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_3100
|
This alteration occurs within gene PXDN (peroxidasin) located on Chromosome 2. Is it associated with a disease or is it a benign variant?
|
Pathogenic; Anterior segment dysgenesis 7
|
CTTTGCCATTTTTTCCACCCCACAGGGTCCGAGGTCTCCTAATCTACCTGGCCAGCTTCCCTTGTCTCAGGGGTGACAGCGTCCCATTTTGCCTTTGTGGCAGAACAAGGAGAACCGCACCCACAGGTGATCAAGGCTGTGGCTCAGAAGCGGCGCCATCTGTGGCGGTCATGGGCAGGTGGCCCCACAGGCCTGGGTCTGGGCAACACAGTGAGTATGGAAGATGCTACAGGCCAAGCCTTAGGGGCTGGTGGCCCCAAGGGCCCGGATCTGCAGACACCAAGCTCTGCCTCTCTCTCTGCCCCTGATACAACAGCAGGAACCCGAAGCTGCCCAACAGCCACAGTGTCAGTTTTGGTGTTTTCTGGTGCGAACAGTGTATTTTTCCCTGCAGTCAACCCCTCTGCCAGAAAAGTATAGCTCATCTCTAAGCTGAAAATGTGCCACAGCTCAGCAAAGCTCCTCTCTTGGAACAAAACAGGCCGGTGGAAGGGCCCTCCACCGTCCATCCACCCCTGGCTCTGCCCCCTCCCCACAACCACGCAGCCACGGGAGGCTGCAGGTTCCCATCTTGACCTTCATGGACTTGACCTTCATCTCACCTCTGCACGACACGAACAAAACTCACACACAGAGACAAATAACACACACACCACAGTTCAGGTGTTCCAGGTGCCTAGGTACACGAGCCATCCCACACAGCCTCTTCAGCTCACCTTTTCAGTTTCTCCCGGATCTCAGGGTTTTTAATCTCATTTTTCAGGTCCTCGAACGTGTGTGCCGCCGATAGATTGCAGTAGACCCTGTAGTCGTGGTAGGGTGGGATCCCGTGGTCCCGGCCCCGCTGGATGTTGATGGCCGCCAGGTCCAGAGCCACCGTGTGTGCCATGGAGAACAGCCGCTCCGTGAGCTCCGTGTTCAGCAGCTGCGAGGGCACACGCATTTTCCCCGCCACCCCGAACAGCCCCCTGAGAAGCGGATCGATGCCGCCCTCATTCACAATCCGGAAGGGAGAGAAGAAAGCTTTGTGAAGGGGGAGGTGATCTTGTGCAATGGGCTGGAAGTTCTCGTCCAGCCGGTAAAGCAGTGGGTTGACAAGCGTGTGGCCAAACCTGAAGGCCGCGGTGGCGAAGGCGTTGAAGATGCCAGCATTGATGCCGGGGTCGTAGCCGTGGTACTCTCCCAGCGTCCTCATGCCCACCTCCCCCAGGATCTTCGGGAGCCAGTGCTGGTAGGTGATGTGCTGGATCTCCGCACCCACGATCTTCCTGGTCTCATAGTAGATGGTGTCGCCGTCCCAGTGCGGGTTCAGCTTGAGCAGCTCCGTGGCAATGCGGTTGTGCTCGCGGAACCACAGCGTGTGCATGCTGGTCAGGCCCAGCTGCTCGTTGGCGCGGTGGTCCCCGGCCAGGAAGCAGGGGATGGGGCTCTCGTTCTCGTCCCGCATGCACTCCGTGGGCGGCCCGGTGGCGAAGGGGAGCAGCGGCTTCCCGGACCGCTGCACGATGCCCTGCCGCAGCAGGCCGCGGTGGCTGGCCAGGTCGCGGATGCTGCGGGCCTCATGCTCCGTGCTCCCGTACACGTTGGATGCGTCTATGTAGGAGGTGAGCTGGTTGATCTGCTCCCGCGGGTACACGGAGTTCATGAGCAGCGAAGTCATGCCGCTGCCGCACACAGGGCTGGAGCGCACGAAGAACATGCAGCGGGCCCCGCTCCTGGCCCGGGAGTCATTGGGGGGGATCATGACAGAGAAGCAGGGGGGGTCGTTGCTGCACACGTTGCTGCAGTGCTGTCCGTCGGAGAAGCGTGCCTGGCTCAGGGCCACCACCGTGGAGTCGAGGTCGTGGTCCAGGAACTGGCCCCACTGCATCAGCATGTGGGTGAACTGCTCGTCGGGTGTGACGGTCTCCGTCCCGATCAGGGTGGTGGACACCAGGCGCGGCATGGGAAGGGCGTGCCCGTTGTACAGTCGGTGGGGGTTGATGCCCCGAGGGGTGTTGAAGCCATTCTCGTACACGGATTTCAGCAGGCGCTCGAAGGCGGTCAGCGAGGCGCCCCACATGGGGTGCTGCAGGTTGTTACAGGTGCCGTCGTGCGTCCGGTACTTCTGGTGGAAGCACATGTCCGAGCAGTTGTTCACGCGCCGGTGGGCGGTACAGCCCGACAGGTTTGCGATGAGGTTCAGGTACTGTGGAGACACCAGGTCGTTGTAGTGGTAACCTGGGACGTGGAGAAAAGCAAGACGCACTCAATTCCCCTGGAGGATGTGTGAGGGCCCGGTACCCCTTGGCACCTCTGCCGCTGACATGGGGCTATCTACCCCCAGCTCATGAAACCTGTTGTGCGCCATGCAACAAGCGCTTCCTGCTGGAAACCTGCTCACCTCCTGTTTGGTAAAACTGCTCCTCCCCTCCTCCAGCCCCAAACACAGGTATTCTCTCCACAGCCCCAGTTTCTGGGCCCTGTCTCCCCTCCCCACTTAGCAGTCTCATGGTTTCAACCAGCAGCTCTCCTCTGGGAGACCCCTAACCGATGGAGCCCGACCCACGTTGACCAGTCCAGGCTGACACTGTTCCAACCTCACTTTAAACGCCCCGTGTAAGAGACAGTCACCACACCTCCACACGAGTGCACACCATCGGTCTCCACAGGCTGCCGAGCAGGGCATTTCCTGACACCTGTCACTGCACATCTCGGTCCACTGAGGCTTCATGCTGTTCCCTCAACGTCCAAAAGAGTGCCACTTCCTTTCACGCTACCTCAAAATGTTCCTAGCCGCCGCGCCCTCCTCTCCATTTCTCTGGCAGAATCCTGGGACTGATTTCCATGGCACTGGCCTTCAATTCCAGAAGGGCCTCCTGCCTGGTGGAGGTCATCCACACGCCCTCCCCACAGCAAGCGCACGCTCCCATGAGCCTGGCACAGGCTCCGACTAGGTCACCTTCTTGCTCAGAGACCTTCTGTCTTTGCCCACTAGCTACAGAAGAAATTCCAAACATGGTAGCCTGGGCCATCACTCCACAGATGAAAGAGATCTTCCTAAGTTCAGATCCTAGTCTTCGCCTTCAAGACACCTGCTCCAAGCAACAGCTACTCCACGTCCTGGGGTCAGACACACTCAGATCTCTGTGTTCGCCAAAGTGCTTCCTCCACATATTCATACATCCTAGGCCTTCACCTTCCTCAACACTCCTCCTTTCCAGGCACATGTCATGCCTGCCGAAAAGCTACACACACGCACACACACATGCACGCTTAAATGTTTTCCATTCACACATGCACACACTCACATGCAAACATGCTTACAGAGCCACACTCACACTTTCACGTGTGCACATACTCACAGAGTTCCAAGCCATCACTGCTTCTTTTTTCTAAAGTTTCTCCAGCCCATTTCTGCTTGTCAAGATCACAGGTATCACTATGGACACCTTTAAAGAAAACAAGAGACAGCCCCTTTTCTGTGGGGGAGCGGTGTCCATAACACCCACATAAGAATGCAAAGAATTGGAAGTGAGGCATTTTCCAGGCTGGGGAGAATAAGTCAGAAACACACACCCTGGTGTGTTGGGTGGGAAAGGTCTGTGCAGGGAACATGAACCCCGGGCTCCCCTCAGCCCCTGGTTCTGTTCTGTCTGACTTTTCCCAGAGGCTGAAACAGTGAGCTGAAACATCTGGCCCTATTTTCACAGCTACTCTTGGGAAGTCCTACAGAATTATCAATCTTGAACATCCATAGAGCCAAGAAAGCAGAGTGCCAGGAGGAAAAGCACTTCCTCCCAAATGCCTGGCTGGGCTGTGGGGCTGGTCTCCGGGCTTTCCTCCAGAATGTTCACTTTTTCCGTGGCGTTGGCCATTGGTTCAGAGGCAGACCAGACCCGCCAACCAGAGCAGGTGGCACCGACCCTGGCCCCAGTTTCCCAGGACTGGTTTGCCCACATCTGTCCTCACCCCATGCAGAGTGGTCACCCAGCCCGATGCTTGAAAATGCATCAAACCATGTTGCTTCTCTGCAGGAAACCCTAAGGTTCCCATTTCATACACAGCCAACGACATATCCTTATATTCGCTCCCAGGCCCTTTCTGGTGGAGCACA
|
CTTTGCCATTTTTTCCACCCCACAGGGTCCGAGGTCTCCTAATCTACCTGGCCAGCTTCCCTTGTCTCAGGGGTGACAGCGTCCCATTTTGCCTTTGTGGCAGAACAAGGAGAACCGCACCCACAGGTGATCAAGGCTGTGGCTCAGAAGCGGCGCCATCTGTGGCGGTCATGGGCAGGTGGCCCCACAGGCCTGGGTCTGGGCAACACAGTGAGTATGGAAGATGCTACAGGCCAAGCCTTAGGGGCTGGTGGCCCCAAGGGCCCGGATCTGCAGACACCAAGCTCTGCCTCTCTCTCTGCCCCTGATACAACAGCAGGAACCCGAAGCTGCCCAACAGCCACAGTGTCAGTTTTGGTGTTTTCTGGTGCGAACAGTGTATTTTTCCCTGCAGTCAACCCCTCTGCCAGAAAAGTATAGCTCATCTCTAAGCTGAAAATGTGCCACAGCTCAGCAAAGCTCCTCTCTTGGAACAAAACAGGCCGGTGGAAGGGCCCTCCACCGTCCATCCACCCCTGGCTCTGCCCCCTCCCCACAACCACGCAGCCACGGGAGGCTGCAGGTTCCCATCTTGACCTTCATGGACTTGACCTTCATCTCACCTCTGCACGACACGAACAAAACTCACACACAGAGACAAATAACACACACACCACAGTTCAGGTGTTCCAGGTGCCTAGGTACACGAGCCATCCCACACAGCCTCTTCAGCTCACCTTTTCAGTTTCTCCCGGATCTCAGGGTTTTTAATCTCATTTTTCAGGTCCTCGAACGTGTGTGCCGCCGATAGATTGCAGTAGACCCTGTAGTCGTGGTAGGGTGGGATCCCGTGGTCCCGGCCCCGCTGGATGTTGATGGCCGCCAGGTCCAGAGCCACCGTGTGTGCCATGGAGAACAGCCGCTCCGTGAGCTCCGTGTTCAGCAGCTGCGAGGGCACACGCATTTTCCCCGCCACCCCGAACAGCCCCCTGAGAAGCGGATCGATGCCGCCCTCATTCACAATCCGGAAGGGAGAGAAGAAAGCTTTGTGAAGGGGGAGGTGATCTTGTGCAATGGGCTGGAAGTTCTCGTCCAGCCGGTAAAGCAGTGGGTTGACAAGCGTGTGGCCAAACCTGAAGGCCGCGGTGGCGAAGGCGTTGAAGATGCCAGCATTGATGCCGGGGTCGTAGCCGTGGTACTCTCCCAGCGTCCTCATGCCCACCTCCCCCAGGATCTTCGGGAGCCAGTGCTGGTAGGTGATGTGCTGGATCTCCGCACCCACGATCTTCCTGGTCTCATAGTAGATGGTGTCGCCGTCCCAGTGCGGGTTCAGCTTGAGCAGCTCCGTGGCAATGCGGTTGTGCTCGCGGAACCACAGCGTGTGCATGCTGGTCAGGCCCAGCTGCTCGTTGGCGCGGTGGTCCCCGGCCAGGAAGCAGGGGATGGGGCTCTCGTTCTCGTCCCGCATGCACTCCGTGGGCGGCCCGGTGGCGAAGGGGAGCAGCGGCTTCCCGGACCGCTGCACGATGCCCTGCCGCAGCAGGCCGCGGTGGCTGGCCAGGTCGCGGATGCTGCGGGCCTCATGCTCCGTGCTCCCGTACACGTTGGATGCGTCTATGTAGGAGGTGAGCTGGTTGATCTGCTCCCGCGGGTACACGGAGTTCATGAGCAGCGAAGTCATGCCGCTGCCGCACACAGGGCTGGAGCGCACGAAGAACATGCAGCGGGCCCCGCTCCTGGCCCGGGAGTCATTGGGGGGGATCATGACAGAGAAGCAGGGGGGGTCGTTGCTGCACACGTTGCTGCAGTGCTGTCCGTCGGAGAAGCGTGCCTGGCTCAGGGCCACCACCGTGGAGTCGAGGTCGTGGTCCAGGAACTGGCCCCACTGCATCAGCATGTGGGTGAACTGCTCGTCGGGTGTGACGGTCTCCGTCCCGATCAGGGTGGTGGACACCAGGCGCGGCATGGGAAGGGCGTGCCCGTTGTACAGTCGGTGGGGGTTGATGCCCCGAGGGGTGTTGAAGCCATTCTCGTACACGGATTTCAGCAGGCGCTCGAAGGCGGTCAGCAAGGCGCCCCACATGGGGTGCTGCAGGTTGTTACAGGTGCCGTCGTGCGTCCGGTACTTCTGGTGGAAGCACATGTCCGAGCAGTTGTTCACGCGCCGGTGGGCGGTACAGCCCGACAGGTTTGCGATGAGGTTCAGGTACTGTGGAGACACCAGGTCGTTGTAGTGGTAACCTGGGACGTGGAGAAAAGCAAGACGCACTCAATTCCCCTGGAGGATGTGTGAGGGCCCGGTACCCCTTGGCACCTCTGCCGCTGACATGGGGCTATCTACCCCCAGCTCATGAAACCTGTTGTGCGCCATGCAACAAGCGCTTCCTGCTGGAAACCTGCTCACCTCCTGTTTGGTAAAACTGCTCCTCCCCTCCTCCAGCCCCAAACACAGGTATTCTCTCCACAGCCCCAGTTTCTGGGCCCTGTCTCCCCTCCCCACTTAGCAGTCTCATGGTTTCAACCAGCAGCTCTCCTCTGGGAGACCCCTAACCGATGGAGCCCGACCCACGTTGACCAGTCCAGGCTGACACTGTTCCAACCTCACTTTAAACGCCCCGTGTAAGAGACAGTCACCACACCTCCACACGAGTGCACACCATCGGTCTCCACAGGCTGCCGAGCAGGGCATTTCCTGACACCTGTCACTGCACATCTCGGTCCACTGAGGCTTCATGCTGTTCCCTCAACGTCCAAAAGAGTGCCACTTCCTTTCACGCTACCTCAAAATGTTCCTAGCCGCCGCGCCCTCCTCTCCATTTCTCTGGCAGAATCCTGGGACTGATTTCCATGGCACTGGCCTTCAATTCCAGAAGGGCCTCCTGCCTGGTGGAGGTCATCCACACGCCCTCCCCACAGCAAGCGCACGCTCCCATGAGCCTGGCACAGGCTCCGACTAGGTCACCTTCTTGCTCAGAGACCTTCTGTCTTTGCCCACTAGCTACAGAAGAAATTCCAAACATGGTAGCCTGGGCCATCACTCCACAGATGAAAGAGATCTTCCTAAGTTCAGATCCTAGTCTTCGCCTTCAAGACACCTGCTCCAAGCAACAGCTACTCCACGTCCTGGGGTCAGACACACTCAGATCTCTGTGTTCGCCAAAGTGCTTCCTCCACATATTCATACATCCTAGGCCTTCACCTTCCTCAACACTCCTCCTTTCCAGGCACATGTCATGCCTGCCGAAAAGCTACACACACGCACACACACATGCACGCTTAAATGTTTTCCATTCACACATGCACACACTCACATGCAAACATGCTTACAGAGCCACACTCACACTTTCACGTGTGCACATACTCACAGAGTTCCAAGCCATCACTGCTTCTTTTTTCTAAAGTTTCTCCAGCCCATTTCTGCTTGTCAAGATCACAGGTATCACTATGGACACCTTTAAAGAAAACAAGAGACAGCCCCTTTTCTGTGGGGGAGCGGTGTCCATAACACCCACATAAGAATGCAAAGAATTGGAAGTGAGGCATTTTCCAGGCTGGGGAGAATAAGTCAGAAACACACACCCTGGTGTGTTGGGTGGGAAAGGTCTGTGCAGGGAACATGAACCCCGGGCTCCCCTCAGCCCCTGGTTCTGTTCTGTCTGACTTTTCCCAGAGGCTGAAACAGTGAGCTGAAACATCTGGCCCTATTTTCACAGCTACTCTTGGGAAGTCCTACAGAATTATCAATCTTGAACATCCATAGAGCCAAGAAAGCAGAGTGCCAGGAGGAAAAGCACTTCCTCCCAAATGCCTGGCTGGGCTGTGGGGCTGGTCTCCGGGCTTTCCTCCAGAATGTTCACTTTTTCCGTGGCGTTGGCCATTGGTTCAGAGGCAGACCAGACCCGCCAACCAGAGCAGGTGGCACCGACCCTGGCCCCAGTTTCCCAGGACTGGTTTGCCCACATCTGTCCTCACCCCATGCAGAGTGGTCACCCAGCCCGATGCTTGAAAATGCATCAAACCATGTTGCTTCTCTGCAGGAAACCCTAAGGTTCCCATTTCATACACAGCCAACGACATATCCTTATATTCGCTCCCAGGCCCTTTCTGGTGGAGCACA
|
Task1_train_3101
|
This gene mutation involves PXDN (peroxidasin) on Chromosome 2. Is it associated with any clinical condition, or is it benign?
|
Pathogenic; Anterior segment dysgenesis 7
|
TGTTGTGCGAGTGGACGATGATGTCACCCGTCTACTCTCAGCTCCTTTTTCAAATTCGGTGAGGCGTTTGTGGACGAGCACACCATGCAAAGCGGAGCAGAGGACCCCATGTGTGTCCTACGACACTTATTTTAACATGTTATTTTCAACAAGCAATTAATATTCCGGGGCAAAACATACCGCAAGCTTTATGAAACTGACCAGATGGGAAAAATCTTTGAGGTGCCATTTTTCCACTGGCTCAGCAAGAATTACATTATCCAGACCCAGGGAAACCTCACCCGGCTCCATTCTAAAAGTCCACTGCTGTTGAGTGAGATGCCCCCGAGTCGTCCGGCCTGGGCTGACCATTCACGGGCTCTGGAAAGAAAGCCTTGGTCTCTCTGCGGAGGAGGAGAGGAACTCGGGCCCCCGCCCCGCCCCAGGGCCTCCAGGAAGCAGCCTGCAAACTCGGCGACCCCTGGGAGCCGTGGTCTGTCCCAGCACTTTGTTTCGGAGGTAGGCGCACTGGCCGCCCACTTCCTGAATTGTTCACTCAATTTTTTTACAACTTTTGCAGACTCTTTGCTGGTGCCAAAAAGTCCTCTGGCTCAGCTAAGAAACGTGAAAACTATTTTTGGCATGCAGAAAAGTCGCTACAGGACTAAATTAGAGTCGGCGCCTGAAACGCAGCCCGCGTTCACAGATCCCGAAAATGTTGAATCCGACTCGCTTCAGAACACAGGAGGCCTGCAGCGAACTCTGGCGGCATCTCGGTACCTGGAGCCGCGGGGCGGAGGGATGGGGATTCCTGCTGTGGAGACCGTGACGCGGGACGGCCCGCAGGACAGGGTGTCAACCCCAACGCAACGCATCCGGTTAAACGTATAGCGCAACTGCGAACACGCTCGCGTGGATTAGAAGCGAAAGAAGAGAAATGCCCGAGGCAGAAACCCGCTCTGAGTCCCGGCTCCATCTAGACCCGGGCTGCCCCGAGACTACCGCGCGGCCCCTCTCGGGAACCCCGGCCGCCCGGCTCGCTCCGGGCGCAGGAAAAGCCCCTGAGAAGCGCGGGGCCCCCAGGACACCCCAGGAGAGGACGCTCCGGGCAGATGCGGGGGCACTGGGAGCGGGGGCGCCGCGGCTGCGGGAACTGAGGCTCCTCTGGGGAGGCTTCCCCGGCGCGGGGGGATGGGGTGGGCACTGCGCTCCAAGGGGCGGGGGAGGGGGAGAGGGCGGAGGCTGGGGGAGGAGAAGGAAGGGGGGGAGGAGGAGGGGAAGGGAGGAGGAGGAGGAAGGGGAGGAGGAGGAGGAAGGGGAGGAGGAGGAGGAAGGGGAGGAGGAAGAGGAGCGGAGGAGGGGAGCGAACAGGACGAGGAACGGGGCGGAGGGGGCTGGGAGGACGGAGGGGGCTGCGCCGCGCTCGGGGAGCGGAGGGGGACCGAGGGGTCCTGAGCGGGGGAAAGGTGAGCGGAGGAGGGGCCGCGAACCAGGGGGAAGCGGGAGGCCGGCGGAGCATGAGAGGGGGCGGCGGGAGGCGAGCGGGGGGAGCCCCGGAGGCTCCAACAACTTCCCAGTCCTGCGGGGATTCCGAGTTCCGAACAAAGGCGGCTACGAAGGCCGCGCGCACAGCGCTCTGTTCCGCCCCTCGGCGTCTCCCGCAGGGCGAACAAAGGCCCAGCGGGTCCCCGCGCCCAGGTCCCCCCACGTCCCCCTTCGGAGGTTCCCTTCTGCGTCCCAAGTCCCCAGGCCCCCCGCGCGCCCGATGCCCCCTCCACCCTCCGCGCCCCCCACCTCCGATCACCCCTGCGCTCCCGGATCTCCACGAAGCCCCGGACCCCGCGCCCCCGGCGTCCCCCGCGGCACTCACAGGATGGAGGTCTGCGGCGCCACGGCGGGCACGGCCTCCAGCAGCAGATGCATGCAGCGCACGGTGGTGCGGAAGCACAGGCAGCGGCTCGGACACCCTGCGCCCGGCTTCTGGGCCACCACGGCCAGCGTCCCCCAGGCGCAGAACAGCACGAGCGCCAACAGGCAGCGGCGCCCGGGGCCCCTGGAGCGCTTGGCCATGGCCGACGGCGCGGACGGACGCTCGGACGCACGGAGCCACCACGGCCGGCTCCCGACTGCGCCCGCCCGGCCGCGGCCCACGTCCCAGCTGTGCGCGGGGGGCGGGGGGCGCCAGCTGTGCACATGCGCGAGGCTCCTCCCGGCCCCTCTGAATCCCCGAGGGCGGGGCGGGGCGAGAACCCGGGGCCCCAGCGTCCGGCCTGAGCGCCCTCATCCCGGTGGGGCGGCCCGCATGGCCAAGGCGAGCGCTCGGGGGCGCGGAGGAGAGCATTGGCACCCCTGATTCTGCGCTCGAGACTCGGGGCTCGGGACCCTGGGGCCTACGCGAAGCTTCTCCACTTCTCTTACCCGTGGTTTCTGCCTGCGCTCACTACGGGTTTTTTAGTTGGCGCCTTAATGTTTGTAACACTTTTAGAGCGCTTGCTCTGATCCGGGCACGATTCCAGGCGCGCAGGCGCGCTCCTCTCTTTCTCCTTCTCCCTACCCGCAACCACGTAGGAAATTATTTAACGTTCCAAAAAAGCCCCTCATTCCTTTTGAGGAAACTGAGGCCCAAGCCCCAAAGCGCACAGCAAGGGAGTCTGCGGGAAGATTAGACCCAGGCGGTCCGGCTCCCCGGGGCCTGTCAGCCACCTGCTCTCTGCCGGCCGCCTGGCTCAGCACAGTTGGGAAAATGAAAGGTCCTGTGTGGAGTCCTTGGCGCGGCGCAATGCAGCCCCCGGGATTCTCGCGGCCTTCAGTGCGTGCCCTCCTGGGACAGACCTAGGAGGAGACCCAGGGAACCCCCCCCCCCCACGTCGGGTGTGTCTAGAGACAGCAGAAGACTTTGGAAAGGAGGGAAGACACTGCGTGAGATACGCACAAAGGTGGCGTTCTCACATAGTTCATACATTCTCTCCAATCATCTCACAAGGACCCAGTCTGAATTTCACAGACAAGGAAGGTGAGGCCAAGTTGCTGAACCCAGGCCACAGGGTGACGGTGCCAGATTCAGAGGCACAGCATGGGCGTGTTCCCGTCGCAAACCCCAAGTCTCAGCTGTGTCCCCGTGCTGGTGTTCTAGCCTGAGCTGCGTTTGAAAGCAGCCTGGAATGGGATTGGTGGGTAATAGGCTAGTTTCCTGTTGCTATGTTAAAACACAAAAGCAACTACCACGAGACATAGCCCGGAGGTCACAGGTGCATTGCTGACCACAGGGCACCATCTAAGGACTGGACCCCCGAGGCTGCTGGCAGGGGGTTCCAGTTCCTTGCCGTGTGGGTCTCCATGGCCTGCACACTGGACATGGCCTGATGCCTCCCAGAGCAGGTATTAGAAGAAAGAGGAAGAGAATGAGAGTACAACACAGAAGCCAGGGTAAAACCTAACCCAGCCTTGGAACTGGCCCCGCATCACACCTGCGGGGTGCATCCTCAGAGGTCGGTGGCTCCCGCTGACATTCCAGATGCCATCTTTCCTGCAGGATTTTATCCACCCTCTACAGCGGATGCAGCTCACACTCCGGATTCCATTTCTCCTGCAGGATCCTATTCACACACTCCGGTGGGCCCAGCTCACACTGCAGACAACATCTCTCCTGCAGGATACTATCCACACACAGAAGTGGGTCCAGCTCACACTGCAGACATCTCTCCTGCAAGATCCTATTCACACATTCCAGTGACTCCAGTTCACACTGTAGATGCCAAAACTTATGCAGGATTCTATGCACACACACTAGTGGTGCATTTCACACTCCGGATGCCGTATCTTCTGCAGAATCCTGTCCACACATTTCAGTGGGTCCAGTTCACGCTCTACATGTGCTCTCTCCTGCGGGCTCCTATCCACACACTCCGGAGGTGCCATTCACACTCTAGATGCCATCTCTCCTGCAGGACGATGTCCACACCCTCCAGTGGGTCCAGTTCACACTCTAGAGGACATCACTTTTGCAGGATCCTCTCTACACATTCCACCGGTGCCATTCACACCACAGATGCTGTCTCTTTGCAGAGTCCTATCCACATGCCCCAGGGCTGCAGCTCACACTGCAGACACCATCACC
|
TGTTGTGCGAGTGGACGATGATGTCACCCGTCTACTCTCAGCTCCTTTTTCAAATTCGGTGAGGCGTTTGTGGACGAGCACACCATGCAAAGCGGAGCAGAGGACCCCATGTGTGTCCTACGACACTTATTTTAACATGTTATTTTCAACAAGCAATTAATATTCCGGGGCAAAACATACCGCAAGCTTTATGAAACTGACCAGATGGGAAAAATCTTTGAGGTGCCATTTTTCCACTGGCTCAGCAAGAATTACATTATCCAGACCCAGGGAAACCTCACCCGGCTCCATTCTAAAAGTCCACTGCTGTTGAGTGAGATGCCCCCGAGTCGTCCGGCCTGGGCTGACCATTCACGGGCTCTGGAAAGAAAGCCTTGGTCTCTCTGCGGAGGAGGAGAGGAACTCGGGCCCCCGCCCCGCCCCAGGGCCTCCAGGAAGCAGCCTGCAAACTCGGCGACCCCTGGGAGCCGTGGTCTGTCCCAGCACTTTGTTTCGGAGGTAGGCGCACTGGCCGCCCACTTCCTGAATTGTTCACTCAATTTTTTTACAACTTTTGCAGACTCTTTGCTGGTGCCAAAAAGTCCTCTGGCTCAGCTAAGAAACGTGAAAACTATTTTTGGCATGCAGAAAAGTCGCTACAGGACTAAATTAGAGTCGGCGCCTGAAACGCAGCCCGCGTTCACAGATCCCGAAAATGTTGAATCCGACTCGCTTCAGAACACAGGAGGCCTGCAGCGAACTCTGGCGGCATCTCGGTACCTGGAGCCGCGGGGCGGAGGGATGGGGATTCCTGCTGTGGAGACCGTGACGCGGGACGGCCCGCAGGACAGGGTGTCAACCCCAACGCAACGCATCCGGTTAAACGTATAGCGCAACTGCGAACACGCTCGCGTGGATTAGAAGCGAAAGAAGAGAAATGCCCGAGGCAGAAACCCGCTCTGAGTCCCGGCTCCATCTAGACCCGGGCTGCCCCGAGACTACCGCGCGGCCCCTCTCGGGAACCCCGGCCGCCCGGCTCGCTCCGGGCGCAGGAAAAGCCCCTGAGAAGCGCGGGGCCCCCAGGACACCCCAGGAGAGGACGCTCCGGGCAGATGCGGGGGCACTGGGAGCGGGGGCGCCGCGGCTGCGGGAACTGAGGCTCCTCTGGGGAGGCTTCCCCGGCGCGGGGGGATGGGGTGGGCACTGCGCTCCAAGGGGCGGGGGAGGGGGAGAGGGCGGAGGCTGGGGGAGGAGAAGGAAGGGGGGGAGGAGGAGGGGAAGGGAGGAGGAGGAGGAAGGGGAGGAGGAGGAGGAAGGGGAGGAGGAGGAGGAAGGGGAGGAGGAAGAGGAGCGGAGGAGGGGAGCGAACAGGACGAGGAACGGGGCGGAGGGGGCTGGGAGGACGGAGGGGGCTGCGCCGCGCTCGGGGAGCGGAGGGGGACCGAGGGGTCCTGAGCGGGGGAAAGGTGAGCGGAGGAGGGGCCGCGAACCAGGGGGAAGCGGGAGGCCGGCGGAGCATGAGAGGGGGCGGCGGGAGGCGAGCGGGGGGAGCCCCGGAGGCTCCAACAACTTCCCAGTCCTGCGGGGATTCCGAGTTCCGAACAAAGGCGGCTACGAAGGCCGCGCGCACAGCGCTCTGTTCCGCCCCTCGGCGTCTCCCGCAGGGCGAACAAAGGCCCAGCGGGTCCCCGCGCCCAGGTCCCCCCACGTCCCCCTTCGGAGGTTCCCTTCTGCGTCCCAAGTCCCCAGGCCCCCCGCGCGCCCGATGCCCCCTCCACCCTCCGCGCCCCCCACCTCCGATCACCCCTGCGCTCCCGGATCTCCACGAAGCCCCGGACCCCGCGCCCCCGGCGTCCCCCGCGGCACTCACAGGATGGAGGTCTGCGGCGCCACGGCGGGCACGGCCTCCAGCAGCAGATGCATGCAGCGCACGGTGGTGCGGAAGCACAGGCAGCGGCTCGGACACCCTGCGCCCGGCTTCTGGGCCACCACGGCCAGCGTCCCCCAGGCGCAGAACAGCACGAGCGCCAACAGGCAGCGGCGCCCGGGGCCCCTGGAGCGCTTGGCCACGGCCGACGGCGCGGACGGACGCTCGGACGCACGGAGCCACCACGGCCGGCTCCCGACTGCGCCCGCCCGGCCGCGGCCCACGTCCCAGCTGTGCGCGGGGGGCGGGGGGCGCCAGCTGTGCACATGCGCGAGGCTCCTCCCGGCCCCTCTGAATCCCCGAGGGCGGGGCGGGGCGAGAACCCGGGGCCCCAGCGTCCGGCCTGAGCGCCCTCATCCCGGTGGGGCGGCCCGCATGGCCAAGGCGAGCGCTCGGGGGCGCGGAGGAGAGCATTGGCACCCCTGATTCTGCGCTCGAGACTCGGGGCTCGGGACCCTGGGGCCTACGCGAAGCTTCTCCACTTCTCTTACCCGTGGTTTCTGCCTGCGCTCACTACGGGTTTTTTAGTTGGCGCCTTAATGTTTGTAACACTTTTAGAGCGCTTGCTCTGATCCGGGCACGATTCCAGGCGCGCAGGCGCGCTCCTCTCTTTCTCCTTCTCCCTACCCGCAACCACGTAGGAAATTATTTAACGTTCCAAAAAAGCCCCTCATTCCTTTTGAGGAAACTGAGGCCCAAGCCCCAAAGCGCACAGCAAGGGAGTCTGCGGGAAGATTAGACCCAGGCGGTCCGGCTCCCCGGGGCCTGTCAGCCACCTGCTCTCTGCCGGCCGCCTGGCTCAGCACAGTTGGGAAAATGAAAGGTCCTGTGTGGAGTCCTTGGCGCGGCGCAATGCAGCCCCCGGGATTCTCGCGGCCTTCAGTGCGTGCCCTCCTGGGACAGACCTAGGAGGAGACCCAGGGAACCCCCCCCCCCCACGTCGGGTGTGTCTAGAGACAGCAGAAGACTTTGGAAAGGAGGGAAGACACTGCGTGAGATACGCACAAAGGTGGCGTTCTCACATAGTTCATACATTCTCTCCAATCATCTCACAAGGACCCAGTCTGAATTTCACAGACAAGGAAGGTGAGGCCAAGTTGCTGAACCCAGGCCACAGGGTGACGGTGCCAGATTCAGAGGCACAGCATGGGCGTGTTCCCGTCGCAAACCCCAAGTCTCAGCTGTGTCCCCGTGCTGGTGTTCTAGCCTGAGCTGCGTTTGAAAGCAGCCTGGAATGGGATTGGTGGGTAATAGGCTAGTTTCCTGTTGCTATGTTAAAACACAAAAGCAACTACCACGAGACATAGCCCGGAGGTCACAGGTGCATTGCTGACCACAGGGCACCATCTAAGGACTGGACCCCCGAGGCTGCTGGCAGGGGGTTCCAGTTCCTTGCCGTGTGGGTCTCCATGGCCTGCACACTGGACATGGCCTGATGCCTCCCAGAGCAGGTATTAGAAGAAAGAGGAAGAGAATGAGAGTACAACACAGAAGCCAGGGTAAAACCTAACCCAGCCTTGGAACTGGCCCCGCATCACACCTGCGGGGTGCATCCTCAGAGGTCGGTGGCTCCCGCTGACATTCCAGATGCCATCTTTCCTGCAGGATTTTATCCACCCTCTACAGCGGATGCAGCTCACACTCCGGATTCCATTTCTCCTGCAGGATCCTATTCACACACTCCGGTGGGCCCAGCTCACACTGCAGACAACATCTCTCCTGCAGGATACTATCCACACACAGAAGTGGGTCCAGCTCACACTGCAGACATCTCTCCTGCAAGATCCTATTCACACATTCCAGTGACTCCAGTTCACACTGTAGATGCCAAAACTTATGCAGGATTCTATGCACACACACTAGTGGTGCATTTCACACTCCGGATGCCGTATCTTCTGCAGAATCCTGTCCACACATTTCAGTGGGTCCAGTTCACGCTCTACATGTGCTCTCTCCTGCGGGCTCCTATCCACACACTCCGGAGGTGCCATTCACACTCTAGATGCCATCTCTCCTGCAGGACGATGTCCACACCCTCCAGTGGGTCCAGTTCACACTCTAGAGGACATCACTTTTGCAGGATCCTCTCTACACATTCCACCGGTGCCATTCACACCACAGATGCTGTCTCTTTGCAGAGTCCTATCCACATGCCCCAGGGCTGCAGCTCACACTGCAGACACCATCACC
|
Task1_train_3102
|
A sequence alteration has been identified in MYT1L (myelin transcription factor 1 like) on Chromosome 2. Is it disease-inducing or harmless?
|
Pathogenic; Intellectual disability
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ACCATGAAGCAACATTTGGTCATTGAAACATTAGTGTTTTTATAGAAGATGCTTGATTGAAATTCTTAGTTTTGAAGATCCATTCATAGAAAGGGACAATTTAAGAAATTCAGTCAAGTTCAGATTTCCCAGAAAGGCTCTATCAGAATAGGATTGACTTTTTGCAAAGATAGGTTTAGACACATGTGTGGCTTTTCGATCAACCAAAATTAGCAAAAGGCCATCCACCTCCTGTAAGATACAGTCTCCCCTCCAGGACAAGACAGGAAGGAGGGGCTGCCCATGCGCACCCTGCCCTGGAAGGCATGAAGAGCTAACCGGCTCCCTCGGAAAATGCTAAAGGTGGGGACCGTCACACCATCTTGCAAGATGAAGTAAGAGAAGAAGAAAGTGCCGATGCTGGAGAAACAGCAAGTTGGCTCGGAATTTCAAATCAACATAAGCCGCCAAGCCCAACGTGAAGGGATGCAAGCCAAAGAAAACGAATCCCTGCAGTCTCTGACCAGTTAGAGGCAACACTAGAAGCAACTTTTACAGAGGCTGTTTTCCTGTCTACAGCTGGCCTGTTGGAACTGGAGATGTGCCAATCTTTGGCAAAGTGTCCCTCATCAAGAAATTCAAAGGAATGCTGCCATGTTCTGATGTATTGGCCAAGTTCCAAGTGGAGTTAGTCATGTTTTGACCATGAGGGAAATGTGGTTTCGAGCCATACAAAAGACGCCTGAACAAAGTGGGTTGAACTGCTCTTGCTAATGCTGTCCGTTTTGAGATCCTAAATCTACTTTTCCATGAGGCACTGTTTTGGATGAGGCTACAGACTTTACAGCCGTTAGGTAAGAGGAAGCCCTCCAGGCGTTTACATTCCATGAAGAAAGTTCCAAGGGTCTTGTGGCGAAAGAGCTAGTTCAGGAAGTCACTGAACATAAGCAGGTGATCTAGGGCCCTAGGGCCTTGGACAGGGATCCTGTAAAAGATGACATGGGTGTGAAATAGAAGCCTACACTTTGCAATAGTCCTGGTCTATCGTCAGGGTCCTCGGATGCCGAGGTGGGGTGGGATGATTGGGAAAGAGATCAAATGTGGGTTGAAAAGCAGCATTATCTTTGCCTGGATAACGCTTTTTCCAAACAAAAGGAAAACCAAGCAATTTGACATAATGATATGGCCTGTCCGATAATTTAAATCGATTATCTGGGGACTCCTGGCTCTCATCTCGCTGTGAGCATCTCCCAGGTCTCACCCTCTTTCCCTGTGTGCACCTGCACGTATGCTCTCCCCGGATTGCGGAGGCTTTGAGACTCCCCCTGTGACTTCTACCCACTTCTTCCAAACCTGTCTGGACCTACATCTAGAGATGTCTATGTGAAGGAGGAAAATCTCAGTGTTGCAGTATAAATGTAGGTATTTCACCAATTTGCCAGATTTATGCTTAAAAATTATAGGCATAGAGAAGAGGGAGGTAAAACTCTAGAATGATGTGTGTCTGGTTGAATTCCATGACTCTCCGGATCCCCGAACCGTGAGTTGTCACTGTCCTAAAGAGTATTCATGACTAAGACCACAGTGTATTTAAGAAATTAGCTATTATGATGGTAGATTTTGTCATAAGTGCTATTTAAGTATCCATATTGTAAATACTGCTATGAATTTCTTTTAAAAATTAAATTTTGATTATTTACAGTCATTTTCTAAAAATTTGAGTAACTGTAAAATTTCCCTTCCATATGCATGCATATCTGAAGAGAAAACACCCATGCTTTAGGATATCCCAGATAGGAAGGATATGATATGAACAAGCTGGAGGTATGTCAGGGGAAAAGGCAGAATGGGTTGTGTGGAAAAGTGGCTGAAATTCCGAGGATTCAATCCCATGTCTACATCAAGGCACTGGGGTGCACAGGCCATGTTTTTTAACAGACATTTTTCTTTGCAAATGACATATCATTTTTTTTTGTGAACTACTGAGTGCATGGATTTTTAAAAGAGAATTATTGTCATTAAATCTTACTTGAGTTCTTGGGAGCTGGTGGCCAGCATACTTCGAATGCTTTTGTCCGCCAGGGGGCAGCCAGACAGACTGTAAGACAGGCCGGGACAGGCAGGTCAGTCAACTGCGAAGCGCGTAACTCCCAAACAAACACAACATAAAAACCGAAATTAAAGAGTTTAATGCAGAAAAGCAATGGGCAAGTGCTGTATATTGAATTTTTTTTTGTGTAATTAATTCTGAATCGGTTCGAATATAAATTTAAGAAAATATTTCTTAATAAGCAATTGTTTAAAAATAAGATAAAACATTTGTGCTCTTTGGCTTAAATGCTTAAGAAGAATTTTACAAATTTAGGTCGTTTATTTGAAAATAAAAGACATTATACAACACATAAATTAGCATGCTTTTGAAGGTCAACATATAGCACTTAAAGGGTTGACACAGAATTCAACATTTTTACTTTGACAGCATTGTTGAGGTAAGCTGAAAACAATAAATTGAAAAGACAGAATCCACCATGAGAAAAATGAAGTCACACCTTCTGTGTGAGGCGTAATTACCAGTCACATGACCACTCCCATCACACCCTGGAGTTGGACATCTGCCACCAAACAAAAACAAAAACAGCCAAAATAGTAAGTATGTTTAAAAAAAAAAAAAACTTTTAAAAAAGTTTCATTGTTTCCAGTTTAGCTGCAATGTCTGCAAGGGGATTTAAGCACCCTGAAGAAAAGCGGCAAAATGCACGGGTTAAATGAAAATGACGCCCCCATCCGACAGAGCGTCACTGGGAACAGGCAAGTGCACGGTTAGCTGCTCACTCTACTGACCCAGCAGTCGGAAACATTTATATGCTGCGAATGTCGCATGCTCAAACGGCAAGGCATATACAGATCCAGTTTTAAAAAATCAGCCAAAGAATGGGAAGATTAAGAAGATTCATAATTTCACCTCACAGCATGCTTACGTTATTAAGTCCTTTTTGCTCTCCTTGCACTGAGGGTACTTGGGTTTGGGACTTGGGATGGTCACCTCCCCGGGATACCGTCTTTCTTCTAGAGCCTCCTGGAATGGGTCCAAGTCTTCTGGCTGTGGGCAAAACACAGCTTCAGAGCCACACGGATGATCACATGGCACACAGACTGAGGGAGGTGGTTCGTGGCTCTGGGGTGGCCTCTACATCTTACACCTCTTTCTGCTGTACCTTTAAGATCCTTTTGGTCCTGATAACGCCCCTACTGAAAATGCATATTGAACTTTTCTTCCACTGCTCTAAACTCCTAAAATGATGGTCACCTGTCAGTGGTCAGGGCCCTTATTCAATATTCACCTGGCTGTGCTCATCACATGGACACACACACGGTCTGGTAGCCAGAGACTACATTTAACTTGGTCTTCCTCATCCAGCATTCAGCACACACCTGTGGGTGGCTGCTTTATCCAACACTTGCCTGCAAAGATTCAACACTGGAACTACAGTGTCTTAGGGCTGAGCTTTCCCCCACCATTGGTCAGTATTTTACAAGCACATGCTTTAAGATTCAAGGTAATGGAGACCAATTTAGAGGAATGTAACTGTAAATTTCCTTTTCCCTTGTGTGTTCAACTGCAGTAACGTAGATGTTTCTACAGGTGGCAATGCTCAGCAGACACTTTCCTAAGTGTAGATACATGGGAAGGTTTGTCTTCCATGATGATCCAGGATGAAAACACTTCTGTCATTTTAGGAGGGCTTACTTTCAATTAAAATGAATTTGGAGATTCAACCACCATGCCTTATTTGGTAGTAATGATTCAACACTGCGGGAGAAAAAAATACTTAGAAATTTAGCTTGCCACTCTGATTTGGTTCTTTTTCACAATGCCTGGATATTGAAATCAATTTGAAGAATGCAGATAATAGGCTTATAAGCAGGTGCCCTCTCTGCCAATTTCTACATGGGGCTAATATTTCTTTTTTTTCCATTTCCTTGTTTCTGTAAGACACTAGTGCTTCGATGGTGGTCTCTCTATTGTACTAAAAACACATTTCATTTTTCAGTGAAGAAAGAAGATGTCATAAGACTTTAAAGTCGGTACATAAAGAAAACATTTTTCTTTATTTCT
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ACCATGAAGCAACATTTGGTCATTGAAACATTAGTGTTTTTATAGAAGATGCTTGATTGAAATTCTTAGTTTTGAAGATCCATTCATAGAAAGGGACAATTTAAGAAATTCAGTCAAGTTCAGATTTCCCAGAAAGGCTCTATCAGAATAGGATTGACTTTTTGCAAAGATAGGTTTAGACACATGTGTGGCTTTTCGATCAACCAAAATTAGCAAAAGGCCATCCACCTCCTGTAAGATACAGTCTCCCCTCCAGGACAAGACAGGAAGGAGGGGCTGCCCATGCGCACCCTGCCCTGGAAGGCATGAAGAGCTAACCGGCTCCCTCGGAAAATGCTAAAGGTGGGGACCGTCACACCATCTTGCAAGATGAAGTAAGAGAAGAAGAAAGTGCCGATGCTGGAGAAACAGCAAGTTGGCTCGGAATTTCAAATCAACATAAGCCGCCAAGCCCAACGTGAAGGGATGCAAGCCAAAGAAAACGAATCCCTGCAGTCTCTGACCAGTTAGAGGCAACACTAGAAGCAACTTTTACAGAGGCTGTTTTCCTGTCTACAGCTGGCCTGTTGGAACTGGAGATGTGCCAATCTTTGGCAAAGTGTCCCTCATCAAGAAATTCAAAGGAATGCTGCCATGTTCTGATGTATTGGCCAAGTTCCAAGTGGAGTTAGTCATGTTTTGACCATGAGGGAAATGTGGTTTCGAGCCATACAAAAGACGCCTGAACAAAGTGGGTTGAACTGCTCTTGCTAATGCTGTCCGTTTTGAGATCCTAAATCTACTTTTCCATGAGGCACTGTTTTGGATGAGGCTACAGACTTTACAGCCGTTAGGTAAGAGGAAGCCCTCCAGGCGTTTACATTCCATGAAGAAAGTTCCAAGGGTCTTGTGGCGAAAGAGCTAGTTCAGGAAGTCACTGAACATAAGCAGGTGATCTAGGGCCCTAGGGCCTTGGACAGGGATCCTGTAAAAGATGACATGGGTGTGAAATAGAAGCCTACACTTTGCAATAGTCCTGGTCTATCGTCAGGGTCCTCGGATGCCGAGGTGGGGTGGGATGATTGGGAAAGAGATCAAATGTGGGTTGAAAAGCAGCATTATCTTTGCCTGGATAACGCTTTTTCCAAACAAAAGGAAAACCAAGCAATTTGACATAATGATATGGCCTGTCCGATAATTTAAATCGATTATCTGGGGACTCCTGGCTCTCATCTCGCTGTGAGCATCTCCCAGGTCTCACCCTCTTTCCCTGTGTGCACCTGCACGTATGCTCTCCCCGGATTGCGGAGGCTTTGAGACTCCCCCTGTGACTTCTACCCACTTCTTCCAAACCTGTCTGGACCTACATCTAGAGATGTCTATGTGAAGGAGGAAAATCTCAGTGTTGCAGTATAAATGTAGGTATTTCACCAATTTGCCAGATTTATGCTTAAAAATTATAGGCATAGAGAAGAGGGAGGTAAAACTCTAGAATGATGTGTGTCTGGTTGAATTCCATGACTCTCCGGATCCCCGAACCGTGAGTTGTCACTGTCCTAAAGAGTATTCATGACTAAGACCACAGTGTATTTAAGAAATTAGCTATTATGATGGTAGATTTTGTCATAAGTGCTATTTAAGTATCCATATTGTAAATACTGCTATGAATTTCTTTTAAAAATTAAATTTTGATTATTTACAGTCATTTTCTAAAAATTTGAGTAACTGTAAAATTTCCCTTCCATATGCATGCATATCTGAAGAGAAAACACCCATGCTTTAGGATATCCCAGATAGGAAGGATATGATATGAACAAGCTGGAGGTATGTCAGGGGAAAAGGCAGAATGGGTTGTGTGGAAAAGTGGCTGAAATTCCGAGGATTCAATCCCATGTCTACATCAAGGCACTGGGGTGCACAGGCCATGTTTTTTAACAGACATTTTTCTTTGCAAATGACATATCATTTTTTTTTGTGAACTACTGAGTGCATGGATTTTTAAAAGAGAATTATTGTCATTAAATCTTACTTGAGTTCTTGGGAGCTGGTGGCCAGCATACTTCGAATGCCTTTGTCCGCCAGGGGGCAGCCAGACAGACTGTAAGACAGGCCGGGACAGGCAGGTCAGTCAACTGCGAAGCGCGTAACTCCCAAACAAACACAACATAAAAACCGAAATTAAAGAGTTTAATGCAGAAAAGCAATGGGCAAGTGCTGTATATTGAATTTTTTTTTGTGTAATTAATTCTGAATCGGTTCGAATATAAATTTAAGAAAATATTTCTTAATAAGCAATTGTTTAAAAATAAGATAAAACATTTGTGCTCTTTGGCTTAAATGCTTAAGAAGAATTTTACAAATTTAGGTCGTTTATTTGAAAATAAAAGACATTATACAACACATAAATTAGCATGCTTTTGAAGGTCAACATATAGCACTTAAAGGGTTGACACAGAATTCAACATTTTTACTTTGACAGCATTGTTGAGGTAAGCTGAAAACAATAAATTGAAAAGACAGAATCCACCATGAGAAAAATGAAGTCACACCTTCTGTGTGAGGCGTAATTACCAGTCACATGACCACTCCCATCACACCCTGGAGTTGGACATCTGCCACCAAACAAAAACAAAAACAGCCAAAATAGTAAGTATGTTTAAAAAAAAAAAAAACTTTTAAAAAAGTTTCATTGTTTCCAGTTTAGCTGCAATGTCTGCAAGGGGATTTAAGCACCCTGAAGAAAAGCGGCAAAATGCACGGGTTAAATGAAAATGACGCCCCCATCCGACAGAGCGTCACTGGGAACAGGCAAGTGCACGGTTAGCTGCTCACTCTACTGACCCAGCAGTCGGAAACATTTATATGCTGCGAATGTCGCATGCTCAAACGGCAAGGCATATACAGATCCAGTTTTAAAAAATCAGCCAAAGAATGGGAAGATTAAGAAGATTCATAATTTCACCTCACAGCATGCTTACGTTATTAAGTCCTTTTTGCTCTCCTTGCACTGAGGGTACTTGGGTTTGGGACTTGGGATGGTCACCTCCCCGGGATACCGTCTTTCTTCTAGAGCCTCCTGGAATGGGTCCAAGTCTTCTGGCTGTGGGCAAAACACAGCTTCAGAGCCACACGGATGATCACATGGCACACAGACTGAGGGAGGTGGTTCGTGGCTCTGGGGTGGCCTCTACATCTTACACCTCTTTCTGCTGTACCTTTAAGATCCTTTTGGTCCTGATAACGCCCCTACTGAAAATGCATATTGAACTTTTCTTCCACTGCTCTAAACTCCTAAAATGATGGTCACCTGTCAGTGGTCAGGGCCCTTATTCAATATTCACCTGGCTGTGCTCATCACATGGACACACACACGGTCTGGTAGCCAGAGACTACATTTAACTTGGTCTTCCTCATCCAGCATTCAGCACACACCTGTGGGTGGCTGCTTTATCCAACACTTGCCTGCAAAGATTCAACACTGGAACTACAGTGTCTTAGGGCTGAGCTTTCCCCCACCATTGGTCAGTATTTTACAAGCACATGCTTTAAGATTCAAGGTAATGGAGACCAATTTAGAGGAATGTAACTGTAAATTTCCTTTTCCCTTGTGTGTTCAACTGCAGTAACGTAGATGTTTCTACAGGTGGCAATGCTCAGCAGACACTTTCCTAAGTGTAGATACATGGGAAGGTTTGTCTTCCATGATGATCCAGGATGAAAACACTTCTGTCATTTTAGGAGGGCTTACTTTCAATTAAAATGAATTTGGAGATTCAACCACCATGCCTTATTTGGTAGTAATGATTCAACACTGCGGGAGAAAAAAATACTTAGAAATTTAGCTTGCCACTCTGATTTGGTTCTTTTTCACAATGCCTGGATATTGAAATCAATTTGAAGAATGCAGATAATAGGCTTATAAGCAGGTGCCCTCTCTGCCAATTTCTACATGGGGCTAATATTTCTTTTTTTTCCATTTCCTTGTTTCTGTAAGACACTAGTGCTTCGATGGTGGTCTCTCTATTGTACTAAAAACACATTTCATTTTTCAGTGAAGAAAGAAGATGTCATAAGACTTTAAAGTCGGTACATAAAGAAAACATTTTTCTTTATTTCT
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Task1_train_3103
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Here’s a variant in MYT1L (myelin transcription factor 1 like) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Intellectual disability, autosomal dominant 39
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CCAATTCTCTCATGTAAATTGTCACAGCGAATCCGCAGACACCAGGGGAAGAATGACACCCTTGCCCTCACACAGCCTGGCCTGGAGTGAGGGGTCCTGGCCCCGGCTTCCAGCACAGCCCCGCCCTCCAGTCCCTGCCCCTGCTGCTGTAGGGACATGCCCTGAGCGGGTGTCCCCAGCGCTCCGAGGTGTGGGGCAGACTATGGATAGAGCTCACGGATGGTGCACTCCTGCTGGGTACCTGAGCACGCGGTCCGAGGCCTGGCTGGACTTGGACACGTCGCAGCTCTGGTGCTTTTCCTGTGCCTTGGCCAGTTTCTCTGCTGCAGCGATCGGGCATCCGGAGAGGCTGCAATCACAGAAAGCGGGTTGAATGGTCCCGCCTCAAACACCTTCACAGCACACTAATCCTCCCTTAGCACCAAGACCCTGATGCAGGTGGAGCTGGTGAGGGAGGGGTAGTTTCCCAAACCTGGCACAGGCAGTCCTGATGGGTGGACTGGGAGAGGGGGAGGTAGTCATGTTTCCAGGTGCATGCTTTCTGCTGGTCTCCAGCAGAGAATGCTGGCGGCAGTGCTATGTGTGAGGTGTATTCAATCCTTCCCAATGAGAGCATCCCAGCTCCCATGCATTCGGGAGGACATAGCTGGTGAAAACTGTAGACAGATTCCATTTCTGGAGATGAAGAATTAACAGCTTGGGTAGGATGAGTTTTGAAGCCCCAGAATGGCAATGAATTGACTGTTACCAGAAGATGGAGCTCCAAGCTGATTTCCTAAATGCTATTGACTGTGGCGTCTGGGGGGCCTGTCTGACTTTAGCCCTTTGGTGTTCTCCACAAGCAGGGAAATGAAAGTGGAGAGGAAAGCAGAATGATTTCTAGGACTGCAATAAAATGTTTTGTGGAGCCAAATAGTTCAGGCTTAGTCTAGACGGAGGAGACAGCAGCTGGGCTCTTTTGTGTGCAAGCTCACTTTATGTGAAATCACCGTGTCTGCTCTGTGGGTGTCTACATACGTATCTGCTCATATGCACAGACGCTCACCCCATATATGTGTCATATCCCAAAAATACGCCTGTGCTGAGGTTTGACGGAGGCCCTGACGCTGCGGATGCTGCATCGAACAGCACACAGCACGCACCTCTCCAACCTATCGATCATTTCCTGCTTCTGCAGATTAAACACCTGAATGTCTCTGGAGGGCACAGTGGTCATTTGTTTCATTATAAATGTAACACAAAGGACCAGGTTTGCCAGTCAGACAAGCAAAAATTAGAGTGAAGCTTGTAACAGTTTCCTTCTTTTAGATACAATTTTACGTGAACTCATAAAACCATAGACTGTAAGACAAACTTTAAAAGAATCACTTTTTGGCCTCTGGGAAAAAAAAAGTTATCAGATAAGAACGCAATATTATGGGCAGCTGAGTAGTTCTTATCAAGTCTGCACAGGACAGGAAAAGAGAACTCAGATCTTTCACAAACAAAAGAGTGGTTCTGAGTCCATTGGTTAGCAGGAGTCCAGAATCTATTTCCCTGGCACCCCAGCCTCCCACAGACCACCCCCCAACCTGCTAAACATCTGCAGGTTTTCTGAAGACGTCCATACTTGTGACCTGGGGTTTCCATAGAATTCCAAGGGCAGCCAAGCCAAGCTACACACTGTACAGGCGTGCTGCATTCCAGGCCACGTCCTGTCCAATGAACACTAGGACAGCCCTGTCTTCACCTCGGAGGACAGCGAAGGCTTGGTCTCCTTCCTTCCAGCCATTGTAAATGGTCATGGTTTCCACTCCTGATACTATACCCTGCTATGATAAGGTGGGTGGGGCAACTAAAACCATCCAGTTTGCACCACAAGGGCGTGGAGTGCTTTCACTCCCGTGCATTATATGGAGGTGCCCGCACTTGGGGAGCACGGTGGGGAGCACCATATGGAGCGTGGTAGGCCCCCCAGGAAGGAGAAGGCATGGAGAGCAGCCGGTGCTCCCTCCCACACCAGTGACCCACGCGTGGCTTACCTTCGGTGGGAGTTCCTGTTGCTGTTGACATGCCCGCGCCCCGTGCAGCCCGGAGTGGGGCACTTGAGGACACTTTCATGCATGGCAAGGACTTGACAGGGAGAGGCAAAGAGAACAGCCAGTGTTAAAACAGAGGCACGGTTAGGGCACATGAAAATGCAGTCATTTAACAAAGGCCAGGTCGCTCATGATAGACAGTCCTACAAACGTTTGTGATGGGCATGGCCAGGAAAACACACATGGGAGGAGAAAGAAGGTTGACTGGACCCTACGGACCCTACACGAAAGGCCAGAGAAAGAAGGTTGACTGGACCCTACAGACCCTACATGAAAGGCCAGAGAAAGAAGGTTGACGGGACTCTATGCTAAGGGCCTCACACAGCAGAGGCGCTGGAGCCAGGAGCTGGGGAGTTCAGAGAACACAGAACTGACTCTTTCCTGATGGGCTAGGGGAGCGAGGGCCTCACAGATATTACCCATGCACAAGCATGGAGTATTGATTAGCCATAGAACAACACAGAGGCTGGGGATTTTAAAAACATGCCTGTGCTTTGGAAACACACAGCATTATGAACGTGTGGTGGGTAGATGAATACAGAACCACAAACCTTAATTTTAAATAAAATGAATTAAATAATCACTCTTCCTTTAGGAATCAAGTGCTTTATTATTCTTTAAATAGGATGAGCTAGAAGAGTAAGCGTCTGCGTTTTTACCCTGTGAAATTAACAAGCGGGAGAGGCCTCTTGCATGGACACCTTTTGTGGTGCAAGGATGCTACTGGCTGGTCGGCAGGGGAGAGCTGCTTGAATTTTCCCAGCAGTGGTGTTGGACCTGAATTATTTGTGTCTTCCTTCTTTTCTGGTCCTTCATGAACGCTCTACTACTCTGGGTTCTGGGGGAAGGTTAGCAGGGACGAAGGGACCCCCACACGGACCCTGTCTGCATCATGCTCTGCTCCTCTGAGCCCGCTGTCTCCAAACTCCAGGGGAATGGGGTGGTGGCTTTCCCTGACAGCAAGGTTTACCTGAGGCCAGGTGAACATGGAAGGTCTATTCAAAACAGATCTGCCTACTCTAGTTATGTAATTGTATTTTTGACACTTTTCCTCCTTCTCTAGAACAACCTCTCTCTTTCCCCTGCAGTCTGCTGGGCACTGAATCCCACATCCACATGGTGTTGCTGTTATCTGAGTCCACACCCTGTCTTCTTACTGCTGGGCAGTCCCTTCAGCAGAGTTTGCTTTGGTATTAGCTTTATCGCTCCCACAGTTCCTGGCTTGTCCTGGATGTGGTAGGTCCTAGTAAGTGCTGTCAGAAAAATGAATGATCAAAGTGAGTCCACCTTTGGTTCATCTTGTGCTGGCACCTGGCTGGAGGGGGTCACAGGAGGGTTCCTTTCTGAGAGGATCCAAGCACAGTTCCCTGCCCCCTTCCTCCCTGTCCCAGAGGAAGAAGTGCTGCTCCTCCCTACAGGGAGGCCTCTCCAGGAAGCATGTGCGTGGTCCTCCTTCCTGCAGGATGTCGATCTACCTACTTCGTTCATTCTTTCTTCTTTATCATTTGTCCACCACCGTGTGACAACAGCACACGAATGCTTCTCTTCACACTGCTCCCCTCTGACATGTACCTGCACCTTTCCTTTCCTTTTATGGTAAACTTTTCACATGCAGTCTTCCCTGGGGATGGCACACGGGGGTCACTCTGACCTGAGGTCCAGATGGCAAGTGCACTTTACGCCTCTCTCCTGCTGTGTGGGAATGCACACTCCCAGCCTCGCCCCTGAATCCTCCTGAGGTGGAGTGTGCTTGCTATCCTTGGTCTACACTCTGCTGCTACTTCATCCATCTCAATCACATTTCTCAAACTTCTGCAGCATGTGCAGCTCCTATCCCTCTCTCCTCTTCTCACATCTGTCTCTCGGCGTCAACAAGAGGCTTTTACTCAAGAAACCCTTCCGGGCGTGGTGGCTCACACCTGTAATTCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACAAGGTCAGGAGTTCGAGACCAGCCTCACCAATATGGTGAAACCCCGTCTCTACTAAA
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CCAATTCTCTCATGTAAATTGTCACAGCGAATCCGCAGACACCAGGGGAAGAATGACACCCTTGCCCTCACACAGCCTGGCCTGGAGTGAGGGGTCCTGGCCCCGGCTTCCAGCACAGCCCCGCCCTCCAGTCCCTGCCCCTGCTGCTGTAGGGACATGCCCTGAGCGGGTGTCCCCAGCGCTCCGAGGTGTGGGGCAGACTATGGATAGAGCTCACGGATGGTGCACTCCTGCTGGGTACCTGAGCACGCGGTCCGAGGCCTGGCTGGACTTGGACACGTCGCAGCTCTGGTGCTTTTCCTGTGCCTTGGCCAGTTTCTCTGCTGCAGCGATCGGGCATCCGGAGAGGCTGCAATCACAGAAAGCGGGTTGAATGGTCCCGCCTCAAACACCTTCACAGCACACTAATCCTCCCTTAGCACCAAGACCCTGATGCAGGTGGAGCTGGTGAGGGAGGGGTAGTTTCCCAAACCTGGCACAGGCAGTCCTGATGGGTGGACTGGGAGAGGGGGAGGTAGTCATGTTTCCAGGTGCATGCTTTCTGCTGGTCTCCAGCAGAGAATGCTGGCGGCAGTGCTATGTGTGAGGTGTATTCAATCCTTCCCAATGAGAGCATCCCAGCTCCCATGCATTCGGGAGGACATAGCTGGTGAAAACTGTAGACAGATTCCATTTCTGGAGATGAAGAATTAACAGCTTGGGTAGGATGAGTTTTGAAGCCCCAGAATGGCAATGAATTGACTGTTACCAGAAGATGGAGCTCCAAGCTGATTTCCTAAATGCTATTGACTGTGGCGTCTGGGGGGCCTGTCTGACTTTAGCCCTTTGGTGTTCTCCACAAGCAGGGAAATGAAAGTGGAGAGGAAAGCAGAATGATTTCTAGGACTGCAATAAAATGTTTTGTGGAGCCAAATAGTTCAGGCTTAGTCTAGACGGAGGAGACAGCAGCTGGGCTCTTTTGTGTGCAAGCTCACTTTATGTGAAATCACCGTGTCTGCTCTGTGGGTGTCTACATACGTATCTGCTCATATGCACAGACGCTCACCCCATATATGTGTCATATCCCAAAAATACGCCTGTGCTGAGGTTTGACGGAGGCCCTGACGCTGCGGATGCTGCATCGAACAGCACACAGCACGCACCTCTCCAACCTATCGATCATTTCCTGCTTCTGCAGATTAAACACCTGAATGTCTCTGGAGGGCACAGTGGTCATTTGTTTCATTATAAATGTAACACAAAGGACCAGGTTTGCCAGTCAGACAAGCAAAAATTAGAGTGAAGCTTGTAACAGTTTCCTTCTTTTAGATACAATTTTACGTGAACTCATAAAACCATAGACTGTAAGACAAACTTTAAAAGAATCACTTTTTGGCCTCTGGGAAAAAAAAAGTTATCAGATAAGAACGCAATATTATGGGCAGCTGAGTAGTTCTTATCAAGTCTGCACAGGACAGGAAAAGAGAACTCAGATCTTTCACAAACAAAAGAGTGGTTCTGAGTCCATTGGTTAGCAGGAGTCCAGAATCTATTTCCCTGGCACCCCAGCCTCCCACAGACCACCCCCCAACCTGCTAAACATCTGCAGGTTTTCTGAAGACGTCCATACTTGTGACCTGGGGTTTCCATAGAATTCCAAGGGCAGCCAAGCCAAGCTACACACTGTACAGGCGTGCTGCATTCCAGGCCACGTCCTGTCCAATGAACACTAGGACAGCCCTGTCTTCACCTCGGAGGACAGCGAAGGCTTGGTCTCCTTCCTTCCAGCCATTGTAAATGGTCATGGTTTCCACTCCTGATACTATACCCTGCTATGATAAGGTGGGTGGGGCAACTAAAACCATCCAGTTTGCACCACAAGGGCGTGGAGTGCTTTCACTCCCGTGCATTATATGGAGGTGCCCGCACTTGGGGAGCACGGTGGGGAGCACCATATGGAGCGTGGTAGGCCCCCCAGGAAGGAGAAGGCATGGAGAGCAGCCGGTGCTCCCTCCCACACCAGTGACCCACGCGTGGCTTACCTTCGGTGGGAGTTCCTGTTGCTGTTGTCATGCCCGCGCCCCGTGCAGCCCGGAGTGGGGCACTTGAGGACACTTTCATGCATGGCAAGGACTTGACAGGGAGAGGCAAAGAGAACAGCCAGTGTTAAAACAGAGGCACGGTTAGGGCACATGAAAATGCAGTCATTTAACAAAGGCCAGGTCGCTCATGATAGACAGTCCTACAAACGTTTGTGATGGGCATGGCCAGGAAAACACACATGGGAGGAGAAAGAAGGTTGACTGGACCCTACGGACCCTACACGAAAGGCCAGAGAAAGAAGGTTGACTGGACCCTACAGACCCTACATGAAAGGCCAGAGAAAGAAGGTTGACGGGACTCTATGCTAAGGGCCTCACACAGCAGAGGCGCTGGAGCCAGGAGCTGGGGAGTTCAGAGAACACAGAACTGACTCTTTCCTGATGGGCTAGGGGAGCGAGGGCCTCACAGATATTACCCATGCACAAGCATGGAGTATTGATTAGCCATAGAACAACACAGAGGCTGGGGATTTTAAAAACATGCCTGTGCTTTGGAAACACACAGCATTATGAACGTGTGGTGGGTAGATGAATACAGAACCACAAACCTTAATTTTAAATAAAATGAATTAAATAATCACTCTTCCTTTAGGAATCAAGTGCTTTATTATTCTTTAAATAGGATGAGCTAGAAGAGTAAGCGTCTGCGTTTTTACCCTGTGAAATTAACAAGCGGGAGAGGCCTCTTGCATGGACACCTTTTGTGGTGCAAGGATGCTACTGGCTGGTCGGCAGGGGAGAGCTGCTTGAATTTTCCCAGCAGTGGTGTTGGACCTGAATTATTTGTGTCTTCCTTCTTTTCTGGTCCTTCATGAACGCTCTACTACTCTGGGTTCTGGGGGAAGGTTAGCAGGGACGAAGGGACCCCCACACGGACCCTGTCTGCATCATGCTCTGCTCCTCTGAGCCCGCTGTCTCCAAACTCCAGGGGAATGGGGTGGTGGCTTTCCCTGACAGCAAGGTTTACCTGAGGCCAGGTGAACATGGAAGGTCTATTCAAAACAGATCTGCCTACTCTAGTTATGTAATTGTATTTTTGACACTTTTCCTCCTTCTCTAGAACAACCTCTCTCTTTCCCCTGCAGTCTGCTGGGCACTGAATCCCACATCCACATGGTGTTGCTGTTATCTGAGTCCACACCCTGTCTTCTTACTGCTGGGCAGTCCCTTCAGCAGAGTTTGCTTTGGTATTAGCTTTATCGCTCCCACAGTTCCTGGCTTGTCCTGGATGTGGTAGGTCCTAGTAAGTGCTGTCAGAAAAATGAATGATCAAAGTGAGTCCACCTTTGGTTCATCTTGTGCTGGCACCTGGCTGGAGGGGGTCACAGGAGGGTTCCTTTCTGAGAGGATCCAAGCACAGTTCCCTGCCCCCTTCCTCCCTGTCCCAGAGGAAGAAGTGCTGCTCCTCCCTACAGGGAGGCCTCTCCAGGAAGCATGTGCGTGGTCCTCCTTCCTGCAGGATGTCGATCTACCTACTTCGTTCATTCTTTCTTCTTTATCATTTGTCCACCACCGTGTGACAACAGCACACGAATGCTTCTCTTCACACTGCTCCCCTCTGACATGTACCTGCACCTTTCCTTTCCTTTTATGGTAAACTTTTCACATGCAGTCTTCCCTGGGGATGGCACACGGGGGTCACTCTGACCTGAGGTCCAGATGGCAAGTGCACTTTACGCCTCTCTCCTGCTGTGTGGGAATGCACACTCCCAGCCTCGCCCCTGAATCCTCCTGAGGTGGAGTGTGCTTGCTATCCTTGGTCTACACTCTGCTGCTACTTCATCCATCTCAATCACATTTCTCAAACTTCTGCAGCATGTGCAGCTCCTATCCCTCTCTCCTCTTCTCACATCTGTCTCTCGGCGTCAACAAGAGGCTTTTACTCAAGAAACCCTTCCGGGCGTGGTGGCTCACACCTGTAATTCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACAAGGTCAGGAGTTCGAGACCAGCCTCACCAATATGGTGAAACCCCGTCTCTACTAAA
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Task1_train_3104
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This variant affects the gene MYT1L (myelin transcription factor 1 like) found on Chromosome 2. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Intellectual disability, autosomal dominant 39
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AGGGGAAACTAGCCCAGAAAAAAAAAATTAAAAGCCTTCTATGGATGGAATTCTCTAATTGTTTTAGTAAATGCTTGTGGTGTTATAAAGAATCGCACAGGAGCAAAGGCTGAGAAGCCTCCTCTGTATTGTCTGGCATGCACCTGTGCCGCCCATGTCAGAGCTGACTCTCCTTGCCTCCGAGAGCGATCTGGCCCTGGGAGGCACCTGCAGCCGGCGCGAAGGGCACCTTGCCAGTCCCACTCCACAGTCCCACTTCATTTAGGCCTGTCCTGTGAAAACAGGGAGTCAGAAGAATTTCCCATCCATAAAAAGGAGCTGATAATCTACCTTGAAGGTGAAAATGTAGGTCTTATAAAACACATAAAGAAACTCTTTCTTCTTAAAACACTAGAGCTTGGTCCTCCTGCCTCACTTTGCAGATGAGGAAGATGAAGTACAGAGAGCTGCAAGGTGCTGGGTGTCACATCGTGTGTTCAGACAGAAACTGGAACACCAAACCCAGGTTTCAGAGGAGACAGACAGGCTCAGAGGTCAGTCGGATACGGATTTACATCTTAGCCCGGAGCTTACTTGAGTAAGTTAGTACCTGCTCAGATTTGTTTAAGAAGATATGGCATATCCTCAATTTGCCAGGCATTGGCTAACCTCTGGAAAGAAAGGGTGGCAGAGTCTCTGACTCTCATCTTCCTCATCCGAATGAAAGGGGGGGTGTTGCCCTGCAGTGTCGATTGCGGGTTCAGTGAACTTGTGTTTGCTGGGTGTGAGCTGCGTCCCAGCACCAAGTGTGTGCTGGGTACATGGAAGCTGTTGTCAAACCATGCTGTCTTCCTGCTCATGTAACACACGGGATTGGAGCCACTCGCTCTGATTTGTTTATTTTTATGGCTCTTCAGGCTTGTTCACAAGATGGTTACAAAACACACAAGTTTGCTATTTTGAGGAGCCATTTGAAAACCTGGAGCCATAATTGCATCTAAAGATCTTTCACTAGAAAATGTTCAGCAAAAACTTCCTAAGTCCCAAATGCTCCTGAGAACGTTTCTTTGTGCTGACAGGTTTTGCTCTCAAGTATCTCAAAGTTACCCATTTTAATGGGACAGTCCTCAAAAGGGCCTTAAAGTAGTTAACTGGTCATCTTGTCATCTCTCAAGCCATGTTATGACATGTTCCCCACTAGAAACTGTGTCTTAGACAGTAAGGGAAACTCTTCCCATGCCGTAGACTCAAAACCAGAACCTTAAACTCATATACTCATTTCTGAGAATGTGTCTTTTCCCTGAACCATCAATTCTAGCTGCGGTATTTAATTTATTGGCATACTTTATGTGCTGAAAGGATAAACAAAAAAAGATGTATATCATTTCAATTCTAAAAAAATTTAGCTATATTCATGGACTTATTCCACATGATCAGAACCTAATTAATTAAAAAGAATGCTTAAGATCAAAACCCATCTGATTTCAACCTCCTTCCTTATTGAAGAACCTATAGTGTTGAAATGTCGAGACAACTATGACATGAGACAGACTTTACAGGTGAAATGCAATAAAACTTCAGATCTAAATATGCATTTGGATGATGTACAGAAATCCAGATATTTGGGCAAGAAATGTCTGTCTCAAGGCCTCTCTCCTCTGGGATTCCTGGCAGTTTCATGCTGGAAGGGACGTCTTAGAGGCCATCGAATTCAATTCTGTAATTACGAGAAAAGATGCCTGGAAGCAACCTGCCCAAGGTCACAGAGCAGGTCAGAGCTGAACTCAGGACTAGAACCCAGGCCTGTGCAGGAGCTTTGTTAGGGGCGGTGGGCTTCATGGTGCACCACTCTCCTGGGGCTGTGCCATTGGCATGCCCACGAATCCTGGATCAGTTGCCCATCAAGTTAAGTAGGGGCCTAGTTAAATCAGGTCGCACCGAGCCGTACAATGGAGATGATGTCAGGTAAGAGGGATGACAGAGACAGAGTCATGGGTGTTTGCACCCCCAAGGGTAGCGGTGAGACGTGGACTTACTTTCTGGAGGGACCCTATCTTTGTGCGGGCATCCGGACAGGCTGCGGTGATGTGGGTACAGCCCAGTTACGTGGCCGGTTCCATCACACCCGGGGGTTGGACACTTGCTCTCTTTCTTTTCTGTTCTTGAGGGATCTAAAAGCGACAACAGGTGCCAAGAGAATAAATGTTTACCAATCAAAGACAAATGTGATTATTTCACAATCTGAAGAAACCTTGCTAAAGAAAGAAATAAAGCAGGTGTCGGGGGCTAGGCTGTGACATCAGACTTTTGCTTAGATAGTTCTTTGGTTTTGGGTGACTTTTTTCAACCTTACACAGTATAATCATGAATCATAAAGTATTTTAATTTTTATTCTAAAGAAAAGAAAAGCCTACCCCTCACCTTAACTCTGATTCATTATTTTCCCGTGTGTTACATGATAAGCTGTGTTGCTCAAAGGAATCAACGTAAATCGTGATGAGACAGTGACCTTCTTAGAGAACGAAATTCTGTGCCATCATCATTCAGCAATTTTCCATGAAATTCAACCAGAGAGTGTCATTCCATTCAAAAACTCTTTAGCTGAATTTCTTTCTTATTGAGTGCTCTGATCGCATACACTAGAAGCTGCAGGATTTTACTGACATTGAAATTTGCTCTCCGGAGGTCAAGTGACATTGTTTCGTAGCACACCAATTCAGCGCTTTTCTGAAAATAAACTGAACTCTCAGAAGGCACTGTAAGCAAATGACCAAAAAGGTGGAAAGCCCACCTGACAGAGGTGACGGGTAATCAACATGTTTCAGAAGCCACGGGAGCAGCCTTTTGTTTTGATTTCTTCATCTGTACTTGGAACCAGAGGAAGGCTCGTAGAATGCCGTGCATGCATACACAAAATTAAGAAGTAATGGGTTTCTACAGCCCTGTCGGCTTCTCTGCAAGTACCAGTCAAGGGCAAATTAGGGCAGAGCTTCGGTTAAAAAAAAATTCAATACTAGAGGCCAGAAATGTAATGATATTGCTAATAAAATTATTTCTATACCCAGAATTGACTACAGTTCATAAATATGCAATATAATAACTTCAGATAATATTTCTAAAGTAAAGCTCAGACCAAACAGTAAATCTAAGTGTGCAAAACACTGTATTTTTAGCCAGTTTTTGAAAACCAGTTGCTCAGATCACCAACAGATAGCGATTATTATTATTTAGTCCAGAAATGCAATAGTTAAATTTTCTTTAGGGATTAGTTCTTTTTGATATTCCATTAATCAGGCCAATCATGATTGCTAGAAAATACATGTTTTACTTTCAGTTAAGAATTCACTTTATATCAATAAAAGCTGGATTTAGAATTTTTTGAACTTTTACGGACTTTTCATTCGTTCAGGTGAACTTCAAATAGACAAAGGACTAGCAGGAATAGACAAATGCCATCATGTTCATATAAAAACACTCCCCTTTTCTTTTTTAGCTAGCATCTTATTCTGCATAATGTGCCTCTCCTGTACTGGAAACTCTTAAGCCAGCACTGGTGTTGAGGGAAATACCATTTGTACAATCATCCGTTACTTTCCTACCATTATGTCAAGAAGAATCTTTGAGAACAAATCTAAAATTATGTGGTTGTGGCTTCAATTTCTAATTACATTACTGAAACTTCTCTTACACCTGCAAACAAAAATGCCTAGCACTTTATTGCCTTTTCAGTAATTTCATAATAATGTTGGTATAAATTACTGTAGATATAAATCACTACAAATATAAAGTAGTAAGTGCACAGTAACAGTTTCAAAAGAAATACTGACAATCATAAACTTGAGATAAGAGATTTTGAACTAGATGTAAATGGCTAGTGGCTGGTGCAAAAAAGTGTAAGGTGTATCTATTATTCGTCCTTAAGTGACCCTATTTTACCACGACACTTAGGATTACCTAACAAAATATATGACTTCACAGATATCGAAAGTGTTGTGAAATTAAGTAGGGATTTGCATGAAAACAATGTGGCTCCAAAGCATTTTGGGTTTTGGAAGACGACAAGGGTATAGTCTCCTCTCGATGCATGAGGTCCTGGTTGAGGTGGGGTCATGCTATT
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AGGGGAAACTAGCCCAGAAAAAAAAAATTAAAAGCCTTCTATGGATGGAATTCTCTAATTGTTTTAGTAAATGCTTGTGGTGTTATAAAGAATCGCACAGGAGCAAAGGCTGAGAAGCCTCCTCTGTATTGTCTGGCATGCACCTGTGCCGCCCATGTCAGAGCTGACTCTCCTTGCCTCCGAGAGCGATCTGGCCCTGGGAGGCACCTGCAGCCGGCGCGAAGGGCACCTTGCCAGTCCCACTCCACAGTCCCACTTCATTTAGGCCTGTCCTGTGAAAACAGGGAGTCAGAAGAATTTCCCATCCATAAAAAGGAGCTGATAATCTACCTTGAAGGTGAAAATGTAGGTCTTATAAAACACATAAAGAAACTCTTTCTTCTTAAAACACTAGAGCTTGGTCCTCCTGCCTCACTTTGCAGATGAGGAAGATGAAGTACAGAGAGCTGCAAGGTGCTGGGTGTCACATCGTGTGTTCAGACAGAAACTGGAACACCAAACCCAGGTTTCAGAGGAGACAGACAGGCTCAGAGGTCAGTCGGATACGGATTTACATCTTAGCCCGGAGCTTACTTGAGTAAGTTAGTACCTGCTCAGATTTGTTTAAGAAGATATGGCATATCCTCAATTTGCCAGGCATTGGCTAACCTCTGGAAAGAAAGGGTGGCAGAGTCTCTGACTCTCATCTTCCTCATCCGAATGAAAGGGGGGGTGTTGCCCTGCAGTGTCGATTGCGGGTTCAGTGAACTTGTGTTTGCTGGGTGTGAGCTGCGTCCCAGCACCAAGTGTGTGCTGGGTACATGGAAGCTGTTGTCAAACCATGCTGTCTTCCTGCTCATGTAACACACGGGATTGGAGCCACTCGCTCTGATTTGTTTATTTTTATGGCTCTTCAGGCTTGTTCACAAGATGGTTACAAAACACACAAGTTTGCTATTTTGAGGAGCCATTTGAAAACCTGGAGCCATAATTGCATCTAAAGATCTTTCACTAGAAAATGTTCAGCAAAAACTTCCTAAGTCCCAAATGCTCCTGAGAACGTTTCTTTGTGCTGACAGGTTTTGCTCTCAAGTATCTCAAAGTTACCCATTTTAATGGGACAGTCCTCAAAAGGGCCTTAAAGTAGTTAACTGGTCATCTTGTCATCTCTCAAGCCATGTTATGACATGTTCCCCACTAGAAACTGTGTCTTAGACAGTAAGGGAAACTCTTCCCATGCCGTAGACTCAAAACCAGAACCTTAAACTCATATACTCATTTCTGAGAATGTGTCTTTTCCCTGAACCATCAATTCTAGCTGCGGTATTTAATTTATTGGCATACTTTATGTGCTGAAAGGATAAACAAAAAAAGATGTATATCATTTCAATTCTAAAAAAATTTAGCTATATTCATGGACTTATTCCACATGATCAGAACCTAATTAATTAAAAAGAATGCTTAAGATCAAAACCCATCTGATTTCAACCTCCTTCCTTATTGAAGAACCTATAGTGTTGAAATGTCGAGACAACTATGACATGAGACAGACTTTACAGGTGAAATGCAATAAAACTTCAGATCTAAATATGCATTTGGATGATGTACAGAAATCCAGATATTTGGGCAAGAAATGTCTGTCTCAAGGCCTCTCTCCTCTGGGATTCCTGGCAGTTTCATGCTGGAAGGGACGTCTTAGAGGCCATCGAATTCAATTCTGTAATTACGAGAAAAGATGCCTGGAAGCAACCTGCCCAAGGTCACAGAGCAGGTCAGAGCTGAACTCAGGACTAGAACCCAGGCCTGTGCAGGAGCTTTGTTAGGGGCGGTGGGCTTCATGGTGCACCACTCTCCTGGGGCTGTGCCATTGGCATGCCCACGAATCCTGGATCAGTTGCCCATCAAGTTAAGTAGGGGCCTAGTTAAATCAGGTCGCACCGAGCCGTACAATGGAGATGATGTCAGGTAAGAGGGATGACAGAGACAGAGTCATGGGTGTTTGCACCCCCAAGGGTAGCGGTGAGACGTGGACTTACTTTCTGGAGGGACCCTATCTTTGTGCGGGCATCTGGACAGGCTGCGGTGATGTGGGTACAGCCCAGTTACGTGGCCGGTTCCATCACACCCGGGGGTTGGACACTTGCTCTCTTTCTTTTCTGTTCTTGAGGGATCTAAAAGCGACAACAGGTGCCAAGAGAATAAATGTTTACCAATCAAAGACAAATGTGATTATTTCACAATCTGAAGAAACCTTGCTAAAGAAAGAAATAAAGCAGGTGTCGGGGGCTAGGCTGTGACATCAGACTTTTGCTTAGATAGTTCTTTGGTTTTGGGTGACTTTTTTCAACCTTACACAGTATAATCATGAATCATAAAGTATTTTAATTTTTATTCTAAAGAAAAGAAAAGCCTACCCCTCACCTTAACTCTGATTCATTATTTTCCCGTGTGTTACATGATAAGCTGTGTTGCTCAAAGGAATCAACGTAAATCGTGATGAGACAGTGACCTTCTTAGAGAACGAAATTCTGTGCCATCATCATTCAGCAATTTTCCATGAAATTCAACCAGAGAGTGTCATTCCATTCAAAAACTCTTTAGCTGAATTTCTTTCTTATTGAGTGCTCTGATCGCATACACTAGAAGCTGCAGGATTTTACTGACATTGAAATTTGCTCTCCGGAGGTCAAGTGACATTGTTTCGTAGCACACCAATTCAGCGCTTTTCTGAAAATAAACTGAACTCTCAGAAGGCACTGTAAGCAAATGACCAAAAAGGTGGAAAGCCCACCTGACAGAGGTGACGGGTAATCAACATGTTTCAGAAGCCACGGGAGCAGCCTTTTGTTTTGATTTCTTCATCTGTACTTGGAACCAGAGGAAGGCTCGTAGAATGCCGTGCATGCATACACAAAATTAAGAAGTAATGGGTTTCTACAGCCCTGTCGGCTTCTCTGCAAGTACCAGTCAAGGGCAAATTAGGGCAGAGCTTCGGTTAAAAAAAAATTCAATACTAGAGGCCAGAAATGTAATGATATTGCTAATAAAATTATTTCTATACCCAGAATTGACTACAGTTCATAAATATGCAATATAATAACTTCAGATAATATTTCTAAAGTAAAGCTCAGACCAAACAGTAAATCTAAGTGTGCAAAACACTGTATTTTTAGCCAGTTTTTGAAAACCAGTTGCTCAGATCACCAACAGATAGCGATTATTATTATTTAGTCCAGAAATGCAATAGTTAAATTTTCTTTAGGGATTAGTTCTTTTTGATATTCCATTAATCAGGCCAATCATGATTGCTAGAAAATACATGTTTTACTTTCAGTTAAGAATTCACTTTATATCAATAAAAGCTGGATTTAGAATTTTTTGAACTTTTACGGACTTTTCATTCGTTCAGGTGAACTTCAAATAGACAAAGGACTAGCAGGAATAGACAAATGCCATCATGTTCATATAAAAACACTCCCCTTTTCTTTTTTAGCTAGCATCTTATTCTGCATAATGTGCCTCTCCTGTACTGGAAACTCTTAAGCCAGCACTGGTGTTGAGGGAAATACCATTTGTACAATCATCCGTTACTTTCCTACCATTATGTCAAGAAGAATCTTTGAGAACAAATCTAAAATTATGTGGTTGTGGCTTCAATTTCTAATTACATTACTGAAACTTCTCTTACACCTGCAAACAAAAATGCCTAGCACTTTATTGCCTTTTCAGTAATTTCATAATAATGTTGGTATAAATTACTGTAGATATAAATCACTACAAATATAAAGTAGTAAGTGCACAGTAACAGTTTCAAAAGAAATACTGACAATCATAAACTTGAGATAAGAGATTTTGAACTAGATGTAAATGGCTAGTGGCTGGTGCAAAAAAGTGTAAGGTGTATCTATTATTCGTCCTTAAGTGACCCTATTTTACCACGACACTTAGGATTACCTAACAAAATATATGACTTCACAGATATCGAAAGTGTTGTGAAATTAAGTAGGGATTTGCATGAAAACAATGTGGCTCCAAAGCATTTTGGGTTTTGGAAGACGACAAGGGTATAGTCTCCTCTCGATGCATGAGGTCCTGGTTGAGGTGGGGTCATGCTATT
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Task1_train_3105
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With a mutation on Chromosome 2 in gene RNASEH1 (ribonuclease H1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2
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GGCTGAGGCACGAGAATCACTTGAACCCAGAAGGCAGAGGTTGCAATGAGATCACGCCATAGCCTGGGGTGACAGAGTGAGACCTGTCTCAAAAACCAAACCAAAAAACTGTATTACTTGTATGATAAGGAAAATAATCAAATTTGTGTATGTGGGTGGGTTTGTTTTGTTTTTCTGAGACAGGGTCTCACTCTGTCGCCCAGGCTAGAGTACAGTGGTACAATCTTGGCTCACTGCAACCTCGACCTCCCCAGCTCAAGTCATCCTCCCACCTCAGTGTCCTGAGTAACTAGACTACAGGCATGTGCCACTACCCCTGGCTAATTTTTTATTTTTTCGAGAAACAGAGTCTCCCCATGTTATCCAGGCTGGTCTCGAACTTCTTGGCTTAAGTAGTCAGGCCATTTGGGCCTCCTAAAGTGCTGGGTTACAGATGTGAACCACTGAGCCCAGGCTCACATATTTTTTTTTTTTTTTTGAGACGGGGTCTTGGAGTCTCATATCGTTGCTCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAACTTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACACACCACCATGCCCGGCTAATTTTTGTATTTTTTAATAAAGATGGGGTTTCACCATACTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTACGCCCAGCCTCAAATACGTTGTAATATACATTATGATATTAATATCATGGAAATTGTTATGTCATTAAACCACTTACATAAACCATTAATCTCTAGTAAACTTAGCTTATTTGGTCATAATGGCCATAGGACATGAACATTTAAGATACTCACCCACTGAATGTCCATCCCCTGGGTAAGCCTCTCCAGTGCCACAAAGTCCTCTTTGTTGATCACCTCTTTCCCTGCACTTGTCTTCCACCCATTTTTCTTCCAACCTTGAACCCAGTTAGTTATACCTACAAAAATGCACGATCACTGGTGAGTCAATCTTGAGTGTCCTGCCTTTTTCACCTCCTTAGTCTTACCTCTTATAATTGATCCCACTTGTATTCTGAGTCACCATCCTTGACTCTTCACTTCCTTAGCTGGCCTTAGTTGCTTTGGCCTTTGGCACAGCCTGAAATACCCTCCTCTCTTCCCTTTCCCCTAACTTGTATTCTACCTACAGCTGTCAGCTTAAGATGTCATTTCTCCCAGGAGCCTTCCCCAGCCTCGTAAGCATCCCCTACATGCTCCTATTCAGGGCATTTCCCAAAGAAGCAGTCAACACGCCATCTTAAGTGACTTATACACACACAGACTAGAAGTAAGAGCCACTTCCACTTCTGACTGCATCTCCAGTGCCTGGCAAAGAAATAAGCATGTGGAAAACATCAGAGCAGCAGAAGGGAGACTCCAAAATCCTCACTCTTTGCTCGGTACCTGACAAACCAATGTCATCCCCCCGTTCCCATTTGGGTCCTGCCCTGTTACAACACCTCCTACCAATTTCCCTTCACAGTTACTGGAAAAACAGAAGAAATCAAATGTGAAAGCTTACCATTTATCGTAAACATACTGTCTGTATACAGAACCAGTTTATTGATGTTTTGAGTCTTTGCTTGTTCAATGGCTTTGCAGGCTGCCTTGAAAAGACAAGTCGATAGTCATGCTACAGAAAATGTTCAACTCTGACATTACTAAAGTTCAAAAGTACTTCGAAATTGAAACATCCCCTCTGTACTGATTATATTCTCTGTATGAAACACTACTATACATACAATTCTCCTGTGTAGACATCTATTTGAAATAAGTTTTTAGAATTTTTCTACAAAATTCCTATTTTTCAAAATTGTTATTAAACCCGTCTCTCTTCAAATATCTTATATGTATAGGTAGAAAAAAAAAGAATTAGTTTATTTGATAATTTCATACTCAATGCTCAAAAAAGAGAGGCTTAAACGTATCTGATAACTTACATGAATTTCCGCTCTTTGGTTTGTCTGCCGCCCAGGAAGTCTAATGCCTACATTTCTGTTTCAAAACAGTACAAAAGAAAATAAAAGTATAAAGTGAATTCTCAAAGTGATTCTTCTTAATGGATAACGATAAACTAGTGTGTATTCTTATTTGAAATATAAAAGCATCATATAAAAATCAAACTAACAGACTCCCAGCAGAGAGCAGCACACAGGTTTCCACACTTGGGCACCTTCTGACTCTCATGGGTTCCACTAGGGCAAAGGAAGTAAAAGCTGGTTCTCTGCGGACCCTGGGTTAGGCCCTATGGCTGCAGCAGAAAGAATCCCAGGAGAAAACTCGGGAAGAAGAATGGAGAGAGTGAGACTTCAGATTGAAACTACTAAAAACCTCCAGGAAGTAAAAGAGGAAAATGAAATCAAGGAACCAGAAAAACCCTTAGACAAGTTATTTAAAATTTGGGGTCACCAGGAGATCCAGAGTTTCCTAAAAGAATGAGCAATTTTTGGGCCAGGGGTGGTGGCTCACACCTGTGATCTCGGCACTTTGGGAGGACAAGGTGGGAGGATCGCATGAGCCCAGAAATTTGAGCCCAGCCTGGGCAACATAGTGAGACTTCATCTCTACTGAAAAAAGGACTCCTCTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGAAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCCTGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGGTGAGGAAGGAGAATGGCGTGAACCTGGGAAGTGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCGATAGAGTGAGACTCCGTCTCAGGAAAAAAAAAAAAAAAGACTCCTCCCCAGGGCAAGAAAGAAACACCAAAGCCAGGTGCAGTGGCTCACACCCATAATCCCAACAGTTTGGGAGGCCAAGGTGGGAGGATCGCTTGAGCCCAGAAGGTGAAGTCTGCAGTGAGCTGTGTTTGTGCCACTGTACTCCATCCTGGGCAACAGTGTGAGACCGTGTCTTAAAAAAAAAAAAAAAAAAAAAAAAAGCAAAGGAAGTAAAGCTGAGGTACCTCACGTTCTGAAAAGCAATGCCGCTTAGCCCCAACACGAACCAAAGCTGCTCCTCTGCCACCCCTGCCAGAGCTACTTATCTGCAGGTTTTCCCAATAATCAAACAATGAGCAGATCCCGCCTCATCTTTTCACAAGTTGTGGAACATGATTCAGTAAAACTCAGCTTCGTTTAACTTACAAAGGATGGCCTGGCCCCCAGTAAACGCCGATTCCTGCTCGCGGCCTTCTACGCCCATTACTGGAGCAGCAGCCATCAGTGTAGACGACGACGAAGTCTCCTGTGGGAAAAGGAAGTACATGCTGCTGGGCTGACCTTACTAAAAACTGAAATTCACCTCAAAAATCCACTAGGTCGACTTAGCATTTTAAACCGAGAGGGTATTTTACAACGCTGCAGACGTTTTCTCTCTAGGAAAACATGCTCCATTCCTTACAAGGGGGCACCTAACATTTATGCTTGGAATCCACTTACATTTTGATCTTGCAGGCCAGGCAAGTTCGGGGTGAAGGCAATCACCTTGTAAAACTAGAGCCTGCTGCAGTAAAAACTACTGTTCACATCCCACACTGTGGGTTCAGAGGACAATGGCGCTGTCTCCACGGCAGGGTCACCTTCACTCCCAGGGAGCCATCCTCCAGAGACGAGCAGCGCCTCAGCATGACGGTGACCCTGCCTGCCAGAGGGCCCAGTCTCCTGACCAGTGCTGGTCTAATTTCTTCCCTGGCATATTTGCTGCTAGTTAAGTGTGGTTCCCGTCTTTGCTTCTTTCCCTCTAGATAGAGGGTATGATTGACACACAAAGGCTGTAAAGAACAAGGTAAAAAAGGACTGACGGGGGCATTCTCAGGCCACTGGTGACCAGGACACTTCAGTAGTGTGGTGGGATCAGAGGTCAGGTTGCACAGTGTTAAAAGAGCTGG
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GGCTGAGGCACGAGAATCACTTGAACCCAGAAGGCAGAGGTTGCAATGAGATCACGCCATAGCCTGGGGTGACAGAGTGAGACCTGTCTCAAAAACCAAACCAAAAAACTGTATTACTTGTATGATAAGGAAAATAATCAAATTTGTGTATGTGGGTGGGTTTGTTTTGTTTTTCTGAGACAGGGTCTCACTCTGTCGCCCAGGCTAGAGTACAGTGGTACAATCTTGGCTCACTGCAACCTCGACCTCCCCAGCTCAAGTCATCCTCCCACCTCAGTGTCCTGAGTAACTAGACTACAGGCATGTGCCACTACCCCTGGCTAATTTTTTATTTTTTCGAGAAACAGAGTCTCCCCATGTTATCCAGGCTGGTCTCGAACTTCTTGGCTTAAGTAGTCAGGCCATTTGGGCCTCCTAAAGTGCTGGGTTACAGATGTGAACCACTGAGCCCAGGCTCACATATTTTTTTTTTTTTTTTGAGACGGGGTCTTGGAGTCTCATATCGTTGCTCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAACTTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACACACCACCATGCCCGGCTAATTTTTGTATTTTTTAATAAAGATGGGGTTTCACCATACTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTACGCCCAGCCTCAAATACGTTGTAATATACATTATGATATTAATATCATGGAAATTGTTATGTCATTAAACCACTTACATAAACCATTAATCTCTAGTAAACTTAGCTTATTTGGTCATAATGGCCATAGGACATGAACATTTAAGATACTCACCCACTGAATGTCCATCCCCTGGGTAAGCCTCTCCAGTGCCACAAAGTCCTCTTTGTTGATCACCTCTTTCCCTGCACTTGTCTTCCACCCATTTTTCTTCCAACCTTGAACCCAGTTAGTTATACCTACAAAAATGCACGATCACTGGTGAGTCAATCTTGAGTGTCCTGCCTTTTTCACCTCCTTAGTCTTACCTCTTATAATTGATCCCACTTGTATTCTGAGTCACCATCCTTGACTCTTCACTTCCTTAGCTGGCCTTAGTTGCTTTGGCCTTTGGCACAGCCTGAAATACCCTCCTCTCTTCCCTTTCCCCTAACTTGTATTCTACCTACAGCTGTCAGCTTAAGATGTCATTTCTCCCAGGAGCCTTCCCCAGCCTCGTAAGCATCCCCTACATGCTCCTATTCAGGGCATTTCCCAAAGAAGCAGTCAACACGCCATCTTAAGTGACTTATACACACACAGACTAGAAGTAAGAGCCACTTCCACTTCTGACTGCATCTCCAGTGCCTGGCAAAGAAATAAGCATGTGGAAAACATCAGAGCAGCAGAAGGGAGACTCCAAAATCCTCACTCTTTGCTCGGTACCTGACAAACCAATGTCATCCCCCCGTTCCCATTTGGGTCCTGCCCTGTTACAACACCTCCTACCAATTTCCCTTCACAGTTACTGGAAAAACAGAAGAAATCAAATGTGAAAGCTTACCATTTATCGTAAACATACTGTCTGTATACAGAACCAGTTTATTGATGTTTTGAGTCTTTGCTTGTTCAATGGCTTTGCAGGCTGCCTTGAAAAGACAAGTCGATAGTCATGCTACAGAAAATGTTCAACTCTGACATTACTAAAGTTCAAAAGTACTTCGAAATTGAAACATCCCCTCTGTACTGATTATATTCTCTGTATGAAACACTACTATACATACAATTCTCCTGTGTAGACATCTATTTGAAATAAGTTTTTAGAATTTTTCTACAAAATTCCTATTTTTCAAAATTGTTATTAAACCCGTCTCTCTTCAAATATCTTATATGTATAGGTAGAAAAAAAAAGAATTAGTTTATTTGATAATTTCATACTCAATGCTCAAAAAAGAGAGGCTTAAACGTATCTGATAACTTACATGAATTTCCACTCTTTGGTTTGTCTGCCGCCCAGGAAGTCTAATGCCTACATTTCTGTTTCAAAACAGTACAAAAGAAAATAAAAGTATAAAGTGAATTCTCAAAGTGATTCTTCTTAATGGATAACGATAAACTAGTGTGTATTCTTATTTGAAATATAAAAGCATCATATAAAAATCAAACTAACAGACTCCCAGCAGAGAGCAGCACACAGGTTTCCACACTTGGGCACCTTCTGACTCTCATGGGTTCCACTAGGGCAAAGGAAGTAAAAGCTGGTTCTCTGCGGACCCTGGGTTAGGCCCTATGGCTGCAGCAGAAAGAATCCCAGGAGAAAACTCGGGAAGAAGAATGGAGAGAGTGAGACTTCAGATTGAAACTACTAAAAACCTCCAGGAAGTAAAAGAGGAAAATGAAATCAAGGAACCAGAAAAACCCTTAGACAAGTTATTTAAAATTTGGGGTCACCAGGAGATCCAGAGTTTCCTAAAAGAATGAGCAATTTTTGGGCCAGGGGTGGTGGCTCACACCTGTGATCTCGGCACTTTGGGAGGACAAGGTGGGAGGATCGCATGAGCCCAGAAATTTGAGCCCAGCCTGGGCAACATAGTGAGACTTCATCTCTACTGAAAAAAGGACTCCTCTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGAAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCCTGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGGTGAGGAAGGAGAATGGCGTGAACCTGGGAAGTGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCGATAGAGTGAGACTCCGTCTCAGGAAAAAAAAAAAAAAAGACTCCTCCCCAGGGCAAGAAAGAAACACCAAAGCCAGGTGCAGTGGCTCACACCCATAATCCCAACAGTTTGGGAGGCCAAGGTGGGAGGATCGCTTGAGCCCAGAAGGTGAAGTCTGCAGTGAGCTGTGTTTGTGCCACTGTACTCCATCCTGGGCAACAGTGTGAGACCGTGTCTTAAAAAAAAAAAAAAAAAAAAAAAAAGCAAAGGAAGTAAAGCTGAGGTACCTCACGTTCTGAAAAGCAATGCCGCTTAGCCCCAACACGAACCAAAGCTGCTCCTCTGCCACCCCTGCCAGAGCTACTTATCTGCAGGTTTTCCCAATAATCAAACAATGAGCAGATCCCGCCTCATCTTTTCACAAGTTGTGGAACATGATTCAGTAAAACTCAGCTTCGTTTAACTTACAAAGGATGGCCTGGCCCCCAGTAAACGCCGATTCCTGCTCGCGGCCTTCTACGCCCATTACTGGAGCAGCAGCCATCAGTGTAGACGACGACGAAGTCTCCTGTGGGAAAAGGAAGTACATGCTGCTGGGCTGACCTTACTAAAAACTGAAATTCACCTCAAAAATCCACTAGGTCGACTTAGCATTTTAAACCGAGAGGGTATTTTACAACGCTGCAGACGTTTTCTCTCTAGGAAAACATGCTCCATTCCTTACAAGGGGGCACCTAACATTTATGCTTGGAATCCACTTACATTTTGATCTTGCAGGCCAGGCAAGTTCGGGGTGAAGGCAATCACCTTGTAAAACTAGAGCCTGCTGCAGTAAAAACTACTGTTCACATCCCACACTGTGGGTTCAGAGGACAATGGCGCTGTCTCCACGGCAGGGTCACCTTCACTCCCAGGGAGCCATCCTCCAGAGACGAGCAGCGCCTCAGCATGACGGTGACCCTGCCTGCCAGAGGGCCCAGTCTCCTGACCAGTGCTGGTCTAATTTCTTCCCTGGCATATTTGCTGCTAGTTAAGTGTGGTTCCCGTCTTTGCTTCTTTCCCTCTAGATAGAGGGTATGATTGACACACAAAGGCTGTAAAGAACAAGGTAAAAAAGGACTGACGGGGGCATTCTCAGGCCACTGGTGACCAGGACACTTCAGTAGTGTGGTGGGATCAGAGGTCAGGTTGCACAGTGTTAAAAGAGCTGG
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Task1_train_3106
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The gene COLEC11 (collectin subfamily member 11) on Chromosome 2 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; 3MC syndrome 2
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GGCTCTACGTGATTGCCGACGTCCAGAAAGAGGGATTGAACTTCTACAGGATATGCCAGACTGCAGGGTGGGCTGAGACTCTGCCCAGTGGAAACTGTGGGAAAAGGCGTAAAGCCCACCCGCACACCGCAGCGATGGGGGTGGATGGTGAGGTGCTGGGCAGGCCCAGGCTCCGATCCTGGGGACAGGCAGAGGCTGCTGGGCCACGGGGAGCCCCGGCACCACGGAGGCGATGACCAGGTGTCACTCTTCACAGGAAGAAGGTTAGGGTCCGTCCAGGGACTAGGAACAAACTCGCAGCCGGAGGGAATCGGTTGGCAGAACTGGGAGGGCGGAGTGTAGCTCAGTTGATTAGCGAGAGAAGACTTAGGACAGCTGCGTGTTCTGGACACCGTGCCGTCTGCGAGGCATCAGAGGGACTTCCCGCCTAGCCACAGGGGCACAGATACTCGATTTTGGAGCCCAGACTGTCTGCCTGGGCCCAGATCTCAGGCTCTCCATGCCCCGTGGCTCTCAGTGATGTCAGATGTGATGCAGGGATAGGAGCAGCACGCGTGTGGTCACAGGCGTATGGGAACGGAATGAGCTCATTGAGAATGAGATCTGTTGCCAGAAAGGCCTGTGAGGTGTTCCCTGTTATTTCAGTGTGGGAGGTGGCTTCCCACCATGGCTCTGCGTCCCACCCATGTCCCTCTCATCAGGCCACTTGTGTTGCTCACTCTTGTGTGTCAGGACAGACACCGGCTTCATCCCTCCCTCCCTATCAGCTCCCTTTCACCACCGTTTCAATATATGCAAGCAATTCTTGTCTTAAAGCAAAACGACTGCAAAGCCGCAGAGCTCCTCTCTAGCGGCCTCACGTGTGCAGCTCCCCAGAGTTCTGTACCCCGGGCCCCTGTCTTTCCCTCCACATTCCTGCCGCATCATCCAGCTGGGACAGCCCTTGATCGCTAGGTGGTGGGTCTGAGGGCCGCTCCAGCCATCCTCCCACCAGACCATGGCAGCACCTGTCCTGTGGGCGCGGCCTGCCTTCCTCACTTCCTCCCAGGCCTCACCCACGGCCTGCAGGTGCTCCTGGTGATGCTGCTCTGTCCTCCCTCCCTGAGCCGTCCCTCACGCCCTGTGTGTGCCCACGATGCCCAGCTCTGCCCTGGCCCCCACTCCCCACCTGACATGTCACAGGCACCTGAGTGTTGGCAGATTCCACCTCCTTTGCCCAGCCAGCAATGGAATGGCCCCACCACCTCTTCCATTCCTGACAGACGCCACTGCGCCCTTCAGCTCCCCTCAGCCCTGCAGTGCCCCCAAGCCATGGAGGCCTGCTGGCCATCCCCACCATCTTCCTCAGATGTTCTAGCTTTTCTCACTGCACGCCCTCAGCCAGACCTGCTTCCCTGGTTCCCAACCCTGCCCTGGGCTGCTTCCCACCCCTGCACCTCCATTTCTCTTCCCCCTACAGCTGGAGAGGTTTGAAATACATGTGTCTGCCCTCCCTCCACTCCTGTGGAGGTCCTTCCCTGCTCCCCCTGCCTTTAGGATGAAGTGGGTGATGGTTATTGCGGCCTCAAAGGCCCGTGGGGCACGTTTGTTGAGTAAAATGTGCATTTCCGGGGAGGGGTCCTCGCCTCTCTTCTGAGTCCGAGTCCTCATCCAGCGTTTGTAACGCGTGGGCCTGGCCCCCGCAGGCCTCCCATGTGAGTGCAGCCAGCTGCGCAAGGCCATCGGGGAGATGGACAACCAGGTCTCTCAGCTGACCAGCGAGCTCAAGTTCATCAAGAATGGTATGTGGCTCCCGGCGCCGCCCTCGCTCCCTCCCACCTCCCAGCCCTGTCCTGAGCCCCCCGGCAAGGGCTCTGCCGTGCCCACGCCTGCCCTGCCTGCCCTGCCGGCCCCTGCTGCCTGTGGCTGTGCCTTAAGTTTGTTGCACACATACAAGTGCTCACTTTTCAACCCTGCCTTACCCCACAGCTGTCGCCGGTGTGCGCGAGACGGAGAGCAAGATCTACCTGCTGGTGAAGGAGGAGAAGCGCTACGCGGACGCCCAGCTGTCCTGCCAGGGCCGCGGGGGCACGCTGAGCATGCCCAAGGACGAGGCTGCCAATGGCCTGATGGCCGCATACCTGGCGCAAGCCGGCCTGGCCCGTGTCTTCATCGGCATCAACGACCTGGAGAAGGAGGGCGCCTTCGTGTACTCTGACCACTCCCCCATGCGGACCTTCAACAAGTGGCGCAGCGGTGAGCCCAACAATGCCTACGACGAGGAGGACTGCGTGGAGATGGTGGCCTCGGGCGGCTGGAACGACGTGGCCTGCCACACCACCATGTACTTCATGTGTGAGTTTGACAAGGAGAACATGTGAGCCTCAGGCTGGGGCTGCCCATTGGGGGCCCCACATGTCCCTGCAGGGTTGGCAGGGACAGAGCCCAGACCATGGTGCCAGCCAGGGAGCTGTCCCTCTGTGAAGGGTGGAGGCTCACTGAGTAGAGGGCTGTTGTCTAAACTGAGAAAATGGCCTATGCTTAAGAGGAAAATGAAAGTGTTCCTGGGGTGCTGTCTCTGAAGAAGCAGAGTTTCATTACCTGTATTGTAGCCCCAATGTCATTATGTAATTATTACCCAGAATTGCTCTTCCATAAAGCTTGTGCCTTTGTCCAAGCTATACAATAAAATCTTTAAGTAGTGCAGTAGTTAAGTCCAAATAGTGGCAATGGGGTCTTGAATTACTACCTTTTAATTTCTATATGGAAAAGAACTCACTTTGACCAACACTTCTGTAAATTACATTACAATATAGGTTCCTTCACACTATTATCCATGTAAAAACAATTTTGCTTTGCTTCAAACCCAGATTTCAGGAAAACAACAACAAAATTCTCCAAACTTTACTACTAAATGTGTGGAGTCATTTTGTTCTCTTAATTTTTTCAATAGCTGTATTAGTTATCTTTTATTTTAATTAACTTTTGTAGAGGTGAGGTCTTGCTATGTGGCCCAGGCTGGCCTTGAACTCCTGGGCTCAAGCGATCCTCCCACCTCTCCTGAATAGCTGGGACTGCAGGCAGGAGCCACCACACCCGGCTTGTATGAGTTATTTATTGCTGCCTAACAAATTACCCCAAAACTCAGTGGCCTAAGAAAGATTGATTACCTCCCAGATCAGGAATCGGCACAGGGCTTAGCTCAGTCTTCTACTTCAGGGCCTCTCCCAAGCTGGAACCAAGGTCACTCCTCGTGTGGTTTGTGCAGAGCTCAGGTCCTCCTGGGTTGTTGGATGGAGGGCCTCAGTTTCCCACCAGCTGTGGGTCACAGGCTCCCGCAGTTCCCTGTCACAGGGGCCCTTCCCCTGGGCTGCCCACAACATGACAGCACCTTCCTCAGAGCAGCCCAGGAGAAGAGCCGAAGAGAGAAGCCGCAGCCTTTCCTAAGCTCACCTGGACATATCCTGCTGTCTGCATCCATTTGCGTTGCCACAAAGGAAAACCCGAGGCTGGGCAACAGATCAACAAAGAGGTTTATTTGGCTCACGGTTCTGCAGGCAGCACCAGAAGCGTGGTGCCAGCATCTGCTCCTGGTGAGGCCTCAGGCTGCGTCCACTCTCAAGTGGAGGGGGAGGGAGAGCCGGCACTCACAGAGATCACATGGGGAGAGGGAAGCCACGAAGAAAGAGAGGGAGGTGCCGGGCTGTTCTGCATAATCAATCAGCTTAGGGAACTAGCAGAGTGAGAACTTGCTCACTAGGGTAAGGACTGAGGACAGCACCCAAGATACTCATGAGGGTTCCGCTCCCGACCCAAACACCTATTTGGCCCCACCTCCACCATGAGGGTCACATTTCAACATGAGATCTGGAGAGGCCCAACAGCAAACCACAGCACGTGCCTTCCCTCTGTGGTGCTCTACCAGCTTGAGGCGAGGCACCGGGTGCAGCCCATACATGGGGGTGAATACCAGGGGGTGGGGACCACTGGGGGTCAGTTCAGAAGCTGCCTGCCACAGTACCTCATGGTTTTTTTTTTTTTGTATTTCAGAATCCCAATAAAAATAACAAGTATCTTCATTTTTAAAATAGAACACACGTACATGTACATTCCCTCC
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GGCTCTACGTGATTGCCGACGTCCAGAAAGAGGGATTGAACTTCTACAGGATATGCCAGACTGCAGGGTGGGCTGAGACTCTGCCCAGTGGAAACTGTGGGAAAAGGCGTAAAGCCCACCCGCACACCGCAGCGATGGGGGTGGATGGTGAGGTGCTGGGCAGGCCCAGGCTCCGATCCTGGGGACAGGCAGAGGCTGCTGGGCCACGGGGAGCCCCGGCACCACGGAGGCGATGACCAGGTGTCACTCTTCACAGGAAGAAGGTTAGGGTCCGTCCAGGGACTAGGAACAAACTCGCAGCCGGAGGGAATCGGTTGGCAGAACTGGGAGGGCGGAGTGTAGCTCAGTTGATTAGCGAGAGAAGACTTAGGACAGCTGCGTGTTCTGGACACCGTGCCGTCTGCGAGGCATCAGAGGGACTTCCCGCCTAGCCACAGGGGCACAGATACTCGATTTTGGAGCCCAGACTGTCTGCCTGGGCCCAGATCTCAGGCTCTCCATGCCCCGTGGCTCTCAGTGATGTCAGATGTGATGCAGGGATAGGAGCAGCACGCGTGTGGTCACAGGCGTATGGGAACGGAATGAGCTCATTGAGAATGAGATCTGTTGCCAGAAAGGCCTGTGAGGTGTTCCCTGTTATTTCAGTGTGGGAGGTGGCTTCCCACCATGGCTCTGCGTCCCACCCATGTCCCTCTCATCAGGCCACTTGTGTTGCTCACTCTTGTGTGTCAGGACAGACACCGGCTTCATCCCTCCCTCCCTATCAGCTCCCTTTCACCACCGTTTCAATATATGCAAGCAATTCTTGTCTTAAAGCAAAACGACTGCAAAGCCGCAGAGCTCCTCTCTAGCGGCCTCACGTGTGCAGCTCCCCAGAGTTCTGTACCCCGGGCCCCTGTCTTTCCCTCCACATTCCTGCCGCATCATCCAGCTGGGACAGCCCTTGATCGCTAGGTGGTGGGTCTGAGGGCCGCTCCAGCCATCCTCCCACCAGACCATGGCAGCACCTGTCCTGTGGGCGCGGCCTGCCTTCCTCACTTCCTCCCAGGCCTCACCCACGGCCTGCAGGTGCTCCTGGTGATGCTGCTCTGTCCTCCCTCCCTGAGCCGTCCCTCACGCCCTGTGTGTGCCCACGATGCCCAGCTCTGCCCTGGCCCCCACTCCCCACCTGACATGTCACAGGCACCTGAGTGTTGGCAGATTCCACCTCCTTTGCCCAGCCAGCAATGGAATGGCCCCACCACCTCTTCCATTCCTGACAGACGCCACTGCGCCCTTCAGCTCCCCTCAGCCCTGCAGTGCCCCCAAGCCATGGAGGCCTGCTGGCCATCCCCACCATCTTCCTCAGATGTTCTAGCTTTTCTCACTGCACGCCCTCAGCCAGACCTGCTTCCCTGGTTCCCAACCCTGCCCTGGGCTGCTTCCCACCCCTGCACCTCCATTTCTCTTCCCCCTACAGCTGGAGAGGTTTGAAATACATGTGTCTGCCCTCCCTCCACTCCTGTGGAGGTCCTTCCCTGCTCCCCCTGCCTTTAGGATGAAGTGGGTGATGGTTATTGCGGCCTCAAAGGCCCGTGGGGCACGTTTGTTGAGTAAAATGTGCATTTCCGGGGAGGGGTCCTCGCCTCTCTTCTGAGTCCGAGTCCTCATCCAGCGTTTGTAACGCGTGGGCCTGGCCCCCGCAGGCCTCCCATGTGAGTGCAGCCAGCTGCGCAAGGCCATCGGGGAGATGGACAACCAGGTCTCTCAGCTGACCAGCGAGCTCAAGTTCATCAAGAATGGTATGTGGCTCCCGGCGCCGCCCTCGCTCCCTCCCACCTCCCAGCCCTGTCCTGAGCCCCCCGGCAAGGGCTCTGCCGTGCCCACGCCTGCCCTGCCTGCCCTGCCGGCCCCTGCTGCCTGTGGCTGTGCCTTAAGTTTGTTGCACACATACAAGTGCTCACTTTTCAACCCTGCCTTACCCCACAGCTGTCGCCGGTGTGCGCGAGACGGAGAGCAAGATCTACCTGCTGGTGAAGGAGGAGAAGCGCTACGCGGACGCCCAGCTGCCCTGCCAGGGCCGCGGGGGCACGCTGAGCATGCCCAAGGACGAGGCTGCCAATGGCCTGATGGCCGCATACCTGGCGCAAGCCGGCCTGGCCCGTGTCTTCATCGGCATCAACGACCTGGAGAAGGAGGGCGCCTTCGTGTACTCTGACCACTCCCCCATGCGGACCTTCAACAAGTGGCGCAGCGGTGAGCCCAACAATGCCTACGACGAGGAGGACTGCGTGGAGATGGTGGCCTCGGGCGGCTGGAACGACGTGGCCTGCCACACCACCATGTACTTCATGTGTGAGTTTGACAAGGAGAACATGTGAGCCTCAGGCTGGGGCTGCCCATTGGGGGCCCCACATGTCCCTGCAGGGTTGGCAGGGACAGAGCCCAGACCATGGTGCCAGCCAGGGAGCTGTCCCTCTGTGAAGGGTGGAGGCTCACTGAGTAGAGGGCTGTTGTCTAAACTGAGAAAATGGCCTATGCTTAAGAGGAAAATGAAAGTGTTCCTGGGGTGCTGTCTCTGAAGAAGCAGAGTTTCATTACCTGTATTGTAGCCCCAATGTCATTATGTAATTATTACCCAGAATTGCTCTTCCATAAAGCTTGTGCCTTTGTCCAAGCTATACAATAAAATCTTTAAGTAGTGCAGTAGTTAAGTCCAAATAGTGGCAATGGGGTCTTGAATTACTACCTTTTAATTTCTATATGGAAAAGAACTCACTTTGACCAACACTTCTGTAAATTACATTACAATATAGGTTCCTTCACACTATTATCCATGTAAAAACAATTTTGCTTTGCTTCAAACCCAGATTTCAGGAAAACAACAACAAAATTCTCCAAACTTTACTACTAAATGTGTGGAGTCATTTTGTTCTCTTAATTTTTTCAATAGCTGTATTAGTTATCTTTTATTTTAATTAACTTTTGTAGAGGTGAGGTCTTGCTATGTGGCCCAGGCTGGCCTTGAACTCCTGGGCTCAAGCGATCCTCCCACCTCTCCTGAATAGCTGGGACTGCAGGCAGGAGCCACCACACCCGGCTTGTATGAGTTATTTATTGCTGCCTAACAAATTACCCCAAAACTCAGTGGCCTAAGAAAGATTGATTACCTCCCAGATCAGGAATCGGCACAGGGCTTAGCTCAGTCTTCTACTTCAGGGCCTCTCCCAAGCTGGAACCAAGGTCACTCCTCGTGTGGTTTGTGCAGAGCTCAGGTCCTCCTGGGTTGTTGGATGGAGGGCCTCAGTTTCCCACCAGCTGTGGGTCACAGGCTCCCGCAGTTCCCTGTCACAGGGGCCCTTCCCCTGGGCTGCCCACAACATGACAGCACCTTCCTCAGAGCAGCCCAGGAGAAGAGCCGAAGAGAGAAGCCGCAGCCTTTCCTAAGCTCACCTGGACATATCCTGCTGTCTGCATCCATTTGCGTTGCCACAAAGGAAAACCCGAGGCTGGGCAACAGATCAACAAAGAGGTTTATTTGGCTCACGGTTCTGCAGGCAGCACCAGAAGCGTGGTGCCAGCATCTGCTCCTGGTGAGGCCTCAGGCTGCGTCCACTCTCAAGTGGAGGGGGAGGGAGAGCCGGCACTCACAGAGATCACATGGGGAGAGGGAAGCCACGAAGAAAGAGAGGGAGGTGCCGGGCTGTTCTGCATAATCAATCAGCTTAGGGAACTAGCAGAGTGAGAACTTGCTCACTAGGGTAAGGACTGAGGACAGCACCCAAGATACTCATGAGGGTTCCGCTCCCGACCCAAACACCTATTTGGCCCCACCTCCACCATGAGGGTCACATTTCAACATGAGATCTGGAGAGGCCCAACAGCAAACCACAGCACGTGCCTTCCCTCTGTGGTGCTCTACCAGCTTGAGGCGAGGCACCGGGTGCAGCCCATACATGGGGGTGAATACCAGGGGGTGGGGACCACTGGGGGTCAGTTCAGAAGCTGCCTGCCACAGTACCTCATGGTTTTTTTTTTTTTGTATTTCAGAATCCCAATAAAAATAACAAGTATCTTCATTTTTAAAATAGAACACACGTACATGTACATTCCCTCC
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Task1_train_3107
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A variant was discovered on Chromosome 2, affecting COLEC11 (collectin subfamily member 11). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; not provided
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GGCGTAAAGCCCACCCGCACACCGCAGCGATGGGGGTGGATGGTGAGGTGCTGGGCAGGCCCAGGCTCCGATCCTGGGGACAGGCAGAGGCTGCTGGGCCACGGGGAGCCCCGGCACCACGGAGGCGATGACCAGGTGTCACTCTTCACAGGAAGAAGGTTAGGGTCCGTCCAGGGACTAGGAACAAACTCGCAGCCGGAGGGAATCGGTTGGCAGAACTGGGAGGGCGGAGTGTAGCTCAGTTGATTAGCGAGAGAAGACTTAGGACAGCTGCGTGTTCTGGACACCGTGCCGTCTGCGAGGCATCAGAGGGACTTCCCGCCTAGCCACAGGGGCACAGATACTCGATTTTGGAGCCCAGACTGTCTGCCTGGGCCCAGATCTCAGGCTCTCCATGCCCCGTGGCTCTCAGTGATGTCAGATGTGATGCAGGGATAGGAGCAGCACGCGTGTGGTCACAGGCGTATGGGAACGGAATGAGCTCATTGAGAATGAGATCTGTTGCCAGAAAGGCCTGTGAGGTGTTCCCTGTTATTTCAGTGTGGGAGGTGGCTTCCCACCATGGCTCTGCGTCCCACCCATGTCCCTCTCATCAGGCCACTTGTGTTGCTCACTCTTGTGTGTCAGGACAGACACCGGCTTCATCCCTCCCTCCCTATCAGCTCCCTTTCACCACCGTTTCAATATATGCAAGCAATTCTTGTCTTAAAGCAAAACGACTGCAAAGCCGCAGAGCTCCTCTCTAGCGGCCTCACGTGTGCAGCTCCCCAGAGTTCTGTACCCCGGGCCCCTGTCTTTCCCTCCACATTCCTGCCGCATCATCCAGCTGGGACAGCCCTTGATCGCTAGGTGGTGGGTCTGAGGGCCGCTCCAGCCATCCTCCCACCAGACCATGGCAGCACCTGTCCTGTGGGCGCGGCCTGCCTTCCTCACTTCCTCCCAGGCCTCACCCACGGCCTGCAGGTGCTCCTGGTGATGCTGCTCTGTCCTCCCTCCCTGAGCCGTCCCTCACGCCCTGTGTGTGCCCACGATGCCCAGCTCTGCCCTGGCCCCCACTCCCCACCTGACATGTCACAGGCACCTGAGTGTTGGCAGATTCCACCTCCTTTGCCCAGCCAGCAATGGAATGGCCCCACCACCTCTTCCATTCCTGACAGACGCCACTGCGCCCTTCAGCTCCCCTCAGCCCTGCAGTGCCCCCAAGCCATGGAGGCCTGCTGGCCATCCCCACCATCTTCCTCAGATGTTCTAGCTTTTCTCACTGCACGCCCTCAGCCAGACCTGCTTCCCTGGTTCCCAACCCTGCCCTGGGCTGCTTCCCACCCCTGCACCTCCATTTCTCTTCCCCCTACAGCTGGAGAGGTTTGAAATACATGTGTCTGCCCTCCCTCCACTCCTGTGGAGGTCCTTCCCTGCTCCCCCTGCCTTTAGGATGAAGTGGGTGATGGTTATTGCGGCCTCAAAGGCCCGTGGGGCACGTTTGTTGAGTAAAATGTGCATTTCCGGGGAGGGGTCCTCGCCTCTCTTCTGAGTCCGAGTCCTCATCCAGCGTTTGTAACGCGTGGGCCTGGCCCCCGCAGGCCTCCCATGTGAGTGCAGCCAGCTGCGCAAGGCCATCGGGGAGATGGACAACCAGGTCTCTCAGCTGACCAGCGAGCTCAAGTTCATCAAGAATGGTATGTGGCTCCCGGCGCCGCCCTCGCTCCCTCCCACCTCCCAGCCCTGTCCTGAGCCCCCCGGCAAGGGCTCTGCCGTGCCCACGCCTGCCCTGCCTGCCCTGCCGGCCCCTGCTGCCTGTGGCTGTGCCTTAAGTTTGTTGCACACATACAAGTGCTCACTTTTCAACCCTGCCTTACCCCACAGCTGTCGCCGGTGTGCGCGAGACGGAGAGCAAGATCTACCTGCTGGTGAAGGAGGAGAAGCGCTACGCGGACGCCCAGCTGTCCTGCCAGGGCCGCGGGGGCACGCTGAGCATGCCCAAGGACGAGGCTGCCAATGGCCTGATGGCCGCATACCTGGCGCAAGCCGGCCTGGCCCGTGTCTTCATCGGCATCAACGACCTGGAGAAGGAGGGCGCCTTCGTGTACTCTGACCACTCCCCCATGCGGACCTTCAACAAGTGGCGCAGCGGTGAGCCCAACAATGCCTACGACGAGGAGGACTGCGTGGAGATGGTGGCCTCGGGCGGCTGGAACGACGTGGCCTGCCACACCACCATGTACTTCATGTGTGAGTTTGACAAGGAGAACATGTGAGCCTCAGGCTGGGGCTGCCCATTGGGGGCCCCACATGTCCCTGCAGGGTTGGCAGGGACAGAGCCCAGACCATGGTGCCAGCCAGGGAGCTGTCCCTCTGTGAAGGGTGGAGGCTCACTGAGTAGAGGGCTGTTGTCTAAACTGAGAAAATGGCCTATGCTTAAGAGGAAAATGAAAGTGTTCCTGGGGTGCTGTCTCTGAAGAAGCAGAGTTTCATTACCTGTATTGTAGCCCCAATGTCATTATGTAATTATTACCCAGAATTGCTCTTCCATAAAGCTTGTGCCTTTGTCCAAGCTATACAATAAAATCTTTAAGTAGTGCAGTAGTTAAGTCCAAATAGTGGCAATGGGGTCTTGAATTACTACCTTTTAATTTCTATATGGAAAAGAACTCACTTTGACCAACACTTCTGTAAATTACATTACAATATAGGTTCCTTCACACTATTATCCATGTAAAAACAATTTTGCTTTGCTTCAAACCCAGATTTCAGGAAAACAACAACAAAATTCTCCAAACTTTACTACTAAATGTGTGGAGTCATTTTGTTCTCTTAATTTTTTCAATAGCTGTATTAGTTATCTTTTATTTTAATTAACTTTTGTAGAGGTGAGGTCTTGCTATGTGGCCCAGGCTGGCCTTGAACTCCTGGGCTCAAGCGATCCTCCCACCTCTCCTGAATAGCTGGGACTGCAGGCAGGAGCCACCACACCCGGCTTGTATGAGTTATTTATTGCTGCCTAACAAATTACCCCAAAACTCAGTGGCCTAAGAAAGATTGATTACCTCCCAGATCAGGAATCGGCACAGGGCTTAGCTCAGTCTTCTACTTCAGGGCCTCTCCCAAGCTGGAACCAAGGTCACTCCTCGTGTGGTTTGTGCAGAGCTCAGGTCCTCCTGGGTTGTTGGATGGAGGGCCTCAGTTTCCCACCAGCTGTGGGTCACAGGCTCCCGCAGTTCCCTGTCACAGGGGCCCTTCCCCTGGGCTGCCCACAACATGACAGCACCTTCCTCAGAGCAGCCCAGGAGAAGAGCCGAAGAGAGAAGCCGCAGCCTTTCCTAAGCTCACCTGGACATATCCTGCTGTCTGCATCCATTTGCGTTGCCACAAAGGAAAACCCGAGGCTGGGCAACAGATCAACAAAGAGGTTTATTTGGCTCACGGTTCTGCAGGCAGCACCAGAAGCGTGGTGCCAGCATCTGCTCCTGGTGAGGCCTCAGGCTGCGTCCACTCTCAAGTGGAGGGGGAGGGAGAGCCGGCACTCACAGAGATCACATGGGGAGAGGGAAGCCACGAAGAAAGAGAGGGAGGTGCCGGGCTGTTCTGCATAATCAATCAGCTTAGGGAACTAGCAGAGTGAGAACTTGCTCACTAGGGTAAGGACTGAGGACAGCACCCAAGATACTCATGAGGGTTCCGCTCCCGACCCAAACACCTATTTGGCCCCACCTCCACCATGAGGGTCACATTTCAACATGAGATCTGGAGAGGCCCAACAGCAAACCACAGCACGTGCCTTCCCTCTGTGGTGCTCTACCAGCTTGAGGCGAGGCACCGGGTGCAGCCCATACATGGGGGTGAATACCAGGGGGTGGGGACCACTGGGGGTCAGTTCAGAAGCTGCCTGCCACAGTACCTCATGGTTTTTTTTTTTTTGTATTTCAGAATCCCAATAAAAATAACAAGTATCTTCATTTTTAAAATAGAACACACGTACATGTACATTCCCTCCCAGCTGGTGTTGTGGGGCGAGAGGGAGCTGTGGAGCTGGCTCCCAGGGGTGGGTGTATTTGTGCACATCCTGTGAGGGAGGCCCCGACGGCCCTTTGTTCTAAGT
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GGCGTAAAGCCCACCCGCACACCGCAGCGATGGGGGTGGATGGTGAGGTGCTGGGCAGGCCCAGGCTCCGATCCTGGGGACAGGCAGAGGCTGCTGGGCCACGGGGAGCCCCGGCACCACGGAGGCGATGACCAGGTGTCACTCTTCACAGGAAGAAGGTTAGGGTCCGTCCAGGGACTAGGAACAAACTCGCAGCCGGAGGGAATCGGTTGGCAGAACTGGGAGGGCGGAGTGTAGCTCAGTTGATTAGCGAGAGAAGACTTAGGACAGCTGCGTGTTCTGGACACCGTGCCGTCTGCGAGGCATCAGAGGGACTTCCCGCCTAGCCACAGGGGCACAGATACTCGATTTTGGAGCCCAGACTGTCTGCCTGGGCCCAGATCTCAGGCTCTCCATGCCCCGTGGCTCTCAGTGATGTCAGATGTGATGCAGGGATAGGAGCAGCACGCGTGTGGTCACAGGCGTATGGGAACGGAATGAGCTCATTGAGAATGAGATCTGTTGCCAGAAAGGCCTGTGAGGTGTTCCCTGTTATTTCAGTGTGGGAGGTGGCTTCCCACCATGGCTCTGCGTCCCACCCATGTCCCTCTCATCAGGCCACTTGTGTTGCTCACTCTTGTGTGTCAGGACAGACACCGGCTTCATCCCTCCCTCCCTATCAGCTCCCTTTCACCACCGTTTCAATATATGCAAGCAATTCTTGTCTTAAAGCAAAACGACTGCAAAGCCGCAGAGCTCCTCTCTAGCGGCCTCACGTGTGCAGCTCCCCAGAGTTCTGTACCCCGGGCCCCTGTCTTTCCCTCCACATTCCTGCCGCATCATCCAGCTGGGACAGCCCTTGATCGCTAGGTGGTGGGTCTGAGGGCCGCTCCAGCCATCCTCCCACCAGACCATGGCAGCACCTGTCCTGTGGGCGCGGCCTGCCTTCCTCACTTCCTCCCAGGCCTCACCCACGGCCTGCAGGTGCTCCTGGTGATGCTGCTCTGTCCTCCCTCCCTGAGCCGTCCCTCACGCCCTGTGTGTGCCCACGATGCCCAGCTCTGCCCTGGCCCCCACTCCCCACCTGACATGTCACAGGCACCTGAGTGTTGGCAGATTCCACCTCCTTTGCCCAGCCAGCAATGGAATGGCCCCACCACCTCTTCCATTCCTGACAGACGCCACTGCGCCCTTCAGCTCCCCTCAGCCCTGCAGTGCCCCCAAGCCATGGAGGCCTGCTGGCCATCCCCACCATCTTCCTCAGATGTTCTAGCTTTTCTCACTGCACGCCCTCAGCCAGACCTGCTTCCCTGGTTCCCAACCCTGCCCTGGGCTGCTTCCCACCCCTGCACCTCCATTTCTCTTCCCCCTACAGCTGGAGAGGTTTGAAATACATGTGTCTGCCCTCCCTCCACTCCTGTGGAGGTCCTTCCCTGCTCCCCCTGCCTTTAGGATGAAGTGGGTGATGGTTATTGCGGCCTCAAAGGCCCGTGGGGCACGTTTGTTGAGTAAAATGTGCATTTCCGGGGAGGGGTCCTCGCCTCTCTTCTGAGTCCGAGTCCTCATCCAGCGTTTGTAACGCGTGGGCCTGGCCCCCGCAGGCCTCCCATGTGAGTGCAGCCAGCTGCGCAAGGCCATCGGGGAGATGGACAACCAGGTCTCTCAGCTGACCAGCGAGCTCAAGTTCATCAAGAATGGTATGTGGCTCCCGGCGCCGCCCTCGCTCCCTCCCACCTCCCAGCCCTGTCCTGAGCCCCCCGGCAAGGGCTCTGCCGTGCCCACGCCTGCCCTGCCTGCCCTGCCGGCCCCTGCTGCCTGTGGCTGTGCCTTAAGTTTGTTGCACACATACAAGTGCTCACTTTTCAACCCTGCCTTACCCCACAGCTGTCGCCGGTGTGCGCGAGACGGAGAGCAAGATCTACCTGCTGGTGAAGGAGGAGAAGCGCTACGCGGACGCCCAGCTGTCCTGCCAGGGCCGCGGGGGCACGCTGAGCATGCCCAAGGACGAGGCTGCCAATGGCCTGATGGCCGCATACCTGGCGCAAGCCGGCCTGGCCCGTGTCTTCATCAGCATCAACGACCTGGAGAAGGAGGGCGCCTTCGTGTACTCTGACCACTCCCCCATGCGGACCTTCAACAAGTGGCGCAGCGGTGAGCCCAACAATGCCTACGACGAGGAGGACTGCGTGGAGATGGTGGCCTCGGGCGGCTGGAACGACGTGGCCTGCCACACCACCATGTACTTCATGTGTGAGTTTGACAAGGAGAACATGTGAGCCTCAGGCTGGGGCTGCCCATTGGGGGCCCCACATGTCCCTGCAGGGTTGGCAGGGACAGAGCCCAGACCATGGTGCCAGCCAGGGAGCTGTCCCTCTGTGAAGGGTGGAGGCTCACTGAGTAGAGGGCTGTTGTCTAAACTGAGAAAATGGCCTATGCTTAAGAGGAAAATGAAAGTGTTCCTGGGGTGCTGTCTCTGAAGAAGCAGAGTTTCATTACCTGTATTGTAGCCCCAATGTCATTATGTAATTATTACCCAGAATTGCTCTTCCATAAAGCTTGTGCCTTTGTCCAAGCTATACAATAAAATCTTTAAGTAGTGCAGTAGTTAAGTCCAAATAGTGGCAATGGGGTCTTGAATTACTACCTTTTAATTTCTATATGGAAAAGAACTCACTTTGACCAACACTTCTGTAAATTACATTACAATATAGGTTCCTTCACACTATTATCCATGTAAAAACAATTTTGCTTTGCTTCAAACCCAGATTTCAGGAAAACAACAACAAAATTCTCCAAACTTTACTACTAAATGTGTGGAGTCATTTTGTTCTCTTAATTTTTTCAATAGCTGTATTAGTTATCTTTTATTTTAATTAACTTTTGTAGAGGTGAGGTCTTGCTATGTGGCCCAGGCTGGCCTTGAACTCCTGGGCTCAAGCGATCCTCCCACCTCTCCTGAATAGCTGGGACTGCAGGCAGGAGCCACCACACCCGGCTTGTATGAGTTATTTATTGCTGCCTAACAAATTACCCCAAAACTCAGTGGCCTAAGAAAGATTGATTACCTCCCAGATCAGGAATCGGCACAGGGCTTAGCTCAGTCTTCTACTTCAGGGCCTCTCCCAAGCTGGAACCAAGGTCACTCCTCGTGTGGTTTGTGCAGAGCTCAGGTCCTCCTGGGTTGTTGGATGGAGGGCCTCAGTTTCCCACCAGCTGTGGGTCACAGGCTCCCGCAGTTCCCTGTCACAGGGGCCCTTCCCCTGGGCTGCCCACAACATGACAGCACCTTCCTCAGAGCAGCCCAGGAGAAGAGCCGAAGAGAGAAGCCGCAGCCTTTCCTAAGCTCACCTGGACATATCCTGCTGTCTGCATCCATTTGCGTTGCCACAAAGGAAAACCCGAGGCTGGGCAACAGATCAACAAAGAGGTTTATTTGGCTCACGGTTCTGCAGGCAGCACCAGAAGCGTGGTGCCAGCATCTGCTCCTGGTGAGGCCTCAGGCTGCGTCCACTCTCAAGTGGAGGGGGAGGGAGAGCCGGCACTCACAGAGATCACATGGGGAGAGGGAAGCCACGAAGAAAGAGAGGGAGGTGCCGGGCTGTTCTGCATAATCAATCAGCTTAGGGAACTAGCAGAGTGAGAACTTGCTCACTAGGGTAAGGACTGAGGACAGCACCCAAGATACTCATGAGGGTTCCGCTCCCGACCCAAACACCTATTTGGCCCCACCTCCACCATGAGGGTCACATTTCAACATGAGATCTGGAGAGGCCCAACAGCAAACCACAGCACGTGCCTTCCCTCTGTGGTGCTCTACCAGCTTGAGGCGAGGCACCGGGTGCAGCCCATACATGGGGGTGAATACCAGGGGGTGGGGACCACTGGGGGTCAGTTCAGAAGCTGCCTGCCACAGTACCTCATGGTTTTTTTTTTTTTGTATTTCAGAATCCCAATAAAAATAACAAGTATCTTCATTTTTAAAATAGAACACACGTACATGTACATTCCCTCCCAGCTGGTGTTGTGGGGCGAGAGGGAGCTGTGGAGCTGGCTCCCAGGGGTGGGTGTATTTGTGCACATCCTGTGAGGGAGGCCCCGACGGCCCTTTGTTCTAAGT
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Task1_train_3108
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The gene SOX11 (SRY-box transcription factor 11), on Chromosome 2, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
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ACCTGAAAGGAAGCAGATTCGGATAATTTTCCCAGTCCTACACGGCTGATTTCTCTGGTGAAGGGATCCGGGCAGTGTCTTAGGAACTGCTCAAAGTTCCCAGATACCCAGTGCTGGGGGGTGTGGAGAAGGCGAGGGTGGCGACAGACCATACCTATGAAGCGGTGATTTTCTTTAATTGCCCCCAGAATATCCGTAGAGGTAGTAGGGACTCAATAAAGAAACACAAAGGAGACGAACACGGCACGATCGCCGGGGTCCGCGGCTGCTCTGCGAGGCCCAGCGCGCCCCAGGTCGCGGCTCCCCGGCCGCCAGCGCACCTTTCCATCTCCAGGGAAAATATTTAGACGGGAAACTCGAGTGCACCTTATTTTCTCTTTGGTTTATGAGTGACCCAGAAGGCTTCTAGCTCACAATCGCACGATTTCAGGACGAGGCTGCCGGAGAAGCGCTGGCGACCGAGGATGGGGGAAGGACAAAGAGGAAGAGGAGGCCTGGGAAGGAGAAAGGAGCGGCGGAGGGGCGGGGAGAGGACGGGGCGGGGAGAGGAGGGGCGGGGAGCAGAGGGAGAAGGGAAGGAGGGCGCCGGGCCCCTCGCAGGGACGCCGGGCGGGGCGCGGGCTTGCTGGAGCCTGCGGGACCCAGAGCCCGCTCCGGAGCCAGCCCTGGGAGTGGCCAGCTTGAACCCGAGGGCCCCGCAGACCGTTACTCCGGCCCCCGCCCGGGGCGGGGCGCGCGGGGGCGCGGCGCAGCCCAACCCGCACAGCCGCGTCCCCAAACACCACCGAGGAGGGAAAACAGACGGAGAAAAAGGACAAAACAGAAAAATGCAAAACGGGGGAGGGAGCTCACCGCCTCTCGAGCTTTAAATTGATTTCTTTGCCTTACAAAAAGGGAGAAAGGGAAAAGGAGAGCAGAGCCCACGTGCCGGGAAGGTTGCTGTCTTCAAGCGCCACCTTCCGTCGGCCAGGGCCGCCGCGGGGCTACCGGGCGGGCTCGGGGCGGCGACCCGGGGGAGCGGCCGAGCCCCGCGAGGGGCTCGCCGGGGAGCAGCTGCGCCCACCCCGGGGCAGGCCGGGCGCGGCTGACCGCGAGCCGGGCGGAGGCCGCCGTCTCAGGCTGGGCGCGTGCCCGAGTGTGTGCACCCGGGGAGTGAGCGCGCGCCGTCCGCTGTCGCCGTCGGGCCTCCCGGGGACTGGGCACAAAGGCGCGCGGGGCCTCTCCCGGGACCCGGTCCTCGGTTAGCGCCGGCGCCCGAACCATCCCGGTTCGCCCCGGGCCGCCCGCTCCCCGTGGTGCCGCGCGCCGCTTCCGAGCATCCCGGGAACAGGCGCATCTGTGCACACACGCGGATTTTTTAAAAATAACATATTTCTAGACATGCCTCCTCTCCCCCCACCCCCATCTTTGCAAAGCAGCCCGGAGGGCGGGGTGGAGGGGCGGGGCCTCCGAGTTAATAAAGGAAGATGGGCGGAGCCGGCCCCCAGCCATTGGCTAGCTGGGGGAGTGATGTCACCCATATGACACCCTGATAACTAGTTGAGAGAGAGACCTCAACTTTTTGCAGAAGGAGCGCGCGCGCCTGGGAGAGCTCGGGGTCCGGCGCTTGCGGTAGGAGCCACGAGCCGGAGAGAGGGGTCCCGGGCTGCCTCGACCGCCGTCGCCACCGCCTCTCCTGTCGCGACCGCAGCTCCCACCGCGCCGGCGGCCGTCGTCGCCGAAGCCACCACAGCCGCTGTGTGCAGCCTGGAAGGGGGGGCGGGGGGGAGGGGGGGAGCCGCGAAAGCGGGGTGCCGAGGACTTTGCAACTTGCCCAGGAAGGTGGAGGGGTGGGAGGGGGAGGGGGACCTCCGCACGAGACCCAGCGGCCCGGGTTGGAGCGTCCAGCCCTGCAGCGGATCATGGTGCAGCAGGCGGAGAGCTTGGAAGCGGAGAGCAACCTGCCCCGGGAGGCGCTGGACACGGAGGAGGGCGAATTCATGGCTTGCAGCCCGGTGGCCCTGGACGAGAGCGACCCAGACTGGTGCAAGACGGCGTCGGGCCACATCAAGCGGCCGATGAACGCGTTCATGGTATGGTCCAAGATCGAACGCAGGAAGATCATGGAGCAGTCTCCGGACATGCACAACGCCGAGATCTCCAAGAGGCTGGGCAAGCGCTGGAAAATGCTGAAGGACAGCGAGAAGATCCCGTTCATCCGGGAGGCGGAGCGGCTGCGGCTCAAGCACATGGCCGACTACCCCGACTACAAGTACCGGCCCCGGAAAAAGCCCAAAATGGACCCCTCGGCCAAGCCCAGCGCCAGCCAGAGCCCAGAGAAGAGCGCGGCCGGCGGCGGCGGCGGGAGCGCGGGCGGAGGCGCGGGCGGTGCCAAGACCTCCAAGGGCTCCAGCAAGAAATGCGGCAAGCTCAAGGCCCCCGCGGCCGCGGGCGCCAAGGCGGGCGCGGGCAAGGCGGCCCAGTCCGGGGACTACGGGGGCGCGGGCGACGACTACGTGCTGGGCAGCCTGCGCGTGAGCGGCTCGGGCGGCGGCGGCGCGGGCAAGACGGTCAAGTGCGTGTTTCTGGATGAGGACGACGACGACGACGACGACGACGACGAGCTGCAGCTGCAGATCAAACAGGAGCCGGACGAGGAGGACGAGGAACCACCGCACCAGCAGCTCCTGCAGCCGCCGGGGCAGCAGCCGTCGCAGCTGCTGAGACGCTACAACGTCGCCAAAGTGCCCGCCAGCCCTACGCTGAGCAGCTCGGCGGAGTCCCCCGAGGGAGCGAGCCTCTACGACGAGGTGCGGGCCGGCGCGACCTCGGGCGCCGGGGGCGGCAGCCGCCTCTACTACAGCTTCAAGAACATCACCAAGCAGCACCCGCCGCCGCTCGCGCAGCCCGCGCTGTCGCCCGCGTCCTCGCGCTCGGTGTCCACCTCCTCGTCCAGCAGCAGCGGCAGCAGCAGCGGCAGCAGCGGCGAGGACGCCGACGACCTGATGTTCGACCTGAGCTTGAATTTCTCTCAAAGCGCGCACAGCGCCAGCGAGCAGCAGCTGGGGGGCGGCGCGGCGGCCGGGAACCTGTCCCTGTCGCTGGTGGATAAGGATTTGGATTCGTTCAGCGAGGGCAGCCTGGGCTCCCACTTCGAGTTCCCCGACTACTGCACGCCGGAGCTGAGCGAGATGATCGCGGGGGACTGGCTGGAGGCGAACTTCTCCGACCTGGTGTTCACATATTGAAAGGCGCCCGCTGCTCGCTCTTTCTCTCGGAGGGTGCAGAGCTGGGTTCCTTGGGAGGAAGTTGTAGTGGTGATGATGATGATGATAATGATGATGATGATGGTGGTGTTGATGGTGGCGGTGGTAGGGTGGAGGGGAGAGAAGAAGATGCTGATGATATTGATAAGATGTCGTGACGCAAAGAAATTGGAAAACATGATGAAAATTTTGGTGGAGTTAAAGTGAAATGAGTAGTTTTTAAACATTTTTCCTGTCCTTTTTTTGTCCCCCCTCCCTTCCTTTATCGTGTCTCAAGGTAGTTGCATACCTAGTCTGGAGTTGTGATTATTTTCCCAAAAAATGTGTTTTTGTAATTACTATTTCTTTTTCCTGAAATTCGTGATTGCAACAAAGGCAGAGGGGGCGGGGCGGGGGAGGGGAGGTAGGACCCGCTCCGGAAGGCGCTGTTTGAAGCTTGTCGGTCTTTGAAGTCTGGAAGACGTCTGCAGAGGACCCTTTTGGCAGCACAACTGTTACTCTAGGGAGTTGGTGGAGATATTTTTTTTTCTTAAGAGAACTTAAAGAACTGGTGATTTTTTTTTAACAAAAAAAGGGACCATTGCAACTTTTGTTAATTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGAGGGAGAAAACTGATGTCTTCTATGCATCCGATTCTTAACAAAACTGCAGGGAGCTTGAAAAAATGCAGACTGTACAAACGCTTACAAAAAAAAAAACTGTGAACTGACTTAAGATCAGAGTTTACTTTTCAGATCAAATTGTTTATGGTTTTACAAATGTGATTTCTACTTGCCAACTTTTTTTTTGTAACTTGTTCCCTTATACCTCCTTGATT
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ACCTGAAAGGAAGCAGATTCGGATAATTTTCCCAGTCCTACACGGCTGATTTCTCTGGTGAAGGGATCCGGGCAGTGTCTTAGGAACTGCTCAAAGTTCCCAGATACCCAGTGCTGGGGGGTGTGGAGAAGGCGAGGGTGGCGACAGACCATACCTATGAAGCGGTGATTTTCTTTAATTGCCCCCAGAATATCCGTAGAGGTAGTAGGGACTCAATAAAGAAACACAAAGGAGACGAACACGGCACGATCGCCGGGGTCCGCGGCTGCTCTGCGAGGCCCAGCGCGCCCCAGGTCGCGGCTCCCCGGCCGCCAGCGCACCTTTCCATCTCCAGGGAAAATATTTAGACGGGAAACTCGAGTGCACCTTATTTTCTCTTTGGTTTATGAGTGACCCAGAAGGCTTCTAGCTCACAATCGCACGATTTCAGGACGAGGCTGCCGGAGAAGCGCTGGCGACCGAGGATGGGGGAAGGACAAAGAGGAAGAGGAGGCCTGGGAAGGAGAAAGGAGCGGCGGAGGGGCGGGGAGAGGACGGGGCGGGGAGAGGAGGGGCGGGGAGCAGAGGGAGAAGGGAAGGAGGGCGCCGGGCCCCTCGCAGGGACGCCGGGCGGGGCGCGGGCTTGCTGGAGCCTGCGGGACCCAGAGCCCGCTCCGGAGCCAGCCCTGGGAGTGGCCAGCTTGAACCCGAGGGCCCCGCAGACCGTTACTCCGGCCCCCGCCCGGGGCGGGGCGCGCGGGGGCGCGGCGCAGCCCAACCCGCACAGCCGCGTCCCCAAACACCACCGAGGAGGGAAAACAGACGGAGAAAAAGGACAAAACAGAAAAATGCAAAACGGGGGAGGGAGCTCACCGCCTCTCGAGCTTTAAATTGATTTCTTTGCCTTACAAAAAGGGAGAAAGGGAAAAGGAGAGCAGAGCCCACGTGCCGGGAAGGTTGCTGTCTTCAAGCGCCACCTTCCGTCGGCCAGGGCCGCCGCGGGGCTACCGGGCGGGCTCGGGGCGGCGACCCGGGGGAGCGGCCGAGCCCCGCGAGGGGCTCGCCGGGGAGCAGCTGCGCCCACCCCGGGGCAGGCCGGGCGCGGCTGACCGCGAGCCGGGCGGAGGCCGCCGTCTCAGGCTGGGCGCGTGCCCGAGTGTGTGCACCCGGGGAGTGAGCGCGCGCCGTCCGCTGTCGCCGTCGGGCCTCCCGGGGACTGGGCACAAAGGCGCGCGGGGCCTCTCCCGGGACCCGGTCCTCGGTTAGCGCCGGCGCCCGAACCATCCCGGTTCGCCCCGGGCCGCCCGCTCCCCGTGGTGCCGCGCGCCGCTTCCGAGCATCCCGGGAACAGGCGCATCTGTGCACACACGCGGATTTTTTAAAAATAACATATTTCTAGACATGCCTCCTCTCCCCCCACCCCCATCTTTGCAAAGCAGCCCGGAGGGCGGGGTGGAGGGGCGGGGCCTCCGAGTTAATAAAGGAAGATGGGCGGAGCCGGCCCCCAGCCATTGGCTAGCTGGGGGAGTGATGTCACCCATATGACACCCTGATAACTAGTTGAGAGAGAGACCTCAACTTTTTGCAGAAGGAGCGCGCGCGCCTGGGAGAGCTCGGGGTCCGGCGCTTGCGGTAGGAGCCACGAGCCGGAGAGAGGGGTCCCGGGCTGCCTCGACCGCCGTCGCCACCGCCTCTCCTGTCGCGACCGCAGCTCCCACCGCGCCGGCGGCCGTCGTCGCCGAAGCCACCACAGCCGCTGTGTGCAGCCTGGAAGGGGGGGCGGGGGGGAGGGGGGGAGCCGCGAAAGCGGGGTGCCGAGGACTTTGCAACTTGCCCAGGAAGGTGGAGGGGTGGGAGGGGGAGGGGGACCTCCGCACGAGACCCAGCGGCCCGGGTTGGAGCGTCCAGCCCTGCAGCGGATCATGGTGCAGCAGGCGGAGAGCTTGGAAGCGGAGAGCAACCTGCCCCGGGAGGCGCTGGACACGGAGGAGGGCGAATTCATGGCTTGCAGCCCGGTGGCCCTGGACGAGAGCGACCCAGACTGGTGCAAGACGGCGTCGGGCCACATCCAGCGGCCGATGAACGCGTTCATGGTATGGTCCAAGATCGAACGCAGGAAGATCATGGAGCAGTCTCCGGACATGCACAACGCCGAGATCTCCAAGAGGCTGGGCAAGCGCTGGAAAATGCTGAAGGACAGCGAGAAGATCCCGTTCATCCGGGAGGCGGAGCGGCTGCGGCTCAAGCACATGGCCGACTACCCCGACTACAAGTACCGGCCCCGGAAAAAGCCCAAAATGGACCCCTCGGCCAAGCCCAGCGCCAGCCAGAGCCCAGAGAAGAGCGCGGCCGGCGGCGGCGGCGGGAGCGCGGGCGGAGGCGCGGGCGGTGCCAAGACCTCCAAGGGCTCCAGCAAGAAATGCGGCAAGCTCAAGGCCCCCGCGGCCGCGGGCGCCAAGGCGGGCGCGGGCAAGGCGGCCCAGTCCGGGGACTACGGGGGCGCGGGCGACGACTACGTGCTGGGCAGCCTGCGCGTGAGCGGCTCGGGCGGCGGCGGCGCGGGCAAGACGGTCAAGTGCGTGTTTCTGGATGAGGACGACGACGACGACGACGACGACGACGAGCTGCAGCTGCAGATCAAACAGGAGCCGGACGAGGAGGACGAGGAACCACCGCACCAGCAGCTCCTGCAGCCGCCGGGGCAGCAGCCGTCGCAGCTGCTGAGACGCTACAACGTCGCCAAAGTGCCCGCCAGCCCTACGCTGAGCAGCTCGGCGGAGTCCCCCGAGGGAGCGAGCCTCTACGACGAGGTGCGGGCCGGCGCGACCTCGGGCGCCGGGGGCGGCAGCCGCCTCTACTACAGCTTCAAGAACATCACCAAGCAGCACCCGCCGCCGCTCGCGCAGCCCGCGCTGTCGCCCGCGTCCTCGCGCTCGGTGTCCACCTCCTCGTCCAGCAGCAGCGGCAGCAGCAGCGGCAGCAGCGGCGAGGACGCCGACGACCTGATGTTCGACCTGAGCTTGAATTTCTCTCAAAGCGCGCACAGCGCCAGCGAGCAGCAGCTGGGGGGCGGCGCGGCGGCCGGGAACCTGTCCCTGTCGCTGGTGGATAAGGATTTGGATTCGTTCAGCGAGGGCAGCCTGGGCTCCCACTTCGAGTTCCCCGACTACTGCACGCCGGAGCTGAGCGAGATGATCGCGGGGGACTGGCTGGAGGCGAACTTCTCCGACCTGGTGTTCACATATTGAAAGGCGCCCGCTGCTCGCTCTTTCTCTCGGAGGGTGCAGAGCTGGGTTCCTTGGGAGGAAGTTGTAGTGGTGATGATGATGATGATAATGATGATGATGATGGTGGTGTTGATGGTGGCGGTGGTAGGGTGGAGGGGAGAGAAGAAGATGCTGATGATATTGATAAGATGTCGTGACGCAAAGAAATTGGAAAACATGATGAAAATTTTGGTGGAGTTAAAGTGAAATGAGTAGTTTTTAAACATTTTTCCTGTCCTTTTTTTGTCCCCCCTCCCTTCCTTTATCGTGTCTCAAGGTAGTTGCATACCTAGTCTGGAGTTGTGATTATTTTCCCAAAAAATGTGTTTTTGTAATTACTATTTCTTTTTCCTGAAATTCGTGATTGCAACAAAGGCAGAGGGGGCGGGGCGGGGGAGGGGAGGTAGGACCCGCTCCGGAAGGCGCTGTTTGAAGCTTGTCGGTCTTTGAAGTCTGGAAGACGTCTGCAGAGGACCCTTTTGGCAGCACAACTGTTACTCTAGGGAGTTGGTGGAGATATTTTTTTTTCTTAAGAGAACTTAAAGAACTGGTGATTTTTTTTTAACAAAAAAAGGGACCATTGCAACTTTTGTTAATTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGAGGGAGAAAACTGATGTCTTCTATGCATCCGATTCTTAACAAAACTGCAGGGAGCTTGAAAAAATGCAGACTGTACAAACGCTTACAAAAAAAAAAACTGTGAACTGACTTAAGATCAGAGTTTACTTTTCAGATCAAATTGTTTATGGTTTTACAAATGTGATTTCTACTTGCCAACTTTTTTTTTGTAACTTGTTCCCTTATACCTCCTTGATT
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Task1_train_3109
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A genetic alteration is present in SOX11 (SRY-box transcription factor 11) on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
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CTGAAAGGAAGCAGATTCGGATAATTTTCCCAGTCCTACACGGCTGATTTCTCTGGTGAAGGGATCCGGGCAGTGTCTTAGGAACTGCTCAAAGTTCCCAGATACCCAGTGCTGGGGGGTGTGGAGAAGGCGAGGGTGGCGACAGACCATACCTATGAAGCGGTGATTTTCTTTAATTGCCCCCAGAATATCCGTAGAGGTAGTAGGGACTCAATAAAGAAACACAAAGGAGACGAACACGGCACGATCGCCGGGGTCCGCGGCTGCTCTGCGAGGCCCAGCGCGCCCCAGGTCGCGGCTCCCCGGCCGCCAGCGCACCTTTCCATCTCCAGGGAAAATATTTAGACGGGAAACTCGAGTGCACCTTATTTTCTCTTTGGTTTATGAGTGACCCAGAAGGCTTCTAGCTCACAATCGCACGATTTCAGGACGAGGCTGCCGGAGAAGCGCTGGCGACCGAGGATGGGGGAAGGACAAAGAGGAAGAGGAGGCCTGGGAAGGAGAAAGGAGCGGCGGAGGGGCGGGGAGAGGACGGGGCGGGGAGAGGAGGGGCGGGGAGCAGAGGGAGAAGGGAAGGAGGGCGCCGGGCCCCTCGCAGGGACGCCGGGCGGGGCGCGGGCTTGCTGGAGCCTGCGGGACCCAGAGCCCGCTCCGGAGCCAGCCCTGGGAGTGGCCAGCTTGAACCCGAGGGCCCCGCAGACCGTTACTCCGGCCCCCGCCCGGGGCGGGGCGCGCGGGGGCGCGGCGCAGCCCAACCCGCACAGCCGCGTCCCCAAACACCACCGAGGAGGGAAAACAGACGGAGAAAAAGGACAAAACAGAAAAATGCAAAACGGGGGAGGGAGCTCACCGCCTCTCGAGCTTTAAATTGATTTCTTTGCCTTACAAAAAGGGAGAAAGGGAAAAGGAGAGCAGAGCCCACGTGCCGGGAAGGTTGCTGTCTTCAAGCGCCACCTTCCGTCGGCCAGGGCCGCCGCGGGGCTACCGGGCGGGCTCGGGGCGGCGACCCGGGGGAGCGGCCGAGCCCCGCGAGGGGCTCGCCGGGGAGCAGCTGCGCCCACCCCGGGGCAGGCCGGGCGCGGCTGACCGCGAGCCGGGCGGAGGCCGCCGTCTCAGGCTGGGCGCGTGCCCGAGTGTGTGCACCCGGGGAGTGAGCGCGCGCCGTCCGCTGTCGCCGTCGGGCCTCCCGGGGACTGGGCACAAAGGCGCGCGGGGCCTCTCCCGGGACCCGGTCCTCGGTTAGCGCCGGCGCCCGAACCATCCCGGTTCGCCCCGGGCCGCCCGCTCCCCGTGGTGCCGCGCGCCGCTTCCGAGCATCCCGGGAACAGGCGCATCTGTGCACACACGCGGATTTTTTAAAAATAACATATTTCTAGACATGCCTCCTCTCCCCCCACCCCCATCTTTGCAAAGCAGCCCGGAGGGCGGGGTGGAGGGGCGGGGCCTCCGAGTTAATAAAGGAAGATGGGCGGAGCCGGCCCCCAGCCATTGGCTAGCTGGGGGAGTGATGTCACCCATATGACACCCTGATAACTAGTTGAGAGAGAGACCTCAACTTTTTGCAGAAGGAGCGCGCGCGCCTGGGAGAGCTCGGGGTCCGGCGCTTGCGGTAGGAGCCACGAGCCGGAGAGAGGGGTCCCGGGCTGCCTCGACCGCCGTCGCCACCGCCTCTCCTGTCGCGACCGCAGCTCCCACCGCGCCGGCGGCCGTCGTCGCCGAAGCCACCACAGCCGCTGTGTGCAGCCTGGAAGGGGGGGCGGGGGGGAGGGGGGGAGCCGCGAAAGCGGGGTGCCGAGGACTTTGCAACTTGCCCAGGAAGGTGGAGGGGTGGGAGGGGGAGGGGGACCTCCGCACGAGACCCAGCGGCCCGGGTTGGAGCGTCCAGCCCTGCAGCGGATCATGGTGCAGCAGGCGGAGAGCTTGGAAGCGGAGAGCAACCTGCCCCGGGAGGCGCTGGACACGGAGGAGGGCGAATTCATGGCTTGCAGCCCGGTGGCCCTGGACGAGAGCGACCCAGACTGGTGCAAGACGGCGTCGGGCCACATCAAGCGGCCGATGAACGCGTTCATGGTATGGTCCAAGATCGAACGCAGGAAGATCATGGAGCAGTCTCCGGACATGCACAACGCCGAGATCTCCAAGAGGCTGGGCAAGCGCTGGAAAATGCTGAAGGACAGCGAGAAGATCCCGTTCATCCGGGAGGCGGAGCGGCTGCGGCTCAAGCACATGGCCGACTACCCCGACTACAAGTACCGGCCCCGGAAAAAGCCCAAAATGGACCCCTCGGCCAAGCCCAGCGCCAGCCAGAGCCCAGAGAAGAGCGCGGCCGGCGGCGGCGGCGGGAGCGCGGGCGGAGGCGCGGGCGGTGCCAAGACCTCCAAGGGCTCCAGCAAGAAATGCGGCAAGCTCAAGGCCCCCGCGGCCGCGGGCGCCAAGGCGGGCGCGGGCAAGGCGGCCCAGTCCGGGGACTACGGGGGCGCGGGCGACGACTACGTGCTGGGCAGCCTGCGCGTGAGCGGCTCGGGCGGCGGCGGCGCGGGCAAGACGGTCAAGTGCGTGTTTCTGGATGAGGACGACGACGACGACGACGACGACGACGAGCTGCAGCTGCAGATCAAACAGGAGCCGGACGAGGAGGACGAGGAACCACCGCACCAGCAGCTCCTGCAGCCGCCGGGGCAGCAGCCGTCGCAGCTGCTGAGACGCTACAACGTCGCCAAAGTGCCCGCCAGCCCTACGCTGAGCAGCTCGGCGGAGTCCCCCGAGGGAGCGAGCCTCTACGACGAGGTGCGGGCCGGCGCGACCTCGGGCGCCGGGGGCGGCAGCCGCCTCTACTACAGCTTCAAGAACATCACCAAGCAGCACCCGCCGCCGCTCGCGCAGCCCGCGCTGTCGCCCGCGTCCTCGCGCTCGGTGTCCACCTCCTCGTCCAGCAGCAGCGGCAGCAGCAGCGGCAGCAGCGGCGAGGACGCCGACGACCTGATGTTCGACCTGAGCTTGAATTTCTCTCAAAGCGCGCACAGCGCCAGCGAGCAGCAGCTGGGGGGCGGCGCGGCGGCCGGGAACCTGTCCCTGTCGCTGGTGGATAAGGATTTGGATTCGTTCAGCGAGGGCAGCCTGGGCTCCCACTTCGAGTTCCCCGACTACTGCACGCCGGAGCTGAGCGAGATGATCGCGGGGGACTGGCTGGAGGCGAACTTCTCCGACCTGGTGTTCACATATTGAAAGGCGCCCGCTGCTCGCTCTTTCTCTCGGAGGGTGCAGAGCTGGGTTCCTTGGGAGGAAGTTGTAGTGGTGATGATGATGATGATAATGATGATGATGATGGTGGTGTTGATGGTGGCGGTGGTAGGGTGGAGGGGAGAGAAGAAGATGCTGATGATATTGATAAGATGTCGTGACGCAAAGAAATTGGAAAACATGATGAAAATTTTGGTGGAGTTAAAGTGAAATGAGTAGTTTTTAAACATTTTTCCTGTCCTTTTTTTGTCCCCCCTCCCTTCCTTTATCGTGTCTCAAGGTAGTTGCATACCTAGTCTGGAGTTGTGATTATTTTCCCAAAAAATGTGTTTTTGTAATTACTATTTCTTTTTCCTGAAATTCGTGATTGCAACAAAGGCAGAGGGGGCGGGGCGGGGGAGGGGAGGTAGGACCCGCTCCGGAAGGCGCTGTTTGAAGCTTGTCGGTCTTTGAAGTCTGGAAGACGTCTGCAGAGGACCCTTTTGGCAGCACAACTGTTACTCTAGGGAGTTGGTGGAGATATTTTTTTTTCTTAAGAGAACTTAAAGAACTGGTGATTTTTTTTTAACAAAAAAAGGGACCATTGCAACTTTTGTTAATTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGAGGGAGAAAACTGATGTCTTCTATGCATCCGATTCTTAACAAAACTGCAGGGAGCTTGAAAAAATGCAGACTGTACAAACGCTTACAAAAAAAAAAACTGTGAACTGACTTAAGATCAGAGTTTACTTTTCAGATCAAATTGTTTATGGTTTTACAAATGTGATTTCTACTTGCCAACTTTTTTTTTGTAACTTGTTCCCTTATACCTCCTTGATTGA
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CTGAAAGGAAGCAGATTCGGATAATTTTCCCAGTCCTACACGGCTGATTTCTCTGGTGAAGGGATCCGGGCAGTGTCTTAGGAACTGCTCAAAGTTCCCAGATACCCAGTGCTGGGGGGTGTGGAGAAGGCGAGGGTGGCGACAGACCATACCTATGAAGCGGTGATTTTCTTTAATTGCCCCCAGAATATCCGTAGAGGTAGTAGGGACTCAATAAAGAAACACAAAGGAGACGAACACGGCACGATCGCCGGGGTCCGCGGCTGCTCTGCGAGGCCCAGCGCGCCCCAGGTCGCGGCTCCCCGGCCGCCAGCGCACCTTTCCATCTCCAGGGAAAATATTTAGACGGGAAACTCGAGTGCACCTTATTTTCTCTTTGGTTTATGAGTGACCCAGAAGGCTTCTAGCTCACAATCGCACGATTTCAGGACGAGGCTGCCGGAGAAGCGCTGGCGACCGAGGATGGGGGAAGGACAAAGAGGAAGAGGAGGCCTGGGAAGGAGAAAGGAGCGGCGGAGGGGCGGGGAGAGGACGGGGCGGGGAGAGGAGGGGCGGGGAGCAGAGGGAGAAGGGAAGGAGGGCGCCGGGCCCCTCGCAGGGACGCCGGGCGGGGCGCGGGCTTGCTGGAGCCTGCGGGACCCAGAGCCCGCTCCGGAGCCAGCCCTGGGAGTGGCCAGCTTGAACCCGAGGGCCCCGCAGACCGTTACTCCGGCCCCCGCCCGGGGCGGGGCGCGCGGGGGCGCGGCGCAGCCCAACCCGCACAGCCGCGTCCCCAAACACCACCGAGGAGGGAAAACAGACGGAGAAAAAGGACAAAACAGAAAAATGCAAAACGGGGGAGGGAGCTCACCGCCTCTCGAGCTTTAAATTGATTTCTTTGCCTTACAAAAAGGGAGAAAGGGAAAAGGAGAGCAGAGCCCACGTGCCGGGAAGGTTGCTGTCTTCAAGCGCCACCTTCCGTCGGCCAGGGCCGCCGCGGGGCTACCGGGCGGGCTCGGGGCGGCGACCCGGGGGAGCGGCCGAGCCCCGCGAGGGGCTCGCCGGGGAGCAGCTGCGCCCACCCCGGGGCAGGCCGGGCGCGGCTGACCGCGAGCCGGGCGGAGGCCGCCGTCTCAGGCTGGGCGCGTGCCCGAGTGTGTGCACCCGGGGAGTGAGCGCGCGCCGTCCGCTGTCGCCGTCGGGCCTCCCGGGGACTGGGCACAAAGGCGCGCGGGGCCTCTCCCGGGACCCGGTCCTCGGTTAGCGCCGGCGCCCGAACCATCCCGGTTCGCCCCGGGCCGCCCGCTCCCCGTGGTGCCGCGCGCCGCTTCCGAGCATCCCGGGAACAGGCGCATCTGTGCACACACGCGGATTTTTTAAAAATAACATATTTCTAGACATGCCTCCTCTCCCCCCACCCCCATCTTTGCAAAGCAGCCCGGAGGGCGGGGTGGAGGGGCGGGGCCTCCGAGTTAATAAAGGAAGATGGGCGGAGCCGGCCCCCAGCCATTGGCTAGCTGGGGGAGTGATGTCACCCATATGACACCCTGATAACTAGTTGAGAGAGAGACCTCAACTTTTTGCAGAAGGAGCGCGCGCGCCTGGGAGAGCTCGGGGTCCGGCGCTTGCGGTAGGAGCCACGAGCCGGAGAGAGGGGTCCCGGGCTGCCTCGACCGCCGTCGCCACCGCCTCTCCTGTCGCGACCGCAGCTCCCACCGCGCCGGCGGCCGTCGTCGCCGAAGCCACCACAGCCGCTGTGTGCAGCCTGGAAGGGGGGGCGGGGGGGAGGGGGGGAGCCGCGAAAGCGGGGTGCCGAGGACTTTGCAACTTGCCCAGGAAGGTGGAGGGGTGGGAGGGGGAGGGGGACCTCCGCACGAGACCCAGCGGCCCGGGTTGGAGCGTCCAGCCCTGCAGCGGATCATGGTGCAGCAGGCGGAGAGCTTGGAAGCGGAGAGCAACCTGCCCCGGGAGGCGCTGGACACGGAGGAGGGCGAATTCATGGCTTGCAGCCCGGTGGCCCTGGACGAGAGCGACCCAGACTGGTGCAAGACGGCGTCGGGCCACATCAACCGGCCGATGAACGCGTTCATGGTATGGTCCAAGATCGAACGCAGGAAGATCATGGAGCAGTCTCCGGACATGCACAACGCCGAGATCTCCAAGAGGCTGGGCAAGCGCTGGAAAATGCTGAAGGACAGCGAGAAGATCCCGTTCATCCGGGAGGCGGAGCGGCTGCGGCTCAAGCACATGGCCGACTACCCCGACTACAAGTACCGGCCCCGGAAAAAGCCCAAAATGGACCCCTCGGCCAAGCCCAGCGCCAGCCAGAGCCCAGAGAAGAGCGCGGCCGGCGGCGGCGGCGGGAGCGCGGGCGGAGGCGCGGGCGGTGCCAAGACCTCCAAGGGCTCCAGCAAGAAATGCGGCAAGCTCAAGGCCCCCGCGGCCGCGGGCGCCAAGGCGGGCGCGGGCAAGGCGGCCCAGTCCGGGGACTACGGGGGCGCGGGCGACGACTACGTGCTGGGCAGCCTGCGCGTGAGCGGCTCGGGCGGCGGCGGCGCGGGCAAGACGGTCAAGTGCGTGTTTCTGGATGAGGACGACGACGACGACGACGACGACGACGAGCTGCAGCTGCAGATCAAACAGGAGCCGGACGAGGAGGACGAGGAACCACCGCACCAGCAGCTCCTGCAGCCGCCGGGGCAGCAGCCGTCGCAGCTGCTGAGACGCTACAACGTCGCCAAAGTGCCCGCCAGCCCTACGCTGAGCAGCTCGGCGGAGTCCCCCGAGGGAGCGAGCCTCTACGACGAGGTGCGGGCCGGCGCGACCTCGGGCGCCGGGGGCGGCAGCCGCCTCTACTACAGCTTCAAGAACATCACCAAGCAGCACCCGCCGCCGCTCGCGCAGCCCGCGCTGTCGCCCGCGTCCTCGCGCTCGGTGTCCACCTCCTCGTCCAGCAGCAGCGGCAGCAGCAGCGGCAGCAGCGGCGAGGACGCCGACGACCTGATGTTCGACCTGAGCTTGAATTTCTCTCAAAGCGCGCACAGCGCCAGCGAGCAGCAGCTGGGGGGCGGCGCGGCGGCCGGGAACCTGTCCCTGTCGCTGGTGGATAAGGATTTGGATTCGTTCAGCGAGGGCAGCCTGGGCTCCCACTTCGAGTTCCCCGACTACTGCACGCCGGAGCTGAGCGAGATGATCGCGGGGGACTGGCTGGAGGCGAACTTCTCCGACCTGGTGTTCACATATTGAAAGGCGCCCGCTGCTCGCTCTTTCTCTCGGAGGGTGCAGAGCTGGGTTCCTTGGGAGGAAGTTGTAGTGGTGATGATGATGATGATAATGATGATGATGATGGTGGTGTTGATGGTGGCGGTGGTAGGGTGGAGGGGAGAGAAGAAGATGCTGATGATATTGATAAGATGTCGTGACGCAAAGAAATTGGAAAACATGATGAAAATTTTGGTGGAGTTAAAGTGAAATGAGTAGTTTTTAAACATTTTTCCTGTCCTTTTTTTGTCCCCCCTCCCTTCCTTTATCGTGTCTCAAGGTAGTTGCATACCTAGTCTGGAGTTGTGATTATTTTCCCAAAAAATGTGTTTTTGTAATTACTATTTCTTTTTCCTGAAATTCGTGATTGCAACAAAGGCAGAGGGGGCGGGGCGGGGGAGGGGAGGTAGGACCCGCTCCGGAAGGCGCTGTTTGAAGCTTGTCGGTCTTTGAAGTCTGGAAGACGTCTGCAGAGGACCCTTTTGGCAGCACAACTGTTACTCTAGGGAGTTGGTGGAGATATTTTTTTTTCTTAAGAGAACTTAAAGAACTGGTGATTTTTTTTTAACAAAAAAAGGGACCATTGCAACTTTTGTTAATTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGAGGGAGAAAACTGATGTCTTCTATGCATCCGATTCTTAACAAAACTGCAGGGAGCTTGAAAAAATGCAGACTGTACAAACGCTTACAAAAAAAAAAACTGTGAACTGACTTAAGATCAGAGTTTACTTTTCAGATCAAATTGTTTATGGTTTTACAAATGTGATTTCTACTTGCCAACTTTTTTTTTGTAACTTGTTCCCTTATACCTCCTTGATTGA
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Task1_train_3110
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A variant was discovered in gene SOX11 (SRY-box transcription factor 11), Chromosome 2. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
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CCCAGTCCTACACGGCTGATTTCTCTGGTGAAGGGATCCGGGCAGTGTCTTAGGAACTGCTCAAAGTTCCCAGATACCCAGTGCTGGGGGGTGTGGAGAAGGCGAGGGTGGCGACAGACCATACCTATGAAGCGGTGATTTTCTTTAATTGCCCCCAGAATATCCGTAGAGGTAGTAGGGACTCAATAAAGAAACACAAAGGAGACGAACACGGCACGATCGCCGGGGTCCGCGGCTGCTCTGCGAGGCCCAGCGCGCCCCAGGTCGCGGCTCCCCGGCCGCCAGCGCACCTTTCCATCTCCAGGGAAAATATTTAGACGGGAAACTCGAGTGCACCTTATTTTCTCTTTGGTTTATGAGTGACCCAGAAGGCTTCTAGCTCACAATCGCACGATTTCAGGACGAGGCTGCCGGAGAAGCGCTGGCGACCGAGGATGGGGGAAGGACAAAGAGGAAGAGGAGGCCTGGGAAGGAGAAAGGAGCGGCGGAGGGGCGGGGAGAGGACGGGGCGGGGAGAGGAGGGGCGGGGAGCAGAGGGAGAAGGGAAGGAGGGCGCCGGGCCCCTCGCAGGGACGCCGGGCGGGGCGCGGGCTTGCTGGAGCCTGCGGGACCCAGAGCCCGCTCCGGAGCCAGCCCTGGGAGTGGCCAGCTTGAACCCGAGGGCCCCGCAGACCGTTACTCCGGCCCCCGCCCGGGGCGGGGCGCGCGGGGGCGCGGCGCAGCCCAACCCGCACAGCCGCGTCCCCAAACACCACCGAGGAGGGAAAACAGACGGAGAAAAAGGACAAAACAGAAAAATGCAAAACGGGGGAGGGAGCTCACCGCCTCTCGAGCTTTAAATTGATTTCTTTGCCTTACAAAAAGGGAGAAAGGGAAAAGGAGAGCAGAGCCCACGTGCCGGGAAGGTTGCTGTCTTCAAGCGCCACCTTCCGTCGGCCAGGGCCGCCGCGGGGCTACCGGGCGGGCTCGGGGCGGCGACCCGGGGGAGCGGCCGAGCCCCGCGAGGGGCTCGCCGGGGAGCAGCTGCGCCCACCCCGGGGCAGGCCGGGCGCGGCTGACCGCGAGCCGGGCGGAGGCCGCCGTCTCAGGCTGGGCGCGTGCCCGAGTGTGTGCACCCGGGGAGTGAGCGCGCGCCGTCCGCTGTCGCCGTCGGGCCTCCCGGGGACTGGGCACAAAGGCGCGCGGGGCCTCTCCCGGGACCCGGTCCTCGGTTAGCGCCGGCGCCCGAACCATCCCGGTTCGCCCCGGGCCGCCCGCTCCCCGTGGTGCCGCGCGCCGCTTCCGAGCATCCCGGGAACAGGCGCATCTGTGCACACACGCGGATTTTTTAAAAATAACATATTTCTAGACATGCCTCCTCTCCCCCCACCCCCATCTTTGCAAAGCAGCCCGGAGGGCGGGGTGGAGGGGCGGGGCCTCCGAGTTAATAAAGGAAGATGGGCGGAGCCGGCCCCCAGCCATTGGCTAGCTGGGGGAGTGATGTCACCCATATGACACCCTGATAACTAGTTGAGAGAGAGACCTCAACTTTTTGCAGAAGGAGCGCGCGCGCCTGGGAGAGCTCGGGGTCCGGCGCTTGCGGTAGGAGCCACGAGCCGGAGAGAGGGGTCCCGGGCTGCCTCGACCGCCGTCGCCACCGCCTCTCCTGTCGCGACCGCAGCTCCCACCGCGCCGGCGGCCGTCGTCGCCGAAGCCACCACAGCCGCTGTGTGCAGCCTGGAAGGGGGGGCGGGGGGGAGGGGGGGAGCCGCGAAAGCGGGGTGCCGAGGACTTTGCAACTTGCCCAGGAAGGTGGAGGGGTGGGAGGGGGAGGGGGACCTCCGCACGAGACCCAGCGGCCCGGGTTGGAGCGTCCAGCCCTGCAGCGGATCATGGTGCAGCAGGCGGAGAGCTTGGAAGCGGAGAGCAACCTGCCCCGGGAGGCGCTGGACACGGAGGAGGGCGAATTCATGGCTTGCAGCCCGGTGGCCCTGGACGAGAGCGACCCAGACTGGTGCAAGACGGCGTCGGGCCACATCAAGCGGCCGATGAACGCGTTCATGGTATGGTCCAAGATCGAACGCAGGAAGATCATGGAGCAGTCTCCGGACATGCACAACGCCGAGATCTCCAAGAGGCTGGGCAAGCGCTGGAAAATGCTGAAGGACAGCGAGAAGATCCCGTTCATCCGGGAGGCGGAGCGGCTGCGGCTCAAGCACATGGCCGACTACCCCGACTACAAGTACCGGCCCCGGAAAAAGCCCAAAATGGACCCCTCGGCCAAGCCCAGCGCCAGCCAGAGCCCAGAGAAGAGCGCGGCCGGCGGCGGCGGCGGGAGCGCGGGCGGAGGCGCGGGCGGTGCCAAGACCTCCAAGGGCTCCAGCAAGAAATGCGGCAAGCTCAAGGCCCCCGCGGCCGCGGGCGCCAAGGCGGGCGCGGGCAAGGCGGCCCAGTCCGGGGACTACGGGGGCGCGGGCGACGACTACGTGCTGGGCAGCCTGCGCGTGAGCGGCTCGGGCGGCGGCGGCGCGGGCAAGACGGTCAAGTGCGTGTTTCTGGATGAGGACGACGACGACGACGACGACGACGACGAGCTGCAGCTGCAGATCAAACAGGAGCCGGACGAGGAGGACGAGGAACCACCGCACCAGCAGCTCCTGCAGCCGCCGGGGCAGCAGCCGTCGCAGCTGCTGAGACGCTACAACGTCGCCAAAGTGCCCGCCAGCCCTACGCTGAGCAGCTCGGCGGAGTCCCCCGAGGGAGCGAGCCTCTACGACGAGGTGCGGGCCGGCGCGACCTCGGGCGCCGGGGGCGGCAGCCGCCTCTACTACAGCTTCAAGAACATCACCAAGCAGCACCCGCCGCCGCTCGCGCAGCCCGCGCTGTCGCCCGCGTCCTCGCGCTCGGTGTCCACCTCCTCGTCCAGCAGCAGCGGCAGCAGCAGCGGCAGCAGCGGCGAGGACGCCGACGACCTGATGTTCGACCTGAGCTTGAATTTCTCTCAAAGCGCGCACAGCGCCAGCGAGCAGCAGCTGGGGGGCGGCGCGGCGGCCGGGAACCTGTCCCTGTCGCTGGTGGATAAGGATTTGGATTCGTTCAGCGAGGGCAGCCTGGGCTCCCACTTCGAGTTCCCCGACTACTGCACGCCGGAGCTGAGCGAGATGATCGCGGGGGACTGGCTGGAGGCGAACTTCTCCGACCTGGTGTTCACATATTGAAAGGCGCCCGCTGCTCGCTCTTTCTCTCGGAGGGTGCAGAGCTGGGTTCCTTGGGAGGAAGTTGTAGTGGTGATGATGATGATGATAATGATGATGATGATGGTGGTGTTGATGGTGGCGGTGGTAGGGTGGAGGGGAGAGAAGAAGATGCTGATGATATTGATAAGATGTCGTGACGCAAAGAAATTGGAAAACATGATGAAAATTTTGGTGGAGTTAAAGTGAAATGAGTAGTTTTTAAACATTTTTCCTGTCCTTTTTTTGTCCCCCCTCCCTTCCTTTATCGTGTCTCAAGGTAGTTGCATACCTAGTCTGGAGTTGTGATTATTTTCCCAAAAAATGTGTTTTTGTAATTACTATTTCTTTTTCCTGAAATTCGTGATTGCAACAAAGGCAGAGGGGGCGGGGCGGGGGAGGGGAGGTAGGACCCGCTCCGGAAGGCGCTGTTTGAAGCTTGTCGGTCTTTGAAGTCTGGAAGACGTCTGCAGAGGACCCTTTTGGCAGCACAACTGTTACTCTAGGGAGTTGGTGGAGATATTTTTTTTTCTTAAGAGAACTTAAAGAACTGGTGATTTTTTTTTAACAAAAAAAGGGACCATTGCAACTTTTGTTAATTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGAGGGAGAAAACTGATGTCTTCTATGCATCCGATTCTTAACAAAACTGCAGGGAGCTTGAAAAAATGCAGACTGTACAAACGCTTACAAAAAAAAAAACTGTGAACTGACTTAAGATCAGAGTTTACTTTTCAGATCAAATTGTTTATGGTTTTACAAATGTGATTTCTACTTGCCAACTTTTTTTTTGTAACTTGTTCCCTTATACCTCCTTGATTGAATACCAGACAGCCTAGACCTCAGTACAA
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CCCAGTCCTACACGGCTGATTTCTCTGGTGAAGGGATCCGGGCAGTGTCTTAGGAACTGCTCAAAGTTCCCAGATACCCAGTGCTGGGGGGTGTGGAGAAGGCGAGGGTGGCGACAGACCATACCTATGAAGCGGTGATTTTCTTTAATTGCCCCCAGAATATCCGTAGAGGTAGTAGGGACTCAATAAAGAAACACAAAGGAGACGAACACGGCACGATCGCCGGGGTCCGCGGCTGCTCTGCGAGGCCCAGCGCGCCCCAGGTCGCGGCTCCCCGGCCGCCAGCGCACCTTTCCATCTCCAGGGAAAATATTTAGACGGGAAACTCGAGTGCACCTTATTTTCTCTTTGGTTTATGAGTGACCCAGAAGGCTTCTAGCTCACAATCGCACGATTTCAGGACGAGGCTGCCGGAGAAGCGCTGGCGACCGAGGATGGGGGAAGGACAAAGAGGAAGAGGAGGCCTGGGAAGGAGAAAGGAGCGGCGGAGGGGCGGGGAGAGGACGGGGCGGGGAGAGGAGGGGCGGGGAGCAGAGGGAGAAGGGAAGGAGGGCGCCGGGCCCCTCGCAGGGACGCCGGGCGGGGCGCGGGCTTGCTGGAGCCTGCGGGACCCAGAGCCCGCTCCGGAGCCAGCCCTGGGAGTGGCCAGCTTGAACCCGAGGGCCCCGCAGACCGTTACTCCGGCCCCCGCCCGGGGCGGGGCGCGCGGGGGCGCGGCGCAGCCCAACCCGCACAGCCGCGTCCCCAAACACCACCGAGGAGGGAAAACAGACGGAGAAAAAGGACAAAACAGAAAAATGCAAAACGGGGGAGGGAGCTCACCGCCTCTCGAGCTTTAAATTGATTTCTTTGCCTTACAAAAAGGGAGAAAGGGAAAAGGAGAGCAGAGCCCACGTGCCGGGAAGGTTGCTGTCTTCAAGCGCCACCTTCCGTCGGCCAGGGCCGCCGCGGGGCTACCGGGCGGGCTCGGGGCGGCGACCCGGGGGAGCGGCCGAGCCCCGCGAGGGGCTCGCCGGGGAGCAGCTGCGCCCACCCCGGGGCAGGCCGGGCGCGGCTGACCGCGAGCCGGGCGGAGGCCGCCGTCTCAGGCTGGGCGCGTGCCCGAGTGTGTGCACCCGGGGAGTGAGCGCGCGCCGTCCGCTGTCGCCGTCGGGCCTCCCGGGGACTGGGCACAAAGGCGCGCGGGGCCTCTCCCGGGACCCGGTCCTCGGTTAGCGCCGGCGCCCGAACCATCCCGGTTCGCCCCGGGCCGCCCGCTCCCCGTGGTGCCGCGCGCCGCTTCCGAGCATCCCGGGAACAGGCGCATCTGTGCACACACGCGGATTTTTTAAAAATAACATATTTCTAGACATGCCTCCTCTCCCCCCACCCCCATCTTTGCAAAGCAGCCCGGAGGGCGGGGTGGAGGGGCGGGGCCTCCGAGTTAATAAAGGAAGATGGGCGGAGCCGGCCCCCAGCCATTGGCTAGCTGGGGGAGTGATGTCACCCATATGACACCCTGATAACTAGTTGAGAGAGAGACCTCAACTTTTTGCAGAAGGAGCGCGCGCGCCTGGGAGAGCTCGGGGTCCGGCGCTTGCGGTAGGAGCCACGAGCCGGAGAGAGGGGTCCCGGGCTGCCTCGACCGCCGTCGCCACCGCCTCTCCTGTCGCGACCGCAGCTCCCACCGCGCCGGCGGCCGTCGTCGCCGAAGCCACCACAGCCGCTGTGTGCAGCCTGGAAGGGGGGGCGGGGGGGAGGGGGGGAGCCGCGAAAGCGGGGTGCCGAGGACTTTGCAACTTGCCCAGGAAGGTGGAGGGGTGGGAGGGGGAGGGGGACCTCCGCACGAGACCCAGCGGCCCGGGTTGGAGCGTCCAGCCCTGCAGCGGATCATGGTGCAGCAGGCGGAGAGCTTGGAAGCGGAGAGCAACCTGCCCCGGGAGGCGCTGGACACGGAGGAGGGCGAATTCATGGCTTGCAGCCCGGTGGCCCTGGACGAGAGCGACCCAGACTGGTGCAAGACGGCGTCGGGCCACATCAAGCGGCCGATGAACGCGTTCATGGTATGGCCCAAGATCGAACGCAGGAAGATCATGGAGCAGTCTCCGGACATGCACAACGCCGAGATCTCCAAGAGGCTGGGCAAGCGCTGGAAAATGCTGAAGGACAGCGAGAAGATCCCGTTCATCCGGGAGGCGGAGCGGCTGCGGCTCAAGCACATGGCCGACTACCCCGACTACAAGTACCGGCCCCGGAAAAAGCCCAAAATGGACCCCTCGGCCAAGCCCAGCGCCAGCCAGAGCCCAGAGAAGAGCGCGGCCGGCGGCGGCGGCGGGAGCGCGGGCGGAGGCGCGGGCGGTGCCAAGACCTCCAAGGGCTCCAGCAAGAAATGCGGCAAGCTCAAGGCCCCCGCGGCCGCGGGCGCCAAGGCGGGCGCGGGCAAGGCGGCCCAGTCCGGGGACTACGGGGGCGCGGGCGACGACTACGTGCTGGGCAGCCTGCGCGTGAGCGGCTCGGGCGGCGGCGGCGCGGGCAAGACGGTCAAGTGCGTGTTTCTGGATGAGGACGACGACGACGACGACGACGACGACGAGCTGCAGCTGCAGATCAAACAGGAGCCGGACGAGGAGGACGAGGAACCACCGCACCAGCAGCTCCTGCAGCCGCCGGGGCAGCAGCCGTCGCAGCTGCTGAGACGCTACAACGTCGCCAAAGTGCCCGCCAGCCCTACGCTGAGCAGCTCGGCGGAGTCCCCCGAGGGAGCGAGCCTCTACGACGAGGTGCGGGCCGGCGCGACCTCGGGCGCCGGGGGCGGCAGCCGCCTCTACTACAGCTTCAAGAACATCACCAAGCAGCACCCGCCGCCGCTCGCGCAGCCCGCGCTGTCGCCCGCGTCCTCGCGCTCGGTGTCCACCTCCTCGTCCAGCAGCAGCGGCAGCAGCAGCGGCAGCAGCGGCGAGGACGCCGACGACCTGATGTTCGACCTGAGCTTGAATTTCTCTCAAAGCGCGCACAGCGCCAGCGAGCAGCAGCTGGGGGGCGGCGCGGCGGCCGGGAACCTGTCCCTGTCGCTGGTGGATAAGGATTTGGATTCGTTCAGCGAGGGCAGCCTGGGCTCCCACTTCGAGTTCCCCGACTACTGCACGCCGGAGCTGAGCGAGATGATCGCGGGGGACTGGCTGGAGGCGAACTTCTCCGACCTGGTGTTCACATATTGAAAGGCGCCCGCTGCTCGCTCTTTCTCTCGGAGGGTGCAGAGCTGGGTTCCTTGGGAGGAAGTTGTAGTGGTGATGATGATGATGATAATGATGATGATGATGGTGGTGTTGATGGTGGCGGTGGTAGGGTGGAGGGGAGAGAAGAAGATGCTGATGATATTGATAAGATGTCGTGACGCAAAGAAATTGGAAAACATGATGAAAATTTTGGTGGAGTTAAAGTGAAATGAGTAGTTTTTAAACATTTTTCCTGTCCTTTTTTTGTCCCCCCTCCCTTCCTTTATCGTGTCTCAAGGTAGTTGCATACCTAGTCTGGAGTTGTGATTATTTTCCCAAAAAATGTGTTTTTGTAATTACTATTTCTTTTTCCTGAAATTCGTGATTGCAACAAAGGCAGAGGGGGCGGGGCGGGGGAGGGGAGGTAGGACCCGCTCCGGAAGGCGCTGTTTGAAGCTTGTCGGTCTTTGAAGTCTGGAAGACGTCTGCAGAGGACCCTTTTGGCAGCACAACTGTTACTCTAGGGAGTTGGTGGAGATATTTTTTTTTCTTAAGAGAACTTAAAGAACTGGTGATTTTTTTTTAACAAAAAAAGGGACCATTGCAACTTTTGTTAATTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGAGGGAGAAAACTGATGTCTTCTATGCATCCGATTCTTAACAAAACTGCAGGGAGCTTGAAAAAATGCAGACTGTACAAACGCTTACAAAAAAAAAAACTGTGAACTGACTTAAGATCAGAGTTTACTTTTCAGATCAAATTGTTTATGGTTTTACAAATGTGATTTCTACTTGCCAACTTTTTTTTTGTAACTTGTTCCCTTATACCTCCTTGATTGAATACCAGACAGCCTAGACCTCAGTACAA
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Task1_train_3111
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This mutation occurs in SOX11 (SRY-box transcription factor 11) on Chromosome 2. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; not provided
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CGGCTGATTTCTCTGGTGAAGGGATCCGGGCAGTGTCTTAGGAACTGCTCAAAGTTCCCAGATACCCAGTGCTGGGGGGTGTGGAGAAGGCGAGGGTGGCGACAGACCATACCTATGAAGCGGTGATTTTCTTTAATTGCCCCCAGAATATCCGTAGAGGTAGTAGGGACTCAATAAAGAAACACAAAGGAGACGAACACGGCACGATCGCCGGGGTCCGCGGCTGCTCTGCGAGGCCCAGCGCGCCCCAGGTCGCGGCTCCCCGGCCGCCAGCGCACCTTTCCATCTCCAGGGAAAATATTTAGACGGGAAACTCGAGTGCACCTTATTTTCTCTTTGGTTTATGAGTGACCCAGAAGGCTTCTAGCTCACAATCGCACGATTTCAGGACGAGGCTGCCGGAGAAGCGCTGGCGACCGAGGATGGGGGAAGGACAAAGAGGAAGAGGAGGCCTGGGAAGGAGAAAGGAGCGGCGGAGGGGCGGGGAGAGGACGGGGCGGGGAGAGGAGGGGCGGGGAGCAGAGGGAGAAGGGAAGGAGGGCGCCGGGCCCCTCGCAGGGACGCCGGGCGGGGCGCGGGCTTGCTGGAGCCTGCGGGACCCAGAGCCCGCTCCGGAGCCAGCCCTGGGAGTGGCCAGCTTGAACCCGAGGGCCCCGCAGACCGTTACTCCGGCCCCCGCCCGGGGCGGGGCGCGCGGGGGCGCGGCGCAGCCCAACCCGCACAGCCGCGTCCCCAAACACCACCGAGGAGGGAAAACAGACGGAGAAAAAGGACAAAACAGAAAAATGCAAAACGGGGGAGGGAGCTCACCGCCTCTCGAGCTTTAAATTGATTTCTTTGCCTTACAAAAAGGGAGAAAGGGAAAAGGAGAGCAGAGCCCACGTGCCGGGAAGGTTGCTGTCTTCAAGCGCCACCTTCCGTCGGCCAGGGCCGCCGCGGGGCTACCGGGCGGGCTCGGGGCGGCGACCCGGGGGAGCGGCCGAGCCCCGCGAGGGGCTCGCCGGGGAGCAGCTGCGCCCACCCCGGGGCAGGCCGGGCGCGGCTGACCGCGAGCCGGGCGGAGGCCGCCGTCTCAGGCTGGGCGCGTGCCCGAGTGTGTGCACCCGGGGAGTGAGCGCGCGCCGTCCGCTGTCGCCGTCGGGCCTCCCGGGGACTGGGCACAAAGGCGCGCGGGGCCTCTCCCGGGACCCGGTCCTCGGTTAGCGCCGGCGCCCGAACCATCCCGGTTCGCCCCGGGCCGCCCGCTCCCCGTGGTGCCGCGCGCCGCTTCCGAGCATCCCGGGAACAGGCGCATCTGTGCACACACGCGGATTTTTTAAAAATAACATATTTCTAGACATGCCTCCTCTCCCCCCACCCCCATCTTTGCAAAGCAGCCCGGAGGGCGGGGTGGAGGGGCGGGGCCTCCGAGTTAATAAAGGAAGATGGGCGGAGCCGGCCCCCAGCCATTGGCTAGCTGGGGGAGTGATGTCACCCATATGACACCCTGATAACTAGTTGAGAGAGAGACCTCAACTTTTTGCAGAAGGAGCGCGCGCGCCTGGGAGAGCTCGGGGTCCGGCGCTTGCGGTAGGAGCCACGAGCCGGAGAGAGGGGTCCCGGGCTGCCTCGACCGCCGTCGCCACCGCCTCTCCTGTCGCGACCGCAGCTCCCACCGCGCCGGCGGCCGTCGTCGCCGAAGCCACCACAGCCGCTGTGTGCAGCCTGGAAGGGGGGGCGGGGGGGAGGGGGGGAGCCGCGAAAGCGGGGTGCCGAGGACTTTGCAACTTGCCCAGGAAGGTGGAGGGGTGGGAGGGGGAGGGGGACCTCCGCACGAGACCCAGCGGCCCGGGTTGGAGCGTCCAGCCCTGCAGCGGATCATGGTGCAGCAGGCGGAGAGCTTGGAAGCGGAGAGCAACCTGCCCCGGGAGGCGCTGGACACGGAGGAGGGCGAATTCATGGCTTGCAGCCCGGTGGCCCTGGACGAGAGCGACCCAGACTGGTGCAAGACGGCGTCGGGCCACATCAAGCGGCCGATGAACGCGTTCATGGTATGGTCCAAGATCGAACGCAGGAAGATCATGGAGCAGTCTCCGGACATGCACAACGCCGAGATCTCCAAGAGGCTGGGCAAGCGCTGGAAAATGCTGAAGGACAGCGAGAAGATCCCGTTCATCCGGGAGGCGGAGCGGCTGCGGCTCAAGCACATGGCCGACTACCCCGACTACAAGTACCGGCCCCGGAAAAAGCCCAAAATGGACCCCTCGGCCAAGCCCAGCGCCAGCCAGAGCCCAGAGAAGAGCGCGGCCGGCGGCGGCGGCGGGAGCGCGGGCGGAGGCGCGGGCGGTGCCAAGACCTCCAAGGGCTCCAGCAAGAAATGCGGCAAGCTCAAGGCCCCCGCGGCCGCGGGCGCCAAGGCGGGCGCGGGCAAGGCGGCCCAGTCCGGGGACTACGGGGGCGCGGGCGACGACTACGTGCTGGGCAGCCTGCGCGTGAGCGGCTCGGGCGGCGGCGGCGCGGGCAAGACGGTCAAGTGCGTGTTTCTGGATGAGGACGACGACGACGACGACGACGACGACGAGCTGCAGCTGCAGATCAAACAGGAGCCGGACGAGGAGGACGAGGAACCACCGCACCAGCAGCTCCTGCAGCCGCCGGGGCAGCAGCCGTCGCAGCTGCTGAGACGCTACAACGTCGCCAAAGTGCCCGCCAGCCCTACGCTGAGCAGCTCGGCGGAGTCCCCCGAGGGAGCGAGCCTCTACGACGAGGTGCGGGCCGGCGCGACCTCGGGCGCCGGGGGCGGCAGCCGCCTCTACTACAGCTTCAAGAACATCACCAAGCAGCACCCGCCGCCGCTCGCGCAGCCCGCGCTGTCGCCCGCGTCCTCGCGCTCGGTGTCCACCTCCTCGTCCAGCAGCAGCGGCAGCAGCAGCGGCAGCAGCGGCGAGGACGCCGACGACCTGATGTTCGACCTGAGCTTGAATTTCTCTCAAAGCGCGCACAGCGCCAGCGAGCAGCAGCTGGGGGGCGGCGCGGCGGCCGGGAACCTGTCCCTGTCGCTGGTGGATAAGGATTTGGATTCGTTCAGCGAGGGCAGCCTGGGCTCCCACTTCGAGTTCCCCGACTACTGCACGCCGGAGCTGAGCGAGATGATCGCGGGGGACTGGCTGGAGGCGAACTTCTCCGACCTGGTGTTCACATATTGAAAGGCGCCCGCTGCTCGCTCTTTCTCTCGGAGGGTGCAGAGCTGGGTTCCTTGGGAGGAAGTTGTAGTGGTGATGATGATGATGATAATGATGATGATGATGGTGGTGTTGATGGTGGCGGTGGTAGGGTGGAGGGGAGAGAAGAAGATGCTGATGATATTGATAAGATGTCGTGACGCAAAGAAATTGGAAAACATGATGAAAATTTTGGTGGAGTTAAAGTGAAATGAGTAGTTTTTAAACATTTTTCCTGTCCTTTTTTTGTCCCCCCTCCCTTCCTTTATCGTGTCTCAAGGTAGTTGCATACCTAGTCTGGAGTTGTGATTATTTTCCCAAAAAATGTGTTTTTGTAATTACTATTTCTTTTTCCTGAAATTCGTGATTGCAACAAAGGCAGAGGGGGCGGGGCGGGGGAGGGGAGGTAGGACCCGCTCCGGAAGGCGCTGTTTGAAGCTTGTCGGTCTTTGAAGTCTGGAAGACGTCTGCAGAGGACCCTTTTGGCAGCACAACTGTTACTCTAGGGAGTTGGTGGAGATATTTTTTTTTCTTAAGAGAACTTAAAGAACTGGTGATTTTTTTTTAACAAAAAAAGGGACCATTGCAACTTTTGTTAATTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGAGGGAGAAAACTGATGTCTTCTATGCATCCGATTCTTAACAAAACTGCAGGGAGCTTGAAAAAATGCAGACTGTACAAACGCTTACAAAAAAAAAAACTGTGAACTGACTTAAGATCAGAGTTTACTTTTCAGATCAAATTGTTTATGGTTTTACAAATGTGATTTCTACTTGCCAACTTTTTTTTTGTAACTTGTTCCCTTATACCTCCTTGATTGAATACCAGACAGCCTAGACCTCAGTACAAAAGGTATTGAAA
