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_6700
|
A genetic alteration is present in LARS2, LARS2-AS1 (leucyl-tRNA synthetase 2, mitochondrial| LARS2 antisense RNA 1) on Chromosome 3. Is this variant benign or disease-causing, and if the latter, which condition is involved?
|
Pathogenic; Perrault syndrome 4
|
GTTGAATTTCTTTAGGGAACTGTTTTTCACGAAGAAAAAAAGTGTTTTTTAAAAATTTTATCAGAATTCTGGTACAGTGACTGGAGAACACCAAACTATATTAAGATGCAAATATGTGGTGGTAGCCAGGCTCTTTTTTCTAGCCTCAAAGCTGAAGCCAGCCAAGTCTATCCTGGGGAAAAAGGTGGCTTGAGGTGTCAGGGAACCAATTCACAAATATTCGAAGTCCTCCAAAGGCAAAGGTTTGCTTGATTGGCTGACCTCAAGGGACGGCATTACCTTGGCAACACAGAGGTCTGTCGCCAGCCAGTGCTGCCCCTCCCACCGAAGGTCCCAGCCAGAAAATGGAAATGACATTTCCTTTCCTCTCCAGTGTCCTTTAGGACCCAAGAGTATGAGAAAGCCTTTCTATTAGTATCTGTTAGGTGAGAGTTATTGGGCTATTATATGACAAGTCACCTTAAATATGTTGCATCGCATTCAGTAAGCAATATACAGTCTCTAGCTGAGTATATTTTCAGACTGCTTTAAAAAATAAAATCAAATTTCTATTTTAAAATAAACATTTACAGCTGGGGCACAGTGGCTCACATGTGTAATCCCATAACTTGGGGAGGCCGAGGCAGGAAGATGACTTGAGGCCAGGAGTTCAAGACCAGCTGGACTGAACGTAGCAAGACCTCGTCTCCATAAAAAATGTTTTAAAAAAATTAACTGATGGCCAGGTGCAGTGGCTCACACCTGTAGTCCCAGCACTTTGGGAGGCCGAGTTAGGCAGATCACCTGAGGTCAGAAGTTCAAGATCAGCCTGACCAACATGGCAAAACCCCATCTCTACTAAAAATATAAAAATTAGCCTGGTGTGGTGTCAGGCATCTGTAATCCCAGCTACTCAGGAGGCTGAGGCACAAGAATAGCTTGAACCCTGGAGGCGGAGGTTGCAGTGAGCCGAGATCACGCCCCTGCAACCGAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAGAAAATTAAAAAAAAAAAAGAAAAAATTAGCTGGGCAGAGTGGTGTGTGTCTGTAGTCCTAGATACTTGGGAGGTTGAGGCTGGAAGATCGCTTGAGCCCAGGAGTTGGAGGCTGCAGTGAACTATGATTGTGCCACTGCGCTCCAGCGTGGGTGACCAAGCAAGACCCAAACTTTAATAAAGAAAAAAAAATGTTTTTTAATGTGAAAATAAATTAATAAATAAACATTTAGTATCTGCATGTTAATCTTCATTGTAAATACCACATTGCCCTCTATTGGTAGGAACTCTGACATCTCAATTGTGTAATCATAATAATAAAAATTAAAGTGAATCTAGATATTCAAGGTGCATTGTAGCAAGATGCCTTTTTTTGCTGGTATGTTTTCCTTTTGTCCTCATTTTATATGCAAATTGCTTTTGTTGAAATATGTCAGTAATATCTTCTGTAACCATTTTTATAATTTCATAAATTAACACTTACCTGACTTTTTTCTTTTTTATTATATAAGCTTTTCTCATATATATATTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTCTGTTTTGTTTTTGAGACAGAGTCTCACCCTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGGTTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGATTACAGGTGCCCACCACTACAACTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGGCAGGCTGGTCTCGAACTCCTGACCTCAGGTGAGCCACCTGCCTCGGCCTCCCAAACTGCTGGGATGACAGGCATGAGCCACCGCGCCCGGCCTTCTCTTATATTTTAAAAAAATCATTGTTATTCCCTGATACGGTTCATTTCAGGGCATATGCATATTACAATAGGCCTGTTTAATTTACACAATTGTGGCAAAGCAGGTTTTTAAAAATGCCTCCATCTCTTTTTTACAGCCCTTTTAACACAGCAGTGGCCGATTACTGGATGCCTGTGGATTTGTACATTGGAGGGAAAGAACATGCCGTCATGCACTTGTTCTATGCAAGATTCTTTAGTCATTTTTGCCATGATCAAAAAATGGTTAAACATAGGTAAGCACTTATACTGCTTTGCAAAATAATTGAGTTCCATGAATAGCAACTTTAAGCAGGTGTCAGTTCTTCTGAAGCAAGGTAAATGCATGTAGTAGAATACTAGTTTTCTAGTATGCTTTAGAGGTTGTCAACCTTAATCATTTGAGGTCCATTTATATTGCGTAGTCAGTTCTGGCATGTGATGTTGCATGCTTGCATAGAACCTAGCCTTCAGTGCTTCTCTGTTTAACTGAGTTAAGTAATTAAGAATTGTACCTGTGAGGCAGAGAGGAGTGGCCCATAGTGTTTTATAGCATCTCATGTGAGGTCATGCTTATCACCCAGTCCTTCCATGTCAGCTCTTGTTCCTAAGCTTGGCTGAATCCCACCTTGATGCATCCCTCTAAAAAATGTATAGAGTGGATTTGAAATAGAGAATCACATTGTAAAAACATCAGTAAATTCTTTTCCTGTTGGCCTATTGTAACCCTTTCCTCATAATGTTCAGAAAAATGTGTGTGTACTTTTCCCCATGAAACGTATCATATATAAAAATTACATATTTAATGTATTTAAAGAATGGTACAACACATTAAATATGGAATTTTTATATATGAACATACATGCCCCACTCCTCAGTTTAAGAAACAGAGTATTTCAGGTACCTTAGAATCCCCAAGGTGCCCCCTCCAATTGTGTATCGCTCTTCTACGCCCACCACCTCGCCCCTAGCTAATACCGATCCCAGATTTTTAATTCCTCACTTTCTTGCTTTTCTTTATAAATGTATCGTTTCTGCATGTATTTTTAAACTATATATTGTCTGGTTTTCCTGTGTTTGAACTTTACATAGGTAGAATTATATTTCAGGTATTCTGTCTTGCTTTCCTCACTCAACAGTTTTTTGAGATTCAGCAGTGCTGACGGATGAAGTTATATTTCATTCCTGTTTCACTGCTGCGTGATATTCCATTATATGGAATGAAACTTCCAAAATAGAACTCAGTTTATGTATCATACCACCATTAATGGTGGTTGGACTGTTTTGTGCAATTATGAACAAAACTGCTATGAACCTTCTTGCACGTGGTTCCTGACATATGCGTCACCATTTCTTTAAAATGTGTACCTAAGAGTAGAATTGCTCGATTGTAGGATACGCACGTGTTCAACTGTCTTGAGAAACACCAAACTGTTTTCCATAGTGATTACCTAAGCCTATACTCCCACTAGTAGAAATGAGGGATCCGATCACTCTACGTCGTCATCAACATTTTGTACTATCCAACTTTTAAATTTCACCAAACCAGTGGGTATATAATGGGTCACGTTGTGAGTTAAATTTGAATTTCAAGACACCGATTTTTTTTTAATTTTTTAATTTTTAATTTTTGCAGGTACATAGTAGGTGTATATTTATGGGGTACATGAGATATTTTGGTATGGGCATGCAATGCATAGTAATCACATCATGGAAAGTTGGGTATCCATTCCTTCAAGCATTTATCCTTTGTGTTACAAACAATCCAATTATACTCTTTTAGTTATTTTTAAATGTTTAATTAAGTTATTGTTGACTATAGTTGATTTCTTAATGAAGTTTATCATGTTTCATAGGTTTATGAATCTCTGTGATCAAATCCCTGTTTGTATCCTATGCTTTTATTTTTTCTAGATCGTTTCTCTTTTATTGATTTGTAAGGGGTTCTTTAAATATTCTTGATACTAATCCTTTTTCAGCTATATGTATTGCAAGTAGTTTTTTCTAGTTCTTGGCTTGTCTTGTTTTTATGGCATCTTTTGATGAACAGAAACTCTTAATGTAGTAAAAATTAATAATCTTTCCTTTATGGCTACTGCTTTCGGTGTGTCAGTACTGTTAATGGAATAGTCCATCCTTTTCCCCACTGATCTGTAGTGCCCTCTCCATCATAAATCAAGTTGTCATATATCCCAGGGCTTATTGATAGGATCT
|
GTTGAATTTCTTTAGGGAACTGTTTTTCACGAAGAAAAAAAGTGTTTTTTAAAAATTTTATCAGAATTCTGGTACAGTGACTGGAGAACACCAAACTATATTAAGATGCAAATATGTGGTGGTAGCCAGGCTCTTTTTTCTAGCCTCAAAGCTGAAGCCAGCCAAGTCTATCCTGGGGAAAAAGGTGGCTTGAGGTGTCAGGGAACCAATTCACAAATATTCGAAGTCCTCCAAAGGCAAAGGTTTGCTTGATTGGCTGACCTCAAGGGACGGCATTACCTTGGCAACACAGAGGTCTGTCGCCAGCCAGTGCTGCCCCTCCCACCGAAGGTCCCAGCCAGAAAATGGAAATGACATTTCCTTTCCTCTCCAGTGTCCTTTAGGACCCAAGAGTATGAGAAAGCCTTTCTATTAGTATCTGTTAGGTGAGAGTTATTGGGCTATTATATGACAAGTCACCTTAAATATGTTGCATCGCATTCAGTAAGCAATATACAGTCTCTAGCTGAGTATATTTTCAGACTGCTTTAAAAAATAAAATCAAATTTCTATTTTAAAATAAACATTTACAGCTGGGGCACAGTGGCTCACATGTGTAATCCCATAACTTGGGGAGGCCGAGGCAGGAAGATGACTTGAGGCCAGGAGTTCAAGACCAGCTGGACTGAACGTAGCAAGACCTCGTCTCCATAAAAAATGTTTTAAAAAAATTAACTGATGGCCAGGTGCAGTGGCTCACACCTGTAGTCCCAGCACTTTGGGAGGCCGAGTTAGGCAGATCACCTGAGGTCAGAAGTTCAAGATCAGCCTGACCAACATGGCAAAACCCCATCTCTACTAAAAATATAAAAATTAGCCTGGTGTGGTGTCAGGCATCTGTAATCCCAGCTACTCAGGAGGCTGAGGCACAAGAATAGCTTGAACCCTGGAGGCGGAGGTTGCAGTGAGCCGAGATCACGCCCCTGCAACCGAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAGAAAATTAAAAAAAAAAAAGAAAAAATTAGCTGGGCAGAGTGGTGTGTGTCTGTAGTCCTAGATACTTGGGAGGTTGAGGCTGGAAGATCGCTTGAGCCCAGGAGTTGGAGGCTGCAGTGAACTATGATTGTGCCACTGCGCTCCAGCGTGGGTGACCAAGCAAGACCCAAACTTTAATAAAGAAAAAAAAATGTTTTTTAATGTGAAAATAAATTAATAAATAAACATTTAGTATCTGCATGTTAATCTTCATTGTAAATACCACATTGCCCTCTATTGGTAGGAACTCTGACATCTCAATTGTGTAATCATAATAATAAAAATTAAAGTGAATCTAGATATTCAAGGTGCATTGTAGCAAGATGCCTTTTTTTGCTGGTATGTTTTCCTTTTGTCCTCATTTTATATGCAAATTGCTTTTGTTGAAATATGTCAGTAATATCTTCTGTAACCATTTTTATAATTTCATAAATTAACACTTACCTGACTTTTTTCTTTTTTATTATATAAGCTTTTCTCATATATATATTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTCTGTTTTGTTTTTGAGACAGAGTCTCACCCTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGGTTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGATTACAGGTGCCCACCACTACAACTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGGCAGGCTGGTCTCGAACTCCTGACCTCAGGTGAGCCACCTGCCTCGGCCTCCCAAACTGCTGGGATGACAGGCATGAGCCACCGCGCCCGGCCTTCTCTTATATTTTAAAAAAATCATTGTTATTCCCTGATACGGTTCATTTCAGGGCATATGCATATTACAATAGGCCTGTTTAATTTACACAATTGTGGCAAAGCAGGTTTTTAAAAATGCCTCCATCTCTTTTTTACAGCCCTTTTAACACAGCAGTGGCCGATTACTGGATGCCTGTGGATTTGTGCATTGGAGGGAAAGAACATGCCGTCATGCACTTGTTCTATGCAAGATTCTTTAGTCATTTTTGCCATGATCAAAAAATGGTTAAACATAGGTAAGCACTTATACTGCTTTGCAAAATAATTGAGTTCCATGAATAGCAACTTTAAGCAGGTGTCAGTTCTTCTGAAGCAAGGTAAATGCATGTAGTAGAATACTAGTTTTCTAGTATGCTTTAGAGGTTGTCAACCTTAATCATTTGAGGTCCATTTATATTGCGTAGTCAGTTCTGGCATGTGATGTTGCATGCTTGCATAGAACCTAGCCTTCAGTGCTTCTCTGTTTAACTGAGTTAAGTAATTAAGAATTGTACCTGTGAGGCAGAGAGGAGTGGCCCATAGTGTTTTATAGCATCTCATGTGAGGTCATGCTTATCACCCAGTCCTTCCATGTCAGCTCTTGTTCCTAAGCTTGGCTGAATCCCACCTTGATGCATCCCTCTAAAAAATGTATAGAGTGGATTTGAAATAGAGAATCACATTGTAAAAACATCAGTAAATTCTTTTCCTGTTGGCCTATTGTAACCCTTTCCTCATAATGTTCAGAAAAATGTGTGTGTACTTTTCCCCATGAAACGTATCATATATAAAAATTACATATTTAATGTATTTAAAGAATGGTACAACACATTAAATATGGAATTTTTATATATGAACATACATGCCCCACTCCTCAGTTTAAGAAACAGAGTATTTCAGGTACCTTAGAATCCCCAAGGTGCCCCCTCCAATTGTGTATCGCTCTTCTACGCCCACCACCTCGCCCCTAGCTAATACCGATCCCAGATTTTTAATTCCTCACTTTCTTGCTTTTCTTTATAAATGTATCGTTTCTGCATGTATTTTTAAACTATATATTGTCTGGTTTTCCTGTGTTTGAACTTTACATAGGTAGAATTATATTTCAGGTATTCTGTCTTGCTTTCCTCACTCAACAGTTTTTTGAGATTCAGCAGTGCTGACGGATGAAGTTATATTTCATTCCTGTTTCACTGCTGCGTGATATTCCATTATATGGAATGAAACTTCCAAAATAGAACTCAGTTTATGTATCATACCACCATTAATGGTGGTTGGACTGTTTTGTGCAATTATGAACAAAACTGCTATGAACCTTCTTGCACGTGGTTCCTGACATATGCGTCACCATTTCTTTAAAATGTGTACCTAAGAGTAGAATTGCTCGATTGTAGGATACGCACGTGTTCAACTGTCTTGAGAAACACCAAACTGTTTTCCATAGTGATTACCTAAGCCTATACTCCCACTAGTAGAAATGAGGGATCCGATCACTCTACGTCGTCATCAACATTTTGTACTATCCAACTTTTAAATTTCACCAAACCAGTGGGTATATAATGGGTCACGTTGTGAGTTAAATTTGAATTTCAAGACACCGATTTTTTTTTAATTTTTTAATTTTTAATTTTTGCAGGTACATAGTAGGTGTATATTTATGGGGTACATGAGATATTTTGGTATGGGCATGCAATGCATAGTAATCACATCATGGAAAGTTGGGTATCCATTCCTTCAAGCATTTATCCTTTGTGTTACAAACAATCCAATTATACTCTTTTAGTTATTTTTAAATGTTTAATTAAGTTATTGTTGACTATAGTTGATTTCTTAATGAAGTTTATCATGTTTCATAGGTTTATGAATCTCTGTGATCAAATCCCTGTTTGTATCCTATGCTTTTATTTTTTCTAGATCGTTTCTCTTTTATTGATTTGTAAGGGGTTCTTTAAATATTCTTGATACTAATCCTTTTTCAGCTATATGTATTGCAAGTAGTTTTTTCTAGTTCTTGGCTTGTCTTGTTTTTATGGCATCTTTTGATGAACAGAAACTCTTAATGTAGTAAAAATTAATAATCTTTCCTTTATGGCTACTGCTTTCGGTGTGTCAGTACTGTTAATGGAATAGTCCATCCTTTTCCCCACTGATCTGTAGTGCCCTCTCCATCATAAATCAAGTTGTCATATATCCCAGGGCTTATTGATAGGATCT
|
Task1_train_6701
|
A mutation found in LARS2 (leucyl-tRNA synthetase 2, mitochondrial) on Chromosome 3 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
|
Pathogenic; Nonsyndromic genetic hearing loss
|
GAGGCATGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAGAAAGAAAGAAAACAGTTGGAGACATGCAGTATACATAGGGACAGCTGTGAGAAACCCCCAGCACTGTGACCATTACATTTAGAAAAACTAGTGCATAATGGATGAGATTAGGTCACACGACAACCCTGTAAATGGTAGGCAGCCTCTCCAGCCAAACATTAGAGACAGGGTTTAGGGAAGCAGTCGATGCAATTACCTCATCAAAGCAAAATATATCAAGGTTTATAACGGTCCGTGGGAGAAAAAGAAGCTGGAGAAGCAGAACTGGCAGTGTCTCTCCAGCATGGATGACAGAGGGAAAGAGCTAAATTCAGGTGCACATAGAATTCAGCCTCACAGTTAGTGAAGTGTTCTCTGTAACAGGCAAGGCTGCCCATGTATAGCTGTGCAGTTTGTGCGCTACACAAAAGAACCAAGCCAAGGCTGTGATTTCAGTAGGGCCTGAAATGCAGCCGTTTCTCAAGCCATACATTTCAGGGCAACATCTGCCAAACGAGGGTGACTTTTTCTAACTTCTCAACTTTTCTGCCCAGAAAGATACATTTTTTCCTAATTTGCATAACAGTGTTTTAAGGTCTAGACACAGCCTGGGGCAGGGTAAAGGGGCCAGTGGTTCCCTGAGTCTCACCACAGCGTGGATAAACATCTAGGACTTCAGTCTCCCCTTCTCTGCTGTCATGGGGTCAGGCAGTATTGTGAACATCTTTTCCCTTCCCACGTAGTCTTGCCTACTGGGTGAGAATACTTTGATCAGCAAGGGCAGGTTTCTGTCTCCTTCATGGATGTAACTCTCATGAAGTATGGAGTTGGCTTTTAGGTCTGTACATCGGTCCCCTGTTAGCTTGGTTGCTGTTGGAATCAGAGATTATTTGGCTGGAAGGAAAAGAAATCCACCCAAACCCAGTTGCAGAAAATAGAGCTAGGCCCCACTGCTCATAGGAAGTCACCAGCCACTCCTTTTTTCTTCTCTCTTTCTCAGCTCTCTCGTTCTTAGTTCTTCTTCCTGCTTCTCTCTGTTCTTCTGCCCTGTTCTCCTTCATCTGCCAGACTTGGATTCTCCTCTCCCCAATTTCAATTTACCAAGTGACCTTGGGTAGCTGCAGTGGCAAGTCTTGCCCCATCTCCTTAGGACCTGATGGTCCCAGTGCTCAGCAACATGGAAACTGAGTTTCTGTATCTCTTAGCTCCAATTTGTGAGATAGAGGCTTAGCCTTGCCAGGTGCTCTTACTAGTCCTCTCCAGTAGGGCTTGGCAACAAGGTCACCTCATCCAAATGCGGCCATTTAAGACCCCTTCCATCAGCACCATCTAGACCAGTGGTATGTGAGTAGGGGAGGAGACAGTTCCAAAGAATAGGGTGTGGGTGGCTGGCACCACAAAGGGACCAACACATTTACCATGAGCCCGGTAAGTGAATTCCATGTGCCCTGAGAGTATGAGATCATGTTTTGGTGACTGCAACATGGATGGGACAGGTCAGGCTGCCAACTTCCATAAGAGACCCTTAATTCATCAAGAAAATGGCAACGTGTGCGAGTTTTTCAAAATTCTTTTTTACTTTCCTTTTTTGTGTATAAATAATTCACTTGTAAAGGGGGAAATTGTTTTGTTTTATAGAAAAAGCTGGCACAGGCCATTATAACTGTCCTGTTTATTCGCGAAGGTTTGTGGGAGGAAGGTGGGCCTCATTCATTTAAAAATAAAAATATTTTTATAACAATACAGAGGGAGAGAAAGCGGCTTGTTAAGTGAATTAGTGTGATTCTTCAAATGGACACTTTCCATCGCTCACCCAGTTTTTACTTATTGATGCTATTTCTATAGAAGCAATTCACAATGACACATACCATACCTATGGATTATTTTGGCATCTAGGTTCCGTTCCTGTTCATGCAAAAACGAAAGAGAAGTTAGAGGTGACGTGGGAGAAGATGAGTAAGTCCAAACACAACGGGGTGGACCCAGAGGAAGTTGTGGAGCAGTATGGGATCGACACGATTCGGCTCTACATCCTTTTTGCTGCCCCTCCTGAGAAGGATATCTTGTGGGATGTGAAAAGTAAGTCACCTTCCTCTTCCTGACTTGCTTCCTTTGTGATCTGCCCTGGACTTTGAAGGAGTTTGAGGAAGGAAATGTCTTTGCTGAAGACAGTGGTAGAGAATTCTAGGAATCAGTTCCATAGAGCAAGTAGCAGCTTGACCAGCATCCTGCACCACTCTTAGACGGGTGTTGACAAACATAAGCGAGCCTCAGAATCATTTGGGAAACATGTTGCAGATGCAGATTCCAGTGCTCCGCCCATGCCTGCTGACACAGCCTCCAGAATGGGGCTCAGGAGGTGGCCTTTGAACAAGCTCAGCGGTGATTCCAGTGCACACTCTACGAGGACCATGCTTTGAGAGTGGTTTCCTTGGAGACAGACTGGCTTCTGAGCTACTCCTAGGCCTGCTATAGTCCAAAGAGGCCAGTTCCCTCTTTCTTGATGTACCCTGCAAGGTTTTTTCTAGAACAGTGTCATTCTCCCTCACCAATCCAGAAAGCCCCGGGAGGGGTCTGGGCCTGTTGTTACCTATGGCCTCTTAGTCACCCACAGCACCCTTCATCTCCCCACTTAGGGGAGATTTGTCTCTCCAGAGTTGTTTAGTACTAAAATGACATGAAGTAAAATAATCTTGAGTATCTGGCTATTCTAGAATAAACCCGTCCAACAGTCATTCATTTTTACTTCATGTGATCAGCCCTAAGTGTTGTTGTGGGAAGAGGAAGTCAGATGCCTGGAAACTTGAGCCTTGTGTGAAGTATCCATGTCATTTGAGAAATCACTGTTTATTTTGATTTCCAACTAGCTGTGGCTAGTGGGAAGTGTGGTCTGGAACAGTGGTCACAGATGCCAGTCCTAGAACTAGCTGCCTCAGAATCACTGGGGGGCTTGCAAAGCACAGACAGGTGGAGGTTCTGGCTCCCACCCCTAACCCAGGGGACAGGCTCCAGGAATCTTTCTAAGAAGCCTCCCAGAAGGTTCTGCTGTGCATTCAGGCTTGAGAATGCCTAGCCTAGTGGCCAGACAGTACAAGGACCTGGACTGACCCTAATTTGGCTACTGGTATAACCCAGGGCCACCAGGTAAAGCCATTCAGCTTTACCAGAAGATCAGACCAGCAGCTGGATTGGATGAGCTTGTGTAAAATATGGAAAACACACATACCTGCAAGGACAGGGATTGTGCCAATGCACTTCACACTCTACAGCAGTGTGGCTGCAAGCACAGTCATGCTATCCACAAGGTAAGAGCTTGCACCAGCAGGAGTCAGCACTGTCTCCAAAGCACCATGTTAACTCCATGGCATTTTTGTCCCAGCAAGCTTGCTTAATCAAGGCGGCGGGGCACCAGGGCTCATCTTGACCAAGCTTCTGAGCTCATGACCGTTGGTGGGTGGCACTTTGAGTGGCCCTGCCATCCAGTGCTCTGAATCTGGGCACTAAAATGAGATAGAATTGGTCCTGGTCTGAATTCTCAGACACTGAAGGCCAGGGAGGATCCTTCAGCCTGCCCTCAGAGGAATCCATCAGGGTGCAGTGAAGTGTCACATCAATTCACAGGTGTTTTTCTCTGCTTAGTTATACCAAGTCAATCACCCTTATGTTGCACGCTCTCTCTTTCTCATTTACTGATGCTGAATTCAGCTGATGCTCTCCCTGGGGTGCTGAGATGGCAACAACGACTGTGGACCTTGACAACTCGGTTTATTGAGGCCAGGGCTTCTGGGAAGTCTCCCCAGCCTCAGCTGCTGAGTAACAAGGAGAAAGCTGAGGCCAGGAAGCTCTGGGAGTACAAGAACTCCGTCATCTCTCAGGTCAGAAACTCTCCAATTCCAGGGGTTAACTCTGTAACCAAGCACTCTTTGGGAACCTTTGCCTGTGGTCTTTGCTGCCCTCCCTGCCTTGGG
|
GAGGCATGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAGAAAGAAAGAAAACAGTTGGAGACATGCAGTATACATAGGGACAGCTGTGAGAAACCCCCAGCACTGTGACCATTACATTTAGAAAAACTAGTGCATAATGGATGAGATTAGGTCACACGACAACCCTGTAAATGGTAGGCAGCCTCTCCAGCCAAACATTAGAGACAGGGTTTAGGGAAGCAGTCGATGCAATTACCTCATCAAAGCAAAATATATCAAGGTTTATAACGGTCCGTGGGAGAAAAAGAAGCTGGAGAAGCAGAACTGGCAGTGTCTCTCCAGCATGGATGACAGAGGGAAAGAGCTAAATTCAGGTGCACATAGAATTCAGCCTCACAGTTAGTGAAGTGTTCTCTGTAACAGGCAAGGCTGCCCATGTATAGCTGTGCAGTTTGTGCGCTACACAAAAGAACCAAGCCAAGGCTGTGATTTCAGTAGGGCCTGAAATGCAGCCGTTTCTCAAGCCATACATTTCAGGGCAACATCTGCCAAACGAGGGTGACTTTTTCTAACTTCTCAACTTTTCTGCCCAGAAAGATACATTTTTTCCTAATTTGCATAACAGTGTTTTAAGGTCTAGACACAGCCTGGGGCAGGGTAAAGGGGCCAGTGGTTCCCTGAGTCTCACCACAGCGTGGATAAACATCTAGGACTTCAGTCTCCCCTTCTCTGCTGTCATGGGGTCAGGCAGTATTGTGAACATCTTTTCCCTTCCCACGTAGTCTTGCCTACTGGGTGAGAATACTTTGATCAGCAAGGGCAGGTTTCTGTCTCCTTCATGGATGTAACTCTCATGAAGTATGGAGTTGGCTTTTAGGTCTGTACATCGGTCCCCTGTTAGCTTGGTTGCTGTTGGAATCAGAGATTATTTGGCTGGAAGGAAAAGAAATCCACCCAAACCCAGTTGCAGAAAATAGAGCTAGGCCCCACTGCTCATAGGAAGTCACCAGCCACTCCTTTTTTCTTCTCTCTTTCTCAGCTCTCTCGTTCTTAGTTCTTCTTCCTGCTTCTCTCTGTTCTTCTGCCCTGTTCTCCTTCATCTGCCAGACTTGGATTCTCCTCTCCCCAATTTCAATTTACCAAGTGACCTTGGGTAGCTGCAGTGGCAAGTCTTGCCCCATCTCCTTAGGACCTGATGGTCCCAGTGCTCAGCAACATGGAAACTGAGTTTCTGTATCTCTTAGCTCCAATTTGTGAGATAGAGGCTTAGCCTTGCCAGGTGCTCTTACTAGTCCTCTCCAGTAGGGCTTGGCAACAAGGTCACCTCATCCAAATGCGGCCATTTAAGACCCCTTCCATCAGCACCATCTAGACCAGTGGTATGTGAGTAGGGGAGGAGACAGTTCCAAAGAATAGGGTGTGGGTGGCTGGCACCACAAAGGGACCAACACATTTACCATGAGCCCGGTAAGTGAATTCCATGTGCCCTGAGAGTATGAGATCATGTTTTGGTGACTGCAACATGGATGGGACAGGTCAGGCTGCCAACTTCCATAAGAGACCCTTAATTCATCAAGAAAATGGCAACGTGTGCGAGTTTTTCAAAATTCTTTTTTACTTTCCTTTTTTGTGTATAAATAATTCACTTGTAAAGGGGGAAATTGTTTTGTTTTATAGAAAAAGCTGGCACAGGCCATTATAACTGTCCTGTTTATTCGCGAAGGTTTGTGGGAGGAAGGTGGGCCTCATTCATTTAAAAATAAAAATATTTTTATAACAATACAGAGGGAGAGAAAGCGGCTTGTTAAGTGAATTAGTGTGATTCTTCAAATGGACACTTTCCATCGCTCACCCAGTTTTTACTTATTGATGCTATTTCTATAGAAGCAATTCACAATGACACATACCATACCTATGGATTATTTTGGCATCTAGGTTCCGTTCCTGTTCATGCAAAAATGAAAGAGAAGTTAGAGGTGACGTGGGAGAAGATGAGTAAGTCCAAACACAACGGGGTGGACCCAGAGGAAGTTGTGGAGCAGTATGGGATCGACACGATTCGGCTCTACATCCTTTTTGCTGCCCCTCCTGAGAAGGATATCTTGTGGGATGTGAAAAGTAAGTCACCTTCCTCTTCCTGACTTGCTTCCTTTGTGATCTGCCCTGGACTTTGAAGGAGTTTGAGGAAGGAAATGTCTTTGCTGAAGACAGTGGTAGAGAATTCTAGGAATCAGTTCCATAGAGCAAGTAGCAGCTTGACCAGCATCCTGCACCACTCTTAGACGGGTGTTGACAAACATAAGCGAGCCTCAGAATCATTTGGGAAACATGTTGCAGATGCAGATTCCAGTGCTCCGCCCATGCCTGCTGACACAGCCTCCAGAATGGGGCTCAGGAGGTGGCCTTTGAACAAGCTCAGCGGTGATTCCAGTGCACACTCTACGAGGACCATGCTTTGAGAGTGGTTTCCTTGGAGACAGACTGGCTTCTGAGCTACTCCTAGGCCTGCTATAGTCCAAAGAGGCCAGTTCCCTCTTTCTTGATGTACCCTGCAAGGTTTTTTCTAGAACAGTGTCATTCTCCCTCACCAATCCAGAAAGCCCCGGGAGGGGTCTGGGCCTGTTGTTACCTATGGCCTCTTAGTCACCCACAGCACCCTTCATCTCCCCACTTAGGGGAGATTTGTCTCTCCAGAGTTGTTTAGTACTAAAATGACATGAAGTAAAATAATCTTGAGTATCTGGCTATTCTAGAATAAACCCGTCCAACAGTCATTCATTTTTACTTCATGTGATCAGCCCTAAGTGTTGTTGTGGGAAGAGGAAGTCAGATGCCTGGAAACTTGAGCCTTGTGTGAAGTATCCATGTCATTTGAGAAATCACTGTTTATTTTGATTTCCAACTAGCTGTGGCTAGTGGGAAGTGTGGTCTGGAACAGTGGTCACAGATGCCAGTCCTAGAACTAGCTGCCTCAGAATCACTGGGGGGCTTGCAAAGCACAGACAGGTGGAGGTTCTGGCTCCCACCCCTAACCCAGGGGACAGGCTCCAGGAATCTTTCTAAGAAGCCTCCCAGAAGGTTCTGCTGTGCATTCAGGCTTGAGAATGCCTAGCCTAGTGGCCAGACAGTACAAGGACCTGGACTGACCCTAATTTGGCTACTGGTATAACCCAGGGCCACCAGGTAAAGCCATTCAGCTTTACCAGAAGATCAGACCAGCAGCTGGATTGGATGAGCTTGTGTAAAATATGGAAAACACACATACCTGCAAGGACAGGGATTGTGCCAATGCACTTCACACTCTACAGCAGTGTGGCTGCAAGCACAGTCATGCTATCCACAAGGTAAGAGCTTGCACCAGCAGGAGTCAGCACTGTCTCCAAAGCACCATGTTAACTCCATGGCATTTTTGTCCCAGCAAGCTTGCTTAATCAAGGCGGCGGGGCACCAGGGCTCATCTTGACCAAGCTTCTGAGCTCATGACCGTTGGTGGGTGGCACTTTGAGTGGCCCTGCCATCCAGTGCTCTGAATCTGGGCACTAAAATGAGATAGAATTGGTCCTGGTCTGAATTCTCAGACACTGAAGGCCAGGGAGGATCCTTCAGCCTGCCCTCAGAGGAATCCATCAGGGTGCAGTGAAGTGTCACATCAATTCACAGGTGTTTTTCTCTGCTTAGTTATACCAAGTCAATCACCCTTATGTTGCACGCTCTCTCTTTCTCATTTACTGATGCTGAATTCAGCTGATGCTCTCCCTGGGGTGCTGAGATGGCAACAACGACTGTGGACCTTGACAACTCGGTTTATTGAGGCCAGGGCTTCTGGGAAGTCTCCCCAGCCTCAGCTGCTGAGTAACAAGGAGAAAGCTGAGGCCAGGAAGCTCTGGGAGTACAAGAACTCCGTCATCTCTCAGGTCAGAAACTCTCCAATTCCAGGGGTTAACTCTGTAACCAAGCACTCTTTGGGAACCTTTGCCTGTGGTCTTTGCTGCCCTCCCTGCCTTGGG
|
Task1_train_6702
|
This mutation is located in gene LARS2 (leucyl-tRNA synthetase 2, mitochondrial) on Chromosome 3. Is it associated with a disease or is it a benign polymorphism?
|
Pathogenic; Perrault syndrome 4
|
CTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAGAAAGAAAGAAAACAGTTGGAGACATGCAGTATACATAGGGACAGCTGTGAGAAACCCCCAGCACTGTGACCATTACATTTAGAAAAACTAGTGCATAATGGATGAGATTAGGTCACACGACAACCCTGTAAATGGTAGGCAGCCTCTCCAGCCAAACATTAGAGACAGGGTTTAGGGAAGCAGTCGATGCAATTACCTCATCAAAGCAAAATATATCAAGGTTTATAACGGTCCGTGGGAGAAAAAGAAGCTGGAGAAGCAGAACTGGCAGTGTCTCTCCAGCATGGATGACAGAGGGAAAGAGCTAAATTCAGGTGCACATAGAATTCAGCCTCACAGTTAGTGAAGTGTTCTCTGTAACAGGCAAGGCTGCCCATGTATAGCTGTGCAGTTTGTGCGCTACACAAAAGAACCAAGCCAAGGCTGTGATTTCAGTAGGGCCTGAAATGCAGCCGTTTCTCAAGCCATACATTTCAGGGCAACATCTGCCAAACGAGGGTGACTTTTTCTAACTTCTCAACTTTTCTGCCCAGAAAGATACATTTTTTCCTAATTTGCATAACAGTGTTTTAAGGTCTAGACACAGCCTGGGGCAGGGTAAAGGGGCCAGTGGTTCCCTGAGTCTCACCACAGCGTGGATAAACATCTAGGACTTCAGTCTCCCCTTCTCTGCTGTCATGGGGTCAGGCAGTATTGTGAACATCTTTTCCCTTCCCACGTAGTCTTGCCTACTGGGTGAGAATACTTTGATCAGCAAGGGCAGGTTTCTGTCTCCTTCATGGATGTAACTCTCATGAAGTATGGAGTTGGCTTTTAGGTCTGTACATCGGTCCCCTGTTAGCTTGGTTGCTGTTGGAATCAGAGATTATTTGGCTGGAAGGAAAAGAAATCCACCCAAACCCAGTTGCAGAAAATAGAGCTAGGCCCCACTGCTCATAGGAAGTCACCAGCCACTCCTTTTTTCTTCTCTCTTTCTCAGCTCTCTCGTTCTTAGTTCTTCTTCCTGCTTCTCTCTGTTCTTCTGCCCTGTTCTCCTTCATCTGCCAGACTTGGATTCTCCTCTCCCCAATTTCAATTTACCAAGTGACCTTGGGTAGCTGCAGTGGCAAGTCTTGCCCCATCTCCTTAGGACCTGATGGTCCCAGTGCTCAGCAACATGGAAACTGAGTTTCTGTATCTCTTAGCTCCAATTTGTGAGATAGAGGCTTAGCCTTGCCAGGTGCTCTTACTAGTCCTCTCCAGTAGGGCTTGGCAACAAGGTCACCTCATCCAAATGCGGCCATTTAAGACCCCTTCCATCAGCACCATCTAGACCAGTGGTATGTGAGTAGGGGAGGAGACAGTTCCAAAGAATAGGGTGTGGGTGGCTGGCACCACAAAGGGACCAACACATTTACCATGAGCCCGGTAAGTGAATTCCATGTGCCCTGAGAGTATGAGATCATGTTTTGGTGACTGCAACATGGATGGGACAGGTCAGGCTGCCAACTTCCATAAGAGACCCTTAATTCATCAAGAAAATGGCAACGTGTGCGAGTTTTTCAAAATTCTTTTTTACTTTCCTTTTTTGTGTATAAATAATTCACTTGTAAAGGGGGAAATTGTTTTGTTTTATAGAAAAAGCTGGCACAGGCCATTATAACTGTCCTGTTTATTCGCGAAGGTTTGTGGGAGGAAGGTGGGCCTCATTCATTTAAAAATAAAAATATTTTTATAACAATACAGAGGGAGAGAAAGCGGCTTGTTAAGTGAATTAGTGTGATTCTTCAAATGGACACTTTCCATCGCTCACCCAGTTTTTACTTATTGATGCTATTTCTATAGAAGCAATTCACAATGACACATACCATACCTATGGATTATTTTGGCATCTAGGTTCCGTTCCTGTTCATGCAAAAACGAAAGAGAAGTTAGAGGTGACGTGGGAGAAGATGAGTAAGTCCAAACACAACGGGGTGGACCCAGAGGAAGTTGTGGAGCAGTATGGGATCGACACGATTCGGCTCTACATCCTTTTTGCTGCCCCTCCTGAGAAGGATATCTTGTGGGATGTGAAAAGTAAGTCACCTTCCTCTTCCTGACTTGCTTCCTTTGTGATCTGCCCTGGACTTTGAAGGAGTTTGAGGAAGGAAATGTCTTTGCTGAAGACAGTGGTAGAGAATTCTAGGAATCAGTTCCATAGAGCAAGTAGCAGCTTGACCAGCATCCTGCACCACTCTTAGACGGGTGTTGACAAACATAAGCGAGCCTCAGAATCATTTGGGAAACATGTTGCAGATGCAGATTCCAGTGCTCCGCCCATGCCTGCTGACACAGCCTCCAGAATGGGGCTCAGGAGGTGGCCTTTGAACAAGCTCAGCGGTGATTCCAGTGCACACTCTACGAGGACCATGCTTTGAGAGTGGTTTCCTTGGAGACAGACTGGCTTCTGAGCTACTCCTAGGCCTGCTATAGTCCAAAGAGGCCAGTTCCCTCTTTCTTGATGTACCCTGCAAGGTTTTTTCTAGAACAGTGTCATTCTCCCTCACCAATCCAGAAAGCCCCGGGAGGGGTCTGGGCCTGTTGTTACCTATGGCCTCTTAGTCACCCACAGCACCCTTCATCTCCCCACTTAGGGGAGATTTGTCTCTCCAGAGTTGTTTAGTACTAAAATGACATGAAGTAAAATAATCTTGAGTATCTGGCTATTCTAGAATAAACCCGTCCAACAGTCATTCATTTTTACTTCATGTGATCAGCCCTAAGTGTTGTTGTGGGAAGAGGAAGTCAGATGCCTGGAAACTTGAGCCTTGTGTGAAGTATCCATGTCATTTGAGAAATCACTGTTTATTTTGATTTCCAACTAGCTGTGGCTAGTGGGAAGTGTGGTCTGGAACAGTGGTCACAGATGCCAGTCCTAGAACTAGCTGCCTCAGAATCACTGGGGGGCTTGCAAAGCACAGACAGGTGGAGGTTCTGGCTCCCACCCCTAACCCAGGGGACAGGCTCCAGGAATCTTTCTAAGAAGCCTCCCAGAAGGTTCTGCTGTGCATTCAGGCTTGAGAATGCCTAGCCTAGTGGCCAGACAGTACAAGGACCTGGACTGACCCTAATTTGGCTACTGGTATAACCCAGGGCCACCAGGTAAAGCCATTCAGCTTTACCAGAAGATCAGACCAGCAGCTGGATTGGATGAGCTTGTGTAAAATATGGAAAACACACATACCTGCAAGGACAGGGATTGTGCCAATGCACTTCACACTCTACAGCAGTGTGGCTGCAAGCACAGTCATGCTATCCACAAGGTAAGAGCTTGCACCAGCAGGAGTCAGCACTGTCTCCAAAGCACCATGTTAACTCCATGGCATTTTTGTCCCAGCAAGCTTGCTTAATCAAGGCGGCGGGGCACCAGGGCTCATCTTGACCAAGCTTCTGAGCTCATGACCGTTGGTGGGTGGCACTTTGAGTGGCCCTGCCATCCAGTGCTCTGAATCTGGGCACTAAAATGAGATAGAATTGGTCCTGGTCTGAATTCTCAGACACTGAAGGCCAGGGAGGATCCTTCAGCCTGCCCTCAGAGGAATCCATCAGGGTGCAGTGAAGTGTCACATCAATTCACAGGTGTTTTTCTCTGCTTAGTTATACCAAGTCAATCACCCTTATGTTGCACGCTCTCTCTTTCTCATTTACTGATGCTGAATTCAGCTGATGCTCTCCCTGGGGTGCTGAGATGGCAACAACGACTGTGGACCTTGACAACTCGGTTTATTGAGGCCAGGGCTTCTGGGAAGTCTCCCCAGCCTCAGCTGCTGAGTAACAAGGAGAAAGCTGAGGCCAGGAAGCTCTGGGAGTACAAGAACTCCGTCATCTCTCAGGTCAGAAACTCTCCAATTCCAGGGGTTAACTCTGTAACCAAGCACTCTTTGGGAACCTTTGCCTGTGGTCTTTGCTGCCCTCCCTGCCTTGGGTTGGGCCACTGTGGGTCTTCCTTCCT
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CTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAGAAAGAAAGAAAACAGTTGGAGACATGCAGTATACATAGGGACAGCTGTGAGAAACCCCCAGCACTGTGACCATTACATTTAGAAAAACTAGTGCATAATGGATGAGATTAGGTCACACGACAACCCTGTAAATGGTAGGCAGCCTCTCCAGCCAAACATTAGAGACAGGGTTTAGGGAAGCAGTCGATGCAATTACCTCATCAAAGCAAAATATATCAAGGTTTATAACGGTCCGTGGGAGAAAAAGAAGCTGGAGAAGCAGAACTGGCAGTGTCTCTCCAGCATGGATGACAGAGGGAAAGAGCTAAATTCAGGTGCACATAGAATTCAGCCTCACAGTTAGTGAAGTGTTCTCTGTAACAGGCAAGGCTGCCCATGTATAGCTGTGCAGTTTGTGCGCTACACAAAAGAACCAAGCCAAGGCTGTGATTTCAGTAGGGCCTGAAATGCAGCCGTTTCTCAAGCCATACATTTCAGGGCAACATCTGCCAAACGAGGGTGACTTTTTCTAACTTCTCAACTTTTCTGCCCAGAAAGATACATTTTTTCCTAATTTGCATAACAGTGTTTTAAGGTCTAGACACAGCCTGGGGCAGGGTAAAGGGGCCAGTGGTTCCCTGAGTCTCACCACAGCGTGGATAAACATCTAGGACTTCAGTCTCCCCTTCTCTGCTGTCATGGGGTCAGGCAGTATTGTGAACATCTTTTCCCTTCCCACGTAGTCTTGCCTACTGGGTGAGAATACTTTGATCAGCAAGGGCAGGTTTCTGTCTCCTTCATGGATGTAACTCTCATGAAGTATGGAGTTGGCTTTTAGGTCTGTACATCGGTCCCCTGTTAGCTTGGTTGCTGTTGGAATCAGAGATTATTTGGCTGGAAGGAAAAGAAATCCACCCAAACCCAGTTGCAGAAAATAGAGCTAGGCCCCACTGCTCATAGGAAGTCACCAGCCACTCCTTTTTTCTTCTCTCTTTCTCAGCTCTCTCGTTCTTAGTTCTTCTTCCTGCTTCTCTCTGTTCTTCTGCCCTGTTCTCCTTCATCTGCCAGACTTGGATTCTCCTCTCCCCAATTTCAATTTACCAAGTGACCTTGGGTAGCTGCAGTGGCAAGTCTTGCCCCATCTCCTTAGGACCTGATGGTCCCAGTGCTCAGCAACATGGAAACTGAGTTTCTGTATCTCTTAGCTCCAATTTGTGAGATAGAGGCTTAGCCTTGCCAGGTGCTCTTACTAGTCCTCTCCAGTAGGGCTTGGCAACAAGGTCACCTCATCCAAATGCGGCCATTTAAGACCCCTTCCATCAGCACCATCTAGACCAGTGGTATGTGAGTAGGGGAGGAGACAGTTCCAAAGAATAGGGTGTGGGTGGCTGGCACCACAAAGGGACCAACACATTTACCATGAGCCCGGTAAGTGAATTCCATGTGCCCTGAGAGTATGAGATCATGTTTTGGTGACTGCAACATGGATGGGACAGGTCAGGCTGCCAACTTCCATAAGAGACCCTTAATTCATCAAGAAAATGGCAACGTGTGCGAGTTTTTCAAAATTCTTTTTTACTTTCCTTTTTTGTGTATAAATAATTCACTTGTAAAGGGGGAAATTGTTTTGTTTTATAGAAAAAGCTGGCACAGGCCATTATAACTGTCCTGTTTATTCGCGAAGGTTTGTGGGAGGAAGGTGGGCCTCATTCATTTAAAAATAAAAATATTTTTATAACAATACAGAGGGAGAGAAAGCGGCTTGTTAAGTGAATTAGTGTGATTCTTCAAATGGACACTTTCCATCGCTCACCCAGTTTTTACTTATTGATGCTATTTCTATAGAAGCAATTCACAATGACACATACCATACCTATGGATTATTTTGGCATCTAGGTTCCGTTCCTGTTCATGCAAAAACGAAAGAGAAGTTAGAGGTGACGTGGAAGAAGATGAGTAAGTCCAAACACAACGGGGTGGACCCAGAGGAAGTTGTGGAGCAGTATGGGATCGACACGATTCGGCTCTACATCCTTTTTGCTGCCCCTCCTGAGAAGGATATCTTGTGGGATGTGAAAAGTAAGTCACCTTCCTCTTCCTGACTTGCTTCCTTTGTGATCTGCCCTGGACTTTGAAGGAGTTTGAGGAAGGAAATGTCTTTGCTGAAGACAGTGGTAGAGAATTCTAGGAATCAGTTCCATAGAGCAAGTAGCAGCTTGACCAGCATCCTGCACCACTCTTAGACGGGTGTTGACAAACATAAGCGAGCCTCAGAATCATTTGGGAAACATGTTGCAGATGCAGATTCCAGTGCTCCGCCCATGCCTGCTGACACAGCCTCCAGAATGGGGCTCAGGAGGTGGCCTTTGAACAAGCTCAGCGGTGATTCCAGTGCACACTCTACGAGGACCATGCTTTGAGAGTGGTTTCCTTGGAGACAGACTGGCTTCTGAGCTACTCCTAGGCCTGCTATAGTCCAAAGAGGCCAGTTCCCTCTTTCTTGATGTACCCTGCAAGGTTTTTTCTAGAACAGTGTCATTCTCCCTCACCAATCCAGAAAGCCCCGGGAGGGGTCTGGGCCTGTTGTTACCTATGGCCTCTTAGTCACCCACAGCACCCTTCATCTCCCCACTTAGGGGAGATTTGTCTCTCCAGAGTTGTTTAGTACTAAAATGACATGAAGTAAAATAATCTTGAGTATCTGGCTATTCTAGAATAAACCCGTCCAACAGTCATTCATTTTTACTTCATGTGATCAGCCCTAAGTGTTGTTGTGGGAAGAGGAAGTCAGATGCCTGGAAACTTGAGCCTTGTGTGAAGTATCCATGTCATTTGAGAAATCACTGTTTATTTTGATTTCCAACTAGCTGTGGCTAGTGGGAAGTGTGGTCTGGAACAGTGGTCACAGATGCCAGTCCTAGAACTAGCTGCCTCAGAATCACTGGGGGGCTTGCAAAGCACAGACAGGTGGAGGTTCTGGCTCCCACCCCTAACCCAGGGGACAGGCTCCAGGAATCTTTCTAAGAAGCCTCCCAGAAGGTTCTGCTGTGCATTCAGGCTTGAGAATGCCTAGCCTAGTGGCCAGACAGTACAAGGACCTGGACTGACCCTAATTTGGCTACTGGTATAACCCAGGGCCACCAGGTAAAGCCATTCAGCTTTACCAGAAGATCAGACCAGCAGCTGGATTGGATGAGCTTGTGTAAAATATGGAAAACACACATACCTGCAAGGACAGGGATTGTGCCAATGCACTTCACACTCTACAGCAGTGTGGCTGCAAGCACAGTCATGCTATCCACAAGGTAAGAGCTTGCACCAGCAGGAGTCAGCACTGTCTCCAAAGCACCATGTTAACTCCATGGCATTTTTGTCCCAGCAAGCTTGCTTAATCAAGGCGGCGGGGCACCAGGGCTCATCTTGACCAAGCTTCTGAGCTCATGACCGTTGGTGGGTGGCACTTTGAGTGGCCCTGCCATCCAGTGCTCTGAATCTGGGCACTAAAATGAGATAGAATTGGTCCTGGTCTGAATTCTCAGACACTGAAGGCCAGGGAGGATCCTTCAGCCTGCCCTCAGAGGAATCCATCAGGGTGCAGTGAAGTGTCACATCAATTCACAGGTGTTTTTCTCTGCTTAGTTATACCAAGTCAATCACCCTTATGTTGCACGCTCTCTCTTTCTCATTTACTGATGCTGAATTCAGCTGATGCTCTCCCTGGGGTGCTGAGATGGCAACAACGACTGTGGACCTTGACAACTCGGTTTATTGAGGCCAGGGCTTCTGGGAAGTCTCCCCAGCCTCAGCTGCTGAGTAACAAGGAGAAAGCTGAGGCCAGGAAGCTCTGGGAGTACAAGAACTCCGTCATCTCTCAGGTCAGAAACTCTCCAATTCCAGGGGTTAACTCTGTAACCAAGCACTCTTTGGGAACCTTTGCCTGTGGTCTTTGCTGCCCTCCCTGCCTTGGGTTGGGCCACTGTGGGTCTTCCTTCCT