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CGGCTGATTTCTCTGGTGAAGGGATCCGGGCAGTGTCTTAGGAACTGCTCAAAGTTCCCAGATACCCAGTGCTGGGGGGTGTGGAGAAGGCGAGGGTGGCGACAGACCATACCTATGAAGCGGTGATTTTCTTTAATTGCCCCCAGAATATCCGTAGAGGTAGTAGGGACTCAATAAAGAAACACAAAGGAGACGAACACGGCACGATCGCCGGGGTCCGCGGCTGCTCTGCGAGGCCCAGCGCGCCCCAGGTCGCGGCTCCCCGGCCGCCAGCGCACCTTTCCATCTCCAGGGAAAATATTTAGACGGGAAACTCGAGTGCACCTTATTTTCTCTTTGGTTTATGAGTGACCCAGAAGGCTTCTAGCTCACAATCGCACGATTTCAGGACGAGGCTGCCGGAGAAGCGCTGGCGACCGAGGATGGGGGAAGGACAAAGAGGAAGAGGAGGCCTGGGAAGGAGAAAGGAGCGGCGGAGGGGCGGGGAGAGGACGGGGCGGGGAGAGGAGGGGCGGGGAGCAGAGGGAGAAGGGAAGGAGGGCGCCGGGCCCCTCGCAGGGACGCCGGGCGGGGCGCGGGCTTGCTGGAGCCTGCGGGACCCAGAGCCCGCTCCGGAGCCAGCCCTGGGAGTGGCCAGCTTGAACCCGAGGGCCCCGCAGACCGTTACTCCGGCCCCCGCCCGGGGCGGGGCGCGCGGGGGCGCGGCGCAGCCCAACCCGCACAGCCGCGTCCCCAAACACCACCGAGGAGGGAAAACAGACGGAGAAAAAGGACAAAACAGAAAAATGCAAAACGGGGGAGGGAGCTCACCGCCTCTCGAGCTTTAAATTGATTTCTTTGCCTTACAAAAAGGGAGAAAGGGAAAAGGAGAGCAGAGCCCACGTGCCGGGAAGGTTGCTGTCTTCAAGCGCCACCTTCCGTCGGCCAGGGCCGCCGCGGGGCTACCGGGCGGGCTCGGGGCGGCGACCCGGGGGAGCGGCCGAGCCCCGCGAGGGGCTCGCCGGGGAGCAGCTGCGCCCACCCCGGGGCAGGCCGGGCGCGGCTGACCGCGAGCCGGGCGGAGGCCGCCGTCTCAGGCTGGGCGCGTGCCCGAGTGTGTGCACCCGGGGAGTGAGCGCGCGCCGTCCGCTGTCGCCGTCGGGCCTCCCGGGGACTGGGCACAAAGGCGCGCGGGGCCTCTCCCGGGACCCGGTCCTCGGTTAGCGCCGGCGCCCGAACCATCCCGGTTCGCCCCGGGCCGCCCGCTCCCCGTGGTGCCGCGCGCCGCTTCCGAGCATCCCGGGAACAGGCGCATCTGTGCACACACGCGGATTTTTTAAAAATAACATATTTCTAGACATGCCTCCTCTCCCCCCACCCCCATCTTTGCAAAGCAGCCCGGAGGGCGGGGTGGAGGGGCGGGGCCTCCGAGTTAATAAAGGAAGATGGGCGGAGCCGGCCCCCAGCCATTGGCTAGCTGGGGGAGTGATGTCACCCATATGACACCCTGATAACTAGTTGAGAGAGAGACCTCAACTTTTTGCAGAAGGAGCGCGCGCGCCTGGGAGAGCTCGGGGTCCGGCGCTTGCGGTAGGAGCCACGAGCCGGAGAGAGGGGTCCCGGGCTGCCTCGACCGCCGTCGCCACCGCCTCTCCTGTCGCGACCGCAGCTCCCACCGCGCCGGCGGCCGTCGTCGCCGAAGCCACCACAGCCGCTGTGTGCAGCCTGGAAGGGGGGGCGGGGGGGAGGGGGGGAGCCGCGAAAGCGGGGTGCCGAGGACTTTGCAACTTGCCCAGGAAGGTGGAGGGGTGGGAGGGGGAGGGGGACCTCCGCACGAGACCCAGCGGCCCGGGTTGGAGCGTCCAGCCCTGCAGCGGATCATGGTGCAGCAGGCGGAGAGCTTGGAAGCGGAGAGCAACCTGCCCCGGGAGGCGCTGGACACGGAGGAGGGCGAATTCATGGCTTGCAGCCCGGTGGCCCTGGACGAGAGCGACCCAGACTGGTGCAAGACGGCGTCGGGCCACATCAAGCGGCCGATGAACGCGTTCATGGTATGGTCCAAGATCGAAGGCAGGAAGATCATGGAGCAGTCTCCGGACATGCACAACGCCGAGATCTCCAAGAGGCTGGGCAAGCGCTGGAAAATGCTGAAGGACAGCGAGAAGATCCCGTTCATCCGGGAGGCGGAGCGGCTGCGGCTCAAGCACATGGCCGACTACCCCGACTACAAGTACCGGCCCCGGAAAAAGCCCAAAATGGACCCCTCGGCCAAGCCCAGCGCCAGCCAGAGCCCAGAGAAGAGCGCGGCCGGCGGCGGCGGCGGGAGCGCGGGCGGAGGCGCGGGCGGTGCCAAGACCTCCAAGGGCTCCAGCAAGAAATGCGGCAAGCTCAAGGCCCCCGCGGCCGCGGGCGCCAAGGCGGGCGCGGGCAAGGCGGCCCAGTCCGGGGACTACGGGGGCGCGGGCGACGACTACGTGCTGGGCAGCCTGCGCGTGAGCGGCTCGGGCGGCGGCGGCGCGGGCAAGACGGTCAAGTGCGTGTTTCTGGATGAGGACGACGACGACGACGACGACGACGACGAGCTGCAGCTGCAGATCAAACAGGAGCCGGACGAGGAGGACGAGGAACCACCGCACCAGCAGCTCCTGCAGCCGCCGGGGCAGCAGCCGTCGCAGCTGCTGAGACGCTACAACGTCGCCAAAGTGCCCGCCAGCCCTACGCTGAGCAGCTCGGCGGAGTCCCCCGAGGGAGCGAGCCTCTACGACGAGGTGCGGGCCGGCGCGACCTCGGGCGCCGGGGGCGGCAGCCGCCTCTACTACAGCTTCAAGAACATCACCAAGCAGCACCCGCCGCCGCTCGCGCAGCCCGCGCTGTCGCCCGCGTCCTCGCGCTCGGTGTCCACCTCCTCGTCCAGCAGCAGCGGCAGCAGCAGCGGCAGCAGCGGCGAGGACGCCGACGACCTGATGTTCGACCTGAGCTTGAATTTCTCTCAAAGCGCGCACAGCGCCAGCGAGCAGCAGCTGGGGGGCGGCGCGGCGGCCGGGAACCTGTCCCTGTCGCTGGTGGATAAGGATTTGGATTCGTTCAGCGAGGGCAGCCTGGGCTCCCACTTCGAGTTCCCCGACTACTGCACGCCGGAGCTGAGCGAGATGATCGCGGGGGACTGGCTGGAGGCGAACTTCTCCGACCTGGTGTTCACATATTGAAAGGCGCCCGCTGCTCGCTCTTTCTCTCGGAGGGTGCAGAGCTGGGTTCCTTGGGAGGAAGTTGTAGTGGTGATGATGATGATGATAATGATGATGATGATGGTGGTGTTGATGGTGGCGGTGGTAGGGTGGAGGGGAGAGAAGAAGATGCTGATGATATTGATAAGATGTCGTGACGCAAAGAAATTGGAAAACATGATGAAAATTTTGGTGGAGTTAAAGTGAAATGAGTAGTTTTTAAACATTTTTCCTGTCCTTTTTTTGTCCCCCCTCCCTTCCTTTATCGTGTCTCAAGGTAGTTGCATACCTAGTCTGGAGTTGTGATTATTTTCCCAAAAAATGTGTTTTTGTAATTACTATTTCTTTTTCCTGAAATTCGTGATTGCAACAAAGGCAGAGGGGGCGGGGCGGGGGAGGGGAGGTAGGACCCGCTCCGGAAGGCGCTGTTTGAAGCTTGTCGGTCTTTGAAGTCTGGAAGACGTCTGCAGAGGACCCTTTTGGCAGCACAACTGTTACTCTAGGGAGTTGGTGGAGATATTTTTTTTTCTTAAGAGAACTTAAAGAACTGGTGATTTTTTTTTAACAAAAAAAGGGACCATTGCAACTTTTGTTAATTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGAGGGAGAAAACTGATGTCTTCTATGCATCCGATTCTTAACAAAACTGCAGGGAGCTTGAAAAAATGCAGACTGTACAAACGCTTACAAAAAAAAAAACTGTGAACTGACTTAAGATCAGAGTTTACTTTTCAGATCAAATTGTTTATGGTTTTACAAATGTGATTTCTACTTGCCAACTTTTTTTTTGTAACTTGTTCCCTTATACCTCCTTGATTGAATACCAGACAGCCTAGACCTCAGTACAAAAGGTATTGAAA
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Task1_train_3112
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A variant has been detected on Chromosome 2 in SOX11 (SRY-box transcription factor 11). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
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GATACCCAGTGCTGGGGGGTGTGGAGAAGGCGAGGGTGGCGACAGACCATACCTATGAAGCGGTGATTTTCTTTAATTGCCCCCAGAATATCCGTAGAGGTAGTAGGGACTCAATAAAGAAACACAAAGGAGACGAACACGGCACGATCGCCGGGGTCCGCGGCTGCTCTGCGAGGCCCAGCGCGCCCCAGGTCGCGGCTCCCCGGCCGCCAGCGCACCTTTCCATCTCCAGGGAAAATATTTAGACGGGAAACTCGAGTGCACCTTATTTTCTCTTTGGTTTATGAGTGACCCAGAAGGCTTCTAGCTCACAATCGCACGATTTCAGGACGAGGCTGCCGGAGAAGCGCTGGCGACCGAGGATGGGGGAAGGACAAAGAGGAAGAGGAGGCCTGGGAAGGAGAAAGGAGCGGCGGAGGGGCGGGGAGAGGACGGGGCGGGGAGAGGAGGGGCGGGGAGCAGAGGGAGAAGGGAAGGAGGGCGCCGGGCCCCTCGCAGGGACGCCGGGCGGGGCGCGGGCTTGCTGGAGCCTGCGGGACCCAGAGCCCGCTCCGGAGCCAGCCCTGGGAGTGGCCAGCTTGAACCCGAGGGCCCCGCAGACCGTTACTCCGGCCCCCGCCCGGGGCGGGGCGCGCGGGGGCGCGGCGCAGCCCAACCCGCACAGCCGCGTCCCCAAACACCACCGAGGAGGGAAAACAGACGGAGAAAAAGGACAAAACAGAAAAATGCAAAACGGGGGAGGGAGCTCACCGCCTCTCGAGCTTTAAATTGATTTCTTTGCCTTACAAAAAGGGAGAAAGGGAAAAGGAGAGCAGAGCCCACGTGCCGGGAAGGTTGCTGTCTTCAAGCGCCACCTTCCGTCGGCCAGGGCCGCCGCGGGGCTACCGGGCGGGCTCGGGGCGGCGACCCGGGGGAGCGGCCGAGCCCCGCGAGGGGCTCGCCGGGGAGCAGCTGCGCCCACCCCGGGGCAGGCCGGGCGCGGCTGACCGCGAGCCGGGCGGAGGCCGCCGTCTCAGGCTGGGCGCGTGCCCGAGTGTGTGCACCCGGGGAGTGAGCGCGCGCCGTCCGCTGTCGCCGTCGGGCCTCCCGGGGACTGGGCACAAAGGCGCGCGGGGCCTCTCCCGGGACCCGGTCCTCGGTTAGCGCCGGCGCCCGAACCATCCCGGTTCGCCCCGGGCCGCCCGCTCCCCGTGGTGCCGCGCGCCGCTTCCGAGCATCCCGGGAACAGGCGCATCTGTGCACACACGCGGATTTTTTAAAAATAACATATTTCTAGACATGCCTCCTCTCCCCCCACCCCCATCTTTGCAAAGCAGCCCGGAGGGCGGGGTGGAGGGGCGGGGCCTCCGAGTTAATAAAGGAAGATGGGCGGAGCCGGCCCCCAGCCATTGGCTAGCTGGGGGAGTGATGTCACCCATATGACACCCTGATAACTAGTTGAGAGAGAGACCTCAACTTTTTGCAGAAGGAGCGCGCGCGCCTGGGAGAGCTCGGGGTCCGGCGCTTGCGGTAGGAGCCACGAGCCGGAGAGAGGGGTCCCGGGCTGCCTCGACCGCCGTCGCCACCGCCTCTCCTGTCGCGACCGCAGCTCCCACCGCGCCGGCGGCCGTCGTCGCCGAAGCCACCACAGCCGCTGTGTGCAGCCTGGAAGGGGGGGCGGGGGGGAGGGGGGGAGCCGCGAAAGCGGGGTGCCGAGGACTTTGCAACTTGCCCAGGAAGGTGGAGGGGTGGGAGGGGGAGGGGGACCTCCGCACGAGACCCAGCGGCCCGGGTTGGAGCGTCCAGCCCTGCAGCGGATCATGGTGCAGCAGGCGGAGAGCTTGGAAGCGGAGAGCAACCTGCCCCGGGAGGCGCTGGACACGGAGGAGGGCGAATTCATGGCTTGCAGCCCGGTGGCCCTGGACGAGAGCGACCCAGACTGGTGCAAGACGGCGTCGGGCCACATCAAGCGGCCGATGAACGCGTTCATGGTATGGTCCAAGATCGAACGCAGGAAGATCATGGAGCAGTCTCCGGACATGCACAACGCCGAGATCTCCAAGAGGCTGGGCAAGCGCTGGAAAATGCTGAAGGACAGCGAGAAGATCCCGTTCATCCGGGAGGCGGAGCGGCTGCGGCTCAAGCACATGGCCGACTACCCCGACTACAAGTACCGGCCCCGGAAAAAGCCCAAAATGGACCCCTCGGCCAAGCCCAGCGCCAGCCAGAGCCCAGAGAAGAGCGCGGCCGGCGGCGGCGGCGGGAGCGCGGGCGGAGGCGCGGGCGGTGCCAAGACCTCCAAGGGCTCCAGCAAGAAATGCGGCAAGCTCAAGGCCCCCGCGGCCGCGGGCGCCAAGGCGGGCGCGGGCAAGGCGGCCCAGTCCGGGGACTACGGGGGCGCGGGCGACGACTACGTGCTGGGCAGCCTGCGCGTGAGCGGCTCGGGCGGCGGCGGCGCGGGCAAGACGGTCAAGTGCGTGTTTCTGGATGAGGACGACGACGACGACGACGACGACGACGAGCTGCAGCTGCAGATCAAACAGGAGCCGGACGAGGAGGACGAGGAACCACCGCACCAGCAGCTCCTGCAGCCGCCGGGGCAGCAGCCGTCGCAGCTGCTGAGACGCTACAACGTCGCCAAAGTGCCCGCCAGCCCTACGCTGAGCAGCTCGGCGGAGTCCCCCGAGGGAGCGAGCCTCTACGACGAGGTGCGGGCCGGCGCGACCTCGGGCGCCGGGGGCGGCAGCCGCCTCTACTACAGCTTCAAGAACATCACCAAGCAGCACCCGCCGCCGCTCGCGCAGCCCGCGCTGTCGCCCGCGTCCTCGCGCTCGGTGTCCACCTCCTCGTCCAGCAGCAGCGGCAGCAGCAGCGGCAGCAGCGGCGAGGACGCCGACGACCTGATGTTCGACCTGAGCTTGAATTTCTCTCAAAGCGCGCACAGCGCCAGCGAGCAGCAGCTGGGGGGCGGCGCGGCGGCCGGGAACCTGTCCCTGTCGCTGGTGGATAAGGATTTGGATTCGTTCAGCGAGGGCAGCCTGGGCTCCCACTTCGAGTTCCCCGACTACTGCACGCCGGAGCTGAGCGAGATGATCGCGGGGGACTGGCTGGAGGCGAACTTCTCCGACCTGGTGTTCACATATTGAAAGGCGCCCGCTGCTCGCTCTTTCTCTCGGAGGGTGCAGAGCTGGGTTCCTTGGGAGGAAGTTGTAGTGGTGATGATGATGATGATAATGATGATGATGATGGTGGTGTTGATGGTGGCGGTGGTAGGGTGGAGGGGAGAGAAGAAGATGCTGATGATATTGATAAGATGTCGTGACGCAAAGAAATTGGAAAACATGATGAAAATTTTGGTGGAGTTAAAGTGAAATGAGTAGTTTTTAAACATTTTTCCTGTCCTTTTTTTGTCCCCCCTCCCTTCCTTTATCGTGTCTCAAGGTAGTTGCATACCTAGTCTGGAGTTGTGATTATTTTCCCAAAAAATGTGTTTTTGTAATTACTATTTCTTTTTCCTGAAATTCGTGATTGCAACAAAGGCAGAGGGGGCGGGGCGGGGGAGGGGAGGTAGGACCCGCTCCGGAAGGCGCTGTTTGAAGCTTGTCGGTCTTTGAAGTCTGGAAGACGTCTGCAGAGGACCCTTTTGGCAGCACAACTGTTACTCTAGGGAGTTGGTGGAGATATTTTTTTTTCTTAAGAGAACTTAAAGAACTGGTGATTTTTTTTTAACAAAAAAAGGGACCATTGCAACTTTTGTTAATTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGAGGGAGAAAACTGATGTCTTCTATGCATCCGATTCTTAACAAAACTGCAGGGAGCTTGAAAAAATGCAGACTGTACAAACGCTTACAAAAAAAAAAACTGTGAACTGACTTAAGATCAGAGTTTACTTTTCAGATCAAATTGTTTATGGTTTTACAAATGTGATTTCTACTTGCCAACTTTTTTTTTGTAACTTGTTCCCTTATACCTCCTTGATTGAATACCAGACAGCCTAGACCTCAGTACAAAAGGTATTGAAACATTTTTGATACATAACAGACCTCAGTCTTTTTTAAAAATTAATATATTTTCAGGCGTAT
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GATACCCAGTGCTGGGGGGTGTGGAGAAGGCGAGGGTGGCGACAGACCATACCTATGAAGCGGTGATTTTCTTTAATTGCCCCCAGAATATCCGTAGAGGTAGTAGGGACTCAATAAAGAAACACAAAGGAGACGAACACGGCACGATCGCCGGGGTCCGCGGCTGCTCTGCGAGGCCCAGCGCGCCCCAGGTCGCGGCTCCCCGGCCGCCAGCGCACCTTTCCATCTCCAGGGAAAATATTTAGACGGGAAACTCGAGTGCACCTTATTTTCTCTTTGGTTTATGAGTGACCCAGAAGGCTTCTAGCTCACAATCGCACGATTTCAGGACGAGGCTGCCGGAGAAGCGCTGGCGACCGAGGATGGGGGAAGGACAAAGAGGAAGAGGAGGCCTGGGAAGGAGAAAGGAGCGGCGGAGGGGCGGGGAGAGGACGGGGCGGGGAGAGGAGGGGCGGGGAGCAGAGGGAGAAGGGAAGGAGGGCGCCGGGCCCCTCGCAGGGACGCCGGGCGGGGCGCGGGCTTGCTGGAGCCTGCGGGACCCAGAGCCCGCTCCGGAGCCAGCCCTGGGAGTGGCCAGCTTGAACCCGAGGGCCCCGCAGACCGTTACTCCGGCCCCCGCCCGGGGCGGGGCGCGCGGGGGCGCGGCGCAGCCCAACCCGCACAGCCGCGTCCCCAAACACCACCGAGGAGGGAAAACAGACGGAGAAAAAGGACAAAACAGAAAAATGCAAAACGGGGGAGGGAGCTCACCGCCTCTCGAGCTTTAAATTGATTTCTTTGCCTTACAAAAAGGGAGAAAGGGAAAAGGAGAGCAGAGCCCACGTGCCGGGAAGGTTGCTGTCTTCAAGCGCCACCTTCCGTCGGCCAGGGCCGCCGCGGGGCTACCGGGCGGGCTCGGGGCGGCGACCCGGGGGAGCGGCCGAGCCCCGCGAGGGGCTCGCCGGGGAGCAGCTGCGCCCACCCCGGGGCAGGCCGGGCGCGGCTGACCGCGAGCCGGGCGGAGGCCGCCGTCTCAGGCTGGGCGCGTGCCCGAGTGTGTGCACCCGGGGAGTGAGCGCGCGCCGTCCGCTGTCGCCGTCGGGCCTCCCGGGGACTGGGCACAAAGGCGCGCGGGGCCTCTCCCGGGACCCGGTCCTCGGTTAGCGCCGGCGCCCGAACCATCCCGGTTCGCCCCGGGCCGCCCGCTCCCCGTGGTGCCGCGCGCCGCTTCCGAGCATCCCGGGAACAGGCGCATCTGTGCACACACGCGGATTTTTTAAAAATAACATATTTCTAGACATGCCTCCTCTCCCCCCACCCCCATCTTTGCAAAGCAGCCCGGAGGGCGGGGTGGAGGGGCGGGGCCTCCGAGTTAATAAAGGAAGATGGGCGGAGCCGGCCCCCAGCCATTGGCTAGCTGGGGGAGTGATGTCACCCATATGACACCCTGATAACTAGTTGAGAGAGAGACCTCAACTTTTTGCAGAAGGAGCGCGCGCGCCTGGGAGAGCTCGGGGTCCGGCGCTTGCGGTAGGAGCCACGAGCCGGAGAGAGGGGTCCCGGGCTGCCTCGACCGCCGTCGCCACCGCCTCTCCTGTCGCGACCGCAGCTCCCACCGCGCCGGCGGCCGTCGTCGCCGAAGCCACCACAGCCGCTGTGTGCAGCCTGGAAGGGGGGGCGGGGGGGAGGGGGGGAGCCGCGAAAGCGGGGTGCCGAGGACTTTGCAACTTGCCCAGGAAGGTGGAGGGGTGGGAGGGGGAGGGGGACCTCCGCACGAGACCCAGCGGCCCGGGTTGGAGCGTCCAGCCCTGCAGCGGATCATGGTGCAGCAGGCGGAGAGCTTGGAAGCGGAGAGCAACCTGCCCCGGGAGGCGCTGGACACGGAGGAGGGCGAATTCATGGCTTGCAGCCCGGTGGCCCTGGACGAGAGCGACCCAGACTGGTGCAAGACGGCGTCGGGCCACATCAAGCGGCCGATGAACGCGTTCATGGTATGGTCCAAGATCGAACGCAGGAAGATCATGGAGCAGTCTCCGGACATGCACAACGCCGAGATCTCCAAGAGGCTGCGCAAGCGCTGGAAAATGCTGAAGGACAGCGAGAAGATCCCGTTCATCCGGGAGGCGGAGCGGCTGCGGCTCAAGCACATGGCCGACTACCCCGACTACAAGTACCGGCCCCGGAAAAAGCCCAAAATGGACCCCTCGGCCAAGCCCAGCGCCAGCCAGAGCCCAGAGAAGAGCGCGGCCGGCGGCGGCGGCGGGAGCGCGGGCGGAGGCGCGGGCGGTGCCAAGACCTCCAAGGGCTCCAGCAAGAAATGCGGCAAGCTCAAGGCCCCCGCGGCCGCGGGCGCCAAGGCGGGCGCGGGCAAGGCGGCCCAGTCCGGGGACTACGGGGGCGCGGGCGACGACTACGTGCTGGGCAGCCTGCGCGTGAGCGGCTCGGGCGGCGGCGGCGCGGGCAAGACGGTCAAGTGCGTGTTTCTGGATGAGGACGACGACGACGACGACGACGACGACGAGCTGCAGCTGCAGATCAAACAGGAGCCGGACGAGGAGGACGAGGAACCACCGCACCAGCAGCTCCTGCAGCCGCCGGGGCAGCAGCCGTCGCAGCTGCTGAGACGCTACAACGTCGCCAAAGTGCCCGCCAGCCCTACGCTGAGCAGCTCGGCGGAGTCCCCCGAGGGAGCGAGCCTCTACGACGAGGTGCGGGCCGGCGCGACCTCGGGCGCCGGGGGCGGCAGCCGCCTCTACTACAGCTTCAAGAACATCACCAAGCAGCACCCGCCGCCGCTCGCGCAGCCCGCGCTGTCGCCCGCGTCCTCGCGCTCGGTGTCCACCTCCTCGTCCAGCAGCAGCGGCAGCAGCAGCGGCAGCAGCGGCGAGGACGCCGACGACCTGATGTTCGACCTGAGCTTGAATTTCTCTCAAAGCGCGCACAGCGCCAGCGAGCAGCAGCTGGGGGGCGGCGCGGCGGCCGGGAACCTGTCCCTGTCGCTGGTGGATAAGGATTTGGATTCGTTCAGCGAGGGCAGCCTGGGCTCCCACTTCGAGTTCCCCGACTACTGCACGCCGGAGCTGAGCGAGATGATCGCGGGGGACTGGCTGGAGGCGAACTTCTCCGACCTGGTGTTCACATATTGAAAGGCGCCCGCTGCTCGCTCTTTCTCTCGGAGGGTGCAGAGCTGGGTTCCTTGGGAGGAAGTTGTAGTGGTGATGATGATGATGATAATGATGATGATGATGGTGGTGTTGATGGTGGCGGTGGTAGGGTGGAGGGGAGAGAAGAAGATGCTGATGATATTGATAAGATGTCGTGACGCAAAGAAATTGGAAAACATGATGAAAATTTTGGTGGAGTTAAAGTGAAATGAGTAGTTTTTAAACATTTTTCCTGTCCTTTTTTTGTCCCCCCTCCCTTCCTTTATCGTGTCTCAAGGTAGTTGCATACCTAGTCTGGAGTTGTGATTATTTTCCCAAAAAATGTGTTTTTGTAATTACTATTTCTTTTTCCTGAAATTCGTGATTGCAACAAAGGCAGAGGGGGCGGGGCGGGGGAGGGGAGGTAGGACCCGCTCCGGAAGGCGCTGTTTGAAGCTTGTCGGTCTTTGAAGTCTGGAAGACGTCTGCAGAGGACCCTTTTGGCAGCACAACTGTTACTCTAGGGAGTTGGTGGAGATATTTTTTTTTCTTAAGAGAACTTAAAGAACTGGTGATTTTTTTTTAACAAAAAAAGGGACCATTGCAACTTTTGTTAATTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGAGGGAGAAAACTGATGTCTTCTATGCATCCGATTCTTAACAAAACTGCAGGGAGCTTGAAAAAATGCAGACTGTACAAACGCTTACAAAAAAAAAAACTGTGAACTGACTTAAGATCAGAGTTTACTTTTCAGATCAAATTGTTTATGGTTTTACAAATGTGATTTCTACTTGCCAACTTTTTTTTTGTAACTTGTTCCCTTATACCTCCTTGATTGAATACCAGACAGCCTAGACCTCAGTACAAAAGGTATTGAAACATTTTTGATACATAACAGACCTCAGTCTTTTTTAAAAATTAATATATTTTCAGGCGTAT
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Task1_train_3113
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A variant on Chromosome 2 in gene SOX11 (SRY-box transcription factor 11) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
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TAGGGACTCAATAAAGAAACACAAAGGAGACGAACACGGCACGATCGCCGGGGTCCGCGGCTGCTCTGCGAGGCCCAGCGCGCCCCAGGTCGCGGCTCCCCGGCCGCCAGCGCACCTTTCCATCTCCAGGGAAAATATTTAGACGGGAAACTCGAGTGCACCTTATTTTCTCTTTGGTTTATGAGTGACCCAGAAGGCTTCTAGCTCACAATCGCACGATTTCAGGACGAGGCTGCCGGAGAAGCGCTGGCGACCGAGGATGGGGGAAGGACAAAGAGGAAGAGGAGGCCTGGGAAGGAGAAAGGAGCGGCGGAGGGGCGGGGAGAGGACGGGGCGGGGAGAGGAGGGGCGGGGAGCAGAGGGAGAAGGGAAGGAGGGCGCCGGGCCCCTCGCAGGGACGCCGGGCGGGGCGCGGGCTTGCTGGAGCCTGCGGGACCCAGAGCCCGCTCCGGAGCCAGCCCTGGGAGTGGCCAGCTTGAACCCGAGGGCCCCGCAGACCGTTACTCCGGCCCCCGCCCGGGGCGGGGCGCGCGGGGGCGCGGCGCAGCCCAACCCGCACAGCCGCGTCCCCAAACACCACCGAGGAGGGAAAACAGACGGAGAAAAAGGACAAAACAGAAAAATGCAAAACGGGGGAGGGAGCTCACCGCCTCTCGAGCTTTAAATTGATTTCTTTGCCTTACAAAAAGGGAGAAAGGGAAAAGGAGAGCAGAGCCCACGTGCCGGGAAGGTTGCTGTCTTCAAGCGCCACCTTCCGTCGGCCAGGGCCGCCGCGGGGCTACCGGGCGGGCTCGGGGCGGCGACCCGGGGGAGCGGCCGAGCCCCGCGAGGGGCTCGCCGGGGAGCAGCTGCGCCCACCCCGGGGCAGGCCGGGCGCGGCTGACCGCGAGCCGGGCGGAGGCCGCCGTCTCAGGCTGGGCGCGTGCCCGAGTGTGTGCACCCGGGGAGTGAGCGCGCGCCGTCCGCTGTCGCCGTCGGGCCTCCCGGGGACTGGGCACAAAGGCGCGCGGGGCCTCTCCCGGGACCCGGTCCTCGGTTAGCGCCGGCGCCCGAACCATCCCGGTTCGCCCCGGGCCGCCCGCTCCCCGTGGTGCCGCGCGCCGCTTCCGAGCATCCCGGGAACAGGCGCATCTGTGCACACACGCGGATTTTTTAAAAATAACATATTTCTAGACATGCCTCCTCTCCCCCCACCCCCATCTTTGCAAAGCAGCCCGGAGGGCGGGGTGGAGGGGCGGGGCCTCCGAGTTAATAAAGGAAGATGGGCGGAGCCGGCCCCCAGCCATTGGCTAGCTGGGGGAGTGATGTCACCCATATGACACCCTGATAACTAGTTGAGAGAGAGACCTCAACTTTTTGCAGAAGGAGCGCGCGCGCCTGGGAGAGCTCGGGGTCCGGCGCTTGCGGTAGGAGCCACGAGCCGGAGAGAGGGGTCCCGGGCTGCCTCGACCGCCGTCGCCACCGCCTCTCCTGTCGCGACCGCAGCTCCCACCGCGCCGGCGGCCGTCGTCGCCGAAGCCACCACAGCCGCTGTGTGCAGCCTGGAAGGGGGGGCGGGGGGGAGGGGGGGAGCCGCGAAAGCGGGGTGCCGAGGACTTTGCAACTTGCCCAGGAAGGTGGAGGGGTGGGAGGGGGAGGGGGACCTCCGCACGAGACCCAGCGGCCCGGGTTGGAGCGTCCAGCCCTGCAGCGGATCATGGTGCAGCAGGCGGAGAGCTTGGAAGCGGAGAGCAACCTGCCCCGGGAGGCGCTGGACACGGAGGAGGGCGAATTCATGGCTTGCAGCCCGGTGGCCCTGGACGAGAGCGACCCAGACTGGTGCAAGACGGCGTCGGGCCACATCAAGCGGCCGATGAACGCGTTCATGGTATGGTCCAAGATCGAACGCAGGAAGATCATGGAGCAGTCTCCGGACATGCACAACGCCGAGATCTCCAAGAGGCTGGGCAAGCGCTGGAAAATGCTGAAGGACAGCGAGAAGATCCCGTTCATCCGGGAGGCGGAGCGGCTGCGGCTCAAGCACATGGCCGACTACCCCGACTACAAGTACCGGCCCCGGAAAAAGCCCAAAATGGACCCCTCGGCCAAGCCCAGCGCCAGCCAGAGCCCAGAGAAGAGCGCGGCCGGCGGCGGCGGCGGGAGCGCGGGCGGAGGCGCGGGCGGTGCCAAGACCTCCAAGGGCTCCAGCAAGAAATGCGGCAAGCTCAAGGCCCCCGCGGCCGCGGGCGCCAAGGCGGGCGCGGGCAAGGCGGCCCAGTCCGGGGACTACGGGGGCGCGGGCGACGACTACGTGCTGGGCAGCCTGCGCGTGAGCGGCTCGGGCGGCGGCGGCGCGGGCAAGACGGTCAAGTGCGTGTTTCTGGATGAGGACGACGACGACGACGACGACGACGACGAGCTGCAGCTGCAGATCAAACAGGAGCCGGACGAGGAGGACGAGGAACCACCGCACCAGCAGCTCCTGCAGCCGCCGGGGCAGCAGCCGTCGCAGCTGCTGAGACGCTACAACGTCGCCAAAGTGCCCGCCAGCCCTACGCTGAGCAGCTCGGCGGAGTCCCCCGAGGGAGCGAGCCTCTACGACGAGGTGCGGGCCGGCGCGACCTCGGGCGCCGGGGGCGGCAGCCGCCTCTACTACAGCTTCAAGAACATCACCAAGCAGCACCCGCCGCCGCTCGCGCAGCCCGCGCTGTCGCCCGCGTCCTCGCGCTCGGTGTCCACCTCCTCGTCCAGCAGCAGCGGCAGCAGCAGCGGCAGCAGCGGCGAGGACGCCGACGACCTGATGTTCGACCTGAGCTTGAATTTCTCTCAAAGCGCGCACAGCGCCAGCGAGCAGCAGCTGGGGGGCGGCGCGGCGGCCGGGAACCTGTCCCTGTCGCTGGTGGATAAGGATTTGGATTCGTTCAGCGAGGGCAGCCTGGGCTCCCACTTCGAGTTCCCCGACTACTGCACGCCGGAGCTGAGCGAGATGATCGCGGGGGACTGGCTGGAGGCGAACTTCTCCGACCTGGTGTTCACATATTGAAAGGCGCCCGCTGCTCGCTCTTTCTCTCGGAGGGTGCAGAGCTGGGTTCCTTGGGAGGAAGTTGTAGTGGTGATGATGATGATGATAATGATGATGATGATGGTGGTGTTGATGGTGGCGGTGGTAGGGTGGAGGGGAGAGAAGAAGATGCTGATGATATTGATAAGATGTCGTGACGCAAAGAAATTGGAAAACATGATGAAAATTTTGGTGGAGTTAAAGTGAAATGAGTAGTTTTTAAACATTTTTCCTGTCCTTTTTTTGTCCCCCCTCCCTTCCTTTATCGTGTCTCAAGGTAGTTGCATACCTAGTCTGGAGTTGTGATTATTTTCCCAAAAAATGTGTTTTTGTAATTACTATTTCTTTTTCCTGAAATTCGTGATTGCAACAAAGGCAGAGGGGGCGGGGCGGGGGAGGGGAGGTAGGACCCGCTCCGGAAGGCGCTGTTTGAAGCTTGTCGGTCTTTGAAGTCTGGAAGACGTCTGCAGAGGACCCTTTTGGCAGCACAACTGTTACTCTAGGGAGTTGGTGGAGATATTTTTTTTTCTTAAGAGAACTTAAAGAACTGGTGATTTTTTTTTAACAAAAAAAGGGACCATTGCAACTTTTGTTAATTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGAGGGAGAAAACTGATGTCTTCTATGCATCCGATTCTTAACAAAACTGCAGGGAGCTTGAAAAAATGCAGACTGTACAAACGCTTACAAAAAAAAAAACTGTGAACTGACTTAAGATCAGAGTTTACTTTTCAGATCAAATTGTTTATGGTTTTACAAATGTGATTTCTACTTGCCAACTTTTTTTTTGTAACTTGTTCCCTTATACCTCCTTGATTGAATACCAGACAGCCTAGACCTCAGTACAAAAGGTATTGAAACATTTTTGATACATAACAGACCTCAGTCTTTTTTAAAAATTAATATATTTTCAGGCGTATTTTTGTACAGTGAAAAGGGAACATTCTTGCTGTGTTTTTTCAGTAAGACTTTCAGGCACTTCTTCCCTTTTGATTTCTTTTTTTTCCTCTGTTTTTTAGCATG
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TAGGGACTCAATAAAGAAACACAAAGGAGACGAACACGGCACGATCGCCGGGGTCCGCGGCTGCTCTGCGAGGCCCAGCGCGCCCCAGGTCGCGGCTCCCCGGCCGCCAGCGCACCTTTCCATCTCCAGGGAAAATATTTAGACGGGAAACTCGAGTGCACCTTATTTTCTCTTTGGTTTATGAGTGACCCAGAAGGCTTCTAGCTCACAATCGCACGATTTCAGGACGAGGCTGCCGGAGAAGCGCTGGCGACCGAGGATGGGGGAAGGACAAAGAGGAAGAGGAGGCCTGGGAAGGAGAAAGGAGCGGCGGAGGGGCGGGGAGAGGACGGGGCGGGGAGAGGAGGGGCGGGGAGCAGAGGGAGAAGGGAAGGAGGGCGCCGGGCCCCTCGCAGGGACGCCGGGCGGGGCGCGGGCTTGCTGGAGCCTGCGGGACCCAGAGCCCGCTCCGGAGCCAGCCCTGGGAGTGGCCAGCTTGAACCCGAGGGCCCCGCAGACCGTTACTCCGGCCCCCGCCCGGGGCGGGGCGCGCGGGGGCGCGGCGCAGCCCAACCCGCACAGCCGCGTCCCCAAACACCACCGAGGAGGGAAAACAGACGGAGAAAAAGGACAAAACAGAAAAATGCAAAACGGGGGAGGGAGCTCACCGCCTCTCGAGCTTTAAATTGATTTCTTTGCCTTACAAAAAGGGAGAAAGGGAAAAGGAGAGCAGAGCCCACGTGCCGGGAAGGTTGCTGTCTTCAAGCGCCACCTTCCGTCGGCCAGGGCCGCCGCGGGGCTACCGGGCGGGCTCGGGGCGGCGACCCGGGGGAGCGGCCGAGCCCCGCGAGGGGCTCGCCGGGGAGCAGCTGCGCCCACCCCGGGGCAGGCCGGGCGCGGCTGACCGCGAGCCGGGCGGAGGCCGCCGTCTCAGGCTGGGCGCGTGCCCGAGTGTGTGCACCCGGGGAGTGAGCGCGCGCCGTCCGCTGTCGCCGTCGGGCCTCCCGGGGACTGGGCACAAAGGCGCGCGGGGCCTCTCCCGGGACCCGGTCCTCGGTTAGCGCCGGCGCCCGAACCATCCCGGTTCGCCCCGGGCCGCCCGCTCCCCGTGGTGCCGCGCGCCGCTTCCGAGCATCCCGGGAACAGGCGCATCTGTGCACACACGCGGATTTTTTAAAAATAACATATTTCTAGACATGCCTCCTCTCCCCCCACCCCCATCTTTGCAAAGCAGCCCGGAGGGCGGGGTGGAGGGGCGGGGCCTCCGAGTTAATAAAGGAAGATGGGCGGAGCCGGCCCCCAGCCATTGGCTAGCTGGGGGAGTGATGTCACCCATATGACACCCTGATAACTAGTTGAGAGAGAGACCTCAACTTTTTGCAGAAGGAGCGCGCGCGCCTGGGAGAGCTCGGGGTCCGGCGCTTGCGGTAGGAGCCACGAGCCGGAGAGAGGGGTCCCGGGCTGCCTCGACCGCCGTCGCCACCGCCTCTCCTGTCGCGACCGCAGCTCCCACCGCGCCGGCGGCCGTCGTCGCCGAAGCCACCACAGCCGCTGTGTGCAGCCTGGAAGGGGGGGCGGGGGGGAGGGGGGGAGCCGCGAAAGCGGGGTGCCGAGGACTTTGCAACTTGCCCAGGAAGGTGGAGGGGTGGGAGGGGGAGGGGGACCTCCGCACGAGACCCAGCGGCCCGGGTTGGAGCGTCCAGCCCTGCAGCGGATCATGGTGCAGCAGGCGGAGAGCTTGGAAGCGGAGAGCAACCTGCCCCGGGAGGCGCTGGACACGGAGGAGGGCGAATTCATGGCTTGCAGCCCGGTGGCCCTGGACGAGAGCGACCCAGACTGGTGCAAGACGGCGTCGGGCCACATCAAGCGGCCGATGAACGCGTTCATGGTATGGTCCAAGATCGAACGCAGGAAGATCATGGAGCAGTCTCCGGACATGCACAACGCCGAGATCTCCAAGAGGCTGGGCAAGCGCTGGAAAATGCTGAAGGACAGCGAGAAGATCCCGTTCATCCGGGAGGCGGAGCGGCTGCGGCTCAAGCACATGGCCGACTACCCCGACTACAAGTCCCGGCCCCGGAAAAAGCCCAAAATGGACCCCTCGGCCAAGCCCAGCGCCAGCCAGAGCCCAGAGAAGAGCGCGGCCGGCGGCGGCGGCGGGAGCGCGGGCGGAGGCGCGGGCGGTGCCAAGACCTCCAAGGGCTCCAGCAAGAAATGCGGCAAGCTCAAGGCCCCCGCGGCCGCGGGCGCCAAGGCGGGCGCGGGCAAGGCGGCCCAGTCCGGGGACTACGGGGGCGCGGGCGACGACTACGTGCTGGGCAGCCTGCGCGTGAGCGGCTCGGGCGGCGGCGGCGCGGGCAAGACGGTCAAGTGCGTGTTTCTGGATGAGGACGACGACGACGACGACGACGACGACGAGCTGCAGCTGCAGATCAAACAGGAGCCGGACGAGGAGGACGAGGAACCACCGCACCAGCAGCTCCTGCAGCCGCCGGGGCAGCAGCCGTCGCAGCTGCTGAGACGCTACAACGTCGCCAAAGTGCCCGCCAGCCCTACGCTGAGCAGCTCGGCGGAGTCCCCCGAGGGAGCGAGCCTCTACGACGAGGTGCGGGCCGGCGCGACCTCGGGCGCCGGGGGCGGCAGCCGCCTCTACTACAGCTTCAAGAACATCACCAAGCAGCACCCGCCGCCGCTCGCGCAGCCCGCGCTGTCGCCCGCGTCCTCGCGCTCGGTGTCCACCTCCTCGTCCAGCAGCAGCGGCAGCAGCAGCGGCAGCAGCGGCGAGGACGCCGACGACCTGATGTTCGACCTGAGCTTGAATTTCTCTCAAAGCGCGCACAGCGCCAGCGAGCAGCAGCTGGGGGGCGGCGCGGCGGCCGGGAACCTGTCCCTGTCGCTGGTGGATAAGGATTTGGATTCGTTCAGCGAGGGCAGCCTGGGCTCCCACTTCGAGTTCCCCGACTACTGCACGCCGGAGCTGAGCGAGATGATCGCGGGGGACTGGCTGGAGGCGAACTTCTCCGACCTGGTGTTCACATATTGAAAGGCGCCCGCTGCTCGCTCTTTCTCTCGGAGGGTGCAGAGCTGGGTTCCTTGGGAGGAAGTTGTAGTGGTGATGATGATGATGATAATGATGATGATGATGGTGGTGTTGATGGTGGCGGTGGTAGGGTGGAGGGGAGAGAAGAAGATGCTGATGATATTGATAAGATGTCGTGACGCAAAGAAATTGGAAAACATGATGAAAATTTTGGTGGAGTTAAAGTGAAATGAGTAGTTTTTAAACATTTTTCCTGTCCTTTTTTTGTCCCCCCTCCCTTCCTTTATCGTGTCTCAAGGTAGTTGCATACCTAGTCTGGAGTTGTGATTATTTTCCCAAAAAATGTGTTTTTGTAATTACTATTTCTTTTTCCTGAAATTCGTGATTGCAACAAAGGCAGAGGGGGCGGGGCGGGGGAGGGGAGGTAGGACCCGCTCCGGAAGGCGCTGTTTGAAGCTTGTCGGTCTTTGAAGTCTGGAAGACGTCTGCAGAGGACCCTTTTGGCAGCACAACTGTTACTCTAGGGAGTTGGTGGAGATATTTTTTTTTCTTAAGAGAACTTAAAGAACTGGTGATTTTTTTTTAACAAAAAAAGGGACCATTGCAACTTTTGTTAATTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGAGGGAGAAAACTGATGTCTTCTATGCATCCGATTCTTAACAAAACTGCAGGGAGCTTGAAAAAATGCAGACTGTACAAACGCTTACAAAAAAAAAAACTGTGAACTGACTTAAGATCAGAGTTTACTTTTCAGATCAAATTGTTTATGGTTTTACAAATGTGATTTCTACTTGCCAACTTTTTTTTTGTAACTTGTTCCCTTATACCTCCTTGATTGAATACCAGACAGCCTAGACCTCAGTACAAAAGGTATTGAAACATTTTTGATACATAACAGACCTCAGTCTTTTTTAAAAATTAATATATTTTCAGGCGTATTTTTGTACAGTGAAAAGGGAACATTCTTGCTGTGTTTTTTCAGTAAGACTTTCAGGCACTTCTTCCCTTTTGATTTCTTTTTTTTCCTCTGTTTTTTAGCATG
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Task1_train_3114
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A variant affecting Chromosome 2, within the gene CPSF3 (cleavage and polyadenylation specific factor 3), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; not specified
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ACTTGAACCTGAGAGGTTGAGGCTGCCATGAGCCATGATCATACCACTACCCTCAAGGCTAGTCGACAGCCTGGGTGTAAAACACAAACAAAAACAAACAATAATAGCATAATATGACTATACTTTTTTTTTAAGTGTTCAAAATCGGTTAACTCTTGGCAATTCTCTTTTGTAATTAGCACTCAATAAATCTGTTTGAAATATTAATAATACATTTTTAAAACCATCACAGAATTTTTTCTAGTACACTTTTCTAATACATTTAAATAAAAATGTATTATTTAGTGTCTTATTATGGTAGTAAGTTATAGACTTCAGTGTAAACTTATACTGAGTCATGTTTAAAAGCCTCCACATCTTTGGACTATGATCATAGCATTCTTTTTAGGTCATGCACTATTTAGAAATAAGTTTTGGTTTTGTAAATTTAAGTTAGTTACAACCAGGATAATTTTGCTTAAACTCTTTAAAATATAGTTGTGTGCTTTATTTCTTGGTTGTATGTGTATCATTTCTTGTTCTGTGTGTATCATTTGTTATTTGAACTGTTTACCCCATCTAACAAAGTGATGTTTGTTTCTTGCAAAATCTCTCTAGATGAGTACTGGCAGAATCACCCAGAACTACATGACATTCCAATATACTATGCATCATCTTTGGCCAAGAAGTGTATGGCAGTGTACCAGACATATGTAAATGCCATGAATGACAAAATCCGCAAACAGATCAACATCAATAATCCCTTTGTTTTCAAACACATTAGTAACCTCAAGGTGAGTGCTTGTGGAAGAAAGACAAGGATGGATAAAACCAAATCAGTCATTAGTAGTAGGAGGTACGAGGCCGTGAGTGATGGCTCACAGCTGTAATTTAGCACTTTGGGAGTCTAAGGCAGGAGGATCACTAGAACTCAGGAGTTTGAGACCGGCCTGGGCAAGATAGTGAGACCCTGTCTCTATCAAAATAAAATAAAAATCGTAGGCAGTGCTTGTCAGTGACTCTGGCTGAATTCCTCTTGCTGGAGTCTTACCGCTTCTCAACAGGTGTCGTTTTTCTGCAGAAAATCAAAACTTCAGCAGCTGACATTCTTTTTCTGCTTCAACAGATTTTGCCACTTGCCCCAAGTAGCCATGTGTTCTCAGTATTTATAATACTCATCTCTTTTGCCGTAGGCATAAAAAGTTCTGAGGAGAAAAATATTTTGTATTATGTATTTAAGTTTCTCTTCTCACTCAAACCAAATCATCTTTTTGATTAGTGCTGCAAATTCTATATATGAAAATTTTTATATACTTTTCTGGAAGCATTCAATAAAATCTGATTTTATTTAATTTAAAAAATACTGTTTAACTCGATGCTTGAATCATAATAAAATAATTGATATCCGAAATAATTTAAAAGTGGACTTCCAGTTGTAAATAGGCTTTGTTCATAAAGTATTTATTTTAAGTTAACTGCTTAAGGATTGTAGACAAGTTCTCCCTAGAACAATGTTAAACCTTTTGATTTCCAGGCCAGCTCAAAACATGCATGGAGCATGCAAAGCTATTGTGAGTCTTTGGGAATATTTTTTCAGAGTTGTGTCTTGGGTAGATCAAGACCCATTTGACTCTTCCTTTTACTTTTCTGCCTGCCTGCTAGGCGCTGAAGATGGTCCTGATGGTTCTGATGGCCCTCTAGCTACCAACAGAAGGTTTTGAAGATCGGGGTGAACTTACCGCTTTTTATTACTTGGTTTTTCTACCATTCCTAGCCTAAACTGTTTAGGAATTTGGCAACTGAACTTAAAATGTTTACAGATCTTGTGAAGGCTCTTTCAGTGATGTGATTAATCTCTTAGCCTTTTGTTATTCTTTAAAAAGAAAGAATGCTTTGTCAGCTGCTGGTAGCTAACATACTTTTCCCATTCTGTTTTCTCTCTTAGAGCATGGATCATTTTGATGACATTGGTCCCAGTGTTGTAATGGCCTCCCCAGGCATGATGCAAAGTGGCTTATCCAGAGAATTATTTGAAAGCTGGTGTACTGATAAGAGGAATGGTGTCATTATAGCGGGATACTGTGTAGAAGGGACACTTGCCAAGGTCAGTTACAGTCATAGGCTGTTGTGTTATTCCTATTCAGAATCACGGAGGTGGCACGGTCCTCACAGGTTTTTGCACTGAAGTAGTTCTTCAAATAATACAAGTTTTGATTTTTAAAAATGAGGACGGGAATAGGTAGCTAGAGATGTGCGTAGGATGTAGAATTATGCAGACACTGAATGGCATAATGAGGTCCCAGGTGATTGATATACACATTAAAGTTTGAGAAATGCTCATCTGGTTGCAAGTAGAGAAGAATGGACAGGAACCTGTTTGAGACAAACACGTGAATACTCTCCGTCCTCTCATGAAGAAGAGGTTGACTAATACATATGATCTTAAAAAGCTGTAGAATGTGTTTGGGTTGACCACTTTCTACTATTATGAAACATTGATTTTCAGCTCTTAGGGATGTAGAAATTGTAGAAAATATATGCAGAACTTGGGAGGCAGTTTCTGAGCATCCAGGCATCACATTCTCATCCTCTATTTTATTTTTAAAAATATGATATGATTCTTTGATAATCTTTATTACTTTACCTTATTCTATAAAGTTCTTTAGTGACAATGTTGTATTTAAAATAGATTTCCAGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGTACTTTGGGAGGCCAAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCGTATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGGAGAATTGCTTGAAACTGGAGGCGGAGGTTGCAGTCAGCCGAGATTGGCGCCACTGCACTCCAATCTGGGTGACGGAGCAAGACTCCATCTCCAAAAAAAAAAGAAAAAAAAAATTTCCAGGCCTGGCACAGTGCCTCACATCTGTAATCCTAGCACTTCAGGAGGCCACAGCAGGTGGATCACTTGAGCTCAGGAGTTGGGGACCAGCTTGGGCAACATGGAGAAATCCCATCTCTACAAAAAATACAAAAATTAGCCAGGTGTGGTGGCACGTGCCTGTAGTCCTAGCTAGTTGGGGGACTGAGGCAGGAGGCTTGCTTGAACCCAGGAGGTCGAGGCTGCAGTGAGCTGAGATCGCACACTGCATTTCAGCCTGGGTGACAAAGTGAGACCCTATTTGAAAAAACAAAGATTTTCAGAATAGAAATATATCCACATATCTAGGAAATGACTTTGGAGAGCACAAGAATAGTTGGGAATACAGGTTTGTCTTTCTAAGCATAAGAGTTATGATTCTCACTGCCAGCACTCCAGATAGATGAGTTTTAGTTAATTTGTTTACTTTTCTCATTAAATGTTTGCTTGATTGAGAACATGAGTATTTGATATTTACTGAGTCAGTTATATTAGAATGATTTTGTGCGTAAGGTCCTAAATTTAACATGAATTTATGACTGCATGAAAAAAATGAAAATGTACCTTTACGATTATAACTGGGTAGTTTGTTTTGTTATTTTTCTTTATTTTCCACAGCACATCATGTCTGAACCTGAAGAAATCACTACTATGTCTGGACAGAAGTTACCACTGAAAATGTCTGTTGATTACATTTCTTTCTCAGCTCACACGGATTACCAGCAAACCAGTGAATTTATTCGTGCTTTGAAACCGCCTCATGTGGTTAGTCTATGAATTTCATTTATTGTATTAAAGGGAAAAAAAGTGCATACCCAGGAAACTGTGCAGCAGGCAGTTCACAAAGCAGGCATCATCACCTACTAATGCGACACCCCCTGAGCAGAGCCTTTCACATGCACTCGGATTTGGCCTTTACAACTCCCCTTTGATTTCAGCAAGCTGCCCCCTTTCTCCAGAACTGACTGACTCAGACCTACCAACCCCAATCCTAATGTTTTTCTGTTATTTTCTGCTGCCTCTCCAATAATTTAAGAGCCAGGCTTGGAGTATGACTGCTCATTTGGAATGCCAGCTCCATCTCTTACTTACT
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ACTTGAACCTGAGAGGTTGAGGCTGCCATGAGCCATGATCATACCACTACCCTCAAGGCTAGTCGACAGCCTGGGTGTAAAACACAAACAAAAACAAACAATAATAGCATAATATGACTATACTTTTTTTTTAAGTGTTCAAAATCGGTTAACTCTTGGCAATTCTCTTTTGTAATTAGCACTCAATAAATCTGTTTGAAATATTAATAATACATTTTTAAAACCATCACAGAATTTTTTCTAGTACACTTTTCTAATACATTTAAATAAAAATGTATTATTTAGTGTCTTATTATGGTAGTAAGTTATAGACTTCAGTGTAAACTTATACTGAGTCATGTTTAAAAGCCTCCACATCTTTGGACTATGATCATAGCATTCTTTTTAGGTCATGCACTATTTAGAAATAAGTTTTGGTTTTGTAAATTTAAGTTAGTTACAACCAGGATAATTTTGCTTAAACTCTTTAAAATATAGTTGTGTGCTTTATTTCTTGGTTGTATGTGTATCATTTCTTGTTCTGTGTGTATCATTTGTTATTTGAACTGTTTACCCCATCTAACAAAGTGATGTTTGTTTCTTGCAAAATCTCTCTAGATGAGTACTGGCAGAATCACCCAGAACTACATGACATTCCAATATACTATGCATCATCTTTGGCCAAGAAGTGTATGGCAGTGTACCAGACATATGTAAATGCCATGAATGACAAAATCCGCAAACAGATCAACATCAATAATCCCTTTGTTTTCAAACACATTAGTAACCTCAAGGTGAGTGCTTGTGGAAGAAAGACAAGGATGGATAAAACCAAATCAGTCATTAGTAGTAGGAGGTACGAGGCCGTGAGTGATGGCTCACAGCTGTAATTTAGCACTTTGGGAGTCTAAGGCAGGAGGATCACTAGAACTCAGGAGTTTGAGACCGGCCTGGGCAAGATAGTGAGACCCTGTCTCTATCAAAATAAAATAAAAATCGTAGGCAGTGCTTGTCAGTGACTCTGGCTGAATTCCTCTTGCTGGAGTCTTACCGCTTCTCAACAGGTGTCGTTTTTCTGCAGAAAATCAAAACTTCAGCAGCTGACATTCTTTTTCTGCTTCAACAGATTTTGCCACTTGCCCCAAGTAGCCATGTGTTCTCAGTATTTATAATACTCATCTCTTTTGCCGTAGGCATAAAAAGTTCTGAGGAGAAAAATATTTTGTATTATGTATTTAAGTTTCTCTTCTCACTCAAACCAAATCATCTTTTTGATTAGTGCTGCAAATTCTATATATGAAAATTTTTATATACTTTTCTGGAAGCATTCAATAAAATCTGATTTTATTTAATTTAAAAAATACTGTTTAACTCGATGCTTGAATCATAATAAAATAATTGATATCCGAAATAATTTAAAAGTGGACTTCCAGTTGTAAATAGGCTTTGTTCATAAAGTATTTATTTTAAGTTAACTGCTTAAGGATTGTAGACAAGTTCTCCCTAGAACAATGTTAAACCTTTTGATTTCCAGGCCAGCTCAAAACATGCATGGAGCATGCAAAGCTATTGTGAGTCTTTGGGAATATTTTTTCAGAGTTGTGTCTTGGGTAGATCAAGACCCATTTGACTCTTCCTTTTACTTTTCTGCCTGCCTGCTAGGCGCTGAAGATGGTCCTGATGGTTCTGATGGCCCTCTAGCTACCAACAGAAGGTTTTGAAGATCGGGGTGAACTTACCGCTTTTTATTACTTGGTTTTTCTACCATTCCTAGCCTAAACTGTTTAGGAATTTGGCAACTGAACTTAAAATGTTTACAGATCTTGTGAAGGCTCTTTCAGTGATGTGATTAATCTCTTAGCCTTTTGTTATTCTTTAAAAAGAAAGAATGCTTTGTCAGCTGCTGGTAGCTAACATACTTTTCCCATTCTGTTTTCTCTCTTAGAGCATGGATCATTTTGATGACATTGGTCCCAGTGTTGTAATGGCCTCCCCAGGCATGATGCAAAGTGGCTTATCCAGAGAATTATTTGAAAGCTGGTGTACTGATAAGAGGAATGGTGTCATTACAGCGGGATACTGTGTAGAAGGGACACTTGCCAAGGTCAGTTACAGTCATAGGCTGTTGTGTTATTCCTATTCAGAATCACGGAGGTGGCACGGTCCTCACAGGTTTTTGCACTGAAGTAGTTCTTCAAATAATACAAGTTTTGATTTTTAAAAATGAGGACGGGAATAGGTAGCTAGAGATGTGCGTAGGATGTAGAATTATGCAGACACTGAATGGCATAATGAGGTCCCAGGTGATTGATATACACATTAAAGTTTGAGAAATGCTCATCTGGTTGCAAGTAGAGAAGAATGGACAGGAACCTGTTTGAGACAAACACGTGAATACTCTCCGTCCTCTCATGAAGAAGAGGTTGACTAATACATATGATCTTAAAAAGCTGTAGAATGTGTTTGGGTTGACCACTTTCTACTATTATGAAACATTGATTTTCAGCTCTTAGGGATGTAGAAATTGTAGAAAATATATGCAGAACTTGGGAGGCAGTTTCTGAGCATCCAGGCATCACATTCTCATCCTCTATTTTATTTTTAAAAATATGATATGATTCTTTGATAATCTTTATTACTTTACCTTATTCTATAAAGTTCTTTAGTGACAATGTTGTATTTAAAATAGATTTCCAGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGTACTTTGGGAGGCCAAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCGTATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGGAGAATTGCTTGAAACTGGAGGCGGAGGTTGCAGTCAGCCGAGATTGGCGCCACTGCACTCCAATCTGGGTGACGGAGCAAGACTCCATCTCCAAAAAAAAAAGAAAAAAAAAATTTCCAGGCCTGGCACAGTGCCTCACATCTGTAATCCTAGCACTTCAGGAGGCCACAGCAGGTGGATCACTTGAGCTCAGGAGTTGGGGACCAGCTTGGGCAACATGGAGAAATCCCATCTCTACAAAAAATACAAAAATTAGCCAGGTGTGGTGGCACGTGCCTGTAGTCCTAGCTAGTTGGGGGACTGAGGCAGGAGGCTTGCTTGAACCCAGGAGGTCGAGGCTGCAGTGAGCTGAGATCGCACACTGCATTTCAGCCTGGGTGACAAAGTGAGACCCTATTTGAAAAAACAAAGATTTTCAGAATAGAAATATATCCACATATCTAGGAAATGACTTTGGAGAGCACAAGAATAGTTGGGAATACAGGTTTGTCTTTCTAAGCATAAGAGTTATGATTCTCACTGCCAGCACTCCAGATAGATGAGTTTTAGTTAATTTGTTTACTTTTCTCATTAAATGTTTGCTTGATTGAGAACATGAGTATTTGATATTTACTGAGTCAGTTATATTAGAATGATTTTGTGCGTAAGGTCCTAAATTTAACATGAATTTATGACTGCATGAAAAAAATGAAAATGTACCTTTACGATTATAACTGGGTAGTTTGTTTTGTTATTTTTCTTTATTTTCCACAGCACATCATGTCTGAACCTGAAGAAATCACTACTATGTCTGGACAGAAGTTACCACTGAAAATGTCTGTTGATTACATTTCTTTCTCAGCTCACACGGATTACCAGCAAACCAGTGAATTTATTCGTGCTTTGAAACCGCCTCATGTGGTTAGTCTATGAATTTCATTTATTGTATTAAAGGGAAAAAAAGTGCATACCCAGGAAACTGTGCAGCAGGCAGTTCACAAAGCAGGCATCATCACCTACTAATGCGACACCCCCTGAGCAGAGCCTTTCACATGCACTCGGATTTGGCCTTTACAACTCCCCTTTGATTTCAGCAAGCTGCCCCCTTTCTCCAGAACTGACTGACTCAGACCTACCAACCCCAATCCTAATGTTTTTCTGTTATTTTCTGCTGCCTCTCCAATAATTTAAGAGCCAGGCTTGGAGTATGACTGCTCATTTGGAATGCCAGCTCCATCTCTTACTTACT
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Task1_train_3115
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The gene CPSF3 (cleavage and polyadenylation specific factor 3), on Chromosome 2, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Neurodevelopmental disorder with hypotonia, microcephaly, and seizures
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TGGAGGAAAAAAAGAAATTAGCAAAACTTAGGGTATGAGGTTTTTGTTGTAAATAGTCGTAGTTACTCCTGAGTCTTACTGTCCACAAAACTTTTCAGGGGCCGATTTAATAGTATTTTTCTTATACCTGTAGAAAAATATACTCAGTTGAGAATCTAGAACTGTATTTCACATACTCTGCTGGTGGTGGATATGTGGGGAGAAAAAAAAAGTTTTGCAGTCAGACAGTTTAGAAGATGAATTGAACTGAGTTCAGGAAAAGTTGGGTTTCTTATCGGAGTGTTCTGTTTCTCACCCATAATTTTAATGATTTAAAATCATTACCTTTAGTTATTTTTCTCTCTCAAGTACATCACTGTATTAAAATTAGTCTCCTAGGAGCAAAGGTTCTTTTCTGAAAGCTACCTACAATTAAGGAGAAAATAACCCTAGGAAATACTGTGAAATACAACCCTCTGTGTTTATAATTATGAGAACAAATATAGCACTGCCTGGTTGCTGTTTGCCCTTACTTGCTTAAAGGCAAACAAGTATGGAACACACTACCTTTATTCCTTTGAGCTCATTTATTTGCAGTTGAGAGAAGTTATATTTAAGAATACTGGGTTTCAGCCAGGCTTGGTGGCTCTCGCCTGTAATCCCAGCACCTTGGGAGGCCATAGCAGGCAGATCCCTTAAGCTCAGGAATTGAAGATCAGCATGGGCAACATAGTGAAACTCCATCTCTACAAAAAATACAAAAATAAGCCAGGCATGGTGGCGCACATGGTGAGCGATGATCGCACCACTGCATTCCAGCCTGGGTGACAGAGCAAGACTGTCTCAGAAAAATAAATAAATGAAACTTTTTTTTTTTTTTTTTTTGAGAAAAAGTCTCGCTCTGTCTCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGGCCAGCTAGTTTTTTGTATTTTTAGTAGAGACGGGGTTTCATTATATTGGCCAGGATGGTCTCAATCTCGTGACCTCATGATCCGCCTGCCTTGGCCTCCCAAAATGCTGGGATTATGGGCGTGAGCCACCATGCCCGGCCATAAATGAAACTTTTTAAAAATGAATAGTGGGGCTGGGTGTCATGGCTCACGCATGTAATTCCAACACTTTGGGAGGCCGAGGTGGGCAGATCATCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATGTGGTGAAGCCCCATTTCTACTAAAAATAGAAAAATTAGCCGGGCATGGTGGTAGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATTGTGCCATTGCACTCCAGCCTGGCGACAGTGAGACACTGTCTCAAAAAAAAAAAAAAAAAAGAATAGTGGGTTTCACGTTTGTAGTATTTTTGTTTTTAAATGGTTGTTATTTTATTCTCTTAAAAATGTTTCTCCCTCAATGTATGAGCTCACCCATAACCTGTTTTTATTGACCTTTTTATTCAAAGCCGCTGCTGCTGCTTTTAGTGTTAGGTGTACCACAGCCTCCCAGGTTTGTATCAGTGGGCCTCACTCTCTGTTATGAGTTTGCAGCCAGCCTGAGGGAGTGCATGTGTGCGTTTCACGGGGACTTCCCGGCCTTCCCTACTGCAGTGCAGCTAGTGAGAGCTTTCTTAAGCCCCGGCACCTAGTAAGTTACTTGCTTGTTGAACTGATTAGAACTGAACTGTGCCAGATCTGCCACTGTGACTCTTCCCTTTGACATTGGTAGCAATGCAACTGCCCTCATCATAGAGATATCAAACATTTTATGTTTTTCGTGGTTAAATCCATATGTTGTTTTCATAGTTCAAAGGTGTTATGGTCTTCATTATGATGAACTGCATTTTATTACCTGAAAAACTGCATTTTACCAGGTTCTATTTTCTTCAAGTATTTTTTTTTTACAGGTTATGGGATTTTTAGCAGACAAAAAACCAGAACAAGGCCAGCGGGTCTCAGGAATACTTGTTAAAAGAAACTTTAATTATCACATACTTTCTCCTTGCGACCTGTCCAGTAAGTATACTATTAAATGTCAAATCCAACTTCACCTTAGCACTGAAAGAAAATCTATGAAAACTTCTCTTCACCTTGTGGCCTAATGTTATGTAATAGACAAATAATAAAAAAGGAATGAGGCAAGTTAGCTAATTAGCTTTGTGGGGAGAGAAAAACACCTCCCATGAACTACTGAAAGATTGAAATTATTGGTGAAATCACTTTCTTCATCTTTGGAAACATAAGTTCATTTCTGAGTTCACCTTGTTTTCTACCCTCTACAACAGACTTGTGGGCTTTTATTTTCTGAAGTGACTTTGGATTCCCCAGAGAAGCCGTTTGGTTTTTATGACCTTTGCATAAGCATTTCAGTTTTTTATGACCTTTACATCACTTGCAGGGCCTTTGTATTCCTTCACCATTCCAAAAGGAGTAGGAACAAAAACTTGTATAATTTCTTTAAAAGCAAAAAAGTATTAATGTAAAGCCTAATTTTTTCATTACATTGAAACTTTCAACATCCAAATAAGTAACACCAACTATATAACTGATGCCTCTAATGTGTGTGTATACATTGAAGCTCATTATAGAGAAAAATGAAAAATTGGGCAGGGTGCAGTAGCTCACGCCTGTAATCCCAGCACTTTGAGAAGCCGAGGCAGGTGGATCACGAGGTCAAGAGATCGAGACCATCCTGACCAACATGGTGAATCCCCGTCTCTACTAAAAATACAAAAATTAGCTGTATGTGGTGGCACGTGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAAAGTGGGAGGTGGAGGTTGCAGTGAGCTGAGATAATGCCACTGCATTCCAGCCTAGTGACACAGCAAGACTCCATCTCAAAAAAAAGGAAAAATTGCACAAAACTAATAAGATTACATTTAAGTTTGTAAATTGCTTTTTTCCCATAGTTGATACACATTTCCATATGCATTCTTTGTCTTTATAAATTTACTGAGCCATCAATAAGTCATTTTCCAATGAATATGGTATTATTTTCGAGTAAATACTATGCTCAAGGTGATTTACATGGTACTAATACATTATATGTGCTTTATGCAGGAATAAAAAATAGCAGTGGCCCGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCGAGGTGGGCAGATCACAAGGTCAGGAGTTCGAGACCATCCTGGCCAACGTGGTAAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCATGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGTGGCAAGAGAGTTGCTTGAATGCAGGAGGCAGAGGTTACAGTGAGCCGAGATCACGCCATTGCACTCCAACCCGGGCAACAGTGCGAGACTCTGTCTCAAAAAAGAAAGAAAGAAATAGCAGCAGTGGTGAGGTATTTACCTGTGAGATTGCCCTGCTGTCAGTTTTCATAGCATCATAGGTCACTGTCTGACTTGTGCCTTCATTCTGAGTTAGTGAGCTCTTATACTCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCTCCCAGGCTGGAGTGCAGTGGCGTGCCGTCTCTGCTTACTGCAAGCTCCACCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTAGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCGGGCCCGAGCTCTTACTCTTATGCCACATAGTCCCAGCCCTTGAAATCTGTCTAATGAGGGAAGCAGTCTTGGGAAGAGCTAATCCCAGTATTGCTCAGTGGCATATAGAAGCTCATGATACATATGTG
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TGGAGGAAAAAAAGAAATTAGCAAAACTTAGGGTATGAGGTTTTTGTTGTAAATAGTCGTAGTTACTCCTGAGTCTTACTGTCCACAAAACTTTTCAGGGGCCGATTTAATAGTATTTTTCTTATACCTGTAGAAAAATATACTCAGTTGAGAATCTAGAACTGTATTTCACATACTCTGCTGGTGGTGGATATGTGGGGAGAAAAAAAAAGTTTTGCAGTCAGACAGTTTAGAAGATGAATTGAACTGAGTTCAGGAAAAGTTGGGTTTCTTATCGGAGTGTTCTGTTTCTCACCCATAATTTTAATGATTTAAAATCATTACCTTTAGTTATTTTTCTCTCTCAAGTACATCACTGTATTAAAATTAGTCTCCTAGGAGCAAAGGTTCTTTTCTGAAAGCTACCTACAATTAAGGAGAAAATAACCCTAGGAAATACTGTGAAATACAACCCTCTGTGTTTATAATTATGAGAACAAATATAGCACTGCCTGGTTGCTGTTTGCCCTTACTTGCTTAAAGGCAAACAAGTATGGAACACACTACCTTTATTCCTTTGAGCTCATTTATTTGCAGTTGAGAGAAGTTATATTTAAGAATACTGGGTTTCAGCCAGGCTTGGTGGCTCTCGCCTGTAATCCCAGCACCTTGGGAGGCCATAGCAGGCAGATCCCTTAAGCTCAGGAATTGAAGATCAGCATGGGCAACATAGTGAAACTCCATCTCTACAAAAAATACAAAAATAAGCCAGGCATGGTGGCGCACATGGTGAGCGATGATCGCACCACTGCATTCCAGCCTGGGTGACAGAGCAAGACTGTCTCAGAAAAATAAATAAATGAAACTTTTTTTTTTTTTTTTTTTGAGAAAAAGTCTCGCTCTGTCTCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGGCCAGCTAGTTTTTTGTATTTTTAGTAGAGACGGGGTTTCATTATATTGGCCAGGATGGTCTCAATCTCGTGACCTCATGATCCGCCTGCCTTGGCCTCCCAAAATGCTGGGATTATGGGCGTGAGCCACCATGCCCGGCCATAAATGAAACTTTTTAAAAATGAATAGTGGGGCTGGGTGTCATGGCTCACGCATGTAATTCCAACACTTTGGGAGGCCGAGGTGGGCAGATCATCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATGTGGTGAAGCCCCATTTCTACTAAAAATAGAAAAATTAGCCGGGCATGGTGGTAGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATTGTGCCATTGCACTCCAGCCTGGCGACAGTGAGACACTGTCTCAAAAAAAAAAAAAAAAAAGAATAGTGGGTTTCACGTTTGTAGTATTTTTGTTTTTAAATGGTTGTTATTTTATTCTCTTAAAAATGTTTCTCCCTCAATGTATGAGCTCACCCATAACCTGTTTTTATTGACCTTTTTATTCAAAGCCGCTGCTGCTGCTTTTAGTGTTAGGTGTACCACAGCCTCCCAGGTTTGTATCAGTGGGCCTCACTCTCTGTTATGAGTTTGCAGCCAGCCTGAGGGAGTGCATGTGTGCGTTTCACGGGGACTTCCCGGCCTTCCCTACTGCAGTGCAGCTAGTGAGAGCTTTCTTAAGCCCCGGCACCTAGTAAGTTACTTGCTTGTTGAACTGATTAGAACTGAACTGTGCCAGATCTGCCACTGTGACTCTTCCCTTTGACATTGGTAGCAATGCAACTGCCCTCATCATAGAGATATCAAACATTTTATGTTTTTCGTGGTTAAATCCATATGTTGTTTTCATAGTTCAAAGGTGTTATGGTCTTCATTATGATGAACTGCATTTTATTACCTGAAAAACTGCATTTTACCAGGTTCTATTTTCTTCAAGTATTTTTTTTTTACAGGTTATGGAATTTTTAGCAGACAAAAAACCAGAACAAGGCCAGCGGGTCTCAGGAATACTTGTTAAAAGAAACTTTAATTATCACATACTTTCTCCTTGCGACCTGTCCAGTAAGTATACTATTAAATGTCAAATCCAACTTCACCTTAGCACTGAAAGAAAATCTATGAAAACTTCTCTTCACCTTGTGGCCTAATGTTATGTAATAGACAAATAATAAAAAAGGAATGAGGCAAGTTAGCTAATTAGCTTTGTGGGGAGAGAAAAACACCTCCCATGAACTACTGAAAGATTGAAATTATTGGTGAAATCACTTTCTTCATCTTTGGAAACATAAGTTCATTTCTGAGTTCACCTTGTTTTCTACCCTCTACAACAGACTTGTGGGCTTTTATTTTCTGAAGTGACTTTGGATTCCCCAGAGAAGCCGTTTGGTTTTTATGACCTTTGCATAAGCATTTCAGTTTTTTATGACCTTTACATCACTTGCAGGGCCTTTGTATTCCTTCACCATTCCAAAAGGAGTAGGAACAAAAACTTGTATAATTTCTTTAAAAGCAAAAAAGTATTAATGTAAAGCCTAATTTTTTCATTACATTGAAACTTTCAACATCCAAATAAGTAACACCAACTATATAACTGATGCCTCTAATGTGTGTGTATACATTGAAGCTCATTATAGAGAAAAATGAAAAATTGGGCAGGGTGCAGTAGCTCACGCCTGTAATCCCAGCACTTTGAGAAGCCGAGGCAGGTGGATCACGAGGTCAAGAGATCGAGACCATCCTGACCAACATGGTGAATCCCCGTCTCTACTAAAAATACAAAAATTAGCTGTATGTGGTGGCACGTGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAAAGTGGGAGGTGGAGGTTGCAGTGAGCTGAGATAATGCCACTGCATTCCAGCCTAGTGACACAGCAAGACTCCATCTCAAAAAAAAGGAAAAATTGCACAAAACTAATAAGATTACATTTAAGTTTGTAAATTGCTTTTTTCCCATAGTTGATACACATTTCCATATGCATTCTTTGTCTTTATAAATTTACTGAGCCATCAATAAGTCATTTTCCAATGAATATGGTATTATTTTCGAGTAAATACTATGCTCAAGGTGATTTACATGGTACTAATACATTATATGTGCTTTATGCAGGAATAAAAAATAGCAGTGGCCCGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCGAGGTGGGCAGATCACAAGGTCAGGAGTTCGAGACCATCCTGGCCAACGTGGTAAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCATGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGTGGCAAGAGAGTTGCTTGAATGCAGGAGGCAGAGGTTACAGTGAGCCGAGATCACGCCATTGCACTCCAACCCGGGCAACAGTGCGAGACTCTGTCTCAAAAAAGAAAGAAAGAAATAGCAGCAGTGGTGAGGTATTTACCTGTGAGATTGCCCTGCTGTCAGTTTTCATAGCATCATAGGTCACTGTCTGACTTGTGCCTTCATTCTGAGTTAGTGAGCTCTTATACTCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCTCCCAGGCTGGAGTGCAGTGGCGTGCCGTCTCTGCTTACTGCAAGCTCCACCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTAGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCGGGCCCGAGCTCTTACTCTTATGCCACATAGTCCCAGCCCTTGAAATCTGTCTAATGAGGGAAGCAGTCTTGGGAAGAGCTAATCCCAGTATTGCTCAGTGGCATATAGAAGCTCATGATACATATGTG
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Task1_train_3116
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Given this variant in gene NBAS (NBAS subunit of NRZ tethering complex) on Chromosome 2, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; not provided
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ATATAAGTTTAAAATAATTTTAGATGTGTTTATTTAAAAATAAGTACTTAAAAATTTATAAGTATAGATCACTTTTCCTTGAAGATTGTAATTTTACTCTACTTCTCCTAATTATGAACTGTAGTACTGTAAATGTTAGTAGGATAAAATCAAGATTGGTAAAGCCAATTTGTTTCCTGCAAAGCCTTCTATATTGTTCATACCATTATTTAACATTATTCATTAGACAGAAAAATAGGCATTCCAAAACACAAAATGAATAAAATTTCTTTCAAAATTTTAAGTTCTTCCCATTATCTTTTCAATGGGGGCTTTGCATTTATGTCTTGTACAAATTTTGAAGTCTCCCATTTGCTCATTACCTGAAGTCTCCACTGACTGATCTTTCTAGCCATTCTACAAGGCAAGAATACAATTCAATAAATGTGTAAGGTTTAAGAAAAATAAAAGAGGAGGTTAACGGCCACTTACAAGGTTCATTTACCATAGTATTATAGGGCAAATGGAATATTATTCATATATATAAGCACTGTTTTCACTTACATGGAAATCATTTATTTATTGATTTGTCAACTTTCCAGTTATAGAAAAAATTATCTCAACTCCCACAATTGTTAAAATATAGAACAAAATCTCTAAGGGCCTTAGAGAGCTTCTGGTTTCATTGTATAGTCCTAACACCTGCGTTTTCAAACCTCATCACAGGTAGGGAACCCCAAACTTCATGATGTTGTTTTTGAGACACCAAGGAACTAGAAACCACCTAGAAACAATTTTAGTAGTCAAAAAATTCCTCTCAATAATGAAATTATATTTTATGTTGGAAACATGCAACATAAAAACAGGATAAGGGTATACGTTTAACAAAAATACAGTGTAGACATAAAAGGCTATTTCTGATTTTTTTTCTGAAAATTAGGAGGGAAAAGAAAATCAAAATATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATCTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGGGTGCAGTGGAGCAATCTCAGCTCACCGCAACCTCCGCCTCCCAGGATCAAGCGATTCACCTACCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTTGTGCCACCACACCCGGCTAATGTTTGTATTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGGGGCGTGATCTCAGCTCACTGCAAACTCCGCCTCCCGGGTTCAAGCCATTCCCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCATTGGGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGACTGGTCTCGAACTCCTGACCTTGTGATCTGCCTGCCTTGGCCTCCCTAAGTGCTGGGATTACAGGAGTGAGCCACCGCGCCCAGCCTATTTTTATTTTTATTTGTTAATTCTACCAGCTAGAAGTAAAGTCTGAGCACCACTGTCTTCTCATTTCTTCATTTTAGAGACCTCTCCCCTCACCCCAGGCAGCTATCCATTGTTCAACTCCTGCTACCATCTCCATTTCCACCCTTCTCACCCACTTCCTCTATTTCCCCATATCAACGGTGCCAAGTGGCTTAACATCATTTTGAAAGAAGTGGAAACTGAATTGTCAATCAAGTGATCATGAAGAGGTTAACCAATAAAGGCTTGCGGACAATTTTCAAGGATATCTGCAAGCCTGAAAACCCTGTCAAAACGACTAATGTAACTTTCAAGGAAAAAAGAAAGAATATACTGATACAGAGTGAGCATATAGAAGTTCCCATTTCTTTACCTGCTCACTATTCTTCAGAGAAAGGATGAAGCTGTGGCTCAGGGTTTCCAGGTGGGCAAGTGATTTCTCCAGATGATTCAAAGTATCTGCATAGGTAACTTTAGAATCCTTAGCTTCTTGAGCTTCGTCTTCTGAGTTTCTTTTCCTTGGCTTCTCAATAAAATGTTTGACTGTCTTAATAGCCTTTCTAGTCATCTCTTTACGGGCTTCCACAGACAGCTTAAAAAAAAGAATAGTGAGACCAAAGAACCCTGCATTATTACCTATTGCATATTCAGCAAGTGTTAATGAGTTAGAACAAAAGTGAAATTTTTGTATATATGATTTTAACCAATAAATAGCACTTGTTATACTAGTTTTTCTTCTGTGAAGAAAACAAAAAGTGAGGTGCCATTTGCATCATTAAACTAGTAATTAAGATTTTTAAAAATGTTAATATCCAAAGCAGGTAAAGTGATGAAACTAGTATTCACACTGACTGCCAGTTACAGTGCAAAAATGAGGAGTCATTTCTACAGCCATATTCCCAGTTCTGATCACTTATTATAAGAAAAAAATTCCAAAGAAGAAAATAAATACAGGCATAAAGATTTTAACTGGAATAAGACTATTAATATAACCTCAAAAGTAATCTAATTGATAGAAGAAATGATAACTAGCTTATTTTAAATTACAGGCTGGAATATTATGTAGTCATTAAAATTAGAATTATAAAAACAGTATCCAAACATTTTGGAATATGTTTGTCATAGAATGTTAAAACTTAGAAATCAGAATATAAAACTCTCTAGATAATGTTTACATTAAACTTCAAACTATATCTGCATATACAATATATGTATTTTATGTATTTTCTATTTTATGTGTGTGTGTATGTGTGCATTTATATATTTTCTATTTTATGTGTGTGTGTATGTGTGCGTGTGTGTGTGTGTATATATATATATATATATGTTGAGTATTGCTTATCTGAAATGTTTGGAACCAGAAGTATTTTAGATTTCAGATTTTTTTTGGATTTTGGAATACTTGCTAATTTAGCATCCCTAATTCAAAAGGCTGAAATCCAAAATGCTCCAATAAGCATTTCCTTTGAGCATCATGTTGGCACTAAAAAAGTTTCAGATATTGGAGCATTTCAGATTCCTAGATTCAGGAAATTCAACCTGTACATGCATATAAAGTATATGTATGTATAAAAATATAAGAAATATGTATTCAGACATATGCATATACATATATATATATTATTAAGGTGTTAGGATTATGAGCTATTTTTTTTTCTTTCCTTCTTTCCAAAGATTCGAAACATCGTTTTCACCCATTTATTCAGTGACACGCATCAGATTCCTGTATACTGTGTTAGATATATGGGAGTTATATTTTTCTAATTAATAAAATACTATCCTCAAGAATGTGCAGGAGTTATATTTTTCTAATATTAAAATATTAAGCTCTTAGCCTCAAGAATACAAAACTAAGTCTAAACTTTGTGCTTTGTTGATGGAGGAAGCAGACGCCTCTGAGAGATCCTAGCGCCTTCTCAGGCCTCACTGATTTGTGCTGCTTTGGATCCTGGGCTGTAGTCTTCTGTCAGCTACTCAAGTACATTTTTACTATATCCTCAAAAGGACGTGTTGATTTTTTTGTTTTAATAAAAAGAGATAAAGACTCCTACGACAGACTCTCATTTTTTTTCTACTTCCTAAAAGCAGTCATTGTACATGTCTGGTCATTCTGAAAAGCAGGACTAGGCTGAAATACATGGCATGAGTGACCACACCAGGAGGTAAGCTGCCCCCAGACCCTTCCTTTCCTACTAGCTCCCTCCAAGTCACTCAACAGAGTTATGACTTTAAAATGCTGACAGGACGCCTGTCATCCCAGGACTTTGGGAGGCCAAGATGGATGGATCACGAGGTCAGGTGATCGAGACAATCCGGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAAAAAAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGCGGCAGGAGAATGGCGTGAACCCGGCAGGCGGAGGCTGCAGTGAGCCGAGATCGCACCGCTGCACTCCAGACTGGGAGACAAAGTGAGACTCCGTCTCAAAAAACAAACAAAAAAAATGCTGACAGGGGACATTTTCCTAATCCTATATAAATATTGATAAAAGAGATCTTTAGGAAAGTACTATTTCCAATGAAATTG
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ATATAAGTTTAAAATAATTTTAGATGTGTTTATTTAAAAATAAGTACTTAAAAATTTATAAGTATAGATCACTTTTCCTTGAAGATTGTAATTTTACTCTACTTCTCCTAATTATGAACTGTAGTACTGTAAATGTTAGTAGGATAAAATCAAGATTGGTAAAGCCAATTTGTTTCCTGCAAAGCCTTCTATATTGTTCATACCATTATTTAACATTATTCATTAGACAGAAAAATAGGCATTCCAAAACACAAAATGAATAAAATTTCTTTCAAAATTTTAAGTTCTTCCCATTATCTTTTCAATGGGGGCTTTGCATTTATGTCTTGTACAAATTTTGAAGTCTCCCATTTGCTCATTACCTGAAGTCTCCACTGACTGATCTTTCTAGCCATTCTACAAGGCAAGAATACAATTCAATAAATGTGTAAGGTTTAAGAAAAATAAAAGAGGAGGTTAACGGCCACTTACAAGGTTCATTTACCATAGTATTATAGGGCAAATGGAATATTATTCATATATATAAGCACTGTTTTCACTTACATGGAAATCATTTATTTATTGATTTGTCAACTTTCCAGTTATAGAAAAAATTATCTCAACTCCCACAATTGTTAAAATATAGAACAAAATCTCTAAGGGCCTTAGAGAGCTTCTGGTTTCATTGTATAGTCCTAACACCTGCGTTTTCAAACCTCATCACAGGTAGGGAACCCCAAACTTCATGATGTTGTTTTTGAGACACCAAGGAACTAGAAACCACCTAGAAACAATTTTAGTAGTCAAAAAATTCCTCTCAATAATGAAATTATATTTTATGTTGGAAACATGCAACATAAAAACAGGATAAGGGTATACGTTTAACAAAAATACAGTGTAGACATAAAAGGCTATTTCTGATTTTTTTTCTGAAAATTAGGAGGGAAAAGAAAATCAAAATATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATCTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGGGTGCAGTGGAGCAATCTCAGCTCACCGCAACCTCCGCCTCCCAGGATCAAGCGATTCACCTACCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTTGTGCCACCACACCCGGCTAATGTTTGTATTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGGGGCGTGATCTCAGCTCACTGCAAACTCCGCCTCCCGGGTTCAAGCCATTCCCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCATTGGGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGACTGGTCTCGAACTCCTGACCTTGTGATCTGCCTGCCTTGGCCTCCCTAAGTGCTGGGATTACAGGAGTGAGCCACCGCGCCCAGCCTATTTTTATTTTTATTTGTTAATTCTACCAGCTAGAAGTAAAGTCTGAGCACCACTGTCTTCTCATTTCTTCATTTTAGAGACCTCTCCCCTCACCCCAGGCAGCTATCCATTGTTCAACTCCTGCTACCATCTCCATTTCCACCCTTCTCACCCACTTCCTCTATTTCCCCATATCAACGGTGCCAAGTGGCTTAACATCATTTTGAAAGAAGTGGAAACTGAATTGTCAATCAAGTGATCATGAAGAGGTTAACCAATAAAGGCTTGCGGACAATTTTCAAGGATATCTGCAAGCCTGAAAACCCTGTCAAAACGACTAATGTAACTTTCAAGGAAAAAAGAAAGAATATACTGATACAGAGTGAGCATATAGAAGTTCCCATTTCTTTACCTGCTCACTATTCTTCAGAGAAAGGATGAAGCTGTGGCTCAGGGTTTCCAGGTGGGCAAGTGATTTCTCCAGATGATTCAAAGTATCTGCATAGGTAACTTTAGAATCCTTAGCTTCTTGAGCTTCGTCTTCTGAGTTTCTTTTCCTTGGCTTCTCAATAAAATGTTTGACTGTCTTAATAGCCTTTCTAGTCATCTCTTTATGGGCTTCCACAGACAGCTTAAAAAAAAGAATAGTGAGACCAAAGAACCCTGCATTATTACCTATTGCATATTCAGCAAGTGTTAATGAGTTAGAACAAAAGTGAAATTTTTGTATATATGATTTTAACCAATAAATAGCACTTGTTATACTAGTTTTTCTTCTGTGAAGAAAACAAAAAGTGAGGTGCCATTTGCATCATTAAACTAGTAATTAAGATTTTTAAAAATGTTAATATCCAAAGCAGGTAAAGTGATGAAACTAGTATTCACACTGACTGCCAGTTACAGTGCAAAAATGAGGAGTCATTTCTACAGCCATATTCCCAGTTCTGATCACTTATTATAAGAAAAAAATTCCAAAGAAGAAAATAAATACAGGCATAAAGATTTTAACTGGAATAAGACTATTAATATAACCTCAAAAGTAATCTAATTGATAGAAGAAATGATAACTAGCTTATTTTAAATTACAGGCTGGAATATTATGTAGTCATTAAAATTAGAATTATAAAAACAGTATCCAAACATTTTGGAATATGTTTGTCATAGAATGTTAAAACTTAGAAATCAGAATATAAAACTCTCTAGATAATGTTTACATTAAACTTCAAACTATATCTGCATATACAATATATGTATTTTATGTATTTTCTATTTTATGTGTGTGTGTATGTGTGCATTTATATATTTTCTATTTTATGTGTGTGTGTATGTGTGCGTGTGTGTGTGTGTATATATATATATATATATGTTGAGTATTGCTTATCTGAAATGTTTGGAACCAGAAGTATTTTAGATTTCAGATTTTTTTTGGATTTTGGAATACTTGCTAATTTAGCATCCCTAATTCAAAAGGCTGAAATCCAAAATGCTCCAATAAGCATTTCCTTTGAGCATCATGTTGGCACTAAAAAAGTTTCAGATATTGGAGCATTTCAGATTCCTAGATTCAGGAAATTCAACCTGTACATGCATATAAAGTATATGTATGTATAAAAATATAAGAAATATGTATTCAGACATATGCATATACATATATATATATTATTAAGGTGTTAGGATTATGAGCTATTTTTTTTTCTTTCCTTCTTTCCAAAGATTCGAAACATCGTTTTCACCCATTTATTCAGTGACACGCATCAGATTCCTGTATACTGTGTTAGATATATGGGAGTTATATTTTTCTAATTAATAAAATACTATCCTCAAGAATGTGCAGGAGTTATATTTTTCTAATATTAAAATATTAAGCTCTTAGCCTCAAGAATACAAAACTAAGTCTAAACTTTGTGCTTTGTTGATGGAGGAAGCAGACGCCTCTGAGAGATCCTAGCGCCTTCTCAGGCCTCACTGATTTGTGCTGCTTTGGATCCTGGGCTGTAGTCTTCTGTCAGCTACTCAAGTACATTTTTACTATATCCTCAAAAGGACGTGTTGATTTTTTTGTTTTAATAAAAAGAGATAAAGACTCCTACGACAGACTCTCATTTTTTTTCTACTTCCTAAAAGCAGTCATTGTACATGTCTGGTCATTCTGAAAAGCAGGACTAGGCTGAAATACATGGCATGAGTGACCACACCAGGAGGTAAGCTGCCCCCAGACCCTTCCTTTCCTACTAGCTCCCTCCAAGTCACTCAACAGAGTTATGACTTTAAAATGCTGACAGGACGCCTGTCATCCCAGGACTTTGGGAGGCCAAGATGGATGGATCACGAGGTCAGGTGATCGAGACAATCCGGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAAAAAAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGCGGCAGGAGAATGGCGTGAACCCGGCAGGCGGAGGCTGCAGTGAGCCGAGATCGCACCGCTGCACTCCAGACTGGGAGACAAAGTGAGACTCCGTCTCAAAAAACAAACAAAAAAAATGCTGACAGGGGACATTTTCCTAATCCTATATAAATATTGATAAAAGAGATCTTTAGGAAAGTACTATTTCCAATGAAATTG
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Task1_train_3117
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A variant found in Chromosome 2 affects NBAS (NBAS subunit of NRZ tethering complex). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Infantile liver failure syndrome 2
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GTTTCTACTTACATCTGGTTTGGAATGCTGAAATATCTTCAGGGGAAATTTTAAGTCCCCTTTAGCTAAAGTTACTAAATATTCTTTTAATAGCTCATTAGCCACACCAGGCGACTGTTTCTCACAACGATGAAGAAAGGGAACCATCCACTGGTAGGCACTTGTCACATATTTATCCTCAGAACACTGAAAGTACAATCAAGCAAAACAGACAAACAAGAATGAAGTTAAACTAAATGCCTTATTATATCAGACAGCGAGTTCTAAAGCTTACAGGTCCTCAGACTGATGTTAAACAGTGCAAACCCAACACTCTAAAACACACAGTCCAGTTCACCACTCACATGTGGATTGACAGGTAGCAGGAAAATGAATCACCTGCTACTGGGGCTAGTAGAGCTGACAGCAACAATATCACTATGGCTCATCTCTTTACATCATAAGCAATATGGGGTCCCAAGGAGCCTAAGCTCAGCTCTAGAAAACCAACATGCTGCTACTACAACTCAGTCATGAGGTCATCCAGAGCAAAGAGAAGGCATACGCAAAAACAGAGAGAGAGAGAGAGAGAGAGAGTATAAAAAGAGGCAGAGACACACAGAAAAGGAGACCTTAGACCAACAAAGAGTGAATAAAAAAAGTAGAAAGACAGAGATACACAAATAAGCACAGGTTCTAAAATAGGGGCCTCTAGAAAATAGGGTTTCATCTATAAAAGTCAGGAATCTCTCCCTTCTTTTTCCTCTTCCTCTTTGTTTTGCCCCTTTACAACCACCTTTACAAAATTCCAAATGACAGAGATAGTTTTACTCATTATCCCTAAAATTACACAATCGTTTCTCTTAATTATCCCCCAAAAGATACACCTAAAGCTATTAAGAGGAGTCAACATATAACACAAATTAATTTTAATTAGGTAGATTATCAGGAAAAGAAACTAATGAGATAACGGGAAAGTAAAGACAGAGGGAGAGACAAAAGGAAGATAAGCCAGGAGAGGTGGCTCACGCCTATCATCCCAGCACTTTGGGAGGCCTAGGCAGGTAGATCGCCTGAGGTCAGGAGTTCAAGACCAGTGCCTGGCCAACATGGTGAAACCCTATCTCTATTAAAAATGCAAAAATTAGCCTGGTGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGATGGAGGTTACAGTGAGCCAAGATCACGTCACTGCACTCCAGCCTGGGCCACAGAGTGAGACTCCATCTGAAAAAAAGAAAAAAAAAAAAAAAAGGAAGATAAATATAAGATGGGGGAAAATGTGGAAGGGAAGGAGAGAAAAAGAGTCCAGGGAGGAAAAAGAACCTATCATGCAGTTGTGACTCTGCCCCTTCTTCTGGACCATTCAACCTAAGCTGCCAACAAGCAAAAGACTAGAAAGAGCGTTGGCAGCTACCACCTCCACAGCACCATCCTTCTTGCCTGTTGACTCAGTGGCCGGAGTACAAATAAGGTTCTAATTTTGGGGAGAAAGCACAGAATGATCTAAGAATTACTGGGAAAATTCTCTTAAACATACTAACCCTGAAGCCAAGATGTTTTCTTCAAACAACCACCCGGTCCTCTTAACCCTGATACTTTTTTCCAGTCCTTGAAATACATAAGTAATTGGGAAGTTTAACAAAGTGAAAGGTTAAATACAGGATTACTAGAATCACTAGCTAGTTTAGAAAAACACCTAACTAGAACGGAAAAAAAAAGTTATACAGATGGGTCTGAGTAAAGGGCAAGCAAGGTATAAACACAACCAAAATAGTTTTATATGTGTTTAGTAAGTTATGCATAATATTTTACTGTGAAAAAAGTCAATCTTTATTTACTAACTTCTCAGGTCTGTAGAACATTTCATCTTTGGTTTGAGACACATATGTATCAAAGTGCATAGAAAATGCTTTAAAATATTTAAAAAGGAAGTTAAAATAAAACCTACACTATTCATCAGTAATCTTAGTTTTTCAATGTCTTTCATCTGCTGGAGTTCTTTCAGGGTTAGAGTTACATCACACCTGGCTTCATAAACCAATGTTTCCAGAGTAACCAAATTGTCACAGAGAACCAGCAAACCAGGAATATTCCGCTCCATCCCAAGTCGAATAAGTGACAATGCACAGTCCACCTAAAATTGAAAAGCAACAATAAGTTCCTGAGTATTATATATTTCTCATCTATTCTAAAGTAAAAGTCTCCAGTACAGAATCTAATTCTTATAATCATTTTTTATAAAATTGCATTACCAGTAACATACGTTTTTTATTTACTGCAAAAACATCAGAGTCCTTTATCAAATACATCAGCATCAAACTGTTTCAAAGGAATCAAACAATCAGCAAGAAATACGGAAGAGAAAGACAACCAACCTATTATAAATTTGTAGAGCGTTACAGTTCACAATGCAGCTTTACATATTTCTTTTAATTCTTACAACATTATATTTACATAATAAGAGAAAAAACACATACCTACTAATGATAATGTCAAAATAACCTTATTTTTACTATTACCACTCTGCTTCCAAAAAGAATGTTTGTTTTGAAGGTTTTACTTTTATATTCCTGTATAGTATCTATCCTTTCACACTGCCTTTCCATATAAAAGTCATTCAATAAATATTTGCTGAATAACTATGTTACAAACACTTTCTTGGTCTCAGTTCAAATATTTAGCCTTCAAAAGACAAAAACACAGACTGATATTCCTGAAGATGCTCAGGAAACAGCCATTTGACCCCTATTTCCTGGTCAAGTTTATGAACTGATACATTCTCCGAGTGATAGAGAAATGATCTAGTGTAGTCTAAAGCCATTCTCTCTCACACTACTTCTTACTCTCCTATTCCCAATTATTCATGAGGACCTACTAGAAGCTAAGCACCATTCACCATTTGTGTTAGAAATACAAAACTGAGTAAGATGAGGTCTCTTCCTTCAAAGATCTCTCAGCCTTGTAAGAAAAGACAACCACAATGACTGAAGCAGAGTGCAGTGAGTGCTGTGTATGATGCGGATCCCACAGAAGACAGTACTTAGCCAGCCTGAGAGGGTCCCAGAGGAGGGAACACTTAGCATGGACTCTAAAGAATCAAAGGGTATTTGTGAGGTGAGGAAGGAAGATTATGGGAAGGAGAGCAGCATGGAATGCAGAGATGCATGGTGAGTTGTGAAAGTACAATTCCACGTGACTGAAAAGAAGGTGTGAGGGGCAGCAATGAGAAAGACGGCTAGAGTAGGAGGGACGGGCCGGATCATGAATGCTGTGTGTCAAGCTAAGGAACACGCAGCTGATCAGGAAGGCAGAGGATTTCTGAATGAGACATGTCACAAATAGAGCTACACTTTGGAAGGAATACTAAGTATTTACTGACTGATGAATGAAATGTACATGATGAACTGGAAATGGACTGGAGTGAAAATAGGCAGGCTGGTCAGAAGAATTACAGTTACCAGTATTAGAGAAATTCTGACAGAAACACACTGATTCGCCATTCATTGACTGATTAGTTCACACACTTATTCACAGACAGTAAATACTTGTTGCATATTTCTAATATACTGGGCAAAAATAATAAGGGGCTAAACTATGACAGTATTCCTGAAGACATACAAGAAAAAGAATATAACAGATAATTAAGCAGACAGAATTTGTGAAATTTGGTCAGAGCAGATGAGAAATTTGAGTAAAGAGGAGTCTAGAATGATTTCTCATCTAATCCACAGCAGAAATTCATATTCATACATATATATGTGTGTGTGTGTGTGTGTGTGTGTAGAAGAATACATTTATTAAAAGTAAAAATTGTGTGTGTGTATGAGTGTGTGTGTGTGTGTCTGTGTTAGAGGCAAGGTCTTCCTATACTGCCCAGGTTGGAGTGGAGTGGGTTATTCACAAGTGCAGTCATAGCACATTACAGCCTTGAACTCCTGGGCTCTAGTGATCTTCCCACCTCCGCAACAGAGCAGGTGGGACTAAAGGCGCATGCCACCATGCCATGCCTGGCTTTTAATTCTATATTGACCATGTTGCTTGTGAGGTGCCC
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GTTTCTACTTACATCTGGTTTGGAATGCTGAAATATCTTCAGGGGAAATTTTAAGTCCCCTTTAGCTAAAGTTACTAAATATTCTTTTAATAGCTCATTAGCCACACCAGGCGACTGTTTCTCACAACGATGAAGAAAGGGAACCATCCACTGGTAGGCACTTGTCACATATTTATCCTCAGAACACTGAAAGTACAATCAAGCAAAACAGACAAACAAGAATGAAGTTAAACTAAATGCCTTATTATATCAGACAGCGAGTTCTAAAGCTTACAGGTCCTCAGACTGATGTTAAACAGTGCAAACCCAACACTCTAAAACACACAGTCCAGTTCACCACTCACATGTGGATTGACAGGTAGCAGGAAAATGAATCACCTGCTACTGGGGCTAGTAGAGCTGACAGCAACAATATCACTATGGCTCATCTCTTTACATCATAAGCAATATGGGGTCCCAAGGAGCCTAAGCTCAGCTCTAGAAAACCAACATGCTGCTACTACAACTCAGTCATGAGGTCATCCAGAGCAAAGAGAAGGCATACGCAAAAACAGAGAGAGAGAGAGAGAGAGAGAGTATAAAAAGAGGCAGAGACACACAGAAAAGGAGACCTTAGACCAACAAAGAGTGAATAAAAAAAGTAGAAAGACAGAGATACACAAATAAGCACAGGTTCTAAAATAGGGGCCTCTAGAAAATAGGGTTTCATCTATAAAAGTCAGGAATCTCTCCCTTCTTTTTCCTCTTCCTCTTTGTTTTGCCCCTTTACAACCACCTTTACAAAATTCCAAATGACAGAGATAGTTTTACTCATTATCCCTAAAATTACACAATCGTTTCTCTTAATTATCCCCCAAAAGATACACCTAAAGCTATTAAGAGGAGTCAACATATAACACAAATTAATTTTAATTAGGTAGATTATCAGGAAAAGAAACTAATGAGATAACGGGAAAGTAAAGACAGAGGGAGAGACAAAAGGAAGATAAGCCAGGAGAGGTGGCTCACGCCTATCATCCCAGCACTTTGGGAGGCCTAGGCAGGTAGATCGCCTGAGGTCAGGAGTTCAAGACCAGTGCCTGGCCAACATGGTGAAACCCTATCTCTATTAAAAATGCAAAAATTAGCCTGGTGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGATGGAGGTTACAGTGAGCCAAGATCACGTCACTGCACTCCAGCCTGGGCCACAGAGTGAGACTCCATCTGAAAAAAAGAAAAAAAAAAAAAAAAGGAAGATAAATATAAGATGGGGGAAAATGTGGAAGGGAAGGAGAGAAAAAGAGTCCAGGGAGGAAAAAGAACCTATCATGCAGTTGTGACTCTGCCCCTTCTTCTGGACCATTCAACCTAAGCTGCCAACAAGCAAAAGACTAGAAAGAGCGTTGGCAGCTACCACCTCCACAGCACCATCCTTCTTGCCTGTTGACTCAGTGGCCGGAGTACAAATAAGGTTCTAATTTTGGGGAGAAAGCACAGAATGATCTAAGAATTACTGGGAAAATTCTCTTAAACATACTAACCCTGAAGCCAAGATGTTTTCTTCAAACAACCACCCGGTCCTCTTAACCCTGATACTTTTTTCCAGTCCTTGAAATACATAAGTAATTGGGAAGTTTAACAAAGTGAAAGGTTAAATACAGGATTACTAGAATCACTAGCTAGTTTAGAAAAACACCTAACTAGAACGGAAAAAAAAAGTTATACAGATGGGTCTGAGTAAAGGGCAAGCAAGGTATAAACACAACCAAAATAGTTTTATATGTGTTTAGTAAGTTATGCATAATATTTTACTGTGAAAAAAGTCAATCTTTATTTACTAACTTCTCAGGTCTGTAGAACATTTCATCTTTGGTTTGAGACACATATGTATCAAAGTGCATAGAAAATGCTTTAAAATATTTAAAAAGGAAGTTAAAATAAAACCTACACTATTCATCAGTAATCTTAGTTTTTCAATGTCTTTCATCTGCTGGAGTTCTTTCCGGGTTAGAGTTACATCACACCTGGCTTCATAAACCAATGTTTCCAGAGTAACCAAATTGTCACAGAGAACCAGCAAACCAGGAATATTCCGCTCCATCCCAAGTCGAATAAGTGACAATGCACAGTCCACCTAAAATTGAAAAGCAACAATAAGTTCCTGAGTATTATATATTTCTCATCTATTCTAAAGTAAAAGTCTCCAGTACAGAATCTAATTCTTATAATCATTTTTTATAAAATTGCATTACCAGTAACATACGTTTTTTATTTACTGCAAAAACATCAGAGTCCTTTATCAAATACATCAGCATCAAACTGTTTCAAAGGAATCAAACAATCAGCAAGAAATACGGAAGAGAAAGACAACCAACCTATTATAAATTTGTAGAGCGTTACAGTTCACAATGCAGCTTTACATATTTCTTTTAATTCTTACAACATTATATTTACATAATAAGAGAAAAAACACATACCTACTAATGATAATGTCAAAATAACCTTATTTTTACTATTACCACTCTGCTTCCAAAAAGAATGTTTGTTTTGAAGGTTTTACTTTTATATTCCTGTATAGTATCTATCCTTTCACACTGCCTTTCCATATAAAAGTCATTCAATAAATATTTGCTGAATAACTATGTTACAAACACTTTCTTGGTCTCAGTTCAAATATTTAGCCTTCAAAAGACAAAAACACAGACTGATATTCCTGAAGATGCTCAGGAAACAGCCATTTGACCCCTATTTCCTGGTCAAGTTTATGAACTGATACATTCTCCGAGTGATAGAGAAATGATCTAGTGTAGTCTAAAGCCATTCTCTCTCACACTACTTCTTACTCTCCTATTCCCAATTATTCATGAGGACCTACTAGAAGCTAAGCACCATTCACCATTTGTGTTAGAAATACAAAACTGAGTAAGATGAGGTCTCTTCCTTCAAAGATCTCTCAGCCTTGTAAGAAAAGACAACCACAATGACTGAAGCAGAGTGCAGTGAGTGCTGTGTATGATGCGGATCCCACAGAAGACAGTACTTAGCCAGCCTGAGAGGGTCCCAGAGGAGGGAACACTTAGCATGGACTCTAAAGAATCAAAGGGTATTTGTGAGGTGAGGAAGGAAGATTATGGGAAGGAGAGCAGCATGGAATGCAGAGATGCATGGTGAGTTGTGAAAGTACAATTCCACGTGACTGAAAAGAAGGTGTGAGGGGCAGCAATGAGAAAGACGGCTAGAGTAGGAGGGACGGGCCGGATCATGAATGCTGTGTGTCAAGCTAAGGAACACGCAGCTGATCAGGAAGGCAGAGGATTTCTGAATGAGACATGTCACAAATAGAGCTACACTTTGGAAGGAATACTAAGTATTTACTGACTGATGAATGAAATGTACATGATGAACTGGAAATGGACTGGAGTGAAAATAGGCAGGCTGGTCAGAAGAATTACAGTTACCAGTATTAGAGAAATTCTGACAGAAACACACTGATTCGCCATTCATTGACTGATTAGTTCACACACTTATTCACAGACAGTAAATACTTGTTGCATATTTCTAATATACTGGGCAAAAATAATAAGGGGCTAAACTATGACAGTATTCCTGAAGACATACAAGAAAAAGAATATAACAGATAATTAAGCAGACAGAATTTGTGAAATTTGGTCAGAGCAGATGAGAAATTTGAGTAAAGAGGAGTCTAGAATGATTTCTCATCTAATCCACAGCAGAAATTCATATTCATACATATATATGTGTGTGTGTGTGTGTGTGTGTGTAGAAGAATACATTTATTAAAAGTAAAAATTGTGTGTGTGTATGAGTGTGTGTGTGTGTGTCTGTGTTAGAGGCAAGGTCTTCCTATACTGCCCAGGTTGGAGTGGAGTGGGTTATTCACAAGTGCAGTCATAGCACATTACAGCCTTGAACTCCTGGGCTCTAGTGATCTTCCCACCTCCGCAACAGAGCAGGTGGGACTAAAGGCGCATGCCACCATGCCATGCCTGGCTTTTAATTCTATATTGACCATGTTGCTTGTGAGGTGCCC
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Task1_train_3118
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This mutation occurs in LOC129933155, NBAS (ATAC-STARR-seq lymphoblastoid active region 15346| NBAS subunit of NRZ tethering complex) on Chromosome 2. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome
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CCAGTTCAGCATACTCTATTGAGGCTGTAAGTTTTGCTCACAGGAAAAGTGGTCATATCTCCAAGGCCAATTCATTGACTATCTGTTGTGTATCTATACAGACAATGCTACTAACAAAACATACACAGATACGTAATTGCTATATTAAATAATTCCATTCCATAAGTATAGACTGAACACACCGTGGGTAGGTTCATGACGCTAGGCACTGCATAAGATGCACTAAAGTGCTGTCAAGAAAAGCACAATGGACATACAGTAAGTGTAGACAGATTTTTTTAAAAAACACAGAAAAGTTATTTCACTCAATAAACATGAATTGATTGTTGGATTCATGCAAGACACAATTTGGCCCTGGGAAGAGATATAAAGATGAATCAGATGTCTGCCCTCCAAGAGCTTATAATTCAACAGCTGAAATCAACAGAATGCAGAAATCGATAGAATGCAGAAATCAATTGAACTCCCCCACCCCCAACACACAAACACAAAACAAAGTGCTAAGGGTTTCAAAGTAAGTTAATTCTGTGGTTACTTTTTTGGAATCAATTTATGGTAAGCATTCTGAAACATTACTGCAATTAACCAATGAGTGTTAAGGAGTGGAAACTTATCTAACCAGCTGCCTCAGCAACAGCTTCCTAGCTGCATAACCCAAAAAATATTCACATTAAGACAAACTAAGTACTTGAAATTAAACAGTAATATATGCAGATCTCTACCCGTCTACAAAATAAATTATTCATGATAAGCACAAACTGCAGTGGGAAGGAGGCTACAGAGGAAAAAAATACAAACTTTGGGCTGAAAAATGAGTCGTTTCTCCAGCAAAGAAACACTCAGAAAAAATGTAAGATAACTCACATGGGCTGGACTACATAATCTTTAATAAAGGTTCTTTTCGATCTGGCTGCTTCCTCTGGGTCTAAAACAGTAACTGGCACGTGTTAAGCACTCAATAAATATCTGTTAAATAAACATGGATCCAAAAAATAATAATAATAAAAAATAAAATAAAATAAACATGGATCCATGGTTCCTACTCTTCATCACAGACCCGGGAGGCCTTCACTACCAAACAACTGATAATCCCAAGATCCAGTCCATAAATTATCAACCTCTATAACCCTTCTGTAGCGGAGATCCCAATCCCAGTCAGCAGCTCTTTACTCTGCACTTCCGTGGCATTTTGCTCACATCGCTAACTATAGCGCATAAAACGCTAGGTTATGAAAAACGTTTACGGGACTGTCTCCCCTCTAGACGAGAAGCTCCACGAAAACATATTCATCTCTGTATCCTTAGCACCTAGCACAGCACCTGTGACACCGAGACAGACGAACGGACACGCACACCCTTATTAAATGCTCTTTTATTGAAACACACAAGACCTGGCGCGATCCAGCCCCCAGTATGGGTAAAGGCTCAGATTCTGCGCTCTGCACCAGCCTGGCAGATGCTGCAGACTGTAAGGTCCTGGAAAATTCTCCCATCGCAGTTGAGCGTCGGCCCAGACTAGCCCTAGCCAGACCGCGAGAAGGGACCACTGAGGGTCCAGATAGGAGAAAGGACCCTCGAGTCCAGCGCTGTGCCTTCCCCTCCTAATACAGAGAGCGACACTAACAATCCCCTCTCCTCCCAATACAGAGAGCGAAACTGAGAACCAAAGTGGGATCGTACGCTCCCCAGAGCACGAAGTTCCAGCCCCCAACAACCGAATTCTGAGCCCAGGAAGAATCTCAGGGACCACCACCCCACCCCGCCCTAGACCCCCGCTAGCCCAAGGTGCCGTTGCCAAGGCGACCGCACAAGCCAACCGGCCCTAGTCCCCCACCCACCCGTCTCCACTCCCCTACGTGGCTCCTGCTACGTGGCTCTACCCACGAAGCGCCCGCGCCAAGCTGGCTGCTGCTGTAGATGGGCCTGGTTCACCTGTACTTCAGTCTCCGGTGGCCACTCGGTGTTGACCAACAAGTCATAGAGAATCGTCTCCTCCTCACCCTCTGCAGTGCCTGGACTCAAAGCCGGCCCTGACTCGGGGGCCGCCATGTTCGCCGAGGACTCAGGCAGCGGAGGAGTGTCTCTACGGAATCCCTCACAGGACAAGCTTCTCTATCCGCGGCCGCTTTTGTTTCACGGCAAGGAAATGCTAGGTTAACCCTTTTATGAGTAGGAAGGACAGGGACTATTGCTTGTCTTGGGAACGACTTGTGTCCCGGTCCTGATACACTCCTTGTTCATTAATCTACATGAGATCGGCCAAGTCATTGAGCCTCTCTTATAACTCAGTTTCCATAAAACAGAAATGGTAAAGGTACCCCACTGAAATGCTAATGTTCATTTGTATATTCTTTGCCTAACACGTAGAGAGAGTTCAAACAGTGGTTTTAAAATAAACAACTAAAGTTATCCAATGAAAGGTAGCAGAGGAAGGATGCTACAGGAGCTCAGAAAAGGCAACGAAGGCCAGAGTCTGCAGGGATTTCCTGGAGGACGTGGAGCTTGTCCCTGCGTCTTTAACAATAGGCAGAATTTTAATCTACTGGAGAAGCATTTCAAGTAGCGGGAAATGGAATGAGCAGAGACAGAGGCAGAAATACAGAGTTGAAAGAACTCTTTCAACGTGTCGCCAGTGAGTGACGACTTTCTCAGTGTGGGAGTAAAAGAATTTACCAAGACAGTGGTAGATAAAGAAAGACAGATTAAAGAAAGTATGAAAGTTCGTTGCCAGGGAGCAGCGGGCCGACTCAGCAGAGGAGGAGCTCATTGCTAGGAAACAAAGGCTTGTTGAGAATTTTATAGACTGGAACTTGGAGTGATTGATAACACCAGGTAGCAGGGAGTTAACTTGCTTTTTTTTTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTGTCAGCTGAAGTGTTTCAGAAATTGAGGCATTTGAAGGTAAGCAGGAAGTTTGTGAGTTAAGTACGTTATCTGGGTAGAAGGGCCATATGTCCTGGGCCATAAAGAAAAGTAGACCTATGGCTTATTTGTTTCTTCCTTTTGTTTATATGTTTTGGACCATGAAGAAAGACAGACGTATAGCTAATTTGCCTTATCTCTTTGTTTTTCCCTGCTCCCACTAGCCTGCCTTTTTTTTTTTCCTAATTAGTACTCAACAAGACGGGTGAATAGAACCCAAGTTGAGAAAGGGTGTAGGGGCAATAAAGTTGAAATAATAGGTTGAGAACCCGCATGGAGGGAGCGAAAAGGTCAACCCCATTTGTTCATTCATTCATTCATTCAACAAATACCTCTTTGTGGACAGTTATAAGCAGAGCCTACTGTAACATGAATGAATATATACTGTACAAAGTATTACACTGTTTCACATCAAAAGAAACACAAATACTGAATATCCCTTGAGATAATTATATTCATGATATCCATCAAGATGCATTAGGCGGTGATGCAATTAAAAGCCTCTGCTGGGAAGCCTCTAACCAGCTCCCATTTCTCTCAAAGTTTAATGACCTCAAAGCCCTACGTCATCTGCCTGCTCCCCTAAATCTCACACCTCATTTCCTGCTCCCCCTACTACCTTCAGCCACACTGGCTCTATTTCTGAACACACCAGACACACATCAACTTCAGGAGTTCTGCAAAGCCTGTCCCCTCCACTTGGAAGGCTTTCTACCAGATGTTTACCTGGTTCCTCCCTTATCTCCTTCAAGTTTTTGCTCAAATGTCGTCTCTCTCTGAAGCCTACCTTGACTGCTCATTTTTAAATTTGCAATGACCATTCTCCAACTCCAGCTTTCCAGAGCTGCTCTATTATTTTTTCCATTACACTTGTCATCACTTAAATGGCTATACAGTATATTTGCTTATTATCTGTCTCCATTCACTAAAAGGTAAGCCATGCCAGGTGCTCTATCTATATGCATGCAAATGCTATATCCATCCCTGCTATATCCCCAGAATTTATAACAGTGCCTGGCATAGAGCAGAGGACAAAATATATATTATTTGTTGAATAAATGACAGACTTCCCAGAAAATCTTTTACACATTGTCTCCCCATAGTATTTCTCTGCATAGCAGCTGTGCCCTTCAATCAAACCCCTCAT
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CCAGTTCAGCATACTCTATTGAGGCTGTAAGTTTTGCTCACAGGAAAAGTGGTCATATCTCCAAGGCCAATTCATTGACTATCTGTTGTGTATCTATACAGACAATGCTACTAACAAAACATACACAGATACGTAATTGCTATATTAAATAATTCCATTCCATAAGTATAGACTGAACACACCGTGGGTAGGTTCATGACGCTAGGCACTGCATAAGATGCACTAAAGTGCTGTCAAGAAAAGCACAATGGACATACAGTAAGTGTAGACAGATTTTTTTAAAAAACACAGAAAAGTTATTTCACTCAATAAACATGAATTGATTGTTGGATTCATGCAAGACACAATTTGGCCCTGGGAAGAGATATAAAGATGAATCAGATGTCTGCCCTCCAAGAGCTTATAATTCAACAGCTGAAATCAACAGAATGCAGAAATCGATAGAATGCAGAAATCAATTGAACTCCCCCACCCCCAACACACAAACACAAAACAAAGTGCTAAGGGTTTCAAAGTAAGTTAATTCTGTGGTTACTTTTTTGGAATCAATTTATGGTAAGCATTCTGAAACATTACTGCAATTAACCAATGAGTGTTAAGGAGTGGAAACTTATCTAACCAGCTGCCTCAGCAACAGCTTCCTAGCTGCATAACCCAAAAAATATTCACATTAAGACAAACTAAGTACTTGAAATTAAACAGTAATATATGCAGATCTCTACCCGTCTACAAAATAAATTATTCATGATAAGCACAAACTGCAGTGGGAAGGAGGCTACAGAGGAAAAAAATACAAACTTTGGGCTGAAAAATGAGTCGTTTCTCCAGCAAAGAAACACTCAGAAAAAATGTAAGATAACTCACATGGGCTGGACTACATAATCTTTAATAAAGGTTCTTTTCGATCTGGCTGCTTCCTCTGGGTCTAAAACAGTAACTGGCACGTGTTAAGCACTCAATAAATATCTGTTAAATAAACATGGATCCAAAAAATAATAATAATAAAAAATAAAATAAAATAAACATGGATCCATGGTTCCTACTCTTCATCACAGACCCGGGAGGCCTTCACTACCAAACAACTGATAATCCCAAGATCCAGTCCATAAATTATCAACCTCTATAACCCTTCTGTAGCGGAGATCCCAATCCCAGTCAGCAGCTCTTTACTCTGCACTTCCGTGGCATTTTGCTCACATCGCTAACTATAGCGCATAAAACGCTAGGTTATGAAAAACGTTTACGGGACTGTCTCCCCTCTAGACGAGAAGCTCCACGAAAACATATTCATCTCTGTATCCTTAGCACCTAGCACAGCACCTGTGACACCGAGACAGACGAACGGACACGCACACCCTTATTAAATGCTCTTTTATTGAAACACACAAGACCTGGCGCGATCCAGCCCCCAGTATGGGTAAAGGCTCAGATTCTGCGCTCTGCACCAGCCTGGCAGATGCTGCAGACTGTAAGGTCCTGGAAAATTCTCCCATCGCAGTTGAGCGTCGGCCCAGACTAGCCCTAGCCAGACCGCGAGAAGGGACCACTGAGGGTCCAGATAGGAGAAAGGACCCTCGAGTCCAGCGCTGTGCCTTCCCCTCCTAATACAGAGAGCGACACTAACAATCCCCTCTCCTCCCAATACAGAGAGCGAAACTGAGAACCAAAGTGGGATCGTACGCTCCCCAGAGCACGAAGTTCCAGCCCCCAACAACCGAATTCTGAGCCCAGGAAGAATCTCAGGGACCACCACCCCACCCCGCCCTAGACCCCCGCTAGCCCAAGGTGCCGTTGCCAAGGCGACCGCACAAGCCAACCGGCCCTAGTCCCCCACCCACCCGTCTCCACTCCCCTACGTGGCTCCTGCTACGTGGCTCTACCCACGAAGCGCCCGCGCCAAGCTGGCTGCTGCTGTAGATGGGCCTGGTTCACCTGTACTTCAGTCTCCGGTGGCCACTCGGTGTTGACCAACAAGTCATAGAGAATCGTCTCCTCCTCACCCTCTGCAGTGCCTGGACTCAAAGCCGGCCCTGACTCGGGGGCCGCCAGGTTCGCCGAGGACTCAGGCAGCGGAGGAGTGTCTCTACGGAATCCCTCACAGGACAAGCTTCTCTATCCGCGGCCGCTTTTGTTTCACGGCAAGGAAATGCTAGGTTAACCCTTTTATGAGTAGGAAGGACAGGGACTATTGCTTGTCTTGGGAACGACTTGTGTCCCGGTCCTGATACACTCCTTGTTCATTAATCTACATGAGATCGGCCAAGTCATTGAGCCTCTCTTATAACTCAGTTTCCATAAAACAGAAATGGTAAAGGTACCCCACTGAAATGCTAATGTTCATTTGTATATTCTTTGCCTAACACGTAGAGAGAGTTCAAACAGTGGTTTTAAAATAAACAACTAAAGTTATCCAATGAAAGGTAGCAGAGGAAGGATGCTACAGGAGCTCAGAAAAGGCAACGAAGGCCAGAGTCTGCAGGGATTTCCTGGAGGACGTGGAGCTTGTCCCTGCGTCTTTAACAATAGGCAGAATTTTAATCTACTGGAGAAGCATTTCAAGTAGCGGGAAATGGAATGAGCAGAGACAGAGGCAGAAATACAGAGTTGAAAGAACTCTTTCAACGTGTCGCCAGTGAGTGACGACTTTCTCAGTGTGGGAGTAAAAGAATTTACCAAGACAGTGGTAGATAAAGAAAGACAGATTAAAGAAAGTATGAAAGTTCGTTGCCAGGGAGCAGCGGGCCGACTCAGCAGAGGAGGAGCTCATTGCTAGGAAACAAAGGCTTGTTGAGAATTTTATAGACTGGAACTTGGAGTGATTGATAACACCAGGTAGCAGGGAGTTAACTTGCTTTTTTTTTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTGTCAGCTGAAGTGTTTCAGAAATTGAGGCATTTGAAGGTAAGCAGGAAGTTTGTGAGTTAAGTACGTTATCTGGGTAGAAGGGCCATATGTCCTGGGCCATAAAGAAAAGTAGACCTATGGCTTATTTGTTTCTTCCTTTTGTTTATATGTTTTGGACCATGAAGAAAGACAGACGTATAGCTAATTTGCCTTATCTCTTTGTTTTTCCCTGCTCCCACTAGCCTGCCTTTTTTTTTTTCCTAATTAGTACTCAACAAGACGGGTGAATAGAACCCAAGTTGAGAAAGGGTGTAGGGGCAATAAAGTTGAAATAATAGGTTGAGAACCCGCATGGAGGGAGCGAAAAGGTCAACCCCATTTGTTCATTCATTCATTCATTCAACAAATACCTCTTTGTGGACAGTTATAAGCAGAGCCTACTGTAACATGAATGAATATATACTGTACAAAGTATTACACTGTTTCACATCAAAAGAAACACAAATACTGAATATCCCTTGAGATAATTATATTCATGATATCCATCAAGATGCATTAGGCGGTGATGCAATTAAAAGCCTCTGCTGGGAAGCCTCTAACCAGCTCCCATTTCTCTCAAAGTTTAATGACCTCAAAGCCCTACGTCATCTGCCTGCTCCCCTAAATCTCACACCTCATTTCCTGCTCCCCCTACTACCTTCAGCCACACTGGCTCTATTTCTGAACACACCAGACACACATCAACTTCAGGAGTTCTGCAAAGCCTGTCCCCTCCACTTGGAAGGCTTTCTACCAGATGTTTACCTGGTTCCTCCCTTATCTCCTTCAAGTTTTTGCTCAAATGTCGTCTCTCTCTGAAGCCTACCTTGACTGCTCATTTTTAAATTTGCAATGACCATTCTCCAACTCCAGCTTTCCAGAGCTGCTCTATTATTTTTTCCATTACACTTGTCATCACTTAAATGGCTATACAGTATATTTGCTTATTATCTGTCTCCATTCACTAAAAGGTAAGCCATGCCAGGTGCTCTATCTATATGCATGCAAATGCTATATCCATCCCTGCTATATCCCCAGAATTTATAACAGTGCCTGGCATAGAGCAGAGGACAAAATATATATTATTTGTTGAATAAATGACAGACTTCCCAGAAAATCTTTTACACATTGTCTCCCCATAGTATTTCTCTGCATAGCAGCTGTGCCCTTCAATCAAACCCCTCAT
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Task1_train_3119
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This variant impacts the gene LOC129933155, NBAS (ATAC-STARR-seq lymphoblastoid active region 15346| NBAS subunit of NRZ tethering complex) on Chromosome 2. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Infantile liver failure syndrome 2
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CCAGTTCAGCATACTCTATTGAGGCTGTAAGTTTTGCTCACAGGAAAAGTGGTCATATCTCCAAGGCCAATTCATTGACTATCTGTTGTGTATCTATACAGACAATGCTACTAACAAAACATACACAGATACGTAATTGCTATATTAAATAATTCCATTCCATAAGTATAGACTGAACACACCGTGGGTAGGTTCATGACGCTAGGCACTGCATAAGATGCACTAAAGTGCTGTCAAGAAAAGCACAATGGACATACAGTAAGTGTAGACAGATTTTTTTAAAAAACACAGAAAAGTTATTTCACTCAATAAACATGAATTGATTGTTGGATTCATGCAAGACACAATTTGGCCCTGGGAAGAGATATAAAGATGAATCAGATGTCTGCCCTCCAAGAGCTTATAATTCAACAGCTGAAATCAACAGAATGCAGAAATCGATAGAATGCAGAAATCAATTGAACTCCCCCACCCCCAACACACAAACACAAAACAAAGTGCTAAGGGTTTCAAAGTAAGTTAATTCTGTGGTTACTTTTTTGGAATCAATTTATGGTAAGCATTCTGAAACATTACTGCAATTAACCAATGAGTGTTAAGGAGTGGAAACTTATCTAACCAGCTGCCTCAGCAACAGCTTCCTAGCTGCATAACCCAAAAAATATTCACATTAAGACAAACTAAGTACTTGAAATTAAACAGTAATATATGCAGATCTCTACCCGTCTACAAAATAAATTATTCATGATAAGCACAAACTGCAGTGGGAAGGAGGCTACAGAGGAAAAAAATACAAACTTTGGGCTGAAAAATGAGTCGTTTCTCCAGCAAAGAAACACTCAGAAAAAATGTAAGATAACTCACATGGGCTGGACTACATAATCTTTAATAAAGGTTCTTTTCGATCTGGCTGCTTCCTCTGGGTCTAAAACAGTAACTGGCACGTGTTAAGCACTCAATAAATATCTGTTAAATAAACATGGATCCAAAAAATAATAATAATAAAAAATAAAATAAAATAAACATGGATCCATGGTTCCTACTCTTCATCACAGACCCGGGAGGCCTTCACTACCAAACAACTGATAATCCCAAGATCCAGTCCATAAATTATCAACCTCTATAACCCTTCTGTAGCGGAGATCCCAATCCCAGTCAGCAGCTCTTTACTCTGCACTTCCGTGGCATTTTGCTCACATCGCTAACTATAGCGCATAAAACGCTAGGTTATGAAAAACGTTTACGGGACTGTCTCCCCTCTAGACGAGAAGCTCCACGAAAACATATTCATCTCTGTATCCTTAGCACCTAGCACAGCACCTGTGACACCGAGACAGACGAACGGACACGCACACCCTTATTAAATGCTCTTTTATTGAAACACACAAGACCTGGCGCGATCCAGCCCCCAGTATGGGTAAAGGCTCAGATTCTGCGCTCTGCACCAGCCTGGCAGATGCTGCAGACTGTAAGGTCCTGGAAAATTCTCCCATCGCAGTTGAGCGTCGGCCCAGACTAGCCCTAGCCAGACCGCGAGAAGGGACCACTGAGGGTCCAGATAGGAGAAAGGACCCTCGAGTCCAGCGCTGTGCCTTCCCCTCCTAATACAGAGAGCGACACTAACAATCCCCTCTCCTCCCAATACAGAGAGCGAAACTGAGAACCAAAGTGGGATCGTACGCTCCCCAGAGCACGAAGTTCCAGCCCCCAACAACCGAATTCTGAGCCCAGGAAGAATCTCAGGGACCACCACCCCACCCCGCCCTAGACCCCCGCTAGCCCAAGGTGCCGTTGCCAAGGCGACCGCACAAGCCAACCGGCCCTAGTCCCCCACCCACCCGTCTCCACTCCCCTACGTGGCTCCTGCTACGTGGCTCTACCCACGAAGCGCCCGCGCCAAGCTGGCTGCTGCTGTAGATGGGCCTGGTTCACCTGTACTTCAGTCTCCGGTGGCCACTCGGTGTTGACCAACAAGTCATAGAGAATCGTCTCCTCCTCACCCTCTGCAGTGCCTGGACTCAAAGCCGGCCCTGACTCGGGGGCCGCCATGTTCGCCGAGGACTCAGGCAGCGGAGGAGTGTCTCTACGGAATCCCTCACAGGACAAGCTTCTCTATCCGCGGCCGCTTTTGTTTCACGGCAAGGAAATGCTAGGTTAACCCTTTTATGAGTAGGAAGGACAGGGACTATTGCTTGTCTTGGGAACGACTTGTGTCCCGGTCCTGATACACTCCTTGTTCATTAATCTACATGAGATCGGCCAAGTCATTGAGCCTCTCTTATAACTCAGTTTCCATAAAACAGAAATGGTAAAGGTACCCCACTGAAATGCTAATGTTCATTTGTATATTCTTTGCCTAACACGTAGAGAGAGTTCAAACAGTGGTTTTAAAATAAACAACTAAAGTTATCCAATGAAAGGTAGCAGAGGAAGGATGCTACAGGAGCTCAGAAAAGGCAACGAAGGCCAGAGTCTGCAGGGATTTCCTGGAGGACGTGGAGCTTGTCCCTGCGTCTTTAACAATAGGCAGAATTTTAATCTACTGGAGAAGCATTTCAAGTAGCGGGAAATGGAATGAGCAGAGACAGAGGCAGAAATACAGAGTTGAAAGAACTCTTTCAACGTGTCGCCAGTGAGTGACGACTTTCTCAGTGTGGGAGTAAAAGAATTTACCAAGACAGTGGTAGATAAAGAAAGACAGATTAAAGAAAGTATGAAAGTTCGTTGCCAGGGAGCAGCGGGCCGACTCAGCAGAGGAGGAGCTCATTGCTAGGAAACAAAGGCTTGTTGAGAATTTTATAGACTGGAACTTGGAGTGATTGATAACACCAGGTAGCAGGGAGTTAACTTGCTTTTTTTTTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTGTCAGCTGAAGTGTTTCAGAAATTGAGGCATTTGAAGGTAAGCAGGAAGTTTGTGAGTTAAGTACGTTATCTGGGTAGAAGGGCCATATGTCCTGGGCCATAAAGAAAAGTAGACCTATGGCTTATTTGTTTCTTCCTTTTGTTTATATGTTTTGGACCATGAAGAAAGACAGACGTATAGCTAATTTGCCTTATCTCTTTGTTTTTCCCTGCTCCCACTAGCCTGCCTTTTTTTTTTTCCTAATTAGTACTCAACAAGACGGGTGAATAGAACCCAAGTTGAGAAAGGGTGTAGGGGCAATAAAGTTGAAATAATAGGTTGAGAACCCGCATGGAGGGAGCGAAAAGGTCAACCCCATTTGTTCATTCATTCATTCATTCAACAAATACCTCTTTGTGGACAGTTATAAGCAGAGCCTACTGTAACATGAATGAATATATACTGTACAAAGTATTACACTGTTTCACATCAAAAGAAACACAAATACTGAATATCCCTTGAGATAATTATATTCATGATATCCATCAAGATGCATTAGGCGGTGATGCAATTAAAAGCCTCTGCTGGGAAGCCTCTAACCAGCTCCCATTTCTCTCAAAGTTTAATGACCTCAAAGCCCTACGTCATCTGCCTGCTCCCCTAAATCTCACACCTCATTTCCTGCTCCCCCTACTACCTTCAGCCACACTGGCTCTATTTCTGAACACACCAGACACACATCAACTTCAGGAGTTCTGCAAAGCCTGTCCCCTCCACTTGGAAGGCTTTCTACCAGATGTTTACCTGGTTCCTCCCTTATCTCCTTCAAGTTTTTGCTCAAATGTCGTCTCTCTCTGAAGCCTACCTTGACTGCTCATTTTTAAATTTGCAATGACCATTCTCCAACTCCAGCTTTCCAGAGCTGCTCTATTATTTTTTCCATTACACTTGTCATCACTTAAATGGCTATACAGTATATTTGCTTATTATCTGTCTCCATTCACTAAAAGGTAAGCCATGCCAGGTGCTCTATCTATATGCATGCAAATGCTATATCCATCCCTGCTATATCCCCAGAATTTATAACAGTGCCTGGCATAGAGCAGAGGACAAAATATATATTATTTGTTGAATAAATGACAGACTTCCCAGAAAATCTTTTACACATTGTCTCCCCATAGTATTTCTCTGCATAGCAGCTGTGCCCTTCAATCAAACCCCTCAT
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CCAGTTCAGCATACTCTATTGAGGCTGTAAGTTTTGCTCACAGGAAAAGTGGTCATATCTCCAAGGCCAATTCATTGACTATCTGTTGTGTATCTATACAGACAATGCTACTAACAAAACATACACAGATACGTAATTGCTATATTAAATAATTCCATTCCATAAGTATAGACTGAACACACCGTGGGTAGGTTCATGACGCTAGGCACTGCATAAGATGCACTAAAGTGCTGTCAAGAAAAGCACAATGGACATACAGTAAGTGTAGACAGATTTTTTTAAAAAACACAGAAAAGTTATTTCACTCAATAAACATGAATTGATTGTTGGATTCATGCAAGACACAATTTGGCCCTGGGAAGAGATATAAAGATGAATCAGATGTCTGCCCTCCAAGAGCTTATAATTCAACAGCTGAAATCAACAGAATGCAGAAATCGATAGAATGCAGAAATCAATTGAACTCCCCCACCCCCAACACACAAACACAAAACAAAGTGCTAAGGGTTTCAAAGTAAGTTAATTCTGTGGTTACTTTTTTGGAATCAATTTATGGTAAGCATTCTGAAACATTACTGCAATTAACCAATGAGTGTTAAGGAGTGGAAACTTATCTAACCAGCTGCCTCAGCAACAGCTTCCTAGCTGCATAACCCAAAAAATATTCACATTAAGACAAACTAAGTACTTGAAATTAAACAGTAATATATGCAGATCTCTACCCGTCTACAAAATAAATTATTCATGATAAGCACAAACTGCAGTGGGAAGGAGGCTACAGAGGAAAAAAATACAAACTTTGGGCTGAAAAATGAGTCGTTTCTCCAGCAAAGAAACACTCAGAAAAAATGTAAGATAACTCACATGGGCTGGACTACATAATCTTTAATAAAGGTTCTTTTCGATCTGGCTGCTTCCTCTGGGTCTAAAACAGTAACTGGCACGTGTTAAGCACTCAATAAATATCTGTTAAATAAACATGGATCCAAAAAATAATAATAATAAAAAATAAAATAAAATAAACATGGATCCATGGTTCCTACTCTTCATCACAGACCCGGGAGGCCTTCACTACCAAACAACTGATAATCCCAAGATCCAGTCCATAAATTATCAACCTCTATAACCCTTCTGTAGCGGAGATCCCAATCCCAGTCAGCAGCTCTTTACTCTGCACTTCCGTGGCATTTTGCTCACATCGCTAACTATAGCGCATAAAACGCTAGGTTATGAAAAACGTTTACGGGACTGTCTCCCCTCTAGACGAGAAGCTCCACGAAAACATATTCATCTCTGTATCCTTAGCACCTAGCACAGCACCTGTGACACCGAGACAGACGAACGGACACGCACACCCTTATTAAATGCTCTTTTATTGAAACACACAAGACCTGGCGCGATCCAGCCCCCAGTATGGGTAAAGGCTCAGATTCTGCGCTCTGCACCAGCCTGGCAGATGCTGCAGACTGTAAGGTCCTGGAAAATTCTCCCATCGCAGTTGAGCGTCGGCCCAGACTAGCCCTAGCCAGACCGCGAGAAGGGACCACTGAGGGTCCAGATAGGAGAAAGGACCCTCGAGTCCAGCGCTGTGCCTTCCCCTCCTAATACAGAGAGCGACACTAACAATCCCCTCTCCTCCCAATACAGAGAGCGAAACTGAGAACCAAAGTGGGATCGTACGCTCCCCAGAGCACGAAGTTCCAGCCCCCAACAACCGAATTCTGAGCCCAGGAAGAATCTCAGGGACCACCACCCCACCCCGCCCTAGACCCCCGCTAGCCCAAGGTGCCGTTGCCAAGGCGACCGCACAAGCCAACCGGCCCTAGTCCCCCACCCACCCGTCTCCACTCCCCTACGTGGCTCCTGCTACGTGGCTCTACCCACGAAGCGCCCGCGCCAAGCTGGCTGCTGCTGTAGATGGGCCTGGTTCACCTGTACTTCAGTCTCCGGTGGCCACTCGGTGTTGACCAACAAGTCATAGAGAATCGTCTCCTCCTCACCCTCTGCAGTGCCTGGACTCAAAGCCGGCCCTGACTCGGGGGCCGCCAGGTTCGCCGAGGACTCAGGCAGCGGAGGAGTGTCTCTACGGAATCCCTCACAGGACAAGCTTCTCTATCCGCGGCCGCTTTTGTTTCACGGCAAGGAAATGCTAGGTTAACCCTTTTATGAGTAGGAAGGACAGGGACTATTGCTTGTCTTGGGAACGACTTGTGTCCCGGTCCTGATACACTCCTTGTTCATTAATCTACATGAGATCGGCCAAGTCATTGAGCCTCTCTTATAACTCAGTTTCCATAAAACAGAAATGGTAAAGGTACCCCACTGAAATGCTAATGTTCATTTGTATATTCTTTGCCTAACACGTAGAGAGAGTTCAAACAGTGGTTTTAAAATAAACAACTAAAGTTATCCAATGAAAGGTAGCAGAGGAAGGATGCTACAGGAGCTCAGAAAAGGCAACGAAGGCCAGAGTCTGCAGGGATTTCCTGGAGGACGTGGAGCTTGTCCCTGCGTCTTTAACAATAGGCAGAATTTTAATCTACTGGAGAAGCATTTCAAGTAGCGGGAAATGGAATGAGCAGAGACAGAGGCAGAAATACAGAGTTGAAAGAACTCTTTCAACGTGTCGCCAGTGAGTGACGACTTTCTCAGTGTGGGAGTAAAAGAATTTACCAAGACAGTGGTAGATAAAGAAAGACAGATTAAAGAAAGTATGAAAGTTCGTTGCCAGGGAGCAGCGGGCCGACTCAGCAGAGGAGGAGCTCATTGCTAGGAAACAAAGGCTTGTTGAGAATTTTATAGACTGGAACTTGGAGTGATTGATAACACCAGGTAGCAGGGAGTTAACTTGCTTTTTTTTTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTGTCAGCTGAAGTGTTTCAGAAATTGAGGCATTTGAAGGTAAGCAGGAAGTTTGTGAGTTAAGTACGTTATCTGGGTAGAAGGGCCATATGTCCTGGGCCATAAAGAAAAGTAGACCTATGGCTTATTTGTTTCTTCCTTTTGTTTATATGTTTTGGACCATGAAGAAAGACAGACGTATAGCTAATTTGCCTTATCTCTTTGTTTTTCCCTGCTCCCACTAGCCTGCCTTTTTTTTTTTCCTAATTAGTACTCAACAAGACGGGTGAATAGAACCCAAGTTGAGAAAGGGTGTAGGGGCAATAAAGTTGAAATAATAGGTTGAGAACCCGCATGGAGGGAGCGAAAAGGTCAACCCCATTTGTTCATTCATTCATTCATTCAACAAATACCTCTTTGTGGACAGTTATAAGCAGAGCCTACTGTAACATGAATGAATATATACTGTACAAAGTATTACACTGTTTCACATCAAAAGAAACACAAATACTGAATATCCCTTGAGATAATTATATTCATGATATCCATCAAGATGCATTAGGCGGTGATGCAATTAAAAGCCTCTGCTGGGAAGCCTCTAACCAGCTCCCATTTCTCTCAAAGTTTAATGACCTCAAAGCCCTACGTCATCTGCCTGCTCCCCTAAATCTCACACCTCATTTCCTGCTCCCCCTACTACCTTCAGCCACACTGGCTCTATTTCTGAACACACCAGACACACATCAACTTCAGGAGTTCTGCAAAGCCTGTCCCCTCCACTTGGAAGGCTTTCTACCAGATGTTTACCTGGTTCCTCCCTTATCTCCTTCAAGTTTTTGCTCAAATGTCGTCTCTCTCTGAAGCCTACCTTGACTGCTCATTTTTAAATTTGCAATGACCATTCTCCAACTCCAGCTTTCCAGAGCTGCTCTATTATTTTTTCCATTACACTTGTCATCACTTAAATGGCTATACAGTATATTTGCTTATTATCTGTCTCCATTCACTAAAAGGTAAGCCATGCCAGGTGCTCTATCTATATGCATGCAAATGCTATATCCATCCCTGCTATATCCCCAGAATTTATAACAGTGCCTGGCATAGAGCAGAGGACAAAATATATATTATTTGTTGAATAAATGACAGACTTCCCAGAAAATCTTTTACACATTGTCTCCCCATAGTATTTCTCTGCATAGCAGCTGTGCCCTTCAATCAAACCCCTCAT
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Task1_train_3120
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A variant affecting Chromosome 2, within the gene MYCN, MYCNOS (MYCN proto-oncogene, bHLH transcription factor| MYCN opposite strand), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; MYCN-related disorder
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TTTTTTTTCTTTTAATGACAAGCAATTGCCAGGCTCGCAGGGTGGGTGCTGCATTGCACCGCTCCGCGCGCAGCTGGTTCTCAGAGTGCAGCCGGTGCAAGCCCGGGGGTCCAAAAGGGCGGGAGGAGCACACCCTGGGCTTCCCAGCTTTGCAGCCTTCTCTCTGCAAAGAAAAGCAAGTGGCTTTTGGCGCGAAAGCCTTGGCGCCTCCCCTGATTTTTATGGAAATCAGGAGGGCGGGGTAAAGCCGCTTTCCTCTCCTTTCTCCCTCCCCCTTGTCTGCGCCACAGCCCCCTTCTCTCCCCGCCCCCCGGGTGTGTCAGATTTTTCAGTTAATAATATCCCCCGAGCTTCAAAGCGCAGGCTGTGACAGTCATCTGTCTGGACGCGCTGGGTGGATGCGGGGGGCTCCTGGGAACTGTGTTGGAGCCGAGCAAGCGCTAGCCAGGCGCAAGCGCGCACAGACTGTAGCCATCCGAGGACACCCCCGCCCCCCCGGCCCACCCGGAGACACCCGCGCAGAATCGCCTCCGGATCCCCTGCAGTCGGCGGGAGGTAAGGAGCAGGGCTTGCAAACCGCCCGGCGCCCAGGGAAGCGACGAGCGCCGGGGCAAGGCAAGCCCTGGACGGGATTGCGACGTGCGCACCGGGCGCCCTAATATGCCCGGGGGACTGTTTCTGCTTCCGAAACAAAACCATCTCTGGGTTTTCCCAGAAAAGCCAGTTCCAGCCCCGAAGGCATCCTGGCTAGAGGAGACCCGCCCTAATCCTTTTGCAGCCCTTACCGGGGGGAGTAATGGCTTCTGCGAAAAGAAATTCCCTCGGCTCTAGAAGATCTGTCTGTGTTTGAGCTGTCGGAGAGCCGGTGCGTCCCCACCCCAGGCTGGGGTTCTTCTCCAAAGGGTGCCCCTGGAGGAAGAAGAGGGGGGGATTAGGCAGGGCGAGGCCGCCGCGGTCGCAATCTGGGTCACGGCTGCTCCAGCTTGGAGGAGAGGCGGCTCTCCCGGCGACCCTCCTCGCGCGGGCGCCCCTGCCATTCCCGGGAACAGGGGCTCAGCCTCTCCCTCCCTGGAAGAGGACGTTGTCGTGGGTTTGGAAGAGCAGGGGTGGGCTTAGAGAGCTTCCAATTAAGCTATTGGCAGGAGTATCCCTGCAGCGGGTGAATGCCGAGGGGCGTTTGCTCAAATTTGGGGAGGGGAAGGATTTGTGGATATGGGTGTCTGTTGTTGGTCTCTGTCTAGAGAAAGGCTTTTTTTTATTTGCAAAGTTTTCTAAATCCCCTGCTATCATTTGCACTCCTGAGGTTGCATTTTTACAAAGGGGGTAGAAGGTACTCCAAATACCATTCCCGGTAGCTGGGTCGGAGAGCCTGGGGCTTCCCCTGAGCAGCCGGCCCCACACCGCTGCGAGTGCGGTTGTCTGCGTGCTCGTGAGAGCTAGAATTCTGCAGCCAGGAACAGCCCCCTCCCCCAGGCAGTGCCTTGTGTGAATGAAATGGCAGTTTCCAAAGTTGCGGAGCCTCGCCACCACCCCCTGCATCTGCATGCCCCCTCCCACCCCCTGTCGTAGACAGCTTGTACACAAAAGGAGGGCGGGAGGGAGGGAGCGAGAGGCACAACTTCCTCCACCTTCGGGAGCAGTGGGCAGAGTGGGGGGCTTGGAGGGAAGATTGGGGAACCTGGTTAGAGGGGGCGCCCATTGCCTATCCCCTCGGTCTGCCCCGTTTGCCCACCCTCTCCGGTGTGTCTGTCGGTTGCAGTGTTGGAGGTCGGCGCCGGCCCCCGCCTTCCGCGCCCCCCACGGGAAGGAAGCACCCCCGGTATTAAAACGAACGGGGCGGAAAGAAGCCCTCAGTCGCCGGCCGGGAGGCGAGCCGATGCCGAGCTGCTCCACGTCCACCATGCCGGGCATGATCTGCAAGAACCCAGACCTCGAGTTTGACTCGCTACAGCCCTGCTTCTACCCGGACGAAGATGACTTCTACTTCGGCGGCCCCGACTCGACCCCCCCGGGGGAGGACATCTGGAAGAAGTTTGAGCTGCTGCCCACGCCCCCGCTGTCGCCCAGCCGTGGCTTCGCGGAGCACAGCTCCGAGCCCCCGAGCTGGGTCACGGAGATGCTGCTTGAGAACGAGCTGTGGGGCAGCCCGGCCGAGGAGGACGCGTTCGGCCTGGGGGGACTGGGTGGCCTCACCCCCAACCCGGTCATCCTCCAGGACTGCATGTGGAGCGGCTTCTCCGCCCGCGAGAAGCTGGAGCGCGCCGTGAGCGAGAAGCTGCAGCACGGCCGCGGGCCGCCAACCGCCGGTTCCACCGCCCAGTCCCCGGGAGCCGGCGCCGCCAGCCCTGCGGGTCGCGGGCACGGCGGGGCTGCGGGAGCCGGCCGCGCCGGGGCCGCCCTGCCCGCCGAGCTCGCCCACCCGGCCGCCGAGTGCGTGGATCCCGCCGTGGTCTTCCCCTTTCCCGTGAACAAGCGCGAGCCAGCGCCCGTGCCCGCAGCCCCGGCCAGTGCCCCGGCGGCGGGCCCTGCGGTCGCCTCGGGGGCGGGTATTGCCGCCCCAGCCGGGGCCCCGGGGGTCGCCCCTCCGCGCCCAGGCGGCCGCCAGACCAGCGGCGGCGACCACAAGGCCCTCAGTACCTCCGGAGAGGACACCCTGAGCGATTCAGGTAAAGACCGAACTCGGGTCCGGCTGCCTCCCTGGGGCACTGGACCCCGGGTCGCGTCCCCTTTGTTAGTGCTCGTATGTCTTGGCCTGGGGAGCATTTTGGAGGCAGTGCTAGGGGCAGAGAGGTCCTGTTTCCCCCAAGTCTCTCCTCGGGGTAAAGAGAAGGGGCTGAGAGAATGCCGTTGCAAAAGGGGTGCTCTCCAATTCTCGCCTTCACTAAAGTTCCTTCCACCCTCTCCTGGGGAGCCCTCCTCTAGGCCATCACGGGCCCTCACCCGGTCCCCCACCTCTCTTTTGCAGCGCAGTCTGAGGAATAAAATTGGAGAAAGTTGGTGGCTAAACCGGGTGGGGGTTTAGGGGGTTGCTGGGTGCACTGCCTGGACAGAAACCTGTTAGCGCAGGGGTGAAAGGGACTCTCTGGCCCAGGTCAGGGGAGGGAAAGACATCCCGAGAAGATTCAAGGGCTGTGCAAAGCCCTGTTTAAGGCGCAGGAACTTATAGGAGGGTTGCACAGATGGCTAGAGCCGATTTTCTATTCTTTTTCTTTTTCTTTTTTTTTTTTTTTCAAATGTCGGTACCTTTCCCTTCCCCCATCCTCGGTGGGTGGTGGGCTATTTGCTCCTGGTGCGTGGCCAGCAGGCGGCGATATGCGAGGCCAGCAGGCGGGCCCGGGATCTGAAAGGCTGGGGGTGGTGGGGGCACCCTCCCTCCCTCCATTCAGCAGCTGGCTGCAAGTGCAACAGCAGTTGTGTACATTCTCAGGGGGCCTCCTCTTTCCAGTGTGCAGTGGAAACTGGCTGTAGTTTTGTCTTCCAGCCTGAATTCCAGGCCTAATTTGAGATGTGAGTTGTATCTGTAACCCAGTGCCCTTGAAGGTGAGGGCAGGCACTCAGCAGCCTCTCCAGGAAGGCTCACATCCTGGGAGGACTCACTGATTAGTTCTATTGTGTTCATTTGTCTGTGTCTTAAGCTGAAGGGAAGAGTTAAAACCAAGCCTTTCCCTGGGGGTCTGGATGAACAGAACTCAACCCAAAGAGTGGCATTGCCTTGTCCTTGGAGCAGGGAGCTGGGACCCCCCTTGGACTTTGAAAACCAGTGTTTTCAGAATGCAGGTGGATAACAAGCCTAAATTTACTTCTGGGCTGAGGAGAGATCTTTGAGGCTCCTGGAAGGAAACTTGGTGATAAGCCTCCAGTTTGAAACGGCTCTGTCCCTTTAATGTCTGTGCCTTGACAGCTTTTGGTGAGGAAGCACTTCCTTCCAACAGCTGTCTTCTTGGCAGAAAACCAAAACATTGGCTTAAAGGGACCCACAGACTGGAACAGCCTCACATTTCGGCTTTAGAACAAATCCCACAATTGTTCAGCTTTCCGGTCCCCTTCAGATCAAGCAGAAGATATGTTTTGATTTTCATGCTTGTATTTTAAACAA
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TTTTTTTTCTTTTAATGACAAGCAATTGCCAGGCTCGCAGGGTGGGTGCTGCATTGCACCGCTCCGCGCGCAGCTGGTTCTCAGAGTGCAGCCGGTGCAAGCCCGGGGGTCCAAAAGGGCGGGAGGAGCACACCCTGGGCTTCCCAGCTTTGCAGCCTTCTCTCTGCAAAGAAAAGCAAGTGGCTTTTGGCGCGAAAGCCTTGGCGCCTCCCCTGATTTTTATGGAAATCAGGAGGGCGGGGTAAAGCCGCTTTCCTCTCCTTTCTCCCTCCCCCTTGTCTGCGCCACAGCCCCCTTCTCTCCCCGCCCCCCGGGTGTGTCAGATTTTTCAGTTAATAATATCCCCCGAGCTTCAAAGCGCAGGCTGTGACAGTCATCTGTCTGGACGCGCTGGGTGGATGCGGGGGGCTCCTGGGAACTGTGTTGGAGCCGAGCAAGCGCTAGCCAGGCGCAAGCGCGCACAGACTGTAGCCATCCGAGGACACCCCCGCCCCCCCGGCCCACCCGGAGACACCCGCGCAGAATCGCCTCCGGATCCCCTGCAGTCGGCGGGAGGTAAGGAGCAGGGCTTGCAAACCGCCCGGCGCCCAGGGAAGCGACGAGCGCCGGGGCAAGGCAAGCCCTGGACGGGATTGCGACGTGCGCACCGGGCGCCCTAATATGCCCGGGGGACTGTTTCTGCTTCCGAAACAAAACCATCTCTGGGTTTTCCCAGAAAAGCCAGTTCCAGCCCCGAAGGCATCCTGGCTAGAGGAGACCCGCCCTAATCCTTTTGCAGCCCTTACCGGGGGGAGTAATGGCTTCTGCGAAAAGAAATTCCCTCGGCTCTAGAAGATCTGTCTGTGTTTGAGCTGTCGGAGAGCCGGTGCGTCCCCACCCCAGGCTGGGGTTCTTCTCCAAAGGGTGCCCCTGGAGGAAGAAGAGGGGGGGATTAGGCAGGGCGAGGCCGCCGCGGTCGCAATCTGGGTCACGGCTGCTCCAGCTTGGAGGAGAGGCGGCTCTCCCGGCGACCCTCCTCGCGCGGGCGCCCCTGCCATTCCCGGGAACAGGGGCTCAGCCTCTCCCTCCCTGGAAGAGGACGTTGTCGTGGGTTTGGAAGAGCAGGGGTGGGCTTAGAGAGCTTCCAATTAAGCTATTGGCAGGAGTATCCCTGCAGCGGGTGAATGCCGAGGGGCGTTTGCTCAAATTTGGGGAGGGGAAGGATTTGTGGATATGGGTGTCTGTTGTTGGTCTCTGTCTAGAGAAAGGCTTTTTTTTATTTGCAAAGTTTTCTAAATCCCCTGCTATCATTTGCACTCCTGAGGTTGCATTTTTACAAAGGGGGTAGAAGGTACTCCAAATACCATTCCCGGTAGCTGGGTCGGAGAGCCTGGGGCTTCCCCTGAGCAGCCGGCCCCACACCGCTGCGAGTGCGGTTGTCTGCGTGCTCGTGAGAGCTAGAATTCTGCAGCCAGGAACAGCCCCCTCCCCCAGGCAGTGCCTTGTGTGAATGAAATGGCAGTTTCCAAAGTTGCGGAGCCTCGCCACCACCCCCTGCATCTGCATGCCCCCTCCCACCCCCTGTCGTAGACAGCTTGTACACAAAAGGAGGGCGGGAGGGAGGGAGCGAGAGGCACAACTTCCTCCACCTTCGGGAGCAGTGGGCAGAGTGGGGGGCTTGGAGGGAAGATTGGGGAACCTGGTTAGAGGGGGCGCCCATTGCCTATCCCCTCGGTCTGCCCCGTTTGCCCACCCTCTCCGGTGTGTCTGTCGGTTGCAGTGTTGGAGGTCGGCGCCGGCCCCCGCCTTCCGCGCCCCCCACGGGAAGGAAGCACCCCCGGTATTAAAACGAACGGGGCGGAAAGAAGCCCTCAGTCGCCGGCCGGGAGGCGAGCCGATGCCGAGCTGCTCCACGTCCACCATGCCGGGCATGATCTGCAAGAACCCAGACCTCGAGTTTGACTCGCTACAGCCCTGCTTCTACCCGGACGAAGATGACTTCTACTTCGGCGGCCCCGACTCGACCCCCCCGGGGGAGGACATCTGGAAGAAGTTTGAGCTGCTGCCCATGCCCCCGCTGTCGCCCAGCCGTGGCTTCGCGGAGCACAGCTCCGAGCCCCCGAGCTGGGTCACGGAGATGCTGCTTGAGAACGAGCTGTGGGGCAGCCCGGCCGAGGAGGACGCGTTCGGCCTGGGGGGACTGGGTGGCCTCACCCCCAACCCGGTCATCCTCCAGGACTGCATGTGGAGCGGCTTCTCCGCCCGCGAGAAGCTGGAGCGCGCCGTGAGCGAGAAGCTGCAGCACGGCCGCGGGCCGCCAACCGCCGGTTCCACCGCCCAGTCCCCGGGAGCCGGCGCCGCCAGCCCTGCGGGTCGCGGGCACGGCGGGGCTGCGGGAGCCGGCCGCGCCGGGGCCGCCCTGCCCGCCGAGCTCGCCCACCCGGCCGCCGAGTGCGTGGATCCCGCCGTGGTCTTCCCCTTTCCCGTGAACAAGCGCGAGCCAGCGCCCGTGCCCGCAGCCCCGGCCAGTGCCCCGGCGGCGGGCCCTGCGGTCGCCTCGGGGGCGGGTATTGCCGCCCCAGCCGGGGCCCCGGGGGTCGCCCCTCCGCGCCCAGGCGGCCGCCAGACCAGCGGCGGCGACCACAAGGCCCTCAGTACCTCCGGAGAGGACACCCTGAGCGATTCAGGTAAAGACCGAACTCGGGTCCGGCTGCCTCCCTGGGGCACTGGACCCCGGGTCGCGTCCCCTTTGTTAGTGCTCGTATGTCTTGGCCTGGGGAGCATTTTGGAGGCAGTGCTAGGGGCAGAGAGGTCCTGTTTCCCCCAAGTCTCTCCTCGGGGTAAAGAGAAGGGGCTGAGAGAATGCCGTTGCAAAAGGGGTGCTCTCCAATTCTCGCCTTCACTAAAGTTCCTTCCACCCTCTCCTGGGGAGCCCTCCTCTAGGCCATCACGGGCCCTCACCCGGTCCCCCACCTCTCTTTTGCAGCGCAGTCTGAGGAATAAAATTGGAGAAAGTTGGTGGCTAAACCGGGTGGGGGTTTAGGGGGTTGCTGGGTGCACTGCCTGGACAGAAACCTGTTAGCGCAGGGGTGAAAGGGACTCTCTGGCCCAGGTCAGGGGAGGGAAAGACATCCCGAGAAGATTCAAGGGCTGTGCAAAGCCCTGTTTAAGGCGCAGGAACTTATAGGAGGGTTGCACAGATGGCTAGAGCCGATTTTCTATTCTTTTTCTTTTTCTTTTTTTTTTTTTTTCAAATGTCGGTACCTTTCCCTTCCCCCATCCTCGGTGGGTGGTGGGCTATTTGCTCCTGGTGCGTGGCCAGCAGGCGGCGATATGCGAGGCCAGCAGGCGGGCCCGGGATCTGAAAGGCTGGGGGTGGTGGGGGCACCCTCCCTCCCTCCATTCAGCAGCTGGCTGCAAGTGCAACAGCAGTTGTGTACATTCTCAGGGGGCCTCCTCTTTCCAGTGTGCAGTGGAAACTGGCTGTAGTTTTGTCTTCCAGCCTGAATTCCAGGCCTAATTTGAGATGTGAGTTGTATCTGTAACCCAGTGCCCTTGAAGGTGAGGGCAGGCACTCAGCAGCCTCTCCAGGAAGGCTCACATCCTGGGAGGACTCACTGATTAGTTCTATTGTGTTCATTTGTCTGTGTCTTAAGCTGAAGGGAAGAGTTAAAACCAAGCCTTTCCCTGGGGGTCTGGATGAACAGAACTCAACCCAAAGAGTGGCATTGCCTTGTCCTTGGAGCAGGGAGCTGGGACCCCCCTTGGACTTTGAAAACCAGTGTTTTCAGAATGCAGGTGGATAACAAGCCTAAATTTACTTCTGGGCTGAGGAGAGATCTTTGAGGCTCCTGGAAGGAAACTTGGTGATAAGCCTCCAGTTTGAAACGGCTCTGTCCCTTTAATGTCTGTGCCTTGACAGCTTTTGGTGAGGAAGCACTTCCTTCCAACAGCTGTCTTCTTGGCAGAAAACCAAAACATTGGCTTAAAGGGACCCACAGACTGGAACAGCCTCACATTTCGGCTTTAGAACAAATCCCACAATTGTTCAGCTTTCCGGTCCCCTTCAGATCAAGCAGAAGATATGTTTTGATTTTCATGCTTGTATTTTAAACAA
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Task1_train_3121
|
Given this context: Chromosome 2, gene MYCN, MYCNOS (MYCN proto-oncogene, bHLH transcription factor| MYCN opposite strand) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Megalencephaly-polydactyly syndrome
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TTTTTTTTCTTTTAATGACAAGCAATTGCCAGGCTCGCAGGGTGGGTGCTGCATTGCACCGCTCCGCGCGCAGCTGGTTCTCAGAGTGCAGCCGGTGCAAGCCCGGGGGTCCAAAAGGGCGGGAGGAGCACACCCTGGGCTTCCCAGCTTTGCAGCCTTCTCTCTGCAAAGAAAAGCAAGTGGCTTTTGGCGCGAAAGCCTTGGCGCCTCCCCTGATTTTTATGGAAATCAGGAGGGCGGGGTAAAGCCGCTTTCCTCTCCTTTCTCCCTCCCCCTTGTCTGCGCCACAGCCCCCTTCTCTCCCCGCCCCCCGGGTGTGTCAGATTTTTCAGTTAATAATATCCCCCGAGCTTCAAAGCGCAGGCTGTGACAGTCATCTGTCTGGACGCGCTGGGTGGATGCGGGGGGCTCCTGGGAACTGTGTTGGAGCCGAGCAAGCGCTAGCCAGGCGCAAGCGCGCACAGACTGTAGCCATCCGAGGACACCCCCGCCCCCCCGGCCCACCCGGAGACACCCGCGCAGAATCGCCTCCGGATCCCCTGCAGTCGGCGGGAGGTAAGGAGCAGGGCTTGCAAACCGCCCGGCGCCCAGGGAAGCGACGAGCGCCGGGGCAAGGCAAGCCCTGGACGGGATTGCGACGTGCGCACCGGGCGCCCTAATATGCCCGGGGGACTGTTTCTGCTTCCGAAACAAAACCATCTCTGGGTTTTCCCAGAAAAGCCAGTTCCAGCCCCGAAGGCATCCTGGCTAGAGGAGACCCGCCCTAATCCTTTTGCAGCCCTTACCGGGGGGAGTAATGGCTTCTGCGAAAAGAAATTCCCTCGGCTCTAGAAGATCTGTCTGTGTTTGAGCTGTCGGAGAGCCGGTGCGTCCCCACCCCAGGCTGGGGTTCTTCTCCAAAGGGTGCCCCTGGAGGAAGAAGAGGGGGGGATTAGGCAGGGCGAGGCCGCCGCGGTCGCAATCTGGGTCACGGCTGCTCCAGCTTGGAGGAGAGGCGGCTCTCCCGGCGACCCTCCTCGCGCGGGCGCCCCTGCCATTCCCGGGAACAGGGGCTCAGCCTCTCCCTCCCTGGAAGAGGACGTTGTCGTGGGTTTGGAAGAGCAGGGGTGGGCTTAGAGAGCTTCCAATTAAGCTATTGGCAGGAGTATCCCTGCAGCGGGTGAATGCCGAGGGGCGTTTGCTCAAATTTGGGGAGGGGAAGGATTTGTGGATATGGGTGTCTGTTGTTGGTCTCTGTCTAGAGAAAGGCTTTTTTTTATTTGCAAAGTTTTCTAAATCCCCTGCTATCATTTGCACTCCTGAGGTTGCATTTTTACAAAGGGGGTAGAAGGTACTCCAAATACCATTCCCGGTAGCTGGGTCGGAGAGCCTGGGGCTTCCCCTGAGCAGCCGGCCCCACACCGCTGCGAGTGCGGTTGTCTGCGTGCTCGTGAGAGCTAGAATTCTGCAGCCAGGAACAGCCCCCTCCCCCAGGCAGTGCCTTGTGTGAATGAAATGGCAGTTTCCAAAGTTGCGGAGCCTCGCCACCACCCCCTGCATCTGCATGCCCCCTCCCACCCCCTGTCGTAGACAGCTTGTACACAAAAGGAGGGCGGGAGGGAGGGAGCGAGAGGCACAACTTCCTCCACCTTCGGGAGCAGTGGGCAGAGTGGGGGGCTTGGAGGGAAGATTGGGGAACCTGGTTAGAGGGGGCGCCCATTGCCTATCCCCTCGGTCTGCCCCGTTTGCCCACCCTCTCCGGTGTGTCTGTCGGTTGCAGTGTTGGAGGTCGGCGCCGGCCCCCGCCTTCCGCGCCCCCCACGGGAAGGAAGCACCCCCGGTATTAAAACGAACGGGGCGGAAAGAAGCCCTCAGTCGCCGGCCGGGAGGCGAGCCGATGCCGAGCTGCTCCACGTCCACCATGCCGGGCATGATCTGCAAGAACCCAGACCTCGAGTTTGACTCGCTACAGCCCTGCTTCTACCCGGACGAAGATGACTTCTACTTCGGCGGCCCCGACTCGACCCCCCCGGGGGAGGACATCTGGAAGAAGTTTGAGCTGCTGCCCACGCCCCCGCTGTCGCCCAGCCGTGGCTTCGCGGAGCACAGCTCCGAGCCCCCGAGCTGGGTCACGGAGATGCTGCTTGAGAACGAGCTGTGGGGCAGCCCGGCCGAGGAGGACGCGTTCGGCCTGGGGGGACTGGGTGGCCTCACCCCCAACCCGGTCATCCTCCAGGACTGCATGTGGAGCGGCTTCTCCGCCCGCGAGAAGCTGGAGCGCGCCGTGAGCGAGAAGCTGCAGCACGGCCGCGGGCCGCCAACCGCCGGTTCCACCGCCCAGTCCCCGGGAGCCGGCGCCGCCAGCCCTGCGGGTCGCGGGCACGGCGGGGCTGCGGGAGCCGGCCGCGCCGGGGCCGCCCTGCCCGCCGAGCTCGCCCACCCGGCCGCCGAGTGCGTGGATCCCGCCGTGGTCTTCCCCTTTCCCGTGAACAAGCGCGAGCCAGCGCCCGTGCCCGCAGCCCCGGCCAGTGCCCCGGCGGCGGGCCCTGCGGTCGCCTCGGGGGCGGGTATTGCCGCCCCAGCCGGGGCCCCGGGGGTCGCCCCTCCGCGCCCAGGCGGCCGCCAGACCAGCGGCGGCGACCACAAGGCCCTCAGTACCTCCGGAGAGGACACCCTGAGCGATTCAGGTAAAGACCGAACTCGGGTCCGGCTGCCTCCCTGGGGCACTGGACCCCGGGTCGCGTCCCCTTTGTTAGTGCTCGTATGTCTTGGCCTGGGGAGCATTTTGGAGGCAGTGCTAGGGGCAGAGAGGTCCTGTTTCCCCCAAGTCTCTCCTCGGGGTAAAGAGAAGGGGCTGAGAGAATGCCGTTGCAAAAGGGGTGCTCTCCAATTCTCGCCTTCACTAAAGTTCCTTCCACCCTCTCCTGGGGAGCCCTCCTCTAGGCCATCACGGGCCCTCACCCGGTCCCCCACCTCTCTTTTGCAGCGCAGTCTGAGGAATAAAATTGGAGAAAGTTGGTGGCTAAACCGGGTGGGGGTTTAGGGGGTTGCTGGGTGCACTGCCTGGACAGAAACCTGTTAGCGCAGGGGTGAAAGGGACTCTCTGGCCCAGGTCAGGGGAGGGAAAGACATCCCGAGAAGATTCAAGGGCTGTGCAAAGCCCTGTTTAAGGCGCAGGAACTTATAGGAGGGTTGCACAGATGGCTAGAGCCGATTTTCTATTCTTTTTCTTTTTCTTTTTTTTTTTTTTTCAAATGTCGGTACCTTTCCCTTCCCCCATCCTCGGTGGGTGGTGGGCTATTTGCTCCTGGTGCGTGGCCAGCAGGCGGCGATATGCGAGGCCAGCAGGCGGGCCCGGGATCTGAAAGGCTGGGGGTGGTGGGGGCACCCTCCCTCCCTCCATTCAGCAGCTGGCTGCAAGTGCAACAGCAGTTGTGTACATTCTCAGGGGGCCTCCTCTTTCCAGTGTGCAGTGGAAACTGGCTGTAGTTTTGTCTTCCAGCCTGAATTCCAGGCCTAATTTGAGATGTGAGTTGTATCTGTAACCCAGTGCCCTTGAAGGTGAGGGCAGGCACTCAGCAGCCTCTCCAGGAAGGCTCACATCCTGGGAGGACTCACTGATTAGTTCTATTGTGTTCATTTGTCTGTGTCTTAAGCTGAAGGGAAGAGTTAAAACCAAGCCTTTCCCTGGGGGTCTGGATGAACAGAACTCAACCCAAAGAGTGGCATTGCCTTGTCCTTGGAGCAGGGAGCTGGGACCCCCCTTGGACTTTGAAAACCAGTGTTTTCAGAATGCAGGTGGATAACAAGCCTAAATTTACTTCTGGGCTGAGGAGAGATCTTTGAGGCTCCTGGAAGGAAACTTGGTGATAAGCCTCCAGTTTGAAACGGCTCTGTCCCTTTAATGTCTGTGCCTTGACAGCTTTTGGTGAGGAAGCACTTCCTTCCAACAGCTGTCTTCTTGGCAGAAAACCAAAACATTGGCTTAAAGGGACCCACAGACTGGAACAGCCTCACATTTCGGCTTTAGAACAAATCCCACAATTGTTCAGCTTTCCGGTCCCCTTCAGATCAAGCAGAAGATATGTTTTGATTTTCATGCTTGTATTTTAAACAA
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TTTTTTTTCTTTTAATGACAAGCAATTGCCAGGCTCGCAGGGTGGGTGCTGCATTGCACCGCTCCGCGCGCAGCTGGTTCTCAGAGTGCAGCCGGTGCAAGCCCGGGGGTCCAAAAGGGCGGGAGGAGCACACCCTGGGCTTCCCAGCTTTGCAGCCTTCTCTCTGCAAAGAAAAGCAAGTGGCTTTTGGCGCGAAAGCCTTGGCGCCTCCCCTGATTTTTATGGAAATCAGGAGGGCGGGGTAAAGCCGCTTTCCTCTCCTTTCTCCCTCCCCCTTGTCTGCGCCACAGCCCCCTTCTCTCCCCGCCCCCCGGGTGTGTCAGATTTTTCAGTTAATAATATCCCCCGAGCTTCAAAGCGCAGGCTGTGACAGTCATCTGTCTGGACGCGCTGGGTGGATGCGGGGGGCTCCTGGGAACTGTGTTGGAGCCGAGCAAGCGCTAGCCAGGCGCAAGCGCGCACAGACTGTAGCCATCCGAGGACACCCCCGCCCCCCCGGCCCACCCGGAGACACCCGCGCAGAATCGCCTCCGGATCCCCTGCAGTCGGCGGGAGGTAAGGAGCAGGGCTTGCAAACCGCCCGGCGCCCAGGGAAGCGACGAGCGCCGGGGCAAGGCAAGCCCTGGACGGGATTGCGACGTGCGCACCGGGCGCCCTAATATGCCCGGGGGACTGTTTCTGCTTCCGAAACAAAACCATCTCTGGGTTTTCCCAGAAAAGCCAGTTCCAGCCCCGAAGGCATCCTGGCTAGAGGAGACCCGCCCTAATCCTTTTGCAGCCCTTACCGGGGGGAGTAATGGCTTCTGCGAAAAGAAATTCCCTCGGCTCTAGAAGATCTGTCTGTGTTTGAGCTGTCGGAGAGCCGGTGCGTCCCCACCCCAGGCTGGGGTTCTTCTCCAAAGGGTGCCCCTGGAGGAAGAAGAGGGGGGGATTAGGCAGGGCGAGGCCGCCGCGGTCGCAATCTGGGTCACGGCTGCTCCAGCTTGGAGGAGAGGCGGCTCTCCCGGCGACCCTCCTCGCGCGGGCGCCCCTGCCATTCCCGGGAACAGGGGCTCAGCCTCTCCCTCCCTGGAAGAGGACGTTGTCGTGGGTTTGGAAGAGCAGGGGTGGGCTTAGAGAGCTTCCAATTAAGCTATTGGCAGGAGTATCCCTGCAGCGGGTGAATGCCGAGGGGCGTTTGCTCAAATTTGGGGAGGGGAAGGATTTGTGGATATGGGTGTCTGTTGTTGGTCTCTGTCTAGAGAAAGGCTTTTTTTTATTTGCAAAGTTTTCTAAATCCCCTGCTATCATTTGCACTCCTGAGGTTGCATTTTTACAAAGGGGGTAGAAGGTACTCCAAATACCATTCCCGGTAGCTGGGTCGGAGAGCCTGGGGCTTCCCCTGAGCAGCCGGCCCCACACCGCTGCGAGTGCGGTTGTCTGCGTGCTCGTGAGAGCTAGAATTCTGCAGCCAGGAACAGCCCCCTCCCCCAGGCAGTGCCTTGTGTGAATGAAATGGCAGTTTCCAAAGTTGCGGAGCCTCGCCACCACCCCCTGCATCTGCATGCCCCCTCCCACCCCCTGTCGTAGACAGCTTGTACACAAAAGGAGGGCGGGAGGGAGGGAGCGAGAGGCACAACTTCCTCCACCTTCGGGAGCAGTGGGCAGAGTGGGGGGCTTGGAGGGAAGATTGGGGAACCTGGTTAGAGGGGGCGCCCATTGCCTATCCCCTCGGTCTGCCCCGTTTGCCCACCCTCTCCGGTGTGTCTGTCGGTTGCAGTGTTGGAGGTCGGCGCCGGCCCCCGCCTTCCGCGCCCCCCACGGGAAGGAAGCACCCCCGGTATTAAAACGAACGGGGCGGAAAGAAGCCCTCAGTCGCCGGCCGGGAGGCGAGCCGATGCCGAGCTGCTCCACGTCCACCATGCCGGGCATGATCTGCAAGAACCCAGACCTCGAGTTTGACTCGCTACAGCCCTGCTTCTACCCGGACGAAGATGACTTCTACTTCGGCGGCCCCGACTCGACCCCCCCGGGGGAGGACATCTGGAAGAAGTTTGAGCTGCTGCCCATGCCCCCGCTGTCGCCCAGCCGTGGCTTCGCGGAGCACAGCTCCGAGCCCCCGAGCTGGGTCACGGAGATGCTGCTTGAGAACGAGCTGTGGGGCAGCCCGGCCGAGGAGGACGCGTTCGGCCTGGGGGGACTGGGTGGCCTCACCCCCAACCCGGTCATCCTCCAGGACTGCATGTGGAGCGGCTTCTCCGCCCGCGAGAAGCTGGAGCGCGCCGTGAGCGAGAAGCTGCAGCACGGCCGCGGGCCGCCAACCGCCGGTTCCACCGCCCAGTCCCCGGGAGCCGGCGCCGCCAGCCCTGCGGGTCGCGGGCACGGCGGGGCTGCGGGAGCCGGCCGCGCCGGGGCCGCCCTGCCCGCCGAGCTCGCCCACCCGGCCGCCGAGTGCGTGGATCCCGCCGTGGTCTTCCCCTTTCCCGTGAACAAGCGCGAGCCAGCGCCCGTGCCCGCAGCCCCGGCCAGTGCCCCGGCGGCGGGCCCTGCGGTCGCCTCGGGGGCGGGTATTGCCGCCCCAGCCGGGGCCCCGGGGGTCGCCCCTCCGCGCCCAGGCGGCCGCCAGACCAGCGGCGGCGACCACAAGGCCCTCAGTACCTCCGGAGAGGACACCCTGAGCGATTCAGGTAAAGACCGAACTCGGGTCCGGCTGCCTCCCTGGGGCACTGGACCCCGGGTCGCGTCCCCTTTGTTAGTGCTCGTATGTCTTGGCCTGGGGAGCATTTTGGAGGCAGTGCTAGGGGCAGAGAGGTCCTGTTTCCCCCAAGTCTCTCCTCGGGGTAAAGAGAAGGGGCTGAGAGAATGCCGTTGCAAAAGGGGTGCTCTCCAATTCTCGCCTTCACTAAAGTTCCTTCCACCCTCTCCTGGGGAGCCCTCCTCTAGGCCATCACGGGCCCTCACCCGGTCCCCCACCTCTCTTTTGCAGCGCAGTCTGAGGAATAAAATTGGAGAAAGTTGGTGGCTAAACCGGGTGGGGGTTTAGGGGGTTGCTGGGTGCACTGCCTGGACAGAAACCTGTTAGCGCAGGGGTGAAAGGGACTCTCTGGCCCAGGTCAGGGGAGGGAAAGACATCCCGAGAAGATTCAAGGGCTGTGCAAAGCCCTGTTTAAGGCGCAGGAACTTATAGGAGGGTTGCACAGATGGCTAGAGCCGATTTTCTATTCTTTTTCTTTTTCTTTTTTTTTTTTTTTCAAATGTCGGTACCTTTCCCTTCCCCCATCCTCGGTGGGTGGTGGGCTATTTGCTCCTGGTGCGTGGCCAGCAGGCGGCGATATGCGAGGCCAGCAGGCGGGCCCGGGATCTGAAAGGCTGGGGGTGGTGGGGGCACCCTCCCTCCCTCCATTCAGCAGCTGGCTGCAAGTGCAACAGCAGTTGTGTACATTCTCAGGGGGCCTCCTCTTTCCAGTGTGCAGTGGAAACTGGCTGTAGTTTTGTCTTCCAGCCTGAATTCCAGGCCTAATTTGAGATGTGAGTTGTATCTGTAACCCAGTGCCCTTGAAGGTGAGGGCAGGCACTCAGCAGCCTCTCCAGGAAGGCTCACATCCTGGGAGGACTCACTGATTAGTTCTATTGTGTTCATTTGTCTGTGTCTTAAGCTGAAGGGAAGAGTTAAAACCAAGCCTTTCCCTGGGGGTCTGGATGAACAGAACTCAACCCAAAGAGTGGCATTGCCTTGTCCTTGGAGCAGGGAGCTGGGACCCCCCTTGGACTTTGAAAACCAGTGTTTTCAGAATGCAGGTGGATAACAAGCCTAAATTTACTTCTGGGCTGAGGAGAGATCTTTGAGGCTCCTGGAAGGAAACTTGGTGATAAGCCTCCAGTTTGAAACGGCTCTGTCCCTTTAATGTCTGTGCCTTGACAGCTTTTGGTGAGGAAGCACTTCCTTCCAACAGCTGTCTTCTTGGCAGAAAACCAAAACATTGGCTTAAAGGGACCCACAGACTGGAACAGCCTCACATTTCGGCTTTAGAACAAATCCCACAATTGTTCAGCTTTCCGGTCCCCTTCAGATCAAGCAGAAGATATGTTTTGATTTTCATGCTTGTATTTTAAACAA
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Task1_train_3122
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This sequence variant lies in MYCN (MYCN proto-oncogene, bHLH transcription factor) on Chromosome 2. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; not provided
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TGTGTTCATTTGTCTGTGTCTTAAGCTGAAGGGAAGAGTTAAAACCAAGCCTTTCCCTGGGGGTCTGGATGAACAGAACTCAACCCAAAGAGTGGCATTGCCTTGTCCTTGGAGCAGGGAGCTGGGACCCCCCTTGGACTTTGAAAACCAGTGTTTTCAGAATGCAGGTGGATAACAAGCCTAAATTTACTTCTGGGCTGAGGAGAGATCTTTGAGGCTCCTGGAAGGAAACTTGGTGATAAGCCTCCAGTTTGAAACGGCTCTGTCCCTTTAATGTCTGTGCCTTGACAGCTTTTGGTGAGGAAGCACTTCCTTCCAACAGCTGTCTTCTTGGCAGAAAACCAAAACATTGGCTTAAAGGGACCCACAGACTGGAACAGCCTCACATTTCGGCTTTAGAACAAATCCCACAATTGTTCAGCTTTCCGGTCCCCTTCAGATCAAGCAGAAGATATGTTTTGATTTTCATGCTTGTATTTTAAACAATAATTTTCTACCCCAGCGTGGTAGTCAATGAGGAGAGAGGGGAAGAATGCGCACATGATGCTACACGTTTCTGTTGTTGCTGTTATTATTGGTGGCTTTGAGGAGAGCTGCTCCCATTTGGGGGTTTATACCAACTGTGGATTATGGCTTTGTCATTAAGATTTGATCTTTGTTAAATGAAAAACTGTTTATTGTATAAAACTCAGGTTTGTGGACGAAAAGTTGTTTTTTTTCTTCAGTTAATTAAATTGTTCCTCAAGTTTGTTTAAGGACTTAAAATCAAACACAACCATGTGTAAACTGCTAAATGAGGCTCCTAAAATGAGAGGCCTCAACTCTTTAAGTGTGGAGCTAGAAATGTAAATAAGTCCACAGGGCAGACTGGTGATTATGATAAAAGCTACCATTTACTGAGCATCTGTCTACTAGGCTCAGCTCTATGCTAAGTCTACATGTTATCTGTCAAAGTGGTATCATCCCCATTTAATAGCTGAGGAAACAGAGGCTTAGAAAGGCTGGGTAACTTGACCAGGGTCATGCAACTAGTCTGCGGTGGAGCCAGGATTCTGTCTGACCCTAAAGGCCAAGTTCTTTATATTTATTTCTACCACCTGCTAAAGTCTTGAATGGAGGCTGAAAGCACAGTTGGGGTATGGGGAAGAAAAATATATATACATACATATATGTATATGTATGTATGTATGTATGGGGGGTTGTTTTGTTTTTGTTTTTGATAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGTATGATCTGGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACCGGAGCATGCCACCACACCCAGCAAAGTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTCATCTCAGGTGATCTGCCCGCCTCCGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGTCACCGCGTCCGGCCTACAGATATATTTAATTTAAAGAGATCTAAAACAAATACAAAACTGTCCACATCTATGTTGATGGACCCATAAAAATAGCAGTCTGCCAGGGTCTGCCGGAAGAGACAGATAAGCATACATATTAACATGGATATATATGTGAATTTCATTCAAATGGTTCTCACATGAGAGTAACTAGCATCTTTCTCTCAGATGATGAAGATGATGAAGAGGAAGATGAAGAGGAAGAAATCGACGTGGTCACTGTGGAGAAGCGGCGTTCCTCCTCCAACACCAAGGCTGTCACCACATTCACCATCACTGTGCGTCCCAAGAACGCAGCCCTGGGTCCCGGGAGGGCTCAGTCCAGCGAGCTGATCCTCAAACGATGCCTTCCCATCCACCAGCAGCACAACTATGCCGCCCCCTCTCCCTACGTGGAGAGTGAGGATGCACCCCCACAGAAGAAGATAAAGAGCGAGGCGTCCCCACGTCCGCTCAAGAGTGTCATCCCCCCAAAGGCTAAGAGCTTGAGCCCCCGAAACTCTGACTCGGAGGACAGTGAGCGTCGCAGAAACCACAACATCCTGGAGCGCCAGCGCCGCAACGACCTTCGGTCCAGCTTTCTCACGCTCAGGGACCACGTGCCGGAGTTGGTAAAGAATGAGAAGGCCGCCAAGGTGGTCATTTTGAAAAAGGCCACTGAGTATGTCCACTCCCTCCAGGCCGAGGAGCACCAGCTTTTGCTGGAAAAGGAAAAATTGCAGGCAAGACAGCAGCAGTTGCTAAAGAAAATTGAACACGCTCGGACTTGCTAGACGCTTCTCAAAACTGGACAGTCACTGCCACTTTGCACATTTTGATTTTTTTTTTAAACAAACATTGTGTTGACATTAAGAATGTTGGTTTACTTTCAAATCGGTCCCCTGTCGAGTTCGGCTCTGGGTGGGCAGTAGGACCACCAGTGTGGGGTTCTGCTGGGACCTTGGAGAGCCTGCATCCCAGGATGCTGGGTGGCCCTGCAGCCTCCTCCACCTCACCTCCATGACAGCGCTAAACGTTGGTGACGGTTGGGAGCCTCTGGGGCTGTTGAAGTCACCTTGTGTGTTCCAAGTTTCCAAACAACAGAAAGTCATTCCTTCTTTTTAAAATGGTGCTTAAGTTCCAGCAGATGCCACATAAGGGGTTTGCCATTTGATACCCCTGGGGAACATTTCTGTAAATACCATTGACACATCCGCCTTTTGTATACATCCTGGGTAATGAGAGGTGGCTTTTGCGGCCAGTATTAGACTGGAAGTTCATACCTAAGTACTGTAATAATACCTCAATGTTTGAGGAGCATGTTTTGTATACAAATATATTGTTAATCTCTGTTATGTACTGTACTAATTCTTACACTGCCTGTATACTTTAGTATGACGCTGATACATAACTAAATTTGATACTTATATTTTCGTATGAAAATGAGTTGTGAAAGTTTTGAGTAGATATTACTTTATCACTTTTTGAACTAAGAAACTTTTGTAAAGAAATTTACTATATATATATGCCTTTTTCCTAGCCTGTTTCTTCCTGTTAATGTATTTGTTCATGTTTGGTGCATAGAACTGGGTAAATGCAAAGTTCTGTGTTTAATTTCTTCAAAATGTATATATTTAGTGCTGCATCTTATAGCACTTTGAAATACCTCATGTTTATGAAAATAAATAGCTTAAAATTAAATGATGCAACTCAACCTTTTCCTTAATGGCATTACACTCTGTCCCTTAAGGAGCAACCATAAATAATCCATAACCTATAGAGGGAATTTGGTTTCCGTAAATAGCCCTTTTTGCACCTGTACAATCCTGGTTGGGGGGCATGAGTCATTGTCCCCACTTAAGGTGGAGGGAACTGAGTTTGGGGAAATTAAGGCAGTTCTCCAAGATTATGCAGAATAGAGATGTTATTAGCGACTATTGTGTGCATTGTAGCAATGGCATTTGATAATTTACAGAGCACTTCTGTATACTGTGGCTCCTTAGTGGAATTAAGCTGAGACCTCAGATCAGTCCCTTTAAAAGAAAAGTAAAAATAGCCACAGGGTTGTTTAACTCGCTTGTATTGGGCTTTGGTAGTATTCGTCCCATTGGCAGACAGTCTTCTATTTTAAGGTAGAGCATAGTTTGTCTCCAAGAATTCATTGTTAAAAACATTCACTAGGATCTGTGGAGGTTCTAGGCTAAGCAGAGTAAGCAGAATAAACAGATGGAAATGGGTTCCTCCCTTCAATGAACTCAACCTGATTCACCAAAGTGTAATTCACGAGTGACAGTTACGTAGTCCAGAGCAAGTACCAGGTGCAGGAGAGACCCTGGGGTCACAATGGAGACCCCATATGGGTGGCATGGCTCTCTACTTGCCATTCCTATTACACAGCAGTGTCTTGGCTACTTGGGCTGCCCTTTGGAAATGGGATCAATCTTGCAGGCTCCAGAAGACAGAGCCAAGACTTGTGTGTTAAGGAGATAGTTTACCTGTTGGGACATAAGAGCCTTGCTTGTAAGCAGCTTCTCAGAACTAAAAGTGTACAAATAACCTATTTCTCTTTTGAGTGTCAGGTTGTACTCGGT
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TGTGTTCATTTGTCTGTGTCTTAAGCTGAAGGGAAGAGTTAAAACCAAGCCTTTCCCTGGGGGTCTGGATGAACAGAACTCAACCCAAAGAGTGGCATTGCCTTGTCCTTGGAGCAGGGAGCTGGGACCCCCCTTGGACTTTGAAAACCAGTGTTTTCAGAATGCAGGTGGATAACAAGCCTAAATTTACTTCTGGGCTGAGGAGAGATCTTTGAGGCTCCTGGAAGGAAACTTGGTGATAAGCCTCCAGTTTGAAACGGCTCTGTCCCTTTAATGTCTGTGCCTTGACAGCTTTTGGTGAGGAAGCACTTCCTTCCAACAGCTGTCTTCTTGGCAGAAAACCAAAACATTGGCTTAAAGGGACCCACAGACTGGAACAGCCTCACATTTCGGCTTTAGAACAAATCCCACAATTGTTCAGCTTTCCGGTCCCCTTCAGATCAAGCAGAAGATATGTTTTGATTTTCATGCTTGTATTTTAAACAATAATTTTCTACCCCAGCGTGGTAGTCAATGAGGAGAGAGGGGAAGAATGCGCACATGATGCTACACGTTTCTGTTGTTGCTGTTATTATTGGTGGCTTTGAGGAGAGCTGCTCCCATTTGGGGGTTTATACCAACTGTGGATTATGGCTTTGTCATTAAGATTTGATCTTTGTTAAATGAAAAACTGTTTATTGTATAAAACTCAGGTTTGTGGACGAAAAGTTGTTTTTTTTCTTCAGTTAATTAAATTGTTCCTCAAGTTTGTTTAAGGACTTAAAATCAAACACAACCATGTGTAAACTGCTAAATGAGGCTCCTAAAATGAGAGGCCTCAACTCTTTAAGTGTGGAGCTAGAAATGTAAATAAGTCCACAGGGCAGACTGGTGATTATGATAAAAGCTACCATTTACTGAGCATCTGTCTACTAGGCTCAGCTCTATGCTAAGTCTACATGTTATCTGTCAAAGTGGTATCATCCCCATTTAATAGCTGAGGAAACAGAGGCTTAGAAAGGCTGGGTAACTTGACCAGGGTCATGCAACTAGTCTGCGGTGGAGCCAGGATTCTGTCTGACCCTAAAGGCCAAGTTCTTTATATTTATTTCTACCACCTGCTAAAGTCTTGAATGGAGGCTGAAAGCACAGTTGGGGTATGGGGAAGAAAAATATATATACATACATATATGTATATGTATGTATGTATGTATGGGGGGTTGTTTTGTTTTTGTTTTTGATAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGTATGATCTGGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACCGGAGCATGCCACCACACCCAGCAAAGTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTCATCTCAGGTGATCTGCCCGCCTCCGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGTCACCGCGTCCGGCCTACAGATATATTTAATTTAAAGAGATCTAAAACAAATACAAAACTGTCCACATCTATGTTGATGGACCCATAAAAATAGCAGTCTGCCAGGGTCTGCCGGAAGAGACAGATAAGCATACATATTAACATGGATATATATGTGAATTTCATTCAAATGGTTCTCACATGAGAGTAACTAGCATCTTTCTCTCAGATGATGAAGATGATGAAGAGGAAGATGAAGAGGAAGAAATCGACGTGGTCACTGTGGAGAAGCGGCGTTCCTCCTCCAACACCAAGGCTGTCACCACATTCACCATCACTGTGCGTCCCAAGAACGCAGCCCTGGGTCCCGGGAGGGCTCAGTCCAGCGAGCTGATCCTCAAACGATGCCTTCCCATCCACCAGCAGCACAACTATGCCGCCCCCTCTCCCTACGTGGAGAGTGAGGATGCACCCCCACAGAAGAAGATAAAGAGCGAGGCGTCCCCACGTCCGCTCAAGAGTGTCATCCCCCCAAAGGCTAAGAGCTTGAGCCCCCGAAACTCTGACTCGGAGGACAGTGAGCATCGCAGAAACCACAACATCCTGGAGCGCCAGCGCCGCAACGACCTTCGGTCCAGCTTTCTCACGCTCAGGGACCACGTGCCGGAGTTGGTAAAGAATGAGAAGGCCGCCAAGGTGGTCATTTTGAAAAAGGCCACTGAGTATGTCCACTCCCTCCAGGCCGAGGAGCACCAGCTTTTGCTGGAAAAGGAAAAATTGCAGGCAAGACAGCAGCAGTTGCTAAAGAAAATTGAACACGCTCGGACTTGCTAGACGCTTCTCAAAACTGGACAGTCACTGCCACTTTGCACATTTTGATTTTTTTTTTAAACAAACATTGTGTTGACATTAAGAATGTTGGTTTACTTTCAAATCGGTCCCCTGTCGAGTTCGGCTCTGGGTGGGCAGTAGGACCACCAGTGTGGGGTTCTGCTGGGACCTTGGAGAGCCTGCATCCCAGGATGCTGGGTGGCCCTGCAGCCTCCTCCACCTCACCTCCATGACAGCGCTAAACGTTGGTGACGGTTGGGAGCCTCTGGGGCTGTTGAAGTCACCTTGTGTGTTCCAAGTTTCCAAACAACAGAAAGTCATTCCTTCTTTTTAAAATGGTGCTTAAGTTCCAGCAGATGCCACATAAGGGGTTTGCCATTTGATACCCCTGGGGAACATTTCTGTAAATACCATTGACACATCCGCCTTTTGTATACATCCTGGGTAATGAGAGGTGGCTTTTGCGGCCAGTATTAGACTGGAAGTTCATACCTAAGTACTGTAATAATACCTCAATGTTTGAGGAGCATGTTTTGTATACAAATATATTGTTAATCTCTGTTATGTACTGTACTAATTCTTACACTGCCTGTATACTTTAGTATGACGCTGATACATAACTAAATTTGATACTTATATTTTCGTATGAAAATGAGTTGTGAAAGTTTTGAGTAGATATTACTTTATCACTTTTTGAACTAAGAAACTTTTGTAAAGAAATTTACTATATATATATGCCTTTTTCCTAGCCTGTTTCTTCCTGTTAATGTATTTGTTCATGTTTGGTGCATAGAACTGGGTAAATGCAAAGTTCTGTGTTTAATTTCTTCAAAATGTATATATTTAGTGCTGCATCTTATAGCACTTTGAAATACCTCATGTTTATGAAAATAAATAGCTTAAAATTAAATGATGCAACTCAACCTTTTCCTTAATGGCATTACACTCTGTCCCTTAAGGAGCAACCATAAATAATCCATAACCTATAGAGGGAATTTGGTTTCCGTAAATAGCCCTTTTTGCACCTGTACAATCCTGGTTGGGGGGCATGAGTCATTGTCCCCACTTAAGGTGGAGGGAACTGAGTTTGGGGAAATTAAGGCAGTTCTCCAAGATTATGCAGAATAGAGATGTTATTAGCGACTATTGTGTGCATTGTAGCAATGGCATTTGATAATTTACAGAGCACTTCTGTATACTGTGGCTCCTTAGTGGAATTAAGCTGAGACCTCAGATCAGTCCCTTTAAAAGAAAAGTAAAAATAGCCACAGGGTTGTTTAACTCGCTTGTATTGGGCTTTGGTAGTATTCGTCCCATTGGCAGACAGTCTTCTATTTTAAGGTAGAGCATAGTTTGTCTCCAAGAATTCATTGTTAAAAACATTCACTAGGATCTGTGGAGGTTCTAGGCTAAGCAGAGTAAGCAGAATAAACAGATGGAAATGGGTTCCTCCCTTCAATGAACTCAACCTGATTCACCAAAGTGTAATTCACGAGTGACAGTTACGTAGTCCAGAGCAAGTACCAGGTGCAGGAGAGACCCTGGGGTCACAATGGAGACCCCATATGGGTGGCATGGCTCTCTACTTGCCATTCCTATTACACAGCAGTGTCTTGGCTACTTGGGCTGCCCTTTGGAAATGGGATCAATCTTGCAGGCTCCAGAAGACAGAGCCAAGACTTGTGTGTTAAGGAGATAGTTTACCTGTTGGGACATAAGAGCCTTGCTTGTAAGCAGCTTCTCAGAACTAAAAGTGTACAAATAACCTATTTCTCTTTTGAGTGTCAGGTTGTACTCGGT
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Task1_train_3123
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This genomic variant is located on Chromosome 2, within the MYCN (MYCN proto-oncogene, bHLH transcription factor) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Feingold syndrome type 1
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GAAGAGTTAAAACCAAGCCTTTCCCTGGGGGTCTGGATGAACAGAACTCAACCCAAAGAGTGGCATTGCCTTGTCCTTGGAGCAGGGAGCTGGGACCCCCCTTGGACTTTGAAAACCAGTGTTTTCAGAATGCAGGTGGATAACAAGCCTAAATTTACTTCTGGGCTGAGGAGAGATCTTTGAGGCTCCTGGAAGGAAACTTGGTGATAAGCCTCCAGTTTGAAACGGCTCTGTCCCTTTAATGTCTGTGCCTTGACAGCTTTTGGTGAGGAAGCACTTCCTTCCAACAGCTGTCTTCTTGGCAGAAAACCAAAACATTGGCTTAAAGGGACCCACAGACTGGAACAGCCTCACATTTCGGCTTTAGAACAAATCCCACAATTGTTCAGCTTTCCGGTCCCCTTCAGATCAAGCAGAAGATATGTTTTGATTTTCATGCTTGTATTTTAAACAATAATTTTCTACCCCAGCGTGGTAGTCAATGAGGAGAGAGGGGAAGAATGCGCACATGATGCTACACGTTTCTGTTGTTGCTGTTATTATTGGTGGCTTTGAGGAGAGCTGCTCCCATTTGGGGGTTTATACCAACTGTGGATTATGGCTTTGTCATTAAGATTTGATCTTTGTTAAATGAAAAACTGTTTATTGTATAAAACTCAGGTTTGTGGACGAAAAGTTGTTTTTTTTCTTCAGTTAATTAAATTGTTCCTCAAGTTTGTTTAAGGACTTAAAATCAAACACAACCATGTGTAAACTGCTAAATGAGGCTCCTAAAATGAGAGGCCTCAACTCTTTAAGTGTGGAGCTAGAAATGTAAATAAGTCCACAGGGCAGACTGGTGATTATGATAAAAGCTACCATTTACTGAGCATCTGTCTACTAGGCTCAGCTCTATGCTAAGTCTACATGTTATCTGTCAAAGTGGTATCATCCCCATTTAATAGCTGAGGAAACAGAGGCTTAGAAAGGCTGGGTAACTTGACCAGGGTCATGCAACTAGTCTGCGGTGGAGCCAGGATTCTGTCTGACCCTAAAGGCCAAGTTCTTTATATTTATTTCTACCACCTGCTAAAGTCTTGAATGGAGGCTGAAAGCACAGTTGGGGTATGGGGAAGAAAAATATATATACATACATATATGTATATGTATGTATGTATGTATGGGGGGTTGTTTTGTTTTTGTTTTTGATAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGTATGATCTGGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACCGGAGCATGCCACCACACCCAGCAAAGTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTCATCTCAGGTGATCTGCCCGCCTCCGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGTCACCGCGTCCGGCCTACAGATATATTTAATTTAAAGAGATCTAAAACAAATACAAAACTGTCCACATCTATGTTGATGGACCCATAAAAATAGCAGTCTGCCAGGGTCTGCCGGAAGAGACAGATAAGCATACATATTAACATGGATATATATGTGAATTTCATTCAAATGGTTCTCACATGAGAGTAACTAGCATCTTTCTCTCAGATGATGAAGATGATGAAGAGGAAGATGAAGAGGAAGAAATCGACGTGGTCACTGTGGAGAAGCGGCGTTCCTCCTCCAACACCAAGGCTGTCACCACATTCACCATCACTGTGCGTCCCAAGAACGCAGCCCTGGGTCCCGGGAGGGCTCAGTCCAGCGAGCTGATCCTCAAACGATGCCTTCCCATCCACCAGCAGCACAACTATGCCGCCCCCTCTCCCTACGTGGAGAGTGAGGATGCACCCCCACAGAAGAAGATAAAGAGCGAGGCGTCCCCACGTCCGCTCAAGAGTGTCATCCCCCCAAAGGCTAAGAGCTTGAGCCCCCGAAACTCTGACTCGGAGGACAGTGAGCGTCGCAGAAACCACAACATCCTGGAGCGCCAGCGCCGCAACGACCTTCGGTCCAGCTTTCTCACGCTCAGGGACCACGTGCCGGAGTTGGTAAAGAATGAGAAGGCCGCCAAGGTGGTCATTTTGAAAAAGGCCACTGAGTATGTCCACTCCCTCCAGGCCGAGGAGCACCAGCTTTTGCTGGAAAAGGAAAAATTGCAGGCAAGACAGCAGCAGTTGCTAAAGAAAATTGAACACGCTCGGACTTGCTAGACGCTTCTCAAAACTGGACAGTCACTGCCACTTTGCACATTTTGATTTTTTTTTTAAACAAACATTGTGTTGACATTAAGAATGTTGGTTTACTTTCAAATCGGTCCCCTGTCGAGTTCGGCTCTGGGTGGGCAGTAGGACCACCAGTGTGGGGTTCTGCTGGGACCTTGGAGAGCCTGCATCCCAGGATGCTGGGTGGCCCTGCAGCCTCCTCCACCTCACCTCCATGACAGCGCTAAACGTTGGTGACGGTTGGGAGCCTCTGGGGCTGTTGAAGTCACCTTGTGTGTTCCAAGTTTCCAAACAACAGAAAGTCATTCCTTCTTTTTAAAATGGTGCTTAAGTTCCAGCAGATGCCACATAAGGGGTTTGCCATTTGATACCCCTGGGGAACATTTCTGTAAATACCATTGACACATCCGCCTTTTGTATACATCCTGGGTAATGAGAGGTGGCTTTTGCGGCCAGTATTAGACTGGAAGTTCATACCTAAGTACTGTAATAATACCTCAATGTTTGAGGAGCATGTTTTGTATACAAATATATTGTTAATCTCTGTTATGTACTGTACTAATTCTTACACTGCCTGTATACTTTAGTATGACGCTGATACATAACTAAATTTGATACTTATATTTTCGTATGAAAATGAGTTGTGAAAGTTTTGAGTAGATATTACTTTATCACTTTTTGAACTAAGAAACTTTTGTAAAGAAATTTACTATATATATATGCCTTTTTCCTAGCCTGTTTCTTCCTGTTAATGTATTTGTTCATGTTTGGTGCATAGAACTGGGTAAATGCAAAGTTCTGTGTTTAATTTCTTCAAAATGTATATATTTAGTGCTGCATCTTATAGCACTTTGAAATACCTCATGTTTATGAAAATAAATAGCTTAAAATTAAATGATGCAACTCAACCTTTTCCTTAATGGCATTACACTCTGTCCCTTAAGGAGCAACCATAAATAATCCATAACCTATAGAGGGAATTTGGTTTCCGTAAATAGCCCTTTTTGCACCTGTACAATCCTGGTTGGGGGGCATGAGTCATTGTCCCCACTTAAGGTGGAGGGAACTGAGTTTGGGGAAATTAAGGCAGTTCTCCAAGATTATGCAGAATAGAGATGTTATTAGCGACTATTGTGTGCATTGTAGCAATGGCATTTGATAATTTACAGAGCACTTCTGTATACTGTGGCTCCTTAGTGGAATTAAGCTGAGACCTCAGATCAGTCCCTTTAAAAGAAAAGTAAAAATAGCCACAGGGTTGTTTAACTCGCTTGTATTGGGCTTTGGTAGTATTCGTCCCATTGGCAGACAGTCTTCTATTTTAAGGTAGAGCATAGTTTGTCTCCAAGAATTCATTGTTAAAAACATTCACTAGGATCTGTGGAGGTTCTAGGCTAAGCAGAGTAAGCAGAATAAACAGATGGAAATGGGTTCCTCCCTTCAATGAACTCAACCTGATTCACCAAAGTGTAATTCACGAGTGACAGTTACGTAGTCCAGAGCAAGTACCAGGTGCAGGAGAGACCCTGGGGTCACAATGGAGACCCCATATGGGTGGCATGGCTCTCTACTTGCCATTCCTATTACACAGCAGTGTCTTGGCTACTTGGGCTGCCCTTTGGAAATGGGATCAATCTTGCAGGCTCCAGAAGACAGAGCCAAGACTTGTGTGTTAAGGAGATAGTTTACCTGTTGGGACATAAGAGCCTTGCTTGTAAGCAGCTTCTCAGAACTAAAAGTGTACAAATAACCTATTTCTCTTTTGAGTGTCAGGTTGTACTCGGTTATTTCTCTAGGGTTTTGTTCATCTCAGATTT
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GAAGAGTTAAAACCAAGCCTTTCCCTGGGGGTCTGGATGAACAGAACTCAACCCAAAGAGTGGCATTGCCTTGTCCTTGGAGCAGGGAGCTGGGACCCCCCTTGGACTTTGAAAACCAGTGTTTTCAGAATGCAGGTGGATAACAAGCCTAAATTTACTTCTGGGCTGAGGAGAGATCTTTGAGGCTCCTGGAAGGAAACTTGGTGATAAGCCTCCAGTTTGAAACGGCTCTGTCCCTTTAATGTCTGTGCCTTGACAGCTTTTGGTGAGGAAGCACTTCCTTCCAACAGCTGTCTTCTTGGCAGAAAACCAAAACATTGGCTTAAAGGGACCCACAGACTGGAACAGCCTCACATTTCGGCTTTAGAACAAATCCCACAATTGTTCAGCTTTCCGGTCCCCTTCAGATCAAGCAGAAGATATGTTTTGATTTTCATGCTTGTATTTTAAACAATAATTTTCTACCCCAGCGTGGTAGTCAATGAGGAGAGAGGGGAAGAATGCGCACATGATGCTACACGTTTCTGTTGTTGCTGTTATTATTGGTGGCTTTGAGGAGAGCTGCTCCCATTTGGGGGTTTATACCAACTGTGGATTATGGCTTTGTCATTAAGATTTGATCTTTGTTAAATGAAAAACTGTTTATTGTATAAAACTCAGGTTTGTGGACGAAAAGTTGTTTTTTTTCTTCAGTTAATTAAATTGTTCCTCAAGTTTGTTTAAGGACTTAAAATCAAACACAACCATGTGTAAACTGCTAAATGAGGCTCCTAAAATGAGAGGCCTCAACTCTTTAAGTGTGGAGCTAGAAATGTAAATAAGTCCACAGGGCAGACTGGTGATTATGATAAAAGCTACCATTTACTGAGCATCTGTCTACTAGGCTCAGCTCTATGCTAAGTCTACATGTTATCTGTCAAAGTGGTATCATCCCCATTTAATAGCTGAGGAAACAGAGGCTTAGAAAGGCTGGGTAACTTGACCAGGGTCATGCAACTAGTCTGCGGTGGAGCCAGGATTCTGTCTGACCCTAAAGGCCAAGTTCTTTATATTTATTTCTACCACCTGCTAAAGTCTTGAATGGAGGCTGAAAGCACAGTTGGGGTATGGGGAAGAAAAATATATATACATACATATATGTATATGTATGTATGTATGTATGGGGGGTTGTTTTGTTTTTGTTTTTGATAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGTATGATCTGGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACCGGAGCATGCCACCACACCCAGCAAAGTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTCATCTCAGGTGATCTGCCCGCCTCCGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGTCACCGCGTCCGGCCTACAGATATATTTAATTTAAAGAGATCTAAAACAAATACAAAACTGTCCACATCTATGTTGATGGACCCATAAAAATAGCAGTCTGCCAGGGTCTGCCGGAAGAGACAGATAAGCATACATATTAACATGGATATATATGTGAATTTCATTCAAATGGTTCTCACATGAGAGTAACTAGCATCTTTCTCTCAGATGATGAAGATGATGAAGAGGAAGATGAAGAGGAAGAAATCGACGTGGTCACTGTGGAGAAGCGGCGTTCCTCCTCCAACACCAAGGCTGTCACCACATTCACCATCACTGTGCGTCCCAAGAACGCAGCCCTGGGTCCCGGGAGGGCTCAGTCCAGCGAGCTGATCCTCAAACGATGCCTTCCCATCCACCAGCAGCACAACTATGCCGCCCCCTCTCCCTACGTGGAGAGTGAGGATGCACCCCCACAGAAGAAGATAAAGAGCGAGGCGTCCCCACGTCCGCTCAAGAGTGTCATCCCCCCAAAGGCTAAGAGCTTGAGCCCCCGAAACTCTGACTCGGAGGACAGTGAGCGTCGCAGAAACCACAACATCCTGGAGCGCCAGAGCCGCAACGACCTTCGGTCCAGCTTTCTCACGCTCAGGGACCACGTGCCGGAGTTGGTAAAGAATGAGAAGGCCGCCAAGGTGGTCATTTTGAAAAAGGCCACTGAGTATGTCCACTCCCTCCAGGCCGAGGAGCACCAGCTTTTGCTGGAAAAGGAAAAATTGCAGGCAAGACAGCAGCAGTTGCTAAAGAAAATTGAACACGCTCGGACTTGCTAGACGCTTCTCAAAACTGGACAGTCACTGCCACTTTGCACATTTTGATTTTTTTTTTAAACAAACATTGTGTTGACATTAAGAATGTTGGTTTACTTTCAAATCGGTCCCCTGTCGAGTTCGGCTCTGGGTGGGCAGTAGGACCACCAGTGTGGGGTTCTGCTGGGACCTTGGAGAGCCTGCATCCCAGGATGCTGGGTGGCCCTGCAGCCTCCTCCACCTCACCTCCATGACAGCGCTAAACGTTGGTGACGGTTGGGAGCCTCTGGGGCTGTTGAAGTCACCTTGTGTGTTCCAAGTTTCCAAACAACAGAAAGTCATTCCTTCTTTTTAAAATGGTGCTTAAGTTCCAGCAGATGCCACATAAGGGGTTTGCCATTTGATACCCCTGGGGAACATTTCTGTAAATACCATTGACACATCCGCCTTTTGTATACATCCTGGGTAATGAGAGGTGGCTTTTGCGGCCAGTATTAGACTGGAAGTTCATACCTAAGTACTGTAATAATACCTCAATGTTTGAGGAGCATGTTTTGTATACAAATATATTGTTAATCTCTGTTATGTACTGTACTAATTCTTACACTGCCTGTATACTTTAGTATGACGCTGATACATAACTAAATTTGATACTTATATTTTCGTATGAAAATGAGTTGTGAAAGTTTTGAGTAGATATTACTTTATCACTTTTTGAACTAAGAAACTTTTGTAAAGAAATTTACTATATATATATGCCTTTTTCCTAGCCTGTTTCTTCCTGTTAATGTATTTGTTCATGTTTGGTGCATAGAACTGGGTAAATGCAAAGTTCTGTGTTTAATTTCTTCAAAATGTATATATTTAGTGCTGCATCTTATAGCACTTTGAAATACCTCATGTTTATGAAAATAAATAGCTTAAAATTAAATGATGCAACTCAACCTTTTCCTTAATGGCATTACACTCTGTCCCTTAAGGAGCAACCATAAATAATCCATAACCTATAGAGGGAATTTGGTTTCCGTAAATAGCCCTTTTTGCACCTGTACAATCCTGGTTGGGGGGCATGAGTCATTGTCCCCACTTAAGGTGGAGGGAACTGAGTTTGGGGAAATTAAGGCAGTTCTCCAAGATTATGCAGAATAGAGATGTTATTAGCGACTATTGTGTGCATTGTAGCAATGGCATTTGATAATTTACAGAGCACTTCTGTATACTGTGGCTCCTTAGTGGAATTAAGCTGAGACCTCAGATCAGTCCCTTTAAAAGAAAAGTAAAAATAGCCACAGGGTTGTTTAACTCGCTTGTATTGGGCTTTGGTAGTATTCGTCCCATTGGCAGACAGTCTTCTATTTTAAGGTAGAGCATAGTTTGTCTCCAAGAATTCATTGTTAAAAACATTCACTAGGATCTGTGGAGGTTCTAGGCTAAGCAGAGTAAGCAGAATAAACAGATGGAAATGGGTTCCTCCCTTCAATGAACTCAACCTGATTCACCAAAGTGTAATTCACGAGTGACAGTTACGTAGTCCAGAGCAAGTACCAGGTGCAGGAGAGACCCTGGGGTCACAATGGAGACCCCATATGGGTGGCATGGCTCTCTACTTGCCATTCCTATTACACAGCAGTGTCTTGGCTACTTGGGCTGCCCTTTGGAAATGGGATCAATCTTGCAGGCTCCAGAAGACAGAGCCAAGACTTGTGTGTTAAGGAGATAGTTTACCTGTTGGGACATAAGAGCCTTGCTTGTAAGCAGCTTCTCAGAACTAAAAGTGTACAAATAACCTATTTCTCTTTTGAGTGTCAGGTTGTACTCGGTTATTTCTCTAGGGTTTTGTTCATCTCAGATTT
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Task1_train_3124
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Given this variant in gene MYCN (MYCN proto-oncogene, bHLH transcription factor) on Chromosome 2, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Feingold syndrome type 1
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AAGAGTTAAAACCAAGCCTTTCCCTGGGGGTCTGGATGAACAGAACTCAACCCAAAGAGTGGCATTGCCTTGTCCTTGGAGCAGGGAGCTGGGACCCCCCTTGGACTTTGAAAACCAGTGTTTTCAGAATGCAGGTGGATAACAAGCCTAAATTTACTTCTGGGCTGAGGAGAGATCTTTGAGGCTCCTGGAAGGAAACTTGGTGATAAGCCTCCAGTTTGAAACGGCTCTGTCCCTTTAATGTCTGTGCCTTGACAGCTTTTGGTGAGGAAGCACTTCCTTCCAACAGCTGTCTTCTTGGCAGAAAACCAAAACATTGGCTTAAAGGGACCCACAGACTGGAACAGCCTCACATTTCGGCTTTAGAACAAATCCCACAATTGTTCAGCTTTCCGGTCCCCTTCAGATCAAGCAGAAGATATGTTTTGATTTTCATGCTTGTATTTTAAACAATAATTTTCTACCCCAGCGTGGTAGTCAATGAGGAGAGAGGGGAAGAATGCGCACATGATGCTACACGTTTCTGTTGTTGCTGTTATTATTGGTGGCTTTGAGGAGAGCTGCTCCCATTTGGGGGTTTATACCAACTGTGGATTATGGCTTTGTCATTAAGATTTGATCTTTGTTAAATGAAAAACTGTTTATTGTATAAAACTCAGGTTTGTGGACGAAAAGTTGTTTTTTTTCTTCAGTTAATTAAATTGTTCCTCAAGTTTGTTTAAGGACTTAAAATCAAACACAACCATGTGTAAACTGCTAAATGAGGCTCCTAAAATGAGAGGCCTCAACTCTTTAAGTGTGGAGCTAGAAATGTAAATAAGTCCACAGGGCAGACTGGTGATTATGATAAAAGCTACCATTTACTGAGCATCTGTCTACTAGGCTCAGCTCTATGCTAAGTCTACATGTTATCTGTCAAAGTGGTATCATCCCCATTTAATAGCTGAGGAAACAGAGGCTTAGAAAGGCTGGGTAACTTGACCAGGGTCATGCAACTAGTCTGCGGTGGAGCCAGGATTCTGTCTGACCCTAAAGGCCAAGTTCTTTATATTTATTTCTACCACCTGCTAAAGTCTTGAATGGAGGCTGAAAGCACAGTTGGGGTATGGGGAAGAAAAATATATATACATACATATATGTATATGTATGTATGTATGTATGGGGGGTTGTTTTGTTTTTGTTTTTGATAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGTATGATCTGGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACCGGAGCATGCCACCACACCCAGCAAAGTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTCATCTCAGGTGATCTGCCCGCCTCCGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGTCACCGCGTCCGGCCTACAGATATATTTAATTTAAAGAGATCTAAAACAAATACAAAACTGTCCACATCTATGTTGATGGACCCATAAAAATAGCAGTCTGCCAGGGTCTGCCGGAAGAGACAGATAAGCATACATATTAACATGGATATATATGTGAATTTCATTCAAATGGTTCTCACATGAGAGTAACTAGCATCTTTCTCTCAGATGATGAAGATGATGAAGAGGAAGATGAAGAGGAAGAAATCGACGTGGTCACTGTGGAGAAGCGGCGTTCCTCCTCCAACACCAAGGCTGTCACCACATTCACCATCACTGTGCGTCCCAAGAACGCAGCCCTGGGTCCCGGGAGGGCTCAGTCCAGCGAGCTGATCCTCAAACGATGCCTTCCCATCCACCAGCAGCACAACTATGCCGCCCCCTCTCCCTACGTGGAGAGTGAGGATGCACCCCCACAGAAGAAGATAAAGAGCGAGGCGTCCCCACGTCCGCTCAAGAGTGTCATCCCCCCAAAGGCTAAGAGCTTGAGCCCCCGAAACTCTGACTCGGAGGACAGTGAGCGTCGCAGAAACCACAACATCCTGGAGCGCCAGCGCCGCAACGACCTTCGGTCCAGCTTTCTCACGCTCAGGGACCACGTGCCGGAGTTGGTAAAGAATGAGAAGGCCGCCAAGGTGGTCATTTTGAAAAAGGCCACTGAGTATGTCCACTCCCTCCAGGCCGAGGAGCACCAGCTTTTGCTGGAAAAGGAAAAATTGCAGGCAAGACAGCAGCAGTTGCTAAAGAAAATTGAACACGCTCGGACTTGCTAGACGCTTCTCAAAACTGGACAGTCACTGCCACTTTGCACATTTTGATTTTTTTTTTAAACAAACATTGTGTTGACATTAAGAATGTTGGTTTACTTTCAAATCGGTCCCCTGTCGAGTTCGGCTCTGGGTGGGCAGTAGGACCACCAGTGTGGGGTTCTGCTGGGACCTTGGAGAGCCTGCATCCCAGGATGCTGGGTGGCCCTGCAGCCTCCTCCACCTCACCTCCATGACAGCGCTAAACGTTGGTGACGGTTGGGAGCCTCTGGGGCTGTTGAAGTCACCTTGTGTGTTCCAAGTTTCCAAACAACAGAAAGTCATTCCTTCTTTTTAAAATGGTGCTTAAGTTCCAGCAGATGCCACATAAGGGGTTTGCCATTTGATACCCCTGGGGAACATTTCTGTAAATACCATTGACACATCCGCCTTTTGTATACATCCTGGGTAATGAGAGGTGGCTTTTGCGGCCAGTATTAGACTGGAAGTTCATACCTAAGTACTGTAATAATACCTCAATGTTTGAGGAGCATGTTTTGTATACAAATATATTGTTAATCTCTGTTATGTACTGTACTAATTCTTACACTGCCTGTATACTTTAGTATGACGCTGATACATAACTAAATTTGATACTTATATTTTCGTATGAAAATGAGTTGTGAAAGTTTTGAGTAGATATTACTTTATCACTTTTTGAACTAAGAAACTTTTGTAAAGAAATTTACTATATATATATGCCTTTTTCCTAGCCTGTTTCTTCCTGTTAATGTATTTGTTCATGTTTGGTGCATAGAACTGGGTAAATGCAAAGTTCTGTGTTTAATTTCTTCAAAATGTATATATTTAGTGCTGCATCTTATAGCACTTTGAAATACCTCATGTTTATGAAAATAAATAGCTTAAAATTAAATGATGCAACTCAACCTTTTCCTTAATGGCATTACACTCTGTCCCTTAAGGAGCAACCATAAATAATCCATAACCTATAGAGGGAATTTGGTTTCCGTAAATAGCCCTTTTTGCACCTGTACAATCCTGGTTGGGGGGCATGAGTCATTGTCCCCACTTAAGGTGGAGGGAACTGAGTTTGGGGAAATTAAGGCAGTTCTCCAAGATTATGCAGAATAGAGATGTTATTAGCGACTATTGTGTGCATTGTAGCAATGGCATTTGATAATTTACAGAGCACTTCTGTATACTGTGGCTCCTTAGTGGAATTAAGCTGAGACCTCAGATCAGTCCCTTTAAAAGAAAAGTAAAAATAGCCACAGGGTTGTTTAACTCGCTTGTATTGGGCTTTGGTAGTATTCGTCCCATTGGCAGACAGTCTTCTATTTTAAGGTAGAGCATAGTTTGTCTCCAAGAATTCATTGTTAAAAACATTCACTAGGATCTGTGGAGGTTCTAGGCTAAGCAGAGTAAGCAGAATAAACAGATGGAAATGGGTTCCTCCCTTCAATGAACTCAACCTGATTCACCAAAGTGTAATTCACGAGTGACAGTTACGTAGTCCAGAGCAAGTACCAGGTGCAGGAGAGACCCTGGGGTCACAATGGAGACCCCATATGGGTGGCATGGCTCTCTACTTGCCATTCCTATTACACAGCAGTGTCTTGGCTACTTGGGCTGCCCTTTGGAAATGGGATCAATCTTGCAGGCTCCAGAAGACAGAGCCAAGACTTGTGTGTTAAGGAGATAGTTTACCTGTTGGGACATAAGAGCCTTGCTTGTAAGCAGCTTCTCAGAACTAAAAGTGTACAAATAACCTATTTCTCTTTTGAGTGTCAGGTTGTACTCGGTTATTTCTCTAGGGTTTTGTTCATCTCAGATTTT
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AAGAGTTAAAACCAAGCCTTTCCCTGGGGGTCTGGATGAACAGAACTCAACCCAAAGAGTGGCATTGCCTTGTCCTTGGAGCAGGGAGCTGGGACCCCCCTTGGACTTTGAAAACCAGTGTTTTCAGAATGCAGGTGGATAACAAGCCTAAATTTACTTCTGGGCTGAGGAGAGATCTTTGAGGCTCCTGGAAGGAAACTTGGTGATAAGCCTCCAGTTTGAAACGGCTCTGTCCCTTTAATGTCTGTGCCTTGACAGCTTTTGGTGAGGAAGCACTTCCTTCCAACAGCTGTCTTCTTGGCAGAAAACCAAAACATTGGCTTAAAGGGACCCACAGACTGGAACAGCCTCACATTTCGGCTTTAGAACAAATCCCACAATTGTTCAGCTTTCCGGTCCCCTTCAGATCAAGCAGAAGATATGTTTTGATTTTCATGCTTGTATTTTAAACAATAATTTTCTACCCCAGCGTGGTAGTCAATGAGGAGAGAGGGGAAGAATGCGCACATGATGCTACACGTTTCTGTTGTTGCTGTTATTATTGGTGGCTTTGAGGAGAGCTGCTCCCATTTGGGGGTTTATACCAACTGTGGATTATGGCTTTGTCATTAAGATTTGATCTTTGTTAAATGAAAAACTGTTTATTGTATAAAACTCAGGTTTGTGGACGAAAAGTTGTTTTTTTTCTTCAGTTAATTAAATTGTTCCTCAAGTTTGTTTAAGGACTTAAAATCAAACACAACCATGTGTAAACTGCTAAATGAGGCTCCTAAAATGAGAGGCCTCAACTCTTTAAGTGTGGAGCTAGAAATGTAAATAAGTCCACAGGGCAGACTGGTGATTATGATAAAAGCTACCATTTACTGAGCATCTGTCTACTAGGCTCAGCTCTATGCTAAGTCTACATGTTATCTGTCAAAGTGGTATCATCCCCATTTAATAGCTGAGGAAACAGAGGCTTAGAAAGGCTGGGTAACTTGACCAGGGTCATGCAACTAGTCTGCGGTGGAGCCAGGATTCTGTCTGACCCTAAAGGCCAAGTTCTTTATATTTATTTCTACCACCTGCTAAAGTCTTGAATGGAGGCTGAAAGCACAGTTGGGGTATGGGGAAGAAAAATATATATACATACATATATGTATATGTATGTATGTATGTATGGGGGGTTGTTTTGTTTTTGTTTTTGATAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGTATGATCTGGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACCGGAGCATGCCACCACACCCAGCAAAGTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTCATCTCAGGTGATCTGCCCGCCTCCGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGTCACCGCGTCCGGCCTACAGATATATTTAATTTAAAGAGATCTAAAACAAATACAAAACTGTCCACATCTATGTTGATGGACCCATAAAAATAGCAGTCTGCCAGGGTCTGCCGGAAGAGACAGATAAGCATACATATTAACATGGATATATATGTGAATTTCATTCAAATGGTTCTCACATGAGAGTAACTAGCATCTTTCTCTCAGATGATGAAGATGATGAAGAGGAAGATGAAGAGGAAGAAATCGACGTGGTCACTGTGGAGAAGCGGCGTTCCTCCTCCAACACCAAGGCTGTCACCACATTCACCATCACTGTGCGTCCCAAGAACGCAGCCCTGGGTCCCGGGAGGGCTCAGTCCAGCGAGCTGATCCTCAAACGATGCCTTCCCATCCACCAGCAGCACAACTATGCCGCCCCCTCTCCCTACGTGGAGAGTGAGGATGCACCCCCACAGAAGAAGATAAAGAGCGAGGCGTCCCCACGTCCGCTCAAGAGTGTCATCCCCCCAAAGGCTAAGAGCTTGAGCCCCCGAAACTCTGACTCGGAGGACAGTGAGCGTCGCAGAAACCACAACATCCTGGAGCGCCAGCACCGCAACGACCTTCGGTCCAGCTTTCTCACGCTCAGGGACCACGTGCCGGAGTTGGTAAAGAATGAGAAGGCCGCCAAGGTGGTCATTTTGAAAAAGGCCACTGAGTATGTCCACTCCCTCCAGGCCGAGGAGCACCAGCTTTTGCTGGAAAAGGAAAAATTGCAGGCAAGACAGCAGCAGTTGCTAAAGAAAATTGAACACGCTCGGACTTGCTAGACGCTTCTCAAAACTGGACAGTCACTGCCACTTTGCACATTTTGATTTTTTTTTTAAACAAACATTGTGTTGACATTAAGAATGTTGGTTTACTTTCAAATCGGTCCCCTGTCGAGTTCGGCTCTGGGTGGGCAGTAGGACCACCAGTGTGGGGTTCTGCTGGGACCTTGGAGAGCCTGCATCCCAGGATGCTGGGTGGCCCTGCAGCCTCCTCCACCTCACCTCCATGACAGCGCTAAACGTTGGTGACGGTTGGGAGCCTCTGGGGCTGTTGAAGTCACCTTGTGTGTTCCAAGTTTCCAAACAACAGAAAGTCATTCCTTCTTTTTAAAATGGTGCTTAAGTTCCAGCAGATGCCACATAAGGGGTTTGCCATTTGATACCCCTGGGGAACATTTCTGTAAATACCATTGACACATCCGCCTTTTGTATACATCCTGGGTAATGAGAGGTGGCTTTTGCGGCCAGTATTAGACTGGAAGTTCATACCTAAGTACTGTAATAATACCTCAATGTTTGAGGAGCATGTTTTGTATACAAATATATTGTTAATCTCTGTTATGTACTGTACTAATTCTTACACTGCCTGTATACTTTAGTATGACGCTGATACATAACTAAATTTGATACTTATATTTTCGTATGAAAATGAGTTGTGAAAGTTTTGAGTAGATATTACTTTATCACTTTTTGAACTAAGAAACTTTTGTAAAGAAATTTACTATATATATATGCCTTTTTCCTAGCCTGTTTCTTCCTGTTAATGTATTTGTTCATGTTTGGTGCATAGAACTGGGTAAATGCAAAGTTCTGTGTTTAATTTCTTCAAAATGTATATATTTAGTGCTGCATCTTATAGCACTTTGAAATACCTCATGTTTATGAAAATAAATAGCTTAAAATTAAATGATGCAACTCAACCTTTTCCTTAATGGCATTACACTCTGTCCCTTAAGGAGCAACCATAAATAATCCATAACCTATAGAGGGAATTTGGTTTCCGTAAATAGCCCTTTTTGCACCTGTACAATCCTGGTTGGGGGGCATGAGTCATTGTCCCCACTTAAGGTGGAGGGAACTGAGTTTGGGGAAATTAAGGCAGTTCTCCAAGATTATGCAGAATAGAGATGTTATTAGCGACTATTGTGTGCATTGTAGCAATGGCATTTGATAATTTACAGAGCACTTCTGTATACTGTGGCTCCTTAGTGGAATTAAGCTGAGACCTCAGATCAGTCCCTTTAAAAGAAAAGTAAAAATAGCCACAGGGTTGTTTAACTCGCTTGTATTGGGCTTTGGTAGTATTCGTCCCATTGGCAGACAGTCTTCTATTTTAAGGTAGAGCATAGTTTGTCTCCAAGAATTCATTGTTAAAAACATTCACTAGGATCTGTGGAGGTTCTAGGCTAAGCAGAGTAAGCAGAATAAACAGATGGAAATGGGTTCCTCCCTTCAATGAACTCAACCTGATTCACCAAAGTGTAATTCACGAGTGACAGTTACGTAGTCCAGAGCAAGTACCAGGTGCAGGAGAGACCCTGGGGTCACAATGGAGACCCCATATGGGTGGCATGGCTCTCTACTTGCCATTCCTATTACACAGCAGTGTCTTGGCTACTTGGGCTGCCCTTTGGAAATGGGATCAATCTTGCAGGCTCCAGAAGACAGAGCCAAGACTTGTGTGTTAAGGAGATAGTTTACCTGTTGGGACATAAGAGCCTTGCTTGTAAGCAGCTTCTCAGAACTAAAAGTGTACAAATAACCTATTTCTCTTTTGAGTGTCAGGTTGTACTCGGTTATTTCTCTAGGGTTTTGTTCATCTCAGATTTT
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Task1_train_3125
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With a mutation on Chromosome 2 in gene MYCN (MYCN proto-oncogene, bHLH transcription factor), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Feingold syndrome
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AGTTAAAACCAAGCCTTTCCCTGGGGGTCTGGATGAACAGAACTCAACCCAAAGAGTGGCATTGCCTTGTCCTTGGAGCAGGGAGCTGGGACCCCCCTTGGACTTTGAAAACCAGTGTTTTCAGAATGCAGGTGGATAACAAGCCTAAATTTACTTCTGGGCTGAGGAGAGATCTTTGAGGCTCCTGGAAGGAAACTTGGTGATAAGCCTCCAGTTTGAAACGGCTCTGTCCCTTTAATGTCTGTGCCTTGACAGCTTTTGGTGAGGAAGCACTTCCTTCCAACAGCTGTCTTCTTGGCAGAAAACCAAAACATTGGCTTAAAGGGACCCACAGACTGGAACAGCCTCACATTTCGGCTTTAGAACAAATCCCACAATTGTTCAGCTTTCCGGTCCCCTTCAGATCAAGCAGAAGATATGTTTTGATTTTCATGCTTGTATTTTAAACAATAATTTTCTACCCCAGCGTGGTAGTCAATGAGGAGAGAGGGGAAGAATGCGCACATGATGCTACACGTTTCTGTTGTTGCTGTTATTATTGGTGGCTTTGAGGAGAGCTGCTCCCATTTGGGGGTTTATACCAACTGTGGATTATGGCTTTGTCATTAAGATTTGATCTTTGTTAAATGAAAAACTGTTTATTGTATAAAACTCAGGTTTGTGGACGAAAAGTTGTTTTTTTTCTTCAGTTAATTAAATTGTTCCTCAAGTTTGTTTAAGGACTTAAAATCAAACACAACCATGTGTAAACTGCTAAATGAGGCTCCTAAAATGAGAGGCCTCAACTCTTTAAGTGTGGAGCTAGAAATGTAAATAAGTCCACAGGGCAGACTGGTGATTATGATAAAAGCTACCATTTACTGAGCATCTGTCTACTAGGCTCAGCTCTATGCTAAGTCTACATGTTATCTGTCAAAGTGGTATCATCCCCATTTAATAGCTGAGGAAACAGAGGCTTAGAAAGGCTGGGTAACTTGACCAGGGTCATGCAACTAGTCTGCGGTGGAGCCAGGATTCTGTCTGACCCTAAAGGCCAAGTTCTTTATATTTATTTCTACCACCTGCTAAAGTCTTGAATGGAGGCTGAAAGCACAGTTGGGGTATGGGGAAGAAAAATATATATACATACATATATGTATATGTATGTATGTATGTATGGGGGGTTGTTTTGTTTTTGTTTTTGATAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGTATGATCTGGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACCGGAGCATGCCACCACACCCAGCAAAGTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTCATCTCAGGTGATCTGCCCGCCTCCGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGTCACCGCGTCCGGCCTACAGATATATTTAATTTAAAGAGATCTAAAACAAATACAAAACTGTCCACATCTATGTTGATGGACCCATAAAAATAGCAGTCTGCCAGGGTCTGCCGGAAGAGACAGATAAGCATACATATTAACATGGATATATATGTGAATTTCATTCAAATGGTTCTCACATGAGAGTAACTAGCATCTTTCTCTCAGATGATGAAGATGATGAAGAGGAAGATGAAGAGGAAGAAATCGACGTGGTCACTGTGGAGAAGCGGCGTTCCTCCTCCAACACCAAGGCTGTCACCACATTCACCATCACTGTGCGTCCCAAGAACGCAGCCCTGGGTCCCGGGAGGGCTCAGTCCAGCGAGCTGATCCTCAAACGATGCCTTCCCATCCACCAGCAGCACAACTATGCCGCCCCCTCTCCCTACGTGGAGAGTGAGGATGCACCCCCACAGAAGAAGATAAAGAGCGAGGCGTCCCCACGTCCGCTCAAGAGTGTCATCCCCCCAAAGGCTAAGAGCTTGAGCCCCCGAAACTCTGACTCGGAGGACAGTGAGCGTCGCAGAAACCACAACATCCTGGAGCGCCAGCGCCGCAACGACCTTCGGTCCAGCTTTCTCACGCTCAGGGACCACGTGCCGGAGTTGGTAAAGAATGAGAAGGCCGCCAAGGTGGTCATTTTGAAAAAGGCCACTGAGTATGTCCACTCCCTCCAGGCCGAGGAGCACCAGCTTTTGCTGGAAAAGGAAAAATTGCAGGCAAGACAGCAGCAGTTGCTAAAGAAAATTGAACACGCTCGGACTTGCTAGACGCTTCTCAAAACTGGACAGTCACTGCCACTTTGCACATTTTGATTTTTTTTTTAAACAAACATTGTGTTGACATTAAGAATGTTGGTTTACTTTCAAATCGGTCCCCTGTCGAGTTCGGCTCTGGGTGGGCAGTAGGACCACCAGTGTGGGGTTCTGCTGGGACCTTGGAGAGCCTGCATCCCAGGATGCTGGGTGGCCCTGCAGCCTCCTCCACCTCACCTCCATGACAGCGCTAAACGTTGGTGACGGTTGGGAGCCTCTGGGGCTGTTGAAGTCACCTTGTGTGTTCCAAGTTTCCAAACAACAGAAAGTCATTCCTTCTTTTTAAAATGGTGCTTAAGTTCCAGCAGATGCCACATAAGGGGTTTGCCATTTGATACCCCTGGGGAACATTTCTGTAAATACCATTGACACATCCGCCTTTTGTATACATCCTGGGTAATGAGAGGTGGCTTTTGCGGCCAGTATTAGACTGGAAGTTCATACCTAAGTACTGTAATAATACCTCAATGTTTGAGGAGCATGTTTTGTATACAAATATATTGTTAATCTCTGTTATGTACTGTACTAATTCTTACACTGCCTGTATACTTTAGTATGACGCTGATACATAACTAAATTTGATACTTATATTTTCGTATGAAAATGAGTTGTGAAAGTTTTGAGTAGATATTACTTTATCACTTTTTGAACTAAGAAACTTTTGTAAAGAAATTTACTATATATATATGCCTTTTTCCTAGCCTGTTTCTTCCTGTTAATGTATTTGTTCATGTTTGGTGCATAGAACTGGGTAAATGCAAAGTTCTGTGTTTAATTTCTTCAAAATGTATATATTTAGTGCTGCATCTTATAGCACTTTGAAATACCTCATGTTTATGAAAATAAATAGCTTAAAATTAAATGATGCAACTCAACCTTTTCCTTAATGGCATTACACTCTGTCCCTTAAGGAGCAACCATAAATAATCCATAACCTATAGAGGGAATTTGGTTTCCGTAAATAGCCCTTTTTGCACCTGTACAATCCTGGTTGGGGGGCATGAGTCATTGTCCCCACTTAAGGTGGAGGGAACTGAGTTTGGGGAAATTAAGGCAGTTCTCCAAGATTATGCAGAATAGAGATGTTATTAGCGACTATTGTGTGCATTGTAGCAATGGCATTTGATAATTTACAGAGCACTTCTGTATACTGTGGCTCCTTAGTGGAATTAAGCTGAGACCTCAGATCAGTCCCTTTAAAAGAAAAGTAAAAATAGCCACAGGGTTGTTTAACTCGCTTGTATTGGGCTTTGGTAGTATTCGTCCCATTGGCAGACAGTCTTCTATTTTAAGGTAGAGCATAGTTTGTCTCCAAGAATTCATTGTTAAAAACATTCACTAGGATCTGTGGAGGTTCTAGGCTAAGCAGAGTAAGCAGAATAAACAGATGGAAATGGGTTCCTCCCTTCAATGAACTCAACCTGATTCACCAAAGTGTAATTCACGAGTGACAGTTACGTAGTCCAGAGCAAGTACCAGGTGCAGGAGAGACCCTGGGGTCACAATGGAGACCCCATATGGGTGGCATGGCTCTCTACTTGCCATTCCTATTACACAGCAGTGTCTTGGCTACTTGGGCTGCCCTTTGGAAATGGGATCAATCTTGCAGGCTCCAGAAGACAGAGCCAAGACTTGTGTGTTAAGGAGATAGTTTACCTGTTGGGACATAAGAGCCTTGCTTGTAAGCAGCTTCTCAGAACTAAAAGTGTACAAATAACCTATTTCTCTTTTGAGTGTCAGGTTGTACTCGGTTATTTCTCTAGGGTTTTGTTCATCTCAGATTTTTAA
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AGTTAAAACCAAGCCTTTCCCTGGGGGTCTGGATGAACAGAACTCAACCCAAAGAGTGGCATTGCCTTGTCCTTGGAGCAGGGAGCTGGGACCCCCCTTGGACTTTGAAAACCAGTGTTTTCAGAATGCAGGTGGATAACAAGCCTAAATTTACTTCTGGGCTGAGGAGAGATCTTTGAGGCTCCTGGAAGGAAACTTGGTGATAAGCCTCCAGTTTGAAACGGCTCTGTCCCTTTAATGTCTGTGCCTTGACAGCTTTTGGTGAGGAAGCACTTCCTTCCAACAGCTGTCTTCTTGGCAGAAAACCAAAACATTGGCTTAAAGGGACCCACAGACTGGAACAGCCTCACATTTCGGCTTTAGAACAAATCCCACAATTGTTCAGCTTTCCGGTCCCCTTCAGATCAAGCAGAAGATATGTTTTGATTTTCATGCTTGTATTTTAAACAATAATTTTCTACCCCAGCGTGGTAGTCAATGAGGAGAGAGGGGAAGAATGCGCACATGATGCTACACGTTTCTGTTGTTGCTGTTATTATTGGTGGCTTTGAGGAGAGCTGCTCCCATTTGGGGGTTTATACCAACTGTGGATTATGGCTTTGTCATTAAGATTTGATCTTTGTTAAATGAAAAACTGTTTATTGTATAAAACTCAGGTTTGTGGACGAAAAGTTGTTTTTTTTCTTCAGTTAATTAAATTGTTCCTCAAGTTTGTTTAAGGACTTAAAATCAAACACAACCATGTGTAAACTGCTAAATGAGGCTCCTAAAATGAGAGGCCTCAACTCTTTAAGTGTGGAGCTAGAAATGTAAATAAGTCCACAGGGCAGACTGGTGATTATGATAAAAGCTACCATTTACTGAGCATCTGTCTACTAGGCTCAGCTCTATGCTAAGTCTACATGTTATCTGTCAAAGTGGTATCATCCCCATTTAATAGCTGAGGAAACAGAGGCTTAGAAAGGCTGGGTAACTTGACCAGGGTCATGCAACTAGTCTGCGGTGGAGCCAGGATTCTGTCTGACCCTAAAGGCCAAGTTCTTTATATTTATTTCTACCACCTGCTAAAGTCTTGAATGGAGGCTGAAAGCACAGTTGGGGTATGGGGAAGAAAAATATATATACATACATATATGTATATGTATGTATGTATGTATGGGGGGTTGTTTTGTTTTTGTTTTTGATAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGTATGATCTGGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACCGGAGCATGCCACCACACCCAGCAAAGTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTCATCTCAGGTGATCTGCCCGCCTCCGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGTCACCGCGTCCGGCCTACAGATATATTTAATTTAAAGAGATCTAAAACAAATACAAAACTGTCCACATCTATGTTGATGGACCCATAAAAATAGCAGTCTGCCAGGGTCTGCCGGAAGAGACAGATAAGCATACATATTAACATGGATATATATGTGAATTTCATTCAAATGGTTCTCACATGAGAGTAACTAGCATCTTTCTCTCAGATGATGAAGATGATGAAGAGGAAGATGAAGAGGAAGAAATCGACGTGGTCACTGTGGAGAAGCGGCGTTCCTCCTCCAACACCAAGGCTGTCACCACATTCACCATCACTGTGCGTCCCAAGAACGCAGCCCTGGGTCCCGGGAGGGCTCAGTCCAGCGAGCTGATCCTCAAACGATGCCTTCCCATCCACCAGCAGCACAACTATGCCGCCCCCTCTCCCTACGTGGAGAGTGAGGATGCACCCCCACAGAAGAAGATAAAGAGCGAGGCGTCCCCACGTCCGCTCAAGAGTGTCATCCCCCCAAAGGCTAAGAGCTTGAGCCCCCGAAACTCTGACTCGGAGGACAGTGAGCGTCGCAGAAACCACAACATCCTGGAGCGCCAGCGCCACAACGACCTTCGGTCCAGCTTTCTCACGCTCAGGGACCACGTGCCGGAGTTGGTAAAGAATGAGAAGGCCGCCAAGGTGGTCATTTTGAAAAAGGCCACTGAGTATGTCCACTCCCTCCAGGCCGAGGAGCACCAGCTTTTGCTGGAAAAGGAAAAATTGCAGGCAAGACAGCAGCAGTTGCTAAAGAAAATTGAACACGCTCGGACTTGCTAGACGCTTCTCAAAACTGGACAGTCACTGCCACTTTGCACATTTTGATTTTTTTTTTAAACAAACATTGTGTTGACATTAAGAATGTTGGTTTACTTTCAAATCGGTCCCCTGTCGAGTTCGGCTCTGGGTGGGCAGTAGGACCACCAGTGTGGGGTTCTGCTGGGACCTTGGAGAGCCTGCATCCCAGGATGCTGGGTGGCCCTGCAGCCTCCTCCACCTCACCTCCATGACAGCGCTAAACGTTGGTGACGGTTGGGAGCCTCTGGGGCTGTTGAAGTCACCTTGTGTGTTCCAAGTTTCCAAACAACAGAAAGTCATTCCTTCTTTTTAAAATGGTGCTTAAGTTCCAGCAGATGCCACATAAGGGGTTTGCCATTTGATACCCCTGGGGAACATTTCTGTAAATACCATTGACACATCCGCCTTTTGTATACATCCTGGGTAATGAGAGGTGGCTTTTGCGGCCAGTATTAGACTGGAAGTTCATACCTAAGTACTGTAATAATACCTCAATGTTTGAGGAGCATGTTTTGTATACAAATATATTGTTAATCTCTGTTATGTACTGTACTAATTCTTACACTGCCTGTATACTTTAGTATGACGCTGATACATAACTAAATTTGATACTTATATTTTCGTATGAAAATGAGTTGTGAAAGTTTTGAGTAGATATTACTTTATCACTTTTTGAACTAAGAAACTTTTGTAAAGAAATTTACTATATATATATGCCTTTTTCCTAGCCTGTTTCTTCCTGTTAATGTATTTGTTCATGTTTGGTGCATAGAACTGGGTAAATGCAAAGTTCTGTGTTTAATTTCTTCAAAATGTATATATTTAGTGCTGCATCTTATAGCACTTTGAAATACCTCATGTTTATGAAAATAAATAGCTTAAAATTAAATGATGCAACTCAACCTTTTCCTTAATGGCATTACACTCTGTCCCTTAAGGAGCAACCATAAATAATCCATAACCTATAGAGGGAATTTGGTTTCCGTAAATAGCCCTTTTTGCACCTGTACAATCCTGGTTGGGGGGCATGAGTCATTGTCCCCACTTAAGGTGGAGGGAACTGAGTTTGGGGAAATTAAGGCAGTTCTCCAAGATTATGCAGAATAGAGATGTTATTAGCGACTATTGTGTGCATTGTAGCAATGGCATTTGATAATTTACAGAGCACTTCTGTATACTGTGGCTCCTTAGTGGAATTAAGCTGAGACCTCAGATCAGTCCCTTTAAAAGAAAAGTAAAAATAGCCACAGGGTTGTTTAACTCGCTTGTATTGGGCTTTGGTAGTATTCGTCCCATTGGCAGACAGTCTTCTATTTTAAGGTAGAGCATAGTTTGTCTCCAAGAATTCATTGTTAAAAACATTCACTAGGATCTGTGGAGGTTCTAGGCTAAGCAGAGTAAGCAGAATAAACAGATGGAAATGGGTTCCTCCCTTCAATGAACTCAACCTGATTCACCAAAGTGTAATTCACGAGTGACAGTTACGTAGTCCAGAGCAAGTACCAGGTGCAGGAGAGACCCTGGGGTCACAATGGAGACCCCATATGGGTGGCATGGCTCTCTACTTGCCATTCCTATTACACAGCAGTGTCTTGGCTACTTGGGCTGCCCTTTGGAAATGGGATCAATCTTGCAGGCTCCAGAAGACAGAGCCAAGACTTGTGTGTTAAGGAGATAGTTTACCTGTTGGGACATAAGAGCCTTGCTTGTAAGCAGCTTCTCAGAACTAAAAGTGTACAAATAACCTATTTCTCTTTTGAGTGTCAGGTTGTACTCGGTTATTTCTCTAGGGTTTTGTTCATCTCAGATTTTTAA
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Task1_train_3126
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The gene WDR35 (WD repeat domain 35), on Chromosome 2, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Cranioectodermal dysplasia 2
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GCTGGAATTCATTGTGTTACATTTAGGTAAGTAAGTTAGTAACCTAGGAGACTTATTAGGCAAAGTTAATAGAGCGTGTATGTGTGACCACAGATAGAAAGGAGCAAGAGATACCAAATATTCATGAAGCACTAAAAATATGAAAAGCCACAAAGATACCAAATATTCATGATACACTAAGTATGCATGAGACATATAAAGCCTTCAGTATGTGTGAGAAGTTGATTCAATTACCCACTGGTGACACTCATTCTGGCCTGTCCTTACCCAAGAAATACAATAAAATTCATGACTGCTCAGCAGACTAATAGGCAAGCTATTGCTGTGGTGAAGTGTACTTGCCCCTGACACCCTTCTATAGAGCAAGTGTACATCGTTGGCCTCAGGCACATTTCATCTGATTGAGTCATCTGGCTCAAGCGGCCACTCTGGTCCTTTTTGTAACCCGACTATTAGGGGAAAGCGTATGTGACAGAATGTGAGTCAGGACATAAAAACATTACAAAACCCAGGATTCAGGTGTTGCGGTCTTTCCACTCCACTGGCACGTTACACTAACAGTGTTAATCTATCATTGCTTTCTCCTTGTTCCTCACTGTGTATTGCAAATTGGTTCAATAAACCAATGTATTTTGAGAATTTTTATTTGGTTTATAAGGCTTTCTGTTCCATGACCTCTGGAATAGCTTGCGAGGCAGTCTATTTAGAGGCTACCATTGTACCAAGGTAATTTTCCACGAGGCGCATGAATAGAGACAGAGACCTCAAAGACTTCTGGTCTTCTCTTTTTATTTAGGCCAATGAGCCCACTCTCTATCCTAAGCTCATCTAGGCTCTAAATCTCTTCTCATAGCTCACTATTCCCAATCTGCAACATGCTGAACTTGTCTCTGTCTCTACAAGACAAAAACATATGAGATTGAGAAAGTGTATTGTAGCTGCAAAAACAAAGTTGCGTATCTCTATGTATTGCCTCTACTATATGTAAGCCAAACCTCAATAAAATAATCTTGATGAAATAGTGCAAAGGTCTGGTCTTTAGCCACAAAATGGGAATTCATGAGAAATAAACAGAGAACATTATTAGCTATGTAAAAGACATAAGAAATGATCCATTATGGATCACAACTGTTTATCTTTCAAATTAATAATAAATGAAAACAGACGCATATCAAGAAAAAATCACTCCCTCAACAATACTTGTGTAAATAAACGGTCCAACTTAGTGACAATGTTTCAACAGAAGCTATAACTACAAAATGGATATTTCTGTTTAAGTTATCTTCATTATAAATAGAGGCAAGTTTTCTGCACAATCATATGAAAGTGTAAATTCCAAATGCCATCTCTTAAATGAGACTAAAAGGACAGGTTTTAAAATAGAAGAATAGGGCTATTAGAAACAATTCAGATTGTAAAAAATGTCTTAAAATGCCATCGCCTCACTTCTGAAAATACAATAAAGAAGACATTCGACACTTATTTAATTAAATATGGCTATAGAGAAAGCTCATTTCATTATTACAATTGTTTAACTTCCTTGTAACATGGGTTATAAAAATTCTCTAAATTCAACTTTGCCCCACTCCCATGCTTCCCCCACTCCCTACTCCCTTCAAGATTTTTTAATGAATTCAGTTACCTTGACACTGTGAGAAAAAAATTTATTTGGAATATTTCCATGGTATCATGTAACCAAAAACAAGATAAACAAAAGAGAGAGGGTGAGAGAAAACATGGTTGATTTTCATACATTTATATGAAAATCGGCCTTATTATTTCACAGTTGTATTGCCATAAAAATTATTTTATTAACATATATTTTGTGCAAAAATTCAACTATAAATAATGAGGCTGATTTTCATACAAAACTCACAGAAATAAACCTTATTACATATACAGCATATAGCCATGTATATATGCTACATATATTTTACAGTTATATACAGTTTATCATTCCTTTATCCCACTGGACTATGGCATAAGGGGCAGAAGCTGTAGTGGCTTATTTCCTGAGCAAGGACACCGTGTTTGCATACACTGCACATCCAGAATTGATACTCAGTGATTGGGCTTCCTGTGGCAACGCATGTTGGCAGTTTCCCTTCTCCACTGTAAAACGGGGAGAAACAATTCATTATACTTTAAAACTTCTCATTAGTCTAACTTTATTTAATACACTTAAAAAAAACCTAAAGAATAAAACTTCTGAGATGAACATCAAATACTTTCATTTAAAAAAGTTATTTCAAGAAAAAACCTTTCTTACAATGACAAAATAAAGCATGAATACACTTGTAAAAATAAATAAAATAGGGTATAATGTTAATGTGAATTGCTTCAAAATTCAGTGCTTTAATTCCTACATTAAACATTGTACATCTAGAAATCCAAGCTTCTAATAAGATAGAATGGCATCCACTAATTAAAATTAGCCTACCCTTCCATAAGGCTGTCCAATTCAGGTTTTCTGTTATCTTTTGAAGTATGTTTGGTGAAGATTTCTAAAGCAAGGTCTTCATACTGCTGTTTCTGTTCTGAACTGAGGGTCTCTAAAGATTTAAGTTTAATGAAAGCTTTTGAACAAGTCCCAAAGGCTCTGCTGGCGCATGCGCAGAGTGCTAGCAGAGAGTAGATCTCCACAGGAGGGATGATGTCTTCATAGTCTTTCAGGTGAAGAGCTAAGAAAAACAGGGCAATTGGGGTTTTTTAAAATAATTATTATGATATCATGAACATGCAAAAGAAGAATCTAAGTTAAGGTGATTTCATTGAACTTGCATGAACGAACTGAAAGCAAACAGTGTTGAGAGATGGGAGCACCAAGAGGAGGAACTAGGCTACATGATATCCAAGGTTCTGTGAAGCTGGCTAACAGCTCATCCTATGAAAAGAACCACCACCAAATGCTGCACATGGCTGTGCCAGCTCAGAAATACACACACACACACAAAATTTTGGTGTCAAAACATCCACATTTTCTTCAATTTATGTTAGAAATTTCTGTGGCACTTCATAAAAAGCAAATGAGTATTATACTATGTTAGTCATAAACTGCAAGATAATACCATGTTTCCTTTTGTTAAAAAAAAAGCAAAACAATATAAGCAAAACAGTATAAAATAATATGTTCTTTTCTCTGTGTTTCTTTGGACAGATTATTGCTTTTGTATTACTGCTTTTGTCATTTGTCTCACTGAAACAATAGGATTTTGTGAAAAAGTGAAAATGAGTCTCCAAGTTGTCAGTTGAGACAATTCAAGTTACAACATCTTATTTGCAATTATACTGGAGATGAAAAAATCTTTCTTTAAAATGCACTGTATTCTTGGGCCTGTTGGGGGTGGGGGGCTAGGGGAGGGATAGCATTAGGAGAAATACCTAATGTAGATGACGGTTGATGGGTGCAGCAAACCACCATGGCACATGTATACCTATGTAACAAGCCTGCACGTTCTGTACATGTACCCCAGAACTTAAAGTATAATAAAAAAAGCAGACTTAATATTAGATTTAATATTAAGATTTAATATTAGATTTATAACCAATTTGTATCTTTTTCTTCTCTAGACCTTGGAATCTTAAAAATACTTTGTTATAGTATATCAAAAACTTCATAAAACCAGTTTAAACAATATATTCATGTGTTTTACAATCAGAATCCTATAAACTGGTTCTGGGGTCAAGTATTTACAACAAAGTGTAGTAGAAAAAATGTATATAAAATGTAATCACTCAGTTACAATAAACAATATCCTCTAATTTCATATCCAAAGCATGATAGGTTCAAGGGTAATAATTTACAGGTCATACATTGTTTCAGATCGTCTTACCACTGACAAAAAAAAAAAAAATGAGGCATATAGAGATCTTCACCTAGTAGGTGAAGCATCTCAAGTTAAAGATCTAATTGTTCTTTTAAGTCTAGAAATGGTGTATAAATTGAATATGATACAGCTATTTTAAACAGTGTATAATTTATGTCACATATTAGTTAAAACTAAATGAAGGTCAGTTATAAAATAAACATAAAAATAATTTTTATATATAACTAATAACCAATTAGAAAAAAAATTTACAACCTCATTAATGACAA
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GCTGGAATTCATTGTGTTACATTTAGGTAAGTAAGTTAGTAACCTAGGAGACTTATTAGGCAAAGTTAATAGAGCGTGTATGTGTGACCACAGATAGAAAGGAGCAAGAGATACCAAATATTCATGAAGCACTAAAAATATGAAAAGCCACAAAGATACCAAATATTCATGATACACTAAGTATGCATGAGACATATAAAGCCTTCAGTATGTGTGAGAAGTTGATTCAATTACCCACTGGTGACACTCATTCTGGCCTGTCCTTACCCAAGAAATACAATAAAATTCATGACTGCTCAGCAGACTAATAGGCAAGCTATTGCTGTGGTGAAGTGTACTTGCCCCTGACACCCTTCTATAGAGCAAGTGTACATCGTTGGCCTCAGGCACATTTCATCTGATTGAGTCATCTGGCTCAAGCGGCCACTCTGGTCCTTTTTGTAACCCGACTATTAGGGGAAAGCGTATGTGACAGAATGTGAGTCAGGACATAAAAACATTACAAAACCCAGGATTCAGGTGTTGCGGTCTTTCCACTCCACTGGCACGTTACACTAACAGTGTTAATCTATCATTGCTTTCTCCTTGTTCCTCACTGTGTATTGCAAATTGGTTCAATAAACCAATGTATTTTGAGAATTTTTATTTGGTTTATAAGGCTTTCTGTTCCATGACCTCTGGAATAGCTTGCGAGGCAGTCTATTTAGAGGCTACCATTGTACCAAGGTAATTTTCCACGAGGCGCATGAATAGAGACAGAGACCTCAAAGACTTCTGGTCTTCTCTTTTTATTTAGGCCAATGAGCCCACTCTCTATCCTAAGCTCATCTAGGCTCTAAATCTCTTCTCATAGCTCACTATTCCCAATCTGCAACATGCTGAACTTGTCTCTGTCTCTACAAGACAAAAACATATGAGATTGAGAAAGTGTATTGTAGCTGCAAAAACAAAGTTGCGTATCTCTATGTATTGCCTCTACTATATGTAAGCCAAACCTCAATAAAATAATCTTGATGAAATAGTGCAAAGGTCTGGTCTTTAGCCACAAAATGGGAATTCATGAGAAATAAACAGAGAACATTATTAGCTATGTAAAAGACATAAGAAATGATCCATTATGGATCACAACTGTTTATCTTTCAAATTAATAATAAATGAAAACAGACGCATATCAAGAAAAAATCACTCCCTCAACAATACTTGTGTAAATAAACGGTCCAACTTAGTGACAATGTTTCAACAGAAGCTATAACTACAAAATGGATATTTCTGTTTAAGTTATCTTCATTATAAATAGAGGCAAGTTTTCTGCACAATCATATGAAAGTGTAAATTCCAAATGCCATCTCTTAAATGAGACTAAAAGGACAGGTTTTAAAATAGAAGAATAGGGCTATTAGAAACAATTCAGATTGTAAAAAATGTCTTAAAATGCCATCGCCTCACTTCTGAAAATACAATAAAGAAGACATTCGACACTTATTTAATTAAATATGGCTATAGAGAAAGCTCATTTCATTATTACAATTGTTTAACTTCCTTGTAACATGGGTTATAAAAATTCTCTAAATTCAACTTTGCCCCACTCCCATGCTTCCCCCACTCCCTACTCCCTTCAAGATTTTTTAATGAATTCAGTTACCTTGACACTGTGAGAAAAAAATTTATTTGGAATATTTCCATGGTATCATGTAACCAAAAACAAGATAAACAAAAGAGAGAGGGTGAGAGAAAACATGGTTGATTTTCATACATTTATATGAAAATCGGCCTTATTATTTCACAGTTGTATTGCCATAAAAATTATTTTATTAACATATATTTTGTGCAAAAATTCAACTATAAATAATGAGGCTGATTTTCATACAAAACTCACAGAAATAAACCTTATTACATATACAGCATATAGCCATGTATATATGCTACATATATTTTACAGTTATATACAGTTTATCATTCCTTTATCCCACTGGACTATGGCATAAGGGGCAGAAGCTGTAGTGGCTTATTTCCTGAGCAAGGACACCGTGTTTGCATACACTGCACATACAGAATTGATACTCAGTGATTGGGCTTCCTGTGGCAACGCATGTTGGCAGTTTCCCTTCTCCACTGTAAAACGGGGAGAAACAATTCATTATACTTTAAAACTTCTCATTAGTCTAACTTTATTTAATACACTTAAAAAAAACCTAAAGAATAAAACTTCTGAGATGAACATCAAATACTTTCATTTAAAAAAGTTATTTCAAGAAAAAACCTTTCTTACAATGACAAAATAAAGCATGAATACACTTGTAAAAATAAATAAAATAGGGTATAATGTTAATGTGAATTGCTTCAAAATTCAGTGCTTTAATTCCTACATTAAACATTGTACATCTAGAAATCCAAGCTTCTAATAAGATAGAATGGCATCCACTAATTAAAATTAGCCTACCCTTCCATAAGGCTGTCCAATTCAGGTTTTCTGTTATCTTTTGAAGTATGTTTGGTGAAGATTTCTAAAGCAAGGTCTTCATACTGCTGTTTCTGTTCTGAACTGAGGGTCTCTAAAGATTTAAGTTTAATGAAAGCTTTTGAACAAGTCCCAAAGGCTCTGCTGGCGCATGCGCAGAGTGCTAGCAGAGAGTAGATCTCCACAGGAGGGATGATGTCTTCATAGTCTTTCAGGTGAAGAGCTAAGAAAAACAGGGCAATTGGGGTTTTTTAAAATAATTATTATGATATCATGAACATGCAAAAGAAGAATCTAAGTTAAGGTGATTTCATTGAACTTGCATGAACGAACTGAAAGCAAACAGTGTTGAGAGATGGGAGCACCAAGAGGAGGAACTAGGCTACATGATATCCAAGGTTCTGTGAAGCTGGCTAACAGCTCATCCTATGAAAAGAACCACCACCAAATGCTGCACATGGCTGTGCCAGCTCAGAAATACACACACACACACAAAATTTTGGTGTCAAAACATCCACATTTTCTTCAATTTATGTTAGAAATTTCTGTGGCACTTCATAAAAAGCAAATGAGTATTATACTATGTTAGTCATAAACTGCAAGATAATACCATGTTTCCTTTTGTTAAAAAAAAAGCAAAACAATATAAGCAAAACAGTATAAAATAATATGTTCTTTTCTCTGTGTTTCTTTGGACAGATTATTGCTTTTGTATTACTGCTTTTGTCATTTGTCTCACTGAAACAATAGGATTTTGTGAAAAAGTGAAAATGAGTCTCCAAGTTGTCAGTTGAGACAATTCAAGTTACAACATCTTATTTGCAATTATACTGGAGATGAAAAAATCTTTCTTTAAAATGCACTGTATTCTTGGGCCTGTTGGGGGTGGGGGGCTAGGGGAGGGATAGCATTAGGAGAAATACCTAATGTAGATGACGGTTGATGGGTGCAGCAAACCACCATGGCACATGTATACCTATGTAACAAGCCTGCACGTTCTGTACATGTACCCCAGAACTTAAAGTATAATAAAAAAAGCAGACTTAATATTAGATTTAATATTAAGATTTAATATTAGATTTATAACCAATTTGTATCTTTTTCTTCTCTAGACCTTGGAATCTTAAAAATACTTTGTTATAGTATATCAAAAACTTCATAAAACCAGTTTAAACAATATATTCATGTGTTTTACAATCAGAATCCTATAAACTGGTTCTGGGGTCAAGTATTTACAACAAAGTGTAGTAGAAAAAATGTATATAAAATGTAATCACTCAGTTACAATAAACAATATCCTCTAATTTCATATCCAAAGCATGATAGGTTCAAGGGTAATAATTTACAGGTCATACATTGTTTCAGATCGTCTTACCACTGACAAAAAAAAAAAAAATGAGGCATATAGAGATCTTCACCTAGTAGGTGAAGCATCTCAAGTTAAAGATCTAATTGTTCTTTTAAGTCTAGAAATGGTGTATAAATTGAATATGATACAGCTATTTTAAACAGTGTATAATTTATGTCACATATTAGTTAAAACTAAATGAAGGTCAGTTATAAAATAAACATAAAAATAATTTTTATATATAACTAATAACCAATTAGAAAAAAAATTTACAACCTCATTAATGACAA
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Task1_train_3127
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Gene WDR35 (WD repeat domain 35) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Cranioectodermal dysplasia 2
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TACCTTCAGAGGGTCACTGGAGATGAAAATGATCAAGCAGGGAATATCAACATTAAATATTCATCTCCTAATTCTCAAAGAAAATGTGCTTTATCAGTGAATTAAAACTTTGCACACAGATGGCATCTTTTTCTCTCAAATAATCTGAAGATTTACAGCTTAGATAAAGGTATGAATCTAGAATTCTTAACAACACTCAAATGGATAAAAATATATTGTTATTAGCTGTCAAACAATAACTTATCTCCTAAATAATAATATAGAATATTATGTCCTTAAGGAACATACTATTAAATATAATAGTATGTAAAACAGATCTTCCCTGCTTTGAAGAGATCATGTTCTTACATGATCAATAAGCAGCTAGAAAAGCAAATGAGCAGAGTAGCTAAACCAGCTGCGACCACAGTAAGCCAGTGTCCTTGTGAATGAAAAGAACAGAACAGCATCATTTATAAAGAAATCCAGACAGTGGGAAGGTTTTAAGAAATCCATCTAGCTCTAAATCTAACAGAAATCGAACTACATGCCAAACCAGAAAACAAATTCAAATTAAAAAACAGTATGTTTTTAAAAGGCTGTTCTGTTAAAACTACTTAAGAAACTCTTTCCACCAGGCAAAGATTTCACTTGGTACCAGACTGACCATGTGTGCTATAGACACATTATGAGCAGCCAGATACAACAAACATTCTCCCTTCTCCAGGCATATGATTTGTGATTTAGTATGAGCAGGGCTAAGGATAGAAAAAGACTCTAACATTCAAAAAGTATTCTACTCCCATCCTCAAGGTTATCCTGTGGATTACCTGTCAAATTCCCACAATTGTTTTGTGGCAAGGATTAAATTTCCCTTGGACCCTTGAAAGAAGCCCATGCTTACAGGTCAAATGCAGCAGCCCTGAATCTGAATGCCTTTCCTTTGAACTATTTCTCAGGGTCGAAGAATCACAAAGATCCTAAGACTTGCAAAAGCTTTAACAGAGCCTTTGAGAGCACTTTACATCAGGGCATTTTACATCCAAAATTCCTGAGTAGGGCTCAAATGGGGAAATGTGAAAATAATTTAGGATATTAAAGGGGCAAACAGTTTACCACTAAATAAATTACTCCAGAAACCCTTTGGCAGCTCAGGGGCCCAAGCATGCAATTTCTTCCCAAGAAGGAAGCTATACATGCAAACAAATGGAAATTAATGATATAAAGCATTTATTAACTTATTCCTTATTATTTACAAGAGTAGAGTGCAGCAGAAGTACAGAAAATTCCAAATTGAAAATCCATTACTAATTCAAAAGTCATTTAAAAGATTTATCTTCTTAATGATGTTTTGATTAGGTTACCACTCGGATTATTTTGTATTTCCTAAATACAACAGCTGAGAGTTGGCCAGAGTAGACTAAGTGACAGGAAAATCCAGAGCATAGAAATTAGCTGATGTGAGCCACAAGCAGAAAATCAAAATGTAACCTTAAAAATGAGAACAAAGGGGACTTCCTCATACCCAAAAGAGAGATTAATCCCTGCCTGCACTTGCATATTTGTAAGAATATCTGGGTTAAGAAAGAACACAGATTTGTGAACGATATGGTAAATGTAAATATAAATAAGACAAAGTAAGCACAGAATTAAGTGAATAAAGAGACAGAAAAGAATGAATGGACAAGGAAATTTGAAAACTATATTTTTTTATTAGGTTCTTTTCAGAAATTCTGGTAAATAAGGCTACTGATTTTGTTTTCTTAAGTTTGACAAGGGAAAAAAAGACTAGTGACCATGGCTCCACCTTTTAAAAAGAACAGATAAATAAATGCCTAGGAAGTACCTTTCAGAGAAAGTAGAGAATATTTAATAGATAAGTATTTTCTCACCTAAGACCAAATATTTTTAAAATCCACAGAAATGTTCCTATTTATTTTCAGAAATTCATGCAGCCGTGTTGGCACTGCTATTCAACAAACTTCTTAAAGAAACAAAGGGGAATCATCCAGGTTTTTATATTTGGCTCATTATTTATAGACTGTTAACACTCATTTCTTGTTTTTACCTCAGGATCCAAGTTTCTGAAAACATACATTCTTGTCTTCTCCATCATTGCAAACAAATCAGGATTATCTTTGGCCCACTTCATATCCCAGACATCTCTTCGTTCCAATTTTAACAACTCTCCAACTACTTGCTGTCCCGTACTGTCCGTTACTCGAGCATCCAAGTCAAAGAAAGTCAGAACTCCTGAGATGTCTATGATAGCAAGACGGCTAAAAACAATGCAATTAGAGAAAAGGAAAAAACTATAAAATTACTATCAGCAATCATGAGAATAATTACCTATAGCCATTCTTCTTCAAAATCAGATTATCAGAAACCTGGAATACAGTAGAAATGGCTTAAAATTTTGTTAAATAAATTTGATACAAGATATGGACTACTCTCTATTTTGCTCTCTTCTGAGGAAAATGTATCCAGAGACAAAACCAATTGGTATGAAATATAAAATAGTCTCAATGCTTTTAAGCTTTAAGAGTAAAAAATTATACTAGTACTTCCACACGCCCAATTAAAAACATTTAAACCAAATGCAGTATAAAATAAAACCATACTGAATTTTAAGACAAGTTCATAATAGACACGCCCATCTTTACATTTATTACATATAAATCTAACAATCCCAACTGATCATTTCTAAGTCTAACATCTACATGAGCAGAGTTTTCAGGCTTACCTAGAGTTGCAATTCAAGGATAACTGGTAGGCTCGACAATTAAGGGAATATTTTTGAATCAAACCAACATTAGGTAGACTGTATCTCTGAATGGTGCCAGATTCACGACCCTATGGAAATTACTTTTGATTACTTAAGCATACGTGTATCATAATAATATTAAACTACAACTATTTCTCTATATGTCTATACATTTGTCTTAAAACCAAAGTGATGTCACAGCAAATTCTCAATTCTGATAATGAATCATGTCCTTAAGTACATATTTACCTACTAATTTAATTAAACCTTTTTCAAACAGCTGAAGTATTCTAATTTTTTTTCATGTAATATTCAAGAAAGAAGTCAGAAACCTAGCACTTTGGCAATACACAAATTCTTACATCACAAGGAAAAAAAATCTAAAGTTATTTATATTTGTTATCTAGGTTAATATTCAGGGCACATTAAAAGCTAAAGCAAAGTACTTGTTGAGTTAAATTACATATGTATATGAAAAATCAACAGAAGATCATATGATATAGCTGTTACTGAAGGTCTAGGTTTTTATCCTATAGTCATCTATCTGATACTAGTTTTTAGCAAAAGGAAAGATGATCTGAATGCAGGGATACTATGAATATTAGTTTAAATAAGTTTAAAAAATAAAGCAGCATATAATTTTGTACACAACTCAGGGCAAATCTTAAGGTTGACATATCAACAGTAAGTATAATGCCATGAGAGAACTGTGGGTTTCAAACCCTTGGCTGCCTCAGGCCATGGCAGTGGGACAAAGTGGAAGCCTCCACACAGCTGATCTTTAACTCTCTTCTTTTTAATCAGAGAACCACTGCTTTTGCAGCATGAGTCTCATGAGGGCTTATCAGAAAGGAGGGAATACTATAGAAATACTATGCTCTTAAGATTTTTCCCCCCATAAAATTAGCTCATGGCTGAGGAATGTAACTAGAACTAGAATATATACTATTAAGGTTTTGTTTACATAATTCAAATGCAATAACCCCAGCAGCATTACTGTATAAAAGTAAACATTAATTTCTAAAATTAATATTTTCAAATCTCAGAGCTCAAGAAAAGACACTATGCCATTGATTCTATTTGAAAAATTCAGCTGAAATTTGCCATAGGCTTCTCTATTTTACTGGCTGGCAAACATGTTACCTCGTCATTCTAAGTCTTATGAAAGTGGCTGAGCCAAAGCACTTTCTCCAACATAAAATATCGGGCTACACAAAGGAGGAAACTTTCTAATACCTACTACCACCATGCAATCTGCCCCACCACCATGCAATCTTCCACAGGGCTCATTCCACTCAGTGTTAGAAACTGTAAGTGTACTCTGTCTTCTCGGCTGGTCATCCCTGTACTGCT
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TACCTTCAGAGGGTCACTGGAGATGAAAATGATCAAGCAGGGAATATCAACATTAAATATTCATCTCCTAATTCTCAAAGAAAATGTGCTTTATCAGTGAATTAAAACTTTGCACACAGATGGCATCTTTTTCTCTCAAATAATCTGAAGATTTACAGCTTAGATAAAGGTATGAATCTAGAATTCTTAACAACACTCAAATGGATAAAAATATATTGTTATTAGCTGTCAAACAATAACTTATCTCCTAAATAATAATATAGAATATTATGTCCTTAAGGAACATACTATTAAATATAATAGTATGTAAAACAGATCTTCCCTGCTTTGAAGAGATCATGTTCTTACATGATCAATAAGCAGCTAGAAAAGCAAATGAGCAGAGTAGCTAAACCAGCTGCGACCACAGTAAGCCAGTGTCCTTGTGAATGAAAAGAACAGAACAGCATCATTTATAAAGAAATCCAGACAGTGGGAAGGTTTTAAGAAATCCATCTAGCTCTAAATCTAACAGAAATCGAACTACATGCCAAACCAGAAAACAAATTCAAATTAAAAAACAGTATGTTTTTAAAAGGCTGTTCTGTTAAAACTACTTAAGAAACTCTTTCCACCAGGCAAAGATTTCACTTGGTACCAGACTGACCATGTGTGCTATAGACACATTATGAGCAGCCAGATACAACAAACATTCTCCCTTCTCCAGGCATATGATTTGTGATTTAGTATGAGCAGGGCTAAGGATAGAAAAAGACTCTAACATTCAAAAAGTATTCTACTCCCATCCTCAAGGTTATCCTGTGGATTACCTGTCAAATTCCCACAATTGTTTTGTGGCAAGGATTAAATTTCCCTTGGACCCTTGAAAGAAGCCCATGCTTACAGGTCAAATGCAGCAGCCCTGAATCTGAATGCCTTTCCTTTGAACTATTTCTCAGGGTCGAAGAATCACAAAGATCCTAAGACTTGCAAAAGCTTTAACAGAGCCTTTGAGAGCACTTTACATCAGGGCATTTTACATCCAAAATTCCTGAGTAGGGCTCAAATGGGGAAATGTGAAAATAATTTAGGATATTAAAGGGGCAAACAGTTTACCACTAAATAAATTACTCCAGAAACCCTTTGGCAGCTCAGGGGCCCAAGCATGCAATTTCTTCCCAAGAAGGAAGCTATACATGCAAACAAATGGAAATTAATGATATAAAGCATTTATTAACTTATTCCTTATTATTTACAAGAGTAGAGTGCAGCAGAAGTACAGAAAATTCCAAATTGAAAATCCATTACTAATTCAAAAGTCATTTAAAAGATTTATCTTCTTAATGATGTTTTGATTAGGTTACCACTCGGATTATTTTGTATTTCCTAAATACAACAGCTGAGAGTTGGCCAGAGTAGACTAAGTGACAGGAAAATCCAGAGCATAGAAATTAGCTGATGTGAGCCACAAGCAGAAAATCAAAATGTAACCTTAAAAATGAGAACAAAGGGGACTTCCTCATACCCAAAAGAGAGATTAATCCCTGCCTGCACTTGCATATTTGTAAGAATATCTGGGTTAAGAAAGAACACAGATTTGTGAACGATATGGTAAATGTAAATATAAATAAGACAAAGTAAGCACAGAATTAAGTGAATAAAGAGACAGAAAAGAATGAATGGACAAGGAAATTTGAAAACTATATTTTTTTATTAGGTTCTTTTCAGAAATTCTGGTAAATAAGGCTACTGATTTTGTTTTCTTAAGTTTGACAAGGGAAAAAAAGACTAGTGACCATGGCTCCACCTTTTAAAAAGAACAGATAAATAAATGCCTAGGAAGTACCTTTCAGAGAAAGTAGAGAATATTTAATAGATAAGTATTTTCTCACCTAAGACCAAATATTTTTAAAATCCACAGAAATGTTCCTATTTATTTTCAGAAATTCATGCAGCCGTGTTGGCACTGCTATTCAACAAACTTCTTAAAGAAACAAAGGGGAATCATCCAGGTTTTTATATTTGGCTCATTATTTATAGACTGTTAACACTCATTTCTTGTTTTTACCCCAGGATCCAAGTTTCTGAAAACATACATTCTTGTCTTCTCCATCATTGCAAACAAATCAGGATTATCTTTGGCCCACTTCATATCCCAGACATCTCTTCGTTCCAATTTTAACAACTCTCCAACTACTTGCTGTCCCGTACTGTCCGTTACTCGAGCATCCAAGTCAAAGAAAGTCAGAACTCCTGAGATGTCTATGATAGCAAGACGGCTAAAAACAATGCAATTAGAGAAAAGGAAAAAACTATAAAATTACTATCAGCAATCATGAGAATAATTACCTATAGCCATTCTTCTTCAAAATCAGATTATCAGAAACCTGGAATACAGTAGAAATGGCTTAAAATTTTGTTAAATAAATTTGATACAAGATATGGACTACTCTCTATTTTGCTCTCTTCTGAGGAAAATGTATCCAGAGACAAAACCAATTGGTATGAAATATAAAATAGTCTCAATGCTTTTAAGCTTTAAGAGTAAAAAATTATACTAGTACTTCCACACGCCCAATTAAAAACATTTAAACCAAATGCAGTATAAAATAAAACCATACTGAATTTTAAGACAAGTTCATAATAGACACGCCCATCTTTACATTTATTACATATAAATCTAACAATCCCAACTGATCATTTCTAAGTCTAACATCTACATGAGCAGAGTTTTCAGGCTTACCTAGAGTTGCAATTCAAGGATAACTGGTAGGCTCGACAATTAAGGGAATATTTTTGAATCAAACCAACATTAGGTAGACTGTATCTCTGAATGGTGCCAGATTCACGACCCTATGGAAATTACTTTTGATTACTTAAGCATACGTGTATCATAATAATATTAAACTACAACTATTTCTCTATATGTCTATACATTTGTCTTAAAACCAAAGTGATGTCACAGCAAATTCTCAATTCTGATAATGAATCATGTCCTTAAGTACATATTTACCTACTAATTTAATTAAACCTTTTTCAAACAGCTGAAGTATTCTAATTTTTTTTCATGTAATATTCAAGAAAGAAGTCAGAAACCTAGCACTTTGGCAATACACAAATTCTTACATCACAAGGAAAAAAAATCTAAAGTTATTTATATTTGTTATCTAGGTTAATATTCAGGGCACATTAAAAGCTAAAGCAAAGTACTTGTTGAGTTAAATTACATATGTATATGAAAAATCAACAGAAGATCATATGATATAGCTGTTACTGAAGGTCTAGGTTTTTATCCTATAGTCATCTATCTGATACTAGTTTTTAGCAAAAGGAAAGATGATCTGAATGCAGGGATACTATGAATATTAGTTTAAATAAGTTTAAAAAATAAAGCAGCATATAATTTTGTACACAACTCAGGGCAAATCTTAAGGTTGACATATCAACAGTAAGTATAATGCCATGAGAGAACTGTGGGTTTCAAACCCTTGGCTGCCTCAGGCCATGGCAGTGGGACAAAGTGGAAGCCTCCACACAGCTGATCTTTAACTCTCTTCTTTTTAATCAGAGAACCACTGCTTTTGCAGCATGAGTCTCATGAGGGCTTATCAGAAAGGAGGGAATACTATAGAAATACTATGCTCTTAAGATTTTTCCCCCCATAAAATTAGCTCATGGCTGAGGAATGTAACTAGAACTAGAATATATACTATTAAGGTTTTGTTTACATAATTCAAATGCAATAACCCCAGCAGCATTACTGTATAAAAGTAAACATTAATTTCTAAAATTAATATTTTCAAATCTCAGAGCTCAAGAAAAGACACTATGCCATTGATTCTATTTGAAAAATTCAGCTGAAATTTGCCATAGGCTTCTCTATTTTACTGGCTGGCAAACATGTTACCTCGTCATTCTAAGTCTTATGAAAGTGGCTGAGCCAAAGCACTTTCTCCAACATAAAATATCGGGCTACACAAAGGAGGAAACTTTCTAATACCTACTACCACCATGCAATCTGCCCCACCACCATGCAATCTTCCACAGGGCTCATTCCACTCAGTGTTAGAAACTGTAAGTGTACTCTGTCTTCTCGGCTGGTCATCCCTGTACTGCT
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Task1_train_3128
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Mutation context: Chromosome 2, Gene WDR35 (WD repeat domain 35). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Cranioectodermal dysplasia 2
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AAAGACTCTAACATTCAAAAAGTATTCTACTCCCATCCTCAAGGTTATCCTGTGGATTACCTGTCAAATTCCCACAATTGTTTTGTGGCAAGGATTAAATTTCCCTTGGACCCTTGAAAGAAGCCCATGCTTACAGGTCAAATGCAGCAGCCCTGAATCTGAATGCCTTTCCTTTGAACTATTTCTCAGGGTCGAAGAATCACAAAGATCCTAAGACTTGCAAAAGCTTTAACAGAGCCTTTGAGAGCACTTTACATCAGGGCATTTTACATCCAAAATTCCTGAGTAGGGCTCAAATGGGGAAATGTGAAAATAATTTAGGATATTAAAGGGGCAAACAGTTTACCACTAAATAAATTACTCCAGAAACCCTTTGGCAGCTCAGGGGCCCAAGCATGCAATTTCTTCCCAAGAAGGAAGCTATACATGCAAACAAATGGAAATTAATGATATAAAGCATTTATTAACTTATTCCTTATTATTTACAAGAGTAGAGTGCAGCAGAAGTACAGAAAATTCCAAATTGAAAATCCATTACTAATTCAAAAGTCATTTAAAAGATTTATCTTCTTAATGATGTTTTGATTAGGTTACCACTCGGATTATTTTGTATTTCCTAAATACAACAGCTGAGAGTTGGCCAGAGTAGACTAAGTGACAGGAAAATCCAGAGCATAGAAATTAGCTGATGTGAGCCACAAGCAGAAAATCAAAATGTAACCTTAAAAATGAGAACAAAGGGGACTTCCTCATACCCAAAAGAGAGATTAATCCCTGCCTGCACTTGCATATTTGTAAGAATATCTGGGTTAAGAAAGAACACAGATTTGTGAACGATATGGTAAATGTAAATATAAATAAGACAAAGTAAGCACAGAATTAAGTGAATAAAGAGACAGAAAAGAATGAATGGACAAGGAAATTTGAAAACTATATTTTTTTATTAGGTTCTTTTCAGAAATTCTGGTAAATAAGGCTACTGATTTTGTTTTCTTAAGTTTGACAAGGGAAAAAAAGACTAGTGACCATGGCTCCACCTTTTAAAAAGAACAGATAAATAAATGCCTAGGAAGTACCTTTCAGAGAAAGTAGAGAATATTTAATAGATAAGTATTTTCTCACCTAAGACCAAATATTTTTAAAATCCACAGAAATGTTCCTATTTATTTTCAGAAATTCATGCAGCCGTGTTGGCACTGCTATTCAACAAACTTCTTAAAGAAACAAAGGGGAATCATCCAGGTTTTTATATTTGGCTCATTATTTATAGACTGTTAACACTCATTTCTTGTTTTTACCTCAGGATCCAAGTTTCTGAAAACATACATTCTTGTCTTCTCCATCATTGCAAACAAATCAGGATTATCTTTGGCCCACTTCATATCCCAGACATCTCTTCGTTCCAATTTTAACAACTCTCCAACTACTTGCTGTCCCGTACTGTCCGTTACTCGAGCATCCAAGTCAAAGAAAGTCAGAACTCCTGAGATGTCTATGATAGCAAGACGGCTAAAAACAATGCAATTAGAGAAAAGGAAAAAACTATAAAATTACTATCAGCAATCATGAGAATAATTACCTATAGCCATTCTTCTTCAAAATCAGATTATCAGAAACCTGGAATACAGTAGAAATGGCTTAAAATTTTGTTAAATAAATTTGATACAAGATATGGACTACTCTCTATTTTGCTCTCTTCTGAGGAAAATGTATCCAGAGACAAAACCAATTGGTATGAAATATAAAATAGTCTCAATGCTTTTAAGCTTTAAGAGTAAAAAATTATACTAGTACTTCCACACGCCCAATTAAAAACATTTAAACCAAATGCAGTATAAAATAAAACCATACTGAATTTTAAGACAAGTTCATAATAGACACGCCCATCTTTACATTTATTACATATAAATCTAACAATCCCAACTGATCATTTCTAAGTCTAACATCTACATGAGCAGAGTTTTCAGGCTTACCTAGAGTTGCAATTCAAGGATAACTGGTAGGCTCGACAATTAAGGGAATATTTTTGAATCAAACCAACATTAGGTAGACTGTATCTCTGAATGGTGCCAGATTCACGACCCTATGGAAATTACTTTTGATTACTTAAGCATACGTGTATCATAATAATATTAAACTACAACTATTTCTCTATATGTCTATACATTTGTCTTAAAACCAAAGTGATGTCACAGCAAATTCTCAATTCTGATAATGAATCATGTCCTTAAGTACATATTTACCTACTAATTTAATTAAACCTTTTTCAAACAGCTGAAGTATTCTAATTTTTTTTCATGTAATATTCAAGAAAGAAGTCAGAAACCTAGCACTTTGGCAATACACAAATTCTTACATCACAAGGAAAAAAAATCTAAAGTTATTTATATTTGTTATCTAGGTTAATATTCAGGGCACATTAAAAGCTAAAGCAAAGTACTTGTTGAGTTAAATTACATATGTATATGAAAAATCAACAGAAGATCATATGATATAGCTGTTACTGAAGGTCTAGGTTTTTATCCTATAGTCATCTATCTGATACTAGTTTTTAGCAAAAGGAAAGATGATCTGAATGCAGGGATACTATGAATATTAGTTTAAATAAGTTTAAAAAATAAAGCAGCATATAATTTTGTACACAACTCAGGGCAAATCTTAAGGTTGACATATCAACAGTAAGTATAATGCCATGAGAGAACTGTGGGTTTCAAACCCTTGGCTGCCTCAGGCCATGGCAGTGGGACAAAGTGGAAGCCTCCACACAGCTGATCTTTAACTCTCTTCTTTTTAATCAGAGAACCACTGCTTTTGCAGCATGAGTCTCATGAGGGCTTATCAGAAAGGAGGGAATACTATAGAAATACTATGCTCTTAAGATTTTTCCCCCCATAAAATTAGCTCATGGCTGAGGAATGTAACTAGAACTAGAATATATACTATTAAGGTTTTGTTTACATAATTCAAATGCAATAACCCCAGCAGCATTACTGTATAAAAGTAAACATTAATTTCTAAAATTAATATTTTCAAATCTCAGAGCTCAAGAAAAGACACTATGCCATTGATTCTATTTGAAAAATTCAGCTGAAATTTGCCATAGGCTTCTCTATTTTACTGGCTGGCAAACATGTTACCTCGTCATTCTAAGTCTTATGAAAGTGGCTGAGCCAAAGCACTTTCTCCAACATAAAATATCGGGCTACACAAAGGAGGAAACTTTCTAATACCTACTACCACCATGCAATCTGCCCCACCACCATGCAATCTTCCACAGGGCTCATTCCACTCAGTGTTAGAAACTGTAAGTGTACTCTGTCTTCTCGGCTGGTCATCCCTGTACTGCTTTCATAAATAGCTGTTTTTGCAAATGGTTAATTATTAGCGAGGAAAGCTTTAAAACTTTCTTATTTCTCATACTGAACTTATATTAAGGGTACAGTAAAACTTGGGGTGCCCATAAGATGATATTCAAAACTTTACTGTAATTTTTTTTTTTAGAGACAAGGTTTCACTATGTTCTCAGTCTGGTCTCCATTTCCTGGCCTCAAGCAATCCTCCTGCTTCAGCTTCCCAAGTAACTGTGATTACAGACATGGGGCACACACCTGGCTCCTACCATATTTTTATAATTTAAAGAATTATTATTCATAAAATAAGTTTTTGCAAAACTTACCACAATCAATATCTTATCTGATGCAGTTATGGCACAAATTGGATCCCTTGTGCCCTAAAATAAATTAATCAATCATTACTATTCAACAAACATTTATTGAATAACTAACCTGGTACAACGTAGTATGCAATTCACTAAGCAGTCAATATTTCTTAACTTAACCAACATTTATTTACTGCTGAGCACCTACTATGTGCCAACCACTGAACTAAGCACTAGAGATACTCAGATGAAATCTTCATCTTCAGAGATTACTGAAAAGTCTATTGAGGAAGACAGTGAACTAAACACCTCATTGCAGGACAGTATGATAAAAGAAGAGACAGAAACAGAGGTTATGACAGTGCAGAGAAAGGAGTACCTAACTTACACCAAGACAGGCAAAAACCTGAGCTCAGGCCTAAAAGAGAAACAGACAGC
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AAAGACTCTAACATTCAAAAAGTATTCTACTCCCATCCTCAAGGTTATCCTGTGGATTACCTGTCAAATTCCCACAATTGTTTTGTGGCAAGGATTAAATTTCCCTTGGACCCTTGAAAGAAGCCCATGCTTACAGGTCAAATGCAGCAGCCCTGAATCTGAATGCCTTTCCTTTGAACTATTTCTCAGGGTCGAAGAATCACAAAGATCCTAAGACTTGCAAAAGCTTTAACAGAGCCTTTGAGAGCACTTTACATCAGGGCATTTTACATCCAAAATTCCTGAGTAGGGCTCAAATGGGGAAATGTGAAAATAATTTAGGATATTAAAGGGGCAAACAGTTTACCACTAAATAAATTACTCCAGAAACCCTTTGGCAGCTCAGGGGCCCAAGCATGCAATTTCTTCCCAAGAAGGAAGCTATACATGCAAACAAATGGAAATTAATGATATAAAGCATTTATTAACTTATTCCTTATTATTTACAAGAGTAGAGTGCAGCAGAAGTACAGAAAATTCCAAATTGAAAATCCATTACTAATTCAAAAGTCATTTAAAAGATTTATCTTCTTAATGATGTTTTGATTAGGTTACCACTCGGATTATTTTGTATTTCCTAAATACAACAGCTGAGAGTTGGCCAGAGTAGACTAAGTGACAGGAAAATCCAGAGCATAGAAATTAGCTGATGTGAGCCACAAGCAGAAAATCAAAATGTAACCTTAAAAATGAGAACAAAGGGGACTTCCTCATACCCAAAAGAGAGATTAATCCCTGCCTGCACTTGCATATTTGTAAGAATATCTGGGTTAAGAAAGAACACAGATTTGTGAACGATATGGTAAATGTAAATATAAATAAGACAAAGTAAGCACAGAATTAAGTGAATAAAGAGACAGAAAAGAATGAATGGACAAGGAAATTTGAAAACTATATTTTTTTATTAGGTTCTTTTCAGAAATTCTGGTAAATAAGGCTACTGATTTTGTTTTCTTAAGTTTGACAAGGGAAAAAAAGACTAGTGACCATGGCTCCACCTTTTAAAAAGAACAGATAAATAAATGCCTAGGAAGTACCTTTCAGAGAAAGTAGAGAATATTTAATAGATAAGTATTTTCTCACCTAAGACCAAATATTTTTAAAATCCACAGAAATGTTCCTATTTATTTTCAGAAATTCATGCAGCCGTGTTGGCACTGCTATTCAACAAACTTCTTAAAGAAACAAAGGGGAATCATCCAGGTTTTTATATTTGGCTCATTATTTATAGACTGTTAACACTCATTTCTTGTTTTTACCTCAGGATCCAAGTTTCTGAAAACATACATTCTTGTCTTCTCCATCATTGCAAACAAATCAGGATTATCTTTGGCCCACTTCATATCCCAGACATCTCTTCGTTCCAATTTTAACAACTCTCCAACTACTTGCTGTCCCGTACTGTCCGTTACTCGAGCATCCAAGTCAAAGAAAGTCAGAACTCCTGAGATGTCTATGATAGCAAGACGGCTAAAAACAATGCAATTAGAGAAAAGGAAAAAACTATAAAATTACTATCAGCAATCATGAGAATAATTACCTATAGCCATTCTTCTTCAAAATCAGATTATCAGAAACCTGGAATACAGTAGAAATGGCTTAAAATTTTGTTAAATAAATTTGATACAAGATATGGACTACTCTCTATTTTGCTCTCTTCTGAGGAAAATGTATCCAGAGACAAAACCAATTGGTATGAAATATAAAATAGTCTCAATGCTTTTAAGCTTTAAGAGTAAAAAATTATACTAGTACTTCCACACGCCCAATTAAAAACATTTAAACCAAATGCAGTATAAAATAAAACCATACTGAATTTTAAGACAAGTTCATAATAGACACGCCCATCTTTACATTTATTACATATAAATCTAACAATCCCAACTGATCATTTCTAAGTCTAACATCTACATGAGCAGAGTTTTCAGGCTTACCTAGAGTTGCAATTCAAGGATAACTGGTAGGCTCGACAATTAAGGGAATATTTTTGAATCAAACCAACATTAGGTGGACTGTATCTCTGAATGGTGCCAGATTCACGACCCTATGGAAATTACTTTTGATTACTTAAGCATACGTGTATCATAATAATATTAAACTACAACTATTTCTCTATATGTCTATACATTTGTCTTAAAACCAAAGTGATGTCACAGCAAATTCTCAATTCTGATAATGAATCATGTCCTTAAGTACATATTTACCTACTAATTTAATTAAACCTTTTTCAAACAGCTGAAGTATTCTAATTTTTTTTCATGTAATATTCAAGAAAGAAGTCAGAAACCTAGCACTTTGGCAATACACAAATTCTTACATCACAAGGAAAAAAAATCTAAAGTTATTTATATTTGTTATCTAGGTTAATATTCAGGGCACATTAAAAGCTAAAGCAAAGTACTTGTTGAGTTAAATTACATATGTATATGAAAAATCAACAGAAGATCATATGATATAGCTGTTACTGAAGGTCTAGGTTTTTATCCTATAGTCATCTATCTGATACTAGTTTTTAGCAAAAGGAAAGATGATCTGAATGCAGGGATACTATGAATATTAGTTTAAATAAGTTTAAAAAATAAAGCAGCATATAATTTTGTACACAACTCAGGGCAAATCTTAAGGTTGACATATCAACAGTAAGTATAATGCCATGAGAGAACTGTGGGTTTCAAACCCTTGGCTGCCTCAGGCCATGGCAGTGGGACAAAGTGGAAGCCTCCACACAGCTGATCTTTAACTCTCTTCTTTTTAATCAGAGAACCACTGCTTTTGCAGCATGAGTCTCATGAGGGCTTATCAGAAAGGAGGGAATACTATAGAAATACTATGCTCTTAAGATTTTTCCCCCCATAAAATTAGCTCATGGCTGAGGAATGTAACTAGAACTAGAATATATACTATTAAGGTTTTGTTTACATAATTCAAATGCAATAACCCCAGCAGCATTACTGTATAAAAGTAAACATTAATTTCTAAAATTAATATTTTCAAATCTCAGAGCTCAAGAAAAGACACTATGCCATTGATTCTATTTGAAAAATTCAGCTGAAATTTGCCATAGGCTTCTCTATTTTACTGGCTGGCAAACATGTTACCTCGTCATTCTAAGTCTTATGAAAGTGGCTGAGCCAAAGCACTTTCTCCAACATAAAATATCGGGCTACACAAAGGAGGAAACTTTCTAATACCTACTACCACCATGCAATCTGCCCCACCACCATGCAATCTTCCACAGGGCTCATTCCACTCAGTGTTAGAAACTGTAAGTGTACTCTGTCTTCTCGGCTGGTCATCCCTGTACTGCTTTCATAAATAGCTGTTTTTGCAAATGGTTAATTATTAGCGAGGAAAGCTTTAAAACTTTCTTATTTCTCATACTGAACTTATATTAAGGGTACAGTAAAACTTGGGGTGCCCATAAGATGATATTCAAAACTTTACTGTAATTTTTTTTTTTAGAGACAAGGTTTCACTATGTTCTCAGTCTGGTCTCCATTTCCTGGCCTCAAGCAATCCTCCTGCTTCAGCTTCCCAAGTAACTGTGATTACAGACATGGGGCACACACCTGGCTCCTACCATATTTTTATAATTTAAAGAATTATTATTCATAAAATAAGTTTTTGCAAAACTTACCACAATCAATATCTTATCTGATGCAGTTATGGCACAAATTGGATCCCTTGTGCCCTAAAATAAATTAATCAATCATTACTATTCAACAAACATTTATTGAATAACTAACCTGGTACAACGTAGTATGCAATTCACTAAGCAGTCAATATTTCTTAACTTAACCAACATTTATTTACTGCTGAGCACCTACTATGTGCCAACCACTGAACTAAGCACTAGAGATACTCAGATGAAATCTTCATCTTCAGAGATTACTGAAAAGTCTATTGAGGAAGACAGTGAACTAAACACCTCATTGCAGGACAGTATGATAAAAGAAGAGACAGAAACAGAGGTTATGACAGTGCAGAGAAAGGAGTACCTAACTTACACCAAGACAGGCAAAAACCTGAGCTCAGGCCTAAAAGAGAAACAGACAGC
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Task1_train_3129
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Consider a variant on Chromosome 2 in gene WDR35 (WD repeat domain 35). Determine its clinical classification and disease relevance.
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Pathogenic; Short-rib thoracic dysplasia 7 with or without polydactyly
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CATTTTCCCAAGGAAACCAATGGAAGAAAAAAACTCAAAGTTTTAACCTAGGAGGGTCTGATCTATCTGTCTTGCTACCTGTATGAAATTAAAGGTGAACCAGCAAGCCCTCTACAGTACTCTTGGTATTGACCCATCCATAAGAGGAGGAGAATACGACCATCTTCTAACTGCAAACCAGCCAGGATGTGGCAGCAGCAAGGAAAGAAAACCACCTTTTAGTAAGCCCTCATTACATGCCAGGCACTGTGTAGGCATTTCCTCATTGTAATCTCCTTTAATCTTTACAACAGCACCATGACGTATTTCCTTTATTTCTGAAAATAACTAAACTGTGTCTCAGAGGCTAAATAACTTCTCTACGTCAAACTACACTGTGGAAAATGAATTCAATACCAGATCAACTTGACTACAAACCCTATGCTCTGTTATCTCCTACCATGGCTAAGACCACAGTGCAAAACCCAGGAGCCCCTGGCCCTCAGAATTTAAAAGCAAATTCTTCTCTGAGGTTTTCTTAAGTTTAAATCATTAAGTTTAAATTGTTAGATAACTTCCATCCAGGTTATCTTTCCTACCTTAACAATAACACAGATCCAAATAATTCCCCATATATTCACTCACTCAGAAAATACTGACTACTATGACCTGAGGAACTATGCTAGATACTTTTAGTTACAGCTAAACCAAACCCCACTTACAGTTTTCCGTTTAACACTTAACACATTGTTTTGCAAGACAAACAAACAGACTTTAGAACCCATGTTTTTCTACCTGGGGAAGGCTGAACTAACAAAAATAAGCAGATAAAACATTATGATAAATAAGTAAATGGCAACCAACAAAAATAACCAATAAAGAACAAGAATTAAGAAGGAGGCTATAAATATAGAAATAATTAGAATGCAGATTTTTAATTATTTAGGAACCTTGAAAACTATGCTTTTTTTTTTCCTTCACTTTTACATCTACGAGAAATATTGTCGTTTGACAATGTATAGAGAGCATCTACGTTCTACAGTATATTCTACTGGGTAACTTTGAGATACTGATTCAAAAGCATCAGAAGACATCATTTCTTGCCCTAAAAGAAATTATTAAAATATATAAAAATAACATTAAAACAACTGGTATAGGCTTTTATGCAGCCAAAAATATATATCACTGTAGTCTATGGCGAATTTATAAAAGCCAACAGGGTATTCAAAAGGGACAAAATATAGTACTGGGTTAGAAAATAAGACATTCAAAAAACGTATTAAGCTTAGTTATTAATAAGCTCTCACTTTCTAAATTCTTTAAAATTCACAATATATTAATTCTCCTACTTGACATTTTCCAATGCTACTTCTGAAAATTCTTTTAAAATTAAATTTATTAAAAATACTATTGAGAAGGATAATACTCATATGTACATTTATGAAAACAATGCTTTTATTTTAATGTAGCATCACCTAAGATTAATTATTAAATTTTCTTCAAATAACTGATTACTTTGCAACAAATTAAAAGTATTAGAAGTTTGAAGGAAGGACAGACAGATATGTATGTTTAACATCTAAACACATTTAAAATATCACATTAAAAATCAGAAAAATTAATCTGAAACAACTATATTATACTAAATACTACTCAAAAGCTGGCTATGAAAAGAGACACATATTCAGATCACAGAGAAAATATTCAAAATAACTACTCCATGGTGATTTCTTATGTTAAACTTCTGGTTTTCTGAATGTATAAAATTGTAATTTTTATTTTATAATTATAAAACTATAAGATTATAAAATTCCATGATAAAATACAACAAAGATTTATACTATGAAGATGAAATGTCCCTAAAAGAAAATGTGATAAGTTTACACCGTTTCCTTTGTTATTTTTTCCTCTACCTTACTCACTGCACATTTAAATAGAAAGAAAGAAGATCAATTTGAATGCATTTACCTCACCAAACGGAGTGTAAAACTGCACAATGTTCACATCTTTGTCCTGCATGGCTGCCTTCTGGAAGCCTGCCACAGCTAACACGCTGCCCATGTGGTTCCACTGGATGCCTACTACGTACATGCCAGTGTCAATCAAAACGGGATCTAGTCAGAAAGAGAAAAATGAGGTCACTGTGGGAAAATACGTAGCCTAGAGAACTTTATAATCTTAAGAACAACTTTTAAACATTTTTAAAACTTTCCACATTTTTAAAAAAACAGGGCTGGGTACAACGGCTCACGCCTATAATCCCAACACTTTAGGAGGCTGAGGCGGGCGGATCACTTGAGTCCAGGAGTTCAAGATCGGCCTGGGCAACATGGTGAAACCCTGTCTCTACGAAAAATACAAAAATTAGCTGGAGGAGTTGGTGCACACCTGTGGTCCCAGCTCCTCAGGAGGCTGAGACCTTGAGCCTGGGAGGCCAAGGCTGCAGTGAGCCAAGAACGCACCACTGCACTCCAGCCTCGGCAACAGAGCAAGACCCTGTCGCAAAAAAAAAAAAGTTAAAAATTAGAAATTGAGGCCGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACGAGGTCAGGAGATAGAGACTATCCTGGCTAACAGGGTGAAACCCCGTCTCTACGAAAAATATAAAAAATTAGCCAGGCATAGTGGCACGCCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAAATTCGCTTGAACCCGGGAGGCAGAAGTTGCCGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAGAAAAAAAAAAAAATAGAAATTAAAAAAATTTTTTAAACAGAAAAATTCCTTACTTTGGTCATTCTCATGTCTCATTATTTGGCATCTTCCATTATCAAAGCAAACAGCAAGGCAAGGGCAATCAGGCTCCACGTAGCCTTCTGTGCCATGGTACCAATGAATTCCAGCAATGCTGATAGCTCCAGTGACATTCACCAAACAACTCAGTTTCATTTTTATCTAAATAAAATTGGTTAGGTTTAATATTTTACATTTTAAAACACAGCAGTATAGAGACAATACTCAATAGAGTATTGTAGAAAGAACACTGAAAAATACAGTCTAAAAATCAGGTGGCAAATTAAAGCTTAATCACTTACTGGTATACAGGCCATGGACAAATCACCTAAATGTCCATTTTCCCCACATGTAAAAAATGAGGATTAAAAAACACTGAGTTTTTATGAGACTCAAACAACAAGTATATAAAAGTACTTTGAAAACAGCAAAATGACATAAAAGTTCATTATTTTACTTCCACCAGTGAGTGGATTTACTTAATGTCCTAACCCTTGCTAAAAAACAAAACTGCCCCACCAGTAATCATACATCTATGATAGCTAAACCTTGCAAAGCCAGAATTTTTCTCCAGATTATGCTGCCTGATCCTATTCTATTTTACCTTCTTTCCAGGGATTGATTTTTCTCACTTACCATTTAAGTCTGTCATTCTTTTTACAAACAACCATTGGTAGCTTGCTACAAAAATACCCTGTGGTATCTACATGTAAACTTTGGCTTCAGACACCAGAAGACACCTATAAAACTTAAACTGCACATCGCCCTACTCATTATCTCTCTGCTTAAATGCACTGACACCTCGTCCTTTCTACCTACCAAAAAAAATTGGAACTAAAAGCTACACTCGAACTTGTTGCACTAATTTGCCTTGAGAAAACCAAAATTTTATTTAATTAAAACAAAATTTAGACGATTGGGAAAAAGAAAAAAAATCTGAATTGAAGACTTTAATTACACAAACCGCCATAAAAAATAAATGTATATACAAACATGAATGATATGTACGATAATCATATAAAATTGTATAAACAAGACTGATGCATACACTTACTTACCATAAAATTTCCTTGATTATCGTAAATGTGTATTTCCCCATTTGCCATTCCAAAAAGTAAGACTTTACTGTCCGCAGACCATGTTACATGGGATAGCTGTATACCCTTCAGGTCTTTTCCCCAAATACGATTGCCTAAAACAAAACATTATTAAAAGTTGTTCAAGGTCATGATCCTCCAAC
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CATTTTCCCAAGGAAACCAATGGAAGAAAAAAACTCAAAGTTTTAACCTAGGAGGGTCTGATCTATCTGTCTTGCTACCTGTATGAAATTAAAGGTGAACCAGCAAGCCCTCTACAGTACTCTTGGTATTGACCCATCCATAAGAGGAGGAGAATACGACCATCTTCTAACTGCAAACCAGCCAGGATGTGGCAGCAGCAAGGAAAGAAAACCACCTTTTAGTAAGCCCTCATTACATGCCAGGCACTGTGTAGGCATTTCCTCATTGTAATCTCCTTTAATCTTTACAACAGCACCATGACGTATTTCCTTTATTTCTGAAAATAACTAAACTGTGTCTCAGAGGCTAAATAACTTCTCTACGTCAAACTACACTGTGGAAAATGAATTCAATACCAGATCAACTTGACTACAAACCCTATGCTCTGTTATCTCCTACCATGGCTAAGACCACAGTGCAAAACCCAGGAGCCCCTGGCCCTCAGAATTTAAAAGCAAATTCTTCTCTGAGGTTTTCTTAAGTTTAAATCATTAAGTTTAAATTGTTAGATAACTTCCATCCAGGTTATCTTTCCTACCTTAACAATAACACAGATCCAAATAATTCCCCATATATTCACTCACTCAGAAAATACTGACTACTATGACCTGAGGAACTATGCTAGATACTTTTAGTTACAGCTAAACCAAACCCCACTTACAGTTTTCCGTTTAACACTTAACACATTGTTTTGCAAGACAAACAAACAGACTTTAGAACCCATGTTTTTCTACCTGGGGAAGGCTGAACTAACAAAAATAAGCAGATAAAACATTATGATAAATAAGTAAATGGCAACCAACAAAAATAACCAATAAAGAACAAGAATTAAGAAGGAGGCTATAAATATAGAAATAATTAGAATGCAGATTTTTAATTATTTAGGAACCTTGAAAACTATGCTTTTTTTTTTCCTTCACTTTTACATCTACGAGAAATATTGTCGTTTGACAATGTATAGAGAGCATCTACGTTCTACAGTATATTCTACTGGGTAACTTTGAGATACTGATTCAAAAGCATCAGAAGACATCATTTCTTGCCCTAAAAGAAATTATTAAAATATATAAAAATAACATTAAAACAACTGGTATAGGCTTTTATGCAGCCAAAAATATATATCACTGTAGTCTATGGCGAATTTATAAAAGCCAACAGGGTATTCAAAAGGGACAAAATATAGTACTGGGTTAGAAAATAAGACATTCAAAAAACGTATTAAGCTTAGTTATTAATAAGCTCTCACTTTCTAAATTCTTTAAAATTCACAATATATTAATTCTCCTACTTGACATTTTCCAATGCTACTTCTGAAAATTCTTTTAAAATTAAATTTATTAAAAATACTATTGAGAAGGATAATACTCATATGTACATTTATGAAAACAATGCTTTTATTTTAATGTAGCATCACCTAAGATTAATTATTAAATTTTCTTCAAATAACTGATTACTTTGCAACAAATTAAAAGTATTAGAAGTTTGAAGGAAGGACAGACAGATATGTATGTTTAACATCTAAACACATTTAAAATATCACATTAAAAATCAGAAAAATTAATCTGAAACAACTATATTATACTAAATACTACTCAAAAGCTGGCTATGAAAAGAGACACATATTCAGATCACAGAGAAAATATTCAAAATAACTACTCCATGGTGATTTCTTATGTTAAACTTCTGGTTTTCTGAATGTATAAAATTGTAATTTTTATTTTATAATTATAAAACTATAAGATTATAAAATTCCATGATAAAATACAACAAAGATTTATACTATGAAGATGAAATGTCCCTAAAAGAAAATGTGATAAGTTTACACCGTTTCCTTTGTTATTTTTTCCTCTACCTTACTCACTGCACATTTAAATAGAAAGAAAGAAGATCAATTTGAATGCATTTACCTCACCAAACGGAGTGTAAAACTGCACAATGTTCACATCTTTGTCCTGCATGGCTGCCTTCTGGAAGCCTGCCACAGCTAACACGCTGCCCATGTGGTTCCGCTGGATGCCTACTACGTACATGCCAGTGTCAATCAAAACGGGATCTAGTCAGAAAGAGAAAAATGAGGTCACTGTGGGAAAATACGTAGCCTAGAGAACTTTATAATCTTAAGAACAACTTTTAAACATTTTTAAAACTTTCCACATTTTTAAAAAAACAGGGCTGGGTACAACGGCTCACGCCTATAATCCCAACACTTTAGGAGGCTGAGGCGGGCGGATCACTTGAGTCCAGGAGTTCAAGATCGGCCTGGGCAACATGGTGAAACCCTGTCTCTACGAAAAATACAAAAATTAGCTGGAGGAGTTGGTGCACACCTGTGGTCCCAGCTCCTCAGGAGGCTGAGACCTTGAGCCTGGGAGGCCAAGGCTGCAGTGAGCCAAGAACGCACCACTGCACTCCAGCCTCGGCAACAGAGCAAGACCCTGTCGCAAAAAAAAAAAAGTTAAAAATTAGAAATTGAGGCCGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACGAGGTCAGGAGATAGAGACTATCCTGGCTAACAGGGTGAAACCCCGTCTCTACGAAAAATATAAAAAATTAGCCAGGCATAGTGGCACGCCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAAATTCGCTTGAACCCGGGAGGCAGAAGTTGCCGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAGAAAAAAAAAAAAATAGAAATTAAAAAAATTTTTTAAACAGAAAAATTCCTTACTTTGGTCATTCTCATGTCTCATTATTTGGCATCTTCCATTATCAAAGCAAACAGCAAGGCAAGGGCAATCAGGCTCCACGTAGCCTTCTGTGCCATGGTACCAATGAATTCCAGCAATGCTGATAGCTCCAGTGACATTCACCAAACAACTCAGTTTCATTTTTATCTAAATAAAATTGGTTAGGTTTAATATTTTACATTTTAAAACACAGCAGTATAGAGACAATACTCAATAGAGTATTGTAGAAAGAACACTGAAAAATACAGTCTAAAAATCAGGTGGCAAATTAAAGCTTAATCACTTACTGGTATACAGGCCATGGACAAATCACCTAAATGTCCATTTTCCCCACATGTAAAAAATGAGGATTAAAAAACACTGAGTTTTTATGAGACTCAAACAACAAGTATATAAAAGTACTTTGAAAACAGCAAAATGACATAAAAGTTCATTATTTTACTTCCACCAGTGAGTGGATTTACTTAATGTCCTAACCCTTGCTAAAAAACAAAACTGCCCCACCAGTAATCATACATCTATGATAGCTAAACCTTGCAAAGCCAGAATTTTTCTCCAGATTATGCTGCCTGATCCTATTCTATTTTACCTTCTTTCCAGGGATTGATTTTTCTCACTTACCATTTAAGTCTGTCATTCTTTTTACAAACAACCATTGGTAGCTTGCTACAAAAATACCCTGTGGTATCTACATGTAAACTTTGGCTTCAGACACCAGAAGACACCTATAAAACTTAAACTGCACATCGCCCTACTCATTATCTCTCTGCTTAAATGCACTGACACCTCGTCCTTTCTACCTACCAAAAAAAATTGGAACTAAAAGCTACACTCGAACTTGTTGCACTAATTTGCCTTGAGAAAACCAAAATTTTATTTAATTAAAACAAAATTTAGACGATTGGGAAAAAGAAAAAAAATCTGAATTGAAGACTTTAATTACACAAACCGCCATAAAAAATAAATGTATATACAAACATGAATGATATGTACGATAATCATATAAAATTGTATAAACAAGACTGATGCATACACTTACTTACCATAAAATTTCCTTGATTATCGTAAATGTGTATTTCCCCATTTGCCATTCCAAAAAGTAAGACTTTACTGTCCGCAGACCATGTTACATGGGATAGCTGTATACCCTTCAGGTCTTTTCCCCAAATACGATTGCCTAAAACAAAACATTATTAAAAGTTGTTCAAGGTCATGATCCTCCAAC
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Task1_train_3130
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Gene WDR35 (WD repeat domain 35) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; not provided
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GGCAACCAACAAAAATAACCAATAAAGAACAAGAATTAAGAAGGAGGCTATAAATATAGAAATAATTAGAATGCAGATTTTTAATTATTTAGGAACCTTGAAAACTATGCTTTTTTTTTTCCTTCACTTTTACATCTACGAGAAATATTGTCGTTTGACAATGTATAGAGAGCATCTACGTTCTACAGTATATTCTACTGGGTAACTTTGAGATACTGATTCAAAAGCATCAGAAGACATCATTTCTTGCCCTAAAAGAAATTATTAAAATATATAAAAATAACATTAAAACAACTGGTATAGGCTTTTATGCAGCCAAAAATATATATCACTGTAGTCTATGGCGAATTTATAAAAGCCAACAGGGTATTCAAAAGGGACAAAATATAGTACTGGGTTAGAAAATAAGACATTCAAAAAACGTATTAAGCTTAGTTATTAATAAGCTCTCACTTTCTAAATTCTTTAAAATTCACAATATATTAATTCTCCTACTTGACATTTTCCAATGCTACTTCTGAAAATTCTTTTAAAATTAAATTTATTAAAAATACTATTGAGAAGGATAATACTCATATGTACATTTATGAAAACAATGCTTTTATTTTAATGTAGCATCACCTAAGATTAATTATTAAATTTTCTTCAAATAACTGATTACTTTGCAACAAATTAAAAGTATTAGAAGTTTGAAGGAAGGACAGACAGATATGTATGTTTAACATCTAAACACATTTAAAATATCACATTAAAAATCAGAAAAATTAATCTGAAACAACTATATTATACTAAATACTACTCAAAAGCTGGCTATGAAAAGAGACACATATTCAGATCACAGAGAAAATATTCAAAATAACTACTCCATGGTGATTTCTTATGTTAAACTTCTGGTTTTCTGAATGTATAAAATTGTAATTTTTATTTTATAATTATAAAACTATAAGATTATAAAATTCCATGATAAAATACAACAAAGATTTATACTATGAAGATGAAATGTCCCTAAAAGAAAATGTGATAAGTTTACACCGTTTCCTTTGTTATTTTTTCCTCTACCTTACTCACTGCACATTTAAATAGAAAGAAAGAAGATCAATTTGAATGCATTTACCTCACCAAACGGAGTGTAAAACTGCACAATGTTCACATCTTTGTCCTGCATGGCTGCCTTCTGGAAGCCTGCCACAGCTAACACGCTGCCCATGTGGTTCCACTGGATGCCTACTACGTACATGCCAGTGTCAATCAAAACGGGATCTAGTCAGAAAGAGAAAAATGAGGTCACTGTGGGAAAATACGTAGCCTAGAGAACTTTATAATCTTAAGAACAACTTTTAAACATTTTTAAAACTTTCCACATTTTTAAAAAAACAGGGCTGGGTACAACGGCTCACGCCTATAATCCCAACACTTTAGGAGGCTGAGGCGGGCGGATCACTTGAGTCCAGGAGTTCAAGATCGGCCTGGGCAACATGGTGAAACCCTGTCTCTACGAAAAATACAAAAATTAGCTGGAGGAGTTGGTGCACACCTGTGGTCCCAGCTCCTCAGGAGGCTGAGACCTTGAGCCTGGGAGGCCAAGGCTGCAGTGAGCCAAGAACGCACCACTGCACTCCAGCCTCGGCAACAGAGCAAGACCCTGTCGCAAAAAAAAAAAAGTTAAAAATTAGAAATTGAGGCCGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACGAGGTCAGGAGATAGAGACTATCCTGGCTAACAGGGTGAAACCCCGTCTCTACGAAAAATATAAAAAATTAGCCAGGCATAGTGGCACGCCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAAATTCGCTTGAACCCGGGAGGCAGAAGTTGCCGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAGAAAAAAAAAAAAATAGAAATTAAAAAAATTTTTTAAACAGAAAAATTCCTTACTTTGGTCATTCTCATGTCTCATTATTTGGCATCTTCCATTATCAAAGCAAACAGCAAGGCAAGGGCAATCAGGCTCCACGTAGCCTTCTGTGCCATGGTACCAATGAATTCCAGCAATGCTGATAGCTCCAGTGACATTCACCAAACAACTCAGTTTCATTTTTATCTAAATAAAATTGGTTAGGTTTAATATTTTACATTTTAAAACACAGCAGTATAGAGACAATACTCAATAGAGTATTGTAGAAAGAACACTGAAAAATACAGTCTAAAAATCAGGTGGCAAATTAAAGCTTAATCACTTACTGGTATACAGGCCATGGACAAATCACCTAAATGTCCATTTTCCCCACATGTAAAAAATGAGGATTAAAAAACACTGAGTTTTTATGAGACTCAAACAACAAGTATATAAAAGTACTTTGAAAACAGCAAAATGACATAAAAGTTCATTATTTTACTTCCACCAGTGAGTGGATTTACTTAATGTCCTAACCCTTGCTAAAAAACAAAACTGCCCCACCAGTAATCATACATCTATGATAGCTAAACCTTGCAAAGCCAGAATTTTTCTCCAGATTATGCTGCCTGATCCTATTCTATTTTACCTTCTTTCCAGGGATTGATTTTTCTCACTTACCATTTAAGTCTGTCATTCTTTTTACAAACAACCATTGGTAGCTTGCTACAAAAATACCCTGTGGTATCTACATGTAAACTTTGGCTTCAGACACCAGAAGACACCTATAAAACTTAAACTGCACATCGCCCTACTCATTATCTCTCTGCTTAAATGCACTGACACCTCGTCCTTTCTACCTACCAAAAAAAATTGGAACTAAAAGCTACACTCGAACTTGTTGCACTAATTTGCCTTGAGAAAACCAAAATTTTATTTAATTAAAACAAAATTTAGACGATTGGGAAAAAGAAAAAAAATCTGAATTGAAGACTTTAATTACACAAACCGCCATAAAAAATAAATGTATATACAAACATGAATGATATGTACGATAATCATATAAAATTGTATAAACAAGACTGATGCATACACTTACTTACCATAAAATTTCCTTGATTATCGTAAATGTGTATTTCCCCATTTGCCATTCCAAAAAGTAAGACTTTACTGTCCGCAGACCATGTTACATGGGATAGCTGTATACCCTTCAGGTCTTTTCCCCAAATACGATTGCCTAAAACAAAACATTATTAAAAGTTGTTCAAGGTCATGATCCTCCAACAACGGCTTTCGAAATCTTTGTTTTTCTAAAGATCTCACAAATTCTTCACAGCATTCATGCATTCATTCAATTTATTTGGCCAATAAATATTTACTGAGCACCTATATGTGCCTGAAAAGACATCTGAAATAGCAGCTGTTTCAACCTTTCTCCCCTTTCTTCTAAACTCTGATGCTGGATCTCACTCCCAATTAGCAGTTGAGCCCATCTTCTATTTTGGAAAGAAAATAAAAGCACCCAAAAAACAAATTCCTCATTCCCATCTTCAACAATTCAGAACATAACTGAGTCCATGCTTACACTTTCTGCGTTGCCCACTAATACAAAAGAAGAGGTATTTCCCCAGTCAGTCCCCTATCCAAGGCTAATTCCTCTATGTATTCTCTGATCTAATCCCTTCCTACCTTTGCAAAGATCTCCCTTTATCGACTACTCTCATTTTCTCTTTCTCATTAAACTCTTCACTCCAGGGCCTTTCTTATGTGGATTTAAACACATGCAGATCTATTTCTCTTTGAAACCATCACCCTAAATAAAATAAACACTTTTATTAACCCCAAGTTCCCCCTCTAACTACTATTTCTACCATTCCTTTCCCAACCAAACTTCATGAAAGAGTTCTTCACACCTATAGTCTCCACTTCAACTGCCACTCAACCCTTAACCCCTCCCAATCTGGCTTCTGCCCCACAACTCCATTGAAACTGCCTACAACATACACTATTTGGGTTATGGTTATATACTAATAGTCCAGACCTCACCAATATTCAATATATCCATATAACAAACCTGCACTTGTACCCTCTAAATCTATAAAAATAATAAATAAAAAA
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GGCAACCAACAAAAATAACCAATAAAGAACAAGAATTAAGAAGGAGGCTATAAATATAGAAATAATTAGAATGCAGATTTTTAATTATTTAGGAACCTTGAAAACTATGCTTTTTTTTTTCCTTCACTTTTACATCTACGAGAAATATTGTCGTTTGACAATGTATAGAGAGCATCTACGTTCTACAGTATATTCTACTGGGTAACTTTGAGATACTGATTCAAAAGCATCAGAAGACATCATTTCTTGCCCTAAAAGAAATTATTAAAATATATAAAAATAACATTAAAACAACTGGTATAGGCTTTTATGCAGCCAAAAATATATATCACTGTAGTCTATGGCGAATTTATAAAAGCCAACAGGGTATTCAAAAGGGACAAAATATAGTACTGGGTTAGAAAATAAGACATTCAAAAAACGTATTAAGCTTAGTTATTAATAAGCTCTCACTTTCTAAATTCTTTAAAATTCACAATATATTAATTCTCCTACTTGACATTTTCCAATGCTACTTCTGAAAATTCTTTTAAAATTAAATTTATTAAAAATACTATTGAGAAGGATAATACTCATATGTACATTTATGAAAACAATGCTTTTATTTTAATGTAGCATCACCTAAGATTAATTATTAAATTTTCTTCAAATAACTGATTACTTTGCAACAAATTAAAAGTATTAGAAGTTTGAAGGAAGGACAGACAGATATGTATGTTTAACATCTAAACACATTTAAAATATCACATTAAAAATCAGAAAAATTAATCTGAAACAACTATATTATACTAAATACTACTCAAAAGCTGGCTATGAAAAGAGACACATATTCAGATCACAGAGAAAATATTCAAAATAACTACTCCATGGTGATTTCTTATGTTAAACTTCTGGTTTTCTGAATGTATAAAATTGTAATTTTTATTTTATAATTATAAAACTATAAGATTATAAAATTCCATGATAAAATACAACAAAGATTTATACTATGAAGATGAAATGTCCCTAAAAGAAAATGTGATAAGTTTACACCGTTTCCTTTGTTATTTTTTCCTCTACCTTACTCACTGCACATTTAAATAGAAAGAAAGAAGATCAATTTGAATGCATTTACCTCACCAAACGGAGTGTAAAACTGCACAATGTTCACATCTTTGTCCTGCATGGCTGCCTTCTGGAAGCCTGCCACAGCTAACACGCTGCCCATGTGGTTCCACTGGATGCCTACTACGTACATGCCAGTGTCAATCAAAACGGGATCTAGTCAGAAAGAGAAAAATGAGGTCACTGTGGGAAAATACGTAGCCTAGAGAACTTTATAATCTTAAGAACAACTTTTAAACATTTTTAAAACTTTCCACATTTTTAAAAAAACAGGGCTGGGTACAACGGCTCACGCCTATAATCCCAACACTTTAGGAGGCTGAGGCGGGCGGATCACTTGAGTCCAGGAGTTCAAGATCGGCCTGGGCAACATGGTGAAACCCTGTCTCTACGAAAAATACAAAAATTAGCTGGAGGAGTTGGTGCACACCTGTGGTCCCAGCTCCTCAGGAGGCTGAGACCTTGAGCCTGGGAGGCCAAGGCTGCAGTGAGCCAAGAACGCACCACTGCACTCCAGCCTCGGCAACAGAGCAAGACCCTGTCGCAAAAAAAAAAAAGTTAAAAATTAGAAATTGAGGCCGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACGAGGTCAGGAGATAGAGACTATCCTGGCTAACAGGGTGAAACCCCGTCTCTACGAAAAATATAAAAAATTAGCCAGGCATAGTGGCACGCCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAAATTCGCTTGAACCCGGGAGGCAGAAGTTGCCGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAGAAAAAAAAAAAAATAGAAATTAAAAAAATTTTTTAAACAGAAAAATTCCTTACTTTGGTCATTCTCATGTCTCATTATTTGGTATCTTCCATTATCAAAGCAAACAGCAAGGCAAGGGCAATCAGGCTCCACGTAGCCTTCTGTGCCATGGTACCAATGAATTCCAGCAATGCTGATAGCTCCAGTGACATTCACCAAACAACTCAGTTTCATTTTTATCTAAATAAAATTGGTTAGGTTTAATATTTTACATTTTAAAACACAGCAGTATAGAGACAATACTCAATAGAGTATTGTAGAAAGAACACTGAAAAATACAGTCTAAAAATCAGGTGGCAAATTAAAGCTTAATCACTTACTGGTATACAGGCCATGGACAAATCACCTAAATGTCCATTTTCCCCACATGTAAAAAATGAGGATTAAAAAACACTGAGTTTTTATGAGACTCAAACAACAAGTATATAAAAGTACTTTGAAAACAGCAAAATGACATAAAAGTTCATTATTTTACTTCCACCAGTGAGTGGATTTACTTAATGTCCTAACCCTTGCTAAAAAACAAAACTGCCCCACCAGTAATCATACATCTATGATAGCTAAACCTTGCAAAGCCAGAATTTTTCTCCAGATTATGCTGCCTGATCCTATTCTATTTTACCTTCTTTCCAGGGATTGATTTTTCTCACTTACCATTTAAGTCTGTCATTCTTTTTACAAACAACCATTGGTAGCTTGCTACAAAAATACCCTGTGGTATCTACATGTAAACTTTGGCTTCAGACACCAGAAGACACCTATAAAACTTAAACTGCACATCGCCCTACTCATTATCTCTCTGCTTAAATGCACTGACACCTCGTCCTTTCTACCTACCAAAAAAAATTGGAACTAAAAGCTACACTCGAACTTGTTGCACTAATTTGCCTTGAGAAAACCAAAATTTTATTTAATTAAAACAAAATTTAGACGATTGGGAAAAAGAAAAAAAATCTGAATTGAAGACTTTAATTACACAAACCGCCATAAAAAATAAATGTATATACAAACATGAATGATATGTACGATAATCATATAAAATTGTATAAACAAGACTGATGCATACACTTACTTACCATAAAATTTCCTTGATTATCGTAAATGTGTATTTCCCCATTTGCCATTCCAAAAAGTAAGACTTTACTGTCCGCAGACCATGTTACATGGGATAGCTGTATACCCTTCAGGTCTTTTCCCCAAATACGATTGCCTAAAACAAAACATTATTAAAAGTTGTTCAAGGTCATGATCCTCCAACAACGGCTTTCGAAATCTTTGTTTTTCTAAAGATCTCACAAATTCTTCACAGCATTCATGCATTCATTCAATTTATTTGGCCAATAAATATTTACTGAGCACCTATATGTGCCTGAAAAGACATCTGAAATAGCAGCTGTTTCAACCTTTCTCCCCTTTCTTCTAAACTCTGATGCTGGATCTCACTCCCAATTAGCAGTTGAGCCCATCTTCTATTTTGGAAAGAAAATAAAAGCACCCAAAAAACAAATTCCTCATTCCCATCTTCAACAATTCAGAACATAACTGAGTCCATGCTTACACTTTCTGCGTTGCCCACTAATACAAAAGAAGAGGTATTTCCCCAGTCAGTCCCCTATCCAAGGCTAATTCCTCTATGTATTCTCTGATCTAATCCCTTCCTACCTTTGCAAAGATCTCCCTTTATCGACTACTCTCATTTTCTCTTTCTCATTAAACTCTTCACTCCAGGGCCTTTCTTATGTGGATTTAAACACATGCAGATCTATTTCTCTTTGAAACCATCACCCTAAATAAAATAAACACTTTTATTAACCCCAAGTTCCCCCTCTAACTACTATTTCTACCATTCCTTTCCCAACCAAACTTCATGAAAGAGTTCTTCACACCTATAGTCTCCACTTCAACTGCCACTCAACCCTTAACCCCTCCCAATCTGGCTTCTGCCCCACAACTCCATTGAAACTGCCTACAACATACACTATTTGGGTTATGGTTATATACTAATAGTCCAGACCTCACCAATATTCAATATATCCATATAACAAACCTGCACTTGTACCCTCTAAATCTATAAAAATAATAAATAAAAAA
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Task1_train_3131
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This genomic variant is located on Chromosome 2, within the WDR35 (WD repeat domain 35) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Cranioectodermal dysplasia 2
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GTAGAAGCTATTCTTCTGCTAAGAGTCTAAGTTCATTTTGGAGATGGCCAACAGTCACCTAATTCACTTTCTTAATAACAGGGTTAAAGTTTTAAAAAAGTGAAAAGTAGGCAGCAATAAATCCAGAAATATTATCACTGTGCAGTCAGGATGAACTCCTGTTGTTAGTAAAAGGGGTCTATTTTGGAGATGTTATTTACCCATCCAAATACTGTGATCCAGATGCCAACTTGTGAAAAATTAAATAATCTCTCCTAGTAAAGTATACCTTTATATAACATCCACACAATGATAAGCCCGTTTTCATCACTGGTAGTCAACTTCTGATACTGCTCATTCCATGTTACAACTTGAACAGAACCTAGAACATTATAAAACAATTTAGAAACTTAAAGGTTACAATTAATTTCAAATTCACATTTTTATATAAACACCAAGATCATGTTAAAATCAATATGGTTCCTGTACAGCTAACTAGTCTTTAATATTCCTCAAAACCTATTCATAAGATGCAGTTATTGATATCACTAATTTTCTACAACAATGCATAATACTATTTTTCATATCTATCCCTATTTCATCCCAGTAAAGACACCAATCATGGCTAGCTACCAGAACTACCATATACCTGATGACAGAAACAAATACAAGCATGGTTTACTCAATTGGCCTGACTCCCAAAAATAATGATGTTCAAAGGACACCATAACAAGTACTTGTTTAGGGGACTTTTATCATTTTTGGTAGATATGTCCTATAATCTCTCTTCTGCCCACCTCTCACTCGTTTTCCATTCTATTAGTAAAACACTCTTGAGCATATCTTAAACCTCTAGGGTACGTGAATAATTGATGACTTTTAATTTTTTAATCCCTAAATACTTTAGTGTACATTTCCTAAAAATAAAGACATTCTCTTCCATAATCATATTACAAATTAGGAAGTTTAACACTGATATACTATTATCTAACTCACAGTCCATATACAAATTTTACCAATTGTCCAAATAATGTCCTTTATAGACACTTGTTCTTCTCATTCCAAGATCCAATCTAGGATTATACAGTGCATTTAGTTGTTATACATCTTCAGTCTTTAGTCTTTTTTTTTCTTGAGACAGGATCTTGCACTGTCACCAAGGCTGGAATGCAGTGGCACAATCATGGCTCACTGCAGCCTCCAACTCATGAGCTCAAGCGATCCTCCCACCTCAGCCTCCTGAGTACTGGGGACTACGGGCACACAGCACCACGCCTGGTTAATTTTTTTTATTTTTTGTAGAAACAGGGTCTCATTATGTTGCCCAGGGTGGTTCCAAAATCCCAGCCTCATGCAGTCTTCCCACCTTGGCCTCCCAAAGTGCTTGAACTATAGGTGTTAGCCACTACACCCAGTCTCTTCAGTCTCCTTTAATCTGGAATCATAGGACAGATTCTAAAAAGGATTATATATACAACATCCATAGACAGGAGTATTTTCAATATATTAAAAACAGCTATTTTCTTCTAGATTTATTTAAGATGTTGTTTAATCATGTAAAAGTTGAATGACTCTAAGTTGTATTACTTATGTCTCAACAGAAATGATTACAAACAGCTCCCAACTTACAATGGTACTACTTAAATGACTTTTCGGTGATGGGAATGCAATGCACATTCAGTAGAAACCGTACTTCGAGTGCCCATACAACCATTCTGTTTTTCACTTTTAGTACAGAAATCAATAAGTTACATAAGATATTCAACATTTTAGTATAAAATAGGCTTTATGTCAGATGATTGTGCCCAACTGTAGGCTAGTGTTTTCTGGGCATATTTAAGGTAAGCTAGGCAGAGCTACGATGTTCAGTAGGTTAGGTGTATTAAATGCATTTTCAACTTACAATGGGTTTATTGGAACATATCCCCATCGTAACTCAAAGAGCATCTGTACTGTAAATATTACCATTATTTAAAATGTTGACATTTCTGCATTAAGTAGAAACTTTCTAAATGCCTAAATACCACTCAAACATGACTTAAAAGAAATTGAATGACTCACCACTATGACCTTCAAGAGTCTGATTCATAGAAAGGTTACTGGGGGCTGCAAGGCCCCTCAATTTTGCATCATCTAAAACAAAACAAAACAAACTACTATGATAAATATGTAAAAGTGACATATTATAAGATTTTGACTCTTTTTGTATTCCTGGGCAGTATTAATCATTTTTCTAAGTATGCCCCATTCTGATATATTTTTCTCATGGTATAAACATGAACAATAACACATACCCCTTGCAAAGATATTCTGGTAAAATAAAGCAAAATATATAAATGAAGATTGTTTACTCATACATTACATATATTAATAATCATCACTGCTTTTTATTCCTTTCCAAAAGACCACAAATAGAAATATTTATGGCCTACAGATTGAAAACTCTACAGCTTACAAGGGATCAAAAGAGCATAGACTTTGAAAATGGGTTTTTACTAGATTACACAGAATCTTATATTCACTCATTTATTCATTCATTTAACAAATATTTATGAAATGTGTACACTGTGCTATGCATTACAAAAGGTTCTACATATAAAATGGTGAACAAAACAGTCATTTCCCCTTTCTTCTCAGAGCTTTCAGTCTAAGGGACCAATATTAAATATATACTCACATACACATAAATGTAACTATAAACTGGGAATGTGAAAGCATAATAAGAAAGAGTAGCAGAAGTGACTTAATTTAGATTGATGGGGAACCAGGGAAGGCTATCAGAAGAACTGATATTTAAGCTGAGACTGAGAGGTAAACTGGAGATAGCCAGGAAAGGTAGAGAAAGAAGGGGAGTATTCCAGGCTAGGACACAGCAACATAAAGGCTCTGAGGTAGACAACTAGAGCCCTTGACAAACTCTAAGAAGGCCTATGTGGATGAACAGGGGAGAAAATTGCATCAAACAAGGCTGGAGTGATAGGCACAAGAAAAACTATGAAGTATTTGTAGAAAATGATAAGAATTTTAGATTTTATCCAAAGTGCAATGAAAACCTCTAAAGACGTCTTAAAAATTTACTAACCATCCTACAGAGAATATTAAAATGTCATCTCAATAAATTAATCTTGGCTTAGAAATCTGTTACACATAAAACATAGCATTTAAAATTTTCATTTAAAATACAAATGTTATGAAGATCTTAAGAATTTGTGAGAATGGGAATTATACCAATGCTAAAGAAAATTCTACTTTCAGATAACAAGTATCTTAAAATATTATGAAAAATATCCTTTATTCTGAAAACATTGTCAGGAAAAGATACCTAATTTCCTCTAAATCACTAGTTCTAATTACCCAGTTGTTTTGGTAACACAAGAGTACACATGTACAGTTTAACAATGCAATCATCTGTCAATTAAGATAGAATAAATGTTGCTGACACACACATTAGGCTGAACATAATTTTTTTTAACACAGGGTTCTTTCATTCATTTAATCTTTTAAAAATTGTACAACATACTTAAACTTTATTATAATATTCTAAAATATTTGGTGGAAACATTTTTCTTAACTTCTAGCACTGAAAAATCCATTCTAATGCATATATATATATATATATATATATATATATATATATATACATATATACACACACCCACATATTCTGATGTCACTATAACCTAAGTGAAATGGGTCATATGAGATTTAGATTGACCACCCATGTTTGCCCTCTGTTAGACCATAAGGTAGCATACTCTTGACAAAACACATGCTGACAGTTAAGAACAGGCTTTGAAATTCAGCTTGATATATTGAACAAATATCATCCACATCTGAAAACGTCTCTTGCTGGAAGCAACTCCGTAACTTGATCATGTAAAAAATATTCATAAAACCCACCTGAAAGTTCTCAGATGTCCATAAAAAGGCCAAAAGTTTTAAATGATGTAGAGTAAAGCCAGCGATAATATCCCAAGATTCCATTCAGTTACATTACTAGACTCCAGATAGCCAATAAGGTAATGAAACCAAACTGGTATGTGAACAAAAATCTGGTAATACTGACATAAATCTTCTAAAAGCACATAACAGTAATCCTTGGATTTAAAAGGCATAA
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GTAGAAGCTATTCTTCTGCTAAGAGTCTAAGTTCATTTTGGAGATGGCCAACAGTCACCTAATTCACTTTCTTAATAACAGGGTTAAAGTTTTAAAAAAGTGAAAAGTAGGCAGCAATAAATCCAGAAATATTATCACTGTGCAGTCAGGATGAACTCCTGTTGTTAGTAAAAGGGGTCTATTTTGGAGATGTTATTTACCCATCCAAATACTGTGATCCAGATGCCAACTTGTGAAAAATTAAATAATCTCTCCTAGTAAAGTATACCTTTATATAACATCCACACAATGATAAGCCCGTTTTCATCACTGGTAGTCAACTTCTGATACTGCTCATTCCATGTTACAACTTGAACAGAACCTAGAACATTATAAAACAATTTAGAAACTTAAAGGTTACAATTAATTTCAAATTCACATTTTTATATAAACACCAAGATCATGTTAAAATCAATATGGTTCCTGTACAGCTAACTAGTCTTTAATATTCCTCAAAACCTATTCATAAGATGCAGTTATTGATATCACTAATTTTCTACAACAATGCATAATACTATTTTTCATATCTATCCCTATTTCATCCCAGTAAAGACACCAATCATGGCTAGCTACCAGAACTACCATATACCTGATGACAGAAACAAATACAAGCATGGTTTACTCAATTGGCCTGACTCCCAAAAATAATGATGTTCAAAGGACACCATAACAAGTACTTGTTTAGGGGACTTTTATCATTTTTGGTAGATATGTCCTATAATCTCTCTTCTGCCCACCTCTCACTCGTTTTCCATTCTATTAGTAAAACACTCTTGAGCATATCTTAAACCTCTAGGGTACGTGAATAATTGATGACTTTTAATTTTTTAATCCCTAAATACTTTAGTGTACATTTCCTAAAAATAAAGACATTCTCTTCCATAATCATATTACAAATTAGGAAGTTTAACACTGATATACTATTATCTAACTCACAGTCCATATACAAATTTTACCAATTGTCCAAATAATGTCCTTTATAGACACTTGTTCTTCTCATTCCAAGATCCAATCTAGGATTATACAGTGCATTTAGTTGTTATACATCTTCAGTCTTTAGTCTTTTTTTTTCTTGAGACAGGATCTTGCACTGTCACCAAGGCTGGAATGCAGTGGCACAATCATGGCTCACTGCAGCCTCCAACTCATGAGCTCAAGCGATCCTCCCACCTCAGCCTCCTGAGTACTGGGGACTACGGGCACACAGCACCACGCCTGGTTAATTTTTTTTATTTTTTGTAGAAACAGGGTCTCATTATGTTGCCCAGGGTGGTTCCAAAATCCCAGCCTCATGCAGTCTTCCCACCTTGGCCTCCCAAAGTGCTTGAACTATAGGTGTTAGCCACTACACCCAGTCTCTTCAGTCTCCTTTAATCTGGAATCATAGGACAGATTCTAAAAAGGATTATATATACAACATCCATAGACAGGAGTATTTTCAATATATTAAAAACAGCTATTTTCTTCTAGATTTATTTAAGATGTTGTTTAATCATGTAAAAGTTGAATGACTCTAAGTTGTATTACTTATGTCTCAACAGAAATGATTACAAACAGCTCCCAACTTACAATGGTACTACTTAAATGACTTTTCGGTGATGGGAATGCAATGCACATTCAGTAGAAACCGTACTTCGAGTGCCCATACAACCATTCTGTTTTTCACTTTTAGTACAGAAATCAATAAGTTACATAAGATATTCAACATTTTAGTATAAAATAGGCTTTATGTCAGATGATTGTGCCCAACTGTAGGCTAGTGTTTTCTGGGCATATTTAAGGTAAGCTAGGCAGAGCTACGATGTTCAGTAGGTTAGGTGTATTAAATGCATTTTCAACTTACAATGGGTTTATTGGAACATATCCCCATCGTAACTCAAAGAGCATCTGTACTGTAAATATTACCATTATTTAAAATGTTGACATTTCTGCATTAAGTAGAAACTTTCTAAATGCCTAAATACCACTCAAACATGACTTAAAAGAAATTGAATGACTCACCACTATGATCTTCAAGAGTCTGATTCATAGAAAGGTTACTGGGGGCTGCAAGGCCCCTCAATTTTGCATCATCTAAAACAAAACAAAACAAACTACTATGATAAATATGTAAAAGTGACATATTATAAGATTTTGACTCTTTTTGTATTCCTGGGCAGTATTAATCATTTTTCTAAGTATGCCCCATTCTGATATATTTTTCTCATGGTATAAACATGAACAATAACACATACCCCTTGCAAAGATATTCTGGTAAAATAAAGCAAAATATATAAATGAAGATTGTTTACTCATACATTACATATATTAATAATCATCACTGCTTTTTATTCCTTTCCAAAAGACCACAAATAGAAATATTTATGGCCTACAGATTGAAAACTCTACAGCTTACAAGGGATCAAAAGAGCATAGACTTTGAAAATGGGTTTTTACTAGATTACACAGAATCTTATATTCACTCATTTATTCATTCATTTAACAAATATTTATGAAATGTGTACACTGTGCTATGCATTACAAAAGGTTCTACATATAAAATGGTGAACAAAACAGTCATTTCCCCTTTCTTCTCAGAGCTTTCAGTCTAAGGGACCAATATTAAATATATACTCACATACACATAAATGTAACTATAAACTGGGAATGTGAAAGCATAATAAGAAAGAGTAGCAGAAGTGACTTAATTTAGATTGATGGGGAACCAGGGAAGGCTATCAGAAGAACTGATATTTAAGCTGAGACTGAGAGGTAAACTGGAGATAGCCAGGAAAGGTAGAGAAAGAAGGGGAGTATTCCAGGCTAGGACACAGCAACATAAAGGCTCTGAGGTAGACAACTAGAGCCCTTGACAAACTCTAAGAAGGCCTATGTGGATGAACAGGGGAGAAAATTGCATCAAACAAGGCTGGAGTGATAGGCACAAGAAAAACTATGAAGTATTTGTAGAAAATGATAAGAATTTTAGATTTTATCCAAAGTGCAATGAAAACCTCTAAAGACGTCTTAAAAATTTACTAACCATCCTACAGAGAATATTAAAATGTCATCTCAATAAATTAATCTTGGCTTAGAAATCTGTTACACATAAAACATAGCATTTAAAATTTTCATTTAAAATACAAATGTTATGAAGATCTTAAGAATTTGTGAGAATGGGAATTATACCAATGCTAAAGAAAATTCTACTTTCAGATAACAAGTATCTTAAAATATTATGAAAAATATCCTTTATTCTGAAAACATTGTCAGGAAAAGATACCTAATTTCCTCTAAATCACTAGTTCTAATTACCCAGTTGTTTTGGTAACACAAGAGTACACATGTACAGTTTAACAATGCAATCATCTGTCAATTAAGATAGAATAAATGTTGCTGACACACACATTAGGCTGAACATAATTTTTTTTAACACAGGGTTCTTTCATTCATTTAATCTTTTAAAAATTGTACAACATACTTAAACTTTATTATAATATTCTAAAATATTTGGTGGAAACATTTTTCTTAACTTCTAGCACTGAAAAATCCATTCTAATGCATATATATATATATATATATATATATATATATATATATACATATATACACACACCCACATATTCTGATGTCACTATAACCTAAGTGAAATGGGTCATATGAGATTTAGATTGACCACCCATGTTTGCCCTCTGTTAGACCATAAGGTAGCATACTCTTGACAAAACACATGCTGACAGTTAAGAACAGGCTTTGAAATTCAGCTTGATATATTGAACAAATATCATCCACATCTGAAAACGTCTCTTGCTGGAAGCAACTCCGTAACTTGATCATGTAAAAAATATTCATAAAACCCACCTGAAAGTTCTCAGATGTCCATAAAAAGGCCAAAAGTTTTAAATGATGTAGAGTAAAGCCAGCGATAATATCCCAAGATTCCATTCAGTTACATTACTAGACTCCAGATAGCCAATAAGGTAATGAAACCAAACTGGTATGTGAACAAAAATCTGGTAATACTGACATAAATCTTCTAAAAGCACATAACAGTAATCCTTGGATTTAAAAGGCATAA
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Task1_train_3132
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This sequence variant lies in WDR35 (WD repeat domain 35) on Chromosome 2. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; WDR35-related disorder
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GTAGAAGCTATTCTTCTGCTAAGAGTCTAAGTTCATTTTGGAGATGGCCAACAGTCACCTAATTCACTTTCTTAATAACAGGGTTAAAGTTTTAAAAAAGTGAAAAGTAGGCAGCAATAAATCCAGAAATATTATCACTGTGCAGTCAGGATGAACTCCTGTTGTTAGTAAAAGGGGTCTATTTTGGAGATGTTATTTACCCATCCAAATACTGTGATCCAGATGCCAACTTGTGAAAAATTAAATAATCTCTCCTAGTAAAGTATACCTTTATATAACATCCACACAATGATAAGCCCGTTTTCATCACTGGTAGTCAACTTCTGATACTGCTCATTCCATGTTACAACTTGAACAGAACCTAGAACATTATAAAACAATTTAGAAACTTAAAGGTTACAATTAATTTCAAATTCACATTTTTATATAAACACCAAGATCATGTTAAAATCAATATGGTTCCTGTACAGCTAACTAGTCTTTAATATTCCTCAAAACCTATTCATAAGATGCAGTTATTGATATCACTAATTTTCTACAACAATGCATAATACTATTTTTCATATCTATCCCTATTTCATCCCAGTAAAGACACCAATCATGGCTAGCTACCAGAACTACCATATACCTGATGACAGAAACAAATACAAGCATGGTTTACTCAATTGGCCTGACTCCCAAAAATAATGATGTTCAAAGGACACCATAACAAGTACTTGTTTAGGGGACTTTTATCATTTTTGGTAGATATGTCCTATAATCTCTCTTCTGCCCACCTCTCACTCGTTTTCCATTCTATTAGTAAAACACTCTTGAGCATATCTTAAACCTCTAGGGTACGTGAATAATTGATGACTTTTAATTTTTTAATCCCTAAATACTTTAGTGTACATTTCCTAAAAATAAAGACATTCTCTTCCATAATCATATTACAAATTAGGAAGTTTAACACTGATATACTATTATCTAACTCACAGTCCATATACAAATTTTACCAATTGTCCAAATAATGTCCTTTATAGACACTTGTTCTTCTCATTCCAAGATCCAATCTAGGATTATACAGTGCATTTAGTTGTTATACATCTTCAGTCTTTAGTCTTTTTTTTTCTTGAGACAGGATCTTGCACTGTCACCAAGGCTGGAATGCAGTGGCACAATCATGGCTCACTGCAGCCTCCAACTCATGAGCTCAAGCGATCCTCCCACCTCAGCCTCCTGAGTACTGGGGACTACGGGCACACAGCACCACGCCTGGTTAATTTTTTTTATTTTTTGTAGAAACAGGGTCTCATTATGTTGCCCAGGGTGGTTCCAAAATCCCAGCCTCATGCAGTCTTCCCACCTTGGCCTCCCAAAGTGCTTGAACTATAGGTGTTAGCCACTACACCCAGTCTCTTCAGTCTCCTTTAATCTGGAATCATAGGACAGATTCTAAAAAGGATTATATATACAACATCCATAGACAGGAGTATTTTCAATATATTAAAAACAGCTATTTTCTTCTAGATTTATTTAAGATGTTGTTTAATCATGTAAAAGTTGAATGACTCTAAGTTGTATTACTTATGTCTCAACAGAAATGATTACAAACAGCTCCCAACTTACAATGGTACTACTTAAATGACTTTTCGGTGATGGGAATGCAATGCACATTCAGTAGAAACCGTACTTCGAGTGCCCATACAACCATTCTGTTTTTCACTTTTAGTACAGAAATCAATAAGTTACATAAGATATTCAACATTTTAGTATAAAATAGGCTTTATGTCAGATGATTGTGCCCAACTGTAGGCTAGTGTTTTCTGGGCATATTTAAGGTAAGCTAGGCAGAGCTACGATGTTCAGTAGGTTAGGTGTATTAAATGCATTTTCAACTTACAATGGGTTTATTGGAACATATCCCCATCGTAACTCAAAGAGCATCTGTACTGTAAATATTACCATTATTTAAAATGTTGACATTTCTGCATTAAGTAGAAACTTTCTAAATGCCTAAATACCACTCAAACATGACTTAAAAGAAATTGAATGACTCACCACTATGACCTTCAAGAGTCTGATTCATAGAAAGGTTACTGGGGGCTGCAAGGCCCCTCAATTTTGCATCATCTAAAACAAAACAAAACAAACTACTATGATAAATATGTAAAAGTGACATATTATAAGATTTTGACTCTTTTTGTATTCCTGGGCAGTATTAATCATTTTTCTAAGTATGCCCCATTCTGATATATTTTTCTCATGGTATAAACATGAACAATAACACATACCCCTTGCAAAGATATTCTGGTAAAATAAAGCAAAATATATAAATGAAGATTGTTTACTCATACATTACATATATTAATAATCATCACTGCTTTTTATTCCTTTCCAAAAGACCACAAATAGAAATATTTATGGCCTACAGATTGAAAACTCTACAGCTTACAAGGGATCAAAAGAGCATAGACTTTGAAAATGGGTTTTTACTAGATTACACAGAATCTTATATTCACTCATTTATTCATTCATTTAACAAATATTTATGAAATGTGTACACTGTGCTATGCATTACAAAAGGTTCTACATATAAAATGGTGAACAAAACAGTCATTTCCCCTTTCTTCTCAGAGCTTTCAGTCTAAGGGACCAATATTAAATATATACTCACATACACATAAATGTAACTATAAACTGGGAATGTGAAAGCATAATAAGAAAGAGTAGCAGAAGTGACTTAATTTAGATTGATGGGGAACCAGGGAAGGCTATCAGAAGAACTGATATTTAAGCTGAGACTGAGAGGTAAACTGGAGATAGCCAGGAAAGGTAGAGAAAGAAGGGGAGTATTCCAGGCTAGGACACAGCAACATAAAGGCTCTGAGGTAGACAACTAGAGCCCTTGACAAACTCTAAGAAGGCCTATGTGGATGAACAGGGGAGAAAATTGCATCAAACAAGGCTGGAGTGATAGGCACAAGAAAAACTATGAAGTATTTGTAGAAAATGATAAGAATTTTAGATTTTATCCAAAGTGCAATGAAAACCTCTAAAGACGTCTTAAAAATTTACTAACCATCCTACAGAGAATATTAAAATGTCATCTCAATAAATTAATCTTGGCTTAGAAATCTGTTACACATAAAACATAGCATTTAAAATTTTCATTTAAAATACAAATGTTATGAAGATCTTAAGAATTTGTGAGAATGGGAATTATACCAATGCTAAAGAAAATTCTACTTTCAGATAACAAGTATCTTAAAATATTATGAAAAATATCCTTTATTCTGAAAACATTGTCAGGAAAAGATACCTAATTTCCTCTAAATCACTAGTTCTAATTACCCAGTTGTTTTGGTAACACAAGAGTACACATGTACAGTTTAACAATGCAATCATCTGTCAATTAAGATAGAATAAATGTTGCTGACACACACATTAGGCTGAACATAATTTTTTTTAACACAGGGTTCTTTCATTCATTTAATCTTTTAAAAATTGTACAACATACTTAAACTTTATTATAATATTCTAAAATATTTGGTGGAAACATTTTTCTTAACTTCTAGCACTGAAAAATCCATTCTAATGCATATATATATATATATATATATATATATATATATATATACATATATACACACACCCACATATTCTGATGTCACTATAACCTAAGTGAAATGGGTCATATGAGATTTAGATTGACCACCCATGTTTGCCCTCTGTTAGACCATAAGGTAGCATACTCTTGACAAAACACATGCTGACAGTTAAGAACAGGCTTTGAAATTCAGCTTGATATATTGAACAAATATCATCCACATCTGAAAACGTCTCTTGCTGGAAGCAACTCCGTAACTTGATCATGTAAAAAATATTCATAAAACCCACCTGAAAGTTCTCAGATGTCCATAAAAAGGCCAAAAGTTTTAAATGATGTAGAGTAAAGCCAGCGATAATATCCCAAGATTCCATTCAGTTACATTACTAGACTCCAGATAGCCAATAAGGTAATGAAACCAAACTGGTATGTGAACAAAAATCTGGTAATACTGACATAAATCTTCTAAAAGCACATAACAGTAATCCTTGGATTTAAAAGGCATAA
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GTAGAAGCTATTCTTCTGCTAAGAGTCTAAGTTCATTTTGGAGATGGCCAACAGTCACCTAATTCACTTTCTTAATAACAGGGTTAAAGTTTTAAAAAAGTGAAAAGTAGGCAGCAATAAATCCAGAAATATTATCACTGTGCAGTCAGGATGAACTCCTGTTGTTAGTAAAAGGGGTCTATTTTGGAGATGTTATTTACCCATCCAAATACTGTGATCCAGATGCCAACTTGTGAAAAATTAAATAATCTCTCCTAGTAAAGTATACCTTTATATAACATCCACACAATGATAAGCCCGTTTTCATCACTGGTAGTCAACTTCTGATACTGCTCATTCCATGTTACAACTTGAACAGAACCTAGAACATTATAAAACAATTTAGAAACTTAAAGGTTACAATTAATTTCAAATTCACATTTTTATATAAACACCAAGATCATGTTAAAATCAATATGGTTCCTGTACAGCTAACTAGTCTTTAATATTCCTCAAAACCTATTCATAAGATGCAGTTATTGATATCACTAATTTTCTACAACAATGCATAATACTATTTTTCATATCTATCCCTATTTCATCCCAGTAAAGACACCAATCATGGCTAGCTACCAGAACTACCATATACCTGATGACAGAAACAAATACAAGCATGGTTTACTCAATTGGCCTGACTCCCAAAAATAATGATGTTCAAAGGACACCATAACAAGTACTTGTTTAGGGGACTTTTATCATTTTTGGTAGATATGTCCTATAATCTCTCTTCTGCCCACCTCTCACTCGTTTTCCATTCTATTAGTAAAACACTCTTGAGCATATCTTAAACCTCTAGGGTACGTGAATAATTGATGACTTTTAATTTTTTAATCCCTAAATACTTTAGTGTACATTTCCTAAAAATAAAGACATTCTCTTCCATAATCATATTACAAATTAGGAAGTTTAACACTGATATACTATTATCTAACTCACAGTCCATATACAAATTTTACCAATTGTCCAAATAATGTCCTTTATAGACACTTGTTCTTCTCATTCCAAGATCCAATCTAGGATTATACAGTGCATTTAGTTGTTATACATCTTCAGTCTTTAGTCTTTTTTTTTCTTGAGACAGGATCTTGCACTGTCACCAAGGCTGGAATGCAGTGGCACAATCATGGCTCACTGCAGCCTCCAACTCATGAGCTCAAGCGATCCTCCCACCTCAGCCTCCTGAGTACTGGGGACTACGGGCACACAGCACCACGCCTGGTTAATTTTTTTTATTTTTTGTAGAAACAGGGTCTCATTATGTTGCCCAGGGTGGTTCCAAAATCCCAGCCTCATGCAGTCTTCCCACCTTGGCCTCCCAAAGTGCTTGAACTATAGGTGTTAGCCACTACACCCAGTCTCTTCAGTCTCCTTTAATCTGGAATCATAGGACAGATTCTAAAAAGGATTATATATACAACATCCATAGACAGGAGTATTTTCAATATATTAAAAACAGCTATTTTCTTCTAGATTTATTTAAGATGTTGTTTAATCATGTAAAAGTTGAATGACTCTAAGTTGTATTACTTATGTCTCAACAGAAATGATTACAAACAGCTCCCAACTTACAATGGTACTACTTAAATGACTTTTCGGTGATGGGAATGCAATGCACATTCAGTAGAAACCGTACTTCGAGTGCCCATACAACCATTCTGTTTTTCACTTTTAGTACAGAAATCAATAAGTTACATAAGATATTCAACATTTTAGTATAAAATAGGCTTTATGTCAGATGATTGTGCCCAACTGTAGGCTAGTGTTTTCTGGGCATATTTAAGGTAAGCTAGGCAGAGCTACGATGTTCAGTAGGTTAGGTGTATTAAATGCATTTTCAACTTACAATGGGTTTATTGGAACATATCCCCATCGTAACTCAAAGAGCATCTGTACTGTAAATATTACCATTATTTAAAATGTTGACATTTCTGCATTAAGTAGAAACTTTCTAAATGCCTAAATACCACTCAAACATGACTTAAAAGAAATTGAATGACTCACCACTATGATCTTCAAGAGTCTGATTCATAGAAAGGTTACTGGGGGCTGCAAGGCCCCTCAATTTTGCATCATCTAAAACAAAACAAAACAAACTACTATGATAAATATGTAAAAGTGACATATTATAAGATTTTGACTCTTTTTGTATTCCTGGGCAGTATTAATCATTTTTCTAAGTATGCCCCATTCTGATATATTTTTCTCATGGTATAAACATGAACAATAACACATACCCCTTGCAAAGATATTCTGGTAAAATAAAGCAAAATATATAAATGAAGATTGTTTACTCATACATTACATATATTAATAATCATCACTGCTTTTTATTCCTTTCCAAAAGACCACAAATAGAAATATTTATGGCCTACAGATTGAAAACTCTACAGCTTACAAGGGATCAAAAGAGCATAGACTTTGAAAATGGGTTTTTACTAGATTACACAGAATCTTATATTCACTCATTTATTCATTCATTTAACAAATATTTATGAAATGTGTACACTGTGCTATGCATTACAAAAGGTTCTACATATAAAATGGTGAACAAAACAGTCATTTCCCCTTTCTTCTCAGAGCTTTCAGTCTAAGGGACCAATATTAAATATATACTCACATACACATAAATGTAACTATAAACTGGGAATGTGAAAGCATAATAAGAAAGAGTAGCAGAAGTGACTTAATTTAGATTGATGGGGAACCAGGGAAGGCTATCAGAAGAACTGATATTTAAGCTGAGACTGAGAGGTAAACTGGAGATAGCCAGGAAAGGTAGAGAAAGAAGGGGAGTATTCCAGGCTAGGACACAGCAACATAAAGGCTCTGAGGTAGACAACTAGAGCCCTTGACAAACTCTAAGAAGGCCTATGTGGATGAACAGGGGAGAAAATTGCATCAAACAAGGCTGGAGTGATAGGCACAAGAAAAACTATGAAGTATTTGTAGAAAATGATAAGAATTTTAGATTTTATCCAAAGTGCAATGAAAACCTCTAAAGACGTCTTAAAAATTTACTAACCATCCTACAGAGAATATTAAAATGTCATCTCAATAAATTAATCTTGGCTTAGAAATCTGTTACACATAAAACATAGCATTTAAAATTTTCATTTAAAATACAAATGTTATGAAGATCTTAAGAATTTGTGAGAATGGGAATTATACCAATGCTAAAGAAAATTCTACTTTCAGATAACAAGTATCTTAAAATATTATGAAAAATATCCTTTATTCTGAAAACATTGTCAGGAAAAGATACCTAATTTCCTCTAAATCACTAGTTCTAATTACCCAGTTGTTTTGGTAACACAAGAGTACACATGTACAGTTTAACAATGCAATCATCTGTCAATTAAGATAGAATAAATGTTGCTGACACACACATTAGGCTGAACATAATTTTTTTTAACACAGGGTTCTTTCATTCATTTAATCTTTTAAAAATTGTACAACATACTTAAACTTTATTATAATATTCTAAAATATTTGGTGGAAACATTTTTCTTAACTTCTAGCACTGAAAAATCCATTCTAATGCATATATATATATATATATATATATATATATATATATATACATATATACACACACCCACATATTCTGATGTCACTATAACCTAAGTGAAATGGGTCATATGAGATTTAGATTGACCACCCATGTTTGCCCTCTGTTAGACCATAAGGTAGCATACTCTTGACAAAACACATGCTGACAGTTAAGAACAGGCTTTGAAATTCAGCTTGATATATTGAACAAATATCATCCACATCTGAAAACGTCTCTTGCTGGAAGCAACTCCGTAACTTGATCATGTAAAAAATATTCATAAAACCCACCTGAAAGTTCTCAGATGTCCATAAAAAGGCCAAAAGTTTTAAATGATGTAGAGTAAAGCCAGCGATAATATCCCAAGATTCCATTCAGTTACATTACTAGACTCCAGATAGCCAATAAGGTAATGAAACCAAACTGGTATGTGAACAAAAATCTGGTAATACTGACATAAATCTTCTAAAAGCACATAACAGTAATCCTTGGATTTAAAAGGCATAA
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Task1_train_3133
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Given this variant in gene MATN3, WDR35-DT (matrilin 3| WDR35 divergent transcript) on Chromosome 2, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Spondyloepimetaphyseal dysplasia, matrilin-3 type
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AGATTTATGAAAAGGTTGCAAAAACAGTGCAAAAAATTCCTGTACTTCACCCTGTTTCCCCAAACAGTAATTTACATAACCATAGTATGATTATCAAACCAGAAATTAACATTGATATAATATGATTTACTAATCTACAGACTTTATTCAAATGTTGCCATTAATGTCCTTTTTCTGGTCCAGGATCCAATCCAGGATTCCACATTGCATTCAGTTTCACATCTCCGTCCTCTCCAACCTGGGACACTTCCTAAGTCTTTCTTTGTCTTTTATGACTTTCACGTTTCTGAGAAGTACTGGAAAACTATTTTGTGAACTGAGAGTGTCTCTCAGGTTTTTCTAATCTTTCCTCATAATCCTGAATTTTTAGCAAGAATACTACAGGTGTGCTGTTGTGTCCACAGTATTGAGCACAGCATGTCAGGTCATACATGATGTCACTATGTGTCATCACTGATGATGTTAACTTTGATCACTTAGTTAAGGTGATGTCTGCCAGTTTCTCCACTATAAAGTTACTGTCTTTCCCTTTGTAAGCAACAGGTAACTTGTGGGTTGTTATGTGATTTCAACCTACTGAATTGTCTGTAGCATTTGGGAAGGATTGTTCAGGCTGGCTACAGAGAAGGAAATGAGCAACATATTTATGTATTTGGGCCGAGATACATACATGTTACCATTTCTAACATTTTGGATAAGACTTAAAAATGGGAAAAGCTCAAGGTGGCAAGAGAGGAAAACACACCAACTTCCCAGTCAATGTGACCTGCCCTTCCATCACCGGGTAGGTAGGCAGAGAGCTAAGTAGCAATAGTAAAGACTCCTCCCTCACTTACCTGAACAAGTTTTCCTGTCTTCATTCAAGGTATAACCTTCATAGCACTCACAATGATAAGAGCCACTTCTGTCATTCACACAGATGTGCTCACATCCGTGGGTGTTAAGAGCACACCTATCAAGAGCTATCAAAAGATGATTGGGACAAATGTAAATGCATGCAGAGCATGGCAGAAATAATTGTGGGCCACGCCACTTACAGTTATACACACACACACACACACACACACACACACAGAGCTAATGAAACAAGGGAGGGGCAGCTGGGAGTTGGGAACCAACCCTCCGGTCTTGGCTCTTTCACTAAGAGACCCTGTGACATAGGTAAGTTTTTTCCCTTCTGTCCATCTCAATTTCATTATCTATAAAATTAAGTTATCTCTAAGCTTTCTTCCTCCCAAAAACTTTTTTCTAGGATTAAAAACAAAACAAAAAAATATATAATTCCCATTCCTCATTGACTCCATGTATGTATCTATGTACCAGACCAGTGAGTACCCCTCTAACTTCTTTGCTACTTCTAGATTCCATGAGCATCTATGACTAGAGAGGAAGAGGGTAGCTTGCATGTAATGAAATAAAATCCAGGAAAATTTTCAAATCCTCAAAAGGGCTAAGAATCTTGGACCCGTTTCTTTTCCTTTTTGTGTGTGTGGGTTCTGTTTTCTGAAAGAAGGTCTCCCTCTGTGGCAGTGCAGCAGAGGCATTATCATAGCTCACTGCAGCCTCGACCTCCTGGTCTCAAACAATCCTCCCATCTCGGCCTCCCAAGTAACTGGGACTACAGGCATGCACCACCACACCTGGCTTTTTTTTTTAAATTATTTTTTGTAGAGATGGGGTCTCACCATGTTCTCGAGGCTAATCTCGAATTAGCCTCAAACTATCCTACCATCTCAGCCTCCCAAAATGTGGGAATTATAGGCATGAGCTACTGCACTCAGCCTGGACCTCTTTCTTAGTAGCCTTTTCTCCTACGATTTTATTTAAAACTTACAAAGTATGGAAATAAGCTGATTTATCTATCATTTCACTTTTCTCCCTAAGCTCCTTTTCAGGGAAAACTGCTGATGAACACCAGTAAACCAGCCAAAAGGCAGTTAGGTAAAAAGGGGTCAGAGAGTCAAAGCACAAGGCCAGTCCAAAACCTGGAGCATAGGTTCCCAAGTATTTGATTCAGTCACGGCCCCCTACACAGGCCTCACCTGAACACGTTTTCTTGTCGGCATTCAAGGTGTATCCTTGGCTACACTCACAGTGGTGCTTGCCTTCCCCATCACTGATGCAGACGTGCTGGCACTGGTGTGTTCCAAGCACACAGGGGTCCAGCGCTGTGAGAGGAAGTTTACAACAGTCAGCACTGACACTTAGGAAACATCTCAGATACCGTCTCCCATGTCAATAGACATTGCTCTCTGGGCTCCTTTCCGAGTCCATCTTTACTTCACTATAAAAAAATGGTTATTTGTTTTCTGCCTCTGGCTTATTAGCAATGCTACTCTTAAACTAGAAATTGTTGCTAATTTAAAAGTACACATCTTGCTATATAGACTTTCTCAAGGGAGAAAGGGAATTTGGAGTTTGGAGCTGAAGCCAAACACTTACATAGGCCAGGCAATTGGATGTTTTATTTGGCTTATCCGCCTCCCCATGAAAAAAAGATTTGTGCTTCCCCACCACAAGAAATGGGAGAACAATAAATGCACAGCCTGAAGTGACGTGAGCTAGTTGTCCCATTGTAGCCAGAATCTGATTTCCAAGGTTCTATAGCCTATGTCTAAACAGAATTCTCACACAAGTCTGGGTCTAAGCCTAGAACGAACTCACAGGTGGGCAGTGGTACATATTTGAACATGCAAATGGTAGAGGACAGTTCGGGTAACTGTCTTCTGAATATGTAAGGTGGGTGAAGTCATCCATACGCTAAATCCATAGTGAACTCATATGCTAATACAAACAGGTAAAAAGAAAAGAACAAAATAAATGAGATTACATTAGCTAAACTACATCTCCATCTTATTGCTCCTGGAGCCATTTATATCTCATTGGATATTTTTTTCCTAGTGACCTCTTTTGAAAGATGAATCAATGAATTAAGTCATTTCTGAGAAACCAAGGAGGCCTGTTGAAGGAGGCTGGCCCTCCTGTGGCAGGTAACCCAACCTCCACTGCCCTTGGCAACAGGACAAGGCTAATATTTTCCCAAGAAGGGCCTTTTCATGGAATGATCTTTCCAACCCGTTGACTACAACAAGCTGCCGCTCAGTCTTTTTTCCATAGAGAGGACGTTTTTCCCCCAGAACAAGCAGGTCTTTTGTACCAGAAGGAAAAGATTGCCACTCACCACTTGTTACTTTATAGCCTTCGAAGCCCAACCCCAGGTGCTAGCTTTGAAACCCAACTTTGCCACAGACCAGCATGTTGATGGAGAGGCTCTCACCCACAAGCATGGAGTGGGAGGGTGATTTCCTGGGAGAAAGAAAGCCACTTTCTTTTTGGAAGCCAACGAATGCCAAGTAGATGCCACCAAAGCCAGTGATGGCTTGTGAAAGCCCAGTGTCCTGGGACAGGAAAGACAAGGGGATCCCAGCCAAGTCTGACTGCAATGAGGCCAAACGTTGCCCCAGAGCAAGACTTCATCTCCCTTTTCCTGACAAACCATTGATGGCTGCGTTTCACATTAACCTAGATTAAAAGTCTCCTTGAAATGTATAATTGTAATTAATTATTGGTTCATTTGTTTGTCTCACCCCCACCCCCAGAATGTTACTTAATGGTATGGAGGGATTACCTTTATCTTTGTATCATCAGAGATCAATAAATGCATGCTGAATAAATAAGTGTGAAATAAATTATATTGCAAAAAGATATCTATGTTTAAAAATTCACCTGAACTAGAAATTTGTCCACAACTGCTTGGATATTCACATAGAGGGAACAAAAGATTATCTCCAGATGATAAAAAAATAAAGCATGAGTCCCACAGATCATAATTCTGATCAGTGACTAAAATTAAACTCCAGCATTGAATGGATCTGTAGTCCTAGATTTGGTCAATTCATGCTAAAAATTCCAATAAAATTAGCATGTCCTTATTCAAATTCCATCCTAAAGGATGGAAGGAGTAGCAGAGTTAACAGAATGATTTCTTAAGATCATCTTGCTTTCTTTCAAGTGAGCTGAAACCCTAATCTGCCTGGTCCCTGAATCCTGTTCTTCAACAAAGAGTAATCAGATAAACAGCCCAGTCTGAAAACCA
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AGATTTATGAAAAGGTTGCAAAAACAGTGCAAAAAATTCCTGTACTTCACCCTGTTTCCCCAAACAGTAATTTACATAACCATAGTATGATTATCAAACCAGAAATTAACATTGATATAATATGATTTACTAATCTACAGACTTTATTCAAATGTTGCCATTAATGTCCTTTTTCTGGTCCAGGATCCAATCCAGGATTCCACATTGCATTCAGTTTCACATCTCCGTCCTCTCCAACCTGGGACACTTCCTAAGTCTTTCTTTGTCTTTTATGACTTTCACGTTTCTGAGAAGTACTGGAAAACTATTTTGTGAACTGAGAGTGTCTCTCAGGTTTTTCTAATCTTTCCTCATAATCCTGAATTTTTAGCAAGAATACTACAGGTGTGCTGTTGTGTCCACAGTATTGAGCACAGCATGTCAGGTCATACATGATGTCACTATGTGTCATCACTGATGATGTTAACTTTGATCACTTAGTTAAGGTGATGTCTGCCAGTTTCTCCACTATAAAGTTACTGTCTTTCCCTTTGTAAGCAACAGGTAACTTGTGGGTTGTTATGTGATTTCAACCTACTGAATTGTCTGTAGCATTTGGGAAGGATTGTTCAGGCTGGCTACAGAGAAGGAAATGAGCAACATATTTATGTATTTGGGCCGAGATACATACATGTTACCATTTCTAACATTTTGGATAAGACTTAAAAATGGGAAAAGCTCAAGGTGGCAAGAGAGGAAAACACACCAACTTCCCAGTCAATGTGACCTGCCCTTCCATCACCGGGTAGGTAGGCAGAGAGCTAAGTAGCAATAGTAAAGACTCCTCCCTCACTTACCTGAACAAGTTTTCCTGTCTTCATTCAAGGTATAACCTTCATAGCACTCACAATGATAAGAGCCACTTCTGTCATTCACACAGATGTGCTCACATCCGTGGGTGTTAAGAGCACACCTATCAAGAGCTATCAAAAGATGATTGGGACAAATGTAAATGCATGCAGAGCATGGCAGAAATAATTGTGGGCCACGCCACTTACAGTTATACACACACACACACACACACACACACACACAGAGCTAATGAAACAAGGGAGGGGCAGCTGGGAGTTGGGAACCAACCCTCCGGTCTTGGCTCTTTCACTAAGAGACCCTGTGACATAGGTAAGTTTTTTCCCTTCTGTCCATCTCAATTTCATTATCTATAAAATTAAGTTATCTCTAAGCTTTCTTCCTCCCAAAAACTTTTTTCTAGGATTAAAAACAAAACAAAAAAATATATAATTCCCATTCCTCATTGACTCCATGTATGTATCTATGTACCAGACCAGTGAGTACCCCTCTAACTTCTTTGCTACTTCTAGATTCCATGAGCATCTATGACTAGAGAGGAAGAGGGTAGCTTGCATGTAATGAAATAAAATCCAGGAAAATTTTCAAATCCTCAAAAGGGCTAAGAATCTTGGACCCGTTTCTTTTCCTTTTTGTGTGTGTGGGTTCTGTTTTCTGAAAGAAGGTCTCCCTCTGTGGCAGTGCAGCAGAGGCATTATCATAGCTCACTGCAGCCTCGACCTCCTGGTCTCAAACAATCCTCCCATCTCGGCCTCCCAAGTAACTGGGACTACAGGCATGCACCACCACACCTGGCTTTTTTTTTTAAATTATTTTTTGTAGAGATGGGGTCTCACCATGTTCTCGAGGCTAATCTCGAATTAGCCTCAAACTATCCTACCATCTCAGCCTCCCAAAATGTGGGAATTATAGGCATGAGCTACTGCACTCAGCCTGGACCTCTTTCTTAGTAGCCTTTTCTCCTACGATTTTATTTAAAACTTACAAAGTATGGAAATAAGCTGATTTATCTATCATTTCACTTTTCTCCCTAAGCTCCTTTTCAGGGAAAACTGCTGATGAACACCAGTAAACCAGCCAAAAGGCAGTTAGGTAAAAAGGGGTCAGAGAGTCAAAGCACAAGGCCAGTCCAAAACCTGGAGCATAGGTTCCCAAGTATTTGATTCAGTCACGGCCCCCTACACAGGCCTCACCTGAACTCGTTTTCTTGTCGGCATTCAAGGTGTATCCTTGGCTACACTCACAGTGGTGCTTGCCTTCCCCATCACTGATGCAGACGTGCTGGCACTGGTGTGTTCCAAGCACACAGGGGTCCAGCGCTGTGAGAGGAAGTTTACAACAGTCAGCACTGACACTTAGGAAACATCTCAGATACCGTCTCCCATGTCAATAGACATTGCTCTCTGGGCTCCTTTCCGAGTCCATCTTTACTTCACTATAAAAAAATGGTTATTTGTTTTCTGCCTCTGGCTTATTAGCAATGCTACTCTTAAACTAGAAATTGTTGCTAATTTAAAAGTACACATCTTGCTATATAGACTTTCTCAAGGGAGAAAGGGAATTTGGAGTTTGGAGCTGAAGCCAAACACTTACATAGGCCAGGCAATTGGATGTTTTATTTGGCTTATCCGCCTCCCCATGAAAAAAAGATTTGTGCTTCCCCACCACAAGAAATGGGAGAACAATAAATGCACAGCCTGAAGTGACGTGAGCTAGTTGTCCCATTGTAGCCAGAATCTGATTTCCAAGGTTCTATAGCCTATGTCTAAACAGAATTCTCACACAAGTCTGGGTCTAAGCCTAGAACGAACTCACAGGTGGGCAGTGGTACATATTTGAACATGCAAATGGTAGAGGACAGTTCGGGTAACTGTCTTCTGAATATGTAAGGTGGGTGAAGTCATCCATACGCTAAATCCATAGTGAACTCATATGCTAATACAAACAGGTAAAAAGAAAAGAACAAAATAAATGAGATTACATTAGCTAAACTACATCTCCATCTTATTGCTCCTGGAGCCATTTATATCTCATTGGATATTTTTTTCCTAGTGACCTCTTTTGAAAGATGAATCAATGAATTAAGTCATTTCTGAGAAACCAAGGAGGCCTGTTGAAGGAGGCTGGCCCTCCTGTGGCAGGTAACCCAACCTCCACTGCCCTTGGCAACAGGACAAGGCTAATATTTTCCCAAGAAGGGCCTTTTCATGGAATGATCTTTCCAACCCGTTGACTACAACAAGCTGCCGCTCAGTCTTTTTTCCATAGAGAGGACGTTTTTCCCCCAGAACAAGCAGGTCTTTTGTACCAGAAGGAAAAGATTGCCACTCACCACTTGTTACTTTATAGCCTTCGAAGCCCAACCCCAGGTGCTAGCTTTGAAACCCAACTTTGCCACAGACCAGCATGTTGATGGAGAGGCTCTCACCCACAAGCATGGAGTGGGAGGGTGATTTCCTGGGAGAAAGAAAGCCACTTTCTTTTTGGAAGCCAACGAATGCCAAGTAGATGCCACCAAAGCCAGTGATGGCTTGTGAAAGCCCAGTGTCCTGGGACAGGAAAGACAAGGGGATCCCAGCCAAGTCTGACTGCAATGAGGCCAAACGTTGCCCCAGAGCAAGACTTCATCTCCCTTTTCCTGACAAACCATTGATGGCTGCGTTTCACATTAACCTAGATTAAAAGTCTCCTTGAAATGTATAATTGTAATTAATTATTGGTTCATTTGTTTGTCTCACCCCCACCCCCAGAATGTTACTTAATGGTATGGAGGGATTACCTTTATCTTTGTATCATCAGAGATCAATAAATGCATGCTGAATAAATAAGTGTGAAATAAATTATATTGCAAAAAGATATCTATGTTTAAAAATTCACCTGAACTAGAAATTTGTCCACAACTGCTTGGATATTCACATAGAGGGAACAAAAGATTATCTCCAGATGATAAAAAAATAAAGCATGAGTCCCACAGATCATAATTCTGATCAGTGACTAAAATTAAACTCCAGCATTGAATGGATCTGTAGTCCTAGATTTGGTCAATTCATGCTAAAAATTCCAATAAAATTAGCATGTCCTTATTCAAATTCCATCCTAAAGGATGGAAGGAGTAGCAGAGTTAACAGAATGATTTCTTAAGATCATCTTGCTTTCTTTCAAGTGAGCTGAAACCCTAATCTGCCTGGTCCCTGAATCCTGTTCTTCAACAAAGAGTAATCAGATAAACAGCCCAGTCTGAAAACCA
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Task1_train_3134
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A mutation on Chromosome 2 affecting MATN3 (matrilin 3) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; not provided
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TCGGGTAACTGTCTTCTGAATATGTAAGGTGGGTGAAGTCATCCATACGCTAAATCCATAGTGAACTCATATGCTAATACAAACAGGTAAAAAGAAAAGAACAAAATAAATGAGATTACATTAGCTAAACTACATCTCCATCTTATTGCTCCTGGAGCCATTTATATCTCATTGGATATTTTTTTCCTAGTGACCTCTTTTGAAAGATGAATCAATGAATTAAGTCATTTCTGAGAAACCAAGGAGGCCTGTTGAAGGAGGCTGGCCCTCCTGTGGCAGGTAACCCAACCTCCACTGCCCTTGGCAACAGGACAAGGCTAATATTTTCCCAAGAAGGGCCTTTTCATGGAATGATCTTTCCAACCCGTTGACTACAACAAGCTGCCGCTCAGTCTTTTTTCCATAGAGAGGACGTTTTTCCCCCAGAACAAGCAGGTCTTTTGTACCAGAAGGAAAAGATTGCCACTCACCACTTGTTACTTTATAGCCTTCGAAGCCCAACCCCAGGTGCTAGCTTTGAAACCCAACTTTGCCACAGACCAGCATGTTGATGGAGAGGCTCTCACCCACAAGCATGGAGTGGGAGGGTGATTTCCTGGGAGAAAGAAAGCCACTTTCTTTTTGGAAGCCAACGAATGCCAAGTAGATGCCACCAAAGCCAGTGATGGCTTGTGAAAGCCCAGTGTCCTGGGACAGGAAAGACAAGGGGATCCCAGCCAAGTCTGACTGCAATGAGGCCAAACGTTGCCCCAGAGCAAGACTTCATCTCCCTTTTCCTGACAAACCATTGATGGCTGCGTTTCACATTAACCTAGATTAAAAGTCTCCTTGAAATGTATAATTGTAATTAATTATTGGTTCATTTGTTTGTCTCACCCCCACCCCCAGAATGTTACTTAATGGTATGGAGGGATTACCTTTATCTTTGTATCATCAGAGATCAATAAATGCATGCTGAATAAATAAGTGTGAAATAAATTATATTGCAAAAAGATATCTATGTTTAAAAATTCACCTGAACTAGAAATTTGTCCACAACTGCTTGGATATTCACATAGAGGGAACAAAAGATTATCTCCAGATGATAAAAAAATAAAGCATGAGTCCCACAGATCATAATTCTGATCAGTGACTAAAATTAAACTCCAGCATTGAATGGATCTGTAGTCCTAGATTTGGTCAATTCATGCTAAAAATTCCAATAAAATTAGCATGTCCTTATTCAAATTCCATCCTAAAGGATGGAAGGAGTAGCAGAGTTAACAGAATGATTTCTTAAGATCATCTTGCTTTCTTTCAAGTGAGCTGAAACCCTAATCTGCCTGGTCCCTGAATCCTGTTCTTCAACAAAGAGTAATCAGATAAACAGCCCAGTCTGAAAACCAGAGCATTCACTAAATGCACACTCGGGCTGACGGTGACATTGGAATAGAGGCCTGCTGACTCTCCCAAGGACAGACGCTTCTCCCTGTCTTCTGCAGGAGAACAAACAGAGTTCTGTTAGATCTAGAGATGGTAAAACTAAAAAAATATGTATCAGGGGAAAAAAATGTAGTGGTGGGGCAGAGGGGACAGGAGAGGCATCTTGAGTTTTGTTTTTCCTGACCCTGACAGGGAACAGCAGGGTCATTTATCCTGGATATTTGCAGACCTTCACAGTTCTAACGCAAACATGAAGATTTTATGAGCAAACCAAGTTCCATATAATGCAGCTCTATATTCCTAAACCAATAGAGTGTGTTTAGGTTGGTCGCACACACGCGCGCATGCACACGTGCACACACACACACGCATTGGATATATTTAAGTTTTTCATTAAATTTCCACCAAAAAAGAATAATACTCTTTTCTCTGGGTACACAATGTCTGAATATAACATCCTTTCTAGTTGGAAGCAAAGACTGACCAACTTACCACAGAAGGTTTCCTGGAATCTAGAGGAAAGTTTCTCAATGACCCCATAGGTCTCCACGTAGAAAACATGCTCCTCTAGGGGCTCACTGGCCATCATCTTGAGGGACGCCATGTCTGCCCGGTCCACGCCCACAGCATAGAGCTCAATACCAGATGCTTGGGCCCGAGCCGCCACCTCATTCACCTGGTCCTGGGGCCTCCCATCTGTAACAATGATGGCCACCTTAGGGATGTTAGAAGAGGGCTCTCGAGCCCCTGCCTCCACTGTGAAGGCTTCGTCCATTGCTGTCTGGATGGCTAGGCCTGACATGGTGCCTGTTGACAAGGGTGTGATTCGACCCACGGCCTGCTTCAGGGACTGCTTATCTGTGTAGGCCTGGAGTTGGAACTCGATCTTCACAGTGCTAGCATAGTTCACCACTGCCACCCGCGTGTCGGCTGGCCCAATGTCCAGAGTGTCGATTATCCGGGAGACAAAAGTTTTCACTTTGGTGAATTCCAGGGGCCGTACGCTACGAGAACTATCAATGATAAACACCAGGTCCAAGGGTCTGCTCTTGCAAACACCTGCAAAAGACCAAGCAATGATCAGACCACAATTAGAAATGCAGTAATCCTCACTTCCAGAGAACTCTGGGATTCCAGGAGGCCAGGCAAGGCAGCATCTCCTGACCCCAACATCACCACTGCCTGCGACCTTCCCCAAGACCATCGGGGTGTTGAAAGCACCAAGGACTTCAGAATTCCCTAGTGAGAATTCACCTGGAGGTGTGAAGTTTCCCCAAATACCTCACCTGCAGGCTGGCTGAATCCTGAAATTTCACTTAGAACCTCATCCCTCTGCTTAAGCTTTTGCTCCCAAGGGCCCTCATGATTCCTGGGAATTAATAGATTCTACACATTTCTTAAGTACCTTGGCTATCTGGAGCAATTGGACAATGTGTCCCTGAACCATGTAAAAGGCCTTGGGCCCTCAGGGACAGCCTCACTGCCAACCACTGTGCCCAAGCCTCAGGCAATGGTAGTCTGAGGCAAGGCACTCAGGGGCTCTTCTGGTGGCCCCCCTCTTTTACTCCACTTCCAAGGGGCTGAAAACTGCTCCAGAGTATCCCTGAATTCTCCCTCCATCTGGCCATCTTTCCTGTTTAGTGAATTTGGGGGCTCACTGGAGCCCTGAACTAATTTAAAGTAGAGCCAGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAAATCAAGAGGTCAGGAGATCAAGACCATCACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTAGTGGGTGCCTGTATTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCGTGAACCTGGGAGACAGAGCTTGCAGTGAGCTGAGATTACGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAACAAAACAAAAAAAAAAGTAAGTAGAAAGAGGGGCCCGGGCGCGGTGGCTCACGCCTGGTAATCCCAACACTGTGGGAGGCCGAGGCGGGAGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACTTGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCGGGTCGTAGTGGCATGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTAAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCCTGCCATTGCACTCCAGCCTGGGCAATAAGAGCAAGACATCATCTCAAAAAAAAAGTAGAATGAGGGATGCCAACTTAATCTTGTATCTGTTTAGTGAGCTTCCAGCTTCATGAGCATGTCTCGTAAGAAGCAGGGATTGTGATCTGGTATCTACCCTACTGCCCCAACTAACTCTCTTGGTCATCTCTCTTTTGACTTATTCATTCACCAAAAACATTTTTTGAGGGCCTACATGTATGAAGCCCTGGAGCTACAAAAGCATATAAACCAGATAGCCAGATTTCCCACCTTCAAAGAATTTATCTCTTTTCTACACAAAAGTACCTAACAGTTTAGTATCACAGTACATTTTAGTGTTCATCTATTCTTTCCTGTTCTTTCCTGTTTCCCCCAACCCCTGTTTGCACACCCTCTCTCCTCGATACAAAAATCAAATCCACA