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Task1_train_6703
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A variant affecting Chromosome 3, within the gene LARS2 (leucyl-tRNA synthetase 2, mitochondrial), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Perrault syndrome 4
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ACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAGAAAGAAAGAAAACAGTTGGAGACATGCAGTATACATAGGGACAGCTGTGAGAAACCCCCAGCACTGTGACCATTACATTTAGAAAAACTAGTGCATAATGGATGAGATTAGGTCACACGACAACCCTGTAAATGGTAGGCAGCCTCTCCAGCCAAACATTAGAGACAGGGTTTAGGGAAGCAGTCGATGCAATTACCTCATCAAAGCAAAATATATCAAGGTTTATAACGGTCCGTGGGAGAAAAAGAAGCTGGAGAAGCAGAACTGGCAGTGTCTCTCCAGCATGGATGACAGAGGGAAAGAGCTAAATTCAGGTGCACATAGAATTCAGCCTCACAGTTAGTGAAGTGTTCTCTGTAACAGGCAAGGCTGCCCATGTATAGCTGTGCAGTTTGTGCGCTACACAAAAGAACCAAGCCAAGGCTGTGATTTCAGTAGGGCCTGAAATGCAGCCGTTTCTCAAGCCATACATTTCAGGGCAACATCTGCCAAACGAGGGTGACTTTTTCTAACTTCTCAACTTTTCTGCCCAGAAAGATACATTTTTTCCTAATTTGCATAACAGTGTTTTAAGGTCTAGACACAGCCTGGGGCAGGGTAAAGGGGCCAGTGGTTCCCTGAGTCTCACCACAGCGTGGATAAACATCTAGGACTTCAGTCTCCCCTTCTCTGCTGTCATGGGGTCAGGCAGTATTGTGAACATCTTTTCCCTTCCCACGTAGTCTTGCCTACTGGGTGAGAATACTTTGATCAGCAAGGGCAGGTTTCTGTCTCCTTCATGGATGTAACTCTCATGAAGTATGGAGTTGGCTTTTAGGTCTGTACATCGGTCCCCTGTTAGCTTGGTTGCTGTTGGAATCAGAGATTATTTGGCTGGAAGGAAAAGAAATCCACCCAAACCCAGTTGCAGAAAATAGAGCTAGGCCCCACTGCTCATAGGAAGTCACCAGCCACTCCTTTTTTCTTCTCTCTTTCTCAGCTCTCTCGTTCTTAGTTCTTCTTCCTGCTTCTCTCTGTTCTTCTGCCCTGTTCTCCTTCATCTGCCAGACTTGGATTCTCCTCTCCCCAATTTCAATTTACCAAGTGACCTTGGGTAGCTGCAGTGGCAAGTCTTGCCCCATCTCCTTAGGACCTGATGGTCCCAGTGCTCAGCAACATGGAAACTGAGTTTCTGTATCTCTTAGCTCCAATTTGTGAGATAGAGGCTTAGCCTTGCCAGGTGCTCTTACTAGTCCTCTCCAGTAGGGCTTGGCAACAAGGTCACCTCATCCAAATGCGGCCATTTAAGACCCCTTCCATCAGCACCATCTAGACCAGTGGTATGTGAGTAGGGGAGGAGACAGTTCCAAAGAATAGGGTGTGGGTGGCTGGCACCACAAAGGGACCAACACATTTACCATGAGCCCGGTAAGTGAATTCCATGTGCCCTGAGAGTATGAGATCATGTTTTGGTGACTGCAACATGGATGGGACAGGTCAGGCTGCCAACTTCCATAAGAGACCCTTAATTCATCAAGAAAATGGCAACGTGTGCGAGTTTTTCAAAATTCTTTTTTACTTTCCTTTTTTGTGTATAAATAATTCACTTGTAAAGGGGGAAATTGTTTTGTTTTATAGAAAAAGCTGGCACAGGCCATTATAACTGTCCTGTTTATTCGCGAAGGTTTGTGGGAGGAAGGTGGGCCTCATTCATTTAAAAATAAAAATATTTTTATAACAATACAGAGGGAGAGAAAGCGGCTTGTTAAGTGAATTAGTGTGATTCTTCAAATGGACACTTTCCATCGCTCACCCAGTTTTTACTTATTGATGCTATTTCTATAGAAGCAATTCACAATGACACATACCATACCTATGGATTATTTTGGCATCTAGGTTCCGTTCCTGTTCATGCAAAAACGAAAGAGAAGTTAGAGGTGACGTGGGAGAAGATGAGTAAGTCCAAACACAACGGGGTGGACCCAGAGGAAGTTGTGGAGCAGTATGGGATCGACACGATTCGGCTCTACATCCTTTTTGCTGCCCCTCCTGAGAAGGATATCTTGTGGGATGTGAAAAGTAAGTCACCTTCCTCTTCCTGACTTGCTTCCTTTGTGATCTGCCCTGGACTTTGAAGGAGTTTGAGGAAGGAAATGTCTTTGCTGAAGACAGTGGTAGAGAATTCTAGGAATCAGTTCCATAGAGCAAGTAGCAGCTTGACCAGCATCCTGCACCACTCTTAGACGGGTGTTGACAAACATAAGCGAGCCTCAGAATCATTTGGGAAACATGTTGCAGATGCAGATTCCAGTGCTCCGCCCATGCCTGCTGACACAGCCTCCAGAATGGGGCTCAGGAGGTGGCCTTTGAACAAGCTCAGCGGTGATTCCAGTGCACACTCTACGAGGACCATGCTTTGAGAGTGGTTTCCTTGGAGACAGACTGGCTTCTGAGCTACTCCTAGGCCTGCTATAGTCCAAAGAGGCCAGTTCCCTCTTTCTTGATGTACCCTGCAAGGTTTTTTCTAGAACAGTGTCATTCTCCCTCACCAATCCAGAAAGCCCCGGGAGGGGTCTGGGCCTGTTGTTACCTATGGCCTCTTAGTCACCCACAGCACCCTTCATCTCCCCACTTAGGGGAGATTTGTCTCTCCAGAGTTGTTTAGTACTAAAATGACATGAAGTAAAATAATCTTGAGTATCTGGCTATTCTAGAATAAACCCGTCCAACAGTCATTCATTTTTACTTCATGTGATCAGCCCTAAGTGTTGTTGTGGGAAGAGGAAGTCAGATGCCTGGAAACTTGAGCCTTGTGTGAAGTATCCATGTCATTTGAGAAATCACTGTTTATTTTGATTTCCAACTAGCTGTGGCTAGTGGGAAGTGTGGTCTGGAACAGTGGTCACAGATGCCAGTCCTAGAACTAGCTGCCTCAGAATCACTGGGGGGCTTGCAAAGCACAGACAGGTGGAGGTTCTGGCTCCCACCCCTAACCCAGGGGACAGGCTCCAGGAATCTTTCTAAGAAGCCTCCCAGAAGGTTCTGCTGTGCATTCAGGCTTGAGAATGCCTAGCCTAGTGGCCAGACAGTACAAGGACCTGGACTGACCCTAATTTGGCTACTGGTATAACCCAGGGCCACCAGGTAAAGCCATTCAGCTTTACCAGAAGATCAGACCAGCAGCTGGATTGGATGAGCTTGTGTAAAATATGGAAAACACACATACCTGCAAGGACAGGGATTGTGCCAATGCACTTCACACTCTACAGCAGTGTGGCTGCAAGCACAGTCATGCTATCCACAAGGTAAGAGCTTGCACCAGCAGGAGTCAGCACTGTCTCCAAAGCACCATGTTAACTCCATGGCATTTTTGTCCCAGCAAGCTTGCTTAATCAAGGCGGCGGGGCACCAGGGCTCATCTTGACCAAGCTTCTGAGCTCATGACCGTTGGTGGGTGGCACTTTGAGTGGCCCTGCCATCCAGTGCTCTGAATCTGGGCACTAAAATGAGATAGAATTGGTCCTGGTCTGAATTCTCAGACACTGAAGGCCAGGGAGGATCCTTCAGCCTGCCCTCAGAGGAATCCATCAGGGTGCAGTGAAGTGTCACATCAATTCACAGGTGTTTTTCTCTGCTTAGTTATACCAAGTCAATCACCCTTATGTTGCACGCTCTCTCTTTCTCATTTACTGATGCTGAATTCAGCTGATGCTCTCCCTGGGGTGCTGAGATGGCAACAACGACTGTGGACCTTGACAACTCGGTTTATTGAGGCCAGGGCTTCTGGGAAGTCTCCCCAGCCTCAGCTGCTGAGTAACAAGGAGAAAGCTGAGGCCAGGAAGCTCTGGGAGTACAAGAACTCCGTCATCTCTCAGGTCAGAAACTCTCCAATTCCAGGGGTTAACTCTGTAACCAAGCACTCTTTGGGAACCTTTGCCTGTGGTCTTTGCTGCCCTCCCTGCCTTGGGTTGGGCCACTGTGGGTCTTCCTTCCTGGCAATGGCGGTCCTTCTTGCTTTGATTGATTGGCCCTACTGTTTTGGGTACTTTACCAAGGTGGATCAACAGTG
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ACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAGAAAGAAAGAAAACAGTTGGAGACATGCAGTATACATAGGGACAGCTGTGAGAAACCCCCAGCACTGTGACCATTACATTTAGAAAAACTAGTGCATAATGGATGAGATTAGGTCACACGACAACCCTGTAAATGGTAGGCAGCCTCTCCAGCCAAACATTAGAGACAGGGTTTAGGGAAGCAGTCGATGCAATTACCTCATCAAAGCAAAATATATCAAGGTTTATAACGGTCCGTGGGAGAAAAAGAAGCTGGAGAAGCAGAACTGGCAGTGTCTCTCCAGCATGGATGACAGAGGGAAAGAGCTAAATTCAGGTGCACATAGAATTCAGCCTCACAGTTAGTGAAGTGTTCTCTGTAACAGGCAAGGCTGCCCATGTATAGCTGTGCAGTTTGTGCGCTACACAAAAGAACCAAGCCAAGGCTGTGATTTCAGTAGGGCCTGAAATGCAGCCGTTTCTCAAGCCATACATTTCAGGGCAACATCTGCCAAACGAGGGTGACTTTTTCTAACTTCTCAACTTTTCTGCCCAGAAAGATACATTTTTTCCTAATTTGCATAACAGTGTTTTAAGGTCTAGACACAGCCTGGGGCAGGGTAAAGGGGCCAGTGGTTCCCTGAGTCTCACCACAGCGTGGATAAACATCTAGGACTTCAGTCTCCCCTTCTCTGCTGTCATGGGGTCAGGCAGTATTGTGAACATCTTTTCCCTTCCCACGTAGTCTTGCCTACTGGGTGAGAATACTTTGATCAGCAAGGGCAGGTTTCTGTCTCCTTCATGGATGTAACTCTCATGAAGTATGGAGTTGGCTTTTAGGTCTGTACATCGGTCCCCTGTTAGCTTGGTTGCTGTTGGAATCAGAGATTATTTGGCTGGAAGGAAAAGAAATCCACCCAAACCCAGTTGCAGAAAATAGAGCTAGGCCCCACTGCTCATAGGAAGTCACCAGCCACTCCTTTTTTCTTCTCTCTTTCTCAGCTCTCTCGTTCTTAGTTCTTCTTCCTGCTTCTCTCTGTTCTTCTGCCCTGTTCTCCTTCATCTGCCAGACTTGGATTCTCCTCTCCCCAATTTCAATTTACCAAGTGACCTTGGGTAGCTGCAGTGGCAAGTCTTGCCCCATCTCCTTAGGACCTGATGGTCCCAGTGCTCAGCAACATGGAAACTGAGTTTCTGTATCTCTTAGCTCCAATTTGTGAGATAGAGGCTTAGCCTTGCCAGGTGCTCTTACTAGTCCTCTCCAGTAGGGCTTGGCAACAAGGTCACCTCATCCAAATGCGGCCATTTAAGACCCCTTCCATCAGCACCATCTAGACCAGTGGTATGTGAGTAGGGGAGGAGACAGTTCCAAAGAATAGGGTGTGGGTGGCTGGCACCACAAAGGGACCAACACATTTACCATGAGCCCGGTAAGTGAATTCCATGTGCCCTGAGAGTATGAGATCATGTTTTGGTGACTGCAACATGGATGGGACAGGTCAGGCTGCCAACTTCCATAAGAGACCCTTAATTCATCAAGAAAATGGCAACGTGTGCGAGTTTTTCAAAATTCTTTTTTACTTTCCTTTTTTGTGTATAAATAATTCACTTGTAAAGGGGGAAATTGTTTTGTTTTATAGAAAAAGCTGGCACAGGCCATTATAACTGTCCTGTTTATTCGCGAAGGTTTGTGGGAGGAAGGTGGGCCTCATTCATTTAAAAATAAAAATATTTTTATAACAATACAGAGGGAGAGAAAGCGGCTTGTTAAGTGAATTAGTGTGATTCTTCAAATGGACACTTTCCATCGCTCACCCAGTTTTTACTTATTGATGCTATTTCTATAGAAGCAATTCACAATGACACATACCATACCTATGGATTATTTTGGCATCTAGGTTCCGTTCCTGTTCATGCAAAAACGAAAGAGAAGTTAGAGGTGACGTGGGAGAAGATGAGTAAGTCCAAACACAACGGGGTGGACCCAGAGGAAGTTGTGGAGCAGTATGGGATCGACACGATTTGGCTCTACATCCTTTTTGCTGCCCCTCCTGAGAAGGATATCTTGTGGGATGTGAAAAGTAAGTCACCTTCCTCTTCCTGACTTGCTTCCTTTGTGATCTGCCCTGGACTTTGAAGGAGTTTGAGGAAGGAAATGTCTTTGCTGAAGACAGTGGTAGAGAATTCTAGGAATCAGTTCCATAGAGCAAGTAGCAGCTTGACCAGCATCCTGCACCACTCTTAGACGGGTGTTGACAAACATAAGCGAGCCTCAGAATCATTTGGGAAACATGTTGCAGATGCAGATTCCAGTGCTCCGCCCATGCCTGCTGACACAGCCTCCAGAATGGGGCTCAGGAGGTGGCCTTTGAACAAGCTCAGCGGTGATTCCAGTGCACACTCTACGAGGACCATGCTTTGAGAGTGGTTTCCTTGGAGACAGACTGGCTTCTGAGCTACTCCTAGGCCTGCTATAGTCCAAAGAGGCCAGTTCCCTCTTTCTTGATGTACCCTGCAAGGTTTTTTCTAGAACAGTGTCATTCTCCCTCACCAATCCAGAAAGCCCCGGGAGGGGTCTGGGCCTGTTGTTACCTATGGCCTCTTAGTCACCCACAGCACCCTTCATCTCCCCACTTAGGGGAGATTTGTCTCTCCAGAGTTGTTTAGTACTAAAATGACATGAAGTAAAATAATCTTGAGTATCTGGCTATTCTAGAATAAACCCGTCCAACAGTCATTCATTTTTACTTCATGTGATCAGCCCTAAGTGTTGTTGTGGGAAGAGGAAGTCAGATGCCTGGAAACTTGAGCCTTGTGTGAAGTATCCATGTCATTTGAGAAATCACTGTTTATTTTGATTTCCAACTAGCTGTGGCTAGTGGGAAGTGTGGTCTGGAACAGTGGTCACAGATGCCAGTCCTAGAACTAGCTGCCTCAGAATCACTGGGGGGCTTGCAAAGCACAGACAGGTGGAGGTTCTGGCTCCCACCCCTAACCCAGGGGACAGGCTCCAGGAATCTTTCTAAGAAGCCTCCCAGAAGGTTCTGCTGTGCATTCAGGCTTGAGAATGCCTAGCCTAGTGGCCAGACAGTACAAGGACCTGGACTGACCCTAATTTGGCTACTGGTATAACCCAGGGCCACCAGGTAAAGCCATTCAGCTTTACCAGAAGATCAGACCAGCAGCTGGATTGGATGAGCTTGTGTAAAATATGGAAAACACACATACCTGCAAGGACAGGGATTGTGCCAATGCACTTCACACTCTACAGCAGTGTGGCTGCAAGCACAGTCATGCTATCCACAAGGTAAGAGCTTGCACCAGCAGGAGTCAGCACTGTCTCCAAAGCACCATGTTAACTCCATGGCATTTTTGTCCCAGCAAGCTTGCTTAATCAAGGCGGCGGGGCACCAGGGCTCATCTTGACCAAGCTTCTGAGCTCATGACCGTTGGTGGGTGGCACTTTGAGTGGCCCTGCCATCCAGTGCTCTGAATCTGGGCACTAAAATGAGATAGAATTGGTCCTGGTCTGAATTCTCAGACACTGAAGGCCAGGGAGGATCCTTCAGCCTGCCCTCAGAGGAATCCATCAGGGTGCAGTGAAGTGTCACATCAATTCACAGGTGTTTTTCTCTGCTTAGTTATACCAAGTCAATCACCCTTATGTTGCACGCTCTCTCTTTCTCATTTACTGATGCTGAATTCAGCTGATGCTCTCCCTGGGGTGCTGAGATGGCAACAACGACTGTGGACCTTGACAACTCGGTTTATTGAGGCCAGGGCTTCTGGGAAGTCTCCCCAGCCTCAGCTGCTGAGTAACAAGGAGAAAGCTGAGGCCAGGAAGCTCTGGGAGTACAAGAACTCCGTCATCTCTCAGGTCAGAAACTCTCCAATTCCAGGGGTTAACTCTGTAACCAAGCACTCTTTGGGAACCTTTGCCTGTGGTCTTTGCTGCCCTCCCTGCCTTGGGTTGGGCCACTGTGGGTCTTCCTTCCTGGCAATGGCGGTCCTTCTTGCTTTGATTGATTGGCCCTACTGTTTTGGGTACTTTACCAAGGTGGATCAACAGTG
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Task1_train_6704
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This alteration in LZTFL1 (leucine zipper transcription factor like 1) on Chromosome 3 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Bardet-Biedl syndrome 17
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TATATTAAAAATAAAATAATTCATGCCCTCTGATCCAGAAATTTCTTAGCCATAAATATGACCCAAAGGAATAACTGGAAAGTATTTTGCATGTGTATGTACATAGATTCATCTCAGCAGTATTTATCCAACAATGGAGTATTTACGGTGTGCCCGTGAAGTGGAATGGTAAGTGGCCACTCCAATTAATGAGAATGATTAGAAAGAGAGGTAGATAACTACTAGTATTGTCTCCATTTGTCAGATGAGTAAAATGAAGCTCAGCTACCTCAGATAACCTGCTCAAGGTAACACAGCCAGGAAGTGACAGAGCCAGGATGTATACCCAGGTGTGGCTGACCCTACAGCCTGCGCTCTGAATCTTCTGAGTAGAGTATTTATGAGTGGGATTGAGACTGAACTTAGGGATCATGTGTATGTGTAAGCCATCACAGACAAAAGCAGTTTTTCACAGTTACTTCCAAAACATTTTTTCTTTTGCCTGAAAATATGATAGACAATTTCTGAATTTTACTCTTGAATTGAATGCTTTTCCTTAAGAGTTCTCAGTTTTGATCTCTGAATTCTTTGAGCAACTTGAGGATTTTAAATACTGGCTATTAAGATATGGATTTAGAATGACCAAAAAGTTACCTTTTTGTTTGAAGATGTAATCTCTGCTTTTTCAAATTCTGCAACTTGTTCTAATAATTCTCTTGAAGAAGAAAGCAAAGATAAAAATTATTCATTTAAAATAGATTTATATCACACGCAAGAAGAGTAAAATCACTGGTACCAACCCATTACATGCCAGAGAGAACAGAGCAAGATGGACCAAACTTCACCATATCAAAAATGTTAGTTGCAAATGGTTGAGAACCTAAACCACATGGACTCAAATGTAATCATCCACAGTACCTGGCATTTTGTATCTACTAGGTATGCAATATCTACTGCTAGAAATAAACCATAATGTTAATACAAATATGAGGAAAATTTATAGTCAACTTTGTATTCTTGAGGTGCTATGAGGAGACTGTTTTATTACATAATGTGTATTGTTAGCTAGTAGGTGTTCAAAAAAGATTCTTAATAAAGTAGTCTCAGAAAAATGAAAATAGTCCATAGTATCTACTGAAAAAGAGTACCACAAATTCCTAGGAAAGACAGATAGTGGGGGTGTGCCATCTGAAGATTTGCAAAGGCCAATGAGAAGTGACTACACACAAGCTTAGAGTGTTAACAGCAGTCAGCTTCTAAGCTTCTTAAAGCACCACCTTCTCAGAGTTTTCTCACCAGTCATCTACTGACAGTGGCAGAAGTTCAATGATTTTCCTCCCCAGCTCATAGGTTGTCCTCAGCGTTGTTCAACACTCTGCATGTGAACTGATGTGCTGTGACTGTGCTTAGAGTAGTTCACGGGGCTTGGCGGTCAGTCCTTCCTGATTTCTGGCATGCTTTTTCTTAAAATGAGTTTCAACTTCACCAATTTTACCATATTTTTTGAATTTGAGCTCTTAGATGTCCATATTATAAGCTTTTTTGTATATTTCCTATTTCAAAGTTAATAAATGTATACTTTTAAATTCCATTATTTAGAAAACTTCCAATGCTACTGGATTGAATTGATGGTATTTATTATATTTGAATTGACTTTTCAACTGTCTCATAATCTCTATTTCTTAGTTGACCAATCTATAAAGACTGATGGTAATACTGACCAAGCTAACAAAAATGCTGTAAGAAATAATTAATGATAGCCTGAAAAGCAATTTCATAAATCTCGATGGCCTTTGTAATACCTAGGAACAGTAGAAACAGAGAACTTTTAAAAGGGTGCTTAGTGGTACCCAAGAGATCACTCAGTGACTCAATGCTTTGCTGTTACCCTACCCAAATTTCCTCACACACTAGCCCCAAGAAAATATGCAGCCAAAGATGTTCACTAACTTTTAAGATTATGCTTGGGCCATTATTGTCACAGTTGCAAGTTCAAATTTTATTACCGGTTTTCAAGTTCAGAGATGTCTGTCTGTAGCTTAAGATACCACTTCTCAGCTTGTGCAAACAGCTGTCGCAGAAGTAACACATTGGTATAGGCAGTGTTGATGAGCTCAGATTCCACCTCACTATGAACCACAGCTTGTAATCCATTGAGGACTTCAGAGACTTCATCTATGGTGAAGGTGTCCTCCACCAGCCTGAAAAACAACCATGATCCAAAACTTATAGAAAAACAACAAGAAAAATCTACAAAATACAGCAAAATTAAGAAACCCACATTCATGTAATCTAAGAAATTCAAAGATTACAGTGAAAATCTCTCTGGGAACTATCTTCTTTATTAATAAACATTGAAAATAATTTAAACTCAATTAATTTTTGACATCTATTCAAATGATTAAATTGTGCACATCCTTTAATACAAGTAAATGCTCAAACACATTCCCAAAACCATCATCTACTTTTTTAACTTTTTAGTATTAAATGTCTTATTTCAAACTCCACTGAAATCAGTCTTATTACATTTAATAATTTCAAAAGTCACCCGGAAGGCATAGTCTCATTTCTTTCTAATATTTCTCTAACATTTTAATAACTGTATGAACTATTCACAGGTTAGTAAACGTCTATGGGAAATAAATGGTAATTATATATATTGCTTCTCTTTGCATTCTTGAGACCCAAAATAATAATAATAATAAAAACTAGCTTATCTTAAAGTTCTACTGAACACTCCACAAAAATGAATATCATCATCAACAATAGCATTAGAAATCTACTCTCAGGGCCAGGCATGGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCAGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAATCTGGCCAACACAGCAAAAACTCTTCTCTATTAAAAATACAAAAAATTACCTGGGTGTGGTGGCACGTGCCTTAATCTTAGCTACTTAGGAGGCTGAGGCAGGAGAATCGCTTGTAACCAGAAGGTGGAGGTTGCAGTGAGCCGACATCATGCCACCGCACTCCAGCCTGGGCGACAAAGTGAGACTCCGTCTCAAAAAAACAAACAAAAAAACAAAACTACTCTTACATAGAGAATGCTTGGGTTGGAAGAGAACTTTGGTGCCATCTTCTACAATCCCCTAACTTTACAGATAGGAACACAGGTTTGAAGAGTGGAGATGACTTGCCTATGGTTACATTGGTGGTGACTAAACCCCACAATCATCTTCAGCAATGATTCTGGGCAAAGGATTCATGCCCAACAGCTAAATCCTTGAAAAAGCTTCTGTGTGTGCCTTCCAGTTTCAATGACAGTATCACAGTAACACAGTCCTCTCCTCTCCCTACCTCTACCCTCCAAAGTCCCTTCTCCCTCAGATTCTCAGCAGATGAAGAGCAGCTACCGCAACCTCAGCTTTATTTTCTTCCCTACTTCCAAAAAGACATCATCAAGCAAGACCCAGTTACACTAAAGCATTATCATAGTTAAACTCAAGTTAATAGTATTTGTTTTATAATTCTTTAATGTTTCATCTAGCCAGCAGAATTTAGTCATTCTCAAAAAACCACAACTTTTTAAATATAAATCCTTATTAAAATATTAATAATCTTTCTATATTCTTCAATAGAACATATGTTCTCGCCAATTAAATTGTTGCTTTCATCTGCTGGGGGATAGGAAACCAGATTACCAGATGAGTTTAATGGACTGAATGGTCTAAGGCTGATGGCCTCTAATACTGAGACATTCATGAGTTTATGGCAGCTGGAGCTCACTTGGAGGTCTTTTTCACTTATATCTGACTTGACATTCATCTCTTGCTACAAATCAGCTACGGTCCAACCATTATCATCTCATGCTAGAAATCAACTAACAATTTTGGTACTAGTCAGCATTATGATTTCCTGCTGTTTTCCTCTCTACTAATTATTCAGTATGAAACACAGAAGTGTTTTCTCACTAATTGCCATGTCTTATAGCTCTAACCATTTAATTAATAACTCAAGTAATTAAAGTTCTGGAATCTTCAATACAACAAGCCAATCATTAATCCACAAACCCTTGGCAACTTCCTTCTCAAACTCTGCCATCCTACAAT
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TATATTAAAAATAAAATAATTCATGCCCTCTGATCCAGAAATTTCTTAGCCATAAATATGACCCAAAGGAATAACTGGAAAGTATTTTGCATGTGTATGTACATAGATTCATCTCAGCAGTATTTATCCAACAATGGAGTATTTACGGTGTGCCCGTGAAGTGGAATGGTAAGTGGCCACTCCAATTAATGAGAATGATTAGAAAGAGAGGTAGATAACTACTAGTATTGTCTCCATTTGTCAGATGAGTAAAATGAAGCTCAGCTACCTCAGATAACCTGCTCAAGGTAACACAGCCAGGAAGTGACAGAGCCAGGATGTATACCCAGGTGTGGCTGACCCTACAGCCTGCGCTCTGAATCTTCTGAGTAGAGTATTTATGAGTGGGATTGAGACTGAACTTAGGGATCATGTGTATGTGTAAGCCATCACAGACAAAAGCAGTTTTTCACAGTTACTTCCAAAACATTTTTTCTTTTGCCTGAAAATATGATAGACAATTTCTGAATTTTACTCTTGAATTGAATGCTTTTCCTTAAGAGTTCTCAGTTTTGATCTCTGAATTCTTTGAGCAACTTGAGGATTTTAAATACTGGCTATTAAGATATGGATTTAGAATGACCAAAAAGTTACCTTTTTGTTTGAAGATGTAATCTCTGCTTTTTCAAATTCTGCAACTTGTTCTAATAATTCTCTTGAAGAAGAAAGCAAAGATAAAAATTATTCATTTAAAATAGATTTATATCACACGCAAGAAGAGTAAAATCACTGGTACCAACCCATTACATGCCAGAGAGAACAGAGCAAGATGGACCAAACTTCACCATATCAAAAATGTTAGTTGCAAATGGTTGAGAACCTAAACCACATGGACTCAAATGTAATCATCCACAGTACCTGGCATTTTGTATCTACTAGGTATGCAATATCTACTGCTAGAAATAAACCATAATGTTAATACAAATATGAGGAAAATTTATAGTCAACTTTGTATTCTTGAGGTGCTATGAGGAGACTGTTTTATTACATAATGTGTATTGTTAGCTAGTAGGTGTTCAAAAAAGATTCTTAATAAAGTAGTCTCAGAAAAATGAAAATAGTCCATAGTATCTACTGAAAAAGAGTACCACAAATTCCTAGGAAAGACAGATAGTGGGGGTGTGCCATCTGAAGATTTGCAAAGGCCAATGAGAAGTGACTACACACAAGCTTAGAGTGTTAACAGCAGTCAGCTTCTAAGCTTCTTAAAGCACCACCTTCTCAGAGTTTTCTCACCAGTCATCTACTGACAGTGGCAGAAGTTCAATGATTTTCCTCCCCAGCTCATAGGTTGTCCTCAGCGTTGTTCAACACTCTGCATGTGAACTGATGTGCTGTGACTGTGCTTAGAGTAGTTCACGGGGCTTGGCGGTCAGTCCTTCCTGATTTCTGGCATGCTTTTTCTTAAAATGAGTTTCAACTTCACCAATTTTACCATATTTTTTGAATTTGAGCTCTTAGATGTCCATATTATAAGCTTTTTTGTATATTTCCTATTTCAAAGTTAATAAATGTATACTTTTAAATTCCATTATTTAGAAAACTTCCAATGCTACTGGATTGAATTGATGGTATTTATTATATTTGAATTGACTTTTCAACTGTCTCATAATCTCTATTTCTTAGTTGACCAATCTATAAAGACTGATGGTAATACTGACCAAGCTAACAAAAATGCTGTAAGAAATAATTAATGATAGCCTGAAAAGCAATTTCATAAATCTCGATGGCCTTTGTAATACCTAGGAACAGTAGAAACAGAGAACTTTTAAAAGGGTGCTTAGTGGTACCCAAGAGATCACTCAGTGACTCAATGCTTTGCTGTTACCCTACCCAAATTTCCTCACACACTAGCCCCAAGAAAATATGCAGCCAAAGATGTTCACTAACTTTTAAGATTATGCTTGGGCCATTATTGTCACAGTTGCAAGTTCAAATTTTATTACCGGTTTTCAAGTTCAGAGATGTCTGTCTGTAGCTTAAGATACCACTTCTCAGCTTGTGCAAACGGCTGTCGCAGAAGTAACACATTGGTATAGGCAGTGTTGATGAGCTCAGATTCCACCTCACTATGAACCACAGCTTGTAATCCATTGAGGACTTCAGAGACTTCATCTATGGTGAAGGTGTCCTCCACCAGCCTGAAAAACAACCATGATCCAAAACTTATAGAAAAACAACAAGAAAAATCTACAAAATACAGCAAAATTAAGAAACCCACATTCATGTAATCTAAGAAATTCAAAGATTACAGTGAAAATCTCTCTGGGAACTATCTTCTTTATTAATAAACATTGAAAATAATTTAAACTCAATTAATTTTTGACATCTATTCAAATGATTAAATTGTGCACATCCTTTAATACAAGTAAATGCTCAAACACATTCCCAAAACCATCATCTACTTTTTTAACTTTTTAGTATTAAATGTCTTATTTCAAACTCCACTGAAATCAGTCTTATTACATTTAATAATTTCAAAAGTCACCCGGAAGGCATAGTCTCATTTCTTTCTAATATTTCTCTAACATTTTAATAACTGTATGAACTATTCACAGGTTAGTAAACGTCTATGGGAAATAAATGGTAATTATATATATTGCTTCTCTTTGCATTCTTGAGACCCAAAATAATAATAATAATAAAAACTAGCTTATCTTAAAGTTCTACTGAACACTCCACAAAAATGAATATCATCATCAACAATAGCATTAGAAATCTACTCTCAGGGCCAGGCATGGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCAGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAATCTGGCCAACACAGCAAAAACTCTTCTCTATTAAAAATACAAAAAATTACCTGGGTGTGGTGGCACGTGCCTTAATCTTAGCTACTTAGGAGGCTGAGGCAGGAGAATCGCTTGTAACCAGAAGGTGGAGGTTGCAGTGAGCCGACATCATGCCACCGCACTCCAGCCTGGGCGACAAAGTGAGACTCCGTCTCAAAAAAACAAACAAAAAAACAAAACTACTCTTACATAGAGAATGCTTGGGTTGGAAGAGAACTTTGGTGCCATCTTCTACAATCCCCTAACTTTACAGATAGGAACACAGGTTTGAAGAGTGGAGATGACTTGCCTATGGTTACATTGGTGGTGACTAAACCCCACAATCATCTTCAGCAATGATTCTGGGCAAAGGATTCATGCCCAACAGCTAAATCCTTGAAAAAGCTTCTGTGTGTGCCTTCCAGTTTCAATGACAGTATCACAGTAACACAGTCCTCTCCTCTCCCTACCTCTACCCTCCAAAGTCCCTTCTCCCTCAGATTCTCAGCAGATGAAGAGCAGCTACCGCAACCTCAGCTTTATTTTCTTCCCTACTTCCAAAAAGACATCATCAAGCAAGACCCAGTTACACTAAAGCATTATCATAGTTAAACTCAAGTTAATAGTATTTGTTTTATAATTCTTTAATGTTTCATCTAGCCAGCAGAATTTAGTCATTCTCAAAAAACCACAACTTTTTAAATATAAATCCTTATTAAAATATTAATAATCTTTCTATATTCTTCAATAGAACATATGTTCTCGCCAATTAAATTGTTGCTTTCATCTGCTGGGGGATAGGAAACCAGATTACCAGATGAGTTTAATGGACTGAATGGTCTAAGGCTGATGGCCTCTAATACTGAGACATTCATGAGTTTATGGCAGCTGGAGCTCACTTGGAGGTCTTTTTCACTTATATCTGACTTGACATTCATCTCTTGCTACAAATCAGCTACGGTCCAACCATTATCATCTCATGCTAGAAATCAACTAACAATTTTGGTACTAGTCAGCATTATGATTTCCTGCTGTTTTCCTCTCTACTAATTATTCAGTATGAAACACAGAAGTGTTTTCTCACTAATTGCCATGTCTTATAGCTCTAACCATTTAATTAATAACTCAAGTAATTAAAGTTCTGGAATCTTCAATACAACAAGCCAATCATTAATCCACAAACCCTTGGCAACTTCCTTCTCAAACTCTGCCATCCTACAAT
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Task1_train_6705
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This alteration occurs within gene FYCO1 (FYVE and coiled-coil domain autophagy adaptor 1) located on Chromosome 3. Is it associated with a disease or is it a benign variant?
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Pathogenic; Cataract 18
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AGATAACAGCCACCCCCATCTGTGGTTGGTGACAGTGGCCTGTGAAGGCAGAGGAGCACCTAAGCATCCTGTACACGGGCCCCTTCTGCCCCCTGGTGTCACTGTGGGGAAAGGCAGTGGGGCCCCCTGGAAGCTAGAGGAGGAAGGCTCAGTAGGTCCCCAAGTTCCTGATTCCTGGTAGAGCCACACAGGAACCCCAGGCTGCTGAGGACTCGGTGGGTAGGGACTGAGCAAGGGGAGAGGCCCACAGCCCAGCCACATATGGGCAGGCAAAACAGCAAAGGCCTGGATCCCTGATTTCGTCCCTTCCCTCCCTGCCACAAACACTCACGGTGTCTGATCTGGGTGGATTCAGGGCTGGGGGCCTGGTGGGTCTGGGGAACGTGATGGTGAGTGGCAAGGGCAGCTCTTGGCAGTGCTGCCGTTTGTTAGTGTGGAGCTGACAGGCATGTTGGCCGCACCAGGACCTCCTGGGTGGGGGCTCAGAACTGCTCAAGAAGGAAGGGCTCCAGAGGTAGGTAGGAGGAGCTGGCTACAAGCCCCAAAAGAATAAGATGGGCAGAGCGGTTTTAAATAAGACAGAATATGAGATTCCAATAAACAAGGCCAACCCAAGGGAGTAGAGTTACATTTTGAGAGTGAGTTTGAAAAGCAGAGAAATGACAAAAGCGATCCCTGCATTGAGCAGATTCCAACAGGGCAGGATGGCAGGAGAGCAAACCCAAACGGGTACGTGTTCCTCTATGGGATGCCAGCGCCACAGCAGGAACTGCTGTGTGGCCCAATGTGTCTCCTAGCTGGGCTCTCCTGCTCTGGGCCCTCCTCATCCCTCAGCCTCAAGCCCCTCGAGGGCACCCAGTGGACCAAACACACAAGGGACTATTAGATGTTTCTGCAAAGACTTCACAGAACTCTTGTTTCACATGACTTCAGCTAGCTTTTCCCTATCTTGATCCTTGCAATTCTTGCAAAATGGAGATTTCTGCAGTCATATTCCCAGACTAGGATCCATTTTCAGCTCCAGTCCAGCAGGCCCAACGGCTTTTACCATTTCTTTCACTCAGAATGATTCAAATGGAACTTGTGTTTCCATGCAAACCATCTCTCCCTCCCATATCCCTCTACACCCTTTCTCTGCAGAGATGCAGGCATCAAATTCAGACCTCAGGCATGGGTCTCCCTTCTCCTTGCCCCATACTGAATCAGCCACCCATGGAGCCCTGCCCAACCTCTGTCCCTGTGGTCTGGATTCCACCTCATCCTTTCCACTTTGGCTTCAACCCCCTGATCTACACCAGTGGTTCTCAACCTTGGCTGCTCATTGGAATCACTTGGAGATGTCTGGATCCCACCCCTAGAGACTCTAATTTGCAGCCAAGGTTGAGAACAACAGTCCGGGCACTGTCAACATTCCATGCCTAGAATGTCTTAGGAATTTATAAACTGGTACCTGCCACCAAGATTTCAAGCTCGACCACCCAAGTGACATTGGGGTTGTCTCTACTGACACCTTTCCGGGTTGAGATGCACCCTAAGCTAAAAACTAGAGGAAGAGAGGTCACCACCTCCCAAGGTGATCCATTCCTGCTTTGCACAGCTCTATTAGAAAATGATCCTTAAATTGAGTCATACGTCTGTATTCCTCTTTCACCTACCCATCTATCCCAAGGGCAGACTGTACCTGTTTCACACAGGTGTGACCTTCAGACATTTGAGAACAGCTTTCCAGAACTTCTGGGTCTTTCTCTCCCCAAACTGGACAAGGCCCAGGTGCTCTGCCTTCTCTGCATGATACTGCCCAGAACATTCCAAGTGAGGCCTGCCCAGCAGAGGATAGGATGGCCACTGCCCTGCTTTGAGAAAGGCCTGCCCAAGTACCCAGATGTGTGTGTAAGGAGCCCACAGGCAGGGAGCCCAGCCTTACCTTACACTGATCCAGCGGTGTGTCCTCGGCCTCCTGGAAGACCACACTGAAGGAGATGCTCTTGGGGTCAGAGGAGAAGACCCAGCTGATGGTGAGGCCTGCCTCGGCCACAGTGATGGGGATCAGGCTGTAGGTGCTGGACCTCACAAACAGCTCCCTGCTACCCTCCCCGAAGCTGGCGATCTCATCCACTGTGAGGGGTACTTTGATCCTAAAATAAAAATACAGAGAGGGACCTGATTGACTGGGCAAAGTGTTTGTGTCCACTGGCCAGGTCATCTGTGGCTCAGAGGTGGCTGGAGACTTCGGAGACTCTTGAGAGGACAAGCCCTGGGTAACCTTGGCCAACATGCTTAATTATGGGATGGGCAGCTCACTCCAACAAATGCTTCCTGAGCGCTAACTACATGCCTGGCATAGGTCTAGGCACGGAGGAGACAGCAGTAAAAAATACAGATGACACCTTTGCCTGTGTGGAGGTTAAAGCCCATGGGAACTAAGGAACTGAGGATGGCCTGACCTGCTCCACGGCCCTCATGGACAGGAAGCAAGTGCCGAGGCACAGCTTTTTGCTGCTCTCCTGAAGATGCCCTGCTGCTCAGCCATCTGTTTTTTCTCTGCCATTTCTCCTTCCAGTTCCCTGCCTCGCCCTTTCACCTAATTAGTACAAGCCTCCCAGCCTTCTGATATAGTCCATCTTCTCAGCTGCATCTGGCGTCCATTGTAAGATTCCACATGGACACCCTGACCTTTCCTCAAATGCCAACATCCCATACTCTTTATAATGCAAGGGTGGTGCAAGTAATACAACGGTTTTGGGGAGAAAAGCTTGTTCTTACTCTCCCTGGGTAGATAAAAGCTTCTTCAAGAAGTTTATAAGGTTCATTGACAGTGAGTTCCTCTGTTTTTGGGGTTCTGTGCTGGACCCAGAGTGTGACGTGAAGAATGTGAGGTTAGGGGCCAAGGGACCTGCCTCACTGCATCCCTGCTGCATAAGCCTCAGTTTCTTCATCTGCCAAACAAGGACAACCACACCTGCCTCAGGACTGCTGCAAGGACTAGATTACAAGATGAACCCAGGGAGCTTGCTCCTCAGGGCCCCTTCCAGGCCGAGTGGCACCACTCCTACACTGTGCAACTCTGGAGGCAGCTAGGTTAGCTCATGATCATGGAGACAGAGCCTCCAGTGCAGAGCTGCAACTTAGGAGCAGTGTGGCCTTGGGTGAGTCACTCACTCACTTTGAACCTCGGTTTCTCAACTGTGAAATGGGAAGGTGGCGGCCATCATAGGCCACGCCCTGTGCTCAACAATTTTGCATGTTACTGCAATGGCTCCTTGAGGAAGGCATGACTGTTGCCATTCTACAAAAGAGGAAACTAAGATTCTAAAAGATTGAGAAATTCAATCCAGGCTCACACAGGTCTGAGGCAAAGCCATCATCTTCCTACCATACCAAACTGCCTTTTGTGGAGAAAATGTATTACTATCCCCTTTAACACAGGGGAGGGAATTAACTTCAAAGAGGTTAGGTAACTTGCCCAACACTGCGCAGCAAGTGGTGGTGCTGAGCGTTCATCTGCCTCCAAAGCTGTGGAGATGAATGGACAGACTCCCCAAAGCTAATGAGAACGGTAAGAAATGATTAAAAAACCAGGATGCTTTAAAGAACAGCTCCAATACTCACCTTTGTGAGAATTCAATTCAATGCGATACTTCTCCATGTGTTAAATTTTATTTCTAATTAAGAACCCTCGACCAACATTTACAATTTTCAAGAATCTGAGGGCAGGTTTGGGGGGTCCATTCTGGAACAGACATCTTTCTTGTAATGTGGAAATCTTACCATATTACCATGTAAAAAGTCACTTACCCTGACATAATGCCCCATTAATACATTAATGCTGGAGCATTTTATAATTTTATGCTCCAGAATTCTCCCCTGGCACCCAGGTATTTGGATTGTGCCTCAATCATCTAGTCTAGACATCATCTAGACATCATCTATTCAGTGACAAGGACAATACTCAGCCTCTCCAAAGCAGATCTTAACAAAAACAAATCAAAGGTTTGCTCAAATATAATATAATCTTAAGATGCCTATTGTCTATAAGGCTCATGTCACAGATGTGAATTCCACTGAGTGACCTAAGAAATTTCAGTTTACATGAGTC