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TCGGGTAACTGTCTTCTGAATATGTAAGGTGGGTGAAGTCATCCATACGCTAAATCCATAGTGAACTCATATGCTAATACAAACAGGTAAAAAGAAAAGAACAAAATAAATGAGATTACATTAGCTAAACTACATCTCCATCTTATTGCTCCTGGAGCCATTTATATCTCATTGGATATTTTTTTCCTAGTGACCTCTTTTGAAAGATGAATCAATGAATTAAGTCATTTCTGAGAAACCAAGGAGGCCTGTTGAAGGAGGCTGGCCCTCCTGTGGCAGGTAACCCAACCTCCACTGCCCTTGGCAACAGGACAAGGCTAATATTTTCCCAAGAAGGGCCTTTTCATGGAATGATCTTTCCAACCCGTTGACTACAACAAGCTGCCGCTCAGTCTTTTTTCCATAGAGAGGACGTTTTTCCCCCAGAACAAGCAGGTCTTTTGTACCAGAAGGAAAAGATTGCCACTCACCACTTGTTACTTTATAGCCTTCGAAGCCCAACCCCAGGTGCTAGCTTTGAAACCCAACTTTGCCACAGACCAGCATGTTGATGGAGAGGCTCTCACCCACAAGCATGGAGTGGGAGGGTGATTTCCTGGGAGAAAGAAAGCCACTTTCTTTTTGGAAGCCAACGAATGCCAAGTAGATGCCACCAAAGCCAGTGATGGCTTGTGAAAGCCCAGTGTCCTGGGACAGGAAAGACAAGGGGATCCCAGCCAAGTCTGACTGCAATGAGGCCAAACGTTGCCCCAGAGCAAGACTTCATCTCCCTTTTCCTGACAAACCATTGATGGCTGCGTTTCACATTAACCTAGATTAAAAGTCTCCTTGAAATGTATAATTGTAATTAATTATTGGTTCATTTGTTTGTCTCACCCCCACCCCCAGAATGTTACTTAATGGTATGGAGGGATTACCTTTATCTTTGTATCATCAGAGATCAATAAATGCATGCTGAATAAATAAGTGTGAAATAAATTATATTGCAAAAAGATATCTATGTTTAAAAATTCACCTGAACTAGAAATTTGTCCACAACTGCTTGGATATTCACATAGAGGGAACAAAAGATTATCTCCAGATGATAAAAAAATAAAGCATGAGTCCCACAGATCATAATTCTGATCAGTGACTAAAATTAAACTCCAGCATTGAATGGATCTGTAGTCCTAGATTTGGTCAATTCATGCTAAAAATTCCAATAAAATTAGCATGTCCTTATTCAAATTCCATCCTAAAGGATGGAAGGAGTAGCAGAGTTAACAGAATGATTTCTTAAGATCATCTTGCTTTCTTTCAAGTGAGCTGAAACCCTAATCTGCCTGGTCCCTGAATCCTGTTCTTCAACAAAGAGTAATCAGATAAACAGCCCAGTCTGAAAACCAGAGCATTCACTAAATGCACACTCGGGCTGACGGTGACATTGGAATAGAGGCCTGCTGACTCTCCCAAGGACAGACGCTTCTCCCTGTCTTCTGCAGGAGAACAAACAGAGTTCTGTTAGATCTAGAGATGGTAAAACTAAAAAAATATGTATCAGGGGAAAAAAATGTAGTGGTGGGGCAGAGGGGACAGGAGAGGCATCTTGAGTTTTGTTTTTCCTGACCCTGACAGGGAACAGCAGGGTCATTTATCCTGGATATTTGCAGACCTTCACAGTTCTAACGCAAACATGAAGATTTTATGAGCAAACCAAGTTCCATATAATGCAGCTCTATATTCCTAAACCAATAGAGTGTGTTTAGGTTGGTCGCACACACGCGCGCATGCACACGTGCACACACACACACGCATTGGATATATTTAAGTTTTTCATTAAATTTCCACCAAAAAAGAATAATACTCTTTTCTCTGGGTACACAATGTCTGAATATAACATCCTTTCTAGTTGGAAGCAAAGACTGACCAACTTACCACAGAAGGTTTCCTGGAATCTAGAGGAAAGTTTCTCAATGACCCCATAGGTCTCCACGTAGAAAACATGCTCCTCTAGGGGCTCACTGGCCATCATCTTGAGGGACGCCATGTCTGCCCGGTCCACGCCCACATCATAGAGCTCAATACCAGATGCTTGGGCCCGAGCCGCCACCTCATTCACCTGGTCCTGGGGCCTCCCATCTGTAACAATGATGGCCACCTTAGGGATGTTAGAAGAGGGCTCTCGAGCCCCTGCCTCCACTGTGAAGGCTTCGTCCATTGCTGTCTGGATGGCTAGGCCTGACATGGTGCCTGTTGACAAGGGTGTGATTCGACCCACGGCCTGCTTCAGGGACTGCTTATCTGTGTAGGCCTGGAGTTGGAACTCGATCTTCACAGTGCTAGCATAGTTCACCACTGCCACCCGCGTGTCGGCTGGCCCAATGTCCAGAGTGTCGATTATCCGGGAGACAAAAGTTTTCACTTTGGTGAATTCCAGGGGCCGTACGCTACGAGAACTATCAATGATAAACACCAGGTCCAAGGGTCTGCTCTTGCAAACACCTGCAAAAGACCAAGCAATGATCAGACCACAATTAGAAATGCAGTAATCCTCACTTCCAGAGAACTCTGGGATTCCAGGAGGCCAGGCAAGGCAGCATCTCCTGACCCCAACATCACCACTGCCTGCGACCTTCCCCAAGACCATCGGGGTGTTGAAAGCACCAAGGACTTCAGAATTCCCTAGTGAGAATTCACCTGGAGGTGTGAAGTTTCCCCAAATACCTCACCTGCAGGCTGGCTGAATCCTGAAATTTCACTTAGAACCTCATCCCTCTGCTTAAGCTTTTGCTCCCAAGGGCCCTCATGATTCCTGGGAATTAATAGATTCTACACATTTCTTAAGTACCTTGGCTATCTGGAGCAATTGGACAATGTGTCCCTGAACCATGTAAAAGGCCTTGGGCCCTCAGGGACAGCCTCACTGCCAACCACTGTGCCCAAGCCTCAGGCAATGGTAGTCTGAGGCAAGGCACTCAGGGGCTCTTCTGGTGGCCCCCCTCTTTTACTCCACTTCCAAGGGGCTGAAAACTGCTCCAGAGTATCCCTGAATTCTCCCTCCATCTGGCCATCTTTCCTGTTTAGTGAATTTGGGGGCTCACTGGAGCCCTGAACTAATTTAAAGTAGAGCCAGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAAATCAAGAGGTCAGGAGATCAAGACCATCACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTAGTGGGTGCCTGTATTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCGTGAACCTGGGAGACAGAGCTTGCAGTGAGCTGAGATTACGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAACAAAACAAAAAAAAAAGTAAGTAGAAAGAGGGGCCCGGGCGCGGTGGCTCACGCCTGGTAATCCCAACACTGTGGGAGGCCGAGGCGGGAGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACTTGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCGGGTCGTAGTGGCATGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTAAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCCTGCCATTGCACTCCAGCCTGGGCAATAAGAGCAAGACATCATCTCAAAAAAAAAGTAGAATGAGGGATGCCAACTTAATCTTGTATCTGTTTAGTGAGCTTCCAGCTTCATGAGCATGTCTCGTAAGAAGCAGGGATTGTGATCTGGTATCTACCCTACTGCCCCAACTAACTCTCTTGGTCATCTCTCTTTTGACTTATTCATTCACCAAAAACATTTTTTGAGGGCCTACATGTATGAAGCCCTGGAGCTACAAAAGCATATAAACCAGATAGCCAGATTTCCCACCTTCAAAGAATTTATCTCTTTTCTACACAAAAGTACCTAACAGTTTAGTATCACAGTACATTTTAGTGTTCATCTATTCTTTCCTGTTCTTTCCTGTTTCCCCCAACCCCTGTTTGCACACCCTCTCTCCTCGATACAAAAATCAAATCCACA
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Task1_train_3135
|
This sequence change occurs on Chromosome 2, altering MATN3 (matrilin 3). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Multiple epiphyseal dysplasia type 5
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AATACAAACAGGTAAAAAGAAAAGAACAAAATAAATGAGATTACATTAGCTAAACTACATCTCCATCTTATTGCTCCTGGAGCCATTTATATCTCATTGGATATTTTTTTCCTAGTGACCTCTTTTGAAAGATGAATCAATGAATTAAGTCATTTCTGAGAAACCAAGGAGGCCTGTTGAAGGAGGCTGGCCCTCCTGTGGCAGGTAACCCAACCTCCACTGCCCTTGGCAACAGGACAAGGCTAATATTTTCCCAAGAAGGGCCTTTTCATGGAATGATCTTTCCAACCCGTTGACTACAACAAGCTGCCGCTCAGTCTTTTTTCCATAGAGAGGACGTTTTTCCCCCAGAACAAGCAGGTCTTTTGTACCAGAAGGAAAAGATTGCCACTCACCACTTGTTACTTTATAGCCTTCGAAGCCCAACCCCAGGTGCTAGCTTTGAAACCCAACTTTGCCACAGACCAGCATGTTGATGGAGAGGCTCTCACCCACAAGCATGGAGTGGGAGGGTGATTTCCTGGGAGAAAGAAAGCCACTTTCTTTTTGGAAGCCAACGAATGCCAAGTAGATGCCACCAAAGCCAGTGATGGCTTGTGAAAGCCCAGTGTCCTGGGACAGGAAAGACAAGGGGATCCCAGCCAAGTCTGACTGCAATGAGGCCAAACGTTGCCCCAGAGCAAGACTTCATCTCCCTTTTCCTGACAAACCATTGATGGCTGCGTTTCACATTAACCTAGATTAAAAGTCTCCTTGAAATGTATAATTGTAATTAATTATTGGTTCATTTGTTTGTCTCACCCCCACCCCCAGAATGTTACTTAATGGTATGGAGGGATTACCTTTATCTTTGTATCATCAGAGATCAATAAATGCATGCTGAATAAATAAGTGTGAAATAAATTATATTGCAAAAAGATATCTATGTTTAAAAATTCACCTGAACTAGAAATTTGTCCACAACTGCTTGGATATTCACATAGAGGGAACAAAAGATTATCTCCAGATGATAAAAAAATAAAGCATGAGTCCCACAGATCATAATTCTGATCAGTGACTAAAATTAAACTCCAGCATTGAATGGATCTGTAGTCCTAGATTTGGTCAATTCATGCTAAAAATTCCAATAAAATTAGCATGTCCTTATTCAAATTCCATCCTAAAGGATGGAAGGAGTAGCAGAGTTAACAGAATGATTTCTTAAGATCATCTTGCTTTCTTTCAAGTGAGCTGAAACCCTAATCTGCCTGGTCCCTGAATCCTGTTCTTCAACAAAGAGTAATCAGATAAACAGCCCAGTCTGAAAACCAGAGCATTCACTAAATGCACACTCGGGCTGACGGTGACATTGGAATAGAGGCCTGCTGACTCTCCCAAGGACAGACGCTTCTCCCTGTCTTCTGCAGGAGAACAAACAGAGTTCTGTTAGATCTAGAGATGGTAAAACTAAAAAAATATGTATCAGGGGAAAAAAATGTAGTGGTGGGGCAGAGGGGACAGGAGAGGCATCTTGAGTTTTGTTTTTCCTGACCCTGACAGGGAACAGCAGGGTCATTTATCCTGGATATTTGCAGACCTTCACAGTTCTAACGCAAACATGAAGATTTTATGAGCAAACCAAGTTCCATATAATGCAGCTCTATATTCCTAAACCAATAGAGTGTGTTTAGGTTGGTCGCACACACGCGCGCATGCACACGTGCACACACACACACGCATTGGATATATTTAAGTTTTTCATTAAATTTCCACCAAAAAAGAATAATACTCTTTTCTCTGGGTACACAATGTCTGAATATAACATCCTTTCTAGTTGGAAGCAAAGACTGACCAACTTACCACAGAAGGTTTCCTGGAATCTAGAGGAAAGTTTCTCAATGACCCCATAGGTCTCCACGTAGAAAACATGCTCCTCTAGGGGCTCACTGGCCATCATCTTGAGGGACGCCATGTCTGCCCGGTCCACGCCCACAGCATAGAGCTCAATACCAGATGCTTGGGCCCGAGCCGCCACCTCATTCACCTGGTCCTGGGGCCTCCCATCTGTAACAATGATGGCCACCTTAGGGATGTTAGAAGAGGGCTCTCGAGCCCCTGCCTCCACTGTGAAGGCTTCGTCCATTGCTGTCTGGATGGCTAGGCCTGACATGGTGCCTGTTGACAAGGGTGTGATTCGACCCACGGCCTGCTTCAGGGACTGCTTATCTGTGTAGGCCTGGAGTTGGAACTCGATCTTCACAGTGCTAGCATAGTTCACCACTGCCACCCGCGTGTCGGCTGGCCCAATGTCCAGAGTGTCGATTATCCGGGAGACAAAAGTTTTCACTTTGGTGAATTCCAGGGGCCGTACGCTACGAGAACTATCAATGATAAACACCAGGTCCAAGGGTCTGCTCTTGCAAACACCTGCAAAAGACCAAGCAATGATCAGACCACAATTAGAAATGCAGTAATCCTCACTTCCAGAGAACTCTGGGATTCCAGGAGGCCAGGCAAGGCAGCATCTCCTGACCCCAACATCACCACTGCCTGCGACCTTCCCCAAGACCATCGGGGTGTTGAAAGCACCAAGGACTTCAGAATTCCCTAGTGAGAATTCACCTGGAGGTGTGAAGTTTCCCCAAATACCTCACCTGCAGGCTGGCTGAATCCTGAAATTTCACTTAGAACCTCATCCCTCTGCTTAAGCTTTTGCTCCCAAGGGCCCTCATGATTCCTGGGAATTAATAGATTCTACACATTTCTTAAGTACCTTGGCTATCTGGAGCAATTGGACAATGTGTCCCTGAACCATGTAAAAGGCCTTGGGCCCTCAGGGACAGCCTCACTGCCAACCACTGTGCCCAAGCCTCAGGCAATGGTAGTCTGAGGCAAGGCACTCAGGGGCTCTTCTGGTGGCCCCCCTCTTTTACTCCACTTCCAAGGGGCTGAAAACTGCTCCAGAGTATCCCTGAATTCTCCCTCCATCTGGCCATCTTTCCTGTTTAGTGAATTTGGGGGCTCACTGGAGCCCTGAACTAATTTAAAGTAGAGCCAGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAAATCAAGAGGTCAGGAGATCAAGACCATCACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTAGTGGGTGCCTGTATTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCGTGAACCTGGGAGACAGAGCTTGCAGTGAGCTGAGATTACGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAACAAAACAAAAAAAAAAGTAAGTAGAAAGAGGGGCCCGGGCGCGGTGGCTCACGCCTGGTAATCCCAACACTGTGGGAGGCCGAGGCGGGAGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACTTGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCGGGTCGTAGTGGCATGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTAAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCCTGCCATTGCACTCCAGCCTGGGCAATAAGAGCAAGACATCATCTCAAAAAAAAAGTAGAATGAGGGATGCCAACTTAATCTTGTATCTGTTTAGTGAGCTTCCAGCTTCATGAGCATGTCTCGTAAGAAGCAGGGATTGTGATCTGGTATCTACCCTACTGCCCCAACTAACTCTCTTGGTCATCTCTCTTTTGACTTATTCATTCACCAAAAACATTTTTTGAGGGCCTACATGTATGAAGCCCTGGAGCTACAAAAGCATATAAACCAGATAGCCAGATTTCCCACCTTCAAAGAATTTATCTCTTTTCTACACAAAAGTACCTAACAGTTTAGTATCACAGTACATTTTAGTGTTCATCTATTCTTTCCTGTTCTTTCCTGTTTCCCCCAACCCCTGTTTGCACACCCTCTCTCCTCGATACAAAAATCAAATCCACAAGTCAGGATGAGACAAGAAAAAAAGCCAATTATTAAACTTCTTTTTCTTTTTTTTGAGACGGAGTCTCATTCTGT
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AATACAAACAGGTAAAAAGAAAAGAACAAAATAAATGAGATTACATTAGCTAAACTACATCTCCATCTTATTGCTCCTGGAGCCATTTATATCTCATTGGATATTTTTTTCCTAGTGACCTCTTTTGAAAGATGAATCAATGAATTAAGTCATTTCTGAGAAACCAAGGAGGCCTGTTGAAGGAGGCTGGCCCTCCTGTGGCAGGTAACCCAACCTCCACTGCCCTTGGCAACAGGACAAGGCTAATATTTTCCCAAGAAGGGCCTTTTCATGGAATGATCTTTCCAACCCGTTGACTACAACAAGCTGCCGCTCAGTCTTTTTTCCATAGAGAGGACGTTTTTCCCCCAGAACAAGCAGGTCTTTTGTACCAGAAGGAAAAGATTGCCACTCACCACTTGTTACTTTATAGCCTTCGAAGCCCAACCCCAGGTGCTAGCTTTGAAACCCAACTTTGCCACAGACCAGCATGTTGATGGAGAGGCTCTCACCCACAAGCATGGAGTGGGAGGGTGATTTCCTGGGAGAAAGAAAGCCACTTTCTTTTTGGAAGCCAACGAATGCCAAGTAGATGCCACCAAAGCCAGTGATGGCTTGTGAAAGCCCAGTGTCCTGGGACAGGAAAGACAAGGGGATCCCAGCCAAGTCTGACTGCAATGAGGCCAAACGTTGCCCCAGAGCAAGACTTCATCTCCCTTTTCCTGACAAACCATTGATGGCTGCGTTTCACATTAACCTAGATTAAAAGTCTCCTTGAAATGTATAATTGTAATTAATTATTGGTTCATTTGTTTGTCTCACCCCCACCCCCAGAATGTTACTTAATGGTATGGAGGGATTACCTTTATCTTTGTATCATCAGAGATCAATAAATGCATGCTGAATAAATAAGTGTGAAATAAATTATATTGCAAAAAGATATCTATGTTTAAAAATTCACCTGAACTAGAAATTTGTCCACAACTGCTTGGATATTCACATAGAGGGAACAAAAGATTATCTCCAGATGATAAAAAAATAAAGCATGAGTCCCACAGATCATAATTCTGATCAGTGACTAAAATTAAACTCCAGCATTGAATGGATCTGTAGTCCTAGATTTGGTCAATTCATGCTAAAAATTCCAATAAAATTAGCATGTCCTTATTCAAATTCCATCCTAAAGGATGGAAGGAGTAGCAGAGTTAACAGAATGATTTCTTAAGATCATCTTGCTTTCTTTCAAGTGAGCTGAAACCCTAATCTGCCTGGTCCCTGAATCCTGTTCTTCAACAAAGAGTAATCAGATAAACAGCCCAGTCTGAAAACCAGAGCATTCACTAAATGCACACTCGGGCTGACGGTGACATTGGAATAGAGGCCTGCTGACTCTCCCAAGGACAGACGCTTCTCCCTGTCTTCTGCAGGAGAACAAACAGAGTTCTGTTAGATCTAGAGATGGTAAAACTAAAAAAATATGTATCAGGGGAAAAAAATGTAGTGGTGGGGCAGAGGGGACAGGAGAGGCATCTTGAGTTTTGTTTTTCCTGACCCTGACAGGGAACAGCAGGGTCATTTATCCTGGATATTTGCAGACCTTCACAGTTCTAACGCAAACATGAAGATTTTATGAGCAAACCAAGTTCCATATAATGCAGCTCTATATTCCTAAACCAATAGAGTGTGTTTAGGTTGGTCGCACACACGCGCGCATGCACACGTGCACACACACACACGCATTGGATATATTTAAGTTTTTCATTAAATTTCCACCAAAAAAGAATAATACTCTTTTCTCTGGGTACACAATGTCTGAATATAACATCCTTTCTAGTTGGAAGCAAAGACTGACCAACTTACCACAGAAGGTTTCCTGGAATCTAGAGGAAAGTTTCTCAATGACCCCATAGGTCTCCACGTAGAAAACATGCTCCTCTAGGGGCTCACTGGCCATCATCTTGAGGGACGCCATGTCTGCCCGGTCCACGCCCACAGCATAGAGCTCAATACCAGATGCTTGGGCCCGAGCCGCCACCTCATTCACCTGGTCCTGGGGCCTCCCATCTGTATCAATGATGGCCACCTTAGGGATGTTAGAAGAGGGCTCTCGAGCCCCTGCCTCCACTGTGAAGGCTTCGTCCATTGCTGTCTGGATGGCTAGGCCTGACATGGTGCCTGTTGACAAGGGTGTGATTCGACCCACGGCCTGCTTCAGGGACTGCTTATCTGTGTAGGCCTGGAGTTGGAACTCGATCTTCACAGTGCTAGCATAGTTCACCACTGCCACCCGCGTGTCGGCTGGCCCAATGTCCAGAGTGTCGATTATCCGGGAGACAAAAGTTTTCACTTTGGTGAATTCCAGGGGCCGTACGCTACGAGAACTATCAATGATAAACACCAGGTCCAAGGGTCTGCTCTTGCAAACACCTGCAAAAGACCAAGCAATGATCAGACCACAATTAGAAATGCAGTAATCCTCACTTCCAGAGAACTCTGGGATTCCAGGAGGCCAGGCAAGGCAGCATCTCCTGACCCCAACATCACCACTGCCTGCGACCTTCCCCAAGACCATCGGGGTGTTGAAAGCACCAAGGACTTCAGAATTCCCTAGTGAGAATTCACCTGGAGGTGTGAAGTTTCCCCAAATACCTCACCTGCAGGCTGGCTGAATCCTGAAATTTCACTTAGAACCTCATCCCTCTGCTTAAGCTTTTGCTCCCAAGGGCCCTCATGATTCCTGGGAATTAATAGATTCTACACATTTCTTAAGTACCTTGGCTATCTGGAGCAATTGGACAATGTGTCCCTGAACCATGTAAAAGGCCTTGGGCCCTCAGGGACAGCCTCACTGCCAACCACTGTGCCCAAGCCTCAGGCAATGGTAGTCTGAGGCAAGGCACTCAGGGGCTCTTCTGGTGGCCCCCCTCTTTTACTCCACTTCCAAGGGGCTGAAAACTGCTCCAGAGTATCCCTGAATTCTCCCTCCATCTGGCCATCTTTCCTGTTTAGTGAATTTGGGGGCTCACTGGAGCCCTGAACTAATTTAAAGTAGAGCCAGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAAATCAAGAGGTCAGGAGATCAAGACCATCACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTAGTGGGTGCCTGTATTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCGTGAACCTGGGAGACAGAGCTTGCAGTGAGCTGAGATTACGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAACAAAACAAAAAAAAAAGTAAGTAGAAAGAGGGGCCCGGGCGCGGTGGCTCACGCCTGGTAATCCCAACACTGTGGGAGGCCGAGGCGGGAGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACTTGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCGGGTCGTAGTGGCATGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTAAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCCTGCCATTGCACTCCAGCCTGGGCAATAAGAGCAAGACATCATCTCAAAAAAAAAGTAGAATGAGGGATGCCAACTTAATCTTGTATCTGTTTAGTGAGCTTCCAGCTTCATGAGCATGTCTCGTAAGAAGCAGGGATTGTGATCTGGTATCTACCCTACTGCCCCAACTAACTCTCTTGGTCATCTCTCTTTTGACTTATTCATTCACCAAAAACATTTTTTGAGGGCCTACATGTATGAAGCCCTGGAGCTACAAAAGCATATAAACCAGATAGCCAGATTTCCCACCTTCAAAGAATTTATCTCTTTTCTACACAAAAGTACCTAACAGTTTAGTATCACAGTACATTTTAGTGTTCATCTATTCTTTCCTGTTCTTTCCTGTTTCCCCCAACCCCTGTTTGCACACCCTCTCTCCTCGATACAAAAATCAAATCCACAAGTCAGGATGAGACAAGAAAAAAAGCCAATTATTAAACTTCTTTTTCTTTTTTTTGAGACGGAGTCTCATTCTGT
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Task1_train_3136
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Here’s a variant in MATN3 (matrilin 3) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Multiple epiphyseal dysplasia type 5
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GGCAGGTAACCCAACCTCCACTGCCCTTGGCAACAGGACAAGGCTAATATTTTCCCAAGAAGGGCCTTTTCATGGAATGATCTTTCCAACCCGTTGACTACAACAAGCTGCCGCTCAGTCTTTTTTCCATAGAGAGGACGTTTTTCCCCCAGAACAAGCAGGTCTTTTGTACCAGAAGGAAAAGATTGCCACTCACCACTTGTTACTTTATAGCCTTCGAAGCCCAACCCCAGGTGCTAGCTTTGAAACCCAACTTTGCCACAGACCAGCATGTTGATGGAGAGGCTCTCACCCACAAGCATGGAGTGGGAGGGTGATTTCCTGGGAGAAAGAAAGCCACTTTCTTTTTGGAAGCCAACGAATGCCAAGTAGATGCCACCAAAGCCAGTGATGGCTTGTGAAAGCCCAGTGTCCTGGGACAGGAAAGACAAGGGGATCCCAGCCAAGTCTGACTGCAATGAGGCCAAACGTTGCCCCAGAGCAAGACTTCATCTCCCTTTTCCTGACAAACCATTGATGGCTGCGTTTCACATTAACCTAGATTAAAAGTCTCCTTGAAATGTATAATTGTAATTAATTATTGGTTCATTTGTTTGTCTCACCCCCACCCCCAGAATGTTACTTAATGGTATGGAGGGATTACCTTTATCTTTGTATCATCAGAGATCAATAAATGCATGCTGAATAAATAAGTGTGAAATAAATTATATTGCAAAAAGATATCTATGTTTAAAAATTCACCTGAACTAGAAATTTGTCCACAACTGCTTGGATATTCACATAGAGGGAACAAAAGATTATCTCCAGATGATAAAAAAATAAAGCATGAGTCCCACAGATCATAATTCTGATCAGTGACTAAAATTAAACTCCAGCATTGAATGGATCTGTAGTCCTAGATTTGGTCAATTCATGCTAAAAATTCCAATAAAATTAGCATGTCCTTATTCAAATTCCATCCTAAAGGATGGAAGGAGTAGCAGAGTTAACAGAATGATTTCTTAAGATCATCTTGCTTTCTTTCAAGTGAGCTGAAACCCTAATCTGCCTGGTCCCTGAATCCTGTTCTTCAACAAAGAGTAATCAGATAAACAGCCCAGTCTGAAAACCAGAGCATTCACTAAATGCACACTCGGGCTGACGGTGACATTGGAATAGAGGCCTGCTGACTCTCCCAAGGACAGACGCTTCTCCCTGTCTTCTGCAGGAGAACAAACAGAGTTCTGTTAGATCTAGAGATGGTAAAACTAAAAAAATATGTATCAGGGGAAAAAAATGTAGTGGTGGGGCAGAGGGGACAGGAGAGGCATCTTGAGTTTTGTTTTTCCTGACCCTGACAGGGAACAGCAGGGTCATTTATCCTGGATATTTGCAGACCTTCACAGTTCTAACGCAAACATGAAGATTTTATGAGCAAACCAAGTTCCATATAATGCAGCTCTATATTCCTAAACCAATAGAGTGTGTTTAGGTTGGTCGCACACACGCGCGCATGCACACGTGCACACACACACACGCATTGGATATATTTAAGTTTTTCATTAAATTTCCACCAAAAAAGAATAATACTCTTTTCTCTGGGTACACAATGTCTGAATATAACATCCTTTCTAGTTGGAAGCAAAGACTGACCAACTTACCACAGAAGGTTTCCTGGAATCTAGAGGAAAGTTTCTCAATGACCCCATAGGTCTCCACGTAGAAAACATGCTCCTCTAGGGGCTCACTGGCCATCATCTTGAGGGACGCCATGTCTGCCCGGTCCACGCCCACAGCATAGAGCTCAATACCAGATGCTTGGGCCCGAGCCGCCACCTCATTCACCTGGTCCTGGGGCCTCCCATCTGTAACAATGATGGCCACCTTAGGGATGTTAGAAGAGGGCTCTCGAGCCCCTGCCTCCACTGTGAAGGCTTCGTCCATTGCTGTCTGGATGGCTAGGCCTGACATGGTGCCTGTTGACAAGGGTGTGATTCGACCCACGGCCTGCTTCAGGGACTGCTTATCTGTGTAGGCCTGGAGTTGGAACTCGATCTTCACAGTGCTAGCATAGTTCACCACTGCCACCCGCGTGTCGGCTGGCCCAATGTCCAGAGTGTCGATTATCCGGGAGACAAAAGTTTTCACTTTGGTGAATTCCAGGGGCCGTACGCTACGAGAACTATCAATGATAAACACCAGGTCCAAGGGTCTGCTCTTGCAAACACCTGCAAAAGACCAAGCAATGATCAGACCACAATTAGAAATGCAGTAATCCTCACTTCCAGAGAACTCTGGGATTCCAGGAGGCCAGGCAAGGCAGCATCTCCTGACCCCAACATCACCACTGCCTGCGACCTTCCCCAAGACCATCGGGGTGTTGAAAGCACCAAGGACTTCAGAATTCCCTAGTGAGAATTCACCTGGAGGTGTGAAGTTTCCCCAAATACCTCACCTGCAGGCTGGCTGAATCCTGAAATTTCACTTAGAACCTCATCCCTCTGCTTAAGCTTTTGCTCCCAAGGGCCCTCATGATTCCTGGGAATTAATAGATTCTACACATTTCTTAAGTACCTTGGCTATCTGGAGCAATTGGACAATGTGTCCCTGAACCATGTAAAAGGCCTTGGGCCCTCAGGGACAGCCTCACTGCCAACCACTGTGCCCAAGCCTCAGGCAATGGTAGTCTGAGGCAAGGCACTCAGGGGCTCTTCTGGTGGCCCCCCTCTTTTACTCCACTTCCAAGGGGCTGAAAACTGCTCCAGAGTATCCCTGAATTCTCCCTCCATCTGGCCATCTTTCCTGTTTAGTGAATTTGGGGGCTCACTGGAGCCCTGAACTAATTTAAAGTAGAGCCAGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAAATCAAGAGGTCAGGAGATCAAGACCATCACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTAGTGGGTGCCTGTATTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCGTGAACCTGGGAGACAGAGCTTGCAGTGAGCTGAGATTACGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAACAAAACAAAAAAAAAAGTAAGTAGAAAGAGGGGCCCGGGCGCGGTGGCTCACGCCTGGTAATCCCAACACTGTGGGAGGCCGAGGCGGGAGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACTTGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCGGGTCGTAGTGGCATGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTAAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCCTGCCATTGCACTCCAGCCTGGGCAATAAGAGCAAGACATCATCTCAAAAAAAAAGTAGAATGAGGGATGCCAACTTAATCTTGTATCTGTTTAGTGAGCTTCCAGCTTCATGAGCATGTCTCGTAAGAAGCAGGGATTGTGATCTGGTATCTACCCTACTGCCCCAACTAACTCTCTTGGTCATCTCTCTTTTGACTTATTCATTCACCAAAAACATTTTTTGAGGGCCTACATGTATGAAGCCCTGGAGCTACAAAAGCATATAAACCAGATAGCCAGATTTCCCACCTTCAAAGAATTTATCTCTTTTCTACACAAAAGTACCTAACAGTTTAGTATCACAGTACATTTTAGTGTTCATCTATTCTTTCCTGTTCTTTCCTGTTTCCCCCAACCCCTGTTTGCACACCCTCTCTCCTCGATACAAAAATCAAATCCACAAGTCAGGATGAGACAAGAAAAAAAGCCAATTATTAAACTTCTTTTTCTTTTTTTTGAGACGGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCAATCTTGGCTCACTGCAACCACCACCTCCTGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGTGCGCCACCACACCCAGCTAATTTTTGTATTTTTCATAGAGACGGGGTTTCACTATGTTGGCCAGGCTGGGCTCAAACTCCCAACCTCAGG
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GGCAGGTAACCCAACCTCCACTGCCCTTGGCAACAGGACAAGGCTAATATTTTCCCAAGAAGGGCCTTTTCATGGAATGATCTTTCCAACCCGTTGACTACAACAAGCTGCCGCTCAGTCTTTTTTCCATAGAGAGGACGTTTTTCCCCCAGAACAAGCAGGTCTTTTGTACCAGAAGGAAAAGATTGCCACTCACCACTTGTTACTTTATAGCCTTCGAAGCCCAACCCCAGGTGCTAGCTTTGAAACCCAACTTTGCCACAGACCAGCATGTTGATGGAGAGGCTCTCACCCACAAGCATGGAGTGGGAGGGTGATTTCCTGGGAGAAAGAAAGCCACTTTCTTTTTGGAAGCCAACGAATGCCAAGTAGATGCCACCAAAGCCAGTGATGGCTTGTGAAAGCCCAGTGTCCTGGGACAGGAAAGACAAGGGGATCCCAGCCAAGTCTGACTGCAATGAGGCCAAACGTTGCCCCAGAGCAAGACTTCATCTCCCTTTTCCTGACAAACCATTGATGGCTGCGTTTCACATTAACCTAGATTAAAAGTCTCCTTGAAATGTATAATTGTAATTAATTATTGGTTCATTTGTTTGTCTCACCCCCACCCCCAGAATGTTACTTAATGGTATGGAGGGATTACCTTTATCTTTGTATCATCAGAGATCAATAAATGCATGCTGAATAAATAAGTGTGAAATAAATTATATTGCAAAAAGATATCTATGTTTAAAAATTCACCTGAACTAGAAATTTGTCCACAACTGCTTGGATATTCACATAGAGGGAACAAAAGATTATCTCCAGATGATAAAAAAATAAAGCATGAGTCCCACAGATCATAATTCTGATCAGTGACTAAAATTAAACTCCAGCATTGAATGGATCTGTAGTCCTAGATTTGGTCAATTCATGCTAAAAATTCCAATAAAATTAGCATGTCCTTATTCAAATTCCATCCTAAAGGATGGAAGGAGTAGCAGAGTTAACAGAATGATTTCTTAAGATCATCTTGCTTTCTTTCAAGTGAGCTGAAACCCTAATCTGCCTGGTCCCTGAATCCTGTTCTTCAACAAAGAGTAATCAGATAAACAGCCCAGTCTGAAAACCAGAGCATTCACTAAATGCACACTCGGGCTGACGGTGACATTGGAATAGAGGCCTGCTGACTCTCCCAAGGACAGACGCTTCTCCCTGTCTTCTGCAGGAGAACAAACAGAGTTCTGTTAGATCTAGAGATGGTAAAACTAAAAAAATATGTATCAGGGGAAAAAAATGTAGTGGTGGGGCAGAGGGGACAGGAGAGGCATCTTGAGTTTTGTTTTTCCTGACCCTGACAGGGAACAGCAGGGTCATTTATCCTGGATATTTGCAGACCTTCACAGTTCTAACGCAAACATGAAGATTTTATGAGCAAACCAAGTTCCATATAATGCAGCTCTATATTCCTAAACCAATAGAGTGTGTTTAGGTTGGTCGCACACACGCGCGCATGCACACGTGCACACACACACACGCATTGGATATATTTAAGTTTTTCATTAAATTTCCACCAAAAAAGAATAATACTCTTTTCTCTGGGTACACAATGTCTGAATATAACATCCTTTCTAGTTGGAAGCAAAGACTGACCAACTTACCACAGAAGGTTTCCTGGAATCTAGAGGAAAGTTTCTCAATGACCCCATAGGTCTCCACGTAGAAAACATGCTCCTCTAGGGGCTCACTGGCCATCATCTTGAGGGACGCCATGTCTGCCCGGTCCACGCCCACAGCATAGAGCTCAATACCAGATGCTTGGGCCCGAGCCGCCACCTCATTCACCTGGTCCTGGGGCCTCCCATCTGTAACAATGATGGCCACCTTAGGGATGTTAGAAGAGGGCTCTCGAGCCCCTGCCTCCACTGTGAAGGCTTCGTCCATTGCTGTCTGGATGGCTAGGCCTGACATGGTGCCTGTTGACAAGGGTGTGATTCGACCCACGGCCTGCTTCAGGGACTGCTTATCTGTGTAGGCCTGGAGTTGGAACTCGATCTTCACAGTGCTAGGATAGTTCACCACTGCCACCCGCGTGTCGGCTGGCCCAATGTCCAGAGTGTCGATTATCCGGGAGACAAAAGTTTTCACTTTGGTGAATTCCAGGGGCCGTACGCTACGAGAACTATCAATGATAAACACCAGGTCCAAGGGTCTGCTCTTGCAAACACCTGCAAAAGACCAAGCAATGATCAGACCACAATTAGAAATGCAGTAATCCTCACTTCCAGAGAACTCTGGGATTCCAGGAGGCCAGGCAAGGCAGCATCTCCTGACCCCAACATCACCACTGCCTGCGACCTTCCCCAAGACCATCGGGGTGTTGAAAGCACCAAGGACTTCAGAATTCCCTAGTGAGAATTCACCTGGAGGTGTGAAGTTTCCCCAAATACCTCACCTGCAGGCTGGCTGAATCCTGAAATTTCACTTAGAACCTCATCCCTCTGCTTAAGCTTTTGCTCCCAAGGGCCCTCATGATTCCTGGGAATTAATAGATTCTACACATTTCTTAAGTACCTTGGCTATCTGGAGCAATTGGACAATGTGTCCCTGAACCATGTAAAAGGCCTTGGGCCCTCAGGGACAGCCTCACTGCCAACCACTGTGCCCAAGCCTCAGGCAATGGTAGTCTGAGGCAAGGCACTCAGGGGCTCTTCTGGTGGCCCCCCTCTTTTACTCCACTTCCAAGGGGCTGAAAACTGCTCCAGAGTATCCCTGAATTCTCCCTCCATCTGGCCATCTTTCCTGTTTAGTGAATTTGGGGGCTCACTGGAGCCCTGAACTAATTTAAAGTAGAGCCAGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAAATCAAGAGGTCAGGAGATCAAGACCATCACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTAGTGGGTGCCTGTATTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCGTGAACCTGGGAGACAGAGCTTGCAGTGAGCTGAGATTACGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAACAAAACAAAAAAAAAAGTAAGTAGAAAGAGGGGCCCGGGCGCGGTGGCTCACGCCTGGTAATCCCAACACTGTGGGAGGCCGAGGCGGGAGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACTTGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCGGGTCGTAGTGGCATGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTAAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCCTGCCATTGCACTCCAGCCTGGGCAATAAGAGCAAGACATCATCTCAAAAAAAAAGTAGAATGAGGGATGCCAACTTAATCTTGTATCTGTTTAGTGAGCTTCCAGCTTCATGAGCATGTCTCGTAAGAAGCAGGGATTGTGATCTGGTATCTACCCTACTGCCCCAACTAACTCTCTTGGTCATCTCTCTTTTGACTTATTCATTCACCAAAAACATTTTTTGAGGGCCTACATGTATGAAGCCCTGGAGCTACAAAAGCATATAAACCAGATAGCCAGATTTCCCACCTTCAAAGAATTTATCTCTTTTCTACACAAAAGTACCTAACAGTTTAGTATCACAGTACATTTTAGTGTTCATCTATTCTTTCCTGTTCTTTCCTGTTTCCCCCAACCCCTGTTTGCACACCCTCTCTCCTCGATACAAAAATCAAATCCACAAGTCAGGATGAGACAAGAAAAAAAGCCAATTATTAAACTTCTTTTTCTTTTTTTTGAGACGGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCAATCTTGGCTCACTGCAACCACCACCTCCTGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGTGCGCCACCACACCCAGCTAATTTTTGTATTTTTCATAGAGACGGGGTTTCACTATGTTGGCCAGGCTGGGCTCAAACTCCCAACCTCAGG
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Task1_train_3137
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Located on Chromosome 2, this mutation impacts APOB (apolipoprotein B). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Hypercholesterolemia, familial, 1
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CTTTCTAGAGCTCAGCTTGGAGGCTCTGACTGGATATTGCCAGTGTTTAAAATCAGAGTTTGAAGTGAGTGGATGTGGCAGGAGAAACCCTTGGGTTTTTACTACACTTGGGATTGTTGGATATTATATTTGGAAAAATAAGGATGCTTAAGAGCCTAAAGAGCATACATGTATGCTGGGTCACAGAATTGTTAGGAATCTACATCTCCACCCCTCCTCTCCCAATCATACTTTCTTGGCCTTGAATGGATCCTGGCAGAGCTCCAGGGAGACATCTGGGGTCCGTATTGCCATGAAGCCCCTGGGGCTAGGACTCCCTAGCCATTCCTTCTCCACTCCTGGCAGGCTGAGTGAAATAAAGGACTTGTTATTTCATCTCGAGGCCTACCGGAGAGCCTTGCCTTGCAAAGGCAGACAGTCAGTGAGGAAGACTATGTGGCACATGAAGACACCAGAGGTGTTCCTCAGGATCAAAGTATGTACAAGCCTTTGTGAATATTTTTTCCTTCTCACTTGGCAAATACAATTCCTGAGATCAATAACCTCGTCTTTTTAATTTTTTCCTCGTCTTTTTAACTATTTATAAAATATTGAATTATAAAATATGTAATTATAAATACTTTAATTATAAAATATGTAATTATAAATACTTTAATTATAAAATATGTAATTATAAATACTTTATAAAATATGTAATTATAAAATATGTAATTATAAACATTTTAATTATAAAATATGTAATTATAAACATTTTAATTATAAAATATGTAATTATAAACATTTTAATTATAAAATATGTAATTATAAACATTTTAATTATAAAATATGTAATTATAAACATTTTAATTATAAAATATTTAATTATAAACATTTTAATTATAAAATATTTAATTATAAATATTTTAATTATAAAATATTTAATTATAAATATTTTAATTATAAAATATTTAATTATAAATATTTTAATTATAAAATATTTAATTATAAATACTTTAATTATAAAATATTTAATTATAAATATTTTAATTATAAAATATTTAATTATAAATATTTTAATTATAAATATTTTAATTATAAAATATTTAATTATAAAAACACAATTACCTCATCTTTTTAAATATTTTTGCAAAATATTTCCCTCCATAATTTCTCCGTTTCCATTTTTATTCTGTTACTTAAATCACACTATGTGTTCTAGAGGTTTTGCTGTGCCAGAACATTTTATCAATGCCCTCGTTTCACTGTCTTTCAATACAAATGAGCCACATTCAGTGGTATGATACACAATAAAGACTCCATTTATTTGTTCCTCCTCCCCCAAGTTTAGCAAAATAACTCAGATCCTGATTTTCTTTAACTTGCAAAAAATGCCATCCTTCTGAGTTCAGAGACCTTCCGAGCCCTGGTGCCAGCTTTGGTGCAGGTCCAGTTCATATGTGCTTCTGCTTATAGTCTACTGCCTACTGCAAGGCTGGCTCACTGTATGGTTTTATCAATATAGGCAGTTTGAATTTTTTCTGTGCTATGTGAAAGTTCAATTGGAAAAGAAGAATAAATGAAGATTTCTTTTAAAAAATTAGAGGATGATAGTAAGTTCTCCTGGAGCAAGCTTCATGTAGGGGTTCATGACTGTGGTTGATTGCAGCTTTTTCAGTAACTCCGTGATGTATATCAGAAATGTGTGGTAGTTTTGAATGGACAGGTCAATCAATCTTTTGGATTCAGCAATAAATTTTTCATAGTAATCAGAGAGTTGGTCTGAAAAATCTTGCAGTTTATATCTAAACTGCTGGTGGTAATCAGAAATTATTTTCTTCGTCGCAATGGCCTGGCTTTTAATTATTTCCTGAGCAGTGGCAGAAAGCTCTGCAATCTTCTCTTTCCCTTTTCCATCTGGATCGGTAAGGATGCTAAGATATTCCTGAATATTTCTGTGCAGAAATTGCTCAACTTGACTTGAGAGTTGGGAAGTAAAGTTAGAGGCACTGACAATATATTCAGAATGGAAGTCCTTAAGAGCAACTAACAGGTTCTTGATCAGACTGACTATCTTTTCTTCAAGTTCATAATATTTCACTGTCCAGCCAACTATACTTGGATCAAAATATTCTTCACGAAGGGCCATAATGTATTGATGGATCTGCTGTAACTCTTGAGAAGCTTCCTGAAGCTCGTTTTGAATAAATTCATTGAACTTATGAAGATTAAGGCATAGGTTTTCTTTCAACAATTTAAAAACATATGGGATATAATCACTGAAGATTGTGTTGATCTCATCTTGGATATAATTAATAAGATAAGTAAATTTCATCTCTTTCAGCTGTTTAATGTTATCTTCTATTAGTTGGAAAATGAATTGTAAAAGGTCCTGAAGATTACGTAGCACCTCTGTGGTCTTGAGAGACTGAATGGCTTTAAATACCTCTTGGGCTTCTTTTGATAAATCTTTCAACAGTTCCCTATACATCGAGATTACATCTATTAGTTTATGTTTCCTTAACTCGAAAGGAAGTGTAATCACTAGGTCTTGGAAATAGGAAAACAGTATTTCTGAACCATTATGGACTTTCGAATATACCTGGGACAGTACCGTCCCTACCTCCCTTATGAACATAGTGCAAAGTTCCTCCCTAGTGTATATCCCAGGTTTCCCCGGAAACTGGAATCTGGGGAAGTTCAGAAAATCAATGAGTGAGTCAATCAGATGCTTGACTTTCATATGGAATTCTTGAGTAACTCGTACCAAGCCATCAAACACGTTATCCTTGAGTCCCTGGAAACTGGCTTGGCCTTCCTGAGTCAACAGTTCCTGGTACAGATTCTGGGCCTTGTCCTTCCACTCTTGGTAGGTCCCAGTGGTGCCACTGGCTGCTTTCTGGAACCTCACGTCGATATCATCAATTTGCCTAATGGCCCCTTGATAAACCCACTCAGCATTGTTCTGCAGATTTCTTCTCAGCTTTGAAGACACTTCTCTCAGGGTGAGCCCTGTGTGTTCCCAGTGGTACTTGTTGACATAATCATAAAGGACCCCTGTGGCCTTGGGCACGTTGTCTTTCAGAGAGGTTAGCAAGCCAGAAGCTGCCTCTTCTTCCCAATTAACTTTGATCTGAGTTTCCTCATCAGATTCCCGGACCCTCAACTCAGTTTTGAATATGGTGAGTTTTTTATCTGGAGAGGACTAAACAGAGAGAAAAAAAAAAATAACATGTTTTCAATTACTCCAATTACACAATATAGTACACTAAAACTTCATTAGCAGTTAAAAATAAAGATCAGAGAATCTTTCATATACTGAAAGGGATTTATCTTTCATATGTCAGTTCATGTGTTTGTTTTATGGTTAAATAAGTCTACTGTTGTTAATTTCTCTTTATCACATGCCCCAGAAAGGATTTAACAAAAACGCTTGCTGTTTGTCATTTACATTGTGACACTTAAAATTAAAGCCTTCCTAGGACTGAAAACTGGAAGAGGAGTGGGGGGAAGAGAAAGAAGAGGAGAGAGAAGAAGAGTCAGGAAATGACAGATAGGAAAAGAAGAAATAGCAAAAAAGGCAAGTTGGAGCCCACCCTGCAGAGACCCAGAATCCCAACATCAGTACGCATTCTCCAAGCCCATGACAAACTTTTAGTAACAGTCATAGAACCATGTTTGGTCTTCTCCTCTGGTAATGTCACCCTTGATTTGGCCCTGGCAGAGCTTGTAAATGACATGAGAGGAATTTGATGTATCTCATCTAGCAATTCTATTGTGGGGAAGAATTTTAAAGTTTTAAATACTACAGAAACCAGTCCTCTCTGAAAAATATACCCTGCCTATGGCTGAGCTTGCCTATGATTTAGATGATGAGGTATAACCCTCATCTTCCTGGATTTGCCCAGAATTAATAAATAATAGTGCTGATGGGATGTCATGTGTGCATCTAAACATTAAAATCAATCAAGGACTCATTGTAATACTTTCTAGAGAATATTTCCTCAGAGAAGAAGTTGCTTACCGCCTGTCTTTCACCTAGTTTGGGGAATCTCTGAATATTTGGTCCTGAATTAAATGTATCTGCCCCAATTCTCCACTCGCTCTTGGGGGCGTGTCA
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CTTTCTAGAGCTCAGCTTGGAGGCTCTGACTGGATATTGCCAGTGTTTAAAATCAGAGTTTGAAGTGAGTGGATGTGGCAGGAGAAACCCTTGGGTTTTTACTACACTTGGGATTGTTGGATATTATATTTGGAAAAATAAGGATGCTTAAGAGCCTAAAGAGCATACATGTATGCTGGGTCACAGAATTGTTAGGAATCTACATCTCCACCCCTCCTCTCCCAATCATACTTTCTTGGCCTTGAATGGATCCTGGCAGAGCTCCAGGGAGACATCTGGGGTCCGTATTGCCATGAAGCCCCTGGGGCTAGGACTCCCTAGCCATTCCTTCTCCACTCCTGGCAGGCTGAGTGAAATAAAGGACTTGTTATTTCATCTCGAGGCCTACCGGAGAGCCTTGCCTTGCAAAGGCAGACAGTCAGTGAGGAAGACTATGTGGCACATGAAGACACCAGAGGTGTTCCTCAGGATCAAAGTATGTACAAGCCTTTGTGAATATTTTTTCCTTCTCACTTGGCAAATACAATTCCTGAGATCAATAACCTCGTCTTTTTAATTTTTTCCTCGTCTTTTTAACTATTTATAAAATATTGAATTATAAAATATGTAATTATAAATACTTTAATTATAAAATATGTAATTATAAATACTTTAATTATAAAATATGTAATTATAAATACTTTATAAAATATGTAATTATAAAATATGTAATTATAAACATTTTAATTATAAAATATGTAATTATAAACATTTTAATTATAAAATATGTAATTATAAACATTTTAATTATAAAATATGTAATTATAAACATTTTAATTATAAAATATGTAATTATAAACATTTTAATTATAAAATATTTAATTATAAACATTTTAATTATAAAATATTTAATTATAAATATTTTAATTATAAAATATTTAATTATAAATATTTTAATTATAAAATATTTAATTATAAATATTTTAATTATAAAATATTTAATTATAAATACTTTAATTATAAAATATTTAATTATAAATATTTTAATTATAAAATATTTAATTATAAATATTTTAATTATAAATATTTTAATTATAAAATATTTAATTATAAAAACACAATTACCTCATCTTTTTAAATATTTTTGCAAAATATTTCCCTCCATAATTTCTCCGTTTCCATTTTTATTCTGTTACTTAAATCACACTATGTGTTCTAGAGGTTTTGCTGTGCCAGAACATTTTATCAATGCCCTCGTTTCACTGTCTTTCAATACAAATGAGCCACATTCAGTGGTATGATACACAATAAAGACTCCATTTATTTGTTCCTCCTCCCCCAAGTTTAGCAAAATAACTCAGATCCTGATTTTCTTTAACTTGCAAAAAATGCCATCCTTCTGAGTTCAGAGACCTTCCGAGCCCTGGTGCCAGCTTTGGTGCAGGTCCAGTTCATATGTGCTTCTGCTTATAGTCTACTGCCTACTGCAAGGCTGGCTCACTGTATGGTTTTATCAATATAGGCAGTTTGAATTTTTTCTGTGCTATGTGAAAGTTCAATTGGAAAAGAAGAATAAATGAAGATTTCTTTTAAAAAATTAGAGGATGATAGTAAGTTCTCCTGGAGCAAGCTTCATGTAGGGGTTCATGACTGTGGTTGATTGCAGCTTTTTCAGTAACTCCGTGATGTATATCAGAAATGTGTGGTAGTTTTGAATGGACAGGTCAATCAATCTTTTGGATTCAGCAATAAATTTTTCATAGTAATCAGAGAGTTGGTCTGAAAAATCTTGCAGTTTATATCTAAACTGCTGGTGGTAATCAGAAATTATTTTCTTCGTCGCAATGGCCTGGCTTTTAATTATTTCCTGAGCAGTGGCAGAAAGCTCTGCAATCTTCTCTTTCCCTTTTCCATCTGGATCGGTAAGGATGCTAAGATATTCCTGAATATTTCTGTGCAGAAATTGCTCAACTTGACTTGAGAGTTGGGAAGTAAAGTTAGAGGCACTGACAATATATTCAGAATGGAAGTCCTTAAGAGCAACTAACAGGTTCTTGATCAGACTGACTGTCTTTTCTTCAAGTTCATAATATTTCACTGTCCAGCCAACTATACTTGGATCAAAATATTCTTCACGAAGGGCCATAATGTATTGATGGATCTGCTGTAACTCTTGAGAAGCTTCCTGAAGCTCGTTTTGAATAAATTCATTGAACTTATGAAGATTAAGGCATAGGTTTTCTTTCAACAATTTAAAAACATATGGGATATAATCACTGAAGATTGTGTTGATCTCATCTTGGATATAATTAATAAGATAAGTAAATTTCATCTCTTTCAGCTGTTTAATGTTATCTTCTATTAGTTGGAAAATGAATTGTAAAAGGTCCTGAAGATTACGTAGCACCTCTGTGGTCTTGAGAGACTGAATGGCTTTAAATACCTCTTGGGCTTCTTTTGATAAATCTTTCAACAGTTCCCTATACATCGAGATTACATCTATTAGTTTATGTTTCCTTAACTCGAAAGGAAGTGTAATCACTAGGTCTTGGAAATAGGAAAACAGTATTTCTGAACCATTATGGACTTTCGAATATACCTGGGACAGTACCGTCCCTACCTCCCTTATGAACATAGTGCAAAGTTCCTCCCTAGTGTATATCCCAGGTTTCCCCGGAAACTGGAATCTGGGGAAGTTCAGAAAATCAATGAGTGAGTCAATCAGATGCTTGACTTTCATATGGAATTCTTGAGTAACTCGTACCAAGCCATCAAACACGTTATCCTTGAGTCCCTGGAAACTGGCTTGGCCTTCCTGAGTCAACAGTTCCTGGTACAGATTCTGGGCCTTGTCCTTCCACTCTTGGTAGGTCCCAGTGGTGCCACTGGCTGCTTTCTGGAACCTCACGTCGATATCATCAATTTGCCTAATGGCCCCTTGATAAACCCACTCAGCATTGTTCTGCAGATTTCTTCTCAGCTTTGAAGACACTTCTCTCAGGGTGAGCCCTGTGTGTTCCCAGTGGTACTTGTTGACATAATCATAAAGGACCCCTGTGGCCTTGGGCACGTTGTCTTTCAGAGAGGTTAGCAAGCCAGAAGCTGCCTCTTCTTCCCAATTAACTTTGATCTGAGTTTCCTCATCAGATTCCCGGACCCTCAACTCAGTTTTGAATATGGTGAGTTTTTTATCTGGAGAGGACTAAACAGAGAGAAAAAAAAAAATAACATGTTTTCAATTACTCCAATTACACAATATAGTACACTAAAACTTCATTAGCAGTTAAAAATAAAGATCAGAGAATCTTTCATATACTGAAAGGGATTTATCTTTCATATGTCAGTTCATGTGTTTGTTTTATGGTTAAATAAGTCTACTGTTGTTAATTTCTCTTTATCACATGCCCCAGAAAGGATTTAACAAAAACGCTTGCTGTTTGTCATTTACATTGTGACACTTAAAATTAAAGCCTTCCTAGGACTGAAAACTGGAAGAGGAGTGGGGGGAAGAGAAAGAAGAGGAGAGAGAAGAAGAGTCAGGAAATGACAGATAGGAAAAGAAGAAATAGCAAAAAAGGCAAGTTGGAGCCCACCCTGCAGAGACCCAGAATCCCAACATCAGTACGCATTCTCCAAGCCCATGACAAACTTTTAGTAACAGTCATAGAACCATGTTTGGTCTTCTCCTCTGGTAATGTCACCCTTGATTTGGCCCTGGCAGAGCTTGTAAATGACATGAGAGGAATTTGATGTATCTCATCTAGCAATTCTATTGTGGGGAAGAATTTTAAAGTTTTAAATACTACAGAAACCAGTCCTCTCTGAAAAATATACCCTGCCTATGGCTGAGCTTGCCTATGATTTAGATGATGAGGTATAACCCTCATCTTCCTGGATTTGCCCAGAATTAATAAATAATAGTGCTGATGGGATGTCATGTGTGCATCTAAACATTAAAATCAATCAAGGACTCATTGTAATACTTTCTAGAGAATATTTCCTCAGAGAAGAAGTTGCTTACCGCCTGTCTTTCACCTAGTTTGGGGAATCTCTGAATATTTGGTCCTGAATTAAATGTATCTGCCCCAATTCTCCACTCGCTCTTGGGGGCGTGTCA
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Task1_train_3138
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A mutation in APOB (apolipoprotein B), located on Chromosome 2, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Cardiovascular phenotype
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TGGATGTGGCAGGAGAAACCCTTGGGTTTTTACTACACTTGGGATTGTTGGATATTATATTTGGAAAAATAAGGATGCTTAAGAGCCTAAAGAGCATACATGTATGCTGGGTCACAGAATTGTTAGGAATCTACATCTCCACCCCTCCTCTCCCAATCATACTTTCTTGGCCTTGAATGGATCCTGGCAGAGCTCCAGGGAGACATCTGGGGTCCGTATTGCCATGAAGCCCCTGGGGCTAGGACTCCCTAGCCATTCCTTCTCCACTCCTGGCAGGCTGAGTGAAATAAAGGACTTGTTATTTCATCTCGAGGCCTACCGGAGAGCCTTGCCTTGCAAAGGCAGACAGTCAGTGAGGAAGACTATGTGGCACATGAAGACACCAGAGGTGTTCCTCAGGATCAAAGTATGTACAAGCCTTTGTGAATATTTTTTCCTTCTCACTTGGCAAATACAATTCCTGAGATCAATAACCTCGTCTTTTTAATTTTTTCCTCGTCTTTTTAACTATTTATAAAATATTGAATTATAAAATATGTAATTATAAATACTTTAATTATAAAATATGTAATTATAAATACTTTAATTATAAAATATGTAATTATAAATACTTTATAAAATATGTAATTATAAAATATGTAATTATAAACATTTTAATTATAAAATATGTAATTATAAACATTTTAATTATAAAATATGTAATTATAAACATTTTAATTATAAAATATGTAATTATAAACATTTTAATTATAAAATATGTAATTATAAACATTTTAATTATAAAATATTTAATTATAAACATTTTAATTATAAAATATTTAATTATAAATATTTTAATTATAAAATATTTAATTATAAATATTTTAATTATAAAATATTTAATTATAAATATTTTAATTATAAAATATTTAATTATAAATACTTTAATTATAAAATATTTAATTATAAATATTTTAATTATAAAATATTTAATTATAAATATTTTAATTATAAATATTTTAATTATAAAATATTTAATTATAAAAACACAATTACCTCATCTTTTTAAATATTTTTGCAAAATATTTCCCTCCATAATTTCTCCGTTTCCATTTTTATTCTGTTACTTAAATCACACTATGTGTTCTAGAGGTTTTGCTGTGCCAGAACATTTTATCAATGCCCTCGTTTCACTGTCTTTCAATACAAATGAGCCACATTCAGTGGTATGATACACAATAAAGACTCCATTTATTTGTTCCTCCTCCCCCAAGTTTAGCAAAATAACTCAGATCCTGATTTTCTTTAACTTGCAAAAAATGCCATCCTTCTGAGTTCAGAGACCTTCCGAGCCCTGGTGCCAGCTTTGGTGCAGGTCCAGTTCATATGTGCTTCTGCTTATAGTCTACTGCCTACTGCAAGGCTGGCTCACTGTATGGTTTTATCAATATAGGCAGTTTGAATTTTTTCTGTGCTATGTGAAAGTTCAATTGGAAAAGAAGAATAAATGAAGATTTCTTTTAAAAAATTAGAGGATGATAGTAAGTTCTCCTGGAGCAAGCTTCATGTAGGGGTTCATGACTGTGGTTGATTGCAGCTTTTTCAGTAACTCCGTGATGTATATCAGAAATGTGTGGTAGTTTTGAATGGACAGGTCAATCAATCTTTTGGATTCAGCAATAAATTTTTCATAGTAATCAGAGAGTTGGTCTGAAAAATCTTGCAGTTTATATCTAAACTGCTGGTGGTAATCAGAAATTATTTTCTTCGTCGCAATGGCCTGGCTTTTAATTATTTCCTGAGCAGTGGCAGAAAGCTCTGCAATCTTCTCTTTCCCTTTTCCATCTGGATCGGTAAGGATGCTAAGATATTCCTGAATATTTCTGTGCAGAAATTGCTCAACTTGACTTGAGAGTTGGGAAGTAAAGTTAGAGGCACTGACAATATATTCAGAATGGAAGTCCTTAAGAGCAACTAACAGGTTCTTGATCAGACTGACTATCTTTTCTTCAAGTTCATAATATTTCACTGTCCAGCCAACTATACTTGGATCAAAATATTCTTCACGAAGGGCCATAATGTATTGATGGATCTGCTGTAACTCTTGAGAAGCTTCCTGAAGCTCGTTTTGAATAAATTCATTGAACTTATGAAGATTAAGGCATAGGTTTTCTTTCAACAATTTAAAAACATATGGGATATAATCACTGAAGATTGTGTTGATCTCATCTTGGATATAATTAATAAGATAAGTAAATTTCATCTCTTTCAGCTGTTTAATGTTATCTTCTATTAGTTGGAAAATGAATTGTAAAAGGTCCTGAAGATTACGTAGCACCTCTGTGGTCTTGAGAGACTGAATGGCTTTAAATACCTCTTGGGCTTCTTTTGATAAATCTTTCAACAGTTCCCTATACATCGAGATTACATCTATTAGTTTATGTTTCCTTAACTCGAAAGGAAGTGTAATCACTAGGTCTTGGAAATAGGAAAACAGTATTTCTGAACCATTATGGACTTTCGAATATACCTGGGACAGTACCGTCCCTACCTCCCTTATGAACATAGTGCAAAGTTCCTCCCTAGTGTATATCCCAGGTTTCCCCGGAAACTGGAATCTGGGGAAGTTCAGAAAATCAATGAGTGAGTCAATCAGATGCTTGACTTTCATATGGAATTCTTGAGTAACTCGTACCAAGCCATCAAACACGTTATCCTTGAGTCCCTGGAAACTGGCTTGGCCTTCCTGAGTCAACAGTTCCTGGTACAGATTCTGGGCCTTGTCCTTCCACTCTTGGTAGGTCCCAGTGGTGCCACTGGCTGCTTTCTGGAACCTCACGTCGATATCATCAATTTGCCTAATGGCCCCTTGATAAACCCACTCAGCATTGTTCTGCAGATTTCTTCTCAGCTTTGAAGACACTTCTCTCAGGGTGAGCCCTGTGTGTTCCCAGTGGTACTTGTTGACATAATCATAAAGGACCCCTGTGGCCTTGGGCACGTTGTCTTTCAGAGAGGTTAGCAAGCCAGAAGCTGCCTCTTCTTCCCAATTAACTTTGATCTGAGTTTCCTCATCAGATTCCCGGACCCTCAACTCAGTTTTGAATATGGTGAGTTTTTTATCTGGAGAGGACTAAACAGAGAGAAAAAAAAAAATAACATGTTTTCAATTACTCCAATTACACAATATAGTACACTAAAACTTCATTAGCAGTTAAAAATAAAGATCAGAGAATCTTTCATATACTGAAAGGGATTTATCTTTCATATGTCAGTTCATGTGTTTGTTTTATGGTTAAATAAGTCTACTGTTGTTAATTTCTCTTTATCACATGCCCCAGAAAGGATTTAACAAAAACGCTTGCTGTTTGTCATTTACATTGTGACACTTAAAATTAAAGCCTTCCTAGGACTGAAAACTGGAAGAGGAGTGGGGGGAAGAGAAAGAAGAGGAGAGAGAAGAAGAGTCAGGAAATGACAGATAGGAAAAGAAGAAATAGCAAAAAAGGCAAGTTGGAGCCCACCCTGCAGAGACCCAGAATCCCAACATCAGTACGCATTCTCCAAGCCCATGACAAACTTTTAGTAACAGTCATAGAACCATGTTTGGTCTTCTCCTCTGGTAATGTCACCCTTGATTTGGCCCTGGCAGAGCTTGTAAATGACATGAGAGGAATTTGATGTATCTCATCTAGCAATTCTATTGTGGGGAAGAATTTTAAAGTTTTAAATACTACAGAAACCAGTCCTCTCTGAAAAATATACCCTGCCTATGGCTGAGCTTGCCTATGATTTAGATGATGAGGTATAACCCTCATCTTCCTGGATTTGCCCAGAATTAATAAATAATAGTGCTGATGGGATGTCATGTGTGCATCTAAACATTAAAATCAATCAAGGACTCATTGTAATACTTTCTAGAGAATATTTCCTCAGAGAAGAAGTTGCTTACCGCCTGTCTTTCACCTAGTTTGGGGAATCTCTGAATATTTGGTCCTGAATTAAATGTATCTGCCCCAATTCTCCACTCGCTCTTGGGGGCGTGTCACTCATTAGGTGGTATTTACCTGAGGGCTGTAGTAGAAGTTCCATTTAGAAAAGTCGTCATCTTCATCCA
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TGGATGTGGCAGGAGAAACCCTTGGGTTTTTACTACACTTGGGATTGTTGGATATTATATTTGGAAAAATAAGGATGCTTAAGAGCCTAAAGAGCATACATGTATGCTGGGTCACAGAATTGTTAGGAATCTACATCTCCACCCCTCCTCTCCCAATCATACTTTCTTGGCCTTGAATGGATCCTGGCAGAGCTCCAGGGAGACATCTGGGGTCCGTATTGCCATGAAGCCCCTGGGGCTAGGACTCCCTAGCCATTCCTTCTCCACTCCTGGCAGGCTGAGTGAAATAAAGGACTTGTTATTTCATCTCGAGGCCTACCGGAGAGCCTTGCCTTGCAAAGGCAGACAGTCAGTGAGGAAGACTATGTGGCACATGAAGACACCAGAGGTGTTCCTCAGGATCAAAGTATGTACAAGCCTTTGTGAATATTTTTTCCTTCTCACTTGGCAAATACAATTCCTGAGATCAATAACCTCGTCTTTTTAATTTTTTCCTCGTCTTTTTAACTATTTATAAAATATTGAATTATAAAATATGTAATTATAAATACTTTAATTATAAAATATGTAATTATAAATACTTTAATTATAAAATATGTAATTATAAATACTTTATAAAATATGTAATTATAAAATATGTAATTATAAACATTTTAATTATAAAATATGTAATTATAAACATTTTAATTATAAAATATGTAATTATAAACATTTTAATTATAAAATATGTAATTATAAACATTTTAATTATAAAATATGTAATTATAAACATTTTAATTATAAAATATTTAATTATAAACATTTTAATTATAAAATATTTAATTATAAATATTTTAATTATAAAATATTTAATTATAAATATTTTAATTATAAAATATTTAATTATAAATATTTTAATTATAAAATATTTAATTATAAATACTTTAATTATAAAATATTTAATTATAAATATTTTAATTATAAAATATTTAATTATAAATATTTTAATTATAAATATTTTAATTATAAAATATTTAATTATAAAAACACAATTACCTCATCTTTTTAAATATTTTTGCAAAATATTTCCCTCCATAATTTCTCCGTTTCCATTTTTATTCTGTTACTTAAATCACACTATGTGTTCTAGAGGTTTTGCTGTGCCAGAACATTTTATCAATGCCCTCGTTTCACTGTCTTTCAATACAAATGAGCCACATTCAGTGGTATGATACACAATAAAGACTCCATTTATTTGTTCCTCCTCCCCCAAGTTTAGCAAAATAACTCAGATCCTGATTTTCTTTAACTTGCAAAAAATGCCATCCTTCTGAGTTCAGAGACCTTCCGAGCCCTGGTGCCAGCTTTGGTGCAGGTCCAGTTCATATGTGCTTCTGCTTATAGTCTACTGCCTACTGCAAGGCTGGCTCACTGTATGGTTTTATCAATATAGGCAGTTTGAATTTTTTCTGTGCTATGTGAAAGTTCAATTGGAAAAGAAGAATAAATGAAGATTTCTTTTAAAAAATTAGAGGATGATAGTAAGTTCTCCTGGAGCAAGCTTCATGTAGGGGTTCATGACTGTGGTTGATTGCAGCTTTTTCAGTAACTCCGTGATGTATATCAGAAATGTGTGGTAGTTTTGAATGGACAGGTCAATCAATCTTTTGGATTCAGCAATAAATTTTTCATAGTAATCAGAGAGTTGGTCTGAAAAATCTTGCAGTTTATATCTAAACTGCTGGTGGTAATCAGAAATTATTTTCTTCGTCGCAATGGCCTGGCTTTTAATTATTTCCTGAGCAGTGGCAGAAAGCTCTGCAATCTTCTCTTTCCCTTTTCCATCTGGATCGGTAAGGATGCTAAGATATTCCTGAATATTTCTGTGCAGAAATTGCTCAACTTGACTTGAGAGTTGGGAAGTAAAGTTAGAGGCACTGACAATATATTCAGAATGGAAGTCCTTAAGAGCAACTAACAGGTTCTTGATCAGACTGACTATCTTTTCTTCAAGTTCATAATATTTCACTGTCCAGCCAACTATACTTGGATCAAAATATTCTTCACGAGGGGCCATAATGTATTGATGGATCTGCTGTAACTCTTGAGAAGCTTCCTGAAGCTCGTTTTGAATAAATTCATTGAACTTATGAAGATTAAGGCATAGGTTTTCTTTCAACAATTTAAAAACATATGGGATATAATCACTGAAGATTGTGTTGATCTCATCTTGGATATAATTAATAAGATAAGTAAATTTCATCTCTTTCAGCTGTTTAATGTTATCTTCTATTAGTTGGAAAATGAATTGTAAAAGGTCCTGAAGATTACGTAGCACCTCTGTGGTCTTGAGAGACTGAATGGCTTTAAATACCTCTTGGGCTTCTTTTGATAAATCTTTCAACAGTTCCCTATACATCGAGATTACATCTATTAGTTTATGTTTCCTTAACTCGAAAGGAAGTGTAATCACTAGGTCTTGGAAATAGGAAAACAGTATTTCTGAACCATTATGGACTTTCGAATATACCTGGGACAGTACCGTCCCTACCTCCCTTATGAACATAGTGCAAAGTTCCTCCCTAGTGTATATCCCAGGTTTCCCCGGAAACTGGAATCTGGGGAAGTTCAGAAAATCAATGAGTGAGTCAATCAGATGCTTGACTTTCATATGGAATTCTTGAGTAACTCGTACCAAGCCATCAAACACGTTATCCTTGAGTCCCTGGAAACTGGCTTGGCCTTCCTGAGTCAACAGTTCCTGGTACAGATTCTGGGCCTTGTCCTTCCACTCTTGGTAGGTCCCAGTGGTGCCACTGGCTGCTTTCTGGAACCTCACGTCGATATCATCAATTTGCCTAATGGCCCCTTGATAAACCCACTCAGCATTGTTCTGCAGATTTCTTCTCAGCTTTGAAGACACTTCTCTCAGGGTGAGCCCTGTGTGTTCCCAGTGGTACTTGTTGACATAATCATAAAGGACCCCTGTGGCCTTGGGCACGTTGTCTTTCAGAGAGGTTAGCAAGCCAGAAGCTGCCTCTTCTTCCCAATTAACTTTGATCTGAGTTTCCTCATCAGATTCCCGGACCCTCAACTCAGTTTTGAATATGGTGAGTTTTTTATCTGGAGAGGACTAAACAGAGAGAAAAAAAAAAATAACATGTTTTCAATTACTCCAATTACACAATATAGTACACTAAAACTTCATTAGCAGTTAAAAATAAAGATCAGAGAATCTTTCATATACTGAAAGGGATTTATCTTTCATATGTCAGTTCATGTGTTTGTTTTATGGTTAAATAAGTCTACTGTTGTTAATTTCTCTTTATCACATGCCCCAGAAAGGATTTAACAAAAACGCTTGCTGTTTGTCATTTACATTGTGACACTTAAAATTAAAGCCTTCCTAGGACTGAAAACTGGAAGAGGAGTGGGGGGAAGAGAAAGAAGAGGAGAGAGAAGAAGAGTCAGGAAATGACAGATAGGAAAAGAAGAAATAGCAAAAAAGGCAAGTTGGAGCCCACCCTGCAGAGACCCAGAATCCCAACATCAGTACGCATTCTCCAAGCCCATGACAAACTTTTAGTAACAGTCATAGAACCATGTTTGGTCTTCTCCTCTGGTAATGTCACCCTTGATTTGGCCCTGGCAGAGCTTGTAAATGACATGAGAGGAATTTGATGTATCTCATCTAGCAATTCTATTGTGGGGAAGAATTTTAAAGTTTTAAATACTACAGAAACCAGTCCTCTCTGAAAAATATACCCTGCCTATGGCTGAGCTTGCCTATGATTTAGATGATGAGGTATAACCCTCATCTTCCTGGATTTGCCCAGAATTAATAAATAATAGTGCTGATGGGATGTCATGTGTGCATCTAAACATTAAAATCAATCAAGGACTCATTGTAATACTTTCTAGAGAATATTTCCTCAGAGAAGAAGTTGCTTACCGCCTGTCTTTCACCTAGTTTGGGGAATCTCTGAATATTTGGTCCTGAATTAAATGTATCTGCCCCAATTCTCCACTCGCTCTTGGGGGCGTGTCACTCATTAGGTGGTATTTACCTGAGGGCTGTAGTAGAAGTTCCATTTAGAAAAGTCGTCATCTTCATCCA
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Task1_train_3139
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A mutation on Chromosome 2 affecting APOB (apolipoprotein B) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Hypercholesterolemia, familial, 1
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AGTGCTGATGGGATGTCATGTGTGCATCTAAACATTAAAATCAATCAAGGACTCATTGTAATACTTTCTAGAGAATATTTCCTCAGAGAAGAAGTTGCTTACCGCCTGTCTTTCACCTAGTTTGGGGAATCTCTGAATATTTGGTCCTGAATTAAATGTATCTGCCCCAATTCTCCACTCGCTCTTGGGGGCGTGTCACTCATTAGGTGGTATTTACCTGAGGGCTGTAGTAGAAGTTCCATTTAGAAAAGTCGTCATCTTCATCCATATCCATGCCCACGGTGCCTACGGCTGGGGAGGCTGCTGAGGTGGAGATGCCTTTCTTGTCTTTCTGGTAGCGCAGATGGAGATCGGTGAACGCTGGGCTTTTGATATTGAGGTGCGCTTTTCCTTCCCATTCCCTGAAAGCAGAAAAACAGATGAGCTATCACGAAAGGGGTATGGAGATGAAGAAAATCACAATGAGTTTTCAAAAGGTATAAGGTTTCAATTCAATAAAAGCTCCATACTGAAGTCCTTCATATTTGCCATCTTCTTCATATTCTGCACTGAAGTCACGGTGTGCAAATGTTCCTTTAGTCTTAGAGGCTAACGTACCATCTTCGATTTTGTGTGTTCCCAAAACTGTATAGGAGAGATTTTGTATTTTATTAGATTCATAACAGTAGGACGTTGATGTTTTCATTGTGAAAACTGGGAGAATTCTATCCTAACCAGATATTTCACTTGTGTTTAAAATATGCAATGTACAGCTCACACTTATTTTAAAATAAATAGTTAAAAGACATTGTTAGTCCTAAAATAATTACAGAAAAATCCATTTTCTTTAAAGCTGTTTGTCTTGAATGACACTAGATTTTCTACAGTTTGGTTTTTACGTGTAGGGTATACATGTATCTCTTTTCTTACTTAAAATTTTGTGACATTGAGTAATTGTACATCTACTCACAACTAAATACATAATTATTTACTCATAACTCTCATTGAAAATATACAGTATCTAGGAGAGGAGGCAGGATATTTCTTACCATTTAGTTCATATTCTAGGAACTGTACGGTTGAGCTGCATGTGGAATCCAGGACTGTTTCAACATAATCTGCTTTGTTTTTCAAACTGGCACTCCAAGTGGCATTATACACGGGAGAGTCTACCTCAAAGCGTGCAGTCAGTGCTTGAAAGGAAGGAATGACAATTCCAGCAGGTACAGAGAACTTAATGGAGGGAATCTCAATGGTCTGCTCAGGCACGATGATGGTGGGCAACTCAAAGTCTGCGATCTTGTTGGCTACTGCATTTAGATCCAAAGCAGCAATGCCATCTGAAACACTTTTTGGAAGCGTGAACTGGGACACAGTTAACTGAGATTCAGGCACGGTTATCTCAAAAAAGGGAATCAAGGAGTCTTCTGGTTGAGAATATTTTGTTAACACATCAACTTCAGGGAATTTTACCTCGGGGAGTGTTGGTAGGTTGAGGGCAAATGATGAAGTTCTCAGCTTCTTATAGATTTGTATTTCTCTGAAGTCAAGTTTGCACGATGGAACCTGAAGATCTGTAAATGGGACATGGAACGTAGGCATGACAAGAACTGAATTTAGATCATTTAGTTTCAGCCCAGGAATAATGAATTTATCAGCCAAAACTTTTACAGGGATGGAGAATGAATAGCCATTGGGGTTTTTGGTGTACACAAAGGCAGTTGAAACACGAAGATGCTGTCTCCTACCAATGCTGGTGGTTACATCCAGCTTTAGGAAATCCCATAAGCTCTTGTCATAGACTGGTAGGATGATATTTTTGAGGAACCTTAGGTGTCCTTCTAAGGATCCTGCAATGTCAAGGTGTGCCTTTTCTTGGTCATTGGAAAGCTCGACCTGGCTCTGGAAAGACCCAGAATGAATCCGGACTTCATTTTTCCATCTGATCTTCTGGTTCTTAGTGTTAGCATTCAGGGCCACTTCCTGGCCAAGGTCAGGGAAATCATGGAAGGAACTGGGCTGACTTGCATGGACCTGAACAAGAGCTGACATTTGCCATGGAGAGAGTTCCAGGGTGGCTTTGCTTGTATGTTCTCCGTTGGTGAAAAAGAGGCCCTCTAGCTGTAAGTGGTTTTTCGTACTGTGCTCCCAGAGGGAATATATGCGTTGGAGTGTGGCTTCTCCAGCAAAATTTTCTTTTACTTCAAGGTTCCAGATATCATCAATTTTGGAAGTGCCCTGCAGCTTCACTGAAGACCGTGTGCTCTTGGAATTCAAGTAAGTGTTGGCCTCACTAGCAATAGTTCCTGAATATTCCCGAGAAAGAACCGAACCCTTGACATCTCCTTTGGTAGATGACTCAATGGAAAAGTAAGAGGTGAGGCTTTCCAAGCTAAGCTTGTGGTCAACTGCTCCTTTAGCGGTAGAGTACAGCATTGAAGAATTGAAATCATACTTAAATTCCATGGAGGAAGAGACAGTAGGTTTTGACTTGGTATTTCCATTAAGTTCTTGCTTGAAATTCATTCTCAAAATTGGAATTTGGGCTTTTGTGGTTGTTGCCACTGACACTTCCATATTTTTCGTGGTTAAGCTCACAGTACTGTTATGACTACCCTCCACAAATTTGTTGCTCAGAGACAGAGCTGTGGCTAACTTCAATCCCCTTTTTCTTGTCAATCTTGTGGTGCCCTCTAATTTGTACTGCAGTGCATCAATGACAGATGAAGATGAAGAAAGGAGATGAGCAACAATATCTGACTGGTTAAAAAGTTCAGCATTGGTATTCAGTGTGATGACACTTGATTTAAAGGAGAAATCATAGGTAATATTGCCCATGGCAGGAATAAAAATATGGCTTATGGTACACAATTCCTTGAAATCTGGAAGAGAAAGCTTGAGATTTCTAGGGACATGAAGGACTGGCAGCTCTAATGATGGCAGGATTAATGTGTATGAAGGCACACGGACGTCAGAACCTAGGATGGAGAAACTAGGCATGCTGACTGCTTTTGGGAACACATAGCCGAATGCCGACATCTCTATGGTGAATGGAGACACTTCAACATTGACAACTGGAACAGTGTATCCAGGAATTTGAAAGGTCCTGGGGAGCTCGTCGTGAGATTTTTCAGCTTTGTACTTATCAAACTTAATTTTTGTTTCATTATAGGATTTGGTGACAAAATCTAATGCATTGTTTCTGTTTTTTTCAAAATGCCTGTCAAAGGATTTGATGCTCTGACTGATAAACTCACAAAGCACAGCCAAAGGATTTGTGATGGAATGCCTGTGTTTGTTTTTCTTATACTGAGCTTTTACACTTAAATCAAATGATTGCTTTGTCGTTTTCAAGAATTCCTTCAAGCCTGTTTTTTCCCATAGAGAGAAATCTTTCAGTGGAGGAGTTGTGATTATTGTGTAAGGTAGACGCATTTCAGGAATTGTTAAAGGAATGTTTAAGAAATCCAGATTTGCTTCTCCATTTATTCCTACATGGGCCTCCATAATGTTCTCGTTGTTTCCAGCAGAGAAATTTTGGTTGTACTTATACTGATTGAACCTAGCACTTACTTGCCAACTTGCTTGCTGGGCACTGGGACTCAGAAACAGTGCATAGTTATTCAGGAAGTCTATCTTCCCTGTTAACCTTAATGGAAAACGAACTTTCAAATTCCCTTCATTGTTTGTGGATGCCGTGATCTCAAATGGCTGGGCTGAAAAGAAAAGAGAATTTTTCAAAGTTCCAATAACCTTTCCATTTAAATGAGCATCATGCCTCCCAGTAAACTCTGCCTTCCCTTCTCCAAACAGTGCCATGCCTTTAGCAGTTAGAACACTGTGGCCCACATGCTGGGAATCGACTTGTGATTGAATTTCAAGTTTAGAAAAGTTGAGGGAGCCAGATTCATAAACCAAGTTTTGGTTTACTCTTAGGTGTTTGCTATTGATCTTATTGGACAGTCCAAAGGAAGTGAGGGGTCCTTCTATGGTGAAACTAATTTGTGATTCATGTGTTCCCTCATCTGAGAATCTGGGGCAGGCCCATTTCCATGACCCTTTTCCAGAAGAAGTCCATGCTATGTGGCCAGCTTTCAACAGTGTCTTGATCTCGTTG
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AGTGCTGATGGGATGTCATGTGTGCATCTAAACATTAAAATCAATCAAGGACTCATTGTAATACTTTCTAGAGAATATTTCCTCAGAGAAGAAGTTGCTTACCGCCTGTCTTTCACCTAGTTTGGGGAATCTCTGAATATTTGGTCCTGAATTAAATGTATCTGCCCCAATTCTCCACTCGCTCTTGGGGGCGTGTCACTCATTAGGTGGTATTTACCTGAGGGCTGTAGTAGAAGTTCCATTTAGAAAAGTCGTCATCTTCATCCATATCCATGCCCACGGTGCCTACGGCTGGGGAGGCTGCTGAGGTGGAGATGCCTTTCTTGTCTTTCTGGTAGCGCAGATGGAGATCGGTGAACGCTGGGCTTTTGATATTGAGGTGCGCTTTTCCTTCCCATTCCCTGAAAGCAGAAAAACAGATGAGCTATCACGAAAGGGGTATGGAGATGAAGAAAATCACAATGAGTTTTCAAAAGGTATAAGGTTTCAATTCAATAAAAGCTCCATACTGAAGTCCTTCATATTTGCCATCTTCTTCATATTCTGCACTGAAGTCACGGTGTGCAAATGTTCCTTTAGTCTTAGAGGCTAACGTACCATCTTCGATTTTGTGTGTTCCCAAAACTGTATAGGAGAGATTTTGTATTTTATTAGATTCATAACAGTAGGACGTTGATGTTTTCATTGTGAAAACTGGGAGAATTCTATCCTAACCAGATATTTCACTTGTGTTTAAAATATGCAATGTACAGCTCACACTTATTTTAAAATAAATAGTTAAAAGACATTGTTAGTCCTAAAATAATTACAGAAAAATCCATTTTCTTTAAAGCTGTTTGTCTTGAATGACACTAGATTTTCTACAGTTTGGTTTTTACGTGTAGGGTATACATGTATCTCTTTTCTTACTTAAAATTTTGTGACATTGAGTAATTGTACATCTACTCACAACTAAATACATAATTATTTACTCATAACTCTCATTGAAAATATACAGTATCTAGGAGAGGAGGCAGGATATTTCTTACCATTTAGTTCATATTCTAGGAACTGTACGGTTGAGCTGCATGTGGAATCCAGGACTGTTTCAACATAATCTGCTTTGTTTTTCAAACTGGCACTCCAAGTGGCATTATACACGGGAGAGTCTACCTCAAAGCGTGCAGTCAGTGCTTGAAAGGAAGGAATGACAATTCCAGCAGGTACAGAGAACTTAATGGAGGGAATCTCAATGGTCTGCTCAGGCACGATGATGGTGGGCAACTCAAAGTCTGCGATCTTGTTGGCTACTGCATTTAGATCCAAAGCAGCAATGCCATCTGAAACACTTTTTGGAAGCGTGAACTGGGACACAGTTAACTGAGATTCAGGCACGGTTATCTCAAAAAAGGGAATCAAGGAGTCTTCTGGTTGAGAATATTTTGTTAACACATCAACTTCAGGGAATTTTACCTCGGGGAGTGTTGGTAGGTTGAGGGCAAATGATGAAGTTCTCAGCTTCTTATAGATTTGTATTTCTCTGAAGTCAAGTTTGCACGATGGAACCTGAAGATCTGTAAATGGGACATGGAACGTAGGCATGACAAGAACTGAATTTAGATCATTTAGTTTCAGCCCAGGAATAATGAATTTATCAGCCAAAACTTTTACAGGGATGGAGAATGAATAGCCATTGGGGTTTTTGGTGTACACAAAGGCAGTTGAAACACGAAGATGCTGTCTCCTACCAATGCTGGTGGTTACATCCAGCTTTAGGAAATCCCATAAGCTCTTGTCATAGACTGGTAGGATGATATTTTTGAGGAACCTTAGGTGTCCTTCTAAGGATCCTGCAATGTCAAGGTGTGCCTTTTCTTGGTCATTGGAAAGCTCGACCTGGCTCTGGAAAGACCCAGAATGAATCCGGACTTCATTTTTCCATCTGATCTTCTGGTTCTTAGTGTTAGCATTCAGGGCCACTTCCTGGCCAAGGTCAGGGAAATCATGGAAGGAACTGGGCTGACTTGCATGGACCTGAACAAGAGCTGACATTTGCCATGGAGAGAGTTTCAGGGTGGCTTTGCTTGTATGTTCTCCGTTGGTGAAAAAGAGGCCCTCTAGCTGTAAGTGGTTTTTCGTACTGTGCTCCCAGAGGGAATATATGCGTTGGAGTGTGGCTTCTCCAGCAAAATTTTCTTTTACTTCAAGGTTCCAGATATCATCAATTTTGGAAGTGCCCTGCAGCTTCACTGAAGACCGTGTGCTCTTGGAATTCAAGTAAGTGTTGGCCTCACTAGCAATAGTTCCTGAATATTCCCGAGAAAGAACCGAACCCTTGACATCTCCTTTGGTAGATGACTCAATGGAAAAGTAAGAGGTGAGGCTTTCCAAGCTAAGCTTGTGGTCAACTGCTCCTTTAGCGGTAGAGTACAGCATTGAAGAATTGAAATCATACTTAAATTCCATGGAGGAAGAGACAGTAGGTTTTGACTTGGTATTTCCATTAAGTTCTTGCTTGAAATTCATTCTCAAAATTGGAATTTGGGCTTTTGTGGTTGTTGCCACTGACACTTCCATATTTTTCGTGGTTAAGCTCACAGTACTGTTATGACTACCCTCCACAAATTTGTTGCTCAGAGACAGAGCTGTGGCTAACTTCAATCCCCTTTTTCTTGTCAATCTTGTGGTGCCCTCTAATTTGTACTGCAGTGCATCAATGACAGATGAAGATGAAGAAAGGAGATGAGCAACAATATCTGACTGGTTAAAAAGTTCAGCATTGGTATTCAGTGTGATGACACTTGATTTAAAGGAGAAATCATAGGTAATATTGCCCATGGCAGGAATAAAAATATGGCTTATGGTACACAATTCCTTGAAATCTGGAAGAGAAAGCTTGAGATTTCTAGGGACATGAAGGACTGGCAGCTCTAATGATGGCAGGATTAATGTGTATGAAGGCACACGGACGTCAGAACCTAGGATGGAGAAACTAGGCATGCTGACTGCTTTTGGGAACACATAGCCGAATGCCGACATCTCTATGGTGAATGGAGACACTTCAACATTGACAACTGGAACAGTGTATCCAGGAATTTGAAAGGTCCTGGGGAGCTCGTCGTGAGATTTTTCAGCTTTGTACTTATCAAACTTAATTTTTGTTTCATTATAGGATTTGGTGACAAAATCTAATGCATTGTTTCTGTTTTTTTCAAAATGCCTGTCAAAGGATTTGATGCTCTGACTGATAAACTCACAAAGCACAGCCAAAGGATTTGTGATGGAATGCCTGTGTTTGTTTTTCTTATACTGAGCTTTTACACTTAAATCAAATGATTGCTTTGTCGTTTTCAAGAATTCCTTCAAGCCTGTTTTTTCCCATAGAGAGAAATCTTTCAGTGGAGGAGTTGTGATTATTGTGTAAGGTAGACGCATTTCAGGAATTGTTAAAGGAATGTTTAAGAAATCCAGATTTGCTTCTCCATTTATTCCTACATGGGCCTCCATAATGTTCTCGTTGTTTCCAGCAGAGAAATTTTGGTTGTACTTATACTGATTGAACCTAGCACTTACTTGCCAACTTGCTTGCTGGGCACTGGGACTCAGAAACAGTGCATAGTTATTCAGGAAGTCTATCTTCCCTGTTAACCTTAATGGAAAACGAACTTTCAAATTCCCTTCATTGTTTGTGGATGCCGTGATCTCAAATGGCTGGGCTGAAAAGAAAAGAGAATTTTTCAAAGTTCCAATAACCTTTCCATTTAAATGAGCATCATGCCTCCCAGTAAACTCTGCCTTCCCTTCTCCAAACAGTGCCATGCCTTTAGCAGTTAGAACACTGTGGCCCACATGCTGGGAATCGACTTGTGATTGAATTTCAAGTTTAGAAAAGTTGAGGGAGCCAGATTCATAAACCAAGTTTTGGTTTACTCTTAGGTGTTTGCTATTGATCTTATTGGACAGTCCAAAGGAAGTGAGGGGTCCTTCTATGGTGAAACTAATTTGTGATTCATGTGTTCCCTCATCTGAGAATCTGGGGCAGGCCCATTTCCATGACCCTTTTCCAGAAGAAGTCCATGCTATGTGGCCAGCTTTCAACAGTGTCTTGATCTCGTTG
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Task1_train_3140
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The gene APOB (apolipoprotein B), on Chromosome 2, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Familial hypobetalipoproteinemia 1
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GGGCGTGTCACTCATTAGGTGGTATTTACCTGAGGGCTGTAGTAGAAGTTCCATTTAGAAAAGTCGTCATCTTCATCCATATCCATGCCCACGGTGCCTACGGCTGGGGAGGCTGCTGAGGTGGAGATGCCTTTCTTGTCTTTCTGGTAGCGCAGATGGAGATCGGTGAACGCTGGGCTTTTGATATTGAGGTGCGCTTTTCCTTCCCATTCCCTGAAAGCAGAAAAACAGATGAGCTATCACGAAAGGGGTATGGAGATGAAGAAAATCACAATGAGTTTTCAAAAGGTATAAGGTTTCAATTCAATAAAAGCTCCATACTGAAGTCCTTCATATTTGCCATCTTCTTCATATTCTGCACTGAAGTCACGGTGTGCAAATGTTCCTTTAGTCTTAGAGGCTAACGTACCATCTTCGATTTTGTGTGTTCCCAAAACTGTATAGGAGAGATTTTGTATTTTATTAGATTCATAACAGTAGGACGTTGATGTTTTCATTGTGAAAACTGGGAGAATTCTATCCTAACCAGATATTTCACTTGTGTTTAAAATATGCAATGTACAGCTCACACTTATTTTAAAATAAATAGTTAAAAGACATTGTTAGTCCTAAAATAATTACAGAAAAATCCATTTTCTTTAAAGCTGTTTGTCTTGAATGACACTAGATTTTCTACAGTTTGGTTTTTACGTGTAGGGTATACATGTATCTCTTTTCTTACTTAAAATTTTGTGACATTGAGTAATTGTACATCTACTCACAACTAAATACATAATTATTTACTCATAACTCTCATTGAAAATATACAGTATCTAGGAGAGGAGGCAGGATATTTCTTACCATTTAGTTCATATTCTAGGAACTGTACGGTTGAGCTGCATGTGGAATCCAGGACTGTTTCAACATAATCTGCTTTGTTTTTCAAACTGGCACTCCAAGTGGCATTATACACGGGAGAGTCTACCTCAAAGCGTGCAGTCAGTGCTTGAAAGGAAGGAATGACAATTCCAGCAGGTACAGAGAACTTAATGGAGGGAATCTCAATGGTCTGCTCAGGCACGATGATGGTGGGCAACTCAAAGTCTGCGATCTTGTTGGCTACTGCATTTAGATCCAAAGCAGCAATGCCATCTGAAACACTTTTTGGAAGCGTGAACTGGGACACAGTTAACTGAGATTCAGGCACGGTTATCTCAAAAAAGGGAATCAAGGAGTCTTCTGGTTGAGAATATTTTGTTAACACATCAACTTCAGGGAATTTTACCTCGGGGAGTGTTGGTAGGTTGAGGGCAAATGATGAAGTTCTCAGCTTCTTATAGATTTGTATTTCTCTGAAGTCAAGTTTGCACGATGGAACCTGAAGATCTGTAAATGGGACATGGAACGTAGGCATGACAAGAACTGAATTTAGATCATTTAGTTTCAGCCCAGGAATAATGAATTTATCAGCCAAAACTTTTACAGGGATGGAGAATGAATAGCCATTGGGGTTTTTGGTGTACACAAAGGCAGTTGAAACACGAAGATGCTGTCTCCTACCAATGCTGGTGGTTACATCCAGCTTTAGGAAATCCCATAAGCTCTTGTCATAGACTGGTAGGATGATATTTTTGAGGAACCTTAGGTGTCCTTCTAAGGATCCTGCAATGTCAAGGTGTGCCTTTTCTTGGTCATTGGAAAGCTCGACCTGGCTCTGGAAAGACCCAGAATGAATCCGGACTTCATTTTTCCATCTGATCTTCTGGTTCTTAGTGTTAGCATTCAGGGCCACTTCCTGGCCAAGGTCAGGGAAATCATGGAAGGAACTGGGCTGACTTGCATGGACCTGAACAAGAGCTGACATTTGCCATGGAGAGAGTTCCAGGGTGGCTTTGCTTGTATGTTCTCCGTTGGTGAAAAAGAGGCCCTCTAGCTGTAAGTGGTTTTTCGTACTGTGCTCCCAGAGGGAATATATGCGTTGGAGTGTGGCTTCTCCAGCAAAATTTTCTTTTACTTCAAGGTTCCAGATATCATCAATTTTGGAAGTGCCCTGCAGCTTCACTGAAGACCGTGTGCTCTTGGAATTCAAGTAAGTGTTGGCCTCACTAGCAATAGTTCCTGAATATTCCCGAGAAAGAACCGAACCCTTGACATCTCCTTTGGTAGATGACTCAATGGAAAAGTAAGAGGTGAGGCTTTCCAAGCTAAGCTTGTGGTCAACTGCTCCTTTAGCGGTAGAGTACAGCATTGAAGAATTGAAATCATACTTAAATTCCATGGAGGAAGAGACAGTAGGTTTTGACTTGGTATTTCCATTAAGTTCTTGCTTGAAATTCATTCTCAAAATTGGAATTTGGGCTTTTGTGGTTGTTGCCACTGACACTTCCATATTTTTCGTGGTTAAGCTCACAGTACTGTTATGACTACCCTCCACAAATTTGTTGCTCAGAGACAGAGCTGTGGCTAACTTCAATCCCCTTTTTCTTGTCAATCTTGTGGTGCCCTCTAATTTGTACTGCAGTGCATCAATGACAGATGAAGATGAAGAAAGGAGATGAGCAACAATATCTGACTGGTTAAAAAGTTCAGCATTGGTATTCAGTGTGATGACACTTGATTTAAAGGAGAAATCATAGGTAATATTGCCCATGGCAGGAATAAAAATATGGCTTATGGTACACAATTCCTTGAAATCTGGAAGAGAAAGCTTGAGATTTCTAGGGACATGAAGGACTGGCAGCTCTAATGATGGCAGGATTAATGTGTATGAAGGCACACGGACGTCAGAACCTAGGATGGAGAAACTAGGCATGCTGACTGCTTTTGGGAACACATAGCCGAATGCCGACATCTCTATGGTGAATGGAGACACTTCAACATTGACAACTGGAACAGTGTATCCAGGAATTTGAAAGGTCCTGGGGAGCTCGTCGTGAGATTTTTCAGCTTTGTACTTATCAAACTTAATTTTTGTTTCATTATAGGATTTGGTGACAAAATCTAATGCATTGTTTCTGTTTTTTTCAAAATGCCTGTCAAAGGATTTGATGCTCTGACTGATAAACTCACAAAGCACAGCCAAAGGATTTGTGATGGAATGCCTGTGTTTGTTTTTCTTATACTGAGCTTTTACACTTAAATCAAATGATTGCTTTGTCGTTTTCAAGAATTCCTTCAAGCCTGTTTTTTCCCATAGAGAGAAATCTTTCAGTGGAGGAGTTGTGATTATTGTGTAAGGTAGACGCATTTCAGGAATTGTTAAAGGAATGTTTAAGAAATCCAGATTTGCTTCTCCATTTATTCCTACATGGGCCTCCATAATGTTCTCGTTGTTTCCAGCAGAGAAATTTTGGTTGTACTTATACTGATTGAACCTAGCACTTACTTGCCAACTTGCTTGCTGGGCACTGGGACTCAGAAACAGTGCATAGTTATTCAGGAAGTCTATCTTCCCTGTTAACCTTAATGGAAAACGAACTTTCAAATTCCCTTCATTGTTTGTGGATGCCGTGATCTCAAATGGCTGGGCTGAAAAGAAAAGAGAATTTTTCAAAGTTCCAATAACCTTTCCATTTAAATGAGCATCATGCCTCCCAGTAAACTCTGCCTTCCCTTCTCCAAACAGTGCCATGCCTTTAGCAGTTAGAACACTGTGGCCCACATGCTGGGAATCGACTTGTGATTGAATTTCAAGTTTAGAAAAGTTGAGGGAGCCAGATTCATAAACCAAGTTTTGGTTTACTCTTAGGTGTTTGCTATTGATCTTATTGGACAGTCCAAAGGAAGTGAGGGGTCCTTCTATGGTGAAACTAATTTGTGATTCATGTGTTCCCTCATCTGAGAATCTGGGGCAGGCCCATTTCCATGACCCTTTTCCAGAAGAAGTCCATGCTATGTGGCCAGCTTTCAACAGTGTCTTGATCTCGTTGCGCAGGTCAGCCTGACTAGAGAAGTCCAGTTTGGGGATGTTCAATTTGTGGAAGTATTTAGTGTTGCTATCCAGGGTAAGCTGATTGTTTATCTTGACAATCACTCCATTACTAAGCTCCAGTGTATTTTTTTCTGTGTGTAAACTTGCCACTGTGTTTGATTTTCCCTCAATAGCATTTCCAAAAAA
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GGGCGTGTCACTCATTAGGTGGTATTTACCTGAGGGCTGTAGTAGAAGTTCCATTTAGAAAAGTCGTCATCTTCATCCATATCCATGCCCACGGTGCCTACGGCTGGGGAGGCTGCTGAGGTGGAGATGCCTTTCTTGTCTTTCTGGTAGCGCAGATGGAGATCGGTGAACGCTGGGCTTTTGATATTGAGGTGCGCTTTTCCTTCCCATTCCCTGAAAGCAGAAAAACAGATGAGCTATCACGAAAGGGGTATGGAGATGAAGAAAATCACAATGAGTTTTCAAAAGGTATAAGGTTTCAATTCAATAAAAGCTCCATACTGAAGTCCTTCATATTTGCCATCTTCTTCATATTCTGCACTGAAGTCACGGTGTGCAAATGTTCCTTTAGTCTTAGAGGCTAACGTACCATCTTCGATTTTGTGTGTTCCCAAAACTGTATAGGAGAGATTTTGTATTTTATTAGATTCATAACAGTAGGACGTTGATGTTTTCATTGTGAAAACTGGGAGAATTCTATCCTAACCAGATATTTCACTTGTGTTTAAAATATGCAATGTACAGCTCACACTTATTTTAAAATAAATAGTTAAAAGACATTGTTAGTCCTAAAATAATTACAGAAAAATCCATTTTCTTTAAAGCTGTTTGTCTTGAATGACACTAGATTTTCTACAGTTTGGTTTTTACGTGTAGGGTATACATGTATCTCTTTTCTTACTTAAAATTTTGTGACATTGAGTAATTGTACATCTACTCACAACTAAATACATAATTATTTACTCATAACTCTCATTGAAAATATACAGTATCTAGGAGAGGAGGCAGGATATTTCTTACCATTTAGTTCATATTCTAGGAACTGTACGGTTGAGCTGCATGTGGAATCCAGGACTGTTTCAACATAATCTGCTTTGTTTTTCAAACTGGCACTCCAAGTGGCATTATACACGGGAGAGTCTACCTCAAAGCGTGCAGTCAGTGCTTGAAAGGAAGGAATGACAATTCCAGCAGGTACAGAGAACTTAATGGAGGGAATCTCAATGGTCTGCTCAGGCACGATGATGGTGGGCAACTCAAAGTCTGCGATCTTGTTGGCTACTGCATTTAGATCCAAAGCAGCAATGCCATCTGAAACACTTTTTGGAAGCGTGAACTGGGACACAGTTAACTGAGATTCAGGCACGGTTATCTCAAAAAAGGGAATCAAGGAGTCTTCTGGTTGAGAATATTTTGTTAACACATCAACTTCAGGGAATTTTACCTCGGGGAGTGTTGGTAGGTTGAGGGCAAATGATGAAGTTCTCAGCTTCTTATAGATTTGTATTTCTCTGAAGTCAAGTTTGCACGATGGAACCTGAAGATCTGTAAATGGGACATGGAACGTAGGCATGACAAGAACTGAATTTAGATCATTTAGTTTCAGCCCAGGAATAATGAATTTATCAGCCAAAACTTTTACAGGGATGGAGAATGAATAGCCATTGGGGTTTTTGGTGTACACAAAGGCAGTTGAAACACGAAGATGCTGTCTCCTACCAATGCTGGTGGTTACATCCAGCTTTAGGAAATCCCATAAGCTCTTGTCATAGACTGGTAGGATGATATTTTTGAGGAACCTTAGGTGTCCTTCTAAGGATCCTGCAATGTCAAGGTGTGCCTTTTCTTGGTCATTGGAAAGCTCGACCTGGCTCTGGAAAGACCCAGAATGAATCCGGACTTCATTTTTCCATCTGATCTTCTGGTTCTTAGTGTTAGCATTCAGGGCCACTTCCTGGCCAAGGTCAGGGAAATCATGGAAGGAACTGGGCTGACTTGCATGGACCTGAACAAGAGCTGACATTTGCCATGGAGAGAGTTCCAGGGTGGCTTTGCTTGTATGTTCTCCGTTGGTGAAAAAGAGGCCCTCTAGCTGTAAGTGGTTTTTCGTACTGTGCTCCCAGAGGGAATATATGCGTTGGAGTGTGGCTTCTCCAGCAAAATTTTCTTTTACTTCAAGGTTCCAGATATCATCAATTTTGGAAGTGCCCTGCAGCTTCACTGAAGACAGTGTGCTCTTGGAATTCAAGTAAGTGTTGGCCTCACTAGCAATAGTTCCTGAATATTCCCGAGAAAGAACCGAACCCTTGACATCTCCTTTGGTAGATGACTCAATGGAAAAGTAAGAGGTGAGGCTTTCCAAGCTAAGCTTGTGGTCAACTGCTCCTTTAGCGGTAGAGTACAGCATTGAAGAATTGAAATCATACTTAAATTCCATGGAGGAAGAGACAGTAGGTTTTGACTTGGTATTTCCATTAAGTTCTTGCTTGAAATTCATTCTCAAAATTGGAATTTGGGCTTTTGTGGTTGTTGCCACTGACACTTCCATATTTTTCGTGGTTAAGCTCACAGTACTGTTATGACTACCCTCCACAAATTTGTTGCTCAGAGACAGAGCTGTGGCTAACTTCAATCCCCTTTTTCTTGTCAATCTTGTGGTGCCCTCTAATTTGTACTGCAGTGCATCAATGACAGATGAAGATGAAGAAAGGAGATGAGCAACAATATCTGACTGGTTAAAAAGTTCAGCATTGGTATTCAGTGTGATGACACTTGATTTAAAGGAGAAATCATAGGTAATATTGCCCATGGCAGGAATAAAAATATGGCTTATGGTACACAATTCCTTGAAATCTGGAAGAGAAAGCTTGAGATTTCTAGGGACATGAAGGACTGGCAGCTCTAATGATGGCAGGATTAATGTGTATGAAGGCACACGGACGTCAGAACCTAGGATGGAGAAACTAGGCATGCTGACTGCTTTTGGGAACACATAGCCGAATGCCGACATCTCTATGGTGAATGGAGACACTTCAACATTGACAACTGGAACAGTGTATCCAGGAATTTGAAAGGTCCTGGGGAGCTCGTCGTGAGATTTTTCAGCTTTGTACTTATCAAACTTAATTTTTGTTTCATTATAGGATTTGGTGACAAAATCTAATGCATTGTTTCTGTTTTTTTCAAAATGCCTGTCAAAGGATTTGATGCTCTGACTGATAAACTCACAAAGCACAGCCAAAGGATTTGTGATGGAATGCCTGTGTTTGTTTTTCTTATACTGAGCTTTTACACTTAAATCAAATGATTGCTTTGTCGTTTTCAAGAATTCCTTCAAGCCTGTTTTTTCCCATAGAGAGAAATCTTTCAGTGGAGGAGTTGTGATTATTGTGTAAGGTAGACGCATTTCAGGAATTGTTAAAGGAATGTTTAAGAAATCCAGATTTGCTTCTCCATTTATTCCTACATGGGCCTCCATAATGTTCTCGTTGTTTCCAGCAGAGAAATTTTGGTTGTACTTATACTGATTGAACCTAGCACTTACTTGCCAACTTGCTTGCTGGGCACTGGGACTCAGAAACAGTGCATAGTTATTCAGGAAGTCTATCTTCCCTGTTAACCTTAATGGAAAACGAACTTTCAAATTCCCTTCATTGTTTGTGGATGCCGTGATCTCAAATGGCTGGGCTGAAAAGAAAAGAGAATTTTTCAAAGTTCCAATAACCTTTCCATTTAAATGAGCATCATGCCTCCCAGTAAACTCTGCCTTCCCTTCTCCAAACAGTGCCATGCCTTTAGCAGTTAGAACACTGTGGCCCACATGCTGGGAATCGACTTGTGATTGAATTTCAAGTTTAGAAAAGTTGAGGGAGCCAGATTCATAAACCAAGTTTTGGTTTACTCTTAGGTGTTTGCTATTGATCTTATTGGACAGTCCAAAGGAAGTGAGGGGTCCTTCTATGGTGAAACTAATTTGTGATTCATGTGTTCCCTCATCTGAGAATCTGGGGCAGGCCCATTTCCATGACCCTTTTCCAGAAGAAGTCCATGCTATGTGGCCAGCTTTCAACAGTGTCTTGATCTCGTTGCGCAGGTCAGCCTGACTAGAGAAGTCCAGTTTGGGGATGTTCAATTTGTGGAAGTATTTAGTGTTGCTATCCAGGGTAAGCTGATTGTTTATCTTGACAATCACTCCATTACTAAGCTCCAGTGTATTTTTTTCTGTGTGTAAACTTGCCACTGTGTTTGATTTTCCCTCAATAGCATTTCCAAAAAA
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Task1_train_3141
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Gene APOB (apolipoprotein B) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Hypercholesterolemia, autosomal dominant, type B
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GGGCGTGTCACTCATTAGGTGGTATTTACCTGAGGGCTGTAGTAGAAGTTCCATTTAGAAAAGTCGTCATCTTCATCCATATCCATGCCCACGGTGCCTACGGCTGGGGAGGCTGCTGAGGTGGAGATGCCTTTCTTGTCTTTCTGGTAGCGCAGATGGAGATCGGTGAACGCTGGGCTTTTGATATTGAGGTGCGCTTTTCCTTCCCATTCCCTGAAAGCAGAAAAACAGATGAGCTATCACGAAAGGGGTATGGAGATGAAGAAAATCACAATGAGTTTTCAAAAGGTATAAGGTTTCAATTCAATAAAAGCTCCATACTGAAGTCCTTCATATTTGCCATCTTCTTCATATTCTGCACTGAAGTCACGGTGTGCAAATGTTCCTTTAGTCTTAGAGGCTAACGTACCATCTTCGATTTTGTGTGTTCCCAAAACTGTATAGGAGAGATTTTGTATTTTATTAGATTCATAACAGTAGGACGTTGATGTTTTCATTGTGAAAACTGGGAGAATTCTATCCTAACCAGATATTTCACTTGTGTTTAAAATATGCAATGTACAGCTCACACTTATTTTAAAATAAATAGTTAAAAGACATTGTTAGTCCTAAAATAATTACAGAAAAATCCATTTTCTTTAAAGCTGTTTGTCTTGAATGACACTAGATTTTCTACAGTTTGGTTTTTACGTGTAGGGTATACATGTATCTCTTTTCTTACTTAAAATTTTGTGACATTGAGTAATTGTACATCTACTCACAACTAAATACATAATTATTTACTCATAACTCTCATTGAAAATATACAGTATCTAGGAGAGGAGGCAGGATATTTCTTACCATTTAGTTCATATTCTAGGAACTGTACGGTTGAGCTGCATGTGGAATCCAGGACTGTTTCAACATAATCTGCTTTGTTTTTCAAACTGGCACTCCAAGTGGCATTATACACGGGAGAGTCTACCTCAAAGCGTGCAGTCAGTGCTTGAAAGGAAGGAATGACAATTCCAGCAGGTACAGAGAACTTAATGGAGGGAATCTCAATGGTCTGCTCAGGCACGATGATGGTGGGCAACTCAAAGTCTGCGATCTTGTTGGCTACTGCATTTAGATCCAAAGCAGCAATGCCATCTGAAACACTTTTTGGAAGCGTGAACTGGGACACAGTTAACTGAGATTCAGGCACGGTTATCTCAAAAAAGGGAATCAAGGAGTCTTCTGGTTGAGAATATTTTGTTAACACATCAACTTCAGGGAATTTTACCTCGGGGAGTGTTGGTAGGTTGAGGGCAAATGATGAAGTTCTCAGCTTCTTATAGATTTGTATTTCTCTGAAGTCAAGTTTGCACGATGGAACCTGAAGATCTGTAAATGGGACATGGAACGTAGGCATGACAAGAACTGAATTTAGATCATTTAGTTTCAGCCCAGGAATAATGAATTTATCAGCCAAAACTTTTACAGGGATGGAGAATGAATAGCCATTGGGGTTTTTGGTGTACACAAAGGCAGTTGAAACACGAAGATGCTGTCTCCTACCAATGCTGGTGGTTACATCCAGCTTTAGGAAATCCCATAAGCTCTTGTCATAGACTGGTAGGATGATATTTTTGAGGAACCTTAGGTGTCCTTCTAAGGATCCTGCAATGTCAAGGTGTGCCTTTTCTTGGTCATTGGAAAGCTCGACCTGGCTCTGGAAAGACCCAGAATGAATCCGGACTTCATTTTTCCATCTGATCTTCTGGTTCTTAGTGTTAGCATTCAGGGCCACTTCCTGGCCAAGGTCAGGGAAATCATGGAAGGAACTGGGCTGACTTGCATGGACCTGAACAAGAGCTGACATTTGCCATGGAGAGAGTTCCAGGGTGGCTTTGCTTGTATGTTCTCCGTTGGTGAAAAAGAGGCCCTCTAGCTGTAAGTGGTTTTTCGTACTGTGCTCCCAGAGGGAATATATGCGTTGGAGTGTGGCTTCTCCAGCAAAATTTTCTTTTACTTCAAGGTTCCAGATATCATCAATTTTGGAAGTGCCCTGCAGCTTCACTGAAGACCGTGTGCTCTTGGAATTCAAGTAAGTGTTGGCCTCACTAGCAATAGTTCCTGAATATTCCCGAGAAAGAACCGAACCCTTGACATCTCCTTTGGTAGATGACTCAATGGAAAAGTAAGAGGTGAGGCTTTCCAAGCTAAGCTTGTGGTCAACTGCTCCTTTAGCGGTAGAGTACAGCATTGAAGAATTGAAATCATACTTAAATTCCATGGAGGAAGAGACAGTAGGTTTTGACTTGGTATTTCCATTAAGTTCTTGCTTGAAATTCATTCTCAAAATTGGAATTTGGGCTTTTGTGGTTGTTGCCACTGACACTTCCATATTTTTCGTGGTTAAGCTCACAGTACTGTTATGACTACCCTCCACAAATTTGTTGCTCAGAGACAGAGCTGTGGCTAACTTCAATCCCCTTTTTCTTGTCAATCTTGTGGTGCCCTCTAATTTGTACTGCAGTGCATCAATGACAGATGAAGATGAAGAAAGGAGATGAGCAACAATATCTGACTGGTTAAAAAGTTCAGCATTGGTATTCAGTGTGATGACACTTGATTTAAAGGAGAAATCATAGGTAATATTGCCCATGGCAGGAATAAAAATATGGCTTATGGTACACAATTCCTTGAAATCTGGAAGAGAAAGCTTGAGATTTCTAGGGACATGAAGGACTGGCAGCTCTAATGATGGCAGGATTAATGTGTATGAAGGCACACGGACGTCAGAACCTAGGATGGAGAAACTAGGCATGCTGACTGCTTTTGGGAACACATAGCCGAATGCCGACATCTCTATGGTGAATGGAGACACTTCAACATTGACAACTGGAACAGTGTATCCAGGAATTTGAAAGGTCCTGGGGAGCTCGTCGTGAGATTTTTCAGCTTTGTACTTATCAAACTTAATTTTTGTTTCATTATAGGATTTGGTGACAAAATCTAATGCATTGTTTCTGTTTTTTTCAAAATGCCTGTCAAAGGATTTGATGCTCTGACTGATAAACTCACAAAGCACAGCCAAAGGATTTGTGATGGAATGCCTGTGTTTGTTTTTCTTATACTGAGCTTTTACACTTAAATCAAATGATTGCTTTGTCGTTTTCAAGAATTCCTTCAAGCCTGTTTTTTCCCATAGAGAGAAATCTTTCAGTGGAGGAGTTGTGATTATTGTGTAAGGTAGACGCATTTCAGGAATTGTTAAAGGAATGTTTAAGAAATCCAGATTTGCTTCTCCATTTATTCCTACATGGGCCTCCATAATGTTCTCGTTGTTTCCAGCAGAGAAATTTTGGTTGTACTTATACTGATTGAACCTAGCACTTACTTGCCAACTTGCTTGCTGGGCACTGGGACTCAGAAACAGTGCATAGTTATTCAGGAAGTCTATCTTCCCTGTTAACCTTAATGGAAAACGAACTTTCAAATTCCCTTCATTGTTTGTGGATGCCGTGATCTCAAATGGCTGGGCTGAAAAGAAAAGAGAATTTTTCAAAGTTCCAATAACCTTTCCATTTAAATGAGCATCATGCCTCCCAGTAAACTCTGCCTTCCCTTCTCCAAACAGTGCCATGCCTTTAGCAGTTAGAACACTGTGGCCCACATGCTGGGAATCGACTTGTGATTGAATTTCAAGTTTAGAAAAGTTGAGGGAGCCAGATTCATAAACCAAGTTTTGGTTTACTCTTAGGTGTTTGCTATTGATCTTATTGGACAGTCCAAAGGAAGTGAGGGGTCCTTCTATGGTGAAACTAATTTGTGATTCATGTGTTCCCTCATCTGAGAATCTGGGGCAGGCCCATTTCCATGACCCTTTTCCAGAAGAAGTCCATGCTATGTGGCCAGCTTTCAACAGTGTCTTGATCTCGTTGCGCAGGTCAGCCTGACTAGAGAAGTCCAGTTTGGGGATGTTCAATTTGTGGAAGTATTTAGTGTTGCTATCCAGGGTAAGCTGATTGTTTATCTTGACAATCACTCCATTACTAAGCTCCAGTGTATTTTTTTCTGTGTGTAAACTTGCCACTGTGTTTGATTTTCCCTCAATAGCATTTCCAAAAAA
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GGGCGTGTCACTCATTAGGTGGTATTTACCTGAGGGCTGTAGTAGAAGTTCCATTTAGAAAAGTCGTCATCTTCATCCATATCCATGCCCACGGTGCCTACGGCTGGGGAGGCTGCTGAGGTGGAGATGCCTTTCTTGTCTTTCTGGTAGCGCAGATGGAGATCGGTGAACGCTGGGCTTTTGATATTGAGGTGCGCTTTTCCTTCCCATTCCCTGAAAGCAGAAAAACAGATGAGCTATCACGAAAGGGGTATGGAGATGAAGAAAATCACAATGAGTTTTCAAAAGGTATAAGGTTTCAATTCAATAAAAGCTCCATACTGAAGTCCTTCATATTTGCCATCTTCTTCATATTCTGCACTGAAGTCACGGTGTGCAAATGTTCCTTTAGTCTTAGAGGCTAACGTACCATCTTCGATTTTGTGTGTTCCCAAAACTGTATAGGAGAGATTTTGTATTTTATTAGATTCATAACAGTAGGACGTTGATGTTTTCATTGTGAAAACTGGGAGAATTCTATCCTAACCAGATATTTCACTTGTGTTTAAAATATGCAATGTACAGCTCACACTTATTTTAAAATAAATAGTTAAAAGACATTGTTAGTCCTAAAATAATTACAGAAAAATCCATTTTCTTTAAAGCTGTTTGTCTTGAATGACACTAGATTTTCTACAGTTTGGTTTTTACGTGTAGGGTATACATGTATCTCTTTTCTTACTTAAAATTTTGTGACATTGAGTAATTGTACATCTACTCACAACTAAATACATAATTATTTACTCATAACTCTCATTGAAAATATACAGTATCTAGGAGAGGAGGCAGGATATTTCTTACCATTTAGTTCATATTCTAGGAACTGTACGGTTGAGCTGCATGTGGAATCCAGGACTGTTTCAACATAATCTGCTTTGTTTTTCAAACTGGCACTCCAAGTGGCATTATACACGGGAGAGTCTACCTCAAAGCGTGCAGTCAGTGCTTGAAAGGAAGGAATGACAATTCCAGCAGGTACAGAGAACTTAATGGAGGGAATCTCAATGGTCTGCTCAGGCACGATGATGGTGGGCAACTCAAAGTCTGCGATCTTGTTGGCTACTGCATTTAGATCCAAAGCAGCAATGCCATCTGAAACACTTTTTGGAAGCGTGAACTGGGACACAGTTAACTGAGATTCAGGCACGGTTATCTCAAAAAAGGGAATCAAGGAGTCTTCTGGTTGAGAATATTTTGTTAACACATCAACTTCAGGGAATTTTACCTCGGGGAGTGTTGGTAGGTTGAGGGCAAATGATGAAGTTCTCAGCTTCTTATAGATTTGTATTTCTCTGAAGTCAAGTTTGCACGATGGAACCTGAAGATCTGTAAATGGGACATGGAACGTAGGCATGACAAGAACTGAATTTAGATCATTTAGTTTCAGCCCAGGAATAATGAATTTATCAGCCAAAACTTTTACAGGGATGGAGAATGAATAGCCATTGGGGTTTTTGGTGTACACAAAGGCAGTTGAAACACGAAGATGCTGTCTCCTACCAATGCTGGTGGTTACATCCAGCTTTAGGAAATCCCATAAGCTCTTGTCATAGACTGGTAGGATGATATTTTTGAGGAACCTTAGGTGTCCTTCTAAGGATCCTGCAATGTCAAGGTGTGCCTTTTCTTGGTCATTGGAAAGCTCGACCTGGCTCTGGAAAGACCCAGAATGAATCCGGACTTCATTTTTCCATCTGATCTTCTGGTTCTTAGTGTTAGCATTCAGGGCCACTTCCTGGCCAAGGTCAGGGAAATCATGGAAGGAACTGGGCTGACTTGCATGGACCTGAACAAGAGCTGACATTTGCCATGGAGAGAGTTCCAGGGTGGCTTTGCTTGTATGTTCTCCGTTGGTGAAAAAGAGGCCCTCTAGCTGTAAGTGGTTTTTCGTACTGTGCTCCCAGAGGGAATATATGCGTTGGAGTGTGGCTTCTCCAGCAAAATTTTCTTTTACTTCAAGGTTCCAGATATCATCAATTTTGGAAGTGCCCTGCAGCTTCACTGAAGACAGTGTGCTCTTGGAATTCAAGTAAGTGTTGGCCTCACTAGCAATAGTTCCTGAATATTCCCGAGAAAGAACCGAACCCTTGACATCTCCTTTGGTAGATGACTCAATGGAAAAGTAAGAGGTGAGGCTTTCCAAGCTAAGCTTGTGGTCAACTGCTCCTTTAGCGGTAGAGTACAGCATTGAAGAATTGAAATCATACTTAAATTCCATGGAGGAAGAGACAGTAGGTTTTGACTTGGTATTTCCATTAAGTTCTTGCTTGAAATTCATTCTCAAAATTGGAATTTGGGCTTTTGTGGTTGTTGCCACTGACACTTCCATATTTTTCGTGGTTAAGCTCACAGTACTGTTATGACTACCCTCCACAAATTTGTTGCTCAGAGACAGAGCTGTGGCTAACTTCAATCCCCTTTTTCTTGTCAATCTTGTGGTGCCCTCTAATTTGTACTGCAGTGCATCAATGACAGATGAAGATGAAGAAAGGAGATGAGCAACAATATCTGACTGGTTAAAAAGTTCAGCATTGGTATTCAGTGTGATGACACTTGATTTAAAGGAGAAATCATAGGTAATATTGCCCATGGCAGGAATAAAAATATGGCTTATGGTACACAATTCCTTGAAATCTGGAAGAGAAAGCTTGAGATTTCTAGGGACATGAAGGACTGGCAGCTCTAATGATGGCAGGATTAATGTGTATGAAGGCACACGGACGTCAGAACCTAGGATGGAGAAACTAGGCATGCTGACTGCTTTTGGGAACACATAGCCGAATGCCGACATCTCTATGGTGAATGGAGACACTTCAACATTGACAACTGGAACAGTGTATCCAGGAATTTGAAAGGTCCTGGGGAGCTCGTCGTGAGATTTTTCAGCTTTGTACTTATCAAACTTAATTTTTGTTTCATTATAGGATTTGGTGACAAAATCTAATGCATTGTTTCTGTTTTTTTCAAAATGCCTGTCAAAGGATTTGATGCTCTGACTGATAAACTCACAAAGCACAGCCAAAGGATTTGTGATGGAATGCCTGTGTTTGTTTTTCTTATACTGAGCTTTTACACTTAAATCAAATGATTGCTTTGTCGTTTTCAAGAATTCCTTCAAGCCTGTTTTTTCCCATAGAGAGAAATCTTTCAGTGGAGGAGTTGTGATTATTGTGTAAGGTAGACGCATTTCAGGAATTGTTAAAGGAATGTTTAAGAAATCCAGATTTGCTTCTCCATTTATTCCTACATGGGCCTCCATAATGTTCTCGTTGTTTCCAGCAGAGAAATTTTGGTTGTACTTATACTGATTGAACCTAGCACTTACTTGCCAACTTGCTTGCTGGGCACTGGGACTCAGAAACAGTGCATAGTTATTCAGGAAGTCTATCTTCCCTGTTAACCTTAATGGAAAACGAACTTTCAAATTCCCTTCATTGTTTGTGGATGCCGTGATCTCAAATGGCTGGGCTGAAAAGAAAAGAGAATTTTTCAAAGTTCCAATAACCTTTCCATTTAAATGAGCATCATGCCTCCCAGTAAACTCTGCCTTCCCTTCTCCAAACAGTGCCATGCCTTTAGCAGTTAGAACACTGTGGCCCACATGCTGGGAATCGACTTGTGATTGAATTTCAAGTTTAGAAAAGTTGAGGGAGCCAGATTCATAAACCAAGTTTTGGTTTACTCTTAGGTGTTTGCTATTGATCTTATTGGACAGTCCAAAGGAAGTGAGGGGTCCTTCTATGGTGAAACTAATTTGTGATTCATGTGTTCCCTCATCTGAGAATCTGGGGCAGGCCCATTTCCATGACCCTTTTCCAGAAGAAGTCCATGCTATGTGGCCAGCTTTCAACAGTGTCTTGATCTCGTTGCGCAGGTCAGCCTGACTAGAGAAGTCCAGTTTGGGGATGTTCAATTTGTGGAAGTATTTAGTGTTGCTATCCAGGGTAAGCTGATTGTTTATCTTGACAATCACTCCATTACTAAGCTCCAGTGTATTTTTTTCTGTGTGTAAACTTGCCACTGTGTTTGATTTTCCCTCAATAGCATTTCCAAAAAA
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Task1_train_3142
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This alteration occurs within gene APOB (apolipoprotein B) located on Chromosome 2. Is it associated with a disease or is it a benign variant?
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Pathogenic; Familial hypobetalipoproteinemia 1
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GGCTAACGTACCATCTTCGATTTTGTGTGTTCCCAAAACTGTATAGGAGAGATTTTGTATTTTATTAGATTCATAACAGTAGGACGTTGATGTTTTCATTGTGAAAACTGGGAGAATTCTATCCTAACCAGATATTTCACTTGTGTTTAAAATATGCAATGTACAGCTCACACTTATTTTAAAATAAATAGTTAAAAGACATTGTTAGTCCTAAAATAATTACAGAAAAATCCATTTTCTTTAAAGCTGTTTGTCTTGAATGACACTAGATTTTCTACAGTTTGGTTTTTACGTGTAGGGTATACATGTATCTCTTTTCTTACTTAAAATTTTGTGACATTGAGTAATTGTACATCTACTCACAACTAAATACATAATTATTTACTCATAACTCTCATTGAAAATATACAGTATCTAGGAGAGGAGGCAGGATATTTCTTACCATTTAGTTCATATTCTAGGAACTGTACGGTTGAGCTGCATGTGGAATCCAGGACTGTTTCAACATAATCTGCTTTGTTTTTCAAACTGGCACTCCAAGTGGCATTATACACGGGAGAGTCTACCTCAAAGCGTGCAGTCAGTGCTTGAAAGGAAGGAATGACAATTCCAGCAGGTACAGAGAACTTAATGGAGGGAATCTCAATGGTCTGCTCAGGCACGATGATGGTGGGCAACTCAAAGTCTGCGATCTTGTTGGCTACTGCATTTAGATCCAAAGCAGCAATGCCATCTGAAACACTTTTTGGAAGCGTGAACTGGGACACAGTTAACTGAGATTCAGGCACGGTTATCTCAAAAAAGGGAATCAAGGAGTCTTCTGGTTGAGAATATTTTGTTAACACATCAACTTCAGGGAATTTTACCTCGGGGAGTGTTGGTAGGTTGAGGGCAAATGATGAAGTTCTCAGCTTCTTATAGATTTGTATTTCTCTGAAGTCAAGTTTGCACGATGGAACCTGAAGATCTGTAAATGGGACATGGAACGTAGGCATGACAAGAACTGAATTTAGATCATTTAGTTTCAGCCCAGGAATAATGAATTTATCAGCCAAAACTTTTACAGGGATGGAGAATGAATAGCCATTGGGGTTTTTGGTGTACACAAAGGCAGTTGAAACACGAAGATGCTGTCTCCTACCAATGCTGGTGGTTACATCCAGCTTTAGGAAATCCCATAAGCTCTTGTCATAGACTGGTAGGATGATATTTTTGAGGAACCTTAGGTGTCCTTCTAAGGATCCTGCAATGTCAAGGTGTGCCTTTTCTTGGTCATTGGAAAGCTCGACCTGGCTCTGGAAAGACCCAGAATGAATCCGGACTTCATTTTTCCATCTGATCTTCTGGTTCTTAGTGTTAGCATTCAGGGCCACTTCCTGGCCAAGGTCAGGGAAATCATGGAAGGAACTGGGCTGACTTGCATGGACCTGAACAAGAGCTGACATTTGCCATGGAGAGAGTTCCAGGGTGGCTTTGCTTGTATGTTCTCCGTTGGTGAAAAAGAGGCCCTCTAGCTGTAAGTGGTTTTTCGTACTGTGCTCCCAGAGGGAATATATGCGTTGGAGTGTGGCTTCTCCAGCAAAATTTTCTTTTACTTCAAGGTTCCAGATATCATCAATTTTGGAAGTGCCCTGCAGCTTCACTGAAGACCGTGTGCTCTTGGAATTCAAGTAAGTGTTGGCCTCACTAGCAATAGTTCCTGAATATTCCCGAGAAAGAACCGAACCCTTGACATCTCCTTTGGTAGATGACTCAATGGAAAAGTAAGAGGTGAGGCTTTCCAAGCTAAGCTTGTGGTCAACTGCTCCTTTAGCGGTAGAGTACAGCATTGAAGAATTGAAATCATACTTAAATTCCATGGAGGAAGAGACAGTAGGTTTTGACTTGGTATTTCCATTAAGTTCTTGCTTGAAATTCATTCTCAAAATTGGAATTTGGGCTTTTGTGGTTGTTGCCACTGACACTTCCATATTTTTCGTGGTTAAGCTCACAGTACTGTTATGACTACCCTCCACAAATTTGTTGCTCAGAGACAGAGCTGTGGCTAACTTCAATCCCCTTTTTCTTGTCAATCTTGTGGTGCCCTCTAATTTGTACTGCAGTGCATCAATGACAGATGAAGATGAAGAAAGGAGATGAGCAACAATATCTGACTGGTTAAAAAGTTCAGCATTGGTATTCAGTGTGATGACACTTGATTTAAAGGAGAAATCATAGGTAATATTGCCCATGGCAGGAATAAAAATATGGCTTATGGTACACAATTCCTTGAAATCTGGAAGAGAAAGCTTGAGATTTCTAGGGACATGAAGGACTGGCAGCTCTAATGATGGCAGGATTAATGTGTATGAAGGCACACGGACGTCAGAACCTAGGATGGAGAAACTAGGCATGCTGACTGCTTTTGGGAACACATAGCCGAATGCCGACATCTCTATGGTGAATGGAGACACTTCAACATTGACAACTGGAACAGTGTATCCAGGAATTTGAAAGGTCCTGGGGAGCTCGTCGTGAGATTTTTCAGCTTTGTACTTATCAAACTTAATTTTTGTTTCATTATAGGATTTGGTGACAAAATCTAATGCATTGTTTCTGTTTTTTTCAAAATGCCTGTCAAAGGATTTGATGCTCTGACTGATAAACTCACAAAGCACAGCCAAAGGATTTGTGATGGAATGCCTGTGTTTGTTTTTCTTATACTGAGCTTTTACACTTAAATCAAATGATTGCTTTGTCGTTTTCAAGAATTCCTTCAAGCCTGTTTTTTCCCATAGAGAGAAATCTTTCAGTGGAGGAGTTGTGATTATTGTGTAAGGTAGACGCATTTCAGGAATTGTTAAAGGAATGTTTAAGAAATCCAGATTTGCTTCTCCATTTATTCCTACATGGGCCTCCATAATGTTCTCGTTGTTTCCAGCAGAGAAATTTTGGTTGTACTTATACTGATTGAACCTAGCACTTACTTGCCAACTTGCTTGCTGGGCACTGGGACTCAGAAACAGTGCATAGTTATTCAGGAAGTCTATCTTCCCTGTTAACCTTAATGGAAAACGAACTTTCAAATTCCCTTCATTGTTTGTGGATGCCGTGATCTCAAATGGCTGGGCTGAAAAGAAAAGAGAATTTTTCAAAGTTCCAATAACCTTTCCATTTAAATGAGCATCATGCCTCCCAGTAAACTCTGCCTTCCCTTCTCCAAACAGTGCCATGCCTTTAGCAGTTAGAACACTGTGGCCCACATGCTGGGAATCGACTTGTGATTGAATTTCAAGTTTAGAAAAGTTGAGGGAGCCAGATTCATAAACCAAGTTTTGGTTTACTCTTAGGTGTTTGCTATTGATCTTATTGGACAGTCCAAAGGAAGTGAGGGGTCCTTCTATGGTGAAACTAATTTGTGATTCATGTGTTCCCTCATCTGAGAATCTGGGGCAGGCCCATTTCCATGACCCTTTTCCAGAAGAAGTCCATGCTATGTGGCCAGCTTTCAACAGTGTCTTGATCTCGTTGCGCAGGTCAGCCTGACTAGAGAAGTCCAGTTTGGGGATGTTCAATTTGTGGAAGTATTTAGTGTTGCTATCCAGGGTAAGCTGATTGTTTATCTTGACAATCACTCCATTACTAAGCTCCAGTGTATTTTTTTCTGTGTGTAAACTTGCCACTGTGTTTGATTTTCCCTCAATAGCATTTCCAAAAAACAGCATTTCACTCCCATGCTCCGTTCTCAGGTACTTGCTGGAGAACTTCACTGACTCCTTCAGAGCCAGCGGATTAATCTTAGGGTTTGAGAGTTGTGCATTTGCTTGAAAATCAAAATTGAGAACTTCTAATTTGGACTCTCCTTTGGCAGTGATGGAAGCTGCGATACCTGCTTCGTTTGCTGAGGTGGTTCCATTCCCTATGTCAGCATTTGCATCTAATGTGAAAAGAGGAGATTGGATTTTCAGAATACTGTATAGCTTGCCAAAAGTAGGTACTTCAATTGTGTGTGAGATGTGGGGAAGCTGGAATTCTGGTATGTGAAGGTCAGGAACTTGAAAATCATTAAGGTTGAGAGTTGGGATTATGAATTCTGGAATTGCGATTTCTGGTAAAC
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GGCTAACGTACCATCTTCGATTTTGTGTGTTCCCAAAACTGTATAGGAGAGATTTTGTATTTTATTAGATTCATAACAGTAGGACGTTGATGTTTTCATTGTGAAAACTGGGAGAATTCTATCCTAACCAGATATTTCACTTGTGTTTAAAATATGCAATGTACAGCTCACACTTATTTTAAAATAAATAGTTAAAAGACATTGTTAGTCCTAAAATAATTACAGAAAAATCCATTTTCTTTAAAGCTGTTTGTCTTGAATGACACTAGATTTTCTACAGTTTGGTTTTTACGTGTAGGGTATACATGTATCTCTTTTCTTACTTAAAATTTTGTGACATTGAGTAATTGTACATCTACTCACAACTAAATACATAATTATTTACTCATAACTCTCATTGAAAATATACAGTATCTAGGAGAGGAGGCAGGATATTTCTTACCATTTAGTTCATATTCTAGGAACTGTACGGTTGAGCTGCATGTGGAATCCAGGACTGTTTCAACATAATCTGCTTTGTTTTTCAAACTGGCACTCCAAGTGGCATTATACACGGGAGAGTCTACCTCAAAGCGTGCAGTCAGTGCTTGAAAGGAAGGAATGACAATTCCAGCAGGTACAGAGAACTTAATGGAGGGAATCTCAATGGTCTGCTCAGGCACGATGATGGTGGGCAACTCAAAGTCTGCGATCTTGTTGGCTACTGCATTTAGATCCAAAGCAGCAATGCCATCTGAAACACTTTTTGGAAGCGTGAACTGGGACACAGTTAACTGAGATTCAGGCACGGTTATCTCAAAAAAGGGAATCAAGGAGTCTTCTGGTTGAGAATATTTTGTTAACACATCAACTTCAGGGAATTTTACCTCGGGGAGTGTTGGTAGGTTGAGGGCAAATGATGAAGTTCTCAGCTTCTTATAGATTTGTATTTCTCTGAAGTCAAGTTTGCACGATGGAACCTGAAGATCTGTAAATGGGACATGGAACGTAGGCATGACAAGAACTGAATTTAGATCATTTAGTTTCAGCCCAGGAATAATGAATTTATCAGCCAAAACTTTTACAGGGATGGAGAATGAATAGCCATTGGGGTTTTTGGTGTACACAAAGGCAGTTGAAACACGAAGATGCTGTCTCCTACCAATGCTGGTGGTTACATCCAGCTTTAGGAAATCCCATAAGCTCTTGTCATAGACTGGTAGGATGATATTTTTGAGGAACCTTAGGTGTCCTTCTAAGGATCCTGCAATGTCAAGGTGTGCCTTTTCTTGGTCATTGGAAAGCTCGACCTGGCTCTGGAAAGACCCAGAATGAATCCGGACTTCATTTTTCCATCTGATCTTCTGGTTCTTAGTGTTAGCATTCAGGGCCACTTCCTGGCCAAGGTCAGGGAAATCATGGAAGGAACTGGGCTGACTTGCATGGACCTGAACAAGAGCTGACATTTGCCATGGAGAGAGTTCCAGGGTGGCTTTGCTTGTATGTTCTCCGTTGGTGAAAAAGAGGCCCTCTAGCTGTAAGTGGTTTTTCGTACTGTGCTCCCAGAGGGAATATATGCGTTGGAGTGTGGCTTCTCCAGCAAAATTTTCTTTTACTTCAAGGTTCCAGATATCATCAATTTTGGAAGTGCCCTGCAGCTTCACTGAAGACCGTGTGCTCTTGGAATTCAAGTAAGTGTTGGCCTCACTAGCAATAGTTCCTGAATATTCCCGAGAAAGAACCGAACCCTTGACATCTCCTTTGGTAGATGACTCAATGGAAAAGTAAGAGGTGAGGCTTTCCAAGCTAAGCTTGTGGTCAACTGCTCCTTTAGCGGTAGAGTACAGCATTGAAGAATTGAAATCATACTTAAATTCCATGGAGGAAGAGACAGTAGGTTTTGACTTGGTATTTCCATTAAGTTCTTGCTTGAAATTCATTCTCAAAATTGGAATTTGGGCTTTTGTGGTTGTTGCCACTGACACTTCCATATTTTTCGTGGTTAAGCTCACAGTACTGTTATGACTACCCTCCACAAATTTGTTGCTCAGAGACAGAGCTGTGGCTAAGTTCAATCCCCTTTTTCTTGTCAATCTTGTGGTGCCCTCTAATTTGTACTGCAGTGCATCAATGACAGATGAAGATGAAGAAAGGAGATGAGCAACAATATCTGACTGGTTAAAAAGTTCAGCATTGGTATTCAGTGTGATGACACTTGATTTAAAGGAGAAATCATAGGTAATATTGCCCATGGCAGGAATAAAAATATGGCTTATGGTACACAATTCCTTGAAATCTGGAAGAGAAAGCTTGAGATTTCTAGGGACATGAAGGACTGGCAGCTCTAATGATGGCAGGATTAATGTGTATGAAGGCACACGGACGTCAGAACCTAGGATGGAGAAACTAGGCATGCTGACTGCTTTTGGGAACACATAGCCGAATGCCGACATCTCTATGGTGAATGGAGACACTTCAACATTGACAACTGGAACAGTGTATCCAGGAATTTGAAAGGTCCTGGGGAGCTCGTCGTGAGATTTTTCAGCTTTGTACTTATCAAACTTAATTTTTGTTTCATTATAGGATTTGGTGACAAAATCTAATGCATTGTTTCTGTTTTTTTCAAAATGCCTGTCAAAGGATTTGATGCTCTGACTGATAAACTCACAAAGCACAGCCAAAGGATTTGTGATGGAATGCCTGTGTTTGTTTTTCTTATACTGAGCTTTTACACTTAAATCAAATGATTGCTTTGTCGTTTTCAAGAATTCCTTCAAGCCTGTTTTTTCCCATAGAGAGAAATCTTTCAGTGGAGGAGTTGTGATTATTGTGTAAGGTAGACGCATTTCAGGAATTGTTAAAGGAATGTTTAAGAAATCCAGATTTGCTTCTCCATTTATTCCTACATGGGCCTCCATAATGTTCTCGTTGTTTCCAGCAGAGAAATTTTGGTTGTACTTATACTGATTGAACCTAGCACTTACTTGCCAACTTGCTTGCTGGGCACTGGGACTCAGAAACAGTGCATAGTTATTCAGGAAGTCTATCTTCCCTGTTAACCTTAATGGAAAACGAACTTTCAAATTCCCTTCATTGTTTGTGGATGCCGTGATCTCAAATGGCTGGGCTGAAAAGAAAAGAGAATTTTTCAAAGTTCCAATAACCTTTCCATTTAAATGAGCATCATGCCTCCCAGTAAACTCTGCCTTCCCTTCTCCAAACAGTGCCATGCCTTTAGCAGTTAGAACACTGTGGCCCACATGCTGGGAATCGACTTGTGATTGAATTTCAAGTTTAGAAAAGTTGAGGGAGCCAGATTCATAAACCAAGTTTTGGTTTACTCTTAGGTGTTTGCTATTGATCTTATTGGACAGTCCAAAGGAAGTGAGGGGTCCTTCTATGGTGAAACTAATTTGTGATTCATGTGTTCCCTCATCTGAGAATCTGGGGCAGGCCCATTTCCATGACCCTTTTCCAGAAGAAGTCCATGCTATGTGGCCAGCTTTCAACAGTGTCTTGATCTCGTTGCGCAGGTCAGCCTGACTAGAGAAGTCCAGTTTGGGGATGTTCAATTTGTGGAAGTATTTAGTGTTGCTATCCAGGGTAAGCTGATTGTTTATCTTGACAATCACTCCATTACTAAGCTCCAGTGTATTTTTTTCTGTGTGTAAACTTGCCACTGTGTTTGATTTTCCCTCAATAGCATTTCCAAAAAACAGCATTTCACTCCCATGCTCCGTTCTCAGGTACTTGCTGGAGAACTTCACTGACTCCTTCAGAGCCAGCGGATTAATCTTAGGGTTTGAGAGTTGTGCATTTGCTTGAAAATCAAAATTGAGAACTTCTAATTTGGACTCTCCTTTGGCAGTGATGGAAGCTGCGATACCTGCTTCGTTTGCTGAGGTGGTTCCATTCCCTATGTCAGCATTTGCATCTAATGTGAAAAGAGGAGATTGGATTTTCAGAATACTGTATAGCTTGCCAAAAGTAGGTACTTCAATTGTGTGTGAGATGTGGGGAAGCTGGAATTCTGGTATGTGAAGGTCAGGAACTTGAAAATCATTAAGGTTGAGAGTTGGGATTATGAATTCTGGAATTGCGATTTCTGGTAAAC
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Task1_train_3143
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A change on Chromosome 2 affects gene APOB (apolipoprotein B). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Hypercholesterolemia, autosomal dominant, type B
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GGCTAACGTACCATCTTCGATTTTGTGTGTTCCCAAAACTGTATAGGAGAGATTTTGTATTTTATTAGATTCATAACAGTAGGACGTTGATGTTTTCATTGTGAAAACTGGGAGAATTCTATCCTAACCAGATATTTCACTTGTGTTTAAAATATGCAATGTACAGCTCACACTTATTTTAAAATAAATAGTTAAAAGACATTGTTAGTCCTAAAATAATTACAGAAAAATCCATTTTCTTTAAAGCTGTTTGTCTTGAATGACACTAGATTTTCTACAGTTTGGTTTTTACGTGTAGGGTATACATGTATCTCTTTTCTTACTTAAAATTTTGTGACATTGAGTAATTGTACATCTACTCACAACTAAATACATAATTATTTACTCATAACTCTCATTGAAAATATACAGTATCTAGGAGAGGAGGCAGGATATTTCTTACCATTTAGTTCATATTCTAGGAACTGTACGGTTGAGCTGCATGTGGAATCCAGGACTGTTTCAACATAATCTGCTTTGTTTTTCAAACTGGCACTCCAAGTGGCATTATACACGGGAGAGTCTACCTCAAAGCGTGCAGTCAGTGCTTGAAAGGAAGGAATGACAATTCCAGCAGGTACAGAGAACTTAATGGAGGGAATCTCAATGGTCTGCTCAGGCACGATGATGGTGGGCAACTCAAAGTCTGCGATCTTGTTGGCTACTGCATTTAGATCCAAAGCAGCAATGCCATCTGAAACACTTTTTGGAAGCGTGAACTGGGACACAGTTAACTGAGATTCAGGCACGGTTATCTCAAAAAAGGGAATCAAGGAGTCTTCTGGTTGAGAATATTTTGTTAACACATCAACTTCAGGGAATTTTACCTCGGGGAGTGTTGGTAGGTTGAGGGCAAATGATGAAGTTCTCAGCTTCTTATAGATTTGTATTTCTCTGAAGTCAAGTTTGCACGATGGAACCTGAAGATCTGTAAATGGGACATGGAACGTAGGCATGACAAGAACTGAATTTAGATCATTTAGTTTCAGCCCAGGAATAATGAATTTATCAGCCAAAACTTTTACAGGGATGGAGAATGAATAGCCATTGGGGTTTTTGGTGTACACAAAGGCAGTTGAAACACGAAGATGCTGTCTCCTACCAATGCTGGTGGTTACATCCAGCTTTAGGAAATCCCATAAGCTCTTGTCATAGACTGGTAGGATGATATTTTTGAGGAACCTTAGGTGTCCTTCTAAGGATCCTGCAATGTCAAGGTGTGCCTTTTCTTGGTCATTGGAAAGCTCGACCTGGCTCTGGAAAGACCCAGAATGAATCCGGACTTCATTTTTCCATCTGATCTTCTGGTTCTTAGTGTTAGCATTCAGGGCCACTTCCTGGCCAAGGTCAGGGAAATCATGGAAGGAACTGGGCTGACTTGCATGGACCTGAACAAGAGCTGACATTTGCCATGGAGAGAGTTCCAGGGTGGCTTTGCTTGTATGTTCTCCGTTGGTGAAAAAGAGGCCCTCTAGCTGTAAGTGGTTTTTCGTACTGTGCTCCCAGAGGGAATATATGCGTTGGAGTGTGGCTTCTCCAGCAAAATTTTCTTTTACTTCAAGGTTCCAGATATCATCAATTTTGGAAGTGCCCTGCAGCTTCACTGAAGACCGTGTGCTCTTGGAATTCAAGTAAGTGTTGGCCTCACTAGCAATAGTTCCTGAATATTCCCGAGAAAGAACCGAACCCTTGACATCTCCTTTGGTAGATGACTCAATGGAAAAGTAAGAGGTGAGGCTTTCCAAGCTAAGCTTGTGGTCAACTGCTCCTTTAGCGGTAGAGTACAGCATTGAAGAATTGAAATCATACTTAAATTCCATGGAGGAAGAGACAGTAGGTTTTGACTTGGTATTTCCATTAAGTTCTTGCTTGAAATTCATTCTCAAAATTGGAATTTGGGCTTTTGTGGTTGTTGCCACTGACACTTCCATATTTTTCGTGGTTAAGCTCACAGTACTGTTATGACTACCCTCCACAAATTTGTTGCTCAGAGACAGAGCTGTGGCTAACTTCAATCCCCTTTTTCTTGTCAATCTTGTGGTGCCCTCTAATTTGTACTGCAGTGCATCAATGACAGATGAAGATGAAGAAAGGAGATGAGCAACAATATCTGACTGGTTAAAAAGTTCAGCATTGGTATTCAGTGTGATGACACTTGATTTAAAGGAGAAATCATAGGTAATATTGCCCATGGCAGGAATAAAAATATGGCTTATGGTACACAATTCCTTGAAATCTGGAAGAGAAAGCTTGAGATTTCTAGGGACATGAAGGACTGGCAGCTCTAATGATGGCAGGATTAATGTGTATGAAGGCACACGGACGTCAGAACCTAGGATGGAGAAACTAGGCATGCTGACTGCTTTTGGGAACACATAGCCGAATGCCGACATCTCTATGGTGAATGGAGACACTTCAACATTGACAACTGGAACAGTGTATCCAGGAATTTGAAAGGTCCTGGGGAGCTCGTCGTGAGATTTTTCAGCTTTGTACTTATCAAACTTAATTTTTGTTTCATTATAGGATTTGGTGACAAAATCTAATGCATTGTTTCTGTTTTTTTCAAAATGCCTGTCAAAGGATTTGATGCTCTGACTGATAAACTCACAAAGCACAGCCAAAGGATTTGTGATGGAATGCCTGTGTTTGTTTTTCTTATACTGAGCTTTTACACTTAAATCAAATGATTGCTTTGTCGTTTTCAAGAATTCCTTCAAGCCTGTTTTTTCCCATAGAGAGAAATCTTTCAGTGGAGGAGTTGTGATTATTGTGTAAGGTAGACGCATTTCAGGAATTGTTAAAGGAATGTTTAAGAAATCCAGATTTGCTTCTCCATTTATTCCTACATGGGCCTCCATAATGTTCTCGTTGTTTCCAGCAGAGAAATTTTGGTTGTACTTATACTGATTGAACCTAGCACTTACTTGCCAACTTGCTTGCTGGGCACTGGGACTCAGAAACAGTGCATAGTTATTCAGGAAGTCTATCTTCCCTGTTAACCTTAATGGAAAACGAACTTTCAAATTCCCTTCATTGTTTGTGGATGCCGTGATCTCAAATGGCTGGGCTGAAAAGAAAAGAGAATTTTTCAAAGTTCCAATAACCTTTCCATTTAAATGAGCATCATGCCTCCCAGTAAACTCTGCCTTCCCTTCTCCAAACAGTGCCATGCCTTTAGCAGTTAGAACACTGTGGCCCACATGCTGGGAATCGACTTGTGATTGAATTTCAAGTTTAGAAAAGTTGAGGGAGCCAGATTCATAAACCAAGTTTTGGTTTACTCTTAGGTGTTTGCTATTGATCTTATTGGACAGTCCAAAGGAAGTGAGGGGTCCTTCTATGGTGAAACTAATTTGTGATTCATGTGTTCCCTCATCTGAGAATCTGGGGCAGGCCCATTTCCATGACCCTTTTCCAGAAGAAGTCCATGCTATGTGGCCAGCTTTCAACAGTGTCTTGATCTCGTTGCGCAGGTCAGCCTGACTAGAGAAGTCCAGTTTGGGGATGTTCAATTTGTGGAAGTATTTAGTGTTGCTATCCAGGGTAAGCTGATTGTTTATCTTGACAATCACTCCATTACTAAGCTCCAGTGTATTTTTTTCTGTGTGTAAACTTGCCACTGTGTTTGATTTTCCCTCAATAGCATTTCCAAAAAACAGCATTTCACTCCCATGCTCCGTTCTCAGGTACTTGCTGGAGAACTTCACTGACTCCTTCAGAGCCAGCGGATTAATCTTAGGGTTTGAGAGTTGTGCATTTGCTTGAAAATCAAAATTGAGAACTTCTAATTTGGACTCTCCTTTGGCAGTGATGGAAGCTGCGATACCTGCTTCGTTTGCTGAGGTGGTTCCATTCCCTATGTCAGCATTTGCATCTAATGTGAAAAGAGGAGATTGGATTTTCAGAATACTGTATAGCTTGCCAAAAGTAGGTACTTCAATTGTGTGTGAGATGTGGGGAAGCTGGAATTCTGGTATGTGAAGGTCAGGAACTTGAAAATCATTAAGGTTGAGAGTTGGGATTATGAATTCTGGAATTGCGATTTCTGGTAAAC
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GGCTAACGTACCATCTTCGATTTTGTGTGTTCCCAAAACTGTATAGGAGAGATTTTGTATTTTATTAGATTCATAACAGTAGGACGTTGATGTTTTCATTGTGAAAACTGGGAGAATTCTATCCTAACCAGATATTTCACTTGTGTTTAAAATATGCAATGTACAGCTCACACTTATTTTAAAATAAATAGTTAAAAGACATTGTTAGTCCTAAAATAATTACAGAAAAATCCATTTTCTTTAAAGCTGTTTGTCTTGAATGACACTAGATTTTCTACAGTTTGGTTTTTACGTGTAGGGTATACATGTATCTCTTTTCTTACTTAAAATTTTGTGACATTGAGTAATTGTACATCTACTCACAACTAAATACATAATTATTTACTCATAACTCTCATTGAAAATATACAGTATCTAGGAGAGGAGGCAGGATATTTCTTACCATTTAGTTCATATTCTAGGAACTGTACGGTTGAGCTGCATGTGGAATCCAGGACTGTTTCAACATAATCTGCTTTGTTTTTCAAACTGGCACTCCAAGTGGCATTATACACGGGAGAGTCTACCTCAAAGCGTGCAGTCAGTGCTTGAAAGGAAGGAATGACAATTCCAGCAGGTACAGAGAACTTAATGGAGGGAATCTCAATGGTCTGCTCAGGCACGATGATGGTGGGCAACTCAAAGTCTGCGATCTTGTTGGCTACTGCATTTAGATCCAAAGCAGCAATGCCATCTGAAACACTTTTTGGAAGCGTGAACTGGGACACAGTTAACTGAGATTCAGGCACGGTTATCTCAAAAAAGGGAATCAAGGAGTCTTCTGGTTGAGAATATTTTGTTAACACATCAACTTCAGGGAATTTTACCTCGGGGAGTGTTGGTAGGTTGAGGGCAAATGATGAAGTTCTCAGCTTCTTATAGATTTGTATTTCTCTGAAGTCAAGTTTGCACGATGGAACCTGAAGATCTGTAAATGGGACATGGAACGTAGGCATGACAAGAACTGAATTTAGATCATTTAGTTTCAGCCCAGGAATAATGAATTTATCAGCCAAAACTTTTACAGGGATGGAGAATGAATAGCCATTGGGGTTTTTGGTGTACACAAAGGCAGTTGAAACACGAAGATGCTGTCTCCTACCAATGCTGGTGGTTACATCCAGCTTTAGGAAATCCCATAAGCTCTTGTCATAGACTGGTAGGATGATATTTTTGAGGAACCTTAGGTGTCCTTCTAAGGATCCTGCAATGTCAAGGTGTGCCTTTTCTTGGTCATTGGAAAGCTCGACCTGGCTCTGGAAAGACCCAGAATGAATCCGGACTTCATTTTTCCATCTGATCTTCTGGTTCTTAGTGTTAGCATTCAGGGCCACTTCCTGGCCAAGGTCAGGGAAATCATGGAAGGAACTGGGCTGACTTGCATGGACCTGAACAAGAGCTGACATTTGCCATGGAGAGAGTTCCAGGGTGGCTTTGCTTGTATGTTCTCCGTTGGTGAAAAAGAGGCCCTCTAGCTGTAAGTGGTTTTTCGTACTGTGCTCCCAGAGGGAATATATGCGTTGGAGTGTGGCTTCTCCAGCAAAATTTTCTTTTACTTCAAGGTTCCAGATATCATCAATTTTGGAAGTGCCCTGCAGCTTCACTGAAGACCGTGTGCTCTTGGAATTCAAGTAAGTGTTGGCCTCACTAGCAATAGTTCCTGAATATTCCCGAGAAAGAACCGAACCCTTGACATCTCCTTTGGTAGATGACTCAATGGAAAAGTAAGAGGTGAGGCTTTCCAAGCTAAGCTTGTGGTCAACTGCTCCTTTAGCGGTAGAGTACAGCATTGAAGAATTGAAATCATACTTAAATTCCATGGAGGAAGAGACAGTAGGTTTTGACTTGGTATTTCCATTAAGTTCTTGCTTGAAATTCATTCTCAAAATTGGAATTTGGGCTTTTGTGGTTGTTGCCACTGACACTTCCATATTTTTCGTGGTTAAGCTCACAGTACTGTTATGACTACCCTCCACAAATTTGTTGCTCAGAGACAGAGCTGTGGCTAAGTTCAATCCCCTTTTTCTTGTCAATCTTGTGGTGCCCTCTAATTTGTACTGCAGTGCATCAATGACAGATGAAGATGAAGAAAGGAGATGAGCAACAATATCTGACTGGTTAAAAAGTTCAGCATTGGTATTCAGTGTGATGACACTTGATTTAAAGGAGAAATCATAGGTAATATTGCCCATGGCAGGAATAAAAATATGGCTTATGGTACACAATTCCTTGAAATCTGGAAGAGAAAGCTTGAGATTTCTAGGGACATGAAGGACTGGCAGCTCTAATGATGGCAGGATTAATGTGTATGAAGGCACACGGACGTCAGAACCTAGGATGGAGAAACTAGGCATGCTGACTGCTTTTGGGAACACATAGCCGAATGCCGACATCTCTATGGTGAATGGAGACACTTCAACATTGACAACTGGAACAGTGTATCCAGGAATTTGAAAGGTCCTGGGGAGCTCGTCGTGAGATTTTTCAGCTTTGTACTTATCAAACTTAATTTTTGTTTCATTATAGGATTTGGTGACAAAATCTAATGCATTGTTTCTGTTTTTTTCAAAATGCCTGTCAAAGGATTTGATGCTCTGACTGATAAACTCACAAAGCACAGCCAAAGGATTTGTGATGGAATGCCTGTGTTTGTTTTTCTTATACTGAGCTTTTACACTTAAATCAAATGATTGCTTTGTCGTTTTCAAGAATTCCTTCAAGCCTGTTTTTTCCCATAGAGAGAAATCTTTCAGTGGAGGAGTTGTGATTATTGTGTAAGGTAGACGCATTTCAGGAATTGTTAAAGGAATGTTTAAGAAATCCAGATTTGCTTCTCCATTTATTCCTACATGGGCCTCCATAATGTTCTCGTTGTTTCCAGCAGAGAAATTTTGGTTGTACTTATACTGATTGAACCTAGCACTTACTTGCCAACTTGCTTGCTGGGCACTGGGACTCAGAAACAGTGCATAGTTATTCAGGAAGTCTATCTTCCCTGTTAACCTTAATGGAAAACGAACTTTCAAATTCCCTTCATTGTTTGTGGATGCCGTGATCTCAAATGGCTGGGCTGAAAAGAAAAGAGAATTTTTCAAAGTTCCAATAACCTTTCCATTTAAATGAGCATCATGCCTCCCAGTAAACTCTGCCTTCCCTTCTCCAAACAGTGCCATGCCTTTAGCAGTTAGAACACTGTGGCCCACATGCTGGGAATCGACTTGTGATTGAATTTCAAGTTTAGAAAAGTTGAGGGAGCCAGATTCATAAACCAAGTTTTGGTTTACTCTTAGGTGTTTGCTATTGATCTTATTGGACAGTCCAAAGGAAGTGAGGGGTCCTTCTATGGTGAAACTAATTTGTGATTCATGTGTTCCCTCATCTGAGAATCTGGGGCAGGCCCATTTCCATGACCCTTTTCCAGAAGAAGTCCATGCTATGTGGCCAGCTTTCAACAGTGTCTTGATCTCGTTGCGCAGGTCAGCCTGACTAGAGAAGTCCAGTTTGGGGATGTTCAATTTGTGGAAGTATTTAGTGTTGCTATCCAGGGTAAGCTGATTGTTTATCTTGACAATCACTCCATTACTAAGCTCCAGTGTATTTTTTTCTGTGTGTAAACTTGCCACTGTGTTTGATTTTCCCTCAATAGCATTTCCAAAAAACAGCATTTCACTCCCATGCTCCGTTCTCAGGTACTTGCTGGAGAACTTCACTGACTCCTTCAGAGCCAGCGGATTAATCTTAGGGTTTGAGAGTTGTGCATTTGCTTGAAAATCAAAATTGAGAACTTCTAATTTGGACTCTCCTTTGGCAGTGATGGAAGCTGCGATACCTGCTTCGTTTGCTGAGGTGGTTCCATTCCCTATGTCAGCATTTGCATCTAATGTGAAAAGAGGAGATTGGATTTTCAGAATACTGTATAGCTTGCCAAAAGTAGGTACTTCAATTGTGTGTGAGATGTGGGGAAGCTGGAATTCTGGTATGTGAAGGTCAGGAACTTGAAAATCATTAAGGTTGAGAGTTGGGATTATGAATTCTGGAATTGCGATTTCTGGTAAAC
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Task1_train_3144
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This mutation occurs in APOB (apolipoprotein B) on Chromosome 2. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; APOB-related disorder
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TCCAAAGGCAGTGAGGGTAGTTTTCAGCATGCTTTCTTTAGGAAGGTAGTTATTTGGATCAAATATAAGATTCCCTTCTATTTTGGCTGAGGCTGGGTCAAGTGATGGAAGAGAAACAGATTTGTAGAGTTGATAGTTCCGAGAGAATTTTCTGAAGTCCATGACAGTTGGAAGTTGAGATTCTTTCAGAGCTTCTTTCACTAACTTTTTCAGACTAGATAAGAAGAAGTATATTTTGAGCTGACACACCATGTTATTATCCTTTGACTCTTGCACCCCAAGTAAATATGGATTTCCAATCACTACCAAAATGTCTTGATTTCATTGACCCTAAGTCTTTGGGTCTAGATCTGCTACACATTTGCACAAGTGTTTGTTTCAGAAGCAAGGGCAGACAGTGGCTATGCCAAAACCTAGGGTTGGAATTCCAGCTCAGGGCCCTCAGTGGTATATGGGGTGAATAGCTCTTACTTACTCTTGGATATCCAATTCTTCTGAGTTCAAGATATTGGCAATATGGGAAGCCACAAAGTTCTTCACTTGCTCATTCTGTTCCCATGGTAGAATTTGGACAATTTTGTTAATATCTGCCTGTGAAGGACTCCTCATCAACATAAGATAGGCAGCCAGTCGCTTATCTCCCGGAGAAGCATCATCAAGGAAAGTCTGAAGAAGAACCTCCTGGTCCTGCAGTCAAAAGAGGAGATGGTTATCACTGTCCTGTGGTCAGAACACAGAACATGCCTGGCAAACACTGGCATTGTCTGCTAGCTCTTTCTTAAGCACAGGTCTAATTTCTCTGTAATCGTTCTTCAAATGCTGGTATTGAATCTTCTTGCCAGTGTTTCCTAGAGCACTATCAAGTAAGGGTTCCCAGAAAAAGCCTGTGGAATGCCTGTTGAATTCAATTCCATTAAAACACATAAATTATGGCCAAGTTGTGATTTGTTTGGAGATCCACCACTAAGTGAAAATCAAGTTGTTTTAACGTAAGTTATTTTAATGTGAGGATAAAGATGAGAAGGGGTAGTAAGAGTTTGGGGCTAATAAATAGGGTAGTTTCCAAAGTTCTGGAGTCTTTGCACCTAAGAGGGGGCCAAGTTGGCTATCCTAGCCTAAGCTTATTGGGGGAAAATTAAGCATGTTTTTCCATGATGAGAGGGATGGTCAATCTGGTAGGTGGACGGTAGGAAGCAAAAACATCTCACGTTCTGCATGTTGACATAGCAGCAAAGTCAAGTATTTCTCTCACGTCACATACTGCTAGGCAGTCAAGTCAATAGGCTTGTTGAAATTTGCAATTAGAAAACAGTAGAGGCCAGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGCAAGGCTGAGGCAGGCGGATCACCTGAGGTCAGGAGCTCAAGACCAGCCTGGCCAACATGGCAAAACTCCATCTCTACTAAAAAATACAAAAATTAGCTGGGTGTAATGGCACATGCCTGTAATCCCAGTTACTCAGGAGGCTGAGGCAGAGAGAATTGCTTGAACCCAGGAGGCAGAAGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCAATAGAGTGAGATTCCATCTCGAAAGAAGGAAGGAAGGAAGGAAAGAAGAAAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAAGAAACAGCAGAATAAAGTCAGTAGATGAAATCTAGAGTCTCATTCCCCTAGTACCTTCCAAATCCTTGTTAATAAACTTTCACTTTCAGACCTCTTCTTGTGGACTTTACCTTGTCTTTAGGCTCCATTTTCCGCAGAGCCTGGATGGCAGCTTTCTGGATCATCAGTGATGGCTTTGTACTTTGGACACATTTCAGGATTGAAGACTTGAGTTCTGGAGTTAACTGCTCCATGGTTTGGCCCATATTTCCAATGACCTGCATTGAAGAAAAGAAACAAGAACCCATCAGGGTGCAGGAGAGGGAAGTAAAAGGTGTCCAGGAAAAGTGCTTCTGAAATGATGTATGTCATATAAAAGACTGAGATTACCCGCAGAATCAAATAGGTGTAATCTTCATCCCCAGTGCAGTCATCTTGAATCTGTTCCATCAGGTAATTAGCAATGTCCAGCAGCTCCTGGGTCCCTGTAGGGTTTGTCTTATGATAGCTACAGAATAAGAGAAGAGAGTCAGGACTTGGTAACCCCAGTTAGGTTTGTCTTAAAACCCAAACTTGTGAATTAGAAAAAATAATTATAAAATTCATATGGAATCCAAAAAGAGCCTGAATAGCTGAAGCAATTTTAAGCAAAAAGAACATAGCTGGAGGCATCACATTACCTGACTTCAGATTATACAACAAGGCTATAGTAATCTAAACAGCATGGTACTGGCATAAAAATAGACACATAGATCAATGGAACAGAATACTGAACCCAGAAATAAAGTCACATACTTACAGTCAACGGATCTTTGACAAAATTGACAAAAACATACACTAGGGAAAGGACACCCTTTTCAATAAGTGGTGCTGGGAAAGATGGATTGCCATATGCAGAAGAATAAAACTGGACTCCTATCTGTCACCATATAAAAAAATCAACTCAAGATGGATCAAAGACTTAAATATAAGACCTGAGACTATAAAAATGCAAGAAGAAAACCTAGGGAAAACTTCTCTGGACATTGGCCTAGACAAAGAATTCGTGAATAAGACCTCAAAGGCAAAGACAACAAAAACAAAAAATAGACAAATAGAACTTAATTAAAGTAAAAAGTTTCTGCACAGTAAAACAAATAATCAACAGGGTGGTAACCTGCAGAATGGGAGAAAATATTTGCAAACTATTCATCCAATGGGGTACTAATATCCGGAATGTACAAGCAATTCAAACAACTCAACAAAAAAATCCCCCAAATAATCCCATTAAAAAGTAGGCAAAGGACATGAATAGACATTTTTTTCAAAAGAAGACATACAAATGGCAATAGGCATATGAAAAAATGCATAACATTACTAATCATTAGAGAAATGTAAATTAAAACCACAATGAGATAACATCTTACAAGAGTCAGGAGGGCCATTATTCAAAAGACAAAAAATAACAGTTGTTGGTGAGGATACAGAGAAAAGGAAACAGTTAATCACTGTTGATGGGATTGTAAATAAGTACAACCACTATGGAAAACAATACAGAGATTTCTCAAAGAACTAAAAATAGAACTACCAATAAATCCAACAATCCCATTACTGGGTATATACCTAAAGGAAAAGAAATCATTATATCCAAAGGAAACCTGCACCCATATGTTTATCACAGCACTATTCACAATAGCAAAGACATGGAATCAACCTAAGTGTCTATCAATGGACGATTGGATTAAAAATGTGAAATGTATAGGCAATAAAATACTATTCGGCCATAAAAAGAATAAAATCATGTCATTTGCAGCAACATGGATGGAACTGGAGGTCATTGTCTTAAGTGAAACAGGACAGTCACAGAAAGACAAATATTGCGTGTTGTCATTTATAAGTGGGAGTGAAATAATGTGCACACAAGGACATAGTGTGTGGAATGATAGACAATTGAGACTCAGAAGGTGTGGAAGTGGAGGGAGATGGATGGTGAGAAATTACTTAGTGGGTACACTATATGTTGTCTGGGTGATGGATACCCTGAAAGCCCTGACTTAACTACTGCACAATCTATTCATGTAACAAAATTACACTTGTTCCACATAAATTTATATAAAAATGTAAAAAAGAAAAAGCCAAAAAATTTCATCAAAGGAAAAACCTGCTAGCCTGAGCAACATGGTGAAACCCTGTATCTACCAAGAATACAAAAATTAGCCAGGGCATGGTAGCATGCACCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTCAGCCCAGGAATTTGAGGCTTCAGTGAGCCGTGACTGCATCACTGCACTCCAGCCTGGGTGACACAGTGAGACCATCTCAAAAAAACAACAACAACAAAAAAAAACAAAACAAACAAACAAAAAAATTCAGAGGAAAAAACTGCTAACTAATATTGAACTGAAGTTAATAATATGCAAG
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TCCAAAGGCAGTGAGGGTAGTTTTCAGCATGCTTTCTTTAGGAAGGTAGTTATTTGGATCAAATATAAGATTCCCTTCTATTTTGGCTGAGGCTGGGTCAAGTGATGGAAGAGAAACAGATTTGTAGAGTTGATAGTTCCGAGAGAATTTTCTGAAGTCCATGACAGTTGGAAGTTGAGATTCTTTCAGAGCTTCTTTCACTAACTTTTTCAGACTAGATAAGAAGAAGTATATTTTGAGCTGACACACCATGTTATTATCCTTTGACTCTTGCACCCCAAGTAAATATGGATTTCCAATCACTACCAAAATGTCTTGATTTCATTGACCCTAAGTCTTTGGGTCTAGATCTGCTACACATTTGCACAAGTGTTTGTTTCAGAAGCAAGGGCAGACAGTGGCTATGCCAAAACCTAGGGTTGGAATTCCAGCTCAGGGCCCTCAGTGGTATATGGGGTGAATAGCTCTTACTTACTCTTGGATATCCAATTCTTCTGAGTTCAAGATATTGGCAATATGGGAAGCCACAAAGTTCTTCACTTGCTCATTCTGTTCCCATGGTAGAATTTGGACAATTTTGTTAATATCTGCCTGTGAAGGACTCCTCATCAACATAAGATAGGCAGCCAGTCGCTTATCTCCCGGAGAAGCATCATCAAGGAAAGTCTGAAGAAGAACCTCCTGGTCCTGCAGTCAAAAGAGGAGATGGTTATCACTGTCCTGTGGTCAGAACACAGAACATGCCTGGCAAACACTGGCATTGTCTGCTAGCTCTTTCTTAAGCACAGGTCTAATTTCTCTGTAATCGTTCTTCAAATGCTGGTATTGAATCTTCTTGCCAGTGTTTCCTAGAGCACTATCAAGTAAGGGTTCCCAGAAAAAGCCTGTGGAATGCCTGTTGAATTCAATTCCATTAAAACACATAAATTATGGCCAAGTTGTGATTTGTTTGGAGATCCACCACTAAGTGAAAATCAAGTTGTTTTAACGTAAGTTATTTTAATGTGAGGATAAAGATGAGAAGGGGTAGTAAGAGTTTGGGGCTAATAAATAGGGTAGTTTCCAAAGTTCTGGAGTCTTTGCACCTAAGAGGGGGCCAAGTTGGCTATCCTAGCCTAAGCTTATTGGGGGAAAATTAAGCATGTTTTTCCATGATGAGAGGGATGGTCAATCTGGTAGGTGGACGGTAGGAAGCAAAAACATCTCACGTTCTGCATGTTGACATAGCAGCAAAGTCAAGTATTTCTCTCACGTCACATACTGCTAGGCAGTCAAGTCAATAGGCTTGTTGAAATTTGCAATTAGAAAACAGTAGAGGCCAGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGCAAGGCTGAGGCAGGCGGATCACCTGAGGTCAGGAGCTCAAGACCAGCCTGGCCAACATGGCAAAACTCCATCTCTACTAAAAAATACAAAAATTAGCTGGGTGTAATGGCACATGCCTGTAATCCCAGTTACTCAGGAGGCTGAGGCAGAGAGAATTGCTTGAACCCAGGAGGCAGAAGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCAATAGAGTGAGATTCCATCTCGAAAGAAGGAAGGAAGGAAGGAAAGAAGAAAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAAGAAACAGCAGAATAAAGTCAGTAGATGAAATCTAGAGTCTCATTCCCCTAGTACCTTCCAAATCCTTGTTAATAAACTTTCACTTTCAGACCTCTTCTTGTGGACTTTACCTTGTCTTTAGGCTCCATTTTCCGCAGAGCCTGGATGGCAGCTTTCTGGATCATCAGTGATGGCTTTGTACTTTGGACACATTTCAGGATTGAAGACTTGAGTTCTGGAGTTAACTGCTCCATGGTTTGGCCCATATTTCCAATGACCTGCATTGAAGAAAAGAAACAAGAACCCATCAGGGTGCAGGAGAGGGAAGTAAAAGGTGTCCAGGAAAAGTGCTTCTGAAATGATGTATGTCATATAAAAGACTGAGATTACCCACAGAATCAAATAGGTGTAATCTTCATCCCCAGTGCAGTCATCTTGAATCTGTTCCATCAGGTAATTAGCAATGTCCAGCAGCTCCTGGGTCCCTGTAGGGTTTGTCTTATGATAGCTACAGAATAAGAGAAGAGAGTCAGGACTTGGTAACCCCAGTTAGGTTTGTCTTAAAACCCAAACTTGTGAATTAGAAAAAATAATTATAAAATTCATATGGAATCCAAAAAGAGCCTGAATAGCTGAAGCAATTTTAAGCAAAAAGAACATAGCTGGAGGCATCACATTACCTGACTTCAGATTATACAACAAGGCTATAGTAATCTAAACAGCATGGTACTGGCATAAAAATAGACACATAGATCAATGGAACAGAATACTGAACCCAGAAATAAAGTCACATACTTACAGTCAACGGATCTTTGACAAAATTGACAAAAACATACACTAGGGAAAGGACACCCTTTTCAATAAGTGGTGCTGGGAAAGATGGATTGCCATATGCAGAAGAATAAAACTGGACTCCTATCTGTCACCATATAAAAAAATCAACTCAAGATGGATCAAAGACTTAAATATAAGACCTGAGACTATAAAAATGCAAGAAGAAAACCTAGGGAAAACTTCTCTGGACATTGGCCTAGACAAAGAATTCGTGAATAAGACCTCAAAGGCAAAGACAACAAAAACAAAAAATAGACAAATAGAACTTAATTAAAGTAAAAAGTTTCTGCACAGTAAAACAAATAATCAACAGGGTGGTAACCTGCAGAATGGGAGAAAATATTTGCAAACTATTCATCCAATGGGGTACTAATATCCGGAATGTACAAGCAATTCAAACAACTCAACAAAAAAATCCCCCAAATAATCCCATTAAAAAGTAGGCAAAGGACATGAATAGACATTTTTTTCAAAAGAAGACATACAAATGGCAATAGGCATATGAAAAAATGCATAACATTACTAATCATTAGAGAAATGTAAATTAAAACCACAATGAGATAACATCTTACAAGAGTCAGGAGGGCCATTATTCAAAAGACAAAAAATAACAGTTGTTGGTGAGGATACAGAGAAAAGGAAACAGTTAATCACTGTTGATGGGATTGTAAATAAGTACAACCACTATGGAAAACAATACAGAGATTTCTCAAAGAACTAAAAATAGAACTACCAATAAATCCAACAATCCCATTACTGGGTATATACCTAAAGGAAAAGAAATCATTATATCCAAAGGAAACCTGCACCCATATGTTTATCACAGCACTATTCACAATAGCAAAGACATGGAATCAACCTAAGTGTCTATCAATGGACGATTGGATTAAAAATGTGAAATGTATAGGCAATAAAATACTATTCGGCCATAAAAAGAATAAAATCATGTCATTTGCAGCAACATGGATGGAACTGGAGGTCATTGTCTTAAGTGAAACAGGACAGTCACAGAAAGACAAATATTGCGTGTTGTCATTTATAAGTGGGAGTGAAATAATGTGCACACAAGGACATAGTGTGTGGAATGATAGACAATTGAGACTCAGAAGGTGTGGAAGTGGAGGGAGATGGATGGTGAGAAATTACTTAGTGGGTACACTATATGTTGTCTGGGTGATGGATACCCTGAAAGCCCTGACTTAACTACTGCACAATCTATTCATGTAACAAAATTACACTTGTTCCACATAAATTTATATAAAAATGTAAAAAAGAAAAAGCCAAAAAATTTCATCAAAGGAAAAACCTGCTAGCCTGAGCAACATGGTGAAACCCTGTATCTACCAAGAATACAAAAATTAGCCAGGGCATGGTAGCATGCACCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTCAGCCCAGGAATTTGAGGCTTCAGTGAGCCGTGACTGCATCACTGCACTCCAGCCTGGGTGACACAGTGAGACCATCTCAAAAAAACAACAACAACAAAAAAAAACAAAACAAACAAACAAAAAAATTCAGAGGAAAAAACTGCTAACTAATATTGAACTGAAGTTAATAATATGCAAG
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Task1_train_3145
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This alteration in APOB (apolipoprotein B) on Chromosome 2 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Hypercholesterolemia, autosomal dominant, type B
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TCCAAAGGCAGTGAGGGTAGTTTTCAGCATGCTTTCTTTAGGAAGGTAGTTATTTGGATCAAATATAAGATTCCCTTCTATTTTGGCTGAGGCTGGGTCAAGTGATGGAAGAGAAACAGATTTGTAGAGTTGATAGTTCCGAGAGAATTTTCTGAAGTCCATGACAGTTGGAAGTTGAGATTCTTTCAGAGCTTCTTTCACTAACTTTTTCAGACTAGATAAGAAGAAGTATATTTTGAGCTGACACACCATGTTATTATCCTTTGACTCTTGCACCCCAAGTAAATATGGATTTCCAATCACTACCAAAATGTCTTGATTTCATTGACCCTAAGTCTTTGGGTCTAGATCTGCTACACATTTGCACAAGTGTTTGTTTCAGAAGCAAGGGCAGACAGTGGCTATGCCAAAACCTAGGGTTGGAATTCCAGCTCAGGGCCCTCAGTGGTATATGGGGTGAATAGCTCTTACTTACTCTTGGATATCCAATTCTTCTGAGTTCAAGATATTGGCAATATGGGAAGCCACAAAGTTCTTCACTTGCTCATTCTGTTCCCATGGTAGAATTTGGACAATTTTGTTAATATCTGCCTGTGAAGGACTCCTCATCAACATAAGATAGGCAGCCAGTCGCTTATCTCCCGGAGAAGCATCATCAAGGAAAGTCTGAAGAAGAACCTCCTGGTCCTGCAGTCAAAAGAGGAGATGGTTATCACTGTCCTGTGGTCAGAACACAGAACATGCCTGGCAAACACTGGCATTGTCTGCTAGCTCTTTCTTAAGCACAGGTCTAATTTCTCTGTAATCGTTCTTCAAATGCTGGTATTGAATCTTCTTGCCAGTGTTTCCTAGAGCACTATCAAGTAAGGGTTCCCAGAAAAAGCCTGTGGAATGCCTGTTGAATTCAATTCCATTAAAACACATAAATTATGGCCAAGTTGTGATTTGTTTGGAGATCCACCACTAAGTGAAAATCAAGTTGTTTTAACGTAAGTTATTTTAATGTGAGGATAAAGATGAGAAGGGGTAGTAAGAGTTTGGGGCTAATAAATAGGGTAGTTTCCAAAGTTCTGGAGTCTTTGCACCTAAGAGGGGGCCAAGTTGGCTATCCTAGCCTAAGCTTATTGGGGGAAAATTAAGCATGTTTTTCCATGATGAGAGGGATGGTCAATCTGGTAGGTGGACGGTAGGAAGCAAAAACATCTCACGTTCTGCATGTTGACATAGCAGCAAAGTCAAGTATTTCTCTCACGTCACATACTGCTAGGCAGTCAAGTCAATAGGCTTGTTGAAATTTGCAATTAGAAAACAGTAGAGGCCAGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGCAAGGCTGAGGCAGGCGGATCACCTGAGGTCAGGAGCTCAAGACCAGCCTGGCCAACATGGCAAAACTCCATCTCTACTAAAAAATACAAAAATTAGCTGGGTGTAATGGCACATGCCTGTAATCCCAGTTACTCAGGAGGCTGAGGCAGAGAGAATTGCTTGAACCCAGGAGGCAGAAGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCAATAGAGTGAGATTCCATCTCGAAAGAAGGAAGGAAGGAAGGAAAGAAGAAAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAAGAAACAGCAGAATAAAGTCAGTAGATGAAATCTAGAGTCTCATTCCCCTAGTACCTTCCAAATCCTTGTTAATAAACTTTCACTTTCAGACCTCTTCTTGTGGACTTTACCTTGTCTTTAGGCTCCATTTTCCGCAGAGCCTGGATGGCAGCTTTCTGGATCATCAGTGATGGCTTTGTACTTTGGACACATTTCAGGATTGAAGACTTGAGTTCTGGAGTTAACTGCTCCATGGTTTGGCCCATATTTCCAATGACCTGCATTGAAGAAAAGAAACAAGAACCCATCAGGGTGCAGGAGAGGGAAGTAAAAGGTGTCCAGGAAAAGTGCTTCTGAAATGATGTATGTCATATAAAAGACTGAGATTACCCGCAGAATCAAATAGGTGTAATCTTCATCCCCAGTGCAGTCATCTTGAATCTGTTCCATCAGGTAATTAGCAATGTCCAGCAGCTCCTGGGTCCCTGTAGGGTTTGTCTTATGATAGCTACAGAATAAGAGAAGAGAGTCAGGACTTGGTAACCCCAGTTAGGTTTGTCTTAAAACCCAAACTTGTGAATTAGAAAAAATAATTATAAAATTCATATGGAATCCAAAAAGAGCCTGAATAGCTGAAGCAATTTTAAGCAAAAAGAACATAGCTGGAGGCATCACATTACCTGACTTCAGATTATACAACAAGGCTATAGTAATCTAAACAGCATGGTACTGGCATAAAAATAGACACATAGATCAATGGAACAGAATACTGAACCCAGAAATAAAGTCACATACTTACAGTCAACGGATCTTTGACAAAATTGACAAAAACATACACTAGGGAAAGGACACCCTTTTCAATAAGTGGTGCTGGGAAAGATGGATTGCCATATGCAGAAGAATAAAACTGGACTCCTATCTGTCACCATATAAAAAAATCAACTCAAGATGGATCAAAGACTTAAATATAAGACCTGAGACTATAAAAATGCAAGAAGAAAACCTAGGGAAAACTTCTCTGGACATTGGCCTAGACAAAGAATTCGTGAATAAGACCTCAAAGGCAAAGACAACAAAAACAAAAAATAGACAAATAGAACTTAATTAAAGTAAAAAGTTTCTGCACAGTAAAACAAATAATCAACAGGGTGGTAACCTGCAGAATGGGAGAAAATATTTGCAAACTATTCATCCAATGGGGTACTAATATCCGGAATGTACAAGCAATTCAAACAACTCAACAAAAAAATCCCCCAAATAATCCCATTAAAAAGTAGGCAAAGGACATGAATAGACATTTTTTTCAAAAGAAGACATACAAATGGCAATAGGCATATGAAAAAATGCATAACATTACTAATCATTAGAGAAATGTAAATTAAAACCACAATGAGATAACATCTTACAAGAGTCAGGAGGGCCATTATTCAAAAGACAAAAAATAACAGTTGTTGGTGAGGATACAGAGAAAAGGAAACAGTTAATCACTGTTGATGGGATTGTAAATAAGTACAACCACTATGGAAAACAATACAGAGATTTCTCAAAGAACTAAAAATAGAACTACCAATAAATCCAACAATCCCATTACTGGGTATATACCTAAAGGAAAAGAAATCATTATATCCAAAGGAAACCTGCACCCATATGTTTATCACAGCACTATTCACAATAGCAAAGACATGGAATCAACCTAAGTGTCTATCAATGGACGATTGGATTAAAAATGTGAAATGTATAGGCAATAAAATACTATTCGGCCATAAAAAGAATAAAATCATGTCATTTGCAGCAACATGGATGGAACTGGAGGTCATTGTCTTAAGTGAAACAGGACAGTCACAGAAAGACAAATATTGCGTGTTGTCATTTATAAGTGGGAGTGAAATAATGTGCACACAAGGACATAGTGTGTGGAATGATAGACAATTGAGACTCAGAAGGTGTGGAAGTGGAGGGAGATGGATGGTGAGAAATTACTTAGTGGGTACACTATATGTTGTCTGGGTGATGGATACCCTGAAAGCCCTGACTTAACTACTGCACAATCTATTCATGTAACAAAATTACACTTGTTCCACATAAATTTATATAAAAATGTAAAAAAGAAAAAGCCAAAAAATTTCATCAAAGGAAAAACCTGCTAGCCTGAGCAACATGGTGAAACCCTGTATCTACCAAGAATACAAAAATTAGCCAGGGCATGGTAGCATGCACCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTCAGCCCAGGAATTTGAGGCTTCAGTGAGCCGTGACTGCATCACTGCACTCCAGCCTGGGTGACACAGTGAGACCATCTCAAAAAAACAACAACAACAAAAAAAAACAAAACAAACAAACAAAAAAATTCAGAGGAAAAAACTGCTAACTAATATTGAACTGAAGTTAATAATATGCAAG
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TCCAAAGGCAGTGAGGGTAGTTTTCAGCATGCTTTCTTTAGGAAGGTAGTTATTTGGATCAAATATAAGATTCCCTTCTATTTTGGCTGAGGCTGGGTCAAGTGATGGAAGAGAAACAGATTTGTAGAGTTGATAGTTCCGAGAGAATTTTCTGAAGTCCATGACAGTTGGAAGTTGAGATTCTTTCAGAGCTTCTTTCACTAACTTTTTCAGACTAGATAAGAAGAAGTATATTTTGAGCTGACACACCATGTTATTATCCTTTGACTCTTGCACCCCAAGTAAATATGGATTTCCAATCACTACCAAAATGTCTTGATTTCATTGACCCTAAGTCTTTGGGTCTAGATCTGCTACACATTTGCACAAGTGTTTGTTTCAGAAGCAAGGGCAGACAGTGGCTATGCCAAAACCTAGGGTTGGAATTCCAGCTCAGGGCCCTCAGTGGTATATGGGGTGAATAGCTCTTACTTACTCTTGGATATCCAATTCTTCTGAGTTCAAGATATTGGCAATATGGGAAGCCACAAAGTTCTTCACTTGCTCATTCTGTTCCCATGGTAGAATTTGGACAATTTTGTTAATATCTGCCTGTGAAGGACTCCTCATCAACATAAGATAGGCAGCCAGTCGCTTATCTCCCGGAGAAGCATCATCAAGGAAAGTCTGAAGAAGAACCTCCTGGTCCTGCAGTCAAAAGAGGAGATGGTTATCACTGTCCTGTGGTCAGAACACAGAACATGCCTGGCAAACACTGGCATTGTCTGCTAGCTCTTTCTTAAGCACAGGTCTAATTTCTCTGTAATCGTTCTTCAAATGCTGGTATTGAATCTTCTTGCCAGTGTTTCCTAGAGCACTATCAAGTAAGGGTTCCCAGAAAAAGCCTGTGGAATGCCTGTTGAATTCAATTCCATTAAAACACATAAATTATGGCCAAGTTGTGATTTGTTTGGAGATCCACCACTAAGTGAAAATCAAGTTGTTTTAACGTAAGTTATTTTAATGTGAGGATAAAGATGAGAAGGGGTAGTAAGAGTTTGGGGCTAATAAATAGGGTAGTTTCCAAAGTTCTGGAGTCTTTGCACCTAAGAGGGGGCCAAGTTGGCTATCCTAGCCTAAGCTTATTGGGGGAAAATTAAGCATGTTTTTCCATGATGAGAGGGATGGTCAATCTGGTAGGTGGACGGTAGGAAGCAAAAACATCTCACGTTCTGCATGTTGACATAGCAGCAAAGTCAAGTATTTCTCTCACGTCACATACTGCTAGGCAGTCAAGTCAATAGGCTTGTTGAAATTTGCAATTAGAAAACAGTAGAGGCCAGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGCAAGGCTGAGGCAGGCGGATCACCTGAGGTCAGGAGCTCAAGACCAGCCTGGCCAACATGGCAAAACTCCATCTCTACTAAAAAATACAAAAATTAGCTGGGTGTAATGGCACATGCCTGTAATCCCAGTTACTCAGGAGGCTGAGGCAGAGAGAATTGCTTGAACCCAGGAGGCAGAAGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCAATAGAGTGAGATTCCATCTCGAAAGAAGGAAGGAAGGAAGGAAAGAAGAAAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAAGAAACAGCAGAATAAAGTCAGTAGATGAAATCTAGAGTCTCATTCCCCTAGTACCTTCCAAATCCTTGTTAATAAACTTTCACTTTCAGACCTCTTCTTGTGGACTTTACCTTGTCTTTAGGCTCCATTTTCCGCAGAGCCTGGATGGCAGCTTTCTGGATCATCAGTGATGGCTTTGTACTTTGGACACATTTCAGGATTGAAGACTTGAGTTCTGGAGTTAACTGCTCCATGGTTTGGCCCATATTTCCAATGACCTGCATTGAAGAAAAGAAACAAGAACCCATCAGGGTGCAGGAGAGGGAAGTAAAAGGTGTCCAGGAAAAGTGCTTCTGAAATGATGTATGTCATATAAAAGACTGAGATTACCCACAGAATCAAATAGGTGTAATCTTCATCCCCAGTGCAGTCATCTTGAATCTGTTCCATCAGGTAATTAGCAATGTCCAGCAGCTCCTGGGTCCCTGTAGGGTTTGTCTTATGATAGCTACAGAATAAGAGAAGAGAGTCAGGACTTGGTAACCCCAGTTAGGTTTGTCTTAAAACCCAAACTTGTGAATTAGAAAAAATAATTATAAAATTCATATGGAATCCAAAAAGAGCCTGAATAGCTGAAGCAATTTTAAGCAAAAAGAACATAGCTGGAGGCATCACATTACCTGACTTCAGATTATACAACAAGGCTATAGTAATCTAAACAGCATGGTACTGGCATAAAAATAGACACATAGATCAATGGAACAGAATACTGAACCCAGAAATAAAGTCACATACTTACAGTCAACGGATCTTTGACAAAATTGACAAAAACATACACTAGGGAAAGGACACCCTTTTCAATAAGTGGTGCTGGGAAAGATGGATTGCCATATGCAGAAGAATAAAACTGGACTCCTATCTGTCACCATATAAAAAAATCAACTCAAGATGGATCAAAGACTTAAATATAAGACCTGAGACTATAAAAATGCAAGAAGAAAACCTAGGGAAAACTTCTCTGGACATTGGCCTAGACAAAGAATTCGTGAATAAGACCTCAAAGGCAAAGACAACAAAAACAAAAAATAGACAAATAGAACTTAATTAAAGTAAAAAGTTTCTGCACAGTAAAACAAATAATCAACAGGGTGGTAACCTGCAGAATGGGAGAAAATATTTGCAAACTATTCATCCAATGGGGTACTAATATCCGGAATGTACAAGCAATTCAAACAACTCAACAAAAAAATCCCCCAAATAATCCCATTAAAAAGTAGGCAAAGGACATGAATAGACATTTTTTTCAAAAGAAGACATACAAATGGCAATAGGCATATGAAAAAATGCATAACATTACTAATCATTAGAGAAATGTAAATTAAAACCACAATGAGATAACATCTTACAAGAGTCAGGAGGGCCATTATTCAAAAGACAAAAAATAACAGTTGTTGGTGAGGATACAGAGAAAAGGAAACAGTTAATCACTGTTGATGGGATTGTAAATAAGTACAACCACTATGGAAAACAATACAGAGATTTCTCAAAGAACTAAAAATAGAACTACCAATAAATCCAACAATCCCATTACTGGGTATATACCTAAAGGAAAAGAAATCATTATATCCAAAGGAAACCTGCACCCATATGTTTATCACAGCACTATTCACAATAGCAAAGACATGGAATCAACCTAAGTGTCTATCAATGGACGATTGGATTAAAAATGTGAAATGTATAGGCAATAAAATACTATTCGGCCATAAAAAGAATAAAATCATGTCATTTGCAGCAACATGGATGGAACTGGAGGTCATTGTCTTAAGTGAAACAGGACAGTCACAGAAAGACAAATATTGCGTGTTGTCATTTATAAGTGGGAGTGAAATAATGTGCACACAAGGACATAGTGTGTGGAATGATAGACAATTGAGACTCAGAAGGTGTGGAAGTGGAGGGAGATGGATGGTGAGAAATTACTTAGTGGGTACACTATATGTTGTCTGGGTGATGGATACCCTGAAAGCCCTGACTTAACTACTGCACAATCTATTCATGTAACAAAATTACACTTGTTCCACATAAATTTATATAAAAATGTAAAAAAGAAAAAGCCAAAAAATTTCATCAAAGGAAAAACCTGCTAGCCTGAGCAACATGGTGAAACCCTGTATCTACCAAGAATACAAAAATTAGCCAGGGCATGGTAGCATGCACCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTCAGCCCAGGAATTTGAGGCTTCAGTGAGCCGTGACTGCATCACTGCACTCCAGCCTGGGTGACACAGTGAGACCATCTCAAAAAAACAACAACAACAAAAAAAAACAAAACAAACAAACAAAAAAATTCAGAGGAAAAAACTGCTAACTAATATTGAACTGAAGTTAATAATATGCAAG
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Task1_train_3146
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This variant affects gene APOB (apolipoprotein B) located on Chromosome 2. Evaluate its biological effect and specify any disease association.