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AGATAACAGCCACCCCCATCTGTGGTTGGTGACAGTGGCCTGTGAAGGCAGAGGAGCACCTAAGCATCCTGTACACGGGCCCCTTCTGCCCCCTGGTGTCACTGTGGGGAAAGGCAGTGGGGCCCCCTGGAAGCTAGAGGAGGAAGGCTCAGTAGGTCCCCAAGTTCCTGATTCCTGGTAGAGCCACACAGGAACCCCAGGCTGCTGAGGACTCGGTGGGTAGGGACTGAGCAAGGGGAGAGGCCCACAGCCCAGCCACATATGGGCAGGCAAAACAGCAAAGGCCTGGATCCCTGATTTCGTCCCTTCCCTCCCTGCCACAAACACTCACGGTGTCTGATCTGGGTGGATTCAGGGCTGGGGGCCTGGTGGGTCTGGGGAACGTGATGGTGAGTGGCAAGGGCAGCTCTTGGCAGTGCTGCCGTTTGTTAGTGTGGAGCTGACAGGCATGTTGGCCGCACCAGGACCTCCTGGGTGGGGGCTCAGAACTGCTCAAGAAGGAAGGGCTCCAGAGGTAGGTAGGAGGAGCTGGCTACAAGCCCCAAAAGAATAAGATGGGCAGAGCGGTTTTAAATAAGACAGAATATGAGATTCCAATAAACAAGGCCAACCCAAGGGAGTAGAGTTACATTTTGAGAGTGAGTTTGAAAAGCAGAGAAATGACAAAAGCGATCCCTGCATTGAGCAGATTCCAACAGGGCAGGATGGCAGGAGAGCAAACCCAAACGGGTACGTGTTCCTCTATGGGATGCCAGCGCCACAGCAGGAACTGCTGTGTGGCCCAATGTGTCTCCTAGCTGGGCTCTCCTGCTCTGGGCCCTCCTCATCCCTCAGCCTCAAGCCCCTCGAGGGCACCCAGTGGACCAAACACACAAGGGACTATTAGATGTTTCTGCAAAGACTTCACAGAACTCTTGTTTCACATGACTTCAGCTAGCTTTTCCCTATCTTGATCCTTGCAATTCTTGCAAAATGGAGATTTCTGCAGTCATATTCCCAGACTAGGATCCATTTTCAGCTCCAGTCCAGCAGGCCCAACGGCTTTTACCATTTCTTTCACTCAGAATGATTCAAATGGAACTTGTGTTTCCATGCAAACCATCTCTCCCTCCCATATCCCTCTACACCCTTTCTCTGCAGAGATGCAGGCATCAAATTCAGACCTCAGGCATGGGTCTCCCTTCTCCTTGCCCCATACTGAATCAGCCACCCATGGAGCCCTGCCCAACCTCTGTCCCTGTGGTCTGGATTCCACCTCATCCTTTCCACTTTGGCTTCAACCCCCTGATCTACACCAGTGGTTCTCAACCTTGGCTGCTCATTGGAATCACTTGGAGATGTCTGGATCCCACCCCTAGAGACTCTAATTTGCAGCCAAGGTTGAGAACAACAGTCCGGGCACTGTCAACATTCCATGCCTAGAATGTCTTAGGAATTTATAAACTGGTACCTGCCACCAAGATTTCAAGCTCGACCACCCAAGTGACATTGGGGTTGTCTCTACTGACACCTTTCCGGGTTGAGATGCACCCTAAGCTAAAAACTAGAGGAAGAGAGGTCACCACCTCCCAAGGTGATCCATTCCTGCTTTGCACAGCTCTATTAGAAAATGATCCTTAAATTGAGTCATACGTCTGTATTCCTCTTTCACCTACCCATCTATCCCAAGGGCAGACTGTACCTGTTTCACACAGGTGTGACCTTCAGACATTTGAGAACAGCTTTCCAGAACTTCTGGGTCTTTCTCTCCCCAAACTGGACAAGGCCCAGGTGCTCTGCCTTCTCTGCATGATACTGCCCAGAACATTCCAAGTGAGGCCTGCCCAGCAGAGGATAGGATGGCCACTGCCCTGCTTTGAGAAAGGCCTGCCCAAGTACCCAGATGTGTGTGTAAGGAGCCCACAGGCAGGGAGCCCAGCCTTACCTTACACTGATCCAGCGGTGTGTCCTCGGCCTCCTGGAAGACCACACTGAAGGAGATGCTCTTGGGGTCAGAGGAGAAGACCCAGCTGATGGTGAGGCCTGCCTCGGCCACAGTGATGGGGATCGGGCTGTAGGTGCTGGACCTCACAAACAGCTCCCTGCTACCCTCCCCGAAGCTGGCGATCTCATCCACTGTGAGGGGTACTTTGATCCTAAAATAAAAATACAGAGAGGGACCTGATTGACTGGGCAAAGTGTTTGTGTCCACTGGCCAGGTCATCTGTGGCTCAGAGGTGGCTGGAGACTTCGGAGACTCTTGAGAGGACAAGCCCTGGGTAACCTTGGCCAACATGCTTAATTATGGGATGGGCAGCTCACTCCAACAAATGCTTCCTGAGCGCTAACTACATGCCTGGCATAGGTCTAGGCACGGAGGAGACAGCAGTAAAAAATACAGATGACACCTTTGCCTGTGTGGAGGTTAAAGCCCATGGGAACTAAGGAACTGAGGATGGCCTGACCTGCTCCACGGCCCTCATGGACAGGAAGCAAGTGCCGAGGCACAGCTTTTTGCTGCTCTCCTGAAGATGCCCTGCTGCTCAGCCATCTGTTTTTTCTCTGCCATTTCTCCTTCCAGTTCCCTGCCTCGCCCTTTCACCTAATTAGTACAAGCCTCCCAGCCTTCTGATATAGTCCATCTTCTCAGCTGCATCTGGCGTCCATTGTAAGATTCCACATGGACACCCTGACCTTTCCTCAAATGCCAACATCCCATACTCTTTATAATGCAAGGGTGGTGCAAGTAATACAACGGTTTTGGGGAGAAAAGCTTGTTCTTACTCTCCCTGGGTAGATAAAAGCTTCTTCAAGAAGTTTATAAGGTTCATTGACAGTGAGTTCCTCTGTTTTTGGGGTTCTGTGCTGGACCCAGAGTGTGACGTGAAGAATGTGAGGTTAGGGGCCAAGGGACCTGCCTCACTGCATCCCTGCTGCATAAGCCTCAGTTTCTTCATCTGCCAAACAAGGACAACCACACCTGCCTCAGGACTGCTGCAAGGACTAGATTACAAGATGAACCCAGGGAGCTTGCTCCTCAGGGCCCCTTCCAGGCCGAGTGGCACCACTCCTACACTGTGCAACTCTGGAGGCAGCTAGGTTAGCTCATGATCATGGAGACAGAGCCTCCAGTGCAGAGCTGCAACTTAGGAGCAGTGTGGCCTTGGGTGAGTCACTCACTCACTTTGAACCTCGGTTTCTCAACTGTGAAATGGGAAGGTGGCGGCCATCATAGGCCACGCCCTGTGCTCAACAATTTTGCATGTTACTGCAATGGCTCCTTGAGGAAGGCATGACTGTTGCCATTCTACAAAAGAGGAAACTAAGATTCTAAAAGATTGAGAAATTCAATCCAGGCTCACACAGGTCTGAGGCAAAGCCATCATCTTCCTACCATACCAAACTGCCTTTTGTGGAGAAAATGTATTACTATCCCCTTTAACACAGGGGAGGGAATTAACTTCAAAGAGGTTAGGTAACTTGCCCAACACTGCGCAGCAAGTGGTGGTGCTGAGCGTTCATCTGCCTCCAAAGCTGTGGAGATGAATGGACAGACTCCCCAAAGCTAATGAGAACGGTAAGAAATGATTAAAAAACCAGGATGCTTTAAAGAACAGCTCCAATACTCACCTTTGTGAGAATTCAATTCAATGCGATACTTCTCCATGTGTTAAATTTTATTTCTAATTAAGAACCCTCGACCAACATTTACAATTTTCAAGAATCTGAGGGCAGGTTTGGGGGGTCCATTCTGGAACAGACATCTTTCTTGTAATGTGGAAATCTTACCATATTACCATGTAAAAAGTCACTTACCCTGACATAATGCCCCATTAATACATTAATGCTGGAGCATTTTATAATTTTATGCTCCAGAATTCTCCCCTGGCACCCAGGTATTTGGATTGTGCCTCAATCATCTAGTCTAGACATCATCTAGACATCATCTATTCAGTGACAAGGACAATACTCAGCCTCTCCAAAGCAGATCTTAACAAAAACAAATCAAAGGTTTGCTCAAATATAATATAATCTTAAGATGCCTATTGTCTATAAGGCTCATGTCACAGATGTGAATTCCACTGAGTGACCTAAGAAATTTCAGTTTACATGAGTC
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Task1_train_6706
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A variant has been detected on Chromosome 3 in MYL3 (myosin light chain 3). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Hypertrophic cardiomyopathy
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CTCGGCCTCCTCCAGCTCAGCGTCCATGGGCCACAGAATTCACATAGGCAAGCCAAGGGCCACAGAGAGGAAAGAAGGAGAGAGGGAAAGAAGGAGGAAAGGGAAGAGGGGAAGGAGAAATGTGGGACAAAGAGGGAAAGGAAGGAAGGAAGGAGGGGAGGGAGGGAGAAAAGGAGGGAGGAAGGAAAAAAAGGGGGAAGGAAGAAGGAAAAGAGGAAAGGAAGAAAGGAAAGGAGGGAAGAAGGGGAAGAAGGGGAGGAAAATGGGAGGGAAGGCAGGAAAGAAGAAAGGACGAAAGGGAGGGAGGTGGGTAGGAAGGGAGGGAGGGAGAAAAGGAAGAAAAAAGAGGAGGGGAGGGAAGGAAGGAGAGAAGGAAAAAAGAGAGGGAGGAAGGGAAATAAGTCAGAAAGGAAGGCCGGCAAGAAGCCATTTATTCATGAGGCCCATGGGGTGGGGACAGAGCTGCTGTCACAGGTAAGCACAGCCTGAGAGGGGCCAGAGACGGCAACCACGTGGAGAGGTCCAAGGGTTTTTGCAGGAGTCTTGGTAAGGCTCCCCTCCTTCCCACGACTCCAGGCCGCTGGTGTCAGCATCACACATGGGAGATGAGACGTCCCTGCACAGCCTTCCCTGGGCTTCCTGAGAGCAAAGGCAGTGCAGATTACAGAGGAGGAGGGAGACGGAGGCAGCAGGATGTCAAGTGAGCACTGCAGCTGGTGGAGTGTGGGCAGGTGGCAGCAGCGGGTTCAGGAGGGAGTGGGTGCCTACCTGGGCACGAGGTTTAGCTGGACATGATGTGCTTCACAAATGCTGGAAAGAAGAGGAGAGTGAGTGGCAGGAGTGCAACATGGGGAAGCCATGGCTGGGAGCCTGGGTCCCAGCACTCCCCTCCCAGAAGACCCCTGCCCCTGCTGAGCCCACCTTCATAGTTGATGCAGCCATTGGAGTCCTCTTGCCCAGCCATCAACTTCTCCACTTCGTCTTCTGTCAGCCTCTCACCTGGCAGGAGTGGGAGGCTGAGTCAGCACCGTGCGTGCAGAGGCATGATGGGGTGGGGGCACCCACTGAATCCCTCTAGATGGTGGCTCAACCTCTCCAGTATTCCCACAACCAGCACTGTTCACAAGACCTTGGCCATCACCCCATTTCTGAGGCCAGGAGAATCAGTGACAAGTTAAGAAGGGGCCTGGGGTGCAGTACGTGCTGTCCTCTGTCCCACTAGGCTGGGAGGGGGTCCCTCCGCCAGGACGAAGCCAGGGCTCCCTAGAAGCAGTCCCTTGGGGCAGCCCCTTGAGGCTAGAGGAAGGGCCCATGGGGTGGAGTTGGGGATCTTGGGAGAGGGTGGTGGAGGGAGCCAAGAGACCACCCGCTGCTCCCCAAGTCTGGTATTCTCCTGCCTCCGTACTTCTGTGTGCTGTGCTGGCCCCCCTTCAAAATGCCAGCCGCAGCTCCCCCTTCTTACCCCCACCTTTAGACACACATGCACACACAGAGAGAGAGAGGAGAGAGAGACCAGCACGGAGCTGAAACAGTAGACACTCAAATGTTTGCTGCAGGAAAAAATCACTTTGAAGAGGGACCCCCTGCTGCAGGCAGCCGATGGTAGGGGTATAAGTGGGAGGTACACAGGGCTCCACAGAGGTCAGGATCCCCCCAGGCGGCAGGCACTTGACCTGCTTGACCACTTAGGGCTGTGGCCCTGGAATTTGACCTTGGAGTAATGACCACCAGGACGGTGGCCTGGAGTCGTGGGAAGGAGGGGAGCATATCAAGACGGCTCCTTCCTGCCCTGCTCTGTCCCCAGAGCTGATGTCATCCCCCTTCTGTGAGCTGCACCAGCATGCTTGCTTTACTCTCCTCCTAAGTAACATTTCTGTTGTCTGCCATTGAGGCTCCCTAATTATGTAACTCTCTCCATTTCACCAATGGGTCACAGGCCTGGGGGGCAACAGAGTGGTTTCTCCCAGGATGTCCCTGGAAGGAGTTGGGGTAGGGGAGGAGGCTGCCCTCACCCAGCGTGGCCAGCACGTGGCGAAGCTCAGCACCCATGACAGTGCCATTGCCCTCCTTGTCGAAGACCCGCAGCCCCTCCACGAAGTCCTCATAGGTGCCTGTGTCCTTGTTCTTGGAAATGTGCTGGAGCATAGGCAGGAAAGTTTCAAAGTCCATCATCTTGGTATTGAGCTCTGCAGAGAAATGGTCCCAGGTTCCAGGGTCTAAGGCTGGGGTGGGCACACCCCTCCCCCATGCCTGATAATGAGGAGCTATCCCCACCTCTCACACAGTTCTACAACAGTCTACACCAGTTCTCACAGCAGTCTACACCAGTTTGCCATTTAAAAGCAAACTACCATCGCGAGGCACTTTACAGTCTACTGAGCAATGCACTGTTTCCATAGCCCTTTGCTATTCACAAAGGGAGTTTGCTGCCCTGAGCCACCACGGAGGGCTCTGTCCAGAACCCCTTGCCTACTTTTGGGAAACAGTCCTCCCCTCGTGGCATTTTCTTATAGACCTCACCCTCCACCACCTGTGATTGGGTCAGGAGCAGCTAGGCCAATCAGAGACCTTCCCTGGGACTTTTGAACCCTTGGTGGGGGCTTGGGCCTCACTCCTTTTTTTTTTTTTAGCTTTAAAATTTTATTCATTTATGTATTTATTCATTCATTTATTTATTTTTAGACACGAGGTCTTCTTGTTACGTCACACAGACTGGAGTACAGTGGTGTGATTATAGCTCACTGCAACCTCAAATTCCTGGGCTCACGGGATCCTCCTGGCTCAGCTTCCTGAGTAGCTGGGACCATAGGTGCATGTCACCATGCCAAGCTAAATTTTTAATTTTTGTAGAGATAGAATCTCACTATGTTACCCAGGCTGGTCTCACTCCTGGCCTCAAGTGATCCTCCCAAAGCATTGGGATGACAGCATCCCACTGCCCACTGCTGTCACTGCCCGACCTTCTCACTTCTCCATAGGTGTCAGCGCCTACCACCAGGGGGCCTGGCAAATCAGCATGGATCCAGATGCTCCAGCAAACCATTACTGCATGTCACCTGGTCGGCATGGCCCTGTGACTGGCCTCGGTGCCCTCATCGGGACAATGCGAGATGTCAGGAAAGATTCTCGTGCTATCCCGCAGGATGGATGGCAGCCCACCCAGCCAGTCTCCCCGGTACTAACACTATGGGGGCTCTCGGGCAGGTGCACTACCTTCCTGTCTTGGCTTCCCCAGGACACGGAGCACTTCTGCCTGTGTGGGGTTCTGGCCCAGCGCCCGCAGGACATCCCCACACTGCCCGTAGGTGATCTTCATCTCACACTTGGGTGTGCGGTCGAACAGCATGAAGGCTTCCTTGAACTCTGCCAGGAGAGGGCAGTGAGCCACAGACACTCCCAGGGTCAGCCTACCCCACTCCCCACACCCCTGGCAGGACCCTCAGACCAGGGAACCCCAGCCCAATCCTGCAACCCCTGGGTTCAAGACCCCTGCTCACCTTCAATCTGCTCAGGTGTGAACTCAATCTGAAAAGAGACCCCAAAGACTCAGATGCCCGGCTTAAAAGGTGGGGCCACACCTCCTCCTGGGCACTCGGTGGCCAGCCCAGAATGTCAACTGTCTCAGCCTGTCCCATTCCAGCATCCCAGCCTGCACCCCCAGGACCTCCTGCAGTCCATCTTGACGCCCTCCTGCCTCCTTGCCCCCCTCCACCTCTCCAGCCAGAAGGCCTTGAGGCTGTGTGCACCGAGGCCCTGATGCTCGGTGGACCCTGGCAGGGGTAGCAGTGAGGAGGGAGGCCACATGCCCAAGGCCTCAGGCCAGCGTGGGCCTTACCTGATGCTCCCGGTTCTGGACAGATGTACCTTAAGCCACAAGCCCCAGTCAGGCTGGCTTTGCTTGGGGCCTGGTGGGCAGGACTGTCAGCAAAAGTGAGATGGGAGGGCCCAGGGTGGTAGAAGGAGTAAGGGCAATGGTACAGGCCGAGGGCTGGTGGCTGGAAGCATCGAGGGTGAGCACAAGTGTGCATGTTTGTGTGTGAGCATGTGTCTACATACGTCTGCCCTCACAGAGCCCCCTAAGCCCTAAAGACCAGGC
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CTCGGCCTCCTCCAGCTCAGCGTCCATGGGCCACAGAATTCACATAGGCAAGCCAAGGGCCACAGAGAGGAAAGAAGGAGAGAGGGAAAGAAGGAGGAAAGGGAAGAGGGGAAGGAGAAATGTGGGACAAAGAGGGAAAGGAAGGAAGGAAGGAGGGGAGGGAGGGAGAAAAGGAGGGAGGAAGGAAAAAAAGGGGGAAGGAAGAAGGAAAAGAGGAAAGGAAGAAAGGAAAGGAGGGAAGAAGGGGAAGAAGGGGAGGAAAATGGGAGGGAAGGCAGGAAAGAAGAAAGGACGAAAGGGAGGGAGGTGGGTAGGAAGGGAGGGAGGGAGAAAAGGAAGAAAAAAGAGGAGGGGAGGGAAGGAAGGAGAGAAGGAAAAAAGAGAGGGAGGAAGGGAAATAAGTCAGAAAGGAAGGCCGGCAAGAAGCCATTTATTCATGAGGCCCATGGGGTGGGGACAGAGCTGCTGTCACAGGTAAGCACAGCCTGAGAGGGGCCAGAGACGGCAACCACGTGGAGAGGTCCAAGGGTTTTTGCAGGAGTCTTGGTAAGGCTCCCCTCCTTCCCACGACTCCAGGCCGCTGGTGTCAGCATCACACATGGGAGATGAGACGTCCCTGCACAGCCTTCCCTGGGCTTCCTGAGAGCAAAGGCAGTGCAGATTACAGAGGAGGAGGGAGACGGAGGCAGCAGGATGTCAAGTGAGCACTGCAGCTGGTGGAGTGTGGGCAGGTGGCAGCAGCGGGTTCAGGAGGGAGTGGGTGCCTACCTGGGCACGAGGTTTAGCTGGACATGATGTGCTTCACAAATGCTGGAAAGAAGAGGAGAGTGAGTGGCAGGAGTGCAACATGGGGAAGCCATGGCTGGGAGCCTGGGTCCCAGCACTCCCCTCCCAGAAGACCCCTGCCCCTGCTGAGCCCACCTTCATAGTTGATGCAGCCATTGGAGTCCTCTTGCCCAGCCATCAACTTCTCCACTTCGTCTTCTGTCAGCCTCTCACCTGGCAGGAGTGGGAGGCTGAGTCAGCACCGTGCGTGCAGAGGCATGATGGGGTGGGGGCACCCACTGAATCCCTCTAGATGGTGGCTCAACCTCTCCAGTATTCCCACAACCAGCACTGTTCACAAGACCTTGGCCATCACCCCATTTCTGAGGCCAGGAGAATCAGTGACAAGTTAAGAAGGGGCCTGGGGTGCAGTACGTGCTGTCCTCTGTCCCACTAGGCTGGGAGGGGGTCCCTCCGCCAGGACGAAGCCAGGGCTCCCTAGAAGCAGTCCCTTGGGGCAGCCCCTTGAGGCTAGAGGAAGGGCCCATGGGGTGGAGTTGGGGATCTTGGGAGAGGGTGGTGGAGGGAGCCAAGAGACCACCCGCTGCTCCCCAAGTCTGGTATTCTCCTGCCTCCGTACTTCTGTGTGCTGTGCTGGCCCCCCTTCAAAATGCCAGCCGCAGCTCCCCCTTCTTACCCCCACCTTTAGACACACATGCACACACAGAGAGAGAGAGGAGAGAGAGACCAGCACGGAGCTGAAACAGTAGACACTCAAATGTTTGCTGCAGGAAAAAATCACTTTGAAGAGGGACCCCCTGCTGCAGGCAGCCGATGGTAGGGGTATAAGTGGGAGGTACACAGGGCTCCACAGAGGTCAGGATCCCCCCAGGCGGCAGGCACTTGACCTGCTTGACCACTTAGGGCTGTGGCCCTGGAATTTGACCTTGGAGTAATGACCACCAGGACGGTGGCCTGGAGTCGTGGGAAGGAGGGGAGCATATCAAGACGGCTCCTTCCTGCCCTGCTCTGTCCCCAGAGCTGATGTCATCCCCCTTCTGTGAGCTGCACCAGCATGCTTGCTTTACTCTCCTCCTAAGTAACATTTCTGTTGTCTGCCATTGAGGCTCCCTAATTATGTAACTCTCTCCATTTCACCAATGGGTCACAGGCCTGGGGGGCAACAGAGTGGTTTCTCCCAGGATGTCCCTGGAAGGAGTTGGGGTAGGGGAGGAGGCTGCCCTCACCCAGCGTGGCCAGCACGTGGCGAAGCTCAGCACCCACGACAGTGCCATTGCCCTCCTTGTCGAAGACCCGCAGCCCCTCCACGAAGTCCTCATAGGTGCCTGTGTCCTTGTTCTTGGAAATGTGCTGGAGCATAGGCAGGAAAGTTTCAAAGTCCATCATCTTGGTATTGAGCTCTGCAGAGAAATGGTCCCAGGTTCCAGGGTCTAAGGCTGGGGTGGGCACACCCCTCCCCCATGCCTGATAATGAGGAGCTATCCCCACCTCTCACACAGTTCTACAACAGTCTACACCAGTTCTCACAGCAGTCTACACCAGTTTGCCATTTAAAAGCAAACTACCATCGCGAGGCACTTTACAGTCTACTGAGCAATGCACTGTTTCCATAGCCCTTTGCTATTCACAAAGGGAGTTTGCTGCCCTGAGCCACCACGGAGGGCTCTGTCCAGAACCCCTTGCCTACTTTTGGGAAACAGTCCTCCCCTCGTGGCATTTTCTTATAGACCTCACCCTCCACCACCTGTGATTGGGTCAGGAGCAGCTAGGCCAATCAGAGACCTTCCCTGGGACTTTTGAACCCTTGGTGGGGGCTTGGGCCTCACTCCTTTTTTTTTTTTTAGCTTTAAAATTTTATTCATTTATGTATTTATTCATTCATTTATTTATTTTTAGACACGAGGTCTTCTTGTTACGTCACACAGACTGGAGTACAGTGGTGTGATTATAGCTCACTGCAACCTCAAATTCCTGGGCTCACGGGATCCTCCTGGCTCAGCTTCCTGAGTAGCTGGGACCATAGGTGCATGTCACCATGCCAAGCTAAATTTTTAATTTTTGTAGAGATAGAATCTCACTATGTTACCCAGGCTGGTCTCACTCCTGGCCTCAAGTGATCCTCCCAAAGCATTGGGATGACAGCATCCCACTGCCCACTGCTGTCACTGCCCGACCTTCTCACTTCTCCATAGGTGTCAGCGCCTACCACCAGGGGGCCTGGCAAATCAGCATGGATCCAGATGCTCCAGCAAACCATTACTGCATGTCACCTGGTCGGCATGGCCCTGTGACTGGCCTCGGTGCCCTCATCGGGACAATGCGAGATGTCAGGAAAGATTCTCGTGCTATCCCGCAGGATGGATGGCAGCCCACCCAGCCAGTCTCCCCGGTACTAACACTATGGGGGCTCTCGGGCAGGTGCACTACCTTCCTGTCTTGGCTTCCCCAGGACACGGAGCACTTCTGCCTGTGTGGGGTTCTGGCCCAGCGCCCGCAGGACATCCCCACACTGCCCGTAGGTGATCTTCATCTCACACTTGGGTGTGCGGTCGAACAGCATGAAGGCTTCCTTGAACTCTGCCAGGAGAGGGCAGTGAGCCACAGACACTCCCAGGGTCAGCCTACCCCACTCCCCACACCCCTGGCAGGACCCTCAGACCAGGGAACCCCAGCCCAATCCTGCAACCCCTGGGTTCAAGACCCCTGCTCACCTTCAATCTGCTCAGGTGTGAACTCAATCTGAAAAGAGACCCCAAAGACTCAGATGCCCGGCTTAAAAGGTGGGGCCACACCTCCTCCTGGGCACTCGGTGGCCAGCCCAGAATGTCAACTGTCTCAGCCTGTCCCATTCCAGCATCCCAGCCTGCACCCCCAGGACCTCCTGCAGTCCATCTTGACGCCCTCCTGCCTCCTTGCCCCCCTCCACCTCTCCAGCCAGAAGGCCTTGAGGCTGTGTGCACCGAGGCCCTGATGCTCGGTGGACCCTGGCAGGGGTAGCAGTGAGGAGGGAGGCCACATGCCCAAGGCCTCAGGCCAGCGTGGGCCTTACCTGATGCTCCCGGTTCTGGACAGATGTACCTTAAGCCACAAGCCCCAGTCAGGCTGGCTTTGCTTGGGGCCTGGTGGGCAGGACTGTCAGCAAAAGTGAGATGGGAGGGCCCAGGGTGGTAGAAGGAGTAAGGGCAATGGTACAGGCCGAGGGCTGGTGGCTGGAAGCATCGAGGGTGAGCACAAGTGTGCATGTTTGTGTGTGAGCATGTGTCTACATACGTCTGCCCTCACAGAGCCCCCTAAGCCCTAAAGACCAGGC
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Task1_train_6707
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Here’s a variant in MYL3 (myosin light chain 3) located on Chromosome 3. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Cardiovascular phenotype
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CTCGGCCTCCTCCAGCTCAGCGTCCATGGGCCACAGAATTCACATAGGCAAGCCAAGGGCCACAGAGAGGAAAGAAGGAGAGAGGGAAAGAAGGAGGAAAGGGAAGAGGGGAAGGAGAAATGTGGGACAAAGAGGGAAAGGAAGGAAGGAAGGAGGGGAGGGAGGGAGAAAAGGAGGGAGGAAGGAAAAAAAGGGGGAAGGAAGAAGGAAAAGAGGAAAGGAAGAAAGGAAAGGAGGGAAGAAGGGGAAGAAGGGGAGGAAAATGGGAGGGAAGGCAGGAAAGAAGAAAGGACGAAAGGGAGGGAGGTGGGTAGGAAGGGAGGGAGGGAGAAAAGGAAGAAAAAAGAGGAGGGGAGGGAAGGAAGGAGAGAAGGAAAAAAGAGAGGGAGGAAGGGAAATAAGTCAGAAAGGAAGGCCGGCAAGAAGCCATTTATTCATGAGGCCCATGGGGTGGGGACAGAGCTGCTGTCACAGGTAAGCACAGCCTGAGAGGGGCCAGAGACGGCAACCACGTGGAGAGGTCCAAGGGTTTTTGCAGGAGTCTTGGTAAGGCTCCCCTCCTTCCCACGACTCCAGGCCGCTGGTGTCAGCATCACACATGGGAGATGAGACGTCCCTGCACAGCCTTCCCTGGGCTTCCTGAGAGCAAAGGCAGTGCAGATTACAGAGGAGGAGGGAGACGGAGGCAGCAGGATGTCAAGTGAGCACTGCAGCTGGTGGAGTGTGGGCAGGTGGCAGCAGCGGGTTCAGGAGGGAGTGGGTGCCTACCTGGGCACGAGGTTTAGCTGGACATGATGTGCTTCACAAATGCTGGAAAGAAGAGGAGAGTGAGTGGCAGGAGTGCAACATGGGGAAGCCATGGCTGGGAGCCTGGGTCCCAGCACTCCCCTCCCAGAAGACCCCTGCCCCTGCTGAGCCCACCTTCATAGTTGATGCAGCCATTGGAGTCCTCTTGCCCAGCCATCAACTTCTCCACTTCGTCTTCTGTCAGCCTCTCACCTGGCAGGAGTGGGAGGCTGAGTCAGCACCGTGCGTGCAGAGGCATGATGGGGTGGGGGCACCCACTGAATCCCTCTAGATGGTGGCTCAACCTCTCCAGTATTCCCACAACCAGCACTGTTCACAAGACCTTGGCCATCACCCCATTTCTGAGGCCAGGAGAATCAGTGACAAGTTAAGAAGGGGCCTGGGGTGCAGTACGTGCTGTCCTCTGTCCCACTAGGCTGGGAGGGGGTCCCTCCGCCAGGACGAAGCCAGGGCTCCCTAGAAGCAGTCCCTTGGGGCAGCCCCTTGAGGCTAGAGGAAGGGCCCATGGGGTGGAGTTGGGGATCTTGGGAGAGGGTGGTGGAGGGAGCCAAGAGACCACCCGCTGCTCCCCAAGTCTGGTATTCTCCTGCCTCCGTACTTCTGTGTGCTGTGCTGGCCCCCCTTCAAAATGCCAGCCGCAGCTCCCCCTTCTTACCCCCACCTTTAGACACACATGCACACACAGAGAGAGAGAGGAGAGAGAGACCAGCACGGAGCTGAAACAGTAGACACTCAAATGTTTGCTGCAGGAAAAAATCACTTTGAAGAGGGACCCCCTGCTGCAGGCAGCCGATGGTAGGGGTATAAGTGGGAGGTACACAGGGCTCCACAGAGGTCAGGATCCCCCCAGGCGGCAGGCACTTGACCTGCTTGACCACTTAGGGCTGTGGCCCTGGAATTTGACCTTGGAGTAATGACCACCAGGACGGTGGCCTGGAGTCGTGGGAAGGAGGGGAGCATATCAAGACGGCTCCTTCCTGCCCTGCTCTGTCCCCAGAGCTGATGTCATCCCCCTTCTGTGAGCTGCACCAGCATGCTTGCTTTACTCTCCTCCTAAGTAACATTTCTGTTGTCTGCCATTGAGGCTCCCTAATTATGTAACTCTCTCCATTTCACCAATGGGTCACAGGCCTGGGGGGCAACAGAGTGGTTTCTCCCAGGATGTCCCTGGAAGGAGTTGGGGTAGGGGAGGAGGCTGCCCTCACCCAGCGTGGCCAGCACGTGGCGAAGCTCAGCACCCATGACAGTGCCATTGCCCTCCTTGTCGAAGACCCGCAGCCCCTCCACGAAGTCCTCATAGGTGCCTGTGTCCTTGTTCTTGGAAATGTGCTGGAGCATAGGCAGGAAAGTTTCAAAGTCCATCATCTTGGTATTGAGCTCTGCAGAGAAATGGTCCCAGGTTCCAGGGTCTAAGGCTGGGGTGGGCACACCCCTCCCCCATGCCTGATAATGAGGAGCTATCCCCACCTCTCACACAGTTCTACAACAGTCTACACCAGTTCTCACAGCAGTCTACACCAGTTTGCCATTTAAAAGCAAACTACCATCGCGAGGCACTTTACAGTCTACTGAGCAATGCACTGTTTCCATAGCCCTTTGCTATTCACAAAGGGAGTTTGCTGCCCTGAGCCACCACGGAGGGCTCTGTCCAGAACCCCTTGCCTACTTTTGGGAAACAGTCCTCCCCTCGTGGCATTTTCTTATAGACCTCACCCTCCACCACCTGTGATTGGGTCAGGAGCAGCTAGGCCAATCAGAGACCTTCCCTGGGACTTTTGAACCCTTGGTGGGGGCTTGGGCCTCACTCCTTTTTTTTTTTTTAGCTTTAAAATTTTATTCATTTATGTATTTATTCATTCATTTATTTATTTTTAGACACGAGGTCTTCTTGTTACGTCACACAGACTGGAGTACAGTGGTGTGATTATAGCTCACTGCAACCTCAAATTCCTGGGCTCACGGGATCCTCCTGGCTCAGCTTCCTGAGTAGCTGGGACCATAGGTGCATGTCACCATGCCAAGCTAAATTTTTAATTTTTGTAGAGATAGAATCTCACTATGTTACCCAGGCTGGTCTCACTCCTGGCCTCAAGTGATCCTCCCAAAGCATTGGGATGACAGCATCCCACTGCCCACTGCTGTCACTGCCCGACCTTCTCACTTCTCCATAGGTGTCAGCGCCTACCACCAGGGGGCCTGGCAAATCAGCATGGATCCAGATGCTCCAGCAAACCATTACTGCATGTCACCTGGTCGGCATGGCCCTGTGACTGGCCTCGGTGCCCTCATCGGGACAATGCGAGATGTCAGGAAAGATTCTCGTGCTATCCCGCAGGATGGATGGCAGCCCACCCAGCCAGTCTCCCCGGTACTAACACTATGGGGGCTCTCGGGCAGGTGCACTACCTTCCTGTCTTGGCTTCCCCAGGACACGGAGCACTTCTGCCTGTGTGGGGTTCTGGCCCAGCGCCCGCAGGACATCCCCACACTGCCCGTAGGTGATCTTCATCTCACACTTGGGTGTGCGGTCGAACAGCATGAAGGCTTCCTTGAACTCTGCCAGGAGAGGGCAGTGAGCCACAGACACTCCCAGGGTCAGCCTACCCCACTCCCCACACCCCTGGCAGGACCCTCAGACCAGGGAACCCCAGCCCAATCCTGCAACCCCTGGGTTCAAGACCCCTGCTCACCTTCAATCTGCTCAGGTGTGAACTCAATCTGAAAAGAGACCCCAAAGACTCAGATGCCCGGCTTAAAAGGTGGGGCCACACCTCCTCCTGGGCACTCGGTGGCCAGCCCAGAATGTCAACTGTCTCAGCCTGTCCCATTCCAGCATCCCAGCCTGCACCCCCAGGACCTCCTGCAGTCCATCTTGACGCCCTCCTGCCTCCTTGCCCCCCTCCACCTCTCCAGCCAGAAGGCCTTGAGGCTGTGTGCACCGAGGCCCTGATGCTCGGTGGACCCTGGCAGGGGTAGCAGTGAGGAGGGAGGCCACATGCCCAAGGCCTCAGGCCAGCGTGGGCCTTACCTGATGCTCCCGGTTCTGGACAGATGTACCTTAAGCCACAAGCCCCAGTCAGGCTGGCTTTGCTTGGGGCCTGGTGGGCAGGACTGTCAGCAAAAGTGAGATGGGAGGGCCCAGGGTGGTAGAAGGAGTAAGGGCAATGGTACAGGCCGAGGGCTGGTGGCTGGAAGCATCGAGGGTGAGCACAAGTGTGCATGTTTGTGTGTGAGCATGTGTCTACATACGTCTGCCCTCACAGAGCCCCCTAAGCCCTAAAGACCAGGC
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CTCGGCCTCCTCCAGCTCAGCGTCCATGGGCCACAGAATTCACATAGGCAAGCCAAGGGCCACAGAGAGGAAAGAAGGAGAGAGGGAAAGAAGGAGGAAAGGGAAGAGGGGAAGGAGAAATGTGGGACAAAGAGGGAAAGGAAGGAAGGAAGGAGGGGAGGGAGGGAGAAAAGGAGGGAGGAAGGAAAAAAAGGGGGAAGGAAGAAGGAAAAGAGGAAAGGAAGAAAGGAAAGGAGGGAAGAAGGGGAAGAAGGGGAGGAAAATGGGAGGGAAGGCAGGAAAGAAGAAAGGACGAAAGGGAGGGAGGTGGGTAGGAAGGGAGGGAGGGAGAAAAGGAAGAAAAAAGAGGAGGGGAGGGAAGGAAGGAGAGAAGGAAAAAAGAGAGGGAGGAAGGGAAATAAGTCAGAAAGGAAGGCCGGCAAGAAGCCATTTATTCATGAGGCCCATGGGGTGGGGACAGAGCTGCTGTCACAGGTAAGCACAGCCTGAGAGGGGCCAGAGACGGCAACCACGTGGAGAGGTCCAAGGGTTTTTGCAGGAGTCTTGGTAAGGCTCCCCTCCTTCCCACGACTCCAGGCCGCTGGTGTCAGCATCACACATGGGAGATGAGACGTCCCTGCACAGCCTTCCCTGGGCTTCCTGAGAGCAAAGGCAGTGCAGATTACAGAGGAGGAGGGAGACGGAGGCAGCAGGATGTCAAGTGAGCACTGCAGCTGGTGGAGTGTGGGCAGGTGGCAGCAGCGGGTTCAGGAGGGAGTGGGTGCCTACCTGGGCACGAGGTTTAGCTGGACATGATGTGCTTCACAAATGCTGGAAAGAAGAGGAGAGTGAGTGGCAGGAGTGCAACATGGGGAAGCCATGGCTGGGAGCCTGGGTCCCAGCACTCCCCTCCCAGAAGACCCCTGCCCCTGCTGAGCCCACCTTCATAGTTGATGCAGCCATTGGAGTCCTCTTGCCCAGCCATCAACTTCTCCACTTCGTCTTCTGTCAGCCTCTCACCTGGCAGGAGTGGGAGGCTGAGTCAGCACCGTGCGTGCAGAGGCATGATGGGGTGGGGGCACCCACTGAATCCCTCTAGATGGTGGCTCAACCTCTCCAGTATTCCCACAACCAGCACTGTTCACAAGACCTTGGCCATCACCCCATTTCTGAGGCCAGGAGAATCAGTGACAAGTTAAGAAGGGGCCTGGGGTGCAGTACGTGCTGTCCTCTGTCCCACTAGGCTGGGAGGGGGTCCCTCCGCCAGGACGAAGCCAGGGCTCCCTAGAAGCAGTCCCTTGGGGCAGCCCCTTGAGGCTAGAGGAAGGGCCCATGGGGTGGAGTTGGGGATCTTGGGAGAGGGTGGTGGAGGGAGCCAAGAGACCACCCGCTGCTCCCCAAGTCTGGTATTCTCCTGCCTCCGTACTTCTGTGTGCTGTGCTGGCCCCCCTTCAAAATGCCAGCCGCAGCTCCCCCTTCTTACCCCCACCTTTAGACACACATGCACACACAGAGAGAGAGAGGAGAGAGAGACCAGCACGGAGCTGAAACAGTAGACACTCAAATGTTTGCTGCAGGAAAAAATCACTTTGAAGAGGGACCCCCTGCTGCAGGCAGCCGATGGTAGGGGTATAAGTGGGAGGTACACAGGGCTCCACAGAGGTCAGGATCCCCCCAGGCGGCAGGCACTTGACCTGCTTGACCACTTAGGGCTGTGGCCCTGGAATTTGACCTTGGAGTAATGACCACCAGGACGGTGGCCTGGAGTCGTGGGAAGGAGGGGAGCATATCAAGACGGCTCCTTCCTGCCCTGCTCTGTCCCCAGAGCTGATGTCATCCCCCTTCTGTGAGCTGCACCAGCATGCTTGCTTTACTCTCCTCCTAAGTAACATTTCTGTTGTCTGCCATTGAGGCTCCCTAATTATGTAACTCTCTCCATTTCACCAATGGGTCACAGGCCTGGGGGGCAACAGAGTGGTTTCTCCCAGGATGTCCCTGGAAGGAGTTGGGGTAGGGGAGGAGGCTGCCCTCACCCAGCGTGGCCAGCACGTGGCGAAGCTCAGCACCCACGACAGTGCCATTGCCCTCCTTGTCGAAGACCCGCAGCCCCTCCACGAAGTCCTCATAGGTGCCTGTGTCCTTGTTCTTGGAAATGTGCTGGAGCATAGGCAGGAAAGTTTCAAAGTCCATCATCTTGGTATTGAGCTCTGCAGAGAAATGGTCCCAGGTTCCAGGGTCTAAGGCTGGGGTGGGCACACCCCTCCCCCATGCCTGATAATGAGGAGCTATCCCCACCTCTCACACAGTTCTACAACAGTCTACACCAGTTCTCACAGCAGTCTACACCAGTTTGCCATTTAAAAGCAAACTACCATCGCGAGGCACTTTACAGTCTACTGAGCAATGCACTGTTTCCATAGCCCTTTGCTATTCACAAAGGGAGTTTGCTGCCCTGAGCCACCACGGAGGGCTCTGTCCAGAACCCCTTGCCTACTTTTGGGAAACAGTCCTCCCCTCGTGGCATTTTCTTATAGACCTCACCCTCCACCACCTGTGATTGGGTCAGGAGCAGCTAGGCCAATCAGAGACCTTCCCTGGGACTTTTGAACCCTTGGTGGGGGCTTGGGCCTCACTCCTTTTTTTTTTTTTAGCTTTAAAATTTTATTCATTTATGTATTTATTCATTCATTTATTTATTTTTAGACACGAGGTCTTCTTGTTACGTCACACAGACTGGAGTACAGTGGTGTGATTATAGCTCACTGCAACCTCAAATTCCTGGGCTCACGGGATCCTCCTGGCTCAGCTTCCTGAGTAGCTGGGACCATAGGTGCATGTCACCATGCCAAGCTAAATTTTTAATTTTTGTAGAGATAGAATCTCACTATGTTACCCAGGCTGGTCTCACTCCTGGCCTCAAGTGATCCTCCCAAAGCATTGGGATGACAGCATCCCACTGCCCACTGCTGTCACTGCCCGACCTTCTCACTTCTCCATAGGTGTCAGCGCCTACCACCAGGGGGCCTGGCAAATCAGCATGGATCCAGATGCTCCAGCAAACCATTACTGCATGTCACCTGGTCGGCATGGCCCTGTGACTGGCCTCGGTGCCCTCATCGGGACAATGCGAGATGTCAGGAAAGATTCTCGTGCTATCCCGCAGGATGGATGGCAGCCCACCCAGCCAGTCTCCCCGGTACTAACACTATGGGGGCTCTCGGGCAGGTGCACTACCTTCCTGTCTTGGCTTCCCCAGGACACGGAGCACTTCTGCCTGTGTGGGGTTCTGGCCCAGCGCCCGCAGGACATCCCCACACTGCCCGTAGGTGATCTTCATCTCACACTTGGGTGTGCGGTCGAACAGCATGAAGGCTTCCTTGAACTCTGCCAGGAGAGGGCAGTGAGCCACAGACACTCCCAGGGTCAGCCTACCCCACTCCCCACACCCCTGGCAGGACCCTCAGACCAGGGAACCCCAGCCCAATCCTGCAACCCCTGGGTTCAAGACCCCTGCTCACCTTCAATCTGCTCAGGTGTGAACTCAATCTGAAAAGAGACCCCAAAGACTCAGATGCCCGGCTTAAAAGGTGGGGCCACACCTCCTCCTGGGCACTCGGTGGCCAGCCCAGAATGTCAACTGTCTCAGCCTGTCCCATTCCAGCATCCCAGCCTGCACCCCCAGGACCTCCTGCAGTCCATCTTGACGCCCTCCTGCCTCCTTGCCCCCCTCCACCTCTCCAGCCAGAAGGCCTTGAGGCTGTGTGCACCGAGGCCCTGATGCTCGGTGGACCCTGGCAGGGGTAGCAGTGAGGAGGGAGGCCACATGCCCAAGGCCTCAGGCCAGCGTGGGCCTTACCTGATGCTCCCGGTTCTGGACAGATGTACCTTAAGCCACAAGCCCCAGTCAGGCTGGCTTTGCTTGGGGCCTGGTGGGCAGGACTGTCAGCAAAAGTGAGATGGGAGGGCCCAGGGTGGTAGAAGGAGTAAGGGCAATGGTACAGGCCGAGGGCTGGTGGCTGGAAGCATCGAGGGTGAGCACAAGTGTGCATGTTTGTGTGTGAGCATGTGTCTACATACGTCTGCCCTCACAGAGCCCCCTAAGCCCTAAAGACCAGGC
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Task1_train_6708
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This mutation occurs in LOC129936652, PTH1R (ATAC-STARR-seq lymphoblastoid silent region 14297| parathyroid hormone 1 receptor) on Chromosome 3. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Metaphyseal chondrodysplasia, Jansen type
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GCATCCAGCTGGCATGGGCTTGGATCCACCCACCCCCATTGCACTGTCCCTCTGATGTGAGCTCATGCTTCTTGGCTCTTATAGAAAGTAAAAGGCTGCAGCCACATCCCCAGGCAAGGGGCTGGGAGAAGACAGAGTGTAGTGGGAAGGAAGGGGAGCTAGATGGCTCAGGCCTCAGAAAGAGATGAACAGAGAACTCTCCAGCACCACACCAAGAGTGGACCCAGGGCTACGGTCCCACCCATGGAGAGAAAGAGAGATGACAGAGAACCCTGGGGGACAGAGAGGCAGGGAGAGATACACAAAGACAGACAGATAGTGACAGAGAAAGACGGGGAGAGGCATGGAGACAGAGATCAACAGAGGCAGGGAGAGACAGTCACAGAGATAGAGGGGACCAGGAGGCACACACTGAAGTCTGGGCTCAGTGTGTCAGAGGAGGTACATGGGGACACATAGTGGATAGGGCCACAGAAATAGAGAAGGAGAGGAGGGCAGTGGCAGAGGGTGGGGCCAGAGGCAGTGGGACAAGGAGGGGAGAAGAGAAGGGAGGGAAGCAGATGAGGAAAGGCAGACAGAGCCCAGGCTTTGGCCACAGGGCCGGTTTCAGCCGGCCGGGTGGGCAGCAGATTCCAGATGGGCCACATCTGGGAGGCTGTGGTCACCCTGTGGCTCCCTGGGGACCAGAGGGAATTGTGGGCCTGGCTGGGTGGGGCTGGGAATATGGCGCCCAGGACAGAGAGCCTTTCACCAAGCCAGGGCGGGTCCAGCCATCAAGGCAGCCTTCCAGGGTGGCTGGAGAGTCCTGTGGTTGGAGCCCTACAGAGGGAGAGAAGGGGGCTGCAAGCTGGGAGTGGAATGTGGAAGATACAGAGGCTGGGGACCCTCCAAGGTCACTTAGCCTCCCTGCAGTGAGGCTGGGGCTCCAAAGTGGGATGTCACCCTACTTTGAATCCCACCATTAGCACTTAGATTTGGGGAATCGATCTCCCCCAGCAGTGGCCGTGGGAGTCTCACAGCAGGTACTCAGGGCAGGCATTGAGTGGTGGTAGAAGCATGGGCCAATGTGGTTAATCCCAACTTCCCAATGAGGAAATGGAAATAGAAAGACTTGGGACACCTGCGTGAGGTCAGCAGCTCCTTGGAGTCCAGCTGGCACTAGAAACCAGACCTCCTGCCTCCTGTCCATGATCCCAGGGGAAGGGGCACACAGGGAGCCTCCCAGCTGAGGGAGAGTTAGTCTGGGTACTTGCCCTTCTTCAGAGACACCTGGAAGGTGGTTCCAAGAGCAGAGAGAAAGGCGAGAGGCCTGGCCTGGGGCTGAGCACTTGAAGAGGACAGGGCCCTGTGTTGTATGACCTCAGCAAGTTGCCTACCTCTCTTGGCCTCTGTCAGCCCATCTGGAAAATGGGGCCAGTGCCAGTACCTGTATCGCAGAGGCCATAGTAAATTCTATGAGGTGGGTACAGCCCACAGAAATACATTTTCTCCAGAGTGCTCCAAAGCCTGAATTTTCCTGCTTGGGGCACACCTGTCCCTGCAGGAACCAACAACCACTGATGGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCATTGCCCTCCAGCCTGAGCAACAAAAGCGAAACTCCGTCTCAAAAAAACAAAACAAAACAAAAACAAAAACAAACAAACCACAGATGTATTCATCCTTCTGGGTCACTAATCATGGCCTTGACTCTCCCTTGGTATCCCCTACCCTGTCTGTCTCTGGGCACAGGGCGCCCCTGTCTGCCGGAATGGGACCACATCCTGTGCTGGCCGCTGGGGGCACCAGGTGAGGTGGTGGCTGTGCCCTGTCCGGACTACATTTATGACTTCAATCACAAAGGTGAGGCCTGCTGGAAGGGGTGGGGATTACAAGGAGGCTGAGACTTGGAGCTAGGGGTTCAGTGCCTCGAGACCTCCCTGCCGGCCCTGACCTCCCATGGACCTGCAGGCCATGCCTACCGACGCTGTGACCGCAATGGCAGCTGGGAGCTGGTGCCTGGGCACAACAGGACGTGGGCCAACTACAGCGAGTGTGTCAAATTTCTCACCAATGAGACTCGTGAACGGGTGCGAGCCTTTCTCCTCCCCAACCTGACCAGGATAAATTCACTCCCACCCCACGGGTGACCCCTGACCCAGCCCTGACCCCTGACCTTGACTCCTCCAGCAACCTTACCCTGGCCTCTTGCTCTTACCCTGATGCTCTCCCTGGGTCCCAGGGCTCTGACTGTGTCTCCCCCCGCCCCGCACAGGAGGTGTTTGACCGCCTGGGCATGATTTACACCGTGGGCTACTCCGTGTCCCTGGCGTCCCTCACCGTAGCTGTGCTCATCCTGGCCTACTTTAGGTGGGCGGGGCGGGGCGAGAGGCGGCGGGACATGGTGGAGGGGGGGCGGTGGCCGAGGTCTGATGCGACCCCCTCCCTGCACCCATCACCCCCGGCGGGTGTCCCTACCTACGGCGCACAACCCAGCTTCCTGTCCACCCACCGCGCGTCCCCGTGCCCCCACCCACGGTCATGTCGCGCGCCCCGCAGGCGGCTGCACTGCACGCGCAACTACATCCACATGCACCTGTTCCTGTCCTTCATGCTGCGCGCCGTGAGCATCTTCGTCAAGGACGCTGTGCTCTACTCTGGCGCCACGCTTGATGAGGCTGAGCGCCTCACCGAGGAGGAGCTGCGCGCCATCGCCCAGGCGCCCCCGCCGCCTGCCACCGCCGCTGCCGGCTACGTGAGTACCCCTCTGCCCGCCCGCTCCCGGTGCCGCCACTGGCCTCGTGGGGCCCCGCCCCGCCCCGCTCCAGCCCGGCCCTCGCCCTGCCCGCCTCCTGCCAGCGCCACTGGCTTCAGCCACTCAAACCCGTCTTATAGGGTCCCTCGCAACCCTCAGCTCTGCCGCCGACCCTGCTGCCAAGGGCTCCGAGTGTCCCACACGCCCCGCGCTGCCATCAAGGCTCCTACCTCAACCCAGTACCCTCTAGCCACTCTACCTCTTCACTTTGCCTCCTGCCCCTGACACCGCATCCCCCTGAGAGAGCCCCCCAAACGAAGCCTGCCCCTTCCTGGCCTGTTTGGCCGGCACCACTTGTCCTCTCCTGCCGCCCCAGCCCCCCAGCCCAGCCCTGACTTCCCGGAGGCAGGCCCTGCCCTCTGACTAACACCAGCTGGTCTCTTAGGCGGGCTGCAGGGTGGCTGTGACCTTCTTCCTTTACTTCCTGGCCACCAACTACTACTGGATTCTGGTGGAGGGGCTGTACCTGCACAGCCTCATCTTCATGGCCTTCTTCTCAGAGAAGAAGTACCTGTGGGGCTTCACAGTCTTCGGCTGGGGTACGCGGGCACAGCGGGTAGCGAGGTGCCGGCAGGGGTGGGACCGTGGGTGACAGGGAGAGGGCAGCCCCTGGGGGGAGGCGCCCACACAGCACATCCCGCCCCAAGTGGAACAGCAGGAGAGAGGCCTGCCGCCCTTCTGTGATCCTGACCCTATTCCAGGCTCAGGAAACAGCAGGGCTTGGCCAGGGATCAGGTTCACCTGAGGTTAGATTCACCTGAATTGAGGCTCGGCCCAGGAGAGGGAAAGGAGGAACCATCAGGCCAAGATTCAGCTCAGGATCAGAGTAGGATACTGGGTCAGAGGTCAGCCTGGGGCTGGAATTGGGATCCGGGACCCTCCCTCTACCCTGAGCCCCATGGACTAGGCCAGCATCTATTACCCCACCAGTCCCCTTGCTGGGATGGGGCGCGGGGCTGCCCACACCATTGCCAGCCTCAGCAGGCCTGCGGGGTCCATGGCCCAGAGCCGTGGGCCCAGCACCTCAGCATCACCTGAGCTTCACAGCACCTCTGCAGAATGGGTT
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GCATCCAGCTGGCATGGGCTTGGATCCACCCACCCCCATTGCACTGTCCCTCTGATGTGAGCTCATGCTTCTTGGCTCTTATAGAAAGTAAAAGGCTGCAGCCACATCCCCAGGCAAGGGGCTGGGAGAAGACAGAGTGTAGTGGGAAGGAAGGGGAGCTAGATGGCTCAGGCCTCAGAAAGAGATGAACAGAGAACTCTCCAGCACCACACCAAGAGTGGACCCAGGGCTACGGTCCCACCCATGGAGAGAAAGAGAGATGACAGAGAACCCTGGGGGACAGAGAGGCAGGGAGAGATACACAAAGACAGACAGATAGTGACAGAGAAAGACGGGGAGAGGCATGGAGACAGAGATCAACAGAGGCAGGGAGAGACAGTCACAGAGATAGAGGGGACCAGGAGGCACACACTGAAGTCTGGGCTCAGTGTGTCAGAGGAGGTACATGGGGACACATAGTGGATAGGGCCACAGAAATAGAGAAGGAGAGGAGGGCAGTGGCAGAGGGTGGGGCCAGAGGCAGTGGGACAAGGAGGGGAGAAGAGAAGGGAGGGAAGCAGATGAGGAAAGGCAGACAGAGCCCAGGCTTTGGCCACAGGGCCGGTTTCAGCCGGCCGGGTGGGCAGCAGATTCCAGATGGGCCACATCTGGGAGGCTGTGGTCACCCTGTGGCTCCCTGGGGACCAGAGGGAATTGTGGGCCTGGCTGGGTGGGGCTGGGAATATGGCGCCCAGGACAGAGAGCCTTTCACCAAGCCAGGGCGGGTCCAGCCATCAAGGCAGCCTTCCAGGGTGGCTGGAGAGTCCTGTGGTTGGAGCCCTACAGAGGGAGAGAAGGGGGCTGCAAGCTGGGAGTGGAATGTGGAAGATACAGAGGCTGGGGACCCTCCAAGGTCACTTAGCCTCCCTGCAGTGAGGCTGGGGCTCCAAAGTGGGATGTCACCCTACTTTGAATCCCACCATTAGCACTTAGATTTGGGGAATCGATCTCCCCCAGCAGTGGCCGTGGGAGTCTCACAGCAGGTACTCAGGGCAGGCATTGAGTGGTGGTAGAAGCATGGGCCAATGTGGTTAATCCCAACTTCCCAATGAGGAAATGGAAATAGAAAGACTTGGGACACCTGCGTGAGGTCAGCAGCTCCTTGGAGTCCAGCTGGCACTAGAAACCAGACCTCCTGCCTCCTGTCCATGATCCCAGGGGAAGGGGCACACAGGGAGCCTCCCAGCTGAGGGAGAGTTAGTCTGGGTACTTGCCCTTCTTCAGAGACACCTGGAAGGTGGTTCCAAGAGCAGAGAGAAAGGCGAGAGGCCTGGCCTGGGGCTGAGCACTTGAAGAGGACAGGGCCCTGTGTTGTATGACCTCAGCAAGTTGCCTACCTCTCTTGGCCTCTGTCAGCCCATCTGGAAAATGGGGCCAGTGCCAGTACCTGTATCGCAGAGGCCATAGTAAATTCTATGAGGTGGGTACAGCCCACAGAAATACATTTTCTCCAGAGTGCTCCAAAGCCTGAATTTTCCTGCTTGGGGCACACCTGTCCCTGCAGGAACCAACAACCACTGATGGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCATTGCCCTCCAGCCTGAGCAACAAAAGCGAAACTCCGTCTCAAAAAAACAAAACAAAACAAAAACAAAAACAAACAAACCACAGATGTATTCATCCTTCTGGGTCACTAATCATGGCCTTGACTCTCCCTTGGTATCCCCTACCCTGTCTGTCTCTGGGCACAGGGCGCCCCTGTCTGCCGGAATGGGACCACATCCTGTGCTGGCCGCTGGGGGCACCAGGTGAGGTGGTGGCTGTGCCCTGTCTGGACTACATTTATGACTTCAATCACAAAGGTGAGGCCTGCTGGAAGGGGTGGGGATTACAAGGAGGCTGAGACTTGGAGCTAGGGGTTCAGTGCCTCGAGACCTCCCTGCCGGCCCTGACCTCCCATGGACCTGCAGGCCATGCCTACCGACGCTGTGACCGCAATGGCAGCTGGGAGCTGGTGCCTGGGCACAACAGGACGTGGGCCAACTACAGCGAGTGTGTCAAATTTCTCACCAATGAGACTCGTGAACGGGTGCGAGCCTTTCTCCTCCCCAACCTGACCAGGATAAATTCACTCCCACCCCACGGGTGACCCCTGACCCAGCCCTGACCCCTGACCTTGACTCCTCCAGCAACCTTACCCTGGCCTCTTGCTCTTACCCTGATGCTCTCCCTGGGTCCCAGGGCTCTGACTGTGTCTCCCCCCGCCCCGCACAGGAGGTGTTTGACCGCCTGGGCATGATTTACACCGTGGGCTACTCCGTGTCCCTGGCGTCCCTCACCGTAGCTGTGCTCATCCTGGCCTACTTTAGGTGGGCGGGGCGGGGCGAGAGGCGGCGGGACATGGTGGAGGGGGGGCGGTGGCCGAGGTCTGATGCGACCCCCTCCCTGCACCCATCACCCCCGGCGGGTGTCCCTACCTACGGCGCACAACCCAGCTTCCTGTCCACCCACCGCGCGTCCCCGTGCCCCCACCCACGGTCATGTCGCGCGCCCCGCAGGCGGCTGCACTGCACGCGCAACTACATCCACATGCACCTGTTCCTGTCCTTCATGCTGCGCGCCGTGAGCATCTTCGTCAAGGACGCTGTGCTCTACTCTGGCGCCACGCTTGATGAGGCTGAGCGCCTCACCGAGGAGGAGCTGCGCGCCATCGCCCAGGCGCCCCCGCCGCCTGCCACCGCCGCTGCCGGCTACGTGAGTACCCCTCTGCCCGCCCGCTCCCGGTGCCGCCACTGGCCTCGTGGGGCCCCGCCCCGCCCCGCTCCAGCCCGGCCCTCGCCCTGCCCGCCTCCTGCCAGCGCCACTGGCTTCAGCCACTCAAACCCGTCTTATAGGGTCCCTCGCAACCCTCAGCTCTGCCGCCGACCCTGCTGCCAAGGGCTCCGAGTGTCCCACACGCCCCGCGCTGCCATCAAGGCTCCTACCTCAACCCAGTACCCTCTAGCCACTCTACCTCTTCACTTTGCCTCCTGCCCCTGACACCGCATCCCCCTGAGAGAGCCCCCCAAACGAAGCCTGCCCCTTCCTGGCCTGTTTGGCCGGCACCACTTGTCCTCTCCTGCCGCCCCAGCCCCCCAGCCCAGCCCTGACTTCCCGGAGGCAGGCCCTGCCCTCTGACTAACACCAGCTGGTCTCTTAGGCGGGCTGCAGGGTGGCTGTGACCTTCTTCCTTTACTTCCTGGCCACCAACTACTACTGGATTCTGGTGGAGGGGCTGTACCTGCACAGCCTCATCTTCATGGCCTTCTTCTCAGAGAAGAAGTACCTGTGGGGCTTCACAGTCTTCGGCTGGGGTACGCGGGCACAGCGGGTAGCGAGGTGCCGGCAGGGGTGGGACCGTGGGTGACAGGGAGAGGGCAGCCCCTGGGGGGAGGCGCCCACACAGCACATCCCGCCCCAAGTGGAACAGCAGGAGAGAGGCCTGCCGCCCTTCTGTGATCCTGACCCTATTCCAGGCTCAGGAAACAGCAGGGCTTGGCCAGGGATCAGGTTCACCTGAGGTTAGATTCACCTGAATTGAGGCTCGGCCCAGGAGAGGGAAAGGAGGAACCATCAGGCCAAGATTCAGCTCAGGATCAGAGTAGGATACTGGGTCAGAGGTCAGCCTGGGGCTGGAATTGGGATCCGGGACCCTCCCTCTACCCTGAGCCCCATGGACTAGGCCAGCATCTATTACCCCACCAGTCCCCTTGCTGGGATGGGGCGCGGGGCTGCCCACACCATTGCCAGCCTCAGCAGGCCTGCGGGGTCCATGGCCCAGAGCCGTGGGCCCAGCACCTCAGCATCACCTGAGCTTCACAGCACCTCTGCAGAATGGGTT
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Task1_train_6709
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This mutation is located in gene LOC129936652, PTH1R (ATAC-STARR-seq lymphoblastoid silent region 14297| parathyroid hormone 1 receptor) on Chromosome 3. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Chondrodysplasia Blomstrand type
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GCATCCAGCTGGCATGGGCTTGGATCCACCCACCCCCATTGCACTGTCCCTCTGATGTGAGCTCATGCTTCTTGGCTCTTATAGAAAGTAAAAGGCTGCAGCCACATCCCCAGGCAAGGGGCTGGGAGAAGACAGAGTGTAGTGGGAAGGAAGGGGAGCTAGATGGCTCAGGCCTCAGAAAGAGATGAACAGAGAACTCTCCAGCACCACACCAAGAGTGGACCCAGGGCTACGGTCCCACCCATGGAGAGAAAGAGAGATGACAGAGAACCCTGGGGGACAGAGAGGCAGGGAGAGATACACAAAGACAGACAGATAGTGACAGAGAAAGACGGGGAGAGGCATGGAGACAGAGATCAACAGAGGCAGGGAGAGACAGTCACAGAGATAGAGGGGACCAGGAGGCACACACTGAAGTCTGGGCTCAGTGTGTCAGAGGAGGTACATGGGGACACATAGTGGATAGGGCCACAGAAATAGAGAAGGAGAGGAGGGCAGTGGCAGAGGGTGGGGCCAGAGGCAGTGGGACAAGGAGGGGAGAAGAGAAGGGAGGGAAGCAGATGAGGAAAGGCAGACAGAGCCCAGGCTTTGGCCACAGGGCCGGTTTCAGCCGGCCGGGTGGGCAGCAGATTCCAGATGGGCCACATCTGGGAGGCTGTGGTCACCCTGTGGCTCCCTGGGGACCAGAGGGAATTGTGGGCCTGGCTGGGTGGGGCTGGGAATATGGCGCCCAGGACAGAGAGCCTTTCACCAAGCCAGGGCGGGTCCAGCCATCAAGGCAGCCTTCCAGGGTGGCTGGAGAGTCCTGTGGTTGGAGCCCTACAGAGGGAGAGAAGGGGGCTGCAAGCTGGGAGTGGAATGTGGAAGATACAGAGGCTGGGGACCCTCCAAGGTCACTTAGCCTCCCTGCAGTGAGGCTGGGGCTCCAAAGTGGGATGTCACCCTACTTTGAATCCCACCATTAGCACTTAGATTTGGGGAATCGATCTCCCCCAGCAGTGGCCGTGGGAGTCTCACAGCAGGTACTCAGGGCAGGCATTGAGTGGTGGTAGAAGCATGGGCCAATGTGGTTAATCCCAACTTCCCAATGAGGAAATGGAAATAGAAAGACTTGGGACACCTGCGTGAGGTCAGCAGCTCCTTGGAGTCCAGCTGGCACTAGAAACCAGACCTCCTGCCTCCTGTCCATGATCCCAGGGGAAGGGGCACACAGGGAGCCTCCCAGCTGAGGGAGAGTTAGTCTGGGTACTTGCCCTTCTTCAGAGACACCTGGAAGGTGGTTCCAAGAGCAGAGAGAAAGGCGAGAGGCCTGGCCTGGGGCTGAGCACTTGAAGAGGACAGGGCCCTGTGTTGTATGACCTCAGCAAGTTGCCTACCTCTCTTGGCCTCTGTCAGCCCATCTGGAAAATGGGGCCAGTGCCAGTACCTGTATCGCAGAGGCCATAGTAAATTCTATGAGGTGGGTACAGCCCACAGAAATACATTTTCTCCAGAGTGCTCCAAAGCCTGAATTTTCCTGCTTGGGGCACACCTGTCCCTGCAGGAACCAACAACCACTGATGGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCATTGCCCTCCAGCCTGAGCAACAAAAGCGAAACTCCGTCTCAAAAAAACAAAACAAAACAAAAACAAAAACAAACAAACCACAGATGTATTCATCCTTCTGGGTCACTAATCATGGCCTTGACTCTCCCTTGGTATCCCCTACCCTGTCTGTCTCTGGGCACAGGGCGCCCCTGTCTGCCGGAATGGGACCACATCCTGTGCTGGCCGCTGGGGGCACCAGGTGAGGTGGTGGCTGTGCCCTGTCCGGACTACATTTATGACTTCAATCACAAAGGTGAGGCCTGCTGGAAGGGGTGGGGATTACAAGGAGGCTGAGACTTGGAGCTAGGGGTTCAGTGCCTCGAGACCTCCCTGCCGGCCCTGACCTCCCATGGACCTGCAGGCCATGCCTACCGACGCTGTGACCGCAATGGCAGCTGGGAGCTGGTGCCTGGGCACAACAGGACGTGGGCCAACTACAGCGAGTGTGTCAAATTTCTCACCAATGAGACTCGTGAACGGGTGCGAGCCTTTCTCCTCCCCAACCTGACCAGGATAAATTCACTCCCACCCCACGGGTGACCCCTGACCCAGCCCTGACCCCTGACCTTGACTCCTCCAGCAACCTTACCCTGGCCTCTTGCTCTTACCCTGATGCTCTCCCTGGGTCCCAGGGCTCTGACTGTGTCTCCCCCCGCCCCGCACAGGAGGTGTTTGACCGCCTGGGCATGATTTACACCGTGGGCTACTCCGTGTCCCTGGCGTCCCTCACCGTAGCTGTGCTCATCCTGGCCTACTTTAGGTGGGCGGGGCGGGGCGAGAGGCGGCGGGACATGGTGGAGGGGGGGCGGTGGCCGAGGTCTGATGCGACCCCCTCCCTGCACCCATCACCCCCGGCGGGTGTCCCTACCTACGGCGCACAACCCAGCTTCCTGTCCACCCACCGCGCGTCCCCGTGCCCCCACCCACGGTCATGTCGCGCGCCCCGCAGGCGGCTGCACTGCACGCGCAACTACATCCACATGCACCTGTTCCTGTCCTTCATGCTGCGCGCCGTGAGCATCTTCGTCAAGGACGCTGTGCTCTACTCTGGCGCCACGCTTGATGAGGCTGAGCGCCTCACCGAGGAGGAGCTGCGCGCCATCGCCCAGGCGCCCCCGCCGCCTGCCACCGCCGCTGCCGGCTACGTGAGTACCCCTCTGCCCGCCCGCTCCCGGTGCCGCCACTGGCCTCGTGGGGCCCCGCCCCGCCCCGCTCCAGCCCGGCCCTCGCCCTGCCCGCCTCCTGCCAGCGCCACTGGCTTCAGCCACTCAAACCCGTCTTATAGGGTCCCTCGCAACCCTCAGCTCTGCCGCCGACCCTGCTGCCAAGGGCTCCGAGTGTCCCACACGCCCCGCGCTGCCATCAAGGCTCCTACCTCAACCCAGTACCCTCTAGCCACTCTACCTCTTCACTTTGCCTCCTGCCCCTGACACCGCATCCCCCTGAGAGAGCCCCCCAAACGAAGCCTGCCCCTTCCTGGCCTGTTTGGCCGGCACCACTTGTCCTCTCCTGCCGCCCCAGCCCCCCAGCCCAGCCCTGACTTCCCGGAGGCAGGCCCTGCCCTCTGACTAACACCAGCTGGTCTCTTAGGCGGGCTGCAGGGTGGCTGTGACCTTCTTCCTTTACTTCCTGGCCACCAACTACTACTGGATTCTGGTGGAGGGGCTGTACCTGCACAGCCTCATCTTCATGGCCTTCTTCTCAGAGAAGAAGTACCTGTGGGGCTTCACAGTCTTCGGCTGGGGTACGCGGGCACAGCGGGTAGCGAGGTGCCGGCAGGGGTGGGACCGTGGGTGACAGGGAGAGGGCAGCCCCTGGGGGGAGGCGCCCACACAGCACATCCCGCCCCAAGTGGAACAGCAGGAGAGAGGCCTGCCGCCCTTCTGTGATCCTGACCCTATTCCAGGCTCAGGAAACAGCAGGGCTTGGCCAGGGATCAGGTTCACCTGAGGTTAGATTCACCTGAATTGAGGCTCGGCCCAGGAGAGGGAAAGGAGGAACCATCAGGCCAAGATTCAGCTCAGGATCAGAGTAGGATACTGGGTCAGAGGTCAGCCTGGGGCTGGAATTGGGATCCGGGACCCTCCCTCTACCCTGAGCCCCATGGACTAGGCCAGCATCTATTACCCCACCAGTCCCCTTGCTGGGATGGGGCGCGGGGCTGCCCACACCATTGCCAGCCTCAGCAGGCCTGCGGGGTCCATGGCCCAGAGCCGTGGGCCCAGCACCTCAGCATCACCTGAGCTTCACAGCACCTCTGCAGAATGGGTT
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GCATCCAGCTGGCATGGGCTTGGATCCACCCACCCCCATTGCACTGTCCCTCTGATGTGAGCTCATGCTTCTTGGCTCTTATAGAAAGTAAAAGGCTGCAGCCACATCCCCAGGCAAGGGGCTGGGAGAAGACAGAGTGTAGTGGGAAGGAAGGGGAGCTAGATGGCTCAGGCCTCAGAAAGAGATGAACAGAGAACTCTCCAGCACCACACCAAGAGTGGACCCAGGGCTACGGTCCCACCCATGGAGAGAAAGAGAGATGACAGAGAACCCTGGGGGACAGAGAGGCAGGGAGAGATACACAAAGACAGACAGATAGTGACAGAGAAAGACGGGGAGAGGCATGGAGACAGAGATCAACAGAGGCAGGGAGAGACAGTCACAGAGATAGAGGGGACCAGGAGGCACACACTGAAGTCTGGGCTCAGTGTGTCAGAGGAGGTACATGGGGACACATAGTGGATAGGGCCACAGAAATAGAGAAGGAGAGGAGGGCAGTGGCAGAGGGTGGGGCCAGAGGCAGTGGGACAAGGAGGGGAGAAGAGAAGGGAGGGAAGCAGATGAGGAAAGGCAGACAGAGCCCAGGCTTTGGCCACAGGGCCGGTTTCAGCCGGCCGGGTGGGCAGCAGATTCCAGATGGGCCACATCTGGGAGGCTGTGGTCACCCTGTGGCTCCCTGGGGACCAGAGGGAATTGTGGGCCTGGCTGGGTGGGGCTGGGAATATGGCGCCCAGGACAGAGAGCCTTTCACCAAGCCAGGGCGGGTCCAGCCATCAAGGCAGCCTTCCAGGGTGGCTGGAGAGTCCTGTGGTTGGAGCCCTACAGAGGGAGAGAAGGGGGCTGCAAGCTGGGAGTGGAATGTGGAAGATACAGAGGCTGGGGACCCTCCAAGGTCACTTAGCCTCCCTGCAGTGAGGCTGGGGCTCCAAAGTGGGATGTCACCCTACTTTGAATCCCACCATTAGCACTTAGATTTGGGGAATCGATCTCCCCCAGCAGTGGCCGTGGGAGTCTCACAGCAGGTACTCAGGGCAGGCATTGAGTGGTGGTAGAAGCATGGGCCAATGTGGTTAATCCCAACTTCCCAATGAGGAAATGGAAATAGAAAGACTTGGGACACCTGCGTGAGGTCAGCAGCTCCTTGGAGTCCAGCTGGCACTAGAAACCAGACCTCCTGCCTCCTGTCCATGATCCCAGGGGAAGGGGCACACAGGGAGCCTCCCAGCTGAGGGAGAGTTAGTCTGGGTACTTGCCCTTCTTCAGAGACACCTGGAAGGTGGTTCCAAGAGCAGAGAGAAAGGCGAGAGGCCTGGCCTGGGGCTGAGCACTTGAAGAGGACAGGGCCCTGTGTTGTATGACCTCAGCAAGTTGCCTACCTCTCTTGGCCTCTGTCAGCCCATCTGGAAAATGGGGCCAGTGCCAGTACCTGTATCGCAGAGGCCATAGTAAATTCTATGAGGTGGGTACAGCCCACAGAAATACATTTTCTCCAGAGTGCTCCAAAGCCTGAATTTTCCTGCTTGGGGCACACCTGTCCCTGCAGGAACCAACAACCACTGATGGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCATTGCCCTCCAGCCTGAGCAACAAAAGCGAAACTCCGTCTCAAAAAAACAAAACAAAACAAAAACAAAAACAAACAAACCACAGATGTATTCATCCTTCTGGGTCACTAATCATGGCCTTGACTCTCCCTTGGTATCCCCTACCCTGTCTGTCTCTGGGCACAGGGCGCCCCTGTCTGCCGGAATGGGACCACATCCTGTGCTGGCCGCTGGGGGCACCAGGTGAGGTGGTGGCTGTGCCCTGTCTGGACTACATTTATGACTTCAATCACAAAGGTGAGGCCTGCTGGAAGGGGTGGGGATTACAAGGAGGCTGAGACTTGGAGCTAGGGGTTCAGTGCCTCGAGACCTCCCTGCCGGCCCTGACCTCCCATGGACCTGCAGGCCATGCCTACCGACGCTGTGACCGCAATGGCAGCTGGGAGCTGGTGCCTGGGCACAACAGGACGTGGGCCAACTACAGCGAGTGTGTCAAATTTCTCACCAATGAGACTCGTGAACGGGTGCGAGCCTTTCTCCTCCCCAACCTGACCAGGATAAATTCACTCCCACCCCACGGGTGACCCCTGACCCAGCCCTGACCCCTGACCTTGACTCCTCCAGCAACCTTACCCTGGCCTCTTGCTCTTACCCTGATGCTCTCCCTGGGTCCCAGGGCTCTGACTGTGTCTCCCCCCGCCCCGCACAGGAGGTGTTTGACCGCCTGGGCATGATTTACACCGTGGGCTACTCCGTGTCCCTGGCGTCCCTCACCGTAGCTGTGCTCATCCTGGCCTACTTTAGGTGGGCGGGGCGGGGCGAGAGGCGGCGGGACATGGTGGAGGGGGGGCGGTGGCCGAGGTCTGATGCGACCCCCTCCCTGCACCCATCACCCCCGGCGGGTGTCCCTACCTACGGCGCACAACCCAGCTTCCTGTCCACCCACCGCGCGTCCCCGTGCCCCCACCCACGGTCATGTCGCGCGCCCCGCAGGCGGCTGCACTGCACGCGCAACTACATCCACATGCACCTGTTCCTGTCCTTCATGCTGCGCGCCGTGAGCATCTTCGTCAAGGACGCTGTGCTCTACTCTGGCGCCACGCTTGATGAGGCTGAGCGCCTCACCGAGGAGGAGCTGCGCGCCATCGCCCAGGCGCCCCCGCCGCCTGCCACCGCCGCTGCCGGCTACGTGAGTACCCCTCTGCCCGCCCGCTCCCGGTGCCGCCACTGGCCTCGTGGGGCCCCGCCCCGCCCCGCTCCAGCCCGGCCCTCGCCCTGCCCGCCTCCTGCCAGCGCCACTGGCTTCAGCCACTCAAACCCGTCTTATAGGGTCCCTCGCAACCCTCAGCTCTGCCGCCGACCCTGCTGCCAAGGGCTCCGAGTGTCCCACACGCCCCGCGCTGCCATCAAGGCTCCTACCTCAACCCAGTACCCTCTAGCCACTCTACCTCTTCACTTTGCCTCCTGCCCCTGACACCGCATCCCCCTGAGAGAGCCCCCCAAACGAAGCCTGCCCCTTCCTGGCCTGTTTGGCCGGCACCACTTGTCCTCTCCTGCCGCCCCAGCCCCCCAGCCCAGCCCTGACTTCCCGGAGGCAGGCCCTGCCCTCTGACTAACACCAGCTGGTCTCTTAGGCGGGCTGCAGGGTGGCTGTGACCTTCTTCCTTTACTTCCTGGCCACCAACTACTACTGGATTCTGGTGGAGGGGCTGTACCTGCACAGCCTCATCTTCATGGCCTTCTTCTCAGAGAAGAAGTACCTGTGGGGCTTCACAGTCTTCGGCTGGGGTACGCGGGCACAGCGGGTAGCGAGGTGCCGGCAGGGGTGGGACCGTGGGTGACAGGGAGAGGGCAGCCCCTGGGGGGAGGCGCCCACACAGCACATCCCGCCCCAAGTGGAACAGCAGGAGAGAGGCCTGCCGCCCTTCTGTGATCCTGACCCTATTCCAGGCTCAGGAAACAGCAGGGCTTGGCCAGGGATCAGGTTCACCTGAGGTTAGATTCACCTGAATTGAGGCTCGGCCCAGGAGAGGGAAAGGAGGAACCATCAGGCCAAGATTCAGCTCAGGATCAGAGTAGGATACTGGGTCAGAGGTCAGCCTGGGGCTGGAATTGGGATCCGGGACCCTCCCTCTACCCTGAGCCCCATGGACTAGGCCAGCATCTATTACCCCACCAGTCCCCTTGCTGGGATGGGGCGCGGGGCTGCCCACACCATTGCCAGCCTCAGCAGGCCTGCGGGGTCCATGGCCCAGAGCCGTGGGCCCAGCACCTCAGCATCACCTGAGCTTCACAGCACCTCTGCAGAATGGGTT
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Task1_train_6710
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This gene mutation involves LOC129936652, PTH1R (ATAC-STARR-seq lymphoblastoid silent region 14297| parathyroid hormone 1 receptor) on Chromosome 3. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Eiken syndrome
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GCATCCAGCTGGCATGGGCTTGGATCCACCCACCCCCATTGCACTGTCCCTCTGATGTGAGCTCATGCTTCTTGGCTCTTATAGAAAGTAAAAGGCTGCAGCCACATCCCCAGGCAAGGGGCTGGGAGAAGACAGAGTGTAGTGGGAAGGAAGGGGAGCTAGATGGCTCAGGCCTCAGAAAGAGATGAACAGAGAACTCTCCAGCACCACACCAAGAGTGGACCCAGGGCTACGGTCCCACCCATGGAGAGAAAGAGAGATGACAGAGAACCCTGGGGGACAGAGAGGCAGGGAGAGATACACAAAGACAGACAGATAGTGACAGAGAAAGACGGGGAGAGGCATGGAGACAGAGATCAACAGAGGCAGGGAGAGACAGTCACAGAGATAGAGGGGACCAGGAGGCACACACTGAAGTCTGGGCTCAGTGTGTCAGAGGAGGTACATGGGGACACATAGTGGATAGGGCCACAGAAATAGAGAAGGAGAGGAGGGCAGTGGCAGAGGGTGGGGCCAGAGGCAGTGGGACAAGGAGGGGAGAAGAGAAGGGAGGGAAGCAGATGAGGAAAGGCAGACAGAGCCCAGGCTTTGGCCACAGGGCCGGTTTCAGCCGGCCGGGTGGGCAGCAGATTCCAGATGGGCCACATCTGGGAGGCTGTGGTCACCCTGTGGCTCCCTGGGGACCAGAGGGAATTGTGGGCCTGGCTGGGTGGGGCTGGGAATATGGCGCCCAGGACAGAGAGCCTTTCACCAAGCCAGGGCGGGTCCAGCCATCAAGGCAGCCTTCCAGGGTGGCTGGAGAGTCCTGTGGTTGGAGCCCTACAGAGGGAGAGAAGGGGGCTGCAAGCTGGGAGTGGAATGTGGAAGATACAGAGGCTGGGGACCCTCCAAGGTCACTTAGCCTCCCTGCAGTGAGGCTGGGGCTCCAAAGTGGGATGTCACCCTACTTTGAATCCCACCATTAGCACTTAGATTTGGGGAATCGATCTCCCCCAGCAGTGGCCGTGGGAGTCTCACAGCAGGTACTCAGGGCAGGCATTGAGTGGTGGTAGAAGCATGGGCCAATGTGGTTAATCCCAACTTCCCAATGAGGAAATGGAAATAGAAAGACTTGGGACACCTGCGTGAGGTCAGCAGCTCCTTGGAGTCCAGCTGGCACTAGAAACCAGACCTCCTGCCTCCTGTCCATGATCCCAGGGGAAGGGGCACACAGGGAGCCTCCCAGCTGAGGGAGAGTTAGTCTGGGTACTTGCCCTTCTTCAGAGACACCTGGAAGGTGGTTCCAAGAGCAGAGAGAAAGGCGAGAGGCCTGGCCTGGGGCTGAGCACTTGAAGAGGACAGGGCCCTGTGTTGTATGACCTCAGCAAGTTGCCTACCTCTCTTGGCCTCTGTCAGCCCATCTGGAAAATGGGGCCAGTGCCAGTACCTGTATCGCAGAGGCCATAGTAAATTCTATGAGGTGGGTACAGCCCACAGAAATACATTTTCTCCAGAGTGCTCCAAAGCCTGAATTTTCCTGCTTGGGGCACACCTGTCCCTGCAGGAACCAACAACCACTGATGGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCATTGCCCTCCAGCCTGAGCAACAAAAGCGAAACTCCGTCTCAAAAAAACAAAACAAAACAAAAACAAAAACAAACAAACCACAGATGTATTCATCCTTCTGGGTCACTAATCATGGCCTTGACTCTCCCTTGGTATCCCCTACCCTGTCTGTCTCTGGGCACAGGGCGCCCCTGTCTGCCGGAATGGGACCACATCCTGTGCTGGCCGCTGGGGGCACCAGGTGAGGTGGTGGCTGTGCCCTGTCCGGACTACATTTATGACTTCAATCACAAAGGTGAGGCCTGCTGGAAGGGGTGGGGATTACAAGGAGGCTGAGACTTGGAGCTAGGGGTTCAGTGCCTCGAGACCTCCCTGCCGGCCCTGACCTCCCATGGACCTGCAGGCCATGCCTACCGACGCTGTGACCGCAATGGCAGCTGGGAGCTGGTGCCTGGGCACAACAGGACGTGGGCCAACTACAGCGAGTGTGTCAAATTTCTCACCAATGAGACTCGTGAACGGGTGCGAGCCTTTCTCCTCCCCAACCTGACCAGGATAAATTCACTCCCACCCCACGGGTGACCCCTGACCCAGCCCTGACCCCTGACCTTGACTCCTCCAGCAACCTTACCCTGGCCTCTTGCTCTTACCCTGATGCTCTCCCTGGGTCCCAGGGCTCTGACTGTGTCTCCCCCCGCCCCGCACAGGAGGTGTTTGACCGCCTGGGCATGATTTACACCGTGGGCTACTCCGTGTCCCTGGCGTCCCTCACCGTAGCTGTGCTCATCCTGGCCTACTTTAGGTGGGCGGGGCGGGGCGAGAGGCGGCGGGACATGGTGGAGGGGGGGCGGTGGCCGAGGTCTGATGCGACCCCCTCCCTGCACCCATCACCCCCGGCGGGTGTCCCTACCTACGGCGCACAACCCAGCTTCCTGTCCACCCACCGCGCGTCCCCGTGCCCCCACCCACGGTCATGTCGCGCGCCCCGCAGGCGGCTGCACTGCACGCGCAACTACATCCACATGCACCTGTTCCTGTCCTTCATGCTGCGCGCCGTGAGCATCTTCGTCAAGGACGCTGTGCTCTACTCTGGCGCCACGCTTGATGAGGCTGAGCGCCTCACCGAGGAGGAGCTGCGCGCCATCGCCCAGGCGCCCCCGCCGCCTGCCACCGCCGCTGCCGGCTACGTGAGTACCCCTCTGCCCGCCCGCTCCCGGTGCCGCCACTGGCCTCGTGGGGCCCCGCCCCGCCCCGCTCCAGCCCGGCCCTCGCCCTGCCCGCCTCCTGCCAGCGCCACTGGCTTCAGCCACTCAAACCCGTCTTATAGGGTCCCTCGCAACCCTCAGCTCTGCCGCCGACCCTGCTGCCAAGGGCTCCGAGTGTCCCACACGCCCCGCGCTGCCATCAAGGCTCCTACCTCAACCCAGTACCCTCTAGCCACTCTACCTCTTCACTTTGCCTCCTGCCCCTGACACCGCATCCCCCTGAGAGAGCCCCCCAAACGAAGCCTGCCCCTTCCTGGCCTGTTTGGCCGGCACCACTTGTCCTCTCCTGCCGCCCCAGCCCCCCAGCCCAGCCCTGACTTCCCGGAGGCAGGCCCTGCCCTCTGACTAACACCAGCTGGTCTCTTAGGCGGGCTGCAGGGTGGCTGTGACCTTCTTCCTTTACTTCCTGGCCACCAACTACTACTGGATTCTGGTGGAGGGGCTGTACCTGCACAGCCTCATCTTCATGGCCTTCTTCTCAGAGAAGAAGTACCTGTGGGGCTTCACAGTCTTCGGCTGGGGTACGCGGGCACAGCGGGTAGCGAGGTGCCGGCAGGGGTGGGACCGTGGGTGACAGGGAGAGGGCAGCCCCTGGGGGGAGGCGCCCACACAGCACATCCCGCCCCAAGTGGAACAGCAGGAGAGAGGCCTGCCGCCCTTCTGTGATCCTGACCCTATTCCAGGCTCAGGAAACAGCAGGGCTTGGCCAGGGATCAGGTTCACCTGAGGTTAGATTCACCTGAATTGAGGCTCGGCCCAGGAGAGGGAAAGGAGGAACCATCAGGCCAAGATTCAGCTCAGGATCAGAGTAGGATACTGGGTCAGAGGTCAGCCTGGGGCTGGAATTGGGATCCGGGACCCTCCCTCTACCCTGAGCCCCATGGACTAGGCCAGCATCTATTACCCCACCAGTCCCCTTGCTGGGATGGGGCGCGGGGCTGCCCACACCATTGCCAGCCTCAGCAGGCCTGCGGGGTCCATGGCCCAGAGCCGTGGGCCCAGCACCTCAGCATCACCTGAGCTTCACAGCACCTCTGCAGAATGGGTT
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GCATCCAGCTGGCATGGGCTTGGATCCACCCACCCCCATTGCACTGTCCCTCTGATGTGAGCTCATGCTTCTTGGCTCTTATAGAAAGTAAAAGGCTGCAGCCACATCCCCAGGCAAGGGGCTGGGAGAAGACAGAGTGTAGTGGGAAGGAAGGGGAGCTAGATGGCTCAGGCCTCAGAAAGAGATGAACAGAGAACTCTCCAGCACCACACCAAGAGTGGACCCAGGGCTACGGTCCCACCCATGGAGAGAAAGAGAGATGACAGAGAACCCTGGGGGACAGAGAGGCAGGGAGAGATACACAAAGACAGACAGATAGTGACAGAGAAAGACGGGGAGAGGCATGGAGACAGAGATCAACAGAGGCAGGGAGAGACAGTCACAGAGATAGAGGGGACCAGGAGGCACACACTGAAGTCTGGGCTCAGTGTGTCAGAGGAGGTACATGGGGACACATAGTGGATAGGGCCACAGAAATAGAGAAGGAGAGGAGGGCAGTGGCAGAGGGTGGGGCCAGAGGCAGTGGGACAAGGAGGGGAGAAGAGAAGGGAGGGAAGCAGATGAGGAAAGGCAGACAGAGCCCAGGCTTTGGCCACAGGGCCGGTTTCAGCCGGCCGGGTGGGCAGCAGATTCCAGATGGGCCACATCTGGGAGGCTGTGGTCACCCTGTGGCTCCCTGGGGACCAGAGGGAATTGTGGGCCTGGCTGGGTGGGGCTGGGAATATGGCGCCCAGGACAGAGAGCCTTTCACCAAGCCAGGGCGGGTCCAGCCATCAAGGCAGCCTTCCAGGGTGGCTGGAGAGTCCTGTGGTTGGAGCCCTACAGAGGGAGAGAAGGGGGCTGCAAGCTGGGAGTGGAATGTGGAAGATACAGAGGCTGGGGACCCTCCAAGGTCACTTAGCCTCCCTGCAGTGAGGCTGGGGCTCCAAAGTGGGATGTCACCCTACTTTGAATCCCACCATTAGCACTTAGATTTGGGGAATCGATCTCCCCCAGCAGTGGCCGTGGGAGTCTCACAGCAGGTACTCAGGGCAGGCATTGAGTGGTGGTAGAAGCATGGGCCAATGTGGTTAATCCCAACTTCCCAATGAGGAAATGGAAATAGAAAGACTTGGGACACCTGCGTGAGGTCAGCAGCTCCTTGGAGTCCAGCTGGCACTAGAAACCAGACCTCCTGCCTCCTGTCCATGATCCCAGGGGAAGGGGCACACAGGGAGCCTCCCAGCTGAGGGAGAGTTAGTCTGGGTACTTGCCCTTCTTCAGAGACACCTGGAAGGTGGTTCCAAGAGCAGAGAGAAAGGCGAGAGGCCTGGCCTGGGGCTGAGCACTTGAAGAGGACAGGGCCCTGTGTTGTATGACCTCAGCAAGTTGCCTACCTCTCTTGGCCTCTGTCAGCCCATCTGGAAAATGGGGCCAGTGCCAGTACCTGTATCGCAGAGGCCATAGTAAATTCTATGAGGTGGGTACAGCCCACAGAAATACATTTTCTCCAGAGTGCTCCAAAGCCTGAATTTTCCTGCTTGGGGCACACCTGTCCCTGCAGGAACCAACAACCACTGATGGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCATTGCCCTCCAGCCTGAGCAACAAAAGCGAAACTCCGTCTCAAAAAAACAAAACAAAACAAAAACAAAAACAAACAAACCACAGATGTATTCATCCTTCTGGGTCACTAATCATGGCCTTGACTCTCCCTTGGTATCCCCTACCCTGTCTGTCTCTGGGCACAGGGCGCCCCTGTCTGCCGGAATGGGACCACATCCTGTGCTGGCCGCTGGGGGCACCAGGTGAGGTGGTGGCTGTGCCCTGTCTGGACTACATTTATGACTTCAATCACAAAGGTGAGGCCTGCTGGAAGGGGTGGGGATTACAAGGAGGCTGAGACTTGGAGCTAGGGGTTCAGTGCCTCGAGACCTCCCTGCCGGCCCTGACCTCCCATGGACCTGCAGGCCATGCCTACCGACGCTGTGACCGCAATGGCAGCTGGGAGCTGGTGCCTGGGCACAACAGGACGTGGGCCAACTACAGCGAGTGTGTCAAATTTCTCACCAATGAGACTCGTGAACGGGTGCGAGCCTTTCTCCTCCCCAACCTGACCAGGATAAATTCACTCCCACCCCACGGGTGACCCCTGACCCAGCCCTGACCCCTGACCTTGACTCCTCCAGCAACCTTACCCTGGCCTCTTGCTCTTACCCTGATGCTCTCCCTGGGTCCCAGGGCTCTGACTGTGTCTCCCCCCGCCCCGCACAGGAGGTGTTTGACCGCCTGGGCATGATTTACACCGTGGGCTACTCCGTGTCCCTGGCGTCCCTCACCGTAGCTGTGCTCATCCTGGCCTACTTTAGGTGGGCGGGGCGGGGCGAGAGGCGGCGGGACATGGTGGAGGGGGGGCGGTGGCCGAGGTCTGATGCGACCCCCTCCCTGCACCCATCACCCCCGGCGGGTGTCCCTACCTACGGCGCACAACCCAGCTTCCTGTCCACCCACCGCGCGTCCCCGTGCCCCCACCCACGGTCATGTCGCGCGCCCCGCAGGCGGCTGCACTGCACGCGCAACTACATCCACATGCACCTGTTCCTGTCCTTCATGCTGCGCGCCGTGAGCATCTTCGTCAAGGACGCTGTGCTCTACTCTGGCGCCACGCTTGATGAGGCTGAGCGCCTCACCGAGGAGGAGCTGCGCGCCATCGCCCAGGCGCCCCCGCCGCCTGCCACCGCCGCTGCCGGCTACGTGAGTACCCCTCTGCCCGCCCGCTCCCGGTGCCGCCACTGGCCTCGTGGGGCCCCGCCCCGCCCCGCTCCAGCCCGGCCCTCGCCCTGCCCGCCTCCTGCCAGCGCCACTGGCTTCAGCCACTCAAACCCGTCTTATAGGGTCCCTCGCAACCCTCAGCTCTGCCGCCGACCCTGCTGCCAAGGGCTCCGAGTGTCCCACACGCCCCGCGCTGCCATCAAGGCTCCTACCTCAACCCAGTACCCTCTAGCCACTCTACCTCTTCACTTTGCCTCCTGCCCCTGACACCGCATCCCCCTGAGAGAGCCCCCCAAACGAAGCCTGCCCCTTCCTGGCCTGTTTGGCCGGCACCACTTGTCCTCTCCTGCCGCCCCAGCCCCCCAGCCCAGCCCTGACTTCCCGGAGGCAGGCCCTGCCCTCTGACTAACACCAGCTGGTCTCTTAGGCGGGCTGCAGGGTGGCTGTGACCTTCTTCCTTTACTTCCTGGCCACCAACTACTACTGGATTCTGGTGGAGGGGCTGTACCTGCACAGCCTCATCTTCATGGCCTTCTTCTCAGAGAAGAAGTACCTGTGGGGCTTCACAGTCTTCGGCTGGGGTACGCGGGCACAGCGGGTAGCGAGGTGCCGGCAGGGGTGGGACCGTGGGTGACAGGGAGAGGGCAGCCCCTGGGGGGAGGCGCCCACACAGCACATCCCGCCCCAAGTGGAACAGCAGGAGAGAGGCCTGCCGCCCTTCTGTGATCCTGACCCTATTCCAGGCTCAGGAAACAGCAGGGCTTGGCCAGGGATCAGGTTCACCTGAGGTTAGATTCACCTGAATTGAGGCTCGGCCCAGGAGAGGGAAAGGAGGAACCATCAGGCCAAGATTCAGCTCAGGATCAGAGTAGGATACTGGGTCAGAGGTCAGCCTGGGGCTGGAATTGGGATCCGGGACCCTCCCTCTACCCTGAGCCCCATGGACTAGGCCAGCATCTATTACCCCACCAGTCCCCTTGCTGGGATGGGGCGCGGGGCTGCCCACACCATTGCCAGCCTCAGCAGGCCTGCGGGGTCCATGGCCCAGAGCCGTGGGCCCAGCACCTCAGCATCACCTGAGCTTCACAGCACCTCTGCAGAATGGGTT
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Task1_train_6711
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A mutation in LOC129936652, PTH1R (ATAC-STARR-seq lymphoblastoid silent region 14297| parathyroid hormone 1 receptor), located on Chromosome 3, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Primary failure of tooth eruption
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GCATCCAGCTGGCATGGGCTTGGATCCACCCACCCCCATTGCACTGTCCCTCTGATGTGAGCTCATGCTTCTTGGCTCTTATAGAAAGTAAAAGGCTGCAGCCACATCCCCAGGCAAGGGGCTGGGAGAAGACAGAGTGTAGTGGGAAGGAAGGGGAGCTAGATGGCTCAGGCCTCAGAAAGAGATGAACAGAGAACTCTCCAGCACCACACCAAGAGTGGACCCAGGGCTACGGTCCCACCCATGGAGAGAAAGAGAGATGACAGAGAACCCTGGGGGACAGAGAGGCAGGGAGAGATACACAAAGACAGACAGATAGTGACAGAGAAAGACGGGGAGAGGCATGGAGACAGAGATCAACAGAGGCAGGGAGAGACAGTCACAGAGATAGAGGGGACCAGGAGGCACACACTGAAGTCTGGGCTCAGTGTGTCAGAGGAGGTACATGGGGACACATAGTGGATAGGGCCACAGAAATAGAGAAGGAGAGGAGGGCAGTGGCAGAGGGTGGGGCCAGAGGCAGTGGGACAAGGAGGGGAGAAGAGAAGGGAGGGAAGCAGATGAGGAAAGGCAGACAGAGCCCAGGCTTTGGCCACAGGGCCGGTTTCAGCCGGCCGGGTGGGCAGCAGATTCCAGATGGGCCACATCTGGGAGGCTGTGGTCACCCTGTGGCTCCCTGGGGACCAGAGGGAATTGTGGGCCTGGCTGGGTGGGGCTGGGAATATGGCGCCCAGGACAGAGAGCCTTTCACCAAGCCAGGGCGGGTCCAGCCATCAAGGCAGCCTTCCAGGGTGGCTGGAGAGTCCTGTGGTTGGAGCCCTACAGAGGGAGAGAAGGGGGCTGCAAGCTGGGAGTGGAATGTGGAAGATACAGAGGCTGGGGACCCTCCAAGGTCACTTAGCCTCCCTGCAGTGAGGCTGGGGCTCCAAAGTGGGATGTCACCCTACTTTGAATCCCACCATTAGCACTTAGATTTGGGGAATCGATCTCCCCCAGCAGTGGCCGTGGGAGTCTCACAGCAGGTACTCAGGGCAGGCATTGAGTGGTGGTAGAAGCATGGGCCAATGTGGTTAATCCCAACTTCCCAATGAGGAAATGGAAATAGAAAGACTTGGGACACCTGCGTGAGGTCAGCAGCTCCTTGGAGTCCAGCTGGCACTAGAAACCAGACCTCCTGCCTCCTGTCCATGATCCCAGGGGAAGGGGCACACAGGGAGCCTCCCAGCTGAGGGAGAGTTAGTCTGGGTACTTGCCCTTCTTCAGAGACACCTGGAAGGTGGTTCCAAGAGCAGAGAGAAAGGCGAGAGGCCTGGCCTGGGGCTGAGCACTTGAAGAGGACAGGGCCCTGTGTTGTATGACCTCAGCAAGTTGCCTACCTCTCTTGGCCTCTGTCAGCCCATCTGGAAAATGGGGCCAGTGCCAGTACCTGTATCGCAGAGGCCATAGTAAATTCTATGAGGTGGGTACAGCCCACAGAAATACATTTTCTCCAGAGTGCTCCAAAGCCTGAATTTTCCTGCTTGGGGCACACCTGTCCCTGCAGGAACCAACAACCACTGATGGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCATTGCCCTCCAGCCTGAGCAACAAAAGCGAAACTCCGTCTCAAAAAAACAAAACAAAACAAAAACAAAAACAAACAAACCACAGATGTATTCATCCTTCTGGGTCACTAATCATGGCCTTGACTCTCCCTTGGTATCCCCTACCCTGTCTGTCTCTGGGCACAGGGCGCCCCTGTCTGCCGGAATGGGACCACATCCTGTGCTGGCCGCTGGGGGCACCAGGTGAGGTGGTGGCTGTGCCCTGTCCGGACTACATTTATGACTTCAATCACAAAGGTGAGGCCTGCTGGAAGGGGTGGGGATTACAAGGAGGCTGAGACTTGGAGCTAGGGGTTCAGTGCCTCGAGACCTCCCTGCCGGCCCTGACCTCCCATGGACCTGCAGGCCATGCCTACCGACGCTGTGACCGCAATGGCAGCTGGGAGCTGGTGCCTGGGCACAACAGGACGTGGGCCAACTACAGCGAGTGTGTCAAATTTCTCACCAATGAGACTCGTGAACGGGTGCGAGCCTTTCTCCTCCCCAACCTGACCAGGATAAATTCACTCCCACCCCACGGGTGACCCCTGACCCAGCCCTGACCCCTGACCTTGACTCCTCCAGCAACCTTACCCTGGCCTCTTGCTCTTACCCTGATGCTCTCCCTGGGTCCCAGGGCTCTGACTGTGTCTCCCCCCGCCCCGCACAGGAGGTGTTTGACCGCCTGGGCATGATTTACACCGTGGGCTACTCCGTGTCCCTGGCGTCCCTCACCGTAGCTGTGCTCATCCTGGCCTACTTTAGGTGGGCGGGGCGGGGCGAGAGGCGGCGGGACATGGTGGAGGGGGGGCGGTGGCCGAGGTCTGATGCGACCCCCTCCCTGCACCCATCACCCCCGGCGGGTGTCCCTACCTACGGCGCACAACCCAGCTTCCTGTCCACCCACCGCGCGTCCCCGTGCCCCCACCCACGGTCATGTCGCGCGCCCCGCAGGCGGCTGCACTGCACGCGCAACTACATCCACATGCACCTGTTCCTGTCCTTCATGCTGCGCGCCGTGAGCATCTTCGTCAAGGACGCTGTGCTCTACTCTGGCGCCACGCTTGATGAGGCTGAGCGCCTCACCGAGGAGGAGCTGCGCGCCATCGCCCAGGCGCCCCCGCCGCCTGCCACCGCCGCTGCCGGCTACGTGAGTACCCCTCTGCCCGCCCGCTCCCGGTGCCGCCACTGGCCTCGTGGGGCCCCGCCCCGCCCCGCTCCAGCCCGGCCCTCGCCCTGCCCGCCTCCTGCCAGCGCCACTGGCTTCAGCCACTCAAACCCGTCTTATAGGGTCCCTCGCAACCCTCAGCTCTGCCGCCGACCCTGCTGCCAAGGGCTCCGAGTGTCCCACACGCCCCGCGCTGCCATCAAGGCTCCTACCTCAACCCAGTACCCTCTAGCCACTCTACCTCTTCACTTTGCCTCCTGCCCCTGACACCGCATCCCCCTGAGAGAGCCCCCCAAACGAAGCCTGCCCCTTCCTGGCCTGTTTGGCCGGCACCACTTGTCCTCTCCTGCCGCCCCAGCCCCCCAGCCCAGCCCTGACTTCCCGGAGGCAGGCCCTGCCCTCTGACTAACACCAGCTGGTCTCTTAGGCGGGCTGCAGGGTGGCTGTGACCTTCTTCCTTTACTTCCTGGCCACCAACTACTACTGGATTCTGGTGGAGGGGCTGTACCTGCACAGCCTCATCTTCATGGCCTTCTTCTCAGAGAAGAAGTACCTGTGGGGCTTCACAGTCTTCGGCTGGGGTACGCGGGCACAGCGGGTAGCGAGGTGCCGGCAGGGGTGGGACCGTGGGTGACAGGGAGAGGGCAGCCCCTGGGGGGAGGCGCCCACACAGCACATCCCGCCCCAAGTGGAACAGCAGGAGAGAGGCCTGCCGCCCTTCTGTGATCCTGACCCTATTCCAGGCTCAGGAAACAGCAGGGCTTGGCCAGGGATCAGGTTCACCTGAGGTTAGATTCACCTGAATTGAGGCTCGGCCCAGGAGAGGGAAAGGAGGAACCATCAGGCCAAGATTCAGCTCAGGATCAGAGTAGGATACTGGGTCAGAGGTCAGCCTGGGGCTGGAATTGGGATCCGGGACCCTCCCTCTACCCTGAGCCCCATGGACTAGGCCAGCATCTATTACCCCACCAGTCCCCTTGCTGGGATGGGGCGCGGGGCTGCCCACACCATTGCCAGCCTCAGCAGGCCTGCGGGGTCCATGGCCCAGAGCCGTGGGCCCAGCACCTCAGCATCACCTGAGCTTCACAGCACCTCTGCAGAATGGGTT