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Pathogenic; Hypercholesterolemia, autosomal dominant, type B
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TCCAAAGGCAGTGAGGGTAGTTTTCAGCATGCTTTCTTTAGGAAGGTAGTTATTTGGATCAAATATAAGATTCCCTTCTATTTTGGCTGAGGCTGGGTCAAGTGATGGAAGAGAAACAGATTTGTAGAGTTGATAGTTCCGAGAGAATTTTCTGAAGTCCATGACAGTTGGAAGTTGAGATTCTTTCAGAGCTTCTTTCACTAACTTTTTCAGACTAGATAAGAAGAAGTATATTTTGAGCTGACACACCATGTTATTATCCTTTGACTCTTGCACCCCAAGTAAATATGGATTTCCAATCACTACCAAAATGTCTTGATTTCATTGACCCTAAGTCTTTGGGTCTAGATCTGCTACACATTTGCACAAGTGTTTGTTTCAGAAGCAAGGGCAGACAGTGGCTATGCCAAAACCTAGGGTTGGAATTCCAGCTCAGGGCCCTCAGTGGTATATGGGGTGAATAGCTCTTACTTACTCTTGGATATCCAATTCTTCTGAGTTCAAGATATTGGCAATATGGGAAGCCACAAAGTTCTTCACTTGCTCATTCTGTTCCCATGGTAGAATTTGGACAATTTTGTTAATATCTGCCTGTGAAGGACTCCTCATCAACATAAGATAGGCAGCCAGTCGCTTATCTCCCGGAGAAGCATCATCAAGGAAAGTCTGAAGAAGAACCTCCTGGTCCTGCAGTCAAAAGAGGAGATGGTTATCACTGTCCTGTGGTCAGAACACAGAACATGCCTGGCAAACACTGGCATTGTCTGCTAGCTCTTTCTTAAGCACAGGTCTAATTTCTCTGTAATCGTTCTTCAAATGCTGGTATTGAATCTTCTTGCCAGTGTTTCCTAGAGCACTATCAAGTAAGGGTTCCCAGAAAAAGCCTGTGGAATGCCTGTTGAATTCAATTCCATTAAAACACATAAATTATGGCCAAGTTGTGATTTGTTTGGAGATCCACCACTAAGTGAAAATCAAGTTGTTTTAACGTAAGTTATTTTAATGTGAGGATAAAGATGAGAAGGGGTAGTAAGAGTTTGGGGCTAATAAATAGGGTAGTTTCCAAAGTTCTGGAGTCTTTGCACCTAAGAGGGGGCCAAGTTGGCTATCCTAGCCTAAGCTTATTGGGGGAAAATTAAGCATGTTTTTCCATGATGAGAGGGATGGTCAATCTGGTAGGTGGACGGTAGGAAGCAAAAACATCTCACGTTCTGCATGTTGACATAGCAGCAAAGTCAAGTATTTCTCTCACGTCACATACTGCTAGGCAGTCAAGTCAATAGGCTTGTTGAAATTTGCAATTAGAAAACAGTAGAGGCCAGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGCAAGGCTGAGGCAGGCGGATCACCTGAGGTCAGGAGCTCAAGACCAGCCTGGCCAACATGGCAAAACTCCATCTCTACTAAAAAATACAAAAATTAGCTGGGTGTAATGGCACATGCCTGTAATCCCAGTTACTCAGGAGGCTGAGGCAGAGAGAATTGCTTGAACCCAGGAGGCAGAAGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCAATAGAGTGAGATTCCATCTCGAAAGAAGGAAGGAAGGAAGGAAAGAAGAAAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAAGAAACAGCAGAATAAAGTCAGTAGATGAAATCTAGAGTCTCATTCCCCTAGTACCTTCCAAATCCTTGTTAATAAACTTTCACTTTCAGACCTCTTCTTGTGGACTTTACCTTGTCTTTAGGCTCCATTTTCCGCAGAGCCTGGATGGCAGCTTTCTGGATCATCAGTGATGGCTTTGTACTTTGGACACATTTCAGGATTGAAGACTTGAGTTCTGGAGTTAACTGCTCCATGGTTTGGCCCATATTTCCAATGACCTGCATTGAAGAAAAGAAACAAGAACCCATCAGGGTGCAGGAGAGGGAAGTAAAAGGTGTCCAGGAAAAGTGCTTCTGAAATGATGTATGTCATATAAAAGACTGAGATTACCCGCAGAATCAAATAGGTGTAATCTTCATCCCCAGTGCAGTCATCTTGAATCTGTTCCATCAGGTAATTAGCAATGTCCAGCAGCTCCTGGGTCCCTGTAGGGTTTGTCTTATGATAGCTACAGAATAAGAGAAGAGAGTCAGGACTTGGTAACCCCAGTTAGGTTTGTCTTAAAACCCAAACTTGTGAATTAGAAAAAATAATTATAAAATTCATATGGAATCCAAAAAGAGCCTGAATAGCTGAAGCAATTTTAAGCAAAAAGAACATAGCTGGAGGCATCACATTACCTGACTTCAGATTATACAACAAGGCTATAGTAATCTAAACAGCATGGTACTGGCATAAAAATAGACACATAGATCAATGGAACAGAATACTGAACCCAGAAATAAAGTCACATACTTACAGTCAACGGATCTTTGACAAAATTGACAAAAACATACACTAGGGAAAGGACACCCTTTTCAATAAGTGGTGCTGGGAAAGATGGATTGCCATATGCAGAAGAATAAAACTGGACTCCTATCTGTCACCATATAAAAAAATCAACTCAAGATGGATCAAAGACTTAAATATAAGACCTGAGACTATAAAAATGCAAGAAGAAAACCTAGGGAAAACTTCTCTGGACATTGGCCTAGACAAAGAATTCGTGAATAAGACCTCAAAGGCAAAGACAACAAAAACAAAAAATAGACAAATAGAACTTAATTAAAGTAAAAAGTTTCTGCACAGTAAAACAAATAATCAACAGGGTGGTAACCTGCAGAATGGGAGAAAATATTTGCAAACTATTCATCCAATGGGGTACTAATATCCGGAATGTACAAGCAATTCAAACAACTCAACAAAAAAATCCCCCAAATAATCCCATTAAAAAGTAGGCAAAGGACATGAATAGACATTTTTTTCAAAAGAAGACATACAAATGGCAATAGGCATATGAAAAAATGCATAACATTACTAATCATTAGAGAAATGTAAATTAAAACCACAATGAGATAACATCTTACAAGAGTCAGGAGGGCCATTATTCAAAAGACAAAAAATAACAGTTGTTGGTGAGGATACAGAGAAAAGGAAACAGTTAATCACTGTTGATGGGATTGTAAATAAGTACAACCACTATGGAAAACAATACAGAGATTTCTCAAAGAACTAAAAATAGAACTACCAATAAATCCAACAATCCCATTACTGGGTATATACCTAAAGGAAAAGAAATCATTATATCCAAAGGAAACCTGCACCCATATGTTTATCACAGCACTATTCACAATAGCAAAGACATGGAATCAACCTAAGTGTCTATCAATGGACGATTGGATTAAAAATGTGAAATGTATAGGCAATAAAATACTATTCGGCCATAAAAAGAATAAAATCATGTCATTTGCAGCAACATGGATGGAACTGGAGGTCATTGTCTTAAGTGAAACAGGACAGTCACAGAAAGACAAATATTGCGTGTTGTCATTTATAAGTGGGAGTGAAATAATGTGCACACAAGGACATAGTGTGTGGAATGATAGACAATTGAGACTCAGAAGGTGTGGAAGTGGAGGGAGATGGATGGTGAGAAATTACTTAGTGGGTACACTATATGTTGTCTGGGTGATGGATACCCTGAAAGCCCTGACTTAACTACTGCACAATCTATTCATGTAACAAAATTACACTTGTTCCACATAAATTTATATAAAAATGTAAAAAAGAAAAAGCCAAAAAATTTCATCAAAGGAAAAACCTGCTAGCCTGAGCAACATGGTGAAACCCTGTATCTACCAAGAATACAAAAATTAGCCAGGGCATGGTAGCATGCACCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTCAGCCCAGGAATTTGAGGCTTCAGTGAGCCGTGACTGCATCACTGCACTCCAGCCTGGGTGACACAGTGAGACCATCTCAAAAAAACAACAACAACAAAAAAAAACAAAACAAACAAACAAAAAAATTCAGAGGAAAAAACTGCTAACTAATATTGAACTGAAGTTAATAATATGCAAG
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TCCAAAGGCAGTGAGGGTAGTTTTCAGCATGCTTTCTTTAGGAAGGTAGTTATTTGGATCAAATATAAGATTCCCTTCTATTTTGGCTGAGGCTGGGTCAAGTGATGGAAGAGAAACAGATTTGTAGAGTTGATAGTTCCGAGAGAATTTTCTGAAGTCCATGACAGTTGGAAGTTGAGATTCTTTCAGAGCTTCTTTCACTAACTTTTTCAGACTAGATAAGAAGAAGTATATTTTGAGCTGACACACCATGTTATTATCCTTTGACTCTTGCACCCCAAGTAAATATGGATTTCCAATCACTACCAAAATGTCTTGATTTCATTGACCCTAAGTCTTTGGGTCTAGATCTGCTACACATTTGCACAAGTGTTTGTTTCAGAAGCAAGGGCAGACAGTGGCTATGCCAAAACCTAGGGTTGGAATTCCAGCTCAGGGCCCTCAGTGGTATATGGGGTGAATAGCTCTTACTTACTCTTGGATATCCAATTCTTCTGAGTTCAAGATATTGGCAATATGGGAAGCCACAAAGTTCTTCACTTGCTCATTCTGTTCCCATGGTAGAATTTGGACAATTTTGTTAATATCTGCCTGTGAAGGACTCCTCATCAACATAAGATAGGCAGCCAGTCGCTTATCTCCCGGAGAAGCATCATCAAGGAAAGTCTGAAGAAGAACCTCCTGGTCCTGCAGTCAAAAGAGGAGATGGTTATCACTGTCCTGTGGTCAGAACACAGAACATGCCTGGCAAACACTGGCATTGTCTGCTAGCTCTTTCTTAAGCACAGGTCTAATTTCTCTGTAATCGTTCTTCAAATGCTGGTATTGAATCTTCTTGCCAGTGTTTCCTAGAGCACTATCAAGTAAGGGTTCCCAGAAAAAGCCTGTGGAATGCCTGTTGAATTCAATTCCATTAAAACACATAAATTATGGCCAAGTTGTGATTTGTTTGGAGATCCACCACTAAGTGAAAATCAAGTTGTTTTAACGTAAGTTATTTTAATGTGAGGATAAAGATGAGAAGGGGTAGTAAGAGTTTGGGGCTAATAAATAGGGTAGTTTCCAAAGTTCTGGAGTCTTTGCACCTAAGAGGGGGCCAAGTTGGCTATCCTAGCCTAAGCTTATTGGGGGAAAATTAAGCATGTTTTTCCATGATGAGAGGGATGGTCAATCTGGTAGGTGGACGGTAGGAAGCAAAAACATCTCACGTTCTGCATGTTGACATAGCAGCAAAGTCAAGTATTTCTCTCACGTCACATACTGCTAGGCAGTCAAGTCAATAGGCTTGTTGAAATTTGCAATTAGAAAACAGTAGAGGCCAGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGCAAGGCTGAGGCAGGCGGATCACCTGAGGTCAGGAGCTCAAGACCAGCCTGGCCAACATGGCAAAACTCCATCTCTACTAAAAAATACAAAAATTAGCTGGGTGTAATGGCACATGCCTGTAATCCCAGTTACTCAGGAGGCTGAGGCAGAGAGAATTGCTTGAACCCAGGAGGCAGAAGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCAATAGAGTGAGATTCCATCTCGAAAGAAGGAAGGAAGGAAGGAAAGAAGAAAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAAGAAACAGCAGAATAAAGTCAGTAGATGAAATCTAGAGTCTCATTCCCCTAGTACCTTCCAAATCCTTGTTAATAAACTTTCACTTTCAGACCTCTTCTTGTGGACTTTACCTTGTCTTTAGGCTCCATTTTCCGCAGAGCCTGGATGGCAGCTTTCTGGATCATCAGTGATGGCTTTGTACTTTGGACACATTTCAGGATTGAAGACTTGAGTTCTGGAGTTAACTGCTCCATGGTTTGGCCCATATTTCCAATGACCTGCATTGAAGAAAAGAAACAAGAACCCATCAGGGTGCAGGAGAGGGAAGTAAAAGGTGTCCAGGAAAAGTGCTTCTGAAATGATGTATGTCATATAAAAGACTGAGATTACCCACAGAATCAAATAGGTGTAATCTTCATCCCCAGTGCAGTCATCTTGAATCTGTTCCATCAGGTAATTAGCAATGTCCAGCAGCTCCTGGGTCCCTGTAGGGTTTGTCTTATGATAGCTACAGAATAAGAGAAGAGAGTCAGGACTTGGTAACCCCAGTTAGGTTTGTCTTAAAACCCAAACTTGTGAATTAGAAAAAATAATTATAAAATTCATATGGAATCCAAAAAGAGCCTGAATAGCTGAAGCAATTTTAAGCAAAAAGAACATAGCTGGAGGCATCACATTACCTGACTTCAGATTATACAACAAGGCTATAGTAATCTAAACAGCATGGTACTGGCATAAAAATAGACACATAGATCAATGGAACAGAATACTGAACCCAGAAATAAAGTCACATACTTACAGTCAACGGATCTTTGACAAAATTGACAAAAACATACACTAGGGAAAGGACACCCTTTTCAATAAGTGGTGCTGGGAAAGATGGATTGCCATATGCAGAAGAATAAAACTGGACTCCTATCTGTCACCATATAAAAAAATCAACTCAAGATGGATCAAAGACTTAAATATAAGACCTGAGACTATAAAAATGCAAGAAGAAAACCTAGGGAAAACTTCTCTGGACATTGGCCTAGACAAAGAATTCGTGAATAAGACCTCAAAGGCAAAGACAACAAAAACAAAAAATAGACAAATAGAACTTAATTAAAGTAAAAAGTTTCTGCACAGTAAAACAAATAATCAACAGGGTGGTAACCTGCAGAATGGGAGAAAATATTTGCAAACTATTCATCCAATGGGGTACTAATATCCGGAATGTACAAGCAATTCAAACAACTCAACAAAAAAATCCCCCAAATAATCCCATTAAAAAGTAGGCAAAGGACATGAATAGACATTTTTTTCAAAAGAAGACATACAAATGGCAATAGGCATATGAAAAAATGCATAACATTACTAATCATTAGAGAAATGTAAATTAAAACCACAATGAGATAACATCTTACAAGAGTCAGGAGGGCCATTATTCAAAAGACAAAAAATAACAGTTGTTGGTGAGGATACAGAGAAAAGGAAACAGTTAATCACTGTTGATGGGATTGTAAATAAGTACAACCACTATGGAAAACAATACAGAGATTTCTCAAAGAACTAAAAATAGAACTACCAATAAATCCAACAATCCCATTACTGGGTATATACCTAAAGGAAAAGAAATCATTATATCCAAAGGAAACCTGCACCCATATGTTTATCACAGCACTATTCACAATAGCAAAGACATGGAATCAACCTAAGTGTCTATCAATGGACGATTGGATTAAAAATGTGAAATGTATAGGCAATAAAATACTATTCGGCCATAAAAAGAATAAAATCATGTCATTTGCAGCAACATGGATGGAACTGGAGGTCATTGTCTTAAGTGAAACAGGACAGTCACAGAAAGACAAATATTGCGTGTTGTCATTTATAAGTGGGAGTGAAATAATGTGCACACAAGGACATAGTGTGTGGAATGATAGACAATTGAGACTCAGAAGGTGTGGAAGTGGAGGGAGATGGATGGTGAGAAATTACTTAGTGGGTACACTATATGTTGTCTGGGTGATGGATACCCTGAAAGCCCTGACTTAACTACTGCACAATCTATTCATGTAACAAAATTACACTTGTTCCACATAAATTTATATAAAAATGTAAAAAAGAAAAAGCCAAAAAATTTCATCAAAGGAAAAACCTGCTAGCCTGAGCAACATGGTGAAACCCTGTATCTACCAAGAATACAAAAATTAGCCAGGGCATGGTAGCATGCACCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTCAGCCCAGGAATTTGAGGCTTCAGTGAGCCGTGACTGCATCACTGCACTCCAGCCTGGGTGACACAGTGAGACCATCTCAAAAAAACAACAACAACAAAAAAAAACAAAACAAACAAACAAAAAAATTCAGAGGAAAAAACTGCTAACTAATATTGAACTGAAGTTAATAATATGCAAG
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Task1_train_3147
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A genomic change on Chromosome 2 affects APOB (apolipoprotein B). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Familial hypobetalipoproteinemia 1
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TCCAAAGGCAGTGAGGGTAGTTTTCAGCATGCTTTCTTTAGGAAGGTAGTTATTTGGATCAAATATAAGATTCCCTTCTATTTTGGCTGAGGCTGGGTCAAGTGATGGAAGAGAAACAGATTTGTAGAGTTGATAGTTCCGAGAGAATTTTCTGAAGTCCATGACAGTTGGAAGTTGAGATTCTTTCAGAGCTTCTTTCACTAACTTTTTCAGACTAGATAAGAAGAAGTATATTTTGAGCTGACACACCATGTTATTATCCTTTGACTCTTGCACCCCAAGTAAATATGGATTTCCAATCACTACCAAAATGTCTTGATTTCATTGACCCTAAGTCTTTGGGTCTAGATCTGCTACACATTTGCACAAGTGTTTGTTTCAGAAGCAAGGGCAGACAGTGGCTATGCCAAAACCTAGGGTTGGAATTCCAGCTCAGGGCCCTCAGTGGTATATGGGGTGAATAGCTCTTACTTACTCTTGGATATCCAATTCTTCTGAGTTCAAGATATTGGCAATATGGGAAGCCACAAAGTTCTTCACTTGCTCATTCTGTTCCCATGGTAGAATTTGGACAATTTTGTTAATATCTGCCTGTGAAGGACTCCTCATCAACATAAGATAGGCAGCCAGTCGCTTATCTCCCGGAGAAGCATCATCAAGGAAAGTCTGAAGAAGAACCTCCTGGTCCTGCAGTCAAAAGAGGAGATGGTTATCACTGTCCTGTGGTCAGAACACAGAACATGCCTGGCAAACACTGGCATTGTCTGCTAGCTCTTTCTTAAGCACAGGTCTAATTTCTCTGTAATCGTTCTTCAAATGCTGGTATTGAATCTTCTTGCCAGTGTTTCCTAGAGCACTATCAAGTAAGGGTTCCCAGAAAAAGCCTGTGGAATGCCTGTTGAATTCAATTCCATTAAAACACATAAATTATGGCCAAGTTGTGATTTGTTTGGAGATCCACCACTAAGTGAAAATCAAGTTGTTTTAACGTAAGTTATTTTAATGTGAGGATAAAGATGAGAAGGGGTAGTAAGAGTTTGGGGCTAATAAATAGGGTAGTTTCCAAAGTTCTGGAGTCTTTGCACCTAAGAGGGGGCCAAGTTGGCTATCCTAGCCTAAGCTTATTGGGGGAAAATTAAGCATGTTTTTCCATGATGAGAGGGATGGTCAATCTGGTAGGTGGACGGTAGGAAGCAAAAACATCTCACGTTCTGCATGTTGACATAGCAGCAAAGTCAAGTATTTCTCTCACGTCACATACTGCTAGGCAGTCAAGTCAATAGGCTTGTTGAAATTTGCAATTAGAAAACAGTAGAGGCCAGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGCAAGGCTGAGGCAGGCGGATCACCTGAGGTCAGGAGCTCAAGACCAGCCTGGCCAACATGGCAAAACTCCATCTCTACTAAAAAATACAAAAATTAGCTGGGTGTAATGGCACATGCCTGTAATCCCAGTTACTCAGGAGGCTGAGGCAGAGAGAATTGCTTGAACCCAGGAGGCAGAAGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCAATAGAGTGAGATTCCATCTCGAAAGAAGGAAGGAAGGAAGGAAAGAAGAAAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAAGAAACAGCAGAATAAAGTCAGTAGATGAAATCTAGAGTCTCATTCCCCTAGTACCTTCCAAATCCTTGTTAATAAACTTTCACTTTCAGACCTCTTCTTGTGGACTTTACCTTGTCTTTAGGCTCCATTTTCCGCAGAGCCTGGATGGCAGCTTTCTGGATCATCAGTGATGGCTTTGTACTTTGGACACATTTCAGGATTGAAGACTTGAGTTCTGGAGTTAACTGCTCCATGGTTTGGCCCATATTTCCAATGACCTGCATTGAAGAAAAGAAACAAGAACCCATCAGGGTGCAGGAGAGGGAAGTAAAAGGTGTCCAGGAAAAGTGCTTCTGAAATGATGTATGTCATATAAAAGACTGAGATTACCCGCAGAATCAAATAGGTGTAATCTTCATCCCCAGTGCAGTCATCTTGAATCTGTTCCATCAGGTAATTAGCAATGTCCAGCAGCTCCTGGGTCCCTGTAGGGTTTGTCTTATGATAGCTACAGAATAAGAGAAGAGAGTCAGGACTTGGTAACCCCAGTTAGGTTTGTCTTAAAACCCAAACTTGTGAATTAGAAAAAATAATTATAAAATTCATATGGAATCCAAAAAGAGCCTGAATAGCTGAAGCAATTTTAAGCAAAAAGAACATAGCTGGAGGCATCACATTACCTGACTTCAGATTATACAACAAGGCTATAGTAATCTAAACAGCATGGTACTGGCATAAAAATAGACACATAGATCAATGGAACAGAATACTGAACCCAGAAATAAAGTCACATACTTACAGTCAACGGATCTTTGACAAAATTGACAAAAACATACACTAGGGAAAGGACACCCTTTTCAATAAGTGGTGCTGGGAAAGATGGATTGCCATATGCAGAAGAATAAAACTGGACTCCTATCTGTCACCATATAAAAAAATCAACTCAAGATGGATCAAAGACTTAAATATAAGACCTGAGACTATAAAAATGCAAGAAGAAAACCTAGGGAAAACTTCTCTGGACATTGGCCTAGACAAAGAATTCGTGAATAAGACCTCAAAGGCAAAGACAACAAAAACAAAAAATAGACAAATAGAACTTAATTAAAGTAAAAAGTTTCTGCACAGTAAAACAAATAATCAACAGGGTGGTAACCTGCAGAATGGGAGAAAATATTTGCAAACTATTCATCCAATGGGGTACTAATATCCGGAATGTACAAGCAATTCAAACAACTCAACAAAAAAATCCCCCAAATAATCCCATTAAAAAGTAGGCAAAGGACATGAATAGACATTTTTTTCAAAAGAAGACATACAAATGGCAATAGGCATATGAAAAAATGCATAACATTACTAATCATTAGAGAAATGTAAATTAAAACCACAATGAGATAACATCTTACAAGAGTCAGGAGGGCCATTATTCAAAAGACAAAAAATAACAGTTGTTGGTGAGGATACAGAGAAAAGGAAACAGTTAATCACTGTTGATGGGATTGTAAATAAGTACAACCACTATGGAAAACAATACAGAGATTTCTCAAAGAACTAAAAATAGAACTACCAATAAATCCAACAATCCCATTACTGGGTATATACCTAAAGGAAAAGAAATCATTATATCCAAAGGAAACCTGCACCCATATGTTTATCACAGCACTATTCACAATAGCAAAGACATGGAATCAACCTAAGTGTCTATCAATGGACGATTGGATTAAAAATGTGAAATGTATAGGCAATAAAATACTATTCGGCCATAAAAAGAATAAAATCATGTCATTTGCAGCAACATGGATGGAACTGGAGGTCATTGTCTTAAGTGAAACAGGACAGTCACAGAAAGACAAATATTGCGTGTTGTCATTTATAAGTGGGAGTGAAATAATGTGCACACAAGGACATAGTGTGTGGAATGATAGACAATTGAGACTCAGAAGGTGTGGAAGTGGAGGGAGATGGATGGTGAGAAATTACTTAGTGGGTACACTATATGTTGTCTGGGTGATGGATACCCTGAAAGCCCTGACTTAACTACTGCACAATCTATTCATGTAACAAAATTACACTTGTTCCACATAAATTTATATAAAAATGTAAAAAAGAAAAAGCCAAAAAATTTCATCAAAGGAAAAACCTGCTAGCCTGAGCAACATGGTGAAACCCTGTATCTACCAAGAATACAAAAATTAGCCAGGGCATGGTAGCATGCACCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTCAGCCCAGGAATTTGAGGCTTCAGTGAGCCGTGACTGCATCACTGCACTCCAGCCTGGGTGACACAGTGAGACCATCTCAAAAAAACAACAACAACAAAAAAAAACAAAACAAACAAACAAAAAAATTCAGAGGAAAAAACTGCTAACTAATATTGAACTGAAGTTAATAATATGCAAG
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TCCAAAGGCAGTGAGGGTAGTTTTCAGCATGCTTTCTTTAGGAAGGTAGTTATTTGGATCAAATATAAGATTCCCTTCTATTTTGGCTGAGGCTGGGTCAAGTGATGGAAGAGAAACAGATTTGTAGAGTTGATAGTTCCGAGAGAATTTTCTGAAGTCCATGACAGTTGGAAGTTGAGATTCTTTCAGAGCTTCTTTCACTAACTTTTTCAGACTAGATAAGAAGAAGTATATTTTGAGCTGACACACCATGTTATTATCCTTTGACTCTTGCACCCCAAGTAAATATGGATTTCCAATCACTACCAAAATGTCTTGATTTCATTGACCCTAAGTCTTTGGGTCTAGATCTGCTACACATTTGCACAAGTGTTTGTTTCAGAAGCAAGGGCAGACAGTGGCTATGCCAAAACCTAGGGTTGGAATTCCAGCTCAGGGCCCTCAGTGGTATATGGGGTGAATAGCTCTTACTTACTCTTGGATATCCAATTCTTCTGAGTTCAAGATATTGGCAATATGGGAAGCCACAAAGTTCTTCACTTGCTCATTCTGTTCCCATGGTAGAATTTGGACAATTTTGTTAATATCTGCCTGTGAAGGACTCCTCATCAACATAAGATAGGCAGCCAGTCGCTTATCTCCCGGAGAAGCATCATCAAGGAAAGTCTGAAGAAGAACCTCCTGGTCCTGCAGTCAAAAGAGGAGATGGTTATCACTGTCCTGTGGTCAGAACACAGAACATGCCTGGCAAACACTGGCATTGTCTGCTAGCTCTTTCTTAAGCACAGGTCTAATTTCTCTGTAATCGTTCTTCAAATGCTGGTATTGAATCTTCTTGCCAGTGTTTCCTAGAGCACTATCAAGTAAGGGTTCCCAGAAAAAGCCTGTGGAATGCCTGTTGAATTCAATTCCATTAAAACACATAAATTATGGCCAAGTTGTGATTTGTTTGGAGATCCACCACTAAGTGAAAATCAAGTTGTTTTAACGTAAGTTATTTTAATGTGAGGATAAAGATGAGAAGGGGTAGTAAGAGTTTGGGGCTAATAAATAGGGTAGTTTCCAAAGTTCTGGAGTCTTTGCACCTAAGAGGGGGCCAAGTTGGCTATCCTAGCCTAAGCTTATTGGGGGAAAATTAAGCATGTTTTTCCATGATGAGAGGGATGGTCAATCTGGTAGGTGGACGGTAGGAAGCAAAAACATCTCACGTTCTGCATGTTGACATAGCAGCAAAGTCAAGTATTTCTCTCACGTCACATACTGCTAGGCAGTCAAGTCAATAGGCTTGTTGAAATTTGCAATTAGAAAACAGTAGAGGCCAGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGCAAGGCTGAGGCAGGCGGATCACCTGAGGTCAGGAGCTCAAGACCAGCCTGGCCAACATGGCAAAACTCCATCTCTACTAAAAAATACAAAAATTAGCTGGGTGTAATGGCACATGCCTGTAATCCCAGTTACTCAGGAGGCTGAGGCAGAGAGAATTGCTTGAACCCAGGAGGCAGAAGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCAATAGAGTGAGATTCCATCTCGAAAGAAGGAAGGAAGGAAGGAAAGAAGAAAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAAGAAACAGCAGAATAAAGTCAGTAGATGAAATCTAGAGTCTCATTCCCCTAGTACCTTCCAAATCCTTGTTAATAAACTTTCACTTTCAGACCTCTTCTTGTGGACTTTACCTTGTCTTTAGGCTCCATTTTCCGCAGAGCCTGGATGGCAGCTTTCTGGATCATCAGTGATGGCTTTGTACTTTGGACACATTTCAGGATTGAAGACTTGAGTTCTGGAGTTAACTGCTCCATGGTTTGGCCCATATTTCCAATGACCTGCATTGAAGAAAAGAAACAAGAACCCATCAGGGTGCAGGAGAGGGAAGTAAAAGGTGTCCAGGAAAAGTGCTTCTGAAATGATGTATGTCATATAAAAGACTGAGATTACCCACAGAATCAAATAGGTGTAATCTTCATCCCCAGTGCAGTCATCTTGAATCTGTTCCATCAGGTAATTAGCAATGTCCAGCAGCTCCTGGGTCCCTGTAGGGTTTGTCTTATGATAGCTACAGAATAAGAGAAGAGAGTCAGGACTTGGTAACCCCAGTTAGGTTTGTCTTAAAACCCAAACTTGTGAATTAGAAAAAATAATTATAAAATTCATATGGAATCCAAAAAGAGCCTGAATAGCTGAAGCAATTTTAAGCAAAAAGAACATAGCTGGAGGCATCACATTACCTGACTTCAGATTATACAACAAGGCTATAGTAATCTAAACAGCATGGTACTGGCATAAAAATAGACACATAGATCAATGGAACAGAATACTGAACCCAGAAATAAAGTCACATACTTACAGTCAACGGATCTTTGACAAAATTGACAAAAACATACACTAGGGAAAGGACACCCTTTTCAATAAGTGGTGCTGGGAAAGATGGATTGCCATATGCAGAAGAATAAAACTGGACTCCTATCTGTCACCATATAAAAAAATCAACTCAAGATGGATCAAAGACTTAAATATAAGACCTGAGACTATAAAAATGCAAGAAGAAAACCTAGGGAAAACTTCTCTGGACATTGGCCTAGACAAAGAATTCGTGAATAAGACCTCAAAGGCAAAGACAACAAAAACAAAAAATAGACAAATAGAACTTAATTAAAGTAAAAAGTTTCTGCACAGTAAAACAAATAATCAACAGGGTGGTAACCTGCAGAATGGGAGAAAATATTTGCAAACTATTCATCCAATGGGGTACTAATATCCGGAATGTACAAGCAATTCAAACAACTCAACAAAAAAATCCCCCAAATAATCCCATTAAAAAGTAGGCAAAGGACATGAATAGACATTTTTTTCAAAAGAAGACATACAAATGGCAATAGGCATATGAAAAAATGCATAACATTACTAATCATTAGAGAAATGTAAATTAAAACCACAATGAGATAACATCTTACAAGAGTCAGGAGGGCCATTATTCAAAAGACAAAAAATAACAGTTGTTGGTGAGGATACAGAGAAAAGGAAACAGTTAATCACTGTTGATGGGATTGTAAATAAGTACAACCACTATGGAAAACAATACAGAGATTTCTCAAAGAACTAAAAATAGAACTACCAATAAATCCAACAATCCCATTACTGGGTATATACCTAAAGGAAAAGAAATCATTATATCCAAAGGAAACCTGCACCCATATGTTTATCACAGCACTATTCACAATAGCAAAGACATGGAATCAACCTAAGTGTCTATCAATGGACGATTGGATTAAAAATGTGAAATGTATAGGCAATAAAATACTATTCGGCCATAAAAAGAATAAAATCATGTCATTTGCAGCAACATGGATGGAACTGGAGGTCATTGTCTTAAGTGAAACAGGACAGTCACAGAAAGACAAATATTGCGTGTTGTCATTTATAAGTGGGAGTGAAATAATGTGCACACAAGGACATAGTGTGTGGAATGATAGACAATTGAGACTCAGAAGGTGTGGAAGTGGAGGGAGATGGATGGTGAGAAATTACTTAGTGGGTACACTATATGTTGTCTGGGTGATGGATACCCTGAAAGCCCTGACTTAACTACTGCACAATCTATTCATGTAACAAAATTACACTTGTTCCACATAAATTTATATAAAAATGTAAAAAAGAAAAAGCCAAAAAATTTCATCAAAGGAAAAACCTGCTAGCCTGAGCAACATGGTGAAACCCTGTATCTACCAAGAATACAAAAATTAGCCAGGGCATGGTAGCATGCACCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTCAGCCCAGGAATTTGAGGCTTCAGTGAGCCGTGACTGCATCACTGCACTCCAGCCTGGGTGACACAGTGAGACCATCTCAAAAAAACAACAACAACAAAAAAAAACAAAACAAACAAACAAAAAAATTCAGAGGAAAAAACTGCTAACTAATATTGAACTGAAGTTAATAATATGCAAG
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Task1_train_3148
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This variant impacts the gene PTRHD1, LOC129933272 (peptidyl-tRNA hydrolase domain containing 1| ATAC-STARR-seq lymphoblastoid active region 15435) on Chromosome 2. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Parkinsonian disorder
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TAAGCCTCCCAAAGTGCTAGGATTACAGGAGTGAGCCACCATGCCCGGCCCCTAGTGGAAGGATTTCTAAAAGCACATCCACTTCCACTTTCCTCCACCCCTCCCACTCTACCTCACTGAAACCTAGAGGGGTTTTCCTTCTGCTGGGATGGCTCCCACTTGTTTATTAAAGGGAGAGTACAATATTCTCTAACATCCTTCTGAAATTGTTTCTGGGTCATCCTTACTGCCAATTCACCCATGCTGAATCCCATTCCAGGAAGTATTAAAACGATCACTCAGAAAATTATTATTTTTGTGTTATTTTGCATAAAGTTTATCTCTTACCTATGAAGGCAGAAGCCACTAAGCTACTCAGAGGCTTGTTTTAATAAATTAGAGAATGCCAGTATTGCGACTCTTAACCTGCTGAGTCCTTCTGGCAGAGCTCTGCTGGAGGACTCATCAGCTTCTTCAGCCTCGGGCAGCAGCAGAGCATAGTGAGATACAGTGAGGCTCTGGAATCAGACTACTGGACTCCAAACTCTTGCTGACTGTGTGATCGTGGATAAGTTAGGTGACTTCGCTGGCCTCTTCGTCCCTTTATAAAACAGGAATAATGCTTCCTAATGGGGATCAATGAAATCAGGCTTGGACCTGTGCCTGGCACACACTAAGCACTCAATAAATGTAGTTAATCCTGGTATTTTCTTATATTTTATTGGCCCTTCTGACTACAGCGGCACCTCAATGTAATCAGTAGCGACTCCTAAGTCCCTTTCTTGAGTCATGACTAACAACTAAGAATCATGAGACCCTCTTTTAAACTCAGGGGAGTCACTTAATCCCTGTAGGCTTCAGAGAGTTTCACCTGCGACAAGAGGAGTCTAACCTGATTTCTTGAGACCTCTTACTAGGAAGAAAATCTAAGTGAAAAGCCAGCAGCTTCTGTTCTGCCTACACAGATTCTCAAGGCATTTTTCCTACAGGTTACCGCTTGATGTTTCACTATCCAGCAGCAATTTTTCTCTTGAAAGATAATCTATCTTTGTCAGTTACCCATGAAGGGATTACTCCACCCCTCCACCTGAGTTCTGGCTTAAAGCCGTTTTTCCTTATTATAAAAAGCCGTTTATTATTAAAGCCGTTTTTCCTTATTATAAAATATGTGCTTAAGGTAGAAAATTTTAAAAATACAGATTAAGCATTAGGAAATAACCAAAATCTCACCATGCACTACTTAATATGTAGATGTATTTCTTTAGTTTTTCCTTTCAAAGTCTGGATCATTCTGTATATATAGTTCAGTTAGCTTCGCATCATGAGCACTCTTCCCGACCACTAAATATGCTTCAAAACCATAAGGGCTCCCATGAATATCCTTGTGCAAAGCTCTTTGGGTGCATCTGATTATTTTCTTAGGCTACATCTCTAGCAGCAGGATAGAGAGTCAAAGGGTAAGGGTGAGATTTGTTTGGTCATCTGCAAACAGAACCTGACTGCTATTTTAAAAGGTGTACCGATTTACACACCTGGTGCCTGGTCTAGCTGAAGCTAGGTTCAATTTATACTAACGTTTTTAGTATTTATTTTCAAATAATTTGGCGTCCTACCCAGGTAAATACTCAGTTTGACTTCACTTTGCACTGTCCCTTCGGGCTCGGTTTTGCAGGAGGACAGCACTTTGGGGCATGGCTTTAAAAAGTCGGCCAGTGCACAGGCGGAACAGCGGGGACACAGGAGCCACCACTTTACCGCGAGCCCAGCAGGGGGCGGAGGACTGCTGTCCACTCTTCACACAGTCAGGCCCTTCCCAAGGGCGCACCTCCAGGGAAACAGCTCCAGTCTAAATGTTAACGATCACCCCAACTCCCGCCGCACCCACTCCCCGCAGCCAGGCCTTCGGACCGAAGACCACACCCACTTCCGCCCTCGATGTCTCAGCACCTCCCCCTCCGCCCGAGTGCCTCACCTCGAGGACCACTTTGCGCATGCGCCCCAGCTCTTGGAGGTAAGCGGCTGTGTGCGGGTGGTCGCGGTGAGTGTGCAAGGCCGCGGTGGCCGCGTGACAAGCCTGCGCTACCAGTGCGCCCGCCGGCCAGGAGAACGGAGCTTGTGATAGATCCTTTCGTAACACCAAGTATTGTACCAGGACCTGCGGCTCCGCCCCAGAGGCCGCCATCTTCCTGACCACCCGAAAGGCCGGACCTACTCCCCGGTGCATCTTGGGATCAGGGCGGGGCCCTGAGCGCCGCCATGCTTTTGTACGGCAGGATCGCAAAGCACGCCGGGACCGGTTGGTTTGGTTTTGAAGACGTGGATGGCGGGAATTCTCGCTTCTGGCCTGGGTGAGCTAGAAGGGAGAAGGTAGGGGAAAGACCCATTGTCGGACCGGACCGTGGCCAGGGTGGCGGGCTGAACGGCCTTCTTAAAACTCCTTCCGTGGCCGGGAAGCCCGCTGGACCAGAGTAGCCGTGGCCTCGGGAGCGCGCCGGGGCCGCGGGATGGGCGCGGGGGTGGGCATGGACTCTGCTGGCTCGGACGATGGGAGAGGGCGGGCGGCTCAGGAAAGGGGATCCTAGCCGTGACATTTGTGTCATCCGCGGCCCAGGGGTTGTGCCTGAGTGGTGTGTGCCCTGCCGTCTGGGTTTGAATGGGACTAGATGTGATGTGACTGTTGCCATTTTTCTTTTATTAGCAAGGACATTGGAGTCCCTATCACCGGTTGCCTAGACAACTTCATGGGAAGGCCCTTGGGAATCTGAGATGGAGCAGGCGAACCCTTTACGTCCAGATGGCGAGTCCAAAGGAGGTATTCAGAGGGTCGCCGCCTCCTTCCTGCTGCTGCCCAAAGATGACCCGCAGGCTGAGAGAGCCCTTTCCTCCTGGAACTGACGTGGGACCTGGCCTGTTTGGGAGCAGAATAGTGAAAGGAACTAACATTGAAGACAAAGGGACAGGCAGCCAAGATTATTCGAGGAGGAAAAATGGCTTCGTTTCTAGGCTCCCACCCCTTTTGAAACGGATAAGTTGCATCCATCATATGCTCAGTGTTTATATTCTGAACTGCGGTTCTAGCCAGGGAGGTCCCTTTCCTCTCCCCGGATTTTTTGGGCCATGTATGCATTACTCTTGAGGGAGGGCCAGTGTAGGGCAGTGACTTTAGTGTTGGCTAGAACTGGTTTTGAGTGTTGGCTCTGCCATGATAAATATTGTGACCTTAGGCAAGTCACTTTATTCTCTGCCTCTGTTTCTTCATCTGGAAAATGGAGGTGAAAATAGCACTGTAGTTGTGGTTGTGGAAAAAGTATTTCTTTTGTGGTGGAAAAGTATTGAACTCAGACTTTTCAAGTGAAGCATTTAGCACATGTCTAATATATAGGAAATATTCAATGAAAGGCTTAATTCTTTACATACTTTGTGTCTTAAAATGTAGAAGGTGTTTAAAGAATGCTTGTTAGAGTTGCTTAGAATTACGAAACTATTACTTTTACTTAGTCCTTAGTCAATCCTTTGGAAACTGAGATTTGCGTTTGAATTTCTGTCCAGGAGTAAGTTGCTTTCTTCTTTAGTGCCTAGTAATATTTGTGGACAGTTCTGGTTTTGTGTGACTTTATGTTCTTTGCTACTAATACTTTTTAGAACTTTGAAATACTTACTCAAGCCTGATGCCTAAATCCAAAGGGTTCTACGTTAGTACTTTGGGAAAGCTTGCCATAAAACCTAACTTAAATTACAGTTTTAAAAAGAATTTCTGAGCGCGTCAGTGAATTTGGTTATCCTATTTTTCTCTGGGTCATCATTATCATTGATAACAGAGAAGTAACTATATTCAGCCTAAGATGACTTAAGCTGAGACTTTAGATAATAAAAGTATATGGGGTAAGATTTATTGTTACTTTAAGACTAAAAATAAGTTTGGTGACTTTATGTAGTGGAAACATGCTACACTCAGGAGTAACCTGTTCTCTAGTCCAGGCCTTATTTCATTTCTGTTAAAGTAAGTGATGAGGTGGAAGTTTTGGATTATCAAGAGACTTAGACCAGTCTCCTTATTCTCTACCCAAAACAATATTTAAACACTTAGCTGTTACCCATACTGGTTTTATCCCTCTGC
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TAAGCCTCCCAAAGTGCTAGGATTACAGGAGTGAGCCACCATGCCCGGCCCCTAGTGGAAGGATTTCTAAAAGCACATCCACTTCCACTTTCCTCCACCCCTCCCACTCTACCTCACTGAAACCTAGAGGGGTTTTCCTTCTGCTGGGATGGCTCCCACTTGTTTATTAAAGGGAGAGTACAATATTCTCTAACATCCTTCTGAAATTGTTTCTGGGTCATCCTTACTGCCAATTCACCCATGCTGAATCCCATTCCAGGAAGTATTAAAACGATCACTCAGAAAATTATTATTTTTGTGTTATTTTGCATAAAGTTTATCTCTTACCTATGAAGGCAGAAGCCACTAAGCTACTCAGAGGCTTGTTTTAATAAATTAGAGAATGCCAGTATTGCGACTCTTAACCTGCTGAGTCCTTCTGGCAGAGCTCTGCTGGAGGACTCATCAGCTTCTTCAGCCTCGGGCAGCAGCAGAGCATAGTGAGATACAGTGAGGCTCTGGAATCAGACTACTGGACTCCAAACTCTTGCTGACTGTGTGATCGTGGATAAGTTAGGTGACTTCGCTGGCCTCTTCGTCCCTTTATAAAACAGGAATAATGCTTCCTAATGGGGATCAATGAAATCAGGCTTGGACCTGTGCCTGGCACACACTAAGCACTCAATAAATGTAGTTAATCCTGGTATTTTCTTATATTTTATTGGCCCTTCTGACTACAGCGGCACCTCAATGTAATCAGTAGCGACTCCTAAGTCCCTTTCTTGAGTCATGACTAACAACTAAGAATCATGAGACCCTCTTTTAAACTCAGGGGAGTCACTTAATCCCTGTAGGCTTCAGAGAGTTTCACCTGCGACAAGAGGAGTCTAACCTGATTTCTTGAGACCTCTTACTAGGAAGAAAATCTAAGTGAAAAGCCAGCAGCTTCTGTTCTGCCTACACAGATTCTCAAGGCATTTTTCCTACAGGTTACCGCTTGATGTTTCACTATCCAGCAGCAATTTTTCTCTTGAAAGATAATCTATCTTTGTCAGTTACCCATGAAGGGATTACTCCACCCCTCCACCTGAGTTCTGGCTTAAAGCCGTTTTTCCTTATTATAAAAAGCCGTTTATTATTAAAGCCGTTTTTCCTTATTATAAAATATGTGCTTAAGGTAGAAAATTTTAAAAATACAGATTAAGCATTAGGAAATAACCAAAATCTCACCATGCACTACTTAATATGTAGATGTATTTCTTTAGTTTTTCCTTTCAAAGTCTGGATCATTCTGTATATATAGTTCAGTTAGCTTCGCATCATGAGCACTCTTCCCGACCACTAAATATGCTTCAAAACCATAAGGGCTCCCATGAATATCCTTGTGCAAAGCTCTTTGGGTGCATCTGATTATTTTCTTAGGCTACATCTCTAGCAGCAGGATAGAGAGTCAAAGGGTAAGGGTGAGATTTGTTTGGTCATCTGCAAACAGAACCTGACTGCTATTTTAAAAGGTGTACCGATTTACACACCTGGTGCCTGGTCTAGCTGAAGCTAGGTTCAATTTATACTAACGTTTTTAGTATTTATTTTCAAATAATTTGGCGTCCTACCCAGGTAAATACTCAGTTTGACTTCACTTTGCACTGTCCCTTCGGGCTCGGTTTTGCAGGAGGACAGCACTTTGGGGCATGGCTTTAAAAAGTCGGCCAGTGCACAGGCGGAACAGCGGGGACACAGGAGCCACCACTTTACCGCGAGCCCAGCAGGGGGCGGAGGACTGCTGTCCACTCTTCACACAGTCAGGCCCTTCCCAAGGGCGCACCTCCAGGGAAACAGCTCCAGTCTAAATGTTAACGATCACCCCAACTCCCGCCGCACCCACTCCCCGCAGCCAGGCCTTCGGACCGAAGACCACACCCACTTCCGCCCTCGATGTCTCAGCACCTCCCCCTCCGCCCGAGTGCCTCACCTCGAGGACCACTTTGCGCATGCGCCCCAGCTCTTGGAGGTAAGCGGCTGTGTGCGGGTGGTCGCGGTGAGTGTGCAAGGCCGCGGTGGCCGCGTGATAAGCCTGCGCTACCAGTGCGCCCGCCGGCCAGGAGAACGGAGCTTGTGATAGATCCTTTCGTAACACCAAGTATTGTACCAGGACCTGCGGCTCCGCCCCAGAGGCCGCCATCTTCCTGACCACCCGAAAGGCCGGACCTACTCCCCGGTGCATCTTGGGATCAGGGCGGGGCCCTGAGCGCCGCCATGCTTTTGTACGGCAGGATCGCAAAGCACGCCGGGACCGGTTGGTTTGGTTTTGAAGACGTGGATGGCGGGAATTCTCGCTTCTGGCCTGGGTGAGCTAGAAGGGAGAAGGTAGGGGAAAGACCCATTGTCGGACCGGACCGTGGCCAGGGTGGCGGGCTGAACGGCCTTCTTAAAACTCCTTCCGTGGCCGGGAAGCCCGCTGGACCAGAGTAGCCGTGGCCTCGGGAGCGCGCCGGGGCCGCGGGATGGGCGCGGGGGTGGGCATGGACTCTGCTGGCTCGGACGATGGGAGAGGGCGGGCGGCTCAGGAAAGGGGATCCTAGCCGTGACATTTGTGTCATCCGCGGCCCAGGGGTTGTGCCTGAGTGGTGTGTGCCCTGCCGTCTGGGTTTGAATGGGACTAGATGTGATGTGACTGTTGCCATTTTTCTTTTATTAGCAAGGACATTGGAGTCCCTATCACCGGTTGCCTAGACAACTTCATGGGAAGGCCCTTGGGAATCTGAGATGGAGCAGGCGAACCCTTTACGTCCAGATGGCGAGTCCAAAGGAGGTATTCAGAGGGTCGCCGCCTCCTTCCTGCTGCTGCCCAAAGATGACCCGCAGGCTGAGAGAGCCCTTTCCTCCTGGAACTGACGTGGGACCTGGCCTGTTTGGGAGCAGAATAGTGAAAGGAACTAACATTGAAGACAAAGGGACAGGCAGCCAAGATTATTCGAGGAGGAAAAATGGCTTCGTTTCTAGGCTCCCACCCCTTTTGAAACGGATAAGTTGCATCCATCATATGCTCAGTGTTTATATTCTGAACTGCGGTTCTAGCCAGGGAGGTCCCTTTCCTCTCCCCGGATTTTTTGGGCCATGTATGCATTACTCTTGAGGGAGGGCCAGTGTAGGGCAGTGACTTTAGTGTTGGCTAGAACTGGTTTTGAGTGTTGGCTCTGCCATGATAAATATTGTGACCTTAGGCAAGTCACTTTATTCTCTGCCTCTGTTTCTTCATCTGGAAAATGGAGGTGAAAATAGCACTGTAGTTGTGGTTGTGGAAAAAGTATTTCTTTTGTGGTGGAAAAGTATTGAACTCAGACTTTTCAAGTGAAGCATTTAGCACATGTCTAATATATAGGAAATATTCAATGAAAGGCTTAATTCTTTACATACTTTGTGTCTTAAAATGTAGAAGGTGTTTAAAGAATGCTTGTTAGAGTTGCTTAGAATTACGAAACTATTACTTTTACTTAGTCCTTAGTCAATCCTTTGGAAACTGAGATTTGCGTTTGAATTTCTGTCCAGGAGTAAGTTGCTTTCTTCTTTAGTGCCTAGTAATATTTGTGGACAGTTCTGGTTTTGTGTGACTTTATGTTCTTTGCTACTAATACTTTTTAGAACTTTGAAATACTTACTCAAGCCTGATGCCTAAATCCAAAGGGTTCTACGTTAGTACTTTGGGAAAGCTTGCCATAAAACCTAACTTAAATTACAGTTTTAAAAAGAATTTCTGAGCGCGTCAGTGAATTTGGTTATCCTATTTTTCTCTGGGTCATCATTATCATTGATAACAGAGAAGTAACTATATTCAGCCTAAGATGACTTAAGCTGAGACTTTAGATAATAAAAGTATATGGGGTAAGATTTATTGTTACTTTAAGACTAAAAATAAGTTTGGTGACTTTATGTAGTGGAAACATGCTACACTCAGGAGTAACCTGTTCTCTAGTCCAGGCCTTATTTCATTTCTGTTAAAGTAAGTGATGAGGTGGAAGTTTTGGATTATCAAGAGACTTAGACCAGTCTCCTTATTCTCTACCCAAAACAATATTTAAACACTTAGCTGTTACCCATACTGGTTTTATCCCTCTGC
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Task1_train_3149
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A genomic change on Chromosome 2 affects DNMT3A (DNA methyltransferase 3 alpha). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; not provided
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TCCCATTATAAAATATATATCTCTATATGCCACATATCTACACCCCATCTACCCAGGCAAGCACCTGCCCGTCGGGCCCTCACCCTGGAGCCAACAATGCCATCCCTTCCTACTACTGACGCCAGGCCGCCTGCCTTGTAGGAAGTAGAACAAAGTGTTGAGCACTTGGGGCTCCAGGTGCTGCTGACTCGAGGTAAGAGCACAGCTATCATCAGACCAAGTACTAGAAAAGAAATACACACCACTCCAATCACACACACAAGGAGAGAGACGGCCGGTCCTCCCTCCAGCCCTGACACACCCGACTCAAGAGGAGGGGAAGTAGAAGAGAAGAGTGACAAGCCCAGAAGGCAGACCTTGGGGACTCCCTGGCCGCCCAGCTGTCACCATGCCCAGTGGCCCACCTGGCCCGAGGGGTGGGAGCCAGGGCACCAGAGCCACCGCTAACTCAGAAGCACCCTGCTCCCGCACCTTGGTTTGAAACCTAAAGGGAAGGGTGTTGGGTTTTTGTTTTCTTAAAGAAAATCTTAAAACAAACATAATTATAACCAGAACCATAAGAATAATTATAATAAAAGGTGTCATCAGCCTCCCAGTATAAAACTGCAGCCTTTGGAGATGACCAAAAACATCACATTCCAGGGGCCGGGAGCCGCCTTGTGCACAGAGGGGTGGATGGTGGGGGCCTCATAAAAGAACACACAAAAGGCGACTTAGACAGGAAAGCACCAGTACGTTTTGTATGTTTTTTTATTTGCTCCAGGTGGGGTTTTGACTGTCACTTTCCCACACTCTGGATTAGTTCTGATCCCACCACAAGGAGCCCTCGAATTGGCTAAAGTGAGAAACTGGGCCTGAAGACTCCGTACCCTCTGCCATCTTGCCGAGGGAGTCTCCTTTTAGAAAACAATCAAAGGGTTATTGCATGAGTCTGGATGAATCCCACTCTCAGCTGTCCACGGGCCCGACCACCTCATCTAGCCCCCTTTTTGGCAGGGAGAACCTGGCTCCCAAGTTCTCCTCCTTCACTTCGTTACAAACCAAGGGGAAGAGCCCACCGTGAGAACGCGCCATCTGCAAGCTGTCTCCCTTTCTCCATCCTTGGTGAAACCCTTTGCGCAGAAGGCAACGTGGAAGCTGATGTTTTTACTCATCTCGCTGTTTGAAAGCACCATTATGAAGTCGGGTTGTACAGTAGTTAACAGTACCTTTTATATATATATCTCATATCTATCATATATATATAAACTGTAAACAAGAGGTAACAGCGGCTTCTAGAAACTGATTTTCTTCAAGGTTTCCTGTGTGGTAGGCACCTGAAATACTGTAGAAAAATGTCTTGTGTGGTGTTCTCGTCTCCCTGCTGCTAACTGGGTTCTGTTTTGCGTGACCAGGAATGGTGCTGGCACGACAGCTCAGTGGCTGGGAGGGAATGCTGCCGCCTGAGTGTCTCTCTCTTTCCGTCCCCTGCTTGTGCTCCTATCTGATCAGGCTAGAGACAACAAAAAAAAGATATATAGTAAAAAAAAAAACCCAAAAAAAAAAAACAAAAAACAAAAAAAAAAACAACCCAATATATAGATTTCTATAGAATTTCCTTTTTTCCTCTCTCCCACCTTTCCTCTGCAAGGTATTGTTACTATTTTTTGTTACTGATTTTTGCTGCAATAACCTTCTTGTTTCAGTCACAGCAAGAAACAAAACCCAAACAAACAGAAAACCCCTCTGAAAAGAGTAGAAAATAAAAGGTCTGACCGAAAAAAAAGGGAAGGGGGAGGAAGGGAAGGGAGCTTGGTTTTGTTTTTAAATAGGACTGAAGAATAACATTGAAAAATCAGGAGATGATGTCCAACCCTTTTCGCAAGGCAAAGCCCTCCGGTATTTCCGCCTCTGTGGTTTTTGTTTTAAATTCCTTTTTCTCTTCTGGGTGCTGATACTTCTCTCCATCCTCATGTTCTTGGTGTTTTATTATGTTTTGTGTTTTTTGTTTGTTTGTTTAACTTTGTGTCGCTACCTCAGTTTGCCCCCATGTCCCTTACACACACGCAAAATACTCCTTCAGCGGAGCGAAGAGGTGGCGGATGACTGGCACGCTCCATGACCGGCCCAGCAGTCTCTGCCTCGCCAAGCGGCTCATGTTGGAGACGTCAGTATAGTGGACTGGGAAACCAAATACCCTGGGGGAGAAAAGGCAGAGAGGGCAGGGTGAGTGCTGGCCAGACCAGGCTGCCCGGAAGCCGTCTAACCACACAGCAGGACCCGGAGGACCAGCAGCCACCCGAAGTGCAGGGACAGGGGCACTCACACCCACCAACTCCTCTGACGCCTGCTTAGTTCTGCCGAATCTTCTGTCCTTTATAAACAACCCGGCACTCAGATCACCAACCATGTGCCAGGCACTGTGCTGGTTTCTGTGACCTTAAAGGTAGTAAGGTCATCACTGCCTAGAGTTTCACAACCCAGCAGAAATAAGAGTAATTTTGAACAATCCCTCAGAAATACCTCCAGGACACACTCTCTAGTTCTCCTCTCCTGCAGGGTTAGCTCGGCAACGTACACCTGGAGTCTGCATGTAACGAACACGTAGCCCTAGCATCCTCCCCATCAAGAGCAGGGAAGGCGAAAAAGGAGCCGAACTCCTGCCTGACTTCAGAAGCTGAAGGATTTCCTGTTTGCTCTGGTTGTTTGTGTAAATGGTCTCTTTGTCTGGCTAAATCCTAGTTACACTCAGAGAACAAGAAGGTCATCCAGCCCCGAAAGTCCCATTTGCATCAAATCAGGGTGTTGAGGCTGCGAGGTCTGCCTGGCCCTATGCTGGCTTGGTTTACAAAAGACCTATAAAATTGGCACCACAAGTTAAGGTCCTGTCACTGCAGTGGTTCCCTGGGGGATCAGCAGGGTCTCTGGGAGACAAGGCAGCAGGGGATTTCCTAGACTCCTCTTTTTTTTTTTTTTCCCTTTGAGATGGAATCTCTCTGTTGCACAGGCTGGAGCACAGTGGCGCAATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCTCCTGGCCCCTAGACTCCTCTTACTTGGGACCAGCCTTAAAATACCCAGGAGCCTGGGGTGTCAGGAGTCCACCCCAGGAGTCTGCCATGTTGGGAAATGCTTGATAAAACCCACTGTTCCCAGGACGTTTGTGGAAAACAAGTCAGGTGGGAAAGGCAGAGGACCCCCGCAGCAAGCACAGCAATCAGAACAGCCACACCGCAGCCAGATGCCAGCACAACCCGGGTACCTTTCCATTTCAGTGCACCATAAGATGTCCTCTTTCTCATTCATGAAGACAGGAAAATGCTGGTCTTTGCCCTGCTTTATGGAGTTTGACCTCGTAGTAATGGTCCTCACTTTGCTGAACTAGATGAAGAGGAGAAAAGAGGAATAAGCACGAATTCATTCACCAGCCAACACTGGTCATGCGTCTACCAAATATGCCAGGTACTCGCCAAACCCTGACAGGGCCTGGTCCACCCAGGGGGCTGGGTATGGCTCTGAGTGAGCAGAGTTCGCAGGGCAGGAGCCTCCACAGACCCCACAGCCTCACTTTTCTTCCTACTTGGAGGTCACCTGGCCAATCTTAGATCCATCTAGCCACAGACTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGACTGCAGTGGTGCGATCTCAGCTCACTGTAACCTCCACCTCCCGGGTTCAAGCGATTCTAATGCCTCAGACTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCTGGCTAATTTTTATATTTTTAGTCAGACAGGGTTTCACCGTGTCGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTATTGGGATTA
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TCCCATTATAAAATATATATCTCTATATGCCACATATCTACACCCCATCTACCCAGGCAAGCACCTGCCCGTCGGGCCCTCACCCTGGAGCCAACAATGCCATCCCTTCCTACTACTGACGCCAGGCCGCCTGCCTTGTAGGAAGTAGAACAAAGTGTTGAGCACTTGGGGCTCCAGGTGCTGCTGACTCGAGGTAAGAGCACAGCTATCATCAGACCAAGTACTAGAAAAGAAATACACACCACTCCAATCACACACACAAGGAGAGAGACGGCCGGTCCTCCCTCCAGCCCTGACACACCCGACTCAAGAGGAGGGGAAGTAGAAGAGAAGAGTGACAAGCCCAGAAGGCAGACCTTGGGGACTCCCTGGCCGCCCAGCTGTCACCATGCCCAGTGGCCCACCTGGCCCGAGGGGTGGGAGCCAGGGCACCAGAGCCACCGCTAACTCAGAAGCACCCTGCTCCCGCACCTTGGTTTGAAACCTAAAGGGAAGGGTGTTGGGTTTTTGTTTTCTTAAAGAAAATCTTAAAACAAACATAATTATAACCAGAACCATAAGAATAATTATAATAAAAGGTGTCATCAGCCTCCCAGTATAAAACTGCAGCCTTTGGAGATGACCAAAAACATCACATTCCAGGGGCCGGGAGCCGCCTTGTGCACAGAGGGGTGGATGGTGGGGGCCTCATAAAAGAACACACAAAAGGCGACTTAGACAGGAAAGCACCAGTACGTTTTGTATGTTTTTTTATTTGCTCCAGGTGGGGTTTTGACTGTCACTTTCCCACACTCTGGATTAGTTCTGATCCCACCACAAGGAGCCCTCGAATTGGCTAAAGTGAGAAACTGGGCCTGAAGACTCCGTACCCTCTGCCATCTTGCCGAGGGAGTCTCCTTTTAGAAAACAATCAAAGGGTTATTGCATGAGTCTGGATGAATCCCACTCTCAGCTGTCCACGGGCCCGACCACCTCATCTAGCCCCCTTTTTGGCAGGGAGAACCTGGCTCCCAAGTTCTCCTCCTTCACTTCGTTACAAACCAAGGGGAAGAGCCCACCGTGAGAACGCGCCATCTGCAAGCTGTCTCCCTTTCTCCATCCTTGGTGAAACCCTTTGCGCAGAAGGCAACGTGGAAGCTGATGTTTTTACTCATCTCGCTGTTTGAAAGCACCATTATGAAGTCGGGTTGTACAGTAGTTAACAGTACCTTTTATATATATATCTCATATCTATCATATATATATAAACTGTAAACAAGAGGTAACAGCGGCTTCTAGAAACTGATTTTCTTCAAGGTTTCCTGTGTGGTAGGCACCTGAAATACTGTAGAAAAATGTCTTGTGTGGTGTTCTCGTCTCCCTGCTGCTAACTGGGTTCTGTTTTGCGTGACCAGGAATGGTGCTGGCACGACAGCTCAGTGGCTGGGAGGGAATGCTGCCGCCTGAGTGTCTCTCTCTTTCCGTCCCCTGCTTGTGCTCCTATCTGATCAGGCTAGAGACAACAAAAAAAAGATATATAGTAAAAAAAAAAACCCAAAAAAAAAAAACAAAAAACAAAAAAAAAAACAACCCAATATATAGATTTCTATAGAATTTCCTTTTTTCCTCTCTCCCACCTTTCCTCTGCAAGGTATTGTTACTATTTTTTGTTACTGATTTTTGCTGCAATAACCTTCTTGTTTCAGTCACAGCAAGAAACAAAACCCAAACAAACAGAAAACCCCTCTGAAAAGAGTAGAAAATAAAAGGTCTGACCGAAAAAAAAGGGAAGGGGGAGGAAGGGAAGGGAGCTTGGTTTTGTTTTTAAATAGGACTGAAGAATAACATTGAAAAATCAGGAGATGATGTCCAACCCTTTTCGCAAGGCAAAGCCCTCCGGTATTTCCGCCTCTGTGGTTTTTGTTTTAAATTCCTTTTTCTCTTCTGGGTGCTGATACTTCTCTCCATCCTCATGTTCTTGGTGTTTTATTATGTTTTGTGTTTTTTGTTTGTTTGTTTAACTTTGTGTCGCTACCTCAGTTTGCCCCCATGTCCCTTACACACACGCAGAATACTCCTTCAGCGGAGCGAAGAGGTGGCGGATGACTGGCACGCTCCATGACCGGCCCAGCAGTCTCTGCCTCGCCAAGCGGCTCATGTTGGAGACGTCAGTATAGTGGACTGGGAAACCAAATACCCTGGGGGAGAAAAGGCAGAGAGGGCAGGGTGAGTGCTGGCCAGACCAGGCTGCCCGGAAGCCGTCTAACCACACAGCAGGACCCGGAGGACCAGCAGCCACCCGAAGTGCAGGGACAGGGGCACTCACACCCACCAACTCCTCTGACGCCTGCTTAGTTCTGCCGAATCTTCTGTCCTTTATAAACAACCCGGCACTCAGATCACCAACCATGTGCCAGGCACTGTGCTGGTTTCTGTGACCTTAAAGGTAGTAAGGTCATCACTGCCTAGAGTTTCACAACCCAGCAGAAATAAGAGTAATTTTGAACAATCCCTCAGAAATACCTCCAGGACACACTCTCTAGTTCTCCTCTCCTGCAGGGTTAGCTCGGCAACGTACACCTGGAGTCTGCATGTAACGAACACGTAGCCCTAGCATCCTCCCCATCAAGAGCAGGGAAGGCGAAAAAGGAGCCGAACTCCTGCCTGACTTCAGAAGCTGAAGGATTTCCTGTTTGCTCTGGTTGTTTGTGTAAATGGTCTCTTTGTCTGGCTAAATCCTAGTTACACTCAGAGAACAAGAAGGTCATCCAGCCCCGAAAGTCCCATTTGCATCAAATCAGGGTGTTGAGGCTGCGAGGTCTGCCTGGCCCTATGCTGGCTTGGTTTACAAAAGACCTATAAAATTGGCACCACAAGTTAAGGTCCTGTCACTGCAGTGGTTCCCTGGGGGATCAGCAGGGTCTCTGGGAGACAAGGCAGCAGGGGATTTCCTAGACTCCTCTTTTTTTTTTTTTTCCCTTTGAGATGGAATCTCTCTGTTGCACAGGCTGGAGCACAGTGGCGCAATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCTCCTGGCCCCTAGACTCCTCTTACTTGGGACCAGCCTTAAAATACCCAGGAGCCTGGGGTGTCAGGAGTCCACCCCAGGAGTCTGCCATGTTGGGAAATGCTTGATAAAACCCACTGTTCCCAGGACGTTTGTGGAAAACAAGTCAGGTGGGAAAGGCAGAGGACCCCCGCAGCAAGCACAGCAATCAGAACAGCCACACCGCAGCCAGATGCCAGCACAACCCGGGTACCTTTCCATTTCAGTGCACCATAAGATGTCCTCTTTCTCATTCATGAAGACAGGAAAATGCTGGTCTTTGCCCTGCTTTATGGAGTTTGACCTCGTAGTAATGGTCCTCACTTTGCTGAACTAGATGAAGAGGAGAAAAGAGGAATAAGCACGAATTCATTCACCAGCCAACACTGGTCATGCGTCTACCAAATATGCCAGGTACTCGCCAAACCCTGACAGGGCCTGGTCCACCCAGGGGGCTGGGTATGGCTCTGAGTGAGCAGAGTTCGCAGGGCAGGAGCCTCCACAGACCCCACAGCCTCACTTTTCTTCCTACTTGGAGGTCACCTGGCCAATCTTAGATCCATCTAGCCACAGACTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGACTGCAGTGGTGCGATCTCAGCTCACTGTAACCTCCACCTCCCGGGTTCAAGCGATTCTAATGCCTCAGACTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCTGGCTAATTTTTATATTTTTAGTCAGACAGGGTTTCACCGTGTCGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTATTGGGATTA
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Task1_train_3150
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This alteration in DNMT3A (DNA methyltransferase 3 alpha) on Chromosome 2 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Tatton-Brown-Rahman overgrowth syndrome
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TCTATATGCCACATATCTACACCCCATCTACCCAGGCAAGCACCTGCCCGTCGGGCCCTCACCCTGGAGCCAACAATGCCATCCCTTCCTACTACTGACGCCAGGCCGCCTGCCTTGTAGGAAGTAGAACAAAGTGTTGAGCACTTGGGGCTCCAGGTGCTGCTGACTCGAGGTAAGAGCACAGCTATCATCAGACCAAGTACTAGAAAAGAAATACACACCACTCCAATCACACACACAAGGAGAGAGACGGCCGGTCCTCCCTCCAGCCCTGACACACCCGACTCAAGAGGAGGGGAAGTAGAAGAGAAGAGTGACAAGCCCAGAAGGCAGACCTTGGGGACTCCCTGGCCGCCCAGCTGTCACCATGCCCAGTGGCCCACCTGGCCCGAGGGGTGGGAGCCAGGGCACCAGAGCCACCGCTAACTCAGAAGCACCCTGCTCCCGCACCTTGGTTTGAAACCTAAAGGGAAGGGTGTTGGGTTTTTGTTTTCTTAAAGAAAATCTTAAAACAAACATAATTATAACCAGAACCATAAGAATAATTATAATAAAAGGTGTCATCAGCCTCCCAGTATAAAACTGCAGCCTTTGGAGATGACCAAAAACATCACATTCCAGGGGCCGGGAGCCGCCTTGTGCACAGAGGGGTGGATGGTGGGGGCCTCATAAAAGAACACACAAAAGGCGACTTAGACAGGAAAGCACCAGTACGTTTTGTATGTTTTTTTATTTGCTCCAGGTGGGGTTTTGACTGTCACTTTCCCACACTCTGGATTAGTTCTGATCCCACCACAAGGAGCCCTCGAATTGGCTAAAGTGAGAAACTGGGCCTGAAGACTCCGTACCCTCTGCCATCTTGCCGAGGGAGTCTCCTTTTAGAAAACAATCAAAGGGTTATTGCATGAGTCTGGATGAATCCCACTCTCAGCTGTCCACGGGCCCGACCACCTCATCTAGCCCCCTTTTTGGCAGGGAGAACCTGGCTCCCAAGTTCTCCTCCTTCACTTCGTTACAAACCAAGGGGAAGAGCCCACCGTGAGAACGCGCCATCTGCAAGCTGTCTCCCTTTCTCCATCCTTGGTGAAACCCTTTGCGCAGAAGGCAACGTGGAAGCTGATGTTTTTACTCATCTCGCTGTTTGAAAGCACCATTATGAAGTCGGGTTGTACAGTAGTTAACAGTACCTTTTATATATATATCTCATATCTATCATATATATATAAACTGTAAACAAGAGGTAACAGCGGCTTCTAGAAACTGATTTTCTTCAAGGTTTCCTGTGTGGTAGGCACCTGAAATACTGTAGAAAAATGTCTTGTGTGGTGTTCTCGTCTCCCTGCTGCTAACTGGGTTCTGTTTTGCGTGACCAGGAATGGTGCTGGCACGACAGCTCAGTGGCTGGGAGGGAATGCTGCCGCCTGAGTGTCTCTCTCTTTCCGTCCCCTGCTTGTGCTCCTATCTGATCAGGCTAGAGACAACAAAAAAAAGATATATAGTAAAAAAAAAAACCCAAAAAAAAAAAACAAAAAACAAAAAAAAAAACAACCCAATATATAGATTTCTATAGAATTTCCTTTTTTCCTCTCTCCCACCTTTCCTCTGCAAGGTATTGTTACTATTTTTTGTTACTGATTTTTGCTGCAATAACCTTCTTGTTTCAGTCACAGCAAGAAACAAAACCCAAACAAACAGAAAACCCCTCTGAAAAGAGTAGAAAATAAAAGGTCTGACCGAAAAAAAAGGGAAGGGGGAGGAAGGGAAGGGAGCTTGGTTTTGTTTTTAAATAGGACTGAAGAATAACATTGAAAAATCAGGAGATGATGTCCAACCCTTTTCGCAAGGCAAAGCCCTCCGGTATTTCCGCCTCTGTGGTTTTTGTTTTAAATTCCTTTTTCTCTTCTGGGTGCTGATACTTCTCTCCATCCTCATGTTCTTGGTGTTTTATTATGTTTTGTGTTTTTTGTTTGTTTGTTTAACTTTGTGTCGCTACCTCAGTTTGCCCCCATGTCCCTTACACACACGCAAAATACTCCTTCAGCGGAGCGAAGAGGTGGCGGATGACTGGCACGCTCCATGACCGGCCCAGCAGTCTCTGCCTCGCCAAGCGGCTCATGTTGGAGACGTCAGTATAGTGGACTGGGAAACCAAATACCCTGGGGGAGAAAAGGCAGAGAGGGCAGGGTGAGTGCTGGCCAGACCAGGCTGCCCGGAAGCCGTCTAACCACACAGCAGGACCCGGAGGACCAGCAGCCACCCGAAGTGCAGGGACAGGGGCACTCACACCCACCAACTCCTCTGACGCCTGCTTAGTTCTGCCGAATCTTCTGTCCTTTATAAACAACCCGGCACTCAGATCACCAACCATGTGCCAGGCACTGTGCTGGTTTCTGTGACCTTAAAGGTAGTAAGGTCATCACTGCCTAGAGTTTCACAACCCAGCAGAAATAAGAGTAATTTTGAACAATCCCTCAGAAATACCTCCAGGACACACTCTCTAGTTCTCCTCTCCTGCAGGGTTAGCTCGGCAACGTACACCTGGAGTCTGCATGTAACGAACACGTAGCCCTAGCATCCTCCCCATCAAGAGCAGGGAAGGCGAAAAAGGAGCCGAACTCCTGCCTGACTTCAGAAGCTGAAGGATTTCCTGTTTGCTCTGGTTGTTTGTGTAAATGGTCTCTTTGTCTGGCTAAATCCTAGTTACACTCAGAGAACAAGAAGGTCATCCAGCCCCGAAAGTCCCATTTGCATCAAATCAGGGTGTTGAGGCTGCGAGGTCTGCCTGGCCCTATGCTGGCTTGGTTTACAAAAGACCTATAAAATTGGCACCACAAGTTAAGGTCCTGTCACTGCAGTGGTTCCCTGGGGGATCAGCAGGGTCTCTGGGAGACAAGGCAGCAGGGGATTTCCTAGACTCCTCTTTTTTTTTTTTTTCCCTTTGAGATGGAATCTCTCTGTTGCACAGGCTGGAGCACAGTGGCGCAATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCTCCTGGCCCCTAGACTCCTCTTACTTGGGACCAGCCTTAAAATACCCAGGAGCCTGGGGTGTCAGGAGTCCACCCCAGGAGTCTGCCATGTTGGGAAATGCTTGATAAAACCCACTGTTCCCAGGACGTTTGTGGAAAACAAGTCAGGTGGGAAAGGCAGAGGACCCCCGCAGCAAGCACAGCAATCAGAACAGCCACACCGCAGCCAGATGCCAGCACAACCCGGGTACCTTTCCATTTCAGTGCACCATAAGATGTCCTCTTTCTCATTCATGAAGACAGGAAAATGCTGGTCTTTGCCCTGCTTTATGGAGTTTGACCTCGTAGTAATGGTCCTCACTTTGCTGAACTAGATGAAGAGGAGAAAAGAGGAATAAGCACGAATTCATTCACCAGCCAACACTGGTCATGCGTCTACCAAATATGCCAGGTACTCGCCAAACCCTGACAGGGCCTGGTCCACCCAGGGGGCTGGGTATGGCTCTGAGTGAGCAGAGTTCGCAGGGCAGGAGCCTCCACAGACCCCACAGCCTCACTTTTCTTCCTACTTGGAGGTCACCTGGCCAATCTTAGATCCATCTAGCCACAGACTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGACTGCAGTGGTGCGATCTCAGCTCACTGTAACCTCCACCTCCCGGGTTCAAGCGATTCTAATGCCTCAGACTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCTGGCTAATTTTTATATTTTTAGTCAGACAGGGTTTCACCGTGTCGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTATTGGGATTATAGGCGTGAGCCACCGCACCC
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TCTATATGCCACATATCTACACCCCATCTACCCAGGCAAGCACCTGCCCGTCGGGCCCTCACCCTGGAGCCAACAATGCCATCCCTTCCTACTACTGACGCCAGGCCGCCTGCCTTGTAGGAAGTAGAACAAAGTGTTGAGCACTTGGGGCTCCAGGTGCTGCTGACTCGAGGTAAGAGCACAGCTATCATCAGACCAAGTACTAGAAAAGAAATACACACCACTCCAATCACACACACAAGGAGAGAGACGGCCGGTCCTCCCTCCAGCCCTGACACACCCGACTCAAGAGGAGGGGAAGTAGAAGAGAAGAGTGACAAGCCCAGAAGGCAGACCTTGGGGACTCCCTGGCCGCCCAGCTGTCACCATGCCCAGTGGCCCACCTGGCCCGAGGGGTGGGAGCCAGGGCACCAGAGCCACCGCTAACTCAGAAGCACCCTGCTCCCGCACCTTGGTTTGAAACCTAAAGGGAAGGGTGTTGGGTTTTTGTTTTCTTAAAGAAAATCTTAAAACAAACATAATTATAACCAGAACCATAAGAATAATTATAATAAAAGGTGTCATCAGCCTCCCAGTATAAAACTGCAGCCTTTGGAGATGACCAAAAACATCACATTCCAGGGGCCGGGAGCCGCCTTGTGCACAGAGGGGTGGATGGTGGGGGCCTCATAAAAGAACACACAAAAGGCGACTTAGACAGGAAAGCACCAGTACGTTTTGTATGTTTTTTTATTTGCTCCAGGTGGGGTTTTGACTGTCACTTTCCCACACTCTGGATTAGTTCTGATCCCACCACAAGGAGCCCTCGAATTGGCTAAAGTGAGAAACTGGGCCTGAAGACTCCGTACCCTCTGCCATCTTGCCGAGGGAGTCTCCTTTTAGAAAACAATCAAAGGGTTATTGCATGAGTCTGGATGAATCCCACTCTCAGCTGTCCACGGGCCCGACCACCTCATCTAGCCCCCTTTTTGGCAGGGAGAACCTGGCTCCCAAGTTCTCCTCCTTCACTTCGTTACAAACCAAGGGGAAGAGCCCACCGTGAGAACGCGCCATCTGCAAGCTGTCTCCCTTTCTCCATCCTTGGTGAAACCCTTTGCGCAGAAGGCAACGTGGAAGCTGATGTTTTTACTCATCTCGCTGTTTGAAAGCACCATTATGAAGTCGGGTTGTACAGTAGTTAACAGTACCTTTTATATATATATCTCATATCTATCATATATATATAAACTGTAAACAAGAGGTAACAGCGGCTTCTAGAAACTGATTTTCTTCAAGGTTTCCTGTGTGGTAGGCACCTGAAATACTGTAGAAAAATGTCTTGTGTGGTGTTCTCGTCTCCCTGCTGCTAACTGGGTTCTGTTTTGCGTGACCAGGAATGGTGCTGGCACGACAGCTCAGTGGCTGGGAGGGAATGCTGCCGCCTGAGTGTCTCTCTCTTTCCGTCCCCTGCTTGTGCTCCTATCTGATCAGGCTAGAGACAACAAAAAAAAGATATATAGTAAAAAAAAAAACCCAAAAAAAAAAAACAAAAAACAAAAAAAAAAACAACCCAATATATAGATTTCTATAGAATTTCCTTTTTTCCTCTCTCCCACCTTTCCTCTGCAAGGTATTGTTACTATTTTTTGTTACTGATTTTTGCTGCAATAACCTTCTTGTTTCAGTCACAGCAAGAAACAAAACCCAAACAAACAGAAAACCCCTCTGAAAAGAGTAGAAAATAAAAGGTCTGACCGAAAAAAAAGGGAAGGGGGAGGAAGGGAAGGGAGCTTGGTTTTGTTTTTAAATAGGACTGAAGAATAACATTGAAAAATCAGGAGATGATGTCCAACCCTTTTCGCAAGGCAAAGCCCTCCGGTATTTCCGCCTCTGTGGTTTTTGTTTTAAATTCCTTTTTCTCTTCTGGGTGCTGATACTTCTCTCCATCCTCATGTTCTTGGTGTTTTATTATGTTTTGTGTTTTTTGTTTGTTTGTTTAACTTTGTGTCGCTACCTCAGTTTGCCCCCATGTCCCTTACACACACGCAAAATACTCCTTCAGCGGAGCGGAGAGGTGGCGGATGACTGGCACGCTCCATGACCGGCCCAGCAGTCTCTGCCTCGCCAAGCGGCTCATGTTGGAGACGTCAGTATAGTGGACTGGGAAACCAAATACCCTGGGGGAGAAAAGGCAGAGAGGGCAGGGTGAGTGCTGGCCAGACCAGGCTGCCCGGAAGCCGTCTAACCACACAGCAGGACCCGGAGGACCAGCAGCCACCCGAAGTGCAGGGACAGGGGCACTCACACCCACCAACTCCTCTGACGCCTGCTTAGTTCTGCCGAATCTTCTGTCCTTTATAAACAACCCGGCACTCAGATCACCAACCATGTGCCAGGCACTGTGCTGGTTTCTGTGACCTTAAAGGTAGTAAGGTCATCACTGCCTAGAGTTTCACAACCCAGCAGAAATAAGAGTAATTTTGAACAATCCCTCAGAAATACCTCCAGGACACACTCTCTAGTTCTCCTCTCCTGCAGGGTTAGCTCGGCAACGTACACCTGGAGTCTGCATGTAACGAACACGTAGCCCTAGCATCCTCCCCATCAAGAGCAGGGAAGGCGAAAAAGGAGCCGAACTCCTGCCTGACTTCAGAAGCTGAAGGATTTCCTGTTTGCTCTGGTTGTTTGTGTAAATGGTCTCTTTGTCTGGCTAAATCCTAGTTACACTCAGAGAACAAGAAGGTCATCCAGCCCCGAAAGTCCCATTTGCATCAAATCAGGGTGTTGAGGCTGCGAGGTCTGCCTGGCCCTATGCTGGCTTGGTTTACAAAAGACCTATAAAATTGGCACCACAAGTTAAGGTCCTGTCACTGCAGTGGTTCCCTGGGGGATCAGCAGGGTCTCTGGGAGACAAGGCAGCAGGGGATTTCCTAGACTCCTCTTTTTTTTTTTTTTCCCTTTGAGATGGAATCTCTCTGTTGCACAGGCTGGAGCACAGTGGCGCAATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCTCCTGGCCCCTAGACTCCTCTTACTTGGGACCAGCCTTAAAATACCCAGGAGCCTGGGGTGTCAGGAGTCCACCCCAGGAGTCTGCCATGTTGGGAAATGCTTGATAAAACCCACTGTTCCCAGGACGTTTGTGGAAAACAAGTCAGGTGGGAAAGGCAGAGGACCCCCGCAGCAAGCACAGCAATCAGAACAGCCACACCGCAGCCAGATGCCAGCACAACCCGGGTACCTTTCCATTTCAGTGCACCATAAGATGTCCTCTTTCTCATTCATGAAGACAGGAAAATGCTGGTCTTTGCCCTGCTTTATGGAGTTTGACCTCGTAGTAATGGTCCTCACTTTGCTGAACTAGATGAAGAGGAGAAAAGAGGAATAAGCACGAATTCATTCACCAGCCAACACTGGTCATGCGTCTACCAAATATGCCAGGTACTCGCCAAACCCTGACAGGGCCTGGTCCACCCAGGGGGCTGGGTATGGCTCTGAGTGAGCAGAGTTCGCAGGGCAGGAGCCTCCACAGACCCCACAGCCTCACTTTTCTTCCTACTTGGAGGTCACCTGGCCAATCTTAGATCCATCTAGCCACAGACTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGACTGCAGTGGTGCGATCTCAGCTCACTGTAACCTCCACCTCCCGGGTTCAAGCGATTCTAATGCCTCAGACTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCTGGCTAATTTTTATATTTTTAGTCAGACAGGGTTTCACCGTGTCGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTATTGGGATTATAGGCGTGAGCCACCGCACCC
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Task1_train_3151
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A genetic alteration is present in DNMT3A (DNA methyltransferase 3 alpha) on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Tatton-Brown-Rahman overgrowth syndrome
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CCCTGGAGCCAACAATGCCATCCCTTCCTACTACTGACGCCAGGCCGCCTGCCTTGTAGGAAGTAGAACAAAGTGTTGAGCACTTGGGGCTCCAGGTGCTGCTGACTCGAGGTAAGAGCACAGCTATCATCAGACCAAGTACTAGAAAAGAAATACACACCACTCCAATCACACACACAAGGAGAGAGACGGCCGGTCCTCCCTCCAGCCCTGACACACCCGACTCAAGAGGAGGGGAAGTAGAAGAGAAGAGTGACAAGCCCAGAAGGCAGACCTTGGGGACTCCCTGGCCGCCCAGCTGTCACCATGCCCAGTGGCCCACCTGGCCCGAGGGGTGGGAGCCAGGGCACCAGAGCCACCGCTAACTCAGAAGCACCCTGCTCCCGCACCTTGGTTTGAAACCTAAAGGGAAGGGTGTTGGGTTTTTGTTTTCTTAAAGAAAATCTTAAAACAAACATAATTATAACCAGAACCATAAGAATAATTATAATAAAAGGTGTCATCAGCCTCCCAGTATAAAACTGCAGCCTTTGGAGATGACCAAAAACATCACATTCCAGGGGCCGGGAGCCGCCTTGTGCACAGAGGGGTGGATGGTGGGGGCCTCATAAAAGAACACACAAAAGGCGACTTAGACAGGAAAGCACCAGTACGTTTTGTATGTTTTTTTATTTGCTCCAGGTGGGGTTTTGACTGTCACTTTCCCACACTCTGGATTAGTTCTGATCCCACCACAAGGAGCCCTCGAATTGGCTAAAGTGAGAAACTGGGCCTGAAGACTCCGTACCCTCTGCCATCTTGCCGAGGGAGTCTCCTTTTAGAAAACAATCAAAGGGTTATTGCATGAGTCTGGATGAATCCCACTCTCAGCTGTCCACGGGCCCGACCACCTCATCTAGCCCCCTTTTTGGCAGGGAGAACCTGGCTCCCAAGTTCTCCTCCTTCACTTCGTTACAAACCAAGGGGAAGAGCCCACCGTGAGAACGCGCCATCTGCAAGCTGTCTCCCTTTCTCCATCCTTGGTGAAACCCTTTGCGCAGAAGGCAACGTGGAAGCTGATGTTTTTACTCATCTCGCTGTTTGAAAGCACCATTATGAAGTCGGGTTGTACAGTAGTTAACAGTACCTTTTATATATATATCTCATATCTATCATATATATATAAACTGTAAACAAGAGGTAACAGCGGCTTCTAGAAACTGATTTTCTTCAAGGTTTCCTGTGTGGTAGGCACCTGAAATACTGTAGAAAAATGTCTTGTGTGGTGTTCTCGTCTCCCTGCTGCTAACTGGGTTCTGTTTTGCGTGACCAGGAATGGTGCTGGCACGACAGCTCAGTGGCTGGGAGGGAATGCTGCCGCCTGAGTGTCTCTCTCTTTCCGTCCCCTGCTTGTGCTCCTATCTGATCAGGCTAGAGACAACAAAAAAAAGATATATAGTAAAAAAAAAAACCCAAAAAAAAAAAACAAAAAACAAAAAAAAAAACAACCCAATATATAGATTTCTATAGAATTTCCTTTTTTCCTCTCTCCCACCTTTCCTCTGCAAGGTATTGTTACTATTTTTTGTTACTGATTTTTGCTGCAATAACCTTCTTGTTTCAGTCACAGCAAGAAACAAAACCCAAACAAACAGAAAACCCCTCTGAAAAGAGTAGAAAATAAAAGGTCTGACCGAAAAAAAAGGGAAGGGGGAGGAAGGGAAGGGAGCTTGGTTTTGTTTTTAAATAGGACTGAAGAATAACATTGAAAAATCAGGAGATGATGTCCAACCCTTTTCGCAAGGCAAAGCCCTCCGGTATTTCCGCCTCTGTGGTTTTTGTTTTAAATTCCTTTTTCTCTTCTGGGTGCTGATACTTCTCTCCATCCTCATGTTCTTGGTGTTTTATTATGTTTTGTGTTTTTTGTTTGTTTGTTTAACTTTGTGTCGCTACCTCAGTTTGCCCCCATGTCCCTTACACACACGCAAAATACTCCTTCAGCGGAGCGAAGAGGTGGCGGATGACTGGCACGCTCCATGACCGGCCCAGCAGTCTCTGCCTCGCCAAGCGGCTCATGTTGGAGACGTCAGTATAGTGGACTGGGAAACCAAATACCCTGGGGGAGAAAAGGCAGAGAGGGCAGGGTGAGTGCTGGCCAGACCAGGCTGCCCGGAAGCCGTCTAACCACACAGCAGGACCCGGAGGACCAGCAGCCACCCGAAGTGCAGGGACAGGGGCACTCACACCCACCAACTCCTCTGACGCCTGCTTAGTTCTGCCGAATCTTCTGTCCTTTATAAACAACCCGGCACTCAGATCACCAACCATGTGCCAGGCACTGTGCTGGTTTCTGTGACCTTAAAGGTAGTAAGGTCATCACTGCCTAGAGTTTCACAACCCAGCAGAAATAAGAGTAATTTTGAACAATCCCTCAGAAATACCTCCAGGACACACTCTCTAGTTCTCCTCTCCTGCAGGGTTAGCTCGGCAACGTACACCTGGAGTCTGCATGTAACGAACACGTAGCCCTAGCATCCTCCCCATCAAGAGCAGGGAAGGCGAAAAAGGAGCCGAACTCCTGCCTGACTTCAGAAGCTGAAGGATTTCCTGTTTGCTCTGGTTGTTTGTGTAAATGGTCTCTTTGTCTGGCTAAATCCTAGTTACACTCAGAGAACAAGAAGGTCATCCAGCCCCGAAAGTCCCATTTGCATCAAATCAGGGTGTTGAGGCTGCGAGGTCTGCCTGGCCCTATGCTGGCTTGGTTTACAAAAGACCTATAAAATTGGCACCACAAGTTAAGGTCCTGTCACTGCAGTGGTTCCCTGGGGGATCAGCAGGGTCTCTGGGAGACAAGGCAGCAGGGGATTTCCTAGACTCCTCTTTTTTTTTTTTTTCCCTTTGAGATGGAATCTCTCTGTTGCACAGGCTGGAGCACAGTGGCGCAATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCTCCTGGCCCCTAGACTCCTCTTACTTGGGACCAGCCTTAAAATACCCAGGAGCCTGGGGTGTCAGGAGTCCACCCCAGGAGTCTGCCATGTTGGGAAATGCTTGATAAAACCCACTGTTCCCAGGACGTTTGTGGAAAACAAGTCAGGTGGGAAAGGCAGAGGACCCCCGCAGCAAGCACAGCAATCAGAACAGCCACACCGCAGCCAGATGCCAGCACAACCCGGGTACCTTTCCATTTCAGTGCACCATAAGATGTCCTCTTTCTCATTCATGAAGACAGGAAAATGCTGGTCTTTGCCCTGCTTTATGGAGTTTGACCTCGTAGTAATGGTCCTCACTTTGCTGAACTAGATGAAGAGGAGAAAAGAGGAATAAGCACGAATTCATTCACCAGCCAACACTGGTCATGCGTCTACCAAATATGCCAGGTACTCGCCAAACCCTGACAGGGCCTGGTCCACCCAGGGGGCTGGGTATGGCTCTGAGTGAGCAGAGTTCGCAGGGCAGGAGCCTCCACAGACCCCACAGCCTCACTTTTCTTCCTACTTGGAGGTCACCTGGCCAATCTTAGATCCATCTAGCCACAGACTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGACTGCAGTGGTGCGATCTCAGCTCACTGTAACCTCCACCTCCCGGGTTCAAGCGATTCTAATGCCTCAGACTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCTGGCTAATTTTTATATTTTTAGTCAGACAGGGTTTCACCGTGTCGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTATTGGGATTATAGGCGTGAGCCACCGCACCCGGCCTAGCCACAGACTTTAGAAGTAGAAGCTGTAGCCACTGTACTTTCCAAGTCTTCCAAA
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CCCTGGAGCCAACAATGCCATCCCTTCCTACTACTGACGCCAGGCCGCCTGCCTTGTAGGAAGTAGAACAAAGTGTTGAGCACTTGGGGCTCCAGGTGCTGCTGACTCGAGGTAAGAGCACAGCTATCATCAGACCAAGTACTAGAAAAGAAATACACACCACTCCAATCACACACACAAGGAGAGAGACGGCCGGTCCTCCCTCCAGCCCTGACACACCCGACTCAAGAGGAGGGGAAGTAGAAGAGAAGAGTGACAAGCCCAGAAGGCAGACCTTGGGGACTCCCTGGCCGCCCAGCTGTCACCATGCCCAGTGGCCCACCTGGCCCGAGGGGTGGGAGCCAGGGCACCAGAGCCACCGCTAACTCAGAAGCACCCTGCTCCCGCACCTTGGTTTGAAACCTAAAGGGAAGGGTGTTGGGTTTTTGTTTTCTTAAAGAAAATCTTAAAACAAACATAATTATAACCAGAACCATAAGAATAATTATAATAAAAGGTGTCATCAGCCTCCCAGTATAAAACTGCAGCCTTTGGAGATGACCAAAAACATCACATTCCAGGGGCCGGGAGCCGCCTTGTGCACAGAGGGGTGGATGGTGGGGGCCTCATAAAAGAACACACAAAAGGCGACTTAGACAGGAAAGCACCAGTACGTTTTGTATGTTTTTTTATTTGCTCCAGGTGGGGTTTTGACTGTCACTTTCCCACACTCTGGATTAGTTCTGATCCCACCACAAGGAGCCCTCGAATTGGCTAAAGTGAGAAACTGGGCCTGAAGACTCCGTACCCTCTGCCATCTTGCCGAGGGAGTCTCCTTTTAGAAAACAATCAAAGGGTTATTGCATGAGTCTGGATGAATCCCACTCTCAGCTGTCCACGGGCCCGACCACCTCATCTAGCCCCCTTTTTGGCAGGGAGAACCTGGCTCCCAAGTTCTCCTCCTTCACTTCGTTACAAACCAAGGGGAAGAGCCCACCGTGAGAACGCGCCATCTGCAAGCTGTCTCCCTTTCTCCATCCTTGGTGAAACCCTTTGCGCAGAAGGCAACGTGGAAGCTGATGTTTTTACTCATCTCGCTGTTTGAAAGCACCATTATGAAGTCGGGTTGTACAGTAGTTAACAGTACCTTTTATATATATATCTCATATCTATCATATATATATAAACTGTAAACAAGAGGTAACAGCGGCTTCTAGAAACTGATTTTCTTCAAGGTTTCCTGTGTGGTAGGCACCTGAAATACTGTAGAAAAATGTCTTGTGTGGTGTTCTCGTCTCCCTGCTGCTAACTGGGTTCTGTTTTGCGTGACCAGGAATGGTGCTGGCACGACAGCTCAGTGGCTGGGAGGGAATGCTGCCGCCTGAGTGTCTCTCTCTTTCCGTCCCCTGCTTGTGCTCCTATCTGATCAGGCTAGAGACAACAAAAAAAAGATATATAGTAAAAAAAAAAACCCAAAAAAAAAAAACAAAAAACAAAAAAAAAAACAACCCAATATATAGATTTCTATAGAATTTCCTTTTTTCCTCTCTCCCACCTTTCCTCTGCAAGGTATTGTTACTATTTTTTGTTACTGATTTTTGCTGCAATAACCTTCTTGTTTCAGTCACAGCAAGAAACAAAACCCAAACAAACAGAAAACCCCTCTGAAAAGAGTAGAAAATAAAAGGTCTGACCGAAAAAAAAGGGAAGGGGGAGGAAGGGAAGGGAGCTTGGTTTTGTTTTTAAATAGGACTGAAGAATAACATTGAAAAATCAGGAGATGATGTCCAACCCTTTTCGCAAGGCAAAGCCCTCCGGTATTTCCGCCTCTGTGGTTTTTGTTTTAAATTCCTTTTTCTCTTCTGGGTGCTGATACTTCTCTCCATCCTCATGTTCTTGGTGTTTTATTATGTTTTGTGTTTTTTGTTTGTTTGTTTAACTTTGTGTCGCTACCTCAGTTTGCCCCCATGTCCCTTACACACACGCAAAATACTCCTTCAGCGGAGCGAAGAGGTGGCGGATGACTGGCACGCTCCATGACCGGCCCAGCAGTCTCTGCCTCGCCAAGCAGCTCATGTTGGAGACGTCAGTATAGTGGACTGGGAAACCAAATACCCTGGGGGAGAAAAGGCAGAGAGGGCAGGGTGAGTGCTGGCCAGACCAGGCTGCCCGGAAGCCGTCTAACCACACAGCAGGACCCGGAGGACCAGCAGCCACCCGAAGTGCAGGGACAGGGGCACTCACACCCACCAACTCCTCTGACGCCTGCTTAGTTCTGCCGAATCTTCTGTCCTTTATAAACAACCCGGCACTCAGATCACCAACCATGTGCCAGGCACTGTGCTGGTTTCTGTGACCTTAAAGGTAGTAAGGTCATCACTGCCTAGAGTTTCACAACCCAGCAGAAATAAGAGTAATTTTGAACAATCCCTCAGAAATACCTCCAGGACACACTCTCTAGTTCTCCTCTCCTGCAGGGTTAGCTCGGCAACGTACACCTGGAGTCTGCATGTAACGAACACGTAGCCCTAGCATCCTCCCCATCAAGAGCAGGGAAGGCGAAAAAGGAGCCGAACTCCTGCCTGACTTCAGAAGCTGAAGGATTTCCTGTTTGCTCTGGTTGTTTGTGTAAATGGTCTCTTTGTCTGGCTAAATCCTAGTTACACTCAGAGAACAAGAAGGTCATCCAGCCCCGAAAGTCCCATTTGCATCAAATCAGGGTGTTGAGGCTGCGAGGTCTGCCTGGCCCTATGCTGGCTTGGTTTACAAAAGACCTATAAAATTGGCACCACAAGTTAAGGTCCTGTCACTGCAGTGGTTCCCTGGGGGATCAGCAGGGTCTCTGGGAGACAAGGCAGCAGGGGATTTCCTAGACTCCTCTTTTTTTTTTTTTTCCCTTTGAGATGGAATCTCTCTGTTGCACAGGCTGGAGCACAGTGGCGCAATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCTCCTGGCCCCTAGACTCCTCTTACTTGGGACCAGCCTTAAAATACCCAGGAGCCTGGGGTGTCAGGAGTCCACCCCAGGAGTCTGCCATGTTGGGAAATGCTTGATAAAACCCACTGTTCCCAGGACGTTTGTGGAAAACAAGTCAGGTGGGAAAGGCAGAGGACCCCCGCAGCAAGCACAGCAATCAGAACAGCCACACCGCAGCCAGATGCCAGCACAACCCGGGTACCTTTCCATTTCAGTGCACCATAAGATGTCCTCTTTCTCATTCATGAAGACAGGAAAATGCTGGTCTTTGCCCTGCTTTATGGAGTTTGACCTCGTAGTAATGGTCCTCACTTTGCTGAACTAGATGAAGAGGAGAAAAGAGGAATAAGCACGAATTCATTCACCAGCCAACACTGGTCATGCGTCTACCAAATATGCCAGGTACTCGCCAAACCCTGACAGGGCCTGGTCCACCCAGGGGGCTGGGTATGGCTCTGAGTGAGCAGAGTTCGCAGGGCAGGAGCCTCCACAGACCCCACAGCCTCACTTTTCTTCCTACTTGGAGGTCACCTGGCCAATCTTAGATCCATCTAGCCACAGACTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGACTGCAGTGGTGCGATCTCAGCTCACTGTAACCTCCACCTCCCGGGTTCAAGCGATTCTAATGCCTCAGACTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCTGGCTAATTTTTATATTTTTAGTCAGACAGGGTTTCACCGTGTCGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTATTGGGATTATAGGCGTGAGCCACCGCACCCGGCCTAGCCACAGACTTTAGAAGTAGAAGCTGTAGCCACTGTACTTTCCAAGTCTTCCAAA
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Task1_train_3152
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This gene mutation involves DNMT3A (DNA methyltransferase 3 alpha) on Chromosome 2. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Neurodevelopmental disorder
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CCCTGGAGCCAACAATGCCATCCCTTCCTACTACTGACGCCAGGCCGCCTGCCTTGTAGGAAGTAGAACAAAGTGTTGAGCACTTGGGGCTCCAGGTGCTGCTGACTCGAGGTAAGAGCACAGCTATCATCAGACCAAGTACTAGAAAAGAAATACACACCACTCCAATCACACACACAAGGAGAGAGACGGCCGGTCCTCCCTCCAGCCCTGACACACCCGACTCAAGAGGAGGGGAAGTAGAAGAGAAGAGTGACAAGCCCAGAAGGCAGACCTTGGGGACTCCCTGGCCGCCCAGCTGTCACCATGCCCAGTGGCCCACCTGGCCCGAGGGGTGGGAGCCAGGGCACCAGAGCCACCGCTAACTCAGAAGCACCCTGCTCCCGCACCTTGGTTTGAAACCTAAAGGGAAGGGTGTTGGGTTTTTGTTTTCTTAAAGAAAATCTTAAAACAAACATAATTATAACCAGAACCATAAGAATAATTATAATAAAAGGTGTCATCAGCCTCCCAGTATAAAACTGCAGCCTTTGGAGATGACCAAAAACATCACATTCCAGGGGCCGGGAGCCGCCTTGTGCACAGAGGGGTGGATGGTGGGGGCCTCATAAAAGAACACACAAAAGGCGACTTAGACAGGAAAGCACCAGTACGTTTTGTATGTTTTTTTATTTGCTCCAGGTGGGGTTTTGACTGTCACTTTCCCACACTCTGGATTAGTTCTGATCCCACCACAAGGAGCCCTCGAATTGGCTAAAGTGAGAAACTGGGCCTGAAGACTCCGTACCCTCTGCCATCTTGCCGAGGGAGTCTCCTTTTAGAAAACAATCAAAGGGTTATTGCATGAGTCTGGATGAATCCCACTCTCAGCTGTCCACGGGCCCGACCACCTCATCTAGCCCCCTTTTTGGCAGGGAGAACCTGGCTCCCAAGTTCTCCTCCTTCACTTCGTTACAAACCAAGGGGAAGAGCCCACCGTGAGAACGCGCCATCTGCAAGCTGTCTCCCTTTCTCCATCCTTGGTGAAACCCTTTGCGCAGAAGGCAACGTGGAAGCTGATGTTTTTACTCATCTCGCTGTTTGAAAGCACCATTATGAAGTCGGGTTGTACAGTAGTTAACAGTACCTTTTATATATATATCTCATATCTATCATATATATATAAACTGTAAACAAGAGGTAACAGCGGCTTCTAGAAACTGATTTTCTTCAAGGTTTCCTGTGTGGTAGGCACCTGAAATACTGTAGAAAAATGTCTTGTGTGGTGTTCTCGTCTCCCTGCTGCTAACTGGGTTCTGTTTTGCGTGACCAGGAATGGTGCTGGCACGACAGCTCAGTGGCTGGGAGGGAATGCTGCCGCCTGAGTGTCTCTCTCTTTCCGTCCCCTGCTTGTGCTCCTATCTGATCAGGCTAGAGACAACAAAAAAAAGATATATAGTAAAAAAAAAAACCCAAAAAAAAAAAACAAAAAACAAAAAAAAAAACAACCCAATATATAGATTTCTATAGAATTTCCTTTTTTCCTCTCTCCCACCTTTCCTCTGCAAGGTATTGTTACTATTTTTTGTTACTGATTTTTGCTGCAATAACCTTCTTGTTTCAGTCACAGCAAGAAACAAAACCCAAACAAACAGAAAACCCCTCTGAAAAGAGTAGAAAATAAAAGGTCTGACCGAAAAAAAAGGGAAGGGGGAGGAAGGGAAGGGAGCTTGGTTTTGTTTTTAAATAGGACTGAAGAATAACATTGAAAAATCAGGAGATGATGTCCAACCCTTTTCGCAAGGCAAAGCCCTCCGGTATTTCCGCCTCTGTGGTTTTTGTTTTAAATTCCTTTTTCTCTTCTGGGTGCTGATACTTCTCTCCATCCTCATGTTCTTGGTGTTTTATTATGTTTTGTGTTTTTTGTTTGTTTGTTTAACTTTGTGTCGCTACCTCAGTTTGCCCCCATGTCCCTTACACACACGCAAAATACTCCTTCAGCGGAGCGAAGAGGTGGCGGATGACTGGCACGCTCCATGACCGGCCCAGCAGTCTCTGCCTCGCCAAGCGGCTCATGTTGGAGACGTCAGTATAGTGGACTGGGAAACCAAATACCCTGGGGGAGAAAAGGCAGAGAGGGCAGGGTGAGTGCTGGCCAGACCAGGCTGCCCGGAAGCCGTCTAACCACACAGCAGGACCCGGAGGACCAGCAGCCACCCGAAGTGCAGGGACAGGGGCACTCACACCCACCAACTCCTCTGACGCCTGCTTAGTTCTGCCGAATCTTCTGTCCTTTATAAACAACCCGGCACTCAGATCACCAACCATGTGCCAGGCACTGTGCTGGTTTCTGTGACCTTAAAGGTAGTAAGGTCATCACTGCCTAGAGTTTCACAACCCAGCAGAAATAAGAGTAATTTTGAACAATCCCTCAGAAATACCTCCAGGACACACTCTCTAGTTCTCCTCTCCTGCAGGGTTAGCTCGGCAACGTACACCTGGAGTCTGCATGTAACGAACACGTAGCCCTAGCATCCTCCCCATCAAGAGCAGGGAAGGCGAAAAAGGAGCCGAACTCCTGCCTGACTTCAGAAGCTGAAGGATTTCCTGTTTGCTCTGGTTGTTTGTGTAAATGGTCTCTTTGTCTGGCTAAATCCTAGTTACACTCAGAGAACAAGAAGGTCATCCAGCCCCGAAAGTCCCATTTGCATCAAATCAGGGTGTTGAGGCTGCGAGGTCTGCCTGGCCCTATGCTGGCTTGGTTTACAAAAGACCTATAAAATTGGCACCACAAGTTAAGGTCCTGTCACTGCAGTGGTTCCCTGGGGGATCAGCAGGGTCTCTGGGAGACAAGGCAGCAGGGGATTTCCTAGACTCCTCTTTTTTTTTTTTTTCCCTTTGAGATGGAATCTCTCTGTTGCACAGGCTGGAGCACAGTGGCGCAATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCTCCTGGCCCCTAGACTCCTCTTACTTGGGACCAGCCTTAAAATACCCAGGAGCCTGGGGTGTCAGGAGTCCACCCCAGGAGTCTGCCATGTTGGGAAATGCTTGATAAAACCCACTGTTCCCAGGACGTTTGTGGAAAACAAGTCAGGTGGGAAAGGCAGAGGACCCCCGCAGCAAGCACAGCAATCAGAACAGCCACACCGCAGCCAGATGCCAGCACAACCCGGGTACCTTTCCATTTCAGTGCACCATAAGATGTCCTCTTTCTCATTCATGAAGACAGGAAAATGCTGGTCTTTGCCCTGCTTTATGGAGTTTGACCTCGTAGTAATGGTCCTCACTTTGCTGAACTAGATGAAGAGGAGAAAAGAGGAATAAGCACGAATTCATTCACCAGCCAACACTGGTCATGCGTCTACCAAATATGCCAGGTACTCGCCAAACCCTGACAGGGCCTGGTCCACCCAGGGGGCTGGGTATGGCTCTGAGTGAGCAGAGTTCGCAGGGCAGGAGCCTCCACAGACCCCACAGCCTCACTTTTCTTCCTACTTGGAGGTCACCTGGCCAATCTTAGATCCATCTAGCCACAGACTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGACTGCAGTGGTGCGATCTCAGCTCACTGTAACCTCCACCTCCCGGGTTCAAGCGATTCTAATGCCTCAGACTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCTGGCTAATTTTTATATTTTTAGTCAGACAGGGTTTCACCGTGTCGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTATTGGGATTATAGGCGTGAGCCACCGCACCCGGCCTAGCCACAGACTTTAGAAGTAGAAGCTGTAGCCACTGTACTTTCCAAGTCTTCCAAA
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CCCTGGAGCCAACAATGCCATCCCTTCCTACTACTGACGCCAGGCCGCCTGCCTTGTAGGAAGTAGAACAAAGTGTTGAGCACTTGGGGCTCCAGGTGCTGCTGACTCGAGGTAAGAGCACAGCTATCATCAGACCAAGTACTAGAAAAGAAATACACACCACTCCAATCACACACACAAGGAGAGAGACGGCCGGTCCTCCCTCCAGCCCTGACACACCCGACTCAAGAGGAGGGGAAGTAGAAGAGAAGAGTGACAAGCCCAGAAGGCAGACCTTGGGGACTCCCTGGCCGCCCAGCTGTCACCATGCCCAGTGGCCCACCTGGCCCGAGGGGTGGGAGCCAGGGCACCAGAGCCACCGCTAACTCAGAAGCACCCTGCTCCCGCACCTTGGTTTGAAACCTAAAGGGAAGGGTGTTGGGTTTTTGTTTTCTTAAAGAAAATCTTAAAACAAACATAATTATAACCAGAACCATAAGAATAATTATAATAAAAGGTGTCATCAGCCTCCCAGTATAAAACTGCAGCCTTTGGAGATGACCAAAAACATCACATTCCAGGGGCCGGGAGCCGCCTTGTGCACAGAGGGGTGGATGGTGGGGGCCTCATAAAAGAACACACAAAAGGCGACTTAGACAGGAAAGCACCAGTACGTTTTGTATGTTTTTTTATTTGCTCCAGGTGGGGTTTTGACTGTCACTTTCCCACACTCTGGATTAGTTCTGATCCCACCACAAGGAGCCCTCGAATTGGCTAAAGTGAGAAACTGGGCCTGAAGACTCCGTACCCTCTGCCATCTTGCCGAGGGAGTCTCCTTTTAGAAAACAATCAAAGGGTTATTGCATGAGTCTGGATGAATCCCACTCTCAGCTGTCCACGGGCCCGACCACCTCATCTAGCCCCCTTTTTGGCAGGGAGAACCTGGCTCCCAAGTTCTCCTCCTTCACTTCGTTACAAACCAAGGGGAAGAGCCCACCGTGAGAACGCGCCATCTGCAAGCTGTCTCCCTTTCTCCATCCTTGGTGAAACCCTTTGCGCAGAAGGCAACGTGGAAGCTGATGTTTTTACTCATCTCGCTGTTTGAAAGCACCATTATGAAGTCGGGTTGTACAGTAGTTAACAGTACCTTTTATATATATATCTCATATCTATCATATATATATAAACTGTAAACAAGAGGTAACAGCGGCTTCTAGAAACTGATTTTCTTCAAGGTTTCCTGTGTGGTAGGCACCTGAAATACTGTAGAAAAATGTCTTGTGTGGTGTTCTCGTCTCCCTGCTGCTAACTGGGTTCTGTTTTGCGTGACCAGGAATGGTGCTGGCACGACAGCTCAGTGGCTGGGAGGGAATGCTGCCGCCTGAGTGTCTCTCTCTTTCCGTCCCCTGCTTGTGCTCCTATCTGATCAGGCTAGAGACAACAAAAAAAAGATATATAGTAAAAAAAAAAACCCAAAAAAAAAAAACAAAAAACAAAAAAAAAAACAACCCAATATATAGATTTCTATAGAATTTCCTTTTTTCCTCTCTCCCACCTTTCCTCTGCAAGGTATTGTTACTATTTTTTGTTACTGATTTTTGCTGCAATAACCTTCTTGTTTCAGTCACAGCAAGAAACAAAACCCAAACAAACAGAAAACCCCTCTGAAAAGAGTAGAAAATAAAAGGTCTGACCGAAAAAAAAGGGAAGGGGGAGGAAGGGAAGGGAGCTTGGTTTTGTTTTTAAATAGGACTGAAGAATAACATTGAAAAATCAGGAGATGATGTCCAACCCTTTTCGCAAGGCAAAGCCCTCCGGTATTTCCGCCTCTGTGGTTTTTGTTTTAAATTCCTTTTTCTCTTCTGGGTGCTGATACTTCTCTCCATCCTCATGTTCTTGGTGTTTTATTATGTTTTGTGTTTTTTGTTTGTTTGTTTAACTTTGTGTCGCTACCTCAGTTTGCCCCCATGTCCCTTACACACACGCAAAATACTCCTTCAGCGGAGCGAAGAGGTGGCGGATGACTGGCACGCTCCATGACCGGCCCAGCAGTCTCTGCCTCGCCAAGCAGCTCATGTTGGAGACGTCAGTATAGTGGACTGGGAAACCAAATACCCTGGGGGAGAAAAGGCAGAGAGGGCAGGGTGAGTGCTGGCCAGACCAGGCTGCCCGGAAGCCGTCTAACCACACAGCAGGACCCGGAGGACCAGCAGCCACCCGAAGTGCAGGGACAGGGGCACTCACACCCACCAACTCCTCTGACGCCTGCTTAGTTCTGCCGAATCTTCTGTCCTTTATAAACAACCCGGCACTCAGATCACCAACCATGTGCCAGGCACTGTGCTGGTTTCTGTGACCTTAAAGGTAGTAAGGTCATCACTGCCTAGAGTTTCACAACCCAGCAGAAATAAGAGTAATTTTGAACAATCCCTCAGAAATACCTCCAGGACACACTCTCTAGTTCTCCTCTCCTGCAGGGTTAGCTCGGCAACGTACACCTGGAGTCTGCATGTAACGAACACGTAGCCCTAGCATCCTCCCCATCAAGAGCAGGGAAGGCGAAAAAGGAGCCGAACTCCTGCCTGACTTCAGAAGCTGAAGGATTTCCTGTTTGCTCTGGTTGTTTGTGTAAATGGTCTCTTTGTCTGGCTAAATCCTAGTTACACTCAGAGAACAAGAAGGTCATCCAGCCCCGAAAGTCCCATTTGCATCAAATCAGGGTGTTGAGGCTGCGAGGTCTGCCTGGCCCTATGCTGGCTTGGTTTACAAAAGACCTATAAAATTGGCACCACAAGTTAAGGTCCTGTCACTGCAGTGGTTCCCTGGGGGATCAGCAGGGTCTCTGGGAGACAAGGCAGCAGGGGATTTCCTAGACTCCTCTTTTTTTTTTTTTTCCCTTTGAGATGGAATCTCTCTGTTGCACAGGCTGGAGCACAGTGGCGCAATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCTCCTGGCCCCTAGACTCCTCTTACTTGGGACCAGCCTTAAAATACCCAGGAGCCTGGGGTGTCAGGAGTCCACCCCAGGAGTCTGCCATGTTGGGAAATGCTTGATAAAACCCACTGTTCCCAGGACGTTTGTGGAAAACAAGTCAGGTGGGAAAGGCAGAGGACCCCCGCAGCAAGCACAGCAATCAGAACAGCCACACCGCAGCCAGATGCCAGCACAACCCGGGTACCTTTCCATTTCAGTGCACCATAAGATGTCCTCTTTCTCATTCATGAAGACAGGAAAATGCTGGTCTTTGCCCTGCTTTATGGAGTTTGACCTCGTAGTAATGGTCCTCACTTTGCTGAACTAGATGAAGAGGAGAAAAGAGGAATAAGCACGAATTCATTCACCAGCCAACACTGGTCATGCGTCTACCAAATATGCCAGGTACTCGCCAAACCCTGACAGGGCCTGGTCCACCCAGGGGGCTGGGTATGGCTCTGAGTGAGCAGAGTTCGCAGGGCAGGAGCCTCCACAGACCCCACAGCCTCACTTTTCTTCCTACTTGGAGGTCACCTGGCCAATCTTAGATCCATCTAGCCACAGACTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGACTGCAGTGGTGCGATCTCAGCTCACTGTAACCTCCACCTCCCGGGTTCAAGCGATTCTAATGCCTCAGACTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCTGGCTAATTTTTATATTTTTAGTCAGACAGGGTTTCACCGTGTCGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTATTGGGATTATAGGCGTGAGCCACCGCACCCGGCCTAGCCACAGACTTTAGAAGTAGAAGCTGTAGCCACTGTACTTTCCAAGTCTTCCAAA
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Task1_train_3153
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A genetic alteration is present in DNMT3A (DNA methyltransferase 3 alpha) on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Acute myeloid leukemia
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CCCTGGAGCCAACAATGCCATCCCTTCCTACTACTGACGCCAGGCCGCCTGCCTTGTAGGAAGTAGAACAAAGTGTTGAGCACTTGGGGCTCCAGGTGCTGCTGACTCGAGGTAAGAGCACAGCTATCATCAGACCAAGTACTAGAAAAGAAATACACACCACTCCAATCACACACACAAGGAGAGAGACGGCCGGTCCTCCCTCCAGCCCTGACACACCCGACTCAAGAGGAGGGGAAGTAGAAGAGAAGAGTGACAAGCCCAGAAGGCAGACCTTGGGGACTCCCTGGCCGCCCAGCTGTCACCATGCCCAGTGGCCCACCTGGCCCGAGGGGTGGGAGCCAGGGCACCAGAGCCACCGCTAACTCAGAAGCACCCTGCTCCCGCACCTTGGTTTGAAACCTAAAGGGAAGGGTGTTGGGTTTTTGTTTTCTTAAAGAAAATCTTAAAACAAACATAATTATAACCAGAACCATAAGAATAATTATAATAAAAGGTGTCATCAGCCTCCCAGTATAAAACTGCAGCCTTTGGAGATGACCAAAAACATCACATTCCAGGGGCCGGGAGCCGCCTTGTGCACAGAGGGGTGGATGGTGGGGGCCTCATAAAAGAACACACAAAAGGCGACTTAGACAGGAAAGCACCAGTACGTTTTGTATGTTTTTTTATTTGCTCCAGGTGGGGTTTTGACTGTCACTTTCCCACACTCTGGATTAGTTCTGATCCCACCACAAGGAGCCCTCGAATTGGCTAAAGTGAGAAACTGGGCCTGAAGACTCCGTACCCTCTGCCATCTTGCCGAGGGAGTCTCCTTTTAGAAAACAATCAAAGGGTTATTGCATGAGTCTGGATGAATCCCACTCTCAGCTGTCCACGGGCCCGACCACCTCATCTAGCCCCCTTTTTGGCAGGGAGAACCTGGCTCCCAAGTTCTCCTCCTTCACTTCGTTACAAACCAAGGGGAAGAGCCCACCGTGAGAACGCGCCATCTGCAAGCTGTCTCCCTTTCTCCATCCTTGGTGAAACCCTTTGCGCAGAAGGCAACGTGGAAGCTGATGTTTTTACTCATCTCGCTGTTTGAAAGCACCATTATGAAGTCGGGTTGTACAGTAGTTAACAGTACCTTTTATATATATATCTCATATCTATCATATATATATAAACTGTAAACAAGAGGTAACAGCGGCTTCTAGAAACTGATTTTCTTCAAGGTTTCCTGTGTGGTAGGCACCTGAAATACTGTAGAAAAATGTCTTGTGTGGTGTTCTCGTCTCCCTGCTGCTAACTGGGTTCTGTTTTGCGTGACCAGGAATGGTGCTGGCACGACAGCTCAGTGGCTGGGAGGGAATGCTGCCGCCTGAGTGTCTCTCTCTTTCCGTCCCCTGCTTGTGCTCCTATCTGATCAGGCTAGAGACAACAAAAAAAAGATATATAGTAAAAAAAAAAACCCAAAAAAAAAAAACAAAAAACAAAAAAAAAAACAACCCAATATATAGATTTCTATAGAATTTCCTTTTTTCCTCTCTCCCACCTTTCCTCTGCAAGGTATTGTTACTATTTTTTGTTACTGATTTTTGCTGCAATAACCTTCTTGTTTCAGTCACAGCAAGAAACAAAACCCAAACAAACAGAAAACCCCTCTGAAAAGAGTAGAAAATAAAAGGTCTGACCGAAAAAAAAGGGAAGGGGGAGGAAGGGAAGGGAGCTTGGTTTTGTTTTTAAATAGGACTGAAGAATAACATTGAAAAATCAGGAGATGATGTCCAACCCTTTTCGCAAGGCAAAGCCCTCCGGTATTTCCGCCTCTGTGGTTTTTGTTTTAAATTCCTTTTTCTCTTCTGGGTGCTGATACTTCTCTCCATCCTCATGTTCTTGGTGTTTTATTATGTTTTGTGTTTTTTGTTTGTTTGTTTAACTTTGTGTCGCTACCTCAGTTTGCCCCCATGTCCCTTACACACACGCAAAATACTCCTTCAGCGGAGCGAAGAGGTGGCGGATGACTGGCACGCTCCATGACCGGCCCAGCAGTCTCTGCCTCGCCAAGCGGCTCATGTTGGAGACGTCAGTATAGTGGACTGGGAAACCAAATACCCTGGGGGAGAAAAGGCAGAGAGGGCAGGGTGAGTGCTGGCCAGACCAGGCTGCCCGGAAGCCGTCTAACCACACAGCAGGACCCGGAGGACCAGCAGCCACCCGAAGTGCAGGGACAGGGGCACTCACACCCACCAACTCCTCTGACGCCTGCTTAGTTCTGCCGAATCTTCTGTCCTTTATAAACAACCCGGCACTCAGATCACCAACCATGTGCCAGGCACTGTGCTGGTTTCTGTGACCTTAAAGGTAGTAAGGTCATCACTGCCTAGAGTTTCACAACCCAGCAGAAATAAGAGTAATTTTGAACAATCCCTCAGAAATACCTCCAGGACACACTCTCTAGTTCTCCTCTCCTGCAGGGTTAGCTCGGCAACGTACACCTGGAGTCTGCATGTAACGAACACGTAGCCCTAGCATCCTCCCCATCAAGAGCAGGGAAGGCGAAAAAGGAGCCGAACTCCTGCCTGACTTCAGAAGCTGAAGGATTTCCTGTTTGCTCTGGTTGTTTGTGTAAATGGTCTCTTTGTCTGGCTAAATCCTAGTTACACTCAGAGAACAAGAAGGTCATCCAGCCCCGAAAGTCCCATTTGCATCAAATCAGGGTGTTGAGGCTGCGAGGTCTGCCTGGCCCTATGCTGGCTTGGTTTACAAAAGACCTATAAAATTGGCACCACAAGTTAAGGTCCTGTCACTGCAGTGGTTCCCTGGGGGATCAGCAGGGTCTCTGGGAGACAAGGCAGCAGGGGATTTCCTAGACTCCTCTTTTTTTTTTTTTTCCCTTTGAGATGGAATCTCTCTGTTGCACAGGCTGGAGCACAGTGGCGCAATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCTCCTGGCCCCTAGACTCCTCTTACTTGGGACCAGCCTTAAAATACCCAGGAGCCTGGGGTGTCAGGAGTCCACCCCAGGAGTCTGCCATGTTGGGAAATGCTTGATAAAACCCACTGTTCCCAGGACGTTTGTGGAAAACAAGTCAGGTGGGAAAGGCAGAGGACCCCCGCAGCAAGCACAGCAATCAGAACAGCCACACCGCAGCCAGATGCCAGCACAACCCGGGTACCTTTCCATTTCAGTGCACCATAAGATGTCCTCTTTCTCATTCATGAAGACAGGAAAATGCTGGTCTTTGCCCTGCTTTATGGAGTTTGACCTCGTAGTAATGGTCCTCACTTTGCTGAACTAGATGAAGAGGAGAAAAGAGGAATAAGCACGAATTCATTCACCAGCCAACACTGGTCATGCGTCTACCAAATATGCCAGGTACTCGCCAAACCCTGACAGGGCCTGGTCCACCCAGGGGGCTGGGTATGGCTCTGAGTGAGCAGAGTTCGCAGGGCAGGAGCCTCCACAGACCCCACAGCCTCACTTTTCTTCCTACTTGGAGGTCACCTGGCCAATCTTAGATCCATCTAGCCACAGACTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGACTGCAGTGGTGCGATCTCAGCTCACTGTAACCTCCACCTCCCGGGTTCAAGCGATTCTAATGCCTCAGACTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCTGGCTAATTTTTATATTTTTAGTCAGACAGGGTTTCACCGTGTCGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTATTGGGATTATAGGCGTGAGCCACCGCACCCGGCCTAGCCACAGACTTTAGAAGTAGAAGCTGTAGCCACTGTACTTTCCAAGTCTTCCAAA
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CCCTGGAGCCAACAATGCCATCCCTTCCTACTACTGACGCCAGGCCGCCTGCCTTGTAGGAAGTAGAACAAAGTGTTGAGCACTTGGGGCTCCAGGTGCTGCTGACTCGAGGTAAGAGCACAGCTATCATCAGACCAAGTACTAGAAAAGAAATACACACCACTCCAATCACACACACAAGGAGAGAGACGGCCGGTCCTCCCTCCAGCCCTGACACACCCGACTCAAGAGGAGGGGAAGTAGAAGAGAAGAGTGACAAGCCCAGAAGGCAGACCTTGGGGACTCCCTGGCCGCCCAGCTGTCACCATGCCCAGTGGCCCACCTGGCCCGAGGGGTGGGAGCCAGGGCACCAGAGCCACCGCTAACTCAGAAGCACCCTGCTCCCGCACCTTGGTTTGAAACCTAAAGGGAAGGGTGTTGGGTTTTTGTTTTCTTAAAGAAAATCTTAAAACAAACATAATTATAACCAGAACCATAAGAATAATTATAATAAAAGGTGTCATCAGCCTCCCAGTATAAAACTGCAGCCTTTGGAGATGACCAAAAACATCACATTCCAGGGGCCGGGAGCCGCCTTGTGCACAGAGGGGTGGATGGTGGGGGCCTCATAAAAGAACACACAAAAGGCGACTTAGACAGGAAAGCACCAGTACGTTTTGTATGTTTTTTTATTTGCTCCAGGTGGGGTTTTGACTGTCACTTTCCCACACTCTGGATTAGTTCTGATCCCACCACAAGGAGCCCTCGAATTGGCTAAAGTGAGAAACTGGGCCTGAAGACTCCGTACCCTCTGCCATCTTGCCGAGGGAGTCTCCTTTTAGAAAACAATCAAAGGGTTATTGCATGAGTCTGGATGAATCCCACTCTCAGCTGTCCACGGGCCCGACCACCTCATCTAGCCCCCTTTTTGGCAGGGAGAACCTGGCTCCCAAGTTCTCCTCCTTCACTTCGTTACAAACCAAGGGGAAGAGCCCACCGTGAGAACGCGCCATCTGCAAGCTGTCTCCCTTTCTCCATCCTTGGTGAAACCCTTTGCGCAGAAGGCAACGTGGAAGCTGATGTTTTTACTCATCTCGCTGTTTGAAAGCACCATTATGAAGTCGGGTTGTACAGTAGTTAACAGTACCTTTTATATATATATCTCATATCTATCATATATATATAAACTGTAAACAAGAGGTAACAGCGGCTTCTAGAAACTGATTTTCTTCAAGGTTTCCTGTGTGGTAGGCACCTGAAATACTGTAGAAAAATGTCTTGTGTGGTGTTCTCGTCTCCCTGCTGCTAACTGGGTTCTGTTTTGCGTGACCAGGAATGGTGCTGGCACGACAGCTCAGTGGCTGGGAGGGAATGCTGCCGCCTGAGTGTCTCTCTCTTTCCGTCCCCTGCTTGTGCTCCTATCTGATCAGGCTAGAGACAACAAAAAAAAGATATATAGTAAAAAAAAAAACCCAAAAAAAAAAAACAAAAAACAAAAAAAAAAACAACCCAATATATAGATTTCTATAGAATTTCCTTTTTTCCTCTCTCCCACCTTTCCTCTGCAAGGTATTGTTACTATTTTTTGTTACTGATTTTTGCTGCAATAACCTTCTTGTTTCAGTCACAGCAAGAAACAAAACCCAAACAAACAGAAAACCCCTCTGAAAAGAGTAGAAAATAAAAGGTCTGACCGAAAAAAAAGGGAAGGGGGAGGAAGGGAAGGGAGCTTGGTTTTGTTTTTAAATAGGACTGAAGAATAACATTGAAAAATCAGGAGATGATGTCCAACCCTTTTCGCAAGGCAAAGCCCTCCGGTATTTCCGCCTCTGTGGTTTTTGTTTTAAATTCCTTTTTCTCTTCTGGGTGCTGATACTTCTCTCCATCCTCATGTTCTTGGTGTTTTATTATGTTTTGTGTTTTTTGTTTGTTTGTTTAACTTTGTGTCGCTACCTCAGTTTGCCCCCATGTCCCTTACACACACGCAAAATACTCCTTCAGCGGAGCGAAGAGGTGGCGGATGACTGGCACGCTCCATGACCGGCCCAGCAGTCTCTGCCTCGCCAAGCAGCTCATGTTGGAGACGTCAGTATAGTGGACTGGGAAACCAAATACCCTGGGGGAGAAAAGGCAGAGAGGGCAGGGTGAGTGCTGGCCAGACCAGGCTGCCCGGAAGCCGTCTAACCACACAGCAGGACCCGGAGGACCAGCAGCCACCCGAAGTGCAGGGACAGGGGCACTCACACCCACCAACTCCTCTGACGCCTGCTTAGTTCTGCCGAATCTTCTGTCCTTTATAAACAACCCGGCACTCAGATCACCAACCATGTGCCAGGCACTGTGCTGGTTTCTGTGACCTTAAAGGTAGTAAGGTCATCACTGCCTAGAGTTTCACAACCCAGCAGAAATAAGAGTAATTTTGAACAATCCCTCAGAAATACCTCCAGGACACACTCTCTAGTTCTCCTCTCCTGCAGGGTTAGCTCGGCAACGTACACCTGGAGTCTGCATGTAACGAACACGTAGCCCTAGCATCCTCCCCATCAAGAGCAGGGAAGGCGAAAAAGGAGCCGAACTCCTGCCTGACTTCAGAAGCTGAAGGATTTCCTGTTTGCTCTGGTTGTTTGTGTAAATGGTCTCTTTGTCTGGCTAAATCCTAGTTACACTCAGAGAACAAGAAGGTCATCCAGCCCCGAAAGTCCCATTTGCATCAAATCAGGGTGTTGAGGCTGCGAGGTCTGCCTGGCCCTATGCTGGCTTGGTTTACAAAAGACCTATAAAATTGGCACCACAAGTTAAGGTCCTGTCACTGCAGTGGTTCCCTGGGGGATCAGCAGGGTCTCTGGGAGACAAGGCAGCAGGGGATTTCCTAGACTCCTCTTTTTTTTTTTTTTCCCTTTGAGATGGAATCTCTCTGTTGCACAGGCTGGAGCACAGTGGCGCAATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCTCCTGGCCCCTAGACTCCTCTTACTTGGGACCAGCCTTAAAATACCCAGGAGCCTGGGGTGTCAGGAGTCCACCCCAGGAGTCTGCCATGTTGGGAAATGCTTGATAAAACCCACTGTTCCCAGGACGTTTGTGGAAAACAAGTCAGGTGGGAAAGGCAGAGGACCCCCGCAGCAAGCACAGCAATCAGAACAGCCACACCGCAGCCAGATGCCAGCACAACCCGGGTACCTTTCCATTTCAGTGCACCATAAGATGTCCTCTTTCTCATTCATGAAGACAGGAAAATGCTGGTCTTTGCCCTGCTTTATGGAGTTTGACCTCGTAGTAATGGTCCTCACTTTGCTGAACTAGATGAAGAGGAGAAAAGAGGAATAAGCACGAATTCATTCACCAGCCAACACTGGTCATGCGTCTACCAAATATGCCAGGTACTCGCCAAACCCTGACAGGGCCTGGTCCACCCAGGGGGCTGGGTATGGCTCTGAGTGAGCAGAGTTCGCAGGGCAGGAGCCTCCACAGACCCCACAGCCTCACTTTTCTTCCTACTTGGAGGTCACCTGGCCAATCTTAGATCCATCTAGCCACAGACTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGACTGCAGTGGTGCGATCTCAGCTCACTGTAACCTCCACCTCCCGGGTTCAAGCGATTCTAATGCCTCAGACTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCTGGCTAATTTTTATATTTTTAGTCAGACAGGGTTTCACCGTGTCGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTATTGGGATTATAGGCGTGAGCCACCGCACCCGGCCTAGCCACAGACTTTAGAAGTAGAAGCTGTAGCCACTGTACTTTCCAAGTCTTCCAAA
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Task1_train_3154
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This mutation occurs in DNMT3A (DNA methyltransferase 3 alpha) on Chromosome 2. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Inborn genetic diseases
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CCCTGGAGCCAACAATGCCATCCCTTCCTACTACTGACGCCAGGCCGCCTGCCTTGTAGGAAGTAGAACAAAGTGTTGAGCACTTGGGGCTCCAGGTGCTGCTGACTCGAGGTAAGAGCACAGCTATCATCAGACCAAGTACTAGAAAAGAAATACACACCACTCCAATCACACACACAAGGAGAGAGACGGCCGGTCCTCCCTCCAGCCCTGACACACCCGACTCAAGAGGAGGGGAAGTAGAAGAGAAGAGTGACAAGCCCAGAAGGCAGACCTTGGGGACTCCCTGGCCGCCCAGCTGTCACCATGCCCAGTGGCCCACCTGGCCCGAGGGGTGGGAGCCAGGGCACCAGAGCCACCGCTAACTCAGAAGCACCCTGCTCCCGCACCTTGGTTTGAAACCTAAAGGGAAGGGTGTTGGGTTTTTGTTTTCTTAAAGAAAATCTTAAAACAAACATAATTATAACCAGAACCATAAGAATAATTATAATAAAAGGTGTCATCAGCCTCCCAGTATAAAACTGCAGCCTTTGGAGATGACCAAAAACATCACATTCCAGGGGCCGGGAGCCGCCTTGTGCACAGAGGGGTGGATGGTGGGGGCCTCATAAAAGAACACACAAAAGGCGACTTAGACAGGAAAGCACCAGTACGTTTTGTATGTTTTTTTATTTGCTCCAGGTGGGGTTTTGACTGTCACTTTCCCACACTCTGGATTAGTTCTGATCCCACCACAAGGAGCCCTCGAATTGGCTAAAGTGAGAAACTGGGCCTGAAGACTCCGTACCCTCTGCCATCTTGCCGAGGGAGTCTCCTTTTAGAAAACAATCAAAGGGTTATTGCATGAGTCTGGATGAATCCCACTCTCAGCTGTCCACGGGCCCGACCACCTCATCTAGCCCCCTTTTTGGCAGGGAGAACCTGGCTCCCAAGTTCTCCTCCTTCACTTCGTTACAAACCAAGGGGAAGAGCCCACCGTGAGAACGCGCCATCTGCAAGCTGTCTCCCTTTCTCCATCCTTGGTGAAACCCTTTGCGCAGAAGGCAACGTGGAAGCTGATGTTTTTACTCATCTCGCTGTTTGAAAGCACCATTATGAAGTCGGGTTGTACAGTAGTTAACAGTACCTTTTATATATATATCTCATATCTATCATATATATATAAACTGTAAACAAGAGGTAACAGCGGCTTCTAGAAACTGATTTTCTTCAAGGTTTCCTGTGTGGTAGGCACCTGAAATACTGTAGAAAAATGTCTTGTGTGGTGTTCTCGTCTCCCTGCTGCTAACTGGGTTCTGTTTTGCGTGACCAGGAATGGTGCTGGCACGACAGCTCAGTGGCTGGGAGGGAATGCTGCCGCCTGAGTGTCTCTCTCTTTCCGTCCCCTGCTTGTGCTCCTATCTGATCAGGCTAGAGACAACAAAAAAAAGATATATAGTAAAAAAAAAAACCCAAAAAAAAAAAACAAAAAACAAAAAAAAAAACAACCCAATATATAGATTTCTATAGAATTTCCTTTTTTCCTCTCTCCCACCTTTCCTCTGCAAGGTATTGTTACTATTTTTTGTTACTGATTTTTGCTGCAATAACCTTCTTGTTTCAGTCACAGCAAGAAACAAAACCCAAACAAACAGAAAACCCCTCTGAAAAGAGTAGAAAATAAAAGGTCTGACCGAAAAAAAAGGGAAGGGGGAGGAAGGGAAGGGAGCTTGGTTTTGTTTTTAAATAGGACTGAAGAATAACATTGAAAAATCAGGAGATGATGTCCAACCCTTTTCGCAAGGCAAAGCCCTCCGGTATTTCCGCCTCTGTGGTTTTTGTTTTAAATTCCTTTTTCTCTTCTGGGTGCTGATACTTCTCTCCATCCTCATGTTCTTGGTGTTTTATTATGTTTTGTGTTTTTTGTTTGTTTGTTTAACTTTGTGTCGCTACCTCAGTTTGCCCCCATGTCCCTTACACACACGCAAAATACTCCTTCAGCGGAGCGAAGAGGTGGCGGATGACTGGCACGCTCCATGACCGGCCCAGCAGTCTCTGCCTCGCCAAGCGGCTCATGTTGGAGACGTCAGTATAGTGGACTGGGAAACCAAATACCCTGGGGGAGAAAAGGCAGAGAGGGCAGGGTGAGTGCTGGCCAGACCAGGCTGCCCGGAAGCCGTCTAACCACACAGCAGGACCCGGAGGACCAGCAGCCACCCGAAGTGCAGGGACAGGGGCACTCACACCCACCAACTCCTCTGACGCCTGCTTAGTTCTGCCGAATCTTCTGTCCTTTATAAACAACCCGGCACTCAGATCACCAACCATGTGCCAGGCACTGTGCTGGTTTCTGTGACCTTAAAGGTAGTAAGGTCATCACTGCCTAGAGTTTCACAACCCAGCAGAAATAAGAGTAATTTTGAACAATCCCTCAGAAATACCTCCAGGACACACTCTCTAGTTCTCCTCTCCTGCAGGGTTAGCTCGGCAACGTACACCTGGAGTCTGCATGTAACGAACACGTAGCCCTAGCATCCTCCCCATCAAGAGCAGGGAAGGCGAAAAAGGAGCCGAACTCCTGCCTGACTTCAGAAGCTGAAGGATTTCCTGTTTGCTCTGGTTGTTTGTGTAAATGGTCTCTTTGTCTGGCTAAATCCTAGTTACACTCAGAGAACAAGAAGGTCATCCAGCCCCGAAAGTCCCATTTGCATCAAATCAGGGTGTTGAGGCTGCGAGGTCTGCCTGGCCCTATGCTGGCTTGGTTTACAAAAGACCTATAAAATTGGCACCACAAGTTAAGGTCCTGTCACTGCAGTGGTTCCCTGGGGGATCAGCAGGGTCTCTGGGAGACAAGGCAGCAGGGGATTTCCTAGACTCCTCTTTTTTTTTTTTTTCCCTTTGAGATGGAATCTCTCTGTTGCACAGGCTGGAGCACAGTGGCGCAATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCTCCTGGCCCCTAGACTCCTCTTACTTGGGACCAGCCTTAAAATACCCAGGAGCCTGGGGTGTCAGGAGTCCACCCCAGGAGTCTGCCATGTTGGGAAATGCTTGATAAAACCCACTGTTCCCAGGACGTTTGTGGAAAACAAGTCAGGTGGGAAAGGCAGAGGACCCCCGCAGCAAGCACAGCAATCAGAACAGCCACACCGCAGCCAGATGCCAGCACAACCCGGGTACCTTTCCATTTCAGTGCACCATAAGATGTCCTCTTTCTCATTCATGAAGACAGGAAAATGCTGGTCTTTGCCCTGCTTTATGGAGTTTGACCTCGTAGTAATGGTCCTCACTTTGCTGAACTAGATGAAGAGGAGAAAAGAGGAATAAGCACGAATTCATTCACCAGCCAACACTGGTCATGCGTCTACCAAATATGCCAGGTACTCGCCAAACCCTGACAGGGCCTGGTCCACCCAGGGGGCTGGGTATGGCTCTGAGTGAGCAGAGTTCGCAGGGCAGGAGCCTCCACAGACCCCACAGCCTCACTTTTCTTCCTACTTGGAGGTCACCTGGCCAATCTTAGATCCATCTAGCCACAGACTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGACTGCAGTGGTGCGATCTCAGCTCACTGTAACCTCCACCTCCCGGGTTCAAGCGATTCTAATGCCTCAGACTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCTGGCTAATTTTTATATTTTTAGTCAGACAGGGTTTCACCGTGTCGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTATTGGGATTATAGGCGTGAGCCACCGCACCCGGCCTAGCCACAGACTTTAGAAGTAGAAGCTGTAGCCACTGTACTTTCCAAGTCTTCCAAA
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CCCTGGAGCCAACAATGCCATCCCTTCCTACTACTGACGCCAGGCCGCCTGCCTTGTAGGAAGTAGAACAAAGTGTTGAGCACTTGGGGCTCCAGGTGCTGCTGACTCGAGGTAAGAGCACAGCTATCATCAGACCAAGTACTAGAAAAGAAATACACACCACTCCAATCACACACACAAGGAGAGAGACGGCCGGTCCTCCCTCCAGCCCTGACACACCCGACTCAAGAGGAGGGGAAGTAGAAGAGAAGAGTGACAAGCCCAGAAGGCAGACCTTGGGGACTCCCTGGCCGCCCAGCTGTCACCATGCCCAGTGGCCCACCTGGCCCGAGGGGTGGGAGCCAGGGCACCAGAGCCACCGCTAACTCAGAAGCACCCTGCTCCCGCACCTTGGTTTGAAACCTAAAGGGAAGGGTGTTGGGTTTTTGTTTTCTTAAAGAAAATCTTAAAACAAACATAATTATAACCAGAACCATAAGAATAATTATAATAAAAGGTGTCATCAGCCTCCCAGTATAAAACTGCAGCCTTTGGAGATGACCAAAAACATCACATTCCAGGGGCCGGGAGCCGCCTTGTGCACAGAGGGGTGGATGGTGGGGGCCTCATAAAAGAACACACAAAAGGCGACTTAGACAGGAAAGCACCAGTACGTTTTGTATGTTTTTTTATTTGCTCCAGGTGGGGTTTTGACTGTCACTTTCCCACACTCTGGATTAGTTCTGATCCCACCACAAGGAGCCCTCGAATTGGCTAAAGTGAGAAACTGGGCCTGAAGACTCCGTACCCTCTGCCATCTTGCCGAGGGAGTCTCCTTTTAGAAAACAATCAAAGGGTTATTGCATGAGTCTGGATGAATCCCACTCTCAGCTGTCCACGGGCCCGACCACCTCATCTAGCCCCCTTTTTGGCAGGGAGAACCTGGCTCCCAAGTTCTCCTCCTTCACTTCGTTACAAACCAAGGGGAAGAGCCCACCGTGAGAACGCGCCATCTGCAAGCTGTCTCCCTTTCTCCATCCTTGGTGAAACCCTTTGCGCAGAAGGCAACGTGGAAGCTGATGTTTTTACTCATCTCGCTGTTTGAAAGCACCATTATGAAGTCGGGTTGTACAGTAGTTAACAGTACCTTTTATATATATATCTCATATCTATCATATATATATAAACTGTAAACAAGAGGTAACAGCGGCTTCTAGAAACTGATTTTCTTCAAGGTTTCCTGTGTGGTAGGCACCTGAAATACTGTAGAAAAATGTCTTGTGTGGTGTTCTCGTCTCCCTGCTGCTAACTGGGTTCTGTTTTGCGTGACCAGGAATGGTGCTGGCACGACAGCTCAGTGGCTGGGAGGGAATGCTGCCGCCTGAGTGTCTCTCTCTTTCCGTCCCCTGCTTGTGCTCCTATCTGATCAGGCTAGAGACAACAAAAAAAAGATATATAGTAAAAAAAAAAACCCAAAAAAAAAAAACAAAAAACAAAAAAAAAAACAACCCAATATATAGATTTCTATAGAATTTCCTTTTTTCCTCTCTCCCACCTTTCCTCTGCAAGGTATTGTTACTATTTTTTGTTACTGATTTTTGCTGCAATAACCTTCTTGTTTCAGTCACAGCAAGAAACAAAACCCAAACAAACAGAAAACCCCTCTGAAAAGAGTAGAAAATAAAAGGTCTGACCGAAAAAAAAGGGAAGGGGGAGGAAGGGAAGGGAGCTTGGTTTTGTTTTTAAATAGGACTGAAGAATAACATTGAAAAATCAGGAGATGATGTCCAACCCTTTTCGCAAGGCAAAGCCCTCCGGTATTTCCGCCTCTGTGGTTTTTGTTTTAAATTCCTTTTTCTCTTCTGGGTGCTGATACTTCTCTCCATCCTCATGTTCTTGGTGTTTTATTATGTTTTGTGTTTTTTGTTTGTTTGTTTAACTTTGTGTCGCTACCTCAGTTTGCCCCCATGTCCCTTACACACACGCAAAATACTCCTTCAGCGGAGCGAAGAGGTGGCGGATGACTGGCACGCTCCATGACCGGCCCAGCAGTCTCTGCCTCGCCAAGCAGCTCATGTTGGAGACGTCAGTATAGTGGACTGGGAAACCAAATACCCTGGGGGAGAAAAGGCAGAGAGGGCAGGGTGAGTGCTGGCCAGACCAGGCTGCCCGGAAGCCGTCTAACCACACAGCAGGACCCGGAGGACCAGCAGCCACCCGAAGTGCAGGGACAGGGGCACTCACACCCACCAACTCCTCTGACGCCTGCTTAGTTCTGCCGAATCTTCTGTCCTTTATAAACAACCCGGCACTCAGATCACCAACCATGTGCCAGGCACTGTGCTGGTTTCTGTGACCTTAAAGGTAGTAAGGTCATCACTGCCTAGAGTTTCACAACCCAGCAGAAATAAGAGTAATTTTGAACAATCCCTCAGAAATACCTCCAGGACACACTCTCTAGTTCTCCTCTCCTGCAGGGTTAGCTCGGCAACGTACACCTGGAGTCTGCATGTAACGAACACGTAGCCCTAGCATCCTCCCCATCAAGAGCAGGGAAGGCGAAAAAGGAGCCGAACTCCTGCCTGACTTCAGAAGCTGAAGGATTTCCTGTTTGCTCTGGTTGTTTGTGTAAATGGTCTCTTTGTCTGGCTAAATCCTAGTTACACTCAGAGAACAAGAAGGTCATCCAGCCCCGAAAGTCCCATTTGCATCAAATCAGGGTGTTGAGGCTGCGAGGTCTGCCTGGCCCTATGCTGGCTTGGTTTACAAAAGACCTATAAAATTGGCACCACAAGTTAAGGTCCTGTCACTGCAGTGGTTCCCTGGGGGATCAGCAGGGTCTCTGGGAGACAAGGCAGCAGGGGATTTCCTAGACTCCTCTTTTTTTTTTTTTTCCCTTTGAGATGGAATCTCTCTGTTGCACAGGCTGGAGCACAGTGGCGCAATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCTCCTGGCCCCTAGACTCCTCTTACTTGGGACCAGCCTTAAAATACCCAGGAGCCTGGGGTGTCAGGAGTCCACCCCAGGAGTCTGCCATGTTGGGAAATGCTTGATAAAACCCACTGTTCCCAGGACGTTTGTGGAAAACAAGTCAGGTGGGAAAGGCAGAGGACCCCCGCAGCAAGCACAGCAATCAGAACAGCCACACCGCAGCCAGATGCCAGCACAACCCGGGTACCTTTCCATTTCAGTGCACCATAAGATGTCCTCTTTCTCATTCATGAAGACAGGAAAATGCTGGTCTTTGCCCTGCTTTATGGAGTTTGACCTCGTAGTAATGGTCCTCACTTTGCTGAACTAGATGAAGAGGAGAAAAGAGGAATAAGCACGAATTCATTCACCAGCCAACACTGGTCATGCGTCTACCAAATATGCCAGGTACTCGCCAAACCCTGACAGGGCCTGGTCCACCCAGGGGGCTGGGTATGGCTCTGAGTGAGCAGAGTTCGCAGGGCAGGAGCCTCCACAGACCCCACAGCCTCACTTTTCTTCCTACTTGGAGGTCACCTGGCCAATCTTAGATCCATCTAGCCACAGACTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGACTGCAGTGGTGCGATCTCAGCTCACTGTAACCTCCACCTCCCGGGTTCAAGCGATTCTAATGCCTCAGACTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCTGGCTAATTTTTATATTTTTAGTCAGACAGGGTTTCACCGTGTCGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTATTGGGATTATAGGCGTGAGCCACCGCACCCGGCCTAGCCACAGACTTTAGAAGTAGAAGCTGTAGCCACTGTACTTTCCAAGTCTTCCAAA
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Task1_train_3155
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Consider this mutation in DNMT3A (DNA methyltransferase 3 alpha) on Chromosome 2. Is this a benign change or a disease-causing variant?
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Pathogenic; Neoplasm
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CCCTGGAGCCAACAATGCCATCCCTTCCTACTACTGACGCCAGGCCGCCTGCCTTGTAGGAAGTAGAACAAAGTGTTGAGCACTTGGGGCTCCAGGTGCTGCTGACTCGAGGTAAGAGCACAGCTATCATCAGACCAAGTACTAGAAAAGAAATACACACCACTCCAATCACACACACAAGGAGAGAGACGGCCGGTCCTCCCTCCAGCCCTGACACACCCGACTCAAGAGGAGGGGAAGTAGAAGAGAAGAGTGACAAGCCCAGAAGGCAGACCTTGGGGACTCCCTGGCCGCCCAGCTGTCACCATGCCCAGTGGCCCACCTGGCCCGAGGGGTGGGAGCCAGGGCACCAGAGCCACCGCTAACTCAGAAGCACCCTGCTCCCGCACCTTGGTTTGAAACCTAAAGGGAAGGGTGTTGGGTTTTTGTTTTCTTAAAGAAAATCTTAAAACAAACATAATTATAACCAGAACCATAAGAATAATTATAATAAAAGGTGTCATCAGCCTCCCAGTATAAAACTGCAGCCTTTGGAGATGACCAAAAACATCACATTCCAGGGGCCGGGAGCCGCCTTGTGCACAGAGGGGTGGATGGTGGGGGCCTCATAAAAGAACACACAAAAGGCGACTTAGACAGGAAAGCACCAGTACGTTTTGTATGTTTTTTTATTTGCTCCAGGTGGGGTTTTGACTGTCACTTTCCCACACTCTGGATTAGTTCTGATCCCACCACAAGGAGCCCTCGAATTGGCTAAAGTGAGAAACTGGGCCTGAAGACTCCGTACCCTCTGCCATCTTGCCGAGGGAGTCTCCTTTTAGAAAACAATCAAAGGGTTATTGCATGAGTCTGGATGAATCCCACTCTCAGCTGTCCACGGGCCCGACCACCTCATCTAGCCCCCTTTTTGGCAGGGAGAACCTGGCTCCCAAGTTCTCCTCCTTCACTTCGTTACAAACCAAGGGGAAGAGCCCACCGTGAGAACGCGCCATCTGCAAGCTGTCTCCCTTTCTCCATCCTTGGTGAAACCCTTTGCGCAGAAGGCAACGTGGAAGCTGATGTTTTTACTCATCTCGCTGTTTGAAAGCACCATTATGAAGTCGGGTTGTACAGTAGTTAACAGTACCTTTTATATATATATCTCATATCTATCATATATATATAAACTGTAAACAAGAGGTAACAGCGGCTTCTAGAAACTGATTTTCTTCAAGGTTTCCTGTGTGGTAGGCACCTGAAATACTGTAGAAAAATGTCTTGTGTGGTGTTCTCGTCTCCCTGCTGCTAACTGGGTTCTGTTTTGCGTGACCAGGAATGGTGCTGGCACGACAGCTCAGTGGCTGGGAGGGAATGCTGCCGCCTGAGTGTCTCTCTCTTTCCGTCCCCTGCTTGTGCTCCTATCTGATCAGGCTAGAGACAACAAAAAAAAGATATATAGTAAAAAAAAAAACCCAAAAAAAAAAAACAAAAAACAAAAAAAAAAACAACCCAATATATAGATTTCTATAGAATTTCCTTTTTTCCTCTCTCCCACCTTTCCTCTGCAAGGTATTGTTACTATTTTTTGTTACTGATTTTTGCTGCAATAACCTTCTTGTTTCAGTCACAGCAAGAAACAAAACCCAAACAAACAGAAAACCCCTCTGAAAAGAGTAGAAAATAAAAGGTCTGACCGAAAAAAAAGGGAAGGGGGAGGAAGGGAAGGGAGCTTGGTTTTGTTTTTAAATAGGACTGAAGAATAACATTGAAAAATCAGGAGATGATGTCCAACCCTTTTCGCAAGGCAAAGCCCTCCGGTATTTCCGCCTCTGTGGTTTTTGTTTTAAATTCCTTTTTCTCTTCTGGGTGCTGATACTTCTCTCCATCCTCATGTTCTTGGTGTTTTATTATGTTTTGTGTTTTTTGTTTGTTTGTTTAACTTTGTGTCGCTACCTCAGTTTGCCCCCATGTCCCTTACACACACGCAAAATACTCCTTCAGCGGAGCGAAGAGGTGGCGGATGACTGGCACGCTCCATGACCGGCCCAGCAGTCTCTGCCTCGCCAAGCGGCTCATGTTGGAGACGTCAGTATAGTGGACTGGGAAACCAAATACCCTGGGGGAGAAAAGGCAGAGAGGGCAGGGTGAGTGCTGGCCAGACCAGGCTGCCCGGAAGCCGTCTAACCACACAGCAGGACCCGGAGGACCAGCAGCCACCCGAAGTGCAGGGACAGGGGCACTCACACCCACCAACTCCTCTGACGCCTGCTTAGTTCTGCCGAATCTTCTGTCCTTTATAAACAACCCGGCACTCAGATCACCAACCATGTGCCAGGCACTGTGCTGGTTTCTGTGACCTTAAAGGTAGTAAGGTCATCACTGCCTAGAGTTTCACAACCCAGCAGAAATAAGAGTAATTTTGAACAATCCCTCAGAAATACCTCCAGGACACACTCTCTAGTTCTCCTCTCCTGCAGGGTTAGCTCGGCAACGTACACCTGGAGTCTGCATGTAACGAACACGTAGCCCTAGCATCCTCCCCATCAAGAGCAGGGAAGGCGAAAAAGGAGCCGAACTCCTGCCTGACTTCAGAAGCTGAAGGATTTCCTGTTTGCTCTGGTTGTTTGTGTAAATGGTCTCTTTGTCTGGCTAAATCCTAGTTACACTCAGAGAACAAGAAGGTCATCCAGCCCCGAAAGTCCCATTTGCATCAAATCAGGGTGTTGAGGCTGCGAGGTCTGCCTGGCCCTATGCTGGCTTGGTTTACAAAAGACCTATAAAATTGGCACCACAAGTTAAGGTCCTGTCACTGCAGTGGTTCCCTGGGGGATCAGCAGGGTCTCTGGGAGACAAGGCAGCAGGGGATTTCCTAGACTCCTCTTTTTTTTTTTTTTCCCTTTGAGATGGAATCTCTCTGTTGCACAGGCTGGAGCACAGTGGCGCAATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCTCCTGGCCCCTAGACTCCTCTTACTTGGGACCAGCCTTAAAATACCCAGGAGCCTGGGGTGTCAGGAGTCCACCCCAGGAGTCTGCCATGTTGGGAAATGCTTGATAAAACCCACTGTTCCCAGGACGTTTGTGGAAAACAAGTCAGGTGGGAAAGGCAGAGGACCCCCGCAGCAAGCACAGCAATCAGAACAGCCACACCGCAGCCAGATGCCAGCACAACCCGGGTACCTTTCCATTTCAGTGCACCATAAGATGTCCTCTTTCTCATTCATGAAGACAGGAAAATGCTGGTCTTTGCCCTGCTTTATGGAGTTTGACCTCGTAGTAATGGTCCTCACTTTGCTGAACTAGATGAAGAGGAGAAAAGAGGAATAAGCACGAATTCATTCACCAGCCAACACTGGTCATGCGTCTACCAAATATGCCAGGTACTCGCCAAACCCTGACAGGGCCTGGTCCACCCAGGGGGCTGGGTATGGCTCTGAGTGAGCAGAGTTCGCAGGGCAGGAGCCTCCACAGACCCCACAGCCTCACTTTTCTTCCTACTTGGAGGTCACCTGGCCAATCTTAGATCCATCTAGCCACAGACTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGACTGCAGTGGTGCGATCTCAGCTCACTGTAACCTCCACCTCCCGGGTTCAAGCGATTCTAATGCCTCAGACTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCTGGCTAATTTTTATATTTTTAGTCAGACAGGGTTTCACCGTGTCGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTATTGGGATTATAGGCGTGAGCCACCGCACCCGGCCTAGCCACAGACTTTAGAAGTAGAAGCTGTAGCCACTGTACTTTCCAAGTCTTCCAAA
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CCCTGGAGCCAACAATGCCATCCCTTCCTACTACTGACGCCAGGCCGCCTGCCTTGTAGGAAGTAGAACAAAGTGTTGAGCACTTGGGGCTCCAGGTGCTGCTGACTCGAGGTAAGAGCACAGCTATCATCAGACCAAGTACTAGAAAAGAAATACACACCACTCCAATCACACACACAAGGAGAGAGACGGCCGGTCCTCCCTCCAGCCCTGACACACCCGACTCAAGAGGAGGGGAAGTAGAAGAGAAGAGTGACAAGCCCAGAAGGCAGACCTTGGGGACTCCCTGGCCGCCCAGCTGTCACCATGCCCAGTGGCCCACCTGGCCCGAGGGGTGGGAGCCAGGGCACCAGAGCCACCGCTAACTCAGAAGCACCCTGCTCCCGCACCTTGGTTTGAAACCTAAAGGGAAGGGTGTTGGGTTTTTGTTTTCTTAAAGAAAATCTTAAAACAAACATAATTATAACCAGAACCATAAGAATAATTATAATAAAAGGTGTCATCAGCCTCCCAGTATAAAACTGCAGCCTTTGGAGATGACCAAAAACATCACATTCCAGGGGCCGGGAGCCGCCTTGTGCACAGAGGGGTGGATGGTGGGGGCCTCATAAAAGAACACACAAAAGGCGACTTAGACAGGAAAGCACCAGTACGTTTTGTATGTTTTTTTATTTGCTCCAGGTGGGGTTTTGACTGTCACTTTCCCACACTCTGGATTAGTTCTGATCCCACCACAAGGAGCCCTCGAATTGGCTAAAGTGAGAAACTGGGCCTGAAGACTCCGTACCCTCTGCCATCTTGCCGAGGGAGTCTCCTTTTAGAAAACAATCAAAGGGTTATTGCATGAGTCTGGATGAATCCCACTCTCAGCTGTCCACGGGCCCGACCACCTCATCTAGCCCCCTTTTTGGCAGGGAGAACCTGGCTCCCAAGTTCTCCTCCTTCACTTCGTTACAAACCAAGGGGAAGAGCCCACCGTGAGAACGCGCCATCTGCAAGCTGTCTCCCTTTCTCCATCCTTGGTGAAACCCTTTGCGCAGAAGGCAACGTGGAAGCTGATGTTTTTACTCATCTCGCTGTTTGAAAGCACCATTATGAAGTCGGGTTGTACAGTAGTTAACAGTACCTTTTATATATATATCTCATATCTATCATATATATATAAACTGTAAACAAGAGGTAACAGCGGCTTCTAGAAACTGATTTTCTTCAAGGTTTCCTGTGTGGTAGGCACCTGAAATACTGTAGAAAAATGTCTTGTGTGGTGTTCTCGTCTCCCTGCTGCTAACTGGGTTCTGTTTTGCGTGACCAGGAATGGTGCTGGCACGACAGCTCAGTGGCTGGGAGGGAATGCTGCCGCCTGAGTGTCTCTCTCTTTCCGTCCCCTGCTTGTGCTCCTATCTGATCAGGCTAGAGACAACAAAAAAAAGATATATAGTAAAAAAAAAAACCCAAAAAAAAAAAACAAAAAACAAAAAAAAAAACAACCCAATATATAGATTTCTATAGAATTTCCTTTTTTCCTCTCTCCCACCTTTCCTCTGCAAGGTATTGTTACTATTTTTTGTTACTGATTTTTGCTGCAATAACCTTCTTGTTTCAGTCACAGCAAGAAACAAAACCCAAACAAACAGAAAACCCCTCTGAAAAGAGTAGAAAATAAAAGGTCTGACCGAAAAAAAAGGGAAGGGGGAGGAAGGGAAGGGAGCTTGGTTTTGTTTTTAAATAGGACTGAAGAATAACATTGAAAAATCAGGAGATGATGTCCAACCCTTTTCGCAAGGCAAAGCCCTCCGGTATTTCCGCCTCTGTGGTTTTTGTTTTAAATTCCTTTTTCTCTTCTGGGTGCTGATACTTCTCTCCATCCTCATGTTCTTGGTGTTTTATTATGTTTTGTGTTTTTTGTTTGTTTGTTTAACTTTGTGTCGCTACCTCAGTTTGCCCCCATGTCCCTTACACACACGCAAAATACTCCTTCAGCGGAGCGAAGAGGTGGCGGATGACTGGCACGCTCCATGACCGGCCCAGCAGTCTCTGCCTCGCCAAGCAGCTCATGTTGGAGACGTCAGTATAGTGGACTGGGAAACCAAATACCCTGGGGGAGAAAAGGCAGAGAGGGCAGGGTGAGTGCTGGCCAGACCAGGCTGCCCGGAAGCCGTCTAACCACACAGCAGGACCCGGAGGACCAGCAGCCACCCGAAGTGCAGGGACAGGGGCACTCACACCCACCAACTCCTCTGACGCCTGCTTAGTTCTGCCGAATCTTCTGTCCTTTATAAACAACCCGGCACTCAGATCACCAACCATGTGCCAGGCACTGTGCTGGTTTCTGTGACCTTAAAGGTAGTAAGGTCATCACTGCCTAGAGTTTCACAACCCAGCAGAAATAAGAGTAATTTTGAACAATCCCTCAGAAATACCTCCAGGACACACTCTCTAGTTCTCCTCTCCTGCAGGGTTAGCTCGGCAACGTACACCTGGAGTCTGCATGTAACGAACACGTAGCCCTAGCATCCTCCCCATCAAGAGCAGGGAAGGCGAAAAAGGAGCCGAACTCCTGCCTGACTTCAGAAGCTGAAGGATTTCCTGTTTGCTCTGGTTGTTTGTGTAAATGGTCTCTTTGTCTGGCTAAATCCTAGTTACACTCAGAGAACAAGAAGGTCATCCAGCCCCGAAAGTCCCATTTGCATCAAATCAGGGTGTTGAGGCTGCGAGGTCTGCCTGGCCCTATGCTGGCTTGGTTTACAAAAGACCTATAAAATTGGCACCACAAGTTAAGGTCCTGTCACTGCAGTGGTTCCCTGGGGGATCAGCAGGGTCTCTGGGAGACAAGGCAGCAGGGGATTTCCTAGACTCCTCTTTTTTTTTTTTTTCCCTTTGAGATGGAATCTCTCTGTTGCACAGGCTGGAGCACAGTGGCGCAATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCTCCTGGCCCCTAGACTCCTCTTACTTGGGACCAGCCTTAAAATACCCAGGAGCCTGGGGTGTCAGGAGTCCACCCCAGGAGTCTGCCATGTTGGGAAATGCTTGATAAAACCCACTGTTCCCAGGACGTTTGTGGAAAACAAGTCAGGTGGGAAAGGCAGAGGACCCCCGCAGCAAGCACAGCAATCAGAACAGCCACACCGCAGCCAGATGCCAGCACAACCCGGGTACCTTTCCATTTCAGTGCACCATAAGATGTCCTCTTTCTCATTCATGAAGACAGGAAAATGCTGGTCTTTGCCCTGCTTTATGGAGTTTGACCTCGTAGTAATGGTCCTCACTTTGCTGAACTAGATGAAGAGGAGAAAAGAGGAATAAGCACGAATTCATTCACCAGCCAACACTGGTCATGCGTCTACCAAATATGCCAGGTACTCGCCAAACCCTGACAGGGCCTGGTCCACCCAGGGGGCTGGGTATGGCTCTGAGTGAGCAGAGTTCGCAGGGCAGGAGCCTCCACAGACCCCACAGCCTCACTTTTCTTCCTACTTGGAGGTCACCTGGCCAATCTTAGATCCATCTAGCCACAGACTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGACTGCAGTGGTGCGATCTCAGCTCACTGTAACCTCCACCTCCCGGGTTCAAGCGATTCTAATGCCTCAGACTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCTGGCTAATTTTTATATTTTTAGTCAGACAGGGTTTCACCGTGTCGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTATTGGGATTATAGGCGTGAGCCACCGCACCCGGCCTAGCCACAGACTTTAGAAGTAGAAGCTGTAGCCACTGTACTTTCCAAGTCTTCCAAA
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Task1_train_3156
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A mutation found in DNMT3A (DNA methyltransferase 3 alpha) on Chromosome 2 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Heyn-Sproul-Jackson syndrome
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CAACAAGCCCTCGATAGCAACTCTACCAAACATGTATGAGATGGGGAAGGTCCTACAACCTCATGGGAATAGCAAGGAGGGAGATTATTTGACCGAGGCCAGGTGAAATGATGTCTCCTAGTTATACCAAGTATACCAAGCAGCCCACCATGGAGGTTTAACACCCATGACTCAGAACACTCTGGAAAACGCTTCCCTCCACAATGGACAGGGACTGAGCGGCTCTCAGCATGCTTTTGAATTGCCAACTCTGGACAATTTATTTCGCCTAAAAAGCCTTTTTATAATGCCAGTTTTATAACTGATGAAATGAATTTTCTTCATTCCTAGATATTAAAATCTTTATCTGTGTAACCTAACTGAAGAAAATCTCTCCAAAAAAGGACCTGAAGCCAACAAAGTGTGTGATTAGTAAAATTAAGTTAAGCAGAACCCTGAACTTGCATGCAGCCGCTGCAAGATTCCCTCTCCTGGAACAGGCTGTGGCCACAACTCCCCTTCCCAGCCCCAAAGCCATGCCCCATGGCTTTGCCTCAGGAGAATCTAAGAACCAGAGGGCTCGGGACACATCACCAATGTCAGAAAACCAACTACCTAACTCAGCAGCACAGGACTCTTCTTTGGTATAAAGAGAGTACTTTTAAAGGTCCTGCTTTAAGACCACTAGTTGTTGGTTTCAGACGAGTATTTTCTATACCCTGACTCCTCTTCCTCCTCAAGGAAAAGGAAATAAGGAACATGGCAGAGCAGCTAGTCATTCAGCAGAGGCCGGCCAGAGAGGGCCCGGCTCAGGGGCTTCCCCACTATGGGTCATCCCACCTGCAGTCCCAGCCCACAGCCCCCCAGGCCCAGGAGCTTTCACCAACCTGTTCATACCGGGAAGGTTACCCCAGAAGTAGCGGGCCCTGTGTGCAGCTGACACTTCTTTGGCATCAATCATCACAGGGTTGGACTACAAAACAGGAGACGGTTTGAAGATGAGCCAAGGAGGAGCATGAAACAGCGCCGGCATGCTGCTGGGGTCGAGCCTTAAAGCCTCAAAGCCTCTTACTTCTCTCTCAGGAGCCACACACTGGGCTAGCCTGCAGCCTCCAGGAGAAGCTGGAATTACACCTAGCCACATTCCACAAGCTGTCACTGGAACGTTCTAGATCAGCATTGTCCAAATGAACTTCTGCGATGGTGGGTTGTCCTCTACACTGTTCAATTCAGTGGCCACTAGCCCACTAGTACAGGTGGCTATTTTGTACCTAAAATGAGGCCAATGTGATTGAGGAGCTGAATGGTTAATGTTAATGTAAACAGCCGCATGTGGCTGGTGGCTACCATATTGCACAGTGCTGCTCTAGACTACCCAGAGGCTGGGAGAGCCCAGGCTCCAGCGAGTATGGGTGTGTTTACCATGAGCCCTGATTAGAACTCAAACAGACGCCTGCTCACACTTACAGTCAGAACACCAGCTCACAGTGTGACCCACCCCAAGACTCAGGAGCACAGGTGGGCTCAAGCTCCCAGAAGGGCCACTCCAAGCACGCCTCTGGCAGCAGAAGCCCTCTGCACGCGGCTCAGACTTGGCTCAGGGTTAAACGGGGACTCACATGATAAGGAATGAAAACTGAGCTAAGTCTTGTTTTCTTCTCAGGTGCCTGTCATGGTACCAGGGAGTGAGGATAGGCCCTTCTTGCTCAGGGAAAACTGATTTTGTCCTCTCAAAGATCCTGGTGTGTAACAAACACCATACAGAATACCCAACCCCAGGAGTCTGGCACCCCACCTGATTGAGTGACAGGTCCTTCAACCCCGGAGGTCCACACCCACAATGCCACCTCTTAGAGTGAGACCACTGGTTCTTTCCGAGGTAGGCCTCTAACCCTGCTTCCTCCCTTTCTATCCAGGAAGCCTGGGGCTTCCCAAACAGGCCCCTTGCAAAGCAGAAGTCACCAGTCCCCAGCTCCACAATGCAGATGAGACAGGATGAAGCAGCAGTCCAAGGTAGAAGCCATTAGTGAGCTGGCCAAACCAAGGTTGCTGGCTATACCTCGAGAAATCGCGAGATGTCCCTCTTGTCACTAACGCCCATGGCCACCACATTCTCAAAGAGCCAGAAGAAGGGGCGATCATCTCCCTCCTTGGGCCGCGCATCATGCAGGAGGCGGTAGAACTCAAAGAAGAGCCGGCCAGTGCCCTCTGAGAGGTCGGAAGAGAAAGCCATCAGCTGGGGCTGTCTGCATAGGACAGTGGTGTGGCTCGGGCACGGGGAGGGCACGGGAAGACAGGGTCATCGGGAATAGCTGTCCCAGGGCAGAAATATCCAAGGAGGAAGCCTATGTGCGGAAGCACCAGCTGAGAAGGTGGAGGGGACAGGATGGTACCTACCGTAGAGGCCCTTGCGAGCAGGGTTGACGATGGAGAGGTCATTGCAGGGACTGCCCCCAATCACCAGATCGAATGGGCCCCACTCCTGGATCTGGGAGGATAAAGGCAACGTGATGGGCCTGCTGTCCAGGGACAGAGGCAGACAGGAAGAAAGAGAAATTATCTGTGAACTTGGCAAAGAAGTCCTTTGACACGAAAGAGAGGAGACCCAGCTGCTCTGCAGGCTCACGACCCTAGCTGCAACCATGGACAAGTCCTAAACAAGAACGGGACCAAGTTGGATCATTTCTTAGGCCAATGGGGAAACTAGTATCACCCAGGCAGGCAACACAGCCACCCACTGGGAAGGTGACCCAAGTGGACGGCTGAGTCTGAAGGTACCTGGCATGCTGAGTGTCTTAGGCAGGGTGTCTGGGCCATGTGAATGTCCTCCAGTTGCCCTTCAGGACTCCAGAGGGCCTGTAGTCATGCTTAAGGGAAGACCCTGCCTGAGCCTCCCAGATATGGAAGCTGATAAAGCTATTTGCCAAAAGTATTGGGAGGACAGGAACCTCTCTCTAATCCAAAGAGCTCTACTAGAAACTGTCCAGAAACCAGCCCAGGGAGTAGCCAGAGCTCAAGTAGGCACTATGTTGCCCAAGCTAGTCTTAAACCCCTGGCCTCAAGGGATTCTCCTACCTTGGCCTCCCAAAGTGCTGGCATTATAGGCATGAGCCACCATGCCTAGCCCAAATTCCCATTTCAATTTGCCCTTTACCCTCTCAAGACAGAGGACAAATGGAAGATAAGGAGAAAAAGAGGCTGGGGCAAAGGGTGAAGAGAAAGAGGGCAAATGAACAAAATGAAAGGAGGCAAGGGCTGCCTCCAGGTGCTGAGTGTGCAGGGAGGGGAAGACGGGCTGCGCCCCACAGCATGGACATACATGCTTCTGTGTGACGCTGCGGACGTCCCCGACGTACATGATCTTCCCCTGGTGCCGCACCATGCCCACCGTGATGGAGTCCTCACACACCTCCGAGGCAATGTAGCGGTCCACCTGAATGCCCAAGTCCTTCAGCACCAGGAGCCCTGCACCAGCCAGCAGACAGCACCGTTACTTGGAGCCATCTCCCTGGCACCCTGGTCTCGGCAGGTGAGCCTGCTGGCCAACAGGACCCATGGGGTCAGCTGTAGGCCCAAGTCCTATCTTTTCCCTGAAGATGCCTTAAATCCTTTCTGGATCCAACTGGAGTATCCATAGTAAGGACATCGAGGCTCTGTCTCATGCCTCGTTTGGCCTATCTGGAAGGCAGTCAAAGCTGCAGAAAACTGACCGGAGAGTACATGGTTCCAGGATCCAGGAAGAATCACAGCTGACTTTTTGGGGGCCTTTTCTTTGTTGTTGTCCGTCTACAACTTGGTCCTTCCATACCCTCTTATCACCTCCTGCTACAATTCTACCCCACCCTTTGACTCAACCTGAATGTTCCCTGCTCCACAAAGGTTTCATAAATGCCCTGCCCCACCCAGTAGCCCCTGGAATCACCGCCCCCTCCGCTATGAGTCCCCAGCTCTGTGCATCCCTTGCCTCCCCATCAGAGCAGTTTCCATTCCTCACTCAGCCCTCTCGTGGATTGCAAAGGCTCTTCCAGACAGAGGAGGCCTCCTTCATTGTGCTTCCCCCGAGCTAACCACACAGATTTCCTTACCACGATCCCTCCCCCTCCAGAAATGCTAGCCG
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CAACAAGCCCTCGATAGCAACTCTACCAAACATGTATGAGATGGGGAAGGTCCTACAACCTCATGGGAATAGCAAGGAGGGAGATTATTTGACCGAGGCCAGGTGAAATGATGTCTCCTAGTTATACCAAGTATACCAAGCAGCCCACCATGGAGGTTTAACACCCATGACTCAGAACACTCTGGAAAACGCTTCCCTCCACAATGGACAGGGACTGAGCGGCTCTCAGCATGCTTTTGAATTGCCAACTCTGGACAATTTATTTCGCCTAAAAAGCCTTTTTATAATGCCAGTTTTATAACTGATGAAATGAATTTTCTTCATTCCTAGATATTAAAATCTTTATCTGTGTAACCTAACTGAAGAAAATCTCTCCAAAAAAGGACCTGAAGCCAACAAAGTGTGTGATTAGTAAAATTAAGTTAAGCAGAACCCTGAACTTGCATGCAGCCGCTGCAAGATTCCCTCTCCTGGAACAGGCTGTGGCCACAACTCCCCTTCCCAGCCCCAAAGCCATGCCCCATGGCTTTGCCTCAGGAGAATCTAAGAACCAGAGGGCTCGGGACACATCACCAATGTCAGAAAACCAACTACCTAACTCAGCAGCACAGGACTCTTCTTTGGTATAAAGAGAGTACTTTTAAAGGTCCTGCTTTAAGACCACTAGTTGTTGGTTTCAGACGAGTATTTTCTATACCCTGACTCCTCTTCCTCCTCAAGGAAAAGGAAATAAGGAACATGGCAGAGCAGCTAGTCATTCAGCAGAGGCCGGCCAGAGAGGGCCCGGCTCAGGGGCTTCCCCACTATGGGTCATCCCACCTGCAGTCCCAGCCCACAGCCCCCCAGGCCCAGGAGCTTTCACCAACCTGTTCATACCGGGAAGGTTACCCCAGAAGTAGCGGGCCCTGTGTGCAGCTGACACTTCTTTGGCATCAATCATCACAGGGTTGGACTACAAAACAGGAGACGGTTTGAAGATGAGCCAAGGAGGAGCATGAAACAGCGCCGGCATGCTGCTGGGGTCGAGCCTTAAAGCCTCAAAGCCTCTTACTTCTCTCTCAGGAGCCACACACTGGGCTAGCCTGCAGCCTCCAGGAGAAGCTGGAATTACACCTAGCCACATTCCACAAGCTGTCACTGGAACGTTCTAGATCAGCATTGTCCAAATGAACTTCTGCGATGGTGGGTTGTCCTCTACACTGTTCAATTCAGTGGCCACTAGCCCACTAGTACAGGTGGCTATTTTGTACCTAAAATGAGGCCAATGTGATTGAGGAGCTGAATGGTTAATGTTAATGTAAACAGCCGCATGTGGCTGGTGGCTACCATATTGCACAGTGCTGCTCTAGACTACCCAGAGGCTGGGAGAGCCCAGGCTCCAGCGAGTATGGGTGTGTTTACCATGAGCCCTGATTAGAACTCAAACAGACGCCTGCTCACACTTACAGTCAGAACACCAGCTCACAGTGTGACCCACCCCAAGACTCAGGAGCACAGGTGGGCTCAAGCTCCCAGAAGGGCCACTCCAAGCACGCCTCTGGCAGCAGAAGCCCTCTGCACGCGGCTCAGACTTGGCTCAGGGTTAAACGGGGACTCACATGATAAGGAATGAAAACTGAGCTAAGTCTTGTTTTCTTCTCAGGTGCCTGTCATGGTACCAGGGAGTGAGGATAGGCCCTTCTTGCTCAGGGAAAACTGATTTTGTCCTCTCAAAGATCCTGGTGTGTAACAAACACCATACAGAATACCCAACCCCAGGAGTCTGGCACCCCACCTGATTGAGTGACAGGTCCTTCAACCCCGGAGGTCCACACCCACAATGCCACCTCTTAGAGTGAGACCACTGGTTCTTTCCGAGGTAGGCCTCTAACCCTGCTTCCTCCCTTTCTATCCAGGAAGCCTGGGGCTTCCCAAACAGGCCCCTTGCAAAGCAGAAGTCACCAGTCCCCAGCTCCACAATGCAGATGAGACAGGATGAAGCAGCAGTCCAAGGTAGAAGCCATTAGTGAGCTGGCCAAACCAAGGTTGCTGGCTATACCTCGAGAAATTGCGAGATGTCCCTCTTGTCACTAACGCCCATGGCCACCACATTCTCAAAGAGCCAGAAGAAGGGGCGATCATCTCCCTCCTTGGGCCGCGCATCATGCAGGAGGCGGTAGAACTCAAAGAAGAGCCGGCCAGTGCCCTCTGAGAGGTCGGAAGAGAAAGCCATCAGCTGGGGCTGTCTGCATAGGACAGTGGTGTGGCTCGGGCACGGGGAGGGCACGGGAAGACAGGGTCATCGGGAATAGCTGTCCCAGGGCAGAAATATCCAAGGAGGAAGCCTATGTGCGGAAGCACCAGCTGAGAAGGTGGAGGGGACAGGATGGTACCTACCGTAGAGGCCCTTGCGAGCAGGGTTGACGATGGAGAGGTCATTGCAGGGACTGCCCCCAATCACCAGATCGAATGGGCCCCACTCCTGGATCTGGGAGGATAAAGGCAACGTGATGGGCCTGCTGTCCAGGGACAGAGGCAGACAGGAAGAAAGAGAAATTATCTGTGAACTTGGCAAAGAAGTCCTTTGACACGAAAGAGAGGAGACCCAGCTGCTCTGCAGGCTCACGACCCTAGCTGCAACCATGGACAAGTCCTAAACAAGAACGGGACCAAGTTGGATCATTTCTTAGGCCAATGGGGAAACTAGTATCACCCAGGCAGGCAACACAGCCACCCACTGGGAAGGTGACCCAAGTGGACGGCTGAGTCTGAAGGTACCTGGCATGCTGAGTGTCTTAGGCAGGGTGTCTGGGCCATGTGAATGTCCTCCAGTTGCCCTTCAGGACTCCAGAGGGCCTGTAGTCATGCTTAAGGGAAGACCCTGCCTGAGCCTCCCAGATATGGAAGCTGATAAAGCTATTTGCCAAAAGTATTGGGAGGACAGGAACCTCTCTCTAATCCAAAGAGCTCTACTAGAAACTGTCCAGAAACCAGCCCAGGGAGTAGCCAGAGCTCAAGTAGGCACTATGTTGCCCAAGCTAGTCTTAAACCCCTGGCCTCAAGGGATTCTCCTACCTTGGCCTCCCAAAGTGCTGGCATTATAGGCATGAGCCACCATGCCTAGCCCAAATTCCCATTTCAATTTGCCCTTTACCCTCTCAAGACAGAGGACAAATGGAAGATAAGGAGAAAAAGAGGCTGGGGCAAAGGGTGAAGAGAAAGAGGGCAAATGAACAAAATGAAAGGAGGCAAGGGCTGCCTCCAGGTGCTGAGTGTGCAGGGAGGGGAAGACGGGCTGCGCCCCACAGCATGGACATACATGCTTCTGTGTGACGCTGCGGACGTCCCCGACGTACATGATCTTCCCCTGGTGCCGCACCATGCCCACCGTGATGGAGTCCTCACACACCTCCGAGGCAATGTAGCGGTCCACCTGAATGCCCAAGTCCTTCAGCACCAGGAGCCCTGCACCAGCCAGCAGACAGCACCGTTACTTGGAGCCATCTCCCTGGCACCCTGGTCTCGGCAGGTGAGCCTGCTGGCCAACAGGACCCATGGGGTCAGCTGTAGGCCCAAGTCCTATCTTTTCCCTGAAGATGCCTTAAATCCTTTCTGGATCCAACTGGAGTATCCATAGTAAGGACATCGAGGCTCTGTCTCATGCCTCGTTTGGCCTATCTGGAAGGCAGTCAAAGCTGCAGAAAACTGACCGGAGAGTACATGGTTCCAGGATCCAGGAAGAATCACAGCTGACTTTTTGGGGGCCTTTTCTTTGTTGTTGTCCGTCTACAACTTGGTCCTTCCATACCCTCTTATCACCTCCTGCTACAATTCTACCCCACCCTTTGACTCAACCTGAATGTTCCCTGCTCCACAAAGGTTTCATAAATGCCCTGCCCCACCCAGTAGCCCCTGGAATCACCGCCCCCTCCGCTATGAGTCCCCAGCTCTGTGCATCCCTTGCCTCCCCATCAGAGCAGTTTCCATTCCTCACTCAGCCCTCTCGTGGATTGCAAAGGCTCTTCCAGACAGAGGAGGCCTCCTTCATTGTGCTTCCCCCGAGCTAACCACACAGATTTCCTTACCACGATCCCTCCCCCTCCAGAAATGCTAGCCG
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Task1_train_3157
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Mutation context: Chromosome 2, Gene DNMT3A (DNA methyltransferase 3 alpha). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Acute myeloid leukemia
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CAACAAGCCCTCGATAGCAACTCTACCAAACATGTATGAGATGGGGAAGGTCCTACAACCTCATGGGAATAGCAAGGAGGGAGATTATTTGACCGAGGCCAGGTGAAATGATGTCTCCTAGTTATACCAAGTATACCAAGCAGCCCACCATGGAGGTTTAACACCCATGACTCAGAACACTCTGGAAAACGCTTCCCTCCACAATGGACAGGGACTGAGCGGCTCTCAGCATGCTTTTGAATTGCCAACTCTGGACAATTTATTTCGCCTAAAAAGCCTTTTTATAATGCCAGTTTTATAACTGATGAAATGAATTTTCTTCATTCCTAGATATTAAAATCTTTATCTGTGTAACCTAACTGAAGAAAATCTCTCCAAAAAAGGACCTGAAGCCAACAAAGTGTGTGATTAGTAAAATTAAGTTAAGCAGAACCCTGAACTTGCATGCAGCCGCTGCAAGATTCCCTCTCCTGGAACAGGCTGTGGCCACAACTCCCCTTCCCAGCCCCAAAGCCATGCCCCATGGCTTTGCCTCAGGAGAATCTAAGAACCAGAGGGCTCGGGACACATCACCAATGTCAGAAAACCAACTACCTAACTCAGCAGCACAGGACTCTTCTTTGGTATAAAGAGAGTACTTTTAAAGGTCCTGCTTTAAGACCACTAGTTGTTGGTTTCAGACGAGTATTTTCTATACCCTGACTCCTCTTCCTCCTCAAGGAAAAGGAAATAAGGAACATGGCAGAGCAGCTAGTCATTCAGCAGAGGCCGGCCAGAGAGGGCCCGGCTCAGGGGCTTCCCCACTATGGGTCATCCCACCTGCAGTCCCAGCCCACAGCCCCCCAGGCCCAGGAGCTTTCACCAACCTGTTCATACCGGGAAGGTTACCCCAGAAGTAGCGGGCCCTGTGTGCAGCTGACACTTCTTTGGCATCAATCATCACAGGGTTGGACTACAAAACAGGAGACGGTTTGAAGATGAGCCAAGGAGGAGCATGAAACAGCGCCGGCATGCTGCTGGGGTCGAGCCTTAAAGCCTCAAAGCCTCTTACTTCTCTCTCAGGAGCCACACACTGGGCTAGCCTGCAGCCTCCAGGAGAAGCTGGAATTACACCTAGCCACATTCCACAAGCTGTCACTGGAACGTTCTAGATCAGCATTGTCCAAATGAACTTCTGCGATGGTGGGTTGTCCTCTACACTGTTCAATTCAGTGGCCACTAGCCCACTAGTACAGGTGGCTATTTTGTACCTAAAATGAGGCCAATGTGATTGAGGAGCTGAATGGTTAATGTTAATGTAAACAGCCGCATGTGGCTGGTGGCTACCATATTGCACAGTGCTGCTCTAGACTACCCAGAGGCTGGGAGAGCCCAGGCTCCAGCGAGTATGGGTGTGTTTACCATGAGCCCTGATTAGAACTCAAACAGACGCCTGCTCACACTTACAGTCAGAACACCAGCTCACAGTGTGACCCACCCCAAGACTCAGGAGCACAGGTGGGCTCAAGCTCCCAGAAGGGCCACTCCAAGCACGCCTCTGGCAGCAGAAGCCCTCTGCACGCGGCTCAGACTTGGCTCAGGGTTAAACGGGGACTCACATGATAAGGAATGAAAACTGAGCTAAGTCTTGTTTTCTTCTCAGGTGCCTGTCATGGTACCAGGGAGTGAGGATAGGCCCTTCTTGCTCAGGGAAAACTGATTTTGTCCTCTCAAAGATCCTGGTGTGTAACAAACACCATACAGAATACCCAACCCCAGGAGTCTGGCACCCCACCTGATTGAGTGACAGGTCCTTCAACCCCGGAGGTCCACACCCACAATGCCACCTCTTAGAGTGAGACCACTGGTTCTTTCCGAGGTAGGCCTCTAACCCTGCTTCCTCCCTTTCTATCCAGGAAGCCTGGGGCTTCCCAAACAGGCCCCTTGCAAAGCAGAAGTCACCAGTCCCCAGCTCCACAATGCAGATGAGACAGGATGAAGCAGCAGTCCAAGGTAGAAGCCATTAGTGAGCTGGCCAAACCAAGGTTGCTGGCTATACCTCGAGAAATCGCGAGATGTCCCTCTTGTCACTAACGCCCATGGCCACCACATTCTCAAAGAGCCAGAAGAAGGGGCGATCATCTCCCTCCTTGGGCCGCGCATCATGCAGGAGGCGGTAGAACTCAAAGAAGAGCCGGCCAGTGCCCTCTGAGAGGTCGGAAGAGAAAGCCATCAGCTGGGGCTGTCTGCATAGGACAGTGGTGTGGCTCGGGCACGGGGAGGGCACGGGAAGACAGGGTCATCGGGAATAGCTGTCCCAGGGCAGAAATATCCAAGGAGGAAGCCTATGTGCGGAAGCACCAGCTGAGAAGGTGGAGGGGACAGGATGGTACCTACCGTAGAGGCCCTTGCGAGCAGGGTTGACGATGGAGAGGTCATTGCAGGGACTGCCCCCAATCACCAGATCGAATGGGCCCCACTCCTGGATCTGGGAGGATAAAGGCAACGTGATGGGCCTGCTGTCCAGGGACAGAGGCAGACAGGAAGAAAGAGAAATTATCTGTGAACTTGGCAAAGAAGTCCTTTGACACGAAAGAGAGGAGACCCAGCTGCTCTGCAGGCTCACGACCCTAGCTGCAACCATGGACAAGTCCTAAACAAGAACGGGACCAAGTTGGATCATTTCTTAGGCCAATGGGGAAACTAGTATCACCCAGGCAGGCAACACAGCCACCCACTGGGAAGGTGACCCAAGTGGACGGCTGAGTCTGAAGGTACCTGGCATGCTGAGTGTCTTAGGCAGGGTGTCTGGGCCATGTGAATGTCCTCCAGTTGCCCTTCAGGACTCCAGAGGGCCTGTAGTCATGCTTAAGGGAAGACCCTGCCTGAGCCTCCCAGATATGGAAGCTGATAAAGCTATTTGCCAAAAGTATTGGGAGGACAGGAACCTCTCTCTAATCCAAAGAGCTCTACTAGAAACTGTCCAGAAACCAGCCCAGGGAGTAGCCAGAGCTCAAGTAGGCACTATGTTGCCCAAGCTAGTCTTAAACCCCTGGCCTCAAGGGATTCTCCTACCTTGGCCTCCCAAAGTGCTGGCATTATAGGCATGAGCCACCATGCCTAGCCCAAATTCCCATTTCAATTTGCCCTTTACCCTCTCAAGACAGAGGACAAATGGAAGATAAGGAGAAAAAGAGGCTGGGGCAAAGGGTGAAGAGAAAGAGGGCAAATGAACAAAATGAAAGGAGGCAAGGGCTGCCTCCAGGTGCTGAGTGTGCAGGGAGGGGAAGACGGGCTGCGCCCCACAGCATGGACATACATGCTTCTGTGTGACGCTGCGGACGTCCCCGACGTACATGATCTTCCCCTGGTGCCGCACCATGCCCACCGTGATGGAGTCCTCACACACCTCCGAGGCAATGTAGCGGTCCACCTGAATGCCCAAGTCCTTCAGCACCAGGAGCCCTGCACCAGCCAGCAGACAGCACCGTTACTTGGAGCCATCTCCCTGGCACCCTGGTCTCGGCAGGTGAGCCTGCTGGCCAACAGGACCCATGGGGTCAGCTGTAGGCCCAAGTCCTATCTTTTCCCTGAAGATGCCTTAAATCCTTTCTGGATCCAACTGGAGTATCCATAGTAAGGACATCGAGGCTCTGTCTCATGCCTCGTTTGGCCTATCTGGAAGGCAGTCAAAGCTGCAGAAAACTGACCGGAGAGTACATGGTTCCAGGATCCAGGAAGAATCACAGCTGACTTTTTGGGGGCCTTTTCTTTGTTGTTGTCCGTCTACAACTTGGTCCTTCCATACCCTCTTATCACCTCCTGCTACAATTCTACCCCACCCTTTGACTCAACCTGAATGTTCCCTGCTCCACAAAGGTTTCATAAATGCCCTGCCCCACCCAGTAGCCCCTGGAATCACCGCCCCCTCCGCTATGAGTCCCCAGCTCTGTGCATCCCTTGCCTCCCCATCAGAGCAGTTTCCATTCCTCACTCAGCCCTCTCGTGGATTGCAAAGGCTCTTCCAGACAGAGGAGGCCTCCTTCATTGTGCTTCCCCCGAGCTAACCACACAGATTTCCTTACCACGATCCCTCCCCCTCCAGAAATGCTAGCCG
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CAACAAGCCCTCGATAGCAACTCTACCAAACATGTATGAGATGGGGAAGGTCCTACAACCTCATGGGAATAGCAAGGAGGGAGATTATTTGACCGAGGCCAGGTGAAATGATGTCTCCTAGTTATACCAAGTATACCAAGCAGCCCACCATGGAGGTTTAACACCCATGACTCAGAACACTCTGGAAAACGCTTCCCTCCACAATGGACAGGGACTGAGCGGCTCTCAGCATGCTTTTGAATTGCCAACTCTGGACAATTTATTTCGCCTAAAAAGCCTTTTTATAATGCCAGTTTTATAACTGATGAAATGAATTTTCTTCATTCCTAGATATTAAAATCTTTATCTGTGTAACCTAACTGAAGAAAATCTCTCCAAAAAAGGACCTGAAGCCAACAAAGTGTGTGATTAGTAAAATTAAGTTAAGCAGAACCCTGAACTTGCATGCAGCCGCTGCAAGATTCCCTCTCCTGGAACAGGCTGTGGCCACAACTCCCCTTCCCAGCCCCAAAGCCATGCCCCATGGCTTTGCCTCAGGAGAATCTAAGAACCAGAGGGCTCGGGACACATCACCAATGTCAGAAAACCAACTACCTAACTCAGCAGCACAGGACTCTTCTTTGGTATAAAGAGAGTACTTTTAAAGGTCCTGCTTTAAGACCACTAGTTGTTGGTTTCAGACGAGTATTTTCTATACCCTGACTCCTCTTCCTCCTCAAGGAAAAGGAAATAAGGAACATGGCAGAGCAGCTAGTCATTCAGCAGAGGCCGGCCAGAGAGGGCCCGGCTCAGGGGCTTCCCCACTATGGGTCATCCCACCTGCAGTCCCAGCCCACAGCCCCCCAGGCCCAGGAGCTTTCACCAACCTGTTCATACCGGGAAGGTTACCCCAGAAGTAGCGGGCCCTGTGTGCAGCTGACACTTCTTTGGCATCAATCATCACAGGGTTGGACTACAAAACAGGAGACGGTTTGAAGATGAGCCAAGGAGGAGCATGAAACAGCGCCGGCATGCTGCTGGGGTCGAGCCTTAAAGCCTCAAAGCCTCTTACTTCTCTCTCAGGAGCCACACACTGGGCTAGCCTGCAGCCTCCAGGAGAAGCTGGAATTACACCTAGCCACATTCCACAAGCTGTCACTGGAACGTTCTAGATCAGCATTGTCCAAATGAACTTCTGCGATGGTGGGTTGTCCTCTACACTGTTCAATTCAGTGGCCACTAGCCCACTAGTACAGGTGGCTATTTTGTACCTAAAATGAGGCCAATGTGATTGAGGAGCTGAATGGTTAATGTTAATGTAAACAGCCGCATGTGGCTGGTGGCTACCATATTGCACAGTGCTGCTCTAGACTACCCAGAGGCTGGGAGAGCCCAGGCTCCAGCGAGTATGGGTGTGTTTACCATGAGCCCTGATTAGAACTCAAACAGACGCCTGCTCACACTTACAGTCAGAACACCAGCTCACAGTGTGACCCACCCCAAGACTCAGGAGCACAGGTGGGCTCAAGCTCCCAGAAGGGCCACTCCAAGCACGCCTCTGGCAGCAGAAGCCCTCTGCACGCGGCTCAGACTTGGCTCAGGGTTAAACGGGGACTCACATGATAAGGAATGAAAACTGAGCTAAGTCTTGTTTTCTTCTCAGGTGCCTGTCATGGTACCAGGGAGTGAGGATAGGCCCTTCTTGCTCAGGGAAAACTGATTTTGTCCTCTCAAAGATCCTGGTGTGTAACAAACACCATACAGAATACCCAACCCCAGGAGTCTGGCACCCCACCTGATTGAGTGACAGGTCCTTCAACCCCGGAGGTCCACACCCACAATGCCACCTCTTAGAGTGAGACCACTGGTTCTTTCCGAGGTAGGCCTCTAACCCTGCTTCCTCCCTTTCTATCCAGGAAGCCTGGGGCTTCCCAAACAGGCCCCTTGCAAAGCAGAAGTCACCAGTCCCCAGCTCCACAATGCAGATGAGACAGGATGAAGCAGCAGTCCAAGGTAGAAGCCATTAGTGAGCTGGCCAAACCAAGGTTGCTGGCTATACCTCGAGAAATTGCGAGATGTCCCTCTTGTCACTAACGCCCATGGCCACCACATTCTCAAAGAGCCAGAAGAAGGGGCGATCATCTCCCTCCTTGGGCCGCGCATCATGCAGGAGGCGGTAGAACTCAAAGAAGAGCCGGCCAGTGCCCTCTGAGAGGTCGGAAGAGAAAGCCATCAGCTGGGGCTGTCTGCATAGGACAGTGGTGTGGCTCGGGCACGGGGAGGGCACGGGAAGACAGGGTCATCGGGAATAGCTGTCCCAGGGCAGAAATATCCAAGGAGGAAGCCTATGTGCGGAAGCACCAGCTGAGAAGGTGGAGGGGACAGGATGGTACCTACCGTAGAGGCCCTTGCGAGCAGGGTTGACGATGGAGAGGTCATTGCAGGGACTGCCCCCAATCACCAGATCGAATGGGCCCCACTCCTGGATCTGGGAGGATAAAGGCAACGTGATGGGCCTGCTGTCCAGGGACAGAGGCAGACAGGAAGAAAGAGAAATTATCTGTGAACTTGGCAAAGAAGTCCTTTGACACGAAAGAGAGGAGACCCAGCTGCTCTGCAGGCTCACGACCCTAGCTGCAACCATGGACAAGTCCTAAACAAGAACGGGACCAAGTTGGATCATTTCTTAGGCCAATGGGGAAACTAGTATCACCCAGGCAGGCAACACAGCCACCCACTGGGAAGGTGACCCAAGTGGACGGCTGAGTCTGAAGGTACCTGGCATGCTGAGTGTCTTAGGCAGGGTGTCTGGGCCATGTGAATGTCCTCCAGTTGCCCTTCAGGACTCCAGAGGGCCTGTAGTCATGCTTAAGGGAAGACCCTGCCTGAGCCTCCCAGATATGGAAGCTGATAAAGCTATTTGCCAAAAGTATTGGGAGGACAGGAACCTCTCTCTAATCCAAAGAGCTCTACTAGAAACTGTCCAGAAACCAGCCCAGGGAGTAGCCAGAGCTCAAGTAGGCACTATGTTGCCCAAGCTAGTCTTAAACCCCTGGCCTCAAGGGATTCTCCTACCTTGGCCTCCCAAAGTGCTGGCATTATAGGCATGAGCCACCATGCCTAGCCCAAATTCCCATTTCAATTTGCCCTTTACCCTCTCAAGACAGAGGACAAATGGAAGATAAGGAGAAAAAGAGGCTGGGGCAAAGGGTGAAGAGAAAGAGGGCAAATGAACAAAATGAAAGGAGGCAAGGGCTGCCTCCAGGTGCTGAGTGTGCAGGGAGGGGAAGACGGGCTGCGCCCCACAGCATGGACATACATGCTTCTGTGTGACGCTGCGGACGTCCCCGACGTACATGATCTTCCCCTGGTGCCGCACCATGCCCACCGTGATGGAGTCCTCACACACCTCCGAGGCAATGTAGCGGTCCACCTGAATGCCCAAGTCCTTCAGCACCAGGAGCCCTGCACCAGCCAGCAGACAGCACCGTTACTTGGAGCCATCTCCCTGGCACCCTGGTCTCGGCAGGTGAGCCTGCTGGCCAACAGGACCCATGGGGTCAGCTGTAGGCCCAAGTCCTATCTTTTCCCTGAAGATGCCTTAAATCCTTTCTGGATCCAACTGGAGTATCCATAGTAAGGACATCGAGGCTCTGTCTCATGCCTCGTTTGGCCTATCTGGAAGGCAGTCAAAGCTGCAGAAAACTGACCGGAGAGTACATGGTTCCAGGATCCAGGAAGAATCACAGCTGACTTTTTGGGGGCCTTTTCTTTGTTGTTGTCCGTCTACAACTTGGTCCTTCCATACCCTCTTATCACCTCCTGCTACAATTCTACCCCACCCTTTGACTCAACCTGAATGTTCCCTGCTCCACAAAGGTTTCATAAATGCCCTGCCCCACCCAGTAGCCCCTGGAATCACCGCCCCCTCCGCTATGAGTCCCCAGCTCTGTGCATCCCTTGCCTCCCCATCAGAGCAGTTTCCATTCCTCACTCAGCCCTCTCGTGGATTGCAAAGGCTCTTCCAGACAGAGGAGGCCTCCTTCATTGTGCTTCCCCCGAGCTAACCACACAGATTTCCTTACCACGATCCCTCCCCCTCCAGAAATGCTAGCCG
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Task1_train_3158
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The following genetic variant occurs in DNMT3A (DNA methyltransferase 3 alpha) on Chromosome 2. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Tatton-Brown-Rahman overgrowth syndrome
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CAACAAGCCCTCGATAGCAACTCTACCAAACATGTATGAGATGGGGAAGGTCCTACAACCTCATGGGAATAGCAAGGAGGGAGATTATTTGACCGAGGCCAGGTGAAATGATGTCTCCTAGTTATACCAAGTATACCAAGCAGCCCACCATGGAGGTTTAACACCCATGACTCAGAACACTCTGGAAAACGCTTCCCTCCACAATGGACAGGGACTGAGCGGCTCTCAGCATGCTTTTGAATTGCCAACTCTGGACAATTTATTTCGCCTAAAAAGCCTTTTTATAATGCCAGTTTTATAACTGATGAAATGAATTTTCTTCATTCCTAGATATTAAAATCTTTATCTGTGTAACCTAACTGAAGAAAATCTCTCCAAAAAAGGACCTGAAGCCAACAAAGTGTGTGATTAGTAAAATTAAGTTAAGCAGAACCCTGAACTTGCATGCAGCCGCTGCAAGATTCCCTCTCCTGGAACAGGCTGTGGCCACAACTCCCCTTCCCAGCCCCAAAGCCATGCCCCATGGCTTTGCCTCAGGAGAATCTAAGAACCAGAGGGCTCGGGACACATCACCAATGTCAGAAAACCAACTACCTAACTCAGCAGCACAGGACTCTTCTTTGGTATAAAGAGAGTACTTTTAAAGGTCCTGCTTTAAGACCACTAGTTGTTGGTTTCAGACGAGTATTTTCTATACCCTGACTCCTCTTCCTCCTCAAGGAAAAGGAAATAAGGAACATGGCAGAGCAGCTAGTCATTCAGCAGAGGCCGGCCAGAGAGGGCCCGGCTCAGGGGCTTCCCCACTATGGGTCATCCCACCTGCAGTCCCAGCCCACAGCCCCCCAGGCCCAGGAGCTTTCACCAACCTGTTCATACCGGGAAGGTTACCCCAGAAGTAGCGGGCCCTGTGTGCAGCTGACACTTCTTTGGCATCAATCATCACAGGGTTGGACTACAAAACAGGAGACGGTTTGAAGATGAGCCAAGGAGGAGCATGAAACAGCGCCGGCATGCTGCTGGGGTCGAGCCTTAAAGCCTCAAAGCCTCTTACTTCTCTCTCAGGAGCCACACACTGGGCTAGCCTGCAGCCTCCAGGAGAAGCTGGAATTACACCTAGCCACATTCCACAAGCTGTCACTGGAACGTTCTAGATCAGCATTGTCCAAATGAACTTCTGCGATGGTGGGTTGTCCTCTACACTGTTCAATTCAGTGGCCACTAGCCCACTAGTACAGGTGGCTATTTTGTACCTAAAATGAGGCCAATGTGATTGAGGAGCTGAATGGTTAATGTTAATGTAAACAGCCGCATGTGGCTGGTGGCTACCATATTGCACAGTGCTGCTCTAGACTACCCAGAGGCTGGGAGAGCCCAGGCTCCAGCGAGTATGGGTGTGTTTACCATGAGCCCTGATTAGAACTCAAACAGACGCCTGCTCACACTTACAGTCAGAACACCAGCTCACAGTGTGACCCACCCCAAGACTCAGGAGCACAGGTGGGCTCAAGCTCCCAGAAGGGCCACTCCAAGCACGCCTCTGGCAGCAGAAGCCCTCTGCACGCGGCTCAGACTTGGCTCAGGGTTAAACGGGGACTCACATGATAAGGAATGAAAACTGAGCTAAGTCTTGTTTTCTTCTCAGGTGCCTGTCATGGTACCAGGGAGTGAGGATAGGCCCTTCTTGCTCAGGGAAAACTGATTTTGTCCTCTCAAAGATCCTGGTGTGTAACAAACACCATACAGAATACCCAACCCCAGGAGTCTGGCACCCCACCTGATTGAGTGACAGGTCCTTCAACCCCGGAGGTCCACACCCACAATGCCACCTCTTAGAGTGAGACCACTGGTTCTTTCCGAGGTAGGCCTCTAACCCTGCTTCCTCCCTTTCTATCCAGGAAGCCTGGGGCTTCCCAAACAGGCCCCTTGCAAAGCAGAAGTCACCAGTCCCCAGCTCCACAATGCAGATGAGACAGGATGAAGCAGCAGTCCAAGGTAGAAGCCATTAGTGAGCTGGCCAAACCAAGGTTGCTGGCTATACCTCGAGAAATCGCGAGATGTCCCTCTTGTCACTAACGCCCATGGCCACCACATTCTCAAAGAGCCAGAAGAAGGGGCGATCATCTCCCTCCTTGGGCCGCGCATCATGCAGGAGGCGGTAGAACTCAAAGAAGAGCCGGCCAGTGCCCTCTGAGAGGTCGGAAGAGAAAGCCATCAGCTGGGGCTGTCTGCATAGGACAGTGGTGTGGCTCGGGCACGGGGAGGGCACGGGAAGACAGGGTCATCGGGAATAGCTGTCCCAGGGCAGAAATATCCAAGGAGGAAGCCTATGTGCGGAAGCACCAGCTGAGAAGGTGGAGGGGACAGGATGGTACCTACCGTAGAGGCCCTTGCGAGCAGGGTTGACGATGGAGAGGTCATTGCAGGGACTGCCCCCAATCACCAGATCGAATGGGCCCCACTCCTGGATCTGGGAGGATAAAGGCAACGTGATGGGCCTGCTGTCCAGGGACAGAGGCAGACAGGAAGAAAGAGAAATTATCTGTGAACTTGGCAAAGAAGTCCTTTGACACGAAAGAGAGGAGACCCAGCTGCTCTGCAGGCTCACGACCCTAGCTGCAACCATGGACAAGTCCTAAACAAGAACGGGACCAAGTTGGATCATTTCTTAGGCCAATGGGGAAACTAGTATCACCCAGGCAGGCAACACAGCCACCCACTGGGAAGGTGACCCAAGTGGACGGCTGAGTCTGAAGGTACCTGGCATGCTGAGTGTCTTAGGCAGGGTGTCTGGGCCATGTGAATGTCCTCCAGTTGCCCTTCAGGACTCCAGAGGGCCTGTAGTCATGCTTAAGGGAAGACCCTGCCTGAGCCTCCCAGATATGGAAGCTGATAAAGCTATTTGCCAAAAGTATTGGGAGGACAGGAACCTCTCTCTAATCCAAAGAGCTCTACTAGAAACTGTCCAGAAACCAGCCCAGGGAGTAGCCAGAGCTCAAGTAGGCACTATGTTGCCCAAGCTAGTCTTAAACCCCTGGCCTCAAGGGATTCTCCTACCTTGGCCTCCCAAAGTGCTGGCATTATAGGCATGAGCCACCATGCCTAGCCCAAATTCCCATTTCAATTTGCCCTTTACCCTCTCAAGACAGAGGACAAATGGAAGATAAGGAGAAAAAGAGGCTGGGGCAAAGGGTGAAGAGAAAGAGGGCAAATGAACAAAATGAAAGGAGGCAAGGGCTGCCTCCAGGTGCTGAGTGTGCAGGGAGGGGAAGACGGGCTGCGCCCCACAGCATGGACATACATGCTTCTGTGTGACGCTGCGGACGTCCCCGACGTACATGATCTTCCCCTGGTGCCGCACCATGCCCACCGTGATGGAGTCCTCACACACCTCCGAGGCAATGTAGCGGTCCACCTGAATGCCCAAGTCCTTCAGCACCAGGAGCCCTGCACCAGCCAGCAGACAGCACCGTTACTTGGAGCCATCTCCCTGGCACCCTGGTCTCGGCAGGTGAGCCTGCTGGCCAACAGGACCCATGGGGTCAGCTGTAGGCCCAAGTCCTATCTTTTCCCTGAAGATGCCTTAAATCCTTTCTGGATCCAACTGGAGTATCCATAGTAAGGACATCGAGGCTCTGTCTCATGCCTCGTTTGGCCTATCTGGAAGGCAGTCAAAGCTGCAGAAAACTGACCGGAGAGTACATGGTTCCAGGATCCAGGAAGAATCACAGCTGACTTTTTGGGGGCCTTTTCTTTGTTGTTGTCCGTCTACAACTTGGTCCTTCCATACCCTCTTATCACCTCCTGCTACAATTCTACCCCACCCTTTGACTCAACCTGAATGTTCCCTGCTCCACAAAGGTTTCATAAATGCCCTGCCCCACCCAGTAGCCCCTGGAATCACCGCCCCCTCCGCTATGAGTCCCCAGCTCTGTGCATCCCTTGCCTCCCCATCAGAGCAGTTTCCATTCCTCACTCAGCCCTCTCGTGGATTGCAAAGGCTCTTCCAGACAGAGGAGGCCTCCTTCATTGTGCTTCCCCCGAGCTAACCACACAGATTTCCTTACCACGATCCCTCCCCCTCCAGAAATGCTAGCCG
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CAACAAGCCCTCGATAGCAACTCTACCAAACATGTATGAGATGGGGAAGGTCCTACAACCTCATGGGAATAGCAAGGAGGGAGATTATTTGACCGAGGCCAGGTGAAATGATGTCTCCTAGTTATACCAAGTATACCAAGCAGCCCACCATGGAGGTTTAACACCCATGACTCAGAACACTCTGGAAAACGCTTCCCTCCACAATGGACAGGGACTGAGCGGCTCTCAGCATGCTTTTGAATTGCCAACTCTGGACAATTTATTTCGCCTAAAAAGCCTTTTTATAATGCCAGTTTTATAACTGATGAAATGAATTTTCTTCATTCCTAGATATTAAAATCTTTATCTGTGTAACCTAACTGAAGAAAATCTCTCCAAAAAAGGACCTGAAGCCAACAAAGTGTGTGATTAGTAAAATTAAGTTAAGCAGAACCCTGAACTTGCATGCAGCCGCTGCAAGATTCCCTCTCCTGGAACAGGCTGTGGCCACAACTCCCCTTCCCAGCCCCAAAGCCATGCCCCATGGCTTTGCCTCAGGAGAATCTAAGAACCAGAGGGCTCGGGACACATCACCAATGTCAGAAAACCAACTACCTAACTCAGCAGCACAGGACTCTTCTTTGGTATAAAGAGAGTACTTTTAAAGGTCCTGCTTTAAGACCACTAGTTGTTGGTTTCAGACGAGTATTTTCTATACCCTGACTCCTCTTCCTCCTCAAGGAAAAGGAAATAAGGAACATGGCAGAGCAGCTAGTCATTCAGCAGAGGCCGGCCAGAGAGGGCCCGGCTCAGGGGCTTCCCCACTATGGGTCATCCCACCTGCAGTCCCAGCCCACAGCCCCCCAGGCCCAGGAGCTTTCACCAACCTGTTCATACCGGGAAGGTTACCCCAGAAGTAGCGGGCCCTGTGTGCAGCTGACACTTCTTTGGCATCAATCATCACAGGGTTGGACTACAAAACAGGAGACGGTTTGAAGATGAGCCAAGGAGGAGCATGAAACAGCGCCGGCATGCTGCTGGGGTCGAGCCTTAAAGCCTCAAAGCCTCTTACTTCTCTCTCAGGAGCCACACACTGGGCTAGCCTGCAGCCTCCAGGAGAAGCTGGAATTACACCTAGCCACATTCCACAAGCTGTCACTGGAACGTTCTAGATCAGCATTGTCCAAATGAACTTCTGCGATGGTGGGTTGTCCTCTACACTGTTCAATTCAGTGGCCACTAGCCCACTAGTACAGGTGGCTATTTTGTACCTAAAATGAGGCCAATGTGATTGAGGAGCTGAATGGTTAATGTTAATGTAAACAGCCGCATGTGGCTGGTGGCTACCATATTGCACAGTGCTGCTCTAGACTACCCAGAGGCTGGGAGAGCCCAGGCTCCAGCGAGTATGGGTGTGTTTACCATGAGCCCTGATTAGAACTCAAACAGACGCCTGCTCACACTTACAGTCAGAACACCAGCTCACAGTGTGACCCACCCCAAGACTCAGGAGCACAGGTGGGCTCAAGCTCCCAGAAGGGCCACTCCAAGCACGCCTCTGGCAGCAGAAGCCCTCTGCACGCGGCTCAGACTTGGCTCAGGGTTAAACGGGGACTCACATGATAAGGAATGAAAACTGAGCTAAGTCTTGTTTTCTTCTCAGGTGCCTGTCATGGTACCAGGGAGTGAGGATAGGCCCTTCTTGCTCAGGGAAAACTGATTTTGTCCTCTCAAAGATCCTGGTGTGTAACAAACACCATACAGAATACCCAACCCCAGGAGTCTGGCACCCCACCTGATTGAGTGACAGGTCCTTCAACCCCGGAGGTCCACACCCACAATGCCACCTCTTAGAGTGAGACCACTGGTTCTTTCCGAGGTAGGCCTCTAACCCTGCTTCCTCCCTTTCTATCCAGGAAGCCTGGGGCTTCCCAAACAGGCCCCTTGCAAAGCAGAAGTCACCAGTCCCCAGCTCCACAATGCAGATGAGACAGGATGAAGCAGCAGTCCAAGGTAGAAGCCATTAGTGAGCTGGCCAAACCAAGGTTGCTGGCTATACCTCGAGAAATTGCGAGATGTCCCTCTTGTCACTAACGCCCATGGCCACCACATTCTCAAAGAGCCAGAAGAAGGGGCGATCATCTCCCTCCTTGGGCCGCGCATCATGCAGGAGGCGGTAGAACTCAAAGAAGAGCCGGCCAGTGCCCTCTGAGAGGTCGGAAGAGAAAGCCATCAGCTGGGGCTGTCTGCATAGGACAGTGGTGTGGCTCGGGCACGGGGAGGGCACGGGAAGACAGGGTCATCGGGAATAGCTGTCCCAGGGCAGAAATATCCAAGGAGGAAGCCTATGTGCGGAAGCACCAGCTGAGAAGGTGGAGGGGACAGGATGGTACCTACCGTAGAGGCCCTTGCGAGCAGGGTTGACGATGGAGAGGTCATTGCAGGGACTGCCCCCAATCACCAGATCGAATGGGCCCCACTCCTGGATCTGGGAGGATAAAGGCAACGTGATGGGCCTGCTGTCCAGGGACAGAGGCAGACAGGAAGAAAGAGAAATTATCTGTGAACTTGGCAAAGAAGTCCTTTGACACGAAAGAGAGGAGACCCAGCTGCTCTGCAGGCTCACGACCCTAGCTGCAACCATGGACAAGTCCTAAACAAGAACGGGACCAAGTTGGATCATTTCTTAGGCCAATGGGGAAACTAGTATCACCCAGGCAGGCAACACAGCCACCCACTGGGAAGGTGACCCAAGTGGACGGCTGAGTCTGAAGGTACCTGGCATGCTGAGTGTCTTAGGCAGGGTGTCTGGGCCATGTGAATGTCCTCCAGTTGCCCTTCAGGACTCCAGAGGGCCTGTAGTCATGCTTAAGGGAAGACCCTGCCTGAGCCTCCCAGATATGGAAGCTGATAAAGCTATTTGCCAAAAGTATTGGGAGGACAGGAACCTCTCTCTAATCCAAAGAGCTCTACTAGAAACTGTCCAGAAACCAGCCCAGGGAGTAGCCAGAGCTCAAGTAGGCACTATGTTGCCCAAGCTAGTCTTAAACCCCTGGCCTCAAGGGATTCTCCTACCTTGGCCTCCCAAAGTGCTGGCATTATAGGCATGAGCCACCATGCCTAGCCCAAATTCCCATTTCAATTTGCCCTTTACCCTCTCAAGACAGAGGACAAATGGAAGATAAGGAGAAAAAGAGGCTGGGGCAAAGGGTGAAGAGAAAGAGGGCAAATGAACAAAATGAAAGGAGGCAAGGGCTGCCTCCAGGTGCTGAGTGTGCAGGGAGGGGAAGACGGGCTGCGCCCCACAGCATGGACATACATGCTTCTGTGTGACGCTGCGGACGTCCCCGACGTACATGATCTTCCCCTGGTGCCGCACCATGCCCACCGTGATGGAGTCCTCACACACCTCCGAGGCAATGTAGCGGTCCACCTGAATGCCCAAGTCCTTCAGCACCAGGAGCCCTGCACCAGCCAGCAGACAGCACCGTTACTTGGAGCCATCTCCCTGGCACCCTGGTCTCGGCAGGTGAGCCTGCTGGCCAACAGGACCCATGGGGTCAGCTGTAGGCCCAAGTCCTATCTTTTCCCTGAAGATGCCTTAAATCCTTTCTGGATCCAACTGGAGTATCCATAGTAAGGACATCGAGGCTCTGTCTCATGCCTCGTTTGGCCTATCTGGAAGGCAGTCAAAGCTGCAGAAAACTGACCGGAGAGTACATGGTTCCAGGATCCAGGAAGAATCACAGCTGACTTTTTGGGGGCCTTTTCTTTGTTGTTGTCCGTCTACAACTTGGTCCTTCCATACCCTCTTATCACCTCCTGCTACAATTCTACCCCACCCTTTGACTCAACCTGAATGTTCCCTGCTCCACAAAGGTTTCATAAATGCCCTGCCCCACCCAGTAGCCCCTGGAATCACCGCCCCCTCCGCTATGAGTCCCCAGCTCTGTGCATCCCTTGCCTCCCCATCAGAGCAGTTTCCATTCCTCACTCAGCCCTCTCGTGGATTGCAAAGGCTCTTCCAGACAGAGGAGGCCTCCTTCATTGTGCTTCCCCCGAGCTAACCACACAGATTTCCTTACCACGATCCCTCCCCCTCCAGAAATGCTAGCCG
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Task1_train_3159
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A sequence alteration has been identified in DNMT3A (DNA methyltransferase 3 alpha) on Chromosome 2. Is it disease-inducing or harmless?