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GCATCCAGCTGGCATGGGCTTGGATCCACCCACCCCCATTGCACTGTCCCTCTGATGTGAGCTCATGCTTCTTGGCTCTTATAGAAAGTAAAAGGCTGCAGCCACATCCCCAGGCAAGGGGCTGGGAGAAGACAGAGTGTAGTGGGAAGGAAGGGGAGCTAGATGGCTCAGGCCTCAGAAAGAGATGAACAGAGAACTCTCCAGCACCACACCAAGAGTGGACCCAGGGCTACGGTCCCACCCATGGAGAGAAAGAGAGATGACAGAGAACCCTGGGGGACAGAGAGGCAGGGAGAGATACACAAAGACAGACAGATAGTGACAGAGAAAGACGGGGAGAGGCATGGAGACAGAGATCAACAGAGGCAGGGAGAGACAGTCACAGAGATAGAGGGGACCAGGAGGCACACACTGAAGTCTGGGCTCAGTGTGTCAGAGGAGGTACATGGGGACACATAGTGGATAGGGCCACAGAAATAGAGAAGGAGAGGAGGGCAGTGGCAGAGGGTGGGGCCAGAGGCAGTGGGACAAGGAGGGGAGAAGAGAAGGGAGGGAAGCAGATGAGGAAAGGCAGACAGAGCCCAGGCTTTGGCCACAGGGCCGGTTTCAGCCGGCCGGGTGGGCAGCAGATTCCAGATGGGCCACATCTGGGAGGCTGTGGTCACCCTGTGGCTCCCTGGGGACCAGAGGGAATTGTGGGCCTGGCTGGGTGGGGCTGGGAATATGGCGCCCAGGACAGAGAGCCTTTCACCAAGCCAGGGCGGGTCCAGCCATCAAGGCAGCCTTCCAGGGTGGCTGGAGAGTCCTGTGGTTGGAGCCCTACAGAGGGAGAGAAGGGGGCTGCAAGCTGGGAGTGGAATGTGGAAGATACAGAGGCTGGGGACCCTCCAAGGTCACTTAGCCTCCCTGCAGTGAGGCTGGGGCTCCAAAGTGGGATGTCACCCTACTTTGAATCCCACCATTAGCACTTAGATTTGGGGAATCGATCTCCCCCAGCAGTGGCCGTGGGAGTCTCACAGCAGGTACTCAGGGCAGGCATTGAGTGGTGGTAGAAGCATGGGCCAATGTGGTTAATCCCAACTTCCCAATGAGGAAATGGAAATAGAAAGACTTGGGACACCTGCGTGAGGTCAGCAGCTCCTTGGAGTCCAGCTGGCACTAGAAACCAGACCTCCTGCCTCCTGTCCATGATCCCAGGGGAAGGGGCACACAGGGAGCCTCCCAGCTGAGGGAGAGTTAGTCTGGGTACTTGCCCTTCTTCAGAGACACCTGGAAGGTGGTTCCAAGAGCAGAGAGAAAGGCGAGAGGCCTGGCCTGGGGCTGAGCACTTGAAGAGGACAGGGCCCTGTGTTGTATGACCTCAGCAAGTTGCCTACCTCTCTTGGCCTCTGTCAGCCCATCTGGAAAATGGGGCCAGTGCCAGTACCTGTATCGCAGAGGCCATAGTAAATTCTATGAGGTGGGTACAGCCCACAGAAATACATTTTCTCCAGAGTGCTCCAAAGCCTGAATTTTCCTGCTTGGGGCACACCTGTCCCTGCAGGAACCAACAACCACTGATGGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCATTGCCCTCCAGCCTGAGCAACAAAAGCGAAACTCCGTCTCAAAAAAACAAAACAAAACAAAAACAAAAACAAACAAACCACAGATGTATTCATCCTTCTGGGTCACTAATCATGGCCTTGACTCTCCCTTGGTATCCCCTACCCTGTCTGTCTCTGGGCACAGGGCGCCCCTGTCTGCCGGAATGGGACCACATCCTGTGCTGGCCGCTGGGGGCACCAGGTGAGGTGGTGGCTGTGCCCTGTCTGGACTACATTTATGACTTCAATCACAAAGGTGAGGCCTGCTGGAAGGGGTGGGGATTACAAGGAGGCTGAGACTTGGAGCTAGGGGTTCAGTGCCTCGAGACCTCCCTGCCGGCCCTGACCTCCCATGGACCTGCAGGCCATGCCTACCGACGCTGTGACCGCAATGGCAGCTGGGAGCTGGTGCCTGGGCACAACAGGACGTGGGCCAACTACAGCGAGTGTGTCAAATTTCTCACCAATGAGACTCGTGAACGGGTGCGAGCCTTTCTCCTCCCCAACCTGACCAGGATAAATTCACTCCCACCCCACGGGTGACCCCTGACCCAGCCCTGACCCCTGACCTTGACTCCTCCAGCAACCTTACCCTGGCCTCTTGCTCTTACCCTGATGCTCTCCCTGGGTCCCAGGGCTCTGACTGTGTCTCCCCCCGCCCCGCACAGGAGGTGTTTGACCGCCTGGGCATGATTTACACCGTGGGCTACTCCGTGTCCCTGGCGTCCCTCACCGTAGCTGTGCTCATCCTGGCCTACTTTAGGTGGGCGGGGCGGGGCGAGAGGCGGCGGGACATGGTGGAGGGGGGGCGGTGGCCGAGGTCTGATGCGACCCCCTCCCTGCACCCATCACCCCCGGCGGGTGTCCCTACCTACGGCGCACAACCCAGCTTCCTGTCCACCCACCGCGCGTCCCCGTGCCCCCACCCACGGTCATGTCGCGCGCCCCGCAGGCGGCTGCACTGCACGCGCAACTACATCCACATGCACCTGTTCCTGTCCTTCATGCTGCGCGCCGTGAGCATCTTCGTCAAGGACGCTGTGCTCTACTCTGGCGCCACGCTTGATGAGGCTGAGCGCCTCACCGAGGAGGAGCTGCGCGCCATCGCCCAGGCGCCCCCGCCGCCTGCCACCGCCGCTGCCGGCTACGTGAGTACCCCTCTGCCCGCCCGCTCCCGGTGCCGCCACTGGCCTCGTGGGGCCCCGCCCCGCCCCGCTCCAGCCCGGCCCTCGCCCTGCCCGCCTCCTGCCAGCGCCACTGGCTTCAGCCACTCAAACCCGTCTTATAGGGTCCCTCGCAACCCTCAGCTCTGCCGCCGACCCTGCTGCCAAGGGCTCCGAGTGTCCCACACGCCCCGCGCTGCCATCAAGGCTCCTACCTCAACCCAGTACCCTCTAGCCACTCTACCTCTTCACTTTGCCTCCTGCCCCTGACACCGCATCCCCCTGAGAGAGCCCCCCAAACGAAGCCTGCCCCTTCCTGGCCTGTTTGGCCGGCACCACTTGTCCTCTCCTGCCGCCCCAGCCCCCCAGCCCAGCCCTGACTTCCCGGAGGCAGGCCCTGCCCTCTGACTAACACCAGCTGGTCTCTTAGGCGGGCTGCAGGGTGGCTGTGACCTTCTTCCTTTACTTCCTGGCCACCAACTACTACTGGATTCTGGTGGAGGGGCTGTACCTGCACAGCCTCATCTTCATGGCCTTCTTCTCAGAGAAGAAGTACCTGTGGGGCTTCACAGTCTTCGGCTGGGGTACGCGGGCACAGCGGGTAGCGAGGTGCCGGCAGGGGTGGGACCGTGGGTGACAGGGAGAGGGCAGCCCCTGGGGGGAGGCGCCCACACAGCACATCCCGCCCCAAGTGGAACAGCAGGAGAGAGGCCTGCCGCCCTTCTGTGATCCTGACCCTATTCCAGGCTCAGGAAACAGCAGGGCTTGGCCAGGGATCAGGTTCACCTGAGGTTAGATTCACCTGAATTGAGGCTCGGCCCAGGAGAGGGAAAGGAGGAACCATCAGGCCAAGATTCAGCTCAGGATCAGAGTAGGATACTGGGTCAGAGGTCAGCCTGGGGCTGGAATTGGGATCCGGGACCCTCCCTCTACCCTGAGCCCCATGGACTAGGCCAGCATCTATTACCCCACCAGTCCCCTTGCTGGGATGGGGCGCGGGGCTGCCCACACCATTGCCAGCCTCAGCAGGCCTGCGGGGTCCATGGCCCAGAGCCGTGGGCCCAGCACCTCAGCATCACCTGAGCTTCACAGCACCTCTGCAGAATGGGTT
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Task1_train_6712
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Gene PTH1R (parathyroid hormone 1 receptor) on Chromosome 3 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Metaphyseal chondrodysplasia, Jansen type
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GGGGCCAGAGGCAGTGGGACAAGGAGGGGAGAAGAGAAGGGAGGGAAGCAGATGAGGAAAGGCAGACAGAGCCCAGGCTTTGGCCACAGGGCCGGTTTCAGCCGGCCGGGTGGGCAGCAGATTCCAGATGGGCCACATCTGGGAGGCTGTGGTCACCCTGTGGCTCCCTGGGGACCAGAGGGAATTGTGGGCCTGGCTGGGTGGGGCTGGGAATATGGCGCCCAGGACAGAGAGCCTTTCACCAAGCCAGGGCGGGTCCAGCCATCAAGGCAGCCTTCCAGGGTGGCTGGAGAGTCCTGTGGTTGGAGCCCTACAGAGGGAGAGAAGGGGGCTGCAAGCTGGGAGTGGAATGTGGAAGATACAGAGGCTGGGGACCCTCCAAGGTCACTTAGCCTCCCTGCAGTGAGGCTGGGGCTCCAAAGTGGGATGTCACCCTACTTTGAATCCCACCATTAGCACTTAGATTTGGGGAATCGATCTCCCCCAGCAGTGGCCGTGGGAGTCTCACAGCAGGTACTCAGGGCAGGCATTGAGTGGTGGTAGAAGCATGGGCCAATGTGGTTAATCCCAACTTCCCAATGAGGAAATGGAAATAGAAAGACTTGGGACACCTGCGTGAGGTCAGCAGCTCCTTGGAGTCCAGCTGGCACTAGAAACCAGACCTCCTGCCTCCTGTCCATGATCCCAGGGGAAGGGGCACACAGGGAGCCTCCCAGCTGAGGGAGAGTTAGTCTGGGTACTTGCCCTTCTTCAGAGACACCTGGAAGGTGGTTCCAAGAGCAGAGAGAAAGGCGAGAGGCCTGGCCTGGGGCTGAGCACTTGAAGAGGACAGGGCCCTGTGTTGTATGACCTCAGCAAGTTGCCTACCTCTCTTGGCCTCTGTCAGCCCATCTGGAAAATGGGGCCAGTGCCAGTACCTGTATCGCAGAGGCCATAGTAAATTCTATGAGGTGGGTACAGCCCACAGAAATACATTTTCTCCAGAGTGCTCCAAAGCCTGAATTTTCCTGCTTGGGGCACACCTGTCCCTGCAGGAACCAACAACCACTGATGGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCATTGCCCTCCAGCCTGAGCAACAAAAGCGAAACTCCGTCTCAAAAAAACAAAACAAAACAAAAACAAAAACAAACAAACCACAGATGTATTCATCCTTCTGGGTCACTAATCATGGCCTTGACTCTCCCTTGGTATCCCCTACCCTGTCTGTCTCTGGGCACAGGGCGCCCCTGTCTGCCGGAATGGGACCACATCCTGTGCTGGCCGCTGGGGGCACCAGGTGAGGTGGTGGCTGTGCCCTGTCCGGACTACATTTATGACTTCAATCACAAAGGTGAGGCCTGCTGGAAGGGGTGGGGATTACAAGGAGGCTGAGACTTGGAGCTAGGGGTTCAGTGCCTCGAGACCTCCCTGCCGGCCCTGACCTCCCATGGACCTGCAGGCCATGCCTACCGACGCTGTGACCGCAATGGCAGCTGGGAGCTGGTGCCTGGGCACAACAGGACGTGGGCCAACTACAGCGAGTGTGTCAAATTTCTCACCAATGAGACTCGTGAACGGGTGCGAGCCTTTCTCCTCCCCAACCTGACCAGGATAAATTCACTCCCACCCCACGGGTGACCCCTGACCCAGCCCTGACCCCTGACCTTGACTCCTCCAGCAACCTTACCCTGGCCTCTTGCTCTTACCCTGATGCTCTCCCTGGGTCCCAGGGCTCTGACTGTGTCTCCCCCCGCCCCGCACAGGAGGTGTTTGACCGCCTGGGCATGATTTACACCGTGGGCTACTCCGTGTCCCTGGCGTCCCTCACCGTAGCTGTGCTCATCCTGGCCTACTTTAGGTGGGCGGGGCGGGGCGAGAGGCGGCGGGACATGGTGGAGGGGGGGCGGTGGCCGAGGTCTGATGCGACCCCCTCCCTGCACCCATCACCCCCGGCGGGTGTCCCTACCTACGGCGCACAACCCAGCTTCCTGTCCACCCACCGCGCGTCCCCGTGCCCCCACCCACGGTCATGTCGCGCGCCCCGCAGGCGGCTGCACTGCACGCGCAACTACATCCACATGCACCTGTTCCTGTCCTTCATGCTGCGCGCCGTGAGCATCTTCGTCAAGGACGCTGTGCTCTACTCTGGCGCCACGCTTGATGAGGCTGAGCGCCTCACCGAGGAGGAGCTGCGCGCCATCGCCCAGGCGCCCCCGCCGCCTGCCACCGCCGCTGCCGGCTACGTGAGTACCCCTCTGCCCGCCCGCTCCCGGTGCCGCCACTGGCCTCGTGGGGCCCCGCCCCGCCCCGCTCCAGCCCGGCCCTCGCCCTGCCCGCCTCCTGCCAGCGCCACTGGCTTCAGCCACTCAAACCCGTCTTATAGGGTCCCTCGCAACCCTCAGCTCTGCCGCCGACCCTGCTGCCAAGGGCTCCGAGTGTCCCACACGCCCCGCGCTGCCATCAAGGCTCCTACCTCAACCCAGTACCCTCTAGCCACTCTACCTCTTCACTTTGCCTCCTGCCCCTGACACCGCATCCCCCTGAGAGAGCCCCCCAAACGAAGCCTGCCCCTTCCTGGCCTGTTTGGCCGGCACCACTTGTCCTCTCCTGCCGCCCCAGCCCCCCAGCCCAGCCCTGACTTCCCGGAGGCAGGCCCTGCCCTCTGACTAACACCAGCTGGTCTCTTAGGCGGGCTGCAGGGTGGCTGTGACCTTCTTCCTTTACTTCCTGGCCACCAACTACTACTGGATTCTGGTGGAGGGGCTGTACCTGCACAGCCTCATCTTCATGGCCTTCTTCTCAGAGAAGAAGTACCTGTGGGGCTTCACAGTCTTCGGCTGGGGTACGCGGGCACAGCGGGTAGCGAGGTGCCGGCAGGGGTGGGACCGTGGGTGACAGGGAGAGGGCAGCCCCTGGGGGGAGGCGCCCACACAGCACATCCCGCCCCAAGTGGAACAGCAGGAGAGAGGCCTGCCGCCCTTCTGTGATCCTGACCCTATTCCAGGCTCAGGAAACAGCAGGGCTTGGCCAGGGATCAGGTTCACCTGAGGTTAGATTCACCTGAATTGAGGCTCGGCCCAGGAGAGGGAAAGGAGGAACCATCAGGCCAAGATTCAGCTCAGGATCAGAGTAGGATACTGGGTCAGAGGTCAGCCTGGGGCTGGAATTGGGATCCGGGACCCTCCCTCTACCCTGAGCCCCATGGACTAGGCCAGCATCTATTACCCCACCAGTCCCCTTGCTGGGATGGGGCGCGGGGCTGCCCACACCATTGCCAGCCTCAGCAGGCCTGCGGGGTCCATGGCCCAGAGCCGTGGGCCCAGCACCTCAGCATCACCTGAGCTTCACAGCACCTCTGCAGAATGGGTTGCTGGAGCTGCGCACTCCTCCCAGCCCCCCACAGGCTCTGGGATCCAGTTACCGATAATTGTCCATTATTGTTGGCAGCTGCAGAGCTTGGCTGGGCTCCGGGACAACTGGCCAGACTGCAGAGGGGTGGGCCGGGTGGCTGGAGCCCTCTCTGCACTCAGCACCCAGAGGCCCACAGGTCAACAGCCACCGCCTCCCTGCCCCTCGACATACATCCTGACCCTGACCTCACCATGACAAGCCCCAGAGTTGGGGAGACCTGGGCCCAGTCCCAGGAACAGATGCAGGCTCTGGGGCTAGGAGGTGTCCTAGTGGACTGGCGACATGCAGATTGGGAGTGCATAGAATCCTGGGGCACAGGAATGTCACAGCTCTTTTTCTTACCGTAAAGCCAGGTCATACCCTATCCCTCCAAGGGTGTACCAGGCCTAGAGTCAAGTTGGTGGTATGTGGTCGGGGAGGACCTGGGGCTCCCTTCCCAGAGGCACAGCTCACCCAAATATACCATG
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GGGGCCAGAGGCAGTGGGACAAGGAGGGGAGAAGAGAAGGGAGGGAAGCAGATGAGGAAAGGCAGACAGAGCCCAGGCTTTGGCCACAGGGCCGGTTTCAGCCGGCCGGGTGGGCAGCAGATTCCAGATGGGCCACATCTGGGAGGCTGTGGTCACCCTGTGGCTCCCTGGGGACCAGAGGGAATTGTGGGCCTGGCTGGGTGGGGCTGGGAATATGGCGCCCAGGACAGAGAGCCTTTCACCAAGCCAGGGCGGGTCCAGCCATCAAGGCAGCCTTCCAGGGTGGCTGGAGAGTCCTGTGGTTGGAGCCCTACAGAGGGAGAGAAGGGGGCTGCAAGCTGGGAGTGGAATGTGGAAGATACAGAGGCTGGGGACCCTCCAAGGTCACTTAGCCTCCCTGCAGTGAGGCTGGGGCTCCAAAGTGGGATGTCACCCTACTTTGAATCCCACCATTAGCACTTAGATTTGGGGAATCGATCTCCCCCAGCAGTGGCCGTGGGAGTCTCACAGCAGGTACTCAGGGCAGGCATTGAGTGGTGGTAGAAGCATGGGCCAATGTGGTTAATCCCAACTTCCCAATGAGGAAATGGAAATAGAAAGACTTGGGACACCTGCGTGAGGTCAGCAGCTCCTTGGAGTCCAGCTGGCACTAGAAACCAGACCTCCTGCCTCCTGTCCATGATCCCAGGGGAAGGGGCACACAGGGAGCCTCCCAGCTGAGGGAGAGTTAGTCTGGGTACTTGCCCTTCTTCAGAGACACCTGGAAGGTGGTTCCAAGAGCAGAGAGAAAGGCGAGAGGCCTGGCCTGGGGCTGAGCACTTGAAGAGGACAGGGCCCTGTGTTGTATGACCTCAGCAAGTTGCCTACCTCTCTTGGCCTCTGTCAGCCCATCTGGAAAATGGGGCCAGTGCCAGTACCTGTATCGCAGAGGCCATAGTAAATTCTATGAGGTGGGTACAGCCCACAGAAATACATTTTCTCCAGAGTGCTCCAAAGCCTGAATTTTCCTGCTTGGGGCACACCTGTCCCTGCAGGAACCAACAACCACTGATGGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCATTGCCCTCCAGCCTGAGCAACAAAAGCGAAACTCCGTCTCAAAAAAACAAAACAAAACAAAAACAAAAACAAACAAACCACAGATGTATTCATCCTTCTGGGTCACTAATCATGGCCTTGACTCTCCCTTGGTATCCCCTACCCTGTCTGTCTCTGGGCACAGGGCGCCCCTGTCTGCCGGAATGGGACCACATCCTGTGCTGGCCGCTGGGGGCACCAGGTGAGGTGGTGGCTGTGCCCTGTCCGGACTACATTTATGACTTCAATCACAAAGGTGAGGCCTGCTGGAAGGGGTGGGGATTACAAGGAGGCTGAGACTTGGAGCTAGGGGTTCAGTGCCTCGAGACCTCCCTGCCGGCCCTGACCTCCCATGGACCTGCAGGCCATGCCTACCGACGCTGTGACCGCAATGGCAGCTGGGAGCTGGTGCCTGGGCACAACAGGACGTGGGCCAACTACAGCGAGTGTGTCAAATTTCTCACCAATGAGACTCGTGAACGGGTGCGAGCCTTTCTCCTCCCCAACCTGACCAGGATAAATTCACTCCCACCCCACGGGTGACCCCTGACCCAGCCCTGACCCCTGACCTTGACTCCTCCAGCAACCTTACCCTGGCCTCTTGCTCTTACCCTGATGCTCTCCCTGGGTCCCAGGGCTCTGACTGTGTCTCCCCCCGCCCCGCACAGGAGGTGTTTGACCGCCTGGGCATGATTTACACCGTGGGCTACTCCGTGTCCCTGGCGTCCCTCACCGAAGCTGTGCTCATCCTGGCCTACTTTAGGTGGGCGGGGCGGGGCGAGAGGCGGCGGGACATGGTGGAGGGGGGGCGGTGGCCGAGGTCTGATGCGACCCCCTCCCTGCACCCATCACCCCCGGCGGGTGTCCCTACCTACGGCGCACAACCCAGCTTCCTGTCCACCCACCGCGCGTCCCCGTGCCCCCACCCACGGTCATGTCGCGCGCCCCGCAGGCGGCTGCACTGCACGCGCAACTACATCCACATGCACCTGTTCCTGTCCTTCATGCTGCGCGCCGTGAGCATCTTCGTCAAGGACGCTGTGCTCTACTCTGGCGCCACGCTTGATGAGGCTGAGCGCCTCACCGAGGAGGAGCTGCGCGCCATCGCCCAGGCGCCCCCGCCGCCTGCCACCGCCGCTGCCGGCTACGTGAGTACCCCTCTGCCCGCCCGCTCCCGGTGCCGCCACTGGCCTCGTGGGGCCCCGCCCCGCCCCGCTCCAGCCCGGCCCTCGCCCTGCCCGCCTCCTGCCAGCGCCACTGGCTTCAGCCACTCAAACCCGTCTTATAGGGTCCCTCGCAACCCTCAGCTCTGCCGCCGACCCTGCTGCCAAGGGCTCCGAGTGTCCCACACGCCCCGCGCTGCCATCAAGGCTCCTACCTCAACCCAGTACCCTCTAGCCACTCTACCTCTTCACTTTGCCTCCTGCCCCTGACACCGCATCCCCCTGAGAGAGCCCCCCAAACGAAGCCTGCCCCTTCCTGGCCTGTTTGGCCGGCACCACTTGTCCTCTCCTGCCGCCCCAGCCCCCCAGCCCAGCCCTGACTTCCCGGAGGCAGGCCCTGCCCTCTGACTAACACCAGCTGGTCTCTTAGGCGGGCTGCAGGGTGGCTGTGACCTTCTTCCTTTACTTCCTGGCCACCAACTACTACTGGATTCTGGTGGAGGGGCTGTACCTGCACAGCCTCATCTTCATGGCCTTCTTCTCAGAGAAGAAGTACCTGTGGGGCTTCACAGTCTTCGGCTGGGGTACGCGGGCACAGCGGGTAGCGAGGTGCCGGCAGGGGTGGGACCGTGGGTGACAGGGAGAGGGCAGCCCCTGGGGGGAGGCGCCCACACAGCACATCCCGCCCCAAGTGGAACAGCAGGAGAGAGGCCTGCCGCCCTTCTGTGATCCTGACCCTATTCCAGGCTCAGGAAACAGCAGGGCTTGGCCAGGGATCAGGTTCACCTGAGGTTAGATTCACCTGAATTGAGGCTCGGCCCAGGAGAGGGAAAGGAGGAACCATCAGGCCAAGATTCAGCTCAGGATCAGAGTAGGATACTGGGTCAGAGGTCAGCCTGGGGCTGGAATTGGGATCCGGGACCCTCCCTCTACCCTGAGCCCCATGGACTAGGCCAGCATCTATTACCCCACCAGTCCCCTTGCTGGGATGGGGCGCGGGGCTGCCCACACCATTGCCAGCCTCAGCAGGCCTGCGGGGTCCATGGCCCAGAGCCGTGGGCCCAGCACCTCAGCATCACCTGAGCTTCACAGCACCTCTGCAGAATGGGTTGCTGGAGCTGCGCACTCCTCCCAGCCCCCCACAGGCTCTGGGATCCAGTTACCGATAATTGTCCATTATTGTTGGCAGCTGCAGAGCTTGGCTGGGCTCCGGGACAACTGGCCAGACTGCAGAGGGGTGGGCCGGGTGGCTGGAGCCCTCTCTGCACTCAGCACCCAGAGGCCCACAGGTCAACAGCCACCGCCTCCCTGCCCCTCGACATACATCCTGACCCTGACCTCACCATGACAAGCCCCAGAGTTGGGGAGACCTGGGCCCAGTCCCAGGAACAGATGCAGGCTCTGGGGCTAGGAGGTGTCCTAGTGGACTGGCGACATGCAGATTGGGAGTGCATAGAATCCTGGGGCACAGGAATGTCACAGCTCTTTTTCTTACCGTAAAGCCAGGTCATACCCTATCCCTCCAAGGGTGTACCAGGCCTAGAGTCAAGTTGGTGGTATGTGGTCGGGGAGGACCTGGGGCTCCCTTCCCAGAGGCACAGCTCACCCAAATATACCATG
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Task1_train_6713
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Chromosome 3 houses a mutation in gene PTH1R (parathyroid hormone 1 receptor). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Primary failure of tooth eruption
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CCAGGGCGGGTCCAGCCATCAAGGCAGCCTTCCAGGGTGGCTGGAGAGTCCTGTGGTTGGAGCCCTACAGAGGGAGAGAAGGGGGCTGCAAGCTGGGAGTGGAATGTGGAAGATACAGAGGCTGGGGACCCTCCAAGGTCACTTAGCCTCCCTGCAGTGAGGCTGGGGCTCCAAAGTGGGATGTCACCCTACTTTGAATCCCACCATTAGCACTTAGATTTGGGGAATCGATCTCCCCCAGCAGTGGCCGTGGGAGTCTCACAGCAGGTACTCAGGGCAGGCATTGAGTGGTGGTAGAAGCATGGGCCAATGTGGTTAATCCCAACTTCCCAATGAGGAAATGGAAATAGAAAGACTTGGGACACCTGCGTGAGGTCAGCAGCTCCTTGGAGTCCAGCTGGCACTAGAAACCAGACCTCCTGCCTCCTGTCCATGATCCCAGGGGAAGGGGCACACAGGGAGCCTCCCAGCTGAGGGAGAGTTAGTCTGGGTACTTGCCCTTCTTCAGAGACACCTGGAAGGTGGTTCCAAGAGCAGAGAGAAAGGCGAGAGGCCTGGCCTGGGGCTGAGCACTTGAAGAGGACAGGGCCCTGTGTTGTATGACCTCAGCAAGTTGCCTACCTCTCTTGGCCTCTGTCAGCCCATCTGGAAAATGGGGCCAGTGCCAGTACCTGTATCGCAGAGGCCATAGTAAATTCTATGAGGTGGGTACAGCCCACAGAAATACATTTTCTCCAGAGTGCTCCAAAGCCTGAATTTTCCTGCTTGGGGCACACCTGTCCCTGCAGGAACCAACAACCACTGATGGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCATTGCCCTCCAGCCTGAGCAACAAAAGCGAAACTCCGTCTCAAAAAAACAAAACAAAACAAAAACAAAAACAAACAAACCACAGATGTATTCATCCTTCTGGGTCACTAATCATGGCCTTGACTCTCCCTTGGTATCCCCTACCCTGTCTGTCTCTGGGCACAGGGCGCCCCTGTCTGCCGGAATGGGACCACATCCTGTGCTGGCCGCTGGGGGCACCAGGTGAGGTGGTGGCTGTGCCCTGTCCGGACTACATTTATGACTTCAATCACAAAGGTGAGGCCTGCTGGAAGGGGTGGGGATTACAAGGAGGCTGAGACTTGGAGCTAGGGGTTCAGTGCCTCGAGACCTCCCTGCCGGCCCTGACCTCCCATGGACCTGCAGGCCATGCCTACCGACGCTGTGACCGCAATGGCAGCTGGGAGCTGGTGCCTGGGCACAACAGGACGTGGGCCAACTACAGCGAGTGTGTCAAATTTCTCACCAATGAGACTCGTGAACGGGTGCGAGCCTTTCTCCTCCCCAACCTGACCAGGATAAATTCACTCCCACCCCACGGGTGACCCCTGACCCAGCCCTGACCCCTGACCTTGACTCCTCCAGCAACCTTACCCTGGCCTCTTGCTCTTACCCTGATGCTCTCCCTGGGTCCCAGGGCTCTGACTGTGTCTCCCCCCGCCCCGCACAGGAGGTGTTTGACCGCCTGGGCATGATTTACACCGTGGGCTACTCCGTGTCCCTGGCGTCCCTCACCGTAGCTGTGCTCATCCTGGCCTACTTTAGGTGGGCGGGGCGGGGCGAGAGGCGGCGGGACATGGTGGAGGGGGGGCGGTGGCCGAGGTCTGATGCGACCCCCTCCCTGCACCCATCACCCCCGGCGGGTGTCCCTACCTACGGCGCACAACCCAGCTTCCTGTCCACCCACCGCGCGTCCCCGTGCCCCCACCCACGGTCATGTCGCGCGCCCCGCAGGCGGCTGCACTGCACGCGCAACTACATCCACATGCACCTGTTCCTGTCCTTCATGCTGCGCGCCGTGAGCATCTTCGTCAAGGACGCTGTGCTCTACTCTGGCGCCACGCTTGATGAGGCTGAGCGCCTCACCGAGGAGGAGCTGCGCGCCATCGCCCAGGCGCCCCCGCCGCCTGCCACCGCCGCTGCCGGCTACGTGAGTACCCCTCTGCCCGCCCGCTCCCGGTGCCGCCACTGGCCTCGTGGGGCCCCGCCCCGCCCCGCTCCAGCCCGGCCCTCGCCCTGCCCGCCTCCTGCCAGCGCCACTGGCTTCAGCCACTCAAACCCGTCTTATAGGGTCCCTCGCAACCCTCAGCTCTGCCGCCGACCCTGCTGCCAAGGGCTCCGAGTGTCCCACACGCCCCGCGCTGCCATCAAGGCTCCTACCTCAACCCAGTACCCTCTAGCCACTCTACCTCTTCACTTTGCCTCCTGCCCCTGACACCGCATCCCCCTGAGAGAGCCCCCCAAACGAAGCCTGCCCCTTCCTGGCCTGTTTGGCCGGCACCACTTGTCCTCTCCTGCCGCCCCAGCCCCCCAGCCCAGCCCTGACTTCCCGGAGGCAGGCCCTGCCCTCTGACTAACACCAGCTGGTCTCTTAGGCGGGCTGCAGGGTGGCTGTGACCTTCTTCCTTTACTTCCTGGCCACCAACTACTACTGGATTCTGGTGGAGGGGCTGTACCTGCACAGCCTCATCTTCATGGCCTTCTTCTCAGAGAAGAAGTACCTGTGGGGCTTCACAGTCTTCGGCTGGGGTACGCGGGCACAGCGGGTAGCGAGGTGCCGGCAGGGGTGGGACCGTGGGTGACAGGGAGAGGGCAGCCCCTGGGGGGAGGCGCCCACACAGCACATCCCGCCCCAAGTGGAACAGCAGGAGAGAGGCCTGCCGCCCTTCTGTGATCCTGACCCTATTCCAGGCTCAGGAAACAGCAGGGCTTGGCCAGGGATCAGGTTCACCTGAGGTTAGATTCACCTGAATTGAGGCTCGGCCCAGGAGAGGGAAAGGAGGAACCATCAGGCCAAGATTCAGCTCAGGATCAGAGTAGGATACTGGGTCAGAGGTCAGCCTGGGGCTGGAATTGGGATCCGGGACCCTCCCTCTACCCTGAGCCCCATGGACTAGGCCAGCATCTATTACCCCACCAGTCCCCTTGCTGGGATGGGGCGCGGGGCTGCCCACACCATTGCCAGCCTCAGCAGGCCTGCGGGGTCCATGGCCCAGAGCCGTGGGCCCAGCACCTCAGCATCACCTGAGCTTCACAGCACCTCTGCAGAATGGGTTGCTGGAGCTGCGCACTCCTCCCAGCCCCCCACAGGCTCTGGGATCCAGTTACCGATAATTGTCCATTATTGTTGGCAGCTGCAGAGCTTGGCTGGGCTCCGGGACAACTGGCCAGACTGCAGAGGGGTGGGCCGGGTGGCTGGAGCCCTCTCTGCACTCAGCACCCAGAGGCCCACAGGTCAACAGCCACCGCCTCCCTGCCCCTCGACATACATCCTGACCCTGACCTCACCATGACAAGCCCCAGAGTTGGGGAGACCTGGGCCCAGTCCCAGGAACAGATGCAGGCTCTGGGGCTAGGAGGTGTCCTAGTGGACTGGCGACATGCAGATTGGGAGTGCATAGAATCCTGGGGCACAGGAATGTCACAGCTCTTTTTCTTACCGTAAAGCCAGGTCATACCCTATCCCTCCAAGGGTGTACCAGGCCTAGAGTCAAGTTGGTGGTATGTGGTCGGGGAGGACCTGGGGCTCCCTTCCCAGAGGCACAGCTCACCCAAATATACCATGTGCCCCTTGAGCTGGCGCAGGCCAGGACATACTGACACACCGAGGTCTCCCTGTGGCCTCTGCTTGGGACAAAACCTCTCACCCCATCCAGTCTCATCCACGAGGGCTAGGACCTTTCAAACCAGGTTGTGGGGGGTGCTGTGCTGGGGCAAAAAAAAATGCGGAAAATAGGCTGTCTCCCCATGGGAGCTGCAAGTCCAAAGCAGTGCCCTCTGCAGAGGGAGTGGACAGGGCATGGATCAGTTA
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CCAGGGCGGGTCCAGCCATCAAGGCAGCCTTCCAGGGTGGCTGGAGAGTCCTGTGGTTGGAGCCCTACAGAGGGAGAGAAGGGGGCTGCAAGCTGGGAGTGGAATGTGGAAGATACAGAGGCTGGGGACCCTCCAAGGTCACTTAGCCTCCCTGCAGTGAGGCTGGGGCTCCAAAGTGGGATGTCACCCTACTTTGAATCCCACCATTAGCACTTAGATTTGGGGAATCGATCTCCCCCAGCAGTGGCCGTGGGAGTCTCACAGCAGGTACTCAGGGCAGGCATTGAGTGGTGGTAGAAGCATGGGCCAATGTGGTTAATCCCAACTTCCCAATGAGGAAATGGAAATAGAAAGACTTGGGACACCTGCGTGAGGTCAGCAGCTCCTTGGAGTCCAGCTGGCACTAGAAACCAGACCTCCTGCCTCCTGTCCATGATCCCAGGGGAAGGGGCACACAGGGAGCCTCCCAGCTGAGGGAGAGTTAGTCTGGGTACTTGCCCTTCTTCAGAGACACCTGGAAGGTGGTTCCAAGAGCAGAGAGAAAGGCGAGAGGCCTGGCCTGGGGCTGAGCACTTGAAGAGGACAGGGCCCTGTGTTGTATGACCTCAGCAAGTTGCCTACCTCTCTTGGCCTCTGTCAGCCCATCTGGAAAATGGGGCCAGTGCCAGTACCTGTATCGCAGAGGCCATAGTAAATTCTATGAGGTGGGTACAGCCCACAGAAATACATTTTCTCCAGAGTGCTCCAAAGCCTGAATTTTCCTGCTTGGGGCACACCTGTCCCTGCAGGAACCAACAACCACTGATGGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCATTGCCCTCCAGCCTGAGCAACAAAAGCGAAACTCCGTCTCAAAAAAACAAAACAAAACAAAAACAAAAACAAACAAACCACAGATGTATTCATCCTTCTGGGTCACTAATCATGGCCTTGACTCTCCCTTGGTATCCCCTACCCTGTCTGTCTCTGGGCACAGGGCGCCCCTGTCTGCCGGAATGGGACCACATCCTGTGCTGGCCGCTGGGGGCACCAGGTGAGGTGGTGGCTGTGCCCTGTCCGGACTACATTTATGACTTCAATCACAAAGGTGAGGCCTGCTGGAAGGGGTGGGGATTACAAGGAGGCTGAGACTTGGAGCTAGGGGTTCAGTGCCTCGAGACCTCCCTGCCGGCCCTGACCTCCCATGGACCTGCAGGCCATGCCTACCGACGCTGTGACCGCAATGGCAGCTGGGAGCTGGTGCCTGGGCACAACAGGACGTGGGCCAACTACAGCGAGTGTGTCAAATTTCTCACCAATGAGACTCGTGAACGGGTGCGAGCCTTTCTCCTCCCCAACCTGACCAGGATAAATTCACTCCCACCCCACGGGTGACCCCTGACCCAGCCCTGACCCCTGACCTTGACTCCTCCAGCAACCTTACCCTGGCCTCTTGCTCTTACCCTGATGCTCTCCCTGGGTCCCAGGGCTCTGACTGTGTCTCCCCCCGCCCCGCACAGGAGGTGTTTGACCGCCTGGGCATGATTTACACCGTGGGCTACTCCGTGTCCCTGGCGTCCCTCACCGTAGCTGTGCTCATCCTGGCCTACTTTAGGTGGGCGGGGCGGGGCGAGAGGCGGCGGGACATGGTGGAGGGGGGGCGGTGGCCGAGGTCTGATGCGACCCCCTCCCTGCACCCATCACCCCCGGCGGGTGTCCCTACCTACGGCGCACAACCCAGCTTCCTGTCCACCCACCGCGCGTCCCCGTGCCCCCACCCACGGTCATGTCGCGCGCCCCGCAGGCGGCTGCACTGCACGCGCAACTACATCCGCATGCACCTGTTCCTGTCCTTCATGCTGCGCGCCGTGAGCATCTTCGTCAAGGACGCTGTGCTCTACTCTGGCGCCACGCTTGATGAGGCTGAGCGCCTCACCGAGGAGGAGCTGCGCGCCATCGCCCAGGCGCCCCCGCCGCCTGCCACCGCCGCTGCCGGCTACGTGAGTACCCCTCTGCCCGCCCGCTCCCGGTGCCGCCACTGGCCTCGTGGGGCCCCGCCCCGCCCCGCTCCAGCCCGGCCCTCGCCCTGCCCGCCTCCTGCCAGCGCCACTGGCTTCAGCCACTCAAACCCGTCTTATAGGGTCCCTCGCAACCCTCAGCTCTGCCGCCGACCCTGCTGCCAAGGGCTCCGAGTGTCCCACACGCCCCGCGCTGCCATCAAGGCTCCTACCTCAACCCAGTACCCTCTAGCCACTCTACCTCTTCACTTTGCCTCCTGCCCCTGACACCGCATCCCCCTGAGAGAGCCCCCCAAACGAAGCCTGCCCCTTCCTGGCCTGTTTGGCCGGCACCACTTGTCCTCTCCTGCCGCCCCAGCCCCCCAGCCCAGCCCTGACTTCCCGGAGGCAGGCCCTGCCCTCTGACTAACACCAGCTGGTCTCTTAGGCGGGCTGCAGGGTGGCTGTGACCTTCTTCCTTTACTTCCTGGCCACCAACTACTACTGGATTCTGGTGGAGGGGCTGTACCTGCACAGCCTCATCTTCATGGCCTTCTTCTCAGAGAAGAAGTACCTGTGGGGCTTCACAGTCTTCGGCTGGGGTACGCGGGCACAGCGGGTAGCGAGGTGCCGGCAGGGGTGGGACCGTGGGTGACAGGGAGAGGGCAGCCCCTGGGGGGAGGCGCCCACACAGCACATCCCGCCCCAAGTGGAACAGCAGGAGAGAGGCCTGCCGCCCTTCTGTGATCCTGACCCTATTCCAGGCTCAGGAAACAGCAGGGCTTGGCCAGGGATCAGGTTCACCTGAGGTTAGATTCACCTGAATTGAGGCTCGGCCCAGGAGAGGGAAAGGAGGAACCATCAGGCCAAGATTCAGCTCAGGATCAGAGTAGGATACTGGGTCAGAGGTCAGCCTGGGGCTGGAATTGGGATCCGGGACCCTCCCTCTACCCTGAGCCCCATGGACTAGGCCAGCATCTATTACCCCACCAGTCCCCTTGCTGGGATGGGGCGCGGGGCTGCCCACACCATTGCCAGCCTCAGCAGGCCTGCGGGGTCCATGGCCCAGAGCCGTGGGCCCAGCACCTCAGCATCACCTGAGCTTCACAGCACCTCTGCAGAATGGGTTGCTGGAGCTGCGCACTCCTCCCAGCCCCCCACAGGCTCTGGGATCCAGTTACCGATAATTGTCCATTATTGTTGGCAGCTGCAGAGCTTGGCTGGGCTCCGGGACAACTGGCCAGACTGCAGAGGGGTGGGCCGGGTGGCTGGAGCCCTCTCTGCACTCAGCACCCAGAGGCCCACAGGTCAACAGCCACCGCCTCCCTGCCCCTCGACATACATCCTGACCCTGACCTCACCATGACAAGCCCCAGAGTTGGGGAGACCTGGGCCCAGTCCCAGGAACAGATGCAGGCTCTGGGGCTAGGAGGTGTCCTAGTGGACTGGCGACATGCAGATTGGGAGTGCATAGAATCCTGGGGCACAGGAATGTCACAGCTCTTTTTCTTACCGTAAAGCCAGGTCATACCCTATCCCTCCAAGGGTGTACCAGGCCTAGAGTCAAGTTGGTGGTATGTGGTCGGGGAGGACCTGGGGCTCCCTTCCCAGAGGCACAGCTCACCCAAATATACCATGTGCCCCTTGAGCTGGCGCAGGCCAGGACATACTGACACACCGAGGTCTCCCTGTGGCCTCTGCTTGGGACAAAACCTCTCACCCCATCCAGTCTCATCCACGAGGGCTAGGACCTTTCAAACCAGGTTGTGGGGGGTGCTGTGCTGGGGCAAAAAAAAATGCGGAAAATAGGCTGTCTCCCCATGGGAGCTGCAAGTCCAAAGCAGTGCCCTCTGCAGAGGGAGTGGACAGGGCATGGATCAGTTA
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Task1_train_6714
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Located on Chromosome 3, this mutation impacts PTH1R (parathyroid hormone 1 receptor). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; not provided