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Pathogenic; Inborn genetic diseases
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CAACAAGCCCTCGATAGCAACTCTACCAAACATGTATGAGATGGGGAAGGTCCTACAACCTCATGGGAATAGCAAGGAGGGAGATTATTTGACCGAGGCCAGGTGAAATGATGTCTCCTAGTTATACCAAGTATACCAAGCAGCCCACCATGGAGGTTTAACACCCATGACTCAGAACACTCTGGAAAACGCTTCCCTCCACAATGGACAGGGACTGAGCGGCTCTCAGCATGCTTTTGAATTGCCAACTCTGGACAATTTATTTCGCCTAAAAAGCCTTTTTATAATGCCAGTTTTATAACTGATGAAATGAATTTTCTTCATTCCTAGATATTAAAATCTTTATCTGTGTAACCTAACTGAAGAAAATCTCTCCAAAAAAGGACCTGAAGCCAACAAAGTGTGTGATTAGTAAAATTAAGTTAAGCAGAACCCTGAACTTGCATGCAGCCGCTGCAAGATTCCCTCTCCTGGAACAGGCTGTGGCCACAACTCCCCTTCCCAGCCCCAAAGCCATGCCCCATGGCTTTGCCTCAGGAGAATCTAAGAACCAGAGGGCTCGGGACACATCACCAATGTCAGAAAACCAACTACCTAACTCAGCAGCACAGGACTCTTCTTTGGTATAAAGAGAGTACTTTTAAAGGTCCTGCTTTAAGACCACTAGTTGTTGGTTTCAGACGAGTATTTTCTATACCCTGACTCCTCTTCCTCCTCAAGGAAAAGGAAATAAGGAACATGGCAGAGCAGCTAGTCATTCAGCAGAGGCCGGCCAGAGAGGGCCCGGCTCAGGGGCTTCCCCACTATGGGTCATCCCACCTGCAGTCCCAGCCCACAGCCCCCCAGGCCCAGGAGCTTTCACCAACCTGTTCATACCGGGAAGGTTACCCCAGAAGTAGCGGGCCCTGTGTGCAGCTGACACTTCTTTGGCATCAATCATCACAGGGTTGGACTACAAAACAGGAGACGGTTTGAAGATGAGCCAAGGAGGAGCATGAAACAGCGCCGGCATGCTGCTGGGGTCGAGCCTTAAAGCCTCAAAGCCTCTTACTTCTCTCTCAGGAGCCACACACTGGGCTAGCCTGCAGCCTCCAGGAGAAGCTGGAATTACACCTAGCCACATTCCACAAGCTGTCACTGGAACGTTCTAGATCAGCATTGTCCAAATGAACTTCTGCGATGGTGGGTTGTCCTCTACACTGTTCAATTCAGTGGCCACTAGCCCACTAGTACAGGTGGCTATTTTGTACCTAAAATGAGGCCAATGTGATTGAGGAGCTGAATGGTTAATGTTAATGTAAACAGCCGCATGTGGCTGGTGGCTACCATATTGCACAGTGCTGCTCTAGACTACCCAGAGGCTGGGAGAGCCCAGGCTCCAGCGAGTATGGGTGTGTTTACCATGAGCCCTGATTAGAACTCAAACAGACGCCTGCTCACACTTACAGTCAGAACACCAGCTCACAGTGTGACCCACCCCAAGACTCAGGAGCACAGGTGGGCTCAAGCTCCCAGAAGGGCCACTCCAAGCACGCCTCTGGCAGCAGAAGCCCTCTGCACGCGGCTCAGACTTGGCTCAGGGTTAAACGGGGACTCACATGATAAGGAATGAAAACTGAGCTAAGTCTTGTTTTCTTCTCAGGTGCCTGTCATGGTACCAGGGAGTGAGGATAGGCCCTTCTTGCTCAGGGAAAACTGATTTTGTCCTCTCAAAGATCCTGGTGTGTAACAAACACCATACAGAATACCCAACCCCAGGAGTCTGGCACCCCACCTGATTGAGTGACAGGTCCTTCAACCCCGGAGGTCCACACCCACAATGCCACCTCTTAGAGTGAGACCACTGGTTCTTTCCGAGGTAGGCCTCTAACCCTGCTTCCTCCCTTTCTATCCAGGAAGCCTGGGGCTTCCCAAACAGGCCCCTTGCAAAGCAGAAGTCACCAGTCCCCAGCTCCACAATGCAGATGAGACAGGATGAAGCAGCAGTCCAAGGTAGAAGCCATTAGTGAGCTGGCCAAACCAAGGTTGCTGGCTATACCTCGAGAAATCGCGAGATGTCCCTCTTGTCACTAACGCCCATGGCCACCACATTCTCAAAGAGCCAGAAGAAGGGGCGATCATCTCCCTCCTTGGGCCGCGCATCATGCAGGAGGCGGTAGAACTCAAAGAAGAGCCGGCCAGTGCCCTCTGAGAGGTCGGAAGAGAAAGCCATCAGCTGGGGCTGTCTGCATAGGACAGTGGTGTGGCTCGGGCACGGGGAGGGCACGGGAAGACAGGGTCATCGGGAATAGCTGTCCCAGGGCAGAAATATCCAAGGAGGAAGCCTATGTGCGGAAGCACCAGCTGAGAAGGTGGAGGGGACAGGATGGTACCTACCGTAGAGGCCCTTGCGAGCAGGGTTGACGATGGAGAGGTCATTGCAGGGACTGCCCCCAATCACCAGATCGAATGGGCCCCACTCCTGGATCTGGGAGGATAAAGGCAACGTGATGGGCCTGCTGTCCAGGGACAGAGGCAGACAGGAAGAAAGAGAAATTATCTGTGAACTTGGCAAAGAAGTCCTTTGACACGAAAGAGAGGAGACCCAGCTGCTCTGCAGGCTCACGACCCTAGCTGCAACCATGGACAAGTCCTAAACAAGAACGGGACCAAGTTGGATCATTTCTTAGGCCAATGGGGAAACTAGTATCACCCAGGCAGGCAACACAGCCACCCACTGGGAAGGTGACCCAAGTGGACGGCTGAGTCTGAAGGTACCTGGCATGCTGAGTGTCTTAGGCAGGGTGTCTGGGCCATGTGAATGTCCTCCAGTTGCCCTTCAGGACTCCAGAGGGCCTGTAGTCATGCTTAAGGGAAGACCCTGCCTGAGCCTCCCAGATATGGAAGCTGATAAAGCTATTTGCCAAAAGTATTGGGAGGACAGGAACCTCTCTCTAATCCAAAGAGCTCTACTAGAAACTGTCCAGAAACCAGCCCAGGGAGTAGCCAGAGCTCAAGTAGGCACTATGTTGCCCAAGCTAGTCTTAAACCCCTGGCCTCAAGGGATTCTCCTACCTTGGCCTCCCAAAGTGCTGGCATTATAGGCATGAGCCACCATGCCTAGCCCAAATTCCCATTTCAATTTGCCCTTTACCCTCTCAAGACAGAGGACAAATGGAAGATAAGGAGAAAAAGAGGCTGGGGCAAAGGGTGAAGAGAAAGAGGGCAAATGAACAAAATGAAAGGAGGCAAGGGCTGCCTCCAGGTGCTGAGTGTGCAGGGAGGGGAAGACGGGCTGCGCCCCACAGCATGGACATACATGCTTCTGTGTGACGCTGCGGACGTCCCCGACGTACATGATCTTCCCCTGGTGCCGCACCATGCCCACCGTGATGGAGTCCTCACACACCTCCGAGGCAATGTAGCGGTCCACCTGAATGCCCAAGTCCTTCAGCACCAGGAGCCCTGCACCAGCCAGCAGACAGCACCGTTACTTGGAGCCATCTCCCTGGCACCCTGGTCTCGGCAGGTGAGCCTGCTGGCCAACAGGACCCATGGGGTCAGCTGTAGGCCCAAGTCCTATCTTTTCCCTGAAGATGCCTTAAATCCTTTCTGGATCCAACTGGAGTATCCATAGTAAGGACATCGAGGCTCTGTCTCATGCCTCGTTTGGCCTATCTGGAAGGCAGTCAAAGCTGCAGAAAACTGACCGGAGAGTACATGGTTCCAGGATCCAGGAAGAATCACAGCTGACTTTTTGGGGGCCTTTTCTTTGTTGTTGTCCGTCTACAACTTGGTCCTTCCATACCCTCTTATCACCTCCTGCTACAATTCTACCCCACCCTTTGACTCAACCTGAATGTTCCCTGCTCCACAAAGGTTTCATAAATGCCCTGCCCCACCCAGTAGCCCCTGGAATCACCGCCCCCTCCGCTATGAGTCCCCAGCTCTGTGCATCCCTTGCCTCCCCATCAGAGCAGTTTCCATTCCTCACTCAGCCCTCTCGTGGATTGCAAAGGCTCTTCCAGACAGAGGAGGCCTCCTTCATTGTGCTTCCCCCGAGCTAACCACACAGATTTCCTTACCACGATCCCTCCCCCTCCAGAAATGCTAGCCG
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CAACAAGCCCTCGATAGCAACTCTACCAAACATGTATGAGATGGGGAAGGTCCTACAACCTCATGGGAATAGCAAGGAGGGAGATTATTTGACCGAGGCCAGGTGAAATGATGTCTCCTAGTTATACCAAGTATACCAAGCAGCCCACCATGGAGGTTTAACACCCATGACTCAGAACACTCTGGAAAACGCTTCCCTCCACAATGGACAGGGACTGAGCGGCTCTCAGCATGCTTTTGAATTGCCAACTCTGGACAATTTATTTCGCCTAAAAAGCCTTTTTATAATGCCAGTTTTATAACTGATGAAATGAATTTTCTTCATTCCTAGATATTAAAATCTTTATCTGTGTAACCTAACTGAAGAAAATCTCTCCAAAAAAGGACCTGAAGCCAACAAAGTGTGTGATTAGTAAAATTAAGTTAAGCAGAACCCTGAACTTGCATGCAGCCGCTGCAAGATTCCCTCTCCTGGAACAGGCTGTGGCCACAACTCCCCTTCCCAGCCCCAAAGCCATGCCCCATGGCTTTGCCTCAGGAGAATCTAAGAACCAGAGGGCTCGGGACACATCACCAATGTCAGAAAACCAACTACCTAACTCAGCAGCACAGGACTCTTCTTTGGTATAAAGAGAGTACTTTTAAAGGTCCTGCTTTAAGACCACTAGTTGTTGGTTTCAGACGAGTATTTTCTATACCCTGACTCCTCTTCCTCCTCAAGGAAAAGGAAATAAGGAACATGGCAGAGCAGCTAGTCATTCAGCAGAGGCCGGCCAGAGAGGGCCCGGCTCAGGGGCTTCCCCACTATGGGTCATCCCACCTGCAGTCCCAGCCCACAGCCCCCCAGGCCCAGGAGCTTTCACCAACCTGTTCATACCGGGAAGGTTACCCCAGAAGTAGCGGGCCCTGTGTGCAGCTGACACTTCTTTGGCATCAATCATCACAGGGTTGGACTACAAAACAGGAGACGGTTTGAAGATGAGCCAAGGAGGAGCATGAAACAGCGCCGGCATGCTGCTGGGGTCGAGCCTTAAAGCCTCAAAGCCTCTTACTTCTCTCTCAGGAGCCACACACTGGGCTAGCCTGCAGCCTCCAGGAGAAGCTGGAATTACACCTAGCCACATTCCACAAGCTGTCACTGGAACGTTCTAGATCAGCATTGTCCAAATGAACTTCTGCGATGGTGGGTTGTCCTCTACACTGTTCAATTCAGTGGCCACTAGCCCACTAGTACAGGTGGCTATTTTGTACCTAAAATGAGGCCAATGTGATTGAGGAGCTGAATGGTTAATGTTAATGTAAACAGCCGCATGTGGCTGGTGGCTACCATATTGCACAGTGCTGCTCTAGACTACCCAGAGGCTGGGAGAGCCCAGGCTCCAGCGAGTATGGGTGTGTTTACCATGAGCCCTGATTAGAACTCAAACAGACGCCTGCTCACACTTACAGTCAGAACACCAGCTCACAGTGTGACCCACCCCAAGACTCAGGAGCACAGGTGGGCTCAAGCTCCCAGAAGGGCCACTCCAAGCACGCCTCTGGCAGCAGAAGCCCTCTGCACGCGGCTCAGACTTGGCTCAGGGTTAAACGGGGACTCACATGATAAGGAATGAAAACTGAGCTAAGTCTTGTTTTCTTCTCAGGTGCCTGTCATGGTACCAGGGAGTGAGGATAGGCCCTTCTTGCTCAGGGAAAACTGATTTTGTCCTCTCAAAGATCCTGGTGTGTAACAAACACCATACAGAATACCCAACCCCAGGAGTCTGGCACCCCACCTGATTGAGTGACAGGTCCTTCAACCCCGGAGGTCCACACCCACAATGCCACCTCTTAGAGTGAGACCACTGGTTCTTTCCGAGGTAGGCCTCTAACCCTGCTTCCTCCCTTTCTATCCAGGAAGCCTGGGGCTTCCCAAACAGGCCCCTTGCAAAGCAGAAGTCACCAGTCCCCAGCTCCACAATGCAGATGAGACAGGATGAAGCAGCAGTCCAAGGTAGAAGCCATTAGTGAGCTGGCCAAACCAAGGTTGCTGGCTATACCTCGAGAAATTGCGAGATGTCCCTCTTGTCACTAACGCCCATGGCCACCACATTCTCAAAGAGCCAGAAGAAGGGGCGATCATCTCCCTCCTTGGGCCGCGCATCATGCAGGAGGCGGTAGAACTCAAAGAAGAGCCGGCCAGTGCCCTCTGAGAGGTCGGAAGAGAAAGCCATCAGCTGGGGCTGTCTGCATAGGACAGTGGTGTGGCTCGGGCACGGGGAGGGCACGGGAAGACAGGGTCATCGGGAATAGCTGTCCCAGGGCAGAAATATCCAAGGAGGAAGCCTATGTGCGGAAGCACCAGCTGAGAAGGTGGAGGGGACAGGATGGTACCTACCGTAGAGGCCCTTGCGAGCAGGGTTGACGATGGAGAGGTCATTGCAGGGACTGCCCCCAATCACCAGATCGAATGGGCCCCACTCCTGGATCTGGGAGGATAAAGGCAACGTGATGGGCCTGCTGTCCAGGGACAGAGGCAGACAGGAAGAAAGAGAAATTATCTGTGAACTTGGCAAAGAAGTCCTTTGACACGAAAGAGAGGAGACCCAGCTGCTCTGCAGGCTCACGACCCTAGCTGCAACCATGGACAAGTCCTAAACAAGAACGGGACCAAGTTGGATCATTTCTTAGGCCAATGGGGAAACTAGTATCACCCAGGCAGGCAACACAGCCACCCACTGGGAAGGTGACCCAAGTGGACGGCTGAGTCTGAAGGTACCTGGCATGCTGAGTGTCTTAGGCAGGGTGTCTGGGCCATGTGAATGTCCTCCAGTTGCCCTTCAGGACTCCAGAGGGCCTGTAGTCATGCTTAAGGGAAGACCCTGCCTGAGCCTCCCAGATATGGAAGCTGATAAAGCTATTTGCCAAAAGTATTGGGAGGACAGGAACCTCTCTCTAATCCAAAGAGCTCTACTAGAAACTGTCCAGAAACCAGCCCAGGGAGTAGCCAGAGCTCAAGTAGGCACTATGTTGCCCAAGCTAGTCTTAAACCCCTGGCCTCAAGGGATTCTCCTACCTTGGCCTCCCAAAGTGCTGGCATTATAGGCATGAGCCACCATGCCTAGCCCAAATTCCCATTTCAATTTGCCCTTTACCCTCTCAAGACAGAGGACAAATGGAAGATAAGGAGAAAAAGAGGCTGGGGCAAAGGGTGAAGAGAAAGAGGGCAAATGAACAAAATGAAAGGAGGCAAGGGCTGCCTCCAGGTGCTGAGTGTGCAGGGAGGGGAAGACGGGCTGCGCCCCACAGCATGGACATACATGCTTCTGTGTGACGCTGCGGACGTCCCCGACGTACATGATCTTCCCCTGGTGCCGCACCATGCCCACCGTGATGGAGTCCTCACACACCTCCGAGGCAATGTAGCGGTCCACCTGAATGCCCAAGTCCTTCAGCACCAGGAGCCCTGCACCAGCCAGCAGACAGCACCGTTACTTGGAGCCATCTCCCTGGCACCCTGGTCTCGGCAGGTGAGCCTGCTGGCCAACAGGACCCATGGGGTCAGCTGTAGGCCCAAGTCCTATCTTTTCCCTGAAGATGCCTTAAATCCTTTCTGGATCCAACTGGAGTATCCATAGTAAGGACATCGAGGCTCTGTCTCATGCCTCGTTTGGCCTATCTGGAAGGCAGTCAAAGCTGCAGAAAACTGACCGGAGAGTACATGGTTCCAGGATCCAGGAAGAATCACAGCTGACTTTTTGGGGGCCTTTTCTTTGTTGTTGTCCGTCTACAACTTGGTCCTTCCATACCCTCTTATCACCTCCTGCTACAATTCTACCCCACCCTTTGACTCAACCTGAATGTTCCCTGCTCCACAAAGGTTTCATAAATGCCCTGCCCCACCCAGTAGCCCCTGGAATCACCGCCCCCTCCGCTATGAGTCCCCAGCTCTGTGCATCCCTTGCCTCCCCATCAGAGCAGTTTCCATTCCTCACTCAGCCCTCTCGTGGATTGCAAAGGCTCTTCCAGACAGAGGAGGCCTCCTTCATTGTGCTTCCCCCGAGCTAACCACACAGATTTCCTTACCACGATCCCTCCCCCTCCAGAAATGCTAGCCG
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Task1_train_3160
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Assess the clinical impact of this variant on gene DNMT3A (DNA methyltransferase 3 alpha), found on Chromosome 2. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Tatton-Brown-Rahman overgrowth syndrome
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CAACAAGCCCTCGATAGCAACTCTACCAAACATGTATGAGATGGGGAAGGTCCTACAACCTCATGGGAATAGCAAGGAGGGAGATTATTTGACCGAGGCCAGGTGAAATGATGTCTCCTAGTTATACCAAGTATACCAAGCAGCCCACCATGGAGGTTTAACACCCATGACTCAGAACACTCTGGAAAACGCTTCCCTCCACAATGGACAGGGACTGAGCGGCTCTCAGCATGCTTTTGAATTGCCAACTCTGGACAATTTATTTCGCCTAAAAAGCCTTTTTATAATGCCAGTTTTATAACTGATGAAATGAATTTTCTTCATTCCTAGATATTAAAATCTTTATCTGTGTAACCTAACTGAAGAAAATCTCTCCAAAAAAGGACCTGAAGCCAACAAAGTGTGTGATTAGTAAAATTAAGTTAAGCAGAACCCTGAACTTGCATGCAGCCGCTGCAAGATTCCCTCTCCTGGAACAGGCTGTGGCCACAACTCCCCTTCCCAGCCCCAAAGCCATGCCCCATGGCTTTGCCTCAGGAGAATCTAAGAACCAGAGGGCTCGGGACACATCACCAATGTCAGAAAACCAACTACCTAACTCAGCAGCACAGGACTCTTCTTTGGTATAAAGAGAGTACTTTTAAAGGTCCTGCTTTAAGACCACTAGTTGTTGGTTTCAGACGAGTATTTTCTATACCCTGACTCCTCTTCCTCCTCAAGGAAAAGGAAATAAGGAACATGGCAGAGCAGCTAGTCATTCAGCAGAGGCCGGCCAGAGAGGGCCCGGCTCAGGGGCTTCCCCACTATGGGTCATCCCACCTGCAGTCCCAGCCCACAGCCCCCCAGGCCCAGGAGCTTTCACCAACCTGTTCATACCGGGAAGGTTACCCCAGAAGTAGCGGGCCCTGTGTGCAGCTGACACTTCTTTGGCATCAATCATCACAGGGTTGGACTACAAAACAGGAGACGGTTTGAAGATGAGCCAAGGAGGAGCATGAAACAGCGCCGGCATGCTGCTGGGGTCGAGCCTTAAAGCCTCAAAGCCTCTTACTTCTCTCTCAGGAGCCACACACTGGGCTAGCCTGCAGCCTCCAGGAGAAGCTGGAATTACACCTAGCCACATTCCACAAGCTGTCACTGGAACGTTCTAGATCAGCATTGTCCAAATGAACTTCTGCGATGGTGGGTTGTCCTCTACACTGTTCAATTCAGTGGCCACTAGCCCACTAGTACAGGTGGCTATTTTGTACCTAAAATGAGGCCAATGTGATTGAGGAGCTGAATGGTTAATGTTAATGTAAACAGCCGCATGTGGCTGGTGGCTACCATATTGCACAGTGCTGCTCTAGACTACCCAGAGGCTGGGAGAGCCCAGGCTCCAGCGAGTATGGGTGTGTTTACCATGAGCCCTGATTAGAACTCAAACAGACGCCTGCTCACACTTACAGTCAGAACACCAGCTCACAGTGTGACCCACCCCAAGACTCAGGAGCACAGGTGGGCTCAAGCTCCCAGAAGGGCCACTCCAAGCACGCCTCTGGCAGCAGAAGCCCTCTGCACGCGGCTCAGACTTGGCTCAGGGTTAAACGGGGACTCACATGATAAGGAATGAAAACTGAGCTAAGTCTTGTTTTCTTCTCAGGTGCCTGTCATGGTACCAGGGAGTGAGGATAGGCCCTTCTTGCTCAGGGAAAACTGATTTTGTCCTCTCAAAGATCCTGGTGTGTAACAAACACCATACAGAATACCCAACCCCAGGAGTCTGGCACCCCACCTGATTGAGTGACAGGTCCTTCAACCCCGGAGGTCCACACCCACAATGCCACCTCTTAGAGTGAGACCACTGGTTCTTTCCGAGGTAGGCCTCTAACCCTGCTTCCTCCCTTTCTATCCAGGAAGCCTGGGGCTTCCCAAACAGGCCCCTTGCAAAGCAGAAGTCACCAGTCCCCAGCTCCACAATGCAGATGAGACAGGATGAAGCAGCAGTCCAAGGTAGAAGCCATTAGTGAGCTGGCCAAACCAAGGTTGCTGGCTATACCTCGAGAAATCGCGAGATGTCCCTCTTGTCACTAACGCCCATGGCCACCACATTCTCAAAGAGCCAGAAGAAGGGGCGATCATCTCCCTCCTTGGGCCGCGCATCATGCAGGAGGCGGTAGAACTCAAAGAAGAGCCGGCCAGTGCCCTCTGAGAGGTCGGAAGAGAAAGCCATCAGCTGGGGCTGTCTGCATAGGACAGTGGTGTGGCTCGGGCACGGGGAGGGCACGGGAAGACAGGGTCATCGGGAATAGCTGTCCCAGGGCAGAAATATCCAAGGAGGAAGCCTATGTGCGGAAGCACCAGCTGAGAAGGTGGAGGGGACAGGATGGTACCTACCGTAGAGGCCCTTGCGAGCAGGGTTGACGATGGAGAGGTCATTGCAGGGACTGCCCCCAATCACCAGATCGAATGGGCCCCACTCCTGGATCTGGGAGGATAAAGGCAACGTGATGGGCCTGCTGTCCAGGGACAGAGGCAGACAGGAAGAAAGAGAAATTATCTGTGAACTTGGCAAAGAAGTCCTTTGACACGAAAGAGAGGAGACCCAGCTGCTCTGCAGGCTCACGACCCTAGCTGCAACCATGGACAAGTCCTAAACAAGAACGGGACCAAGTTGGATCATTTCTTAGGCCAATGGGGAAACTAGTATCACCCAGGCAGGCAACACAGCCACCCACTGGGAAGGTGACCCAAGTGGACGGCTGAGTCTGAAGGTACCTGGCATGCTGAGTGTCTTAGGCAGGGTGTCTGGGCCATGTGAATGTCCTCCAGTTGCCCTTCAGGACTCCAGAGGGCCTGTAGTCATGCTTAAGGGAAGACCCTGCCTGAGCCTCCCAGATATGGAAGCTGATAAAGCTATTTGCCAAAAGTATTGGGAGGACAGGAACCTCTCTCTAATCCAAAGAGCTCTACTAGAAACTGTCCAGAAACCAGCCCAGGGAGTAGCCAGAGCTCAAGTAGGCACTATGTTGCCCAAGCTAGTCTTAAACCCCTGGCCTCAAGGGATTCTCCTACCTTGGCCTCCCAAAGTGCTGGCATTATAGGCATGAGCCACCATGCCTAGCCCAAATTCCCATTTCAATTTGCCCTTTACCCTCTCAAGACAGAGGACAAATGGAAGATAAGGAGAAAAAGAGGCTGGGGCAAAGGGTGAAGAGAAAGAGGGCAAATGAACAAAATGAAAGGAGGCAAGGGCTGCCTCCAGGTGCTGAGTGTGCAGGGAGGGGAAGACGGGCTGCGCCCCACAGCATGGACATACATGCTTCTGTGTGACGCTGCGGACGTCCCCGACGTACATGATCTTCCCCTGGTGCCGCACCATGCCCACCGTGATGGAGTCCTCACACACCTCCGAGGCAATGTAGCGGTCCACCTGAATGCCCAAGTCCTTCAGCACCAGGAGCCCTGCACCAGCCAGCAGACAGCACCGTTACTTGGAGCCATCTCCCTGGCACCCTGGTCTCGGCAGGTGAGCCTGCTGGCCAACAGGACCCATGGGGTCAGCTGTAGGCCCAAGTCCTATCTTTTCCCTGAAGATGCCTTAAATCCTTTCTGGATCCAACTGGAGTATCCATAGTAAGGACATCGAGGCTCTGTCTCATGCCTCGTTTGGCCTATCTGGAAGGCAGTCAAAGCTGCAGAAAACTGACCGGAGAGTACATGGTTCCAGGATCCAGGAAGAATCACAGCTGACTTTTTGGGGGCCTTTTCTTTGTTGTTGTCCGTCTACAACTTGGTCCTTCCATACCCTCTTATCACCTCCTGCTACAATTCTACCCCACCCTTTGACTCAACCTGAATGTTCCCTGCTCCACAAAGGTTTCATAAATGCCCTGCCCCACCCAGTAGCCCCTGGAATCACCGCCCCCTCCGCTATGAGTCCCCAGCTCTGTGCATCCCTTGCCTCCCCATCAGAGCAGTTTCCATTCCTCACTCAGCCCTCTCGTGGATTGCAAAGGCTCTTCCAGACAGAGGAGGCCTCCTTCATTGTGCTTCCCCCGAGCTAACCACACAGATTTCCTTACCACGATCCCTCCCCCTCCAGAAATGCTAGCCG
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CAACAAGCCCTCGATAGCAACTCTACCAAACATGTATGAGATGGGGAAGGTCCTACAACCTCATGGGAATAGCAAGGAGGGAGATTATTTGACCGAGGCCAGGTGAAATGATGTCTCCTAGTTATACCAAGTATACCAAGCAGCCCACCATGGAGGTTTAACACCCATGACTCAGAACACTCTGGAAAACGCTTCCCTCCACAATGGACAGGGACTGAGCGGCTCTCAGCATGCTTTTGAATTGCCAACTCTGGACAATTTATTTCGCCTAAAAAGCCTTTTTATAATGCCAGTTTTATAACTGATGAAATGAATTTTCTTCATTCCTAGATATTAAAATCTTTATCTGTGTAACCTAACTGAAGAAAATCTCTCCAAAAAAGGACCTGAAGCCAACAAAGTGTGTGATTAGTAAAATTAAGTTAAGCAGAACCCTGAACTTGCATGCAGCCGCTGCAAGATTCCCTCTCCTGGAACAGGCTGTGGCCACAACTCCCCTTCCCAGCCCCAAAGCCATGCCCCATGGCTTTGCCTCAGGAGAATCTAAGAACCAGAGGGCTCGGGACACATCACCAATGTCAGAAAACCAACTACCTAACTCAGCAGCACAGGACTCTTCTTTGGTATAAAGAGAGTACTTTTAAAGGTCCTGCTTTAAGACCACTAGTTGTTGGTTTCAGACGAGTATTTTCTATACCCTGACTCCTCTTCCTCCTCAAGGAAAAGGAAATAAGGAACATGGCAGAGCAGCTAGTCATTCAGCAGAGGCCGGCCAGAGAGGGCCCGGCTCAGGGGCTTCCCCACTATGGGTCATCCCACCTGCAGTCCCAGCCCACAGCCCCCCAGGCCCAGGAGCTTTCACCAACCTGTTCATACCGGGAAGGTTACCCCAGAAGTAGCGGGCCCTGTGTGCAGCTGACACTTCTTTGGCATCAATCATCACAGGGTTGGACTACAAAACAGGAGACGGTTTGAAGATGAGCCAAGGAGGAGCATGAAACAGCGCCGGCATGCTGCTGGGGTCGAGCCTTAAAGCCTCAAAGCCTCTTACTTCTCTCTCAGGAGCCACACACTGGGCTAGCCTGCAGCCTCCAGGAGAAGCTGGAATTACACCTAGCCACATTCCACAAGCTGTCACTGGAACGTTCTAGATCAGCATTGTCCAAATGAACTTCTGCGATGGTGGGTTGTCCTCTACACTGTTCAATTCAGTGGCCACTAGCCCACTAGTACAGGTGGCTATTTTGTACCTAAAATGAGGCCAATGTGATTGAGGAGCTGAATGGTTAATGTTAATGTAAACAGCCGCATGTGGCTGGTGGCTACCATATTGCACAGTGCTGCTCTAGACTACCCAGAGGCTGGGAGAGCCCAGGCTCCAGCGAGTATGGGTGTGTTTACCATGAGCCCTGATTAGAACTCAAACAGACGCCTGCTCACACTTACAGTCAGAACACCAGCTCACAGTGTGACCCACCCCAAGACTCAGGAGCACAGGTGGGCTCAAGCTCCCAGAAGGGCCACTCCAAGCACGCCTCTGGCAGCAGAAGCCCTCTGCACGCGGCTCAGACTTGGCTCAGGGTTAAACGGGGACTCACATGATAAGGAATGAAAACTGAGCTAAGTCTTGTTTTCTTCTCAGGTGCCTGTCATGGTACCAGGGAGTGAGGATAGGCCCTTCTTGCTCAGGGAAAACTGATTTTGTCCTCTCAAAGATCCTGGTGTGTAACAAACACCATACAGAATACCCAACCCCAGGAGTCTGGCACCCCACCTGATTGAGTGACAGGTCCTTCAACCCCGGAGGTCCACACCCACAATGCCACCTCTTAGAGTGAGACCACTGGTTCTTTCCGAGGTAGGCCTCTAACCCTGCTTCCTCCCTTTCTATCCAGGAAGCCTGGGGCTTCCCAAACAGGCCCCTTGCAAAGCAGAAGTCACCAGTCCCCAGCTCCACAATGCAGATGAGACAGGATGAAGCAGCAGTCCAAGGTAGAAGCCATTAGTGAGCTGGCCAAACCAAGGTTGCTGGCTATACCTCGAGAAATTGCGAGATGTCCCTCTTGTCACTAACGCCCATGGCCACCACATTCTCAAAGAGCCAGAAGAAGGGGCGATCATCTCCCTCCTTGGGCCGCGCATCATGCAGGAGGCGGTAGAACTCAAAGAAGAGCCGGCCAGTGCCCTCTGAGAGGTCGGAAGAGAAAGCCATCAGCTGGGGCTGTCTGCATAGGACAGTGGTGTGGCTCGGGCACGGGGAGGGCACGGGAAGACAGGGTCATCGGGAATAGCTGTCCCAGGGCAGAAATATCCAAGGAGGAAGCCTATGTGCGGAAGCACCAGCTGAGAAGGTGGAGGGGACAGGATGGTACCTACCGTAGAGGCCCTTGCGAGCAGGGTTGACGATGGAGAGGTCATTGCAGGGACTGCCCCCAATCACCAGATCGAATGGGCCCCACTCCTGGATCTGGGAGGATAAAGGCAACGTGATGGGCCTGCTGTCCAGGGACAGAGGCAGACAGGAAGAAAGAGAAATTATCTGTGAACTTGGCAAAGAAGTCCTTTGACACGAAAGAGAGGAGACCCAGCTGCTCTGCAGGCTCACGACCCTAGCTGCAACCATGGACAAGTCCTAAACAAGAACGGGACCAAGTTGGATCATTTCTTAGGCCAATGGGGAAACTAGTATCACCCAGGCAGGCAACACAGCCACCCACTGGGAAGGTGACCCAAGTGGACGGCTGAGTCTGAAGGTACCTGGCATGCTGAGTGTCTTAGGCAGGGTGTCTGGGCCATGTGAATGTCCTCCAGTTGCCCTTCAGGACTCCAGAGGGCCTGTAGTCATGCTTAAGGGAAGACCCTGCCTGAGCCTCCCAGATATGGAAGCTGATAAAGCTATTTGCCAAAAGTATTGGGAGGACAGGAACCTCTCTCTAATCCAAAGAGCTCTACTAGAAACTGTCCAGAAACCAGCCCAGGGAGTAGCCAGAGCTCAAGTAGGCACTATGTTGCCCAAGCTAGTCTTAAACCCCTGGCCTCAAGGGATTCTCCTACCTTGGCCTCCCAAAGTGCTGGCATTATAGGCATGAGCCACCATGCCTAGCCCAAATTCCCATTTCAATTTGCCCTTTACCCTCTCAAGACAGAGGACAAATGGAAGATAAGGAGAAAAAGAGGCTGGGGCAAAGGGTGAAGAGAAAGAGGGCAAATGAACAAAATGAAAGGAGGCAAGGGCTGCCTCCAGGTGCTGAGTGTGCAGGGAGGGGAAGACGGGCTGCGCCCCACAGCATGGACATACATGCTTCTGTGTGACGCTGCGGACGTCCCCGACGTACATGATCTTCCCCTGGTGCCGCACCATGCCCACCGTGATGGAGTCCTCACACACCTCCGAGGCAATGTAGCGGTCCACCTGAATGCCCAAGTCCTTCAGCACCAGGAGCCCTGCACCAGCCAGCAGACAGCACCGTTACTTGGAGCCATCTCCCTGGCACCCTGGTCTCGGCAGGTGAGCCTGCTGGCCAACAGGACCCATGGGGTCAGCTGTAGGCCCAAGTCCTATCTTTTCCCTGAAGATGCCTTAAATCCTTTCTGGATCCAACTGGAGTATCCATAGTAAGGACATCGAGGCTCTGTCTCATGCCTCGTTTGGCCTATCTGGAAGGCAGTCAAAGCTGCAGAAAACTGACCGGAGAGTACATGGTTCCAGGATCCAGGAAGAATCACAGCTGACTTTTTGGGGGCCTTTTCTTTGTTGTTGTCCGTCTACAACTTGGTCCTTCCATACCCTCTTATCACCTCCTGCTACAATTCTACCCCACCCTTTGACTCAACCTGAATGTTCCCTGCTCCACAAAGGTTTCATAAATGCCCTGCCCCACCCAGTAGCCCCTGGAATCACCGCCCCCTCCGCTATGAGTCCCCAGCTCTGTGCATCCCTTGCCTCCCCATCAGAGCAGTTTCCATTCCTCACTCAGCCCTCTCGTGGATTGCAAAGGCTCTTCCAGACAGAGGAGGCCTCCTTCATTGTGCTTCCCCCGAGCTAACCACACAGATTTCCTTACCACGATCCCTCCCCCTCCAGAAATGCTAGCCG
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Task1_train_3161
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This variant impacts the gene DNMT3A (DNA methyltransferase 3 alpha) on Chromosome 2. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Tatton-Brown-Rahman overgrowth syndrome
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AATAGCAAGGAGGGAGATTATTTGACCGAGGCCAGGTGAAATGATGTCTCCTAGTTATACCAAGTATACCAAGCAGCCCACCATGGAGGTTTAACACCCATGACTCAGAACACTCTGGAAAACGCTTCCCTCCACAATGGACAGGGACTGAGCGGCTCTCAGCATGCTTTTGAATTGCCAACTCTGGACAATTTATTTCGCCTAAAAAGCCTTTTTATAATGCCAGTTTTATAACTGATGAAATGAATTTTCTTCATTCCTAGATATTAAAATCTTTATCTGTGTAACCTAACTGAAGAAAATCTCTCCAAAAAAGGACCTGAAGCCAACAAAGTGTGTGATTAGTAAAATTAAGTTAAGCAGAACCCTGAACTTGCATGCAGCCGCTGCAAGATTCCCTCTCCTGGAACAGGCTGTGGCCACAACTCCCCTTCCCAGCCCCAAAGCCATGCCCCATGGCTTTGCCTCAGGAGAATCTAAGAACCAGAGGGCTCGGGACACATCACCAATGTCAGAAAACCAACTACCTAACTCAGCAGCACAGGACTCTTCTTTGGTATAAAGAGAGTACTTTTAAAGGTCCTGCTTTAAGACCACTAGTTGTTGGTTTCAGACGAGTATTTTCTATACCCTGACTCCTCTTCCTCCTCAAGGAAAAGGAAATAAGGAACATGGCAGAGCAGCTAGTCATTCAGCAGAGGCCGGCCAGAGAGGGCCCGGCTCAGGGGCTTCCCCACTATGGGTCATCCCACCTGCAGTCCCAGCCCACAGCCCCCCAGGCCCAGGAGCTTTCACCAACCTGTTCATACCGGGAAGGTTACCCCAGAAGTAGCGGGCCCTGTGTGCAGCTGACACTTCTTTGGCATCAATCATCACAGGGTTGGACTACAAAACAGGAGACGGTTTGAAGATGAGCCAAGGAGGAGCATGAAACAGCGCCGGCATGCTGCTGGGGTCGAGCCTTAAAGCCTCAAAGCCTCTTACTTCTCTCTCAGGAGCCACACACTGGGCTAGCCTGCAGCCTCCAGGAGAAGCTGGAATTACACCTAGCCACATTCCACAAGCTGTCACTGGAACGTTCTAGATCAGCATTGTCCAAATGAACTTCTGCGATGGTGGGTTGTCCTCTACACTGTTCAATTCAGTGGCCACTAGCCCACTAGTACAGGTGGCTATTTTGTACCTAAAATGAGGCCAATGTGATTGAGGAGCTGAATGGTTAATGTTAATGTAAACAGCCGCATGTGGCTGGTGGCTACCATATTGCACAGTGCTGCTCTAGACTACCCAGAGGCTGGGAGAGCCCAGGCTCCAGCGAGTATGGGTGTGTTTACCATGAGCCCTGATTAGAACTCAAACAGACGCCTGCTCACACTTACAGTCAGAACACCAGCTCACAGTGTGACCCACCCCAAGACTCAGGAGCACAGGTGGGCTCAAGCTCCCAGAAGGGCCACTCCAAGCACGCCTCTGGCAGCAGAAGCCCTCTGCACGCGGCTCAGACTTGGCTCAGGGTTAAACGGGGACTCACATGATAAGGAATGAAAACTGAGCTAAGTCTTGTTTTCTTCTCAGGTGCCTGTCATGGTACCAGGGAGTGAGGATAGGCCCTTCTTGCTCAGGGAAAACTGATTTTGTCCTCTCAAAGATCCTGGTGTGTAACAAACACCATACAGAATACCCAACCCCAGGAGTCTGGCACCCCACCTGATTGAGTGACAGGTCCTTCAACCCCGGAGGTCCACACCCACAATGCCACCTCTTAGAGTGAGACCACTGGTTCTTTCCGAGGTAGGCCTCTAACCCTGCTTCCTCCCTTTCTATCCAGGAAGCCTGGGGCTTCCCAAACAGGCCCCTTGCAAAGCAGAAGTCACCAGTCCCCAGCTCCACAATGCAGATGAGACAGGATGAAGCAGCAGTCCAAGGTAGAAGCCATTAGTGAGCTGGCCAAACCAAGGTTGCTGGCTATACCTCGAGAAATCGCGAGATGTCCCTCTTGTCACTAACGCCCATGGCCACCACATTCTCAAAGAGCCAGAAGAAGGGGCGATCATCTCCCTCCTTGGGCCGCGCATCATGCAGGAGGCGGTAGAACTCAAAGAAGAGCCGGCCAGTGCCCTCTGAGAGGTCGGAAGAGAAAGCCATCAGCTGGGGCTGTCTGCATAGGACAGTGGTGTGGCTCGGGCACGGGGAGGGCACGGGAAGACAGGGTCATCGGGAATAGCTGTCCCAGGGCAGAAATATCCAAGGAGGAAGCCTATGTGCGGAAGCACCAGCTGAGAAGGTGGAGGGGACAGGATGGTACCTACCGTAGAGGCCCTTGCGAGCAGGGTTGACGATGGAGAGGTCATTGCAGGGACTGCCCCCAATCACCAGATCGAATGGGCCCCACTCCTGGATCTGGGAGGATAAAGGCAACGTGATGGGCCTGCTGTCCAGGGACAGAGGCAGACAGGAAGAAAGAGAAATTATCTGTGAACTTGGCAAAGAAGTCCTTTGACACGAAAGAGAGGAGACCCAGCTGCTCTGCAGGCTCACGACCCTAGCTGCAACCATGGACAAGTCCTAAACAAGAACGGGACCAAGTTGGATCATTTCTTAGGCCAATGGGGAAACTAGTATCACCCAGGCAGGCAACACAGCCACCCACTGGGAAGGTGACCCAAGTGGACGGCTGAGTCTGAAGGTACCTGGCATGCTGAGTGTCTTAGGCAGGGTGTCTGGGCCATGTGAATGTCCTCCAGTTGCCCTTCAGGACTCCAGAGGGCCTGTAGTCATGCTTAAGGGAAGACCCTGCCTGAGCCTCCCAGATATGGAAGCTGATAAAGCTATTTGCCAAAAGTATTGGGAGGACAGGAACCTCTCTCTAATCCAAAGAGCTCTACTAGAAACTGTCCAGAAACCAGCCCAGGGAGTAGCCAGAGCTCAAGTAGGCACTATGTTGCCCAAGCTAGTCTTAAACCCCTGGCCTCAAGGGATTCTCCTACCTTGGCCTCCCAAAGTGCTGGCATTATAGGCATGAGCCACCATGCCTAGCCCAAATTCCCATTTCAATTTGCCCTTTACCCTCTCAAGACAGAGGACAAATGGAAGATAAGGAGAAAAAGAGGCTGGGGCAAAGGGTGAAGAGAAAGAGGGCAAATGAACAAAATGAAAGGAGGCAAGGGCTGCCTCCAGGTGCTGAGTGTGCAGGGAGGGGAAGACGGGCTGCGCCCCACAGCATGGACATACATGCTTCTGTGTGACGCTGCGGACGTCCCCGACGTACATGATCTTCCCCTGGTGCCGCACCATGCCCACCGTGATGGAGTCCTCACACACCTCCGAGGCAATGTAGCGGTCCACCTGAATGCCCAAGTCCTTCAGCACCAGGAGCCCTGCACCAGCCAGCAGACAGCACCGTTACTTGGAGCCATCTCCCTGGCACCCTGGTCTCGGCAGGTGAGCCTGCTGGCCAACAGGACCCATGGGGTCAGCTGTAGGCCCAAGTCCTATCTTTTCCCTGAAGATGCCTTAAATCCTTTCTGGATCCAACTGGAGTATCCATAGTAAGGACATCGAGGCTCTGTCTCATGCCTCGTTTGGCCTATCTGGAAGGCAGTCAAAGCTGCAGAAAACTGACCGGAGAGTACATGGTTCCAGGATCCAGGAAGAATCACAGCTGACTTTTTGGGGGCCTTTTCTTTGTTGTTGTCCGTCTACAACTTGGTCCTTCCATACCCTCTTATCACCTCCTGCTACAATTCTACCCCACCCTTTGACTCAACCTGAATGTTCCCTGCTCCACAAAGGTTTCATAAATGCCCTGCCCCACCCAGTAGCCCCTGGAATCACCGCCCCCTCCGCTATGAGTCCCCAGCTCTGTGCATCCCTTGCCTCCCCATCAGAGCAGTTTCCATTCCTCACTCAGCCCTCTCGTGGATTGCAAAGGCTCTTCCAGACAGAGGAGGCCTCCTTCATTGTGCTTCCCCCGAGCTAACCACACAGATTTCCTTACCACGATCCCTCCCCCTCCAGAAATGCTAGCCGAACTGAGGCAAGGAAACAATCAGAGCAGATCCCGAGAGGGTCTCGGGAGAAACAGGGTACGGCACTG
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AATAGCAAGGAGGGAGATTATTTGACCGAGGCCAGGTGAAATGATGTCTCCTAGTTATACCAAGTATACCAAGCAGCCCACCATGGAGGTTTAACACCCATGACTCAGAACACTCTGGAAAACGCTTCCCTCCACAATGGACAGGGACTGAGCGGCTCTCAGCATGCTTTTGAATTGCCAACTCTGGACAATTTATTTCGCCTAAAAAGCCTTTTTATAATGCCAGTTTTATAACTGATGAAATGAATTTTCTTCATTCCTAGATATTAAAATCTTTATCTGTGTAACCTAACTGAAGAAAATCTCTCCAAAAAAGGACCTGAAGCCAACAAAGTGTGTGATTAGTAAAATTAAGTTAAGCAGAACCCTGAACTTGCATGCAGCCGCTGCAAGATTCCCTCTCCTGGAACAGGCTGTGGCCACAACTCCCCTTCCCAGCCCCAAAGCCATGCCCCATGGCTTTGCCTCAGGAGAATCTAAGAACCAGAGGGCTCGGGACACATCACCAATGTCAGAAAACCAACTACCTAACTCAGCAGCACAGGACTCTTCTTTGGTATAAAGAGAGTACTTTTAAAGGTCCTGCTTTAAGACCACTAGTTGTTGGTTTCAGACGAGTATTTTCTATACCCTGACTCCTCTTCCTCCTCAAGGAAAAGGAAATAAGGAACATGGCAGAGCAGCTAGTCATTCAGCAGAGGCCGGCCAGAGAGGGCCCGGCTCAGGGGCTTCCCCACTATGGGTCATCCCACCTGCAGTCCCAGCCCACAGCCCCCCAGGCCCAGGAGCTTTCACCAACCTGTTCATACCGGGAAGGTTACCCCAGAAGTAGCGGGCCCTGTGTGCAGCTGACACTTCTTTGGCATCAATCATCACAGGGTTGGACTACAAAACAGGAGACGGTTTGAAGATGAGCCAAGGAGGAGCATGAAACAGCGCCGGCATGCTGCTGGGGTCGAGCCTTAAAGCCTCAAAGCCTCTTACTTCTCTCTCAGGAGCCACACACTGGGCTAGCCTGCAGCCTCCAGGAGAAGCTGGAATTACACCTAGCCACATTCCACAAGCTGTCACTGGAACGTTCTAGATCAGCATTGTCCAAATGAACTTCTGCGATGGTGGGTTGTCCTCTACACTGTTCAATTCAGTGGCCACTAGCCCACTAGTACAGGTGGCTATTTTGTACCTAAAATGAGGCCAATGTGATTGAGGAGCTGAATGGTTAATGTTAATGTAAACAGCCGCATGTGGCTGGTGGCTACCATATTGCACAGTGCTGCTCTAGACTACCCAGAGGCTGGGAGAGCCCAGGCTCCAGCGAGTATGGGTGTGTTTACCATGAGCCCTGATTAGAACTCAAACAGACGCCTGCTCACACTTACAGTCAGAACACCAGCTCACAGTGTGACCCACCCCAAGACTCAGGAGCACAGGTGGGCTCAAGCTCCCAGAAGGGCCACTCCAAGCACGCCTCTGGCAGCAGAAGCCCTCTGCACGCGGCTCAGACTTGGCTCAGGGTTAAACGGGGACTCACATGATAAGGAATGAAAACTGAGCTAAGTCTTGTTTTCTTCTCAGGTGCCTGTCATGGTACCAGGGAGTGAGGATAGGCCCTTCTTGCTCAGGGAAAACTGATTTTGTCCTCTCAAAGATCCTGGTGTGTAACAAACACCATACAGAATACCCAACCCCAGGAGTCTGGCACCCCACCTGATTGAGTGACAGGTCCTTCAACCCCGGAGGTCCACACCCACAATGCCACCTCTTAGAGTGAGACCACTGGTTCTTTCCGAGGTAGGCCTCTAACCCTGCTTCCTCCCTTTCTATCCAGGAAGCCTGGGGCTTCCCAAACAGGCCCCTTGCAAAGCAGAAGTCACCAGTCCCCAGCTCCACAATGCAGATGAGACAGGATGAAGCAGCAGTCCAAGGTAGAAGCCATTAGTGAGCTGGCCAAACCAAGGTTGCTGGCTATACCTCGAGAAATCGCGAGATGTCCCTCTTGTCACTAACGCCCATGGCCACCACATTCTCAAAGAGCCAGAAGAAGGGGCAATCATCTCCCTCCTTGGGCCGCGCATCATGCAGGAGGCGGTAGAACTCAAAGAAGAGCCGGCCAGTGCCCTCTGAGAGGTCGGAAGAGAAAGCCATCAGCTGGGGCTGTCTGCATAGGACAGTGGTGTGGCTCGGGCACGGGGAGGGCACGGGAAGACAGGGTCATCGGGAATAGCTGTCCCAGGGCAGAAATATCCAAGGAGGAAGCCTATGTGCGGAAGCACCAGCTGAGAAGGTGGAGGGGACAGGATGGTACCTACCGTAGAGGCCCTTGCGAGCAGGGTTGACGATGGAGAGGTCATTGCAGGGACTGCCCCCAATCACCAGATCGAATGGGCCCCACTCCTGGATCTGGGAGGATAAAGGCAACGTGATGGGCCTGCTGTCCAGGGACAGAGGCAGACAGGAAGAAAGAGAAATTATCTGTGAACTTGGCAAAGAAGTCCTTTGACACGAAAGAGAGGAGACCCAGCTGCTCTGCAGGCTCACGACCCTAGCTGCAACCATGGACAAGTCCTAAACAAGAACGGGACCAAGTTGGATCATTTCTTAGGCCAATGGGGAAACTAGTATCACCCAGGCAGGCAACACAGCCACCCACTGGGAAGGTGACCCAAGTGGACGGCTGAGTCTGAAGGTACCTGGCATGCTGAGTGTCTTAGGCAGGGTGTCTGGGCCATGTGAATGTCCTCCAGTTGCCCTTCAGGACTCCAGAGGGCCTGTAGTCATGCTTAAGGGAAGACCCTGCCTGAGCCTCCCAGATATGGAAGCTGATAAAGCTATTTGCCAAAAGTATTGGGAGGACAGGAACCTCTCTCTAATCCAAAGAGCTCTACTAGAAACTGTCCAGAAACCAGCCCAGGGAGTAGCCAGAGCTCAAGTAGGCACTATGTTGCCCAAGCTAGTCTTAAACCCCTGGCCTCAAGGGATTCTCCTACCTTGGCCTCCCAAAGTGCTGGCATTATAGGCATGAGCCACCATGCCTAGCCCAAATTCCCATTTCAATTTGCCCTTTACCCTCTCAAGACAGAGGACAAATGGAAGATAAGGAGAAAAAGAGGCTGGGGCAAAGGGTGAAGAGAAAGAGGGCAAATGAACAAAATGAAAGGAGGCAAGGGCTGCCTCCAGGTGCTGAGTGTGCAGGGAGGGGAAGACGGGCTGCGCCCCACAGCATGGACATACATGCTTCTGTGTGACGCTGCGGACGTCCCCGACGTACATGATCTTCCCCTGGTGCCGCACCATGCCCACCGTGATGGAGTCCTCACACACCTCCGAGGCAATGTAGCGGTCCACCTGAATGCCCAAGTCCTTCAGCACCAGGAGCCCTGCACCAGCCAGCAGACAGCACCGTTACTTGGAGCCATCTCCCTGGCACCCTGGTCTCGGCAGGTGAGCCTGCTGGCCAACAGGACCCATGGGGTCAGCTGTAGGCCCAAGTCCTATCTTTTCCCTGAAGATGCCTTAAATCCTTTCTGGATCCAACTGGAGTATCCATAGTAAGGACATCGAGGCTCTGTCTCATGCCTCGTTTGGCCTATCTGGAAGGCAGTCAAAGCTGCAGAAAACTGACCGGAGAGTACATGGTTCCAGGATCCAGGAAGAATCACAGCTGACTTTTTGGGGGCCTTTTCTTTGTTGTTGTCCGTCTACAACTTGGTCCTTCCATACCCTCTTATCACCTCCTGCTACAATTCTACCCCACCCTTTGACTCAACCTGAATGTTCCCTGCTCCACAAAGGTTTCATAAATGCCCTGCCCCACCCAGTAGCCCCTGGAATCACCGCCCCCTCCGCTATGAGTCCCCAGCTCTGTGCATCCCTTGCCTCCCCATCAGAGCAGTTTCCATTCCTCACTCAGCCCTCTCGTGGATTGCAAAGGCTCTTCCAGACAGAGGAGGCCTCCTTCATTGTGCTTCCCCCGAGCTAACCACACAGATTTCCTTACCACGATCCCTCCCCCTCCAGAAATGCTAGCCGAACTGAGGCAAGGAAACAATCAGAGCAGATCCCGAGAGGGTCTCGGGAGAAACAGGGTACGGCACTG
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Task1_train_3162
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Given this variant in gene DNMT3A (DNA methyltransferase 3 alpha) on Chromosome 2, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Tatton-Brown-Rahman overgrowth syndrome
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AAATGATGTCTCCTAGTTATACCAAGTATACCAAGCAGCCCACCATGGAGGTTTAACACCCATGACTCAGAACACTCTGGAAAACGCTTCCCTCCACAATGGACAGGGACTGAGCGGCTCTCAGCATGCTTTTGAATTGCCAACTCTGGACAATTTATTTCGCCTAAAAAGCCTTTTTATAATGCCAGTTTTATAACTGATGAAATGAATTTTCTTCATTCCTAGATATTAAAATCTTTATCTGTGTAACCTAACTGAAGAAAATCTCTCCAAAAAAGGACCTGAAGCCAACAAAGTGTGTGATTAGTAAAATTAAGTTAAGCAGAACCCTGAACTTGCATGCAGCCGCTGCAAGATTCCCTCTCCTGGAACAGGCTGTGGCCACAACTCCCCTTCCCAGCCCCAAAGCCATGCCCCATGGCTTTGCCTCAGGAGAATCTAAGAACCAGAGGGCTCGGGACACATCACCAATGTCAGAAAACCAACTACCTAACTCAGCAGCACAGGACTCTTCTTTGGTATAAAGAGAGTACTTTTAAAGGTCCTGCTTTAAGACCACTAGTTGTTGGTTTCAGACGAGTATTTTCTATACCCTGACTCCTCTTCCTCCTCAAGGAAAAGGAAATAAGGAACATGGCAGAGCAGCTAGTCATTCAGCAGAGGCCGGCCAGAGAGGGCCCGGCTCAGGGGCTTCCCCACTATGGGTCATCCCACCTGCAGTCCCAGCCCACAGCCCCCCAGGCCCAGGAGCTTTCACCAACCTGTTCATACCGGGAAGGTTACCCCAGAAGTAGCGGGCCCTGTGTGCAGCTGACACTTCTTTGGCATCAATCATCACAGGGTTGGACTACAAAACAGGAGACGGTTTGAAGATGAGCCAAGGAGGAGCATGAAACAGCGCCGGCATGCTGCTGGGGTCGAGCCTTAAAGCCTCAAAGCCTCTTACTTCTCTCTCAGGAGCCACACACTGGGCTAGCCTGCAGCCTCCAGGAGAAGCTGGAATTACACCTAGCCACATTCCACAAGCTGTCACTGGAACGTTCTAGATCAGCATTGTCCAAATGAACTTCTGCGATGGTGGGTTGTCCTCTACACTGTTCAATTCAGTGGCCACTAGCCCACTAGTACAGGTGGCTATTTTGTACCTAAAATGAGGCCAATGTGATTGAGGAGCTGAATGGTTAATGTTAATGTAAACAGCCGCATGTGGCTGGTGGCTACCATATTGCACAGTGCTGCTCTAGACTACCCAGAGGCTGGGAGAGCCCAGGCTCCAGCGAGTATGGGTGTGTTTACCATGAGCCCTGATTAGAACTCAAACAGACGCCTGCTCACACTTACAGTCAGAACACCAGCTCACAGTGTGACCCACCCCAAGACTCAGGAGCACAGGTGGGCTCAAGCTCCCAGAAGGGCCACTCCAAGCACGCCTCTGGCAGCAGAAGCCCTCTGCACGCGGCTCAGACTTGGCTCAGGGTTAAACGGGGACTCACATGATAAGGAATGAAAACTGAGCTAAGTCTTGTTTTCTTCTCAGGTGCCTGTCATGGTACCAGGGAGTGAGGATAGGCCCTTCTTGCTCAGGGAAAACTGATTTTGTCCTCTCAAAGATCCTGGTGTGTAACAAACACCATACAGAATACCCAACCCCAGGAGTCTGGCACCCCACCTGATTGAGTGACAGGTCCTTCAACCCCGGAGGTCCACACCCACAATGCCACCTCTTAGAGTGAGACCACTGGTTCTTTCCGAGGTAGGCCTCTAACCCTGCTTCCTCCCTTTCTATCCAGGAAGCCTGGGGCTTCCCAAACAGGCCCCTTGCAAAGCAGAAGTCACCAGTCCCCAGCTCCACAATGCAGATGAGACAGGATGAAGCAGCAGTCCAAGGTAGAAGCCATTAGTGAGCTGGCCAAACCAAGGTTGCTGGCTATACCTCGAGAAATCGCGAGATGTCCCTCTTGTCACTAACGCCCATGGCCACCACATTCTCAAAGAGCCAGAAGAAGGGGCGATCATCTCCCTCCTTGGGCCGCGCATCATGCAGGAGGCGGTAGAACTCAAAGAAGAGCCGGCCAGTGCCCTCTGAGAGGTCGGAAGAGAAAGCCATCAGCTGGGGCTGTCTGCATAGGACAGTGGTGTGGCTCGGGCACGGGGAGGGCACGGGAAGACAGGGTCATCGGGAATAGCTGTCCCAGGGCAGAAATATCCAAGGAGGAAGCCTATGTGCGGAAGCACCAGCTGAGAAGGTGGAGGGGACAGGATGGTACCTACCGTAGAGGCCCTTGCGAGCAGGGTTGACGATGGAGAGGTCATTGCAGGGACTGCCCCCAATCACCAGATCGAATGGGCCCCACTCCTGGATCTGGGAGGATAAAGGCAACGTGATGGGCCTGCTGTCCAGGGACAGAGGCAGACAGGAAGAAAGAGAAATTATCTGTGAACTTGGCAAAGAAGTCCTTTGACACGAAAGAGAGGAGACCCAGCTGCTCTGCAGGCTCACGACCCTAGCTGCAACCATGGACAAGTCCTAAACAAGAACGGGACCAAGTTGGATCATTTCTTAGGCCAATGGGGAAACTAGTATCACCCAGGCAGGCAACACAGCCACCCACTGGGAAGGTGACCCAAGTGGACGGCTGAGTCTGAAGGTACCTGGCATGCTGAGTGTCTTAGGCAGGGTGTCTGGGCCATGTGAATGTCCTCCAGTTGCCCTTCAGGACTCCAGAGGGCCTGTAGTCATGCTTAAGGGAAGACCCTGCCTGAGCCTCCCAGATATGGAAGCTGATAAAGCTATTTGCCAAAAGTATTGGGAGGACAGGAACCTCTCTCTAATCCAAAGAGCTCTACTAGAAACTGTCCAGAAACCAGCCCAGGGAGTAGCCAGAGCTCAAGTAGGCACTATGTTGCCCAAGCTAGTCTTAAACCCCTGGCCTCAAGGGATTCTCCTACCTTGGCCTCCCAAAGTGCTGGCATTATAGGCATGAGCCACCATGCCTAGCCCAAATTCCCATTTCAATTTGCCCTTTACCCTCTCAAGACAGAGGACAAATGGAAGATAAGGAGAAAAAGAGGCTGGGGCAAAGGGTGAAGAGAAAGAGGGCAAATGAACAAAATGAAAGGAGGCAAGGGCTGCCTCCAGGTGCTGAGTGTGCAGGGAGGGGAAGACGGGCTGCGCCCCACAGCATGGACATACATGCTTCTGTGTGACGCTGCGGACGTCCCCGACGTACATGATCTTCCCCTGGTGCCGCACCATGCCCACCGTGATGGAGTCCTCACACACCTCCGAGGCAATGTAGCGGTCCACCTGAATGCCCAAGTCCTTCAGCACCAGGAGCCCTGCACCAGCCAGCAGACAGCACCGTTACTTGGAGCCATCTCCCTGGCACCCTGGTCTCGGCAGGTGAGCCTGCTGGCCAACAGGACCCATGGGGTCAGCTGTAGGCCCAAGTCCTATCTTTTCCCTGAAGATGCCTTAAATCCTTTCTGGATCCAACTGGAGTATCCATAGTAAGGACATCGAGGCTCTGTCTCATGCCTCGTTTGGCCTATCTGGAAGGCAGTCAAAGCTGCAGAAAACTGACCGGAGAGTACATGGTTCCAGGATCCAGGAAGAATCACAGCTGACTTTTTGGGGGCCTTTTCTTTGTTGTTGTCCGTCTACAACTTGGTCCTTCCATACCCTCTTATCACCTCCTGCTACAATTCTACCCCACCCTTTGACTCAACCTGAATGTTCCCTGCTCCACAAAGGTTTCATAAATGCCCTGCCCCACCCAGTAGCCCCTGGAATCACCGCCCCCTCCGCTATGAGTCCCCAGCTCTGTGCATCCCTTGCCTCCCCATCAGAGCAGTTTCCATTCCTCACTCAGCCCTCTCGTGGATTGCAAAGGCTCTTCCAGACAGAGGAGGCCTCCTTCATTGTGCTTCCCCCGAGCTAACCACACAGATTTCCTTACCACGATCCCTCCCCCTCCAGAAATGCTAGCCGAACTGAGGCAAGGAAACAATCAGAGCAGATCCCGAGAGGGTCTCGGGAGAAACAGGGTACGGCACTGTTTCTGCTGCTCCCAACATGTCCCCCAGCCAAGGAGCT
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AAATGATGTCTCCTAGTTATACCAAGTATACCAAGCAGCCCACCATGGAGGTTTAACACCCATGACTCAGAACACTCTGGAAAACGCTTCCCTCCACAATGGACAGGGACTGAGCGGCTCTCAGCATGCTTTTGAATTGCCAACTCTGGACAATTTATTTCGCCTAAAAAGCCTTTTTATAATGCCAGTTTTATAACTGATGAAATGAATTTTCTTCATTCCTAGATATTAAAATCTTTATCTGTGTAACCTAACTGAAGAAAATCTCTCCAAAAAAGGACCTGAAGCCAACAAAGTGTGTGATTAGTAAAATTAAGTTAAGCAGAACCCTGAACTTGCATGCAGCCGCTGCAAGATTCCCTCTCCTGGAACAGGCTGTGGCCACAACTCCCCTTCCCAGCCCCAAAGCCATGCCCCATGGCTTTGCCTCAGGAGAATCTAAGAACCAGAGGGCTCGGGACACATCACCAATGTCAGAAAACCAACTACCTAACTCAGCAGCACAGGACTCTTCTTTGGTATAAAGAGAGTACTTTTAAAGGTCCTGCTTTAAGACCACTAGTTGTTGGTTTCAGACGAGTATTTTCTATACCCTGACTCCTCTTCCTCCTCAAGGAAAAGGAAATAAGGAACATGGCAGAGCAGCTAGTCATTCAGCAGAGGCCGGCCAGAGAGGGCCCGGCTCAGGGGCTTCCCCACTATGGGTCATCCCACCTGCAGTCCCAGCCCACAGCCCCCCAGGCCCAGGAGCTTTCACCAACCTGTTCATACCGGGAAGGTTACCCCAGAAGTAGCGGGCCCTGTGTGCAGCTGACACTTCTTTGGCATCAATCATCACAGGGTTGGACTACAAAACAGGAGACGGTTTGAAGATGAGCCAAGGAGGAGCATGAAACAGCGCCGGCATGCTGCTGGGGTCGAGCCTTAAAGCCTCAAAGCCTCTTACTTCTCTCTCAGGAGCCACACACTGGGCTAGCCTGCAGCCTCCAGGAGAAGCTGGAATTACACCTAGCCACATTCCACAAGCTGTCACTGGAACGTTCTAGATCAGCATTGTCCAAATGAACTTCTGCGATGGTGGGTTGTCCTCTACACTGTTCAATTCAGTGGCCACTAGCCCACTAGTACAGGTGGCTATTTTGTACCTAAAATGAGGCCAATGTGATTGAGGAGCTGAATGGTTAATGTTAATGTAAACAGCCGCATGTGGCTGGTGGCTACCATATTGCACAGTGCTGCTCTAGACTACCCAGAGGCTGGGAGAGCCCAGGCTCCAGCGAGTATGGGTGTGTTTACCATGAGCCCTGATTAGAACTCAAACAGACGCCTGCTCACACTTACAGTCAGAACACCAGCTCACAGTGTGACCCACCCCAAGACTCAGGAGCACAGGTGGGCTCAAGCTCCCAGAAGGGCCACTCCAAGCACGCCTCTGGCAGCAGAAGCCCTCTGCACGCGGCTCAGACTTGGCTCAGGGTTAAACGGGGACTCACATGATAAGGAATGAAAACTGAGCTAAGTCTTGTTTTCTTCTCAGGTGCCTGTCATGGTACCAGGGAGTGAGGATAGGCCCTTCTTGCTCAGGGAAAACTGATTTTGTCCTCTCAAAGATCCTGGTGTGTAACAAACACCATACAGAATACCCAACCCCAGGAGTCTGGCACCCCACCTGATTGAGTGACAGGTCCTTCAACCCCGGAGGTCCACACCCACAATGCCACCTCTTAGAGTGAGACCACTGGTTCTTTCCGAGGTAGGCCTCTAACCCTGCTTCCTCCCTTTCTATCCAGGAAGCCTGGGGCTTCCCAAACAGGCCCCTTGCAAAGCAGAAGTCACCAGTCCCCAGCTCCACAATGCAGATGAGACAGGATGAAGCAGCAGTCCAAGGTAGAAGCCATTAGTGAGCTGGCCAAACCAAGGTTGCTGGCTATACCTCGAGAAATCGCGAGATGTCCCTCTTGTCACTAACGCCCATGGCCACCACATTCTCAAAGAGCCAGAAGAAGGGGCGATCATCTCCCTCCTTGGGCCGCGCATCATGCAGGAGGTGGTAGAACTCAAAGAAGAGCCGGCCAGTGCCCTCTGAGAGGTCGGAAGAGAAAGCCATCAGCTGGGGCTGTCTGCATAGGACAGTGGTGTGGCTCGGGCACGGGGAGGGCACGGGAAGACAGGGTCATCGGGAATAGCTGTCCCAGGGCAGAAATATCCAAGGAGGAAGCCTATGTGCGGAAGCACCAGCTGAGAAGGTGGAGGGGACAGGATGGTACCTACCGTAGAGGCCCTTGCGAGCAGGGTTGACGATGGAGAGGTCATTGCAGGGACTGCCCCCAATCACCAGATCGAATGGGCCCCACTCCTGGATCTGGGAGGATAAAGGCAACGTGATGGGCCTGCTGTCCAGGGACAGAGGCAGACAGGAAGAAAGAGAAATTATCTGTGAACTTGGCAAAGAAGTCCTTTGACACGAAAGAGAGGAGACCCAGCTGCTCTGCAGGCTCACGACCCTAGCTGCAACCATGGACAAGTCCTAAACAAGAACGGGACCAAGTTGGATCATTTCTTAGGCCAATGGGGAAACTAGTATCACCCAGGCAGGCAACACAGCCACCCACTGGGAAGGTGACCCAAGTGGACGGCTGAGTCTGAAGGTACCTGGCATGCTGAGTGTCTTAGGCAGGGTGTCTGGGCCATGTGAATGTCCTCCAGTTGCCCTTCAGGACTCCAGAGGGCCTGTAGTCATGCTTAAGGGAAGACCCTGCCTGAGCCTCCCAGATATGGAAGCTGATAAAGCTATTTGCCAAAAGTATTGGGAGGACAGGAACCTCTCTCTAATCCAAAGAGCTCTACTAGAAACTGTCCAGAAACCAGCCCAGGGAGTAGCCAGAGCTCAAGTAGGCACTATGTTGCCCAAGCTAGTCTTAAACCCCTGGCCTCAAGGGATTCTCCTACCTTGGCCTCCCAAAGTGCTGGCATTATAGGCATGAGCCACCATGCCTAGCCCAAATTCCCATTTCAATTTGCCCTTTACCCTCTCAAGACAGAGGACAAATGGAAGATAAGGAGAAAAAGAGGCTGGGGCAAAGGGTGAAGAGAAAGAGGGCAAATGAACAAAATGAAAGGAGGCAAGGGCTGCCTCCAGGTGCTGAGTGTGCAGGGAGGGGAAGACGGGCTGCGCCCCACAGCATGGACATACATGCTTCTGTGTGACGCTGCGGACGTCCCCGACGTACATGATCTTCCCCTGGTGCCGCACCATGCCCACCGTGATGGAGTCCTCACACACCTCCGAGGCAATGTAGCGGTCCACCTGAATGCCCAAGTCCTTCAGCACCAGGAGCCCTGCACCAGCCAGCAGACAGCACCGTTACTTGGAGCCATCTCCCTGGCACCCTGGTCTCGGCAGGTGAGCCTGCTGGCCAACAGGACCCATGGGGTCAGCTGTAGGCCCAAGTCCTATCTTTTCCCTGAAGATGCCTTAAATCCTTTCTGGATCCAACTGGAGTATCCATAGTAAGGACATCGAGGCTCTGTCTCATGCCTCGTTTGGCCTATCTGGAAGGCAGTCAAAGCTGCAGAAAACTGACCGGAGAGTACATGGTTCCAGGATCCAGGAAGAATCACAGCTGACTTTTTGGGGGCCTTTTCTTTGTTGTTGTCCGTCTACAACTTGGTCCTTCCATACCCTCTTATCACCTCCTGCTACAATTCTACCCCACCCTTTGACTCAACCTGAATGTTCCCTGCTCCACAAAGGTTTCATAAATGCCCTGCCCCACCCAGTAGCCCCTGGAATCACCGCCCCCTCCGCTATGAGTCCCCAGCTCTGTGCATCCCTTGCCTCCCCATCAGAGCAGTTTCCATTCCTCACTCAGCCCTCTCGTGGATTGCAAAGGCTCTTCCAGACAGAGGAGGCCTCCTTCATTGTGCTTCCCCCGAGCTAACCACACAGATTTCCTTACCACGATCCCTCCCCCTCCAGAAATGCTAGCCGAACTGAGGCAAGGAAACAATCAGAGCAGATCCCGAGAGGGTCTCGGGAGAAACAGGGTACGGCACTGTTTCTGCTGCTCCCAACATGTCCCCCAGCCAAGGAGCT
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Task1_train_3163
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Here is a genetic alteration in DNMT3A (DNA methyltransferase 3 alpha) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; not provided
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CTAACTGAAGAAAATCTCTCCAAAAAAGGACCTGAAGCCAACAAAGTGTGTGATTAGTAAAATTAAGTTAAGCAGAACCCTGAACTTGCATGCAGCCGCTGCAAGATTCCCTCTCCTGGAACAGGCTGTGGCCACAACTCCCCTTCCCAGCCCCAAAGCCATGCCCCATGGCTTTGCCTCAGGAGAATCTAAGAACCAGAGGGCTCGGGACACATCACCAATGTCAGAAAACCAACTACCTAACTCAGCAGCACAGGACTCTTCTTTGGTATAAAGAGAGTACTTTTAAAGGTCCTGCTTTAAGACCACTAGTTGTTGGTTTCAGACGAGTATTTTCTATACCCTGACTCCTCTTCCTCCTCAAGGAAAAGGAAATAAGGAACATGGCAGAGCAGCTAGTCATTCAGCAGAGGCCGGCCAGAGAGGGCCCGGCTCAGGGGCTTCCCCACTATGGGTCATCCCACCTGCAGTCCCAGCCCACAGCCCCCCAGGCCCAGGAGCTTTCACCAACCTGTTCATACCGGGAAGGTTACCCCAGAAGTAGCGGGCCCTGTGTGCAGCTGACACTTCTTTGGCATCAATCATCACAGGGTTGGACTACAAAACAGGAGACGGTTTGAAGATGAGCCAAGGAGGAGCATGAAACAGCGCCGGCATGCTGCTGGGGTCGAGCCTTAAAGCCTCAAAGCCTCTTACTTCTCTCTCAGGAGCCACACACTGGGCTAGCCTGCAGCCTCCAGGAGAAGCTGGAATTACACCTAGCCACATTCCACAAGCTGTCACTGGAACGTTCTAGATCAGCATTGTCCAAATGAACTTCTGCGATGGTGGGTTGTCCTCTACACTGTTCAATTCAGTGGCCACTAGCCCACTAGTACAGGTGGCTATTTTGTACCTAAAATGAGGCCAATGTGATTGAGGAGCTGAATGGTTAATGTTAATGTAAACAGCCGCATGTGGCTGGTGGCTACCATATTGCACAGTGCTGCTCTAGACTACCCAGAGGCTGGGAGAGCCCAGGCTCCAGCGAGTATGGGTGTGTTTACCATGAGCCCTGATTAGAACTCAAACAGACGCCTGCTCACACTTACAGTCAGAACACCAGCTCACAGTGTGACCCACCCCAAGACTCAGGAGCACAGGTGGGCTCAAGCTCCCAGAAGGGCCACTCCAAGCACGCCTCTGGCAGCAGAAGCCCTCTGCACGCGGCTCAGACTTGGCTCAGGGTTAAACGGGGACTCACATGATAAGGAATGAAAACTGAGCTAAGTCTTGTTTTCTTCTCAGGTGCCTGTCATGGTACCAGGGAGTGAGGATAGGCCCTTCTTGCTCAGGGAAAACTGATTTTGTCCTCTCAAAGATCCTGGTGTGTAACAAACACCATACAGAATACCCAACCCCAGGAGTCTGGCACCCCACCTGATTGAGTGACAGGTCCTTCAACCCCGGAGGTCCACACCCACAATGCCACCTCTTAGAGTGAGACCACTGGTTCTTTCCGAGGTAGGCCTCTAACCCTGCTTCCTCCCTTTCTATCCAGGAAGCCTGGGGCTTCCCAAACAGGCCCCTTGCAAAGCAGAAGTCACCAGTCCCCAGCTCCACAATGCAGATGAGACAGGATGAAGCAGCAGTCCAAGGTAGAAGCCATTAGTGAGCTGGCCAAACCAAGGTTGCTGGCTATACCTCGAGAAATCGCGAGATGTCCCTCTTGTCACTAACGCCCATGGCCACCACATTCTCAAAGAGCCAGAAGAAGGGGCGATCATCTCCCTCCTTGGGCCGCGCATCATGCAGGAGGCGGTAGAACTCAAAGAAGAGCCGGCCAGTGCCCTCTGAGAGGTCGGAAGAGAAAGCCATCAGCTGGGGCTGTCTGCATAGGACAGTGGTGTGGCTCGGGCACGGGGAGGGCACGGGAAGACAGGGTCATCGGGAATAGCTGTCCCAGGGCAGAAATATCCAAGGAGGAAGCCTATGTGCGGAAGCACCAGCTGAGAAGGTGGAGGGGACAGGATGGTACCTACCGTAGAGGCCCTTGCGAGCAGGGTTGACGATGGAGAGGTCATTGCAGGGACTGCCCCCAATCACCAGATCGAATGGGCCCCACTCCTGGATCTGGGAGGATAAAGGCAACGTGATGGGCCTGCTGTCCAGGGACAGAGGCAGACAGGAAGAAAGAGAAATTATCTGTGAACTTGGCAAAGAAGTCCTTTGACACGAAAGAGAGGAGACCCAGCTGCTCTGCAGGCTCACGACCCTAGCTGCAACCATGGACAAGTCCTAAACAAGAACGGGACCAAGTTGGATCATTTCTTAGGCCAATGGGGAAACTAGTATCACCCAGGCAGGCAACACAGCCACCCACTGGGAAGGTGACCCAAGTGGACGGCTGAGTCTGAAGGTACCTGGCATGCTGAGTGTCTTAGGCAGGGTGTCTGGGCCATGTGAATGTCCTCCAGTTGCCCTTCAGGACTCCAGAGGGCCTGTAGTCATGCTTAAGGGAAGACCCTGCCTGAGCCTCCCAGATATGGAAGCTGATAAAGCTATTTGCCAAAAGTATTGGGAGGACAGGAACCTCTCTCTAATCCAAAGAGCTCTACTAGAAACTGTCCAGAAACCAGCCCAGGGAGTAGCCAGAGCTCAAGTAGGCACTATGTTGCCCAAGCTAGTCTTAAACCCCTGGCCTCAAGGGATTCTCCTACCTTGGCCTCCCAAAGTGCTGGCATTATAGGCATGAGCCACCATGCCTAGCCCAAATTCCCATTTCAATTTGCCCTTTACCCTCTCAAGACAGAGGACAAATGGAAGATAAGGAGAAAAAGAGGCTGGGGCAAAGGGTGAAGAGAAAGAGGGCAAATGAACAAAATGAAAGGAGGCAAGGGCTGCCTCCAGGTGCTGAGTGTGCAGGGAGGGGAAGACGGGCTGCGCCCCACAGCATGGACATACATGCTTCTGTGTGACGCTGCGGACGTCCCCGACGTACATGATCTTCCCCTGGTGCCGCACCATGCCCACCGTGATGGAGTCCTCACACACCTCCGAGGCAATGTAGCGGTCCACCTGAATGCCCAAGTCCTTCAGCACCAGGAGCCCTGCACCAGCCAGCAGACAGCACCGTTACTTGGAGCCATCTCCCTGGCACCCTGGTCTCGGCAGGTGAGCCTGCTGGCCAACAGGACCCATGGGGTCAGCTGTAGGCCCAAGTCCTATCTTTTCCCTGAAGATGCCTTAAATCCTTTCTGGATCCAACTGGAGTATCCATAGTAAGGACATCGAGGCTCTGTCTCATGCCTCGTTTGGCCTATCTGGAAGGCAGTCAAAGCTGCAGAAAACTGACCGGAGAGTACATGGTTCCAGGATCCAGGAAGAATCACAGCTGACTTTTTGGGGGCCTTTTCTTTGTTGTTGTCCGTCTACAACTTGGTCCTTCCATACCCTCTTATCACCTCCTGCTACAATTCTACCCCACCCTTTGACTCAACCTGAATGTTCCCTGCTCCACAAAGGTTTCATAAATGCCCTGCCCCACCCAGTAGCCCCTGGAATCACCGCCCCCTCCGCTATGAGTCCCCAGCTCTGTGCATCCCTTGCCTCCCCATCAGAGCAGTTTCCATTCCTCACTCAGCCCTCTCGTGGATTGCAAAGGCTCTTCCAGACAGAGGAGGCCTCCTTCATTGTGCTTCCCCCGAGCTAACCACACAGATTTCCTTACCACGATCCCTCCCCCTCCAGAAATGCTAGCCGAACTGAGGCAAGGAAACAATCAGAGCAGATCCCGAGAGGGTCTCGGGAGAAACAGGGTACGGCACTGTTTCTGCTGCTCCCAACATGTCCCCCAGCCAAGGAGCTTTTACAGCCTCCTGGGGTGTGACATGATTTAAGAAGGCCTCAAGGTTCCAGTCTGGGATACAAAAAGCTGTAAATGAACTTCTCTAGGTTTACAGAAGAGCAGCATGGAGCTGAGAACAGAAGACAAACATCTGGCCGGGGAAGCCATCCCCTCCGCCTCACCCTCTAACCAGGGTCCCTGGGTTGAGACTGCCTATCTCCCTCTGGCCAAAGACATGAATTCTAAGAAGAGCTATTCCTTTCTTAAAAG
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CTAACTGAAGAAAATCTCTCCAAAAAAGGACCTGAAGCCAACAAAGTGTGTGATTAGTAAAATTAAGTTAAGCAGAACCCTGAACTTGCATGCAGCCGCTGCAAGATTCCCTCTCCTGGAACAGGCTGTGGCCACAACTCCCCTTCCCAGCCCCAAAGCCATGCCCCATGGCTTTGCCTCAGGAGAATCTAAGAACCAGAGGGCTCGGGACACATCACCAATGTCAGAAAACCAACTACCTAACTCAGCAGCACAGGACTCTTCTTTGGTATAAAGAGAGTACTTTTAAAGGTCCTGCTTTAAGACCACTAGTTGTTGGTTTCAGACGAGTATTTTCTATACCCTGACTCCTCTTCCTCCTCAAGGAAAAGGAAATAAGGAACATGGCAGAGCAGCTAGTCATTCAGCAGAGGCCGGCCAGAGAGGGCCCGGCTCAGGGGCTTCCCCACTATGGGTCATCCCACCTGCAGTCCCAGCCCACAGCCCCCCAGGCCCAGGAGCTTTCACCAACCTGTTCATACCGGGAAGGTTACCCCAGAAGTAGCGGGCCCTGTGTGCAGCTGACACTTCTTTGGCATCAATCATCACAGGGTTGGACTACAAAACAGGAGACGGTTTGAAGATGAGCCAAGGAGGAGCATGAAACAGCGCCGGCATGCTGCTGGGGTCGAGCCTTAAAGCCTCAAAGCCTCTTACTTCTCTCTCAGGAGCCACACACTGGGCTAGCCTGCAGCCTCCAGGAGAAGCTGGAATTACACCTAGCCACATTCCACAAGCTGTCACTGGAACGTTCTAGATCAGCATTGTCCAAATGAACTTCTGCGATGGTGGGTTGTCCTCTACACTGTTCAATTCAGTGGCCACTAGCCCACTAGTACAGGTGGCTATTTTGTACCTAAAATGAGGCCAATGTGATTGAGGAGCTGAATGGTTAATGTTAATGTAAACAGCCGCATGTGGCTGGTGGCTACCATATTGCACAGTGCTGCTCTAGACTACCCAGAGGCTGGGAGAGCCCAGGCTCCAGCGAGTATGGGTGTGTTTACCATGAGCCCTGATTAGAACTCAAACAGACGCCTGCTCACACTTACAGTCAGAACACCAGCTCACAGTGTGACCCACCCCAAGACTCAGGAGCACAGGTGGGCTCAAGCTCCCAGAAGGGCCACTCCAAGCACGCCTCTGGCAGCAGAAGCCCTCTGCACGCGGCTCAGACTTGGCTCAGGGTTAAACGGGGACTCACATGATAAGGAATGAAAACTGAGCTAAGTCTTGTTTTCTTCTCAGGTGCCTGTCATGGTACCAGGGAGTGAGGATAGGCCCTTCTTGCTCAGGGAAAACTGATTTTGTCCTCTCAAAGATCCTGGTGTGTAACAAACACCATACAGAATACCCAACCCCAGGAGTCTGGCACCCCACCTGATTGAGTGACAGGTCCTTCAACCCCGGAGGTCCACACCCACAATGCCACCTCTTAGAGTGAGACCACTGGTTCTTTCCGAGGTAGGCCTCTAACCCTGCTTCCTCCCTTTCTATCCAGGAAGCCTGGGGCTTCCCAAACAGGCCCCTTGCAAAGCAGAAGTCACCAGTCCCCAGCTCCACAATGCAGATGAGACAGGATGAAGCAGCAGTCCAAGGTAGAAGCCATTAGTGAGCTGGCCAAACCAAGGTTGCTGGCTATACCTCGAGAAATCGCGAGATGTCCCTCTTGTCACTAACGCCCATGGCCACCACATTCTCAAAGAGCCAGAAGAAGGGGCGATCATCTCCCTCCTTGGGCCGCGCATCATGCAGGAGGCGGTAGAACTCAAAGAAGAGCCGGCCAGTGCCCTCTGAGAGGTCGGAAGAGAAAGCCATCAGCTGGGGCTGTCTGCATAGGACAGTGGTGTGGCTCGGGCACGGGGAGGGCACGGGAAGACAGGGTCATCGGGAATAGCTGTCCCAGGGCAGAAATATCCAAGGAGGAAGCCTATGTGCGGAAGCACCAGCTGAGAAGGTGGAGGGGACAGGATGGTACCTACCGTAGAGGCCCTTGCGAGCAGGGTTGATGATGGAGAGGTCATTGCAGGGACTGCCCCCAATCACCAGATCGAATGGGCCCCACTCCTGGATCTGGGAGGATAAAGGCAACGTGATGGGCCTGCTGTCCAGGGACAGAGGCAGACAGGAAGAAAGAGAAATTATCTGTGAACTTGGCAAAGAAGTCCTTTGACACGAAAGAGAGGAGACCCAGCTGCTCTGCAGGCTCACGACCCTAGCTGCAACCATGGACAAGTCCTAAACAAGAACGGGACCAAGTTGGATCATTTCTTAGGCCAATGGGGAAACTAGTATCACCCAGGCAGGCAACACAGCCACCCACTGGGAAGGTGACCCAAGTGGACGGCTGAGTCTGAAGGTACCTGGCATGCTGAGTGTCTTAGGCAGGGTGTCTGGGCCATGTGAATGTCCTCCAGTTGCCCTTCAGGACTCCAGAGGGCCTGTAGTCATGCTTAAGGGAAGACCCTGCCTGAGCCTCCCAGATATGGAAGCTGATAAAGCTATTTGCCAAAAGTATTGGGAGGACAGGAACCTCTCTCTAATCCAAAGAGCTCTACTAGAAACTGTCCAGAAACCAGCCCAGGGAGTAGCCAGAGCTCAAGTAGGCACTATGTTGCCCAAGCTAGTCTTAAACCCCTGGCCTCAAGGGATTCTCCTACCTTGGCCTCCCAAAGTGCTGGCATTATAGGCATGAGCCACCATGCCTAGCCCAAATTCCCATTTCAATTTGCCCTTTACCCTCTCAAGACAGAGGACAAATGGAAGATAAGGAGAAAAAGAGGCTGGGGCAAAGGGTGAAGAGAAAGAGGGCAAATGAACAAAATGAAAGGAGGCAAGGGCTGCCTCCAGGTGCTGAGTGTGCAGGGAGGGGAAGACGGGCTGCGCCCCACAGCATGGACATACATGCTTCTGTGTGACGCTGCGGACGTCCCCGACGTACATGATCTTCCCCTGGTGCCGCACCATGCCCACCGTGATGGAGTCCTCACACACCTCCGAGGCAATGTAGCGGTCCACCTGAATGCCCAAGTCCTTCAGCACCAGGAGCCCTGCACCAGCCAGCAGACAGCACCGTTACTTGGAGCCATCTCCCTGGCACCCTGGTCTCGGCAGGTGAGCCTGCTGGCCAACAGGACCCATGGGGTCAGCTGTAGGCCCAAGTCCTATCTTTTCCCTGAAGATGCCTTAAATCCTTTCTGGATCCAACTGGAGTATCCATAGTAAGGACATCGAGGCTCTGTCTCATGCCTCGTTTGGCCTATCTGGAAGGCAGTCAAAGCTGCAGAAAACTGACCGGAGAGTACATGGTTCCAGGATCCAGGAAGAATCACAGCTGACTTTTTGGGGGCCTTTTCTTTGTTGTTGTCCGTCTACAACTTGGTCCTTCCATACCCTCTTATCACCTCCTGCTACAATTCTACCCCACCCTTTGACTCAACCTGAATGTTCCCTGCTCCACAAAGGTTTCATAAATGCCCTGCCCCACCCAGTAGCCCCTGGAATCACCGCCCCCTCCGCTATGAGTCCCCAGCTCTGTGCATCCCTTGCCTCCCCATCAGAGCAGTTTCCATTCCTCACTCAGCCCTCTCGTGGATTGCAAAGGCTCTTCCAGACAGAGGAGGCCTCCTTCATTGTGCTTCCCCCGAGCTAACCACACAGATTTCCTTACCACGATCCCTCCCCCTCCAGAAATGCTAGCCGAACTGAGGCAAGGAAACAATCAGAGCAGATCCCGAGAGGGTCTCGGGAGAAACAGGGTACGGCACTGTTTCTGCTGCTCCCAACATGTCCCCCAGCCAAGGAGCTTTTACAGCCTCCTGGGGTGTGACATGATTTAAGAAGGCCTCAAGGTTCCAGTCTGGGATACAAAAAGCTGTAAATGAACTTCTCTAGGTTTACAGAAGAGCAGCATGGAGCTGAGAACAGAAGACAAACATCTGGCCGGGGAAGCCATCCCCTCCGCCTCACCCTCTAACCAGGGTCCCTGGGTTGAGACTGCCTATCTCCCTCTGGCCAAAGACATGAATTCTAAGAAGAGCTATTCCTTTCTTAAAAG
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Task1_train_3164
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This mutation is located in gene DNMT3A (DNA methyltransferase 3 alpha) on Chromosome 2. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Tatton-Brown-Rahman overgrowth syndrome
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GGGTGTGTTTACCATGAGCCCTGATTAGAACTCAAACAGACGCCTGCTCACACTTACAGTCAGAACACCAGCTCACAGTGTGACCCACCCCAAGACTCAGGAGCACAGGTGGGCTCAAGCTCCCAGAAGGGCCACTCCAAGCACGCCTCTGGCAGCAGAAGCCCTCTGCACGCGGCTCAGACTTGGCTCAGGGTTAAACGGGGACTCACATGATAAGGAATGAAAACTGAGCTAAGTCTTGTTTTCTTCTCAGGTGCCTGTCATGGTACCAGGGAGTGAGGATAGGCCCTTCTTGCTCAGGGAAAACTGATTTTGTCCTCTCAAAGATCCTGGTGTGTAACAAACACCATACAGAATACCCAACCCCAGGAGTCTGGCACCCCACCTGATTGAGTGACAGGTCCTTCAACCCCGGAGGTCCACACCCACAATGCCACCTCTTAGAGTGAGACCACTGGTTCTTTCCGAGGTAGGCCTCTAACCCTGCTTCCTCCCTTTCTATCCAGGAAGCCTGGGGCTTCCCAAACAGGCCCCTTGCAAAGCAGAAGTCACCAGTCCCCAGCTCCACAATGCAGATGAGACAGGATGAAGCAGCAGTCCAAGGTAGAAGCCATTAGTGAGCTGGCCAAACCAAGGTTGCTGGCTATACCTCGAGAAATCGCGAGATGTCCCTCTTGTCACTAACGCCCATGGCCACCACATTCTCAAAGAGCCAGAAGAAGGGGCGATCATCTCCCTCCTTGGGCCGCGCATCATGCAGGAGGCGGTAGAACTCAAAGAAGAGCCGGCCAGTGCCCTCTGAGAGGTCGGAAGAGAAAGCCATCAGCTGGGGCTGTCTGCATAGGACAGTGGTGTGGCTCGGGCACGGGGAGGGCACGGGAAGACAGGGTCATCGGGAATAGCTGTCCCAGGGCAGAAATATCCAAGGAGGAAGCCTATGTGCGGAAGCACCAGCTGAGAAGGTGGAGGGGACAGGATGGTACCTACCGTAGAGGCCCTTGCGAGCAGGGTTGACGATGGAGAGGTCATTGCAGGGACTGCCCCCAATCACCAGATCGAATGGGCCCCACTCCTGGATCTGGGAGGATAAAGGCAACGTGATGGGCCTGCTGTCCAGGGACAGAGGCAGACAGGAAGAAAGAGAAATTATCTGTGAACTTGGCAAAGAAGTCCTTTGACACGAAAGAGAGGAGACCCAGCTGCTCTGCAGGCTCACGACCCTAGCTGCAACCATGGACAAGTCCTAAACAAGAACGGGACCAAGTTGGATCATTTCTTAGGCCAATGGGGAAACTAGTATCACCCAGGCAGGCAACACAGCCACCCACTGGGAAGGTGACCCAAGTGGACGGCTGAGTCTGAAGGTACCTGGCATGCTGAGTGTCTTAGGCAGGGTGTCTGGGCCATGTGAATGTCCTCCAGTTGCCCTTCAGGACTCCAGAGGGCCTGTAGTCATGCTTAAGGGAAGACCCTGCCTGAGCCTCCCAGATATGGAAGCTGATAAAGCTATTTGCCAAAAGTATTGGGAGGACAGGAACCTCTCTCTAATCCAAAGAGCTCTACTAGAAACTGTCCAGAAACCAGCCCAGGGAGTAGCCAGAGCTCAAGTAGGCACTATGTTGCCCAAGCTAGTCTTAAACCCCTGGCCTCAAGGGATTCTCCTACCTTGGCCTCCCAAAGTGCTGGCATTATAGGCATGAGCCACCATGCCTAGCCCAAATTCCCATTTCAATTTGCCCTTTACCCTCTCAAGACAGAGGACAAATGGAAGATAAGGAGAAAAAGAGGCTGGGGCAAAGGGTGAAGAGAAAGAGGGCAAATGAACAAAATGAAAGGAGGCAAGGGCTGCCTCCAGGTGCTGAGTGTGCAGGGAGGGGAAGACGGGCTGCGCCCCACAGCATGGACATACATGCTTCTGTGTGACGCTGCGGACGTCCCCGACGTACATGATCTTCCCCTGGTGCCGCACCATGCCCACCGTGATGGAGTCCTCACACACCTCCGAGGCAATGTAGCGGTCCACCTGAATGCCCAAGTCCTTCAGCACCAGGAGCCCTGCACCAGCCAGCAGACAGCACCGTTACTTGGAGCCATCTCCCTGGCACCCTGGTCTCGGCAGGTGAGCCTGCTGGCCAACAGGACCCATGGGGTCAGCTGTAGGCCCAAGTCCTATCTTTTCCCTGAAGATGCCTTAAATCCTTTCTGGATCCAACTGGAGTATCCATAGTAAGGACATCGAGGCTCTGTCTCATGCCTCGTTTGGCCTATCTGGAAGGCAGTCAAAGCTGCAGAAAACTGACCGGAGAGTACATGGTTCCAGGATCCAGGAAGAATCACAGCTGACTTTTTGGGGGCCTTTTCTTTGTTGTTGTCCGTCTACAACTTGGTCCTTCCATACCCTCTTATCACCTCCTGCTACAATTCTACCCCACCCTTTGACTCAACCTGAATGTTCCCTGCTCCACAAAGGTTTCATAAATGCCCTGCCCCACCCAGTAGCCCCTGGAATCACCGCCCCCTCCGCTATGAGTCCCCAGCTCTGTGCATCCCTTGCCTCCCCATCAGAGCAGTTTCCATTCCTCACTCAGCCCTCTCGTGGATTGCAAAGGCTCTTCCAGACAGAGGAGGCCTCCTTCATTGTGCTTCCCCCGAGCTAACCACACAGATTTCCTTACCACGATCCCTCCCCCTCCAGAAATGCTAGCCGAACTGAGGCAAGGAAACAATCAGAGCAGATCCCGAGAGGGTCTCGGGAGAAACAGGGTACGGCACTGTTTCTGCTGCTCCCAACATGTCCCCCAGCCAAGGAGCTTTTACAGCCTCCTGGGGTGTGACATGATTTAAGAAGGCCTCAAGGTTCCAGTCTGGGATACAAAAAGCTGTAAATGAACTTCTCTAGGTTTACAGAAGAGCAGCATGGAGCTGAGAACAGAAGACAAACATCTGGCCGGGGAAGCCATCCCCTCCGCCTCACCCTCTAACCAGGGTCCCTGGGTTGAGACTGCCTATCTCCCTCTGGCCAAAGACATGAATTCTAAGAAGAGCTATTCCTTTCTTAAAAGCCGGGAAGCCCTTGGCTGGGGGGGCAGGGCAGAGGGGTGGATGTGTCTTCACAATCTCCTAGGACGCTTTCTGCAGTGTCCAGAGTCACATGAAGCAAACAATGCCTGCAGGGTGACCCAGCATCTCCTAAAGGTTTTCCTAAGGAGGGAATGGTTCAAGTATATATTCTATCAGGATGCTTGTCACAGCACTACTTATAATAATAATAAAAAAAATAGTAAATGACCTAATAGGGGTTCGTTAAATAAATTACGGCACTTTGACTCAATGGAACCTTACGCAACACTTACAAATAAAGAATGTAGCTTTGGCCGGGTCTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACAAGGTCAAGAGATCGAGACCAGCCTGGCCAACACGGTGAAACACCGTCTCTACTAAAAACACAAAAATTAGCTGGGCGTGGTGGTGGGTGCCTGCAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGGGCCAAGATGGCACCACTGCACTCCAGCCTGGGCAACAGACTCCGTCTCAAAAAAAAAAAAAAAAATGTAGCTTTATATCGCTTGACATGAAAAAGCAATCATAATATAATAAATGCAAGGCAAGTTACAAAACCGTGTGCATTCACTACCCACTTAATTTATCTATCTATGGATGTATGGTTATATAAACACAAACGCACAGAAAAAAATCTGAAAAGGACATATGCCAAAATATTAATAAAAGGATAATGGGTGATTTAAATAAGTCTTCTTTAGACTATCTTGTGTATAATCAAAACACAACAGAACTGTGTATGTTTCTGTCTTGCTGAATCTGTCCTTTGAGGCTCTGTGAAATCTCTGTGAATCTGACTAATGATCACTCGGCCTCTGTGGCTGAATCTTCCTTACTAAGGAAGCGCCCAGCAGGCAGGCTGCTTTACCACCTGTTTTACTTTTTTATTTTTGGTCAAATCTAAGTCCACGGACTGCATACGT
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GGGTGTGTTTACCATGAGCCCTGATTAGAACTCAAACAGACGCCTGCTCACACTTACAGTCAGAACACCAGCTCACAGTGTGACCCACCCCAAGACTCAGGAGCACAGGTGGGCTCAAGCTCCCAGAAGGGCCACTCCAAGCACGCCTCTGGCAGCAGAAGCCCTCTGCACGCGGCTCAGACTTGGCTCAGGGTTAAACGGGGACTCACATGATAAGGAATGAAAACTGAGCTAAGTCTTGTTTTCTTCTCAGGTGCCTGTCATGGTACCAGGGAGTGAGGATAGGCCCTTCTTGCTCAGGGAAAACTGATTTTGTCCTCTCAAAGATCCTGGTGTGTAACAAACACCATACAGAATACCCAACCCCAGGAGTCTGGCACCCCACCTGATTGAGTGACAGGTCCTTCAACCCCGGAGGTCCACACCCACAATGCCACCTCTTAGAGTGAGACCACTGGTTCTTTCCGAGGTAGGCCTCTAACCCTGCTTCCTCCCTTTCTATCCAGGAAGCCTGGGGCTTCCCAAACAGGCCCCTTGCAAAGCAGAAGTCACCAGTCCCCAGCTCCACAATGCAGATGAGACAGGATGAAGCAGCAGTCCAAGGTAGAAGCCATTAGTGAGCTGGCCAAACCAAGGTTGCTGGCTATACCTCGAGAAATCGCGAGATGTCCCTCTTGTCACTAACGCCCATGGCCACCACATTCTCAAAGAGCCAGAAGAAGGGGCGATCATCTCCCTCCTTGGGCCGCGCATCATGCAGGAGGCGGTAGAACTCAAAGAAGAGCCGGCCAGTGCCCTCTGAGAGGTCGGAAGAGAAAGCCATCAGCTGGGGCTGTCTGCATAGGACAGTGGTGTGGCTCGGGCACGGGGAGGGCACGGGAAGACAGGGTCATCGGGAATAGCTGTCCCAGGGCAGAAATATCCAAGGAGGAAGCCTATGTGCGGAAGCACCAGCTGAGAAGGTGGAGGGGACAGGATGGTACCTACCGTAGAGGCCCTTGCGAGCAGGGTTGACGATGGAGAGGTCATTGCAGGGACTGCCCCCAATCACCAGATCGAATGGGCCCCACTCCTGGATCTGGGAGGATAAAGGCAACGTGATGGGCCTGCTGTCCAGGGACAGAGGCAGACAGGAAGAAAGAGAAATTATCTGTGAACTTGGCAAAGAAGTCCTTTGACACGAAAGAGAGGAGACCCAGCTGCTCTGCAGGCTCACGACCCTAGCTGCAACCATGGACAAGTCCTAAACAAGAACGGGACCAAGTTGGATCATTTCTTAGGCCAATGGGGAAACTAGTATCACCCAGGCAGGCAACACAGCCACCCACTGGGAAGGTGACCCAAGTGGACGGCTGAGTCTGAAGGTACCTGGCATGCTGAGTGTCTTAGGCAGGGTGTCTGGGCCATGTGAATGTCCTCCAGTTGCCCTTCAGGACTCCAGAGGGCCTGTAGTCATGCTTAAGGGAAGACCCTGCCTGAGCCTCCCAGATATGGAAGCTGATAAAGCTATTTGCCAAAAGTATTGGGAGGACAGGAACCTCTCTCTAATCCAAAGAGCTCTACTAGAAACTGTCCAGAAACCAGCCCAGGGAGTAGCCAGAGCTCAAGTAGGCACTATGTTGCCCAAGCTAGTCTTAAACCCCTGGCCTCAAGGGATTCTCCTACCTTGGCCTCCCAAAGTGCTGGCATTATAGGCATGAGCCACCATGCCTAGCCCAAATTCCCATTTCAATTTGCCCTTTACCCTCTCAAGACAGAGGACAAATGGAAGATAAGGAGAAAAAGAGGCTGGGGCAAAGGGTGAAGAGAAAGAGGGCAAATGAACAAAATGAAAGGAGGCAAGGGCTGCCTCCAGGTGCTGAGTGTGCAGGGAGGGGAAGACGGGCTGCGCCCCACAGCATGGACATACATGCTTCTGTGTGACGCTGCGGACGTCCCCGACGTACATGATCTTCCCCTGGTGCCGCACCATGCCCACCGTGATGGAGTCCTCACACACCTCCGAGGCAATGTAGCGGTCCACCTGAATGCCCAAGTCCTTCAGCACCGGGAGCCCTGCACCAGCCAGCAGACAGCACCGTTACTTGGAGCCATCTCCCTGGCACCCTGGTCTCGGCAGGTGAGCCTGCTGGCCAACAGGACCCATGGGGTCAGCTGTAGGCCCAAGTCCTATCTTTTCCCTGAAGATGCCTTAAATCCTTTCTGGATCCAACTGGAGTATCCATAGTAAGGACATCGAGGCTCTGTCTCATGCCTCGTTTGGCCTATCTGGAAGGCAGTCAAAGCTGCAGAAAACTGACCGGAGAGTACATGGTTCCAGGATCCAGGAAGAATCACAGCTGACTTTTTGGGGGCCTTTTCTTTGTTGTTGTCCGTCTACAACTTGGTCCTTCCATACCCTCTTATCACCTCCTGCTACAATTCTACCCCACCCTTTGACTCAACCTGAATGTTCCCTGCTCCACAAAGGTTTCATAAATGCCCTGCCCCACCCAGTAGCCCCTGGAATCACCGCCCCCTCCGCTATGAGTCCCCAGCTCTGTGCATCCCTTGCCTCCCCATCAGAGCAGTTTCCATTCCTCACTCAGCCCTCTCGTGGATTGCAAAGGCTCTTCCAGACAGAGGAGGCCTCCTTCATTGTGCTTCCCCCGAGCTAACCACACAGATTTCCTTACCACGATCCCTCCCCCTCCAGAAATGCTAGCCGAACTGAGGCAAGGAAACAATCAGAGCAGATCCCGAGAGGGTCTCGGGAGAAACAGGGTACGGCACTGTTTCTGCTGCTCCCAACATGTCCCCCAGCCAAGGAGCTTTTACAGCCTCCTGGGGTGTGACATGATTTAAGAAGGCCTCAAGGTTCCAGTCTGGGATACAAAAAGCTGTAAATGAACTTCTCTAGGTTTACAGAAGAGCAGCATGGAGCTGAGAACAGAAGACAAACATCTGGCCGGGGAAGCCATCCCCTCCGCCTCACCCTCTAACCAGGGTCCCTGGGTTGAGACTGCCTATCTCCCTCTGGCCAAAGACATGAATTCTAAGAAGAGCTATTCCTTTCTTAAAAGCCGGGAAGCCCTTGGCTGGGGGGGCAGGGCAGAGGGGTGGATGTGTCTTCACAATCTCCTAGGACGCTTTCTGCAGTGTCCAGAGTCACATGAAGCAAACAATGCCTGCAGGGTGACCCAGCATCTCCTAAAGGTTTTCCTAAGGAGGGAATGGTTCAAGTATATATTCTATCAGGATGCTTGTCACAGCACTACTTATAATAATAATAAAAAAAATAGTAAATGACCTAATAGGGGTTCGTTAAATAAATTACGGCACTTTGACTCAATGGAACCTTACGCAACACTTACAAATAAAGAATGTAGCTTTGGCCGGGTCTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACAAGGTCAAGAGATCGAGACCAGCCTGGCCAACACGGTGAAACACCGTCTCTACTAAAAACACAAAAATTAGCTGGGCGTGGTGGTGGGTGCCTGCAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGGGCCAAGATGGCACCACTGCACTCCAGCCTGGGCAACAGACTCCGTCTCAAAAAAAAAAAAAAAAATGTAGCTTTATATCGCTTGACATGAAAAAGCAATCATAATATAATAAATGCAAGGCAAGTTACAAAACCGTGTGCATTCACTACCCACTTAATTTATCTATCTATGGATGTATGGTTATATAAACACAAACGCACAGAAAAAAATCTGAAAAGGACATATGCCAAAATATTAATAAAAGGATAATGGGTGATTTAAATAAGTCTTCTTTAGACTATCTTGTGTATAATCAAAACACAACAGAACTGTGTATGTTTCTGTCTTGCTGAATCTGTCCTTTGAGGCTCTGTGAAATCTCTGTGAATCTGACTAATGATCACTCGGCCTCTGTGGCTGAATCTTCCTTACTAAGGAAGCGCCCAGCAGGCAGGCTGCTTTACCACCTGTTTTACTTTTTTATTTTTGGTCAAATCTAAGTCCACGGACTGCATACGT
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Task1_train_3165
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Here’s a variant in DNMT3A (DNA methyltransferase 3 alpha) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Tatton-Brown-Rahman overgrowth syndrome
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CCTTGCCTCCCCATCAGAGCAGTTTCCATTCCTCACTCAGCCCTCTCGTGGATTGCAAAGGCTCTTCCAGACAGAGGAGGCCTCCTTCATTGTGCTTCCCCCGAGCTAACCACACAGATTTCCTTACCACGATCCCTCCCCCTCCAGAAATGCTAGCCGAACTGAGGCAAGGAAACAATCAGAGCAGATCCCGAGAGGGTCTCGGGAGAAACAGGGTACGGCACTGTTTCTGCTGCTCCCAACATGTCCCCCAGCCAAGGAGCTTTTACAGCCTCCTGGGGTGTGACATGATTTAAGAAGGCCTCAAGGTTCCAGTCTGGGATACAAAAAGCTGTAAATGAACTTCTCTAGGTTTACAGAAGAGCAGCATGGAGCTGAGAACAGAAGACAAACATCTGGCCGGGGAAGCCATCCCCTCCGCCTCACCCTCTAACCAGGGTCCCTGGGTTGAGACTGCCTATCTCCCTCTGGCCAAAGACATGAATTCTAAGAAGAGCTATTCCTTTCTTAAAAGCCGGGAAGCCCTTGGCTGGGGGGGCAGGGCAGAGGGGTGGATGTGTCTTCACAATCTCCTAGGACGCTTTCTGCAGTGTCCAGAGTCACATGAAGCAAACAATGCCTGCAGGGTGACCCAGCATCTCCTAAAGGTTTTCCTAAGGAGGGAATGGTTCAAGTATATATTCTATCAGGATGCTTGTCACAGCACTACTTATAATAATAATAAAAAAAATAGTAAATGACCTAATAGGGGTTCGTTAAATAAATTACGGCACTTTGACTCAATGGAACCTTACGCAACACTTACAAATAAAGAATGTAGCTTTGGCCGGGTCTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACAAGGTCAAGAGATCGAGACCAGCCTGGCCAACACGGTGAAACACCGTCTCTACTAAAAACACAAAAATTAGCTGGGCGTGGTGGTGGGTGCCTGCAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGGGCCAAGATGGCACCACTGCACTCCAGCCTGGGCAACAGACTCCGTCTCAAAAAAAAAAAAAAAAATGTAGCTTTATATCGCTTGACATGAAAAAGCAATCATAATATAATAAATGCAAGGCAAGTTACAAAACCGTGTGCATTCACTACCCACTTAATTTATCTATCTATGGATGTATGGTTATATAAACACAAACGCACAGAAAAAAATCTGAAAAGGACATATGCCAAAATATTAATAAAAGGATAATGGGTGATTTAAATAAGTCTTCTTTAGACTATCTTGTGTATAATCAAAACACAACAGAACTGTGTATGTTTCTGTCTTGCTGAATCTGTCCTTTGAGGCTCTGTGAAATCTCTGTGAATCTGACTAATGATCACTCGGCCTCTGTGGCTGAATCTTCCTTACTAAGGAAGCGCCCAGCAGGCAGGCTGCTTTACCACCTGTTTTACTTTTTTATTTTTGGTCAAATCTAAGTCCACGGACTGCATACGTTTCCACTTCACACACAAGCTTCCCCTTTGGGATAATATTTTAACAGCTGTGAAGCTAACCATCATTTCGTTTTGCCAGAGTTGCCCACACACCTGGCTCCCCCATCCTGGGACAAGGCGGCCAGCACCTCTTGGGCCTGCACCCCTCACCTGTAGCGATTCCATCAAAGAGAGACAGCACCCGGATGGGCTTCCTCTTCTCAGCTGGGACAGGTGGGTAAACCTTTGGAGGGTCCTAAGCAGTGAGCACAACAGGTCAGATGCAGGCCCAGCGGTGTCCCAAGCTCCCACCCAGCGCTGGCCCTCCAGCCAGGCTCCTAGACCCACACACCCTGCGCACAGCTCAGGCCCCACAACCAAGGCTCAGCCAAGGGAGCTCGAGACCGCGCCCCAGGCCCAGCACTCACAAATTCCTGGTCGTGGTTATTAGCGAAGAACATCTGGAGCCGGGAGGGCCAGTCCTCTCGCCGCCGCAGCAGCCCGTAGGTACCCTTGTGCCCGCACATGTAGCAGTTCCAGGGGTCTTCCTTAATGGCTGCCTGGGCAGCCCCCGGCCCCACCAAGAGGTCCACACACTCCACGCAAAAGCACCTGGAAGGAGACCCAGTGAGCAGAGGAGACTCTCAGCCCTGGTCCGGGGAGGCCAAGGTGTGCTACCTGGAATGGAAAGACCGGGTCTGGAGCATGGCTAGGGGGTGGAGGGTCTGTGGGGAAGGGAGAGGAGGGGAGGCGGTGGGCGGCGGGAGCCTGGGGCCCAGCTAAGGAGACCACTGGAGGCCACAACAGCCTCACCTGCAGCAGTTGTTGTTTCCGCACATGAGCACCTCACGGCCCCCACAGCAGATGGTGCAGTAGGACTGGTAGCCGTCGTCGTCGTACTGGTACGCACACTCCAGAAAGCAGTTCTAGACAGCAGCGGGAAGGGTCAGAAACCACCAGGACGGGTCCCAGGACGGCCAGGACGAAGGGAGGCTCCACACCTGGCCTCACAGAGCCTAAGCCCTGAAGACATGACCCCGCCACCACCTTAGCCAGGGTCAGGCCCCAGCTGCAGATCTGGGAAGGGGAAACCTCATCTGCCTGTGCACCGCCATGGACAGAACCAAAGAGCAGCCTGAGAACAAGGCCAGGGAGGGGGCTGCACCACCACCTTGGGCCTTCCTGCAGCCCTGGGTTTTTCTCCTGGGCTCCCCAGGGCACGGCAACCCTGCTACACTCTGCCTGAGCTTGTCCCCGCTGCTCTGCTCCCATCCCCACATCTGGGGACTAAAATGGGGCTTGAGAGAGGTAAAGAATCTTTCAGAGGAGAAAAATGAGAGCAAGTCAAAAGCTTGAAACCCAAGGGCCCGTGTCATCAGGACTCTGCTTCCAGAGGAAGCTCTGAAGTCTACATCACACGCACACCGGGTGTCACCCTGTACATGCCCAGAAGCGGTGGACACAGTCAGCCAGAAGGCCGAAGGGCCGGCCTCAACGGCACCTCTCCTGGGTGGGTGTGCTCCTACCTTGCAGTTTTGGCACATTCCTCCAACGAAGAGGGGGTGTTCCAGGGTAACATTGAGGCTCCCACAGGAGATGCAGATGTCTGGAAAGCAGAGGGAGGGGATGGGGTGAGTACCACCGAAGGGCCTCTCCCTCCCCGGGCCGGAGCCCAGCACCAGACCAGCCACAAAAAAGGGGTGTGCCAGAGCGGCAGCCAGAAAAGAGTCCAGGGTGCCCCACGGAAAAGGGAGGCACTGTGACCCCAGTCTCGAACGCCATCATCTCAGAGCACCAATGCCACCATCCACAAACAGGGATGGAGTGACAGCAGGACAGAAACCTGCTCATGAGAAGCAGCCCTGGTTCCAGGTTACTCAGGAGGGATTCCCGGGGTAATCCTCAAGTCCTGACCCCTGCCCCAATCCTCCCAGGCCGAGGGTCCTGAGCCAGATCCACCAGCACCAGGCTGAGGGCGACAGCCCCAGGATGAGAGAGGTGAGCAAAGGTGAAAGGCTGAAAGGGGACCTGTAGGTGAGTTCAGTCACACCCAAGAGGGGCTGCCCTTCTGTGGCCACTGGGGAGTCCCACACCCTGAAGACCAGCCCACGCCATTGACAGGAGAGCAGAATCATGGCACCAGAAAGACAGACAGTGCACGAAGCACGGTGAAGGTGGTGTGACACGCAGGACGTGGCCCCTGGTCCCATGTCATTCAAACCTTCCTAAGTGCCTCTGCTACTCTGCCCCATGCCACACTAGGAGTGCCAGAGTTCCCAGGCAACAAACTTACCCTCAATGTTCCGGCACTTCTGCCGCACCTCGTACACCAGCCGCTCTGCAAGGGGAGGAGAGCTGGCGTCAGAGGAGGCCGCGCCTGCTCCTCGGATGCAGGCCTCCTGGTGCCACCCTCTCCAGAAGCAGGCCAACTACCTCTTGTGCGCTCATCAATAATCTCCTTGACCTTGGGCTTCTCCGCTGTGCTCTTCCGGGGCTTTTTGGCTGGTGGAGGTGGTGCGTAGGCAGCTGCCTCAGGTTCCACCCACATGTCCGTGTACACTTCTTTGTAG
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CCTTGCCTCCCCATCAGAGCAGTTTCCATTCCTCACTCAGCCCTCTCGTGGATTGCAAAGGCTCTTCCAGACAGAGGAGGCCTCCTTCATTGTGCTTCCCCCGAGCTAACCACACAGATTTCCTTACCACGATCCCTCCCCCTCCAGAAATGCTAGCCGAACTGAGGCAAGGAAACAATCAGAGCAGATCCCGAGAGGGTCTCGGGAGAAACAGGGTACGGCACTGTTTCTGCTGCTCCCAACATGTCCCCCAGCCAAGGAGCTTTTACAGCCTCCTGGGGTGTGACATGATTTAAGAAGGCCTCAAGGTTCCAGTCTGGGATACAAAAAGCTGTAAATGAACTTCTCTAGGTTTACAGAAGAGCAGCATGGAGCTGAGAACAGAAGACAAACATCTGGCCGGGGAAGCCATCCCCTCCGCCTCACCCTCTAACCAGGGTCCCTGGGTTGAGACTGCCTATCTCCCTCTGGCCAAAGACATGAATTCTAAGAAGAGCTATTCCTTTCTTAAAAGCCGGGAAGCCCTTGGCTGGGGGGGCAGGGCAGAGGGGTGGATGTGTCTTCACAATCTCCTAGGACGCTTTCTGCAGTGTCCAGAGTCACATGAAGCAAACAATGCCTGCAGGGTGACCCAGCATCTCCTAAAGGTTTTCCTAAGGAGGGAATGGTTCAAGTATATATTCTATCAGGATGCTTGTCACAGCACTACTTATAATAATAATAAAAAAAATAGTAAATGACCTAATAGGGGTTCGTTAAATAAATTACGGCACTTTGACTCAATGGAACCTTACGCAACACTTACAAATAAAGAATGTAGCTTTGGCCGGGTCTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACAAGGTCAAGAGATCGAGACCAGCCTGGCCAACACGGTGAAACACCGTCTCTACTAAAAACACAAAAATTAGCTGGGCGTGGTGGTGGGTGCCTGCAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGGGCCAAGATGGCACCACTGCACTCCAGCCTGGGCAACAGACTCCGTCTCAAAAAAAAAAAAAAAAATGTAGCTTTATATCGCTTGACATGAAAAAGCAATCATAATATAATAAATGCAAGGCAAGTTACAAAACCGTGTGCATTCACTACCCACTTAATTTATCTATCTATGGATGTATGGTTATATAAACACAAACGCACAGAAAAAAATCTGAAAAGGACATATGCCAAAATATTAATAAAAGGATAATGGGTGATTTAAATAAGTCTTCTTTAGACTATCTTGTGTATAATCAAAACACAACAGAACTGTGTATGTTTCTGTCTTGCTGAATCTGTCCTTTGAGGCTCTGTGAAATCTCTGTGAATCTGACTAATGATCACTCGGCCTCTGTGGCTGAATCTTCCTTACTAAGGAAGCGCCCAGCAGGCAGGCTGCTTTACCACCTGTTTTACTTTTTTATTTTTGGTCAAATCTAAGTCCACGGACTGCATACGTTTCCACTTCACACACAAGCTTCCCCTTTGGGATAATATTTTAACAGCTGTGAAGCTAACCATCATTTCGTTTTGCCAGAGTTGCCCACACACCTGGCTCCCCCATCCTGGGACAAGGCGGCCAGCACCTCTTGGGCCTGCACCCCTCACCTGTAGCGATTCCATCAAAGAGAGACAGCACCCGGATGGGCTTCCTCTTCTCAGCTGGGACAGGTGGGTAAACCTTTGGAGGGTCCTAAGCAGTGAGCACAACAGGTCAGATGCAGGCCCAGCGGTGTCCCAAGCTCCCACCCAGCGCTGGCCCTCCAGCCAGGCTCCTAGACCCACACACCCTGCGCACAGCTCAGGCCCCACAACCAAGGCTCAGCCAAGGGAGCTCGAGACCGCGCCCCAGGCCCAGCACTCACAAATTCCTGGTCGTGGTTATTAGCGAAGAACATCTGGAGCCGGGAGGGCCAGTCCTCTCGCCGCCGCAGCAGCCCGTAGGTACCCTTGTGCCCGAACATGTAGCAGTTCCAGGGGTCTTCCTTAATGGCTGCCTGGGCAGCCCCCGGCCCCACCAAGAGGTCCACACACTCCACGCAAAAGCACCTGGAAGGAGACCCAGTGAGCAGAGGAGACTCTCAGCCCTGGTCCGGGGAGGCCAAGGTGTGCTACCTGGAATGGAAAGACCGGGTCTGGAGCATGGCTAGGGGGTGGAGGGTCTGTGGGGAAGGGAGAGGAGGGGAGGCGGTGGGCGGCGGGAGCCTGGGGCCCAGCTAAGGAGACCACTGGAGGCCACAACAGCCTCACCTGCAGCAGTTGTTGTTTCCGCACATGAGCACCTCACGGCCCCCACAGCAGATGGTGCAGTAGGACTGGTAGCCGTCGTCGTCGTACTGGTACGCACACTCCAGAAAGCAGTTCTAGACAGCAGCGGGAAGGGTCAGAAACCACCAGGACGGGTCCCAGGACGGCCAGGACGAAGGGAGGCTCCACACCTGGCCTCACAGAGCCTAAGCCCTGAAGACATGACCCCGCCACCACCTTAGCCAGGGTCAGGCCCCAGCTGCAGATCTGGGAAGGGGAAACCTCATCTGCCTGTGCACCGCCATGGACAGAACCAAAGAGCAGCCTGAGAACAAGGCCAGGGAGGGGGCTGCACCACCACCTTGGGCCTTCCTGCAGCCCTGGGTTTTTCTCCTGGGCTCCCCAGGGCACGGCAACCCTGCTACACTCTGCCTGAGCTTGTCCCCGCTGCTCTGCTCCCATCCCCACATCTGGGGACTAAAATGGGGCTTGAGAGAGGTAAAGAATCTTTCAGAGGAGAAAAATGAGAGCAAGTCAAAAGCTTGAAACCCAAGGGCCCGTGTCATCAGGACTCTGCTTCCAGAGGAAGCTCTGAAGTCTACATCACACGCACACCGGGTGTCACCCTGTACATGCCCAGAAGCGGTGGACACAGTCAGCCAGAAGGCCGAAGGGCCGGCCTCAACGGCACCTCTCCTGGGTGGGTGTGCTCCTACCTTGCAGTTTTGGCACATTCCTCCAACGAAGAGGGGGTGTTCCAGGGTAACATTGAGGCTCCCACAGGAGATGCAGATGTCTGGAAAGCAGAGGGAGGGGATGGGGTGAGTACCACCGAAGGGCCTCTCCCTCCCCGGGCCGGAGCCCAGCACCAGACCAGCCACAAAAAAGGGGTGTGCCAGAGCGGCAGCCAGAAAAGAGTCCAGGGTGCCCCACGGAAAAGGGAGGCACTGTGACCCCAGTCTCGAACGCCATCATCTCAGAGCACCAATGCCACCATCCACAAACAGGGATGGAGTGACAGCAGGACAGAAACCTGCTCATGAGAAGCAGCCCTGGTTCCAGGTTACTCAGGAGGGATTCCCGGGGTAATCCTCAAGTCCTGACCCCTGCCCCAATCCTCCCAGGCCGAGGGTCCTGAGCCAGATCCACCAGCACCAGGCTGAGGGCGACAGCCCCAGGATGAGAGAGGTGAGCAAAGGTGAAAGGCTGAAAGGGGACCTGTAGGTGAGTTCAGTCACACCCAAGAGGGGCTGCCCTTCTGTGGCCACTGGGGAGTCCCACACCCTGAAGACCAGCCCACGCCATTGACAGGAGAGCAGAATCATGGCACCAGAAAGACAGACAGTGCACGAAGCACGGTGAAGGTGGTGTGACACGCAGGACGTGGCCCCTGGTCCCATGTCATTCAAACCTTCCTAAGTGCCTCTGCTACTCTGCCCCATGCCACACTAGGAGTGCCAGAGTTCCCAGGCAACAAACTTACCCTCAATGTTCCGGCACTTCTGCCGCACCTCGTACACCAGCCGCTCTGCAAGGGGAGGAGAGCTGGCGTCAGAGGAGGCCGCGCCTGCTCCTCGGATGCAGGCCTCCTGGTGCCACCCTCTCCAGAAGCAGGCCAACTACCTCTTGTGCGCTCATCAATAATCTCCTTGACCTTGGGCTTCTCCGCTGTGCTCTTCCGGGGCTTTTTGGCTGGTGGAGGTGGTGCGTAGGCAGCTGCCTCAGGTTCCACCCACATGTCCGTGTACACTTCTTTGTAG
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Task1_train_3166
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Mutation context: Chromosome 2, Gene DNMT3A (DNA methyltransferase 3 alpha). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; not provided
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CCCATCAGAGCAGTTTCCATTCCTCACTCAGCCCTCTCGTGGATTGCAAAGGCTCTTCCAGACAGAGGAGGCCTCCTTCATTGTGCTTCCCCCGAGCTAACCACACAGATTTCCTTACCACGATCCCTCCCCCTCCAGAAATGCTAGCCGAACTGAGGCAAGGAAACAATCAGAGCAGATCCCGAGAGGGTCTCGGGAGAAACAGGGTACGGCACTGTTTCTGCTGCTCCCAACATGTCCCCCAGCCAAGGAGCTTTTACAGCCTCCTGGGGTGTGACATGATTTAAGAAGGCCTCAAGGTTCCAGTCTGGGATACAAAAAGCTGTAAATGAACTTCTCTAGGTTTACAGAAGAGCAGCATGGAGCTGAGAACAGAAGACAAACATCTGGCCGGGGAAGCCATCCCCTCCGCCTCACCCTCTAACCAGGGTCCCTGGGTTGAGACTGCCTATCTCCCTCTGGCCAAAGACATGAATTCTAAGAAGAGCTATTCCTTTCTTAAAAGCCGGGAAGCCCTTGGCTGGGGGGGCAGGGCAGAGGGGTGGATGTGTCTTCACAATCTCCTAGGACGCTTTCTGCAGTGTCCAGAGTCACATGAAGCAAACAATGCCTGCAGGGTGACCCAGCATCTCCTAAAGGTTTTCCTAAGGAGGGAATGGTTCAAGTATATATTCTATCAGGATGCTTGTCACAGCACTACTTATAATAATAATAAAAAAAATAGTAAATGACCTAATAGGGGTTCGTTAAATAAATTACGGCACTTTGACTCAATGGAACCTTACGCAACACTTACAAATAAAGAATGTAGCTTTGGCCGGGTCTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACAAGGTCAAGAGATCGAGACCAGCCTGGCCAACACGGTGAAACACCGTCTCTACTAAAAACACAAAAATTAGCTGGGCGTGGTGGTGGGTGCCTGCAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGGGCCAAGATGGCACCACTGCACTCCAGCCTGGGCAACAGACTCCGTCTCAAAAAAAAAAAAAAAAATGTAGCTTTATATCGCTTGACATGAAAAAGCAATCATAATATAATAAATGCAAGGCAAGTTACAAAACCGTGTGCATTCACTACCCACTTAATTTATCTATCTATGGATGTATGGTTATATAAACACAAACGCACAGAAAAAAATCTGAAAAGGACATATGCCAAAATATTAATAAAAGGATAATGGGTGATTTAAATAAGTCTTCTTTAGACTATCTTGTGTATAATCAAAACACAACAGAACTGTGTATGTTTCTGTCTTGCTGAATCTGTCCTTTGAGGCTCTGTGAAATCTCTGTGAATCTGACTAATGATCACTCGGCCTCTGTGGCTGAATCTTCCTTACTAAGGAAGCGCCCAGCAGGCAGGCTGCTTTACCACCTGTTTTACTTTTTTATTTTTGGTCAAATCTAAGTCCACGGACTGCATACGTTTCCACTTCACACACAAGCTTCCCCTTTGGGATAATATTTTAACAGCTGTGAAGCTAACCATCATTTCGTTTTGCCAGAGTTGCCCACACACCTGGCTCCCCCATCCTGGGACAAGGCGGCCAGCACCTCTTGGGCCTGCACCCCTCACCTGTAGCGATTCCATCAAAGAGAGACAGCACCCGGATGGGCTTCCTCTTCTCAGCTGGGACAGGTGGGTAAACCTTTGGAGGGTCCTAAGCAGTGAGCACAACAGGTCAGATGCAGGCCCAGCGGTGTCCCAAGCTCCCACCCAGCGCTGGCCCTCCAGCCAGGCTCCTAGACCCACACACCCTGCGCACAGCTCAGGCCCCACAACCAAGGCTCAGCCAAGGGAGCTCGAGACCGCGCCCCAGGCCCAGCACTCACAAATTCCTGGTCGTGGTTATTAGCGAAGAACATCTGGAGCCGGGAGGGCCAGTCCTCTCGCCGCCGCAGCAGCCCGTAGGTACCCTTGTGCCCGCACATGTAGCAGTTCCAGGGGTCTTCCTTAATGGCTGCCTGGGCAGCCCCCGGCCCCACCAAGAGGTCCACACACTCCACGCAAAAGCACCTGGAAGGAGACCCAGTGAGCAGAGGAGACTCTCAGCCCTGGTCCGGGGAGGCCAAGGTGTGCTACCTGGAATGGAAAGACCGGGTCTGGAGCATGGCTAGGGGGTGGAGGGTCTGTGGGGAAGGGAGAGGAGGGGAGGCGGTGGGCGGCGGGAGCCTGGGGCCCAGCTAAGGAGACCACTGGAGGCCACAACAGCCTCACCTGCAGCAGTTGTTGTTTCCGCACATGAGCACCTCACGGCCCCCACAGCAGATGGTGCAGTAGGACTGGTAGCCGTCGTCGTCGTACTGGTACGCACACTCCAGAAAGCAGTTCTAGACAGCAGCGGGAAGGGTCAGAAACCACCAGGACGGGTCCCAGGACGGCCAGGACGAAGGGAGGCTCCACACCTGGCCTCACAGAGCCTAAGCCCTGAAGACATGACCCCGCCACCACCTTAGCCAGGGTCAGGCCCCAGCTGCAGATCTGGGAAGGGGAAACCTCATCTGCCTGTGCACCGCCATGGACAGAACCAAAGAGCAGCCTGAGAACAAGGCCAGGGAGGGGGCTGCACCACCACCTTGGGCCTTCCTGCAGCCCTGGGTTTTTCTCCTGGGCTCCCCAGGGCACGGCAACCCTGCTACACTCTGCCTGAGCTTGTCCCCGCTGCTCTGCTCCCATCCCCACATCTGGGGACTAAAATGGGGCTTGAGAGAGGTAAAGAATCTTTCAGAGGAGAAAAATGAGAGCAAGTCAAAAGCTTGAAACCCAAGGGCCCGTGTCATCAGGACTCTGCTTCCAGAGGAAGCTCTGAAGTCTACATCACACGCACACCGGGTGTCACCCTGTACATGCCCAGAAGCGGTGGACACAGTCAGCCAGAAGGCCGAAGGGCCGGCCTCAACGGCACCTCTCCTGGGTGGGTGTGCTCCTACCTTGCAGTTTTGGCACATTCCTCCAACGAAGAGGGGGTGTTCCAGGGTAACATTGAGGCTCCCACAGGAGATGCAGATGTCTGGAAAGCAGAGGGAGGGGATGGGGTGAGTACCACCGAAGGGCCTCTCCCTCCCCGGGCCGGAGCCCAGCACCAGACCAGCCACAAAAAAGGGGTGTGCCAGAGCGGCAGCCAGAAAAGAGTCCAGGGTGCCCCACGGAAAAGGGAGGCACTGTGACCCCAGTCTCGAACGCCATCATCTCAGAGCACCAATGCCACCATCCACAAACAGGGATGGAGTGACAGCAGGACAGAAACCTGCTCATGAGAAGCAGCCCTGGTTCCAGGTTACTCAGGAGGGATTCCCGGGGTAATCCTCAAGTCCTGACCCCTGCCCCAATCCTCCCAGGCCGAGGGTCCTGAGCCAGATCCACCAGCACCAGGCTGAGGGCGACAGCCCCAGGATGAGAGAGGTGAGCAAAGGTGAAAGGCTGAAAGGGGACCTGTAGGTGAGTTCAGTCACACCCAAGAGGGGCTGCCCTTCTGTGGCCACTGGGGAGTCCCACACCCTGAAGACCAGCCCACGCCATTGACAGGAGAGCAGAATCATGGCACCAGAAAGACAGACAGTGCACGAAGCACGGTGAAGGTGGTGTGACACGCAGGACGTGGCCCCTGGTCCCATGTCATTCAAACCTTCCTAAGTGCCTCTGCTACTCTGCCCCATGCCACACTAGGAGTGCCAGAGTTCCCAGGCAACAAACTTACCCTCAATGTTCCGGCACTTCTGCCGCACCTCGTACACCAGCCGCTCTGCAAGGGGAGGAGAGCTGGCGTCAGAGGAGGCCGCGCCTGCTCCTCGGATGCAGGCCTCCTGGTGCCACCCTCTCCAGAAGCAGGCCAACTACCTCTTGTGCGCTCATCAATAATCTCCTTGACCTTGGGCTTCTCCGCTGTGCTCTTCCGGGGCTTTTTGGCTGGTGGAGGTGGTGCGTAGGCAGCTGCCTCAGGTTCCACCCACATGTCCGTGTACACTTCTTTGTAGGGATTCTTC
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CCCATCAGAGCAGTTTCCATTCCTCACTCAGCCCTCTCGTGGATTGCAAAGGCTCTTCCAGACAGAGGAGGCCTCCTTCATTGTGCTTCCCCCGAGCTAACCACACAGATTTCCTTACCACGATCCCTCCCCCTCCAGAAATGCTAGCCGAACTGAGGCAAGGAAACAATCAGAGCAGATCCCGAGAGGGTCTCGGGAGAAACAGGGTACGGCACTGTTTCTGCTGCTCCCAACATGTCCCCCAGCCAAGGAGCTTTTACAGCCTCCTGGGGTGTGACATGATTTAAGAAGGCCTCAAGGTTCCAGTCTGGGATACAAAAAGCTGTAAATGAACTTCTCTAGGTTTACAGAAGAGCAGCATGGAGCTGAGAACAGAAGACAAACATCTGGCCGGGGAAGCCATCCCCTCCGCCTCACCCTCTAACCAGGGTCCCTGGGTTGAGACTGCCTATCTCCCTCTGGCCAAAGACATGAATTCTAAGAAGAGCTATTCCTTTCTTAAAAGCCGGGAAGCCCTTGGCTGGGGGGGCAGGGCAGAGGGGTGGATGTGTCTTCACAATCTCCTAGGACGCTTTCTGCAGTGTCCAGAGTCACATGAAGCAAACAATGCCTGCAGGGTGACCCAGCATCTCCTAAAGGTTTTCCTAAGGAGGGAATGGTTCAAGTATATATTCTATCAGGATGCTTGTCACAGCACTACTTATAATAATAATAAAAAAAATAGTAAATGACCTAATAGGGGTTCGTTAAATAAATTACGGCACTTTGACTCAATGGAACCTTACGCAACACTTACAAATAAAGAATGTAGCTTTGGCCGGGTCTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACAAGGTCAAGAGATCGAGACCAGCCTGGCCAACACGGTGAAACACCGTCTCTACTAAAAACACAAAAATTAGCTGGGCGTGGTGGTGGGTGCCTGCAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGGGCCAAGATGGCACCACTGCACTCCAGCCTGGGCAACAGACTCCGTCTCAAAAAAAAAAAAAAAAATGTAGCTTTATATCGCTTGACATGAAAAAGCAATCATAATATAATAAATGCAAGGCAAGTTACAAAACCGTGTGCATTCACTACCCACTTAATTTATCTATCTATGGATGTATGGTTATATAAACACAAACGCACAGAAAAAAATCTGAAAAGGACATATGCCAAAATATTAATAAAAGGATAATGGGTGATTTAAATAAGTCTTCTTTAGACTATCTTGTGTATAATCAAAACACAACAGAACTGTGTATGTTTCTGTCTTGCTGAATCTGTCCTTTGAGGCTCTGTGAAATCTCTGTGAATCTGACTAATGATCACTCGGCCTCTGTGGCTGAATCTTCCTTACTAAGGAAGCGCCCAGCAGGCAGGCTGCTTTACCACCTGTTTTACTTTTTTATTTTTGGTCAAATCTAAGTCCACGGACTGCATACGTTTCCACTTCACACACAAGCTTCCCCTTTGGGATAATATTTTAACAGCTGTGAAGCTAACCATCATTTCGTTTTGCCAGAGTTGCCCACACACCTGGCTCCCCCATCCTGGGACAAGGCGGCCAGCACCTCTTGGGCCTGCACCCCTCACCTGTAGCGATTCCATCAAAGAGAGACAGCACCCGGATGGGCTTCCTCTTCTCAGCTGGGACAGGTGGGTAAACCTTTGGAGGGTCCTAAGCAGTGAGCACAACAGGTCAGATGCAGGCCCAGCGGTGTCCCAAGCTCCCACCCAGCGCTGGCCCTCCAGCCAGGCTCCTAGACCCACACACCCTGCGCACAGCTCAGGCCCCACAACCAAGGCTCAGCCAAGGGAGCTCGAGACCGCGCCCCAGGCCCAGCACTCACAAATTCCTGGTCGTGGTTATTAGCGAAGAACATCTGGAGCCGGGAGGGCCAGTCCTCTCGCCGCCGCAGCAGCCCGTAGGTACCCTTGTGCCCGCACATGTAGTAGTTCCAGGGGTCTTCCTTAATGGCTGCCTGGGCAGCCCCCGGCCCCACCAAGAGGTCCACACACTCCACGCAAAAGCACCTGGAAGGAGACCCAGTGAGCAGAGGAGACTCTCAGCCCTGGTCCGGGGAGGCCAAGGTGTGCTACCTGGAATGGAAAGACCGGGTCTGGAGCATGGCTAGGGGGTGGAGGGTCTGTGGGGAAGGGAGAGGAGGGGAGGCGGTGGGCGGCGGGAGCCTGGGGCCCAGCTAAGGAGACCACTGGAGGCCACAACAGCCTCACCTGCAGCAGTTGTTGTTTCCGCACATGAGCACCTCACGGCCCCCACAGCAGATGGTGCAGTAGGACTGGTAGCCGTCGTCGTCGTACTGGTACGCACACTCCAGAAAGCAGTTCTAGACAGCAGCGGGAAGGGTCAGAAACCACCAGGACGGGTCCCAGGACGGCCAGGACGAAGGGAGGCTCCACACCTGGCCTCACAGAGCCTAAGCCCTGAAGACATGACCCCGCCACCACCTTAGCCAGGGTCAGGCCCCAGCTGCAGATCTGGGAAGGGGAAACCTCATCTGCCTGTGCACCGCCATGGACAGAACCAAAGAGCAGCCTGAGAACAAGGCCAGGGAGGGGGCTGCACCACCACCTTGGGCCTTCCTGCAGCCCTGGGTTTTTCTCCTGGGCTCCCCAGGGCACGGCAACCCTGCTACACTCTGCCTGAGCTTGTCCCCGCTGCTCTGCTCCCATCCCCACATCTGGGGACTAAAATGGGGCTTGAGAGAGGTAAAGAATCTTTCAGAGGAGAAAAATGAGAGCAAGTCAAAAGCTTGAAACCCAAGGGCCCGTGTCATCAGGACTCTGCTTCCAGAGGAAGCTCTGAAGTCTACATCACACGCACACCGGGTGTCACCCTGTACATGCCCAGAAGCGGTGGACACAGTCAGCCAGAAGGCCGAAGGGCCGGCCTCAACGGCACCTCTCCTGGGTGGGTGTGCTCCTACCTTGCAGTTTTGGCACATTCCTCCAACGAAGAGGGGGTGTTCCAGGGTAACATTGAGGCTCCCACAGGAGATGCAGATGTCTGGAAAGCAGAGGGAGGGGATGGGGTGAGTACCACCGAAGGGCCTCTCCCTCCCCGGGCCGGAGCCCAGCACCAGACCAGCCACAAAAAAGGGGTGTGCCAGAGCGGCAGCCAGAAAAGAGTCCAGGGTGCCCCACGGAAAAGGGAGGCACTGTGACCCCAGTCTCGAACGCCATCATCTCAGAGCACCAATGCCACCATCCACAAACAGGGATGGAGTGACAGCAGGACAGAAACCTGCTCATGAGAAGCAGCCCTGGTTCCAGGTTACTCAGGAGGGATTCCCGGGGTAATCCTCAAGTCCTGACCCCTGCCCCAATCCTCCCAGGCCGAGGGTCCTGAGCCAGATCCACCAGCACCAGGCTGAGGGCGACAGCCCCAGGATGAGAGAGGTGAGCAAAGGTGAAAGGCTGAAAGGGGACCTGTAGGTGAGTTCAGTCACACCCAAGAGGGGCTGCCCTTCTGTGGCCACTGGGGAGTCCCACACCCTGAAGACCAGCCCACGCCATTGACAGGAGAGCAGAATCATGGCACCAGAAAGACAGACAGTGCACGAAGCACGGTGAAGGTGGTGTGACACGCAGGACGTGGCCCCTGGTCCCATGTCATTCAAACCTTCCTAAGTGCCTCTGCTACTCTGCCCCATGCCACACTAGGAGTGCCAGAGTTCCCAGGCAACAAACTTACCCTCAATGTTCCGGCACTTCTGCCGCACCTCGTACACCAGCCGCTCTGCAAGGGGAGGAGAGCTGGCGTCAGAGGAGGCCGCGCCTGCTCCTCGGATGCAGGCCTCCTGGTGCCACCCTCTCCAGAAGCAGGCCAACTACCTCTTGTGCGCTCATCAATAATCTCCTTGACCTTGGGCTTCTCCGCTGTGCTCTTCCGGGGCTTTTTGGCTGGTGGAGGTGGTGCGTAGGCAGCTGCCTCAGGTTCCACCCACATGTCCGTGTACACTTCTTTGTAGGGATTCTTC
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Task1_train_3167
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Here is a variant affecting DNMT3A (DNA methyltransferase 3 alpha) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Tatton-Brown-Rahman overgrowth syndrome
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TCTGGGATACAAAAAGCTGTAAATGAACTTCTCTAGGTTTACAGAAGAGCAGCATGGAGCTGAGAACAGAAGACAAACATCTGGCCGGGGAAGCCATCCCCTCCGCCTCACCCTCTAACCAGGGTCCCTGGGTTGAGACTGCCTATCTCCCTCTGGCCAAAGACATGAATTCTAAGAAGAGCTATTCCTTTCTTAAAAGCCGGGAAGCCCTTGGCTGGGGGGGCAGGGCAGAGGGGTGGATGTGTCTTCACAATCTCCTAGGACGCTTTCTGCAGTGTCCAGAGTCACATGAAGCAAACAATGCCTGCAGGGTGACCCAGCATCTCCTAAAGGTTTTCCTAAGGAGGGAATGGTTCAAGTATATATTCTATCAGGATGCTTGTCACAGCACTACTTATAATAATAATAAAAAAAATAGTAAATGACCTAATAGGGGTTCGTTAAATAAATTACGGCACTTTGACTCAATGGAACCTTACGCAACACTTACAAATAAAGAATGTAGCTTTGGCCGGGTCTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACAAGGTCAAGAGATCGAGACCAGCCTGGCCAACACGGTGAAACACCGTCTCTACTAAAAACACAAAAATTAGCTGGGCGTGGTGGTGGGTGCCTGCAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGGGCCAAGATGGCACCACTGCACTCCAGCCTGGGCAACAGACTCCGTCTCAAAAAAAAAAAAAAAAATGTAGCTTTATATCGCTTGACATGAAAAAGCAATCATAATATAATAAATGCAAGGCAAGTTACAAAACCGTGTGCATTCACTACCCACTTAATTTATCTATCTATGGATGTATGGTTATATAAACACAAACGCACAGAAAAAAATCTGAAAAGGACATATGCCAAAATATTAATAAAAGGATAATGGGTGATTTAAATAAGTCTTCTTTAGACTATCTTGTGTATAATCAAAACACAACAGAACTGTGTATGTTTCTGTCTTGCTGAATCTGTCCTTTGAGGCTCTGTGAAATCTCTGTGAATCTGACTAATGATCACTCGGCCTCTGTGGCTGAATCTTCCTTACTAAGGAAGCGCCCAGCAGGCAGGCTGCTTTACCACCTGTTTTACTTTTTTATTTTTGGTCAAATCTAAGTCCACGGACTGCATACGTTTCCACTTCACACACAAGCTTCCCCTTTGGGATAATATTTTAACAGCTGTGAAGCTAACCATCATTTCGTTTTGCCAGAGTTGCCCACACACCTGGCTCCCCCATCCTGGGACAAGGCGGCCAGCACCTCTTGGGCCTGCACCCCTCACCTGTAGCGATTCCATCAAAGAGAGACAGCACCCGGATGGGCTTCCTCTTCTCAGCTGGGACAGGTGGGTAAACCTTTGGAGGGTCCTAAGCAGTGAGCACAACAGGTCAGATGCAGGCCCAGCGGTGTCCCAAGCTCCCACCCAGCGCTGGCCCTCCAGCCAGGCTCCTAGACCCACACACCCTGCGCACAGCTCAGGCCCCACAACCAAGGCTCAGCCAAGGGAGCTCGAGACCGCGCCCCAGGCCCAGCACTCACAAATTCCTGGTCGTGGTTATTAGCGAAGAACATCTGGAGCCGGGAGGGCCAGTCCTCTCGCCGCCGCAGCAGCCCGTAGGTACCCTTGTGCCCGCACATGTAGCAGTTCCAGGGGTCTTCCTTAATGGCTGCCTGGGCAGCCCCCGGCCCCACCAAGAGGTCCACACACTCCACGCAAAAGCACCTGGAAGGAGACCCAGTGAGCAGAGGAGACTCTCAGCCCTGGTCCGGGGAGGCCAAGGTGTGCTACCTGGAATGGAAAGACCGGGTCTGGAGCATGGCTAGGGGGTGGAGGGTCTGTGGGGAAGGGAGAGGAGGGGAGGCGGTGGGCGGCGGGAGCCTGGGGCCCAGCTAAGGAGACCACTGGAGGCCACAACAGCCTCACCTGCAGCAGTTGTTGTTTCCGCACATGAGCACCTCACGGCCCCCACAGCAGATGGTGCAGTAGGACTGGTAGCCGTCGTCGTCGTACTGGTACGCACACTCCAGAAAGCAGTTCTAGACAGCAGCGGGAAGGGTCAGAAACCACCAGGACGGGTCCCAGGACGGCCAGGACGAAGGGAGGCTCCACACCTGGCCTCACAGAGCCTAAGCCCTGAAGACATGACCCCGCCACCACCTTAGCCAGGGTCAGGCCCCAGCTGCAGATCTGGGAAGGGGAAACCTCATCTGCCTGTGCACCGCCATGGACAGAACCAAAGAGCAGCCTGAGAACAAGGCCAGGGAGGGGGCTGCACCACCACCTTGGGCCTTCCTGCAGCCCTGGGTTTTTCTCCTGGGCTCCCCAGGGCACGGCAACCCTGCTACACTCTGCCTGAGCTTGTCCCCGCTGCTCTGCTCCCATCCCCACATCTGGGGACTAAAATGGGGCTTGAGAGAGGTAAAGAATCTTTCAGAGGAGAAAAATGAGAGCAAGTCAAAAGCTTGAAACCCAAGGGCCCGTGTCATCAGGACTCTGCTTCCAGAGGAAGCTCTGAAGTCTACATCACACGCACACCGGGTGTCACCCTGTACATGCCCAGAAGCGGTGGACACAGTCAGCCAGAAGGCCGAAGGGCCGGCCTCAACGGCACCTCTCCTGGGTGGGTGTGCTCCTACCTTGCAGTTTTGGCACATTCCTCCAACGAAGAGGGGGTGTTCCAGGGTAACATTGAGGCTCCCACAGGAGATGCAGATGTCTGGAAAGCAGAGGGAGGGGATGGGGTGAGTACCACCGAAGGGCCTCTCCCTCCCCGGGCCGGAGCCCAGCACCAGACCAGCCACAAAAAAGGGGTGTGCCAGAGCGGCAGCCAGAAAAGAGTCCAGGGTGCCCCACGGAAAAGGGAGGCACTGTGACCCCAGTCTCGAACGCCATCATCTCAGAGCACCAATGCCACCATCCACAAACAGGGATGGAGTGACAGCAGGACAGAAACCTGCTCATGAGAAGCAGCCCTGGTTCCAGGTTACTCAGGAGGGATTCCCGGGGTAATCCTCAAGTCCTGACCCCTGCCCCAATCCTCCCAGGCCGAGGGTCCTGAGCCAGATCCACCAGCACCAGGCTGAGGGCGACAGCCCCAGGATGAGAGAGGTGAGCAAAGGTGAAAGGCTGAAAGGGGACCTGTAGGTGAGTTCAGTCACACCCAAGAGGGGCTGCCCTTCTGTGGCCACTGGGGAGTCCCACACCCTGAAGACCAGCCCACGCCATTGACAGGAGAGCAGAATCATGGCACCAGAAAGACAGACAGTGCACGAAGCACGGTGAAGGTGGTGTGACACGCAGGACGTGGCCCCTGGTCCCATGTCATTCAAACCTTCCTAAGTGCCTCTGCTACTCTGCCCCATGCCACACTAGGAGTGCCAGAGTTCCCAGGCAACAAACTTACCCTCAATGTTCCGGCACTTCTGCCGCACCTCGTACACCAGCCGCTCTGCAAGGGGAGGAGAGCTGGCGTCAGAGGAGGCCGCGCCTGCTCCTCGGATGCAGGCCTCCTGGTGCCACCCTCTCCAGAAGCAGGCCAACTACCTCTTGTGCGCTCATCAATAATCTCCTTGACCTTGGGCTTCTCCGCTGTGCTCTTCCGGGGCTTTTTGGCTGGTGGAGGTGGTGCGTAGGCAGCTGCCTCAGGTTCCACCCACATGTCCGTGTACACTTCTTTGTAGGGATTCTTCTCTTCTGGAGGAGGAAAGCAGGTGCCAAGGTCAGTTACAGGCTGACAGGAAACTCCAGCCCCTTCCCCCACCCTCCTTACAGTGGGGTGCGGCCTGGTCTCCAACTTGTTCCCACCTCCCAACTCTACGGTTCTAGCCAACCAACAGAGAGCAGGTCATTCAAGTCCTGACCCCAGGGCAAGAGAGACCCCGGCTGTTCCCACTGGGCCCCTCTGTGGAGGCCTTGGCAGCCCTCCCTAAGCATGGCTTTCCCAGCCCTGGTGTGGATCTGCCTGGCGGGCAGGGGTCCCAGAAAGCTGGGTGCCC
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TCTGGGATACAAAAAGCTGTAAATGAACTTCTCTAGGTTTACAGAAGAGCAGCATGGAGCTGAGAACAGAAGACAAACATCTGGCCGGGGAAGCCATCCCCTCCGCCTCACCCTCTAACCAGGGTCCCTGGGTTGAGACTGCCTATCTCCCTCTGGCCAAAGACATGAATTCTAAGAAGAGCTATTCCTTTCTTAAAAGCCGGGAAGCCCTTGGCTGGGGGGGCAGGGCAGAGGGGTGGATGTGTCTTCACAATCTCCTAGGACGCTTTCTGCAGTGTCCAGAGTCACATGAAGCAAACAATGCCTGCAGGGTGACCCAGCATCTCCTAAAGGTTTTCCTAAGGAGGGAATGGTTCAAGTATATATTCTATCAGGATGCTTGTCACAGCACTACTTATAATAATAATAAAAAAAATAGTAAATGACCTAATAGGGGTTCGTTAAATAAATTACGGCACTTTGACTCAATGGAACCTTACGCAACACTTACAAATAAAGAATGTAGCTTTGGCCGGGTCTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACAAGGTCAAGAGATCGAGACCAGCCTGGCCAACACGGTGAAACACCGTCTCTACTAAAAACACAAAAATTAGCTGGGCGTGGTGGTGGGTGCCTGCAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGGGCCAAGATGGCACCACTGCACTCCAGCCTGGGCAACAGACTCCGTCTCAAAAAAAAAAAAAAAAATGTAGCTTTATATCGCTTGACATGAAAAAGCAATCATAATATAATAAATGCAAGGCAAGTTACAAAACCGTGTGCATTCACTACCCACTTAATTTATCTATCTATGGATGTATGGTTATATAAACACAAACGCACAGAAAAAAATCTGAAAAGGACATATGCCAAAATATTAATAAAAGGATAATGGGTGATTTAAATAAGTCTTCTTTAGACTATCTTGTGTATAATCAAAACACAACAGAACTGTGTATGTTTCTGTCTTGCTGAATCTGTCCTTTGAGGCTCTGTGAAATCTCTGTGAATCTGACTAATGATCACTCGGCCTCTGTGGCTGAATCTTCCTTACTAAGGAAGCGCCCAGCAGGCAGGCTGCTTTACCACCTGTTTTACTTTTTTATTTTTGGTCAAATCTAAGTCCACGGACTGCATACGTTTCCACTTCACACACAAGCTTCCCCTTTGGGATAATATTTTAACAGCTGTGAAGCTAACCATCATTTCGTTTTGCCAGAGTTGCCCACACACCTGGCTCCCCCATCCTGGGACAAGGCGGCCAGCACCTCTTGGGCCTGCACCCCTCACCTGTAGCGATTCCATCAAAGAGAGACAGCACCCGGATGGGCTTCCTCTTCTCAGCTGGGACAGGTGGGTAAACCTTTGGAGGGTCCTAAGCAGTGAGCACAACAGGTCAGATGCAGGCCCAGCGGTGTCCCAAGCTCCCACCCAGCGCTGGCCCTCCAGCCAGGCTCCTAGACCCACACACCCTGCGCACAGCTCAGGCCCCACAACCAAGGCTCAGCCAAGGGAGCTCGAGACCGCGCCCCAGGCCCAGCACTCACAAATTCCTGGTCGTGGTTATTAGCGAAGAACATCTGGAGCCGGGAGGGCCAGTCCTCTCGCCGCCGCAGCAGCCCGTAGGTACCCTTGTGCCCGCACATGTAGCAGTTCCAGGGGTCTTCCTTAATGGCTGCCTGGGCAGCCCCCGGCCCCACCAAGAGGTCCACACACTCCACGCAAAAGCACCTGGAAGGAGACCCAGTGAGCAGAGGAGACTCTCAGCCCTGGTCCGGGGAGGCCAAGGTGTGCTACCTGGAATGGAAAGACCGGGTCTGGAGCATGGCTAGGGGGTGGAGGGTCTGTGGGGAAGGGAGAGGAGGGGAGGCGGTGGGCGGCGGGAGCCTGGGGCCCAGCTAAGGAGACCACTGGAGGCCACAACAGCCTCACCTGCAGCAGTTGTTGTTTCCGCACTTGAGCACCTCACGGCCCCCACAGCAGATGGTGCAGTAGGACTGGTAGCCGTCGTCGTCGTACTGGTACGCACACTCCAGAAAGCAGTTCTAGACAGCAGCGGGAAGGGTCAGAAACCACCAGGACGGGTCCCAGGACGGCCAGGACGAAGGGAGGCTCCACACCTGGCCTCACAGAGCCTAAGCCCTGAAGACATGACCCCGCCACCACCTTAGCCAGGGTCAGGCCCCAGCTGCAGATCTGGGAAGGGGAAACCTCATCTGCCTGTGCACCGCCATGGACAGAACCAAAGAGCAGCCTGAGAACAAGGCCAGGGAGGGGGCTGCACCACCACCTTGGGCCTTCCTGCAGCCCTGGGTTTTTCTCCTGGGCTCCCCAGGGCACGGCAACCCTGCTACACTCTGCCTGAGCTTGTCCCCGCTGCTCTGCTCCCATCCCCACATCTGGGGACTAAAATGGGGCTTGAGAGAGGTAAAGAATCTTTCAGAGGAGAAAAATGAGAGCAAGTCAAAAGCTTGAAACCCAAGGGCCCGTGTCATCAGGACTCTGCTTCCAGAGGAAGCTCTGAAGTCTACATCACACGCACACCGGGTGTCACCCTGTACATGCCCAGAAGCGGTGGACACAGTCAGCCAGAAGGCCGAAGGGCCGGCCTCAACGGCACCTCTCCTGGGTGGGTGTGCTCCTACCTTGCAGTTTTGGCACATTCCTCCAACGAAGAGGGGGTGTTCCAGGGTAACATTGAGGCTCCCACAGGAGATGCAGATGTCTGGAAAGCAGAGGGAGGGGATGGGGTGAGTACCACCGAAGGGCCTCTCCCTCCCCGGGCCGGAGCCCAGCACCAGACCAGCCACAAAAAAGGGGTGTGCCAGAGCGGCAGCCAGAAAAGAGTCCAGGGTGCCCCACGGAAAAGGGAGGCACTGTGACCCCAGTCTCGAACGCCATCATCTCAGAGCACCAATGCCACCATCCACAAACAGGGATGGAGTGACAGCAGGACAGAAACCTGCTCATGAGAAGCAGCCCTGGTTCCAGGTTACTCAGGAGGGATTCCCGGGGTAATCCTCAAGTCCTGACCCCTGCCCCAATCCTCCCAGGCCGAGGGTCCTGAGCCAGATCCACCAGCACCAGGCTGAGGGCGACAGCCCCAGGATGAGAGAGGTGAGCAAAGGTGAAAGGCTGAAAGGGGACCTGTAGGTGAGTTCAGTCACACCCAAGAGGGGCTGCCCTTCTGTGGCCACTGGGGAGTCCCACACCCTGAAGACCAGCCCACGCCATTGACAGGAGAGCAGAATCATGGCACCAGAAAGACAGACAGTGCACGAAGCACGGTGAAGGTGGTGTGACACGCAGGACGTGGCCCCTGGTCCCATGTCATTCAAACCTTCCTAAGTGCCTCTGCTACTCTGCCCCATGCCACACTAGGAGTGCCAGAGTTCCCAGGCAACAAACTTACCCTCAATGTTCCGGCACTTCTGCCGCACCTCGTACACCAGCCGCTCTGCAAGGGGAGGAGAGCTGGCGTCAGAGGAGGCCGCGCCTGCTCCTCGGATGCAGGCCTCCTGGTGCCACCCTCTCCAGAAGCAGGCCAACTACCTCTTGTGCGCTCATCAATAATCTCCTTGACCTTGGGCTTCTCCGCTGTGCTCTTCCGGGGCTTTTTGGCTGGTGGAGGTGGTGCGTAGGCAGCTGCCTCAGGTTCCACCCACATGTCCGTGTACACTTCTTTGTAGGGATTCTTCTCTTCTGGAGGAGGAAAGCAGGTGCCAAGGTCAGTTACAGGCTGACAGGAAACTCCAGCCCCTTCCCCCACCCTCCTTACAGTGGGGTGCGGCCTGGTCTCCAACTTGTTCCCACCTCCCAACTCTACGGTTCTAGCCAACCAACAGAGAGCAGGTCATTCAAGTCCTGACCCCAGGGCAAGAGAGACCCCGGCTGTTCCCACTGGGCCCCTCTGTGGAGGCCTTGGCAGCCCTCCCTAAGCATGGCTTTCCCAGCCCTGGTGTGGATCTGCCTGGCGGGCAGGGGTCCCAGAAAGCTGGGTGCCC
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Task1_train_3168
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Here is a genetic alteration in DNMT3A (DNA methyltransferase 3 alpha) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Tatton-Brown-Rahman overgrowth syndrome
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CTGGGCAACAGACTCCGTCTCAAAAAAAAAAAAAAAAATGTAGCTTTATATCGCTTGACATGAAAAAGCAATCATAATATAATAAATGCAAGGCAAGTTACAAAACCGTGTGCATTCACTACCCACTTAATTTATCTATCTATGGATGTATGGTTATATAAACACAAACGCACAGAAAAAAATCTGAAAAGGACATATGCCAAAATATTAATAAAAGGATAATGGGTGATTTAAATAAGTCTTCTTTAGACTATCTTGTGTATAATCAAAACACAACAGAACTGTGTATGTTTCTGTCTTGCTGAATCTGTCCTTTGAGGCTCTGTGAAATCTCTGTGAATCTGACTAATGATCACTCGGCCTCTGTGGCTGAATCTTCCTTACTAAGGAAGCGCCCAGCAGGCAGGCTGCTTTACCACCTGTTTTACTTTTTTATTTTTGGTCAAATCTAAGTCCACGGACTGCATACGTTTCCACTTCACACACAAGCTTCCCCTTTGGGATAATATTTTAACAGCTGTGAAGCTAACCATCATTTCGTTTTGCCAGAGTTGCCCACACACCTGGCTCCCCCATCCTGGGACAAGGCGGCCAGCACCTCTTGGGCCTGCACCCCTCACCTGTAGCGATTCCATCAAAGAGAGACAGCACCCGGATGGGCTTCCTCTTCTCAGCTGGGACAGGTGGGTAAACCTTTGGAGGGTCCTAAGCAGTGAGCACAACAGGTCAGATGCAGGCCCAGCGGTGTCCCAAGCTCCCACCCAGCGCTGGCCCTCCAGCCAGGCTCCTAGACCCACACACCCTGCGCACAGCTCAGGCCCCACAACCAAGGCTCAGCCAAGGGAGCTCGAGACCGCGCCCCAGGCCCAGCACTCACAAATTCCTGGTCGTGGTTATTAGCGAAGAACATCTGGAGCCGGGAGGGCCAGTCCTCTCGCCGCCGCAGCAGCCCGTAGGTACCCTTGTGCCCGCACATGTAGCAGTTCCAGGGGTCTTCCTTAATGGCTGCCTGGGCAGCCCCCGGCCCCACCAAGAGGTCCACACACTCCACGCAAAAGCACCTGGAAGGAGACCCAGTGAGCAGAGGAGACTCTCAGCCCTGGTCCGGGGAGGCCAAGGTGTGCTACCTGGAATGGAAAGACCGGGTCTGGAGCATGGCTAGGGGGTGGAGGGTCTGTGGGGAAGGGAGAGGAGGGGAGGCGGTGGGCGGCGGGAGCCTGGGGCCCAGCTAAGGAGACCACTGGAGGCCACAACAGCCTCACCTGCAGCAGTTGTTGTTTCCGCACATGAGCACCTCACGGCCCCCACAGCAGATGGTGCAGTAGGACTGGTAGCCGTCGTCGTCGTACTGGTACGCACACTCCAGAAAGCAGTTCTAGACAGCAGCGGGAAGGGTCAGAAACCACCAGGACGGGTCCCAGGACGGCCAGGACGAAGGGAGGCTCCACACCTGGCCTCACAGAGCCTAAGCCCTGAAGACATGACCCCGCCACCACCTTAGCCAGGGTCAGGCCCCAGCTGCAGATCTGGGAAGGGGAAACCTCATCTGCCTGTGCACCGCCATGGACAGAACCAAAGAGCAGCCTGAGAACAAGGCCAGGGAGGGGGCTGCACCACCACCTTGGGCCTTCCTGCAGCCCTGGGTTTTTCTCCTGGGCTCCCCAGGGCACGGCAACCCTGCTACACTCTGCCTGAGCTTGTCCCCGCTGCTCTGCTCCCATCCCCACATCTGGGGACTAAAATGGGGCTTGAGAGAGGTAAAGAATCTTTCAGAGGAGAAAAATGAGAGCAAGTCAAAAGCTTGAAACCCAAGGGCCCGTGTCATCAGGACTCTGCTTCCAGAGGAAGCTCTGAAGTCTACATCACACGCACACCGGGTGTCACCCTGTACATGCCCAGAAGCGGTGGACACAGTCAGCCAGAAGGCCGAAGGGCCGGCCTCAACGGCACCTCTCCTGGGTGGGTGTGCTCCTACCTTGCAGTTTTGGCACATTCCTCCAACGAAGAGGGGGTGTTCCAGGGTAACATTGAGGCTCCCACAGGAGATGCAGATGTCTGGAAAGCAGAGGGAGGGGATGGGGTGAGTACCACCGAAGGGCCTCTCCCTCCCCGGGCCGGAGCCCAGCACCAGACCAGCCACAAAAAAGGGGTGTGCCAGAGCGGCAGCCAGAAAAGAGTCCAGGGTGCCCCACGGAAAAGGGAGGCACTGTGACCCCAGTCTCGAACGCCATCATCTCAGAGCACCAATGCCACCATCCACAAACAGGGATGGAGTGACAGCAGGACAGAAACCTGCTCATGAGAAGCAGCCCTGGTTCCAGGTTACTCAGGAGGGATTCCCGGGGTAATCCTCAAGTCCTGACCCCTGCCCCAATCCTCCCAGGCCGAGGGTCCTGAGCCAGATCCACCAGCACCAGGCTGAGGGCGACAGCCCCAGGATGAGAGAGGTGAGCAAAGGTGAAAGGCTGAAAGGGGACCTGTAGGTGAGTTCAGTCACACCCAAGAGGGGCTGCCCTTCTGTGGCCACTGGGGAGTCCCACACCCTGAAGACCAGCCCACGCCATTGACAGGAGAGCAGAATCATGGCACCAGAAAGACAGACAGTGCACGAAGCACGGTGAAGGTGGTGTGACACGCAGGACGTGGCCCCTGGTCCCATGTCATTCAAACCTTCCTAAGTGCCTCTGCTACTCTGCCCCATGCCACACTAGGAGTGCCAGAGTTCCCAGGCAACAAACTTACCCTCAATGTTCCGGCACTTCTGCCGCACCTCGTACACCAGCCGCTCTGCAAGGGGAGGAGAGCTGGCGTCAGAGGAGGCCGCGCCTGCTCCTCGGATGCAGGCCTCCTGGTGCCACCCTCTCCAGAAGCAGGCCAACTACCTCTTGTGCGCTCATCAATAATCTCCTTGACCTTGGGCTTCTCCGCTGTGCTCTTCCGGGGCTTTTTGGCTGGTGGAGGTGGTGCGTAGGCAGCTGCCTCAGGTTCCACCCACATGTCCGTGTACACTTCTTTGTAGGGATTCTTCTCTTCTGGAGGAGGAAAGCAGGTGCCAAGGTCAGTTACAGGCTGACAGGAAACTCCAGCCCCTTCCCCCACCCTCCTTACAGTGGGGTGCGGCCTGGTCTCCAACTTGTTCCCACCTCCCAACTCTACGGTTCTAGCCAACCAACAGAGAGCAGGTCATTCAAGTCCTGACCCCAGGGCAAGAGAGACCCCGGCTGTTCCCACTGGGCCCCTCTGTGGAGGCCTTGGCAGCCCTCCCTAAGCATGGCTTTCCCAGCCCTGGTGTGGATCTGCCTGGCGGGCAGGGGTCCCAGAAAGCTGGGTGCCCTCATTTACCTTCTGGTGGCTCCAGGCCCTTAGGGCCAGAAGGCTGGAAGCCCCCCAGGGCCCATTCAATCATGGGCTTGTTCTGCACCTCCACGGCCTTGGCAGTGTCACTCTCATCGCTGTCGTGGCACACCGGGAACAGCTTCCCCGCGCGGCTGCTGGCCACCTGGAGGGTGACACGCCAGGGTTGGGGTTGTCAGGACAGGCTGGAAGGCAGATGGGTCAGGCTCAAGGCCAGACTCTGAGTAGTGAGGGTGGCACAGGCAAGATGGGGAGGAACCGCTGAGGAGGAGCGGGATGTGCATACGGGCGAGCGAGGTGGAGAGAAAGGAGTCGCTGCCTCCTGGGCCTCCGTTCTGCTCAAGCCCGACCTGCACTCCAACTTCCAGGCCTCCTAGTGCTCTAGGCTCCTCCTCCGAGCTCCCAGCAGGGACACTCACCTGCAGGACCTCGTAGATGGCTTTGCGGTACATGGGCTGCTTGTTGTACGTGGCCTGGTGGAACGCACTGCAAAACGAGCTCAGCGGCATCAGCTTCTCAACACACACCTGGGGGGACAAGCCAGGCCTTGTTTGCCGAGGCTTACACTTGCAAGCACCCACCCCATGCCTTGCAACTGGCAGGGGCTGGGAGCCTCGAGAGTCAGTCTCAGCCCTGGAGGGGACCAGATACAGTGATAAATAATTACCCGATGCAAAGAGGAGTCCAGACCAAGAGTAGGGAAGTACCTGAGTGCAGGTGGAAAGGAATTCTAGTGAATAGG
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CTGGGCAACAGACTCCGTCTCAAAAAAAAAAAAAAAAATGTAGCTTTATATCGCTTGACATGAAAAAGCAATCATAATATAATAAATGCAAGGCAAGTTACAAAACCGTGTGCATTCACTACCCACTTAATTTATCTATCTATGGATGTATGGTTATATAAACACAAACGCACAGAAAAAAATCTGAAAAGGACATATGCCAAAATATTAATAAAAGGATAATGGGTGATTTAAATAAGTCTTCTTTAGACTATCTTGTGTATAATCAAAACACAACAGAACTGTGTATGTTTCTGTCTTGCTGAATCTGTCCTTTGAGGCTCTGTGAAATCTCTGTGAATCTGACTAATGATCACTCGGCCTCTGTGGCTGAATCTTCCTTACTAAGGAAGCGCCCAGCAGGCAGGCTGCTTTACCACCTGTTTTACTTTTTTATTTTTGGTCAAATCTAAGTCCACGGACTGCATACGTTTCCACTTCACACACAAGCTTCCCCTTTGGGATAATATTTTAACAGCTGTGAAGCTAACCATCATTTCGTTTTGCCAGAGTTGCCCACACACCTGGCTCCCCCATCCTGGGACAAGGCGGCCAGCACCTCTTGGGCCTGCACCCCTCACCTGTAGCGATTCCATCAAAGAGAGACAGCACCCGGATGGGCTTCCTCTTCTCAGCTGGGACAGGTGGGTAAACCTTTGGAGGGTCCTAAGCAGTGAGCACAACAGGTCAGATGCAGGCCCAGCGGTGTCCCAAGCTCCCACCCAGCGCTGGCCCTCCAGCCAGGCTCCTAGACCCACACACCCTGCGCACAGCTCAGGCCCCACAACCAAGGCTCAGCCAAGGGAGCTCGAGACCGCGCCCCAGGCCCAGCACTCACAAATTCCTGGTCGTGGTTATTAGCGAAGAACATCTGGAGCCGGGAGGGCCAGTCCTCTCGCCGCCGCAGCAGCCCGTAGGTACCCTTGTGCCCGCACATGTAGCAGTTCCAGGGGTCTTCCTTAATGGCTGCCTGGGCAGCCCCCGGCCCCACCAAGAGGTCCACACACTCCACGCAAAAGCACCTGGAAGGAGACCCAGTGAGCAGAGGAGACTCTCAGCCCTGGTCCGGGGAGGCCAAGGTGTGCTACCTGGAATGGAAAGACCGGGTCTGGAGCATGGCTAGGGGGTGGAGGGTCTGTGGGGAAGGGAGAGGAGGGGAGGCGGTGGGCGGCGGGAGCCTGGGGCCCAGCTAAGGAGACCACTGGAGGCCACAACAGCCTCACCTGCAGCAGTTGTTGTTTCCGCACATGAGCACCTCACGGCCCCCACAGCAGATGGTGCAGTAGGACTGGTAGCCGTCGTCGTCGTACTGGTACGCACACTCCAGAAAGCAGTTCTAGACAGCAGCGGGAAGGGTCAGAAACCACCAGGACGGGTCCCAGGACGGCCAGGACGAAGGGAGGCTCCACACCTGGCCTCACAGAGCCTAAGCCCTGAAGACATGACCCCGCCACCACCTTAGCCAGGGTCAGGCCCCAGCTGCAGATCTGGGAAGGGGAAACCTCATCTGCCTGTGCACCGCCATGGACAGAACCAAAGAGCAGCCTGAGAACAAGGCCAGGGAGGGGGCTGCACCACCACCTTGGGCCTTCCTGCAGCCCTGGGTTTTTCTCCTGGGCTCCCCAGGGCACGGCAACCCTGCTACACTCTGCCTGAGCTTGTCCCCGCTGCTCTGCTCCCATCCCCACATCTGGGGACTAAAATGGGGCTTGAGAGAGGTAAAGAATCTTTCAGAGGAGAAAAATGAGAGCAAGTCAAAAGCTTGAAACCCAAGGGCCCGTGTCATCAGGACTCTGCTTCCAGAGGAAGCTCTGAAGTCTACATCACACGCACACCGGGTGTCACCCTGTACATGCCCAGAAGCGGTGGACACAGTCAGCCAGAAGGCCGAAGGGCCGGCCTCAACGGCACCTCTCCTGGGTGGGTGTGCTCCTACCTTGCAGTTTTGGCACATTCCTCCAACGAAGAGGGGGTGTTCCAGGGTAACATTGAGGCTCCCACAGGAGATGGAGATGTCTGGAAAGCAGAGGGAGGGGATGGGGTGAGTACCACCGAAGGGCCTCTCCCTCCCCGGGCCGGAGCCCAGCACCAGACCAGCCACAAAAAAGGGGTGTGCCAGAGCGGCAGCCAGAAAAGAGTCCAGGGTGCCCCACGGAAAAGGGAGGCACTGTGACCCCAGTCTCGAACGCCATCATCTCAGAGCACCAATGCCACCATCCACAAACAGGGATGGAGTGACAGCAGGACAGAAACCTGCTCATGAGAAGCAGCCCTGGTTCCAGGTTACTCAGGAGGGATTCCCGGGGTAATCCTCAAGTCCTGACCCCTGCCCCAATCCTCCCAGGCCGAGGGTCCTGAGCCAGATCCACCAGCACCAGGCTGAGGGCGACAGCCCCAGGATGAGAGAGGTGAGCAAAGGTGAAAGGCTGAAAGGGGACCTGTAGGTGAGTTCAGTCACACCCAAGAGGGGCTGCCCTTCTGTGGCCACTGGGGAGTCCCACACCCTGAAGACCAGCCCACGCCATTGACAGGAGAGCAGAATCATGGCACCAGAAAGACAGACAGTGCACGAAGCACGGTGAAGGTGGTGTGACACGCAGGACGTGGCCCCTGGTCCCATGTCATTCAAACCTTCCTAAGTGCCTCTGCTACTCTGCCCCATGCCACACTAGGAGTGCCAGAGTTCCCAGGCAACAAACTTACCCTCAATGTTCCGGCACTTCTGCCGCACCTCGTACACCAGCCGCTCTGCAAGGGGAGGAGAGCTGGCGTCAGAGGAGGCCGCGCCTGCTCCTCGGATGCAGGCCTCCTGGTGCCACCCTCTCCAGAAGCAGGCCAACTACCTCTTGTGCGCTCATCAATAATCTCCTTGACCTTGGGCTTCTCCGCTGTGCTCTTCCGGGGCTTTTTGGCTGGTGGAGGTGGTGCGTAGGCAGCTGCCTCAGGTTCCACCCACATGTCCGTGTACACTTCTTTGTAGGGATTCTTCTCTTCTGGAGGAGGAAAGCAGGTGCCAAGGTCAGTTACAGGCTGACAGGAAACTCCAGCCCCTTCCCCCACCCTCCTTACAGTGGGGTGCGGCCTGGTCTCCAACTTGTTCCCACCTCCCAACTCTACGGTTCTAGCCAACCAACAGAGAGCAGGTCATTCAAGTCCTGACCCCAGGGCAAGAGAGACCCCGGCTGTTCCCACTGGGCCCCTCTGTGGAGGCCTTGGCAGCCCTCCCTAAGCATGGCTTTCCCAGCCCTGGTGTGGATCTGCCTGGCGGGCAGGGGTCCCAGAAAGCTGGGTGCCCTCATTTACCTTCTGGTGGCTCCAGGCCCTTAGGGCCAGAAGGCTGGAAGCCCCCCAGGGCCCATTCAATCATGGGCTTGTTCTGCACCTCCACGGCCTTGGCAGTGTCACTCTCATCGCTGTCGTGGCACACCGGGAACAGCTTCCCCGCGCGGCTGCTGGCCACCTGGAGGGTGACACGCCAGGGTTGGGGTTGTCAGGACAGGCTGGAAGGCAGATGGGTCAGGCTCAAGGCCAGACTCTGAGTAGTGAGGGTGGCACAGGCAAGATGGGGAGGAACCGCTGAGGAGGAGCGGGATGTGCATACGGGCGAGCGAGGTGGAGAGAAAGGAGTCGCTGCCTCCTGGGCCTCCGTTCTGCTCAAGCCCGACCTGCACTCCAACTTCCAGGCCTCCTAGTGCTCTAGGCTCCTCCTCCGAGCTCCCAGCAGGGACACTCACCTGCAGGACCTCGTAGATGGCTTTGCGGTACATGGGCTGCTTGTTGTACGTGGCCTGGTGGAACGCACTGCAAAACGAGCTCAGCGGCATCAGCTTCTCAACACACACCTGGGGGGACAAGCCAGGCCTTGTTTGCCGAGGCTTACACTTGCAAGCACCCACCCCATGCCTTGCAACTGGCAGGGGCTGGGAGCCTCGAGAGTCAGTCTCAGCCCTGGAGGGGACCAGATACAGTGATAAATAATTACCCGATGCAAAGAGGAGTCCAGACCAAGAGTAGGGAAGTACCTGAGTGCAGGTGGAAAGGAATTCTAGTGAATAGG
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Task1_train_3169
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A variant was discovered in gene DNMT3A (DNA methyltransferase 3 alpha), Chromosome 2. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Heyn-Sproul-Jackson syndrome
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CCTGCTCATGAGAAGCAGCCCTGGTTCCAGGTTACTCAGGAGGGATTCCCGGGGTAATCCTCAAGTCCTGACCCCTGCCCCAATCCTCCCAGGCCGAGGGTCCTGAGCCAGATCCACCAGCACCAGGCTGAGGGCGACAGCCCCAGGATGAGAGAGGTGAGCAAAGGTGAAAGGCTGAAAGGGGACCTGTAGGTGAGTTCAGTCACACCCAAGAGGGGCTGCCCTTCTGTGGCCACTGGGGAGTCCCACACCCTGAAGACCAGCCCACGCCATTGACAGGAGAGCAGAATCATGGCACCAGAAAGACAGACAGTGCACGAAGCACGGTGAAGGTGGTGTGACACGCAGGACGTGGCCCCTGGTCCCATGTCATTCAAACCTTCCTAAGTGCCTCTGCTACTCTGCCCCATGCCACACTAGGAGTGCCAGAGTTCCCAGGCAACAAACTTACCCTCAATGTTCCGGCACTTCTGCCGCACCTCGTACACCAGCCGCTCTGCAAGGGGAGGAGAGCTGGCGTCAGAGGAGGCCGCGCCTGCTCCTCGGATGCAGGCCTCCTGGTGCCACCCTCTCCAGAAGCAGGCCAACTACCTCTTGTGCGCTCATCAATAATCTCCTTGACCTTGGGCTTCTCCGCTGTGCTCTTCCGGGGCTTTTTGGCTGGTGGAGGTGGTGCGTAGGCAGCTGCCTCAGGTTCCACCCACATGTCCGTGTACACTTCTTTGTAGGGATTCTTCTCTTCTGGAGGAGGAAAGCAGGTGCCAAGGTCAGTTACAGGCTGACAGGAAACTCCAGCCCCTTCCCCCACCCTCCTTACAGTGGGGTGCGGCCTGGTCTCCAACTTGTTCCCACCTCCCAACTCTACGGTTCTAGCCAACCAACAGAGAGCAGGTCATTCAAGTCCTGACCCCAGGGCAAGAGAGACCCCGGCTGTTCCCACTGGGCCCCTCTGTGGAGGCCTTGGCAGCCCTCCCTAAGCATGGCTTTCCCAGCCCTGGTGTGGATCTGCCTGGCGGGCAGGGGTCCCAGAAAGCTGGGTGCCCTCATTTACCTTCTGGTGGCTCCAGGCCCTTAGGGCCAGAAGGCTGGAAGCCCCCCAGGGCCCATTCAATCATGGGCTTGTTCTGCACCTCCACGGCCTTGGCAGTGTCACTCTCATCGCTGTCGTGGCACACCGGGAACAGCTTCCCCGCGCGGCTGCTGGCCACCTGGAGGGTGACACGCCAGGGTTGGGGTTGTCAGGACAGGCTGGAAGGCAGATGGGTCAGGCTCAAGGCCAGACTCTGAGTAGTGAGGGTGGCACAGGCAAGATGGGGAGGAACCGCTGAGGAGGAGCGGGATGTGCATACGGGCGAGCGAGGTGGAGAGAAAGGAGTCGCTGCCTCCTGGGCCTCCGTTCTGCTCAAGCCCGACCTGCACTCCAACTTCCAGGCCTCCTAGTGCTCTAGGCTCCTCCTCCGAGCTCCCAGCAGGGACACTCACCTGCAGGACCTCGTAGATGGCTTTGCGGTACATGGGCTGCTTGTTGTACGTGGCCTGGTGGAACGCACTGCAAAACGAGCTCAGCGGCATCAGCTTCTCAACACACACCTGGGGGGACAAGCCAGGCCTTGTTTGCCGAGGCTTACACTTGCAAGCACCCACCCCATGCCTTGCAACTGGCAGGGGCTGGGAGCCTCGAGAGTCAGTCTCAGCCCTGGAGGGGACCAGATACAGTGATAAATAATTACCCGATGCAAAGAGGAGTCCAGACCAAGAGTAGGGAAGTACCTGAGTGCAGGTGGAAAGGAATTCTAGTGAATAGGTTCCTGGAAGGCTAAAACTGGGCCAGCATCCTAGCTCTCTGAGCCACAGGTGCAACCTAATTATCCCTACAGCTTCTTCCACCCACCACAGGCAGAGTAGGGGTGAGCAGAACCCACTTCCATCACCCCAATTCCAGACTGCCCCCAGCCAAAACCACAGGCCCTGGGATCAAGAACCTTCCCCCACCCCAGGCTACTGCCAAACCCCACAACTTACCACTGAGAATTTGCCGTCTCCGAACCACATGACCCAGCGGGTGCCTTCAGCTGCTCGGCTCCGGCCCGTCATCCACCAAGACACAATGCGGCCTGGCCACCAGGAGAAGCCCCGCAGTTTCCCCCACACCAGCTCCCCAATGCCAAAGCCCCGGCCGTCCTGGAGCCCCAAGGAGCAGAAATCATTACACAGTGGTCACGAGGCCCTGCCACCCTGATCCCCCCATGGCAACCCCAGCCCTGGGCATCTGGGGGGCAGGACAGCCAGGAGGGAGCTCCATCTGAATGAGGCAAGACAGAGCAAAATCGGGGAGACGAAGAGGCCCGGGGTCAGGTGGAGAGAGCGAGCGGCCCGTGGGAGATGGAGAGAGGAGAGCAGGACGGGAGGAGCTGGCAGTGGAAGGCCCCCGGAAAGAGCTGGCCACGGCTGGTGAAGAAGCCGCTCACCTCGTACTCTGGCTCGTCATCGCCTGCTTTGGTGGCATTCTTGTCCCCAGCATCGGACCCCACGGGCTCAGGCGTGGTAGCCACAGTGGGGGATGCGGGGTCAGTGGGCTGCTGCACAGCAGGAGGGCTGGCCTCCTCCACCTTCTGAGACTCCCCGGGCCCCTGGTTTTCTTCCACAGCATTCATTCCTGCAATGACCTTGGCTTTCTTCTCAGCCTGGGGAAACAAAAAACAAAAAGTCACCTTGACCTCTCCAGGAATTAGCAAGGCCACCTGACACTCAAGGGGACCATGTTTGTCAAAACCCGGAACAGTGACAGAAGGTCAAGGGCTGGAGAGAGCCAACCAGCTGCCTTGCCGTGAAAAATGGAAAGACTTGAAGTAGAGAGGTGAACTCAAGTCACACAATTCCAGCCTTCTTTTCTGCCTTTTAGGAAACCTTCCTCCCAGATCTAATCTTCCTCAATCTCATCAGCATATCGGTTGCCTACCCTATGATACGGAAATGTTATTTATTTATTTTTTTTTTTGGAGACAGAGTCACTCTTTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCGCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATATTGACCAGGCTGGTCTCTAACTCCTGACCTCAGGTGATTTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTAGCCTACGTTAATGTTTTTTTTTTAATTTTATTATTATTATACTTTAAGTTTTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATTCATGTGCCATGTTGGTGTGCTGCACCCATTAACTTGTCATTTAGCATTATACCGTATATCTCCTAATGCTATCCCTCCCCCTACCTATGGAGATGTTAATTCTATCCAAATATTAATCAGGCACTATTGTTTAGACACAGATATTGGTTCCACCCTCTCCTATCTTCTTAATCAAGACTAGGATCTTCAGCCAGGCATGTGCCTGTAATCCCAGTTACTGAGCAGGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCCTGTCACCAAAAATTTAAAAAGCAAGGGGGACCCTCTCTTCTTCTCCACAATTCCCCTGGGCAATCAATCCTTCCTATTCCTGGTTTCCAGGCCACAATTCTAGTTTTGTGATGTCTGCTGACGAAGAAATCACTGCTCTGGGTTTAAAGAGCCCATCTCCCCCCAGCACATGCTCAAACACCATAGGAAGCTCCCCAAGAGCCTGTCTGTTCCCATGCTCAGACGCCATGCTGGAGTTCTTATGGATCACACCCAGTGTGTATTGTTACCAGATTCGACCCCTTCTATGTGCACCCTTCAGATCCATAAATACATGTATTCATTCAGTTATTTACTGAGCAGGCACTATAGACCAGGCGTGCTCTCTGCCATCCCACCAACAAATTAATAAGCCAAACCCCAGTTATTCTCCCATTGCACAGCCTCCATCCTTTCACCGTATCAC
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CCTGCTCATGAGAAGCAGCCCTGGTTCCAGGTTACTCAGGAGGGATTCCCGGGGTAATCCTCAAGTCCTGACCCCTGCCCCAATCCTCCCAGGCCGAGGGTCCTGAGCCAGATCCACCAGCACCAGGCTGAGGGCGACAGCCCCAGGATGAGAGAGGTGAGCAAAGGTGAAAGGCTGAAAGGGGACCTGTAGGTGAGTTCAGTCACACCCAAGAGGGGCTGCCCTTCTGTGGCCACTGGGGAGTCCCACACCCTGAAGACCAGCCCACGCCATTGACAGGAGAGCAGAATCATGGCACCAGAAAGACAGACAGTGCACGAAGCACGGTGAAGGTGGTGTGACACGCAGGACGTGGCCCCTGGTCCCATGTCATTCAAACCTTCCTAAGTGCCTCTGCTACTCTGCCCCATGCCACACTAGGAGTGCCAGAGTTCCCAGGCAACAAACTTACCCTCAATGTTCCGGCACTTCTGCCGCACCTCGTACACCAGCCGCTCTGCAAGGGGAGGAGAGCTGGCGTCAGAGGAGGCCGCGCCTGCTCCTCGGATGCAGGCCTCCTGGTGCCACCCTCTCCAGAAGCAGGCCAACTACCTCTTGTGCGCTCATCAATAATCTCCTTGACCTTGGGCTTCTCCGCTGTGCTCTTCCGGGGCTTTTTGGCTGGTGGAGGTGGTGCGTAGGCAGCTGCCTCAGGTTCCACCCACATGTCCGTGTACACTTCTTTGTAGGGATTCTTCTCTTCTGGAGGAGGAAAGCAGGTGCCAAGGTCAGTTACAGGCTGACAGGAAACTCCAGCCCCTTCCCCCACCCTCCTTACAGTGGGGTGCGGCCTGGTCTCCAACTTGTTCCCACCTCCCAACTCTACGGTTCTAGCCAACCAACAGAGAGCAGGTCATTCAAGTCCTGACCCCAGGGCAAGAGAGACCCCGGCTGTTCCCACTGGGCCCCTCTGTGGAGGCCTTGGCAGCCCTCCCTAAGCATGGCTTTCCCAGCCCTGGTGTGGATCTGCCTGGCGGGCAGGGGTCCCAGAAAGCTGGGTGCCCTCATTTACCTTCTGGTGGCTCCAGGCCCTTAGGGCCAGAAGGCTGGAAGCCCCCCAGGGCCCATTCAATCATGGGCTTGTTCTGCACCTCCACGGCCTTGGCAGTGTCACTCTCATCGCTGTCGTGGCACACCGGGAACAGCTTCCCCGCGCGGCTGCTGGCCACCTGGAGGGTGACACGCCAGGGTTGGGGTTGTCAGGACAGGCTGGAAGGCAGATGGGTCAGGCTCAAGGCCAGACTCTGAGTAGTGAGGGTGGCACAGGCAAGATGGGGAGGAACCGCTGAGGAGGAGCGGGATGTGCATACGGGCGAGCGAGGTGGAGAGAAAGGAGTCGCTGCCTCCTGGGCCTCCGTTCTGCTCAAGCCCGACCTGCACTCCAACTTCCAGGCCTCCTAGTGCTCTAGGCTCCTCCTCCGAGCTCCCAGCAGGGACACTCACCTGCAGGACCTCGTAGATGGCTTTGCGGTACATGGGCTGCTTGTTGTACGTGGCCTGGTGGAACGCACTGCAAAACGAGCTCAGCGGCATCAGCTTCTCAACACACACCTGGGGGGACAAGCCAGGCCTTGTTTGCCGAGGCTTACACTTGCAAGCACCCACCCCATGCCTTGCAACTGGCAGGGGCTGGGAGCCTCGAGAGTCAGTCTCAGCCCTGGAGGGGACCAGATACAGTGATAAATAATTACCCGATGCAAAGAGGAGTCCAGACCAAGAGTAGGGAAGTACCTGAGTGCAGGTGGAAAGGAATTCTAGTGAATAGGTTCCTGGAAGGCTAAAACTGGGCCAGCATCCTAGCTCTCTGAGCCACAGGTGCAACCTAATTATCCCTACAGCTTCTTCCACCCACCACAGGCAGAGTAGGGGTGAGCAGAACCCACTTCCATCACCCCAATTCCAGACTGCCCCCAGCCAAAACCACAGGCCCTGGGATCAAGAACCTTCCCCCACCCCAGGCTACTGCCAAACCCCACAACTTACCACTGAGAATTTGCCGTCTCCGAACCGCATGACCCAGCGGGTGCCTTCAGCTGCTCGGCTCCGGCCCGTCATCCACCAAGACACAATGCGGCCTGGCCACCAGGAGAAGCCCCGCAGTTTCCCCCACACCAGCTCCCCAATGCCAAAGCCCCGGCCGTCCTGGAGCCCCAAGGAGCAGAAATCATTACACAGTGGTCACGAGGCCCTGCCACCCTGATCCCCCCATGGCAACCCCAGCCCTGGGCATCTGGGGGGCAGGACAGCCAGGAGGGAGCTCCATCTGAATGAGGCAAGACAGAGCAAAATCGGGGAGACGAAGAGGCCCGGGGTCAGGTGGAGAGAGCGAGCGGCCCGTGGGAGATGGAGAGAGGAGAGCAGGACGGGAGGAGCTGGCAGTGGAAGGCCCCCGGAAAGAGCTGGCCACGGCTGGTGAAGAAGCCGCTCACCTCGTACTCTGGCTCGTCATCGCCTGCTTTGGTGGCATTCTTGTCCCCAGCATCGGACCCCACGGGCTCAGGCGTGGTAGCCACAGTGGGGGATGCGGGGTCAGTGGGCTGCTGCACAGCAGGAGGGCTGGCCTCCTCCACCTTCTGAGACTCCCCGGGCCCCTGGTTTTCTTCCACAGCATTCATTCCTGCAATGACCTTGGCTTTCTTCTCAGCCTGGGGAAACAAAAAACAAAAAGTCACCTTGACCTCTCCAGGAATTAGCAAGGCCACCTGACACTCAAGGGGACCATGTTTGTCAAAACCCGGAACAGTGACAGAAGGTCAAGGGCTGGAGAGAGCCAACCAGCTGCCTTGCCGTGAAAAATGGAAAGACTTGAAGTAGAGAGGTGAACTCAAGTCACACAATTCCAGCCTTCTTTTCTGCCTTTTAGGAAACCTTCCTCCCAGATCTAATCTTCCTCAATCTCATCAGCATATCGGTTGCCTACCCTATGATACGGAAATGTTATTTATTTATTTTTTTTTTTGGAGACAGAGTCACTCTTTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCGCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATATTGACCAGGCTGGTCTCTAACTCCTGACCTCAGGTGATTTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTAGCCTACGTTAATGTTTTTTTTTTAATTTTATTATTATTATACTTTAAGTTTTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATTCATGTGCCATGTTGGTGTGCTGCACCCATTAACTTGTCATTTAGCATTATACCGTATATCTCCTAATGCTATCCCTCCCCCTACCTATGGAGATGTTAATTCTATCCAAATATTAATCAGGCACTATTGTTTAGACACAGATATTGGTTCCACCCTCTCCTATCTTCTTAATCAAGACTAGGATCTTCAGCCAGGCATGTGCCTGTAATCCCAGTTACTGAGCAGGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCCTGTCACCAAAAATTTAAAAAGCAAGGGGGACCCTCTCTTCTTCTCCACAATTCCCCTGGGCAATCAATCCTTCCTATTCCTGGTTTCCAGGCCACAATTCTAGTTTTGTGATGTCTGCTGACGAAGAAATCACTGCTCTGGGTTTAAAGAGCCCATCTCCCCCCAGCACATGCTCAAACACCATAGGAAGCTCCCCAAGAGCCTGTCTGTTCCCATGCTCAGACGCCATGCTGGAGTTCTTATGGATCACACCCAGTGTGTATTGTTACCAGATTCGACCCCTTCTATGTGCACCCTTCAGATCCATAAATACATGTATTCATTCAGTTATTTACTGAGCAGGCACTATAGACCAGGCGTGCTCTCTGCCATCCCACCAACAAATTAATAAGCCAAACCCCAGTTATTCTCCCATTGCACAGCCTCCATCCTTTCACCGTATCAC
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Task1_train_3170
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With a mutation on Chromosome 2 in gene DNMT3A (DNA methyltransferase 3 alpha), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Tatton-Brown-Rahman overgrowth syndrome
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CTCAAGTCCTGACCCCTGCCCCAATCCTCCCAGGCCGAGGGTCCTGAGCCAGATCCACCAGCACCAGGCTGAGGGCGACAGCCCCAGGATGAGAGAGGTGAGCAAAGGTGAAAGGCTGAAAGGGGACCTGTAGGTGAGTTCAGTCACACCCAAGAGGGGCTGCCCTTCTGTGGCCACTGGGGAGTCCCACACCCTGAAGACCAGCCCACGCCATTGACAGGAGAGCAGAATCATGGCACCAGAAAGACAGACAGTGCACGAAGCACGGTGAAGGTGGTGTGACACGCAGGACGTGGCCCCTGGTCCCATGTCATTCAAACCTTCCTAAGTGCCTCTGCTACTCTGCCCCATGCCACACTAGGAGTGCCAGAGTTCCCAGGCAACAAACTTACCCTCAATGTTCCGGCACTTCTGCCGCACCTCGTACACCAGCCGCTCTGCAAGGGGAGGAGAGCTGGCGTCAGAGGAGGCCGCGCCTGCTCCTCGGATGCAGGCCTCCTGGTGCCACCCTCTCCAGAAGCAGGCCAACTACCTCTTGTGCGCTCATCAATAATCTCCTTGACCTTGGGCTTCTCCGCTGTGCTCTTCCGGGGCTTTTTGGCTGGTGGAGGTGGTGCGTAGGCAGCTGCCTCAGGTTCCACCCACATGTCCGTGTACACTTCTTTGTAGGGATTCTTCTCTTCTGGAGGAGGAAAGCAGGTGCCAAGGTCAGTTACAGGCTGACAGGAAACTCCAGCCCCTTCCCCCACCCTCCTTACAGTGGGGTGCGGCCTGGTCTCCAACTTGTTCCCACCTCCCAACTCTACGGTTCTAGCCAACCAACAGAGAGCAGGTCATTCAAGTCCTGACCCCAGGGCAAGAGAGACCCCGGCTGTTCCCACTGGGCCCCTCTGTGGAGGCCTTGGCAGCCCTCCCTAAGCATGGCTTTCCCAGCCCTGGTGTGGATCTGCCTGGCGGGCAGGGGTCCCAGAAAGCTGGGTGCCCTCATTTACCTTCTGGTGGCTCCAGGCCCTTAGGGCCAGAAGGCTGGAAGCCCCCCAGGGCCCATTCAATCATGGGCTTGTTCTGCACCTCCACGGCCTTGGCAGTGTCACTCTCATCGCTGTCGTGGCACACCGGGAACAGCTTCCCCGCGCGGCTGCTGGCCACCTGGAGGGTGACACGCCAGGGTTGGGGTTGTCAGGACAGGCTGGAAGGCAGATGGGTCAGGCTCAAGGCCAGACTCTGAGTAGTGAGGGTGGCACAGGCAAGATGGGGAGGAACCGCTGAGGAGGAGCGGGATGTGCATACGGGCGAGCGAGGTGGAGAGAAAGGAGTCGCTGCCTCCTGGGCCTCCGTTCTGCTCAAGCCCGACCTGCACTCCAACTTCCAGGCCTCCTAGTGCTCTAGGCTCCTCCTCCGAGCTCCCAGCAGGGACACTCACCTGCAGGACCTCGTAGATGGCTTTGCGGTACATGGGCTGCTTGTTGTACGTGGCCTGGTGGAACGCACTGCAAAACGAGCTCAGCGGCATCAGCTTCTCAACACACACCTGGGGGGACAAGCCAGGCCTTGTTTGCCGAGGCTTACACTTGCAAGCACCCACCCCATGCCTTGCAACTGGCAGGGGCTGGGAGCCTCGAGAGTCAGTCTCAGCCCTGGAGGGGACCAGATACAGTGATAAATAATTACCCGATGCAAAGAGGAGTCCAGACCAAGAGTAGGGAAGTACCTGAGTGCAGGTGGAAAGGAATTCTAGTGAATAGGTTCCTGGAAGGCTAAAACTGGGCCAGCATCCTAGCTCTCTGAGCCACAGGTGCAACCTAATTATCCCTACAGCTTCTTCCACCCACCACAGGCAGAGTAGGGGTGAGCAGAACCCACTTCCATCACCCCAATTCCAGACTGCCCCCAGCCAAAACCACAGGCCCTGGGATCAAGAACCTTCCCCCACCCCAGGCTACTGCCAAACCCCACAACTTACCACTGAGAATTTGCCGTCTCCGAACCACATGACCCAGCGGGTGCCTTCAGCTGCTCGGCTCCGGCCCGTCATCCACCAAGACACAATGCGGCCTGGCCACCAGGAGAAGCCCCGCAGTTTCCCCCACACCAGCTCCCCAATGCCAAAGCCCCGGCCGTCCTGGAGCCCCAAGGAGCAGAAATCATTACACAGTGGTCACGAGGCCCTGCCACCCTGATCCCCCCATGGCAACCCCAGCCCTGGGCATCTGGGGGGCAGGACAGCCAGGAGGGAGCTCCATCTGAATGAGGCAAGACAGAGCAAAATCGGGGAGACGAAGAGGCCCGGGGTCAGGTGGAGAGAGCGAGCGGCCCGTGGGAGATGGAGAGAGGAGAGCAGGACGGGAGGAGCTGGCAGTGGAAGGCCCCCGGAAAGAGCTGGCCACGGCTGGTGAAGAAGCCGCTCACCTCGTACTCTGGCTCGTCATCGCCTGCTTTGGTGGCATTCTTGTCCCCAGCATCGGACCCCACGGGCTCAGGCGTGGTAGCCACAGTGGGGGATGCGGGGTCAGTGGGCTGCTGCACAGCAGGAGGGCTGGCCTCCTCCACCTTCTGAGACTCCCCGGGCCCCTGGTTTTCTTCCACAGCATTCATTCCTGCAATGACCTTGGCTTTCTTCTCAGCCTGGGGAAACAAAAAACAAAAAGTCACCTTGACCTCTCCAGGAATTAGCAAGGCCACCTGACACTCAAGGGGACCATGTTTGTCAAAACCCGGAACAGTGACAGAAGGTCAAGGGCTGGAGAGAGCCAACCAGCTGCCTTGCCGTGAAAAATGGAAAGACTTGAAGTAGAGAGGTGAACTCAAGTCACACAATTCCAGCCTTCTTTTCTGCCTTTTAGGAAACCTTCCTCCCAGATCTAATCTTCCTCAATCTCATCAGCATATCGGTTGCCTACCCTATGATACGGAAATGTTATTTATTTATTTTTTTTTTTGGAGACAGAGTCACTCTTTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCGCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATATTGACCAGGCTGGTCTCTAACTCCTGACCTCAGGTGATTTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTAGCCTACGTTAATGTTTTTTTTTTAATTTTATTATTATTATACTTTAAGTTTTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATTCATGTGCCATGTTGGTGTGCTGCACCCATTAACTTGTCATTTAGCATTATACCGTATATCTCCTAATGCTATCCCTCCCCCTACCTATGGAGATGTTAATTCTATCCAAATATTAATCAGGCACTATTGTTTAGACACAGATATTGGTTCCACCCTCTCCTATCTTCTTAATCAAGACTAGGATCTTCAGCCAGGCATGTGCCTGTAATCCCAGTTACTGAGCAGGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCCTGTCACCAAAAATTTAAAAAGCAAGGGGGACCCTCTCTTCTTCTCCACAATTCCCCTGGGCAATCAATCCTTCCTATTCCTGGTTTCCAGGCCACAATTCTAGTTTTGTGATGTCTGCTGACGAAGAAATCACTGCTCTGGGTTTAAAGAGCCCATCTCCCCCCAGCACATGCTCAAACACCATAGGAAGCTCCCCAAGAGCCTGTCTGTTCCCATGCTCAGACGCCATGCTGGAGTTCTTATGGATCACACCCAGTGTGTATTGTTACCAGATTCGACCCCTTCTATGTGCACCCTTCAGATCCATAAATACATGTATTCATTCAGTTATTTACTGAGCAGGCACTATAGACCAGGCGTGCTCTCTGCCATCCCACCAACAAATTAATAAGCCAAACCCCAGTTATTCTCCCATTGCACAGCCTCCATCCTTTCACCGTATCACACTCGTCTTTCAGGCTACGATCCACGCGCCCATTCCTTCTCACAACCCGCTCCAGGATC
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CTCAAGTCCTGACCCCTGCCCCAATCCTCCCAGGCCGAGGGTCCTGAGCCAGATCCACCAGCACCAGGCTGAGGGCGACAGCCCCAGGATGAGAGAGGTGAGCAAAGGTGAAAGGCTGAAAGGGGACCTGTAGGTGAGTTCAGTCACACCCAAGAGGGGCTGCCCTTCTGTGGCCACTGGGGAGTCCCACACCCTGAAGACCAGCCCACGCCATTGACAGGAGAGCAGAATCATGGCACCAGAAAGACAGACAGTGCACGAAGCACGGTGAAGGTGGTGTGACACGCAGGACGTGGCCCCTGGTCCCATGTCATTCAAACCTTCCTAAGTGCCTCTGCTACTCTGCCCCATGCCACACTAGGAGTGCCAGAGTTCCCAGGCAACAAACTTACCCTCAATGTTCCGGCACTTCTGCCGCACCTCGTACACCAGCCGCTCTGCAAGGGGAGGAGAGCTGGCGTCAGAGGAGGCCGCGCCTGCTCCTCGGATGCAGGCCTCCTGGTGCCACCCTCTCCAGAAGCAGGCCAACTACCTCTTGTGCGCTCATCAATAATCTCCTTGACCTTGGGCTTCTCCGCTGTGCTCTTCCGGGGCTTTTTGGCTGGTGGAGGTGGTGCGTAGGCAGCTGCCTCAGGTTCCACCCACATGTCCGTGTACACTTCTTTGTAGGGATTCTTCTCTTCTGGAGGAGGAAAGCAGGTGCCAAGGTCAGTTACAGGCTGACAGGAAACTCCAGCCCCTTCCCCCACCCTCCTTACAGTGGGGTGCGGCCTGGTCTCCAACTTGTTCCCACCTCCCAACTCTACGGTTCTAGCCAACCAACAGAGAGCAGGTCATTCAAGTCCTGACCCCAGGGCAAGAGAGACCCCGGCTGTTCCCACTGGGCCCCTCTGTGGAGGCCTTGGCAGCCCTCCCTAAGCATGGCTTTCCCAGCCCTGGTGTGGATCTGCCTGGCGGGCAGGGGTCCCAGAAAGCTGGGTGCCCTCATTTACCTTCTGGTGGCTCCAGGCCCTTAGGGCCAGAAGGCTGGAAGCCCCCCAGGGCCCATTCAATCATGGGCTTGTTCTGCACCTCCACGGCCTTGGCAGTGTCACTCTCATCGCTGTCGTGGCACACCGGGAACAGCTTCCCCGCGCGGCTGCTGGCCACCTGGAGGGTGACACGCCAGGGTTGGGGTTGTCAGGACAGGCTGGAAGGCAGATGGGTCAGGCTCAAGGCCAGACTCTGAGTAGTGAGGGTGGCACAGGCAAGATGGGGAGGAACCGCTGAGGAGGAGCGGGATGTGCATACGGGCGAGCGAGGTGGAGAGAAAGGAGTCGCTGCCTCCTGGGCCTCCGTTCTGCTCAAGCCCGACCTGCACTCCAACTTCCAGGCCTCCTAGTGCTCTAGGCTCCTCCTCCGAGCTCCCAGCAGGGACACTCACCTGCAGGACCTCGTAGATGGCTTTGCGGTACATGGGCTGCTTGTTGTACGTGGCCTGGTGGAACGCACTGCAAAACGAGCTCAGCGGCATCAGCTTCTCAACACACACCTGGGGGGACAAGCCAGGCCTTGTTTGCCGAGGCTTACACTTGCAAGCACCCACCCCATGCCTTGCAACTGGCAGGGGCTGGGAGCCTCGAGAGTCAGTCTCAGCCCTGGAGGGGACCAGATACAGTGATAAATAATTACCCGATGCAAAGAGGAGTCCAGACCAAGAGTAGGGAAGTACCTGAGTGCAGGTGGAAAGGAATTCTAGTGAATAGGTTCCTGGAAGGCTAAAACTGGGCCAGCATCCTAGCTCTCTGAGCCACAGGTGCAACCTAATTATCCCTACAGCTTCTTCCACCCACCACAGGCAGAGTAGGGGTGAGCAGAACCCACTTCCATCACCCCAATTCCAGACTGCCCCCAGCCAAAACCACAGGCCCTGGGATCAAGAACCTTCCCCCACCCCAGGCTACTGCCAAACCCCACAACTTACCACTGAGAATTTGCCGTCTCCGAACCACATGACCCAGCGGGTGCCTTCAGCTGCTCGGCTCCGGCCCGTCATCCACCAAGACACATTGCGGCCTGGCCACCAGGAGAAGCCCCGCAGTTTCCCCCACACCAGCTCCCCAATGCCAAAGCCCCGGCCGTCCTGGAGCCCCAAGGAGCAGAAATCATTACACAGTGGTCACGAGGCCCTGCCACCCTGATCCCCCCATGGCAACCCCAGCCCTGGGCATCTGGGGGGCAGGACAGCCAGGAGGGAGCTCCATCTGAATGAGGCAAGACAGAGCAAAATCGGGGAGACGAAGAGGCCCGGGGTCAGGTGGAGAGAGCGAGCGGCCCGTGGGAGATGGAGAGAGGAGAGCAGGACGGGAGGAGCTGGCAGTGGAAGGCCCCCGGAAAGAGCTGGCCACGGCTGGTGAAGAAGCCGCTCACCTCGTACTCTGGCTCGTCATCGCCTGCTTTGGTGGCATTCTTGTCCCCAGCATCGGACCCCACGGGCTCAGGCGTGGTAGCCACAGTGGGGGATGCGGGGTCAGTGGGCTGCTGCACAGCAGGAGGGCTGGCCTCCTCCACCTTCTGAGACTCCCCGGGCCCCTGGTTTTCTTCCACAGCATTCATTCCTGCAATGACCTTGGCTTTCTTCTCAGCCTGGGGAAACAAAAAACAAAAAGTCACCTTGACCTCTCCAGGAATTAGCAAGGCCACCTGACACTCAAGGGGACCATGTTTGTCAAAACCCGGAACAGTGACAGAAGGTCAAGGGCTGGAGAGAGCCAACCAGCTGCCTTGCCGTGAAAAATGGAAAGACTTGAAGTAGAGAGGTGAACTCAAGTCACACAATTCCAGCCTTCTTTTCTGCCTTTTAGGAAACCTTCCTCCCAGATCTAATCTTCCTCAATCTCATCAGCATATCGGTTGCCTACCCTATGATACGGAAATGTTATTTATTTATTTTTTTTTTTGGAGACAGAGTCACTCTTTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCGCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATATTGACCAGGCTGGTCTCTAACTCCTGACCTCAGGTGATTTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTAGCCTACGTTAATGTTTTTTTTTTAATTTTATTATTATTATACTTTAAGTTTTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATTCATGTGCCATGTTGGTGTGCTGCACCCATTAACTTGTCATTTAGCATTATACCGTATATCTCCTAATGCTATCCCTCCCCCTACCTATGGAGATGTTAATTCTATCCAAATATTAATCAGGCACTATTGTTTAGACACAGATATTGGTTCCACCCTCTCCTATCTTCTTAATCAAGACTAGGATCTTCAGCCAGGCATGTGCCTGTAATCCCAGTTACTGAGCAGGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCCTGTCACCAAAAATTTAAAAAGCAAGGGGGACCCTCTCTTCTTCTCCACAATTCCCCTGGGCAATCAATCCTTCCTATTCCTGGTTTCCAGGCCACAATTCTAGTTTTGTGATGTCTGCTGACGAAGAAATCACTGCTCTGGGTTTAAAGAGCCCATCTCCCCCCAGCACATGCTCAAACACCATAGGAAGCTCCCCAAGAGCCTGTCTGTTCCCATGCTCAGACGCCATGCTGGAGTTCTTATGGATCACACCCAGTGTGTATTGTTACCAGATTCGACCCCTTCTATGTGCACCCTTCAGATCCATAAATACATGTATTCATTCAGTTATTTACTGAGCAGGCACTATAGACCAGGCGTGCTCTCTGCCATCCCACCAACAAATTAATAAGCCAAACCCCAGTTATTCTCCCATTGCACAGCCTCCATCCTTTCACCGTATCACACTCGTCTTTCAGGCTACGATCCACGCGCCCATTCCTTCTCACAACCCGCTCCAGGATC
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Task1_train_3171
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This genomic variant is located on Chromosome 2, within the DNMT3A (DNA methyltransferase 3 alpha) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Inborn genetic diseases
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AGGGTCCTGAGCCAGATCCACCAGCACCAGGCTGAGGGCGACAGCCCCAGGATGAGAGAGGTGAGCAAAGGTGAAAGGCTGAAAGGGGACCTGTAGGTGAGTTCAGTCACACCCAAGAGGGGCTGCCCTTCTGTGGCCACTGGGGAGTCCCACACCCTGAAGACCAGCCCACGCCATTGACAGGAGAGCAGAATCATGGCACCAGAAAGACAGACAGTGCACGAAGCACGGTGAAGGTGGTGTGACACGCAGGACGTGGCCCCTGGTCCCATGTCATTCAAACCTTCCTAAGTGCCTCTGCTACTCTGCCCCATGCCACACTAGGAGTGCCAGAGTTCCCAGGCAACAAACTTACCCTCAATGTTCCGGCACTTCTGCCGCACCTCGTACACCAGCCGCTCTGCAAGGGGAGGAGAGCTGGCGTCAGAGGAGGCCGCGCCTGCTCCTCGGATGCAGGCCTCCTGGTGCCACCCTCTCCAGAAGCAGGCCAACTACCTCTTGTGCGCTCATCAATAATCTCCTTGACCTTGGGCTTCTCCGCTGTGCTCTTCCGGGGCTTTTTGGCTGGTGGAGGTGGTGCGTAGGCAGCTGCCTCAGGTTCCACCCACATGTCCGTGTACACTTCTTTGTAGGGATTCTTCTCTTCTGGAGGAGGAAAGCAGGTGCCAAGGTCAGTTACAGGCTGACAGGAAACTCCAGCCCCTTCCCCCACCCTCCTTACAGTGGGGTGCGGCCTGGTCTCCAACTTGTTCCCACCTCCCAACTCTACGGTTCTAGCCAACCAACAGAGAGCAGGTCATTCAAGTCCTGACCCCAGGGCAAGAGAGACCCCGGCTGTTCCCACTGGGCCCCTCTGTGGAGGCCTTGGCAGCCCTCCCTAAGCATGGCTTTCCCAGCCCTGGTGTGGATCTGCCTGGCGGGCAGGGGTCCCAGAAAGCTGGGTGCCCTCATTTACCTTCTGGTGGCTCCAGGCCCTTAGGGCCAGAAGGCTGGAAGCCCCCCAGGGCCCATTCAATCATGGGCTTGTTCTGCACCTCCACGGCCTTGGCAGTGTCACTCTCATCGCTGTCGTGGCACACCGGGAACAGCTTCCCCGCGCGGCTGCTGGCCACCTGGAGGGTGACACGCCAGGGTTGGGGTTGTCAGGACAGGCTGGAAGGCAGATGGGTCAGGCTCAAGGCCAGACTCTGAGTAGTGAGGGTGGCACAGGCAAGATGGGGAGGAACCGCTGAGGAGGAGCGGGATGTGCATACGGGCGAGCGAGGTGGAGAGAAAGGAGTCGCTGCCTCCTGGGCCTCCGTTCTGCTCAAGCCCGACCTGCACTCCAACTTCCAGGCCTCCTAGTGCTCTAGGCTCCTCCTCCGAGCTCCCAGCAGGGACACTCACCTGCAGGACCTCGTAGATGGCTTTGCGGTACATGGGCTGCTTGTTGTACGTGGCCTGGTGGAACGCACTGCAAAACGAGCTCAGCGGCATCAGCTTCTCAACACACACCTGGGGGGACAAGCCAGGCCTTGTTTGCCGAGGCTTACACTTGCAAGCACCCACCCCATGCCTTGCAACTGGCAGGGGCTGGGAGCCTCGAGAGTCAGTCTCAGCCCTGGAGGGGACCAGATACAGTGATAAATAATTACCCGATGCAAAGAGGAGTCCAGACCAAGAGTAGGGAAGTACCTGAGTGCAGGTGGAAAGGAATTCTAGTGAATAGGTTCCTGGAAGGCTAAAACTGGGCCAGCATCCTAGCTCTCTGAGCCACAGGTGCAACCTAATTATCCCTACAGCTTCTTCCACCCACCACAGGCAGAGTAGGGGTGAGCAGAACCCACTTCCATCACCCCAATTCCAGACTGCCCCCAGCCAAAACCACAGGCCCTGGGATCAAGAACCTTCCCCCACCCCAGGCTACTGCCAAACCCCACAACTTACCACTGAGAATTTGCCGTCTCCGAACCACATGACCCAGCGGGTGCCTTCAGCTGCTCGGCTCCGGCCCGTCATCCACCAAGACACAATGCGGCCTGGCCACCAGGAGAAGCCCCGCAGTTTCCCCCACACCAGCTCCCCAATGCCAAAGCCCCGGCCGTCCTGGAGCCCCAAGGAGCAGAAATCATTACACAGTGGTCACGAGGCCCTGCCACCCTGATCCCCCCATGGCAACCCCAGCCCTGGGCATCTGGGGGGCAGGACAGCCAGGAGGGAGCTCCATCTGAATGAGGCAAGACAGAGCAAAATCGGGGAGACGAAGAGGCCCGGGGTCAGGTGGAGAGAGCGAGCGGCCCGTGGGAGATGGAGAGAGGAGAGCAGGACGGGAGGAGCTGGCAGTGGAAGGCCCCCGGAAAGAGCTGGCCACGGCTGGTGAAGAAGCCGCTCACCTCGTACTCTGGCTCGTCATCGCCTGCTTTGGTGGCATTCTTGTCCCCAGCATCGGACCCCACGGGCTCAGGCGTGGTAGCCACAGTGGGGGATGCGGGGTCAGTGGGCTGCTGCACAGCAGGAGGGCTGGCCTCCTCCACCTTCTGAGACTCCCCGGGCCCCTGGTTTTCTTCCACAGCATTCATTCCTGCAATGACCTTGGCTTTCTTCTCAGCCTGGGGAAACAAAAAACAAAAAGTCACCTTGACCTCTCCAGGAATTAGCAAGGCCACCTGACACTCAAGGGGACCATGTTTGTCAAAACCCGGAACAGTGACAGAAGGTCAAGGGCTGGAGAGAGCCAACCAGCTGCCTTGCCGTGAAAAATGGAAAGACTTGAAGTAGAGAGGTGAACTCAAGTCACACAATTCCAGCCTTCTTTTCTGCCTTTTAGGAAACCTTCCTCCCAGATCTAATCTTCCTCAATCTCATCAGCATATCGGTTGCCTACCCTATGATACGGAAATGTTATTTATTTATTTTTTTTTTTGGAGACAGAGTCACTCTTTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCGCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATATTGACCAGGCTGGTCTCTAACTCCTGACCTCAGGTGATTTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTAGCCTACGTTAATGTTTTTTTTTTAATTTTATTATTATTATACTTTAAGTTTTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATTCATGTGCCATGTTGGTGTGCTGCACCCATTAACTTGTCATTTAGCATTATACCGTATATCTCCTAATGCTATCCCTCCCCCTACCTATGGAGATGTTAATTCTATCCAAATATTAATCAGGCACTATTGTTTAGACACAGATATTGGTTCCACCCTCTCCTATCTTCTTAATCAAGACTAGGATCTTCAGCCAGGCATGTGCCTGTAATCCCAGTTACTGAGCAGGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCCTGTCACCAAAAATTTAAAAAGCAAGGGGGACCCTCTCTTCTTCTCCACAATTCCCCTGGGCAATCAATCCTTCCTATTCCTGGTTTCCAGGCCACAATTCTAGTTTTGTGATGTCTGCTGACGAAGAAATCACTGCTCTGGGTTTAAAGAGCCCATCTCCCCCCAGCACATGCTCAAACACCATAGGAAGCTCCCCAAGAGCCTGTCTGTTCCCATGCTCAGACGCCATGCTGGAGTTCTTATGGATCACACCCAGTGTGTATTGTTACCAGATTCGACCCCTTCTATGTGCACCCTTCAGATCCATAAATACATGTATTCATTCAGTTATTTACTGAGCAGGCACTATAGACCAGGCGTGCTCTCTGCCATCCCACCAACAAATTAATAAGCCAAACCCCAGTTATTCTCCCATTGCACAGCCTCCATCCTTTCACCGTATCACACTCGTCTTTCAGGCTACGATCCACGCGCCCATTCCTTCTCACAACCCGCTCCAGGATCCCTACAAAGGAGAATGAAATCCTTGATACTTAGCTCT
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AGGGTCCTGAGCCAGATCCACCAGCACCAGGCTGAGGGCGACAGCCCCAGGATGAGAGAGGTGAGCAAAGGTGAAAGGCTGAAAGGGGACCTGTAGGTGAGTTCAGTCACACCCAAGAGGGGCTGCCCTTCTGTGGCCACTGGGGAGTCCCACACCCTGAAGACCAGCCCACGCCATTGACAGGAGAGCAGAATCATGGCACCAGAAAGACAGACAGTGCACGAAGCACGGTGAAGGTGGTGTGACACGCAGGACGTGGCCCCTGGTCCCATGTCATTCAAACCTTCCTAAGTGCCTCTGCTACTCTGCCCCATGCCACACTAGGAGTGCCAGAGTTCCCAGGCAACAAACTTACCCTCAATGTTCCGGCACTTCTGCCGCACCTCGTACACCAGCCGCTCTGCAAGGGGAGGAGAGCTGGCGTCAGAGGAGGCCGCGCCTGCTCCTCGGATGCAGGCCTCCTGGTGCCACCCTCTCCAGAAGCAGGCCAACTACCTCTTGTGCGCTCATCAATAATCTCCTTGACCTTGGGCTTCTCCGCTGTGCTCTTCCGGGGCTTTTTGGCTGGTGGAGGTGGTGCGTAGGCAGCTGCCTCAGGTTCCACCCACATGTCCGTGTACACTTCTTTGTAGGGATTCTTCTCTTCTGGAGGAGGAAAGCAGGTGCCAAGGTCAGTTACAGGCTGACAGGAAACTCCAGCCCCTTCCCCCACCCTCCTTACAGTGGGGTGCGGCCTGGTCTCCAACTTGTTCCCACCTCCCAACTCTACGGTTCTAGCCAACCAACAGAGAGCAGGTCATTCAAGTCCTGACCCCAGGGCAAGAGAGACCCCGGCTGTTCCCACTGGGCCCCTCTGTGGAGGCCTTGGCAGCCCTCCCTAAGCATGGCTTTCCCAGCCCTGGTGTGGATCTGCCTGGCGGGCAGGGGTCCCAGAAAGCTGGGTGCCCTCATTTACCTTCTGGTGGCTCCAGGCCCTTAGGGCCAGAAGGCTGGAAGCCCCCCAGGGCCCATTCAATCATGGGCTTGTTCTGCACCTCCACGGCCTTGGCAGTGTCACTCTCATCGCTGTCGTGGCACACCGGGAACAGCTTCCCCGCGCGGCTGCTGGCCACCTGGAGGGTGACACGCCAGGGTTGGGGTTGTCAGGACAGGCTGGAAGGCAGATGGGTCAGGCTCAAGGCCAGACTCTGAGTAGTGAGGGTGGCACAGGCAAGATGGGGAGGAACCGCTGAGGAGGAGCGGGATGTGCATACGGGCGAGCGAGGTGGAGAGAAAGGAGTCGCTGCCTCCTGGGCCTCCGTTCTGCTCAAGCCCGACCTGCACTCCAACTTCCAGGCCTCCTAGTGCTCTAGGCTCCTCCTCCGAGCTCCCAGCAGGGACACTCACCTGCAGGACCTCGTAGATGGCTTTGCGGTACATGGGCTGCTTGTTGTACGTGGCCTGGTGGAACGCACTGCAAAACGAGCTCAGCGGCATCAGCTTCTCAACACACACCTGGGGGGACAAGCCAGGCCTTGTTTGCCGAGGCTTACACTTGCAAGCACCCACCCCATGCCTTGCAACTGGCAGGGGCTGGGAGCCTCGAGAGTCAGTCTCAGCCCTGGAGGGGACCAGATACAGTGATAAATAATTACCCGATGCAAAGAGGAGTCCAGACCAAGAGTAGGGAAGTACCTGAGTGCAGGTGGAAAGGAATTCTAGTGAATAGGTTCCTGGAAGGCTAAAACTGGGCCAGCATCCTAGCTCTCTGAGCCACAGGTGCAACCTAATTATCCCTACAGCTTCTTCCACCCACCACAGGCAGAGTAGGGGTGAGCAGAACCCACTTCCATCACCCCAATTCCAGACTGCCCCCAGCCAAAACCACAGGCCCTGGGATCAAGAACCTTCCCCCACCCCAGGCTACTGCCAAACCCCACAACTTACCACTGAGAATTTGCCGTCTCCGAACCACATGACCCAGCGGGTGCCTTCAGCTGCTCGGCTCCGGCCCGTCATCCACCAAGACACAATGCGGCCTGGCCACCAGGAGAAGCCCCGCAGTTTCCACCACACCAGCTCCCCAATGCCAAAGCCCCGGCCGTCCTGGAGCCCCAAGGAGCAGAAATCATTACACAGTGGTCACGAGGCCCTGCCACCCTGATCCCCCCATGGCAACCCCAGCCCTGGGCATCTGGGGGGCAGGACAGCCAGGAGGGAGCTCCATCTGAATGAGGCAAGACAGAGCAAAATCGGGGAGACGAAGAGGCCCGGGGTCAGGTGGAGAGAGCGAGCGGCCCGTGGGAGATGGAGAGAGGAGAGCAGGACGGGAGGAGCTGGCAGTGGAAGGCCCCCGGAAAGAGCTGGCCACGGCTGGTGAAGAAGCCGCTCACCTCGTACTCTGGCTCGTCATCGCCTGCTTTGGTGGCATTCTTGTCCCCAGCATCGGACCCCACGGGCTCAGGCGTGGTAGCCACAGTGGGGGATGCGGGGTCAGTGGGCTGCTGCACAGCAGGAGGGCTGGCCTCCTCCACCTTCTGAGACTCCCCGGGCCCCTGGTTTTCTTCCACAGCATTCATTCCTGCAATGACCTTGGCTTTCTTCTCAGCCTGGGGAAACAAAAAACAAAAAGTCACCTTGACCTCTCCAGGAATTAGCAAGGCCACCTGACACTCAAGGGGACCATGTTTGTCAAAACCCGGAACAGTGACAGAAGGTCAAGGGCTGGAGAGAGCCAACCAGCTGCCTTGCCGTGAAAAATGGAAAGACTTGAAGTAGAGAGGTGAACTCAAGTCACACAATTCCAGCCTTCTTTTCTGCCTTTTAGGAAACCTTCCTCCCAGATCTAATCTTCCTCAATCTCATCAGCATATCGGTTGCCTACCCTATGATACGGAAATGTTATTTATTTATTTTTTTTTTTGGAGACAGAGTCACTCTTTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCGCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATATTGACCAGGCTGGTCTCTAACTCCTGACCTCAGGTGATTTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTAGCCTACGTTAATGTTTTTTTTTTAATTTTATTATTATTATACTTTAAGTTTTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATTCATGTGCCATGTTGGTGTGCTGCACCCATTAACTTGTCATTTAGCATTATACCGTATATCTCCTAATGCTATCCCTCCCCCTACCTATGGAGATGTTAATTCTATCCAAATATTAATCAGGCACTATTGTTTAGACACAGATATTGGTTCCACCCTCTCCTATCTTCTTAATCAAGACTAGGATCTTCAGCCAGGCATGTGCCTGTAATCCCAGTTACTGAGCAGGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCCTGTCACCAAAAATTTAAAAAGCAAGGGGGACCCTCTCTTCTTCTCCACAATTCCCCTGGGCAATCAATCCTTCCTATTCCTGGTTTCCAGGCCACAATTCTAGTTTTGTGATGTCTGCTGACGAAGAAATCACTGCTCTGGGTTTAAAGAGCCCATCTCCCCCCAGCACATGCTCAAACACCATAGGAAGCTCCCCAAGAGCCTGTCTGTTCCCATGCTCAGACGCCATGCTGGAGTTCTTATGGATCACACCCAGTGTGTATTGTTACCAGATTCGACCCCTTCTATGTGCACCCTTCAGATCCATAAATACATGTATTCATTCAGTTATTTACTGAGCAGGCACTATAGACCAGGCGTGCTCTCTGCCATCCCACCAACAAATTAATAAGCCAAACCCCAGTTATTCTCCCATTGCACAGCCTCCATCCTTTCACCGTATCACACTCGTCTTTCAGGCTACGATCCACGCGCCCATTCCTTCTCACAACCCGCTCCAGGATCCCTACAAAGGAGAATGAAATCCTTGATACTTAGCTCT
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Task1_train_3172
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Located on Chromosome 2, this mutation impacts GAREM2, HADHA (GRB2 associated regulator of MAPK1 subtype 2| hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; not specified
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CTTGCTTCTGCACTATTGCAGATTTCATCTCTGGGGGATAAAAATGCTTGTCCATCTGGCATAACTTGGACCAGGTGATGCTAGAGCCCCAGAAGGGTAGAACTCTGCCTTTTGTCCATAATCTATAGTCCTAGCCCTTAGAAGGTTCACATGACATCTTTTTTTTTTTTTTTTTTTGAGAAGGGGCCTCGCCATGTTGCCCAGGCTGGCCTCACACTTCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTAAGCAGCTAAGACCATAAGTGGTTGCTACCGCACCTGACTCATAAAATCATTTTTGAAATCGCCAGTGATAAGGGCTCTGTGTTTAGAAAACTTTCTTCCACGAGGGCTTCTGTAACTCTTTGGTCTCAGGAACTGCTTAGAACTTTGTAACTAATGGTGCTAGTTATGTTTCCTTGAGGCTACTCACCTAGGAAGCCCTTGGACACCATCTGTGTCAGCAGTTCTGGGTTTCCACCTCCAAACCGCTCCCCAAAGACTTTGCCCAGATCTTCCGCCACATGTTTCGCTACATCCACACCAACTTCATCCACCAGTGTGGCGGCACCCACAGGAAAGCCAAAGCTTGTGGTCAGGGAATCCAGCTTCTTCGGGTCAACTCCTTCCTGAACAGGAAGCGATGCAGGGACCTCAGGGGAAGGGCAGCCCAAATCCCCCCAAAGGGCTCCCTGTACTGGCTCCAAACACTGCCTTGTGTAAAACCCACTTCTGAGTGTCACCTGACCAGGCCCAGGACTGGTGCTATTTCATTCAGGGAAGCACAAAGAAGTTTGGGGCCACAAGTGGAAAGTCTGAGCCTTCTCTAATCTACAGCACTTTAAGGACGTTTAGAGATGACTAAATTCTTCATTTTCTTCTTGTTTGCATTTCTGAATCTCAATAATAAGGAGATTGCATGACAGACGGCTGAGTGTGTCATGACCAACAGAAGAAACATCATCAAAGAGGAGCACTCAGAGCCCTGTGATCCCCAAGTCTGGGTAAGTGCCCAGCGAGGAGGATCCCTCTCCTTTCCTGCCAGAATGACCTCGATGGCTACTGGAGAGGTCTGTGTGCTGTGGAAACAGATGCAGCACCAGTTGAACCAAGCGGGCCCTGTTCTGGATGGTCCCTGCCTCAGAGAGGTGCAGAAACAGCATAGAAGACATGCTGGGGGGTGGGGTGCCTTTAGCTTGCTGGAACAGTGAGGAGGCTGTGGGGCAGAGGGAAAGCTCTGCCCCTTTCAGTGCAGTATAAGCCCAACTTCCGACTGCTGTGCAGAGAGAGGGCACCAGGGACCTTCCTAGACAAGAGCAGGAGTTGGTGTATCAGAAGGAAGCTTGGTCCTTATCTTGACATCATGAGTTTTAGAGTGACTGAAGGAGTGGAAGATGCCGCAAACACTCTGGAGAGCAATACCAACCTGGAGGATTCGGATGACTTCAGACATCATGGGCGCAAGACACCTGGTAGTATAGAAGCCAGGTCCATCCTGCCAAGGAAGAGAACATGAGCTCCCTGGCCCTGCTGCTGGGACTGAGTCTGAAACACTCTACCTTTCCCAGGGTCACTTCAAAGTCATTTGAAAGTCACTGTAAAACTTAAGGTGACTTAAAATCTCAATCAGAATCCTTAAAAATGAAATTGCAGGGGAAGCCGTACTAGGGGTAGCCTGGCTTGAATCAAACAGTACAGCAGATAGTTTCATGGTCACCTTCAAGGTCTGGGATGGCTGGGAGAACCCTGCCACATCCTAGATACTCCCCACTCCCACCTTGACTCAGTGGGACAGTCAATACCACCGTCCATCCTGGAGACAACCCAGGGGAAAATCATATCAAAGTCTGGTCATTTGCCCCAGAATATTTATAAACAAGCCTGGAGGTAAAAGGAGTCTTATTAGAACTTTTCAAAAACTCTGCAGCTCTGTTATACAGCCCCTTACCTTAACCACAATGATGACCTTCCCCTGCTTGAGACCAACTGCTACAGCTGAAGCACTGGTGTCTTTGGAAGTTTTCTCGGTCGTGATAATCTCCAGCAGCTGCATCTTGTCCACGGGAGAGAAGTAGTGCATGCCAATCACCTGGCAAGGGGAACCAAAAGCCAACAGATCGGAGAATGCGGGTGAGGAACCTGAGAGCATTCCTTCTCTGCTAGGAAAACACTAGAAAGAAAGGTGGCTGTGATATAGGAATACTGCTTGACATAGCTGAGTGGTTTGGTTCCATGGGTCTTTGATAAAAGTTTAGTATGTTTAGGGAGAGCACATTGGAATCCTCCTCTTCCATTTGCTTCTAAGGTTTTTCACTACAGACATCTGATCCTCCCAACAATCAGTGCCAAAACCACAGCTCGAGGCCAAACTAGATTTATTGGGGAACGACGGATGAAGGTTCCACTTATATTAATGATACTGATGGTTTAGATAAGAGGATCCAGTTTTTTTGGGCGGGGGTGGGGCAGGCAGAAGAATTAATGTGTTGGGCTGTCAGAGAAGTATTTGCATTTTACACAGATGGGTCTCACCACCAGGATACTAGGTTTAACTAACACTCCTCAACAGTCAGATGCACTTAAGACTCATTAAACCAGCAGTTCTCCAAGTGTAGTACCCGGACCCAACAAGCACTGTCATCACCTGGGAGCGTTAGGCCTGCACATTCTCAGGCCTAGCCCAGCCCTACTGAATCAGAAACTCCATGGGTGGGGCCCAGATTTGTTTTAATAATCCCTCCTGGTGATTCTGATGCGTGCTAAGGTTTCAGAGAAACCCCTCATTGAGCTAACAGTTACATAGTCTTCCCAACAGAACTGTGGTGAAAGAAGTCTAATTCATTAATTTATAGTTTTGCTTTCTCCCTCTCACTTTAGCTATAAGGTACAACAAGTGATATCTGTAATTTTTGGCTGCTCATTATCTACCTGCTCTTCAATACATTTACCACTTATTCCTTACATTTAATCCATTACAACCCTATGAACTGGTCAGCCTAATTATCTAGATGAGGAAAAAAGGTATCAAGAGGTTAGTAGTACAGAGTCAGTCAGCATATGACGGGGTGGGATTCCATCACAGGTCTGTCTATCTCCAATGCCATTATGTAATACACAGATCAAGTAAATGTTATGTAAACTTATCAATCCAAAAGTTGTTTCTAACCCCTAAAGTGTTCTTTTACTTACATCTGAAATACTTAGGACCTGATTCAGACTCAGTACTCCTGAGCAAAAGGAATTAGCCTTTATTGATGTAGAATTTCTATATAATAAAATGCACAGATCTTGAAGTGTTCACATCAATGAGTTTTGACAACTGTATATACATCCATATAATCACTAACCCAAGCAAAATATATTTACATCACTCAGAAAGTTGTGCCAAAGATGACCAACTCATCCTGGATGGCTGGGGATTTCCCAATTTGTGGCACTGAGGGTCCTGTATCCCTTGCTCCCGGGCAAACCAAGATGGTTGGTCACCCTATTTTGTCTTTTTGGCCTTACTTTTAAATGAATGACAAAAGGCAAGCAGGTGAGAAAAGCTGTCCTAGATACTTGGAGGGCAGAACTGCAAAGTGTGATGCTTGCTCTGCTCCGATGGCGGGGAGAGGTTACCATCAAATGAACAGCAACGGCATCGCCTGTACTGATTTTAGATGCCACACAGATGTCTTGAGTGATATGACATGGCCAGACTGTCCATCTGTAGACTATCGGCTGCAACTTCTCCCTATGACCTTTAGCCTGCCATCATTGAGCCTGCCTCTGTCAGGTCCCCGCATCACTTCTAATCTGCTGTGTGCTAGGAAACTAGATTACCTTGCATTAGCAAGCTAGAAGAGTAGGAATAAATAGGCTTTTGTGTTTTCAGTACATAGAATTTGTATTAACACTTTCAGCTGCTTAAAGTTCTTTTATAATTCCTGCCTACCTTCGGCTGGTTCTGGTTAGCAGAGGCTAACTGGTATCCTCCAGAGAAGTGAGTTGTTTTACTTCTCTTTGAATGATTTCACTTCCCCTTAATTACTCTGGTTGAGAGCAAAAATAAATTTCTGGGCATCATTCCAAATACTCACAGAAAG
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CTTGCTTCTGCACTATTGCAGATTTCATCTCTGGGGGATAAAAATGCTTGTCCATCTGGCATAACTTGGACCAGGTGATGCTAGAGCCCCAGAAGGGTAGAACTCTGCCTTTTGTCCATAATCTATAGTCCTAGCCCTTAGAAGGTTCACATGACATCTTTTTTTTTTTTTTTTTTTGAGAAGGGGCCTCGCCATGTTGCCCAGGCTGGCCTCACACTTCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTAAGCAGCTAAGACCATAAGTGGTTGCTACCGCACCTGACTCATAAAATCATTTTTGAAATCGCCAGTGATAAGGGCTCTGTGTTTAGAAAACTTTCTTCCACGAGGGCTTCTGTAACTCTTTGGTCTCAGGAACTGCTTAGAACTTTGTAACTAATGGTGCTAGTTATGTTTCCTTGAGGCTACTCACCTAGGAAGCCCTTGGACACCATCTGTGTCAGCAGTTCTGGGTTTCCACCTCCAAACCGCTCCCCAAAGACTTTGCCCAGATCTTCCGCCACATGTTTCGCTACATCCACACCAACTTCATCCACCAGTGTGGCGGCACCCACAGGAAAGCCAAAGCTTGTGGTCAGGGAATCCAGCTTCTTCGGGTCAACTCCTTCCTGAACAGGAAGCGATGCAGGGACCTCAGGGGAAGGGCAGCCCAAATCCCCCCAAAGGGCTCCCTGTACTGGCTCCAAACACTGCCTTGTGTAAAACCCACTTCTGAGTGTCACCTGACCAGGCCCAGGACTGGTGCTATTTCATTCAGGGAAGCACAAAGAAGTTTGGGGCCACAAGTGGAAAGTCTGAGCCTTCTCTAATCTACAGCACTTTAAGGACGTTTAGAGATGACTAAATTCTTCATTTTCTTCTTGTTTGCATTTCTGAATCTCAATAATAAGGAGATTGCATGACAGACGGCTGAGTGTGTCATGACCAACAGAAGAAACATCATCAAAGAGGAGCACTCAGAGCCCTGTGATCCCCAAGTCTGGGTAAGTGCCCAGCGAGGAGGATCCCTCTCCTTTCCTGCCAGAATGACCTCGATGGCTACTGGAGAGGTCTGTGTGCTGTGGAAACAGATGCAGCACCAGTTGAACCAAGCGGGCCCTGTTCTGGATGGTCCCTGCCTCAGAGAGGTGCAGAAACAGCATAGAAGACATGCTGGGGGGTGGGGTGCCTTTAGCTTGCTGGAACAGTGAGGAGGCTGTGGGGCAGAGGGAAAGCTCTGCCCCTTTCAGTGCAGTATAAGCCCAACTTCCGACTGCTGTGCAGAGAGAGGGCACCAGGGACCTTCCTAGACAAGAGCAGGAGTTGGTGTATCAGAAGGAAGCTTGGTCCTTATCTTGACATCATGAGTTTTAGAGTGACTGAAGGAGTGGAAGATGCCGCAAACACTCTGGAGAGCAATACCAACCTGGAGGATTCGGATGACTTCAGACATCATGGGCGCAAGACACCTGGTAGTATAGAAGCCAGGTCCATCCTGCCAAGGAAGAGAACATGAGCTCCCTGGCCCTGCTGCTGGGACTGAGTCTGAAACACTCTACCTTTCCCAGGGTCACTTCAAAGTCATTTGAAAGTCACTGTAAAACTTAAGGTGACTTAAAATCTCAATCAGAATCCTTAAAAATGAAATTGCAGGGGAAGCCGTACTAGGGGTAGCCTGGCTTGAATCAAACAGTACAGCAGATAGTTTCATGGTCACCTTCAAGGTCTGGGATGGCTGGGAGAACCCTGCCACATCCTAGATACTCCCCACTCCCACCTTGACTCAGTGGGACAGTCAATACCACCGTCCATCCTGGAGACAACCCAGGGGAAAATCATATCAAAGTCTGGTCATTTGCCCCAGAATATTTATAAACAAGCCTGGAGGTAAAAGGAGTCTTATTAGAACTTTTCAAAAACTCTGCAGCTCTGTTATACAGCCCCTTACCTTAACCACAATGATGACCTTCCCCTGCTTGAGACCAACTGCTACAGCTGAAGCACTGGTGTCTTTGGAAGTTTTCTCGGTCGTGATAATCTGCAGCAGCTGCATCTTGTCCACGGGAGAGAAGTAGTGCATGCCAATCACCTGGCAAGGGGAACCAAAAGCCAACAGATCGGAGAATGCGGGTGAGGAACCTGAGAGCATTCCTTCTCTGCTAGGAAAACACTAGAAAGAAAGGTGGCTGTGATATAGGAATACTGCTTGACATAGCTGAGTGGTTTGGTTCCATGGGTCTTTGATAAAAGTTTAGTATGTTTAGGGAGAGCACATTGGAATCCTCCTCTTCCATTTGCTTCTAAGGTTTTTCACTACAGACATCTGATCCTCCCAACAATCAGTGCCAAAACCACAGCTCGAGGCCAAACTAGATTTATTGGGGAACGACGGATGAAGGTTCCACTTATATTAATGATACTGATGGTTTAGATAAGAGGATCCAGTTTTTTTGGGCGGGGGTGGGGCAGGCAGAAGAATTAATGTGTTGGGCTGTCAGAGAAGTATTTGCATTTTACACAGATGGGTCTCACCACCAGGATACTAGGTTTAACTAACACTCCTCAACAGTCAGATGCACTTAAGACTCATTAAACCAGCAGTTCTCCAAGTGTAGTACCCGGACCCAACAAGCACTGTCATCACCTGGGAGCGTTAGGCCTGCACATTCTCAGGCCTAGCCCAGCCCTACTGAATCAGAAACTCCATGGGTGGGGCCCAGATTTGTTTTAATAATCCCTCCTGGTGATTCTGATGCGTGCTAAGGTTTCAGAGAAACCCCTCATTGAGCTAACAGTTACATAGTCTTCCCAACAGAACTGTGGTGAAAGAAGTCTAATTCATTAATTTATAGTTTTGCTTTCTCCCTCTCACTTTAGCTATAAGGTACAACAAGTGATATCTGTAATTTTTGGCTGCTCATTATCTACCTGCTCTTCAATACATTTACCACTTATTCCTTACATTTAATCCATTACAACCCTATGAACTGGTCAGCCTAATTATCTAGATGAGGAAAAAAGGTATCAAGAGGTTAGTAGTACAGAGTCAGTCAGCATATGACGGGGTGGGATTCCATCACAGGTCTGTCTATCTCCAATGCCATTATGTAATACACAGATCAAGTAAATGTTATGTAAACTTATCAATCCAAAAGTTGTTTCTAACCCCTAAAGTGTTCTTTTACTTACATCTGAAATACTTAGGACCTGATTCAGACTCAGTACTCCTGAGCAAAAGGAATTAGCCTTTATTGATGTAGAATTTCTATATAATAAAATGCACAGATCTTGAAGTGTTCACATCAATGAGTTTTGACAACTGTATATACATCCATATAATCACTAACCCAAGCAAAATATATTTACATCACTCAGAAAGTTGTGCCAAAGATGACCAACTCATCCTGGATGGCTGGGGATTTCCCAATTTGTGGCACTGAGGGTCCTGTATCCCTTGCTCCCGGGCAAACCAAGATGGTTGGTCACCCTATTTTGTCTTTTTGGCCTTACTTTTAAATGAATGACAAAAGGCAAGCAGGTGAGAAAAGCTGTCCTAGATACTTGGAGGGCAGAACTGCAAAGTGTGATGCTTGCTCTGCTCCGATGGCGGGGAGAGGTTACCATCAAATGAACAGCAACGGCATCGCCTGTACTGATTTTAGATGCCACACAGATGTCTTGAGTGATATGACATGGCCAGACTGTCCATCTGTAGACTATCGGCTGCAACTTCTCCCTATGACCTTTAGCCTGCCATCATTGAGCCTGCCTCTGTCAGGTCCCCGCATCACTTCTAATCTGCTGTGTGCTAGGAAACTAGATTACCTTGCATTAGCAAGCTAGAAGAGTAGGAATAAATAGGCTTTTGTGTTTTCAGTACATAGAATTTGTATTAACACTTTCAGCTGCTTAAAGTTCTTTTATAATTCCTGCCTACCTTCGGCTGGTTCTGGTTAGCAGAGGCTAACTGGTATCCTCCAGAGAAGTGAGTTGTTTTACTTCTCTTTGAATGATTTCACTTCCCCTTAATTACTCTGGTTGAGAGCAAAAATAAATTTCTGGGCATCATTCCAAATACTCACAGAAAG
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Task1_train_3173
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A variant was discovered on Chromosome 2, affecting GAREM2, HADHA (GRB2 associated regulator of MAPK1 subtype 2| hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Mitochondrial trifunctional protein deficiency
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CTTGCTTCTGCACTATTGCAGATTTCATCTCTGGGGGATAAAAATGCTTGTCCATCTGGCATAACTTGGACCAGGTGATGCTAGAGCCCCAGAAGGGTAGAACTCTGCCTTTTGTCCATAATCTATAGTCCTAGCCCTTAGAAGGTTCACATGACATCTTTTTTTTTTTTTTTTTTTGAGAAGGGGCCTCGCCATGTTGCCCAGGCTGGCCTCACACTTCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTAAGCAGCTAAGACCATAAGTGGTTGCTACCGCACCTGACTCATAAAATCATTTTTGAAATCGCCAGTGATAAGGGCTCTGTGTTTAGAAAACTTTCTTCCACGAGGGCTTCTGTAACTCTTTGGTCTCAGGAACTGCTTAGAACTTTGTAACTAATGGTGCTAGTTATGTTTCCTTGAGGCTACTCACCTAGGAAGCCCTTGGACACCATCTGTGTCAGCAGTTCTGGGTTTCCACCTCCAAACCGCTCCCCAAAGACTTTGCCCAGATCTTCCGCCACATGTTTCGCTACATCCACACCAACTTCATCCACCAGTGTGGCGGCACCCACAGGAAAGCCAAAGCTTGTGGTCAGGGAATCCAGCTTCTTCGGGTCAACTCCTTCCTGAACAGGAAGCGATGCAGGGACCTCAGGGGAAGGGCAGCCCAAATCCCCCCAAAGGGCTCCCTGTACTGGCTCCAAACACTGCCTTGTGTAAAACCCACTTCTGAGTGTCACCTGACCAGGCCCAGGACTGGTGCTATTTCATTCAGGGAAGCACAAAGAAGTTTGGGGCCACAAGTGGAAAGTCTGAGCCTTCTCTAATCTACAGCACTTTAAGGACGTTTAGAGATGACTAAATTCTTCATTTTCTTCTTGTTTGCATTTCTGAATCTCAATAATAAGGAGATTGCATGACAGACGGCTGAGTGTGTCATGACCAACAGAAGAAACATCATCAAAGAGGAGCACTCAGAGCCCTGTGATCCCCAAGTCTGGGTAAGTGCCCAGCGAGGAGGATCCCTCTCCTTTCCTGCCAGAATGACCTCGATGGCTACTGGAGAGGTCTGTGTGCTGTGGAAACAGATGCAGCACCAGTTGAACCAAGCGGGCCCTGTTCTGGATGGTCCCTGCCTCAGAGAGGTGCAGAAACAGCATAGAAGACATGCTGGGGGGTGGGGTGCCTTTAGCTTGCTGGAACAGTGAGGAGGCTGTGGGGCAGAGGGAAAGCTCTGCCCCTTTCAGTGCAGTATAAGCCCAACTTCCGACTGCTGTGCAGAGAGAGGGCACCAGGGACCTTCCTAGACAAGAGCAGGAGTTGGTGTATCAGAAGGAAGCTTGGTCCTTATCTTGACATCATGAGTTTTAGAGTGACTGAAGGAGTGGAAGATGCCGCAAACACTCTGGAGAGCAATACCAACCTGGAGGATTCGGATGACTTCAGACATCATGGGCGCAAGACACCTGGTAGTATAGAAGCCAGGTCCATCCTGCCAAGGAAGAGAACATGAGCTCCCTGGCCCTGCTGCTGGGACTGAGTCTGAAACACTCTACCTTTCCCAGGGTCACTTCAAAGTCATTTGAAAGTCACTGTAAAACTTAAGGTGACTTAAAATCTCAATCAGAATCCTTAAAAATGAAATTGCAGGGGAAGCCGTACTAGGGGTAGCCTGGCTTGAATCAAACAGTACAGCAGATAGTTTCATGGTCACCTTCAAGGTCTGGGATGGCTGGGAGAACCCTGCCACATCCTAGATACTCCCCACTCCCACCTTGACTCAGTGGGACAGTCAATACCACCGTCCATCCTGGAGACAACCCAGGGGAAAATCATATCAAAGTCTGGTCATTTGCCCCAGAATATTTATAAACAAGCCTGGAGGTAAAAGGAGTCTTATTAGAACTTTTCAAAAACTCTGCAGCTCTGTTATACAGCCCCTTACCTTAACCACAATGATGACCTTCCCCTGCTTGAGACCAACTGCTACAGCTGAAGCACTGGTGTCTTTGGAAGTTTTCTCGGTCGTGATAATCTCCAGCAGCTGCATCTTGTCCACGGGAGAGAAGTAGTGCATGCCAATCACCTGGCAAGGGGAACCAAAAGCCAACAGATCGGAGAATGCGGGTGAGGAACCTGAGAGCATTCCTTCTCTGCTAGGAAAACACTAGAAAGAAAGGTGGCTGTGATATAGGAATACTGCTTGACATAGCTGAGTGGTTTGGTTCCATGGGTCTTTGATAAAAGTTTAGTATGTTTAGGGAGAGCACATTGGAATCCTCCTCTTCCATTTGCTTCTAAGGTTTTTCACTACAGACATCTGATCCTCCCAACAATCAGTGCCAAAACCACAGCTCGAGGCCAAACTAGATTTATTGGGGAACGACGGATGAAGGTTCCACTTATATTAATGATACTGATGGTTTAGATAAGAGGATCCAGTTTTTTTGGGCGGGGGTGGGGCAGGCAGAAGAATTAATGTGTTGGGCTGTCAGAGAAGTATTTGCATTTTACACAGATGGGTCTCACCACCAGGATACTAGGTTTAACTAACACTCCTCAACAGTCAGATGCACTTAAGACTCATTAAACCAGCAGTTCTCCAAGTGTAGTACCCGGACCCAACAAGCACTGTCATCACCTGGGAGCGTTAGGCCTGCACATTCTCAGGCCTAGCCCAGCCCTACTGAATCAGAAACTCCATGGGTGGGGCCCAGATTTGTTTTAATAATCCCTCCTGGTGATTCTGATGCGTGCTAAGGTTTCAGAGAAACCCCTCATTGAGCTAACAGTTACATAGTCTTCCCAACAGAACTGTGGTGAAAGAAGTCTAATTCATTAATTTATAGTTTTGCTTTCTCCCTCTCACTTTAGCTATAAGGTACAACAAGTGATATCTGTAATTTTTGGCTGCTCATTATCTACCTGCTCTTCAATACATTTACCACTTATTCCTTACATTTAATCCATTACAACCCTATGAACTGGTCAGCCTAATTATCTAGATGAGGAAAAAAGGTATCAAGAGGTTAGTAGTACAGAGTCAGTCAGCATATGACGGGGTGGGATTCCATCACAGGTCTGTCTATCTCCAATGCCATTATGTAATACACAGATCAAGTAAATGTTATGTAAACTTATCAATCCAAAAGTTGTTTCTAACCCCTAAAGTGTTCTTTTACTTACATCTGAAATACTTAGGACCTGATTCAGACTCAGTACTCCTGAGCAAAAGGAATTAGCCTTTATTGATGTAGAATTTCTATATAATAAAATGCACAGATCTTGAAGTGTTCACATCAATGAGTTTTGACAACTGTATATACATCCATATAATCACTAACCCAAGCAAAATATATTTACATCACTCAGAAAGTTGTGCCAAAGATGACCAACTCATCCTGGATGGCTGGGGATTTCCCAATTTGTGGCACTGAGGGTCCTGTATCCCTTGCTCCCGGGCAAACCAAGATGGTTGGTCACCCTATTTTGTCTTTTTGGCCTTACTTTTAAATGAATGACAAAAGGCAAGCAGGTGAGAAAAGCTGTCCTAGATACTTGGAGGGCAGAACTGCAAAGTGTGATGCTTGCTCTGCTCCGATGGCGGGGAGAGGTTACCATCAAATGAACAGCAACGGCATCGCCTGTACTGATTTTAGATGCCACACAGATGTCTTGAGTGATATGACATGGCCAGACTGTCCATCTGTAGACTATCGGCTGCAACTTCTCCCTATGACCTTTAGCCTGCCATCATTGAGCCTGCCTCTGTCAGGTCCCCGCATCACTTCTAATCTGCTGTGTGCTAGGAAACTAGATTACCTTGCATTAGCAAGCTAGAAGAGTAGGAATAAATAGGCTTTTGTGTTTTCAGTACATAGAATTTGTATTAACACTTTCAGCTGCTTAAAGTTCTTTTATAATTCCTGCCTACCTTCGGCTGGTTCTGGTTAGCAGAGGCTAACTGGTATCCTCCAGAGAAGTGAGTTGTTTTACTTCTCTTTGAATGATTTCACTTCCCCTTAATTACTCTGGTTGAGAGCAAAAATAAATTTCTGGGCATCATTCCAAATACTCACAGAAAG
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CTTGCTTCTGCACTATTGCAGATTTCATCTCTGGGGGATAAAAATGCTTGTCCATCTGGCATAACTTGGACCAGGTGATGCTAGAGCCCCAGAAGGGTAGAACTCTGCCTTTTGTCCATAATCTATAGTCCTAGCCCTTAGAAGGTTCACATGACATCTTTTTTTTTTTTTTTTTTTGAGAAGGGGCCTCGCCATGTTGCCCAGGCTGGCCTCACACTTCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTAAGCAGCTAAGACCATAAGTGGTTGCTACCGCACCTGACTCATAAAATCATTTTTGAAATCGCCAGTGATAAGGGCTCTGTGTTTAGAAAACTTTCTTCCACGAGGGCTTCTGTAACTCTTTGGTCTCAGGAACTGCTTAGAACTTTGTAACTAATGGTGCTAGTTATGTTTCCTTGAGGCTACTCACCTAGGAAGCCCTTGGACACCATCTGTGTCAGCAGTTCTGGGTTTCCACCTCCAAACCGCTCCCCAAAGACTTTGCCCAGATCTTCCGCCACATGTTTCGCTACATCCACACCAACTTCATCCACCAGTGTGGCGGCACCCACAGGAAAGCCAAAGCTTGTGGTCAGGGAATCCAGCTTCTTCGGGTCAACTCCTTCCTGAACAGGAAGCGATGCAGGGACCTCAGGGGAAGGGCAGCCCAAATCCCCCCAAAGGGCTCCCTGTACTGGCTCCAAACACTGCCTTGTGTAAAACCCACTTCTGAGTGTCACCTGACCAGGCCCAGGACTGGTGCTATTTCATTCAGGGAAGCACAAAGAAGTTTGGGGCCACAAGTGGAAAGTCTGAGCCTTCTCTAATCTACAGCACTTTAAGGACGTTTAGAGATGACTAAATTCTTCATTTTCTTCTTGTTTGCATTTCTGAATCTCAATAATAAGGAGATTGCATGACAGACGGCTGAGTGTGTCATGACCAACAGAAGAAACATCATCAAAGAGGAGCACTCAGAGCCCTGTGATCCCCAAGTCTGGGTAAGTGCCCAGCGAGGAGGATCCCTCTCCTTTCCTGCCAGAATGACCTCGATGGCTACTGGAGAGGTCTGTGTGCTGTGGAAACAGATGCAGCACCAGTTGAACCAAGCGGGCCCTGTTCTGGATGGTCCCTGCCTCAGAGAGGTGCAGAAACAGCATAGAAGACATGCTGGGGGGTGGGGTGCCTTTAGCTTGCTGGAACAGTGAGGAGGCTGTGGGGCAGAGGGAAAGCTCTGCCCCTTTCAGTGCAGTATAAGCCCAACTTCCGACTGCTGTGCAGAGAGAGGGCACCAGGGACCTTCCTAGACAAGAGCAGGAGTTGGTGTATCAGAAGGAAGCTTGGTCCTTATCTTGACATCATGAGTTTTAGAGTGACTGAAGGAGTGGAAGATGCCGCAAACACTCTGGAGAGCAATACCAACCTGGAGGATTCGGATGACTTCAGACATCATGGGCGCAAGACACCTGGTAGTATAGAAGCCAGGTCCATCCTGCCAAGGAAGAGAACATGAGCTCCCTGGCCCTGCTGCTGGGACTGAGTCTGAAACACTCTACCTTTCCCAGGGTCACTTCAAAGTCATTTGAAAGTCACTGTAAAACTTAAGGTGACTTAAAATCTCAATCAGAATCCTTAAAAATGAAATTGCAGGGGAAGCCGTACTAGGGGTAGCCTGGCTTGAATCAAACAGTACAGCAGATAGTTTCATGGTCACCTTCAAGGTCTGGGATGGCTGGGAGAACCCTGCCACATCCTAGATACTCCCCACTCCCACCTTGACTCAGTGGGACAGTCAATACCACCGTCCATCCTGGAGACAACCCAGGGGAAAATCATATCAAAGTCTGGTCATTTGCCCCAGAATATTTATAAACAAGCCTGGAGGTAAAAGGAGTCTTATTAGAACTTTTCAAAAACTCTGCAGCTCTGTTATACAGCCCCTTACCTTAACCACAATGATGACCTTCCCCTGCTTGAGACCAACTGCTACAGCTGAAGCACTGGTGTCTTTGGAAGTTTTCTCGGTCGTGATAATCTGCAGCAGCTGCATCTTGTCCACGGGAGAGAAGTAGTGCATGCCAATCACCTGGCAAGGGGAACCAAAAGCCAACAGATCGGAGAATGCGGGTGAGGAACCTGAGAGCATTCCTTCTCTGCTAGGAAAACACTAGAAAGAAAGGTGGCTGTGATATAGGAATACTGCTTGACATAGCTGAGTGGTTTGGTTCCATGGGTCTTTGATAAAAGTTTAGTATGTTTAGGGAGAGCACATTGGAATCCTCCTCTTCCATTTGCTTCTAAGGTTTTTCACTACAGACATCTGATCCTCCCAACAATCAGTGCCAAAACCACAGCTCGAGGCCAAACTAGATTTATTGGGGAACGACGGATGAAGGTTCCACTTATATTAATGATACTGATGGTTTAGATAAGAGGATCCAGTTTTTTTGGGCGGGGGTGGGGCAGGCAGAAGAATTAATGTGTTGGGCTGTCAGAGAAGTATTTGCATTTTACACAGATGGGTCTCACCACCAGGATACTAGGTTTAACTAACACTCCTCAACAGTCAGATGCACTTAAGACTCATTAAACCAGCAGTTCTCCAAGTGTAGTACCCGGACCCAACAAGCACTGTCATCACCTGGGAGCGTTAGGCCTGCACATTCTCAGGCCTAGCCCAGCCCTACTGAATCAGAAACTCCATGGGTGGGGCCCAGATTTGTTTTAATAATCCCTCCTGGTGATTCTGATGCGTGCTAAGGTTTCAGAGAAACCCCTCATTGAGCTAACAGTTACATAGTCTTCCCAACAGAACTGTGGTGAAAGAAGTCTAATTCATTAATTTATAGTTTTGCTTTCTCCCTCTCACTTTAGCTATAAGGTACAACAAGTGATATCTGTAATTTTTGGCTGCTCATTATCTACCTGCTCTTCAATACATTTACCACTTATTCCTTACATTTAATCCATTACAACCCTATGAACTGGTCAGCCTAATTATCTAGATGAGGAAAAAAGGTATCAAGAGGTTAGTAGTACAGAGTCAGTCAGCATATGACGGGGTGGGATTCCATCACAGGTCTGTCTATCTCCAATGCCATTATGTAATACACAGATCAAGTAAATGTTATGTAAACTTATCAATCCAAAAGTTGTTTCTAACCCCTAAAGTGTTCTTTTACTTACATCTGAAATACTTAGGACCTGATTCAGACTCAGTACTCCTGAGCAAAAGGAATTAGCCTTTATTGATGTAGAATTTCTATATAATAAAATGCACAGATCTTGAAGTGTTCACATCAATGAGTTTTGACAACTGTATATACATCCATATAATCACTAACCCAAGCAAAATATATTTACATCACTCAGAAAGTTGTGCCAAAGATGACCAACTCATCCTGGATGGCTGGGGATTTCCCAATTTGTGGCACTGAGGGTCCTGTATCCCTTGCTCCCGGGCAAACCAAGATGGTTGGTCACCCTATTTTGTCTTTTTGGCCTTACTTTTAAATGAATGACAAAAGGCAAGCAGGTGAGAAAAGCTGTCCTAGATACTTGGAGGGCAGAACTGCAAAGTGTGATGCTTGCTCTGCTCCGATGGCGGGGAGAGGTTACCATCAAATGAACAGCAACGGCATCGCCTGTACTGATTTTAGATGCCACACAGATGTCTTGAGTGATATGACATGGCCAGACTGTCCATCTGTAGACTATCGGCTGCAACTTCTCCCTATGACCTTTAGCCTGCCATCATTGAGCCTGCCTCTGTCAGGTCCCCGCATCACTTCTAATCTGCTGTGTGCTAGGAAACTAGATTACCTTGCATTAGCAAGCTAGAAGAGTAGGAATAAATAGGCTTTTGTGTTTTCAGTACATAGAATTTGTATTAACACTTTCAGCTGCTTAAAGTTCTTTTATAATTCCTGCCTACCTTCGGCTGGTTCTGGTTAGCAGAGGCTAACTGGTATCCTCCAGAGAAGTGAGTTGTTTTACTTCTCTTTGAATGATTTCACTTCCCCTTAATTACTCTGGTTGAGAGCAAAAATAAATTTCTGGGCATCATTCCAAATACTCACAGAAAG
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Task1_train_3174
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Mutation context: Chromosome 2, Gene GAREM2, HADHA (GRB2 associated regulator of MAPK1 subtype 2| hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
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CTTGCTTCTGCACTATTGCAGATTTCATCTCTGGGGGATAAAAATGCTTGTCCATCTGGCATAACTTGGACCAGGTGATGCTAGAGCCCCAGAAGGGTAGAACTCTGCCTTTTGTCCATAATCTATAGTCCTAGCCCTTAGAAGGTTCACATGACATCTTTTTTTTTTTTTTTTTTTGAGAAGGGGCCTCGCCATGTTGCCCAGGCTGGCCTCACACTTCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTAAGCAGCTAAGACCATAAGTGGTTGCTACCGCACCTGACTCATAAAATCATTTTTGAAATCGCCAGTGATAAGGGCTCTGTGTTTAGAAAACTTTCTTCCACGAGGGCTTCTGTAACTCTTTGGTCTCAGGAACTGCTTAGAACTTTGTAACTAATGGTGCTAGTTATGTTTCCTTGAGGCTACTCACCTAGGAAGCCCTTGGACACCATCTGTGTCAGCAGTTCTGGGTTTCCACCTCCAAACCGCTCCCCAAAGACTTTGCCCAGATCTTCCGCCACATGTTTCGCTACATCCACACCAACTTCATCCACCAGTGTGGCGGCACCCACAGGAAAGCCAAAGCTTGTGGTCAGGGAATCCAGCTTCTTCGGGTCAACTCCTTCCTGAACAGGAAGCGATGCAGGGACCTCAGGGGAAGGGCAGCCCAAATCCCCCCAAAGGGCTCCCTGTACTGGCTCCAAACACTGCCTTGTGTAAAACCCACTTCTGAGTGTCACCTGACCAGGCCCAGGACTGGTGCTATTTCATTCAGGGAAGCACAAAGAAGTTTGGGGCCACAAGTGGAAAGTCTGAGCCTTCTCTAATCTACAGCACTTTAAGGACGTTTAGAGATGACTAAATTCTTCATTTTCTTCTTGTTTGCATTTCTGAATCTCAATAATAAGGAGATTGCATGACAGACGGCTGAGTGTGTCATGACCAACAGAAGAAACATCATCAAAGAGGAGCACTCAGAGCCCTGTGATCCCCAAGTCTGGGTAAGTGCCCAGCGAGGAGGATCCCTCTCCTTTCCTGCCAGAATGACCTCGATGGCTACTGGAGAGGTCTGTGTGCTGTGGAAACAGATGCAGCACCAGTTGAACCAAGCGGGCCCTGTTCTGGATGGTCCCTGCCTCAGAGAGGTGCAGAAACAGCATAGAAGACATGCTGGGGGGTGGGGTGCCTTTAGCTTGCTGGAACAGTGAGGAGGCTGTGGGGCAGAGGGAAAGCTCTGCCCCTTTCAGTGCAGTATAAGCCCAACTTCCGACTGCTGTGCAGAGAGAGGGCACCAGGGACCTTCCTAGACAAGAGCAGGAGTTGGTGTATCAGAAGGAAGCTTGGTCCTTATCTTGACATCATGAGTTTTAGAGTGACTGAAGGAGTGGAAGATGCCGCAAACACTCTGGAGAGCAATACCAACCTGGAGGATTCGGATGACTTCAGACATCATGGGCGCAAGACACCTGGTAGTATAGAAGCCAGGTCCATCCTGCCAAGGAAGAGAACATGAGCTCCCTGGCCCTGCTGCTGGGACTGAGTCTGAAACACTCTACCTTTCCCAGGGTCACTTCAAAGTCATTTGAAAGTCACTGTAAAACTTAAGGTGACTTAAAATCTCAATCAGAATCCTTAAAAATGAAATTGCAGGGGAAGCCGTACTAGGGGTAGCCTGGCTTGAATCAAACAGTACAGCAGATAGTTTCATGGTCACCTTCAAGGTCTGGGATGGCTGGGAGAACCCTGCCACATCCTAGATACTCCCCACTCCCACCTTGACTCAGTGGGACAGTCAATACCACCGTCCATCCTGGAGACAACCCAGGGGAAAATCATATCAAAGTCTGGTCATTTGCCCCAGAATATTTATAAACAAGCCTGGAGGTAAAAGGAGTCTTATTAGAACTTTTCAAAAACTCTGCAGCTCTGTTATACAGCCCCTTACCTTAACCACAATGATGACCTTCCCCTGCTTGAGACCAACTGCTACAGCTGAAGCACTGGTGTCTTTGGAAGTTTTCTCGGTCGTGATAATCTCCAGCAGCTGCATCTTGTCCACGGGAGAGAAGTAGTGCATGCCAATCACCTGGCAAGGGGAACCAAAAGCCAACAGATCGGAGAATGCGGGTGAGGAACCTGAGAGCATTCCTTCTCTGCTAGGAAAACACTAGAAAGAAAGGTGGCTGTGATATAGGAATACTGCTTGACATAGCTGAGTGGTTTGGTTCCATGGGTCTTTGATAAAAGTTTAGTATGTTTAGGGAGAGCACATTGGAATCCTCCTCTTCCATTTGCTTCTAAGGTTTTTCACTACAGACATCTGATCCTCCCAACAATCAGTGCCAAAACCACAGCTCGAGGCCAAACTAGATTTATTGGGGAACGACGGATGAAGGTTCCACTTATATTAATGATACTGATGGTTTAGATAAGAGGATCCAGTTTTTTTGGGCGGGGGTGGGGCAGGCAGAAGAATTAATGTGTTGGGCTGTCAGAGAAGTATTTGCATTTTACACAGATGGGTCTCACCACCAGGATACTAGGTTTAACTAACACTCCTCAACAGTCAGATGCACTTAAGACTCATTAAACCAGCAGTTCTCCAAGTGTAGTACCCGGACCCAACAAGCACTGTCATCACCTGGGAGCGTTAGGCCTGCACATTCTCAGGCCTAGCCCAGCCCTACTGAATCAGAAACTCCATGGGTGGGGCCCAGATTTGTTTTAATAATCCCTCCTGGTGATTCTGATGCGTGCTAAGGTTTCAGAGAAACCCCTCATTGAGCTAACAGTTACATAGTCTTCCCAACAGAACTGTGGTGAAAGAAGTCTAATTCATTAATTTATAGTTTTGCTTTCTCCCTCTCACTTTAGCTATAAGGTACAACAAGTGATATCTGTAATTTTTGGCTGCTCATTATCTACCTGCTCTTCAATACATTTACCACTTATTCCTTACATTTAATCCATTACAACCCTATGAACTGGTCAGCCTAATTATCTAGATGAGGAAAAAAGGTATCAAGAGGTTAGTAGTACAGAGTCAGTCAGCATATGACGGGGTGGGATTCCATCACAGGTCTGTCTATCTCCAATGCCATTATGTAATACACAGATCAAGTAAATGTTATGTAAACTTATCAATCCAAAAGTTGTTTCTAACCCCTAAAGTGTTCTTTTACTTACATCTGAAATACTTAGGACCTGATTCAGACTCAGTACTCCTGAGCAAAAGGAATTAGCCTTTATTGATGTAGAATTTCTATATAATAAAATGCACAGATCTTGAAGTGTTCACATCAATGAGTTTTGACAACTGTATATACATCCATATAATCACTAACCCAAGCAAAATATATTTACATCACTCAGAAAGTTGTGCCAAAGATGACCAACTCATCCTGGATGGCTGGGGATTTCCCAATTTGTGGCACTGAGGGTCCTGTATCCCTTGCTCCCGGGCAAACCAAGATGGTTGGTCACCCTATTTTGTCTTTTTGGCCTTACTTTTAAATGAATGACAAAAGGCAAGCAGGTGAGAAAAGCTGTCCTAGATACTTGGAGGGCAGAACTGCAAAGTGTGATGCTTGCTCTGCTCCGATGGCGGGGAGAGGTTACCATCAAATGAACAGCAACGGCATCGCCTGTACTGATTTTAGATGCCACACAGATGTCTTGAGTGATATGACATGGCCAGACTGTCCATCTGTAGACTATCGGCTGCAACTTCTCCCTATGACCTTTAGCCTGCCATCATTGAGCCTGCCTCTGTCAGGTCCCCGCATCACTTCTAATCTGCTGTGTGCTAGGAAACTAGATTACCTTGCATTAGCAAGCTAGAAGAGTAGGAATAAATAGGCTTTTGTGTTTTCAGTACATAGAATTTGTATTAACACTTTCAGCTGCTTAAAGTTCTTTTATAATTCCTGCCTACCTTCGGCTGGTTCTGGTTAGCAGAGGCTAACTGGTATCCTCCAGAGAAGTGAGTTGTTTTACTTCTCTTTGAATGATTTCACTTCCCCTTAATTACTCTGGTTGAGAGCAAAAATAAATTTCTGGGCATCATTCCAAATACTCACAGAAAG
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CTTGCTTCTGCACTATTGCAGATTTCATCTCTGGGGGATAAAAATGCTTGTCCATCTGGCATAACTTGGACCAGGTGATGCTAGAGCCCCAGAAGGGTAGAACTCTGCCTTTTGTCCATAATCTATAGTCCTAGCCCTTAGAAGGTTCACATGACATCTTTTTTTTTTTTTTTTTTTGAGAAGGGGCCTCGCCATGTTGCCCAGGCTGGCCTCACACTTCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTAAGCAGCTAAGACCATAAGTGGTTGCTACCGCACCTGACTCATAAAATCATTTTTGAAATCGCCAGTGATAAGGGCTCTGTGTTTAGAAAACTTTCTTCCACGAGGGCTTCTGTAACTCTTTGGTCTCAGGAACTGCTTAGAACTTTGTAACTAATGGTGCTAGTTATGTTTCCTTGAGGCTACTCACCTAGGAAGCCCTTGGACACCATCTGTGTCAGCAGTTCTGGGTTTCCACCTCCAAACCGCTCCCCAAAGACTTTGCCCAGATCTTCCGCCACATGTTTCGCTACATCCACACCAACTTCATCCACCAGTGTGGCGGCACCCACAGGAAAGCCAAAGCTTGTGGTCAGGGAATCCAGCTTCTTCGGGTCAACTCCTTCCTGAACAGGAAGCGATGCAGGGACCTCAGGGGAAGGGCAGCCCAAATCCCCCCAAAGGGCTCCCTGTACTGGCTCCAAACACTGCCTTGTGTAAAACCCACTTCTGAGTGTCACCTGACCAGGCCCAGGACTGGTGCTATTTCATTCAGGGAAGCACAAAGAAGTTTGGGGCCACAAGTGGAAAGTCTGAGCCTTCTCTAATCTACAGCACTTTAAGGACGTTTAGAGATGACTAAATTCTTCATTTTCTTCTTGTTTGCATTTCTGAATCTCAATAATAAGGAGATTGCATGACAGACGGCTGAGTGTGTCATGACCAACAGAAGAAACATCATCAAAGAGGAGCACTCAGAGCCCTGTGATCCCCAAGTCTGGGTAAGTGCCCAGCGAGGAGGATCCCTCTCCTTTCCTGCCAGAATGACCTCGATGGCTACTGGAGAGGTCTGTGTGCTGTGGAAACAGATGCAGCACCAGTTGAACCAAGCGGGCCCTGTTCTGGATGGTCCCTGCCTCAGAGAGGTGCAGAAACAGCATAGAAGACATGCTGGGGGGTGGGGTGCCTTTAGCTTGCTGGAACAGTGAGGAGGCTGTGGGGCAGAGGGAAAGCTCTGCCCCTTTCAGTGCAGTATAAGCCCAACTTCCGACTGCTGTGCAGAGAGAGGGCACCAGGGACCTTCCTAGACAAGAGCAGGAGTTGGTGTATCAGAAGGAAGCTTGGTCCTTATCTTGACATCATGAGTTTTAGAGTGACTGAAGGAGTGGAAGATGCCGCAAACACTCTGGAGAGCAATACCAACCTGGAGGATTCGGATGACTTCAGACATCATGGGCGCAAGACACCTGGTAGTATAGAAGCCAGGTCCATCCTGCCAAGGAAGAGAACATGAGCTCCCTGGCCCTGCTGCTGGGACTGAGTCTGAAACACTCTACCTTTCCCAGGGTCACTTCAAAGTCATTTGAAAGTCACTGTAAAACTTAAGGTGACTTAAAATCTCAATCAGAATCCTTAAAAATGAAATTGCAGGGGAAGCCGTACTAGGGGTAGCCTGGCTTGAATCAAACAGTACAGCAGATAGTTTCATGGTCACCTTCAAGGTCTGGGATGGCTGGGAGAACCCTGCCACATCCTAGATACTCCCCACTCCCACCTTGACTCAGTGGGACAGTCAATACCACCGTCCATCCTGGAGACAACCCAGGGGAAAATCATATCAAAGTCTGGTCATTTGCCCCAGAATATTTATAAACAAGCCTGGAGGTAAAAGGAGTCTTATTAGAACTTTTCAAAAACTCTGCAGCTCTGTTATACAGCCCCTTACCTTAACCACAATGATGACCTTCCCCTGCTTGAGACCAACTGCTACAGCTGAAGCACTGGTGTCTTTGGAAGTTTTCTCGGTCGTGATAATCTGCAGCAGCTGCATCTTGTCCACGGGAGAGAAGTAGTGCATGCCAATCACCTGGCAAGGGGAACCAAAAGCCAACAGATCGGAGAATGCGGGTGAGGAACCTGAGAGCATTCCTTCTCTGCTAGGAAAACACTAGAAAGAAAGGTGGCTGTGATATAGGAATACTGCTTGACATAGCTGAGTGGTTTGGTTCCATGGGTCTTTGATAAAAGTTTAGTATGTTTAGGGAGAGCACATTGGAATCCTCCTCTTCCATTTGCTTCTAAGGTTTTTCACTACAGACATCTGATCCTCCCAACAATCAGTGCCAAAACCACAGCTCGAGGCCAAACTAGATTTATTGGGGAACGACGGATGAAGGTTCCACTTATATTAATGATACTGATGGTTTAGATAAGAGGATCCAGTTTTTTTGGGCGGGGGTGGGGCAGGCAGAAGAATTAATGTGTTGGGCTGTCAGAGAAGTATTTGCATTTTACACAGATGGGTCTCACCACCAGGATACTAGGTTTAACTAACACTCCTCAACAGTCAGATGCACTTAAGACTCATTAAACCAGCAGTTCTCCAAGTGTAGTACCCGGACCCAACAAGCACTGTCATCACCTGGGAGCGTTAGGCCTGCACATTCTCAGGCCTAGCCCAGCCCTACTGAATCAGAAACTCCATGGGTGGGGCCCAGATTTGTTTTAATAATCCCTCCTGGTGATTCTGATGCGTGCTAAGGTTTCAGAGAAACCCCTCATTGAGCTAACAGTTACATAGTCTTCCCAACAGAACTGTGGTGAAAGAAGTCTAATTCATTAATTTATAGTTTTGCTTTCTCCCTCTCACTTTAGCTATAAGGTACAACAAGTGATATCTGTAATTTTTGGCTGCTCATTATCTACCTGCTCTTCAATACATTTACCACTTATTCCTTACATTTAATCCATTACAACCCTATGAACTGGTCAGCCTAATTATCTAGATGAGGAAAAAAGGTATCAAGAGGTTAGTAGTACAGAGTCAGTCAGCATATGACGGGGTGGGATTCCATCACAGGTCTGTCTATCTCCAATGCCATTATGTAATACACAGATCAAGTAAATGTTATGTAAACTTATCAATCCAAAAGTTGTTTCTAACCCCTAAAGTGTTCTTTTACTTACATCTGAAATACTTAGGACCTGATTCAGACTCAGTACTCCTGAGCAAAAGGAATTAGCCTTTATTGATGTAGAATTTCTATATAATAAAATGCACAGATCTTGAAGTGTTCACATCAATGAGTTTTGACAACTGTATATACATCCATATAATCACTAACCCAAGCAAAATATATTTACATCACTCAGAAAGTTGTGCCAAAGATGACCAACTCATCCTGGATGGCTGGGGATTTCCCAATTTGTGGCACTGAGGGTCCTGTATCCCTTGCTCCCGGGCAAACCAAGATGGTTGGTCACCCTATTTTGTCTTTTTGGCCTTACTTTTAAATGAATGACAAAAGGCAAGCAGGTGAGAAAAGCTGTCCTAGATACTTGGAGGGCAGAACTGCAAAGTGTGATGCTTGCTCTGCTCCGATGGCGGGGAGAGGTTACCATCAAATGAACAGCAACGGCATCGCCTGTACTGATTTTAGATGCCACACAGATGTCTTGAGTGATATGACATGGCCAGACTGTCCATCTGTAGACTATCGGCTGCAACTTCTCCCTATGACCTTTAGCCTGCCATCATTGAGCCTGCCTCTGTCAGGTCCCCGCATCACTTCTAATCTGCTGTGTGCTAGGAAACTAGATTACCTTGCATTAGCAAGCTAGAAGAGTAGGAATAAATAGGCTTTTGTGTTTTCAGTACATAGAATTTGTATTAACACTTTCAGCTGCTTAAAGTTCTTTTATAATTCCTGCCTACCTTCGGCTGGTTCTGGTTAGCAGAGGCTAACTGGTATCCTCCAGAGAAGTGAGTTGTTTTACTTCTCTTTGAATGATTTCACTTCCCCTTAATTACTCTGGTTGAGAGCAAAAATAAATTTCTGGGCATCATTCCAAATACTCACAGAAAG
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Task1_train_3175
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The gene GAREM2, HADHA (GRB2 associated regulator of MAPK1 subtype 2| hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha) on Chromosome 2 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Mitochondrial trifunctional protein deficiency
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CTTGCTTCTGCACTATTGCAGATTTCATCTCTGGGGGATAAAAATGCTTGTCCATCTGGCATAACTTGGACCAGGTGATGCTAGAGCCCCAGAAGGGTAGAACTCTGCCTTTTGTCCATAATCTATAGTCCTAGCCCTTAGAAGGTTCACATGACATCTTTTTTTTTTTTTTTTTTTGAGAAGGGGCCTCGCCATGTTGCCCAGGCTGGCCTCACACTTCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTAAGCAGCTAAGACCATAAGTGGTTGCTACCGCACCTGACTCATAAAATCATTTTTGAAATCGCCAGTGATAAGGGCTCTGTGTTTAGAAAACTTTCTTCCACGAGGGCTTCTGTAACTCTTTGGTCTCAGGAACTGCTTAGAACTTTGTAACTAATGGTGCTAGTTATGTTTCCTTGAGGCTACTCACCTAGGAAGCCCTTGGACACCATCTGTGTCAGCAGTTCTGGGTTTCCACCTCCAAACCGCTCCCCAAAGACTTTGCCCAGATCTTCCGCCACATGTTTCGCTACATCCACACCAACTTCATCCACCAGTGTGGCGGCACCCACAGGAAAGCCAAAGCTTGTGGTCAGGGAATCCAGCTTCTTCGGGTCAACTCCTTCCTGAACAGGAAGCGATGCAGGGACCTCAGGGGAAGGGCAGCCCAAATCCCCCCAAAGGGCTCCCTGTACTGGCTCCAAACACTGCCTTGTGTAAAACCCACTTCTGAGTGTCACCTGACCAGGCCCAGGACTGGTGCTATTTCATTCAGGGAAGCACAAAGAAGTTTGGGGCCACAAGTGGAAAGTCTGAGCCTTCTCTAATCTACAGCACTTTAAGGACGTTTAGAGATGACTAAATTCTTCATTTTCTTCTTGTTTGCATTTCTGAATCTCAATAATAAGGAGATTGCATGACAGACGGCTGAGTGTGTCATGACCAACAGAAGAAACATCATCAAAGAGGAGCACTCAGAGCCCTGTGATCCCCAAGTCTGGGTAAGTGCCCAGCGAGGAGGATCCCTCTCCTTTCCTGCCAGAATGACCTCGATGGCTACTGGAGAGGTCTGTGTGCTGTGGAAACAGATGCAGCACCAGTTGAACCAAGCGGGCCCTGTTCTGGATGGTCCCTGCCTCAGAGAGGTGCAGAAACAGCATAGAAGACATGCTGGGGGGTGGGGTGCCTTTAGCTTGCTGGAACAGTGAGGAGGCTGTGGGGCAGAGGGAAAGCTCTGCCCCTTTCAGTGCAGTATAAGCCCAACTTCCGACTGCTGTGCAGAGAGAGGGCACCAGGGACCTTCCTAGACAAGAGCAGGAGTTGGTGTATCAGAAGGAAGCTTGGTCCTTATCTTGACATCATGAGTTTTAGAGTGACTGAAGGAGTGGAAGATGCCGCAAACACTCTGGAGAGCAATACCAACCTGGAGGATTCGGATGACTTCAGACATCATGGGCGCAAGACACCTGGTAGTATAGAAGCCAGGTCCATCCTGCCAAGGAAGAGAACATGAGCTCCCTGGCCCTGCTGCTGGGACTGAGTCTGAAACACTCTACCTTTCCCAGGGTCACTTCAAAGTCATTTGAAAGTCACTGTAAAACTTAAGGTGACTTAAAATCTCAATCAGAATCCTTAAAAATGAAATTGCAGGGGAAGCCGTACTAGGGGTAGCCTGGCTTGAATCAAACAGTACAGCAGATAGTTTCATGGTCACCTTCAAGGTCTGGGATGGCTGGGAGAACCCTGCCACATCCTAGATACTCCCCACTCCCACCTTGACTCAGTGGGACAGTCAATACCACCGTCCATCCTGGAGACAACCCAGGGGAAAATCATATCAAAGTCTGGTCATTTGCCCCAGAATATTTATAAACAAGCCTGGAGGTAAAAGGAGTCTTATTAGAACTTTTCAAAAACTCTGCAGCTCTGTTATACAGCCCCTTACCTTAACCACAATGATGACCTTCCCCTGCTTGAGACCAACTGCTACAGCTGAAGCACTGGTGTCTTTGGAAGTTTTCTCGGTCGTGATAATCTCCAGCAGCTGCATCTTGTCCACGGGAGAGAAGTAGTGCATGCCAATCACCTGGCAAGGGGAACCAAAAGCCAACAGATCGGAGAATGCGGGTGAGGAACCTGAGAGCATTCCTTCTCTGCTAGGAAAACACTAGAAAGAAAGGTGGCTGTGATATAGGAATACTGCTTGACATAGCTGAGTGGTTTGGTTCCATGGGTCTTTGATAAAAGTTTAGTATGTTTAGGGAGAGCACATTGGAATCCTCCTCTTCCATTTGCTTCTAAGGTTTTTCACTACAGACATCTGATCCTCCCAACAATCAGTGCCAAAACCACAGCTCGAGGCCAAACTAGATTTATTGGGGAACGACGGATGAAGGTTCCACTTATATTAATGATACTGATGGTTTAGATAAGAGGATCCAGTTTTTTTGGGCGGGGGTGGGGCAGGCAGAAGAATTAATGTGTTGGGCTGTCAGAGAAGTATTTGCATTTTACACAGATGGGTCTCACCACCAGGATACTAGGTTTAACTAACACTCCTCAACAGTCAGATGCACTTAAGACTCATTAAACCAGCAGTTCTCCAAGTGTAGTACCCGGACCCAACAAGCACTGTCATCACCTGGGAGCGTTAGGCCTGCACATTCTCAGGCCTAGCCCAGCCCTACTGAATCAGAAACTCCATGGGTGGGGCCCAGATTTGTTTTAATAATCCCTCCTGGTGATTCTGATGCGTGCTAAGGTTTCAGAGAAACCCCTCATTGAGCTAACAGTTACATAGTCTTCCCAACAGAACTGTGGTGAAAGAAGTCTAATTCATTAATTTATAGTTTTGCTTTCTCCCTCTCACTTTAGCTATAAGGTACAACAAGTGATATCTGTAATTTTTGGCTGCTCATTATCTACCTGCTCTTCAATACATTTACCACTTATTCCTTACATTTAATCCATTACAACCCTATGAACTGGTCAGCCTAATTATCTAGATGAGGAAAAAAGGTATCAAGAGGTTAGTAGTACAGAGTCAGTCAGCATATGACGGGGTGGGATTCCATCACAGGTCTGTCTATCTCCAATGCCATTATGTAATACACAGATCAAGTAAATGTTATGTAAACTTATCAATCCAAAAGTTGTTTCTAACCCCTAAAGTGTTCTTTTACTTACATCTGAAATACTTAGGACCTGATTCAGACTCAGTACTCCTGAGCAAAAGGAATTAGCCTTTATTGATGTAGAATTTCTATATAATAAAATGCACAGATCTTGAAGTGTTCACATCAATGAGTTTTGACAACTGTATATACATCCATATAATCACTAACCCAAGCAAAATATATTTACATCACTCAGAAAGTTGTGCCAAAGATGACCAACTCATCCTGGATGGCTGGGGATTTCCCAATTTGTGGCACTGAGGGTCCTGTATCCCTTGCTCCCGGGCAAACCAAGATGGTTGGTCACCCTATTTTGTCTTTTTGGCCTTACTTTTAAATGAATGACAAAAGGCAAGCAGGTGAGAAAAGCTGTCCTAGATACTTGGAGGGCAGAACTGCAAAGTGTGATGCTTGCTCTGCTCCGATGGCGGGGAGAGGTTACCATCAAATGAACAGCAACGGCATCGCCTGTACTGATTTTAGATGCCACACAGATGTCTTGAGTGATATGACATGGCCAGACTGTCCATCTGTAGACTATCGGCTGCAACTTCTCCCTATGACCTTTAGCCTGCCATCATTGAGCCTGCCTCTGTCAGGTCCCCGCATCACTTCTAATCTGCTGTGTGCTAGGAAACTAGATTACCTTGCATTAGCAAGCTAGAAGAGTAGGAATAAATAGGCTTTTGTGTTTTCAGTACATAGAATTTGTATTAACACTTTCAGCTGCTTAAAGTTCTTTTATAATTCCTGCCTACCTTCGGCTGGTTCTGGTTAGCAGAGGCTAACTGGTATCCTCCAGAGAAGTGAGTTGTTTTACTTCTCTTTGAATGATTTCACTTCCCCTTAATTACTCTGGTTGAGAGCAAAAATAAATTTCTGGGCATCATTCCAAATACTCACAGAAAG
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CTTGCTTCTGCACTATTGCAGATTTCATCTCTGGGGGATAAAAATGCTTGTCCATCTGGCATAACTTGGACCAGGTGATGCTAGAGCCCCAGAAGGGTAGAACTCTGCCTTTTGTCCATAATCTATAGTCCTAGCCCTTAGAAGGTTCACATGACATCTTTTTTTTTTTTTTTTTTTGAGAAGGGGCCTCGCCATGTTGCCCAGGCTGGCCTCACACTTCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTAAGCAGCTAAGACCATAAGTGGTTGCTACCGCACCTGACTCATAAAATCATTTTTGAAATCGCCAGTGATAAGGGCTCTGTGTTTAGAAAACTTTCTTCCACGAGGGCTTCTGTAACTCTTTGGTCTCAGGAACTGCTTAGAACTTTGTAACTAATGGTGCTAGTTATGTTTCCTTGAGGCTACTCACCTAGGAAGCCCTTGGACACCATCTGTGTCAGCAGTTCTGGGTTTCCACCTCCAAACCGCTCCCCAAAGACTTTGCCCAGATCTTCCGCCACATGTTTCGCTACATCCACACCAACTTCATCCACCAGTGTGGCGGCACCCACAGGAAAGCCAAAGCTTGTGGTCAGGGAATCCAGCTTCTTCGGGTCAACTCCTTCCTGAACAGGAAGCGATGCAGGGACCTCAGGGGAAGGGCAGCCCAAATCCCCCCAAAGGGCTCCCTGTACTGGCTCCAAACACTGCCTTGTGTAAAACCCACTTCTGAGTGTCACCTGACCAGGCCCAGGACTGGTGCTATTTCATTCAGGGAAGCACAAAGAAGTTTGGGGCCACAAGTGGAAAGTCTGAGCCTTCTCTAATCTACAGCACTTTAAGGACGTTTAGAGATGACTAAATTCTTCATTTTCTTCTTGTTTGCATTTCTGAATCTCAATAATAAGGAGATTGCATGACAGACGGCTGAGTGTGTCATGACCAACAGAAGAAACATCATCAAAGAGGAGCACTCAGAGCCCTGTGATCCCCAAGTCTGGGTAAGTGCCCAGCGAGGAGGATCCCTCTCCTTTCCTGCCAGAATGACCTCGATGGCTACTGGAGAGGTCTGTGTGCTGTGGAAACAGATGCAGCACCAGTTGAACCAAGCGGGCCCTGTTCTGGATGGTCCCTGCCTCAGAGAGGTGCAGAAACAGCATAGAAGACATGCTGGGGGGTGGGGTGCCTTTAGCTTGCTGGAACAGTGAGGAGGCTGTGGGGCAGAGGGAAAGCTCTGCCCCTTTCAGTGCAGTATAAGCCCAACTTCCGACTGCTGTGCAGAGAGAGGGCACCAGGGACCTTCCTAGACAAGAGCAGGAGTTGGTGTATCAGAAGGAAGCTTGGTCCTTATCTTGACATCATGAGTTTTAGAGTGACTGAAGGAGTGGAAGATGCCGCAAACACTCTGGAGAGCAATACCAACCTGGAGGATTCGGATGACTTCAGACATCATGGGCGCAAGACACCTGGTAGTATAGAAGCCAGGTCCATCCTGCCAAGGAAGAGAACATGAGCTCCCTGGCCCTGCTGCTGGGACTGAGTCTGAAACACTCTACCTTTCCCAGGGTCACTTCAAAGTCATTTGAAAGTCACTGTAAAACTTAAGGTGACTTAAAATCTCAATCAGAATCCTTAAAAATGAAATTGCAGGGGAAGCCGTACTAGGGGTAGCCTGGCTTGAATCAAACAGTACAGCAGATAGTTTCATGGTCACCTTCAAGGTCTGGGATGGCTGGGAGAACCCTGCCACATCCTAGATACTCCCCACTCCCACCTTGACTCAGTGGGACAGTCAATACCACCGTCCATCCTGGAGACAACCCAGGGGAAAATCATATCAAAGTCTGGTCATTTGCCCCAGAATATTTATAAACAAGCCTGGAGGTAAAAGGAGTCTTATTAGAACTTTTCAAAAACTCTGCAGCTCTGTTATACAGCCCCTTACCTTAACCACAATGATGACCTTCCCCTGCTTGAGACCAACTGCTACAGCTGAAGCACTGGTGTCTTTGGAAGTTTTCTCGGTCGTGATAATCTGCAGCAGCTGCATCTTGTCCACGGGAGAGAAGTAGTGCATGCCAATCACCTGGCAAGGGGAACCAAAAGCCAACAGATCGGAGAATGCGGGTGAGGAACCTGAGAGCATTCCTTCTCTGCTAGGAAAACACTAGAAAGAAAGGTGGCTGTGATATAGGAATACTGCTTGACATAGCTGAGTGGTTTGGTTCCATGGGTCTTTGATAAAAGTTTAGTATGTTTAGGGAGAGCACATTGGAATCCTCCTCTTCCATTTGCTTCTAAGGTTTTTCACTACAGACATCTGATCCTCCCAACAATCAGTGCCAAAACCACAGCTCGAGGCCAAACTAGATTTATTGGGGAACGACGGATGAAGGTTCCACTTATATTAATGATACTGATGGTTTAGATAAGAGGATCCAGTTTTTTTGGGCGGGGGTGGGGCAGGCAGAAGAATTAATGTGTTGGGCTGTCAGAGAAGTATTTGCATTTTACACAGATGGGTCTCACCACCAGGATACTAGGTTTAACTAACACTCCTCAACAGTCAGATGCACTTAAGACTCATTAAACCAGCAGTTCTCCAAGTGTAGTACCCGGACCCAACAAGCACTGTCATCACCTGGGAGCGTTAGGCCTGCACATTCTCAGGCCTAGCCCAGCCCTACTGAATCAGAAACTCCATGGGTGGGGCCCAGATTTGTTTTAATAATCCCTCCTGGTGATTCTGATGCGTGCTAAGGTTTCAGAGAAACCCCTCATTGAGCTAACAGTTACATAGTCTTCCCAACAGAACTGTGGTGAAAGAAGTCTAATTCATTAATTTATAGTTTTGCTTTCTCCCTCTCACTTTAGCTATAAGGTACAACAAGTGATATCTGTAATTTTTGGCTGCTCATTATCTACCTGCTCTTCAATACATTTACCACTTATTCCTTACATTTAATCCATTACAACCCTATGAACTGGTCAGCCTAATTATCTAGATGAGGAAAAAAGGTATCAAGAGGTTAGTAGTACAGAGTCAGTCAGCATATGACGGGGTGGGATTCCATCACAGGTCTGTCTATCTCCAATGCCATTATGTAATACACAGATCAAGTAAATGTTATGTAAACTTATCAATCCAAAAGTTGTTTCTAACCCCTAAAGTGTTCTTTTACTTACATCTGAAATACTTAGGACCTGATTCAGACTCAGTACTCCTGAGCAAAAGGAATTAGCCTTTATTGATGTAGAATTTCTATATAATAAAATGCACAGATCTTGAAGTGTTCACATCAATGAGTTTTGACAACTGTATATACATCCATATAATCACTAACCCAAGCAAAATATATTTACATCACTCAGAAAGTTGTGCCAAAGATGACCAACTCATCCTGGATGGCTGGGGATTTCCCAATTTGTGGCACTGAGGGTCCTGTATCCCTTGCTCCCGGGCAAACCAAGATGGTTGGTCACCCTATTTTGTCTTTTTGGCCTTACTTTTAAATGAATGACAAAAGGCAAGCAGGTGAGAAAAGCTGTCCTAGATACTTGGAGGGCAGAACTGCAAAGTGTGATGCTTGCTCTGCTCCGATGGCGGGGAGAGGTTACCATCAAATGAACAGCAACGGCATCGCCTGTACTGATTTTAGATGCCACACAGATGTCTTGAGTGATATGACATGGCCAGACTGTCCATCTGTAGACTATCGGCTGCAACTTCTCCCTATGACCTTTAGCCTGCCATCATTGAGCCTGCCTCTGTCAGGTCCCCGCATCACTTCTAATCTGCTGTGTGCTAGGAAACTAGATTACCTTGCATTAGCAAGCTAGAAGAGTAGGAATAAATAGGCTTTTGTGTTTTCAGTACATAGAATTTGTATTAACACTTTCAGCTGCTTAAAGTTCTTTTATAATTCCTGCCTACCTTCGGCTGGTTCTGGTTAGCAGAGGCTAACTGGTATCCTCCAGAGAAGTGAGTTGTTTTACTTCTCTTTGAATGATTTCACTTCCCCTTAATTACTCTGGTTGAGAGCAAAAATAAATTTCTGGGCATCATTCCAAATACTCACAGAAAG
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Task1_train_3176
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Consider this mutation in GAREM2, HADHA (GRB2 associated regulator of MAPK1 subtype 2| hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha) on Chromosome 2. Is this a benign change or a disease-causing variant?
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Pathogenic; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
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CTTGCTTCTGCACTATTGCAGATTTCATCTCTGGGGGATAAAAATGCTTGTCCATCTGGCATAACTTGGACCAGGTGATGCTAGAGCCCCAGAAGGGTAGAACTCTGCCTTTTGTCCATAATCTATAGTCCTAGCCCTTAGAAGGTTCACATGACATCTTTTTTTTTTTTTTTTTTTGAGAAGGGGCCTCGCCATGTTGCCCAGGCTGGCCTCACACTTCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTAAGCAGCTAAGACCATAAGTGGTTGCTACCGCACCTGACTCATAAAATCATTTTTGAAATCGCCAGTGATAAGGGCTCTGTGTTTAGAAAACTTTCTTCCACGAGGGCTTCTGTAACTCTTTGGTCTCAGGAACTGCTTAGAACTTTGTAACTAATGGTGCTAGTTATGTTTCCTTGAGGCTACTCACCTAGGAAGCCCTTGGACACCATCTGTGTCAGCAGTTCTGGGTTTCCACCTCCAAACCGCTCCCCAAAGACTTTGCCCAGATCTTCCGCCACATGTTTCGCTACATCCACACCAACTTCATCCACCAGTGTGGCGGCACCCACAGGAAAGCCAAAGCTTGTGGTCAGGGAATCCAGCTTCTTCGGGTCAACTCCTTCCTGAACAGGAAGCGATGCAGGGACCTCAGGGGAAGGGCAGCCCAAATCCCCCCAAAGGGCTCCCTGTACTGGCTCCAAACACTGCCTTGTGTAAAACCCACTTCTGAGTGTCACCTGACCAGGCCCAGGACTGGTGCTATTTCATTCAGGGAAGCACAAAGAAGTTTGGGGCCACAAGTGGAAAGTCTGAGCCTTCTCTAATCTACAGCACTTTAAGGACGTTTAGAGATGACTAAATTCTTCATTTTCTTCTTGTTTGCATTTCTGAATCTCAATAATAAGGAGATTGCATGACAGACGGCTGAGTGTGTCATGACCAACAGAAGAAACATCATCAAAGAGGAGCACTCAGAGCCCTGTGATCCCCAAGTCTGGGTAAGTGCCCAGCGAGGAGGATCCCTCTCCTTTCCTGCCAGAATGACCTCGATGGCTACTGGAGAGGTCTGTGTGCTGTGGAAACAGATGCAGCACCAGTTGAACCAAGCGGGCCCTGTTCTGGATGGTCCCTGCCTCAGAGAGGTGCAGAAACAGCATAGAAGACATGCTGGGGGGTGGGGTGCCTTTAGCTTGCTGGAACAGTGAGGAGGCTGTGGGGCAGAGGGAAAGCTCTGCCCCTTTCAGTGCAGTATAAGCCCAACTTCCGACTGCTGTGCAGAGAGAGGGCACCAGGGACCTTCCTAGACAAGAGCAGGAGTTGGTGTATCAGAAGGAAGCTTGGTCCTTATCTTGACATCATGAGTTTTAGAGTGACTGAAGGAGTGGAAGATGCCGCAAACACTCTGGAGAGCAATACCAACCTGGAGGATTCGGATGACTTCAGACATCATGGGCGCAAGACACCTGGTAGTATAGAAGCCAGGTCCATCCTGCCAAGGAAGAGAACATGAGCTCCCTGGCCCTGCTGCTGGGACTGAGTCTGAAACACTCTACCTTTCCCAGGGTCACTTCAAAGTCATTTGAAAGTCACTGTAAAACTTAAGGTGACTTAAAATCTCAATCAGAATCCTTAAAAATGAAATTGCAGGGGAAGCCGTACTAGGGGTAGCCTGGCTTGAATCAAACAGTACAGCAGATAGTTTCATGGTCACCTTCAAGGTCTGGGATGGCTGGGAGAACCCTGCCACATCCTAGATACTCCCCACTCCCACCTTGACTCAGTGGGACAGTCAATACCACCGTCCATCCTGGAGACAACCCAGGGGAAAATCATATCAAAGTCTGGTCATTTGCCCCAGAATATTTATAAACAAGCCTGGAGGTAAAAGGAGTCTTATTAGAACTTTTCAAAAACTCTGCAGCTCTGTTATACAGCCCCTTACCTTAACCACAATGATGACCTTCCCCTGCTTGAGACCAACTGCTACAGCTGAAGCACTGGTGTCTTTGGAAGTTTTCTCGGTCGTGATAATCTCCAGCAGCTGCATCTTGTCCACGGGAGAGAAGTAGTGCATGCCAATCACCTGGCAAGGGGAACCAAAAGCCAACAGATCGGAGAATGCGGGTGAGGAACCTGAGAGCATTCCTTCTCTGCTAGGAAAACACTAGAAAGAAAGGTGGCTGTGATATAGGAATACTGCTTGACATAGCTGAGTGGTTTGGTTCCATGGGTCTTTGATAAAAGTTTAGTATGTTTAGGGAGAGCACATTGGAATCCTCCTCTTCCATTTGCTTCTAAGGTTTTTCACTACAGACATCTGATCCTCCCAACAATCAGTGCCAAAACCACAGCTCGAGGCCAAACTAGATTTATTGGGGAACGACGGATGAAGGTTCCACTTATATTAATGATACTGATGGTTTAGATAAGAGGATCCAGTTTTTTTGGGCGGGGGTGGGGCAGGCAGAAGAATTAATGTGTTGGGCTGTCAGAGAAGTATTTGCATTTTACACAGATGGGTCTCACCACCAGGATACTAGGTTTAACTAACACTCCTCAACAGTCAGATGCACTTAAGACTCATTAAACCAGCAGTTCTCCAAGTGTAGTACCCGGACCCAACAAGCACTGTCATCACCTGGGAGCGTTAGGCCTGCACATTCTCAGGCCTAGCCCAGCCCTACTGAATCAGAAACTCCATGGGTGGGGCCCAGATTTGTTTTAATAATCCCTCCTGGTGATTCTGATGCGTGCTAAGGTTTCAGAGAAACCCCTCATTGAGCTAACAGTTACATAGTCTTCCCAACAGAACTGTGGTGAAAGAAGTCTAATTCATTAATTTATAGTTTTGCTTTCTCCCTCTCACTTTAGCTATAAGGTACAACAAGTGATATCTGTAATTTTTGGCTGCTCATTATCTACCTGCTCTTCAATACATTTACCACTTATTCCTTACATTTAATCCATTACAACCCTATGAACTGGTCAGCCTAATTATCTAGATGAGGAAAAAAGGTATCAAGAGGTTAGTAGTACAGAGTCAGTCAGCATATGACGGGGTGGGATTCCATCACAGGTCTGTCTATCTCCAATGCCATTATGTAATACACAGATCAAGTAAATGTTATGTAAACTTATCAATCCAAAAGTTGTTTCTAACCCCTAAAGTGTTCTTTTACTTACATCTGAAATACTTAGGACCTGATTCAGACTCAGTACTCCTGAGCAAAAGGAATTAGCCTTTATTGATGTAGAATTTCTATATAATAAAATGCACAGATCTTGAAGTGTTCACATCAATGAGTTTTGACAACTGTATATACATCCATATAATCACTAACCCAAGCAAAATATATTTACATCACTCAGAAAGTTGTGCCAAAGATGACCAACTCATCCTGGATGGCTGGGGATTTCCCAATTTGTGGCACTGAGGGTCCTGTATCCCTTGCTCCCGGGCAAACCAAGATGGTTGGTCACCCTATTTTGTCTTTTTGGCCTTACTTTTAAATGAATGACAAAAGGCAAGCAGGTGAGAAAAGCTGTCCTAGATACTTGGAGGGCAGAACTGCAAAGTGTGATGCTTGCTCTGCTCCGATGGCGGGGAGAGGTTACCATCAAATGAACAGCAACGGCATCGCCTGTACTGATTTTAGATGCCACACAGATGTCTTGAGTGATATGACATGGCCAGACTGTCCATCTGTAGACTATCGGCTGCAACTTCTCCCTATGACCTTTAGCCTGCCATCATTGAGCCTGCCTCTGTCAGGTCCCCGCATCACTTCTAATCTGCTGTGTGCTAGGAAACTAGATTACCTTGCATTAGCAAGCTAGAAGAGTAGGAATAAATAGGCTTTTGTGTTTTCAGTACATAGAATTTGTATTAACACTTTCAGCTGCTTAAAGTTCTTTTATAATTCCTGCCTACCTTCGGCTGGTTCTGGTTAGCAGAGGCTAACTGGTATCCTCCAGAGAAGTGAGTTGTTTTACTTCTCTTTGAATGATTTCACTTCCCCTTAATTACTCTGGTTGAGAGCAAAAATAAATTTCTGGGCATCATTCCAAATACTCACAGAAAG
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CTTGCTTCTGCACTATTGCAGATTTCATCTCTGGGGGATAAAAATGCTTGTCCATCTGGCATAACTTGGACCAGGTGATGCTAGAGCCCCAGAAGGGTAGAACTCTGCCTTTTGTCCATAATCTATAGTCCTAGCCCTTAGAAGGTTCACATGACATCTTTTTTTTTTTTTTTTTTTGAGAAGGGGCCTCGCCATGTTGCCCAGGCTGGCCTCACACTTCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTAAGCAGCTAAGACCATAAGTGGTTGCTACCGCACCTGACTCATAAAATCATTTTTGAAATCGCCAGTGATAAGGGCTCTGTGTTTAGAAAACTTTCTTCCACGAGGGCTTCTGTAACTCTTTGGTCTCAGGAACTGCTTAGAACTTTGTAACTAATGGTGCTAGTTATGTTTCCTTGAGGCTACTCACCTAGGAAGCCCTTGGACACCATCTGTGTCAGCAGTTCTGGGTTTCCACCTCCAAACCGCTCCCCAAAGACTTTGCCCAGATCTTCCGCCACATGTTTCGCTACATCCACACCAACTTCATCCACCAGTGTGGCGGCACCCACAGGAAAGCCAAAGCTTGTGGTCAGGGAATCCAGCTTCTTCGGGTCAACTCCTTCCTGAACAGGAAGCGATGCAGGGACCTCAGGGGAAGGGCAGCCCAAATCCCCCCAAAGGGCTCCCTGTACTGGCTCCAAACACTGCCTTGTGTAAAACCCACTTCTGAGTGTCACCTGACCAGGCCCAGGACTGGTGCTATTTCATTCAGGGAAGCACAAAGAAGTTTGGGGCCACAAGTGGAAAGTCTGAGCCTTCTCTAATCTACAGCACTTTAAGGACGTTTAGAGATGACTAAATTCTTCATTTTCTTCTTGTTTGCATTTCTGAATCTCAATAATAAGGAGATTGCATGACAGACGGCTGAGTGTGTCATGACCAACAGAAGAAACATCATCAAAGAGGAGCACTCAGAGCCCTGTGATCCCCAAGTCTGGGTAAGTGCCCAGCGAGGAGGATCCCTCTCCTTTCCTGCCAGAATGACCTCGATGGCTACTGGAGAGGTCTGTGTGCTGTGGAAACAGATGCAGCACCAGTTGAACCAAGCGGGCCCTGTTCTGGATGGTCCCTGCCTCAGAGAGGTGCAGAAACAGCATAGAAGACATGCTGGGGGGTGGGGTGCCTTTAGCTTGCTGGAACAGTGAGGAGGCTGTGGGGCAGAGGGAAAGCTCTGCCCCTTTCAGTGCAGTATAAGCCCAACTTCCGACTGCTGTGCAGAGAGAGGGCACCAGGGACCTTCCTAGACAAGAGCAGGAGTTGGTGTATCAGAAGGAAGCTTGGTCCTTATCTTGACATCATGAGTTTTAGAGTGACTGAAGGAGTGGAAGATGCCGCAAACACTCTGGAGAGCAATACCAACCTGGAGGATTCGGATGACTTCAGACATCATGGGCGCAAGACACCTGGTAGTATAGAAGCCAGGTCCATCCTGCCAAGGAAGAGAACATGAGCTCCCTGGCCCTGCTGCTGGGACTGAGTCTGAAACACTCTACCTTTCCCAGGGTCACTTCAAAGTCATTTGAAAGTCACTGTAAAACTTAAGGTGACTTAAAATCTCAATCAGAATCCTTAAAAATGAAATTGCAGGGGAAGCCGTACTAGGGGTAGCCTGGCTTGAATCAAACAGTACAGCAGATAGTTTCATGGTCACCTTCAAGGTCTGGGATGGCTGGGAGAACCCTGCCACATCCTAGATACTCCCCACTCCCACCTTGACTCAGTGGGACAGTCAATACCACCGTCCATCCTGGAGACAACCCAGGGGAAAATCATATCAAAGTCTGGTCATTTGCCCCAGAATATTTATAAACAAGCCTGGAGGTAAAAGGAGTCTTATTAGAACTTTTCAAAAACTCTGCAGCTCTGTTATACAGCCCCTTACCTTAACCACAATGATGACCTTCCCCTGCTTGAGACCAACTGCTACAGCTGAAGCACTGGTGTCTTTGGAAGTTTTCTCGGTCGTGATAATCTGCAGCAGCTGCATCTTGTCCACGGGAGAGAAGTAGTGCATGCCAATCACCTGGCAAGGGGAACCAAAAGCCAACAGATCGGAGAATGCGGGTGAGGAACCTGAGAGCATTCCTTCTCTGCTAGGAAAACACTAGAAAGAAAGGTGGCTGTGATATAGGAATACTGCTTGACATAGCTGAGTGGTTTGGTTCCATGGGTCTTTGATAAAAGTTTAGTATGTTTAGGGAGAGCACATTGGAATCCTCCTCTTCCATTTGCTTCTAAGGTTTTTCACTACAGACATCTGATCCTCCCAACAATCAGTGCCAAAACCACAGCTCGAGGCCAAACTAGATTTATTGGGGAACGACGGATGAAGGTTCCACTTATATTAATGATACTGATGGTTTAGATAAGAGGATCCAGTTTTTTTGGGCGGGGGTGGGGCAGGCAGAAGAATTAATGTGTTGGGCTGTCAGAGAAGTATTTGCATTTTACACAGATGGGTCTCACCACCAGGATACTAGGTTTAACTAACACTCCTCAACAGTCAGATGCACTTAAGACTCATTAAACCAGCAGTTCTCCAAGTGTAGTACCCGGACCCAACAAGCACTGTCATCACCTGGGAGCGTTAGGCCTGCACATTCTCAGGCCTAGCCCAGCCCTACTGAATCAGAAACTCCATGGGTGGGGCCCAGATTTGTTTTAATAATCCCTCCTGGTGATTCTGATGCGTGCTAAGGTTTCAGAGAAACCCCTCATTGAGCTAACAGTTACATAGTCTTCCCAACAGAACTGTGGTGAAAGAAGTCTAATTCATTAATTTATAGTTTTGCTTTCTCCCTCTCACTTTAGCTATAAGGTACAACAAGTGATATCTGTAATTTTTGGCTGCTCATTATCTACCTGCTCTTCAATACATTTACCACTTATTCCTTACATTTAATCCATTACAACCCTATGAACTGGTCAGCCTAATTATCTAGATGAGGAAAAAAGGTATCAAGAGGTTAGTAGTACAGAGTCAGTCAGCATATGACGGGGTGGGATTCCATCACAGGTCTGTCTATCTCCAATGCCATTATGTAATACACAGATCAAGTAAATGTTATGTAAACTTATCAATCCAAAAGTTGTTTCTAACCCCTAAAGTGTTCTTTTACTTACATCTGAAATACTTAGGACCTGATTCAGACTCAGTACTCCTGAGCAAAAGGAATTAGCCTTTATTGATGTAGAATTTCTATATAATAAAATGCACAGATCTTGAAGTGTTCACATCAATGAGTTTTGACAACTGTATATACATCCATATAATCACTAACCCAAGCAAAATATATTTACATCACTCAGAAAGTTGTGCCAAAGATGACCAACTCATCCTGGATGGCTGGGGATTTCCCAATTTGTGGCACTGAGGGTCCTGTATCCCTTGCTCCCGGGCAAACCAAGATGGTTGGTCACCCTATTTTGTCTTTTTGGCCTTACTTTTAAATGAATGACAAAAGGCAAGCAGGTGAGAAAAGCTGTCCTAGATACTTGGAGGGCAGAACTGCAAAGTGTGATGCTTGCTCTGCTCCGATGGCGGGGAGAGGTTACCATCAAATGAACAGCAACGGCATCGCCTGTACTGATTTTAGATGCCACACAGATGTCTTGAGTGATATGACATGGCCAGACTGTCCATCTGTAGACTATCGGCTGCAACTTCTCCCTATGACCTTTAGCCTGCCATCATTGAGCCTGCCTCTGTCAGGTCCCCGCATCACTTCTAATCTGCTGTGTGCTAGGAAACTAGATTACCTTGCATTAGCAAGCTAGAAGAGTAGGAATAAATAGGCTTTTGTGTTTTCAGTACATAGAATTTGTATTAACACTTTCAGCTGCTTAAAGTTCTTTTATAATTCCTGCCTACCTTCGGCTGGTTCTGGTTAGCAGAGGCTAACTGGTATCCTCCAGAGAAGTGAGTTGTTTTACTTCTCTTTGAATGATTTCACTTCCCCTTAATTACTCTGGTTGAGAGCAAAAATAAATTTCTGGGCATCATTCCAAATACTCACAGAAAG
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Task1_train_3177
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The following genetic variant occurs in GAREM2, HADHA (GRB2 associated regulator of MAPK1 subtype 2| hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha) on Chromosome 2. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; HADHA-related disorder
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CTTGCTTCTGCACTATTGCAGATTTCATCTCTGGGGGATAAAAATGCTTGTCCATCTGGCATAACTTGGACCAGGTGATGCTAGAGCCCCAGAAGGGTAGAACTCTGCCTTTTGTCCATAATCTATAGTCCTAGCCCTTAGAAGGTTCACATGACATCTTTTTTTTTTTTTTTTTTTGAGAAGGGGCCTCGCCATGTTGCCCAGGCTGGCCTCACACTTCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTAAGCAGCTAAGACCATAAGTGGTTGCTACCGCACCTGACTCATAAAATCATTTTTGAAATCGCCAGTGATAAGGGCTCTGTGTTTAGAAAACTTTCTTCCACGAGGGCTTCTGTAACTCTTTGGTCTCAGGAACTGCTTAGAACTTTGTAACTAATGGTGCTAGTTATGTTTCCTTGAGGCTACTCACCTAGGAAGCCCTTGGACACCATCTGTGTCAGCAGTTCTGGGTTTCCACCTCCAAACCGCTCCCCAAAGACTTTGCCCAGATCTTCCGCCACATGTTTCGCTACATCCACACCAACTTCATCCACCAGTGTGGCGGCACCCACAGGAAAGCCAAAGCTTGTGGTCAGGGAATCCAGCTTCTTCGGGTCAACTCCTTCCTGAACAGGAAGCGATGCAGGGACCTCAGGGGAAGGGCAGCCCAAATCCCCCCAAAGGGCTCCCTGTACTGGCTCCAAACACTGCCTTGTGTAAAACCCACTTCTGAGTGTCACCTGACCAGGCCCAGGACTGGTGCTATTTCATTCAGGGAAGCACAAAGAAGTTTGGGGCCACAAGTGGAAAGTCTGAGCCTTCTCTAATCTACAGCACTTTAAGGACGTTTAGAGATGACTAAATTCTTCATTTTCTTCTTGTTTGCATTTCTGAATCTCAATAATAAGGAGATTGCATGACAGACGGCTGAGTGTGTCATGACCAACAGAAGAAACATCATCAAAGAGGAGCACTCAGAGCCCTGTGATCCCCAAGTCTGGGTAAGTGCCCAGCGAGGAGGATCCCTCTCCTTTCCTGCCAGAATGACCTCGATGGCTACTGGAGAGGTCTGTGTGCTGTGGAAACAGATGCAGCACCAGTTGAACCAAGCGGGCCCTGTTCTGGATGGTCCCTGCCTCAGAGAGGTGCAGAAACAGCATAGAAGACATGCTGGGGGGTGGGGTGCCTTTAGCTTGCTGGAACAGTGAGGAGGCTGTGGGGCAGAGGGAAAGCTCTGCCCCTTTCAGTGCAGTATAAGCCCAACTTCCGACTGCTGTGCAGAGAGAGGGCACCAGGGACCTTCCTAGACAAGAGCAGGAGTTGGTGTATCAGAAGGAAGCTTGGTCCTTATCTTGACATCATGAGTTTTAGAGTGACTGAAGGAGTGGAAGATGCCGCAAACACTCTGGAGAGCAATACCAACCTGGAGGATTCGGATGACTTCAGACATCATGGGCGCAAGACACCTGGTAGTATAGAAGCCAGGTCCATCCTGCCAAGGAAGAGAACATGAGCTCCCTGGCCCTGCTGCTGGGACTGAGTCTGAAACACTCTACCTTTCCCAGGGTCACTTCAAAGTCATTTGAAAGTCACTGTAAAACTTAAGGTGACTTAAAATCTCAATCAGAATCCTTAAAAATGAAATTGCAGGGGAAGCCGTACTAGGGGTAGCCTGGCTTGAATCAAACAGTACAGCAGATAGTTTCATGGTCACCTTCAAGGTCTGGGATGGCTGGGAGAACCCTGCCACATCCTAGATACTCCCCACTCCCACCTTGACTCAGTGGGACAGTCAATACCACCGTCCATCCTGGAGACAACCCAGGGGAAAATCATATCAAAGTCTGGTCATTTGCCCCAGAATATTTATAAACAAGCCTGGAGGTAAAAGGAGTCTTATTAGAACTTTTCAAAAACTCTGCAGCTCTGTTATACAGCCCCTTACCTTAACCACAATGATGACCTTCCCCTGCTTGAGACCAACTGCTACAGCTGAAGCACTGGTGTCTTTGGAAGTTTTCTCGGTCGTGATAATCTCCAGCAGCTGCATCTTGTCCACGGGAGAGAAGTAGTGCATGCCAATCACCTGGCAAGGGGAACCAAAAGCCAACAGATCGGAGAATGCGGGTGAGGAACCTGAGAGCATTCCTTCTCTGCTAGGAAAACACTAGAAAGAAAGGTGGCTGTGATATAGGAATACTGCTTGACATAGCTGAGTGGTTTGGTTCCATGGGTCTTTGATAAAAGTTTAGTATGTTTAGGGAGAGCACATTGGAATCCTCCTCTTCCATTTGCTTCTAAGGTTTTTCACTACAGACATCTGATCCTCCCAACAATCAGTGCCAAAACCACAGCTCGAGGCCAAACTAGATTTATTGGGGAACGACGGATGAAGGTTCCACTTATATTAATGATACTGATGGTTTAGATAAGAGGATCCAGTTTTTTTGGGCGGGGGTGGGGCAGGCAGAAGAATTAATGTGTTGGGCTGTCAGAGAAGTATTTGCATTTTACACAGATGGGTCTCACCACCAGGATACTAGGTTTAACTAACACTCCTCAACAGTCAGATGCACTTAAGACTCATTAAACCAGCAGTTCTCCAAGTGTAGTACCCGGACCCAACAAGCACTGTCATCACCTGGGAGCGTTAGGCCTGCACATTCTCAGGCCTAGCCCAGCCCTACTGAATCAGAAACTCCATGGGTGGGGCCCAGATTTGTTTTAATAATCCCTCCTGGTGATTCTGATGCGTGCTAAGGTTTCAGAGAAACCCCTCATTGAGCTAACAGTTACATAGTCTTCCCAACAGAACTGTGGTGAAAGAAGTCTAATTCATTAATTTATAGTTTTGCTTTCTCCCTCTCACTTTAGCTATAAGGTACAACAAGTGATATCTGTAATTTTTGGCTGCTCATTATCTACCTGCTCTTCAATACATTTACCACTTATTCCTTACATTTAATCCATTACAACCCTATGAACTGGTCAGCCTAATTATCTAGATGAGGAAAAAAGGTATCAAGAGGTTAGTAGTACAGAGTCAGTCAGCATATGACGGGGTGGGATTCCATCACAGGTCTGTCTATCTCCAATGCCATTATGTAATACACAGATCAAGTAAATGTTATGTAAACTTATCAATCCAAAAGTTGTTTCTAACCCCTAAAGTGTTCTTTTACTTACATCTGAAATACTTAGGACCTGATTCAGACTCAGTACTCCTGAGCAAAAGGAATTAGCCTTTATTGATGTAGAATTTCTATATAATAAAATGCACAGATCTTGAAGTGTTCACATCAATGAGTTTTGACAACTGTATATACATCCATATAATCACTAACCCAAGCAAAATATATTTACATCACTCAGAAAGTTGTGCCAAAGATGACCAACTCATCCTGGATGGCTGGGGATTTCCCAATTTGTGGCACTGAGGGTCCTGTATCCCTTGCTCCCGGGCAAACCAAGATGGTTGGTCACCCTATTTTGTCTTTTTGGCCTTACTTTTAAATGAATGACAAAAGGCAAGCAGGTGAGAAAAGCTGTCCTAGATACTTGGAGGGCAGAACTGCAAAGTGTGATGCTTGCTCTGCTCCGATGGCGGGGAGAGGTTACCATCAAATGAACAGCAACGGCATCGCCTGTACTGATTTTAGATGCCACACAGATGTCTTGAGTGATATGACATGGCCAGACTGTCCATCTGTAGACTATCGGCTGCAACTTCTCCCTATGACCTTTAGCCTGCCATCATTGAGCCTGCCTCTGTCAGGTCCCCGCATCACTTCTAATCTGCTGTGTGCTAGGAAACTAGATTACCTTGCATTAGCAAGCTAGAAGAGTAGGAATAAATAGGCTTTTGTGTTTTCAGTACATAGAATTTGTATTAACACTTTCAGCTGCTTAAAGTTCTTTTATAATTCCTGCCTACCTTCGGCTGGTTCTGGTTAGCAGAGGCTAACTGGTATCCTCCAGAGAAGTGAGTTGTTTTACTTCTCTTTGAATGATTTCACTTCCCCTTAATTACTCTGGTTGAGAGCAAAAATAAATTTCTGGGCATCATTCCAAATACTCACAGAAAG
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CTTGCTTCTGCACTATTGCAGATTTCATCTCTGGGGGATAAAAATGCTTGTCCATCTGGCATAACTTGGACCAGGTGATGCTAGAGCCCCAGAAGGGTAGAACTCTGCCTTTTGTCCATAATCTATAGTCCTAGCCCTTAGAAGGTTCACATGACATCTTTTTTTTTTTTTTTTTTTGAGAAGGGGCCTCGCCATGTTGCCCAGGCTGGCCTCACACTTCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTAAGCAGCTAAGACCATAAGTGGTTGCTACCGCACCTGACTCATAAAATCATTTTTGAAATCGCCAGTGATAAGGGCTCTGTGTTTAGAAAACTTTCTTCCACGAGGGCTTCTGTAACTCTTTGGTCTCAGGAACTGCTTAGAACTTTGTAACTAATGGTGCTAGTTATGTTTCCTTGAGGCTACTCACCTAGGAAGCCCTTGGACACCATCTGTGTCAGCAGTTCTGGGTTTCCACCTCCAAACCGCTCCCCAAAGACTTTGCCCAGATCTTCCGCCACATGTTTCGCTACATCCACACCAACTTCATCCACCAGTGTGGCGGCACCCACAGGAAAGCCAAAGCTTGTGGTCAGGGAATCCAGCTTCTTCGGGTCAACTCCTTCCTGAACAGGAAGCGATGCAGGGACCTCAGGGGAAGGGCAGCCCAAATCCCCCCAAAGGGCTCCCTGTACTGGCTCCAAACACTGCCTTGTGTAAAACCCACTTCTGAGTGTCACCTGACCAGGCCCAGGACTGGTGCTATTTCATTCAGGGAAGCACAAAGAAGTTTGGGGCCACAAGTGGAAAGTCTGAGCCTTCTCTAATCTACAGCACTTTAAGGACGTTTAGAGATGACTAAATTCTTCATTTTCTTCTTGTTTGCATTTCTGAATCTCAATAATAAGGAGATTGCATGACAGACGGCTGAGTGTGTCATGACCAACAGAAGAAACATCATCAAAGAGGAGCACTCAGAGCCCTGTGATCCCCAAGTCTGGGTAAGTGCCCAGCGAGGAGGATCCCTCTCCTTTCCTGCCAGAATGACCTCGATGGCTACTGGAGAGGTCTGTGTGCTGTGGAAACAGATGCAGCACCAGTTGAACCAAGCGGGCCCTGTTCTGGATGGTCCCTGCCTCAGAGAGGTGCAGAAACAGCATAGAAGACATGCTGGGGGGTGGGGTGCCTTTAGCTTGCTGGAACAGTGAGGAGGCTGTGGGGCAGAGGGAAAGCTCTGCCCCTTTCAGTGCAGTATAAGCCCAACTTCCGACTGCTGTGCAGAGAGAGGGCACCAGGGACCTTCCTAGACAAGAGCAGGAGTTGGTGTATCAGAAGGAAGCTTGGTCCTTATCTTGACATCATGAGTTTTAGAGTGACTGAAGGAGTGGAAGATGCCGCAAACACTCTGGAGAGCAATACCAACCTGGAGGATTCGGATGACTTCAGACATCATGGGCGCAAGACACCTGGTAGTATAGAAGCCAGGTCCATCCTGCCAAGGAAGAGAACATGAGCTCCCTGGCCCTGCTGCTGGGACTGAGTCTGAAACACTCTACCTTTCCCAGGGTCACTTCAAAGTCATTTGAAAGTCACTGTAAAACTTAAGGTGACTTAAAATCTCAATCAGAATCCTTAAAAATGAAATTGCAGGGGAAGCCGTACTAGGGGTAGCCTGGCTTGAATCAAACAGTACAGCAGATAGTTTCATGGTCACCTTCAAGGTCTGGGATGGCTGGGAGAACCCTGCCACATCCTAGATACTCCCCACTCCCACCTTGACTCAGTGGGACAGTCAATACCACCGTCCATCCTGGAGACAACCCAGGGGAAAATCATATCAAAGTCTGGTCATTTGCCCCAGAATATTTATAAACAAGCCTGGAGGTAAAAGGAGTCTTATTAGAACTTTTCAAAAACTCTGCAGCTCTGTTATACAGCCCCTTACCTTAACCACAATGATGACCTTCCCCTGCTTGAGACCAACTGCTACAGCTGAAGCACTGGTGTCTTTGGAAGTTTTCTCGGTCGTGATAATCTGCAGCAGCTGCATCTTGTCCACGGGAGAGAAGTAGTGCATGCCAATCACCTGGCAAGGGGAACCAAAAGCCAACAGATCGGAGAATGCGGGTGAGGAACCTGAGAGCATTCCTTCTCTGCTAGGAAAACACTAGAAAGAAAGGTGGCTGTGATATAGGAATACTGCTTGACATAGCTGAGTGGTTTGGTTCCATGGGTCTTTGATAAAAGTTTAGTATGTTTAGGGAGAGCACATTGGAATCCTCCTCTTCCATTTGCTTCTAAGGTTTTTCACTACAGACATCTGATCCTCCCAACAATCAGTGCCAAAACCACAGCTCGAGGCCAAACTAGATTTATTGGGGAACGACGGATGAAGGTTCCACTTATATTAATGATACTGATGGTTTAGATAAGAGGATCCAGTTTTTTTGGGCGGGGGTGGGGCAGGCAGAAGAATTAATGTGTTGGGCTGTCAGAGAAGTATTTGCATTTTACACAGATGGGTCTCACCACCAGGATACTAGGTTTAACTAACACTCCTCAACAGTCAGATGCACTTAAGACTCATTAAACCAGCAGTTCTCCAAGTGTAGTACCCGGACCCAACAAGCACTGTCATCACCTGGGAGCGTTAGGCCTGCACATTCTCAGGCCTAGCCCAGCCCTACTGAATCAGAAACTCCATGGGTGGGGCCCAGATTTGTTTTAATAATCCCTCCTGGTGATTCTGATGCGTGCTAAGGTTTCAGAGAAACCCCTCATTGAGCTAACAGTTACATAGTCTTCCCAACAGAACTGTGGTGAAAGAAGTCTAATTCATTAATTTATAGTTTTGCTTTCTCCCTCTCACTTTAGCTATAAGGTACAACAAGTGATATCTGTAATTTTTGGCTGCTCATTATCTACCTGCTCTTCAATACATTTACCACTTATTCCTTACATTTAATCCATTACAACCCTATGAACTGGTCAGCCTAATTATCTAGATGAGGAAAAAAGGTATCAAGAGGTTAGTAGTACAGAGTCAGTCAGCATATGACGGGGTGGGATTCCATCACAGGTCTGTCTATCTCCAATGCCATTATGTAATACACAGATCAAGTAAATGTTATGTAAACTTATCAATCCAAAAGTTGTTTCTAACCCCTAAAGTGTTCTTTTACTTACATCTGAAATACTTAGGACCTGATTCAGACTCAGTACTCCTGAGCAAAAGGAATTAGCCTTTATTGATGTAGAATTTCTATATAATAAAATGCACAGATCTTGAAGTGTTCACATCAATGAGTTTTGACAACTGTATATACATCCATATAATCACTAACCCAAGCAAAATATATTTACATCACTCAGAAAGTTGTGCCAAAGATGACCAACTCATCCTGGATGGCTGGGGATTTCCCAATTTGTGGCACTGAGGGTCCTGTATCCCTTGCTCCCGGGCAAACCAAGATGGTTGGTCACCCTATTTTGTCTTTTTGGCCTTACTTTTAAATGAATGACAAAAGGCAAGCAGGTGAGAAAAGCTGTCCTAGATACTTGGAGGGCAGAACTGCAAAGTGTGATGCTTGCTCTGCTCCGATGGCGGGGAGAGGTTACCATCAAATGAACAGCAACGGCATCGCCTGTACTGATTTTAGATGCCACACAGATGTCTTGAGTGATATGACATGGCCAGACTGTCCATCTGTAGACTATCGGCTGCAACTTCTCCCTATGACCTTTAGCCTGCCATCATTGAGCCTGCCTCTGTCAGGTCCCCGCATCACTTCTAATCTGCTGTGTGCTAGGAAACTAGATTACCTTGCATTAGCAAGCTAGAAGAGTAGGAATAAATAGGCTTTTGTGTTTTCAGTACATAGAATTTGTATTAACACTTTCAGCTGCTTAAAGTTCTTTTATAATTCCTGCCTACCTTCGGCTGGTTCTGGTTAGCAGAGGCTAACTGGTATCCTCCAGAGAAGTGAGTTGTTTTACTTCTCTTTGAATGATTTCACTTCCCCTTAATTACTCTGGTTGAGAGCAAAAATAAATTTCTGGGCATCATTCCAAATACTCACAGAAAG
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Task1_train_3178
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A mutation on Chromosome 2 affecting GAREM2, HADHA (GRB2 associated regulator of MAPK1 subtype 2| hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
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CTTGCTTCTGCACTATTGCAGATTTCATCTCTGGGGGATAAAAATGCTTGTCCATCTGGCATAACTTGGACCAGGTGATGCTAGAGCCCCAGAAGGGTAGAACTCTGCCTTTTGTCCATAATCTATAGTCCTAGCCCTTAGAAGGTTCACATGACATCTTTTTTTTTTTTTTTTTTTGAGAAGGGGCCTCGCCATGTTGCCCAGGCTGGCCTCACACTTCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTAAGCAGCTAAGACCATAAGTGGTTGCTACCGCACCTGACTCATAAAATCATTTTTGAAATCGCCAGTGATAAGGGCTCTGTGTTTAGAAAACTTTCTTCCACGAGGGCTTCTGTAACTCTTTGGTCTCAGGAACTGCTTAGAACTTTGTAACTAATGGTGCTAGTTATGTTTCCTTGAGGCTACTCACCTAGGAAGCCCTTGGACACCATCTGTGTCAGCAGTTCTGGGTTTCCACCTCCAAACCGCTCCCCAAAGACTTTGCCCAGATCTTCCGCCACATGTTTCGCTACATCCACACCAACTTCATCCACCAGTGTGGCGGCACCCACAGGAAAGCCAAAGCTTGTGGTCAGGGAATCCAGCTTCTTCGGGTCAACTCCTTCCTGAACAGGAAGCGATGCAGGGACCTCAGGGGAAGGGCAGCCCAAATCCCCCCAAAGGGCTCCCTGTACTGGCTCCAAACACTGCCTTGTGTAAAACCCACTTCTGAGTGTCACCTGACCAGGCCCAGGACTGGTGCTATTTCATTCAGGGAAGCACAAAGAAGTTTGGGGCCACAAGTGGAAAGTCTGAGCCTTCTCTAATCTACAGCACTTTAAGGACGTTTAGAGATGACTAAATTCTTCATTTTCTTCTTGTTTGCATTTCTGAATCTCAATAATAAGGAGATTGCATGACAGACGGCTGAGTGTGTCATGACCAACAGAAGAAACATCATCAAAGAGGAGCACTCAGAGCCCTGTGATCCCCAAGTCTGGGTAAGTGCCCAGCGAGGAGGATCCCTCTCCTTTCCTGCCAGAATGACCTCGATGGCTACTGGAGAGGTCTGTGTGCTGTGGAAACAGATGCAGCACCAGTTGAACCAAGCGGGCCCTGTTCTGGATGGTCCCTGCCTCAGAGAGGTGCAGAAACAGCATAGAAGACATGCTGGGGGGTGGGGTGCCTTTAGCTTGCTGGAACAGTGAGGAGGCTGTGGGGCAGAGGGAAAGCTCTGCCCCTTTCAGTGCAGTATAAGCCCAACTTCCGACTGCTGTGCAGAGAGAGGGCACCAGGGACCTTCCTAGACAAGAGCAGGAGTTGGTGTATCAGAAGGAAGCTTGGTCCTTATCTTGACATCATGAGTTTTAGAGTGACTGAAGGAGTGGAAGATGCCGCAAACACTCTGGAGAGCAATACCAACCTGGAGGATTCGGATGACTTCAGACATCATGGGCGCAAGACACCTGGTAGTATAGAAGCCAGGTCCATCCTGCCAAGGAAGAGAACATGAGCTCCCTGGCCCTGCTGCTGGGACTGAGTCTGAAACACTCTACCTTTCCCAGGGTCACTTCAAAGTCATTTGAAAGTCACTGTAAAACTTAAGGTGACTTAAAATCTCAATCAGAATCCTTAAAAATGAAATTGCAGGGGAAGCCGTACTAGGGGTAGCCTGGCTTGAATCAAACAGTACAGCAGATAGTTTCATGGTCACCTTCAAGGTCTGGGATGGCTGGGAGAACCCTGCCACATCCTAGATACTCCCCACTCCCACCTTGACTCAGTGGGACAGTCAATACCACCGTCCATCCTGGAGACAACCCAGGGGAAAATCATATCAAAGTCTGGTCATTTGCCCCAGAATATTTATAAACAAGCCTGGAGGTAAAAGGAGTCTTATTAGAACTTTTCAAAAACTCTGCAGCTCTGTTATACAGCCCCTTACCTTAACCACAATGATGACCTTCCCCTGCTTGAGACCAACTGCTACAGCTGAAGCACTGGTGTCTTTGGAAGTTTTCTCGGTCGTGATAATCTCCAGCAGCTGCATCTTGTCCACGGGAGAGAAGTAGTGCATGCCAATCACCTGGCAAGGGGAACCAAAAGCCAACAGATCGGAGAATGCGGGTGAGGAACCTGAGAGCATTCCTTCTCTGCTAGGAAAACACTAGAAAGAAAGGTGGCTGTGATATAGGAATACTGCTTGACATAGCTGAGTGGTTTGGTTCCATGGGTCTTTGATAAAAGTTTAGTATGTTTAGGGAGAGCACATTGGAATCCTCCTCTTCCATTTGCTTCTAAGGTTTTTCACTACAGACATCTGATCCTCCCAACAATCAGTGCCAAAACCACAGCTCGAGGCCAAACTAGATTTATTGGGGAACGACGGATGAAGGTTCCACTTATATTAATGATACTGATGGTTTAGATAAGAGGATCCAGTTTTTTTGGGCGGGGGTGGGGCAGGCAGAAGAATTAATGTGTTGGGCTGTCAGAGAAGTATTTGCATTTTACACAGATGGGTCTCACCACCAGGATACTAGGTTTAACTAACACTCCTCAACAGTCAGATGCACTTAAGACTCATTAAACCAGCAGTTCTCCAAGTGTAGTACCCGGACCCAACAAGCACTGTCATCACCTGGGAGCGTTAGGCCTGCACATTCTCAGGCCTAGCCCAGCCCTACTGAATCAGAAACTCCATGGGTGGGGCCCAGATTTGTTTTAATAATCCCTCCTGGTGATTCTGATGCGTGCTAAGGTTTCAGAGAAACCCCTCATTGAGCTAACAGTTACATAGTCTTCCCAACAGAACTGTGGTGAAAGAAGTCTAATTCATTAATTTATAGTTTTGCTTTCTCCCTCTCACTTTAGCTATAAGGTACAACAAGTGATATCTGTAATTTTTGGCTGCTCATTATCTACCTGCTCTTCAATACATTTACCACTTATTCCTTACATTTAATCCATTACAACCCTATGAACTGGTCAGCCTAATTATCTAGATGAGGAAAAAAGGTATCAAGAGGTTAGTAGTACAGAGTCAGTCAGCATATGACGGGGTGGGATTCCATCACAGGTCTGTCTATCTCCAATGCCATTATGTAATACACAGATCAAGTAAATGTTATGTAAACTTATCAATCCAAAAGTTGTTTCTAACCCCTAAAGTGTTCTTTTACTTACATCTGAAATACTTAGGACCTGATTCAGACTCAGTACTCCTGAGCAAAAGGAATTAGCCTTTATTGATGTAGAATTTCTATATAATAAAATGCACAGATCTTGAAGTGTTCACATCAATGAGTTTTGACAACTGTATATACATCCATATAATCACTAACCCAAGCAAAATATATTTACATCACTCAGAAAGTTGTGCCAAAGATGACCAACTCATCCTGGATGGCTGGGGATTTCCCAATTTGTGGCACTGAGGGTCCTGTATCCCTTGCTCCCGGGCAAACCAAGATGGTTGGTCACCCTATTTTGTCTTTTTGGCCTTACTTTTAAATGAATGACAAAAGGCAAGCAGGTGAGAAAAGCTGTCCTAGATACTTGGAGGGCAGAACTGCAAAGTGTGATGCTTGCTCTGCTCCGATGGCGGGGAGAGGTTACCATCAAATGAACAGCAACGGCATCGCCTGTACTGATTTTAGATGCCACACAGATGTCTTGAGTGATATGACATGGCCAGACTGTCCATCTGTAGACTATCGGCTGCAACTTCTCCCTATGACCTTTAGCCTGCCATCATTGAGCCTGCCTCTGTCAGGTCCCCGCATCACTTCTAATCTGCTGTGTGCTAGGAAACTAGATTACCTTGCATTAGCAAGCTAGAAGAGTAGGAATAAATAGGCTTTTGTGTTTTCAGTACATAGAATTTGTATTAACACTTTCAGCTGCTTAAAGTTCTTTTATAATTCCTGCCTACCTTCGGCTGGTTCTGGTTAGCAGAGGCTAACTGGTATCCTCCAGAGAAGTGAGTTGTTTTACTTCTCTTTGAATGATTTCACTTCCCCTTAATTACTCTGGTTGAGAGCAAAAATAAATTTCTGGGCATCATTCCAAATACTCACAGAAAG
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CTTGCTTCTGCACTATTGCAGATTTCATCTCTGGGGGATAAAAATGCTTGTCCATCTGGCATAACTTGGACCAGGTGATGCTAGAGCCCCAGAAGGGTAGAACTCTGCCTTTTGTCCATAATCTATAGTCCTAGCCCTTAGAAGGTTCACATGACATCTTTTTTTTTTTTTTTTTTTGAGAAGGGGCCTCGCCATGTTGCCCAGGCTGGCCTCACACTTCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTAAGCAGCTAAGACCATAAGTGGTTGCTACCGCACCTGACTCATAAAATCATTTTTGAAATCGCCAGTGATAAGGGCTCTGTGTTTAGAAAACTTTCTTCCACGAGGGCTTCTGTAACTCTTTGGTCTCAGGAACTGCTTAGAACTTTGTAACTAATGGTGCTAGTTATGTTTCCTTGAGGCTACTCACCTAGGAAGCCCTTGGACACCATCTGTGTCAGCAGTTCTGGGTTTCCACCTCCAAACCGCTCCCCAAAGACTTTGCCCAGATCTTCCGCCACATGTTTCGCTACATCCACACCAACTTCATCCACCAGTGTGGCGGCACCCACAGGAAAGCCAAAGCTTGTGGTCAGGGAATCCAGCTTCTTCGGGTCAACTCCTTCCTGAACAGGAAGCGATGCAGGGACCTCAGGGGAAGGGCAGCCCAAATCCCCCCAAAGGGCTCCCTGTACTGGCTCCAAACACTGCCTTGTGTAAAACCCACTTCTGAGTGTCACCTGACCAGGCCCAGGACTGGTGCTATTTCATTCAGGGAAGCACAAAGAAGTTTGGGGCCACAAGTGGAAAGTCTGAGCCTTCTCTAATCTACAGCACTTTAAGGACGTTTAGAGATGACTAAATTCTTCATTTTCTTCTTGTTTGCATTTCTGAATCTCAATAATAAGGAGATTGCATGACAGACGGCTGAGTGTGTCATGACCAACAGAAGAAACATCATCAAAGAGGAGCACTCAGAGCCCTGTGATCCCCAAGTCTGGGTAAGTGCCCAGCGAGGAGGATCCCTCTCCTTTCCTGCCAGAATGACCTCGATGGCTACTGGAGAGGTCTGTGTGCTGTGGAAACAGATGCAGCACCAGTTGAACCAAGCGGGCCCTGTTCTGGATGGTCCCTGCCTCAGAGAGGTGCAGAAACAGCATAGAAGACATGCTGGGGGGTGGGGTGCCTTTAGCTTGCTGGAACAGTGAGGAGGCTGTGGGGCAGAGGGAAAGCTCTGCCCCTTTCAGTGCAGTATAAGCCCAACTTCCGACTGCTGTGCAGAGAGAGGGCACCAGGGACCTTCCTAGACAAGAGCAGGAGTTGGTGTATCAGAAGGAAGCTTGGTCCTTATCTTGACATCATGAGTTTTAGAGTGACTGAAGGAGTGGAAGATGCCGCAAACACTCTGGAGAGCAATACCAACCTGGAGGATTCGGATGACTTCAGACATCATGGGCGCAAGACACCTGGTAGTATAGAAGCCAGGTCCATCCTGCCAAGGAAGAGAACATGAGCTCCCTGGCCCTGCTGCTGGGACTGAGTCTGAAACACTCTACCTTTCCCAGGGTCACTTCAAAGTCATTTGAAAGTCACTGTAAAACTTAAGGTGACTTAAAATCTCAATCAGAATCCTTAAAAATGAAATTGCAGGGGAAGCCGTACTAGGGGTAGCCTGGCTTGAATCAAACAGTACAGCAGATAGTTTCATGGTCACCTTCAAGGTCTGGGATGGCTGGGAGAACCCTGCCACATCCTAGATACTCCCCACTCCCACCTTGACTCAGTGGGACAGTCAATACCACCGTCCATCCTGGAGACAACCCAGGGGAAAATCATATCAAAGTCTGGTCATTTGCCCCAGAATATTTATAAACAAGCCTGGAGGTAAAAGGAGTCTTATTAGAACTTTTCAAAAACTCTGCAGCTCTGTTATACAGCCCCTTACCTTAACCACAATGATGACCTTCCCCTGCTTGAGACCAACTGCTACAGCTGAAGCACTGGTGTCTTTGGAAGTTTTCTCGGTCGTGATAATCTGCAGCAGCTGCATCTTGTCCACGGGAGAGAAGTAGTGCATGCCAATCACCTGGCAAGGGGAACCAAAAGCCAACAGATCGGAGAATGCGGGTGAGGAACCTGAGAGCATTCCTTCTCTGCTAGGAAAACACTAGAAAGAAAGGTGGCTGTGATATAGGAATACTGCTTGACATAGCTGAGTGGTTTGGTTCCATGGGTCTTTGATAAAAGTTTAGTATGTTTAGGGAGAGCACATTGGAATCCTCCTCTTCCATTTGCTTCTAAGGTTTTTCACTACAGACATCTGATCCTCCCAACAATCAGTGCCAAAACCACAGCTCGAGGCCAAACTAGATTTATTGGGGAACGACGGATGAAGGTTCCACTTATATTAATGATACTGATGGTTTAGATAAGAGGATCCAGTTTTTTTGGGCGGGGGTGGGGCAGGCAGAAGAATTAATGTGTTGGGCTGTCAGAGAAGTATTTGCATTTTACACAGATGGGTCTCACCACCAGGATACTAGGTTTAACTAACACTCCTCAACAGTCAGATGCACTTAAGACTCATTAAACCAGCAGTTCTCCAAGTGTAGTACCCGGACCCAACAAGCACTGTCATCACCTGGGAGCGTTAGGCCTGCACATTCTCAGGCCTAGCCCAGCCCTACTGAATCAGAAACTCCATGGGTGGGGCCCAGATTTGTTTTAATAATCCCTCCTGGTGATTCTGATGCGTGCTAAGGTTTCAGAGAAACCCCTCATTGAGCTAACAGTTACATAGTCTTCCCAACAGAACTGTGGTGAAAGAAGTCTAATTCATTAATTTATAGTTTTGCTTTCTCCCTCTCACTTTAGCTATAAGGTACAACAAGTGATATCTGTAATTTTTGGCTGCTCATTATCTACCTGCTCTTCAATACATTTACCACTTATTCCTTACATTTAATCCATTACAACCCTATGAACTGGTCAGCCTAATTATCTAGATGAGGAAAAAAGGTATCAAGAGGTTAGTAGTACAGAGTCAGTCAGCATATGACGGGGTGGGATTCCATCACAGGTCTGTCTATCTCCAATGCCATTATGTAATACACAGATCAAGTAAATGTTATGTAAACTTATCAATCCAAAAGTTGTTTCTAACCCCTAAAGTGTTCTTTTACTTACATCTGAAATACTTAGGACCTGATTCAGACTCAGTACTCCTGAGCAAAAGGAATTAGCCTTTATTGATGTAGAATTTCTATATAATAAAATGCACAGATCTTGAAGTGTTCACATCAATGAGTTTTGACAACTGTATATACATCCATATAATCACTAACCCAAGCAAAATATATTTACATCACTCAGAAAGTTGTGCCAAAGATGACCAACTCATCCTGGATGGCTGGGGATTTCCCAATTTGTGGCACTGAGGGTCCTGTATCCCTTGCTCCCGGGCAAACCAAGATGGTTGGTCACCCTATTTTGTCTTTTTGGCCTTACTTTTAAATGAATGACAAAAGGCAAGCAGGTGAGAAAAGCTGTCCTAGATACTTGGAGGGCAGAACTGCAAAGTGTGATGCTTGCTCTGCTCCGATGGCGGGGAGAGGTTACCATCAAATGAACAGCAACGGCATCGCCTGTACTGATTTTAGATGCCACACAGATGTCTTGAGTGATATGACATGGCCAGACTGTCCATCTGTAGACTATCGGCTGCAACTTCTCCCTATGACCTTTAGCCTGCCATCATTGAGCCTGCCTCTGTCAGGTCCCCGCATCACTTCTAATCTGCTGTGTGCTAGGAAACTAGATTACCTTGCATTAGCAAGCTAGAAGAGTAGGAATAAATAGGCTTTTGTGTTTTCAGTACATAGAATTTGTATTAACACTTTCAGCTGCTTAAAGTTCTTTTATAATTCCTGCCTACCTTCGGCTGGTTCTGGTTAGCAGAGGCTAACTGGTATCCTCCAGAGAAGTGAGTTGTTTTACTTCTCTTTGAATGATTTCACTTCCCCTTAATTACTCTGGTTGAGAGCAAAAATAAATTTCTGGGCATCATTCCAAATACTCACAGAAAG
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Task1_train_3179
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Assess the clinical impact of this variant on gene GAREM2, HADHA (GRB2 associated regulator of MAPK1 subtype 2| hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha), found on Chromosome 2. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Mitochondrial trifunctional protein deficiency 1
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CTTGCTTCTGCACTATTGCAGATTTCATCTCTGGGGGATAAAAATGCTTGTCCATCTGGCATAACTTGGACCAGGTGATGCTAGAGCCCCAGAAGGGTAGAACTCTGCCTTTTGTCCATAATCTATAGTCCTAGCCCTTAGAAGGTTCACATGACATCTTTTTTTTTTTTTTTTTTTGAGAAGGGGCCTCGCCATGTTGCCCAGGCTGGCCTCACACTTCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTAAGCAGCTAAGACCATAAGTGGTTGCTACCGCACCTGACTCATAAAATCATTTTTGAAATCGCCAGTGATAAGGGCTCTGTGTTTAGAAAACTTTCTTCCACGAGGGCTTCTGTAACTCTTTGGTCTCAGGAACTGCTTAGAACTTTGTAACTAATGGTGCTAGTTATGTTTCCTTGAGGCTACTCACCTAGGAAGCCCTTGGACACCATCTGTGTCAGCAGTTCTGGGTTTCCACCTCCAAACCGCTCCCCAAAGACTTTGCCCAGATCTTCCGCCACATGTTTCGCTACATCCACACCAACTTCATCCACCAGTGTGGCGGCACCCACAGGAAAGCCAAAGCTTGTGGTCAGGGAATCCAGCTTCTTCGGGTCAACTCCTTCCTGAACAGGAAGCGATGCAGGGACCTCAGGGGAAGGGCAGCCCAAATCCCCCCAAAGGGCTCCCTGTACTGGCTCCAAACACTGCCTTGTGTAAAACCCACTTCTGAGTGTCACCTGACCAGGCCCAGGACTGGTGCTATTTCATTCAGGGAAGCACAAAGAAGTTTGGGGCCACAAGTGGAAAGTCTGAGCCTTCTCTAATCTACAGCACTTTAAGGACGTTTAGAGATGACTAAATTCTTCATTTTCTTCTTGTTTGCATTTCTGAATCTCAATAATAAGGAGATTGCATGACAGACGGCTGAGTGTGTCATGACCAACAGAAGAAACATCATCAAAGAGGAGCACTCAGAGCCCTGTGATCCCCAAGTCTGGGTAAGTGCCCAGCGAGGAGGATCCCTCTCCTTTCCTGCCAGAATGACCTCGATGGCTACTGGAGAGGTCTGTGTGCTGTGGAAACAGATGCAGCACCAGTTGAACCAAGCGGGCCCTGTTCTGGATGGTCCCTGCCTCAGAGAGGTGCAGAAACAGCATAGAAGACATGCTGGGGGGTGGGGTGCCTTTAGCTTGCTGGAACAGTGAGGAGGCTGTGGGGCAGAGGGAAAGCTCTGCCCCTTTCAGTGCAGTATAAGCCCAACTTCCGACTGCTGTGCAGAGAGAGGGCACCAGGGACCTTCCTAGACAAGAGCAGGAGTTGGTGTATCAGAAGGAAGCTTGGTCCTTATCTTGACATCATGAGTTTTAGAGTGACTGAAGGAGTGGAAGATGCCGCAAACACTCTGGAGAGCAATACCAACCTGGAGGATTCGGATGACTTCAGACATCATGGGCGCAAGACACCTGGTAGTATAGAAGCCAGGTCCATCCTGCCAAGGAAGAGAACATGAGCTCCCTGGCCCTGCTGCTGGGACTGAGTCTGAAACACTCTACCTTTCCCAGGGTCACTTCAAAGTCATTTGAAAGTCACTGTAAAACTTAAGGTGACTTAAAATCTCAATCAGAATCCTTAAAAATGAAATTGCAGGGGAAGCCGTACTAGGGGTAGCCTGGCTTGAATCAAACAGTACAGCAGATAGTTTCATGGTCACCTTCAAGGTCTGGGATGGCTGGGAGAACCCTGCCACATCCTAGATACTCCCCACTCCCACCTTGACTCAGTGGGACAGTCAATACCACCGTCCATCCTGGAGACAACCCAGGGGAAAATCATATCAAAGTCTGGTCATTTGCCCCAGAATATTTATAAACAAGCCTGGAGGTAAAAGGAGTCTTATTAGAACTTTTCAAAAACTCTGCAGCTCTGTTATACAGCCCCTTACCTTAACCACAATGATGACCTTCCCCTGCTTGAGACCAACTGCTACAGCTGAAGCACTGGTGTCTTTGGAAGTTTTCTCGGTCGTGATAATCTCCAGCAGCTGCATCTTGTCCACGGGAGAGAAGTAGTGCATGCCAATCACCTGGCAAGGGGAACCAAAAGCCAACAGATCGGAGAATGCGGGTGAGGAACCTGAGAGCATTCCTTCTCTGCTAGGAAAACACTAGAAAGAAAGGTGGCTGTGATATAGGAATACTGCTTGACATAGCTGAGTGGTTTGGTTCCATGGGTCTTTGATAAAAGTTTAGTATGTTTAGGGAGAGCACATTGGAATCCTCCTCTTCCATTTGCTTCTAAGGTTTTTCACTACAGACATCTGATCCTCCCAACAATCAGTGCCAAAACCACAGCTCGAGGCCAAACTAGATTTATTGGGGAACGACGGATGAAGGTTCCACTTATATTAATGATACTGATGGTTTAGATAAGAGGATCCAGTTTTTTTGGGCGGGGGTGGGGCAGGCAGAAGAATTAATGTGTTGGGCTGTCAGAGAAGTATTTGCATTTTACACAGATGGGTCTCACCACCAGGATACTAGGTTTAACTAACACTCCTCAACAGTCAGATGCACTTAAGACTCATTAAACCAGCAGTTCTCCAAGTGTAGTACCCGGACCCAACAAGCACTGTCATCACCTGGGAGCGTTAGGCCTGCACATTCTCAGGCCTAGCCCAGCCCTACTGAATCAGAAACTCCATGGGTGGGGCCCAGATTTGTTTTAATAATCCCTCCTGGTGATTCTGATGCGTGCTAAGGTTTCAGAGAAACCCCTCATTGAGCTAACAGTTACATAGTCTTCCCAACAGAACTGTGGTGAAAGAAGTCTAATTCATTAATTTATAGTTTTGCTTTCTCCCTCTCACTTTAGCTATAAGGTACAACAAGTGATATCTGTAATTTTTGGCTGCTCATTATCTACCTGCTCTTCAATACATTTACCACTTATTCCTTACATTTAATCCATTACAACCCTATGAACTGGTCAGCCTAATTATCTAGATGAGGAAAAAAGGTATCAAGAGGTTAGTAGTACAGAGTCAGTCAGCATATGACGGGGTGGGATTCCATCACAGGTCTGTCTATCTCCAATGCCATTATGTAATACACAGATCAAGTAAATGTTATGTAAACTTATCAATCCAAAAGTTGTTTCTAACCCCTAAAGTGTTCTTTTACTTACATCTGAAATACTTAGGACCTGATTCAGACTCAGTACTCCTGAGCAAAAGGAATTAGCCTTTATTGATGTAGAATTTCTATATAATAAAATGCACAGATCTTGAAGTGTTCACATCAATGAGTTTTGACAACTGTATATACATCCATATAATCACTAACCCAAGCAAAATATATTTACATCACTCAGAAAGTTGTGCCAAAGATGACCAACTCATCCTGGATGGCTGGGGATTTCCCAATTTGTGGCACTGAGGGTCCTGTATCCCTTGCTCCCGGGCAAACCAAGATGGTTGGTCACCCTATTTTGTCTTTTTGGCCTTACTTTTAAATGAATGACAAAAGGCAAGCAGGTGAGAAAAGCTGTCCTAGATACTTGGAGGGCAGAACTGCAAAGTGTGATGCTTGCTCTGCTCCGATGGCGGGGAGAGGTTACCATCAAATGAACAGCAACGGCATCGCCTGTACTGATTTTAGATGCCACACAGATGTCTTGAGTGATATGACATGGCCAGACTGTCCATCTGTAGACTATCGGCTGCAACTTCTCCCTATGACCTTTAGCCTGCCATCATTGAGCCTGCCTCTGTCAGGTCCCCGCATCACTTCTAATCTGCTGTGTGCTAGGAAACTAGATTACCTTGCATTAGCAAGCTAGAAGAGTAGGAATAAATAGGCTTTTGTGTTTTCAGTACATAGAATTTGTATTAACACTTTCAGCTGCTTAAAGTTCTTTTATAATTCCTGCCTACCTTCGGCTGGTTCTGGTTAGCAGAGGCTAACTGGTATCCTCCAGAGAAGTGAGTTGTTTTACTTCTCTTTGAATGATTTCACTTCCCCTTAATTACTCTGGTTGAGAGCAAAAATAAATTTCTGGGCATCATTCCAAATACTCACAGAAAG
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CTTGCTTCTGCACTATTGCAGATTTCATCTCTGGGGGATAAAAATGCTTGTCCATCTGGCATAACTTGGACCAGGTGATGCTAGAGCCCCAGAAGGGTAGAACTCTGCCTTTTGTCCATAATCTATAGTCCTAGCCCTTAGAAGGTTCACATGACATCTTTTTTTTTTTTTTTTTTTGAGAAGGGGCCTCGCCATGTTGCCCAGGCTGGCCTCACACTTCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTAAGCAGCTAAGACCATAAGTGGTTGCTACCGCACCTGACTCATAAAATCATTTTTGAAATCGCCAGTGATAAGGGCTCTGTGTTTAGAAAACTTTCTTCCACGAGGGCTTCTGTAACTCTTTGGTCTCAGGAACTGCTTAGAACTTTGTAACTAATGGTGCTAGTTATGTTTCCTTGAGGCTACTCACCTAGGAAGCCCTTGGACACCATCTGTGTCAGCAGTTCTGGGTTTCCACCTCCAAACCGCTCCCCAAAGACTTTGCCCAGATCTTCCGCCACATGTTTCGCTACATCCACACCAACTTCATCCACCAGTGTGGCGGCACCCACAGGAAAGCCAAAGCTTGTGGTCAGGGAATCCAGCTTCTTCGGGTCAACTCCTTCCTGAACAGGAAGCGATGCAGGGACCTCAGGGGAAGGGCAGCCCAAATCCCCCCAAAGGGCTCCCTGTACTGGCTCCAAACACTGCCTTGTGTAAAACCCACTTCTGAGTGTCACCTGACCAGGCCCAGGACTGGTGCTATTTCATTCAGGGAAGCACAAAGAAGTTTGGGGCCACAAGTGGAAAGTCTGAGCCTTCTCTAATCTACAGCACTTTAAGGACGTTTAGAGATGACTAAATTCTTCATTTTCTTCTTGTTTGCATTTCTGAATCTCAATAATAAGGAGATTGCATGACAGACGGCTGAGTGTGTCATGACCAACAGAAGAAACATCATCAAAGAGGAGCACTCAGAGCCCTGTGATCCCCAAGTCTGGGTAAGTGCCCAGCGAGGAGGATCCCTCTCCTTTCCTGCCAGAATGACCTCGATGGCTACTGGAGAGGTCTGTGTGCTGTGGAAACAGATGCAGCACCAGTTGAACCAAGCGGGCCCTGTTCTGGATGGTCCCTGCCTCAGAGAGGTGCAGAAACAGCATAGAAGACATGCTGGGGGGTGGGGTGCCTTTAGCTTGCTGGAACAGTGAGGAGGCTGTGGGGCAGAGGGAAAGCTCTGCCCCTTTCAGTGCAGTATAAGCCCAACTTCCGACTGCTGTGCAGAGAGAGGGCACCAGGGACCTTCCTAGACAAGAGCAGGAGTTGGTGTATCAGAAGGAAGCTTGGTCCTTATCTTGACATCATGAGTTTTAGAGTGACTGAAGGAGTGGAAGATGCCGCAAACACTCTGGAGAGCAATACCAACCTGGAGGATTCGGATGACTTCAGACATCATGGGCGCAAGACACCTGGTAGTATAGAAGCCAGGTCCATCCTGCCAAGGAAGAGAACATGAGCTCCCTGGCCCTGCTGCTGGGACTGAGTCTGAAACACTCTACCTTTCCCAGGGTCACTTCAAAGTCATTTGAAAGTCACTGTAAAACTTAAGGTGACTTAAAATCTCAATCAGAATCCTTAAAAATGAAATTGCAGGGGAAGCCGTACTAGGGGTAGCCTGGCTTGAATCAAACAGTACAGCAGATAGTTTCATGGTCACCTTCAAGGTCTGGGATGGCTGGGAGAACCCTGCCACATCCTAGATACTCCCCACTCCCACCTTGACTCAGTGGGACAGTCAATACCACCGTCCATCCTGGAGACAACCCAGGGGAAAATCATATCAAAGTCTGGTCATTTGCCCCAGAATATTTATAAACAAGCCTGGAGGTAAAAGGAGTCTTATTAGAACTTTTCAAAAACTCTGCAGCTCTGTTATACAGCCCCTTACCTTAACCACAATGATGACCTTCCCCTGCTTGAGACCAACTGCTACAGCTGAAGCACTGGTGTCTTTGGAAGTTTTCTCGGTCGTGATAATCTGCAGCAGCTGCATCTTGTCCACGGGAGAGAAGTAGTGCATGCCAATCACCTGGCAAGGGGAACCAAAAGCCAACAGATCGGAGAATGCGGGTGAGGAACCTGAGAGCATTCCTTCTCTGCTAGGAAAACACTAGAAAGAAAGGTGGCTGTGATATAGGAATACTGCTTGACATAGCTGAGTGGTTTGGTTCCATGGGTCTTTGATAAAAGTTTAGTATGTTTAGGGAGAGCACATTGGAATCCTCCTCTTCCATTTGCTTCTAAGGTTTTTCACTACAGACATCTGATCCTCCCAACAATCAGTGCCAAAACCACAGCTCGAGGCCAAACTAGATTTATTGGGGAACGACGGATGAAGGTTCCACTTATATTAATGATACTGATGGTTTAGATAAGAGGATCCAGTTTTTTTGGGCGGGGGTGGGGCAGGCAGAAGAATTAATGTGTTGGGCTGTCAGAGAAGTATTTGCATTTTACACAGATGGGTCTCACCACCAGGATACTAGGTTTAACTAACACTCCTCAACAGTCAGATGCACTTAAGACTCATTAAACCAGCAGTTCTCCAAGTGTAGTACCCGGACCCAACAAGCACTGTCATCACCTGGGAGCGTTAGGCCTGCACATTCTCAGGCCTAGCCCAGCCCTACTGAATCAGAAACTCCATGGGTGGGGCCCAGATTTGTTTTAATAATCCCTCCTGGTGATTCTGATGCGTGCTAAGGTTTCAGAGAAACCCCTCATTGAGCTAACAGTTACATAGTCTTCCCAACAGAACTGTGGTGAAAGAAGTCTAATTCATTAATTTATAGTTTTGCTTTCTCCCTCTCACTTTAGCTATAAGGTACAACAAGTGATATCTGTAATTTTTGGCTGCTCATTATCTACCTGCTCTTCAATACATTTACCACTTATTCCTTACATTTAATCCATTACAACCCTATGAACTGGTCAGCCTAATTATCTAGATGAGGAAAAAAGGTATCAAGAGGTTAGTAGTACAGAGTCAGTCAGCATATGACGGGGTGGGATTCCATCACAGGTCTGTCTATCTCCAATGCCATTATGTAATACACAGATCAAGTAAATGTTATGTAAACTTATCAATCCAAAAGTTGTTTCTAACCCCTAAAGTGTTCTTTTACTTACATCTGAAATACTTAGGACCTGATTCAGACTCAGTACTCCTGAGCAAAAGGAATTAGCCTTTATTGATGTAGAATTTCTATATAATAAAATGCACAGATCTTGAAGTGTTCACATCAATGAGTTTTGACAACTGTATATACATCCATATAATCACTAACCCAAGCAAAATATATTTACATCACTCAGAAAGTTGTGCCAAAGATGACCAACTCATCCTGGATGGCTGGGGATTTCCCAATTTGTGGCACTGAGGGTCCTGTATCCCTTGCTCCCGGGCAAACCAAGATGGTTGGTCACCCTATTTTGTCTTTTTGGCCTTACTTTTAAATGAATGACAAAAGGCAAGCAGGTGAGAAAAGCTGTCCTAGATACTTGGAGGGCAGAACTGCAAAGTGTGATGCTTGCTCTGCTCCGATGGCGGGGAGAGGTTACCATCAAATGAACAGCAACGGCATCGCCTGTACTGATTTTAGATGCCACACAGATGTCTTGAGTGATATGACATGGCCAGACTGTCCATCTGTAGACTATCGGCTGCAACTTCTCCCTATGACCTTTAGCCTGCCATCATTGAGCCTGCCTCTGTCAGGTCCCCGCATCACTTCTAATCTGCTGTGTGCTAGGAAACTAGATTACCTTGCATTAGCAAGCTAGAAGAGTAGGAATAAATAGGCTTTTGTGTTTTCAGTACATAGAATTTGTATTAACACTTTCAGCTGCTTAAAGTTCTTTTATAATTCCTGCCTACCTTCGGCTGGTTCTGGTTAGCAGAGGCTAACTGGTATCCTCCAGAGAAGTGAGTTGTTTTACTTCTCTTTGAATGATTTCACTTCCCCTTAATTACTCTGGTTGAGAGCAAAAATAAATTTCTGGGCATCATTCCAAATACTCACAGAAAG
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Task1_train_3180
|
A genetic alteration is present in GAREM2, HADHA (GRB2 associated regulator of MAPK1 subtype 2| hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha) on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Inborn genetic diseases
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CTTGCTTCTGCACTATTGCAGATTTCATCTCTGGGGGATAAAAATGCTTGTCCATCTGGCATAACTTGGACCAGGTGATGCTAGAGCCCCAGAAGGGTAGAACTCTGCCTTTTGTCCATAATCTATAGTCCTAGCCCTTAGAAGGTTCACATGACATCTTTTTTTTTTTTTTTTTTTGAGAAGGGGCCTCGCCATGTTGCCCAGGCTGGCCTCACACTTCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTAAGCAGCTAAGACCATAAGTGGTTGCTACCGCACCTGACTCATAAAATCATTTTTGAAATCGCCAGTGATAAGGGCTCTGTGTTTAGAAAACTTTCTTCCACGAGGGCTTCTGTAACTCTTTGGTCTCAGGAACTGCTTAGAACTTTGTAACTAATGGTGCTAGTTATGTTTCCTTGAGGCTACTCACCTAGGAAGCCCTTGGACACCATCTGTGTCAGCAGTTCTGGGTTTCCACCTCCAAACCGCTCCCCAAAGACTTTGCCCAGATCTTCCGCCACATGTTTCGCTACATCCACACCAACTTCATCCACCAGTGTGGCGGCACCCACAGGAAAGCCAAAGCTTGTGGTCAGGGAATCCAGCTTCTTCGGGTCAACTCCTTCCTGAACAGGAAGCGATGCAGGGACCTCAGGGGAAGGGCAGCCCAAATCCCCCCAAAGGGCTCCCTGTACTGGCTCCAAACACTGCCTTGTGTAAAACCCACTTCTGAGTGTCACCTGACCAGGCCCAGGACTGGTGCTATTTCATTCAGGGAAGCACAAAGAAGTTTGGGGCCACAAGTGGAAAGTCTGAGCCTTCTCTAATCTACAGCACTTTAAGGACGTTTAGAGATGACTAAATTCTTCATTTTCTTCTTGTTTGCATTTCTGAATCTCAATAATAAGGAGATTGCATGACAGACGGCTGAGTGTGTCATGACCAACAGAAGAAACATCATCAAAGAGGAGCACTCAGAGCCCTGTGATCCCCAAGTCTGGGTAAGTGCCCAGCGAGGAGGATCCCTCTCCTTTCCTGCCAGAATGACCTCGATGGCTACTGGAGAGGTCTGTGTGCTGTGGAAACAGATGCAGCACCAGTTGAACCAAGCGGGCCCTGTTCTGGATGGTCCCTGCCTCAGAGAGGTGCAGAAACAGCATAGAAGACATGCTGGGGGGTGGGGTGCCTTTAGCTTGCTGGAACAGTGAGGAGGCTGTGGGGCAGAGGGAAAGCTCTGCCCCTTTCAGTGCAGTATAAGCCCAACTTCCGACTGCTGTGCAGAGAGAGGGCACCAGGGACCTTCCTAGACAAGAGCAGGAGTTGGTGTATCAGAAGGAAGCTTGGTCCTTATCTTGACATCATGAGTTTTAGAGTGACTGAAGGAGTGGAAGATGCCGCAAACACTCTGGAGAGCAATACCAACCTGGAGGATTCGGATGACTTCAGACATCATGGGCGCAAGACACCTGGTAGTATAGAAGCCAGGTCCATCCTGCCAAGGAAGAGAACATGAGCTCCCTGGCCCTGCTGCTGGGACTGAGTCTGAAACACTCTACCTTTCCCAGGGTCACTTCAAAGTCATTTGAAAGTCACTGTAAAACTTAAGGTGACTTAAAATCTCAATCAGAATCCTTAAAAATGAAATTGCAGGGGAAGCCGTACTAGGGGTAGCCTGGCTTGAATCAAACAGTACAGCAGATAGTTTCATGGTCACCTTCAAGGTCTGGGATGGCTGGGAGAACCCTGCCACATCCTAGATACTCCCCACTCCCACCTTGACTCAGTGGGACAGTCAATACCACCGTCCATCCTGGAGACAACCCAGGGGAAAATCATATCAAAGTCTGGTCATTTGCCCCAGAATATTTATAAACAAGCCTGGAGGTAAAAGGAGTCTTATTAGAACTTTTCAAAAACTCTGCAGCTCTGTTATACAGCCCCTTACCTTAACCACAATGATGACCTTCCCCTGCTTGAGACCAACTGCTACAGCTGAAGCACTGGTGTCTTTGGAAGTTTTCTCGGTCGTGATAATCTCCAGCAGCTGCATCTTGTCCACGGGAGAGAAGTAGTGCATGCCAATCACCTGGCAAGGGGAACCAAAAGCCAACAGATCGGAGAATGCGGGTGAGGAACCTGAGAGCATTCCTTCTCTGCTAGGAAAACACTAGAAAGAAAGGTGGCTGTGATATAGGAATACTGCTTGACATAGCTGAGTGGTTTGGTTCCATGGGTCTTTGATAAAAGTTTAGTATGTTTAGGGAGAGCACATTGGAATCCTCCTCTTCCATTTGCTTCTAAGGTTTTTCACTACAGACATCTGATCCTCCCAACAATCAGTGCCAAAACCACAGCTCGAGGCCAAACTAGATTTATTGGGGAACGACGGATGAAGGTTCCACTTATATTAATGATACTGATGGTTTAGATAAGAGGATCCAGTTTTTTTGGGCGGGGGTGGGGCAGGCAGAAGAATTAATGTGTTGGGCTGTCAGAGAAGTATTTGCATTTTACACAGATGGGTCTCACCACCAGGATACTAGGTTTAACTAACACTCCTCAACAGTCAGATGCACTTAAGACTCATTAAACCAGCAGTTCTCCAAGTGTAGTACCCGGACCCAACAAGCACTGTCATCACCTGGGAGCGTTAGGCCTGCACATTCTCAGGCCTAGCCCAGCCCTACTGAATCAGAAACTCCATGGGTGGGGCCCAGATTTGTTTTAATAATCCCTCCTGGTGATTCTGATGCGTGCTAAGGTTTCAGAGAAACCCCTCATTGAGCTAACAGTTACATAGTCTTCCCAACAGAACTGTGGTGAAAGAAGTCTAATTCATTAATTTATAGTTTTGCTTTCTCCCTCTCACTTTAGCTATAAGGTACAACAAGTGATATCTGTAATTTTTGGCTGCTCATTATCTACCTGCTCTTCAATACATTTACCACTTATTCCTTACATTTAATCCATTACAACCCTATGAACTGGTCAGCCTAATTATCTAGATGAGGAAAAAAGGTATCAAGAGGTTAGTAGTACAGAGTCAGTCAGCATATGACGGGGTGGGATTCCATCACAGGTCTGTCTATCTCCAATGCCATTATGTAATACACAGATCAAGTAAATGTTATGTAAACTTATCAATCCAAAAGTTGTTTCTAACCCCTAAAGTGTTCTTTTACTTACATCTGAAATACTTAGGACCTGATTCAGACTCAGTACTCCTGAGCAAAAGGAATTAGCCTTTATTGATGTAGAATTTCTATATAATAAAATGCACAGATCTTGAAGTGTTCACATCAATGAGTTTTGACAACTGTATATACATCCATATAATCACTAACCCAAGCAAAATATATTTACATCACTCAGAAAGTTGTGCCAAAGATGACCAACTCATCCTGGATGGCTGGGGATTTCCCAATTTGTGGCACTGAGGGTCCTGTATCCCTTGCTCCCGGGCAAACCAAGATGGTTGGTCACCCTATTTTGTCTTTTTGGCCTTACTTTTAAATGAATGACAAAAGGCAAGCAGGTGAGAAAAGCTGTCCTAGATACTTGGAGGGCAGAACTGCAAAGTGTGATGCTTGCTCTGCTCCGATGGCGGGGAGAGGTTACCATCAAATGAACAGCAACGGCATCGCCTGTACTGATTTTAGATGCCACACAGATGTCTTGAGTGATATGACATGGCCAGACTGTCCATCTGTAGACTATCGGCTGCAACTTCTCCCTATGACCTTTAGCCTGCCATCATTGAGCCTGCCTCTGTCAGGTCCCCGCATCACTTCTAATCTGCTGTGTGCTAGGAAACTAGATTACCTTGCATTAGCAAGCTAGAAGAGTAGGAATAAATAGGCTTTTGTGTTTTCAGTACATAGAATTTGTATTAACACTTTCAGCTGCTTAAAGTTCTTTTATAATTCCTGCCTACCTTCGGCTGGTTCTGGTTAGCAGAGGCTAACTGGTATCCTCCAGAGAAGTGAGTTGTTTTACTTCTCTTTGAATGATTTCACTTCCCCTTAATTACTCTGGTTGAGAGCAAAAATAAATTTCTGGGCATCATTCCAAATACTCACAGAAAG
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CTTGCTTCTGCACTATTGCAGATTTCATCTCTGGGGGATAAAAATGCTTGTCCATCTGGCATAACTTGGACCAGGTGATGCTAGAGCCCCAGAAGGGTAGAACTCTGCCTTTTGTCCATAATCTATAGTCCTAGCCCTTAGAAGGTTCACATGACATCTTTTTTTTTTTTTTTTTTTGAGAAGGGGCCTCGCCATGTTGCCCAGGCTGGCCTCACACTTCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTAAGCAGCTAAGACCATAAGTGGTTGCTACCGCACCTGACTCATAAAATCATTTTTGAAATCGCCAGTGATAAGGGCTCTGTGTTTAGAAAACTTTCTTCCACGAGGGCTTCTGTAACTCTTTGGTCTCAGGAACTGCTTAGAACTTTGTAACTAATGGTGCTAGTTATGTTTCCTTGAGGCTACTCACCTAGGAAGCCCTTGGACACCATCTGTGTCAGCAGTTCTGGGTTTCCACCTCCAAACCGCTCCCCAAAGACTTTGCCCAGATCTTCCGCCACATGTTTCGCTACATCCACACCAACTTCATCCACCAGTGTGGCGGCACCCACAGGAAAGCCAAAGCTTGTGGTCAGGGAATCCAGCTTCTTCGGGTCAACTCCTTCCTGAACAGGAAGCGATGCAGGGACCTCAGGGGAAGGGCAGCCCAAATCCCCCCAAAGGGCTCCCTGTACTGGCTCCAAACACTGCCTTGTGTAAAACCCACTTCTGAGTGTCACCTGACCAGGCCCAGGACTGGTGCTATTTCATTCAGGGAAGCACAAAGAAGTTTGGGGCCACAAGTGGAAAGTCTGAGCCTTCTCTAATCTACAGCACTTTAAGGACGTTTAGAGATGACTAAATTCTTCATTTTCTTCTTGTTTGCATTTCTGAATCTCAATAATAAGGAGATTGCATGACAGACGGCTGAGTGTGTCATGACCAACAGAAGAAACATCATCAAAGAGGAGCACTCAGAGCCCTGTGATCCCCAAGTCTGGGTAAGTGCCCAGCGAGGAGGATCCCTCTCCTTTCCTGCCAGAATGACCTCGATGGCTACTGGAGAGGTCTGTGTGCTGTGGAAACAGATGCAGCACCAGTTGAACCAAGCGGGCCCTGTTCTGGATGGTCCCTGCCTCAGAGAGGTGCAGAAACAGCATAGAAGACATGCTGGGGGGTGGGGTGCCTTTAGCTTGCTGGAACAGTGAGGAGGCTGTGGGGCAGAGGGAAAGCTCTGCCCCTTTCAGTGCAGTATAAGCCCAACTTCCGACTGCTGTGCAGAGAGAGGGCACCAGGGACCTTCCTAGACAAGAGCAGGAGTTGGTGTATCAGAAGGAAGCTTGGTCCTTATCTTGACATCATGAGTTTTAGAGTGACTGAAGGAGTGGAAGATGCCGCAAACACTCTGGAGAGCAATACCAACCTGGAGGATTCGGATGACTTCAGACATCATGGGCGCAAGACACCTGGTAGTATAGAAGCCAGGTCCATCCTGCCAAGGAAGAGAACATGAGCTCCCTGGCCCTGCTGCTGGGACTGAGTCTGAAACACTCTACCTTTCCCAGGGTCACTTCAAAGTCATTTGAAAGTCACTGTAAAACTTAAGGTGACTTAAAATCTCAATCAGAATCCTTAAAAATGAAATTGCAGGGGAAGCCGTACTAGGGGTAGCCTGGCTTGAATCAAACAGTACAGCAGATAGTTTCATGGTCACCTTCAAGGTCTGGGATGGCTGGGAGAACCCTGCCACATCCTAGATACTCCCCACTCCCACCTTGACTCAGTGGGACAGTCAATACCACCGTCCATCCTGGAGACAACCCAGGGGAAAATCATATCAAAGTCTGGTCATTTGCCCCAGAATATTTATAAACAAGCCTGGAGGTAAAAGGAGTCTTATTAGAACTTTTCAAAAACTCTGCAGCTCTGTTATACAGCCCCTTACCTTAACCACAATGATGACCTTCCCCTGCTTGAGACCAACTGCTACAGCTGAAGCACTGGTGTCTTTGGAAGTTTTCTCGGTCGTGATAATCTGCAGCAGCTGCATCTTGTCCACGGGAGAGAAGTAGTGCATGCCAATCACCTGGCAAGGGGAACCAAAAGCCAACAGATCGGAGAATGCGGGTGAGGAACCTGAGAGCATTCCTTCTCTGCTAGGAAAACACTAGAAAGAAAGGTGGCTGTGATATAGGAATACTGCTTGACATAGCTGAGTGGTTTGGTTCCATGGGTCTTTGATAAAAGTTTAGTATGTTTAGGGAGAGCACATTGGAATCCTCCTCTTCCATTTGCTTCTAAGGTTTTTCACTACAGACATCTGATCCTCCCAACAATCAGTGCCAAAACCACAGCTCGAGGCCAAACTAGATTTATTGGGGAACGACGGATGAAGGTTCCACTTATATTAATGATACTGATGGTTTAGATAAGAGGATCCAGTTTTTTTGGGCGGGGGTGGGGCAGGCAGAAGAATTAATGTGTTGGGCTGTCAGAGAAGTATTTGCATTTTACACAGATGGGTCTCACCACCAGGATACTAGGTTTAACTAACACTCCTCAACAGTCAGATGCACTTAAGACTCATTAAACCAGCAGTTCTCCAAGTGTAGTACCCGGACCCAACAAGCACTGTCATCACCTGGGAGCGTTAGGCCTGCACATTCTCAGGCCTAGCCCAGCCCTACTGAATCAGAAACTCCATGGGTGGGGCCCAGATTTGTTTTAATAATCCCTCCTGGTGATTCTGATGCGTGCTAAGGTTTCAGAGAAACCCCTCATTGAGCTAACAGTTACATAGTCTTCCCAACAGAACTGTGGTGAAAGAAGTCTAATTCATTAATTTATAGTTTTGCTTTCTCCCTCTCACTTTAGCTATAAGGTACAACAAGTGATATCTGTAATTTTTGGCTGCTCATTATCTACCTGCTCTTCAATACATTTACCACTTATTCCTTACATTTAATCCATTACAACCCTATGAACTGGTCAGCCTAATTATCTAGATGAGGAAAAAAGGTATCAAGAGGTTAGTAGTACAGAGTCAGTCAGCATATGACGGGGTGGGATTCCATCACAGGTCTGTCTATCTCCAATGCCATTATGTAATACACAGATCAAGTAAATGTTATGTAAACTTATCAATCCAAAAGTTGTTTCTAACCCCTAAAGTGTTCTTTTACTTACATCTGAAATACTTAGGACCTGATTCAGACTCAGTACTCCTGAGCAAAAGGAATTAGCCTTTATTGATGTAGAATTTCTATATAATAAAATGCACAGATCTTGAAGTGTTCACATCAATGAGTTTTGACAACTGTATATACATCCATATAATCACTAACCCAAGCAAAATATATTTACATCACTCAGAAAGTTGTGCCAAAGATGACCAACTCATCCTGGATGGCTGGGGATTTCCCAATTTGTGGCACTGAGGGTCCTGTATCCCTTGCTCCCGGGCAAACCAAGATGGTTGGTCACCCTATTTTGTCTTTTTGGCCTTACTTTTAAATGAATGACAAAAGGCAAGCAGGTGAGAAAAGCTGTCCTAGATACTTGGAGGGCAGAACTGCAAAGTGTGATGCTTGCTCTGCTCCGATGGCGGGGAGAGGTTACCATCAAATGAACAGCAACGGCATCGCCTGTACTGATTTTAGATGCCACACAGATGTCTTGAGTGATATGACATGGCCAGACTGTCCATCTGTAGACTATCGGCTGCAACTTCTCCCTATGACCTTTAGCCTGCCATCATTGAGCCTGCCTCTGTCAGGTCCCCGCATCACTTCTAATCTGCTGTGTGCTAGGAAACTAGATTACCTTGCATTAGCAAGCTAGAAGAGTAGGAATAAATAGGCTTTTGTGTTTTCAGTACATAGAATTTGTATTAACACTTTCAGCTGCTTAAAGTTCTTTTATAATTCCTGCCTACCTTCGGCTGGTTCTGGTTAGCAGAGGCTAACTGGTATCCTCCAGAGAAGTGAGTTGTTTTACTTCTCTTTGAATGATTTCACTTCCCCTTAATTACTCTGGTTGAGAGCAAAAATAAATTTCTGGGCATCATTCCAAATACTCACAGAAAG
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Task1_train_3181
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This is a variant in HADHA (hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha), located on Chromosome 2. Is this mutation a likely cause of disease or not?
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Pathogenic; Mitochondrial trifunctional protein deficiency
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GCTCTTCACTTATTAGAACTGATGGAATGCGTTATTCATATGAAAGATTAATTTGTAAAGAGACAATAGATAAGGAATTCCAGTTATCATCCAAGGCAAGGGGGAAGGGGCCTAGAGAAATAATAGTGGAAGAATTACTGATAACTGGGAAAGCAGGAAGGGGGACACCCTATCTACAATGTTCATTATTCAATTTTCAGTTTAACATATTTTGCCTTGGGTATCTTATAGCTTATTCTTCATTTCTAAGATGATGCTAACTTTTTCTTCAATGTCTTTCCCAAGTTAGGTCAACTCCTATATTTATCCTGTTTTTCTGCCCATTTAGTTCTGAGTTTTTGAATTTTTGATTCAAGGCAGTTTTTTTTCTGATTTGCAAATGCTGATTTAAGAATATTTAAATCAAGTTCTGTTATAGTCTTCTTCTGCATTGTGGTTGTTTTTTGGGGGACAGAATTTTCATAAACTTCAGTATTCTGATTCTCATTTTCTCTTTTTTTCTTATATTAGCTTTTTGTGGGTGCTGTCTTTCTTTTTTGCATACTGACTACACAATACCACCTTTTCCAAGGGGTATTTTATTGTTACATGGAGATGTATACTACCTCCATACGACAATAAATGCTCAGGCAGGAGGAGTCTGGAGTTAATAAATTAAGACACTAGGTTTTTTAATTTAAGAGTACCCTCTTCTGTTGCAAAGTGCAGTTTCTTTAATTGACAGCATTCTTTGTGTACATGGAGGGATACGGTGGGGAGGGGTAGAAGTTGGTGTATCTAGGTTTTGTAATTTTGCAGGATGCTTCTCTGCCTTCTATTTATGCCGTGCACAGGGAATGGGTGGCTTTGTTTTCCTTATTAATCTGTTGATTTTTGTAGAATGTGTAAAGAGATACAGGTTTAAGTGGCCATAATTTTCCTCCTGCAACATGGAAGTAATTTACCCTGCTCATCGAATGCAAGGTACTATCAAGGTTAGGTGGAACAAATGCAATTGGCTCTTCAGATGGGATTGATAGCAGTCACTAAATGTTTGAGAGAAGCAGTTAAGGTTGTATTTCAGATTCTAATTGGAAATCAGCCCTCTTGGTTAGAATCTTACCTGTTTCACCCGGACTTCTTATCCATTTTATTTTGTATTTTGTATTTGTAATCTCATTAAAGGTGAGAGGATGGAGAAGGCAGTATCATTAGCTGCTTCTCTTAAATCCCCCACAGCAGTTCAGCTAGAACAGCTGAACCTCAGGACTACTGACATTTCGAACTGGATATTTCTTTATGGTGGGGACTATCTGTGCATTATAGGATGGTTAGCAGCATCCCTGGCCTCCACCCACAGATGCCAGTAGCATCCCTCCCTCCCTAGTTGTGACAACCAAAAATGTTCCCAGGCATTGTCAAATGTCCCCCTGGGAGGCAAAATTGTCCACGCTGAGAACCACAGAGCTACAAGTTGCATCATTAAACATAGACTCTGAAGAGCTATTAGGCAGCGTAATATGGAAAAAGGCTGGCTTATGGCAATACACATGAAAGAGGCAAACAGACTTTCCAATACTTAGGTTGTAAGCTAAAAGAAGGACAAGATTTTAACAATTACAATGAGGTTTTATGTTTTTTAATGAGGAAGAAGTGTGAGTTCCCAGAGATGACATCTCAAATCACAGGGAGAGAGATGATCATTGAACAGTGCAGAGGGAGTGTGTGGTTTGGGAAGGGGGACCTAAACCAGACTTCTAGGCAACATCAATATGTGACAAGAAAGCCTCTATAGGAATGACCAGAGGGGTTTGGAAAAAACTCAGAACAGGCAGAACTTTGAAAGCCAAAAAGTTTTTAGTAGACATAAGGGCTCAAATGTGCTCAGGAAAGAAGTTGAGGGCAAGACTGAATTAAGATACAGATCTAGCTCTGTAGATCTTCAAAGCCTCTGTGAACTTTGCACACAGTAAAATTCACAAGGGCTTCCTACGTAGAGTTTAACTTACTTAACATCCTTCTGTGGAGCTCCAAATTTATTCTTCTTGCACAGGACCTGACCATGGTAGAGTCCCATCAAGGCCTTTGATTCTTTGGTCATTACAAGCTCTCCAAATTTCTGAAAAGTAAAGGGGAATGAGAAAAGGTAGAACTTCACAGTCTAGGTTATATGGATTCCTTCAGTTCAGGTTCCTCTGAAGAGCAGAGGTAATGCATGTGAAGCCTGAGTCCCTGGGGATGCGGGGGAGTTTGGGGGTTCAGTGCTGCAGAAGTCTGTCTCTCACTGATGTGTCTTGTCTTTACTTGTCTTATCTGGAGCACTTTCCAACTACTGTGTTGAAGAAAGTTTTGGATATAACTAAGCTCTCAGATTCTTTACACCAGAGGTGTGGTAACCTTTTTCATAAAACTAGAGTCTCAGGGCCAAAATGAGCCTCCACAATCATCTCAAACCAACCCTCTCATTTTACAGATTGGGAAGAGGAGGTCCAAAGAAATGGAGTGACTTTGCTCAAGGCTATACTGCCTCAAAGTGGCAGAAATGGAACTTGAACCAAGACAGTATGACTCTGAACTCCAGTTCTTTTTTTTTGAGATGGAGTCTCGCACTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGCGCTACAGGTGCCCACCACCACGCCTGGCTAATTTTTTGTATCTGTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCGCCTTGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTCGCCTCGAACTCCGGTTCTTTTTCCACTGTAGCAGGCTGCCCACGTGGGACTTACCACTTTTAAAAGTAGCTTAATTTATGGAGAAAAAGTCTCAACTTGGTGGTTAAAGGCATAATATCTAGGATTTGACAGATCCTGTCTCTGCCACTGCCCCATTGTGAAGCTTTCTTCATCCTTAAAAATGGGAAAAACAATACCCATTTTACAGTATTGTTCTGGGGGATTAAATGAGAACACTAGTAAAATGACCAGGGTCTCAAGGTTAGCTATTATTAATATCACTAGGATATAATGGTAAGATTGCATGGTTACAAAGAGCATTTCAAAAGAATCCCTCTAATAAAGTTGCTTTCATGACCCAAAAGAACATAAAATGACAACACAATCAATGCTTTACTAATCTTGATACAGGATGTTTTATCTAATAAACCAGTGATTTTCAAACATGGGCAAAAGATTCATCAATGGTCAGAAATTTAGTGGGTGCCAATAAGCATTACATATATAAAAAGCGGAATACACAGAAAATACTGAGCACAATGCACACAGGACAGTTACTGATTCGTGAAACTTATTCCTCAATTTTTCTGTACGTATGTTTATGTGCACTTGGTTATATTTTTAAAAAATCAGAAATGCCCAATGAGACATCTAGTACCAGAAGTGTTTTTCTGGTACTTGTCCTGAGCTCTTCAGATTTTTTTTTTTGTCCTTTTACAGGTTGAGCATCCCTAATCTGAAAATCCAAAATCCAAAATGCTCCAAAATCCAACTTTTTGAGTGCCAACATGATGTCATGGGCAAGATATTACACATGTTATGAGCTGCAGTCAAAACTGTTTTATGTGAAAAATTATTAAAAATAATGTATGATATTACCATCAGGCTATGTGTATAAGGTGTATATGAAATTAATTTCATGTTTAGACTCTGATCCCATTCCCAAGATCTCTCATCATATATATGCAAATATTCCACTATCTGACAAAGTCTGAAATCTGAAATGTTTCTAGTCCCAAACATTTTGGATAAGAGATATTCAACTTTATAAAAGAGCAACCATTCTTCGATGATCGTTTAAAACTTAAAAACAAACACAAATCACTTAAATCTGCAACATCACCAAGTTGCTAGAAAAGTACACAGGTAAAGCTGGTACATACATCTCTTCTGTCTTCGTCTTTTAGTGGGTACAAGATACTTCCTTTCCTTTTCCAATTTACCAAAAAATTCAATTTCATCATCTC
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GCTCTTCACTTATTAGAACTGATGGAATGCGTTATTCATATGAAAGATTAATTTGTAAAGAGACAATAGATAAGGAATTCCAGTTATCATCCAAGGCAAGGGGGAAGGGGCCTAGAGAAATAATAGTGGAAGAATTACTGATAACTGGGAAAGCAGGAAGGGGGACACCCTATCTACAATGTTCATTATTCAATTTTCAGTTTAACATATTTTGCCTTGGGTATCTTATAGCTTATTCTTCATTTCTAAGATGATGCTAACTTTTTCTTCAATGTCTTTCCCAAGTTAGGTCAACTCCTATATTTATCCTGTTTTTCTGCCCATTTAGTTCTGAGTTTTTGAATTTTTGATTCAAGGCAGTTTTTTTTCTGATTTGCAAATGCTGATTTAAGAATATTTAAATCAAGTTCTGTTATAGTCTTCTTCTGCATTGTGGTTGTTTTTTGGGGGACAGAATTTTCATAAACTTCAGTATTCTGATTCTCATTTTCTCTTTTTTTCTTATATTAGCTTTTTGTGGGTGCTGTCTTTCTTTTTTGCATACTGACTACACAATACCACCTTTTCCAAGGGGTATTTTATTGTTACATGGAGATGTATACTACCTCCATACGACAATAAATGCTCAGGCAGGAGGAGTCTGGAGTTAATAAATTAAGACACTAGGTTTTTTAATTTAAGAGTACCCTCTTCTGTTGCAAAGTGCAGTTTCTTTAATTGACAGCATTCTTTGTGTACATGGAGGGATACGGTGGGGAGGGGTAGAAGTTGGTGTATCTAGGTTTTGTAATTTTGCAGGATGCTTCTCTGCCTTCTATTTATGCCGTGCACAGGGAATGGGTGGCTTTGTTTTCCTTATTAATCTGTTGATTTTTGTAGAATGTGTAAAGAGATACAGGTTTAAGTGGCCATAATTTTCCTCCTGCAACATGGAAGTAATTTACCCTGCTCATCGAATGCAAGGTACTATCAAGGTTAGGTGGAACAAATGCAATTGGCTCTTCAGATGGGATTGATAGCAGTCACTAAATGTTTGAGAGAAGCAGTTAAGGTTGTATTTCAGATTCTAATTGGAAATCAGCCCTCTTGGTTAGAATCTTACCTGTTTCACCCGGACTTCTTATCCATTTTATTTTGTATTTTGTATTTGTAATCTCATTAAAGGTGAGAGGATGGAGAAGGCAGTATCATTAGCTGCTTCTCTTAAATCCCCCACAGCAGTTCAGCTAGAACAGCTGAACCTCAGGACTACTGACATTTCGAACTGGATATTTCTTTATGGTGGGGACTATCTGTGCATTATAGGATGGTTAGCAGCATCCCTGGCCTCCACCCACAGATGCCAGTAGCATCCCTCCCTCCCTAGTTGTGACAACCAAAAATGTTCCCAGGCATTGTCAAATGTCCCCCTGGGAGGCAAAATTGTCCACGCTGAGAACCACAGAGCTACAAGTTGCATCATTAAACATAGACTCTGAAGAGCTATTAGGCAGCGTAATATGGAAAAAGGCTGGCTTATGGCAATACACATGAAAGAGGCAAACAGACTTTCCAATACTTAGGTTGTAAGCTAAAAGAAGGACAAGATTTTAACAATTACAATGAGGTTTTATGTTTTTTAATGAGGAAGAAGTGTGAGTTCCCAGAGATGACATCTCAAATCACAGGGAGAGAGATGATCATTGAACAGTGCAGAGGGAGTGTGTGGTTTGGGAAGGGGGACCTAAACCAGACTTCTAGGCAACATCAATATGTGACAAGAAAGCCTCTATAGGAATGACCAGAGGGGTTTGGAAAAAACTCAGAACAGGCAGAACTTTGAAAGCCAAAAAGTTTTTAGTAGACATAAGGGCTCAAATGTGCTCAGGAAAGAAGTTGAGGGCAAGACTGAATTAAGATACAGATCTAGCTCTGTAGATCTTCAAAGCCTCTGTGAACTTTGCACACAGTAAAATTCACAAGGGCTTCCTACGTAGAGTTTAACTTACTTAACATCCTTCTGTGGAGCTCCAAATTTATTCTTCTTGCACAGGACCTGACCATGGTAGGGTCCCATCAAGGCCTTTGATTCTTTGGTCATTACAAGCTCTCCAAATTTCTGAAAAGTAAAGGGGAATGAGAAAAGGTAGAACTTCACAGTCTAGGTTATATGGATTCCTTCAGTTCAGGTTCCTCTGAAGAGCAGAGGTAATGCATGTGAAGCCTGAGTCCCTGGGGATGCGGGGGAGTTTGGGGGTTCAGTGCTGCAGAAGTCTGTCTCTCACTGATGTGTCTTGTCTTTACTTGTCTTATCTGGAGCACTTTCCAACTACTGTGTTGAAGAAAGTTTTGGATATAACTAAGCTCTCAGATTCTTTACACCAGAGGTGTGGTAACCTTTTTCATAAAACTAGAGTCTCAGGGCCAAAATGAGCCTCCACAATCATCTCAAACCAACCCTCTCATTTTACAGATTGGGAAGAGGAGGTCCAAAGAAATGGAGTGACTTTGCTCAAGGCTATACTGCCTCAAAGTGGCAGAAATGGAACTTGAACCAAGACAGTATGACTCTGAACTCCAGTTCTTTTTTTTTGAGATGGAGTCTCGCACTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGCGCTACAGGTGCCCACCACCACGCCTGGCTAATTTTTTGTATCTGTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCGCCTTGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTCGCCTCGAACTCCGGTTCTTTTTCCACTGTAGCAGGCTGCCCACGTGGGACTTACCACTTTTAAAAGTAGCTTAATTTATGGAGAAAAAGTCTCAACTTGGTGGTTAAAGGCATAATATCTAGGATTTGACAGATCCTGTCTCTGCCACTGCCCCATTGTGAAGCTTTCTTCATCCTTAAAAATGGGAAAAACAATACCCATTTTACAGTATTGTTCTGGGGGATTAAATGAGAACACTAGTAAAATGACCAGGGTCTCAAGGTTAGCTATTATTAATATCACTAGGATATAATGGTAAGATTGCATGGTTACAAAGAGCATTTCAAAAGAATCCCTCTAATAAAGTTGCTTTCATGACCCAAAAGAACATAAAATGACAACACAATCAATGCTTTACTAATCTTGATACAGGATGTTTTATCTAATAAACCAGTGATTTTCAAACATGGGCAAAAGATTCATCAATGGTCAGAAATTTAGTGGGTGCCAATAAGCATTACATATATAAAAAGCGGAATACACAGAAAATACTGAGCACAATGCACACAGGACAGTTACTGATTCGTGAAACTTATTCCTCAATTTTTCTGTACGTATGTTTATGTGCACTTGGTTATATTTTTAAAAAATCAGAAATGCCCAATGAGACATCTAGTACCAGAAGTGTTTTTCTGGTACTTGTCCTGAGCTCTTCAGATTTTTTTTTTTGTCCTTTTACAGGTTGAGCATCCCTAATCTGAAAATCCAAAATCCAAAATGCTCCAAAATCCAACTTTTTGAGTGCCAACATGATGTCATGGGCAAGATATTACACATGTTATGAGCTGCAGTCAAAACTGTTTTATGTGAAAAATTATTAAAAATAATGTATGATATTACCATCAGGCTATGTGTATAAGGTGTATATGAAATTAATTTCATGTTTAGACTCTGATCCCATTCCCAAGATCTCTCATCATATATATGCAAATATTCCACTATCTGACAAAGTCTGAAATCTGAAATGTTTCTAGTCCCAAACATTTTGGATAAGAGATATTCAACTTTATAAAAGAGCAACCATTCTTCGATGATCGTTTAAAACTTAAAAACAAACACAAATCACTTAAATCTGCAACATCACCAAGTTGCTAGAAAAGTACACAGGTAAAGCTGGTACATACATCTCTTCTGTCTTCGTCTTTTAGTGGGTACAAGATACTTCCTTTCCTTTTCCAATTTACCAAAAAATTCAATTTCATCATCTC
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Task1_train_3182
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This is a variant in HADHA (hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha), located on Chromosome 2. Is this mutation a likely cause of disease or not?
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Pathogenic; not specified
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CTAGGCTTTGGATATTTTTTTCCTTTTTCAGCTTTATACAGAGGATTGGATCTTTAGTTTTCCTTTAACTGATAATAAAACATTGAAAGGAAATAAGTTTACCTGAGATTCACAGAGATAACCGGCATCACTCCCTTGCTCAATTCCAGTCTTTACCACCTAAAAAACATATAAAGCACTTGCTCAGCGTTGGAATAGATTGGCGAGATGTACAATAATGCTGAATAAAATTGCCAGTGTTGTTAGTCCTCAAAGAGTAAGTCAAAAGTCTAGACTGGAATGAGAAAGAGAAGAGGACTGAGGATCTGGCTGCTCTCGACTGACTTAATTCTCCATCTTTGAGGCTACTGCTAAATCTAGCATAACATGGCCATGAGAAGGAAAGACAAAGCTTGAATTACTCTTCCGGCTTCTCTCCTGATCTTCAAATGTAGGCAGATCCTCAACTTCCACTTTCAGCCCTTTTCACTCTCTACACTTTCTCCCTCAGATGCATGACCTAGTTTATCACATTAATGAACTCTACAAAATTCAATGTAACATTTGGGGTAAGTACTATCCTAAGTACAATGGCAAATATAAAAGATGAAAAAAATAACCCTGTACTTACTCACTATCATAATTTATGAGAATGACAAATTTTTAGAAATAAGCAAATTGACATCTCTAACTCTGACTTCTCTGTCTAAACTACTGTTGCTTGAATTTCCCAAAATATCTGAACTCAATATATCTGAACCTAACTCATAACCTCTCTTTGGCAAGCCTGTTGCTGCTTTCCTATTTTTACTATTCTATCTCAGGGCCTTATTCAAAGCTCAAGCCTGGATTATCAGGACAGTTTTGCTAATTCACTGCTCTACTTTGTCTCTCCTTCGAAACCATTTTTACCCACTACCATGAAAATGGCTCTCTAGAATCTTTATCGGACAAAGGTAAAATTTCTCAATTCATTATTACCAACCTTCTAAAATCCAGCTTCAATCTGCCTTTCTTCAGACTAACATCTCATTATCCCCCACAAATACTGGTCTCACTAATGTTCCTTGAAGAGCTTGTTTTCCAGCTTCCATAACTTTGCTCTAAATGCCCACCCTCCTTGGCAATACTTTCCCTCCTTCACCTATCCTCCACCCAGCTTTCAGGGTTGGGGTCAGATCCCATGAGGCACTTACTGATCTCTTTGTCTCATGGTAATTGTTGCCTCCTCTGTCCCACTCATCTGGCATTAATCTTATGCTGCCTTATATCTCTTAAAGGCTATCCACCTTAACACATATATATATCTAACTTCCCCAGTCCAGCCTGTGAGACGAAGGCAGGTGGGGGCATGTTTCATATTTTATGTGCTTTGGTGCCTTCTACTCAAGATATACTTGCTGACTGACCCATTCACCAATTCTGAAGTCTTTGGTTATATACTCTCTTAATCTTGGACTTTCCACACTGAAAAGTTCTAAGTTTTAAAGTCTACTGTTGGAGATTTCTTGAATCCTGTGATCATTTTAATTATTCTCATTGATCTTTTGCAGAGCTTCTCTACATCATTACATCTTTTTTATAATTACAGCAATGAAGAAGTCCTTGAGGGATTTTAGGTACTGACAATGATGTTGACCAAGAATAGAACAGAGCCATCAATTTTGTTTCAACTACTTTTTGGTTAGTGCCTGACACTCTAATGGCTTTGTGATACTGATATGACTTAGGTTCCTTTCCTGGTTTTCTGGTTTGTTACTGATACATTTAACTGCATCAATCAATGAGTAAGTCCAGCACTGATTTTCCCCAAATATATCACTTTATATGAGTCCTTACAGCTTGCTATGCCCTTCCCTTATTTTTGGTAAATACTTTAATAGCAGAATTAAGAAATTTAGTACTCAACATACATGGTCCAGAATGGCAATAAGGAGGAGTGATCTATATAAAGGAAGGAAATATGAGAAAAGTGGGAATATTGGGTAAGACTCACATCAATTATTTTCAGAGGTGCAGGATAAAGGCCTTTAGTCTGCTTTCGCACTTTTTCTTCCACTTTTTTGTAAACCTGTTGCCTGACAAATGGAATAGTCATGGCATACGCTGTCAATTCTGTAAAATAAAATGCTTTTAGATATTTACTATAAAGAGCCTAGATTCCCTTGTTAGTTTATGCTCTAAACTCTATAAAAATGAAGTAATTCTAGCTATCTGCAAGAACTGCTCTTTATTCTGATACACACAATATAAATTTCAACCTAAGCACTACCTTAAACATGCTAAGTGATGAATGTTAAAGCTGGGCCTTGGGTACATGAGTGTTTATAACACTGTTATCTAGTCTTTTTGTGTTCATGCTTAACATTTTCTAAAATGAAAAGTTTTCTATGACTCAAGGGTCATCATAAGGAAAAAAAAGGTTTTAAAAATTGGCTTTAACTGGATAGTGTAAAGTTGAGGAGTTGTTACATCTCCTACCTAAGGCTGACTTTATGCTTTGAGTAAATAATGCATTTACCACTTCCTCATTTTGAATCTACAGCAAATAAAATTAAATTCTCAGGAAAGAAGCTTTGCCTTTGTTCTTTAACAATGATACTCACTTTCCACCAATCCCTTGTCTCTCTTTGGAGAGATCTTCTTATCAGCTAGTCCTTTGGCAAAAGTAATTGCAACTTCTTCTAGGTATTCTATTGTCCGTTCCTCTGGAGGTTTTAGTCCTGGTCCTATAAAAATGAATGCAACACTGGAATGCAAATCAGGCTTAGACCAGTCCCAGGTAGTGAAAAACCCAGACTTGCCAAAGCCAAAGGCCCTAGCACAGCGTTCCATTTCAGACTGGAGACTGGTAGGTGGCAAAGTCATAAACCAAGAAGTCAAAGAAGGGAAATCACAATGAATAGAGGAGAAACAATATGCTCTAGGTAGAAAACGCGGTCTTTAACTGTTTCATTTGGTTTCCACTTCTGAGTAGAATGTAGTATGTAACACACACAAAAGGAATGCATTATGTCTACTGCAACCTGCATTCTTGCTGCAAAACTGGAAAGAAAAAAGAAGAAATCATGAAATCATTTGTAAAGACACTGGGGAGCTATGGAAGTAACAAGGACAACATGAACTAAAATTCTAGAGAGCAAGAGCCTATCTTAGCTGAACTGATGATTGCTGATCATTTTCTTTTCAGGGATGTGTAATGCTTTTGGGCATGGACTGAAGACTGGACTTGACTCAAGCAGAAGGAAAGTGAAACCATCAGAGTTTTTGGTGGTCATGTACAACAGATTAGAAGCTAGAAGAAACCAAGTGCAAAGCCAGTTTTCCCCAAGGAACATTTGTGAAAGTCTAAGATGGTACACAAGGAGGAAGGGGCTAGCTCAGAGAGGTTGAGTGAAATCTCTCATAGTATCATGATGTTTAATAGATAAGGTACTTCTATGGAGAAGGGGGCCTGAAACCAATATGCAACTGATTTTCCACGCAAGGCCTCTGCCAGATCTTGAACCTGCTTGGGGCAAGAGGTTACAGAGCTAGGCTCAAAAAATCTGAAGAACAAGTACAGTGGTTCATGCCTATAATCCCAGCACTTTGGAAGACTGACACAGGAGGATTGCTCAAGACCAGCCTGGGCAACATAGTGAGACCCCACCTCTATTTAAAAGGAATCCAAAGAACACAATTTATAGTGCTGTGAAAACAGACACCTACCAGGCTCTCAATCAAAAGTCTGTAAGAGCCACATTGGAGGAGGTGGCTGGGGTCAAAATGGCAATCTTGTGCAGTACTGTGGTACTTAGGAAACAAAATCCCAACTGAGGGAACCCATAGCAGACATACAACCAATCTCTCCCTTAAGACATTTGACCTATTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTAACCTAGGCTGGAGTGCAGCAGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCCAGTTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTACCTGGGATTACAGGTGCATGCCACTGTGCCCAGCTAAATTTTCTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGCTGGTCTTGAATTCCTGACCTCAAATGATCT
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CTAGGCTTTGGATATTTTTTTCCTTTTTCAGCTTTATACAGAGGATTGGATCTTTAGTTTTCCTTTAACTGATAATAAAACATTGAAAGGAAATAAGTTTACCTGAGATTCACAGAGATAACCGGCATCACTCCCTTGCTCAATTCCAGTCTTTACCACCTAAAAAACATATAAAGCACTTGCTCAGCGTTGGAATAGATTGGCGAGATGTACAATAATGCTGAATAAAATTGCCAGTGTTGTTAGTCCTCAAAGAGTAAGTCAAAAGTCTAGACTGGAATGAGAAAGAGAAGAGGACTGAGGATCTGGCTGCTCTCGACTGACTTAATTCTCCATCTTTGAGGCTACTGCTAAATCTAGCATAACATGGCCATGAGAAGGAAAGACAAAGCTTGAATTACTCTTCCGGCTTCTCTCCTGATCTTCAAATGTAGGCAGATCCTCAACTTCCACTTTCAGCCCTTTTCACTCTCTACACTTTCTCCCTCAGATGCATGACCTAGTTTATCACATTAATGAACTCTACAAAATTCAATGTAACATTTGGGGTAAGTACTATCCTAAGTACAATGGCAAATATAAAAGATGAAAAAAATAACCCTGTACTTACTCACTATCATAATTTATGAGAATGACAAATTTTTAGAAATAAGCAAATTGACATCTCTAACTCTGACTTCTCTGTCTAAACTACTGTTGCTTGAATTTCCCAAAATATCTGAACTCAATATATCTGAACCTAACTCATAACCTCTCTTTGGCAAGCCTGTTGCTGCTTTCCTATTTTTACTATTCTATCTCAGGGCCTTATTCAAAGCTCAAGCCTGGATTATCAGGACAGTTTTGCTAATTCACTGCTCTACTTTGTCTCTCCTTCGAAACCATTTTTACCCACTACCATGAAAATGGCTCTCTAGAATCTTTATCGGACAAAGGTAAAATTTCTCAATTCATTATTACCAACCTTCTAAAATCCAGCTTCAATCTGCCTTTCTTCAGACTAACATCTCATTATCCCCCACAAATACTGGTCTCACTAATGTTCCTTGAAGAGCTTGTTTTCCAGCTTCCATAACTTTGCTCTAAATGCCCACCCTCCTTGGCAATACTTTCCCTCCTTCACCTATCCTCCACCCAGCTTTCAGGGTTGGGGTCAGATCCCATGAGGCACTTACTGATCTCTTTGTCTCATGGTAATTGTTGCCTCCTCTGTCCCACTCATCTGGCATTAATCTTATGCTGCCTTATATCTCTTAAAGGCTATCCACCTTAACACATATATATATCTAACTTCCCCAGTCCAGCCTGTGAGACGAAGGCAGGTGGGGGCATGTTTCATATTTTATGTGCTTTGGTGCCTTCTACTCAAGATATACTTGCTGACTGACCCATTCACCAATTCTGAAGTCTTTGGTTATATACTCTCTTAATCTTGGACTTTCCACACTGAAAAGTTCTAAGTTTTAAAGTCTACTGTTGGAGATTTCTTGAATCCTGTGATCATTTTAATTATTCTCATTGATCTTTTGCAGAGCTTCTCTACATCATTACATCTTTTTTATAATTACAGCAATGAAGAAGTCCTTGAGGGATTTTAGGTACTGACAATGATGTTGACCAAGAATAGAACAGAGCCATCAATTTTGTTTCAACTACTTTTTGGTTAGTGCCTGACACTCTAATGGCTTTGTGATACTGATATGACTTAGGTTCCTTTCCTGGTTTTCTGGTTTGTTACTGATACATTTAACTGCATCAATCAATGAGTAAGTCCAGCACTGATTTTCCCCAAATATATCACTTTATATGAGTCCTTACAGCTTGCTATGCCCTTCCCTTATTTTTGGTAAATACTTTAATAGCAGAATTAAGAAATTTAGTACTCAACATACATGGTCCAGAATGGCAATAAGGAGGAGTGATCTATATAAAGGAAGGAAATATGAGAAAAGTGGGAATATTGGGTAAGACTCACATCAATTATTTTCAGAGGTGCAGGATAAAGGCCTTTAGTCTGCTTTCGCACTTTTTCTTCCACTTTTTTGTAATCCTGTTGCCTGACAAATGGAATAGTCATGGCATACGCTGTCAATTCTGTAAAATAAAATGCTTTTAGATATTTACTATAAAGAGCCTAGATTCCCTTGTTAGTTTATGCTCTAAACTCTATAAAAATGAAGTAATTCTAGCTATCTGCAAGAACTGCTCTTTATTCTGATACACACAATATAAATTTCAACCTAAGCACTACCTTAAACATGCTAAGTGATGAATGTTAAAGCTGGGCCTTGGGTACATGAGTGTTTATAACACTGTTATCTAGTCTTTTTGTGTTCATGCTTAACATTTTCTAAAATGAAAAGTTTTCTATGACTCAAGGGTCATCATAAGGAAAAAAAAGGTTTTAAAAATTGGCTTTAACTGGATAGTGTAAAGTTGAGGAGTTGTTACATCTCCTACCTAAGGCTGACTTTATGCTTTGAGTAAATAATGCATTTACCACTTCCTCATTTTGAATCTACAGCAAATAAAATTAAATTCTCAGGAAAGAAGCTTTGCCTTTGTTCTTTAACAATGATACTCACTTTCCACCAATCCCTTGTCTCTCTTTGGAGAGATCTTCTTATCAGCTAGTCCTTTGGCAAAAGTAATTGCAACTTCTTCTAGGTATTCTATTGTCCGTTCCTCTGGAGGTTTTAGTCCTGGTCCTATAAAAATGAATGCAACACTGGAATGCAAATCAGGCTTAGACCAGTCCCAGGTAGTGAAAAACCCAGACTTGCCAAAGCCAAAGGCCCTAGCACAGCGTTCCATTTCAGACTGGAGACTGGTAGGTGGCAAAGTCATAAACCAAGAAGTCAAAGAAGGGAAATCACAATGAATAGAGGAGAAACAATATGCTCTAGGTAGAAAACGCGGTCTTTAACTGTTTCATTTGGTTTCCACTTCTGAGTAGAATGTAGTATGTAACACACACAAAAGGAATGCATTATGTCTACTGCAACCTGCATTCTTGCTGCAAAACTGGAAAGAAAAAAGAAGAAATCATGAAATCATTTGTAAAGACACTGGGGAGCTATGGAAGTAACAAGGACAACATGAACTAAAATTCTAGAGAGCAAGAGCCTATCTTAGCTGAACTGATGATTGCTGATCATTTTCTTTTCAGGGATGTGTAATGCTTTTGGGCATGGACTGAAGACTGGACTTGACTCAAGCAGAAGGAAAGTGAAACCATCAGAGTTTTTGGTGGTCATGTACAACAGATTAGAAGCTAGAAGAAACCAAGTGCAAAGCCAGTTTTCCCCAAGGAACATTTGTGAAAGTCTAAGATGGTACACAAGGAGGAAGGGGCTAGCTCAGAGAGGTTGAGTGAAATCTCTCATAGTATCATGATGTTTAATAGATAAGGTACTTCTATGGAGAAGGGGGCCTGAAACCAATATGCAACTGATTTTCCACGCAAGGCCTCTGCCAGATCTTGAACCTGCTTGGGGCAAGAGGTTACAGAGCTAGGCTCAAAAAATCTGAAGAACAAGTACAGTGGTTCATGCCTATAATCCCAGCACTTTGGAAGACTGACACAGGAGGATTGCTCAAGACCAGCCTGGGCAACATAGTGAGACCCCACCTCTATTTAAAAGGAATCCAAAGAACACAATTTATAGTGCTGTGAAAACAGACACCTACCAGGCTCTCAATCAAAAGTCTGTAAGAGCCACATTGGAGGAGGTGGCTGGGGTCAAAATGGCAATCTTGTGCAGTACTGTGGTACTTAGGAAACAAAATCCCAACTGAGGGAACCCATAGCAGACATACAACCAATCTCTCCCTTAAGACATTTGACCTATTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTAACCTAGGCTGGAGTGCAGCAGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCCAGTTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTACCTGGGATTACAGGTGCATGCCACTGTGCCCAGCTAAATTTTCTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGCTGGTCTTGAATTCCTGACCTCAAATGATCT
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Task1_train_3183
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This gene mutation involves HADHB (hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta) on Chromosome 2. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Mitochondrial trifunctional protein deficiency
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CATACCATTACTTGTAACATACTTTTTGGTTTATACATTCTGTGATATGGAGAGGGAGGCAGCTAGACAAGGATGTGAATACCAAGAGGTAGAGATTATTGGGGGGCAACTTGGAGGCTGGCTACCAAAGTCTTTGTTGGTAAATCTTGTGGGATTTTTTTGGTTTTGATTTTTTGTTGTTGTTGTTAAAACATGCTTCAAAATTAAGAAATTATAAAAGGTGTGTGATGACAAGTCTTCCACCCCTGACCCCTAGTTACCCAGTTCCCTTTCTTCCAGCCAACAATTATTTTTAACATCTTTATTATACTTCCAGGGGGATTTTATACTGATACAAGGAAATGTACATAATATTTTTCCTCTTTTAACATGAATGATAGCATGCTGTACAGCTATTTTGCACCTTGCTTTCTTCACTTAATGATACAGCTTAAAATGGTTCCGAATTGGTGCATAATCATTTCCTTACCTTTTACAGCTGCATAGTATTTCACAGGGGTGTTGTAGCATGGTTTACTTACCCATTTTCCTATTTTTTGGTTATTCTAATTTTTGACTATTACAGTAACAATATGGATTATGTCCTGTGTGTGAGTAATATCCATGAAGTCAGTTCATGGAAGTGGAATTGCTGGTTCAAACATTAGTTTCAGTTATAGTTTTCATGGATAATTACCAAATTGCCCTCCCCATGGACTGTGCCAGTTCTCTTGGCAGCAGTATATGAGAATATCTATTTGCACATACTCTTACCTACACAGAGTATATATCAAACCTTTGAATCTTTGCTACTTTGAGAGACAATTATATCTGTGGTTTTAATTTGAATTCTTCTTATGAGTGAAATTGAACATCTTTTCATATACTTAAGAACCATTTGTATTTCCTTTTCTGTGGTCTGTTCATATTCTGTGCCTATTTGTCTGCTAGTGTTTTCCTTAGTAATCTGTAGGAACTCATTGTTAGAAATTTAGTCTTTTTTGGAGGGGTGGGGGAAAGTTGTTAATATATTTTACATATTTTTTAACATATAGGGTTATTATATGTTTTACTTTTTTATTGTTTTGAAACAATACAGTATCAAACTTTGAAAAAGTTGCAAGTGCAGTACTACAAACTTTTTTTAGTAGCAGTTGAGATTAAGTTGCTGACATGATGCTTCACCATCCCTATTTAGTGTATATTCCCTTCAGATACAAACATTCCACAAAGCCTTCTACATAATCATAGTACAGCCTTCAGAATCGTGAAACTAATACTAATGGTTTTATTATCACGCCTAGCAGTCTCTCTGCTTCTTTGACCCTAAAGGAGAGGAGCACACACTCTAGAGGTAGACTTCCTAGGTTCAAATTCCAGCTCTGGGCCTGGTGCGGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGATGGATCACCTGAGGTCAGGAGTTCGACACCAGCCTGGCCAACATGGCAAAACCCCATGTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCACGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGACTGAACCTGGGAGGCAAAGATTGCAGTGAACCGAGATTGCACCACTGTACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAAAATTCCAGCTCTGCCACTCACTAGTTGTAGGTCTTTTGGCAAGTCACTCAATCCTACTATGCCTCAATTTCCTTATCTCTTACAAAGGATGTAATAATCATGCCTCCTTTGTAGGTCATTGTGAAGATTAGATGGTTAATGCTTAGAATAGTGGTTGCTGCAATGTGAAAACCATGTTGGTGTTCCTATCATAATAATATTATTAGATGAAGAATAGTTGATAAGATTAAGTTTTAATGTTTTCTAGTAGCCATGGATGAGGTTATCAGAGTTCATAGACTACAATGTAAACTACAAATTGTTCAGCTAATCCAGGATATACTTTTGTTCTTCTCTTTTTAGATTCCAGAATGACTATCTTGACTTACCCCTTTAAAAATCTTCCCACTGCATCAAAATGGGCCCTCAGATTTTGTAAGTTTATTATTATTTTTTTATTTTTAGAGATTGGATTTGGATTTATAAACATCTCGCACAGATACTGAATGGTATTGCTTTTTGTAAACAGTTTATTTTGTCTTCCAGCCATAAGACCTCTGAGCTGTTCCTCCCAGCTACGAGCTGCCCCAGGTACAGTAATTTGTAAAATAAATATTTCTGATTTAAATGTTAGATTCCAGATTCTATAGTTTGTGAACTCTGAATAAAAACCAAAACTAATTTGCTAATTCTCCCCTTTTTATGAGCACATGAACATCTCTGTTGCCTTCAAATTAAAAAATTATAGGTCCAATCAATAATGATACTACATTATTTAGGATTAGGCTTGAGGATGTTAATGGGAGGCTGTTTTCTGGGATTTGAACCTGCTGGAGTCATGGAGGTTCCATAAACCTCGTTGGTCAGTTTATTTATCCTCTTGCTGTCCGTCCTGGAGGTGAATGGCATACAAATGCTCTTGAGACCTGCTATGGAACCAAAAGTTAACTTTAAATTTGCAATTTGTGAAATGCTTCTCTATTGATGAATATCTTCTTCTCCCATGTGCAAGAGGGCCCATTCCTGAAATAGAAGTGATTAGGAACTAGTTAATAACAGAAAGTTGTTTAGTTAATATGAAATGAAAGAGTAAGGAAATGTGTTGATTTTATATGGTCATTTACACCCTTAGTAAACCCAATGAATTAGGCTTCTTTACTGCAGATTTTTGTAGAATCTGCTGTAGGTTTTTATCTTCACTGGCTAGTGCTAAAAACACCCTGACAAATTCTTAACATTTTTCTCCTTGCCTAGATTCTGTATTGACCCATGCCTTTGATTTTGGTTTTATTATGGTATTTCTACCTGTATAATAATAGAAAAAATACCTTCCAGGCTGGGTGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATGGCCTGAGGTCAGGAGTTTGAGACCAGCTTGGTCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATACGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGACACGAGAATCTTTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGGTCACACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGGCTCAAAAAAAAAAAAAAAAGAAAGAAAGAAAAAATCCTGGGATTTGGTTCCCAGGATTCAGAAGACCTGTACTCTCTTCCAGCTCTACCTCTTTCTGGGCAGTGTGGCCTTGAACTGGTCACTTTACTTCCCTGTGCTTGGTTTCTTCATCTAAAAAAGGAATATATAATAAGTCTAGTCTTGTCAGCCTCATATAGTTATGAGATATCTCAAAGCACTTTAAAAACTATAAATTCACTGTAAGTGCAAGATGGTATTTTTCTATTATTGCCTAATCCCAACTAGAGAAGTTTCATATTGTCATATAACAAATATATTTCCTGTGGCCTTTACATTCTAACTAGAATATAGGTTTGTAGTAGCCCCATAAATAATTCCTGTCTGTCTTGTTTTGCCTTTTCCCTAATTCTAATGTTGACCCAGGTCTTTGCTTTGCAAAGTCACACAAATAGACCTGATCCTTGCCAAGTGGGAGAAGGTCATTCTGAATACCAGCAGAGGAAACCAAGTATCTGGTGTTTAAACTATTCCTTATATTGCTCTGTAACTGTTTCTGATGTTTGTGTCTCCCCAACTGTATTGTAAGCCCTGTGAGTCTTTAGCTTTTTGGTATCCCCAGTGTATAACATGGTGTTCCGCAAATATAACAGTGTCCCACAAGTAACTTGCATTAACGCTGATGATGATAGTGGTACCAGAAGGCACGTGATAAAACAATGGGAAGTGGCCAGCTGATTTGAGGGAGGAAGCAGGCATGTGCCTGTGCTGAGCAGGTTTTAGGTTGCAGTAATTTTTTTTTTGTTTTAA
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CATACCATTACTTGTAACATACTTTTTGGTTTATACATTCTGTGATATGGAGAGGGAGGCAGCTAGACAAGGATGTGAATACCAAGAGGTAGAGATTATTGGGGGGCAACTTGGAGGCTGGCTACCAAAGTCTTTGTTGGTAAATCTTGTGGGATTTTTTTGGTTTTGATTTTTTGTTGTTGTTGTTAAAACATGCTTCAAAATTAAGAAATTATAAAAGGTGTGTGATGACAAGTCTTCCACCCCTGACCCCTAGTTACCCAGTTCCCTTTCTTCCAGCCAACAATTATTTTTAACATCTTTATTATACTTCCAGGGGGATTTTATACTGATACAAGGAAATGTACATAATATTTTTCCTCTTTTAACATGAATGATAGCATGCTGTACAGCTATTTTGCACCTTGCTTTCTTCACTTAATGATACAGCTTAAAATGGTTCCGAATTGGTGCATAATCATTTCCTTACCTTTTACAGCTGCATAGTATTTCACAGGGGTGTTGTAGCATGGTTTACTTACCCATTTTCCTATTTTTTGGTTATTCTAATTTTTGACTATTACAGTAACAATATGGATTATGTCCTGTGTGTGAGTAATATCCATGAAGTCAGTTCATGGAAGTGGAATTGCTGGTTCAAACATTAGTTTCAGTTATAGTTTTCATGGATAATTACCAAATTGCCCTCCCCATGGACTGTGCCAGTTCTCTTGGCAGCAGTATATGAGAATATCTATTTGCACATACTCTTACCTACACAGAGTATATATCAAACCTTTGAATCTTTGCTACTTTGAGAGACAATTATATCTGTGGTTTTAATTTGAATTCTTCTTATGAGTGAAATTGAACATCTTTTCATATACTTAAGAACCATTTGTATTTCCTTTTCTGTGGTCTGTTCATATTCTGTGCCTATTTGTCTGCTAGTGTTTTCCTTAGTAATCTGTAGGAACTCATTGTTAGAAATTTAGTCTTTTTTGGAGGGGTGGGGGAAAGTTGTTAATATATTTTACATATTTTTTAACATATAGGGTTATTATATGTTTTACTTTTTTATTGTTTTGAAACAATACAGTATCAAACTTTGAAAAAGTTGCAAGTGCAGTACTACAAACTTTTTTTAGTAGCAGTTGAGATTAAGTTGCTGACATGATGCTTCACCATCCCTATTTAGTGTATATTCCCTTCAGATACAAACATTCCACAAAGCCTTCTACATAATCATAGTACAGCCTTCAGAATCGTGAAACTAATACTAATGGTTTTATTATCACGCCTAGCAGTCTCTCTGCTTCTTTGACCCTAAAGGAGAGGAGCACACACTCTAGAGGTAGACTTCCTAGGTTCAAATTCCAGCTCTGGGCCTGGTGCGGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGATGGATCACCTGAGGTCAGGAGTTCGACACCAGCCTGGCCAACATGGCAAAACCCCATGTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCACGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGACTGAACCTGGGAGGCAAAGATTGCAGTGAACCGAGATTGCACCACTGTACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAAAATTCCAGCTCTGCCACTCACTAGTTGTAGGTCTTTTGGCAAGTCACTCAATCCTACTATGCCTCAATTTCCTTATCTCTTACAAAGGATGTAATAATCATGCCTCCTTTGTAGGTCATTGTGAAGATTAGATGGTTAATGCTTAGAATAGTGGTTGCTGCAATGTGAAAACCATGTTGGTGTTCCTATCATAATAATATTATTAGATGAAGAATAGTTGATAAGATTAAGTTTTAATGTTTTCTAGTAGCCATGGATGAGGTTATCAGAGTTCATAGACTACAATGTAAACTACAAATTGTTCAGCTAATCCAGGATATACTTTTGTTCTTCTCTTTTTAGATTCCAGAGTGACTATCTTGACTTACCCCTTTAAAAATCTTCCCACTGCATCAAAATGGGCCCTCAGATTTTGTAAGTTTATTATTATTTTTTTATTTTTAGAGATTGGATTTGGATTTATAAACATCTCGCACAGATACTGAATGGTATTGCTTTTTGTAAACAGTTTATTTTGTCTTCCAGCCATAAGACCTCTGAGCTGTTCCTCCCAGCTACGAGCTGCCCCAGGTACAGTAATTTGTAAAATAAATATTTCTGATTTAAATGTTAGATTCCAGATTCTATAGTTTGTGAACTCTGAATAAAAACCAAAACTAATTTGCTAATTCTCCCCTTTTTATGAGCACATGAACATCTCTGTTGCCTTCAAATTAAAAAATTATAGGTCCAATCAATAATGATACTACATTATTTAGGATTAGGCTTGAGGATGTTAATGGGAGGCTGTTTTCTGGGATTTGAACCTGCTGGAGTCATGGAGGTTCCATAAACCTCGTTGGTCAGTTTATTTATCCTCTTGCTGTCCGTCCTGGAGGTGAATGGCATACAAATGCTCTTGAGACCTGCTATGGAACCAAAAGTTAACTTTAAATTTGCAATTTGTGAAATGCTTCTCTATTGATGAATATCTTCTTCTCCCATGTGCAAGAGGGCCCATTCCTGAAATAGAAGTGATTAGGAACTAGTTAATAACAGAAAGTTGTTTAGTTAATATGAAATGAAAGAGTAAGGAAATGTGTTGATTTTATATGGTCATTTACACCCTTAGTAAACCCAATGAATTAGGCTTCTTTACTGCAGATTTTTGTAGAATCTGCTGTAGGTTTTTATCTTCACTGGCTAGTGCTAAAAACACCCTGACAAATTCTTAACATTTTTCTCCTTGCCTAGATTCTGTATTGACCCATGCCTTTGATTTTGGTTTTATTATGGTATTTCTACCTGTATAATAATAGAAAAAATACCTTCCAGGCTGGGTGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATGGCCTGAGGTCAGGAGTTTGAGACCAGCTTGGTCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATACGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGACACGAGAATCTTTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGGTCACACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGGCTCAAAAAAAAAAAAAAAAGAAAGAAAGAAAAAATCCTGGGATTTGGTTCCCAGGATTCAGAAGACCTGTACTCTCTTCCAGCTCTACCTCTTTCTGGGCAGTGTGGCCTTGAACTGGTCACTTTACTTCCCTGTGCTTGGTTTCTTCATCTAAAAAAGGAATATATAATAAGTCTAGTCTTGTCAGCCTCATATAGTTATGAGATATCTCAAAGCACTTTAAAAACTATAAATTCACTGTAAGTGCAAGATGGTATTTTTCTATTATTGCCTAATCCCAACTAGAGAAGTTTCATATTGTCATATAACAAATATATTTCCTGTGGCCTTTACATTCTAACTAGAATATAGGTTTGTAGTAGCCCCATAAATAATTCCTGTCTGTCTTGTTTTGCCTTTTCCCTAATTCTAATGTTGACCCAGGTCTTTGCTTTGCAAAGTCACACAAATAGACCTGATCCTTGCCAAGTGGGAGAAGGTCATTCTGAATACCAGCAGAGGAAACCAAGTATCTGGTGTTTAAACTATTCCTTATATTGCTCTGTAACTGTTTCTGATGTTTGTGTCTCCCCAACTGTATTGTAAGCCCTGTGAGTCTTTAGCTTTTTGGTATCCCCAGTGTATAACATGGTGTTCCGCAAATATAACAGTGTCCCACAAGTAACTTGCATTAACGCTGATGATGATAGTGGTACCAGAAGGCACGTGATAAAACAATGGGAAGTGGCCAGCTGATTTGAGGGAGGAAGCAGGCATGTGCCTGTGCTGAGCAGGTTTTAGGTTGCAGTAATTTTTTTTTTGTTTTAA
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Task1_train_3184
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Assess the clinical impact of this variant on gene HADHB (hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta), found on Chromosome 2. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Mitochondrial trifunctional protein deficiency 2
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TTTTTTTTTTTTAACACAGAACCTCACTCTGTCACTCAGGCTGGAGTGCAGTGGTACCATCATAGCTCACTGCAGGCTCAAACTCTTGAGCTCAAGAGATCATCCTGCCTTAGGATCCCAAGTAGCTGGGTCTACAGGTGCTCCACCACACCCAGCTAATTTTTAAATTTTTTGTGGAGACGGGATCTCGCCATGTTGCCCAGGCTGGTCTTAAACCTCTGGCCTCAAGTGATCCTTCTACCTCAGCCTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCTCATCCCAAAAAGTACTCTTAACAGAAGTAAAAGATTAGCACAGATCTCTATACTTGTGTTTTTTAAAAAGTAAGGTCAGGTTTAAAATTTGGGGGTTCTAACCGTAGTTAACCTCTTTTTTTGCTCTCCATACCTGAGGAACATTACCATTGGCGTGGTTCCTCTGTGAATAATGTGGCTGGCTGCAGCAGGGATTATCAACTGGAGGAGTGTATCTCTAGGAAGGTACTTCAGCATCTGAGGCATGAGTAAATAGTTTACAACCTGCCAGGCTTTCAACCTAGGTGCTTCAGATATGATATTTTCCCACAAAGATATGGTCTTCCTTCCTTCACCACTACCATACTTGTAAATCATTGCTTTAGATGGCACAGCTCTTTCCTTCACTTTCTCCTTACATCCTTGTCATTTTTATAAATCACTGAAAACCCCACTAACAAACTTTAGCAAAACTGTGGGATATTTTGTAGCATCAGCTCTTAGTGTGAGGAGGCAAGGAAGCCTGAAAGATTTAGTAATCATGTGCTCATCTAGTAACATCAAGGCCCAGGTGGGCACCCCACCTCATGTGTGGCGGGGAATGATGCCCGTGACTGGGGGCGTTCGCCACTCTAGGCAGCATGTGACCAACTCCTGGTTAGAGAAACAGAATACTGGCCAGTGGCCATAAGGAGAGAGGGGGCCTGCCTTACGTTTCAACAGCTGTAATTTCTCTGCTTTGCAGCAGAAGTTAACATTCTCTTTATAGGATAAAAAATCTTTATTAAAACTAAAGCTGGGAGCATATAAATATGCAAGATGTTCTGGTTTGGAATATGATTTGTTCAAGAGTTGGTCCAATGGATATTCCTAGAAGTTGACGTCCATATGGCAGGAATGAAACTTGTTTTTCTCTAACGTGTTGAATGTGTTTTTAGTCATTTAAGAAAATTACCTTAATTCTTCTGAAAAGTTGAAAACTTTAATTACAGATGTTGTACAAAGCTGATAACTGTCATTCAGCTTTTTAATCAAGAAGCTTAAATTGGAATGGTATGTTATTTTCTGTAAAAGATATTCATGAAGTATAACCTGTGCCCTGTAGGTGTTGGCTTGATTGCTTCTGGCCAGTGTGATGTGATCGTGGCAGGTGGTGTTGAGTTGATGTCCGATGTCCCTATTCGTCACTCAAGGAAAATGAGAAAACTGATGCTTGATCTCAATAAGGCCAAATCTATGGGCCAGCGACTGTCTTTAATCTCTAAATTCCGATTTAATTTCCTAGCACCTGAGGTAAGGCTTGTGTTTGCAGGGCATCCCACTGCAGAGATTTAGAATTAGGTATGGCAGTGTGGACTCTGCTATGCTGTAATAGGTGTAGATTCTGTAGTTACAGGAAAGGGTTAATTACTTGCTCAAGATGGAAAAAAAAGATAGTGGTTAGAAAACTTTAATTTGTGAGCCCTCTTTAGAGATCCTCTTTAGAGATCCTCTGCTTGTCTTGGACTTGATTGATTAATGGTAGACAAATAGATTTTAACTTTTCCAAATAACACAGAACAATCCTAGGTGTTAGCATAACACCGGTTAACAGTGTACCTGCTCCTTGGATATCTCCTTTCCCAGCTCCCTGCGGTTTCTGAGTTCTCCACCAGTGAGACCATGGGCCACTCTGCAGACCGACTGGCCGCTGCCTTTGCTGTTTCTCGGCTGGAACAGGATGAATATGCACTGCGCTCTCACAGTCTAGCCAAGAAGGCACAGGATGAAGGACTCCTTTCTGATGTGGTACCCTTCAAAGTACCAGGTGAAATGAAATGCTTCATGACACTTATTAGGGAGTTCTGAATTGCTCCTAAAACTCAAAAACATCCCGAGTGATTTTTCCATAAGTATGTTGGTTCTGTTTCCAAAGTATTCAGCCTTTATTCTTAAATATGGATGCAAATTTTGATTTATGTTGTAACAATAGGTTAACATTTTTTAATGTTTCTATAAGAGTGTCCTTTTAAGATCTGAGCACTAATCTCAGCACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGGCCAGGAGTTCAAGACCAGCCTGGTCAACAGCGTGAGACTTCATCTCTAATTAAAAAAAAAAAAAAGAAAAACAGAGTCTCCTTTTAGATCTTGCTGATATATTTTAGTTCTTACATACATGCCTGTTTTTAAAATTCCTGAATCGTCTGACTTCTGTATAGAATAGCCAACTGTGAATGAATGTCTTAAGAAAATAGGGTGTCCTATTTTTAGTAAAGCATTTAGATGATTTCCCAATTGTCTTTTAAGACTTTAGTTTAAAATTTGATAATATGATAATTATAAAACACTTTCCTTCTAGTGAATAGGTAAGGTTTATATTTCATTTGTTTTTGTAATTTTTAAAGCATATTTCTGTGGAGAAGATATATAAGGCTTGTGGTTCCATAGAGTTAAAAAAATTCATTTTTTTAATAGGAAAAGATACAGTTACCAAAGATAATGGCATCCGTCCTTCCTCACTGGAGCAGATGGCCAAACTAAAACCTGCATTCATCAAGCCCTACGGCACAGTGACAGCTGCAAATTCTTCTTTCTTGGTAACTGTCAATGTTATTTGTATTTAGTAGTGACTTTTCTATTTCTGTACTCTCTGTAGAAAAGCCTAATATAACTTTTTGTGTGTGTTATGAATAGAGGGTTAAAAATATAGTTATTCATTTTAATGTGAAAGTGGAGTCATTAAAAAAAAAATAGAATCACGGTTTTAAGGCCCGAGAAGTCACCTAATCCAGCCACCATTCTGCCACAAAAGCTCTTCCTTTCAGGCACTTAACCAGTCAAAAACTTCTATTGCTTATGGTGGGCCCTGGAAATGAAAAGAATAGACAATTGCAATATAGTGAGATGCTGTGATGGCTGTAAGGCTTAGGTCGAACCCCTGACCCAGATGGGGGGACAGTCAGAGAGTCTTCTTGGAAGAGGTAACACTTGAGCAGCAAATCTTGAAGGAAGAGTAAAAGCCAACTCAGGAAGGATTTTAAAAGGCATTTCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTTGAGGCAGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGAGCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCAGATGTGGTGGCACATGCCTGTTAATCCCGGCTACTCGGGAGGCTGAGGCAAGAGAATTGCTTGAACCCTGGAGGCGTGGAGGTTGCGGTGAGCCAAGATCGCACCATTGCACTCCAGCCTGCACAAGAGCGAAACTCCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGCATTTTGGACAAAGGGAATAGCAAATGCAAAATCAAGGAAGTATGAGAGCAAGGGGTTCTTTGGGGAAAAGTTAGGTTGGAGCATAAGGTATGAACTGGGAAGTCGCAGAAGACAAGGAAAAGCAGGCAGAAAGAGTAACAGGATACCTCTTCCAGCCCTGATTGTTAGAAAACTGCTTTACACTGACCCCAATATTATTTTCCTGTAAGCATCATGGAACAAATCTACCACTGTTTGTTTTGTGTTTTTTTTTTAACTTATCAACATGTAGCTTCATATCCTTCCATGCTTTTCTGACTCCTCAATTAAACATCTTTATTGATTCTGCTGCTGCTTGTAAGATGTGATTTCTCTTCTCTTACCACCTTGGGTATAGTCTTCTGGATATAGGCCATCTGGTCAGAGTTTCTCTTACAATGTAACTCTCCTACCTGGCCATAAAGTCTTGAAAACAT
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TTTTTTTTTTTTAACACAGAACCTCACTCTGTCACTCAGGCTGGAGTGCAGTGGTACCATCATAGCTCACTGCAGGCTCAAACTCTTGAGCTCAAGAGATCATCCTGCCTTAGGATCCCAAGTAGCTGGGTCTACAGGTGCTCCACCACACCCAGCTAATTTTTAAATTTTTTGTGGAGACGGGATCTCGCCATGTTGCCCAGGCTGGTCTTAAACCTCTGGCCTCAAGTGATCCTTCTACCTCAGCCTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCTCATCCCAAAAAGTACTCTTAACAGAAGTAAAAGATTAGCACAGATCTCTATACTTGTGTTTTTTAAAAAGTAAGGTCAGGTTTAAAATTTGGGGGTTCTAACCGTAGTTAACCTCTTTTTTTGCTCTCCATACCTGAGGAACATTACCATTGGCGTGGTTCCTCTGTGAATAATGTGGCTGGCTGCAGCAGGGATTATCAACTGGAGGAGTGTATCTCTAGGAAGGTACTTCAGCATCTGAGGCATGAGTAAATAGTTTACAACCTGCCAGGCTTTCAACCTAGGTGCTTCAGATATGATATTTTCCCACAAAGATATGGTCTTCCTTCCTTCACCACTACCATACTTGTAAATCATTGCTTTAGATGGCACAGCTCTTTCCTTCACTTTCTCCTTACATCCTTGTCATTTTTATAAATCACTGAAAACCCCACTAACAAACTTTAGCAAAACTGTGGGATATTTTGTAGCATCAGCTCTTAGTGTGAGGAGGCAAGGAAGCCTGAAAGATTTAGTAATCATGTGCTCATCTAGTAACATCAAGGCCCAGGTGGGCACCCCACCTCATGTGTGGCGGGGAATGATGCCCGTGACTGGGGGCGTTCGCCACTCTAGGCAGCATGTGACCAACTCCTGGTTAGAGAAACAGAATACTGGCCAGTGGCCATAAGGAGAGAGGGGGCCTGCCTTACGTTTCAACAGCTGTAATTTCTCTGCTTTGCAGCAGAAGTTAACATTCTCTTTATAGGATAAAAAATCTTTATTAAAACTAAAGCTGGGAGCATATAAATATGCAAGATGTTCTGGTTTGGAATATGATTTGTTCAAGAGTTGGTCCAATGGATATTCCTAGAAGTTGACGTCCATATGGCAGGAATGAAACTTGTTTTTCTCTAACGTGTTGAATGTGTTTTTAGTCATTTAAGAAAATTACCTTAATTCTTCTGAAAAGTTGAAAACTTTAATTACAGATGTTGTACAAAGCTGATAACTGTCATTCAGCTTTTTAATCAAGAAGCTTAAATTGGAATGGTATGTTATTTTCTGTAAAAGATATTCATGAAGTATAACCTGTGCCCTGTAGGTGTTGGCTTGATTGCTTCTGGCCAGTGTGATGTGATCGTGGCAGGTGGTGTTGAGTTGATGTCCGATGTCCCTATTCGTCACTCAAGGAAAATGAGAAAACTGATGCTTGATCTCAATAAGGCCAAATCTATGGGCCAGCGACTGTCTTTAATCTCTAAATTCCGATTTAATTTCCTAGCACCTGAGGTAAGGCTTGTGTTTGCAGGGCATCCCACTGCAGAGATTTAGAATTAGGTATGGCAGTGTGGACTCTGCTATGCTGTAATAGGTGTAGATTCTGTAGTTACAGGAAAGGGTTAATTACTTGCTCAAGATGGAAAAAAAAGATAGTGGTTAGAAAACTTTAATTTGTGAGCCCTCTTTAGAGATCCTCTTTAGAGATCCTCTGCTTGTCTTGGACTTGATTGATTAATGGTAGACAAATAGATTTTAACTTTTCCAAATAACACAGAACAATCCTAGGTGTTAGCATAACACCGGTTAACAGTGTACCTGCTCCTTGGATATCTCCTTTCCCAGCTCCCTGCGGTTTCTGAGTTCTCCACCAGTGAGACCATGGGCCACTCTGCAGACCGACTGGCCGCTGCCTTTGCTGTTTCTCGGCTGGAACAGGATGAATATGCACTGCGCTCTCACAGTCTAGCCAAGAAGGCACAGGATGAAGGACTCCTTTCTGGTGTGGTACCCTTCAAAGTACCAGGTGAAATGAAATGCTTCATGACACTTATTAGGGAGTTCTGAATTGCTCCTAAAACTCAAAAACATCCCGAGTGATTTTTCCATAAGTATGTTGGTTCTGTTTCCAAAGTATTCAGCCTTTATTCTTAAATATGGATGCAAATTTTGATTTATGTTGTAACAATAGGTTAACATTTTTTAATGTTTCTATAAGAGTGTCCTTTTAAGATCTGAGCACTAATCTCAGCACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGGCCAGGAGTTCAAGACCAGCCTGGTCAACAGCGTGAGACTTCATCTCTAATTAAAAAAAAAAAAAAGAAAAACAGAGTCTCCTTTTAGATCTTGCTGATATATTTTAGTTCTTACATACATGCCTGTTTTTAAAATTCCTGAATCGTCTGACTTCTGTATAGAATAGCCAACTGTGAATGAATGTCTTAAGAAAATAGGGTGTCCTATTTTTAGTAAAGCATTTAGATGATTTCCCAATTGTCTTTTAAGACTTTAGTTTAAAATTTGATAATATGATAATTATAAAACACTTTCCTTCTAGTGAATAGGTAAGGTTTATATTTCATTTGTTTTTGTAATTTTTAAAGCATATTTCTGTGGAGAAGATATATAAGGCTTGTGGTTCCATAGAGTTAAAAAAATTCATTTTTTTAATAGGAAAAGATACAGTTACCAAAGATAATGGCATCCGTCCTTCCTCACTGGAGCAGATGGCCAAACTAAAACCTGCATTCATCAAGCCCTACGGCACAGTGACAGCTGCAAATTCTTCTTTCTTGGTAACTGTCAATGTTATTTGTATTTAGTAGTGACTTTTCTATTTCTGTACTCTCTGTAGAAAAGCCTAATATAACTTTTTGTGTGTGTTATGAATAGAGGGTTAAAAATATAGTTATTCATTTTAATGTGAAAGTGGAGTCATTAAAAAAAAAATAGAATCACGGTTTTAAGGCCCGAGAAGTCACCTAATCCAGCCACCATTCTGCCACAAAAGCTCTTCCTTTCAGGCACTTAACCAGTCAAAAACTTCTATTGCTTATGGTGGGCCCTGGAAATGAAAAGAATAGACAATTGCAATATAGTGAGATGCTGTGATGGCTGTAAGGCTTAGGTCGAACCCCTGACCCAGATGGGGGGACAGTCAGAGAGTCTTCTTGGAAGAGGTAACACTTGAGCAGCAAATCTTGAAGGAAGAGTAAAAGCCAACTCAGGAAGGATTTTAAAAGGCATTTCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTTGAGGCAGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGAGCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCAGATGTGGTGGCACATGCCTGTTAATCCCGGCTACTCGGGAGGCTGAGGCAAGAGAATTGCTTGAACCCTGGAGGCGTGGAGGTTGCGGTGAGCCAAGATCGCACCATTGCACTCCAGCCTGCACAAGAGCGAAACTCCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGCATTTTGGACAAAGGGAATAGCAAATGCAAAATCAAGGAAGTATGAGAGCAAGGGGTTCTTTGGGGAAAAGTTAGGTTGGAGCATAAGGTATGAACTGGGAAGTCGCAGAAGACAAGGAAAAGCAGGCAGAAAGAGTAACAGGATACCTCTTCCAGCCCTGATTGTTAGAAAACTGCTTTACACTGACCCCAATATTATTTTCCTGTAAGCATCATGGAACAAATCTACCACTGTTTGTTTTGTGTTTTTTTTTTAACTTATCAACATGTAGCTTCATATCCTTCCATGCTTTTCTGACTCCTCAATTAAACATCTTTATTGATTCTGCTGCTGCTTGTAAGATGTGATTTCTCTTCTCTTACCACCTTGGGTATAGTCTTCTGGATATAGGCCATCTGGTCAGAGTTTCTCTTACAATGTAACTCTCCTACCTGGCCATAAAGTCTTGAAAACAT
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Task1_train_3185
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Chromosome 2 houses a mutation in gene HADHB (hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Mitochondrial trifunctional protein deficiency
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TGGTGCATCTGCAATGTTAATCATGGCGGAGGAAAAGGCTCTGGCCATGGGTTATAAGCCGAAGGCATATTTGAGGTAAAGTAAATGTTCAAACAAATCATCTCTGATTTCTTTATTTTATTACCAAAGCTCACCTCTCTATTTTTTTACCTAGGGATTTTATGTATGTGTCTCAGGATCCAAAAGATCAACTATTACTTGGGTAGGTAGCAGTTTGTATCCTTGGACTATAATCACAAGTATTTGATTGCCTATGTTTTATTATACTGGTTAATAAATGATTAACACTGGTTTATTATTTATTTGTTTATTACACTGGTTTGAGAGTATATTAAGCCCTGAGTTCATAATTGGTTTATGTGGTGGTTTTTTTAAAAAAAATAATAGTAATCTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGACCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAGCCCTATCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGTTTTGGCAAGAGAATGGCATGAACCCGAGAGGCAGAGCTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAATAAATAAATAAATAAAATAGTAGTAATCCTTTCCATTGGTATATCATGTTACAGTTTTGGATTATTTTCCATTTTTTTCCTATAAGTTTTACATATATATATGGACACACACAACTTATATTCTTTTTCATTAAGATAGCATATGCATTTTTTCATATGGCTACACACCCTGCTACACAATCTTCCTAATATAGCCTTTTATAAAAGCCTCCCCATGTTTAGACTCTGTTCCGTTCCCTCACAAGGCTGTAGCCTCTAGCCTCCACTGTGACGTTCACATCAGTCAAGCCCTTTCCCTTGCCTTGCTCTTTGAACTCTGTTCTTCCAGTTCTTCATGTTATTAGCTTGTCCTTATCCCTCACTGTTTATTTATTATCAATTTCTCTGACTCTGCAACATAAGAGTAGAGGGCATGTCTGTACAGTTTCACTATTTTATCTTTAACATTTCATTAATCAGTACAGAAAAATCAAAGAATGAGTGAAAAGACATTAGAGTACCTATGTAAAACTCAGTTTGGGGAATATGAAGGAGCTCTTAGTTTAAAAATTAAAGTTTTAAGATATTACTTATTTTTTCTTTGCAGACCAACATATGCTACTCCAAAAGTTCTAGAAAAGGCAGGATTGACCATGAATGATATTGATGCTTTTGAATTTCATGAAGCTTTCTCGGTAAGTAATTTGAAAGACACATATGAAGGGACTATAGTCATAAAAAATGTCATCCATATTTGTGGGAGAGAGCAAGGCATGGTTTATGATGTGAGTAGAGCAGGAGTGGACCTGCATATTTTAAGTACTGATTCACACTGCTGGGAGGGGCCCGAGGGGAGGGAAGCAAGGGCCACACATACAGTGTTGGAGAACATACCAAATTGCTTCTTTAGGAAATTGCCATTGAAAACTGATACAAAGATTTGTTCAACTTTACTTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTCTGTTGCCCCAGCTGGAGTGTAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTTCCAGGTTCAAGCAATTTTCTTGTCTCAGCCTCCCGAGTAGCTGGGACAAGCAGGCGCCTGCCACCATGCCCGACTAATTTTTTTTATATTTTTAATAGAGACAGGGTTTCACCATATTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACTGTGCCTGGCCGATTTGTTCAACTTTAAACCATACCTAAAGTTGTTAAACTTTCACAAACCATTCCTATAAGAAAGCGTAGAGGAACATGAATAACGAGGTTCTTATTCGATTATTTTCTCTTCCAGGGTCAGATTTTGGCAAATTTTAAAGCCATGGATTCTGATTGGTTTGCAGAAAACTACATGGGTAGAAAAACCAAGGTGAGTTTCTAATTTTAAAAAATGCGTGAATTTTCAAAGCACGTTAATAATTGGATCTTAGTTACCTGTTCTTAAGAATATGAAGGGAAAGCTTCTCTTTCTTTTGAAGAATTTTGTCTTTCATTAAAGATATTTATTTCTTAGTGTAAAAGTAGAAATTCTTGTATTTCATTAAATATATTTATTTCTTAGTTTAAAAATAGAAATTATTTAGCAAAAATAAAATTCTGTGTTTTTTGTTCCTTGCATTCTGACATTAGATGAAAAATAAATGGACTCCTGACTTTTAATATTGACCTAGACTTACTTTCTTTTGCAGTAAAATTATTTGTAATATGTCTGACGTTACGTATTTTCCTCTATCTCTCTTACTTCGTAGTACTAAGAGCCTAGCTTGATTCTGATCTTAAGTAAACTTATCTTTACATTTGTGTCTTTGGGGGAGCCAGGTTGGATTGCCTCCTTTGGAGAAGTTTAATAACTGGGGTGGATCTCTGTCCCTGGGACACCCATTTGGAGCCACTGGCTGCAGGTTGGTCATGGCTGCTGCCAACAGATTACGGAAAGAAGGAGGCCAGTATGGCTTAGTGGCTGCGTGTGCAGCTGGAGGGCAGGTACGTTACAGTGGTGTCATAGGACCCTCCAGAGAGTCATTTTCTTGGAATGACTAGAATGTATGATTTAGTTTGAAACCTTCTTAAAGCAATATTTTTGATGACCTGGGGGTGGGGAGTGGGGAGGGATAACAGCTGTAATTCTGATAAAACTTTTTGTTTTTTGGGTTTTTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCACCCAGGTTGGAATGCAGTGGTAATATCTTAGCTCACTGCAACCTCCACTTCCCGGATTCAGGTGATTCTCGTGCCTCAGCCTCCCGAGCAGTTGAGATTACAGGTGTGCACCACCATGTCCAGTTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCGCCATGTTGGCCAGGCTAGTCTCGAATTGCCGACTTCAAGTGATCCACCCTCCTTGGCCTCCCAAAGTGCTGTGATTACAGGCATGAGCCACCATGCCCTGCCATAATTCTGATAATTCTTTGGAAGGAAACAGCTATTTAAACCCAAGCTATTTTTCCCCAATATAATGTTTATTTTTTACTTATAAATATATGCTGATTATGAAAATTGTGGAATATATGAAAAGTATATAGAAAAAGTTAGAATCATCTATAATCTCCCCATCAGACATTAACATTATTAACATCTTGATATATTTTCTTCTTTAATAATTAACTTTTATTTATCTAGTCACCATAAGACTTTATAAAATCTCTCCAAGAGAGAAACTATCTTTCTAGAGAACTGAATTATACCTTAACTGGGGAGTTAATTTACTTCTGGATAACTTACTGCTGTTCAGCTGGGGAAATATATTGTTGACAGATTTTTTCCTTTCTACTTCACTTGCATTAGAGACCCAACTTCCTGACTGCTGTAGCATCTCACTCTAGGAATAAAATCCAAAAGGAAGATTGTAGTTTGTTTTTTGTTTGTTTGTTTTTTGAGACAGAGTCTCACTCTGTCCCCCAGGCTGGAGTGCAGTGGTGCCACCTCGGCTCACTGCAACCTCTGCCTCGCGAGTTCAAGCGATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCTCACCACCAAGCCCGGGCAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTATTGGCCAGGCCGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCTGGCCTGTTTTTGTTTTTTTTTTTTTTTTTTAATCCCGATGTGAACAGATTTTCTCTTCCTCTAGATTACAGAAACTTCCTGTTCCTGATCAAAATGAATAAATATTTAAAAGCATAAACTGGCCGGGTGCAGTGGCTCACGCCT
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TGGTGCATCTGCAATGTTAATCATGGCGGAGGAAAAGGCTCTGGCCATGGGTTATAAGCCGAAGGCATATTTGAGGTAAAGTAAATGTTCAAACAAATCATCTCTGATTTCTTTATTTTATTACCAAAGCTCACCTCTCTATTTTTTTACCTAGGGATTTTATGTATGTGTCTCAGGATCCAAAAGATCAACTATTACTTGGGTAGGTAGCAGTTTGTATCCTTGGACTATAATCACAAGTATTTGATTGCCTATGTTTTATTATACTGGTTAATAAATGATTAACACTGGTTTATTATTTATTTGTTTATTACACTGGTTTGAGAGTATATTAAGCCCTGAGTTCATAATTGGTTTATGTGGTGGTTTTTTTAAAAAAAATAATAGTAATCTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGACCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAGCCCTATCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGTTTTGGCAAGAGAATGGCATGAACCCGAGAGGCAGAGCTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAATAAATAAATAAATAAAATAGTAGTAATCCTTTCCATTGGTATATCATGTTACAGTTTTGGATTATTTTCCATTTTTTTCCTATAAGTTTTACATATATATATGGACACACACAACTTATATTCTTTTTCATTAAGATAGCATATGCATTTTTTCATATGGCTACACACCCTGCTACACAATCTTCCTAATATAGCCTTTTATAAAAGCCTCCCCATGTTTAGACTCTGTTCCGTTCCCTCACAAGGCTGTAGCCTCTAGCCTCCACTGTGACGTTCACATCAGTCAAGCCCTTTCCCTTGCCTTGCTCTTTGAACTCTGTTCTTCCAGTTCTTCATGTTATTAGCTTGTCCTTATCCCTCACTGTTTATTTATTATCAATTTCTCTGACTCTGCAACATAAGAGTAGAGGGCATGTCTGTACAGTTTCACTATTTTATCTTTAACATTTCATTAATCAGTACAGAAAAATCAAAGAATGAGTGAAAAGACATTAGAGTACCTATGTAAAACTCAGTTTGGGGAATATGAAGGAGCTCTTAGTTTAAAAATTAAAGTTTTAAGATATTACTTATTTTTTCTTTGCAGACCAACATATGCTACTCCAAAAGTTCTAGAAAAGGCAGGATTGACCATGAATGATATTGATGCTTTTGAATTTCATGAAGCTTTCTCGGTAAGTAATTTGAAAGACACATATGAAGGGACTATAGTCATAAAAAATGTCATCCATATTTGTGGGAGAGAGCAAGGCATGGTTTATGATGTGAGTAGAGCAGGAGTGGACCTGCATATTTTAAGTACTGATTCACACTGCTGGGAGGGGCCCGAGGGGAGGGAAGCAAGGGCCACACATACAGTGTTGGAGAACATACCAAATTGCTTCTTTAGGAAATTGCCATTGAAAACTGATACAAAGATTTGTTCAACTTTACTTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTCTGTTGCCCCAGCTGGAGTGTAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTTCCAGGTTCAAGCAATTTTCTTGTCTCAGCCTCCCGAGTAGCTGGGACAAGCAGGCGCCTGCCACCATGCCCGACTAATTTTTTTTATATTTTTAATAGAGACAGGGTTTCACCATATTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACTGTGCCTGGCCGATTTGTTCAACTTTAAACCATACCTAAAGTTGTTAAACTTTCACAAACCATTCCTATAAGAAAGCGTAGAGGAACATGAATAACGAGGTTCTTATTCGATTATTTTCTCTTCCAGGGTCAGATTTTGGCAGATTTTAAAGCCATGGATTCTGATTGGTTTGCAGAAAACTACATGGGTAGAAAAACCAAGGTGAGTTTCTAATTTTAAAAAATGCGTGAATTTTCAAAGCACGTTAATAATTGGATCTTAGTTACCTGTTCTTAAGAATATGAAGGGAAAGCTTCTCTTTCTTTTGAAGAATTTTGTCTTTCATTAAAGATATTTATTTCTTAGTGTAAAAGTAGAAATTCTTGTATTTCATTAAATATATTTATTTCTTAGTTTAAAAATAGAAATTATTTAGCAAAAATAAAATTCTGTGTTTTTTGTTCCTTGCATTCTGACATTAGATGAAAAATAAATGGACTCCTGACTTTTAATATTGACCTAGACTTACTTTCTTTTGCAGTAAAATTATTTGTAATATGTCTGACGTTACGTATTTTCCTCTATCTCTCTTACTTCGTAGTACTAAGAGCCTAGCTTGATTCTGATCTTAAGTAAACTTATCTTTACATTTGTGTCTTTGGGGGAGCCAGGTTGGATTGCCTCCTTTGGAGAAGTTTAATAACTGGGGTGGATCTCTGTCCCTGGGACACCCATTTGGAGCCACTGGCTGCAGGTTGGTCATGGCTGCTGCCAACAGATTACGGAAAGAAGGAGGCCAGTATGGCTTAGTGGCTGCGTGTGCAGCTGGAGGGCAGGTACGTTACAGTGGTGTCATAGGACCCTCCAGAGAGTCATTTTCTTGGAATGACTAGAATGTATGATTTAGTTTGAAACCTTCTTAAAGCAATATTTTTGATGACCTGGGGGTGGGGAGTGGGGAGGGATAACAGCTGTAATTCTGATAAAACTTTTTGTTTTTTGGGTTTTTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCACCCAGGTTGGAATGCAGTGGTAATATCTTAGCTCACTGCAACCTCCACTTCCCGGATTCAGGTGATTCTCGTGCCTCAGCCTCCCGAGCAGTTGAGATTACAGGTGTGCACCACCATGTCCAGTTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCGCCATGTTGGCCAGGCTAGTCTCGAATTGCCGACTTCAAGTGATCCACCCTCCTTGGCCTCCCAAAGTGCTGTGATTACAGGCATGAGCCACCATGCCCTGCCATAATTCTGATAATTCTTTGGAAGGAAACAGCTATTTAAACCCAAGCTATTTTTCCCCAATATAATGTTTATTTTTTACTTATAAATATATGCTGATTATGAAAATTGTGGAATATATGAAAAGTATATAGAAAAAGTTAGAATCATCTATAATCTCCCCATCAGACATTAACATTATTAACATCTTGATATATTTTCTTCTTTAATAATTAACTTTTATTTATCTAGTCACCATAAGACTTTATAAAATCTCTCCAAGAGAGAAACTATCTTTCTAGAGAACTGAATTATACCTTAACTGGGGAGTTAATTTACTTCTGGATAACTTACTGCTGTTCAGCTGGGGAAATATATTGTTGACAGATTTTTTCCTTTCTACTTCACTTGCATTAGAGACCCAACTTCCTGACTGCTGTAGCATCTCACTCTAGGAATAAAATCCAAAAGGAAGATTGTAGTTTGTTTTTTGTTTGTTTGTTTTTTGAGACAGAGTCTCACTCTGTCCCCCAGGCTGGAGTGCAGTGGTGCCACCTCGGCTCACTGCAACCTCTGCCTCGCGAGTTCAAGCGATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCTCACCACCAAGCCCGGGCAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTATTGGCCAGGCCGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCTGGCCTGTTTTTGTTTTTTTTTTTTTTTTTTAATCCCGATGTGAACAGATTTTCTCTTCCTCTAGATTACAGAAACTTCCTGTTCCTGATCAAAATGAATAAATATTTAAAAGCATAAACTGGCCGGGTGCAGTGGCTCACGCCT
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Task1_train_3186
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A variant affecting Chromosome 2, within the gene HADHB (hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Mitochondrial trifunctional protein deficiency 1
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TGGTGCATCTGCAATGTTAATCATGGCGGAGGAAAAGGCTCTGGCCATGGGTTATAAGCCGAAGGCATATTTGAGGTAAAGTAAATGTTCAAACAAATCATCTCTGATTTCTTTATTTTATTACCAAAGCTCACCTCTCTATTTTTTTACCTAGGGATTTTATGTATGTGTCTCAGGATCCAAAAGATCAACTATTACTTGGGTAGGTAGCAGTTTGTATCCTTGGACTATAATCACAAGTATTTGATTGCCTATGTTTTATTATACTGGTTAATAAATGATTAACACTGGTTTATTATTTATTTGTTTATTACACTGGTTTGAGAGTATATTAAGCCCTGAGTTCATAATTGGTTTATGTGGTGGTTTTTTTAAAAAAAATAATAGTAATCTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGACCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAGCCCTATCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGTTTTGGCAAGAGAATGGCATGAACCCGAGAGGCAGAGCTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAATAAATAAATAAATAAAATAGTAGTAATCCTTTCCATTGGTATATCATGTTACAGTTTTGGATTATTTTCCATTTTTTTCCTATAAGTTTTACATATATATATGGACACACACAACTTATATTCTTTTTCATTAAGATAGCATATGCATTTTTTCATATGGCTACACACCCTGCTACACAATCTTCCTAATATAGCCTTTTATAAAAGCCTCCCCATGTTTAGACTCTGTTCCGTTCCCTCACAAGGCTGTAGCCTCTAGCCTCCACTGTGACGTTCACATCAGTCAAGCCCTTTCCCTTGCCTTGCTCTTTGAACTCTGTTCTTCCAGTTCTTCATGTTATTAGCTTGTCCTTATCCCTCACTGTTTATTTATTATCAATTTCTCTGACTCTGCAACATAAGAGTAGAGGGCATGTCTGTACAGTTTCACTATTTTATCTTTAACATTTCATTAATCAGTACAGAAAAATCAAAGAATGAGTGAAAAGACATTAGAGTACCTATGTAAAACTCAGTTTGGGGAATATGAAGGAGCTCTTAGTTTAAAAATTAAAGTTTTAAGATATTACTTATTTTTTCTTTGCAGACCAACATATGCTACTCCAAAAGTTCTAGAAAAGGCAGGATTGACCATGAATGATATTGATGCTTTTGAATTTCATGAAGCTTTCTCGGTAAGTAATTTGAAAGACACATATGAAGGGACTATAGTCATAAAAAATGTCATCCATATTTGTGGGAGAGAGCAAGGCATGGTTTATGATGTGAGTAGAGCAGGAGTGGACCTGCATATTTTAAGTACTGATTCACACTGCTGGGAGGGGCCCGAGGGGAGGGAAGCAAGGGCCACACATACAGTGTTGGAGAACATACCAAATTGCTTCTTTAGGAAATTGCCATTGAAAACTGATACAAAGATTTGTTCAACTTTACTTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTCTGTTGCCCCAGCTGGAGTGTAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTTCCAGGTTCAAGCAATTTTCTTGTCTCAGCCTCCCGAGTAGCTGGGACAAGCAGGCGCCTGCCACCATGCCCGACTAATTTTTTTTATATTTTTAATAGAGACAGGGTTTCACCATATTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACTGTGCCTGGCCGATTTGTTCAACTTTAAACCATACCTAAAGTTGTTAAACTTTCACAAACCATTCCTATAAGAAAGCGTAGAGGAACATGAATAACGAGGTTCTTATTCGATTATTTTCTCTTCCAGGGTCAGATTTTGGCAAATTTTAAAGCCATGGATTCTGATTGGTTTGCAGAAAACTACATGGGTAGAAAAACCAAGGTGAGTTTCTAATTTTAAAAAATGCGTGAATTTTCAAAGCACGTTAATAATTGGATCTTAGTTACCTGTTCTTAAGAATATGAAGGGAAAGCTTCTCTTTCTTTTGAAGAATTTTGTCTTTCATTAAAGATATTTATTTCTTAGTGTAAAAGTAGAAATTCTTGTATTTCATTAAATATATTTATTTCTTAGTTTAAAAATAGAAATTATTTAGCAAAAATAAAATTCTGTGTTTTTTGTTCCTTGCATTCTGACATTAGATGAAAAATAAATGGACTCCTGACTTTTAATATTGACCTAGACTTACTTTCTTTTGCAGTAAAATTATTTGTAATATGTCTGACGTTACGTATTTTCCTCTATCTCTCTTACTTCGTAGTACTAAGAGCCTAGCTTGATTCTGATCTTAAGTAAACTTATCTTTACATTTGTGTCTTTGGGGGAGCCAGGTTGGATTGCCTCCTTTGGAGAAGTTTAATAACTGGGGTGGATCTCTGTCCCTGGGACACCCATTTGGAGCCACTGGCTGCAGGTTGGTCATGGCTGCTGCCAACAGATTACGGAAAGAAGGAGGCCAGTATGGCTTAGTGGCTGCGTGTGCAGCTGGAGGGCAGGTACGTTACAGTGGTGTCATAGGACCCTCCAGAGAGTCATTTTCTTGGAATGACTAGAATGTATGATTTAGTTTGAAACCTTCTTAAAGCAATATTTTTGATGACCTGGGGGTGGGGAGTGGGGAGGGATAACAGCTGTAATTCTGATAAAACTTTTTGTTTTTTGGGTTTTTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCACCCAGGTTGGAATGCAGTGGTAATATCTTAGCTCACTGCAACCTCCACTTCCCGGATTCAGGTGATTCTCGTGCCTCAGCCTCCCGAGCAGTTGAGATTACAGGTGTGCACCACCATGTCCAGTTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCGCCATGTTGGCCAGGCTAGTCTCGAATTGCCGACTTCAAGTGATCCACCCTCCTTGGCCTCCCAAAGTGCTGTGATTACAGGCATGAGCCACCATGCCCTGCCATAATTCTGATAATTCTTTGGAAGGAAACAGCTATTTAAACCCAAGCTATTTTTCCCCAATATAATGTTTATTTTTTACTTATAAATATATGCTGATTATGAAAATTGTGGAATATATGAAAAGTATATAGAAAAAGTTAGAATCATCTATAATCTCCCCATCAGACATTAACATTATTAACATCTTGATATATTTTCTTCTTTAATAATTAACTTTTATTTATCTAGTCACCATAAGACTTTATAAAATCTCTCCAAGAGAGAAACTATCTTTCTAGAGAACTGAATTATACCTTAACTGGGGAGTTAATTTACTTCTGGATAACTTACTGCTGTTCAGCTGGGGAAATATATTGTTGACAGATTTTTTCCTTTCTACTTCACTTGCATTAGAGACCCAACTTCCTGACTGCTGTAGCATCTCACTCTAGGAATAAAATCCAAAAGGAAGATTGTAGTTTGTTTTTTGTTTGTTTGTTTTTTGAGACAGAGTCTCACTCTGTCCCCCAGGCTGGAGTGCAGTGGTGCCACCTCGGCTCACTGCAACCTCTGCCTCGCGAGTTCAAGCGATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCTCACCACCAAGCCCGGGCAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTATTGGCCAGGCCGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCTGGCCTGTTTTTGTTTTTTTTTTTTTTTTTTAATCCCGATGTGAACAGATTTTCTCTTCCTCTAGATTACAGAAACTTCCTGTTCCTGATCAAAATGAATAAATATTTAAAAGCATAAACTGGCCGGGTGCAGTGGCTCACGCCT
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TGGTGCATCTGCAATGTTAATCATGGCGGAGGAAAAGGCTCTGGCCATGGGTTATAAGCCGAAGGCATATTTGAGGTAAAGTAAATGTTCAAACAAATCATCTCTGATTTCTTTATTTTATTACCAAAGCTCACCTCTCTATTTTTTTACCTAGGGATTTTATGTATGTGTCTCAGGATCCAAAAGATCAACTATTACTTGGGTAGGTAGCAGTTTGTATCCTTGGACTATAATCACAAGTATTTGATTGCCTATGTTTTATTATACTGGTTAATAAATGATTAACACTGGTTTATTATTTATTTGTTTATTACACTGGTTTGAGAGTATATTAAGCCCTGAGTTCATAATTGGTTTATGTGGTGGTTTTTTTAAAAAAAATAATAGTAATCTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGACCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAGCCCTATCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGTTTTGGCAAGAGAATGGCATGAACCCGAGAGGCAGAGCTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAATAAATAAATAAATAAAATAGTAGTAATCCTTTCCATTGGTATATCATGTTACAGTTTTGGATTATTTTCCATTTTTTTCCTATAAGTTTTACATATATATATGGACACACACAACTTATATTCTTTTTCATTAAGATAGCATATGCATTTTTTCATATGGCTACACACCCTGCTACACAATCTTCCTAATATAGCCTTTTATAAAAGCCTCCCCATGTTTAGACTCTGTTCCGTTCCCTCACAAGGCTGTAGCCTCTAGCCTCCACTGTGACGTTCACATCAGTCAAGCCCTTTCCCTTGCCTTGCTCTTTGAACTCTGTTCTTCCAGTTCTTCATGTTATTAGCTTGTCCTTATCCCTCACTGTTTATTTATTATCAATTTCTCTGACTCTGCAACATAAGAGTAGAGGGCATGTCTGTACAGTTTCACTATTTTATCTTTAACATTTCATTAATCAGTACAGAAAAATCAAAGAATGAGTGAAAAGACATTAGAGTACCTATGTAAAACTCAGTTTGGGGAATATGAAGGAGCTCTTAGTTTAAAAATTAAAGTTTTAAGATATTACTTATTTTTTCTTTGCAGACCAACATATGCTACTCCAAAAGTTCTAGAAAAGGCAGGATTGACCATGAATGATATTGATGCTTTTGAATTTCATGAAGCTTTCTCGGTAAGTAATTTGAAAGACACATATGAAGGGACTATAGTCATAAAAAATGTCATCCATATTTGTGGGAGAGAGCAAGGCATGGTTTATGATGTGAGTAGAGCAGGAGTGGACCTGCATATTTTAAGTACTGATTCACACTGCTGGGAGGGGCCCGAGGGGAGGGAAGCAAGGGCCACACATACAGTGTTGGAGAACATACCAAATTGCTTCTTTAGGAAATTGCCATTGAAAACTGATACAAAGATTTGTTCAACTTTACTTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTCTGTTGCCCCAGCTGGAGTGTAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTTCCAGGTTCAAGCAATTTTCTTGTCTCAGCCTCCCGAGTAGCTGGGACAAGCAGGCGCCTGCCACCATGCCCGACTAATTTTTTTTATATTTTTAATAGAGACAGGGTTTCACCATATTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACTGTGCCTGGCCGATTTGTTCAACTTTAAACCATACCTAAAGTTGTTAAACTTTCACAAACCATTCCTATAAGAAAGCGTAGAGGAACATGAATAACGAGGTTCTTATTCGATTATTTTCTCTTCCAGGGTCAGATTTTGGCAGATTTTAAAGCCATGGATTCTGATTGGTTTGCAGAAAACTACATGGGTAGAAAAACCAAGGTGAGTTTCTAATTTTAAAAAATGCGTGAATTTTCAAAGCACGTTAATAATTGGATCTTAGTTACCTGTTCTTAAGAATATGAAGGGAAAGCTTCTCTTTCTTTTGAAGAATTTTGTCTTTCATTAAAGATATTTATTTCTTAGTGTAAAAGTAGAAATTCTTGTATTTCATTAAATATATTTATTTCTTAGTTTAAAAATAGAAATTATTTAGCAAAAATAAAATTCTGTGTTTTTTGTTCCTTGCATTCTGACATTAGATGAAAAATAAATGGACTCCTGACTTTTAATATTGACCTAGACTTACTTTCTTTTGCAGTAAAATTATTTGTAATATGTCTGACGTTACGTATTTTCCTCTATCTCTCTTACTTCGTAGTACTAAGAGCCTAGCTTGATTCTGATCTTAAGTAAACTTATCTTTACATTTGTGTCTTTGGGGGAGCCAGGTTGGATTGCCTCCTTTGGAGAAGTTTAATAACTGGGGTGGATCTCTGTCCCTGGGACACCCATTTGGAGCCACTGGCTGCAGGTTGGTCATGGCTGCTGCCAACAGATTACGGAAAGAAGGAGGCCAGTATGGCTTAGTGGCTGCGTGTGCAGCTGGAGGGCAGGTACGTTACAGTGGTGTCATAGGACCCTCCAGAGAGTCATTTTCTTGGAATGACTAGAATGTATGATTTAGTTTGAAACCTTCTTAAAGCAATATTTTTGATGACCTGGGGGTGGGGAGTGGGGAGGGATAACAGCTGTAATTCTGATAAAACTTTTTGTTTTTTGGGTTTTTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCACCCAGGTTGGAATGCAGTGGTAATATCTTAGCTCACTGCAACCTCCACTTCCCGGATTCAGGTGATTCTCGTGCCTCAGCCTCCCGAGCAGTTGAGATTACAGGTGTGCACCACCATGTCCAGTTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCGCCATGTTGGCCAGGCTAGTCTCGAATTGCCGACTTCAAGTGATCCACCCTCCTTGGCCTCCCAAAGTGCTGTGATTACAGGCATGAGCCACCATGCCCTGCCATAATTCTGATAATTCTTTGGAAGGAAACAGCTATTTAAACCCAAGCTATTTTTCCCCAATATAATGTTTATTTTTTACTTATAAATATATGCTGATTATGAAAATTGTGGAATATATGAAAAGTATATAGAAAAAGTTAGAATCATCTATAATCTCCCCATCAGACATTAACATTATTAACATCTTGATATATTTTCTTCTTTAATAATTAACTTTTATTTATCTAGTCACCATAAGACTTTATAAAATCTCTCCAAGAGAGAAACTATCTTTCTAGAGAACTGAATTATACCTTAACTGGGGAGTTAATTTACTTCTGGATAACTTACTGCTGTTCAGCTGGGGAAATATATTGTTGACAGATTTTTTCCTTTCTACTTCACTTGCATTAGAGACCCAACTTCCTGACTGCTGTAGCATCTCACTCTAGGAATAAAATCCAAAAGGAAGATTGTAGTTTGTTTTTTGTTTGTTTGTTTTTTGAGACAGAGTCTCACTCTGTCCCCCAGGCTGGAGTGCAGTGGTGCCACCTCGGCTCACTGCAACCTCTGCCTCGCGAGTTCAAGCGATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCTCACCACCAAGCCCGGGCAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTATTGGCCAGGCCGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCTGGCCTGTTTTTGTTTTTTTTTTTTTTTTTTAATCCCGATGTGAACAGATTTTCTCTTCCTCTAGATTACAGAAACTTCCTGTTCCTGATCAAAATGAATAAATATTTAAAAGCATAAACTGGCCGGGTGCAGTGGCTCACGCCT
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Task1_train_3187
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This gene mutation involves HADHB (hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta) on Chromosome 2. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Mitochondrial trifunctional protein deficiency
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GCAATGTTAATCATGGCGGAGGAAAAGGCTCTGGCCATGGGTTATAAGCCGAAGGCATATTTGAGGTAAAGTAAATGTTCAAACAAATCATCTCTGATTTCTTTATTTTATTACCAAAGCTCACCTCTCTATTTTTTTACCTAGGGATTTTATGTATGTGTCTCAGGATCCAAAAGATCAACTATTACTTGGGTAGGTAGCAGTTTGTATCCTTGGACTATAATCACAAGTATTTGATTGCCTATGTTTTATTATACTGGTTAATAAATGATTAACACTGGTTTATTATTTATTTGTTTATTACACTGGTTTGAGAGTATATTAAGCCCTGAGTTCATAATTGGTTTATGTGGTGGTTTTTTTAAAAAAAATAATAGTAATCTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGACCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAGCCCTATCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGTTTTGGCAAGAGAATGGCATGAACCCGAGAGGCAGAGCTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAATAAATAAATAAATAAAATAGTAGTAATCCTTTCCATTGGTATATCATGTTACAGTTTTGGATTATTTTCCATTTTTTTCCTATAAGTTTTACATATATATATGGACACACACAACTTATATTCTTTTTCATTAAGATAGCATATGCATTTTTTCATATGGCTACACACCCTGCTACACAATCTTCCTAATATAGCCTTTTATAAAAGCCTCCCCATGTTTAGACTCTGTTCCGTTCCCTCACAAGGCTGTAGCCTCTAGCCTCCACTGTGACGTTCACATCAGTCAAGCCCTTTCCCTTGCCTTGCTCTTTGAACTCTGTTCTTCCAGTTCTTCATGTTATTAGCTTGTCCTTATCCCTCACTGTTTATTTATTATCAATTTCTCTGACTCTGCAACATAAGAGTAGAGGGCATGTCTGTACAGTTTCACTATTTTATCTTTAACATTTCATTAATCAGTACAGAAAAATCAAAGAATGAGTGAAAAGACATTAGAGTACCTATGTAAAACTCAGTTTGGGGAATATGAAGGAGCTCTTAGTTTAAAAATTAAAGTTTTAAGATATTACTTATTTTTTCTTTGCAGACCAACATATGCTACTCCAAAAGTTCTAGAAAAGGCAGGATTGACCATGAATGATATTGATGCTTTTGAATTTCATGAAGCTTTCTCGGTAAGTAATTTGAAAGACACATATGAAGGGACTATAGTCATAAAAAATGTCATCCATATTTGTGGGAGAGAGCAAGGCATGGTTTATGATGTGAGTAGAGCAGGAGTGGACCTGCATATTTTAAGTACTGATTCACACTGCTGGGAGGGGCCCGAGGGGAGGGAAGCAAGGGCCACACATACAGTGTTGGAGAACATACCAAATTGCTTCTTTAGGAAATTGCCATTGAAAACTGATACAAAGATTTGTTCAACTTTACTTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTCTGTTGCCCCAGCTGGAGTGTAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTTCCAGGTTCAAGCAATTTTCTTGTCTCAGCCTCCCGAGTAGCTGGGACAAGCAGGCGCCTGCCACCATGCCCGACTAATTTTTTTTATATTTTTAATAGAGACAGGGTTTCACCATATTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACTGTGCCTGGCCGATTTGTTCAACTTTAAACCATACCTAAAGTTGTTAAACTTTCACAAACCATTCCTATAAGAAAGCGTAGAGGAACATGAATAACGAGGTTCTTATTCGATTATTTTCTCTTCCAGGGTCAGATTTTGGCAAATTTTAAAGCCATGGATTCTGATTGGTTTGCAGAAAACTACATGGGTAGAAAAACCAAGGTGAGTTTCTAATTTTAAAAAATGCGTGAATTTTCAAAGCACGTTAATAATTGGATCTTAGTTACCTGTTCTTAAGAATATGAAGGGAAAGCTTCTCTTTCTTTTGAAGAATTTTGTCTTTCATTAAAGATATTTATTTCTTAGTGTAAAAGTAGAAATTCTTGTATTTCATTAAATATATTTATTTCTTAGTTTAAAAATAGAAATTATTTAGCAAAAATAAAATTCTGTGTTTTTTGTTCCTTGCATTCTGACATTAGATGAAAAATAAATGGACTCCTGACTTTTAATATTGACCTAGACTTACTTTCTTTTGCAGTAAAATTATTTGTAATATGTCTGACGTTACGTATTTTCCTCTATCTCTCTTACTTCGTAGTACTAAGAGCCTAGCTTGATTCTGATCTTAAGTAAACTTATCTTTACATTTGTGTCTTTGGGGGAGCCAGGTTGGATTGCCTCCTTTGGAGAAGTTTAATAACTGGGGTGGATCTCTGTCCCTGGGACACCCATTTGGAGCCACTGGCTGCAGGTTGGTCATGGCTGCTGCCAACAGATTACGGAAAGAAGGAGGCCAGTATGGCTTAGTGGCTGCGTGTGCAGCTGGAGGGCAGGTACGTTACAGTGGTGTCATAGGACCCTCCAGAGAGTCATTTTCTTGGAATGACTAGAATGTATGATTTAGTTTGAAACCTTCTTAAAGCAATATTTTTGATGACCTGGGGGTGGGGAGTGGGGAGGGATAACAGCTGTAATTCTGATAAAACTTTTTGTTTTTTGGGTTTTTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCACCCAGGTTGGAATGCAGTGGTAATATCTTAGCTCACTGCAACCTCCACTTCCCGGATTCAGGTGATTCTCGTGCCTCAGCCTCCCGAGCAGTTGAGATTACAGGTGTGCACCACCATGTCCAGTTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCGCCATGTTGGCCAGGCTAGTCTCGAATTGCCGACTTCAAGTGATCCACCCTCCTTGGCCTCCCAAAGTGCTGTGATTACAGGCATGAGCCACCATGCCCTGCCATAATTCTGATAATTCTTTGGAAGGAAACAGCTATTTAAACCCAAGCTATTTTTCCCCAATATAATGTTTATTTTTTACTTATAAATATATGCTGATTATGAAAATTGTGGAATATATGAAAAGTATATAGAAAAAGTTAGAATCATCTATAATCTCCCCATCAGACATTAACATTATTAACATCTTGATATATTTTCTTCTTTAATAATTAACTTTTATTTATCTAGTCACCATAAGACTTTATAAAATCTCTCCAAGAGAGAAACTATCTTTCTAGAGAACTGAATTATACCTTAACTGGGGAGTTAATTTACTTCTGGATAACTTACTGCTGTTCAGCTGGGGAAATATATTGTTGACAGATTTTTTCCTTTCTACTTCACTTGCATTAGAGACCCAACTTCCTGACTGCTGTAGCATCTCACTCTAGGAATAAAATCCAAAAGGAAGATTGTAGTTTGTTTTTTGTTTGTTTGTTTTTTGAGACAGAGTCTCACTCTGTCCCCCAGGCTGGAGTGCAGTGGTGCCACCTCGGCTCACTGCAACCTCTGCCTCGCGAGTTCAAGCGATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCTCACCACCAAGCCCGGGCAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTATTGGCCAGGCCGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCTGGCCTGTTTTTGTTTTTTTTTTTTTTTTTTAATCCCGATGTGAACAGATTTTCTCTTCCTCTAGATTACAGAAACTTCCTGTTCCTGATCAAAATGAATAAATATTTAAAAGCATAAACTGGCCGGGTGCAGTGGCTCACGCCTGTAATCCCAA
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GCAATGTTAATCATGGCGGAGGAAAAGGCTCTGGCCATGGGTTATAAGCCGAAGGCATATTTGAGGTAAAGTAAATGTTCAAACAAATCATCTCTGATTTCTTTATTTTATTACCAAAGCTCACCTCTCTATTTTTTTACCTAGGGATTTTATGTATGTGTCTCAGGATCCAAAAGATCAACTATTACTTGGGTAGGTAGCAGTTTGTATCCTTGGACTATAATCACAAGTATTTGATTGCCTATGTTTTATTATACTGGTTAATAAATGATTAACACTGGTTTATTATTTATTTGTTTATTACACTGGTTTGAGAGTATATTAAGCCCTGAGTTCATAATTGGTTTATGTGGTGGTTTTTTTAAAAAAAATAATAGTAATCTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGACCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAGCCCTATCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGTTTTGGCAAGAGAATGGCATGAACCCGAGAGGCAGAGCTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAATAAATAAATAAATAAAATAGTAGTAATCCTTTCCATTGGTATATCATGTTACAGTTTTGGATTATTTTCCATTTTTTTCCTATAAGTTTTACATATATATATGGACACACACAACTTATATTCTTTTTCATTAAGATAGCATATGCATTTTTTCATATGGCTACACACCCTGCTACACAATCTTCCTAATATAGCCTTTTATAAAAGCCTCCCCATGTTTAGACTCTGTTCCGTTCCCTCACAAGGCTGTAGCCTCTAGCCTCCACTGTGACGTTCACATCAGTCAAGCCCTTTCCCTTGCCTTGCTCTTTGAACTCTGTTCTTCCAGTTCTTCATGTTATTAGCTTGTCCTTATCCCTCACTGTTTATTTATTATCAATTTCTCTGACTCTGCAACATAAGAGTAGAGGGCATGTCTGTACAGTTTCACTATTTTATCTTTAACATTTCATTAATCAGTACAGAAAAATCAAAGAATGAGTGAAAAGACATTAGAGTACCTATGTAAAACTCAGTTTGGGGAATATGAAGGAGCTCTTAGTTTAAAAATTAAAGTTTTAAGATATTACTTATTTTTTCTTTGCAGACCAACATATGCTACTCCAAAAGTTCTAGAAAAGGCAGGATTGACCATGAATGATATTGATGCTTTTGAATTTCATGAAGCTTTCTCGGTAAGTAATTTGAAAGACACATATGAAGGGACTATAGTCATAAAAAATGTCATCCATATTTGTGGGAGAGAGCAAGGCATGGTTTATGATGTGAGTAGAGCAGGAGTGGACCTGCATATTTTAAGTACTGATTCACACTGCTGGGAGGGGCCCGAGGGGAGGGAAGCAAGGGCCACACATACAGTGTTGGAGAACATACCAAATTGCTTCTTTAGGAAATTGCCATTGAAAACTGATACAAAGATTTGTTCAACTTTACTTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTCTGTTGCCCCAGCTGGAGTGTAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTTCCAGGTTCAAGCAATTTTCTTGTCTCAGCCTCCCGAGTAGCTGGGACAAGCAGGCGCCTGCCACCATGCCCGACTAATTTTTTTTATATTTTTAATAGAGACAGGGTTTCACCATATTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACTGTGCCTGGCCGATTTGTTCAACTTTAAACCATACCTAAAGTTGTTAAACTTTCACAAACCATTCCTATAAGAAAGCGTAGAGGAACATGAATAACGAGGTTCTTATTCGATTATTTTCTCTTCCAGGGTCAGATTTTGGCAAATTTTAAAGTCATGGATTCTGATTGGTTTGCAGAAAACTACATGGGTAGAAAAACCAAGGTGAGTTTCTAATTTTAAAAAATGCGTGAATTTTCAAAGCACGTTAATAATTGGATCTTAGTTACCTGTTCTTAAGAATATGAAGGGAAAGCTTCTCTTTCTTTTGAAGAATTTTGTCTTTCATTAAAGATATTTATTTCTTAGTGTAAAAGTAGAAATTCTTGTATTTCATTAAATATATTTATTTCTTAGTTTAAAAATAGAAATTATTTAGCAAAAATAAAATTCTGTGTTTTTTGTTCCTTGCATTCTGACATTAGATGAAAAATAAATGGACTCCTGACTTTTAATATTGACCTAGACTTACTTTCTTTTGCAGTAAAATTATTTGTAATATGTCTGACGTTACGTATTTTCCTCTATCTCTCTTACTTCGTAGTACTAAGAGCCTAGCTTGATTCTGATCTTAAGTAAACTTATCTTTACATTTGTGTCTTTGGGGGAGCCAGGTTGGATTGCCTCCTTTGGAGAAGTTTAATAACTGGGGTGGATCTCTGTCCCTGGGACACCCATTTGGAGCCACTGGCTGCAGGTTGGTCATGGCTGCTGCCAACAGATTACGGAAAGAAGGAGGCCAGTATGGCTTAGTGGCTGCGTGTGCAGCTGGAGGGCAGGTACGTTACAGTGGTGTCATAGGACCCTCCAGAGAGTCATTTTCTTGGAATGACTAGAATGTATGATTTAGTTTGAAACCTTCTTAAAGCAATATTTTTGATGACCTGGGGGTGGGGAGTGGGGAGGGATAACAGCTGTAATTCTGATAAAACTTTTTGTTTTTTGGGTTTTTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCACCCAGGTTGGAATGCAGTGGTAATATCTTAGCTCACTGCAACCTCCACTTCCCGGATTCAGGTGATTCTCGTGCCTCAGCCTCCCGAGCAGTTGAGATTACAGGTGTGCACCACCATGTCCAGTTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCGCCATGTTGGCCAGGCTAGTCTCGAATTGCCGACTTCAAGTGATCCACCCTCCTTGGCCTCCCAAAGTGCTGTGATTACAGGCATGAGCCACCATGCCCTGCCATAATTCTGATAATTCTTTGGAAGGAAACAGCTATTTAAACCCAAGCTATTTTTCCCCAATATAATGTTTATTTTTTACTTATAAATATATGCTGATTATGAAAATTGTGGAATATATGAAAAGTATATAGAAAAAGTTAGAATCATCTATAATCTCCCCATCAGACATTAACATTATTAACATCTTGATATATTTTCTTCTTTAATAATTAACTTTTATTTATCTAGTCACCATAAGACTTTATAAAATCTCTCCAAGAGAGAAACTATCTTTCTAGAGAACTGAATTATACCTTAACTGGGGAGTTAATTTACTTCTGGATAACTTACTGCTGTTCAGCTGGGGAAATATATTGTTGACAGATTTTTTCCTTTCTACTTCACTTGCATTAGAGACCCAACTTCCTGACTGCTGTAGCATCTCACTCTAGGAATAAAATCCAAAAGGAAGATTGTAGTTTGTTTTTTGTTTGTTTGTTTTTTGAGACAGAGTCTCACTCTGTCCCCCAGGCTGGAGTGCAGTGGTGCCACCTCGGCTCACTGCAACCTCTGCCTCGCGAGTTCAAGCGATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCTCACCACCAAGCCCGGGCAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTATTGGCCAGGCCGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCTGGCCTGTTTTTGTTTTTTTTTTTTTTTTTTAATCCCGATGTGAACAGATTTTCTCTTCCTCTAGATTACAGAAACTTCCTGTTCCTGATCAAAATGAATAAATATTTAAAAGCATAAACTGGCCGGGTGCAGTGGCTCACGCCTGTAATCCCAA