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ATACTGGGTCAGAGGTCAGCCTGGGGCTGGAATTGGGATCCGGGACCCTCCCTCTACCCTGAGCCCCATGGACTAGGCCAGCATCTATTACCCCACCAGTCCCCTTGCTGGGATGGGGCGCGGGGCTGCCCACACCATTGCCAGCCTCAGCAGGCCTGCGGGGTCCATGGCCCAGAGCCGTGGGCCCAGCACCTCAGCATCACCTGAGCTTCACAGCACCTCTGCAGAATGGGTTGCTGGAGCTGCGCACTCCTCCCAGCCCCCCACAGGCTCTGGGATCCAGTTACCGATAATTGTCCATTATTGTTGGCAGCTGCAGAGCTTGGCTGGGCTCCGGGACAACTGGCCAGACTGCAGAGGGGTGGGCCGGGTGGCTGGAGCCCTCTCTGCACTCAGCACCCAGAGGCCCACAGGTCAACAGCCACCGCCTCCCTGCCCCTCGACATACATCCTGACCCTGACCTCACCATGACAAGCCCCAGAGTTGGGGAGACCTGGGCCCAGTCCCAGGAACAGATGCAGGCTCTGGGGCTAGGAGGTGTCCTAGTGGACTGGCGACATGCAGATTGGGAGTGCATAGAATCCTGGGGCACAGGAATGTCACAGCTCTTTTTCTTACCGTAAAGCCAGGTCATACCCTATCCCTCCAAGGGTGTACCAGGCCTAGAGTCAAGTTGGTGGTATGTGGTCGGGGAGGACCTGGGGCTCCCTTCCCAGAGGCACAGCTCACCCAAATATACCATGTGCCCCTTGAGCTGGCGCAGGCCAGGACATACTGACACACCGAGGTCTCCCTGTGGCCTCTGCTTGGGACAAAACCTCTCACCCCATCCAGTCTCATCCACGAGGGCTAGGACCTTTCAAACCAGGTTGTGGGGGGTGCTGTGCTGGGGCAAAAAAAAATGCGGAAAATAGGCTGTCTCCCCATGGGAGCTGCAAGTCCAAAGCAGTGCCCTCTGCAGAGGGAGTGGACAGGGCATGGATCAGTTAGTGATACCTTATTATTATATTATGCCTTGTACCCCATATATGTGCATATGACATGGAGCCAAGATGAGGGCAGAGGCTGAGCTGGGTTTTGAGGGCTGGAGCCCCAAGGGGAAGCTGTTAGGGCACCACATGGCAGAGTGTGGCTCTGTCACCAAGTGGACCAAGTGCCCAGTGTCAGGGGTTCAGGGCAATGGTGGGGTAAGCTGGGGGTCATCGAGGATGAGGGGGGAATGACCTTGTGGACAGCAGCCACAGTCCTGCACACTGTCCCCCTCTGTGCCCACAGGTCTGCCCGCTGTCTTCGTGGCTGTGTGGGTCAGTGTCAGAGCTACCCTGGCCAACACCGGGTAGGTCCAGGTGGAGAAGGGGCCCAGGCAAGAAGCACCCCTGGGTCCCTTTTCTTCCAGGAAGCATGTGAGAGGGCCTCCTGTACCCTGGCCTCAAACGGCCCAGCCTCAGGAGTTCTCAGTCCAGCCTCAAGCCAGGAGCACCCTCAGGGTCACAGGAGGCTACTTCCAAAGAGGCCTGTGAGGGAGGCCTCAGGCCTGGCCACACCCAGCACCCCTGCCCTGTGTCCTCAACAGCTAATGTCAGACCAGACCAAATCTGGGTCTCTGTGGGCAGTCTTAGGATGGGAACAGGAGGGATGGGAGCTAATGCCTCAACCTCCCCCAGGTGCTGGGACTTGAGCTCCGGGAACAAAAAGTGGATCATCCAGGTGCCCATCCTGGCCTCCATTGTGGTGAGCAGGGGTGGGCTGCTGGCCACAGGGGTGGGTGGGATGTGCGCCTGCGTCCCCTGGAACCAGCCCCTGACAGGGACCTAGGAGGCTTCCCTGGACCCCAGTGTCAGAGCTACAGAGGCCGGAGGACCAGCTGATCCACACTCCAGCCCAGAAAGGAAAACCAAGGGCTCAAGGAGCCACCCAGAGATGCAGTGACAGAGCAGAGCCTATGGCCGTGGCTGCCAGGCCTTGCCCCGCCCCACTAGGGTGCAGCCTCCAGACGCAGCCCCCTCACTCCCACAGCTCAACTTCATCCTCTTCATCAATATCGTCCGGGTGCTCGCCACCAAGCTGCGGGAGACCAACGCCGGCCGGTGTGACACACGGCAGCAGTACCGGTGAGCCCACCATGCCTGCCATGCCCTGGCTCCTCAGGGGTCCCTGAGTCCTGGTACCATGTACCCCAGGAAAGACAGTGGCCCCATGAATGATCCTGGGGCAAGGGAAAGGACCCAGCGTCTGACTCCCTGGCTGTCCTCACCCACCTGGCCTGCCCAGCAGTGATGGGAGGCCCTAGGGCACCCCAAAGCCAGCCTGCCCACTTGTACCAGGCCCTGCACTAGAGCTGGAGTCTGTGAGTGTGCAACGAACTTGAACCTCTCCTCAAAGAGTTGGTTGCAGGGGGTCTGAGGAACAGGTAGGCGGTGAGTGGCCCCGGGAAGGCTGCAGCTCAGCTGAAACCTGAGGAGCGGACTGTGGGATAGTGAGGTTCGACCGTGGAGGGGAGTGCTTGCCAGCTGAGGGCTCCACAGGTGCGAAGGGCCCAGGGACAGGGGGACTGTCATTTGAAGTCCGCTCCGGGACACCGCTGAGAACCAACGGGCCCTATTAGCACTTAGCCAGGACAGCAGCCATGCAGGTGAACTGGGTTGTCCTCCCATGGTGACTGGAGCCCTGGGCCCCTTTGAGCTTCCGGAGCCTGGGGCTCGCAGGGTGGGGGGTGGCACAATGCTTGTTGAAGGGGAAGTGGCTTGGCCCTGACCTACCTGCCCCGCTGGCCCAGGAAGCTGCTCAAATCCACGCTGGTGCTCATGCCCCTCTTTGGCGTCCACTACATTGTCTTCATGGCCACACCATACACCGAGGTCTCAGGGACGCTCTGGCAAGTCCAGATGCACTATGAGATGCTCTTCAACTCCTTCCAGGTGCGCAGTGCTGGCCCGGGCCTGGCTGAGGGTGGGAGGGGTTCCGGGGGCAGGCCTGATTCGAGACACCCCTCTTCACAGGGATTTTTTGTCGCAATCATATACTGTTTCTGCAATGGCGAGGTAAGCAGGAGACAGTGTTGGCATAGGGCAGGGTGGGGCAGATACCCCAGAGGCTTCCTCAAGGCTCATTTCTCCATTCTTCCACCCTGTTATTTCTTTGTTCCTCCAAGAACACCCCTGAGGACATTCTGAAAGCAGAGAAGTCTTTCCAGATGATGCAGGTTCAGGATGTGCTAGGATGTGGGGACTCTTCAGTCACTGGCATAGCCAAGTGTCTTCCCAGCCCCATGGTTCAATTATCTGTGACCCAGATTGGAGGACTCAGCCACCTTTGGGGCAATTTGAGCCTTGTAGATTCTGGGTGTGTCGGCTGCCTGTAGCCAAACACCCTGTTGTGAGGATGGGATTTCACTTGGCCTTGGAGTTTCCCAGGAGTCCCCTATTCCCATTTTCATTCCGTGCTGGGTGTCCAGGGGCCGGGATGGGGCATCGCTGGGGTTGGGAGACACACCTGACTGCCGCACCCTTACTGCCCCAAGGTACAAGCTGAGATCAAGAAATCTTGGAGCCGCTGGACACTGGCACTGGACTTCAAGCGAAAGGCACGCAGCGGGAGCAGCAGCTATAGCTACGGCCCCATGGTGTCCCACACAAGTGTGACCAATGTCGGCCCCCGTGTGGGACTCGGCCTGCCCCTCAGCCCCCGCCTACTGCCCACTGCCACCACCAACGGCCACCCTCAGCTGCCTGGCCATGCCAAGCCAGGGACCCCAGCCCTGGAGACCCTCGAGACCACACCACCTGCCATGGCTGCTCCCAAGGACGATGGGTTCCTCAACGGCTCCTGCTCAGGCCTGGACGAGGAGGCCTCTGGGCCTGAGCGGCCACCTGCCCTGCTACAGGAAGAGTGGGAGACAGTCATGTGACCAGGCGCTGGGGGCTGGACCTGCTGACATAGTGGATGGACAGATGGACCAAAAGATGGGTGGTTGAATGATTTCCCACTCAGGGCTGGGGCCAAGAGGAAAAACAGGGAAAAAAAGAAAAAAAAAAGAAAAAGGAAAAGGAAGCGGTGTGTGGCTTCCTGTGGCCCAAACTGGGGACTCACTCCGAG
|
ATACTGGGTCAGAGGTCAGCCTGGGGCTGGAATTGGGATCCGGGACCCTCCCTCTACCCTGAGCCCCATGGACTAGGCCAGCATCTATTACCCCACCAGTCCCCTTGCTGGGATGGGGCGCGGGGCTGCCCACACCATTGCCAGCCTCAGCAGGCCTGCGGGGTCCATGGCCCAGAGCCGTGGGCCCAGCACCTCAGCATCACCTGAGCTTCACAGCACCTCTGCAGAATGGGTTGCTGGAGCTGCGCACTCCTCCCAGCCCCCCACAGGCTCTGGGATCCAGTTACCGATAATTGTCCATTATTGTTGGCAGCTGCAGAGCTTGGCTGGGCTCCGGGACAACTGGCCAGACTGCAGAGGGGTGGGCCGGGTGGCTGGAGCCCTCTCTGCACTCAGCACCCAGAGGCCCACAGGTCAACAGCCACCGCCTCCCTGCCCCTCGACATACATCCTGACCCTGACCTCACCATGACAAGCCCCAGAGTTGGGGAGACCTGGGCCCAGTCCCAGGAACAGATGCAGGCTCTGGGGCTAGGAGGTGTCCTAGTGGACTGGCGACATGCAGATTGGGAGTGCATAGAATCCTGGGGCACAGGAATGTCACAGCTCTTTTTCTTACCGTAAAGCCAGGTCATACCCTATCCCTCCAAGGGTGTACCAGGCCTAGAGTCAAGTTGGTGGTATGTGGTCGGGGAGGACCTGGGGCTCCCTTCCCAGAGGCACAGCTCACCCAAATATACCATGTGCCCCTTGAGCTGGCGCAGGCCAGGACATACTGACACACCGAGGTCTCCCTGTGGCCTCTGCTTGGGACAAAACCTCTCACCCCATCCAGTCTCATCCACGAGGGCTAGGACCTTTCAAACCAGGTTGTGGGGGGTGCTGTGCTGGGGCAAAAAAAAATGCGGAAAATAGGCTGTCTCCCCATGGGAGCTGCAAGTCCAAAGCAGTGCCCTCTGCAGAGGGAGTGGACAGGGCATGGATCAGTTAGTGATACCTTATTATTATATTATGCCTTGTACCCCATATATGTGCATATGACATGGAGCCAAGATGAGGGCAGAGGCTGAGCTGGGTTTTGAGGGCTGGAGCCCCAAGGGGAAGCTGTTAGGGCACCACATGGCAGAGTGTGGCTCTGTCACCAAGTGGACCAAGTGCCCAGTGTCAGGGGTTCAGGGCAATGGTGGGGTAAGCTGGGGGTCATCGAGGATGAGGGGGGAATGACCTTGTGGACAGCAGCCACAGTCCTGCACACTGTCCCCCTCTGTGCCCACAGGTCTGCCCGCTGTCTTCGTGGCTGTGTGGGTCAGTGTCAGAGCTACCCTGGCCAACACCGGGTAGGTCCAGGTGGAGAAGGGGCCCAGGCAAGAAGCACCCCTGGGTCCCTTTTCTTCCAGGAAGCATGTGAGAGGGCCTCCTGTACCCTGGCCTCAAACGGCCCAGCCTCAGGAGTTCTCAGTCCAGCCTCAAGCCAGGAGCACCCTCAGGGTCACAGGAGGCTACTTCCAAAGAGGCCTGTGAGGGAGGCCTCAGGCCTGGCCACACCCAGCACCCCTGCCCTGTGTCCTCAACAGCTAATGTCAGACCAGACCAAATCTGGGTCTCTGTGGGCAGTCTTAGGATGGGAACAGGAGGGATGGGAGCTAATGCCTCAACCTCCCCCAGGTGCTGGGACTTGAGCTCCGGGAACAAAAAGTGGATCATCCAGGTGCCCATCCTGGCCTCCATTGTGGTGAGCAGGGGTGGGCTGCTGGCCACAGGGGTGGGTGGGATGTGCGCCTGCGTCCCCTGGAACCAGCCCCTGACAGGGACCTAGGAGGCTTCCCTGGACCCCAGTGTCAGAGCTACAGAGGCCGGAGGACCAGCTGATCCACACTCCAGCCCAGAAAGGAAAACCAAGGGCTCAAGGAGCCACCCAGAGATGCAGTGACAGAGCAGAGCCTATGGCCGTGGCTGCCAGGCCTTGCCCCGCCCCACTAGGGTGCAGCCTCCAGACGCAGCCCCCTCACTCCCACAGCTCAACTTCATCCTCTTCATCAATATCGTCCAGGTGCTCGCCACCAAGCTGCGGGAGACCAACGCCGGCCGGTGTGACACACGGCAGCAGTACCGGTGAGCCCACCATGCCTGCCATGCCCTGGCTCCTCAGGGGTCCCTGAGTCCTGGTACCATGTACCCCAGGAAAGACAGTGGCCCCATGAATGATCCTGGGGCAAGGGAAAGGACCCAGCGTCTGACTCCCTGGCTGTCCTCACCCACCTGGCCTGCCCAGCAGTGATGGGAGGCCCTAGGGCACCCCAAAGCCAGCCTGCCCACTTGTACCAGGCCCTGCACTAGAGCTGGAGTCTGTGAGTGTGCAACGAACTTGAACCTCTCCTCAAAGAGTTGGTTGCAGGGGGTCTGAGGAACAGGTAGGCGGTGAGTGGCCCCGGGAAGGCTGCAGCTCAGCTGAAACCTGAGGAGCGGACTGTGGGATAGTGAGGTTCGACCGTGGAGGGGAGTGCTTGCCAGCTGAGGGCTCCACAGGTGCGAAGGGCCCAGGGACAGGGGGACTGTCATTTGAAGTCCGCTCCGGGACACCGCTGAGAACCAACGGGCCCTATTAGCACTTAGCCAGGACAGCAGCCATGCAGGTGAACTGGGTTGTCCTCCCATGGTGACTGGAGCCCTGGGCCCCTTTGAGCTTCCGGAGCCTGGGGCTCGCAGGGTGGGGGGTGGCACAATGCTTGTTGAAGGGGAAGTGGCTTGGCCCTGACCTACCTGCCCCGCTGGCCCAGGAAGCTGCTCAAATCCACGCTGGTGCTCATGCCCCTCTTTGGCGTCCACTACATTGTCTTCATGGCCACACCATACACCGAGGTCTCAGGGACGCTCTGGCAAGTCCAGATGCACTATGAGATGCTCTTCAACTCCTTCCAGGTGCGCAGTGCTGGCCCGGGCCTGGCTGAGGGTGGGAGGGGTTCCGGGGGCAGGCCTGATTCGAGACACCCCTCTTCACAGGGATTTTTTGTCGCAATCATATACTGTTTCTGCAATGGCGAGGTAAGCAGGAGACAGTGTTGGCATAGGGCAGGGTGGGGCAGATACCCCAGAGGCTTCCTCAAGGCTCATTTCTCCATTCTTCCACCCTGTTATTTCTTTGTTCCTCCAAGAACACCCCTGAGGACATTCTGAAAGCAGAGAAGTCTTTCCAGATGATGCAGGTTCAGGATGTGCTAGGATGTGGGGACTCTTCAGTCACTGGCATAGCCAAGTGTCTTCCCAGCCCCATGGTTCAATTATCTGTGACCCAGATTGGAGGACTCAGCCACCTTTGGGGCAATTTGAGCCTTGTAGATTCTGGGTGTGTCGGCTGCCTGTAGCCAAACACCCTGTTGTGAGGATGGGATTTCACTTGGCCTTGGAGTTTCCCAGGAGTCCCCTATTCCCATTTTCATTCCGTGCTGGGTGTCCAGGGGCCGGGATGGGGCATCGCTGGGGTTGGGAGACACACCTGACTGCCGCACCCTTACTGCCCCAAGGTACAAGCTGAGATCAAGAAATCTTGGAGCCGCTGGACACTGGCACTGGACTTCAAGCGAAAGGCACGCAGCGGGAGCAGCAGCTATAGCTACGGCCCCATGGTGTCCCACACAAGTGTGACCAATGTCGGCCCCCGTGTGGGACTCGGCCTGCCCCTCAGCCCCCGCCTACTGCCCACTGCCACCACCAACGGCCACCCTCAGCTGCCTGGCCATGCCAAGCCAGGGACCCCAGCCCTGGAGACCCTCGAGACCACACCACCTGCCATGGCTGCTCCCAAGGACGATGGGTTCCTCAACGGCTCCTGCTCAGGCCTGGACGAGGAGGCCTCTGGGCCTGAGCGGCCACCTGCCCTGCTACAGGAAGAGTGGGAGACAGTCATGTGACCAGGCGCTGGGGGCTGGACCTGCTGACATAGTGGATGGACAGATGGACCAAAAGATGGGTGGTTGAATGATTTCCCACTCAGGGCTGGGGCCAAGAGGAAAAACAGGGAAAAAAAGAAAAAAAAAAGAAAAAGGAAAAGGAAGCGGTGTGTGGCTTCCTGTGGCCCAAACTGGGGACTCACTCCGAG
|
Task1_train_6715
|
A mutation found in PTH1R (parathyroid hormone 1 receptor) on Chromosome 3 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
|
Pathogenic; Metaphyseal chondrodysplasia, Jansen type
|
GCCCCTTGAGCTGGCGCAGGCCAGGACATACTGACACACCGAGGTCTCCCTGTGGCCTCTGCTTGGGACAAAACCTCTCACCCCATCCAGTCTCATCCACGAGGGCTAGGACCTTTCAAACCAGGTTGTGGGGGGTGCTGTGCTGGGGCAAAAAAAAATGCGGAAAATAGGCTGTCTCCCCATGGGAGCTGCAAGTCCAAAGCAGTGCCCTCTGCAGAGGGAGTGGACAGGGCATGGATCAGTTAGTGATACCTTATTATTATATTATGCCTTGTACCCCATATATGTGCATATGACATGGAGCCAAGATGAGGGCAGAGGCTGAGCTGGGTTTTGAGGGCTGGAGCCCCAAGGGGAAGCTGTTAGGGCACCACATGGCAGAGTGTGGCTCTGTCACCAAGTGGACCAAGTGCCCAGTGTCAGGGGTTCAGGGCAATGGTGGGGTAAGCTGGGGGTCATCGAGGATGAGGGGGGAATGACCTTGTGGACAGCAGCCACAGTCCTGCACACTGTCCCCCTCTGTGCCCACAGGTCTGCCCGCTGTCTTCGTGGCTGTGTGGGTCAGTGTCAGAGCTACCCTGGCCAACACCGGGTAGGTCCAGGTGGAGAAGGGGCCCAGGCAAGAAGCACCCCTGGGTCCCTTTTCTTCCAGGAAGCATGTGAGAGGGCCTCCTGTACCCTGGCCTCAAACGGCCCAGCCTCAGGAGTTCTCAGTCCAGCCTCAAGCCAGGAGCACCCTCAGGGTCACAGGAGGCTACTTCCAAAGAGGCCTGTGAGGGAGGCCTCAGGCCTGGCCACACCCAGCACCCCTGCCCTGTGTCCTCAACAGCTAATGTCAGACCAGACCAAATCTGGGTCTCTGTGGGCAGTCTTAGGATGGGAACAGGAGGGATGGGAGCTAATGCCTCAACCTCCCCCAGGTGCTGGGACTTGAGCTCCGGGAACAAAAAGTGGATCATCCAGGTGCCCATCCTGGCCTCCATTGTGGTGAGCAGGGGTGGGCTGCTGGCCACAGGGGTGGGTGGGATGTGCGCCTGCGTCCCCTGGAACCAGCCCCTGACAGGGACCTAGGAGGCTTCCCTGGACCCCAGTGTCAGAGCTACAGAGGCCGGAGGACCAGCTGATCCACACTCCAGCCCAGAAAGGAAAACCAAGGGCTCAAGGAGCCACCCAGAGATGCAGTGACAGAGCAGAGCCTATGGCCGTGGCTGCCAGGCCTTGCCCCGCCCCACTAGGGTGCAGCCTCCAGACGCAGCCCCCTCACTCCCACAGCTCAACTTCATCCTCTTCATCAATATCGTCCGGGTGCTCGCCACCAAGCTGCGGGAGACCAACGCCGGCCGGTGTGACACACGGCAGCAGTACCGGTGAGCCCACCATGCCTGCCATGCCCTGGCTCCTCAGGGGTCCCTGAGTCCTGGTACCATGTACCCCAGGAAAGACAGTGGCCCCATGAATGATCCTGGGGCAAGGGAAAGGACCCAGCGTCTGACTCCCTGGCTGTCCTCACCCACCTGGCCTGCCCAGCAGTGATGGGAGGCCCTAGGGCACCCCAAAGCCAGCCTGCCCACTTGTACCAGGCCCTGCACTAGAGCTGGAGTCTGTGAGTGTGCAACGAACTTGAACCTCTCCTCAAAGAGTTGGTTGCAGGGGGTCTGAGGAACAGGTAGGCGGTGAGTGGCCCCGGGAAGGCTGCAGCTCAGCTGAAACCTGAGGAGCGGACTGTGGGATAGTGAGGTTCGACCGTGGAGGGGAGTGCTTGCCAGCTGAGGGCTCCACAGGTGCGAAGGGCCCAGGGACAGGGGGACTGTCATTTGAAGTCCGCTCCGGGACACCGCTGAGAACCAACGGGCCCTATTAGCACTTAGCCAGGACAGCAGCCATGCAGGTGAACTGGGTTGTCCTCCCATGGTGACTGGAGCCCTGGGCCCCTTTGAGCTTCCGGAGCCTGGGGCTCGCAGGGTGGGGGGTGGCACAATGCTTGTTGAAGGGGAAGTGGCTTGGCCCTGACCTACCTGCCCCGCTGGCCCAGGAAGCTGCTCAAATCCACGCTGGTGCTCATGCCCCTCTTTGGCGTCCACTACATTGTCTTCATGGCCACACCATACACCGAGGTCTCAGGGACGCTCTGGCAAGTCCAGATGCACTATGAGATGCTCTTCAACTCCTTCCAGGTGCGCAGTGCTGGCCCGGGCCTGGCTGAGGGTGGGAGGGGTTCCGGGGGCAGGCCTGATTCGAGACACCCCTCTTCACAGGGATTTTTTGTCGCAATCATATACTGTTTCTGCAATGGCGAGGTAAGCAGGAGACAGTGTTGGCATAGGGCAGGGTGGGGCAGATACCCCAGAGGCTTCCTCAAGGCTCATTTCTCCATTCTTCCACCCTGTTATTTCTTTGTTCCTCCAAGAACACCCCTGAGGACATTCTGAAAGCAGAGAAGTCTTTCCAGATGATGCAGGTTCAGGATGTGCTAGGATGTGGGGACTCTTCAGTCACTGGCATAGCCAAGTGTCTTCCCAGCCCCATGGTTCAATTATCTGTGACCCAGATTGGAGGACTCAGCCACCTTTGGGGCAATTTGAGCCTTGTAGATTCTGGGTGTGTCGGCTGCCTGTAGCCAAACACCCTGTTGTGAGGATGGGATTTCACTTGGCCTTGGAGTTTCCCAGGAGTCCCCTATTCCCATTTTCATTCCGTGCTGGGTGTCCAGGGGCCGGGATGGGGCATCGCTGGGGTTGGGAGACACACCTGACTGCCGCACCCTTACTGCCCCAAGGTACAAGCTGAGATCAAGAAATCTTGGAGCCGCTGGACACTGGCACTGGACTTCAAGCGAAAGGCACGCAGCGGGAGCAGCAGCTATAGCTACGGCCCCATGGTGTCCCACACAAGTGTGACCAATGTCGGCCCCCGTGTGGGACTCGGCCTGCCCCTCAGCCCCCGCCTACTGCCCACTGCCACCACCAACGGCCACCCTCAGCTGCCTGGCCATGCCAAGCCAGGGACCCCAGCCCTGGAGACCCTCGAGACCACACCACCTGCCATGGCTGCTCCCAAGGACGATGGGTTCCTCAACGGCTCCTGCTCAGGCCTGGACGAGGAGGCCTCTGGGCCTGAGCGGCCACCTGCCCTGCTACAGGAAGAGTGGGAGACAGTCATGTGACCAGGCGCTGGGGGCTGGACCTGCTGACATAGTGGATGGACAGATGGACCAAAAGATGGGTGGTTGAATGATTTCCCACTCAGGGCTGGGGCCAAGAGGAAAAACAGGGAAAAAAAGAAAAAAAAAAGAAAAAGGAAAAGGAAGCGGTGTGTGGCTTCCTGTGGCCCAAACTGGGGACTCACTCCGAGAGGGTGGGGCTGGGAGCCAGGGAAAGCTGTGGCGGGAGGGCCATGAGTCATGGAGGAATCCTCAGGTCTCACTTCAGAATGGGGAGGGATCTGGGGCCTGTGGTATCCAGCAGAAAGGGCCCAGAGTGGCTCAAGTCTGCAGGGGTCACACAGCAGCCAAGTGGACCCATGTGGAAATCCAGCCTCAGCCTCCGTTGCTGCCAGCTGTGGAGCTGCTCTCCACACTTGTACCTAGACCCCATGGGGGACCCAGGCTCCTCTGGGCCAACTCTTCTGACTGCTGCCCCCATCACTGCCACCCAGGGCTGCTGGCAGATCCCTCGGGTCCCTGGCCACACCCCCAAGCCTACGGCCCTGCCACAGAATGGACCTTTCCTGGCTGTCCAGTGGCCACTCAGGGAGCCCTCCACGCAGGAGCCTTAGCATCCACCCGTGACCTGACATGCCTCTGTGACTGAGGTTGCAGTAGGAGCACCAGGCCAGCAGGTGAAGGGTGGGCTGGGTCCCTGCTCTGGCTCAGGACTTGTGGGGAGCCAGGAGTCTGAGCCCAGAGGGCTGGCTGGGCAGGGGCCTGCAAGGTGGGACACATCCATTCACTATGCATCTGGGACAGTCACTAAGTGTCCTCACCTGACACCCACCTACCACCTTACTCACCCCCCCGGACCGTGCCCTCTCCCACCTTGGGCCATTCGTGGGCCCCAGAGTGGCACAGAGCCCCTCAGCCCGACACCCTGAGGACTGA
|
GCCCCTTGAGCTGGCGCAGGCCAGGACATACTGACACACCGAGGTCTCCCTGTGGCCTCTGCTTGGGACAAAACCTCTCACCCCATCCAGTCTCATCCACGAGGGCTAGGACCTTTCAAACCAGGTTGTGGGGGGTGCTGTGCTGGGGCAAAAAAAAATGCGGAAAATAGGCTGTCTCCCCATGGGAGCTGCAAGTCCAAAGCAGTGCCCTCTGCAGAGGGAGTGGACAGGGCATGGATCAGTTAGTGATACCTTATTATTATATTATGCCTTGTACCCCATATATGTGCATATGACATGGAGCCAAGATGAGGGCAGAGGCTGAGCTGGGTTTTGAGGGCTGGAGCCCCAAGGGGAAGCTGTTAGGGCACCACATGGCAGAGTGTGGCTCTGTCACCAAGTGGACCAAGTGCCCAGTGTCAGGGGTTCAGGGCAATGGTGGGGTAAGCTGGGGGTCATCGAGGATGAGGGGGGAATGACCTTGTGGACAGCAGCCACAGTCCTGCACACTGTCCCCCTCTGTGCCCACAGGTCTGCCCGCTGTCTTCGTGGCTGTGTGGGTCAGTGTCAGAGCTACCCTGGCCAACACCGGGTAGGTCCAGGTGGAGAAGGGGCCCAGGCAAGAAGCACCCCTGGGTCCCTTTTCTTCCAGGAAGCATGTGAGAGGGCCTCCTGTACCCTGGCCTCAAACGGCCCAGCCTCAGGAGTTCTCAGTCCAGCCTCAAGCCAGGAGCACCCTCAGGGTCACAGGAGGCTACTTCCAAAGAGGCCTGTGAGGGAGGCCTCAGGCCTGGCCACACCCAGCACCCCTGCCCTGTGTCCTCAACAGCTAATGTCAGACCAGACCAAATCTGGGTCTCTGTGGGCAGTCTTAGGATGGGAACAGGAGGGATGGGAGCTAATGCCTCAACCTCCCCCAGGTGCTGGGACTTGAGCTCCGGGAACAAAAAGTGGATCATCCAGGTGCCCATCCTGGCCTCCATTGTGGTGAGCAGGGGTGGGCTGCTGGCCACAGGGGTGGGTGGGATGTGCGCCTGCGTCCCCTGGAACCAGCCCCTGACAGGGACCTAGGAGGCTTCCCTGGACCCCAGTGTCAGAGCTACAGAGGCCGGAGGACCAGCTGATCCACACTCCAGCCCAGAAAGGAAAACCAAGGGCTCAAGGAGCCACCCAGAGATGCAGTGACAGAGCAGAGCCTATGGCCGTGGCTGCCAGGCCTTGCCCCGCCCCACTAGGGTGCAGCCTCCAGACGCAGCCCCCTCACTCCCACAGCTCAACTTCATCCTCTTCATCAATATCGTCCGGGTGCTCGCCACCAAGCTGCGGGAGACCAACGCCGGCCGGTGTGACACACGGCAGCAGTACCGGTGAGCCCACCATGCCTGCCATGCCCTGGCTCCTCAGGGGTCCCTGAGTCCTGGTACCATGTACCCCAGGAAAGACAGTGGCCCCATGAATGATCCTGGGGCAAGGGAAAGGACCCAGCGTCTGACTCCCTGGCTGTCCTCACCCACCTGGCCTGCCCAGCAGTGATGGGAGGCCCTAGGGCACCCCAAAGCCAGCCTGCCCACTTGTACCAGGCCCTGCACTAGAGCTGGAGTCTGTGAGTGTGCAACGAACTTGAACCTCTCCTCAAAGAGTTGGTTGCAGGGGGTCTGAGGAACAGGTAGGCGGTGAGTGGCCCCGGGAAGGCTGCAGCTCAGCTGAAACCTGAGGAGCGGACTGTGGGATAGTGAGGTTCGACCGTGGAGGGGAGTGCTTGCCAGCTGAGGGCTCCACAGGTGCGAAGGGCCCAGGGACAGGGGGACTGTCATTTGAAGTCCGCTCCGGGACACCGCTGAGAACCAACGGGCCCTATTAGCACTTAGCCAGGACAGCAGCCATGCAGGTGAACTGGGTTGTCCTCCCATGGTGACTGGAGCCCTGGGCCCCTTTGAGCTTCCGGAGCCTGGGGCTCGCAGGGTGGGGGGTGGCACAATGCTTGTTGAAGGGGAAGTGGCTTGGCCCTGACCTACCTGCCCCGCTGGCCCAGGAAGCTGCTCAAATCCCCGCTGGTGCTCATGCCCCTCTTTGGCGTCCACTACATTGTCTTCATGGCCACACCATACACCGAGGTCTCAGGGACGCTCTGGCAAGTCCAGATGCACTATGAGATGCTCTTCAACTCCTTCCAGGTGCGCAGTGCTGGCCCGGGCCTGGCTGAGGGTGGGAGGGGTTCCGGGGGCAGGCCTGATTCGAGACACCCCTCTTCACAGGGATTTTTTGTCGCAATCATATACTGTTTCTGCAATGGCGAGGTAAGCAGGAGACAGTGTTGGCATAGGGCAGGGTGGGGCAGATACCCCAGAGGCTTCCTCAAGGCTCATTTCTCCATTCTTCCACCCTGTTATTTCTTTGTTCCTCCAAGAACACCCCTGAGGACATTCTGAAAGCAGAGAAGTCTTTCCAGATGATGCAGGTTCAGGATGTGCTAGGATGTGGGGACTCTTCAGTCACTGGCATAGCCAAGTGTCTTCCCAGCCCCATGGTTCAATTATCTGTGACCCAGATTGGAGGACTCAGCCACCTTTGGGGCAATTTGAGCCTTGTAGATTCTGGGTGTGTCGGCTGCCTGTAGCCAAACACCCTGTTGTGAGGATGGGATTTCACTTGGCCTTGGAGTTTCCCAGGAGTCCCCTATTCCCATTTTCATTCCGTGCTGGGTGTCCAGGGGCCGGGATGGGGCATCGCTGGGGTTGGGAGACACACCTGACTGCCGCACCCTTACTGCCCCAAGGTACAAGCTGAGATCAAGAAATCTTGGAGCCGCTGGACACTGGCACTGGACTTCAAGCGAAAGGCACGCAGCGGGAGCAGCAGCTATAGCTACGGCCCCATGGTGTCCCACACAAGTGTGACCAATGTCGGCCCCCGTGTGGGACTCGGCCTGCCCCTCAGCCCCCGCCTACTGCCCACTGCCACCACCAACGGCCACCCTCAGCTGCCTGGCCATGCCAAGCCAGGGACCCCAGCCCTGGAGACCCTCGAGACCACACCACCTGCCATGGCTGCTCCCAAGGACGATGGGTTCCTCAACGGCTCCTGCTCAGGCCTGGACGAGGAGGCCTCTGGGCCTGAGCGGCCACCTGCCCTGCTACAGGAAGAGTGGGAGACAGTCATGTGACCAGGCGCTGGGGGCTGGACCTGCTGACATAGTGGATGGACAGATGGACCAAAAGATGGGTGGTTGAATGATTTCCCACTCAGGGCTGGGGCCAAGAGGAAAAACAGGGAAAAAAAGAAAAAAAAAAGAAAAAGGAAAAGGAAGCGGTGTGTGGCTTCCTGTGGCCCAAACTGGGGACTCACTCCGAGAGGGTGGGGCTGGGAGCCAGGGAAAGCTGTGGCGGGAGGGCCATGAGTCATGGAGGAATCCTCAGGTCTCACTTCAGAATGGGGAGGGATCTGGGGCCTGTGGTATCCAGCAGAAAGGGCCCAGAGTGGCTCAAGTCTGCAGGGGTCACACAGCAGCCAAGTGGACCCATGTGGAAATCCAGCCTCAGCCTCCGTTGCTGCCAGCTGTGGAGCTGCTCTCCACACTTGTACCTAGACCCCATGGGGGACCCAGGCTCCTCTGGGCCAACTCTTCTGACTGCTGCCCCCATCACTGCCACCCAGGGCTGCTGGCAGATCCCTCGGGTCCCTGGCCACACCCCCAAGCCTACGGCCCTGCCACAGAATGGACCTTTCCTGGCTGTCCAGTGGCCACTCAGGGAGCCCTCCACGCAGGAGCCTTAGCATCCACCCGTGACCTGACATGCCTCTGTGACTGAGGTTGCAGTAGGAGCACCAGGCCAGCAGGTGAAGGGTGGGCTGGGTCCCTGCTCTGGCTCAGGACTTGTGGGGAGCCAGGAGTCTGAGCCCAGAGGGCTGGCTGGGCAGGGGCCTGCAAGGTGGGACACATCCATTCACTATGCATCTGGGACAGTCACTAAGTGTCCTCACCTGACACCCACCTACCACCTTACTCACCCCCCCGGACCGTGCCCTCTCCCACCTTGGGCCATTCGTGGGCCCCAGAGTGGCACAGAGCCCCTCAGCCCGACACCCTGAGGACTGA
|
Task1_train_6716
|
This sequence change occurs on Chromosome 3, altering PTH1R (parathyroid hormone 1 receptor). What is the medical significance of this variant — is it benign or linked to a disease?
|
Pathogenic; Metaphyseal chondrodysplasia, Jansen type
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CCCCTTGAGCTGGCGCAGGCCAGGACATACTGACACACCGAGGTCTCCCTGTGGCCTCTGCTTGGGACAAAACCTCTCACCCCATCCAGTCTCATCCACGAGGGCTAGGACCTTTCAAACCAGGTTGTGGGGGGTGCTGTGCTGGGGCAAAAAAAAATGCGGAAAATAGGCTGTCTCCCCATGGGAGCTGCAAGTCCAAAGCAGTGCCCTCTGCAGAGGGAGTGGACAGGGCATGGATCAGTTAGTGATACCTTATTATTATATTATGCCTTGTACCCCATATATGTGCATATGACATGGAGCCAAGATGAGGGCAGAGGCTGAGCTGGGTTTTGAGGGCTGGAGCCCCAAGGGGAAGCTGTTAGGGCACCACATGGCAGAGTGTGGCTCTGTCACCAAGTGGACCAAGTGCCCAGTGTCAGGGGTTCAGGGCAATGGTGGGGTAAGCTGGGGGTCATCGAGGATGAGGGGGGAATGACCTTGTGGACAGCAGCCACAGTCCTGCACACTGTCCCCCTCTGTGCCCACAGGTCTGCCCGCTGTCTTCGTGGCTGTGTGGGTCAGTGTCAGAGCTACCCTGGCCAACACCGGGTAGGTCCAGGTGGAGAAGGGGCCCAGGCAAGAAGCACCCCTGGGTCCCTTTTCTTCCAGGAAGCATGTGAGAGGGCCTCCTGTACCCTGGCCTCAAACGGCCCAGCCTCAGGAGTTCTCAGTCCAGCCTCAAGCCAGGAGCACCCTCAGGGTCACAGGAGGCTACTTCCAAAGAGGCCTGTGAGGGAGGCCTCAGGCCTGGCCACACCCAGCACCCCTGCCCTGTGTCCTCAACAGCTAATGTCAGACCAGACCAAATCTGGGTCTCTGTGGGCAGTCTTAGGATGGGAACAGGAGGGATGGGAGCTAATGCCTCAACCTCCCCCAGGTGCTGGGACTTGAGCTCCGGGAACAAAAAGTGGATCATCCAGGTGCCCATCCTGGCCTCCATTGTGGTGAGCAGGGGTGGGCTGCTGGCCACAGGGGTGGGTGGGATGTGCGCCTGCGTCCCCTGGAACCAGCCCCTGACAGGGACCTAGGAGGCTTCCCTGGACCCCAGTGTCAGAGCTACAGAGGCCGGAGGACCAGCTGATCCACACTCCAGCCCAGAAAGGAAAACCAAGGGCTCAAGGAGCCACCCAGAGATGCAGTGACAGAGCAGAGCCTATGGCCGTGGCTGCCAGGCCTTGCCCCGCCCCACTAGGGTGCAGCCTCCAGACGCAGCCCCCTCACTCCCACAGCTCAACTTCATCCTCTTCATCAATATCGTCCGGGTGCTCGCCACCAAGCTGCGGGAGACCAACGCCGGCCGGTGTGACACACGGCAGCAGTACCGGTGAGCCCACCATGCCTGCCATGCCCTGGCTCCTCAGGGGTCCCTGAGTCCTGGTACCATGTACCCCAGGAAAGACAGTGGCCCCATGAATGATCCTGGGGCAAGGGAAAGGACCCAGCGTCTGACTCCCTGGCTGTCCTCACCCACCTGGCCTGCCCAGCAGTGATGGGAGGCCCTAGGGCACCCCAAAGCCAGCCTGCCCACTTGTACCAGGCCCTGCACTAGAGCTGGAGTCTGTGAGTGTGCAACGAACTTGAACCTCTCCTCAAAGAGTTGGTTGCAGGGGGTCTGAGGAACAGGTAGGCGGTGAGTGGCCCCGGGAAGGCTGCAGCTCAGCTGAAACCTGAGGAGCGGACTGTGGGATAGTGAGGTTCGACCGTGGAGGGGAGTGCTTGCCAGCTGAGGGCTCCACAGGTGCGAAGGGCCCAGGGACAGGGGGACTGTCATTTGAAGTCCGCTCCGGGACACCGCTGAGAACCAACGGGCCCTATTAGCACTTAGCCAGGACAGCAGCCATGCAGGTGAACTGGGTTGTCCTCCCATGGTGACTGGAGCCCTGGGCCCCTTTGAGCTTCCGGAGCCTGGGGCTCGCAGGGTGGGGGGTGGCACAATGCTTGTTGAAGGGGAAGTGGCTTGGCCCTGACCTACCTGCCCCGCTGGCCCAGGAAGCTGCTCAAATCCACGCTGGTGCTCATGCCCCTCTTTGGCGTCCACTACATTGTCTTCATGGCCACACCATACACCGAGGTCTCAGGGACGCTCTGGCAAGTCCAGATGCACTATGAGATGCTCTTCAACTCCTTCCAGGTGCGCAGTGCTGGCCCGGGCCTGGCTGAGGGTGGGAGGGGTTCCGGGGGCAGGCCTGATTCGAGACACCCCTCTTCACAGGGATTTTTTGTCGCAATCATATACTGTTTCTGCAATGGCGAGGTAAGCAGGAGACAGTGTTGGCATAGGGCAGGGTGGGGCAGATACCCCAGAGGCTTCCTCAAGGCTCATTTCTCCATTCTTCCACCCTGTTATTTCTTTGTTCCTCCAAGAACACCCCTGAGGACATTCTGAAAGCAGAGAAGTCTTTCCAGATGATGCAGGTTCAGGATGTGCTAGGATGTGGGGACTCTTCAGTCACTGGCATAGCCAAGTGTCTTCCCAGCCCCATGGTTCAATTATCTGTGACCCAGATTGGAGGACTCAGCCACCTTTGGGGCAATTTGAGCCTTGTAGATTCTGGGTGTGTCGGCTGCCTGTAGCCAAACACCCTGTTGTGAGGATGGGATTTCACTTGGCCTTGGAGTTTCCCAGGAGTCCCCTATTCCCATTTTCATTCCGTGCTGGGTGTCCAGGGGCCGGGATGGGGCATCGCTGGGGTTGGGAGACACACCTGACTGCCGCACCCTTACTGCCCCAAGGTACAAGCTGAGATCAAGAAATCTTGGAGCCGCTGGACACTGGCACTGGACTTCAAGCGAAAGGCACGCAGCGGGAGCAGCAGCTATAGCTACGGCCCCATGGTGTCCCACACAAGTGTGACCAATGTCGGCCCCCGTGTGGGACTCGGCCTGCCCCTCAGCCCCCGCCTACTGCCCACTGCCACCACCAACGGCCACCCTCAGCTGCCTGGCCATGCCAAGCCAGGGACCCCAGCCCTGGAGACCCTCGAGACCACACCACCTGCCATGGCTGCTCCCAAGGACGATGGGTTCCTCAACGGCTCCTGCTCAGGCCTGGACGAGGAGGCCTCTGGGCCTGAGCGGCCACCTGCCCTGCTACAGGAAGAGTGGGAGACAGTCATGTGACCAGGCGCTGGGGGCTGGACCTGCTGACATAGTGGATGGACAGATGGACCAAAAGATGGGTGGTTGAATGATTTCCCACTCAGGGCTGGGGCCAAGAGGAAAAACAGGGAAAAAAAGAAAAAAAAAAGAAAAAGGAAAAGGAAGCGGTGTGTGGCTTCCTGTGGCCCAAACTGGGGACTCACTCCGAGAGGGTGGGGCTGGGAGCCAGGGAAAGCTGTGGCGGGAGGGCCATGAGTCATGGAGGAATCCTCAGGTCTCACTTCAGAATGGGGAGGGATCTGGGGCCTGTGGTATCCAGCAGAAAGGGCCCAGAGTGGCTCAAGTCTGCAGGGGTCACACAGCAGCCAAGTGGACCCATGTGGAAATCCAGCCTCAGCCTCCGTTGCTGCCAGCTGTGGAGCTGCTCTCCACACTTGTACCTAGACCCCATGGGGGACCCAGGCTCCTCTGGGCCAACTCTTCTGACTGCTGCCCCCATCACTGCCACCCAGGGCTGCTGGCAGATCCCTCGGGTCCCTGGCCACACCCCCAAGCCTACGGCCCTGCCACAGAATGGACCTTTCCTGGCTGTCCAGTGGCCACTCAGGGAGCCCTCCACGCAGGAGCCTTAGCATCCACCCGTGACCTGACATGCCTCTGTGACTGAGGTTGCAGTAGGAGCACCAGGCCAGCAGGTGAAGGGTGGGCTGGGTCCCTGCTCTGGCTCAGGACTTGTGGGGAGCCAGGAGTCTGAGCCCAGAGGGCTGGCTGGGCAGGGGCCTGCAAGGTGGGACACATCCATTCACTATGCATCTGGGACAGTCACTAAGTGTCCTCACCTGACACCCACCTACCACCTTACTCACCCCCCCGGACCGTGCCCTCTCCCACCTTGGGCCATTCGTGGGCCCCAGAGTGGCACAGAGCCCCTCAGCCCGACACCCTGAGGACTGAC
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CCCCTTGAGCTGGCGCAGGCCAGGACATACTGACACACCGAGGTCTCCCTGTGGCCTCTGCTTGGGACAAAACCTCTCACCCCATCCAGTCTCATCCACGAGGGCTAGGACCTTTCAAACCAGGTTGTGGGGGGTGCTGTGCTGGGGCAAAAAAAAATGCGGAAAATAGGCTGTCTCCCCATGGGAGCTGCAAGTCCAAAGCAGTGCCCTCTGCAGAGGGAGTGGACAGGGCATGGATCAGTTAGTGATACCTTATTATTATATTATGCCTTGTACCCCATATATGTGCATATGACATGGAGCCAAGATGAGGGCAGAGGCTGAGCTGGGTTTTGAGGGCTGGAGCCCCAAGGGGAAGCTGTTAGGGCACCACATGGCAGAGTGTGGCTCTGTCACCAAGTGGACCAAGTGCCCAGTGTCAGGGGTTCAGGGCAATGGTGGGGTAAGCTGGGGGTCATCGAGGATGAGGGGGGAATGACCTTGTGGACAGCAGCCACAGTCCTGCACACTGTCCCCCTCTGTGCCCACAGGTCTGCCCGCTGTCTTCGTGGCTGTGTGGGTCAGTGTCAGAGCTACCCTGGCCAACACCGGGTAGGTCCAGGTGGAGAAGGGGCCCAGGCAAGAAGCACCCCTGGGTCCCTTTTCTTCCAGGAAGCATGTGAGAGGGCCTCCTGTACCCTGGCCTCAAACGGCCCAGCCTCAGGAGTTCTCAGTCCAGCCTCAAGCCAGGAGCACCCTCAGGGTCACAGGAGGCTACTTCCAAAGAGGCCTGTGAGGGAGGCCTCAGGCCTGGCCACACCCAGCACCCCTGCCCTGTGTCCTCAACAGCTAATGTCAGACCAGACCAAATCTGGGTCTCTGTGGGCAGTCTTAGGATGGGAACAGGAGGGATGGGAGCTAATGCCTCAACCTCCCCCAGGTGCTGGGACTTGAGCTCCGGGAACAAAAAGTGGATCATCCAGGTGCCCATCCTGGCCTCCATTGTGGTGAGCAGGGGTGGGCTGCTGGCCACAGGGGTGGGTGGGATGTGCGCCTGCGTCCCCTGGAACCAGCCCCTGACAGGGACCTAGGAGGCTTCCCTGGACCCCAGTGTCAGAGCTACAGAGGCCGGAGGACCAGCTGATCCACACTCCAGCCCAGAAAGGAAAACCAAGGGCTCAAGGAGCCACCCAGAGATGCAGTGACAGAGCAGAGCCTATGGCCGTGGCTGCCAGGCCTTGCCCCGCCCCACTAGGGTGCAGCCTCCAGACGCAGCCCCCTCACTCCCACAGCTCAACTTCATCCTCTTCATCAATATCGTCCGGGTGCTCGCCACCAAGCTGCGGGAGACCAACGCCGGCCGGTGTGACACACGGCAGCAGTACCGGTGAGCCCACCATGCCTGCCATGCCCTGGCTCCTCAGGGGTCCCTGAGTCCTGGTACCATGTACCCCAGGAAAGACAGTGGCCCCATGAATGATCCTGGGGCAAGGGAAAGGACCCAGCGTCTGACTCCCTGGCTGTCCTCACCCACCTGGCCTGCCCAGCAGTGATGGGAGGCCCTAGGGCACCCCAAAGCCAGCCTGCCCACTTGTACCAGGCCCTGCACTAGAGCTGGAGTCTGTGAGTGTGCAACGAACTTGAACCTCTCCTCAAAGAGTTGGTTGCAGGGGGTCTGAGGAACAGGTAGGCGGTGAGTGGCCCCGGGAAGGCTGCAGCTCAGCTGAAACCTGAGGAGCGGACTGTGGGATAGTGAGGTTCGACCGTGGAGGGGAGTGCTTGCCAGCTGAGGGCTCCACAGGTGCGAAGGGCCCAGGGACAGGGGGACTGTCATTTGAAGTCCGCTCCGGGACACCGCTGAGAACCAACGGGCCCTATTAGCACTTAGCCAGGACAGCAGCCATGCAGGTGAACTGGGTTGTCCTCCCATGGTGACTGGAGCCCTGGGCCCCTTTGAGCTTCCGGAGCCTGGGGCTCGCAGGGTGGGGGGTGGCACAATGCTTGTTGAAGGGGAAGTGGCTTGGCCCTGACCTACCTGCCCCGCTGGCCCAGGAAGCTGCTCAAATCCAGGCTGGTGCTCATGCCCCTCTTTGGCGTCCACTACATTGTCTTCATGGCCACACCATACACCGAGGTCTCAGGGACGCTCTGGCAAGTCCAGATGCACTATGAGATGCTCTTCAACTCCTTCCAGGTGCGCAGTGCTGGCCCGGGCCTGGCTGAGGGTGGGAGGGGTTCCGGGGGCAGGCCTGATTCGAGACACCCCTCTTCACAGGGATTTTTTGTCGCAATCATATACTGTTTCTGCAATGGCGAGGTAAGCAGGAGACAGTGTTGGCATAGGGCAGGGTGGGGCAGATACCCCAGAGGCTTCCTCAAGGCTCATTTCTCCATTCTTCCACCCTGTTATTTCTTTGTTCCTCCAAGAACACCCCTGAGGACATTCTGAAAGCAGAGAAGTCTTTCCAGATGATGCAGGTTCAGGATGTGCTAGGATGTGGGGACTCTTCAGTCACTGGCATAGCCAAGTGTCTTCCCAGCCCCATGGTTCAATTATCTGTGACCCAGATTGGAGGACTCAGCCACCTTTGGGGCAATTTGAGCCTTGTAGATTCTGGGTGTGTCGGCTGCCTGTAGCCAAACACCCTGTTGTGAGGATGGGATTTCACTTGGCCTTGGAGTTTCCCAGGAGTCCCCTATTCCCATTTTCATTCCGTGCTGGGTGTCCAGGGGCCGGGATGGGGCATCGCTGGGGTTGGGAGACACACCTGACTGCCGCACCCTTACTGCCCCAAGGTACAAGCTGAGATCAAGAAATCTTGGAGCCGCTGGACACTGGCACTGGACTTCAAGCGAAAGGCACGCAGCGGGAGCAGCAGCTATAGCTACGGCCCCATGGTGTCCCACACAAGTGTGACCAATGTCGGCCCCCGTGTGGGACTCGGCCTGCCCCTCAGCCCCCGCCTACTGCCCACTGCCACCACCAACGGCCACCCTCAGCTGCCTGGCCATGCCAAGCCAGGGACCCCAGCCCTGGAGACCCTCGAGACCACACCACCTGCCATGGCTGCTCCCAAGGACGATGGGTTCCTCAACGGCTCCTGCTCAGGCCTGGACGAGGAGGCCTCTGGGCCTGAGCGGCCACCTGCCCTGCTACAGGAAGAGTGGGAGACAGTCATGTGACCAGGCGCTGGGGGCTGGACCTGCTGACATAGTGGATGGACAGATGGACCAAAAGATGGGTGGTTGAATGATTTCCCACTCAGGGCTGGGGCCAAGAGGAAAAACAGGGAAAAAAAGAAAAAAAAAAGAAAAAGGAAAAGGAAGCGGTGTGTGGCTTCCTGTGGCCCAAACTGGGGACTCACTCCGAGAGGGTGGGGCTGGGAGCCAGGGAAAGCTGTGGCGGGAGGGCCATGAGTCATGGAGGAATCCTCAGGTCTCACTTCAGAATGGGGAGGGATCTGGGGCCTGTGGTATCCAGCAGAAAGGGCCCAGAGTGGCTCAAGTCTGCAGGGGTCACACAGCAGCCAAGTGGACCCATGTGGAAATCCAGCCTCAGCCTCCGTTGCTGCCAGCTGTGGAGCTGCTCTCCACACTTGTACCTAGACCCCATGGGGGACCCAGGCTCCTCTGGGCCAACTCTTCTGACTGCTGCCCCCATCACTGCCACCCAGGGCTGCTGGCAGATCCCTCGGGTCCCTGGCCACACCCCCAAGCCTACGGCCCTGCCACAGAATGGACCTTTCCTGGCTGTCCAGTGGCCACTCAGGGAGCCCTCCACGCAGGAGCCTTAGCATCCACCCGTGACCTGACATGCCTCTGTGACTGAGGTTGCAGTAGGAGCACCAGGCCAGCAGGTGAAGGGTGGGCTGGGTCCCTGCTCTGGCTCAGGACTTGTGGGGAGCCAGGAGTCTGAGCCCAGAGGGCTGGCTGGGCAGGGGCCTGCAAGGTGGGACACATCCATTCACTATGCATCTGGGACAGTCACTAAGTGTCCTCACCTGACACCCACCTACCACCTTACTCACCCCCCCGGACCGTGCCCTCTCCCACCTTGGGCCATTCGTGGGCCCCAGAGTGGCACAGAGCCCCTCAGCCCGACACCCTGAGGACTGAC
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Task1_train_6717
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This alteration occurs within gene PTH1R (parathyroid hormone 1 receptor) located on Chromosome 3. Is it associated with a disease or is it a benign variant?
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Pathogenic; Metaphyseal chondrodysplasia, Jansen type
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ACAGGGCATGGATCAGTTAGTGATACCTTATTATTATATTATGCCTTGTACCCCATATATGTGCATATGACATGGAGCCAAGATGAGGGCAGAGGCTGAGCTGGGTTTTGAGGGCTGGAGCCCCAAGGGGAAGCTGTTAGGGCACCACATGGCAGAGTGTGGCTCTGTCACCAAGTGGACCAAGTGCCCAGTGTCAGGGGTTCAGGGCAATGGTGGGGTAAGCTGGGGGTCATCGAGGATGAGGGGGGAATGACCTTGTGGACAGCAGCCACAGTCCTGCACACTGTCCCCCTCTGTGCCCACAGGTCTGCCCGCTGTCTTCGTGGCTGTGTGGGTCAGTGTCAGAGCTACCCTGGCCAACACCGGGTAGGTCCAGGTGGAGAAGGGGCCCAGGCAAGAAGCACCCCTGGGTCCCTTTTCTTCCAGGAAGCATGTGAGAGGGCCTCCTGTACCCTGGCCTCAAACGGCCCAGCCTCAGGAGTTCTCAGTCCAGCCTCAAGCCAGGAGCACCCTCAGGGTCACAGGAGGCTACTTCCAAAGAGGCCTGTGAGGGAGGCCTCAGGCCTGGCCACACCCAGCACCCCTGCCCTGTGTCCTCAACAGCTAATGTCAGACCAGACCAAATCTGGGTCTCTGTGGGCAGTCTTAGGATGGGAACAGGAGGGATGGGAGCTAATGCCTCAACCTCCCCCAGGTGCTGGGACTTGAGCTCCGGGAACAAAAAGTGGATCATCCAGGTGCCCATCCTGGCCTCCATTGTGGTGAGCAGGGGTGGGCTGCTGGCCACAGGGGTGGGTGGGATGTGCGCCTGCGTCCCCTGGAACCAGCCCCTGACAGGGACCTAGGAGGCTTCCCTGGACCCCAGTGTCAGAGCTACAGAGGCCGGAGGACCAGCTGATCCACACTCCAGCCCAGAAAGGAAAACCAAGGGCTCAAGGAGCCACCCAGAGATGCAGTGACAGAGCAGAGCCTATGGCCGTGGCTGCCAGGCCTTGCCCCGCCCCACTAGGGTGCAGCCTCCAGACGCAGCCCCCTCACTCCCACAGCTCAACTTCATCCTCTTCATCAATATCGTCCGGGTGCTCGCCACCAAGCTGCGGGAGACCAACGCCGGCCGGTGTGACACACGGCAGCAGTACCGGTGAGCCCACCATGCCTGCCATGCCCTGGCTCCTCAGGGGTCCCTGAGTCCTGGTACCATGTACCCCAGGAAAGACAGTGGCCCCATGAATGATCCTGGGGCAAGGGAAAGGACCCAGCGTCTGACTCCCTGGCTGTCCTCACCCACCTGGCCTGCCCAGCAGTGATGGGAGGCCCTAGGGCACCCCAAAGCCAGCCTGCCCACTTGTACCAGGCCCTGCACTAGAGCTGGAGTCTGTGAGTGTGCAACGAACTTGAACCTCTCCTCAAAGAGTTGGTTGCAGGGGGTCTGAGGAACAGGTAGGCGGTGAGTGGCCCCGGGAAGGCTGCAGCTCAGCTGAAACCTGAGGAGCGGACTGTGGGATAGTGAGGTTCGACCGTGGAGGGGAGTGCTTGCCAGCTGAGGGCTCCACAGGTGCGAAGGGCCCAGGGACAGGGGGACTGTCATTTGAAGTCCGCTCCGGGACACCGCTGAGAACCAACGGGCCCTATTAGCACTTAGCCAGGACAGCAGCCATGCAGGTGAACTGGGTTGTCCTCCCATGGTGACTGGAGCCCTGGGCCCCTTTGAGCTTCCGGAGCCTGGGGCTCGCAGGGTGGGGGGTGGCACAATGCTTGTTGAAGGGGAAGTGGCTTGGCCCTGACCTACCTGCCCCGCTGGCCCAGGAAGCTGCTCAAATCCACGCTGGTGCTCATGCCCCTCTTTGGCGTCCACTACATTGTCTTCATGGCCACACCATACACCGAGGTCTCAGGGACGCTCTGGCAAGTCCAGATGCACTATGAGATGCTCTTCAACTCCTTCCAGGTGCGCAGTGCTGGCCCGGGCCTGGCTGAGGGTGGGAGGGGTTCCGGGGGCAGGCCTGATTCGAGACACCCCTCTTCACAGGGATTTTTTGTCGCAATCATATACTGTTTCTGCAATGGCGAGGTAAGCAGGAGACAGTGTTGGCATAGGGCAGGGTGGGGCAGATACCCCAGAGGCTTCCTCAAGGCTCATTTCTCCATTCTTCCACCCTGTTATTTCTTTGTTCCTCCAAGAACACCCCTGAGGACATTCTGAAAGCAGAGAAGTCTTTCCAGATGATGCAGGTTCAGGATGTGCTAGGATGTGGGGACTCTTCAGTCACTGGCATAGCCAAGTGTCTTCCCAGCCCCATGGTTCAATTATCTGTGACCCAGATTGGAGGACTCAGCCACCTTTGGGGCAATTTGAGCCTTGTAGATTCTGGGTGTGTCGGCTGCCTGTAGCCAAACACCCTGTTGTGAGGATGGGATTTCACTTGGCCTTGGAGTTTCCCAGGAGTCCCCTATTCCCATTTTCATTCCGTGCTGGGTGTCCAGGGGCCGGGATGGGGCATCGCTGGGGTTGGGAGACACACCTGACTGCCGCACCCTTACTGCCCCAAGGTACAAGCTGAGATCAAGAAATCTTGGAGCCGCTGGACACTGGCACTGGACTTCAAGCGAAAGGCACGCAGCGGGAGCAGCAGCTATAGCTACGGCCCCATGGTGTCCCACACAAGTGTGACCAATGTCGGCCCCCGTGTGGGACTCGGCCTGCCCCTCAGCCCCCGCCTACTGCCCACTGCCACCACCAACGGCCACCCTCAGCTGCCTGGCCATGCCAAGCCAGGGACCCCAGCCCTGGAGACCCTCGAGACCACACCACCTGCCATGGCTGCTCCCAAGGACGATGGGTTCCTCAACGGCTCCTGCTCAGGCCTGGACGAGGAGGCCTCTGGGCCTGAGCGGCCACCTGCCCTGCTACAGGAAGAGTGGGAGACAGTCATGTGACCAGGCGCTGGGGGCTGGACCTGCTGACATAGTGGATGGACAGATGGACCAAAAGATGGGTGGTTGAATGATTTCCCACTCAGGGCTGGGGCCAAGAGGAAAAACAGGGAAAAAAAGAAAAAAAAAAGAAAAAGGAAAAGGAAGCGGTGTGTGGCTTCCTGTGGCCCAAACTGGGGACTCACTCCGAGAGGGTGGGGCTGGGAGCCAGGGAAAGCTGTGGCGGGAGGGCCATGAGTCATGGAGGAATCCTCAGGTCTCACTTCAGAATGGGGAGGGATCTGGGGCCTGTGGTATCCAGCAGAAAGGGCCCAGAGTGGCTCAAGTCTGCAGGGGTCACACAGCAGCCAAGTGGACCCATGTGGAAATCCAGCCTCAGCCTCCGTTGCTGCCAGCTGTGGAGCTGCTCTCCACACTTGTACCTAGACCCCATGGGGGACCCAGGCTCCTCTGGGCCAACTCTTCTGACTGCTGCCCCCATCACTGCCACCCAGGGCTGCTGGCAGATCCCTCGGGTCCCTGGCCACACCCCCAAGCCTACGGCCCTGCCACAGAATGGACCTTTCCTGGCTGTCCAGTGGCCACTCAGGGAGCCCTCCACGCAGGAGCCTTAGCATCCACCCGTGACCTGACATGCCTCTGTGACTGAGGTTGCAGTAGGAGCACCAGGCCAGCAGGTGAAGGGTGGGCTGGGTCCCTGCTCTGGCTCAGGACTTGTGGGGAGCCAGGAGTCTGAGCCCAGAGGGCTGGCTGGGCAGGGGCCTGCAAGGTGGGACACATCCATTCACTATGCATCTGGGACAGTCACTAAGTGTCCTCACCTGACACCCACCTACCACCTTACTCACCCCCCCGGACCGTGCCCTCTCCCACCTTGGGCCATTCGTGGGCCCCAGAGTGGCACAGAGCCCCTCAGCCCGACACCCTGAGGACTGACCCTACAGCATGCCCACCCCGGGCTCTGGCCTGAACGAGCTTCTTGCTCTTGCTCCAGCCTAAAGACAGCCCCGCACGAGCCCTGCCCTGCCTTCCCATCTCCCGCTCAGCCCGTCTTACTCTTCTCCACGGACTCGGCATCCAGGAGTGCACCTCATCTCCAGCAGCCCACACACACCCCATAGGGCATAGGGGAGGGGTCAGGAGGCCCAAGACAAAAAACTCA
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ACAGGGCATGGATCAGTTAGTGATACCTTATTATTATATTATGCCTTGTACCCCATATATGTGCATATGACATGGAGCCAAGATGAGGGCAGAGGCTGAGCTGGGTTTTGAGGGCTGGAGCCCCAAGGGGAAGCTGTTAGGGCACCACATGGCAGAGTGTGGCTCTGTCACCAAGTGGACCAAGTGCCCAGTGTCAGGGGTTCAGGGCAATGGTGGGGTAAGCTGGGGGTCATCGAGGATGAGGGGGGAATGACCTTGTGGACAGCAGCCACAGTCCTGCACACTGTCCCCCTCTGTGCCCACAGGTCTGCCCGCTGTCTTCGTGGCTGTGTGGGTCAGTGTCAGAGCTACCCTGGCCAACACCGGGTAGGTCCAGGTGGAGAAGGGGCCCAGGCAAGAAGCACCCCTGGGTCCCTTTTCTTCCAGGAAGCATGTGAGAGGGCCTCCTGTACCCTGGCCTCAAACGGCCCAGCCTCAGGAGTTCTCAGTCCAGCCTCAAGCCAGGAGCACCCTCAGGGTCACAGGAGGCTACTTCCAAAGAGGCCTGTGAGGGAGGCCTCAGGCCTGGCCACACCCAGCACCCCTGCCCTGTGTCCTCAACAGCTAATGTCAGACCAGACCAAATCTGGGTCTCTGTGGGCAGTCTTAGGATGGGAACAGGAGGGATGGGAGCTAATGCCTCAACCTCCCCCAGGTGCTGGGACTTGAGCTCCGGGAACAAAAAGTGGATCATCCAGGTGCCCATCCTGGCCTCCATTGTGGTGAGCAGGGGTGGGCTGCTGGCCACAGGGGTGGGTGGGATGTGCGCCTGCGTCCCCTGGAACCAGCCCCTGACAGGGACCTAGGAGGCTTCCCTGGACCCCAGTGTCAGAGCTACAGAGGCCGGAGGACCAGCTGATCCACACTCCAGCCCAGAAAGGAAAACCAAGGGCTCAAGGAGCCACCCAGAGATGCAGTGACAGAGCAGAGCCTATGGCCGTGGCTGCCAGGCCTTGCCCCGCCCCACTAGGGTGCAGCCTCCAGACGCAGCCCCCTCACTCCCACAGCTCAACTTCATCCTCTTCATCAATATCGTCCGGGTGCTCGCCACCAAGCTGCGGGAGACCAACGCCGGCCGGTGTGACACACGGCAGCAGTACCGGTGAGCCCACCATGCCTGCCATGCCCTGGCTCCTCAGGGGTCCCTGAGTCCTGGTACCATGTACCCCAGGAAAGACAGTGGCCCCATGAATGATCCTGGGGCAAGGGAAAGGACCCAGCGTCTGACTCCCTGGCTGTCCTCACCCACCTGGCCTGCCCAGCAGTGATGGGAGGCCCTAGGGCACCCCAAAGCCAGCCTGCCCACTTGTACCAGGCCCTGCACTAGAGCTGGAGTCTGTGAGTGTGCAACGAACTTGAACCTCTCCTCAAAGAGTTGGTTGCAGGGGGTCTGAGGAACAGGTAGGCGGTGAGTGGCCCCGGGAAGGCTGCAGCTCAGCTGAAACCTGAGGAGCGGACTGTGGGATAGTGAGGTTCGACCGTGGAGGGGAGTGCTTGCCAGCTGAGGGCTCCACAGGTGCGAAGGGCCCAGGGACAGGGGGACTGTCATTTGAAGTCCGCTCCGGGACACCGCTGAGAACCAACGGGCCCTATTAGCACTTAGCCAGGACAGCAGCCATGCAGGTGAACTGGGTTGTCCTCCCATGGTGACTGGAGCCCTGGGCCCCTTTGAGCTTCCGGAGCCTGGGGCTCGCAGGGTGGGGGGTGGCACAATGCTTGTTGAAGGGGAAGTGGCTTGGCCCTGACCTACCTGCCCCGCTGGCCCAGGAAGCTGCTCAAATCCACGCTGGTGCTCATGCCCCTCTTTGGCGTCCACTACATTGTCTTCATGGCCACACCATACACCGAGGTCTCAGGGACGCTCTGGCAAGTCCAGATGCACTATGAGATGCTCTTCAACTCCTTCCAGGTGCGCAGTGCTGGCCCGGGCCTGGCTGAGGGTGGGAGGGGTTCCGGGGGCAGGCCTGATTCGAGACACCCCTCTTCACAGGGATTTTTTGTCGCAATCAAATACTGTTTCTGCAATGGCGAGGTAAGCAGGAGACAGTGTTGGCATAGGGCAGGGTGGGGCAGATACCCCAGAGGCTTCCTCAAGGCTCATTTCTCCATTCTTCCACCCTGTTATTTCTTTGTTCCTCCAAGAACACCCCTGAGGACATTCTGAAAGCAGAGAAGTCTTTCCAGATGATGCAGGTTCAGGATGTGCTAGGATGTGGGGACTCTTCAGTCACTGGCATAGCCAAGTGTCTTCCCAGCCCCATGGTTCAATTATCTGTGACCCAGATTGGAGGACTCAGCCACCTTTGGGGCAATTTGAGCCTTGTAGATTCTGGGTGTGTCGGCTGCCTGTAGCCAAACACCCTGTTGTGAGGATGGGATTTCACTTGGCCTTGGAGTTTCCCAGGAGTCCCCTATTCCCATTTTCATTCCGTGCTGGGTGTCCAGGGGCCGGGATGGGGCATCGCTGGGGTTGGGAGACACACCTGACTGCCGCACCCTTACTGCCCCAAGGTACAAGCTGAGATCAAGAAATCTTGGAGCCGCTGGACACTGGCACTGGACTTCAAGCGAAAGGCACGCAGCGGGAGCAGCAGCTATAGCTACGGCCCCATGGTGTCCCACACAAGTGTGACCAATGTCGGCCCCCGTGTGGGACTCGGCCTGCCCCTCAGCCCCCGCCTACTGCCCACTGCCACCACCAACGGCCACCCTCAGCTGCCTGGCCATGCCAAGCCAGGGACCCCAGCCCTGGAGACCCTCGAGACCACACCACCTGCCATGGCTGCTCCCAAGGACGATGGGTTCCTCAACGGCTCCTGCTCAGGCCTGGACGAGGAGGCCTCTGGGCCTGAGCGGCCACCTGCCCTGCTACAGGAAGAGTGGGAGACAGTCATGTGACCAGGCGCTGGGGGCTGGACCTGCTGACATAGTGGATGGACAGATGGACCAAAAGATGGGTGGTTGAATGATTTCCCACTCAGGGCTGGGGCCAAGAGGAAAAACAGGGAAAAAAAGAAAAAAAAAAGAAAAAGGAAAAGGAAGCGGTGTGTGGCTTCCTGTGGCCCAAACTGGGGACTCACTCCGAGAGGGTGGGGCTGGGAGCCAGGGAAAGCTGTGGCGGGAGGGCCATGAGTCATGGAGGAATCCTCAGGTCTCACTTCAGAATGGGGAGGGATCTGGGGCCTGTGGTATCCAGCAGAAAGGGCCCAGAGTGGCTCAAGTCTGCAGGGGTCACACAGCAGCCAAGTGGACCCATGTGGAAATCCAGCCTCAGCCTCCGTTGCTGCCAGCTGTGGAGCTGCTCTCCACACTTGTACCTAGACCCCATGGGGGACCCAGGCTCCTCTGGGCCAACTCTTCTGACTGCTGCCCCCATCACTGCCACCCAGGGCTGCTGGCAGATCCCTCGGGTCCCTGGCCACACCCCCAAGCCTACGGCCCTGCCACAGAATGGACCTTTCCTGGCTGTCCAGTGGCCACTCAGGGAGCCCTCCACGCAGGAGCCTTAGCATCCACCCGTGACCTGACATGCCTCTGTGACTGAGGTTGCAGTAGGAGCACCAGGCCAGCAGGTGAAGGGTGGGCTGGGTCCCTGCTCTGGCTCAGGACTTGTGGGGAGCCAGGAGTCTGAGCCCAGAGGGCTGGCTGGGCAGGGGCCTGCAAGGTGGGACACATCCATTCACTATGCATCTGGGACAGTCACTAAGTGTCCTCACCTGACACCCACCTACCACCTTACTCACCCCCCCGGACCGTGCCCTCTCCCACCTTGGGCCATTCGTGGGCCCCAGAGTGGCACAGAGCCCCTCAGCCCGACACCCTGAGGACTGACCCTACAGCATGCCCACCCCGGGCTCTGGCCTGAACGAGCTTCTTGCTCTTGCTCCAGCCTAAAGACAGCCCCGCACGAGCCCTGCCCTGCCTTCCCATCTCCCGCTCAGCCCGTCTTACTCTTCTCCACGGACTCGGCATCCAGGAGTGCACCTCATCTCCAGCAGCCCACACACACCCCATAGGGCATAGGGGAGGGGTCAGGAGGCCCAAGACAAAAAACTCA
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Task1_train_6718
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This is a variant in PTH1R (parathyroid hormone 1 receptor), located on Chromosome 3. Is this mutation a likely cause of disease or not?
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Pathogenic; Metaphyseal chondrodysplasia, Jansen type
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ACAGGGCATGGATCAGTTAGTGATACCTTATTATTATATTATGCCTTGTACCCCATATATGTGCATATGACATGGAGCCAAGATGAGGGCAGAGGCTGAGCTGGGTTTTGAGGGCTGGAGCCCCAAGGGGAAGCTGTTAGGGCACCACATGGCAGAGTGTGGCTCTGTCACCAAGTGGACCAAGTGCCCAGTGTCAGGGGTTCAGGGCAATGGTGGGGTAAGCTGGGGGTCATCGAGGATGAGGGGGGAATGACCTTGTGGACAGCAGCCACAGTCCTGCACACTGTCCCCCTCTGTGCCCACAGGTCTGCCCGCTGTCTTCGTGGCTGTGTGGGTCAGTGTCAGAGCTACCCTGGCCAACACCGGGTAGGTCCAGGTGGAGAAGGGGCCCAGGCAAGAAGCACCCCTGGGTCCCTTTTCTTCCAGGAAGCATGTGAGAGGGCCTCCTGTACCCTGGCCTCAAACGGCCCAGCCTCAGGAGTTCTCAGTCCAGCCTCAAGCCAGGAGCACCCTCAGGGTCACAGGAGGCTACTTCCAAAGAGGCCTGTGAGGGAGGCCTCAGGCCTGGCCACACCCAGCACCCCTGCCCTGTGTCCTCAACAGCTAATGTCAGACCAGACCAAATCTGGGTCTCTGTGGGCAGTCTTAGGATGGGAACAGGAGGGATGGGAGCTAATGCCTCAACCTCCCCCAGGTGCTGGGACTTGAGCTCCGGGAACAAAAAGTGGATCATCCAGGTGCCCATCCTGGCCTCCATTGTGGTGAGCAGGGGTGGGCTGCTGGCCACAGGGGTGGGTGGGATGTGCGCCTGCGTCCCCTGGAACCAGCCCCTGACAGGGACCTAGGAGGCTTCCCTGGACCCCAGTGTCAGAGCTACAGAGGCCGGAGGACCAGCTGATCCACACTCCAGCCCAGAAAGGAAAACCAAGGGCTCAAGGAGCCACCCAGAGATGCAGTGACAGAGCAGAGCCTATGGCCGTGGCTGCCAGGCCTTGCCCCGCCCCACTAGGGTGCAGCCTCCAGACGCAGCCCCCTCACTCCCACAGCTCAACTTCATCCTCTTCATCAATATCGTCCGGGTGCTCGCCACCAAGCTGCGGGAGACCAACGCCGGCCGGTGTGACACACGGCAGCAGTACCGGTGAGCCCACCATGCCTGCCATGCCCTGGCTCCTCAGGGGTCCCTGAGTCCTGGTACCATGTACCCCAGGAAAGACAGTGGCCCCATGAATGATCCTGGGGCAAGGGAAAGGACCCAGCGTCTGACTCCCTGGCTGTCCTCACCCACCTGGCCTGCCCAGCAGTGATGGGAGGCCCTAGGGCACCCCAAAGCCAGCCTGCCCACTTGTACCAGGCCCTGCACTAGAGCTGGAGTCTGTGAGTGTGCAACGAACTTGAACCTCTCCTCAAAGAGTTGGTTGCAGGGGGTCTGAGGAACAGGTAGGCGGTGAGTGGCCCCGGGAAGGCTGCAGCTCAGCTGAAACCTGAGGAGCGGACTGTGGGATAGTGAGGTTCGACCGTGGAGGGGAGTGCTTGCCAGCTGAGGGCTCCACAGGTGCGAAGGGCCCAGGGACAGGGGGACTGTCATTTGAAGTCCGCTCCGGGACACCGCTGAGAACCAACGGGCCCTATTAGCACTTAGCCAGGACAGCAGCCATGCAGGTGAACTGGGTTGTCCTCCCATGGTGACTGGAGCCCTGGGCCCCTTTGAGCTTCCGGAGCCTGGGGCTCGCAGGGTGGGGGGTGGCACAATGCTTGTTGAAGGGGAAGTGGCTTGGCCCTGACCTACCTGCCCCGCTGGCCCAGGAAGCTGCTCAAATCCACGCTGGTGCTCATGCCCCTCTTTGGCGTCCACTACATTGTCTTCATGGCCACACCATACACCGAGGTCTCAGGGACGCTCTGGCAAGTCCAGATGCACTATGAGATGCTCTTCAACTCCTTCCAGGTGCGCAGTGCTGGCCCGGGCCTGGCTGAGGGTGGGAGGGGTTCCGGGGGCAGGCCTGATTCGAGACACCCCTCTTCACAGGGATTTTTTGTCGCAATCATATACTGTTTCTGCAATGGCGAGGTAAGCAGGAGACAGTGTTGGCATAGGGCAGGGTGGGGCAGATACCCCAGAGGCTTCCTCAAGGCTCATTTCTCCATTCTTCCACCCTGTTATTTCTTTGTTCCTCCAAGAACACCCCTGAGGACATTCTGAAAGCAGAGAAGTCTTTCCAGATGATGCAGGTTCAGGATGTGCTAGGATGTGGGGACTCTTCAGTCACTGGCATAGCCAAGTGTCTTCCCAGCCCCATGGTTCAATTATCTGTGACCCAGATTGGAGGACTCAGCCACCTTTGGGGCAATTTGAGCCTTGTAGATTCTGGGTGTGTCGGCTGCCTGTAGCCAAACACCCTGTTGTGAGGATGGGATTTCACTTGGCCTTGGAGTTTCCCAGGAGTCCCCTATTCCCATTTTCATTCCGTGCTGGGTGTCCAGGGGCCGGGATGGGGCATCGCTGGGGTTGGGAGACACACCTGACTGCCGCACCCTTACTGCCCCAAGGTACAAGCTGAGATCAAGAAATCTTGGAGCCGCTGGACACTGGCACTGGACTTCAAGCGAAAGGCACGCAGCGGGAGCAGCAGCTATAGCTACGGCCCCATGGTGTCCCACACAAGTGTGACCAATGTCGGCCCCCGTGTGGGACTCGGCCTGCCCCTCAGCCCCCGCCTACTGCCCACTGCCACCACCAACGGCCACCCTCAGCTGCCTGGCCATGCCAAGCCAGGGACCCCAGCCCTGGAGACCCTCGAGACCACACCACCTGCCATGGCTGCTCCCAAGGACGATGGGTTCCTCAACGGCTCCTGCTCAGGCCTGGACGAGGAGGCCTCTGGGCCTGAGCGGCCACCTGCCCTGCTACAGGAAGAGTGGGAGACAGTCATGTGACCAGGCGCTGGGGGCTGGACCTGCTGACATAGTGGATGGACAGATGGACCAAAAGATGGGTGGTTGAATGATTTCCCACTCAGGGCTGGGGCCAAGAGGAAAAACAGGGAAAAAAAGAAAAAAAAAAGAAAAAGGAAAAGGAAGCGGTGTGTGGCTTCCTGTGGCCCAAACTGGGGACTCACTCCGAGAGGGTGGGGCTGGGAGCCAGGGAAAGCTGTGGCGGGAGGGCCATGAGTCATGGAGGAATCCTCAGGTCTCACTTCAGAATGGGGAGGGATCTGGGGCCTGTGGTATCCAGCAGAAAGGGCCCAGAGTGGCTCAAGTCTGCAGGGGTCACACAGCAGCCAAGTGGACCCATGTGGAAATCCAGCCTCAGCCTCCGTTGCTGCCAGCTGTGGAGCTGCTCTCCACACTTGTACCTAGACCCCATGGGGGACCCAGGCTCCTCTGGGCCAACTCTTCTGACTGCTGCCCCCATCACTGCCACCCAGGGCTGCTGGCAGATCCCTCGGGTCCCTGGCCACACCCCCAAGCCTACGGCCCTGCCACAGAATGGACCTTTCCTGGCTGTCCAGTGGCCACTCAGGGAGCCCTCCACGCAGGAGCCTTAGCATCCACCCGTGACCTGACATGCCTCTGTGACTGAGGTTGCAGTAGGAGCACCAGGCCAGCAGGTGAAGGGTGGGCTGGGTCCCTGCTCTGGCTCAGGACTTGTGGGGAGCCAGGAGTCTGAGCCCAGAGGGCTGGCTGGGCAGGGGCCTGCAAGGTGGGACACATCCATTCACTATGCATCTGGGACAGTCACTAAGTGTCCTCACCTGACACCCACCTACCACCTTACTCACCCCCCCGGACCGTGCCCTCTCCCACCTTGGGCCATTCGTGGGCCCCAGAGTGGCACAGAGCCCCTCAGCCCGACACCCTGAGGACTGACCCTACAGCATGCCCACCCCGGGCTCTGGCCTGAACGAGCTTCTTGCTCTTGCTCCAGCCTAAAGACAGCCCCGCACGAGCCCTGCCCTGCCTTCCCATCTCCCGCTCAGCCCGTCTTACTCTTCTCCACGGACTCGGCATCCAGGAGTGCACCTCATCTCCAGCAGCCCACACACACCCCATAGGGCATAGGGGAGGGGTCAGGAGGCCCAAGACAAAAAACTCA
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ACAGGGCATGGATCAGTTAGTGATACCTTATTATTATATTATGCCTTGTACCCCATATATGTGCATATGACATGGAGCCAAGATGAGGGCAGAGGCTGAGCTGGGTTTTGAGGGCTGGAGCCCCAAGGGGAAGCTGTTAGGGCACCACATGGCAGAGTGTGGCTCTGTCACCAAGTGGACCAAGTGCCCAGTGTCAGGGGTTCAGGGCAATGGTGGGGTAAGCTGGGGGTCATCGAGGATGAGGGGGGAATGACCTTGTGGACAGCAGCCACAGTCCTGCACACTGTCCCCCTCTGTGCCCACAGGTCTGCCCGCTGTCTTCGTGGCTGTGTGGGTCAGTGTCAGAGCTACCCTGGCCAACACCGGGTAGGTCCAGGTGGAGAAGGGGCCCAGGCAAGAAGCACCCCTGGGTCCCTTTTCTTCCAGGAAGCATGTGAGAGGGCCTCCTGTACCCTGGCCTCAAACGGCCCAGCCTCAGGAGTTCTCAGTCCAGCCTCAAGCCAGGAGCACCCTCAGGGTCACAGGAGGCTACTTCCAAAGAGGCCTGTGAGGGAGGCCTCAGGCCTGGCCACACCCAGCACCCCTGCCCTGTGTCCTCAACAGCTAATGTCAGACCAGACCAAATCTGGGTCTCTGTGGGCAGTCTTAGGATGGGAACAGGAGGGATGGGAGCTAATGCCTCAACCTCCCCCAGGTGCTGGGACTTGAGCTCCGGGAACAAAAAGTGGATCATCCAGGTGCCCATCCTGGCCTCCATTGTGGTGAGCAGGGGTGGGCTGCTGGCCACAGGGGTGGGTGGGATGTGCGCCTGCGTCCCCTGGAACCAGCCCCTGACAGGGACCTAGGAGGCTTCCCTGGACCCCAGTGTCAGAGCTACAGAGGCCGGAGGACCAGCTGATCCACACTCCAGCCCAGAAAGGAAAACCAAGGGCTCAAGGAGCCACCCAGAGATGCAGTGACAGAGCAGAGCCTATGGCCGTGGCTGCCAGGCCTTGCCCCGCCCCACTAGGGTGCAGCCTCCAGACGCAGCCCCCTCACTCCCACAGCTCAACTTCATCCTCTTCATCAATATCGTCCGGGTGCTCGCCACCAAGCTGCGGGAGACCAACGCCGGCCGGTGTGACACACGGCAGCAGTACCGGTGAGCCCACCATGCCTGCCATGCCCTGGCTCCTCAGGGGTCCCTGAGTCCTGGTACCATGTACCCCAGGAAAGACAGTGGCCCCATGAATGATCCTGGGGCAAGGGAAAGGACCCAGCGTCTGACTCCCTGGCTGTCCTCACCCACCTGGCCTGCCCAGCAGTGATGGGAGGCCCTAGGGCACCCCAAAGCCAGCCTGCCCACTTGTACCAGGCCCTGCACTAGAGCTGGAGTCTGTGAGTGTGCAACGAACTTGAACCTCTCCTCAAAGAGTTGGTTGCAGGGGGTCTGAGGAACAGGTAGGCGGTGAGTGGCCCCGGGAAGGCTGCAGCTCAGCTGAAACCTGAGGAGCGGACTGTGGGATAGTGAGGTTCGACCGTGGAGGGGAGTGCTTGCCAGCTGAGGGCTCCACAGGTGCGAAGGGCCCAGGGACAGGGGGACTGTCATTTGAAGTCCGCTCCGGGACACCGCTGAGAACCAACGGGCCCTATTAGCACTTAGCCAGGACAGCAGCCATGCAGGTGAACTGGGTTGTCCTCCCATGGTGACTGGAGCCCTGGGCCCCTTTGAGCTTCCGGAGCCTGGGGCTCGCAGGGTGGGGGGTGGCACAATGCTTGTTGAAGGGGAAGTGGCTTGGCCCTGACCTACCTGCCCCGCTGGCCCAGGAAGCTGCTCAAATCCACGCTGGTGCTCATGCCCCTCTTTGGCGTCCACTACATTGTCTTCATGGCCACACCATACACCGAGGTCTCAGGGACGCTCTGGCAAGTCCAGATGCACTATGAGATGCTCTTCAACTCCTTCCAGGTGCGCAGTGCTGGCCCGGGCCTGGCTGAGGGTGGGAGGGGTTCCGGGGGCAGGCCTGATTCGAGACACCCCTCTTCACAGGGATTTTTTGTCGCAATCAGATACTGTTTCTGCAATGGCGAGGTAAGCAGGAGACAGTGTTGGCATAGGGCAGGGTGGGGCAGATACCCCAGAGGCTTCCTCAAGGCTCATTTCTCCATTCTTCCACCCTGTTATTTCTTTGTTCCTCCAAGAACACCCCTGAGGACATTCTGAAAGCAGAGAAGTCTTTCCAGATGATGCAGGTTCAGGATGTGCTAGGATGTGGGGACTCTTCAGTCACTGGCATAGCCAAGTGTCTTCCCAGCCCCATGGTTCAATTATCTGTGACCCAGATTGGAGGACTCAGCCACCTTTGGGGCAATTTGAGCCTTGTAGATTCTGGGTGTGTCGGCTGCCTGTAGCCAAACACCCTGTTGTGAGGATGGGATTTCACTTGGCCTTGGAGTTTCCCAGGAGTCCCCTATTCCCATTTTCATTCCGTGCTGGGTGTCCAGGGGCCGGGATGGGGCATCGCTGGGGTTGGGAGACACACCTGACTGCCGCACCCTTACTGCCCCAAGGTACAAGCTGAGATCAAGAAATCTTGGAGCCGCTGGACACTGGCACTGGACTTCAAGCGAAAGGCACGCAGCGGGAGCAGCAGCTATAGCTACGGCCCCATGGTGTCCCACACAAGTGTGACCAATGTCGGCCCCCGTGTGGGACTCGGCCTGCCCCTCAGCCCCCGCCTACTGCCCACTGCCACCACCAACGGCCACCCTCAGCTGCCTGGCCATGCCAAGCCAGGGACCCCAGCCCTGGAGACCCTCGAGACCACACCACCTGCCATGGCTGCTCCCAAGGACGATGGGTTCCTCAACGGCTCCTGCTCAGGCCTGGACGAGGAGGCCTCTGGGCCTGAGCGGCCACCTGCCCTGCTACAGGAAGAGTGGGAGACAGTCATGTGACCAGGCGCTGGGGGCTGGACCTGCTGACATAGTGGATGGACAGATGGACCAAAAGATGGGTGGTTGAATGATTTCCCACTCAGGGCTGGGGCCAAGAGGAAAAACAGGGAAAAAAAGAAAAAAAAAAGAAAAAGGAAAAGGAAGCGGTGTGTGGCTTCCTGTGGCCCAAACTGGGGACTCACTCCGAGAGGGTGGGGCTGGGAGCCAGGGAAAGCTGTGGCGGGAGGGCCATGAGTCATGGAGGAATCCTCAGGTCTCACTTCAGAATGGGGAGGGATCTGGGGCCTGTGGTATCCAGCAGAAAGGGCCCAGAGTGGCTCAAGTCTGCAGGGGTCACACAGCAGCCAAGTGGACCCATGTGGAAATCCAGCCTCAGCCTCCGTTGCTGCCAGCTGTGGAGCTGCTCTCCACACTTGTACCTAGACCCCATGGGGGACCCAGGCTCCTCTGGGCCAACTCTTCTGACTGCTGCCCCCATCACTGCCACCCAGGGCTGCTGGCAGATCCCTCGGGTCCCTGGCCACACCCCCAAGCCTACGGCCCTGCCACAGAATGGACCTTTCCTGGCTGTCCAGTGGCCACTCAGGGAGCCCTCCACGCAGGAGCCTTAGCATCCACCCGTGACCTGACATGCCTCTGTGACTGAGGTTGCAGTAGGAGCACCAGGCCAGCAGGTGAAGGGTGGGCTGGGTCCCTGCTCTGGCTCAGGACTTGTGGGGAGCCAGGAGTCTGAGCCCAGAGGGCTGGCTGGGCAGGGGCCTGCAAGGTGGGACACATCCATTCACTATGCATCTGGGACAGTCACTAAGTGTCCTCACCTGACACCCACCTACCACCTTACTCACCCCCCCGGACCGTGCCCTCTCCCACCTTGGGCCATTCGTGGGCCCCAGAGTGGCACAGAGCCCCTCAGCCCGACACCCTGAGGACTGACCCTACAGCATGCCCACCCCGGGCTCTGGCCTGAACGAGCTTCTTGCTCTTGCTCCAGCCTAAAGACAGCCCCGCACGAGCCCTGCCCTGCCTTCCCATCTCCCGCTCAGCCCGTCTTACTCTTCTCCACGGACTCGGCATCCAGGAGTGCACCTCATCTCCAGCAGCCCACACACACCCCATAGGGCATAGGGGAGGGGTCAGGAGGCCCAAGACAAAAAACTCA
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Task1_train_6719
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A change on Chromosome 3 affects gene NBEAL2 (neurobeachin like 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Gray platelet syndrome
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AACAGCAAGGTGGGTAGGGCCCAGCCTGGGGGTGAGGGTCTGGAAGCCAGAGGCTAGGGGAGCCACGCATAGGTGCCAGGCTGCTGCTGAGCAAACATGGGCTGGACAGAGTCAGTGTTTTGCAGCTGGTGGGATGGCTTGCAGTTCAGTGGGAGGGTGTGGGGCATGGACAAGGGCCCATCCCTTGGGGCCTCTATAGGACTGGGCTTGAGGCTTAGGACATCTTTGTGCCCCATGGAAGCGGGGCTTGTTATGGAAGGAAGGGAGCTGCTCTGGTGCCTTGTTTCCCTTTCCGTGGCCCCAAGTACAGGGGCTAGAGGAGGGCACCACTGCTTTCAGATGCAGTGCCTGCTCCCACCCGCTCATCCCCCCGACTGCCCATCTGAGCAGGGCACAGGGGGCTCAGCACCCTACTCTTCCCTAGTGCCGGGCAGGGCACCTGGCAGCTGCCCCTGGTCCTGCTCTAACCCCACCCTCTCCCATCTTCCTCCTCTCTTCTTTGCCTCCTCCACCCTGTGCCTCCCCACTTCCCCACAGCTGTACCTGCAGTCCCGGGCGCCCCCCGAGGGGGACAGTGACCTGGCTACCCGGTTACTGACTGAGCCCGATGTCCAAAAGGTACCATCCTGGGGCTGACCAGCTCAGACACCCCCTGGGACTCCCTCTTTGAGCTTTTCCTGCACTATAGCTGGGGAAATGAGCAGATGTGTGTAAGGCCTGGTGTGGTCTAGAAATGGGTGTGGGTCCTCCATGCTGTCTCGCCTGCCTTCCAAGTCCCCATCCTAGGGAACAGGACAGAAGGTGGTCTATCCCCTGCCTGGTGTTTGATTGGGTGTTGGGGGTCTGGCTGTGCCAAGCTGGATGGAACCTTCGAAACTCAGCCACCTACCTCATTTCTCAGAAGGGGAGACAGAAGCCCAGACACTCAAGGATTTGGCTATAGTCACAGAGAAAGGGGTCTCCCTCATGGTGCCATTTCTTTCTGTAGATTCTTGCACCCACCCTCAGCGGGTCACTGGGTGTCCCCCAGCCCCTGATGATGTGATCCCTGATTCACCTTGCATGTGGGCTGTAGGAGGCTGCAGGGTGTCAGCTGGCAGCTTCACAGCGGGCACCCTTTCTGGGGGCTCAACCTGTGGGCCCCAACCTCCATAGCCCCTACCCTGGCTCTGTCTTCATGAGGTAACCCTATGTGTTCACCGCATGTGGTCATTTTCTTAGAGCTTACACGTCTATTCATCTGCAAAGCAGGCAGGGCAAAGTGACTCCCCTCTGTTTTTACAGATGAGGACACTGAGGCCTGGAGGGGGAGGACTGATGCCTTAGGTCACTTGGGGAGTCAGGCAAAGCTGGGACCAAAGGCCCCATGGAGCCGAATATGACCTAGTCCCTGCTGAGAAACTCTCCAAGCCCTCCCAACCCCTGACCCCCTCAGGGTGGGGCAGGAGAGGCAGCAGCATGCCTCTGGCTGTCAGGTTCAGCCAGGCTGAGCCTCAGTGCCCCCACCTGGATCTAGGGGGAAGGGGCAAGGTGGGACTTAAAGGTCTCGAAGGTTCTTCTGGTTCTAACATCCTGTGATTGATTGTCCCTAAATCTCTGACCCCTGTCAATCACTGTGGGTGATGGGGCACTTGCTGGCCTGTCTGTACTCATGTGTCTAGCTTTAGGGAGACAGGTTGGGGGTAGGGCCCTAACTCCACTAGAGAAAGGGGGACTGGAGGGTGCAGTCAGAGTGTCCACCATTAATCTGTCCCAGTGAGGCCCTTCCCAGCCTTTGTTAGAGTGGGTCTTGCTGAGCTGCTCAGAGAGGGCCCTAGGTCATGATAGGGTCACAGCAGTTGGGGCAAGGAGTAGAAGGCCTGGTGCTCTGACAGAGTTGCTGATCCAGCACATGCCACATGCCTTGGGGTGCTTGGCTCTGCACCTTTTTTACTGCAGGGGGCTGCCAGCTGTGACACCCTGGCCCCTGCCTCTCCTGATGGCCCCTCCCCACCCCAAGGTCCTGGACCAAGACACAGACGCCATTGCAGTCCATGTAGTCAGAGTGCTGACCTGCATCATGAGTGACTCCCCCTCGGCCAAGGTGAGGCTGCTGCACTGCAGCTTTAGTAGGGGTGCGGGGTGGAGTTCAACTGACCATATCCCCAGAACAGGCCTGGCCGGTGGCCATAAGCATCCTGCTCCCTGGAGCAAAGCAGGCGAGCTGGGAGGTGACTGCCCTGCCCTAAAGCTCACTGGGCAGGTGTGGTCGCCAGTCTGTCCTGGGAGCTGCATCTTCTCTGTCAGGGCTGGATGGGGAATGGACACTTGTAGGCCCACCTCCATCTACAGCCTTCTGAGATGTACTCACGTCCCCCCCATCCCTCTGCAGCCCACTGCCCACCAGCACTGTCACCCAGAGGCAGAGCTACGCAAGGGAACCCCAAAACATGATGCCCCTCCAGAGTTTCCAGGGGGTCTGAGTTTGCCCTCCGGCCCATGTATGTGTTCACTTCTTCCCCATACTACCTTACACAGGAGGTGTTTAAGGAGCGCATCGGCTACCCTCACCTGCAGGAGGTTCTGCAGAGCCATGGTCCCCCCACCCATCGGCTGTTGCAAGAGCTGCTCAACATGGTGAGGGAAGGGGCTTGGGACCAGGGTCCCAAAGGCAACCAGAACTGAGTCAGGGTTACCACAGATGGTGAGCTCTCCACCCTGGGGGACCGTATTGACTGCGGCCAGTACATACTGTTACCTGTAGCCTGGCCATGTCTGTTAGTGTCACTGGAATGAGGATTCTGGCCCTGTAGGGGTCCTGGAAGCAACTGCATGTGAGCAAGCCCCAGGATTATCTTAGGAACATGCAGTTAGGGGTTAGGCCAACCCAGGCTGAAAACTAAGGTTGAGGGATTAACAATGCTGAAGGACTCTTAGTAGTAGTGACTGTCATCTGTGCCCCTCTGACTTTCCTGAGCCTCACACACAACCTGTGGGCAGGATGGAGTAGATCATGTTGCTGACTGCTGCCGTAGGCAAGTAAATGGAGCCAGAAAGTCCCACTGTTGACAGGGTGCCACAGCTGACCAGGGACTGTCATTCTCTCCACCCACAGGCTGTGGAGGGTGACCACAGCATGTGCCCACCTCCACCAATCCGCAACGAGCAGCCGGTACTGGTGCTGGCGCAGTGGCTGCCGTCATTGCCCACCGCTGAGCTGCGGCTCTTCCTAGCGCAACGCCTCAGGTGGCTCTGTGACAGCTGCCCTGCCAGCCGTGCCACCTGTGTGCAGGCAGGCCTGGTGGGCTGCCTGTTGGAGACACTCAGCACAGGGCTAGCCCTGGAGGCCCGCTGCCAAGAGCAGCTGCTGGCACTGCTACAAGCACTGGGCCGTGTATCAATAAGGCCCATGGAGCTGCGTCACCTGCTGCGCCCCCGGCCAGGATTGGACTCGGAACCAGGCGGAGCTGAGGCTGGAAAGGCCCGACACGCAGGTGCTGTCATCCGCACATTATCAGGCATGGCCAGGCACCAGGGTCCTGCACGTGCTCTGCGCTACTTTGACCTCACGCCCAGCATGGCGGGCATCATGGTACCCCCTGTACAGCGATGGCCAGGGCCTGGCTTCACCTTTCATGCCTGGCTCTGTCTGCACCCTATGGATACAGCACCTACCCCTGCCCCCACCCGACCACTCCAGCGAAAGCAGCTGTACAGGTGGGTGACTGCCAGGGGCCAGGGACCTCCTGCCAGGGTGAGCAGGAACAAGCAGACATAACTGGCTTGCCTGCCCCCAGCTTCTTTACCAGCAGCGGCTCAGGGTTTGAGGCCTTCTTCACGGCGGCCGGGACCCTGGTGGTGGCTGTGTGCACACGGAAGGAGTATTTGACCATGAGTTTGCCCGAAGTGTCCTTTGCCGACTCTGCCTGGGTGAGACCCCATCCTTCTCATGTGGCCCAGTAGAGAGAGGGGTGCTGAGTCCCAAGTATGGCCTAATGTGAGGCTTCTGTTCTAGCACTGCGTGGCTATCGTCCATGTGCCTGGGCGCCGGCCCTTCAGCCAGAACCTGGTCCATGTCTACAAAGACGGCCATCTGGTCAAGACAGCACCCCTTCGC
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AACAGCAAGGTGGGTAGGGCCCAGCCTGGGGGTGAGGGTCTGGAAGCCAGAGGCTAGGGGAGCCACGCATAGGTGCCAGGCTGCTGCTGAGCAAACATGGGCTGGACAGAGTCAGTGTTTTGCAGCTGGTGGGATGGCTTGCAGTTCAGTGGGAGGGTGTGGGGCATGGACAAGGGCCCATCCCTTGGGGCCTCTATAGGACTGGGCTTGAGGCTTAGGACATCTTTGTGCCCCATGGAAGCGGGGCTTGTTATGGAAGGAAGGGAGCTGCTCTGGTGCCTTGTTTCCCTTTCCGTGGCCCCAAGTACAGGGGCTAGAGGAGGGCACCACTGCTTTCAGATGCAGTGCCTGCTCCCACCCGCTCATCCCCCCGACTGCCCATCTGAGCAGGGCACAGGGGGCTCAGCACCCTACTCTTCCCTAGTGCCGGGCAGGGCACCTGGCAGCTGCCCCTGGTCCTGCTCTAACCCCACCCTCTCCCATCTTCCTCCTCTCTTCTTTGCCTCCTCCACCCTGTGCCTCCCCACTTCCCCACAGCTGTACCTGCAGTCCCGGGCGCCCCCCGAGGGGGACAGTGACCTGGCTACCCGGTTACTGACTGAGCCCGATGTCCAAAAGGTACCATCCTGGGGCTGACCAGCTCAGACACCCCCTGGGACTCCCTCTTTGAGCTTTTCCTGCACTATAGCTGGGGAAATGAGCAGATGTGTGTAAGGCCTGGTGTGGTCTAGAAATGGGTGTGGGTCCTCCATGCTGTCTCGCCTGCCTTCCAAGTCCCCATCCTAGGGAACAGGACAGAAGGTGGTCTATCCCCTGCCTGGTGTTTGATTGGGTGTTGGGGGTCTGGCTGTGCCAAGCTGGATGGAACCTTCGAAACTCAGCCACCTACCTCATTTCTCAGAAGGGGAGACAGAAGCCCAGACACTCAAGGATTTGGCTATAGTCACAGAGAAAGGGGTCTCCCTCATGGTGCCATTTCTTTCTGTAGATTCTTGCACCCACCCTCAGCGGGTCACTGGGTGTCCCCCAGCCCCTGATGATGTGATCCCTGATTCACCTTGCATGTGGGCTGTAGGAGGCTGCAGGGTGTCAGCTGGCAGCTTCACAGCGGGCACCCTTTCTGGGGGCTCAACCTGTGGGCCCCAACCTCCATAGCCCCTACCCTGGCTCTGTCTTCATGAGGTAACCCTATGTGTTCACCGCATGTGGTCATTTTCTTAGAGCTTACACGTCTATTCATCTGCAAAGCAGGCAGGGCAAAGTGACTCCCCTCTGTTTTTACAGATGAGGACACTGAGGCCTGGAGGGGGAGGACTGATGCCTTAGGTCACTTGGGGAGTCAGGCAAAGCTGGGACCAAAGGCCCCATGGAGCCGAATATGACCTAGTCCCTGCTGAGAAACTCTCCAAGCCCTCCCAACCCCTGACCCCCTCAGGGTGGGGCAGGAGAGGCAGCAGCATGCCTCTGGCTGTCAGGTTCAGCCAGGCTGAGCCTCAGTGCCCCCACCTGGATCTAGGGGGAAGGGGCAAGGTGGGACTTAAAGGTCTCGAAGGTTCTTCTGGTTCTAACATCCTGTGATTGATTGTCCCTAAATCTCTGACCCCTGTCAATCACTGTGGGTGATGGGGCACTTGCTGGCCTGTCTGTACTCATGTGTCTAGCTTTAGGGAGACAGGTTGGGGGTAGGGCCCTAACTCCACTAGAGAAAGGGGGACTGGAGGGTGCAGTCAGAGTGTCCACCATTAATCTGTCCCAGTGAGGCCCTTCCCAGCCTTTGTTAGAGTGGGTCTTGCTGAGCTGCTCAGAGAGGGCCCTAGGTCATGATAGGGTCACAGCAGTTGGGGCAAGGAGTAGAAGGCCTGGTGCTCTGACAGAGTTGCTGATCCAGCACATGCCACATGCCTTGGGGTGCTTGGCTCTGCACCTTTTTTACTGCAGGGGGCTGCCAGCTGTGACACCCTGGCCCCTGCCTCTCCTGATGGCCCCTCCCCACCCCAAGGTCCTGGACCAAGACACAGACGCCATTGCAGTCCATGTAGTCAGAGTGCCGACCTGCATCATGAGTGACTCCCCCTCGGCCAAGGTGAGGCTGCTGCACTGCAGCTTTAGTAGGGGTGCGGGGTGGAGTTCAACTGACCATATCCCCAGAACAGGCCTGGCCGGTGGCCATAAGCATCCTGCTCCCTGGAGCAAAGCAGGCGAGCTGGGAGGTGACTGCCCTGCCCTAAAGCTCACTGGGCAGGTGTGGTCGCCAGTCTGTCCTGGGAGCTGCATCTTCTCTGTCAGGGCTGGATGGGGAATGGACACTTGTAGGCCCACCTCCATCTACAGCCTTCTGAGATGTACTCACGTCCCCCCCATCCCTCTGCAGCCCACTGCCCACCAGCACTGTCACCCAGAGGCAGAGCTACGCAAGGGAACCCCAAAACATGATGCCCCTCCAGAGTTTCCAGGGGGTCTGAGTTTGCCCTCCGGCCCATGTATGTGTTCACTTCTTCCCCATACTACCTTACACAGGAGGTGTTTAAGGAGCGCATCGGCTACCCTCACCTGCAGGAGGTTCTGCAGAGCCATGGTCCCCCCACCCATCGGCTGTTGCAAGAGCTGCTCAACATGGTGAGGGAAGGGGCTTGGGACCAGGGTCCCAAAGGCAACCAGAACTGAGTCAGGGTTACCACAGATGGTGAGCTCTCCACCCTGGGGGACCGTATTGACTGCGGCCAGTACATACTGTTACCTGTAGCCTGGCCATGTCTGTTAGTGTCACTGGAATGAGGATTCTGGCCCTGTAGGGGTCCTGGAAGCAACTGCATGTGAGCAAGCCCCAGGATTATCTTAGGAACATGCAGTTAGGGGTTAGGCCAACCCAGGCTGAAAACTAAGGTTGAGGGATTAACAATGCTGAAGGACTCTTAGTAGTAGTGACTGTCATCTGTGCCCCTCTGACTTTCCTGAGCCTCACACACAACCTGTGGGCAGGATGGAGTAGATCATGTTGCTGACTGCTGCCGTAGGCAAGTAAATGGAGCCAGAAAGTCCCACTGTTGACAGGGTGCCACAGCTGACCAGGGACTGTCATTCTCTCCACCCACAGGCTGTGGAGGGTGACCACAGCATGTGCCCACCTCCACCAATCCGCAACGAGCAGCCGGTACTGGTGCTGGCGCAGTGGCTGCCGTCATTGCCCACCGCTGAGCTGCGGCTCTTCCTAGCGCAACGCCTCAGGTGGCTCTGTGACAGCTGCCCTGCCAGCCGTGCCACCTGTGTGCAGGCAGGCCTGGTGGGCTGCCTGTTGGAGACACTCAGCACAGGGCTAGCCCTGGAGGCCCGCTGCCAAGAGCAGCTGCTGGCACTGCTACAAGCACTGGGCCGTGTATCAATAAGGCCCATGGAGCTGCGTCACCTGCTGCGCCCCCGGCCAGGATTGGACTCGGAACCAGGCGGAGCTGAGGCTGGAAAGGCCCGACACGCAGGTGCTGTCATCCGCACATTATCAGGCATGGCCAGGCACCAGGGTCCTGCACGTGCTCTGCGCTACTTTGACCTCACGCCCAGCATGGCGGGCATCATGGTACCCCCTGTACAGCGATGGCCAGGGCCTGGCTTCACCTTTCATGCCTGGCTCTGTCTGCACCCTATGGATACAGCACCTACCCCTGCCCCCACCCGACCACTCCAGCGAAAGCAGCTGTACAGGTGGGTGACTGCCAGGGGCCAGGGACCTCCTGCCAGGGTGAGCAGGAACAAGCAGACATAACTGGCTTGCCTGCCCCCAGCTTCTTTACCAGCAGCGGCTCAGGGTTTGAGGCCTTCTTCACGGCGGCCGGGACCCTGGTGGTGGCTGTGTGCACACGGAAGGAGTATTTGACCATGAGTTTGCCCGAAGTGTCCTTTGCCGACTCTGCCTGGGTGAGACCCCATCCTTCTCATGTGGCCCAGTAGAGAGAGGGGTGCTGAGTCCCAAGTATGGCCTAATGTGAGGCTTCTGTTCTAGCACTGCGTGGCTATCGTCCATGTGCCTGGGCGCCGGCCCTTCAGCCAGAACCTGGTCCATGTCTACAAAGACGGCCATCTGGTCAAGACAGCACCCCTTCGC
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Task1_train_6720
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Gene NBEAL2 (neurobeachin like 2), found on Chromosome 3, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Gray platelet syndrome