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Task1_train_3188
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A variant affecting Chromosome 2, within the gene HADHB (hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Mitochondrial trifunctional protein deficiency 2
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AGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAATAAATAAATAAATAAAATAGTAGTAATCCTTTCCATTGGTATATCATGTTACAGTTTTGGATTATTTTCCATTTTTTTCCTATAAGTTTTACATATATATATGGACACACACAACTTATATTCTTTTTCATTAAGATAGCATATGCATTTTTTCATATGGCTACACACCCTGCTACACAATCTTCCTAATATAGCCTTTTATAAAAGCCTCCCCATGTTTAGACTCTGTTCCGTTCCCTCACAAGGCTGTAGCCTCTAGCCTCCACTGTGACGTTCACATCAGTCAAGCCCTTTCCCTTGCCTTGCTCTTTGAACTCTGTTCTTCCAGTTCTTCATGTTATTAGCTTGTCCTTATCCCTCACTGTTTATTTATTATCAATTTCTCTGACTCTGCAACATAAGAGTAGAGGGCATGTCTGTACAGTTTCACTATTTTATCTTTAACATTTCATTAATCAGTACAGAAAAATCAAAGAATGAGTGAAAAGACATTAGAGTACCTATGTAAAACTCAGTTTGGGGAATATGAAGGAGCTCTTAGTTTAAAAATTAAAGTTTTAAGATATTACTTATTTTTTCTTTGCAGACCAACATATGCTACTCCAAAAGTTCTAGAAAAGGCAGGATTGACCATGAATGATATTGATGCTTTTGAATTTCATGAAGCTTTCTCGGTAAGTAATTTGAAAGACACATATGAAGGGACTATAGTCATAAAAAATGTCATCCATATTTGTGGGAGAGAGCAAGGCATGGTTTATGATGTGAGTAGAGCAGGAGTGGACCTGCATATTTTAAGTACTGATTCACACTGCTGGGAGGGGCCCGAGGGGAGGGAAGCAAGGGCCACACATACAGTGTTGGAGAACATACCAAATTGCTTCTTTAGGAAATTGCCATTGAAAACTGATACAAAGATTTGTTCAACTTTACTTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTCTGTTGCCCCAGCTGGAGTGTAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTTCCAGGTTCAAGCAATTTTCTTGTCTCAGCCTCCCGAGTAGCTGGGACAAGCAGGCGCCTGCCACCATGCCCGACTAATTTTTTTTATATTTTTAATAGAGACAGGGTTTCACCATATTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACTGTGCCTGGCCGATTTGTTCAACTTTAAACCATACCTAAAGTTGTTAAACTTTCACAAACCATTCCTATAAGAAAGCGTAGAGGAACATGAATAACGAGGTTCTTATTCGATTATTTTCTCTTCCAGGGTCAGATTTTGGCAAATTTTAAAGCCATGGATTCTGATTGGTTTGCAGAAAACTACATGGGTAGAAAAACCAAGGTGAGTTTCTAATTTTAAAAAATGCGTGAATTTTCAAAGCACGTTAATAATTGGATCTTAGTTACCTGTTCTTAAGAATATGAAGGGAAAGCTTCTCTTTCTTTTGAAGAATTTTGTCTTTCATTAAAGATATTTATTTCTTAGTGTAAAAGTAGAAATTCTTGTATTTCATTAAATATATTTATTTCTTAGTTTAAAAATAGAAATTATTTAGCAAAAATAAAATTCTGTGTTTTTTGTTCCTTGCATTCTGACATTAGATGAAAAATAAATGGACTCCTGACTTTTAATATTGACCTAGACTTACTTTCTTTTGCAGTAAAATTATTTGTAATATGTCTGACGTTACGTATTTTCCTCTATCTCTCTTACTTCGTAGTACTAAGAGCCTAGCTTGATTCTGATCTTAAGTAAACTTATCTTTACATTTGTGTCTTTGGGGGAGCCAGGTTGGATTGCCTCCTTTGGAGAAGTTTAATAACTGGGGTGGATCTCTGTCCCTGGGACACCCATTTGGAGCCACTGGCTGCAGGTTGGTCATGGCTGCTGCCAACAGATTACGGAAAGAAGGAGGCCAGTATGGCTTAGTGGCTGCGTGTGCAGCTGGAGGGCAGGTACGTTACAGTGGTGTCATAGGACCCTCCAGAGAGTCATTTTCTTGGAATGACTAGAATGTATGATTTAGTTTGAAACCTTCTTAAAGCAATATTTTTGATGACCTGGGGGTGGGGAGTGGGGAGGGATAACAGCTGTAATTCTGATAAAACTTTTTGTTTTTTGGGTTTTTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCACCCAGGTTGGAATGCAGTGGTAATATCTTAGCTCACTGCAACCTCCACTTCCCGGATTCAGGTGATTCTCGTGCCTCAGCCTCCCGAGCAGTTGAGATTACAGGTGTGCACCACCATGTCCAGTTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCGCCATGTTGGCCAGGCTAGTCTCGAATTGCCGACTTCAAGTGATCCACCCTCCTTGGCCTCCCAAAGTGCTGTGATTACAGGCATGAGCCACCATGCCCTGCCATAATTCTGATAATTCTTTGGAAGGAAACAGCTATTTAAACCCAAGCTATTTTTCCCCAATATAATGTTTATTTTTTACTTATAAATATATGCTGATTATGAAAATTGTGGAATATATGAAAAGTATATAGAAAAAGTTAGAATCATCTATAATCTCCCCATCAGACATTAACATTATTAACATCTTGATATATTTTCTTCTTTAATAATTAACTTTTATTTATCTAGTCACCATAAGACTTTATAAAATCTCTCCAAGAGAGAAACTATCTTTCTAGAGAACTGAATTATACCTTAACTGGGGAGTTAATTTACTTCTGGATAACTTACTGCTGTTCAGCTGGGGAAATATATTGTTGACAGATTTTTTCCTTTCTACTTCACTTGCATTAGAGACCCAACTTCCTGACTGCTGTAGCATCTCACTCTAGGAATAAAATCCAAAAGGAAGATTGTAGTTTGTTTTTTGTTTGTTTGTTTTTTGAGACAGAGTCTCACTCTGTCCCCCAGGCTGGAGTGCAGTGGTGCCACCTCGGCTCACTGCAACCTCTGCCTCGCGAGTTCAAGCGATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCTCACCACCAAGCCCGGGCAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTATTGGCCAGGCCGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCTGGCCTGTTTTTGTTTTTTTTTTTTTTTTTTAATCCCGATGTGAACAGATTTTCTCTTCCTCTAGATTACAGAAACTTCCTGTTCCTGATCAAAATGAATAAATATTTAAAAGCATAAACTGGCCGGGTGCAGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGTTGAGGCGGGTAGGTCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCTTGTCTCTACTAAAATTATAAAAACTAGCCTAGTGTGGTGGTGTGCGCCTGTAATTCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGCGCCATTGCACTCCAGCCTGGTGACAGAGAGAGACTCTGTCTCAAAAATAAAGTAAATGAAATAAATCTTACGTTTAAAAGCCCTTTTTCATGGATTTTCCTCAGAGACTTTGCAGAAACCAAGGGGTCAGTTATTTATCAGTTGGAACATTTTGGACTTTATGATCACAAATGCTTTTTAATCTGTGTAACTTCATCTACAGAAAACCATGGTCCATTAAGACTAGAGCGATCCCTCTATCTCTTCATGCCAGGCTTCTACCAGGGAGATAACCTGTACACATTACTCACGAGCATAGTGCGTAATCCACATAGGGTAATGTCTGCAGATTTGAGTATGTGTTCCCTAATTCTTTATCTAGCATGTAGAGTATAAATAACACAATACTGGATGCTTTTAT
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AGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAATAAATAAATAAATAAAATAGTAGTAATCCTTTCCATTGGTATATCATGTTACAGTTTTGGATTATTTTCCATTTTTTTCCTATAAGTTTTACATATATATATGGACACACACAACTTATATTCTTTTTCATTAAGATAGCATATGCATTTTTTCATATGGCTACACACCCTGCTACACAATCTTCCTAATATAGCCTTTTATAAAAGCCTCCCCATGTTTAGACTCTGTTCCGTTCCCTCACAAGGCTGTAGCCTCTAGCCTCCACTGTGACGTTCACATCAGTCAAGCCCTTTCCCTTGCCTTGCTCTTTGAACTCTGTTCTTCCAGTTCTTCATGTTATTAGCTTGTCCTTATCCCTCACTGTTTATTTATTATCAATTTCTCTGACTCTGCAACATAAGAGTAGAGGGCATGTCTGTACAGTTTCACTATTTTATCTTTAACATTTCATTAATCAGTACAGAAAAATCAAAGAATGAGTGAAAAGACATTAGAGTACCTATGTAAAACTCAGTTTGGGGAATATGAAGGAGCTCTTAGTTTAAAAATTAAAGTTTTAAGATATTACTTATTTTTTCTTTGCAGACCAACATATGCTACTCCAAAAGTTCTAGAAAAGGCAGGATTGACCATGAATGATATTGATGCTTTTGAATTTCATGAAGCTTTCTCGGTAAGTAATTTGAAAGACACATATGAAGGGACTATAGTCATAAAAAATGTCATCCATATTTGTGGGAGAGAGCAAGGCATGGTTTATGATGTGAGTAGAGCAGGAGTGGACCTGCATATTTTAAGTACTGATTCACACTGCTGGGAGGGGCCCGAGGGGAGGGAAGCAAGGGCCACACATACAGTGTTGGAGAACATACCAAATTGCTTCTTTAGGAAATTGCCATTGAAAACTGATACAAAGATTTGTTCAACTTTACTTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTCTGTTGCCCCAGCTGGAGTGTAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTTCCAGGTTCAAGCAATTTTCTTGTCTCAGCCTCCCGAGTAGCTGGGACAAGCAGGCGCCTGCCACCATGCCCGACTAATTTTTTTTATATTTTTAATAGAGACAGGGTTTCACCATATTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACTGTGCCTGGCCGATTTGTTCAACTTTAAACCATACCTAAAGTTGTTAAACTTTCACAAACCATTCCTATAAGAAAGCGTAGAGGAACATGAATAACGAGGTTCTTATTCGATTATTTTCTCTTCCAGGGTCAGATTTTGGCAAATTTTAAAGCCATGGATTCTGATTGGTTTGCAGAAAACTACATGGGTAGAAAAACCAAGGTGAGTTTCTAATTTTAAAAAATGCGTGAATTTTCAAAGCACGTTAATAATTGGATCTTAGTTACCTGTTCTTAAGAATATGAAGGGAAAGCTTCTCTTTCTTTTGAAGAATTTTGTCTTTCATTAAAGATATTTATTTCTTAGTGTAAAAGTAGAAATTCTTGTATTTCATTAAATATATTTATTTCTTAGTTTAAAAATAGAAATTATTTAGCAAAAATAAAATTCTGTGTTTTTTGTTCCTTGCATTCTGACATTAGATGAAAAATAAATGGACTCCTGACTTTTAATATTGACCTAGACTTACTTTCTTTTGCAGTAAAATTATTTGTAATATGTCTGACGTTACGTATTTTCCTCTATCTCTCTTACTTCGTAGTACTAAGAGCCTAGCTTGATTCTGATCTTAAGTAAACTTATCTTTACATTTGTGTCTTTGGGGGAGCCAGGTTGGATTGCCTCCTTTGGAGAAGTTTAATAACTGGGGTGGATCTCTGTCCCTGGGACACCCATTTGGAGCCACTGGCTGCAGGTTGGTCATGGCTGCTGCCAACAAATTACGGAAAGAAGGAGGCCAGTATGGCTTAGTGGCTGCGTGTGCAGCTGGAGGGCAGGTACGTTACAGTGGTGTCATAGGACCCTCCAGAGAGTCATTTTCTTGGAATGACTAGAATGTATGATTTAGTTTGAAACCTTCTTAAAGCAATATTTTTGATGACCTGGGGGTGGGGAGTGGGGAGGGATAACAGCTGTAATTCTGATAAAACTTTTTGTTTTTTGGGTTTTTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCACCCAGGTTGGAATGCAGTGGTAATATCTTAGCTCACTGCAACCTCCACTTCCCGGATTCAGGTGATTCTCGTGCCTCAGCCTCCCGAGCAGTTGAGATTACAGGTGTGCACCACCATGTCCAGTTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCGCCATGTTGGCCAGGCTAGTCTCGAATTGCCGACTTCAAGTGATCCACCCTCCTTGGCCTCCCAAAGTGCTGTGATTACAGGCATGAGCCACCATGCCCTGCCATAATTCTGATAATTCTTTGGAAGGAAACAGCTATTTAAACCCAAGCTATTTTTCCCCAATATAATGTTTATTTTTTACTTATAAATATATGCTGATTATGAAAATTGTGGAATATATGAAAAGTATATAGAAAAAGTTAGAATCATCTATAATCTCCCCATCAGACATTAACATTATTAACATCTTGATATATTTTCTTCTTTAATAATTAACTTTTATTTATCTAGTCACCATAAGACTTTATAAAATCTCTCCAAGAGAGAAACTATCTTTCTAGAGAACTGAATTATACCTTAACTGGGGAGTTAATTTACTTCTGGATAACTTACTGCTGTTCAGCTGGGGAAATATATTGTTGACAGATTTTTTCCTTTCTACTTCACTTGCATTAGAGACCCAACTTCCTGACTGCTGTAGCATCTCACTCTAGGAATAAAATCCAAAAGGAAGATTGTAGTTTGTTTTTTGTTTGTTTGTTTTTTGAGACAGAGTCTCACTCTGTCCCCCAGGCTGGAGTGCAGTGGTGCCACCTCGGCTCACTGCAACCTCTGCCTCGCGAGTTCAAGCGATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCTCACCACCAAGCCCGGGCAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTATTGGCCAGGCCGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCTGGCCTGTTTTTGTTTTTTTTTTTTTTTTTTAATCCCGATGTGAACAGATTTTCTCTTCCTCTAGATTACAGAAACTTCCTGTTCCTGATCAAAATGAATAAATATTTAAAAGCATAAACTGGCCGGGTGCAGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGTTGAGGCGGGTAGGTCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCTTGTCTCTACTAAAATTATAAAAACTAGCCTAGTGTGGTGGTGTGCGCCTGTAATTCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGCGCCATTGCACTCCAGCCTGGTGACAGAGAGAGACTCTGTCTCAAAAATAAAGTAAATGAAATAAATCTTACGTTTAAAAGCCCTTTTTCATGGATTTTCCTCAGAGACTTTGCAGAAACCAAGGGGTCAGTTATTTATCAGTTGGAACATTTTGGACTTTATGATCACAAATGCTTTTTAATCTGTGTAACTTCATCTACAGAAAACCATGGTCCATTAAGACTAGAGCGATCCCTCTATCTCTTCATGCCAGGCTTCTACCAGGGAGATAACCTGTACACATTACTCACGAGCATAGTGCGTAATCCACATAGGGTAATGTCTGCAGATTTGAGTATGTGTTCCCTAATTCTTTATCTAGCATGTAGAGTATAAATAACACAATACTGGATGCTTTTAT
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Task1_train_3189
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Gene HADHB (hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Mitochondrial trifunctional protein deficiency 2
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TGGGCGACAGAGCGAGACTCCATCTCAAAAAAATAAATAAATAAATAAAATAGTAGTAATCCTTTCCATTGGTATATCATGTTACAGTTTTGGATTATTTTCCATTTTTTTCCTATAAGTTTTACATATATATATGGACACACACAACTTATATTCTTTTTCATTAAGATAGCATATGCATTTTTTCATATGGCTACACACCCTGCTACACAATCTTCCTAATATAGCCTTTTATAAAAGCCTCCCCATGTTTAGACTCTGTTCCGTTCCCTCACAAGGCTGTAGCCTCTAGCCTCCACTGTGACGTTCACATCAGTCAAGCCCTTTCCCTTGCCTTGCTCTTTGAACTCTGTTCTTCCAGTTCTTCATGTTATTAGCTTGTCCTTATCCCTCACTGTTTATTTATTATCAATTTCTCTGACTCTGCAACATAAGAGTAGAGGGCATGTCTGTACAGTTTCACTATTTTATCTTTAACATTTCATTAATCAGTACAGAAAAATCAAAGAATGAGTGAAAAGACATTAGAGTACCTATGTAAAACTCAGTTTGGGGAATATGAAGGAGCTCTTAGTTTAAAAATTAAAGTTTTAAGATATTACTTATTTTTTCTTTGCAGACCAACATATGCTACTCCAAAAGTTCTAGAAAAGGCAGGATTGACCATGAATGATATTGATGCTTTTGAATTTCATGAAGCTTTCTCGGTAAGTAATTTGAAAGACACATATGAAGGGACTATAGTCATAAAAAATGTCATCCATATTTGTGGGAGAGAGCAAGGCATGGTTTATGATGTGAGTAGAGCAGGAGTGGACCTGCATATTTTAAGTACTGATTCACACTGCTGGGAGGGGCCCGAGGGGAGGGAAGCAAGGGCCACACATACAGTGTTGGAGAACATACCAAATTGCTTCTTTAGGAAATTGCCATTGAAAACTGATACAAAGATTTGTTCAACTTTACTTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTCTGTTGCCCCAGCTGGAGTGTAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTTCCAGGTTCAAGCAATTTTCTTGTCTCAGCCTCCCGAGTAGCTGGGACAAGCAGGCGCCTGCCACCATGCCCGACTAATTTTTTTTATATTTTTAATAGAGACAGGGTTTCACCATATTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACTGTGCCTGGCCGATTTGTTCAACTTTAAACCATACCTAAAGTTGTTAAACTTTCACAAACCATTCCTATAAGAAAGCGTAGAGGAACATGAATAACGAGGTTCTTATTCGATTATTTTCTCTTCCAGGGTCAGATTTTGGCAAATTTTAAAGCCATGGATTCTGATTGGTTTGCAGAAAACTACATGGGTAGAAAAACCAAGGTGAGTTTCTAATTTTAAAAAATGCGTGAATTTTCAAAGCACGTTAATAATTGGATCTTAGTTACCTGTTCTTAAGAATATGAAGGGAAAGCTTCTCTTTCTTTTGAAGAATTTTGTCTTTCATTAAAGATATTTATTTCTTAGTGTAAAAGTAGAAATTCTTGTATTTCATTAAATATATTTATTTCTTAGTTTAAAAATAGAAATTATTTAGCAAAAATAAAATTCTGTGTTTTTTGTTCCTTGCATTCTGACATTAGATGAAAAATAAATGGACTCCTGACTTTTAATATTGACCTAGACTTACTTTCTTTTGCAGTAAAATTATTTGTAATATGTCTGACGTTACGTATTTTCCTCTATCTCTCTTACTTCGTAGTACTAAGAGCCTAGCTTGATTCTGATCTTAAGTAAACTTATCTTTACATTTGTGTCTTTGGGGGAGCCAGGTTGGATTGCCTCCTTTGGAGAAGTTTAATAACTGGGGTGGATCTCTGTCCCTGGGACACCCATTTGGAGCCACTGGCTGCAGGTTGGTCATGGCTGCTGCCAACAGATTACGGAAAGAAGGAGGCCAGTATGGCTTAGTGGCTGCGTGTGCAGCTGGAGGGCAGGTACGTTACAGTGGTGTCATAGGACCCTCCAGAGAGTCATTTTCTTGGAATGACTAGAATGTATGATTTAGTTTGAAACCTTCTTAAAGCAATATTTTTGATGACCTGGGGGTGGGGAGTGGGGAGGGATAACAGCTGTAATTCTGATAAAACTTTTTGTTTTTTGGGTTTTTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCACCCAGGTTGGAATGCAGTGGTAATATCTTAGCTCACTGCAACCTCCACTTCCCGGATTCAGGTGATTCTCGTGCCTCAGCCTCCCGAGCAGTTGAGATTACAGGTGTGCACCACCATGTCCAGTTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCGCCATGTTGGCCAGGCTAGTCTCGAATTGCCGACTTCAAGTGATCCACCCTCCTTGGCCTCCCAAAGTGCTGTGATTACAGGCATGAGCCACCATGCCCTGCCATAATTCTGATAATTCTTTGGAAGGAAACAGCTATTTAAACCCAAGCTATTTTTCCCCAATATAATGTTTATTTTTTACTTATAAATATATGCTGATTATGAAAATTGTGGAATATATGAAAAGTATATAGAAAAAGTTAGAATCATCTATAATCTCCCCATCAGACATTAACATTATTAACATCTTGATATATTTTCTTCTTTAATAATTAACTTTTATTTATCTAGTCACCATAAGACTTTATAAAATCTCTCCAAGAGAGAAACTATCTTTCTAGAGAACTGAATTATACCTTAACTGGGGAGTTAATTTACTTCTGGATAACTTACTGCTGTTCAGCTGGGGAAATATATTGTTGACAGATTTTTTCCTTTCTACTTCACTTGCATTAGAGACCCAACTTCCTGACTGCTGTAGCATCTCACTCTAGGAATAAAATCCAAAAGGAAGATTGTAGTTTGTTTTTTGTTTGTTTGTTTTTTGAGACAGAGTCTCACTCTGTCCCCCAGGCTGGAGTGCAGTGGTGCCACCTCGGCTCACTGCAACCTCTGCCTCGCGAGTTCAAGCGATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCTCACCACCAAGCCCGGGCAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTATTGGCCAGGCCGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCTGGCCTGTTTTTGTTTTTTTTTTTTTTTTTTAATCCCGATGTGAACAGATTTTCTCTTCCTCTAGATTACAGAAACTTCCTGTTCCTGATCAAAATGAATAAATATTTAAAAGCATAAACTGGCCGGGTGCAGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGTTGAGGCGGGTAGGTCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCTTGTCTCTACTAAAATTATAAAAACTAGCCTAGTGTGGTGGTGTGCGCCTGTAATTCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGCGCCATTGCACTCCAGCCTGGTGACAGAGAGAGACTCTGTCTCAAAAATAAAGTAAATGAAATAAATCTTACGTTTAAAAGCCCTTTTTCATGGATTTTCCTCAGAGACTTTGCAGAAACCAAGGGGTCAGTTATTTATCAGTTGGAACATTTTGGACTTTATGATCACAAATGCTTTTTAATCTGTGTAACTTCATCTACAGAAAACCATGGTCCATTAAGACTAGAGCGATCCCTCTATCTCTTCATGCCAGGCTTCTACCAGGGAGATAACCTGTACACATTACTCACGAGCATAGTGCGTAATCCACATAGGGTAATGTCTGCAGATTTGAGTATGTGTTCCCTAATTCTTTATCTAGCATGTAGAGTATAAATAACACAATACTGGATGCTTTTATGGATGAACAAGGAATAATACCTAGCACCTTTCT
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TGGGCGACAGAGCGAGACTCCATCTCAAAAAAATAAATAAATAAATAAAATAGTAGTAATCCTTTCCATTGGTATATCATGTTACAGTTTTGGATTATTTTCCATTTTTTTCCTATAAGTTTTACATATATATATGGACACACACAACTTATATTCTTTTTCATTAAGATAGCATATGCATTTTTTCATATGGCTACACACCCTGCTACACAATCTTCCTAATATAGCCTTTTATAAAAGCCTCCCCATGTTTAGACTCTGTTCCGTTCCCTCACAAGGCTGTAGCCTCTAGCCTCCACTGTGACGTTCACATCAGTCAAGCCCTTTCCCTTGCCTTGCTCTTTGAACTCTGTTCTTCCAGTTCTTCATGTTATTAGCTTGTCCTTATCCCTCACTGTTTATTTATTATCAATTTCTCTGACTCTGCAACATAAGAGTAGAGGGCATGTCTGTACAGTTTCACTATTTTATCTTTAACATTTCATTAATCAGTACAGAAAAATCAAAGAATGAGTGAAAAGACATTAGAGTACCTATGTAAAACTCAGTTTGGGGAATATGAAGGAGCTCTTAGTTTAAAAATTAAAGTTTTAAGATATTACTTATTTTTTCTTTGCAGACCAACATATGCTACTCCAAAAGTTCTAGAAAAGGCAGGATTGACCATGAATGATATTGATGCTTTTGAATTTCATGAAGCTTTCTCGGTAAGTAATTTGAAAGACACATATGAAGGGACTATAGTCATAAAAAATGTCATCCATATTTGTGGGAGAGAGCAAGGCATGGTTTATGATGTGAGTAGAGCAGGAGTGGACCTGCATATTTTAAGTACTGATTCACACTGCTGGGAGGGGCCCGAGGGGAGGGAAGCAAGGGCCACACATACAGTGTTGGAGAACATACCAAATTGCTTCTTTAGGAAATTGCCATTGAAAACTGATACAAAGATTTGTTCAACTTTACTTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTCTGTTGCCCCAGCTGGAGTGTAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTTCCAGGTTCAAGCAATTTTCTTGTCTCAGCCTCCCGAGTAGCTGGGACAAGCAGGCGCCTGCCACCATGCCCGACTAATTTTTTTTATATTTTTAATAGAGACAGGGTTTCACCATATTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACTGTGCCTGGCCGATTTGTTCAACTTTAAACCATACCTAAAGTTGTTAAACTTTCACAAACCATTCCTATAAGAAAGCGTAGAGGAACATGAATAACGAGGTTCTTATTCGATTATTTTCTCTTCCAGGGTCAGATTTTGGCAAATTTTAAAGCCATGGATTCTGATTGGTTTGCAGAAAACTACATGGGTAGAAAAACCAAGGTGAGTTTCTAATTTTAAAAAATGCGTGAATTTTCAAAGCACGTTAATAATTGGATCTTAGTTACCTGTTCTTAAGAATATGAAGGGAAAGCTTCTCTTTCTTTTGAAGAATTTTGTCTTTCATTAAAGATATTTATTTCTTAGTGTAAAAGTAGAAATTCTTGTATTTCATTAAATATATTTATTTCTTAGTTTAAAAATAGAAATTATTTAGCAAAAATAAAATTCTGTGTTTTTTGTTCCTTGCATTCTGACATTAGATGAAAAATAAATGGACTCCTGACTTTTAATATTGACCTAGACTTACTTTCTTTTGCAGTAAAATTATTTGTAATATGTCTGACGTTACGTATTTTCCTCTATCTCTCTTACTTCGTAGTACTAAGAGCCTAGCTTGATTCTGATCTTAAGTAAACTTATCTTTACATTTGTGTCTTTGGGGGAGCCAGGTTGGATTGCCTCCTTTGGAGAAGTTTAATAACTGGGGTGGATCTCTGTCCCTGGGACACCCATTTGGAGCCACTGGCTGCAGGTTGGTCATGGCTGCTGCCAACAGATTACGGAAAGAAGGAGGCCAGTATGGCTTAGGGGCTGCGTGTGCAGCTGGAGGGCAGGTACGTTACAGTGGTGTCATAGGACCCTCCAGAGAGTCATTTTCTTGGAATGACTAGAATGTATGATTTAGTTTGAAACCTTCTTAAAGCAATATTTTTGATGACCTGGGGGTGGGGAGTGGGGAGGGATAACAGCTGTAATTCTGATAAAACTTTTTGTTTTTTGGGTTTTTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCACCCAGGTTGGAATGCAGTGGTAATATCTTAGCTCACTGCAACCTCCACTTCCCGGATTCAGGTGATTCTCGTGCCTCAGCCTCCCGAGCAGTTGAGATTACAGGTGTGCACCACCATGTCCAGTTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCGCCATGTTGGCCAGGCTAGTCTCGAATTGCCGACTTCAAGTGATCCACCCTCCTTGGCCTCCCAAAGTGCTGTGATTACAGGCATGAGCCACCATGCCCTGCCATAATTCTGATAATTCTTTGGAAGGAAACAGCTATTTAAACCCAAGCTATTTTTCCCCAATATAATGTTTATTTTTTACTTATAAATATATGCTGATTATGAAAATTGTGGAATATATGAAAAGTATATAGAAAAAGTTAGAATCATCTATAATCTCCCCATCAGACATTAACATTATTAACATCTTGATATATTTTCTTCTTTAATAATTAACTTTTATTTATCTAGTCACCATAAGACTTTATAAAATCTCTCCAAGAGAGAAACTATCTTTCTAGAGAACTGAATTATACCTTAACTGGGGAGTTAATTTACTTCTGGATAACTTACTGCTGTTCAGCTGGGGAAATATATTGTTGACAGATTTTTTCCTTTCTACTTCACTTGCATTAGAGACCCAACTTCCTGACTGCTGTAGCATCTCACTCTAGGAATAAAATCCAAAAGGAAGATTGTAGTTTGTTTTTTGTTTGTTTGTTTTTTGAGACAGAGTCTCACTCTGTCCCCCAGGCTGGAGTGCAGTGGTGCCACCTCGGCTCACTGCAACCTCTGCCTCGCGAGTTCAAGCGATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCTCACCACCAAGCCCGGGCAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTATTGGCCAGGCCGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCTGGCCTGTTTTTGTTTTTTTTTTTTTTTTTTAATCCCGATGTGAACAGATTTTCTCTTCCTCTAGATTACAGAAACTTCCTGTTCCTGATCAAAATGAATAAATATTTAAAAGCATAAACTGGCCGGGTGCAGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGTTGAGGCGGGTAGGTCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCTTGTCTCTACTAAAATTATAAAAACTAGCCTAGTGTGGTGGTGTGCGCCTGTAATTCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGCGCCATTGCACTCCAGCCTGGTGACAGAGAGAGACTCTGTCTCAAAAATAAAGTAAATGAAATAAATCTTACGTTTAAAAGCCCTTTTTCATGGATTTTCCTCAGAGACTTTGCAGAAACCAAGGGGTCAGTTATTTATCAGTTGGAACATTTTGGACTTTATGATCACAAATGCTTTTTAATCTGTGTAACTTCATCTACAGAAAACCATGGTCCATTAAGACTAGAGCGATCCCTCTATCTCTTCATGCCAGGCTTCTACCAGGGAGATAACCTGTACACATTACTCACGAGCATAGTGCGTAATCCACATAGGGTAATGTCTGCAGATTTGAGTATGTGTTCCCTAATTCTTTATCTAGCATGTAGAGTATAAATAACACAATACTGGATGCTTTTATGGATGAACAAGGAATAATACCTAGCACCTTTCT
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Task1_train_3190
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Assess the clinical impact of this variant on gene HADHB (hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta), found on Chromosome 2. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Mitochondrial trifunctional protein deficiency
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TGGGCGACAGAGCGAGACTCCATCTCAAAAAAATAAATAAATAAATAAAATAGTAGTAATCCTTTCCATTGGTATATCATGTTACAGTTTTGGATTATTTTCCATTTTTTTCCTATAAGTTTTACATATATATATGGACACACACAACTTATATTCTTTTTCATTAAGATAGCATATGCATTTTTTCATATGGCTACACACCCTGCTACACAATCTTCCTAATATAGCCTTTTATAAAAGCCTCCCCATGTTTAGACTCTGTTCCGTTCCCTCACAAGGCTGTAGCCTCTAGCCTCCACTGTGACGTTCACATCAGTCAAGCCCTTTCCCTTGCCTTGCTCTTTGAACTCTGTTCTTCCAGTTCTTCATGTTATTAGCTTGTCCTTATCCCTCACTGTTTATTTATTATCAATTTCTCTGACTCTGCAACATAAGAGTAGAGGGCATGTCTGTACAGTTTCACTATTTTATCTTTAACATTTCATTAATCAGTACAGAAAAATCAAAGAATGAGTGAAAAGACATTAGAGTACCTATGTAAAACTCAGTTTGGGGAATATGAAGGAGCTCTTAGTTTAAAAATTAAAGTTTTAAGATATTACTTATTTTTTCTTTGCAGACCAACATATGCTACTCCAAAAGTTCTAGAAAAGGCAGGATTGACCATGAATGATATTGATGCTTTTGAATTTCATGAAGCTTTCTCGGTAAGTAATTTGAAAGACACATATGAAGGGACTATAGTCATAAAAAATGTCATCCATATTTGTGGGAGAGAGCAAGGCATGGTTTATGATGTGAGTAGAGCAGGAGTGGACCTGCATATTTTAAGTACTGATTCACACTGCTGGGAGGGGCCCGAGGGGAGGGAAGCAAGGGCCACACATACAGTGTTGGAGAACATACCAAATTGCTTCTTTAGGAAATTGCCATTGAAAACTGATACAAAGATTTGTTCAACTTTACTTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTCTGTTGCCCCAGCTGGAGTGTAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTTCCAGGTTCAAGCAATTTTCTTGTCTCAGCCTCCCGAGTAGCTGGGACAAGCAGGCGCCTGCCACCATGCCCGACTAATTTTTTTTATATTTTTAATAGAGACAGGGTTTCACCATATTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACTGTGCCTGGCCGATTTGTTCAACTTTAAACCATACCTAAAGTTGTTAAACTTTCACAAACCATTCCTATAAGAAAGCGTAGAGGAACATGAATAACGAGGTTCTTATTCGATTATTTTCTCTTCCAGGGTCAGATTTTGGCAAATTTTAAAGCCATGGATTCTGATTGGTTTGCAGAAAACTACATGGGTAGAAAAACCAAGGTGAGTTTCTAATTTTAAAAAATGCGTGAATTTTCAAAGCACGTTAATAATTGGATCTTAGTTACCTGTTCTTAAGAATATGAAGGGAAAGCTTCTCTTTCTTTTGAAGAATTTTGTCTTTCATTAAAGATATTTATTTCTTAGTGTAAAAGTAGAAATTCTTGTATTTCATTAAATATATTTATTTCTTAGTTTAAAAATAGAAATTATTTAGCAAAAATAAAATTCTGTGTTTTTTGTTCCTTGCATTCTGACATTAGATGAAAAATAAATGGACTCCTGACTTTTAATATTGACCTAGACTTACTTTCTTTTGCAGTAAAATTATTTGTAATATGTCTGACGTTACGTATTTTCCTCTATCTCTCTTACTTCGTAGTACTAAGAGCCTAGCTTGATTCTGATCTTAAGTAAACTTATCTTTACATTTGTGTCTTTGGGGGAGCCAGGTTGGATTGCCTCCTTTGGAGAAGTTTAATAACTGGGGTGGATCTCTGTCCCTGGGACACCCATTTGGAGCCACTGGCTGCAGGTTGGTCATGGCTGCTGCCAACAGATTACGGAAAGAAGGAGGCCAGTATGGCTTAGTGGCTGCGTGTGCAGCTGGAGGGCAGGTACGTTACAGTGGTGTCATAGGACCCTCCAGAGAGTCATTTTCTTGGAATGACTAGAATGTATGATTTAGTTTGAAACCTTCTTAAAGCAATATTTTTGATGACCTGGGGGTGGGGAGTGGGGAGGGATAACAGCTGTAATTCTGATAAAACTTTTTGTTTTTTGGGTTTTTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCACCCAGGTTGGAATGCAGTGGTAATATCTTAGCTCACTGCAACCTCCACTTCCCGGATTCAGGTGATTCTCGTGCCTCAGCCTCCCGAGCAGTTGAGATTACAGGTGTGCACCACCATGTCCAGTTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCGCCATGTTGGCCAGGCTAGTCTCGAATTGCCGACTTCAAGTGATCCACCCTCCTTGGCCTCCCAAAGTGCTGTGATTACAGGCATGAGCCACCATGCCCTGCCATAATTCTGATAATTCTTTGGAAGGAAACAGCTATTTAAACCCAAGCTATTTTTCCCCAATATAATGTTTATTTTTTACTTATAAATATATGCTGATTATGAAAATTGTGGAATATATGAAAAGTATATAGAAAAAGTTAGAATCATCTATAATCTCCCCATCAGACATTAACATTATTAACATCTTGATATATTTTCTTCTTTAATAATTAACTTTTATTTATCTAGTCACCATAAGACTTTATAAAATCTCTCCAAGAGAGAAACTATCTTTCTAGAGAACTGAATTATACCTTAACTGGGGAGTTAATTTACTTCTGGATAACTTACTGCTGTTCAGCTGGGGAAATATATTGTTGACAGATTTTTTCCTTTCTACTTCACTTGCATTAGAGACCCAACTTCCTGACTGCTGTAGCATCTCACTCTAGGAATAAAATCCAAAAGGAAGATTGTAGTTTGTTTTTTGTTTGTTTGTTTTTTGAGACAGAGTCTCACTCTGTCCCCCAGGCTGGAGTGCAGTGGTGCCACCTCGGCTCACTGCAACCTCTGCCTCGCGAGTTCAAGCGATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCTCACCACCAAGCCCGGGCAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTATTGGCCAGGCCGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCTGGCCTGTTTTTGTTTTTTTTTTTTTTTTTTAATCCCGATGTGAACAGATTTTCTCTTCCTCTAGATTACAGAAACTTCCTGTTCCTGATCAAAATGAATAAATATTTAAAAGCATAAACTGGCCGGGTGCAGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGTTGAGGCGGGTAGGTCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCTTGTCTCTACTAAAATTATAAAAACTAGCCTAGTGTGGTGGTGTGCGCCTGTAATTCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGCGCCATTGCACTCCAGCCTGGTGACAGAGAGAGACTCTGTCTCAAAAATAAAGTAAATGAAATAAATCTTACGTTTAAAAGCCCTTTTTCATGGATTTTCCTCAGAGACTTTGCAGAAACCAAGGGGTCAGTTATTTATCAGTTGGAACATTTTGGACTTTATGATCACAAATGCTTTTTAATCTGTGTAACTTCATCTACAGAAAACCATGGTCCATTAAGACTAGAGCGATCCCTCTATCTCTTCATGCCAGGCTTCTACCAGGGAGATAACCTGTACACATTACTCACGAGCATAGTGCGTAATCCACATAGGGTAATGTCTGCAGATTTGAGTATGTGTTCCCTAATTCTTTATCTAGCATGTAGAGTATAAATAACACAATACTGGATGCTTTTATGGATGAACAAGGAATAATACCTAGCACCTTTCT
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TGGGCGACAGAGCGAGACTCCATCTCAAAAAAATAAATAAATAAATAAAATAGTAGTAATCCTTTCCATTGGTATATCATGTTACAGTTTTGGATTATTTTCCATTTTTTTCCTATAAGTTTTACATATATATATGGACACACACAACTTATATTCTTTTTCATTAAGATAGCATATGCATTTTTTCATATGGCTACACACCCTGCTACACAATCTTCCTAATATAGCCTTTTATAAAAGCCTCCCCATGTTTAGACTCTGTTCCGTTCCCTCACAAGGCTGTAGCCTCTAGCCTCCACTGTGACGTTCACATCAGTCAAGCCCTTTCCCTTGCCTTGCTCTTTGAACTCTGTTCTTCCAGTTCTTCATGTTATTAGCTTGTCCTTATCCCTCACTGTTTATTTATTATCAATTTCTCTGACTCTGCAACATAAGAGTAGAGGGCATGTCTGTACAGTTTCACTATTTTATCTTTAACATTTCATTAATCAGTACAGAAAAATCAAAGAATGAGTGAAAAGACATTAGAGTACCTATGTAAAACTCAGTTTGGGGAATATGAAGGAGCTCTTAGTTTAAAAATTAAAGTTTTAAGATATTACTTATTTTTTCTTTGCAGACCAACATATGCTACTCCAAAAGTTCTAGAAAAGGCAGGATTGACCATGAATGATATTGATGCTTTTGAATTTCATGAAGCTTTCTCGGTAAGTAATTTGAAAGACACATATGAAGGGACTATAGTCATAAAAAATGTCATCCATATTTGTGGGAGAGAGCAAGGCATGGTTTATGATGTGAGTAGAGCAGGAGTGGACCTGCATATTTTAAGTACTGATTCACACTGCTGGGAGGGGCCCGAGGGGAGGGAAGCAAGGGCCACACATACAGTGTTGGAGAACATACCAAATTGCTTCTTTAGGAAATTGCCATTGAAAACTGATACAAAGATTTGTTCAACTTTACTTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTCTGTTGCCCCAGCTGGAGTGTAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTTCCAGGTTCAAGCAATTTTCTTGTCTCAGCCTCCCGAGTAGCTGGGACAAGCAGGCGCCTGCCACCATGCCCGACTAATTTTTTTTATATTTTTAATAGAGACAGGGTTTCACCATATTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACTGTGCCTGGCCGATTTGTTCAACTTTAAACCATACCTAAAGTTGTTAAACTTTCACAAACCATTCCTATAAGAAAGCGTAGAGGAACATGAATAACGAGGTTCTTATTCGATTATTTTCTCTTCCAGGGTCAGATTTTGGCAAATTTTAAAGCCATGGATTCTGATTGGTTTGCAGAAAACTACATGGGTAGAAAAACCAAGGTGAGTTTCTAATTTTAAAAAATGCGTGAATTTTCAAAGCACGTTAATAATTGGATCTTAGTTACCTGTTCTTAAGAATATGAAGGGAAAGCTTCTCTTTCTTTTGAAGAATTTTGTCTTTCATTAAAGATATTTATTTCTTAGTGTAAAAGTAGAAATTCTTGTATTTCATTAAATATATTTATTTCTTAGTTTAAAAATAGAAATTATTTAGCAAAAATAAAATTCTGTGTTTTTTGTTCCTTGCATTCTGACATTAGATGAAAAATAAATGGACTCCTGACTTTTAATATTGACCTAGACTTACTTTCTTTTGCAGTAAAATTATTTGTAATATGTCTGACGTTACGTATTTTCCTCTATCTCTCTTACTTCGTAGTACTAAGAGCCTAGCTTGATTCTGATCTTAAGTAAACTTATCTTTACATTTGTGTCTTTGGGGGAGCCAGGTTGGATTGCCTCCTTTGGAGAAGTTTAATAACTGGGGTGGATCTCTGTCCCTGGGACACCCATTTGGAGCCACTGGCTGCAGGTTGGTCATGGCTGCTGCCAACAGATTACGGAAAGAAGGAGGCCAGTATGGCTTAGGGGCTGCGTGTGCAGCTGGAGGGCAGGTACGTTACAGTGGTGTCATAGGACCCTCCAGAGAGTCATTTTCTTGGAATGACTAGAATGTATGATTTAGTTTGAAACCTTCTTAAAGCAATATTTTTGATGACCTGGGGGTGGGGAGTGGGGAGGGATAACAGCTGTAATTCTGATAAAACTTTTTGTTTTTTGGGTTTTTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCACCCAGGTTGGAATGCAGTGGTAATATCTTAGCTCACTGCAACCTCCACTTCCCGGATTCAGGTGATTCTCGTGCCTCAGCCTCCCGAGCAGTTGAGATTACAGGTGTGCACCACCATGTCCAGTTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCGCCATGTTGGCCAGGCTAGTCTCGAATTGCCGACTTCAAGTGATCCACCCTCCTTGGCCTCCCAAAGTGCTGTGATTACAGGCATGAGCCACCATGCCCTGCCATAATTCTGATAATTCTTTGGAAGGAAACAGCTATTTAAACCCAAGCTATTTTTCCCCAATATAATGTTTATTTTTTACTTATAAATATATGCTGATTATGAAAATTGTGGAATATATGAAAAGTATATAGAAAAAGTTAGAATCATCTATAATCTCCCCATCAGACATTAACATTATTAACATCTTGATATATTTTCTTCTTTAATAATTAACTTTTATTTATCTAGTCACCATAAGACTTTATAAAATCTCTCCAAGAGAGAAACTATCTTTCTAGAGAACTGAATTATACCTTAACTGGGGAGTTAATTTACTTCTGGATAACTTACTGCTGTTCAGCTGGGGAAATATATTGTTGACAGATTTTTTCCTTTCTACTTCACTTGCATTAGAGACCCAACTTCCTGACTGCTGTAGCATCTCACTCTAGGAATAAAATCCAAAAGGAAGATTGTAGTTTGTTTTTTGTTTGTTTGTTTTTTGAGACAGAGTCTCACTCTGTCCCCCAGGCTGGAGTGCAGTGGTGCCACCTCGGCTCACTGCAACCTCTGCCTCGCGAGTTCAAGCGATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCTCACCACCAAGCCCGGGCAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTATTGGCCAGGCCGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCTGGCCTGTTTTTGTTTTTTTTTTTTTTTTTTAATCCCGATGTGAACAGATTTTCTCTTCCTCTAGATTACAGAAACTTCCTGTTCCTGATCAAAATGAATAAATATTTAAAAGCATAAACTGGCCGGGTGCAGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGTTGAGGCGGGTAGGTCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCTTGTCTCTACTAAAATTATAAAAACTAGCCTAGTGTGGTGGTGTGCGCCTGTAATTCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGCGCCATTGCACTCCAGCCTGGTGACAGAGAGAGACTCTGTCTCAAAAATAAAGTAAATGAAATAAATCTTACGTTTAAAAGCCCTTTTTCATGGATTTTCCTCAGAGACTTTGCAGAAACCAAGGGGTCAGTTATTTATCAGTTGGAACATTTTGGACTTTATGATCACAAATGCTTTTTAATCTGTGTAACTTCATCTACAGAAAACCATGGTCCATTAAGACTAGAGCGATCCCTCTATCTCTTCATGCCAGGCTTCTACCAGGGAGATAACCTGTACACATTACTCACGAGCATAGTGCGTAATCCACATAGGGTAATGTCTGCAGATTTGAGTATGTGTTCCCTAATTCTTTATCTAGCATGTAGAGTATAAATAACACAATACTGGATGCTTTTATGGATGAACAAGGAATAATACCTAGCACCTTTCT
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Task1_train_3191
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This sequence change occurs on Chromosome 2, altering SELENOI (selenoprotein I). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Spastic paraplegia 81, autosomal recessive
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GGCGGGGCAGAGGCGCTCCCCACATCCCAGACGATGGGCAGCCGGGCAGAGACGCTCCTCACTTCCTAGATGTGATGGCGGCCGGGAAGAGGCGCTCCTCACTTCCCAGATGGGGTGGCGGCCGGGCAGAGGCTGCAATCTTGGCACTTTGGGAGGCCAAGGCAGGCGGCTGGGAGGTGGAGGTTGTAGCGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCGCCATTGAGCACTGAGTGAACCAGACTCCGTCTGCAATCCCGGCACCTCGGGAGGCCGAGGCTGGCGGATCACTCGCGGTTAGGAGCTGGAGACCAGCCCGGCCAACACAGCGAAACCCCGTCTCCACCAAAAAAATACGAAAACCAGTCAGGCGTGGCGGCGTGCGCCTGCAATTGCAGGCACTCCGCAGGCTGAGGCAGGAGAATCAGGCAGGGAGATTGCAGTGAGCCGAGATGGCAGCAGTATAGTCCAGCTTCGGCTCGGCATGAGAGGGAGACCATGGGGAGAGGGAAACCATGGGGAGAGGGAGACCATGGGGAGAGGGAGAGGGAGAGGGAGAGGGAGCGCATTCCCTCCTCTTGAAATGACATACTTCTTTATCTCTTATCAGCTGAAATCCAACTCATTCTTTATGTCCTCTACTCAGATTTCACTTGCCTGAAAAGCCATTCTAGATTATCTTAGCCTAAAGAGAACCTTTCCCTTATCTGTACTCTTTTATGGTTTGTGATATACCATACCTTTATTATCATGTTTTGTTCCTTTCTCTTTTTAATTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCACCATCCCCGGCTAAGTTTTTGTATTTTTAGTAGAGACAGGGTTTGGCCATGTTGGCCAGGCTGGTCTTGGACTCCTAACCTCAGGGGATCCTCCTGCCTTGGCCTCCGAAAGTGCTGGGATCATAGGCGTGAGCCACCACACCCGGCCTGTTCCTTTCTCAATTGTAAATTCTCTGAGGGCACAGTTTATTCTAAGATTCTTCCAATCCTTATAGCACCAAGAATAGTGCATTAGTTTCAGTAAATTCAATTCTTATATTTGCTGAATATCCACTGTGTGCATTTTCTGAAAGCATTTAAAATTATGGAGGCAGTAGGTCTATAAAGAAGTGATTATGATTTCAAACAGGATAGAATAGATGTTGTGACTGAAGTACTTTTGGATCCTAGAGCAAGGAGGGGTGAGATAAGTTGTGATGAATTACTATGGCATGTTCGCTGGAAGCTTGAGAATTTGTAGCTAGTGAAACAACCCAATTGTTCCATAGATTTGGAGGTATTCAGACTCCAACTAAAATGCTACTTTCTCAGATCTAAAATTGACACCATTCAGTGTAATATGACATTTTGATTTTTAGATTAAACTTTGAAGAATTATATATTTTATTTCTGAAATCTTTGTTTTTTGTTTAAAATTTTTTTTAGAGGCAGGATCTCGCTCTGTTGCCCAGACTGGAATGCAGTGGCATGATCATAGCTCACTGCAGGTTCAAACTCCTGGGCTCAAACAATCTTCCCACCTCAGCCTCCTGAGTAGCAGGAACTACAGGTGCGCACCACCATGCGTGGCTAATTTTTAAATTTTTTGTAAAGACAGAGTTTTGCTATGTTGCCCAGGCTGGTCTCAAACTTGTGGGCTCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGTGGGGATTACAGGTGTGAGACACTGTGCCTGGCCCTAAACTCTTTGAAGTGTAGAATTAAATAATTAGATTTTTATAGTACCAGCTGATAGCTATACTTAACATTCCTGTGATAAGCTGATTTGTTTTGTTTTTTCCTCCAGTTTATTAAAGAAGACTTTCTCCATCCTGGTGCATACGTTGAACTTTTCCTGTGGTTTGTTTTTGTTGCAGATGGTGTGGACGGAAAGCAAGCTCGCAGAACCAATTCTAGCACTCCCTTAGGGGAGCTTTTTGATCATGGCCTGGATAGTTGGTCATGTGTTTACTTTGTTGTGACTGTTTATTCCATCTTTGGAAGAGGATCAACTGGTGTCAGTGTTTTTGTTCTTTATCTCCTGCTATGGGTAGTTTTGTTTTCTTTCATCCTGTCCCACTGGGAAAAGTATAACACAGGGATTCTTTTCCTGCCATGGGGATATGACATTAGCCAGGTGGTAAGTATGTGTTCTACCTTAAATTTTCAGTATTACCATGATACTTTTGGAAAGCTTTTGTCATTGCTTATTTATTGCTCTTAGGCTTTTTTGATTAGAATTGATATGTACTTAAAAATTTTTTATTTTTATTTATGGAAAATTTCAAAAATAGAATAGTATAGTGAATAGTAAAGTAGAGAGAATATTTAGGAAAAAGTAGAGAGAATAGACCCTAATGTACCCATTGCTGAGGCTGAGGCCTCCCGAGTAGCTGAGATTACAGGTGCCCACTATCACGCCTGGCTAATTTTTATATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCTGGGCTGGTCTCTAACTCCTGACCTCAAGTGATCTTCCTGCCTTGGCTTCCCGAAGTGTTAGGATTACAGGCATGAGCCACCGTGCTCGACCCTTCTCAATTATTTTAAAGGAAATTTCTGATATTATATGATAAATACTTCGCTATATATCTCTAAATGATAAAAGCTTCCTTTAAAAAAACAATCACAATGCCAGTATTACACCAAAAATTTAACCATTTCTTAATGTTATTGCATGTTCATTTGAACTCTTGATTTTGGAAAGAAAGATATGCACATATAATTGAATGGTTGGCTTTTTGTGTTCATTGCCACCTTTTCAGTGTGTAGAGAGATTTCTTTTTTCTTACTTTAATGGCCTTGCTATTAACTCTCCCTGCCTTGAATCCCAGCTTTTTGTGTTGCCATTTTGCCCATTTGCACCTAAGTCTCCAGTAAAGAAATCAGAAGTTGGAGTGTTTGTTGAAGTGGTTGGGTGGGTAAATTTGGATCATCTTACAACTTAACCAATTTATGAGTTGCTGTTAAAGTGCTCCAAATGATGGCCAGTTGCTTGCATTGTCTACAAGTTAGTTATTTTATAGCATTGTTGGCTAAAAGATTGTATTTTTTTTTTTTTTTTTTTGAGACAGAATTTCGCTATTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCGCAACCTCTGCCTCCTGGGTTCAGGCGATTCTTCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTGGAACTCCTGACACCTCAGGTGATCTGCCCGTCTTGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCCCCACGTCCAGCCAAAAGATTGTATTTTTAAAGGTAAGAAGACTTGCCACATACCAAATATAAGCATACTTCTTGCCTTTACTAAAACTGTTTGACTTGACTTAATGCTGCATAAAGCATGGTGACTCCTGATCTTTCTAGCGTTAATGCTTCTGTATGCTTTTGTCTGCATTTTCCTTCCAGACTATTTCTTTTGTCTACATAGTGACTGCAGTTGTGGGAGTTGAGGCCTGGTATGAACCTTTCCTGTTTAATTTCTTATATAGAGACCTATTCACTGCAATGATTATTGGTAAGAAGCTCCATGTTGAAGCCTGTTTTAACCATCACTTTGTTATCAAAAGAGCCGGTATTTGACTATAACAAGCAACAACACCCTTTGCCTCACAAAACCTCCAGGAAGCAGAACAACCCTACAACCTTGTAGGATTTCAGCCTAACCATTAAGAAAAATAAGGTTTCCCTGTTTTTGGGGTTTTTTTGTTCAGCATCAGCTATTTCTAATCAGAGGGAAATACCAAAATAGATCACATAAGCCTGATAAAGTGACTATTCAAATTAACCTAGGCTGTATTGGAGGGT
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GGCGGGGCAGAGGCGCTCCCCACATCCCAGACGATGGGCAGCCGGGCAGAGACGCTCCTCACTTCCTAGATGTGATGGCGGCCGGGAAGAGGCGCTCCTCACTTCCCAGATGGGGTGGCGGCCGGGCAGAGGCTGCAATCTTGGCACTTTGGGAGGCCAAGGCAGGCGGCTGGGAGGTGGAGGTTGTAGCGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCGCCATTGAGCACTGAGTGAACCAGACTCCGTCTGCAATCCCGGCACCTCGGGAGGCCGAGGCTGGCGGATCACTCGCGGTTAGGAGCTGGAGACCAGCCCGGCCAACACAGCGAAACCCCGTCTCCACCAAAAAAATACGAAAACCAGTCAGGCGTGGCGGCGTGCGCCTGCAATTGCAGGCACTCCGCAGGCTGAGGCAGGAGAATCAGGCAGGGAGATTGCAGTGAGCCGAGATGGCAGCAGTATAGTCCAGCTTCGGCTCGGCATGAGAGGGAGACCATGGGGAGAGGGAAACCATGGGGAGAGGGAGACCATGGGGAGAGGGAGAGGGAGAGGGAGAGGGAGCGCATTCCCTCCTCTTGAAATGACATACTTCTTTATCTCTTATCAGCTGAAATCCAACTCATTCTTTATGTCCTCTACTCAGATTTCACTTGCCTGAAAAGCCATTCTAGATTATCTTAGCCTAAAGAGAACCTTTCCCTTATCTGTACTCTTTTATGGTTTGTGATATACCATACCTTTATTATCATGTTTTGTTCCTTTCTCTTTTTAATTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCACCATCCCCGGCTAAGTTTTTGTATTTTTAGTAGAGACAGGGTTTGGCCATGTTGGCCAGGCTGGTCTTGGACTCCTAACCTCAGGGGATCCTCCTGCCTTGGCCTCCGAAAGTGCTGGGATCATAGGCGTGAGCCACCACACCCGGCCTGTTCCTTTCTCAATTGTAAATTCTCTGAGGGCACAGTTTATTCTAAGATTCTTCCAATCCTTATAGCACCAAGAATAGTGCATTAGTTTCAGTAAATTCAATTCTTATATTTGCTGAATATCCACTGTGTGCATTTTCTGAAAGCATTTAAAATTATGGAGGCAGTAGGTCTATAAAGAAGTGATTATGATTTCAAACAGGATAGAATAGATGTTGTGACTGAAGTACTTTTGGATCCTAGAGCAAGGAGGGGTGAGATAAGTTGTGATGAATTACTATGGCATGTTCGCTGGAAGCTTGAGAATTTGTAGCTAGTGAAACAACCCAATTGTTCCATAGATTTGGAGGTATTCAGACTCCAACTAAAATGCTACTTTCTCAGATCTAAAATTGACACCATTCAGTGTAATATGACATTTTGATTTTTAGATTAAACTTTGAAGAATTATATATTTTATTTCTGAAATCTTTGTTTTTTGTTTAAAATTTTTTTTAGAGGCAGGATCTCGCTCTGTTGCCCAGACTGGAATGCAGTGGCATGATCATAGCTCACTGCAGGTTCAAACTCCTGGGCTCAAACAATCTTCCCACCTCAGCCTCCTGAGTAGCAGGAACTACAGGTGCGCACCACCATGCGTGGCTAATTTTTAAATTTTTTGTAAAGACAGAGTTTTGCTATGTTGCCCAGGCTGGTCTCAAACTTGTGGGCTCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGTGGGGATTACAGGTGTGAGACACTGTGCCTGGCCCTAAACTCTTTGAAGTGTAGAATTAAATAATTAGATTTTTATAGTACCAGCTGATAGCTATACTTAACATTCCTGTGATAAGCTGATTTGTTTTGTTTTTTCCTCCAGTTTATTAAAGAAGACTTTCTCCATCCTGGTGCATACGTTGAACTTTTCCTGTGGTTTGTTTTTGTTGCAGATGGTGTGGACGGAAAGCAAGCTCCCAGAACCAATTCTAGCACTCCCTTAGGGGAGCTTTTTGATCATGGCCTGGATAGTTGGTCATGTGTTTACTTTGTTGTGACTGTTTATTCCATCTTTGGAAGAGGATCAACTGGTGTCAGTGTTTTTGTTCTTTATCTCCTGCTATGGGTAGTTTTGTTTTCTTTCATCCTGTCCCACTGGGAAAAGTATAACACAGGGATTCTTTTCCTGCCATGGGGATATGACATTAGCCAGGTGGTAAGTATGTGTTCTACCTTAAATTTTCAGTATTACCATGATACTTTTGGAAAGCTTTTGTCATTGCTTATTTATTGCTCTTAGGCTTTTTTGATTAGAATTGATATGTACTTAAAAATTTTTTATTTTTATTTATGGAAAATTTCAAAAATAGAATAGTATAGTGAATAGTAAAGTAGAGAGAATATTTAGGAAAAAGTAGAGAGAATAGACCCTAATGTACCCATTGCTGAGGCTGAGGCCTCCCGAGTAGCTGAGATTACAGGTGCCCACTATCACGCCTGGCTAATTTTTATATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCTGGGCTGGTCTCTAACTCCTGACCTCAAGTGATCTTCCTGCCTTGGCTTCCCGAAGTGTTAGGATTACAGGCATGAGCCACCGTGCTCGACCCTTCTCAATTATTTTAAAGGAAATTTCTGATATTATATGATAAATACTTCGCTATATATCTCTAAATGATAAAAGCTTCCTTTAAAAAAACAATCACAATGCCAGTATTACACCAAAAATTTAACCATTTCTTAATGTTATTGCATGTTCATTTGAACTCTTGATTTTGGAAAGAAAGATATGCACATATAATTGAATGGTTGGCTTTTTGTGTTCATTGCCACCTTTTCAGTGTGTAGAGAGATTTCTTTTTTCTTACTTTAATGGCCTTGCTATTAACTCTCCCTGCCTTGAATCCCAGCTTTTTGTGTTGCCATTTTGCCCATTTGCACCTAAGTCTCCAGTAAAGAAATCAGAAGTTGGAGTGTTTGTTGAAGTGGTTGGGTGGGTAAATTTGGATCATCTTACAACTTAACCAATTTATGAGTTGCTGTTAAAGTGCTCCAAATGATGGCCAGTTGCTTGCATTGTCTACAAGTTAGTTATTTTATAGCATTGTTGGCTAAAAGATTGTATTTTTTTTTTTTTTTTTTTGAGACAGAATTTCGCTATTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCGCAACCTCTGCCTCCTGGGTTCAGGCGATTCTTCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTGGAACTCCTGACACCTCAGGTGATCTGCCCGTCTTGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCCCCACGTCCAGCCAAAAGATTGTATTTTTAAAGGTAAGAAGACTTGCCACATACCAAATATAAGCATACTTCTTGCCTTTACTAAAACTGTTTGACTTGACTTAATGCTGCATAAAGCATGGTGACTCCTGATCTTTCTAGCGTTAATGCTTCTGTATGCTTTTGTCTGCATTTTCCTTCCAGACTATTTCTTTTGTCTACATAGTGACTGCAGTTGTGGGAGTTGAGGCCTGGTATGAACCTTTCCTGTTTAATTTCTTATATAGAGACCTATTCACTGCAATGATTATTGGTAAGAAGCTCCATGTTGAAGCCTGTTTTAACCATCACTTTGTTATCAAAAGAGCCGGTATTTGACTATAACAAGCAACAACACCCTTTGCCTCACAAAACCTCCAGGAAGCAGAACAACCCTACAACCTTGTAGGATTTCAGCCTAACCATTAAGAAAAATAAGGTTTCCCTGTTTTTGGGGTTTTTTTGTTCAGCATCAGCTATTTCTAATCAGAGGGAAATACCAAAATAGATCACATAAGCCTGATAAAGTGACTATTCAAATTAACCTAGGCTGTATTGGAGGGT
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Task1_train_3192
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The variant affects gene OTOF (otoferlin), which is on Chromosome 2. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Auditory neuropathy, autosomal recessive, 1
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AAGTGGGATGTTGTAGTGAACCTTGGCCTCATAATGACCCTTGGCCTGTGACAGGACCCAGACATTCTGGACGGTATGGTTCCCGCTTCCACAGATGCTACTGTATACAAGAGGCTGGGGGAGGAAGAGGTGGGGCAGGCTAGATTGGGGATGGCATGGGTGCGTGGAGAGAGGAGAGGGGAAGACTGCAGAGAATGGACGGGCGGGAGATGAAGAACGCTACCAGAGGTCACAGCTGGAGCAGAAGCTGAGCAAGAAGGCTCAGGCGTGTCTCCTGCAGGGAGGCAGTCTGTGGGTGTTCAGCATCTCTCAGCTTTGGAGAGGAGATGCGTGCAGGGCTTTGGAGGCCCATGGGAGAGCCAGCGTGGCTCGCAAGGGTGGCAAAGAAGGAGGGCCCTGGGAAAAATGTAACGACTTTCACCCTTTCTTTTCCAGATCAACTCTGAACTGCAAGTTCCTCCCACTCAGGTGTTGCGGGTACCCACAAAATGAGCTGGACCGCCAAAGGCTGATGTGTTAGGGCTGGCCTGATGCTGGTGTCTGTGCCGGAGCCAGCTCATATCACCCACTGGGCCGCACCTGGGCCTGCTCTCTGGATTTTCCAGGGCTGTCTTTATAGCCTGTCGAAATAAGGAGCCAGAGGAGTTACCTGTGTCCTGCATTATGATTAAAGCCTTTTAAAGTTGTGGCTGAATCTCTTTAAAGAGGTCAGGTCTAGCAAGACCAGGCCCTTGCCCCTACCTCTGTGTCATGAGGGGACTTTGCCCCAGGCTCAGATAGTGGTGTGAGTCAGAGGCCGAGGCCAGTAGCGTGGGGCTCCTTTCTTGCTTTCAGGGGAACTGGTTTCTGTGGGTGGAGGCTAGAGCTTTTGGGCCCTTGTGGGGCCTTAAGCCTTCAGACTGGCCCCAGACCTGAAGGATTCTTTCGGTGCTTTGGGGGCCCCTGGGCCCAGGCTGGTGTGCCCTTTGGGCTATGGTGTAAGACTCCTCCTGTGGGCAGCCTGGGTGGGCAGCCCTGTGCCTGAGGCCTGCCTTGAACCCTGGGCCACCAGAGGCCACTTGAAGGGGAAAGGCCATGGGAGCCCTGCTGGTACTGAATCTGCCAGCCTAGAGAACTGCTGCCTCTGCCCCGCACCTGCGGCTGCTCCTCTCAGCTTGACCAGTGCAGACCTGTCAGCTCAGTGCTTGACTTCTTTTATTTAGAGAAAAATCACCACTCAAGAAAAGAAAAACAGCCAACAGAAACCCAGACACAGGCAGGGGCAGCACTTGACGGGCCAGCTCCCAGCTGCAGCTGAAAGGGCTGGAAGGGCAAGGGGGCAGGGGTGGGAGGACAGGGTGTGCCCGGGATGGGGAGTCCCCTCTGCTGCTTCTCACAGCTCCTCAGCTGGGCCTGGAGGCGCTGGCTGGGGCAGAGGGAGCTCTGGGAAGCCATGGAAACCCACAGGCAGGACAGGCGACCCCCTGGGAAGTGAGAGGAGCCAAGTGGAGCCCAGCAGTGGCAGAAGCAGCCGCGCTGGGACTTGTGGGCAGGGTCTGGCCCCTGCTGCGGATCAAAGACCGGTGCTATCTGCAGGGGTCACGGCGGGGATACCTTTTGCTCGTTCATTCTTTTTAAAGCCCTGGGCACTGACCCATGGTCCTTGGTTAATTTCACTAAAGCTTCAATCCTGTACTTGGAAGACCTGGGGAGGGTTTCAGGAGTCTTCCTCTGGAGCCTGGGCCTGAAGAAGGGTGGCGCCTCAGCCAGGTGGGGCAAGAGAGACCCATTCCAGGTCCCCACCCCATCCAAGGCTCCCCAGCCCACAGGCAGGGGTCAGAGGGGCGGGACTGGGCAAGCCGCAGCCTGGGGCAGTGAGGACAGGCGGCCCCCGCAAGCAGGAGGCAGGCTCGGCCCAAGGCATGAAGAGTGGACGCTGGGCTCCTCAGGCTCCCCAGGGGAGATGGGAAAGAGTCCAAGCCACTGAAAGGAAATGCGGCAGGGCTGGGGAGCGGCTGGCGGGAGCTGGCGGCCTTCATGCCCCAAGGAGCTTTTTGACCATGTAGCCAGGGAGGCTGTAGAGGAAGAGCCCCAACATGAGCAGCCCCAACAGCGCCAGCACGATCTTGATGATGAGCCACTTGTACCGGGTGCAGATGAGGTACTTGATGGACTTGAGAGGGTTGAGGAACCAGACGAAGGCCGTGTCGGGCCGGCTGGGAAGTGGAAGAGAGGAGCCGGTCAGCCAGTGGGCAGGAGCTGCCTCCCAGTGCACCCCATCCTCTGTCCTTCTGGACCCCCAAAAGCCCTGCCATGGCCCCAGCCCCAAAAGCAGTGAATGCTGGAGCCAGGGTTTAAACCCATTTCTAAGTACCCGACTTGCTGCTTACAAAACTCTATCCTCCCTGCAGCACCTTTGGGGCCCGAATCTCCTCCTAAGGCCTAGATGGGAGCTACTTGCAGCATGGGGCAGCCTTGGCCCTGCAGGCAGTTCTCATCGTTAGGAAGCTCCTGCGGTTAGCTCGTTCTATGTGCTGCCCCACGTCCTTGGTAAGACTGGTGCTTCACAACCTCTTCCTTTCTGATGGACATAAATGGCTGTTCCCACCGGGCCCTGCTGAGGGTCTGAGCAGCCCCTGTGGGGTGCAAGCTGCCCTCACCGACCTGCCCACTCTCAGGATGAAGACCCACTCCACCTTCTGTAGAGCCTCCCAGCCGAGAAGCACCTGGCCAGCCTCACTATCTGTCGTTTGTGTTATAAAAACAATAGGTTTTGTAAAATGTCAAGATACAAGTGAAAGTACTGCATATGCATTTTCAAACTACTGCCTCCCAGAGGACATGGCGTGCAGCCCCAGAGCTGAGCTCAGTATTGGTGGGGACACAGAGCCGGGGCTTGGGTGCAGGGCACCTGGTTTTGAATGGTTTTCACAGGCAAGTGAGGCACCTCTATCAACCTCGGTTTCTTCATGTATAAAATGGGGTTACAAGCAGTACCTACCTCCTGGGTTTGGCGCAATGGCACAGTGAGCCAGTGCCTGGGGAGCTCTGAGCACCTGCAGTTGGGTGTTCAGGCCATGGTGGCTATGAAATGTTTGAGTTGAATGGAATTATTATCCTGAAGGGCAGAAAACAACAGCCCTGGACTGGGAGGTCACACACGGGTGAGAGCCATTTCCAGACCTGTTGGCTAACCCTGGCCACACCCTTCCCTTTTCCCTGTCCATAGCTCAGCTTCTTTCTGCCAATGAAATTGGGTTAGAGTCGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTATCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTGGCAGTGAGCCAAGATTGTGCCACTGCACTCTAGCCTGGGCGACAGAGCGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAAAAAATTGGGTTACAGTCTGGGAGAAACATGGCTGGGAGCAGAGGTGGTGTGCAAAGAACACAGGATTGGAAATTTGGAAACCTTGGCTTGAGTCCCGGCTCTACCCTAATTTGCTGGGTAACCTTGAGCAAGCTACTTCACCTCTTTGGCTTAATGTGGAAAAGTGTAAAATAGTCATTTCTAGTTCTGAGAGTCTATTCTGTCATGAAAGCTTGAAAGTTGCTGTGCATGTTTGTGTGGGCTTAAGTGTGTGCCTGTGTGTGCTTGAGTGCATGTGTATGCACTTGTGCGTGGCACATGTGTGCATACATGCTTGTGTGTGTTTGTGTGCACATGTATGCATATTTGTGTTTGTGGATGTGTGCGTGTATATGTGTGTGTGTGCACGCGCCTGCCTAGCCCTTGGTCCAGAGGAAGAAGTAAGAAATATCAGACCCAGGAGGCCACTGGGCTCAGGCCCCGAGGATTTTCTTGACCAGGTAGCCAGGCACAGAGTAGAGGAACAGGGCGAGGAGGAGGAGCAGCAGCAGGAGCAGCAACAGTTTGAGG
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AAGTGGGATGTTGTAGTGAACCTTGGCCTCATAATGACCCTTGGCCTGTGACAGGACCCAGACATTCTGGACGGTATGGTTCCCGCTTCCACAGATGCTACTGTATACAAGAGGCTGGGGGAGGAAGAGGTGGGGCAGGCTAGATTGGGGATGGCATGGGTGCGTGGAGAGAGGAGAGGGGAAGACTGCAGAGAATGGACGGGCGGGAGATGAAGAACGCTACCAGAGGTCACAGCTGGAGCAGAAGCTGAGCAAGAAGGCTCAGGCGTGTCTCCTGCAGGGAGGCAGTCTGTGGGTGTTCAGCATCTCTCAGCTTTGGAGAGGAGATGCGTGCAGGGCTTTGGAGGCCCATGGGAGAGCCAGCGTGGCTCGCAAGGGTGGCAAAGAAGGAGGGCCCTGGGAAAAATGTAACGACTTTCACCCTTTCTTTTCCAGATCAACTCTGAACTGCAAGTTCCTCCCACTCAGGTGTTGCGGGTACCCACAAAATGAGCTGGACCGCCAAAGGCTGATGTGTTAGGGCTGGCCTGATGCTGGTGTCTGTGCCGGAGCCAGCTCATATCACCCACTGGGCCGCACCTGGGCCTGCTCTCTGGATTTTCCAGGGCTGTCTTTATAGCCTGTCGAAATAAGGAGCCAGAGGAGTTACCTGTGTCCTGCATTATGATTAAAGCCTTTTAAAGTTGTGGCTGAATCTCTTTAAAGAGGTCAGGTCTAGCAAGACCAGGCCCTTGCCCCTACCTCTGTGTCATGAGGGGACTTTGCCCCAGGCTCAGATAGTGGTGTGAGTCAGAGGCCGAGGCCAGTAGCGTGGGGCTCCTTTCTTGCTTTCAGGGGAACTGGTTTCTGTGGGTGGAGGCTAGAGCTTTTGGGCCCTTGTGGGGCCTTAAGCCTTCAGACTGGCCCCAGACCTGAAGGATTCTTTCGGTGCTTTGGGGGCCCCTGGGCCCAGGCTGGTGTGCCCTTTGGGCTATGGTGTAAGACTCCTCCTGTGGGCAGCCTGGGTGGGCAGCCCTGTGCCTGAGGCCTGCCTTGAACCCTGGGCCACCAGAGGCCACTTGAAGGGGAAAGGCCATGGGAGCCCTGCTGGTACTGAATCTGCCAGCCTAGAGAACTGCTGCCTCTGCCCCGCACCTGCGGCTGCTCCTCTCAGCTTGACCAGTGCAGACCTGTCAGCTCAGTGCTTGACTTCTTTTATTTAGAGAAAAATCACCACTCAAGAAAAGAAAAACAGCCAACAGAAACCCAGACACAGGCAGGGGCAGCACTTGACGGGCCAGCTCCCAGCTGCAGCTGAAAGGGCTGGAAGGGCAAGGGGGCAGGGGTGGGAGGACAGGGTGTGCCCGGGATGGGGAGTCCCCTCTGCTGCTTCTCACAGCTCCTCAGCTGGGCCTGGAGGCGCTGGCTGGGGCAGAGGGAGCTCTGGGAAGCCATGGAAACCCACAGGCAGGACAGGCGACCCCCTGGGAAGTGAGAGGAGCCAAGTGGAGCCCAGCAGTGGCAGAAGCAGCCGCGCTGGGACTTGTGGGCAGGGTCTGGCCCCTGCTGCGGATCAAAGACCGGTGCTATCTGCAGGGGTCACGGCGGGGATACCTTTTGCTCGTTCATTCTTTTTAAAGCCCTGGGCACTGACCCATGGTCCTTGGTTAATTTCACTAAAGCTTCAATCCTGTACTTGGAAGACCTGGGGAGGGTTTCAGGAGTCTTCCTCTGGAGCCTGGGCCTGAAGAAGGGTGGCGCCTCAGCCAGGTGGGGCAAGAGAGACCCATTCCAGGTCCCCACCCCATCCAAGGCTCCCCAGCCCACAGGCAGGGGTCAGAGGGGCGGGACTGGGCAAGCCGCAGCCTGGGGCAGTGAGGACAGGCGGCCCCCGCAAGCAGGAGGCAGGCTCGGCCCAAGGCATGAAGAGTGGACGCTGGGCTCCTCAGGCTCCCCAGGGGAGATGGGAAAGAGTCCAAGCCACTGAAAGGAAATGCGGCAGGGCTGGGGAGCGGCTGGCGGGAGCTGGCGGCCTTCATGCCCCAAGGAGCTTTTTGACCATGTAGCCACGGAGGCTGTAGAGGAAGAGCCCCAACATGAGCAGCCCCAACAGCGCCAGCACGATCTTGATGATGAGCCACTTGTACCGGGTGCAGATGAGGTACTTGATGGACTTGAGAGGGTTGAGGAACCAGACGAAGGCCGTGTCGGGCCGGCTGGGAAGTGGAAGAGAGGAGCCGGTCAGCCAGTGGGCAGGAGCTGCCTCCCAGTGCACCCCATCCTCTGTCCTTCTGGACCCCCAAAAGCCCTGCCATGGCCCCAGCCCCAAAAGCAGTGAATGCTGGAGCCAGGGTTTAAACCCATTTCTAAGTACCCGACTTGCTGCTTACAAAACTCTATCCTCCCTGCAGCACCTTTGGGGCCCGAATCTCCTCCTAAGGCCTAGATGGGAGCTACTTGCAGCATGGGGCAGCCTTGGCCCTGCAGGCAGTTCTCATCGTTAGGAAGCTCCTGCGGTTAGCTCGTTCTATGTGCTGCCCCACGTCCTTGGTAAGACTGGTGCTTCACAACCTCTTCCTTTCTGATGGACATAAATGGCTGTTCCCACCGGGCCCTGCTGAGGGTCTGAGCAGCCCCTGTGGGGTGCAAGCTGCCCTCACCGACCTGCCCACTCTCAGGATGAAGACCCACTCCACCTTCTGTAGAGCCTCCCAGCCGAGAAGCACCTGGCCAGCCTCACTATCTGTCGTTTGTGTTATAAAAACAATAGGTTTTGTAAAATGTCAAGATACAAGTGAAAGTACTGCATATGCATTTTCAAACTACTGCCTCCCAGAGGACATGGCGTGCAGCCCCAGAGCTGAGCTCAGTATTGGTGGGGACACAGAGCCGGGGCTTGGGTGCAGGGCACCTGGTTTTGAATGGTTTTCACAGGCAAGTGAGGCACCTCTATCAACCTCGGTTTCTTCATGTATAAAATGGGGTTACAAGCAGTACCTACCTCCTGGGTTTGGCGCAATGGCACAGTGAGCCAGTGCCTGGGGAGCTCTGAGCACCTGCAGTTGGGTGTTCAGGCCATGGTGGCTATGAAATGTTTGAGTTGAATGGAATTATTATCCTGAAGGGCAGAAAACAACAGCCCTGGACTGGGAGGTCACACACGGGTGAGAGCCATTTCCAGACCTGTTGGCTAACCCTGGCCACACCCTTCCCTTTTCCCTGTCCATAGCTCAGCTTCTTTCTGCCAATGAAATTGGGTTAGAGTCGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTATCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTGGCAGTGAGCCAAGATTGTGCCACTGCACTCTAGCCTGGGCGACAGAGCGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAAAAAATTGGGTTACAGTCTGGGAGAAACATGGCTGGGAGCAGAGGTGGTGTGCAAAGAACACAGGATTGGAAATTTGGAAACCTTGGCTTGAGTCCCGGCTCTACCCTAATTTGCTGGGTAACCTTGAGCAAGCTACTTCACCTCTTTGGCTTAATGTGGAAAAGTGTAAAATAGTCATTTCTAGTTCTGAGAGTCTATTCTGTCATGAAAGCTTGAAAGTTGCTGTGCATGTTTGTGTGGGCTTAAGTGTGTGCCTGTGTGTGCTTGAGTGCATGTGTATGCACTTGTGCGTGGCACATGTGTGCATACATGCTTGTGTGTGTTTGTGTGCACATGTATGCATATTTGTGTTTGTGGATGTGTGCGTGTATATGTGTGTGTGTGCACGCGCCTGCCTAGCCCTTGGTCCAGAGGAAGAAGTAAGAAATATCAGACCCAGGAGGCCACTGGGCTCAGGCCCCGAGGATTTTCTTGACCAGGTAGCCAGGCACAGAGTAGAGGAACAGGGCGAGGAGGAGGAGCAGCAGCAGGAGCAGCAACAGTTTGAGG
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Task1_train_3193
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This genomic variant is located on Chromosome 2, within the OTOF (otoferlin) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Autosomal recessive nonsyndromic hearing loss 9
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TTGGGGATGGCATGGGTGCGTGGAGAGAGGAGAGGGGAAGACTGCAGAGAATGGACGGGCGGGAGATGAAGAACGCTACCAGAGGTCACAGCTGGAGCAGAAGCTGAGCAAGAAGGCTCAGGCGTGTCTCCTGCAGGGAGGCAGTCTGTGGGTGTTCAGCATCTCTCAGCTTTGGAGAGGAGATGCGTGCAGGGCTTTGGAGGCCCATGGGAGAGCCAGCGTGGCTCGCAAGGGTGGCAAAGAAGGAGGGCCCTGGGAAAAATGTAACGACTTTCACCCTTTCTTTTCCAGATCAACTCTGAACTGCAAGTTCCTCCCACTCAGGTGTTGCGGGTACCCACAAAATGAGCTGGACCGCCAAAGGCTGATGTGTTAGGGCTGGCCTGATGCTGGTGTCTGTGCCGGAGCCAGCTCATATCACCCACTGGGCCGCACCTGGGCCTGCTCTCTGGATTTTCCAGGGCTGTCTTTATAGCCTGTCGAAATAAGGAGCCAGAGGAGTTACCTGTGTCCTGCATTATGATTAAAGCCTTTTAAAGTTGTGGCTGAATCTCTTTAAAGAGGTCAGGTCTAGCAAGACCAGGCCCTTGCCCCTACCTCTGTGTCATGAGGGGACTTTGCCCCAGGCTCAGATAGTGGTGTGAGTCAGAGGCCGAGGCCAGTAGCGTGGGGCTCCTTTCTTGCTTTCAGGGGAACTGGTTTCTGTGGGTGGAGGCTAGAGCTTTTGGGCCCTTGTGGGGCCTTAAGCCTTCAGACTGGCCCCAGACCTGAAGGATTCTTTCGGTGCTTTGGGGGCCCCTGGGCCCAGGCTGGTGTGCCCTTTGGGCTATGGTGTAAGACTCCTCCTGTGGGCAGCCTGGGTGGGCAGCCCTGTGCCTGAGGCCTGCCTTGAACCCTGGGCCACCAGAGGCCACTTGAAGGGGAAAGGCCATGGGAGCCCTGCTGGTACTGAATCTGCCAGCCTAGAGAACTGCTGCCTCTGCCCCGCACCTGCGGCTGCTCCTCTCAGCTTGACCAGTGCAGACCTGTCAGCTCAGTGCTTGACTTCTTTTATTTAGAGAAAAATCACCACTCAAGAAAAGAAAAACAGCCAACAGAAACCCAGACACAGGCAGGGGCAGCACTTGACGGGCCAGCTCCCAGCTGCAGCTGAAAGGGCTGGAAGGGCAAGGGGGCAGGGGTGGGAGGACAGGGTGTGCCCGGGATGGGGAGTCCCCTCTGCTGCTTCTCACAGCTCCTCAGCTGGGCCTGGAGGCGCTGGCTGGGGCAGAGGGAGCTCTGGGAAGCCATGGAAACCCACAGGCAGGACAGGCGACCCCCTGGGAAGTGAGAGGAGCCAAGTGGAGCCCAGCAGTGGCAGAAGCAGCCGCGCTGGGACTTGTGGGCAGGGTCTGGCCCCTGCTGCGGATCAAAGACCGGTGCTATCTGCAGGGGTCACGGCGGGGATACCTTTTGCTCGTTCATTCTTTTTAAAGCCCTGGGCACTGACCCATGGTCCTTGGTTAATTTCACTAAAGCTTCAATCCTGTACTTGGAAGACCTGGGGAGGGTTTCAGGAGTCTTCCTCTGGAGCCTGGGCCTGAAGAAGGGTGGCGCCTCAGCCAGGTGGGGCAAGAGAGACCCATTCCAGGTCCCCACCCCATCCAAGGCTCCCCAGCCCACAGGCAGGGGTCAGAGGGGCGGGACTGGGCAAGCCGCAGCCTGGGGCAGTGAGGACAGGCGGCCCCCGCAAGCAGGAGGCAGGCTCGGCCCAAGGCATGAAGAGTGGACGCTGGGCTCCTCAGGCTCCCCAGGGGAGATGGGAAAGAGTCCAAGCCACTGAAAGGAAATGCGGCAGGGCTGGGGAGCGGCTGGCGGGAGCTGGCGGCCTTCATGCCCCAAGGAGCTTTTTGACCATGTAGCCAGGGAGGCTGTAGAGGAAGAGCCCCAACATGAGCAGCCCCAACAGCGCCAGCACGATCTTGATGATGAGCCACTTGTACCGGGTGCAGATGAGGTACTTGATGGACTTGAGAGGGTTGAGGAACCAGACGAAGGCCGTGTCGGGCCGGCTGGGAAGTGGAAGAGAGGAGCCGGTCAGCCAGTGGGCAGGAGCTGCCTCCCAGTGCACCCCATCCTCTGTCCTTCTGGACCCCCAAAAGCCCTGCCATGGCCCCAGCCCCAAAAGCAGTGAATGCTGGAGCCAGGGTTTAAACCCATTTCTAAGTACCCGACTTGCTGCTTACAAAACTCTATCCTCCCTGCAGCACCTTTGGGGCCCGAATCTCCTCCTAAGGCCTAGATGGGAGCTACTTGCAGCATGGGGCAGCCTTGGCCCTGCAGGCAGTTCTCATCGTTAGGAAGCTCCTGCGGTTAGCTCGTTCTATGTGCTGCCCCACGTCCTTGGTAAGACTGGTGCTTCACAACCTCTTCCTTTCTGATGGACATAAATGGCTGTTCCCACCGGGCCCTGCTGAGGGTCTGAGCAGCCCCTGTGGGGTGCAAGCTGCCCTCACCGACCTGCCCACTCTCAGGATGAAGACCCACTCCACCTTCTGTAGAGCCTCCCAGCCGAGAAGCACCTGGCCAGCCTCACTATCTGTCGTTTGTGTTATAAAAACAATAGGTTTTGTAAAATGTCAAGATACAAGTGAAAGTACTGCATATGCATTTTCAAACTACTGCCTCCCAGAGGACATGGCGTGCAGCCCCAGAGCTGAGCTCAGTATTGGTGGGGACACAGAGCCGGGGCTTGGGTGCAGGGCACCTGGTTTTGAATGGTTTTCACAGGCAAGTGAGGCACCTCTATCAACCTCGGTTTCTTCATGTATAAAATGGGGTTACAAGCAGTACCTACCTCCTGGGTTTGGCGCAATGGCACAGTGAGCCAGTGCCTGGGGAGCTCTGAGCACCTGCAGTTGGGTGTTCAGGCCATGGTGGCTATGAAATGTTTGAGTTGAATGGAATTATTATCCTGAAGGGCAGAAAACAACAGCCCTGGACTGGGAGGTCACACACGGGTGAGAGCCATTTCCAGACCTGTTGGCTAACCCTGGCCACACCCTTCCCTTTTCCCTGTCCATAGCTCAGCTTCTTTCTGCCAATGAAATTGGGTTAGAGTCGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTATCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTGGCAGTGAGCCAAGATTGTGCCACTGCACTCTAGCCTGGGCGACAGAGCGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAAAAAATTGGGTTACAGTCTGGGAGAAACATGGCTGGGAGCAGAGGTGGTGTGCAAAGAACACAGGATTGGAAATTTGGAAACCTTGGCTTGAGTCCCGGCTCTACCCTAATTTGCTGGGTAACCTTGAGCAAGCTACTTCACCTCTTTGGCTTAATGTGGAAAAGTGTAAAATAGTCATTTCTAGTTCTGAGAGTCTATTCTGTCATGAAAGCTTGAAAGTTGCTGTGCATGTTTGTGTGGGCTTAAGTGTGTGCCTGTGTGTGCTTGAGTGCATGTGTATGCACTTGTGCGTGGCACATGTGTGCATACATGCTTGTGTGTGTTTGTGTGCACATGTATGCATATTTGTGTTTGTGGATGTGTGCGTGTATATGTGTGTGTGTGCACGCGCCTGCCTAGCCCTTGGTCCAGAGGAAGAAGTAAGAAATATCAGACCCAGGAGGCCACTGGGCTCAGGCCCCGAGGATTTTCTTGACCAGGTAGCCAGGCACAGAGTAGAGGAACAGGGCGAGGAGGAGGAGCAGCAGCAGGAGCAGCAACAGTTTGAGGAGCAGCCAGCGATACGTGTGCCACAAGAAGTAGCGAGCCGACTTGAGAGGGTTCAGGAACCAGATGAAGCTCGTGTCGGGCCGGCTGGAGTATGAAGGGTAGAGAGCGCAGAGGAGGGACAGGGAGGAGAAGGGATTGGGTGTG
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TTGGGGATGGCATGGGTGCGTGGAGAGAGGAGAGGGGAAGACTGCAGAGAATGGACGGGCGGGAGATGAAGAACGCTACCAGAGGTCACAGCTGGAGCAGAAGCTGAGCAAGAAGGCTCAGGCGTGTCTCCTGCAGGGAGGCAGTCTGTGGGTGTTCAGCATCTCTCAGCTTTGGAGAGGAGATGCGTGCAGGGCTTTGGAGGCCCATGGGAGAGCCAGCGTGGCTCGCAAGGGTGGCAAAGAAGGAGGGCCCTGGGAAAAATGTAACGACTTTCACCCTTTCTTTTCCAGATCAACTCTGAACTGCAAGTTCCTCCCACTCAGGTGTTGCGGGTACCCACAAAATGAGCTGGACCGCCAAAGGCTGATGTGTTAGGGCTGGCCTGATGCTGGTGTCTGTGCCGGAGCCAGCTCATATCACCCACTGGGCCGCACCTGGGCCTGCTCTCTGGATTTTCCAGGGCTGTCTTTATAGCCTGTCGAAATAAGGAGCCAGAGGAGTTACCTGTGTCCTGCATTATGATTAAAGCCTTTTAAAGTTGTGGCTGAATCTCTTTAAAGAGGTCAGGTCTAGCAAGACCAGGCCCTTGCCCCTACCTCTGTGTCATGAGGGGACTTTGCCCCAGGCTCAGATAGTGGTGTGAGTCAGAGGCCGAGGCCAGTAGCGTGGGGCTCCTTTCTTGCTTTCAGGGGAACTGGTTTCTGTGGGTGGAGGCTAGAGCTTTTGGGCCCTTGTGGGGCCTTAAGCCTTCAGACTGGCCCCAGACCTGAAGGATTCTTTCGGTGCTTTGGGGGCCCCTGGGCCCAGGCTGGTGTGCCCTTTGGGCTATGGTGTAAGACTCCTCCTGTGGGCAGCCTGGGTGGGCAGCCCTGTGCCTGAGGCCTGCCTTGAACCCTGGGCCACCAGAGGCCACTTGAAGGGGAAAGGCCATGGGAGCCCTGCTGGTACTGAATCTGCCAGCCTAGAGAACTGCTGCCTCTGCCCCGCACCTGCGGCTGCTCCTCTCAGCTTGACCAGTGCAGACCTGTCAGCTCAGTGCTTGACTTCTTTTATTTAGAGAAAAATCACCACTCAAGAAAAGAAAAACAGCCAACAGAAACCCAGACACAGGCAGGGGCAGCACTTGACGGGCCAGCTCCCAGCTGCAGCTGAAAGGGCTGGAAGGGCAAGGGGGCAGGGGTGGGAGGACAGGGTGTGCCCGGGATGGGGAGTCCCCTCTGCTGCTTCTCACAGCTCCTCAGCTGGGCCTGGAGGCGCTGGCTGGGGCAGAGGGAGCTCTGGGAAGCCATGGAAACCCACAGGCAGGACAGGCGACCCCCTGGGAAGTGAGAGGAGCCAAGTGGAGCCCAGCAGTGGCAGAAGCAGCCGCGCTGGGACTTGTGGGCAGGGTCTGGCCCCTGCTGCGGATCAAAGACCGGTGCTATCTGCAGGGGTCACGGCGGGGATACCTTTTGCTCGTTCATTCTTTTTAAAGCCCTGGGCACTGACCCATGGTCCTTGGTTAATTTCACTAAAGCTTCAATCCTGTACTTGGAAGACCTGGGGAGGGTTTCAGGAGTCTTCCTCTGGAGCCTGGGCCTGAAGAAGGGTGGCGCCTCAGCCAGGTGGGGCAAGAGAGACCCATTCCAGGTCCCCACCCCATCCAAGGCTCCCCAGCCCACAGGCAGGGGTCAGAGGGGCGGGACTGGGCAAGCCGCAGCCTGGGGCAGTGAGGACAGGCGGCCCCCGCAAGCAGGAGGCAGGCTCGGCCCAAGGCATGAAGAGTGGACGCTGGGCTCCTCAGGCTCCCCAGGGGAGATGGGAAAGAGTCCAAGCCACTGAAAGGAAATGCGGCAGGGCTGGGGAGCGGCTGGCGGGAGCTGGCGGCCTTCATGCCCCAAGGAGCTTTTTGACCATGTAGCCAGGGAGGCTGTAGAGGAAGAGCCCCAACATGAGCAGCCCCAACAGCGCCAGCACGATCTTGATGATGAGCCACTTGTACCGGGTGCAGATGAGGTACTTGATGGACTTGAGAGGGTTGAGGAACCAGACGAAGGCCGTGTCGGGCTGGCTGGGAAGTGGAAGAGAGGAGCCGGTCAGCCAGTGGGCAGGAGCTGCCTCCCAGTGCACCCCATCCTCTGTCCTTCTGGACCCCCAAAAGCCCTGCCATGGCCCCAGCCCCAAAAGCAGTGAATGCTGGAGCCAGGGTTTAAACCCATTTCTAAGTACCCGACTTGCTGCTTACAAAACTCTATCCTCCCTGCAGCACCTTTGGGGCCCGAATCTCCTCCTAAGGCCTAGATGGGAGCTACTTGCAGCATGGGGCAGCCTTGGCCCTGCAGGCAGTTCTCATCGTTAGGAAGCTCCTGCGGTTAGCTCGTTCTATGTGCTGCCCCACGTCCTTGGTAAGACTGGTGCTTCACAACCTCTTCCTTTCTGATGGACATAAATGGCTGTTCCCACCGGGCCCTGCTGAGGGTCTGAGCAGCCCCTGTGGGGTGCAAGCTGCCCTCACCGACCTGCCCACTCTCAGGATGAAGACCCACTCCACCTTCTGTAGAGCCTCCCAGCCGAGAAGCACCTGGCCAGCCTCACTATCTGTCGTTTGTGTTATAAAAACAATAGGTTTTGTAAAATGTCAAGATACAAGTGAAAGTACTGCATATGCATTTTCAAACTACTGCCTCCCAGAGGACATGGCGTGCAGCCCCAGAGCTGAGCTCAGTATTGGTGGGGACACAGAGCCGGGGCTTGGGTGCAGGGCACCTGGTTTTGAATGGTTTTCACAGGCAAGTGAGGCACCTCTATCAACCTCGGTTTCTTCATGTATAAAATGGGGTTACAAGCAGTACCTACCTCCTGGGTTTGGCGCAATGGCACAGTGAGCCAGTGCCTGGGGAGCTCTGAGCACCTGCAGTTGGGTGTTCAGGCCATGGTGGCTATGAAATGTTTGAGTTGAATGGAATTATTATCCTGAAGGGCAGAAAACAACAGCCCTGGACTGGGAGGTCACACACGGGTGAGAGCCATTTCCAGACCTGTTGGCTAACCCTGGCCACACCCTTCCCTTTTCCCTGTCCATAGCTCAGCTTCTTTCTGCCAATGAAATTGGGTTAGAGTCGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTATCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTGGCAGTGAGCCAAGATTGTGCCACTGCACTCTAGCCTGGGCGACAGAGCGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAAAAAATTGGGTTACAGTCTGGGAGAAACATGGCTGGGAGCAGAGGTGGTGTGCAAAGAACACAGGATTGGAAATTTGGAAACCTTGGCTTGAGTCCCGGCTCTACCCTAATTTGCTGGGTAACCTTGAGCAAGCTACTTCACCTCTTTGGCTTAATGTGGAAAAGTGTAAAATAGTCATTTCTAGTTCTGAGAGTCTATTCTGTCATGAAAGCTTGAAAGTTGCTGTGCATGTTTGTGTGGGCTTAAGTGTGTGCCTGTGTGTGCTTGAGTGCATGTGTATGCACTTGTGCGTGGCACATGTGTGCATACATGCTTGTGTGTGTTTGTGTGCACATGTATGCATATTTGTGTTTGTGGATGTGTGCGTGTATATGTGTGTGTGTGCACGCGCCTGCCTAGCCCTTGGTCCAGAGGAAGAAGTAAGAAATATCAGACCCAGGAGGCCACTGGGCTCAGGCCCCGAGGATTTTCTTGACCAGGTAGCCAGGCACAGAGTAGAGGAACAGGGCGAGGAGGAGGAGCAGCAGCAGGAGCAGCAACAGTTTGAGGAGCAGCCAGCGATACGTGTGCCACAAGAAGTAGCGAGCCGACTTGAGAGGGTTCAGGAACCAGATGAAGCTCGTGTCGGGCCGGCTGGAGTATGAAGGGTAGAGAGCGCAGAGGAGGGACAGGGAGGAGAAGGGATTGGGTGTG
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Task1_train_3194
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A genetic alteration is present in OTOF (otoferlin) on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; OTOF-related disorder
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TTGGGGATGGCATGGGTGCGTGGAGAGAGGAGAGGGGAAGACTGCAGAGAATGGACGGGCGGGAGATGAAGAACGCTACCAGAGGTCACAGCTGGAGCAGAAGCTGAGCAAGAAGGCTCAGGCGTGTCTCCTGCAGGGAGGCAGTCTGTGGGTGTTCAGCATCTCTCAGCTTTGGAGAGGAGATGCGTGCAGGGCTTTGGAGGCCCATGGGAGAGCCAGCGTGGCTCGCAAGGGTGGCAAAGAAGGAGGGCCCTGGGAAAAATGTAACGACTTTCACCCTTTCTTTTCCAGATCAACTCTGAACTGCAAGTTCCTCCCACTCAGGTGTTGCGGGTACCCACAAAATGAGCTGGACCGCCAAAGGCTGATGTGTTAGGGCTGGCCTGATGCTGGTGTCTGTGCCGGAGCCAGCTCATATCACCCACTGGGCCGCACCTGGGCCTGCTCTCTGGATTTTCCAGGGCTGTCTTTATAGCCTGTCGAAATAAGGAGCCAGAGGAGTTACCTGTGTCCTGCATTATGATTAAAGCCTTTTAAAGTTGTGGCTGAATCTCTTTAAAGAGGTCAGGTCTAGCAAGACCAGGCCCTTGCCCCTACCTCTGTGTCATGAGGGGACTTTGCCCCAGGCTCAGATAGTGGTGTGAGTCAGAGGCCGAGGCCAGTAGCGTGGGGCTCCTTTCTTGCTTTCAGGGGAACTGGTTTCTGTGGGTGGAGGCTAGAGCTTTTGGGCCCTTGTGGGGCCTTAAGCCTTCAGACTGGCCCCAGACCTGAAGGATTCTTTCGGTGCTTTGGGGGCCCCTGGGCCCAGGCTGGTGTGCCCTTTGGGCTATGGTGTAAGACTCCTCCTGTGGGCAGCCTGGGTGGGCAGCCCTGTGCCTGAGGCCTGCCTTGAACCCTGGGCCACCAGAGGCCACTTGAAGGGGAAAGGCCATGGGAGCCCTGCTGGTACTGAATCTGCCAGCCTAGAGAACTGCTGCCTCTGCCCCGCACCTGCGGCTGCTCCTCTCAGCTTGACCAGTGCAGACCTGTCAGCTCAGTGCTTGACTTCTTTTATTTAGAGAAAAATCACCACTCAAGAAAAGAAAAACAGCCAACAGAAACCCAGACACAGGCAGGGGCAGCACTTGACGGGCCAGCTCCCAGCTGCAGCTGAAAGGGCTGGAAGGGCAAGGGGGCAGGGGTGGGAGGACAGGGTGTGCCCGGGATGGGGAGTCCCCTCTGCTGCTTCTCACAGCTCCTCAGCTGGGCCTGGAGGCGCTGGCTGGGGCAGAGGGAGCTCTGGGAAGCCATGGAAACCCACAGGCAGGACAGGCGACCCCCTGGGAAGTGAGAGGAGCCAAGTGGAGCCCAGCAGTGGCAGAAGCAGCCGCGCTGGGACTTGTGGGCAGGGTCTGGCCCCTGCTGCGGATCAAAGACCGGTGCTATCTGCAGGGGTCACGGCGGGGATACCTTTTGCTCGTTCATTCTTTTTAAAGCCCTGGGCACTGACCCATGGTCCTTGGTTAATTTCACTAAAGCTTCAATCCTGTACTTGGAAGACCTGGGGAGGGTTTCAGGAGTCTTCCTCTGGAGCCTGGGCCTGAAGAAGGGTGGCGCCTCAGCCAGGTGGGGCAAGAGAGACCCATTCCAGGTCCCCACCCCATCCAAGGCTCCCCAGCCCACAGGCAGGGGTCAGAGGGGCGGGACTGGGCAAGCCGCAGCCTGGGGCAGTGAGGACAGGCGGCCCCCGCAAGCAGGAGGCAGGCTCGGCCCAAGGCATGAAGAGTGGACGCTGGGCTCCTCAGGCTCCCCAGGGGAGATGGGAAAGAGTCCAAGCCACTGAAAGGAAATGCGGCAGGGCTGGGGAGCGGCTGGCGGGAGCTGGCGGCCTTCATGCCCCAAGGAGCTTTTTGACCATGTAGCCAGGGAGGCTGTAGAGGAAGAGCCCCAACATGAGCAGCCCCAACAGCGCCAGCACGATCTTGATGATGAGCCACTTGTACCGGGTGCAGATGAGGTACTTGATGGACTTGAGAGGGTTGAGGAACCAGACGAAGGCCGTGTCGGGCCGGCTGGGAAGTGGAAGAGAGGAGCCGGTCAGCCAGTGGGCAGGAGCTGCCTCCCAGTGCACCCCATCCTCTGTCCTTCTGGACCCCCAAAAGCCCTGCCATGGCCCCAGCCCCAAAAGCAGTGAATGCTGGAGCCAGGGTTTAAACCCATTTCTAAGTACCCGACTTGCTGCTTACAAAACTCTATCCTCCCTGCAGCACCTTTGGGGCCCGAATCTCCTCCTAAGGCCTAGATGGGAGCTACTTGCAGCATGGGGCAGCCTTGGCCCTGCAGGCAGTTCTCATCGTTAGGAAGCTCCTGCGGTTAGCTCGTTCTATGTGCTGCCCCACGTCCTTGGTAAGACTGGTGCTTCACAACCTCTTCCTTTCTGATGGACATAAATGGCTGTTCCCACCGGGCCCTGCTGAGGGTCTGAGCAGCCCCTGTGGGGTGCAAGCTGCCCTCACCGACCTGCCCACTCTCAGGATGAAGACCCACTCCACCTTCTGTAGAGCCTCCCAGCCGAGAAGCACCTGGCCAGCCTCACTATCTGTCGTTTGTGTTATAAAAACAATAGGTTTTGTAAAATGTCAAGATACAAGTGAAAGTACTGCATATGCATTTTCAAACTACTGCCTCCCAGAGGACATGGCGTGCAGCCCCAGAGCTGAGCTCAGTATTGGTGGGGACACAGAGCCGGGGCTTGGGTGCAGGGCACCTGGTTTTGAATGGTTTTCACAGGCAAGTGAGGCACCTCTATCAACCTCGGTTTCTTCATGTATAAAATGGGGTTACAAGCAGTACCTACCTCCTGGGTTTGGCGCAATGGCACAGTGAGCCAGTGCCTGGGGAGCTCTGAGCACCTGCAGTTGGGTGTTCAGGCCATGGTGGCTATGAAATGTTTGAGTTGAATGGAATTATTATCCTGAAGGGCAGAAAACAACAGCCCTGGACTGGGAGGTCACACACGGGTGAGAGCCATTTCCAGACCTGTTGGCTAACCCTGGCCACACCCTTCCCTTTTCCCTGTCCATAGCTCAGCTTCTTTCTGCCAATGAAATTGGGTTAGAGTCGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTATCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTGGCAGTGAGCCAAGATTGTGCCACTGCACTCTAGCCTGGGCGACAGAGCGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAAAAAATTGGGTTACAGTCTGGGAGAAACATGGCTGGGAGCAGAGGTGGTGTGCAAAGAACACAGGATTGGAAATTTGGAAACCTTGGCTTGAGTCCCGGCTCTACCCTAATTTGCTGGGTAACCTTGAGCAAGCTACTTCACCTCTTTGGCTTAATGTGGAAAAGTGTAAAATAGTCATTTCTAGTTCTGAGAGTCTATTCTGTCATGAAAGCTTGAAAGTTGCTGTGCATGTTTGTGTGGGCTTAAGTGTGTGCCTGTGTGTGCTTGAGTGCATGTGTATGCACTTGTGCGTGGCACATGTGTGCATACATGCTTGTGTGTGTTTGTGTGCACATGTATGCATATTTGTGTTTGTGGATGTGTGCGTGTATATGTGTGTGTGTGCACGCGCCTGCCTAGCCCTTGGTCCAGAGGAAGAAGTAAGAAATATCAGACCCAGGAGGCCACTGGGCTCAGGCCCCGAGGATTTTCTTGACCAGGTAGCCAGGCACAGAGTAGAGGAACAGGGCGAGGAGGAGGAGCAGCAGCAGGAGCAGCAACAGTTTGAGGAGCAGCCAGCGATACGTGTGCCACAAGAAGTAGCGAGCCGACTTGAGAGGGTTCAGGAACCAGATGAAGCTCGTGTCGGGCCGGCTGGAGTATGAAGGGTAGAGAGCGCAGAGGAGGGACAGGGAGGAGAAGGGATTGGGTGTG
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TTGGGGATGGCATGGGTGCGTGGAGAGAGGAGAGGGGAAGACTGCAGAGAATGGACGGGCGGGAGATGAAGAACGCTACCAGAGGTCACAGCTGGAGCAGAAGCTGAGCAAGAAGGCTCAGGCGTGTCTCCTGCAGGGAGGCAGTCTGTGGGTGTTCAGCATCTCTCAGCTTTGGAGAGGAGATGCGTGCAGGGCTTTGGAGGCCCATGGGAGAGCCAGCGTGGCTCGCAAGGGTGGCAAAGAAGGAGGGCCCTGGGAAAAATGTAACGACTTTCACCCTTTCTTTTCCAGATCAACTCTGAACTGCAAGTTCCTCCCACTCAGGTGTTGCGGGTACCCACAAAATGAGCTGGACCGCCAAAGGCTGATGTGTTAGGGCTGGCCTGATGCTGGTGTCTGTGCCGGAGCCAGCTCATATCACCCACTGGGCCGCACCTGGGCCTGCTCTCTGGATTTTCCAGGGCTGTCTTTATAGCCTGTCGAAATAAGGAGCCAGAGGAGTTACCTGTGTCCTGCATTATGATTAAAGCCTTTTAAAGTTGTGGCTGAATCTCTTTAAAGAGGTCAGGTCTAGCAAGACCAGGCCCTTGCCCCTACCTCTGTGTCATGAGGGGACTTTGCCCCAGGCTCAGATAGTGGTGTGAGTCAGAGGCCGAGGCCAGTAGCGTGGGGCTCCTTTCTTGCTTTCAGGGGAACTGGTTTCTGTGGGTGGAGGCTAGAGCTTTTGGGCCCTTGTGGGGCCTTAAGCCTTCAGACTGGCCCCAGACCTGAAGGATTCTTTCGGTGCTTTGGGGGCCCCTGGGCCCAGGCTGGTGTGCCCTTTGGGCTATGGTGTAAGACTCCTCCTGTGGGCAGCCTGGGTGGGCAGCCCTGTGCCTGAGGCCTGCCTTGAACCCTGGGCCACCAGAGGCCACTTGAAGGGGAAAGGCCATGGGAGCCCTGCTGGTACTGAATCTGCCAGCCTAGAGAACTGCTGCCTCTGCCCCGCACCTGCGGCTGCTCCTCTCAGCTTGACCAGTGCAGACCTGTCAGCTCAGTGCTTGACTTCTTTTATTTAGAGAAAAATCACCACTCAAGAAAAGAAAAACAGCCAACAGAAACCCAGACACAGGCAGGGGCAGCACTTGACGGGCCAGCTCCCAGCTGCAGCTGAAAGGGCTGGAAGGGCAAGGGGGCAGGGGTGGGAGGACAGGGTGTGCCCGGGATGGGGAGTCCCCTCTGCTGCTTCTCACAGCTCCTCAGCTGGGCCTGGAGGCGCTGGCTGGGGCAGAGGGAGCTCTGGGAAGCCATGGAAACCCACAGGCAGGACAGGCGACCCCCTGGGAAGTGAGAGGAGCCAAGTGGAGCCCAGCAGTGGCAGAAGCAGCCGCGCTGGGACTTGTGGGCAGGGTCTGGCCCCTGCTGCGGATCAAAGACCGGTGCTATCTGCAGGGGTCACGGCGGGGATACCTTTTGCTCGTTCATTCTTTTTAAAGCCCTGGGCACTGACCCATGGTCCTTGGTTAATTTCACTAAAGCTTCAATCCTGTACTTGGAAGACCTGGGGAGGGTTTCAGGAGTCTTCCTCTGGAGCCTGGGCCTGAAGAAGGGTGGCGCCTCAGCCAGGTGGGGCAAGAGAGACCCATTCCAGGTCCCCACCCCATCCAAGGCTCCCCAGCCCACAGGCAGGGGTCAGAGGGGCGGGACTGGGCAAGCCGCAGCCTGGGGCAGTGAGGACAGGCGGCCCCCGCAAGCAGGAGGCAGGCTCGGCCCAAGGCATGAAGAGTGGACGCTGGGCTCCTCAGGCTCCCCAGGGGAGATGGGAAAGAGTCCAAGCCACTGAAAGGAAATGCGGCAGGGCTGGGGAGCGGCTGGCGGGAGCTGGCGGCCTTCATGCCCCAAGGAGCTTTTTGACCATGTAGCCAGGGAGGCTGTAGAGGAAGAGCCCCAACATGAGCAGCCCCAACAGCGCCAGCACGATCTTGATGATGAGCCACTTGTACCGGGTGCAGATGAGGTACTTGATGGACTTGAGAGGGTTGAGGAACCAGACGAAGGCCGTGTCGGGCTGGCTGGGAAGTGGAAGAGAGGAGCCGGTCAGCCAGTGGGCAGGAGCTGCCTCCCAGTGCACCCCATCCTCTGTCCTTCTGGACCCCCAAAAGCCCTGCCATGGCCCCAGCCCCAAAAGCAGTGAATGCTGGAGCCAGGGTTTAAACCCATTTCTAAGTACCCGACTTGCTGCTTACAAAACTCTATCCTCCCTGCAGCACCTTTGGGGCCCGAATCTCCTCCTAAGGCCTAGATGGGAGCTACTTGCAGCATGGGGCAGCCTTGGCCCTGCAGGCAGTTCTCATCGTTAGGAAGCTCCTGCGGTTAGCTCGTTCTATGTGCTGCCCCACGTCCTTGGTAAGACTGGTGCTTCACAACCTCTTCCTTTCTGATGGACATAAATGGCTGTTCCCACCGGGCCCTGCTGAGGGTCTGAGCAGCCCCTGTGGGGTGCAAGCTGCCCTCACCGACCTGCCCACTCTCAGGATGAAGACCCACTCCACCTTCTGTAGAGCCTCCCAGCCGAGAAGCACCTGGCCAGCCTCACTATCTGTCGTTTGTGTTATAAAAACAATAGGTTTTGTAAAATGTCAAGATACAAGTGAAAGTACTGCATATGCATTTTCAAACTACTGCCTCCCAGAGGACATGGCGTGCAGCCCCAGAGCTGAGCTCAGTATTGGTGGGGACACAGAGCCGGGGCTTGGGTGCAGGGCACCTGGTTTTGAATGGTTTTCACAGGCAAGTGAGGCACCTCTATCAACCTCGGTTTCTTCATGTATAAAATGGGGTTACAAGCAGTACCTACCTCCTGGGTTTGGCGCAATGGCACAGTGAGCCAGTGCCTGGGGAGCTCTGAGCACCTGCAGTTGGGTGTTCAGGCCATGGTGGCTATGAAATGTTTGAGTTGAATGGAATTATTATCCTGAAGGGCAGAAAACAACAGCCCTGGACTGGGAGGTCACACACGGGTGAGAGCCATTTCCAGACCTGTTGGCTAACCCTGGCCACACCCTTCCCTTTTCCCTGTCCATAGCTCAGCTTCTTTCTGCCAATGAAATTGGGTTAGAGTCGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTATCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTGGCAGTGAGCCAAGATTGTGCCACTGCACTCTAGCCTGGGCGACAGAGCGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAAAAAATTGGGTTACAGTCTGGGAGAAACATGGCTGGGAGCAGAGGTGGTGTGCAAAGAACACAGGATTGGAAATTTGGAAACCTTGGCTTGAGTCCCGGCTCTACCCTAATTTGCTGGGTAACCTTGAGCAAGCTACTTCACCTCTTTGGCTTAATGTGGAAAAGTGTAAAATAGTCATTTCTAGTTCTGAGAGTCTATTCTGTCATGAAAGCTTGAAAGTTGCTGTGCATGTTTGTGTGGGCTTAAGTGTGTGCCTGTGTGTGCTTGAGTGCATGTGTATGCACTTGTGCGTGGCACATGTGTGCATACATGCTTGTGTGTGTTTGTGTGCACATGTATGCATATTTGTGTTTGTGGATGTGTGCGTGTATATGTGTGTGTGTGCACGCGCCTGCCTAGCCCTTGGTCCAGAGGAAGAAGTAAGAAATATCAGACCCAGGAGGCCACTGGGCTCAGGCCCCGAGGATTTTCTTGACCAGGTAGCCAGGCACAGAGTAGAGGAACAGGGCGAGGAGGAGGAGCAGCAGCAGGAGCAGCAACAGTTTGAGGAGCAGCCAGCGATACGTGTGCCACAAGAAGTAGCGAGCCGACTTGAGAGGGTTCAGGAACCAGATGAAGCTCGTGTCGGGCCGGCTGGAGTATGAAGGGTAGAGAGCGCAGAGGAGGGACAGGGAGGAGAAGGGATTGGGTGTG
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Task1_train_3195
|
Gene OTOF (otoferlin) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Inborn genetic diseases
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TTGGGGATGGCATGGGTGCGTGGAGAGAGGAGAGGGGAAGACTGCAGAGAATGGACGGGCGGGAGATGAAGAACGCTACCAGAGGTCACAGCTGGAGCAGAAGCTGAGCAAGAAGGCTCAGGCGTGTCTCCTGCAGGGAGGCAGTCTGTGGGTGTTCAGCATCTCTCAGCTTTGGAGAGGAGATGCGTGCAGGGCTTTGGAGGCCCATGGGAGAGCCAGCGTGGCTCGCAAGGGTGGCAAAGAAGGAGGGCCCTGGGAAAAATGTAACGACTTTCACCCTTTCTTTTCCAGATCAACTCTGAACTGCAAGTTCCTCCCACTCAGGTGTTGCGGGTACCCACAAAATGAGCTGGACCGCCAAAGGCTGATGTGTTAGGGCTGGCCTGATGCTGGTGTCTGTGCCGGAGCCAGCTCATATCACCCACTGGGCCGCACCTGGGCCTGCTCTCTGGATTTTCCAGGGCTGTCTTTATAGCCTGTCGAAATAAGGAGCCAGAGGAGTTACCTGTGTCCTGCATTATGATTAAAGCCTTTTAAAGTTGTGGCTGAATCTCTTTAAAGAGGTCAGGTCTAGCAAGACCAGGCCCTTGCCCCTACCTCTGTGTCATGAGGGGACTTTGCCCCAGGCTCAGATAGTGGTGTGAGTCAGAGGCCGAGGCCAGTAGCGTGGGGCTCCTTTCTTGCTTTCAGGGGAACTGGTTTCTGTGGGTGGAGGCTAGAGCTTTTGGGCCCTTGTGGGGCCTTAAGCCTTCAGACTGGCCCCAGACCTGAAGGATTCTTTCGGTGCTTTGGGGGCCCCTGGGCCCAGGCTGGTGTGCCCTTTGGGCTATGGTGTAAGACTCCTCCTGTGGGCAGCCTGGGTGGGCAGCCCTGTGCCTGAGGCCTGCCTTGAACCCTGGGCCACCAGAGGCCACTTGAAGGGGAAAGGCCATGGGAGCCCTGCTGGTACTGAATCTGCCAGCCTAGAGAACTGCTGCCTCTGCCCCGCACCTGCGGCTGCTCCTCTCAGCTTGACCAGTGCAGACCTGTCAGCTCAGTGCTTGACTTCTTTTATTTAGAGAAAAATCACCACTCAAGAAAAGAAAAACAGCCAACAGAAACCCAGACACAGGCAGGGGCAGCACTTGACGGGCCAGCTCCCAGCTGCAGCTGAAAGGGCTGGAAGGGCAAGGGGGCAGGGGTGGGAGGACAGGGTGTGCCCGGGATGGGGAGTCCCCTCTGCTGCTTCTCACAGCTCCTCAGCTGGGCCTGGAGGCGCTGGCTGGGGCAGAGGGAGCTCTGGGAAGCCATGGAAACCCACAGGCAGGACAGGCGACCCCCTGGGAAGTGAGAGGAGCCAAGTGGAGCCCAGCAGTGGCAGAAGCAGCCGCGCTGGGACTTGTGGGCAGGGTCTGGCCCCTGCTGCGGATCAAAGACCGGTGCTATCTGCAGGGGTCACGGCGGGGATACCTTTTGCTCGTTCATTCTTTTTAAAGCCCTGGGCACTGACCCATGGTCCTTGGTTAATTTCACTAAAGCTTCAATCCTGTACTTGGAAGACCTGGGGAGGGTTTCAGGAGTCTTCCTCTGGAGCCTGGGCCTGAAGAAGGGTGGCGCCTCAGCCAGGTGGGGCAAGAGAGACCCATTCCAGGTCCCCACCCCATCCAAGGCTCCCCAGCCCACAGGCAGGGGTCAGAGGGGCGGGACTGGGCAAGCCGCAGCCTGGGGCAGTGAGGACAGGCGGCCCCCGCAAGCAGGAGGCAGGCTCGGCCCAAGGCATGAAGAGTGGACGCTGGGCTCCTCAGGCTCCCCAGGGGAGATGGGAAAGAGTCCAAGCCACTGAAAGGAAATGCGGCAGGGCTGGGGAGCGGCTGGCGGGAGCTGGCGGCCTTCATGCCCCAAGGAGCTTTTTGACCATGTAGCCAGGGAGGCTGTAGAGGAAGAGCCCCAACATGAGCAGCCCCAACAGCGCCAGCACGATCTTGATGATGAGCCACTTGTACCGGGTGCAGATGAGGTACTTGATGGACTTGAGAGGGTTGAGGAACCAGACGAAGGCCGTGTCGGGCCGGCTGGGAAGTGGAAGAGAGGAGCCGGTCAGCCAGTGGGCAGGAGCTGCCTCCCAGTGCACCCCATCCTCTGTCCTTCTGGACCCCCAAAAGCCCTGCCATGGCCCCAGCCCCAAAAGCAGTGAATGCTGGAGCCAGGGTTTAAACCCATTTCTAAGTACCCGACTTGCTGCTTACAAAACTCTATCCTCCCTGCAGCACCTTTGGGGCCCGAATCTCCTCCTAAGGCCTAGATGGGAGCTACTTGCAGCATGGGGCAGCCTTGGCCCTGCAGGCAGTTCTCATCGTTAGGAAGCTCCTGCGGTTAGCTCGTTCTATGTGCTGCCCCACGTCCTTGGTAAGACTGGTGCTTCACAACCTCTTCCTTTCTGATGGACATAAATGGCTGTTCCCACCGGGCCCTGCTGAGGGTCTGAGCAGCCCCTGTGGGGTGCAAGCTGCCCTCACCGACCTGCCCACTCTCAGGATGAAGACCCACTCCACCTTCTGTAGAGCCTCCCAGCCGAGAAGCACCTGGCCAGCCTCACTATCTGTCGTTTGTGTTATAAAAACAATAGGTTTTGTAAAATGTCAAGATACAAGTGAAAGTACTGCATATGCATTTTCAAACTACTGCCTCCCAGAGGACATGGCGTGCAGCCCCAGAGCTGAGCTCAGTATTGGTGGGGACACAGAGCCGGGGCTTGGGTGCAGGGCACCTGGTTTTGAATGGTTTTCACAGGCAAGTGAGGCACCTCTATCAACCTCGGTTTCTTCATGTATAAAATGGGGTTACAAGCAGTACCTACCTCCTGGGTTTGGCGCAATGGCACAGTGAGCCAGTGCCTGGGGAGCTCTGAGCACCTGCAGTTGGGTGTTCAGGCCATGGTGGCTATGAAATGTTTGAGTTGAATGGAATTATTATCCTGAAGGGCAGAAAACAACAGCCCTGGACTGGGAGGTCACACACGGGTGAGAGCCATTTCCAGACCTGTTGGCTAACCCTGGCCACACCCTTCCCTTTTCCCTGTCCATAGCTCAGCTTCTTTCTGCCAATGAAATTGGGTTAGAGTCGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTATCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTGGCAGTGAGCCAAGATTGTGCCACTGCACTCTAGCCTGGGCGACAGAGCGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAAAAAATTGGGTTACAGTCTGGGAGAAACATGGCTGGGAGCAGAGGTGGTGTGCAAAGAACACAGGATTGGAAATTTGGAAACCTTGGCTTGAGTCCCGGCTCTACCCTAATTTGCTGGGTAACCTTGAGCAAGCTACTTCACCTCTTTGGCTTAATGTGGAAAAGTGTAAAATAGTCATTTCTAGTTCTGAGAGTCTATTCTGTCATGAAAGCTTGAAAGTTGCTGTGCATGTTTGTGTGGGCTTAAGTGTGTGCCTGTGTGTGCTTGAGTGCATGTGTATGCACTTGTGCGTGGCACATGTGTGCATACATGCTTGTGTGTGTTTGTGTGCACATGTATGCATATTTGTGTTTGTGGATGTGTGCGTGTATATGTGTGTGTGTGCACGCGCCTGCCTAGCCCTTGGTCCAGAGGAAGAAGTAAGAAATATCAGACCCAGGAGGCCACTGGGCTCAGGCCCCGAGGATTTTCTTGACCAGGTAGCCAGGCACAGAGTAGAGGAACAGGGCGAGGAGGAGGAGCAGCAGCAGGAGCAGCAACAGTTTGAGGAGCAGCCAGCGATACGTGTGCCACAAGAAGTAGCGAGCCGACTTGAGAGGGTTCAGGAACCAGATGAAGCTCGTGTCGGGCCGGCTGGAGTATGAAGGGTAGAGAGCGCAGAGGAGGGACAGGGAGGAGAAGGGATTGGGTGTG
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TTGGGGATGGCATGGGTGCGTGGAGAGAGGAGAGGGGAAGACTGCAGAGAATGGACGGGCGGGAGATGAAGAACGCTACCAGAGGTCACAGCTGGAGCAGAAGCTGAGCAAGAAGGCTCAGGCGTGTCTCCTGCAGGGAGGCAGTCTGTGGGTGTTCAGCATCTCTCAGCTTTGGAGAGGAGATGCGTGCAGGGCTTTGGAGGCCCATGGGAGAGCCAGCGTGGCTCGCAAGGGTGGCAAAGAAGGAGGGCCCTGGGAAAAATGTAACGACTTTCACCCTTTCTTTTCCAGATCAACTCTGAACTGCAAGTTCCTCCCACTCAGGTGTTGCGGGTACCCACAAAATGAGCTGGACCGCCAAAGGCTGATGTGTTAGGGCTGGCCTGATGCTGGTGTCTGTGCCGGAGCCAGCTCATATCACCCACTGGGCCGCACCTGGGCCTGCTCTCTGGATTTTCCAGGGCTGTCTTTATAGCCTGTCGAAATAAGGAGCCAGAGGAGTTACCTGTGTCCTGCATTATGATTAAAGCCTTTTAAAGTTGTGGCTGAATCTCTTTAAAGAGGTCAGGTCTAGCAAGACCAGGCCCTTGCCCCTACCTCTGTGTCATGAGGGGACTTTGCCCCAGGCTCAGATAGTGGTGTGAGTCAGAGGCCGAGGCCAGTAGCGTGGGGCTCCTTTCTTGCTTTCAGGGGAACTGGTTTCTGTGGGTGGAGGCTAGAGCTTTTGGGCCCTTGTGGGGCCTTAAGCCTTCAGACTGGCCCCAGACCTGAAGGATTCTTTCGGTGCTTTGGGGGCCCCTGGGCCCAGGCTGGTGTGCCCTTTGGGCTATGGTGTAAGACTCCTCCTGTGGGCAGCCTGGGTGGGCAGCCCTGTGCCTGAGGCCTGCCTTGAACCCTGGGCCACCAGAGGCCACTTGAAGGGGAAAGGCCATGGGAGCCCTGCTGGTACTGAATCTGCCAGCCTAGAGAACTGCTGCCTCTGCCCCGCACCTGCGGCTGCTCCTCTCAGCTTGACCAGTGCAGACCTGTCAGCTCAGTGCTTGACTTCTTTTATTTAGAGAAAAATCACCACTCAAGAAAAGAAAAACAGCCAACAGAAACCCAGACACAGGCAGGGGCAGCACTTGACGGGCCAGCTCCCAGCTGCAGCTGAAAGGGCTGGAAGGGCAAGGGGGCAGGGGTGGGAGGACAGGGTGTGCCCGGGATGGGGAGTCCCCTCTGCTGCTTCTCACAGCTCCTCAGCTGGGCCTGGAGGCGCTGGCTGGGGCAGAGGGAGCTCTGGGAAGCCATGGAAACCCACAGGCAGGACAGGCGACCCCCTGGGAAGTGAGAGGAGCCAAGTGGAGCCCAGCAGTGGCAGAAGCAGCCGCGCTGGGACTTGTGGGCAGGGTCTGGCCCCTGCTGCGGATCAAAGACCGGTGCTATCTGCAGGGGTCACGGCGGGGATACCTTTTGCTCGTTCATTCTTTTTAAAGCCCTGGGCACTGACCCATGGTCCTTGGTTAATTTCACTAAAGCTTCAATCCTGTACTTGGAAGACCTGGGGAGGGTTTCAGGAGTCTTCCTCTGGAGCCTGGGCCTGAAGAAGGGTGGCGCCTCAGCCAGGTGGGGCAAGAGAGACCCATTCCAGGTCCCCACCCCATCCAAGGCTCCCCAGCCCACAGGCAGGGGTCAGAGGGGCGGGACTGGGCAAGCCGCAGCCTGGGGCAGTGAGGACAGGCGGCCCCCGCAAGCAGGAGGCAGGCTCGGCCCAAGGCATGAAGAGTGGACGCTGGGCTCCTCAGGCTCCCCAGGGGAGATGGGAAAGAGTCCAAGCCACTGAAAGGAAATGCGGCAGGGCTGGGGAGCGGCTGGCGGGAGCTGGCGGCCTTCATGCCCCAAGGAGCTTTTTGACCATGTAGCCAGGGAGGCTGTAGAGGAAGAGCCCCAACATGAGCAGCCCCAACAGCGCCAGCACGATCTTGATGATGAGCCACTTGTACCGGGTGCAGATGAGGTACTTGATGGACTTGAGAGGGTTGAGGAACCAGACGAAGGCCGTGTCGGGCTGGCTGGGAAGTGGAAGAGAGGAGCCGGTCAGCCAGTGGGCAGGAGCTGCCTCCCAGTGCACCCCATCCTCTGTCCTTCTGGACCCCCAAAAGCCCTGCCATGGCCCCAGCCCCAAAAGCAGTGAATGCTGGAGCCAGGGTTTAAACCCATTTCTAAGTACCCGACTTGCTGCTTACAAAACTCTATCCTCCCTGCAGCACCTTTGGGGCCCGAATCTCCTCCTAAGGCCTAGATGGGAGCTACTTGCAGCATGGGGCAGCCTTGGCCCTGCAGGCAGTTCTCATCGTTAGGAAGCTCCTGCGGTTAGCTCGTTCTATGTGCTGCCCCACGTCCTTGGTAAGACTGGTGCTTCACAACCTCTTCCTTTCTGATGGACATAAATGGCTGTTCCCACCGGGCCCTGCTGAGGGTCTGAGCAGCCCCTGTGGGGTGCAAGCTGCCCTCACCGACCTGCCCACTCTCAGGATGAAGACCCACTCCACCTTCTGTAGAGCCTCCCAGCCGAGAAGCACCTGGCCAGCCTCACTATCTGTCGTTTGTGTTATAAAAACAATAGGTTTTGTAAAATGTCAAGATACAAGTGAAAGTACTGCATATGCATTTTCAAACTACTGCCTCCCAGAGGACATGGCGTGCAGCCCCAGAGCTGAGCTCAGTATTGGTGGGGACACAGAGCCGGGGCTTGGGTGCAGGGCACCTGGTTTTGAATGGTTTTCACAGGCAAGTGAGGCACCTCTATCAACCTCGGTTTCTTCATGTATAAAATGGGGTTACAAGCAGTACCTACCTCCTGGGTTTGGCGCAATGGCACAGTGAGCCAGTGCCTGGGGAGCTCTGAGCACCTGCAGTTGGGTGTTCAGGCCATGGTGGCTATGAAATGTTTGAGTTGAATGGAATTATTATCCTGAAGGGCAGAAAACAACAGCCCTGGACTGGGAGGTCACACACGGGTGAGAGCCATTTCCAGACCTGTTGGCTAACCCTGGCCACACCCTTCCCTTTTCCCTGTCCATAGCTCAGCTTCTTTCTGCCAATGAAATTGGGTTAGAGTCGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTATCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTGGCAGTGAGCCAAGATTGTGCCACTGCACTCTAGCCTGGGCGACAGAGCGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAAAAAATTGGGTTACAGTCTGGGAGAAACATGGCTGGGAGCAGAGGTGGTGTGCAAAGAACACAGGATTGGAAATTTGGAAACCTTGGCTTGAGTCCCGGCTCTACCCTAATTTGCTGGGTAACCTTGAGCAAGCTACTTCACCTCTTTGGCTTAATGTGGAAAAGTGTAAAATAGTCATTTCTAGTTCTGAGAGTCTATTCTGTCATGAAAGCTTGAAAGTTGCTGTGCATGTTTGTGTGGGCTTAAGTGTGTGCCTGTGTGTGCTTGAGTGCATGTGTATGCACTTGTGCGTGGCACATGTGTGCATACATGCTTGTGTGTGTTTGTGTGCACATGTATGCATATTTGTGTTTGTGGATGTGTGCGTGTATATGTGTGTGTGTGCACGCGCCTGCCTAGCCCTTGGTCCAGAGGAAGAAGTAAGAAATATCAGACCCAGGAGGCCACTGGGCTCAGGCCCCGAGGATTTTCTTGACCAGGTAGCCAGGCACAGAGTAGAGGAACAGGGCGAGGAGGAGGAGCAGCAGCAGGAGCAGCAACAGTTTGAGGAGCAGCCAGCGATACGTGTGCCACAAGAAGTAGCGAGCCGACTTGAGAGGGTTCAGGAACCAGATGAAGCTCGTGTCGGGCCGGCTGGAGTATGAAGGGTAGAGAGCGCAGAGGAGGGACAGGGAGGAGAAGGGATTGGGTGTG
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Task1_train_3196
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This gene mutation involves OTOF (otoferlin) on Chromosome 2. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Autosomal recessive nonsyndromic hearing loss 9
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GTGCAGATGAGGTACTTGATGGACTTGAGAGGGTTGAGGAACCAGACGAAGGCCGTGTCGGGCCGGCTGGGAAGTGGAAGAGAGGAGCCGGTCAGCCAGTGGGCAGGAGCTGCCTCCCAGTGCACCCCATCCTCTGTCCTTCTGGACCCCCAAAAGCCCTGCCATGGCCCCAGCCCCAAAAGCAGTGAATGCTGGAGCCAGGGTTTAAACCCATTTCTAAGTACCCGACTTGCTGCTTACAAAACTCTATCCTCCCTGCAGCACCTTTGGGGCCCGAATCTCCTCCTAAGGCCTAGATGGGAGCTACTTGCAGCATGGGGCAGCCTTGGCCCTGCAGGCAGTTCTCATCGTTAGGAAGCTCCTGCGGTTAGCTCGTTCTATGTGCTGCCCCACGTCCTTGGTAAGACTGGTGCTTCACAACCTCTTCCTTTCTGATGGACATAAATGGCTGTTCCCACCGGGCCCTGCTGAGGGTCTGAGCAGCCCCTGTGGGGTGCAAGCTGCCCTCACCGACCTGCCCACTCTCAGGATGAAGACCCACTCCACCTTCTGTAGAGCCTCCCAGCCGAGAAGCACCTGGCCAGCCTCACTATCTGTCGTTTGTGTTATAAAAACAATAGGTTTTGTAAAATGTCAAGATACAAGTGAAAGTACTGCATATGCATTTTCAAACTACTGCCTCCCAGAGGACATGGCGTGCAGCCCCAGAGCTGAGCTCAGTATTGGTGGGGACACAGAGCCGGGGCTTGGGTGCAGGGCACCTGGTTTTGAATGGTTTTCACAGGCAAGTGAGGCACCTCTATCAACCTCGGTTTCTTCATGTATAAAATGGGGTTACAAGCAGTACCTACCTCCTGGGTTTGGCGCAATGGCACAGTGAGCCAGTGCCTGGGGAGCTCTGAGCACCTGCAGTTGGGTGTTCAGGCCATGGTGGCTATGAAATGTTTGAGTTGAATGGAATTATTATCCTGAAGGGCAGAAAACAACAGCCCTGGACTGGGAGGTCACACACGGGTGAGAGCCATTTCCAGACCTGTTGGCTAACCCTGGCCACACCCTTCCCTTTTCCCTGTCCATAGCTCAGCTTCTTTCTGCCAATGAAATTGGGTTAGAGTCGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTATCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTGGCAGTGAGCCAAGATTGTGCCACTGCACTCTAGCCTGGGCGACAGAGCGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAAAAAATTGGGTTACAGTCTGGGAGAAACATGGCTGGGAGCAGAGGTGGTGTGCAAAGAACACAGGATTGGAAATTTGGAAACCTTGGCTTGAGTCCCGGCTCTACCCTAATTTGCTGGGTAACCTTGAGCAAGCTACTTCACCTCTTTGGCTTAATGTGGAAAAGTGTAAAATAGTCATTTCTAGTTCTGAGAGTCTATTCTGTCATGAAAGCTTGAAAGTTGCTGTGCATGTTTGTGTGGGCTTAAGTGTGTGCCTGTGTGTGCTTGAGTGCATGTGTATGCACTTGTGCGTGGCACATGTGTGCATACATGCTTGTGTGTGTTTGTGTGCACATGTATGCATATTTGTGTTTGTGGATGTGTGCGTGTATATGTGTGTGTGTGCACGCGCCTGCCTAGCCCTTGGTCCAGAGGAAGAAGTAAGAAATATCAGACCCAGGAGGCCACTGGGCTCAGGCCCCGAGGATTTTCTTGACCAGGTAGCCAGGCACAGAGTAGAGGAACAGGGCGAGGAGGAGGAGCAGCAGCAGGAGCAGCAACAGTTTGAGGAGCAGCCAGCGATACGTGTGCCACAAGAAGTAGCGAGCCGACTTGAGAGGGTTCAGGAACCAGATGAAGCTCGTGTCGGGCCGGCTGGAGTATGAAGGGTAGAGAGCGCAGAGGAGGGACAGGGAGGAGAAGGGATTGGGTGTGGCGAGGGGCCAAGACCAAGAGGGAAGCTGTCCTGGGCTGTGTGTGCAGTTCTAGGCACCCCTCTGGCCATCAAGGCTGGCCATGGCCCCAGAGGCCACCACTGGAGCTGGCTCTTCTGCAAAAGCTAGGAAGGGAAGAGCATAGTTTCTCTCCGCTAGATGGGGCCTTTCCCAGGGAAGGTCCTGCTCTCCAGTATTCCTAGCCCATCCTCTGGTTCAAAGGGACGTTGTGGGATTCAGGGTTGGCAGAGGGCAGGGAGGAGGCTCCCCTGTAATGAGGCTGTGGCCCAGGAAGAGATGGGGTGTCTGGGGATCGTCTCCTTCCTGTTCCAGCGCCTCCAAGAGCCAGAGTGGGGAGGGGCTGGGCCGGCAGGGCACTCACTTGGGTTTCTCTAGGGGGTCAGGTTCATTGCGGGCCAGGCCCACTGGGTTCTTCTCTGCCTCCTCTGCTGTCAGTAAATGCAGCTCAGCCTCCACCTTGCCCTGCAGAGGACAGACAGGTCCCAGCGTCCAGGCTGCGTGCTGGGCCCTTGGCACCCCAGCCAGTCCCAGCCCTGCCTACTGCCCGAGCAGGAAGGGGTGCGCACCGTGAGCTCAAACTCATCGTTCTCATTGCGGGCCAGGAGGGGCCACCAGCCTTTGACGCGCTTTTGCTTGAAGATGGACACGAGGGGCACGTCCACCTCCCCGGTGGCCATCTCCATGGTGCACTGCTTGGCTGTCTTTGCGCCCCGCGGGAACCGGTTCAGGTCCAGCTCGATGGCCCCTGTGGCAACCTCAGTGTCAGCTCAGAGTGAACAGGGCTGGGGTGGGGCGGGGTGGGGGTGGGGGTCTGGGCTCCTCGGCCCCTTGTTTGCTGAGTGCAGACCTCCCTGAGCCCACATCTCATCCTCCTGCCTCACTCCCAGCAACTGGCCTCAATGCAGGCATCCTCGTGGGCTTGCTAGGCAGCCCCAGCCCCCATGCTTTACTCAGGTCCTTCTTTCACCCCAGAGGGTCTCTCCTGGGGTCTCCCCTGCCACTCCCTGCCATGCATCCATTCTGTCAAAGTCCTGCTAATCCCACAAGCTTTTGCAGATGCAGATTAGAGTTTTAGGGAGAATCCCTGCTTTACAGAGAAGCAACCTGAGGCCCAGGGAGGTTTCCCGACTCCCTTAGGGAGCCTCTCCCCTCCCCCATCATCACTGACTGCCCCCTCCTTGGTGTGTCCAAAGCTTGTTGTCAGCCTGGTTATGACACTGAGAACATCTGCCTAGGGACGGTTAGGTGGGTCCTTGGGGGCGGAACCCCGTCGGACACCCCTGGCTCTGATGGACTGGAAGCAATGACCCCTTGTCCCCCCAAGGCAGGGCTCTCCCTGTCCCCGCCAACCCGGCCCCTGCCTCTTCTCAGTTCTGGATCCTGAACCCCCATCCCTGCCCTGCTCTGCACCCAGGAAGTCGTCAGCGGAGAAGTGGTCCGCATCCCAGATCTGCAGGGTGAGCCGCGCGGGGATCTTGTACTCGGTCTCGTCCCAGGAGAACATGGACTCCTTCTTGGAGATGACGATCTTCTCCTCCGCCGCCAGGTAGTCGAAGGGGAACAGGTAGCGCCAGTTGAAGTTGCCCTCGCCAGTGAGGGAGTGGTAGTGGACGTCTGTGTCCTGCTTGTCCTCCTGCTGGCCCTTCAGCCACCTGTGGGCGCCACATCTCCAGACCCGCAGCCAGGCTGGTGGGGCCTCTCCCACCCACAGCCACCTTCCCTCTGCCTCCTCTCCTGCCCCCCGGGAAGCAAGCCCCACCCAGCTCAGTCCCTCCCATGCAGGGACTGCTCACCCACCCCCTCACGAAGATGTCACTGGACTTCTCCCCTGTGAAGAAGTCGTCGTCCTCCAAGACCACCTCATCTGTGTTCCAGATGATGACCCGCAGCTCGTACCTGGGCCCAGGGAGAGAAGGCTGGTTAGCAGCCCCAGGTGGGGGTTATGCCAGGGTGCCAGGGCTGGGA
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GTGCAGATGAGGTACTTGATGGACTTGAGAGGGTTGAGGAACCAGACGAAGGCCGTGTCGGGCCGGCTGGGAAGTGGAAGAGAGGAGCCGGTCAGCCAGTGGGCAGGAGCTGCCTCCCAGTGCACCCCATCCTCTGTCCTTCTGGACCCCCAAAAGCCCTGCCATGGCCCCAGCCCCAAAAGCAGTGAATGCTGGAGCCAGGGTTTAAACCCATTTCTAAGTACCCGACTTGCTGCTTACAAAACTCTATCCTCCCTGCAGCACCTTTGGGGCCCGAATCTCCTCCTAAGGCCTAGATGGGAGCTACTTGCAGCATGGGGCAGCCTTGGCCCTGCAGGCAGTTCTCATCGTTAGGAAGCTCCTGCGGTTAGCTCGTTCTATGTGCTGCCCCACGTCCTTGGTAAGACTGGTGCTTCACAACCTCTTCCTTTCTGATGGACATAAATGGCTGTTCCCACCGGGCCCTGCTGAGGGTCTGAGCAGCCCCTGTGGGGTGCAAGCTGCCCTCACCGACCTGCCCACTCTCAGGATGAAGACCCACTCCACCTTCTGTAGAGCCTCCCAGCCGAGAAGCACCTGGCCAGCCTCACTATCTGTCGTTTGTGTTATAAAAACAATAGGTTTTGTAAAATGTCAAGATACAAGTGAAAGTACTGCATATGCATTTTCAAACTACTGCCTCCCAGAGGACATGGCGTGCAGCCCCAGAGCTGAGCTCAGTATTGGTGGGGACACAGAGCCGGGGCTTGGGTGCAGGGCACCTGGTTTTGAATGGTTTTCACAGGCAAGTGAGGCACCTCTATCAACCTCGGTTTCTTCATGTATAAAATGGGGTTACAAGCAGTACCTACCTCCTGGGTTTGGCGCAATGGCACAGTGAGCCAGTGCCTGGGGAGCTCTGAGCACCTGCAGTTGGGTGTTCAGGCCATGGTGGCTATGAAATGTTTGAGTTGAATGGAATTATTATCCTGAAGGGCAGAAAACAACAGCCCTGGACTGGGAGGTCACACACGGGTGAGAGCCATTTCCAGACCTGTTGGCTAACCCTGGCCACACCCTTCCCTTTTCCCTGTCCATAGCTCAGCTTCTTTCTGCCAATGAAATTGGGTTAGAGTCGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTATCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTGGCAGTGAGCCAAGATTGTGCCACTGCACTCTAGCCTGGGCGACAGAGCGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAAAAAATTGGGTTACAGTCTGGGAGAAACATGGCTGGGAGCAGAGGTGGTGTGCAAAGAACACAGGATTGGAAATTTGGAAACCTTGGCTTGAGTCCCGGCTCTACCCTAATTTGCTGGGTAACCTTGAGCAAGCTACTTCACCTCTTTGGCTTAATGTGGAAAAGTGTAAAATAGTCATTTCTAGTTCTGAGAGTCTATTCTGTCATGAAAGCTTGAAAGTTGCTGTGCATGTTTGTGTGGGCTTAAGTGTGTGCCTGTGTGTGCTTGAGTGCATGTGTATGCACTTGTGCGTGGCACATGTGTGCATACATGCTTGTGTGTGTTTGTGTGCACATGTATGCATATTTGTGTTTGTGGATGTGTGCGTGTATATGTGTGTGTGTGCACGCGCCTGCCTAGCCCTTGGTCCAGAGGAAGAAGTAAGAAATATCAGACCCAGGAGGCCACTGGGCTCAGGCCCCGAGGATTTTCTTGACCAGGTAGCCAGGCACAGAGTAGAGGAACAGGGCGAGGAGGAGGAGCAGCAGCAGGAGCAGCAACAGTTTGAGGAGCAGCCAGCGATACGTGTGCCACAAGAAGTAGCGAGCCGACTTGAGAGGGTTCAGGAACCAGATGAAGCTCGTGTCGGGCTGGCTGGAGTATGAAGGGTAGAGAGCGCAGAGGAGGGACAGGGAGGAGAAGGGATTGGGTGTGGCGAGGGGCCAAGACCAAGAGGGAAGCTGTCCTGGGCTGTGTGTGCAGTTCTAGGCACCCCTCTGGCCATCAAGGCTGGCCATGGCCCCAGAGGCCACCACTGGAGCTGGCTCTTCTGCAAAAGCTAGGAAGGGAAGAGCATAGTTTCTCTCCGCTAGATGGGGCCTTTCCCAGGGAAGGTCCTGCTCTCCAGTATTCCTAGCCCATCCTCTGGTTCAAAGGGACGTTGTGGGATTCAGGGTTGGCAGAGGGCAGGGAGGAGGCTCCCCTGTAATGAGGCTGTGGCCCAGGAAGAGATGGGGTGTCTGGGGATCGTCTCCTTCCTGTTCCAGCGCCTCCAAGAGCCAGAGTGGGGAGGGGCTGGGCCGGCAGGGCACTCACTTGGGTTTCTCTAGGGGGTCAGGTTCATTGCGGGCCAGGCCCACTGGGTTCTTCTCTGCCTCCTCTGCTGTCAGTAAATGCAGCTCAGCCTCCACCTTGCCCTGCAGAGGACAGACAGGTCCCAGCGTCCAGGCTGCGTGCTGGGCCCTTGGCACCCCAGCCAGTCCCAGCCCTGCCTACTGCCCGAGCAGGAAGGGGTGCGCACCGTGAGCTCAAACTCATCGTTCTCATTGCGGGCCAGGAGGGGCCACCAGCCTTTGACGCGCTTTTGCTTGAAGATGGACACGAGGGGCACGTCCACCTCCCCGGTGGCCATCTCCATGGTGCACTGCTTGGCTGTCTTTGCGCCCCGCGGGAACCGGTTCAGGTCCAGCTCGATGGCCCCTGTGGCAACCTCAGTGTCAGCTCAGAGTGAACAGGGCTGGGGTGGGGCGGGGTGGGGGTGGGGGTCTGGGCTCCTCGGCCCCTTGTTTGCTGAGTGCAGACCTCCCTGAGCCCACATCTCATCCTCCTGCCTCACTCCCAGCAACTGGCCTCAATGCAGGCATCCTCGTGGGCTTGCTAGGCAGCCCCAGCCCCCATGCTTTACTCAGGTCCTTCTTTCACCCCAGAGGGTCTCTCCTGGGGTCTCCCCTGCCACTCCCTGCCATGCATCCATTCTGTCAAAGTCCTGCTAATCCCACAAGCTTTTGCAGATGCAGATTAGAGTTTTAGGGAGAATCCCTGCTTTACAGAGAAGCAACCTGAGGCCCAGGGAGGTTTCCCGACTCCCTTAGGGAGCCTCTCCCCTCCCCCATCATCACTGACTGCCCCCTCCTTGGTGTGTCCAAAGCTTGTTGTCAGCCTGGTTATGACACTGAGAACATCTGCCTAGGGACGGTTAGGTGGGTCCTTGGGGGCGGAACCCCGTCGGACACCCCTGGCTCTGATGGACTGGAAGCAATGACCCCTTGTCCCCCCAAGGCAGGGCTCTCCCTGTCCCCGCCAACCCGGCCCCTGCCTCTTCTCAGTTCTGGATCCTGAACCCCCATCCCTGCCCTGCTCTGCACCCAGGAAGTCGTCAGCGGAGAAGTGGTCCGCATCCCAGATCTGCAGGGTGAGCCGCGCGGGGATCTTGTACTCGGTCTCGTCCCAGGAGAACATGGACTCCTTCTTGGAGATGACGATCTTCTCCTCCGCCGCCAGGTAGTCGAAGGGGAACAGGTAGCGCCAGTTGAAGTTGCCCTCGCCAGTGAGGGAGTGGTAGTGGACGTCTGTGTCCTGCTTGTCCTCCTGCTGGCCCTTCAGCCACCTGTGGGCGCCACATCTCCAGACCCGCAGCCAGGCTGGTGGGGCCTCTCCCACCCACAGCCACCTTCCCTCTGCCTCCTCTCCTGCCCCCCGGGAAGCAAGCCCCACCCAGCTCAGTCCCTCCCATGCAGGGACTGCTCACCCACCCCCTCACGAAGATGTCACTGGACTTCTCCCCTGTGAAGAAGTCGTCGTCCTCCAAGACCACCTCATCTGTGTTCCAGATGATGACCCGCAGCTCGTACCTGGGCCCAGGGAGAGAAGGCTGGTTAGCAGCCCCAGGTGGGGGTTATGCCAGGGTGCCAGGGCTGGGA
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Task1_train_3197
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This mutation is located in gene OTOF (otoferlin) on Chromosome 2. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Autosomal recessive nonsyndromic hearing loss 9
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CTTCACCTCTTTGGCTTAATGTGGAAAAGTGTAAAATAGTCATTTCTAGTTCTGAGAGTCTATTCTGTCATGAAAGCTTGAAAGTTGCTGTGCATGTTTGTGTGGGCTTAAGTGTGTGCCTGTGTGTGCTTGAGTGCATGTGTATGCACTTGTGCGTGGCACATGTGTGCATACATGCTTGTGTGTGTTTGTGTGCACATGTATGCATATTTGTGTTTGTGGATGTGTGCGTGTATATGTGTGTGTGTGCACGCGCCTGCCTAGCCCTTGGTCCAGAGGAAGAAGTAAGAAATATCAGACCCAGGAGGCCACTGGGCTCAGGCCCCGAGGATTTTCTTGACCAGGTAGCCAGGCACAGAGTAGAGGAACAGGGCGAGGAGGAGGAGCAGCAGCAGGAGCAGCAACAGTTTGAGGAGCAGCCAGCGATACGTGTGCCACAAGAAGTAGCGAGCCGACTTGAGAGGGTTCAGGAACCAGATGAAGCTCGTGTCGGGCCGGCTGGAGTATGAAGGGTAGAGAGCGCAGAGGAGGGACAGGGAGGAGAAGGGATTGGGTGTGGCGAGGGGCCAAGACCAAGAGGGAAGCTGTCCTGGGCTGTGTGTGCAGTTCTAGGCACCCCTCTGGCCATCAAGGCTGGCCATGGCCCCAGAGGCCACCACTGGAGCTGGCTCTTCTGCAAAAGCTAGGAAGGGAAGAGCATAGTTTCTCTCCGCTAGATGGGGCCTTTCCCAGGGAAGGTCCTGCTCTCCAGTATTCCTAGCCCATCCTCTGGTTCAAAGGGACGTTGTGGGATTCAGGGTTGGCAGAGGGCAGGGAGGAGGCTCCCCTGTAATGAGGCTGTGGCCCAGGAAGAGATGGGGTGTCTGGGGATCGTCTCCTTCCTGTTCCAGCGCCTCCAAGAGCCAGAGTGGGGAGGGGCTGGGCCGGCAGGGCACTCACTTGGGTTTCTCTAGGGGGTCAGGTTCATTGCGGGCCAGGCCCACTGGGTTCTTCTCTGCCTCCTCTGCTGTCAGTAAATGCAGCTCAGCCTCCACCTTGCCCTGCAGAGGACAGACAGGTCCCAGCGTCCAGGCTGCGTGCTGGGCCCTTGGCACCCCAGCCAGTCCCAGCCCTGCCTACTGCCCGAGCAGGAAGGGGTGCGCACCGTGAGCTCAAACTCATCGTTCTCATTGCGGGCCAGGAGGGGCCACCAGCCTTTGACGCGCTTTTGCTTGAAGATGGACACGAGGGGCACGTCCACCTCCCCGGTGGCCATCTCCATGGTGCACTGCTTGGCTGTCTTTGCGCCCCGCGGGAACCGGTTCAGGTCCAGCTCGATGGCCCCTGTGGCAACCTCAGTGTCAGCTCAGAGTGAACAGGGCTGGGGTGGGGCGGGGTGGGGGTGGGGGTCTGGGCTCCTCGGCCCCTTGTTTGCTGAGTGCAGACCTCCCTGAGCCCACATCTCATCCTCCTGCCTCACTCCCAGCAACTGGCCTCAATGCAGGCATCCTCGTGGGCTTGCTAGGCAGCCCCAGCCCCCATGCTTTACTCAGGTCCTTCTTTCACCCCAGAGGGTCTCTCCTGGGGTCTCCCCTGCCACTCCCTGCCATGCATCCATTCTGTCAAAGTCCTGCTAATCCCACAAGCTTTTGCAGATGCAGATTAGAGTTTTAGGGAGAATCCCTGCTTTACAGAGAAGCAACCTGAGGCCCAGGGAGGTTTCCCGACTCCCTTAGGGAGCCTCTCCCCTCCCCCATCATCACTGACTGCCCCCTCCTTGGTGTGTCCAAAGCTTGTTGTCAGCCTGGTTATGACACTGAGAACATCTGCCTAGGGACGGTTAGGTGGGTCCTTGGGGGCGGAACCCCGTCGGACACCCCTGGCTCTGATGGACTGGAAGCAATGACCCCTTGTCCCCCCAAGGCAGGGCTCTCCCTGTCCCCGCCAACCCGGCCCCTGCCTCTTCTCAGTTCTGGATCCTGAACCCCCATCCCTGCCCTGCTCTGCACCCAGGAAGTCGTCAGCGGAGAAGTGGTCCGCATCCCAGATCTGCAGGGTGAGCCGCGCGGGGATCTTGTACTCGGTCTCGTCCCAGGAGAACATGGACTCCTTCTTGGAGATGACGATCTTCTCCTCCGCCGCCAGGTAGTCGAAGGGGAACAGGTAGCGCCAGTTGAAGTTGCCCTCGCCAGTGAGGGAGTGGTAGTGGACGTCTGTGTCCTGCTTGTCCTCCTGCTGGCCCTTCAGCCACCTGTGGGCGCCACATCTCCAGACCCGCAGCCAGGCTGGTGGGGCCTCTCCCACCCACAGCCACCTTCCCTCTGCCTCCTCTCCTGCCCCCCGGGAAGCAAGCCCCACCCAGCTCAGTCCCTCCCATGCAGGGACTGCTCACCCACCCCCTCACGAAGATGTCACTGGACTTCTCCCCTGTGAAGAAGTCGTCGTCCTCCAAGACCACCTCATCTGTGTTCCAGATGATGACCCGCAGCTCGTACCTGGGCCCAGGGAGAGAAGGCTGGTTAGCAGCCCCAGGTGGGGGTTATGCCAGGGTGCCAGGGCTGGGATGGGGCAGGCGGAGAGAAGCCCTGGGGTCTTGGGGTCAGCACAGGGCCTGGGCCAGGCTGGGGCTGGAGGAGTGGTTTGGGGTTGGGGGAGCAGAGGCATGAGTGAGAAGGCCCACCAGGCACATGGCTGTGGGCGGTGGGGGTGGGGTGAGGGGAGGAAGCCACCCTCTGTCTCAGATGCTAGTTCCAAGAGAAGTCTGCATTTAAGCCCAGTAGCCAGCAATGGAAGCCCATGGAAGCTGTATGTCCCTGTCCCCAAAGAGGATTTTCCCCTCAAGGTTTAATTGTAATTATGAATGATGTAGTTCATTTCAATCATTAAGAGTGAGGCTGAGTCATTCACTAAAAATTGATCTGAGCATGGCTCTCCTGGGATTGCAGACAGGGCTGCGAGCCCAGAGTGGCCCAGTGAGTTGGGTGCCCCCTAATGACAGGCCCTGGAACAGCTGACTCATGGCCTCAGGTTTCCAGGACATTCCTGGCAGAATTTGCTGCATGATTTGCTGGGGCCAGCGCCAAATGGAAATGCAGGGTCACTTGTCATAAAGAATTTCAAGATGGCAACATAGGAGCATGGAAACAAGAGTGGGACCCTGTGTGGCTTCCTCCATCCCTGAAGCTGGCCCTGAATCCAGTCACTGTCTGACAGCTGGACTTGAACCTGCCGCTTTATGGATGGGAAACCCGGGTTCTTTTCACTCTACCACCTCCTGCCTCTTCCAGGCACTCACTCCTGGATTCATCACTGGCAGGCACTCCAAAGAAAACTTGGCGGAACATCACACTAGCCTGGATGTGAGGATGACGCAGGGCCGGCTCCCAGGGGTTCTGTGTGTTGTGAAGGAGTGCGTCAGTGTGGGCATGTGTGTGGGTGTCCGTGGGAGTGCTATGCTGTGTGTGTGTGTGTGCATGAGATGCATGTGTATGGGCGCGTAGACCGTGTAGATACAATGCACCGGAGTGTGCTGTGTGGGGCTTGTCTCGCTCACTGATGCAGGGTGGAAGGCGTTGTCCTGCCTTAGCACGTGGGGACTCTCCAGGGCAGGCCCTAAACTCTATCGATTGGTTGGTCAGTTTCTCCCCTATAAGGCCCAGTGGCCACACCCAGGCCCCAGGGATGCCAACTGGCCAAGGCCATCTGGACCTGAGCCCCCCGCAGGAAGGGTTGGGCCGTGGTGGGAAGTGGGTGGGGTGGGCCGGAAGGGAGTAGCGCTGGGCCCCAGGCCGCTCACTTCTTGGGCTTCCGAGGTGAGATGTCCAGAGGCGTCCCAGGGGCTGGCATGTCCATGGGGAACATGTCCACCCACAGCTCCAGGCGGCCCTGAGGAAGAGGGTTGTGGCAGATCTCCCAGGGCCTTCTCCCTCTGCCCAGGAAGATCAGCTCTCCTCTCCCTCCTAACCTTTGTTCTGTCAAGGACCCAGTTCATCAGTTTCCATCTTTGGATGCCAGGAATTCCTATGATGTCACCAATAGCCAATCACAGCTTCTGAGGGAGACAACCCAGGTCTCTGCCTGAGCTGATGTAATTCTCACTCAAAGCAAAGACCCTTGC
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CTTCACCTCTTTGGCTTAATGTGGAAAAGTGTAAAATAGTCATTTCTAGTTCTGAGAGTCTATTCTGTCATGAAAGCTTGAAAGTTGCTGTGCATGTTTGTGTGGGCTTAAGTGTGTGCCTGTGTGTGCTTGAGTGCATGTGTATGCACTTGTGCGTGGCACATGTGTGCATACATGCTTGTGTGTGTTTGTGTGCACATGTATGCATATTTGTGTTTGTGGATGTGTGCGTGTATATGTGTGTGTGTGCACGCGCCTGCCTAGCCCTTGGTCCAGAGGAAGAAGTAAGAAATATCAGACCCAGGAGGCCACTGGGCTCAGGCCCCGAGGATTTTCTTGACCAGGTAGCCAGGCACAGAGTAGAGGAACAGGGCGAGGAGGAGGAGCAGCAGCAGGAGCAGCAACAGTTTGAGGAGCAGCCAGCGATACGTGTGCCACAAGAAGTAGCGAGCCGACTTGAGAGGGTTCAGGAACCAGATGAAGCTCGTGTCGGGCCGGCTGGAGTATGAAGGGTAGAGAGCGCAGAGGAGGGACAGGGAGGAGAAGGGATTGGGTGTGGCGAGGGGCCAAGACCAAGAGGGAAGCTGTCCTGGGCTGTGTGTGCAGTTCTAGGCACCCCTCTGGCCATCAAGGCTGGCCATGGCCCCAGAGGCCACCACTGGAGCTGGCTCTTCTGCAAAAGCTAGGAAGGGAAGAGCATAGTTTCTCTCCGCTAGATGGGGCCTTTCCCAGGGAAGGTCCTGCTCTCCAGTATTCCTAGCCCATCCTCTGGTTCAAAGGGACGTTGTGGGATTCAGGGTTGGCAGAGGGCAGGGAGGAGGCTCCCCTGTAATGAGGCTGTGGCCCAGGAAGAGATGGGGTGTCTGGGGATCGTCTCCTTCCTGTTCCAGCGCCTCCAAGAGCCAGAGTGGGGAGGGGCTGGGCCGGCAGGGCACTCACTTGGGTTTCTCTAGGGGGTCAGGTTCATTGCGGGCCAGGCCCACTGGGTTCTTCTCTGCCTCCTCTGCTGTCAGTAAATGCAGCTCAGCCTCCACCTTGCCCTGCAGAGGACAGACAGGTCCCAGCGTCCAGGCTGCGTGCTGGGCCCTTGGCACCCCAGCCAGTCCCAGCCCTGCCTACTGCCCGAGCAGGAAGGGGTGCGCACCGTGAGCTCAAACTCATCGTTCTCATTGCGGGCCAGGAGGGGCCACCAGCCTTTGACGCGCTTTTGCTTGAAGATGGACACGAGGGGCACGTCCACCTCCCCGGTGGCCATCTCCATGGTGCACTGCTTGGCTGTCTTTGCGCCCCGCGGGAACCGGTTCAGGTCCAGCTCGATGGCCCCTGTGGCAACCTCAGTGTCAGCTCAGAGTGAACAGGGCTGGGGTGGGGCGGGGTGGGGGTGGGGGTCTGGGCTCCTCGGCCCCTTGTTTGCTGAGTGCAGACCTCCCTGAGCCCACATCTCATCCTCCTGCCTCACTCCCAGCAACTGGCCTCAATGCAGGCATCCTCGTGGGCTTGCTAGGCAGCCCCAGCCCCCATGCTTTACTCAGGTCCTTCTTTCACCCCAGAGGGTCTCTCCTGGGGTCTCCCCTGCCACTCCCTGCCATGCATCCATTCTGTCAAAGTCCTGCTAATCCCACAAGCTTTTGCAGATGCAGATTAGAGTTTTAGGGAGAATCCCTGCTTTACAGAGAAGCAACCTGAGGCCCAGGGAGGTTTCCCGACTCCCTTAGGGAGCCTCTCCCCTCCCCCATCATCACTGACTGCCCCCTCCTTGGTGTGTCCAAAGCTTGTTGTCAGCCTGGTTATGACACTGAGAACATCTGCCTAGGGACGGTTAGGTGGGTCCTTGGGGGCGGAACCCCGTCGGACACCCCTGGCTCTGATGGACTGGAAGCAATGACCCCTTGTCCCCCCAAGGCAGGGCTCTCCCTGTCCCCGCCAACCCGGCCCCTGCCTCTTCTCAGTTCTGGATCCTGAACCCCCATCCCTGCCCTGCTCTGCACCCAGGAAGTCGTCAGCGGAGAAGTGGTCCGCATCCCAGATCTGCAGGGTGAGCCGCGCGGCGATCTTGTACTCGGTCTCGTCCCAGGAGAACATGGACTCCTTCTTGGAGATGACGATCTTCTCCTCCGCCGCCAGGTAGTCGAAGGGGAACAGGTAGCGCCAGTTGAAGTTGCCCTCGCCAGTGAGGGAGTGGTAGTGGACGTCTGTGTCCTGCTTGTCCTCCTGCTGGCCCTTCAGCCACCTGTGGGCGCCACATCTCCAGACCCGCAGCCAGGCTGGTGGGGCCTCTCCCACCCACAGCCACCTTCCCTCTGCCTCCTCTCCTGCCCCCCGGGAAGCAAGCCCCACCCAGCTCAGTCCCTCCCATGCAGGGACTGCTCACCCACCCCCTCACGAAGATGTCACTGGACTTCTCCCCTGTGAAGAAGTCGTCGTCCTCCAAGACCACCTCATCTGTGTTCCAGATGATGACCCGCAGCTCGTACCTGGGCCCAGGGAGAGAAGGCTGGTTAGCAGCCCCAGGTGGGGGTTATGCCAGGGTGCCAGGGCTGGGATGGGGCAGGCGGAGAGAAGCCCTGGGGTCTTGGGGTCAGCACAGGGCCTGGGCCAGGCTGGGGCTGGAGGAGTGGTTTGGGGTTGGGGGAGCAGAGGCATGAGTGAGAAGGCCCACCAGGCACATGGCTGTGGGCGGTGGGGGTGGGGTGAGGGGAGGAAGCCACCCTCTGTCTCAGATGCTAGTTCCAAGAGAAGTCTGCATTTAAGCCCAGTAGCCAGCAATGGAAGCCCATGGAAGCTGTATGTCCCTGTCCCCAAAGAGGATTTTCCCCTCAAGGTTTAATTGTAATTATGAATGATGTAGTTCATTTCAATCATTAAGAGTGAGGCTGAGTCATTCACTAAAAATTGATCTGAGCATGGCTCTCCTGGGATTGCAGACAGGGCTGCGAGCCCAGAGTGGCCCAGTGAGTTGGGTGCCCCCTAATGACAGGCCCTGGAACAGCTGACTCATGGCCTCAGGTTTCCAGGACATTCCTGGCAGAATTTGCTGCATGATTTGCTGGGGCCAGCGCCAAATGGAAATGCAGGGTCACTTGTCATAAAGAATTTCAAGATGGCAACATAGGAGCATGGAAACAAGAGTGGGACCCTGTGTGGCTTCCTCCATCCCTGAAGCTGGCCCTGAATCCAGTCACTGTCTGACAGCTGGACTTGAACCTGCCGCTTTATGGATGGGAAACCCGGGTTCTTTTCACTCTACCACCTCCTGCCTCTTCCAGGCACTCACTCCTGGATTCATCACTGGCAGGCACTCCAAAGAAAACTTGGCGGAACATCACACTAGCCTGGATGTGAGGATGACGCAGGGCCGGCTCCCAGGGGTTCTGTGTGTTGTGAAGGAGTGCGTCAGTGTGGGCATGTGTGTGGGTGTCCGTGGGAGTGCTATGCTGTGTGTGTGTGTGTGCATGAGATGCATGTGTATGGGCGCGTAGACCGTGTAGATACAATGCACCGGAGTGTGCTGTGTGGGGCTTGTCTCGCTCACTGATGCAGGGTGGAAGGCGTTGTCCTGCCTTAGCACGTGGGGACTCTCCAGGGCAGGCCCTAAACTCTATCGATTGGTTGGTCAGTTTCTCCCCTATAAGGCCCAGTGGCCACACCCAGGCCCCAGGGATGCCAACTGGCCAAGGCCATCTGGACCTGAGCCCCCCGCAGGAAGGGTTGGGCCGTGGTGGGAAGTGGGTGGGGTGGGCCGGAAGGGAGTAGCGCTGGGCCCCAGGCCGCTCACTTCTTGGGCTTCCGAGGTGAGATGTCCAGAGGCGTCCCAGGGGCTGGCATGTCCATGGGGAACATGTCCACCCACAGCTCCAGGCGGCCCTGAGGAAGAGGGTTGTGGCAGATCTCCCAGGGCCTTCTCCCTCTGCCCAGGAAGATCAGCTCTCCTCTCCCTCCTAACCTTTGTTCTGTCAAGGACCCAGTTCATCAGTTTCCATCTTTGGATGCCAGGAATTCCTATGATGTCACCAATAGCCAATCACAGCTTCTGAGGGAGACAACCCAGGTCTCTGCCTGAGCTGATGTAATTCTCACTCAAAGCAAAGACCCTTGC
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Task1_train_3198
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Here is a genetic alteration in OTOF (otoferlin) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Bilateral sensorineural hearing impairment
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GCCCCACCCAGCTCAGTCCCTCCCATGCAGGGACTGCTCACCCACCCCCTCACGAAGATGTCACTGGACTTCTCCCCTGTGAAGAAGTCGTCGTCCTCCAAGACCACCTCATCTGTGTTCCAGATGATGACCCGCAGCTCGTACCTGGGCCCAGGGAGAGAAGGCTGGTTAGCAGCCCCAGGTGGGGGTTATGCCAGGGTGCCAGGGCTGGGATGGGGCAGGCGGAGAGAAGCCCTGGGGTCTTGGGGTCAGCACAGGGCCTGGGCCAGGCTGGGGCTGGAGGAGTGGTTTGGGGTTGGGGGAGCAGAGGCATGAGTGAGAAGGCCCACCAGGCACATGGCTGTGGGCGGTGGGGGTGGGGTGAGGGGAGGAAGCCACCCTCTGTCTCAGATGCTAGTTCCAAGAGAAGTCTGCATTTAAGCCCAGTAGCCAGCAATGGAAGCCCATGGAAGCTGTATGTCCCTGTCCCCAAAGAGGATTTTCCCCTCAAGGTTTAATTGTAATTATGAATGATGTAGTTCATTTCAATCATTAAGAGTGAGGCTGAGTCATTCACTAAAAATTGATCTGAGCATGGCTCTCCTGGGATTGCAGACAGGGCTGCGAGCCCAGAGTGGCCCAGTGAGTTGGGTGCCCCCTAATGACAGGCCCTGGAACAGCTGACTCATGGCCTCAGGTTTCCAGGACATTCCTGGCAGAATTTGCTGCATGATTTGCTGGGGCCAGCGCCAAATGGAAATGCAGGGTCACTTGTCATAAAGAATTTCAAGATGGCAACATAGGAGCATGGAAACAAGAGTGGGACCCTGTGTGGCTTCCTCCATCCCTGAAGCTGGCCCTGAATCCAGTCACTGTCTGACAGCTGGACTTGAACCTGCCGCTTTATGGATGGGAAACCCGGGTTCTTTTCACTCTACCACCTCCTGCCTCTTCCAGGCACTCACTCCTGGATTCATCACTGGCAGGCACTCCAAAGAAAACTTGGCGGAACATCACACTAGCCTGGATGTGAGGATGACGCAGGGCCGGCTCCCAGGGGTTCTGTGTGTTGTGAAGGAGTGCGTCAGTGTGGGCATGTGTGTGGGTGTCCGTGGGAGTGCTATGCTGTGTGTGTGTGTGTGCATGAGATGCATGTGTATGGGCGCGTAGACCGTGTAGATACAATGCACCGGAGTGTGCTGTGTGGGGCTTGTCTCGCTCACTGATGCAGGGTGGAAGGCGTTGTCCTGCCTTAGCACGTGGGGACTCTCCAGGGCAGGCCCTAAACTCTATCGATTGGTTGGTCAGTTTCTCCCCTATAAGGCCCAGTGGCCACACCCAGGCCCCAGGGATGCCAACTGGCCAAGGCCATCTGGACCTGAGCCCCCCGCAGGAAGGGTTGGGCCGTGGTGGGAAGTGGGTGGGGTGGGCCGGAAGGGAGTAGCGCTGGGCCCCAGGCCGCTCACTTCTTGGGCTTCCGAGGTGAGATGTCCAGAGGCGTCCCAGGGGCTGGCATGTCCATGGGGAACATGTCCACCCACAGCTCCAGGCGGCCCTGAGGAAGAGGGTTGTGGCAGATCTCCCAGGGCCTTCTCCCTCTGCCCAGGAAGATCAGCTCTCCTCTCCCTCCTAACCTTTGTTCTGTCAAGGACCCAGTTCATCAGTTTCCATCTTTGGATGCCAGGAATTCCTATGATGTCACCAATAGCCAATCACAGCTTCTGAGGGAGACAACCCAGGTCTCTGCCTGAGCTGATGTAATTCTCACTCAAAGCAAAGACCCTTGCCATTCAAGTTACCCTGAGGGGCCTTGGTGGGAAGGTGCCTGCCAGGCTTTCTGGAATGCAGCGGACAGCGTGAGGCCTGGCTTCTACCTTTACTGACTCAGGTTGGGGATCCCTGGTCCCCAATACCCAAGAACCCCAGTCTTGGCCATGCAAGTGTCACCTGCTCGATGCCCGGCTTGTCGGGGTTGAGCAGCGGCCTCGTCTCCACATGCTCTGGCACCAGGCGGCAGCCTGCGCGGGGGATGTCCTCCCAGTGCCTCAGGGCCAACAGCGCCACATGCTCGTCTGTGGGCTTCCTCTGACCTGTGGGTGCCGGCGGCTCAGCTGCACACATGGCTCAGCAGAACCAGAAGACCTTTGCTGGGACTAGGGACTTAGGAGCACAAAGAAGCCTCTATGCCATCACCTGTCTACCCCACCTCCTTTTCACTGTTGGGGAAACTGAGGCACAGAAGGAGAAGTGGCTTGCCCAGGGTCTCAGCTGCCCCACAGGGCCAAGAGAGGTCTGTGCCCTTGGTCCTCTGCTTGGGGAAGTTGACTGGAGAGCCCTGCTGGGCTGAGAGAAGGGTCAGGGAGGGGAGAATCCACTTCCTGTCCCAGCACCTGAAAGTGATCAGATACCAGCACAGACACCTCCCAATTCTCTGCTTCTCTGGGAAGTGCCTCATGGACAGAGAAGTAAGGAGAGTTTAAGGATTAGAGCCAGATGGACCTGGGCCGATGCCCTCGCTCTGCCTCTAAAGAGCCACATGACCTTGGGCGAGTCACTAGAAGTAGGATCTTGGTTTGTTTATCTGCAGAATGGGATGCAGATAGCCTCTCTACCTCACTGGGATTTGGACAGAGAGAAAGCAGGTGGGGCTGCCCTGTAGGAGGGGTGGAAGCACAGAGGCTGGGCAGACAGGAACGGGGCTCTGGGGTGATGAGCAGAGGGTCACTAAGACCAGGTTTAGGCTGAGGACACCCCAGGCTAGGCTGTGAGGTTCCCCAGGGAAGTGTGGGCCCCTCCTGGCCTCTGAAACCCCCTGGAGAGGGGGCAGGCGGCTGCATCCAGTGCCCCATTACCGTTCTCGTCCTCAATCTCAGAGGGCCCAGTGAAGACGCGGTTGGCCACCTTCACTCTCCCAGGGGGCCCAAAGTGGGGGCCGTCCACTTTGCCGTCTTTGCAGAGGCGGGTCAGGATCTGGCTGGGCTTCATGGGGTCCCGCCAGATATTGTAGCCATGTCTGTGGGAGGGGACACACAGGCTTGGAGGGGCTGGGTGGGACTAAGCCATCCTGGATGACAGCTGGTCGTGGCCAGTTCTCTAAAGTTGGCTGTTGCCCTCATCAGCAAGTGAGCCTGATTCCTCCTGCCCTGGGCCCCAGGCTCACCTGAGACACTAGGGCTGCTGGAGGCTGAACCTTCCTGCCCTGGGCCTTGGACCACATATCAGTGTCCCCAGCCTAGCCCCACTGCATCCCCTCACTGTGCCCACTCCTCTGGAACCTCAGAGACTCCCATGAGGAAACTGAAAACCAGAGAGGTGAAGGGACTTGGCCAGGGTCACACAGCCTATAAGTGGCAGAGCTGGCCCAGATCCCCAGGGGACTCTTTCTGTCCTCCTCTTGCTAGCCCCCACCTTCCCTAGCCCACTTGTCTCTCCTCGTCCTGCCTCCTCTGTCCTGGAATCCACTGTCCCTCTCCTTGTTTTGGGATCTGCAGTCCTGTCCCCTGAAGACTGTGCCCAGGGACTGTAGGGGCAGAGGCCTGGCCTGGGACAGAAACCACAATGTCTAACCTCTCAAATCACCAGGATCTGAATCTCATTTTAGAGTGGAGGCAAAGCAGGCACACTGCCCCCGCCCTCTGCCCCATGCCCCACATACGTGGAGTAGGTCTGGGCGATGCCGCAGGTGGCGCGGTGCTTGCTGTAGAAGCGGTTCTCCAGGTCGATCTTGGTTTCCCCAATGAGGTCATCAGTGCCCACCAGGTCCCAGTCATACACAGCCACCGTCAGCATGGATTCCATGGGGAAGGAGGCCTCGATGTCAAAGGACCTGGTGGGGTGGAGTTAGGAGAAGGGCTTAAGGATTGGCTAGGGTGGGAGGTGTTCTGGGTTGGAGAAGTAGGGGTGTGGCAGGGGAGGGCACCAAGAAGCCTTACTTCCCAAAGACAGGGTTGAGCTGCTTGGAGATGTAGTTCTCCTTGTCGCGGATGTCAGTCTTGCCTAGCCGGATGGCGATGTAGGGGTCAGCTTTGCCGTTGATGTCAGCAGGGTGCAGGTCCGTGGCCTGGAATGGGGAGAAGGGCTGCCTGAGCAGGCTCCCATGCCCTGCTCATCTTCAGTG
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GCCCCACCCAGCTCAGTCCCTCCCATGCAGGGACTGCTCACCCACCCCCTCACGAAGATGTCACTGGACTTCTCCCCTGTGAAGAAGTCGTCGTCCTCCAAGACCACCTCATCTGTGTTCCAGATGATGACCCGCAGCTCGTACCTGGGCCCAGGGAGAGAAGGCTGGTTAGCAGCCCCAGGTGGGGGTTATGCCAGGGTGCCAGGGCTGGGATGGGGCAGGCGGAGAGAAGCCCTGGGGTCTTGGGGTCAGCACAGGGCCTGGGCCAGGCTGGGGCTGGAGGAGTGGTTTGGGGTTGGGGGAGCAGAGGCATGAGTGAGAAGGCCCACCAGGCACATGGCTGTGGGCGGTGGGGGTGGGGTGAGGGGAGGAAGCCACCCTCTGTCTCAGATGCTAGTTCCAAGAGAAGTCTGCATTTAAGCCCAGTAGCCAGCAATGGAAGCCCATGGAAGCTGTATGTCCCTGTCCCCAAAGAGGATTTTCCCCTCAAGGTTTAATTGTAATTATGAATGATGTAGTTCATTTCAATCATTAAGAGTGAGGCTGAGTCATTCACTAAAAATTGATCTGAGCATGGCTCTCCTGGGATTGCAGACAGGGCTGCGAGCCCAGAGTGGCCCAGTGAGTTGGGTGCCCCCTAATGACAGGCCCTGGAACAGCTGACTCATGGCCTCAGGTTTCCAGGACATTCCTGGCAGAATTTGCTGCATGATTTGCTGGGGCCAGCGCCAAATGGAAATGCAGGGTCACTTGTCATAAAGAATTTCAAGATGGCAACATAGGAGCATGGAAACAAGAGTGGGACCCTGTGTGGCTTCCTCCATCCCTGAAGCTGGCCCTGAATCCAGTCACTGTCTGACAGCTGGACTTGAACCTGCCGCTTTATGGATGGGAAACCCGGGTTCTTTTCACTCTACCACCTCCTGCCTCTTCCAGGCACTCACTCCTGGATTCATCACTGGCAGGCACTCCAAAGAAAACTTGGCGGAACATCACACTAGCCTGGATGTGAGGATGACGCAGGGCCGGCTCCCAGGGGTTCTGTGTGTTGTGAAGGAGTGCGTCAGTGTGGGCATGTGTGTGGGTGTCCGTGGGAGTGCTATGCTGTGTGTGTGTGTGTGCATGAGATGCATGTGTATGGGCGCGTAGACCGTGTAGATACAATGCACCGGAGTGTGCTGTGTGGGGCTTGTCTCGCTCACTGATGCAGGGTGGAAGGCGTTGTCCTGCCTTAGCACGTGGGGACTCTCCAGGGCAGGCCCTAAACTCTATCGATTGGTTGGTCAGTTTCTCCCCTATAAGGCCCAGTGGCCACACCCAGGCCCCAGGGATGCCAACTGGCCAAGGCCATCTGGACCTGAGCCCCCCGCAGGAAGGGTTGGGCCGTGGTGGGAAGTGGGTGGGGTGGGCCGGAAGGGAGTAGCGCTGGGCCCCAGGCCGCTCACTTCTTGGGCTTCCGAGGTGAGATGTCCAGAGGCGTCCCAGGGGCTGGCATGTCCATGGGGAACATGTCCACCCACAGCTCCAGGCGGCCCTGAGGAAGAGGGTTGTGGCAGATCTCCCAGGGCCTTCTCCCTCTGCCCAGGAAGATCAGCTCTCCTCTCCCTCCTAACCTTTGTTCTGTCAAGGACCCAGTTCATCAGTTTCCATCTTTGGATGCCAGGAATTCCTATGATGTCACCAATAGCCAATCACAGCTTCTGAGGGAGACAACCCAGGTCTCTGCCTGAGCTGATGTAATTCTCACTCAAAGCAAAGACCCTTGCCATTCAAGTTACCCTGAGGGGCCTTGGTGGGAAGGTGCCTGCCAGGCTTTCTGGAATGCAGCGGACAGCGTGAGGCCTGGCTTCTACCTTTACTGACTCAGGTTGGGGATCCCTGGTCCCCAATACCCAAGAACCCCAGTCTTGGCCATGCAAGTGTCACCTGCTCGATGCCCGGCTTGTCGGGGTTGAGCAGCGGCCTCGTCTCCACATGCTCTGGCACCAGGCGGCAGCCTGCGCGGGGGATGTCCTCCCAGTGCCTCAGGGCCAACAGCGCCACATGCTTGTCTGTGGGCTTCCTCTGACCTGTGGGTGCCGGCGGCTCAGCTGCACACATGGCTCAGCAGAACCAGAAGACCTTTGCTGGGACTAGGGACTTAGGAGCACAAAGAAGCCTCTATGCCATCACCTGTCTACCCCACCTCCTTTTCACTGTTGGGGAAACTGAGGCACAGAAGGAGAAGTGGCTTGCCCAGGGTCTCAGCTGCCCCACAGGGCCAAGAGAGGTCTGTGCCCTTGGTCCTCTGCTTGGGGAAGTTGACTGGAGAGCCCTGCTGGGCTGAGAGAAGGGTCAGGGAGGGGAGAATCCACTTCCTGTCCCAGCACCTGAAAGTGATCAGATACCAGCACAGACACCTCCCAATTCTCTGCTTCTCTGGGAAGTGCCTCATGGACAGAGAAGTAAGGAGAGTTTAAGGATTAGAGCCAGATGGACCTGGGCCGATGCCCTCGCTCTGCCTCTAAAGAGCCACATGACCTTGGGCGAGTCACTAGAAGTAGGATCTTGGTTTGTTTATCTGCAGAATGGGATGCAGATAGCCTCTCTACCTCACTGGGATTTGGACAGAGAGAAAGCAGGTGGGGCTGCCCTGTAGGAGGGGTGGAAGCACAGAGGCTGGGCAGACAGGAACGGGGCTCTGGGGTGATGAGCAGAGGGTCACTAAGACCAGGTTTAGGCTGAGGACACCCCAGGCTAGGCTGTGAGGTTCCCCAGGGAAGTGTGGGCCCCTCCTGGCCTCTGAAACCCCCTGGAGAGGGGGCAGGCGGCTGCATCCAGTGCCCCATTACCGTTCTCGTCCTCAATCTCAGAGGGCCCAGTGAAGACGCGGTTGGCCACCTTCACTCTCCCAGGGGGCCCAAAGTGGGGGCCGTCCACTTTGCCGTCTTTGCAGAGGCGGGTCAGGATCTGGCTGGGCTTCATGGGGTCCCGCCAGATATTGTAGCCATGTCTGTGGGAGGGGACACACAGGCTTGGAGGGGCTGGGTGGGACTAAGCCATCCTGGATGACAGCTGGTCGTGGCCAGTTCTCTAAAGTTGGCTGTTGCCCTCATCAGCAAGTGAGCCTGATTCCTCCTGCCCTGGGCCCCAGGCTCACCTGAGACACTAGGGCTGCTGGAGGCTGAACCTTCCTGCCCTGGGCCTTGGACCACATATCAGTGTCCCCAGCCTAGCCCCACTGCATCCCCTCACTGTGCCCACTCCTCTGGAACCTCAGAGACTCCCATGAGGAAACTGAAAACCAGAGAGGTGAAGGGACTTGGCCAGGGTCACACAGCCTATAAGTGGCAGAGCTGGCCCAGATCCCCAGGGGACTCTTTCTGTCCTCCTCTTGCTAGCCCCCACCTTCCCTAGCCCACTTGTCTCTCCTCGTCCTGCCTCCTCTGTCCTGGAATCCACTGTCCCTCTCCTTGTTTTGGGATCTGCAGTCCTGTCCCCTGAAGACTGTGCCCAGGGACTGTAGGGGCAGAGGCCTGGCCTGGGACAGAAACCACAATGTCTAACCTCTCAAATCACCAGGATCTGAATCTCATTTTAGAGTGGAGGCAAAGCAGGCACACTGCCCCCGCCCTCTGCCCCATGCCCCACATACGTGGAGTAGGTCTGGGCGATGCCGCAGGTGGCGCGGTGCTTGCTGTAGAAGCGGTTCTCCAGGTCGATCTTGGTTTCCCCAATGAGGTCATCAGTGCCCACCAGGTCCCAGTCATACACAGCCACCGTCAGCATGGATTCCATGGGGAAGGAGGCCTCGATGTCAAAGGACCTGGTGGGGTGGAGTTAGGAGAAGGGCTTAAGGATTGGCTAGGGTGGGAGGTGTTCTGGGTTGGAGAAGTAGGGGTGTGGCAGGGGAGGGCACCAAGAAGCCTTACTTCCCAAAGACAGGGTTGAGCTGCTTGGAGATGTAGTTCTCCTTGTCGCGGATGTCAGTCTTGCCTAGCCGGATGGCGATGTAGGGGTCAGCTTTGCCGTTGATGTCAGCAGGGTGCAGGTCCGTGGCCTGGAATGGGGAGAAGGGCTGCCTGAGCAGGCTCCCATGCCCTGCTCATCTTCAGTG
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Task1_train_3199
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A sequence alteration has been identified in OTOF (otoferlin) on Chromosome 2. Is it disease-inducing or harmless?
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Pathogenic; Autosomal recessive nonsyndromic hearing loss 9
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GCTGGACTTGAACCTGCCGCTTTATGGATGGGAAACCCGGGTTCTTTTCACTCTACCACCTCCTGCCTCTTCCAGGCACTCACTCCTGGATTCATCACTGGCAGGCACTCCAAAGAAAACTTGGCGGAACATCACACTAGCCTGGATGTGAGGATGACGCAGGGCCGGCTCCCAGGGGTTCTGTGTGTTGTGAAGGAGTGCGTCAGTGTGGGCATGTGTGTGGGTGTCCGTGGGAGTGCTATGCTGTGTGTGTGTGTGTGCATGAGATGCATGTGTATGGGCGCGTAGACCGTGTAGATACAATGCACCGGAGTGTGCTGTGTGGGGCTTGTCTCGCTCACTGATGCAGGGTGGAAGGCGTTGTCCTGCCTTAGCACGTGGGGACTCTCCAGGGCAGGCCCTAAACTCTATCGATTGGTTGGTCAGTTTCTCCCCTATAAGGCCCAGTGGCCACACCCAGGCCCCAGGGATGCCAACTGGCCAAGGCCATCTGGACCTGAGCCCCCCGCAGGAAGGGTTGGGCCGTGGTGGGAAGTGGGTGGGGTGGGCCGGAAGGGAGTAGCGCTGGGCCCCAGGCCGCTCACTTCTTGGGCTTCCGAGGTGAGATGTCCAGAGGCGTCCCAGGGGCTGGCATGTCCATGGGGAACATGTCCACCCACAGCTCCAGGCGGCCCTGAGGAAGAGGGTTGTGGCAGATCTCCCAGGGCCTTCTCCCTCTGCCCAGGAAGATCAGCTCTCCTCTCCCTCCTAACCTTTGTTCTGTCAAGGACCCAGTTCATCAGTTTCCATCTTTGGATGCCAGGAATTCCTATGATGTCACCAATAGCCAATCACAGCTTCTGAGGGAGACAACCCAGGTCTCTGCCTGAGCTGATGTAATTCTCACTCAAAGCAAAGACCCTTGCCATTCAAGTTACCCTGAGGGGCCTTGGTGGGAAGGTGCCTGCCAGGCTTTCTGGAATGCAGCGGACAGCGTGAGGCCTGGCTTCTACCTTTACTGACTCAGGTTGGGGATCCCTGGTCCCCAATACCCAAGAACCCCAGTCTTGGCCATGCAAGTGTCACCTGCTCGATGCCCGGCTTGTCGGGGTTGAGCAGCGGCCTCGTCTCCACATGCTCTGGCACCAGGCGGCAGCCTGCGCGGGGGATGTCCTCCCAGTGCCTCAGGGCCAACAGCGCCACATGCTCGTCTGTGGGCTTCCTCTGACCTGTGGGTGCCGGCGGCTCAGCTGCACACATGGCTCAGCAGAACCAGAAGACCTTTGCTGGGACTAGGGACTTAGGAGCACAAAGAAGCCTCTATGCCATCACCTGTCTACCCCACCTCCTTTTCACTGTTGGGGAAACTGAGGCACAGAAGGAGAAGTGGCTTGCCCAGGGTCTCAGCTGCCCCACAGGGCCAAGAGAGGTCTGTGCCCTTGGTCCTCTGCTTGGGGAAGTTGACTGGAGAGCCCTGCTGGGCTGAGAGAAGGGTCAGGGAGGGGAGAATCCACTTCCTGTCCCAGCACCTGAAAGTGATCAGATACCAGCACAGACACCTCCCAATTCTCTGCTTCTCTGGGAAGTGCCTCATGGACAGAGAAGTAAGGAGAGTTTAAGGATTAGAGCCAGATGGACCTGGGCCGATGCCCTCGCTCTGCCTCTAAAGAGCCACATGACCTTGGGCGAGTCACTAGAAGTAGGATCTTGGTTTGTTTATCTGCAGAATGGGATGCAGATAGCCTCTCTACCTCACTGGGATTTGGACAGAGAGAAAGCAGGTGGGGCTGCCCTGTAGGAGGGGTGGAAGCACAGAGGCTGGGCAGACAGGAACGGGGCTCTGGGGTGATGAGCAGAGGGTCACTAAGACCAGGTTTAGGCTGAGGACACCCCAGGCTAGGCTGTGAGGTTCCCCAGGGAAGTGTGGGCCCCTCCTGGCCTCTGAAACCCCCTGGAGAGGGGGCAGGCGGCTGCATCCAGTGCCCCATTACCGTTCTCGTCCTCAATCTCAGAGGGCCCAGTGAAGACGCGGTTGGCCACCTTCACTCTCCCAGGGGGCCCAAAGTGGGGGCCGTCCACTTTGCCGTCTTTGCAGAGGCGGGTCAGGATCTGGCTGGGCTTCATGGGGTCCCGCCAGATATTGTAGCCATGTCTGTGGGAGGGGACACACAGGCTTGGAGGGGCTGGGTGGGACTAAGCCATCCTGGATGACAGCTGGTCGTGGCCAGTTCTCTAAAGTTGGCTGTTGCCCTCATCAGCAAGTGAGCCTGATTCCTCCTGCCCTGGGCCCCAGGCTCACCTGAGACACTAGGGCTGCTGGAGGCTGAACCTTCCTGCCCTGGGCCTTGGACCACATATCAGTGTCCCCAGCCTAGCCCCACTGCATCCCCTCACTGTGCCCACTCCTCTGGAACCTCAGAGACTCCCATGAGGAAACTGAAAACCAGAGAGGTGAAGGGACTTGGCCAGGGTCACACAGCCTATAAGTGGCAGAGCTGGCCCAGATCCCCAGGGGACTCTTTCTGTCCTCCTCTTGCTAGCCCCCACCTTCCCTAGCCCACTTGTCTCTCCTCGTCCTGCCTCCTCTGTCCTGGAATCCACTGTCCCTCTCCTTGTTTTGGGATCTGCAGTCCTGTCCCCTGAAGACTGTGCCCAGGGACTGTAGGGGCAGAGGCCTGGCCTGGGACAGAAACCACAATGTCTAACCTCTCAAATCACCAGGATCTGAATCTCATTTTAGAGTGGAGGCAAAGCAGGCACACTGCCCCCGCCCTCTGCCCCATGCCCCACATACGTGGAGTAGGTCTGGGCGATGCCGCAGGTGGCGCGGTGCTTGCTGTAGAAGCGGTTCTCCAGGTCGATCTTGGTTTCCCCAATGAGGTCATCAGTGCCCACCAGGTCCCAGTCATACACAGCCACCGTCAGCATGGATTCCATGGGGAAGGAGGCCTCGATGTCAAAGGACCTGGTGGGGTGGAGTTAGGAGAAGGGCTTAAGGATTGGCTAGGGTGGGAGGTGTTCTGGGTTGGAGAAGTAGGGGTGTGGCAGGGGAGGGCACCAAGAAGCCTTACTTCCCAAAGACAGGGTTGAGCTGCTTGGAGATGTAGTTCTCCTTGTCGCGGATGTCAGTCTTGCCTAGCCGGATGGCGATGTAGGGGTCAGCTTTGCCGTTGATGTCAGCAGGGTGCAGGTCCGTGGCCTGGAATGGGGAGAAGGGCTGCCTGAGCAGGCTCCCATGCCCTGCTCATCTTCAGTGCCCCTGCCAGGCTGCCTGAGGGTCCTATGACAGTGAAGGGCAGGGGCAGGAGCACTGGACCCCTCAGGAGGCTTGCTGTGTGACCCTAGGCAAGTGGCTACCCCTCTCTGGGCGTTGACTTCTTCCTCTAGAAAAGATAAAGACTAGACCAAATGATCTCCCTGGTGCCTCCCAGTCTGGGGCTGTCAGTATGCAGCTTCTTCTTCTTTTTTTTTTCCTTTGAGACAGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAATGACGTGATCTCAGCTCACTGCAAGCTCCACCTCCCAGGTTCAAGCGATTTTCCTGCCTCAGCCTCCTCAGTAGCTGGGATTACAGGTGCGTGGCACTGTGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTAACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAACCATTGCACCTGGCCAGTATGCAGCTTCTTTGCTCTCTCCCAGATGGGAGGATGAGGAGACTTGCAAGGAGGGAAAGCGACGGGAGTCTCACCCGGACCACATAGACTCGGACCAGCACATTGATGGGGTCATTGCTCGGGATGCCCTGGAACATGCCGTAGGTGGAGTCGTAGCCGGCTTCCCGGGACACGTCCTCTGGGAGTGGCACTTTGTACACGCAGAGGGAGCCCTGGGCAAGACAAATGTGGGTCAGGGTGTAGGTTTGCCTGGCAAGGGTGGCATTCAAAATAGCTAACAGCACCAGGAGGGCTGGACCCTGATGTGGCAGGGCCTTCACCCTTTAACTGCTGAGTCATGGGAGAGTCCAGGGCT
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GCTGGACTTGAACCTGCCGCTTTATGGATGGGAAACCCGGGTTCTTTTCACTCTACCACCTCCTGCCTCTTCCAGGCACTCACTCCTGGATTCATCACTGGCAGGCACTCCAAAGAAAACTTGGCGGAACATCACACTAGCCTGGATGTGAGGATGACGCAGGGCCGGCTCCCAGGGGTTCTGTGTGTTGTGAAGGAGTGCGTCAGTGTGGGCATGTGTGTGGGTGTCCGTGGGAGTGCTATGCTGTGTGTGTGTGTGTGCATGAGATGCATGTGTATGGGCGCGTAGACCGTGTAGATACAATGCACCGGAGTGTGCTGTGTGGGGCTTGTCTCGCTCACTGATGCAGGGTGGAAGGCGTTGTCCTGCCTTAGCACGTGGGGACTCTCCAGGGCAGGCCCTAAACTCTATCGATTGGTTGGTCAGTTTCTCCCCTATAAGGCCCAGTGGCCACACCCAGGCCCCAGGGATGCCAACTGGCCAAGGCCATCTGGACCTGAGCCCCCCGCAGGAAGGGTTGGGCCGTGGTGGGAAGTGGGTGGGGTGGGCCGGAAGGGAGTAGCGCTGGGCCCCAGGCCGCTCACTTCTTGGGCTTCCGAGGTGAGATGTCCAGAGGCGTCCCAGGGGCTGGCATGTCCATGGGGAACATGTCCACCCACAGCTCCAGGCGGCCCTGAGGAAGAGGGTTGTGGCAGATCTCCCAGGGCCTTCTCCCTCTGCCCAGGAAGATCAGCTCTCCTCTCCCTCCTAACCTTTGTTCTGTCAAGGACCCAGTTCATCAGTTTCCATCTTTGGATGCCAGGAATTCCTATGATGTCACCAATAGCCAATCACAGCTTCTGAGGGAGACAACCCAGGTCTCTGCCTGAGCTGATGTAATTCTCACTCAAAGCAAAGACCCTTGCCATTCAAGTTACCCTGAGGGGCCTTGGTGGGAAGGTGCCTGCCAGGCTTTCTGGAATGCAGCGGACAGCGTGAGGCCTGGCTTCTACCTTTACTGACTCAGGTTGGGGATCCCTGGTCCCCAATACCCAAGAACCCCAGTCTTGGCCATGCAAGTGTCACCTGCTCGATGCCCGGCTTGTCGGGGTTGAGCAGCGGCCTCGTCTCCACATGCTCTGGCACCAGGCGGCAGCCTGCGCGGGGGATGTCCTCCCAGTGCCTCAGGGCCAACAGCGCCACATGCTCGTCTGTGGGCTTCCTCTGACCTGTGGGTGCCGGCGGCTCAGCTGCACACATGGCTCAGCAGAACCAGAAGACCTTTGCTGGGACTAGGGACTTAGGAGCACAAAGAAGCCTCTATGCCATCACCTGTCTACCCCACCTCCTTTTCACTGTTGGGGAAACTGAGGCACAGAAGGAGAAGTGGCTTGCCCAGGGTCTCAGCTGCCCCACAGGGCCAAGAGAGGTCTGTGCCCTTGGTCCTCTGCTTGGGGAAGTTGACTGGAGAGCCCTGCTGGGCTGAGAGAAGGGTCAGGGAGGGGAGAATCCACTTCCTGTCCCAGCACCTGAAAGTGATCAGATACCAGCACAGACACCTCCCAATTCTCTGCTTCTCTGGGAAGTGCCTCATGGACAGAGAAGTAAGGAGAGTTTAAGGATTAGAGCCAGATGGACCTGGGCCGATGCCCTCGCTCTGCCTCTAAAGAGCCACATGACCTTGGGCGAGTCACTAGAAGTAGGATCTTGGTTTGTTTATCTGCAGAATGGGATGCAGATAGCCTCTCTACCTCACTGGGATTTGGACAGAGAGAAAGCAGGTGGGGCTGCCCTGTAGGAGGGGTGGAAGCACAGAGGCTGGGCAGACAGGAACGGGGCTCTGGGGTGATGAGCAGAGGGTCACTAAGACCAGGTTTAGGCTGAGGACACCCCAGGCTAGGCTGTGAGGTTCCCCAGGGAAGTGTGGGCCCCTCCTGGCCTCTGAAACCCCCTGGAGAGGGGGCAGGCGGCTGCATCCAGTGCCCCATTACCGTTCTCGTCCTCAATCTCAGAGGGCCCAGTGAAGACGCGGTTGGCCACCTTCACTCTCCCAGGGGGCCCAAAGTGGGTGCCGTCCACTTTGCCGTCTTTGCAGAGGCGGGTCAGGATCTGGCTGGGCTTCATGGGGTCCCGCCAGATATTGTAGCCATGTCTGTGGGAGGGGACACACAGGCTTGGAGGGGCTGGGTGGGACTAAGCCATCCTGGATGACAGCTGGTCGTGGCCAGTTCTCTAAAGTTGGCTGTTGCCCTCATCAGCAAGTGAGCCTGATTCCTCCTGCCCTGGGCCCCAGGCTCACCTGAGACACTAGGGCTGCTGGAGGCTGAACCTTCCTGCCCTGGGCCTTGGACCACATATCAGTGTCCCCAGCCTAGCCCCACTGCATCCCCTCACTGTGCCCACTCCTCTGGAACCTCAGAGACTCCCATGAGGAAACTGAAAACCAGAGAGGTGAAGGGACTTGGCCAGGGTCACACAGCCTATAAGTGGCAGAGCTGGCCCAGATCCCCAGGGGACTCTTTCTGTCCTCCTCTTGCTAGCCCCCACCTTCCCTAGCCCACTTGTCTCTCCTCGTCCTGCCTCCTCTGTCCTGGAATCCACTGTCCCTCTCCTTGTTTTGGGATCTGCAGTCCTGTCCCCTGAAGACTGTGCCCAGGGACTGTAGGGGCAGAGGCCTGGCCTGGGACAGAAACCACAATGTCTAACCTCTCAAATCACCAGGATCTGAATCTCATTTTAGAGTGGAGGCAAAGCAGGCACACTGCCCCCGCCCTCTGCCCCATGCCCCACATACGTGGAGTAGGTCTGGGCGATGCCGCAGGTGGCGCGGTGCTTGCTGTAGAAGCGGTTCTCCAGGTCGATCTTGGTTTCCCCAATGAGGTCATCAGTGCCCACCAGGTCCCAGTCATACACAGCCACCGTCAGCATGGATTCCATGGGGAAGGAGGCCTCGATGTCAAAGGACCTGGTGGGGTGGAGTTAGGAGAAGGGCTTAAGGATTGGCTAGGGTGGGAGGTGTTCTGGGTTGGAGAAGTAGGGGTGTGGCAGGGGAGGGCACCAAGAAGCCTTACTTCCCAAAGACAGGGTTGAGCTGCTTGGAGATGTAGTTCTCCTTGTCGCGGATGTCAGTCTTGCCTAGCCGGATGGCGATGTAGGGGTCAGCTTTGCCGTTGATGTCAGCAGGGTGCAGGTCCGTGGCCTGGAATGGGGAGAAGGGCTGCCTGAGCAGGCTCCCATGCCCTGCTCATCTTCAGTGCCCCTGCCAGGCTGCCTGAGGGTCCTATGACAGTGAAGGGCAGGGGCAGGAGCACTGGACCCCTCAGGAGGCTTGCTGTGTGACCCTAGGCAAGTGGCTACCCCTCTCTGGGCGTTGACTTCTTCCTCTAGAAAAGATAAAGACTAGACCAAATGATCTCCCTGGTGCCTCCCAGTCTGGGGCTGTCAGTATGCAGCTTCTTCTTCTTTTTTTTTTCCTTTGAGACAGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAATGACGTGATCTCAGCTCACTGCAAGCTCCACCTCCCAGGTTCAAGCGATTTTCCTGCCTCAGCCTCCTCAGTAGCTGGGATTACAGGTGCGTGGCACTGTGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTAACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAACCATTGCACCTGGCCAGTATGCAGCTTCTTTGCTCTCTCCCAGATGGGAGGATGAGGAGACTTGCAAGGAGGGAAAGCGACGGGAGTCTCACCCGGACCACATAGACTCGGACCAGCACATTGATGGGGTCATTGCTCGGGATGCCCTGGAACATGCCGTAGGTGGAGTCGTAGCCGGCTTCCCGGGACACGTCCTCTGGGAGTGGCACTTTGTACACGCAGAGGGAGCCCTGGGCAAGACAAATGTGGGTCAGGGTGTAGGTTTGCCTGGCAAGGGTGGCATTCAAAATAGCTAACAGCACCAGGAGGGCTGGACCCTGATGTGGCAGGGCCTTCACCCTTTAACTGCTGAGTCATGGGAGAGTCCAGGGCT
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Subsets and Splits
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