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GAGGCCCTTCCCAGCCTTTGTTAGAGTGGGTCTTGCTGAGCTGCTCAGAGAGGGCCCTAGGTCATGATAGGGTCACAGCAGTTGGGGCAAGGAGTAGAAGGCCTGGTGCTCTGACAGAGTTGCTGATCCAGCACATGCCACATGCCTTGGGGTGCTTGGCTCTGCACCTTTTTTACTGCAGGGGGCTGCCAGCTGTGACACCCTGGCCCCTGCCTCTCCTGATGGCCCCTCCCCACCCCAAGGTCCTGGACCAAGACACAGACGCCATTGCAGTCCATGTAGTCAGAGTGCTGACCTGCATCATGAGTGACTCCCCCTCGGCCAAGGTGAGGCTGCTGCACTGCAGCTTTAGTAGGGGTGCGGGGTGGAGTTCAACTGACCATATCCCCAGAACAGGCCTGGCCGGTGGCCATAAGCATCCTGCTCCCTGGAGCAAAGCAGGCGAGCTGGGAGGTGACTGCCCTGCCCTAAAGCTCACTGGGCAGGTGTGGTCGCCAGTCTGTCCTGGGAGCTGCATCTTCTCTGTCAGGGCTGGATGGGGAATGGACACTTGTAGGCCCACCTCCATCTACAGCCTTCTGAGATGTACTCACGTCCCCCCCATCCCTCTGCAGCCCACTGCCCACCAGCACTGTCACCCAGAGGCAGAGCTACGCAAGGGAACCCCAAAACATGATGCCCCTCCAGAGTTTCCAGGGGGTCTGAGTTTGCCCTCCGGCCCATGTATGTGTTCACTTCTTCCCCATACTACCTTACACAGGAGGTGTTTAAGGAGCGCATCGGCTACCCTCACCTGCAGGAGGTTCTGCAGAGCCATGGTCCCCCCACCCATCGGCTGTTGCAAGAGCTGCTCAACATGGTGAGGGAAGGGGCTTGGGACCAGGGTCCCAAAGGCAACCAGAACTGAGTCAGGGTTACCACAGATGGTGAGCTCTCCACCCTGGGGGACCGTATTGACTGCGGCCAGTACATACTGTTACCTGTAGCCTGGCCATGTCTGTTAGTGTCACTGGAATGAGGATTCTGGCCCTGTAGGGGTCCTGGAAGCAACTGCATGTGAGCAAGCCCCAGGATTATCTTAGGAACATGCAGTTAGGGGTTAGGCCAACCCAGGCTGAAAACTAAGGTTGAGGGATTAACAATGCTGAAGGACTCTTAGTAGTAGTGACTGTCATCTGTGCCCCTCTGACTTTCCTGAGCCTCACACACAACCTGTGGGCAGGATGGAGTAGATCATGTTGCTGACTGCTGCCGTAGGCAAGTAAATGGAGCCAGAAAGTCCCACTGTTGACAGGGTGCCACAGCTGACCAGGGACTGTCATTCTCTCCACCCACAGGCTGTGGAGGGTGACCACAGCATGTGCCCACCTCCACCAATCCGCAACGAGCAGCCGGTACTGGTGCTGGCGCAGTGGCTGCCGTCATTGCCCACCGCTGAGCTGCGGCTCTTCCTAGCGCAACGCCTCAGGTGGCTCTGTGACAGCTGCCCTGCCAGCCGTGCCACCTGTGTGCAGGCAGGCCTGGTGGGCTGCCTGTTGGAGACACTCAGCACAGGGCTAGCCCTGGAGGCCCGCTGCCAAGAGCAGCTGCTGGCACTGCTACAAGCACTGGGCCGTGTATCAATAAGGCCCATGGAGCTGCGTCACCTGCTGCGCCCCCGGCCAGGATTGGACTCGGAACCAGGCGGAGCTGAGGCTGGAAAGGCCCGACACGCAGGTGCTGTCATCCGCACATTATCAGGCATGGCCAGGCACCAGGGTCCTGCACGTGCTCTGCGCTACTTTGACCTCACGCCCAGCATGGCGGGCATCATGGTACCCCCTGTACAGCGATGGCCAGGGCCTGGCTTCACCTTTCATGCCTGGCTCTGTCTGCACCCTATGGATACAGCACCTACCCCTGCCCCCACCCGACCACTCCAGCGAAAGCAGCTGTACAGGTGGGTGACTGCCAGGGGCCAGGGACCTCCTGCCAGGGTGAGCAGGAACAAGCAGACATAACTGGCTTGCCTGCCCCCAGCTTCTTTACCAGCAGCGGCTCAGGGTTTGAGGCCTTCTTCACGGCGGCCGGGACCCTGGTGGTGGCTGTGTGCACACGGAAGGAGTATTTGACCATGAGTTTGCCCGAAGTGTCCTTTGCCGACTCTGCCTGGGTGAGACCCCATCCTTCTCATGTGGCCCAGTAGAGAGAGGGGTGCTGAGTCCCAAGTATGGCCTAATGTGAGGCTTCTGTTCTAGCACTGCGTGGCTATCGTCCATGTGCCTGGGCGCCGGCCCTTCAGCCAGAACCTGGTCCATGTCTACAAAGACGGCCATCTGGTCAAGACAGCACCCCTTCGCTGCCCCTCCCTCAGTGAGGTGTGCCAAGCAAGGTTTGGGGAGGCCTTGGGTAGATGGGAGGACTTGGAACACAGTGGGCAGGTGTAGCCTGGAGCCCTTGTGTCCCGTGCTGCCCCACAGGCCTGACTTTAGCCACTGGGGTCCATGCAGCCATGGGGGTCACTGTGAGGAACTGGTTGTAGGCGGAGCCCCAGGTTCTGCTGTGACCTGACCGCTCCCCCAACCCCGGCCCCACAGCCTTTCTCCTCCTGCTGTATCGGCTCCGCTGGATACCGCACAACGACCACCACCACAGGGCTGCCCACACCACCAGTCCCCGCCACCCTGGCCTACACTCACCCCGCCCTCACCCGCTCCCAGTCAGTCCCAGCCTCCACAGGGCTTGGCTGGGGGTCCGGGCTGGTGGCCCCCCTGCAGGAGGGCAGCATCGACTCTACCCTCGCAGGCACCCAGGACACTCGGTGGGGCAGCCCCACATCCCTGGAGGGTGAGCTGGGGGCTGTGGCCATCTTTCACGAAGCCCTGCAGGCGACGGCTCTGAGGACCCTGTGCACCCTGGGTATGCAGCATTCTCCATCTCTGCCACAGCCCCAGGCCAGAAGCTAGGGGTCCGGGGGGAGAAGGCATCTCTGGGGGTCTCTCCTGTGGTCAGGCAGTCTCTGGATGGGGTTTGGCCAGAGGCCTAGCAAGGTCTGAAGCCCCCTGCCCACCTCCCAGGGCCCAATGAGACGGCACCCTTCAAGCCTGAGGGGGAGCTGCATGAGCTCAGCACCAGGCTGCTCCTCCATTACTCACCTCAGGTATTTGGGGGCCCCAGGGGAGTGGTTGGCTCGACTGTGCTACTTCCCCGGCTCCCACACTCTGCCTGCCACCCCCTCCTCCCTCTGACCCTGGCTGCCTGCCCATTCCCCTATCCCTAGGCTTGTAAGAACAACATCTGCCTGGACCTGTCCCCCAGTCATGGGCTTGATGGGCGCCTGACGGGCCACAGAGTGGAGACCTGGGATGTGAAGGTCTGTGAGCACGTGTGGGTGGTGTGTGCAGGAGGCATGAATATGGGGCACATGTGTGTTCGGAGTCAGCTGGGGAGCAGCGCTGTGCCTGGGGAGGATTTGGACAGTCCAGCTCAAGAGAGCAAAACTTCCTTTCTGGGTGGTCTGCTGGGGTGGAGTAGGGCAGGAAACTGGCTGGAAGGTCCCCCTCACTGCCATCCTCCTTCCCCCAGGATGTGGTGAACTGCGTTGGGGGTATGGGTGCCCTGCTGCCCCTGCTGGAGCGAGTAGCTGCACAGCCCAAAGAGGCTGAAGCAGGTCCAGCTGAAACGCATGACCTCGTGGGTCCTGAACTGACCTCTGGTCACAACACCCAGGGCCTGGTTCTCCCATTGGGTAAATCTTCAGGTAAGTGTTCCTGGTGCCTATGTTGTGGAGAGGGAATCTTGGCATGGTAGGGGGGTGGAATGCCCAAGGTCTCCTGGCCACTGGCAGGCCCTTGACACACATCTGTCCCCTTCCTGATGGCTGGCAGAGGAACGGATGGAGAGGAACGCAGTGGCTGCTTTTCTGCTGATGCTGCGGAACTTCCTTCAGGGTCACATGGTGAACCAAGAGAGCCTGGTGCAGTGCCAGGGGCCTGCCATCATCGGGGCCCTCCTGCGAAAGGTGGGGCCCGGTGGGACAGGCATGGGGGTTAGGGGTATGGTCAGCCTGTCTGACCGAGGGGACTGAGTGGGGAACCCTGTCAGTCATGAAGAACCT
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GAGGCCCTTCCCAGCCTTTGTTAGAGTGGGTCTTGCTGAGCTGCTCAGAGAGGGCCCTAGGTCATGATAGGGTCACAGCAGTTGGGGCAAGGAGTAGAAGGCCTGGTGCTCTGACAGAGTTGCTGATCCAGCACATGCCACATGCCTTGGGGTGCTTGGCTCTGCACCTTTTTTACTGCAGGGGGCTGCCAGCTGTGACACCCTGGCCCCTGCCTCTCCTGATGGCCCCTCCCCACCCCAAGGTCCTGGACCAAGACACAGACGCCATTGCAGTCCATGTAGTCAGAGTGCTGACCTGCATCATGAGTGACTCCCCCTCGGCCAAGGTGAGGCTGCTGCACTGCAGCTTTAGTAGGGGTGCGGGGTGGAGTTCAACTGACCATATCCCCAGAACAGGCCTGGCCGGTGGCCATAAGCATCCTGCTCCCTGGAGCAAAGCAGGCGAGCTGGGAGGTGACTGCCCTGCCCTAAAGCTCACTGGGCAGGTGTGGTCGCCAGTCTGTCCTGGGAGCTGCATCTTCTCTGTCAGGGCTGGATGGGGAATGGACACTTGTAGGCCCACCTCCATCTACAGCCTTCTGAGATGTACTCACGTCCCCCCCATCCCTCTGCAGCCCACTGCCCACCAGCACTGTCACCCAGAGGCAGAGCTACGCAAGGGAACCCCAAAACATGATGCCCCTCCAGAGTTTCCAGGGGGTCTGAGTTTGCCCTCCGGCCCATGTATGTGTTCACTTCTTCCCCATACTACCTTACACAGGAGGTGTTTAAGGAGCGCATCGGCTACCCTCACCTGCAGGAGGTTCTGCAGAGCCATGGTCCCCCCACCCATCGGCTGTTGCAAGAGCTGCTCAACATGGTGAGGGAAGGGGCTTGGGACCAGGGTCCCAAAGGCAACCAGAACTGAGTCAGGGTTACCACAGATGGTGAGCTCTCCACCCTGGGGGACCGTATTGACTGCGGCCAGTACATACTGTTACCTGTAGCCTGGCCATGTCTGTTAGTGTCACTGGAATGAGGATTCTGGCCCTGTAGGGGTCCTGGAAGCAACTGCATGTGAGCAAGCCCCAGGATTATCTTAGGAACATGCAGTTAGGGGTTAGGCCAACCCAGGCTGAAAACTAAGGTTGAGGGATTAACAATGCTGAAGGACTCTTAGTAGTAGTGACTGTCATCTGTGCCCCTCTGACTTTCCTGAGCCTCACACACAACCTGTGGGCAGGATGGAGTAGATCATGTTGCTGACTGCTGCCGTAGGCAAGTAAATGGAGCCAGAAAGTCCCACTGTTGACAGGGTGCCACAGCTGACCAGGGACTGTCATTCTCTCCACCCACAGGCTGTGGAGGGTGACCACAGCATGTGCCCACCTCCACCAATCCGCAACGAGCAGCCGGTACTGGTGCTGGCGCAGTGGCTGCCGTCATTGCCCACCGCTGAGCTGCGGCTCTTCCTAGCGCAACGCCTCAGGTGGCTCTGTGACAGCTGCCCTGCCAGCCGTGCCACCTGTGTGCAGGCAGGCCTGGTGGGCTGCCTGTTGGAGACACTCAGCACAGGGCTAGCCCTGGAGGCCCGCTGCCAAGAGCAGCTGCTGGCACTGCTACAAGCACTGGGCCGTGTATCAATAAGGCCCATGGAGCTGCGTCACCTGCTGCGCCCCCGGCCAGGATTGGACTCGGAACCAGGCGGAGCTGAGGCTGGAAAGGCCCGACACGCAGGTGCTGTCATCCGCACATTATCAGGCATGGCCAGGCACCAGGGTCCTGCACGTGCTCTGCGCTACTTTGACCTCACGCCCAGCATGGCGGGCATCATGGTACCCCCTGTACAGCGATGGCCAGGGCCTGGCTTCACCTTTCATGCCTGGCTCTGTCTGCACCCTATGGATACAGCACCTACCCCTGCCCCCACCCGACCACTCCAGCGAAAGCAGCTGTACAGGTGGGTGACTGCCAGGGGCCAGGGACCTCCTGCCAGGGTGAGCAGGAACAAGCAGACATAACTGGCTTGCCTGCCCCCAGCTTCTTTACCAGCAGCGGCTCAGGGTTTGTGGCCTTCTTCACGGCGGCCGGGACCCTGGTGGTGGCTGTGTGCACACGGAAGGAGTATTTGACCATGAGTTTGCCCGAAGTGTCCTTTGCCGACTCTGCCTGGGTGAGACCCCATCCTTCTCATGTGGCCCAGTAGAGAGAGGGGTGCTGAGTCCCAAGTATGGCCTAATGTGAGGCTTCTGTTCTAGCACTGCGTGGCTATCGTCCATGTGCCTGGGCGCCGGCCCTTCAGCCAGAACCTGGTCCATGTCTACAAAGACGGCCATCTGGTCAAGACAGCACCCCTTCGCTGCCCCTCCCTCAGTGAGGTGTGCCAAGCAAGGTTTGGGGAGGCCTTGGGTAGATGGGAGGACTTGGAACACAGTGGGCAGGTGTAGCCTGGAGCCCTTGTGTCCCGTGCTGCCCCACAGGCCTGACTTTAGCCACTGGGGTCCATGCAGCCATGGGGGTCACTGTGAGGAACTGGTTGTAGGCGGAGCCCCAGGTTCTGCTGTGACCTGACCGCTCCCCCAACCCCGGCCCCACAGCCTTTCTCCTCCTGCTGTATCGGCTCCGCTGGATACCGCACAACGACCACCACCACAGGGCTGCCCACACCACCAGTCCCCGCCACCCTGGCCTACACTCACCCCGCCCTCACCCGCTCCCAGTCAGTCCCAGCCTCCACAGGGCTTGGCTGGGGGTCCGGGCTGGTGGCCCCCCTGCAGGAGGGCAGCATCGACTCTACCCTCGCAGGCACCCAGGACACTCGGTGGGGCAGCCCCACATCCCTGGAGGGTGAGCTGGGGGCTGTGGCCATCTTTCACGAAGCCCTGCAGGCGACGGCTCTGAGGACCCTGTGCACCCTGGGTATGCAGCATTCTCCATCTCTGCCACAGCCCCAGGCCAGAAGCTAGGGGTCCGGGGGGAGAAGGCATCTCTGGGGGTCTCTCCTGTGGTCAGGCAGTCTCTGGATGGGGTTTGGCCAGAGGCCTAGCAAGGTCTGAAGCCCCCTGCCCACCTCCCAGGGCCCAATGAGACGGCACCCTTCAAGCCTGAGGGGGAGCTGCATGAGCTCAGCACCAGGCTGCTCCTCCATTACTCACCTCAGGTATTTGGGGGCCCCAGGGGAGTGGTTGGCTCGACTGTGCTACTTCCCCGGCTCCCACACTCTGCCTGCCACCCCCTCCTCCCTCTGACCCTGGCTGCCTGCCCATTCCCCTATCCCTAGGCTTGTAAGAACAACATCTGCCTGGACCTGTCCCCCAGTCATGGGCTTGATGGGCGCCTGACGGGCCACAGAGTGGAGACCTGGGATGTGAAGGTCTGTGAGCACGTGTGGGTGGTGTGTGCAGGAGGCATGAATATGGGGCACATGTGTGTTCGGAGTCAGCTGGGGAGCAGCGCTGTGCCTGGGGAGGATTTGGACAGTCCAGCTCAAGAGAGCAAAACTTCCTTTCTGGGTGGTCTGCTGGGGTGGAGTAGGGCAGGAAACTGGCTGGAAGGTCCCCCTCACTGCCATCCTCCTTCCCCCAGGATGTGGTGAACTGCGTTGGGGGTATGGGTGCCCTGCTGCCCCTGCTGGAGCGAGTAGCTGCACAGCCCAAAGAGGCTGAAGCAGGTCCAGCTGAAACGCATGACCTCGTGGGTCCTGAACTGACCTCTGGTCACAACACCCAGGGCCTGGTTCTCCCATTGGGTAAATCTTCAGGTAAGTGTTCCTGGTGCCTATGTTGTGGAGAGGGAATCTTGGCATGGTAGGGGGGTGGAATGCCCAAGGTCTCCTGGCCACTGGCAGGCCCTTGACACACATCTGTCCCCTTCCTGATGGCTGGCAGAGGAACGGATGGAGAGGAACGCAGTGGCTGCTTTTCTGCTGATGCTGCGGAACTTCCTTCAGGGTCACATGGTGAACCAAGAGAGCCTGGTGCAGTGCCAGGGGCCTGCCATCATCGGGGCCCTCCTGCGAAAGGTGGGGCCCGGTGGGACAGGCATGGGGGTTAGGGGTATGGTCAGCCTGTCTGACCGAGGGGACTGAGTGGGGAACCCTGTCAGTCATGAAGAACCT
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Task1_train_6721
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A mutation in NBEAL2 (neurobeachin like 2), located on Chromosome 3, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Gray platelet syndrome
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CGACCCATGACCTGGGGGACATTCTGCAGGGACACTCCCATCCCCCGCTGGAAACTGTCCAGCGCCGAGACATATTCACGCATGCGTCTGAAGCTGGTGCCCAACCATCACTTCGACCCTCACCTGGAAGCCAGCGCTCTCCGAGACAATCTGGGTGAGGGAGTGTGCTGAGATGGGTCCACCCAACTCGATTGTCCCGTCTCCTGTCCTGCCTTGCTTCTGCTGAGTACCCTTGGCCCCTTGCAGGTGAGGTTCCCCTGACACCCACCGAGGAGGCCTCACTGCCTCTGGCAGTGACCAAAGAGGCCAAAGTGAGCACCCCACCCGAGTTGCTGCAGGAGGACCAGCTCGGCGAGGACGAGCTGGCTGAGCTGGAGACCCCGTGAGTGGGGCCCTGGAGAGATTGGACTGGTGTGGTGGGCAAGGGGTCTGCTCCAGTGTGTGCATGCCTCTGTGGGATCAACTCCCTGAGTGTGTCCTCTTCTGCTGCCCGACTACGTCCCCCTGAAGGGACTGTCCAAAGCCAGATGGTGAGTGGGAGAGTCTCCTAACAGGGCTGAGAGTTGCTCTTTTAACAGCCAGGCACCTGAGGACAGCACTGAGAAACACAAACCAGAGCAGGAAGGGGGCCCAGGGAGTGGGCAGGGGCTGGGTGAGGGGAGCAGGGGACAAGGGTTGGCATCCTGGCAAAATATTCAGAAGCCCAGTGGGTGGCAGGTGGGGGACAGGGGCTGGGACCAGTAGGTTCTGGACCCTAGGCAGCCCCTCCCCATCTCTGGGAGTCATGAGAGTATATACCCCATGACTCAATGGCACTTGGATGCCCTTTGGGCTTGTGAAGAAGGGGGTCCCAGAGCCTACAGCGTGAGGTGGGTTGCTGGTCTTTAGGATGGAGGCAGCAGAACTGGATGAGCAGCGTGAGAAGCTGGTGCTGTCGGCCGAGTGCCAGCTGGTGACGGTAGTGGCCGTGGTCCCAGGGCTGCTGGAGGTCACCACACAGAATGTATACTTCTACGATGGCAGCACTGAGCGCGTGGAAACCGAGGAGGGTGCGTCCTGGTGGTGTGGTTTAGGAGGATGGCAGGGAATGGCTGAGCTCTGGGTGGGGCTGGGGTGAGTGACTCCCGTACCTGCTGTTCCTCCCCATAGGCATCGGCTATGATTTCCGGCGCCCACTGGCCCAGCTGCGTGAGGTCCACCTGCGGCGTTTCAACCTGCGCCGTTCAGCACTTGAGCTCTTCTTTATCGATCAGGCCAACTACTTCCTCAACTTCCCATGCAAGGTGGGCACGACCCCAGTCTCATCTCCTAGCCAGACTCCCAGACCCCAGCCTGGCCCCATCCCACCCCATACCCAGGTACGGAACCAGGTGTACTCGTGGCTCCTGCGCCTACGGCCCCCCTCTCAAGGCTACCTAAGCAGCCGCTCCCCCCAGGAGATGCTGCGTGCCTCAGGCCTTACCCAGGTGAGAGCCCTGGGTGTGAGGGATGTGAAGTCGGGACCCTGAATCACGGGGCAGTGCTGGACAGCCCACCTGGCTCACATCTTGTCTGCCCCTGTCCCCAGAAATGGGTACAGCGTGAGATATCCAACTTCGAGTACTTGATGCAACTCAACACCATTGCGGGGCGGACCTACAATGACCTGTCTCAGTACCCTGTGGTGAGGGTCCCACTCTGCACCCCTCCACCCCTGCCCCTCTGACCTGTCAGCCCTTGGTTCCCCCAAGTGTAGGTACCTGCCAGTGGGCCAAGCTCTGAGCTTGGTCAAGGGTAGATGTGCCAATGAAGACCTGGCCTCTGTTCCCTGCCAACCCCCAGAGGTCCCCAGCCTCACTCCCTTCCCCTCCCTGCCTAGCCTCTATTCCTCAAAAGGAATCCTGTTCCAGGACACTCTGTCCTTCTCCCCTGTGACCCCTCTAAGTGGTGCTCCCCCAACCTGTGGGCAGGCTCTGTGCCCGCCTTCTTGAGGGTGTGGGCAGGGCAGGGTGGGCTGGTAGGCCATCAGGGCCCTCATGCAGCCCCTGCTCGGGTGGGTGGCCAGTTCCCCTGGGTCCTGCAGGACTACGTGTCCCCAACCCTGGACCTCAGCAACCCAGCCGTCTTCCGGGACCTGTCTAAGCCCATCGGTGTGGTGAACCCCAAGCATGCCCAGCTCGTGAGGGAGAAGTGAGCATGTGGGCAGGGCTGGGCTCAGCGGGTAGGGAAAGGCGAGGGGAGGGCTTCTGCTGACACGTCCAACTGTGGCCCCAGGTATGAAAGCTTTGAGGACCCAGCAGGGACCATTGACAAGTTCCACTATGGCACCCACTACTCCAATGCAGCAGGCGTGATGCACTACCTCATCCGCGTGGAGCCCTTCACCTCCCTGCACGTCCAGCTGCAAAGTGGCCGGTGCGGCCCAGGGGCTGGTGGGCAGACTAGGGGGCAGATAAGGGGAGGAGGCTGGTCCTCCCCACATCCTGGGCCCACCCCTGGCTCCCTTCTTCCCTCCAGCCACAGCATCTCCCTCCCTGTCTCCATTCTCCCCACCTCACCTTGGCCCCGTGCCCCTCCCCCAGCTTTGACTGCTCCGACCGGCAGTTCCACTCGGTGGCGGCAGCCTGGCAGGCACGCCTGGAGAGCCCTGCCGATGTGAAGGAGCTCATCCCGGAATTCTTCTACTTTCCTGACTTCCTGGAGAACCAGAACGGTAGGTGTGAGGTGCTCACACTGGAGCGGGCAGGTGTAGGGATGGAGAGCAGATGGTGGAGTGGCCAGGGGGCAGTCGGGATGGACAGGGAGACAGCTGACCCAGTCCTCTGTGCCAGGTTTTGACCTGGGCTGTCTCCAGCTGACCAACGAGAAGGTAGGCGATGTGGTGCTACCCCCGTGGGCCAGCTCTCCTGAGGACTTCATCCAGCAGCACCGCCAGGCTCTGGTGAGGAAGGAACCACAGGCAAACGGCAGGCAGCCGGGGTTCTGAAGATCATGGGGGGTCAGCTGTCCCTGCACTGATTGCTGCCTCCCTACTCTCAGGAGTCGGAGTATGTGTCTGCACACCTACACGAGTGGATCGACCTCATCTTTGGCTACAAGCAGCGGGGGCCAGCCGCCGAGGAGGCCCTCAATGTCTTCTATTACTGCACCTATGAGGGTGGGCAGTGCGCTGGACTCCAGTCAGGGCCAGGACAAGATCAGGTCGGGTGGATGCAGAGGGCACGCAGGGAGCCCTGACTGCTCTGCCTGCCTTCCCAGGGGCTGTAGACCTGGACCATGTGACAGATGAGCGGGAACGGAAGGCTCTGGAGGGCATTATCAGCAACTTTGGGCAGACTCCCTGTCAGCTGCTGAAGGTAAGGCCAGCTTAGAGGATAGTGGCCAGGGATGCCCATGCCATGGTGCTGACCAGCCACTTACCCACAGGAGCCACATCCAACTCGGCTCTCAGCTGAGGAAGCAGCCCATCGCCTTGCACGCCTGGACACTAACTCACCTAGCATCTTCCAGCACCTGGACGAACTCAAGGCATTCTTCGCAGAGGTGAAAGGAAGACAAGACCTCAACTTTATATTCTGTGAAATGGGTTTAACCCCACTGTCCTTACCAACCACGTGGGGCAGATGGGAATCCTAATCAAGGTCACTGATTTCAAGGCACCTTAGAAAATGAGCTAAACATGGGAAGAGTATGGGGGCAGGAGGGGTGCCTTCTTCATCAGGGCCAGGATAAAGTGTCGACTCAACAAGCTCTGAAAGCCTTAGGGAGATCAGGAGGGAGATCTGTCCTTGGACCCCTTCCATCGCCTTCCTAGACAGGAACATTCCTGAATGTTGCCCCCAGGCCTGACTTTTTTTTTAGGTTTCCCTCTCTTCCTGCCTTTGGGCTAGGGGGACAAGGAATAACAGGGTGAGAGGACCAAGTTGAAACTAAGTGTGATACTCTGGAAGCATCTTCCATGTCTGTCCCAGCTTCTCACCCACTTTCTGAGATGCCCTCCTAAAGTCTCTGCCTGTTTCTTGGAGGGAACCTCTGCATCTGTGACACCTACTCTATGACCCCTGGGGACTGACAGTAAAGGAAGGGATGATGCTTCAGGGAGCAGATAGTGTAATCT
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CGACCCATGACCTGGGGGACATTCTGCAGGGACACTCCCATCCCCCGCTGGAAACTGTCCAGCGCCGAGACATATTCACGCATGCGTCTGAAGCTGGTGCCCAACCATCACTTCGACCCTCACCTGGAAGCCAGCGCTCTCCGAGACAATCTGGGTGAGGGAGTGTGCTGAGATGGGTCCACCCAACTCGATTGTCCCGTCTCCTGTCCTGCCTTGCTTCTGCTGAGTACCCTTGGCCCCTTGCAGGTGAGGTTCCCCTGACACCCACCGAGGAGGCCTCACTGCCTCTGGCAGTGACCAAAGAGGCCAAAGTGAGCACCCCACCCGAGTTGCTGCAGGAGGACCAGCTCGGCGAGGACGAGCTGGCTGAGCTGGAGACCCCGTGAGTGGGGCCCTGGAGAGATTGGACTGGTGTGGTGGGCAAGGGGTCTGCTCCAGTGTGTGCATGCCTCTGTGGGATCAACTCCCTGAGTGTGTCCTCTTCTGCTGCCCGACTACGTCCCCCTGAAGGGACTGTCCAAAGCCAGATGGTGAGTGGGAGAGTCTCCTAACAGGGCTGAGAGTTGCTCTTTTAACAGCCAGGCACCTGAGGACAGCACTGAGAAACACAAACCAGAGCAGGAAGGGGGCCCAGGGAGTGGGCAGGGGCTGGGTGAGGGGAGCAGGGGACAAGGGTTGGCATCCTGGCAAAATATTCAGAAGCCCAGTGGGTGGCAGGTGGGGGACAGGGGCTGGGACCAGTAGGTTCTGGACCCTAGGCAGCCCCTCCCCATCTCTGGGAGTCATGAGAGTATATACCCCATGACTCAATGGCACTTGGATGCCCTTTGGGCTTGTGAAGAAGGGGGTCCCAGAGCCTACAGCGTGAGGTGGGTTGCTGGTCTTTAGGATGGAGGCAGCAGAACTGGATGAGCAGCGTGAGAAGCTGGTGCTGTCGGCCGAGTGCCAGCTGGTGACGGTAGTGGCCGTGGTCCCAGGGCTGCTGGAGGTCACCACACAGAATGTATACTTCTACGATGGCAGCACTGAGCGCGTGGAAACCGAGGAGGGTGCGTCCTGGTGGTGTGGTTTAGGAGGATGGCAGGGAATGGCTGAGCTCTGGGTGGGGCTGGGGTGAGTGACTCCCGTACCTGCTGTTCCTCCCCATAGGCATCGGCTATGATTTCCGGCGCCCACTGGCCCAGCTGCGTGAGGTCCACCTGCGGCGTTTCAACCTGCGCCGTTCAGCACTTGAGCTCTTCTTTATCGATCAGGCCAACTACTTCCTCAACTTCCCATGCAAGGTGGGCACGACCCCAGTCTCATCTCCTAGCCAGACTCCCAGACCCCAGCCTGGCCCCATCCCACCCCATACCCAGGTACGGAACCAGGTGTACTCGTGGCTCCTGCGCCTACGGCCCCCCTCTCAAGGCTACCTAAGCAGCCGCTCCCCCCAGGAGATGCTGCGTGCCTCAGGCCTTACCCAGGTGAGAGCCCTGGGTGTGAGGGATGTGAAGTCGGGACCCTGAATCACGGGGCAGTGCTGGACAGCCCACCTGGCTCACATCTTGTCTGCCCCTGTCCCCAGAAATGGGTACAGCGTGAGATATCCAACTTCGAGTACTTGATGCAACTCAACACCATTGCGGGGCGGACCTACAATGACCTGTCTCAGTACCCTGTGGTGAGGGTCCCACTCTGCACCCCTCCACCCCTGCCCCTCTGACCTGTCAGCCCTTGGTTCCCCCAAGTGTAGGTACCTGCCAGTGGGCCAAGCTCTGAGCTTGGTCAAGGGTAGATGTGCCAATGAAGACCTGGCCTCTGTTCCCTGCCAACCCCCAGAGGTCCCCAGCCTCACTCCCTTCCCCTCCCTGCCTAGCCTCTATTCCTCAAAAGGAATCCTGTTCCAGGACACTCTGTCCTTCTCCCCTGTGACCCCTCTAAGTGGTGCTCCCCCAACCTGTGGGCAGGCTCTGTGCCCGCCTTCTTGAGGGTGTGGGCAGGGCAGGGTGGGCTGGTAGGCCATCAGGGCCCTCATGCAGCCCCTGCTCGGGTGGGTGGCCAGTTCCTCTGGGTCCTGCAGGACTACGTGTCCCCAACCCTGGACCTCAGCAACCCAGCCGTCTTCCGGGACCTGTCTAAGCCCATCGGTGTGGTGAACCCCAAGCATGCCCAGCTCGTGAGGGAGAAGTGAGCATGTGGGCAGGGCTGGGCTCAGCGGGTAGGGAAAGGCGAGGGGAGGGCTTCTGCTGACACGTCCAACTGTGGCCCCAGGTATGAAAGCTTTGAGGACCCAGCAGGGACCATTGACAAGTTCCACTATGGCACCCACTACTCCAATGCAGCAGGCGTGATGCACTACCTCATCCGCGTGGAGCCCTTCACCTCCCTGCACGTCCAGCTGCAAAGTGGCCGGTGCGGCCCAGGGGCTGGTGGGCAGACTAGGGGGCAGATAAGGGGAGGAGGCTGGTCCTCCCCACATCCTGGGCCCACCCCTGGCTCCCTTCTTCCCTCCAGCCACAGCATCTCCCTCCCTGTCTCCATTCTCCCCACCTCACCTTGGCCCCGTGCCCCTCCCCCAGCTTTGACTGCTCCGACCGGCAGTTCCACTCGGTGGCGGCAGCCTGGCAGGCACGCCTGGAGAGCCCTGCCGATGTGAAGGAGCTCATCCCGGAATTCTTCTACTTTCCTGACTTCCTGGAGAACCAGAACGGTAGGTGTGAGGTGCTCACACTGGAGCGGGCAGGTGTAGGGATGGAGAGCAGATGGTGGAGTGGCCAGGGGGCAGTCGGGATGGACAGGGAGACAGCTGACCCAGTCCTCTGTGCCAGGTTTTGACCTGGGCTGTCTCCAGCTGACCAACGAGAAGGTAGGCGATGTGGTGCTACCCCCGTGGGCCAGCTCTCCTGAGGACTTCATCCAGCAGCACCGCCAGGCTCTGGTGAGGAAGGAACCACAGGCAAACGGCAGGCAGCCGGGGTTCTGAAGATCATGGGGGGTCAGCTGTCCCTGCACTGATTGCTGCCTCCCTACTCTCAGGAGTCGGAGTATGTGTCTGCACACCTACACGAGTGGATCGACCTCATCTTTGGCTACAAGCAGCGGGGGCCAGCCGCCGAGGAGGCCCTCAATGTCTTCTATTACTGCACCTATGAGGGTGGGCAGTGCGCTGGACTCCAGTCAGGGCCAGGACAAGATCAGGTCGGGTGGATGCAGAGGGCACGCAGGGAGCCCTGACTGCTCTGCCTGCCTTCCCAGGGGCTGTAGACCTGGACCATGTGACAGATGAGCGGGAACGGAAGGCTCTGGAGGGCATTATCAGCAACTTTGGGCAGACTCCCTGTCAGCTGCTGAAGGTAAGGCCAGCTTAGAGGATAGTGGCCAGGGATGCCCATGCCATGGTGCTGACCAGCCACTTACCCACAGGAGCCACATCCAACTCGGCTCTCAGCTGAGGAAGCAGCCCATCGCCTTGCACGCCTGGACACTAACTCACCTAGCATCTTCCAGCACCTGGACGAACTCAAGGCATTCTTCGCAGAGGTGAAAGGAAGACAAGACCTCAACTTTATATTCTGTGAAATGGGTTTAACCCCACTGTCCTTACCAACCACGTGGGGCAGATGGGAATCCTAATCAAGGTCACTGATTTCAAGGCACCTTAGAAAATGAGCTAAACATGGGAAGAGTATGGGGGCAGGAGGGGTGCCTTCTTCATCAGGGCCAGGATAAAGTGTCGACTCAACAAGCTCTGAAAGCCTTAGGGAGATCAGGAGGGAGATCTGTCCTTGGACCCCTTCCATCGCCTTCCTAGACAGGAACATTCCTGAATGTTGCCCCCAGGCCTGACTTTTTTTTTAGGTTTCCCTCTCTTCCTGCCTTTGGGCTAGGGGGACAAGGAATAACAGGGTGAGAGGACCAAGTTGAAACTAAGTGTGATACTCTGGAAGCATCTTCCATGTCTGTCCCAGCTTCTCACCCACTTTCTGAGATGCCCTCCTAAAGTCTCTGCCTGTTTCTTGGAGGGAACCTCTGCATCTGTGACACCTACTCTATGACCCCTGGGGACTGACAGTAAAGGAAGGGATGATGCTTCAGGGAGCAGATAGTGTAATCT
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Task1_train_6722
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Here is a mutation in SETD2 (SET domain containing 2, histone lysine methyltransferase) on Chromosome 3. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Luscan-Lumish syndrome
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TGGTCTACAACCCTACTTATTCTTCCTTCCATAAAAGTACAGCTATAAAGGCCTTTTCTGTGTCCATTTGTGTACTTGTCTTCATCTCCACCTTCTTAACTGAGCTTCTTTACAGGCTCCACTAGCAGCCTCCAAACACAAGAGGGACTCCTTTTAGGGACTCCTGTGCTGTCACAAAGCAGGCCTTAAATAAAAATCCATCAAGTGACTATCCCAGCACTTCTTTCAATTAACTGCAATTCTGATTCCTGCAGTTCACATACTGACTTCATAAGTAAATTTACTACGAACTCTTCCTTTCATATTTAGAAAAAGGCCTGATTTCCTAAGACATAATAAGGCTGACTTTATACTGAATTGTAAGTGATGAAAGTAACATGAGTAAGAGCTCAAATGGGTAAACAAAAGCTGAAACCACAACATACTTAAAGAAGGGTCTCAACACAGCAAATGAGGAAGCATAGTACACAACCACCAACTACTCATTTTGCTCAGTGTTTAAGGCCAGTTTCATTGGGTCAAATCACAGGATCTAATGGAGTGAGCTTTGTCATCATAATTAGGGGCAGGGAGGATTCAGGTGTTCATCTTGCTGCAAAGAGTCAGGATTGCTGGTTTATTTGGTTGCTTCATCTCCGGCAGAAGAAAGGAGGAACAGAAAAATAGAAGCTAGTTAAGTAACCTGTTCCCACAGGGTCCTCAAGACGTGGATCCCAAGTCCAGATCACTTACAAATGAAATGTACCACACCTCTCCTAGGTTTATCCTGTTATTCATTCTTGTGTTTATCCAAGACTCAGTCTGGGTTTTCTGCAAAGCAAACCCTGCACATCTTGCTACATTCTTCAACAAGAGATTATGTATGTAATAGGCATAAGAGTTCCAGATCTATTTTTCCTCTTTTGTCCAAAGAAATAGGCATTTAAAAGCAGGCCCATTTCAGAAACAATAATAGAAGTGAATACGAACTAGTTCCATAAAGTTGTTTTTCTAAAATAAAAATTTACATTCAATCATTTTTAGTAAGCTGCTAAATTATCTTAGTTTTCCAATTATTTTTAATTTTCCATTAATACAACTGATTTCCAATAAATTTAAACACTAATTTTTTCTCATTACAAATAGAATCCTAAGTTTGCTCCTCAAAGGATTTTTGTTTTTAATGTGAAGAGCACTTAAATGACTGAACTCACTATTGTGATGTACTTTTCTAAGTGACAGAAAAGAAGACATTTGTATATTAGTTTGGCTAATATGACTCTTGCCACGGTTTAGAGGATGTTTGAGACACTTATAAATAAAACAGTAAGAGAGACAGTATTCCATTTTTCAGAAATATGCATGGCTAAAAAAAGTAGTTAATTTTGCTTAGGTTTGTAGAACTCTAAACCTGAGTAATTCAAGTTGAAATGAACAAAAGATGCTTCCTTACCTTTAGGTCTTTCCAACTGTCCAGGAGTTTGGTGGCCAAATCACTTATATCCACTGTTTTATCTGGCTGTTCTTGGCTCCTTTCACTCTCCACATCAGACACACCCTCCTCTTCATCTTGGGATGGTGTTTCTTCATTAATAGGTTCTTCTAGTTTTGTGCCGTTGCTCTCTTTGGGCTCTATTTCAGCGTCAGCTTCTGGTTCAGATGTAGGTAGCTTACTAGCTTCTATGTTGGTTTCACTATCAACTTTGCATTCAGGCAGCTGTTGTGGGAGTAGCTGTTGTGACTGCAATTCTTCCTCTTCCTCTACAGGGACATTTTCTAATTGATCAAGATCCTCTTTGCCATCCTTGCCTTCTAGCTCACTGGTTGCATCAGAGATTGCACTGTCCATGCTATTTTCACTTATAATTTTCAGTCTGCGAAACATTAGTTTCTTGGGAGTGTCTGTGTCAGCTTCTGTGCTCAGCTTGGTGGAAGGATCAGGTGTGTTGAGTGGTGTATGAGCACGCGATGTATTCTCACTAGAATACCCATCTCCTTCACTCAACGGAGGGACAGCAGTCTTAGTCTGAGACCAGCGTTGAATAATTGGAAGTACTTTGCTTTCCTCCAACATATTTTTAGTAGGAATGGGCAAGTGTTCCAAAGTCTTTATAATCTGATTAAACATAAAAAAAAATTACATCACTTTGTACAGTTGACTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAATGCAATGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCGCTAGCTGCCACGCCTGGCTAATCTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAATGCTGGGATTACCAGCATGAGCCACCACACCTGGCTACAGTTGATTTTGTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGATGTGATCTTGGTCACTGCAATCTCTGGCTCCCTGGTTTAAGCGATTCTCCTGCCTCAGCCTCCCGAGGAGCTGGGATTACAGGGATGCACCACCATGCACAGCTTTTTTTTTTTTTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTAGGTGATCCACCTGCCTCAGCCTCCCAAACTGCTGGGATTACAGGCATTGAGCCACAGCGCCTGGCCTACAGTTGACTTTTTCAATTTCTGGATGGGACTCAGATTATTTCTGCAAGAGTAGTGCAGTTTTGCTACTGCTTTATTAAGAACTACATCTCTGTAAACACAAGCATATTTAAAAATCATAATATTGTTTTCCTTAAGAAAGAAAAACTTTTAATAAGACTGATCAGCAAGAATCACAACATCAAATAGGACTGATTAATATTCTCTACCAGTAGTTCCTAAACCTGGGTAGCTTTTTAAACATATACACTACTGGACCAATCCTGGGTATCTTTTCTTAAAAAGTTTACCAAGTGTCTGTGATATACACTTAGCAGCTATGTAACAACATATTTAAATGATGTCTGTCATACACACAAAAATGCAGACATCTCTTCAGCTTTTGATAAACAGCTGTCTAGCAAAGAGAGATCCCCTCCTCATTCTTAGACAACCTCCCCCATTTTGAAATCCAAGAATTTTTTCTGAAGTATTCCTCAATGTAGTTCCACAGAAACCCCAAGGCTTCCTCAATTTCCTCAAGCCAAATCTCCTGGGAGAAGGACAGAGGCAAGAACAAGTACTTATCTGCCCATTCCTTTTTGTTTGTTTTTAAAAGTGTTTTATTAAATAAAAGACTCTGGGATTATATTACAAATTAGAAAGTTAGAAAATTTTATTAATTTCATAGAAAGGTAAAGACATCGTAACTCCACTAATAATGCTGCCAATGAACCTTTACTTAGATCTTTTAAAACACTTATTTAAAAGATTCCTCAAAATGTTCATACTCTTGTTATGCAGAATTCAGATCTTTACCAATTCTTTAGACCCCACAGTTCAAATTTTATATGACTTCCCATCTTTTTAAAACTCTGGTTTTAACAACAAACTGGATCTTTCACTTAACTATGTTGTTGTTATTATATCTTGCTCTTGTAGTTCCCTGCTATGTAGTACCAACTTTAAAAAGATACTATAGGAAAACCATGGGACAAACTACTAACAAGGTGTATGTACGGTTAGATACGTTAAAGGAATGATACTGAGATGAAAAAATTATTTGATTATTTAATACCAATGATACAGTGCTAAATTCATAATTACTGATATTATCACATATCCACAACCGAGGCAATCAATATAACAGTTTTAAGAAACAAGCAAGCTAAATGTGAACTGACCTCTTCCTGAAGCTTCTGGTTACTTTCCCGGCCGTCACCTAGCTCTGCCATCCAGATCCACAACAAAGACAGCCCATGACGTTCCAGAAAGGACTTCAGGCAGGACTGTGAGTGTGTGTTCTTTCATGGGGGAAGGGAGACACGATGCAGAGCATTGGGAGGCAATATCAGAATATTACAAAGAGCCCG
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TGGTCTACAACCCTACTTATTCTTCCTTCCATAAAAGTACAGCTATAAAGGCCTTTTCTGTGTCCATTTGTGTACTTGTCTTCATCTCCACCTTCTTAACTGAGCTTCTTTACAGGCTCCACTAGCAGCCTCCAAACACAAGAGGGACTCCTTTTAGGGACTCCTGTGCTGTCACAAAGCAGGCCTTAAATAAAAATCCATCAAGTGACTATCCCAGCACTTCTTTCAATTAACTGCAATTCTGATTCCTGCAGTTCACATACTGACTTCATAAGTAAATTTACTACGAACTCTTCCTTTCATATTTAGAAAAAGGCCTGATTTCCTAAGACATAATAAGGCTGACTTTATACTGAATTGTAAGTGATGAAAGTAACATGAGTAAGAGCTCAAATGGGTAAACAAAAGCTGAAACCACAACATACTTAAAGAAGGGTCTCAACACAGCAAATGAGGAAGCATAGTACACAACCACCAACTACTCATTTTGCTCAGTGTTTAAGGCCAGTTTCATTGGGTCAAATCACAGGATCTAATGGAGTGAGCTTTGTCATCATAATTAGGGGCAGGGAGGATTCAGGTGTTCATCTTGCTGCAAAGAGTCAGGATTGCTGGTTTATTTGGTTGCTTCATCTCCGGCAGAAGAAAGGAGGAACAGAAAAATAGAAGCTAGTTAAGTAACCTGTTCCCACAGGGTCCTCAAGACGTGGATCCCAAGTCCAGATCACTTACAAATGAAATGTACCACACCTCTCCTAGGTTTATCCTGTTATTCATTCTTGTGTTTATCCAAGACTCAGTCTGGGTTTTCTGCAAAGCAAACCCTGCACATCTTGCTACATTCTTCAACAAGAGATTATGTATGTAATAGGCATAAGAGTTCCAGATCTATTTTTCCTCTTTTGTCCAAAGAAATAGGCATTTAAAAGCAGGCCCATTTCAGAAACAATAATAGAAGTGAATACGAACTAGTTCCATAAAGTTGTTTTTCTAAAATAAAAATTTACATTCAATCATTTTTAGTAAGCTGCTAAATTATCTTAGTTTTCCAATTATTTTTAATTTTCCATTAATACAACTGATTTCCAATAAATTTAAACACTAATTTTTTCTCATTACAAATAGAATCCTAAGTTTGCTCCTCAAAGGATTTTTGTTTTTAATGTGAAGAGCACTTAAATGACTGAACTCACTATTGTGATGTACTTTTCTAAGTGACAGAAAAGAAGACATTTGTATATTAGTTTGGCTAATATGACTCTTGCCACGGTTTAGAGGATGTTTGAGACACTTATAAATAAAACAGTAAGAGAGACAGTATTCCATTTTTCAGAAATATGCATGGCTAAAAAAAGTAGTTAATTTTGCTTAGGTTTGTAGAACTCTAAACCTGAGTAATTCAAGTTGAAATGAACAAAAGATGCTTCCTTACCTTTAGGTCTTTCCAACTGTCCAGGAGTTTGGTGGCCAAATCACTTATATCCACTGTTTTATCTGGCTGTTCTTGGCTCCTTTCACTCTCCACATCAGACACACCCTCCTCTTCATCTTGGGATGGTGTTTCTTCATTAATAGGTTCTTCTAGTTTTGTGCCGTTGCTCTCTTTGGGCTCTATTTCAGCGTCAGCTTCTGGTTCAGATGTAGGTAGCTTACTAGCTTCTATGTTGGTTTCACTATCAACTTTGCATTCAGGCAGCTGTTGTGGGAGTAGCTGTTGTGACTGCAATTCTTCCTCTTCCTCTACAGGGACATTTTCTAATTGATCAAGATCCTCTTTGCCATCCTTGCCTTCTAGCTCACTGGTTGCATCAGAGATTGCACTGTCCATGCTATTTTCACTTATAATTTTCAGTCTGCGAAACATTAGTTTCTTGGGAGTGTCTGTGTCAGCTTCTGTGCTCAGCTTGGTGGAAGGATCAGGTGTGTTGAGTGGTGTATGAGCACGCGATGTATTCTCACTAGAATACCCATCTCCTTCACTCAACGGAGGGACAGCAGTCTTAGTCTGAGACCAGCGTTGAATAATTGGAAGTACTTTGCTTTCCTCCCACATATTTTTAGTAGGAATGGGCAAGTGTTCCAAAGTCTTTATAATCTGATTAAACATAAAAAAAAATTACATCACTTTGTACAGTTGACTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAATGCAATGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCGCTAGCTGCCACGCCTGGCTAATCTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAATGCTGGGATTACCAGCATGAGCCACCACACCTGGCTACAGTTGATTTTGTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGATGTGATCTTGGTCACTGCAATCTCTGGCTCCCTGGTTTAAGCGATTCTCCTGCCTCAGCCTCCCGAGGAGCTGGGATTACAGGGATGCACCACCATGCACAGCTTTTTTTTTTTTTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTAGGTGATCCACCTGCCTCAGCCTCCCAAACTGCTGGGATTACAGGCATTGAGCCACAGCGCCTGGCCTACAGTTGACTTTTTCAATTTCTGGATGGGACTCAGATTATTTCTGCAAGAGTAGTGCAGTTTTGCTACTGCTTTATTAAGAACTACATCTCTGTAAACACAAGCATATTTAAAAATCATAATATTGTTTTCCTTAAGAAAGAAAAACTTTTAATAAGACTGATCAGCAAGAATCACAACATCAAATAGGACTGATTAATATTCTCTACCAGTAGTTCCTAAACCTGGGTAGCTTTTTAAACATATACACTACTGGACCAATCCTGGGTATCTTTTCTTAAAAAGTTTACCAAGTGTCTGTGATATACACTTAGCAGCTATGTAACAACATATTTAAATGATGTCTGTCATACACACAAAAATGCAGACATCTCTTCAGCTTTTGATAAACAGCTGTCTAGCAAAGAGAGATCCCCTCCTCATTCTTAGACAACCTCCCCCATTTTGAAATCCAAGAATTTTTTCTGAAGTATTCCTCAATGTAGTTCCACAGAAACCCCAAGGCTTCCTCAATTTCCTCAAGCCAAATCTCCTGGGAGAAGGACAGAGGCAAGAACAAGTACTTATCTGCCCATTCCTTTTTGTTTGTTTTTAAAAGTGTTTTATTAAATAAAAGACTCTGGGATTATATTACAAATTAGAAAGTTAGAAAATTTTATTAATTTCATAGAAAGGTAAAGACATCGTAACTCCACTAATAATGCTGCCAATGAACCTTTACTTAGATCTTTTAAAACACTTATTTAAAAGATTCCTCAAAATGTTCATACTCTTGTTATGCAGAATTCAGATCTTTACCAATTCTTTAGACCCCACAGTTCAAATTTTATATGACTTCCCATCTTTTTAAAACTCTGGTTTTAACAACAAACTGGATCTTTCACTTAACTATGTTGTTGTTATTATATCTTGCTCTTGTAGTTCCCTGCTATGTAGTACCAACTTTAAAAAGATACTATAGGAAAACCATGGGACAAACTACTAACAAGGTGTATGTACGGTTAGATACGTTAAAGGAATGATACTGAGATGAAAAAATTATTTGATTATTTAATACCAATGATACAGTGCTAAATTCATAATTACTGATATTATCACATATCCACAACCGAGGCAATCAATATAACAGTTTTAAGAAACAAGCAAGCTAAATGTGAACTGACCTCTTCCTGAAGCTTCTGGTTACTTTCCCGGCCGTCACCTAGCTCTGCCATCCAGATCCACAACAAAGACAGCCCATGACGTTCCAGAAAGGACTTCAGGCAGGACTGTGAGTGTGTGTTCTTTCATGGGGGAAGGGAGACACGATGCAGAGCATTGGGAGGCAATATCAGAATATTACAAAGAGCCCG
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Task1_train_6723
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Assess the clinical impact of this variant on gene SETD2 (SET domain containing 2, histone lysine methyltransferase), found on Chromosome 3. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; not provided
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TTATCACATATCCACAACCGAGGCAATCAATATAACAGTTTTAAGAAACAAGCAAGCTAAATGTGAACTGACCTCTTCCTGAAGCTTCTGGTTACTTTCCCGGCCGTCACCTAGCTCTGCCATCCAGATCCACAACAAAGACAGCCCATGACGTTCCAGAAAGGACTTCAGGCAGGACTGTGAGTGTGTGTTCTTTCATGGGGGAAGGGAGACACGATGCAGAGCATTGGGAGGCAATATCAGAATATTACAAAGAGCCCGAGGAGAGTTCATGTATACGTTACACATTATAGGGTTCACTTACATTCACAAAAAAAACCTAGAAACTCTGTTTTCATTAGCCTAAATAGAACTCTACAACAAATGCTTTAAACAGATTATAATCTTCTCTGATACACAAAATACAGCCAGTCAACTGGGATTTTACTAACGTAGAAAATTATATGAATATTAATAGGTCATTTATAATGAAAATTCTGAAGAACTAAGAAAAAATTGCATCTAACTTTTTAAATAAAGCTAAAACCATAAAAATTAGTCCTTAAATAATTCTTTCTTCTCTCCCTTTCAGATGATTGTTGAAAAGACCTCTTTTTCCTGTTAGTTTTTTTTTTTTAATCATCATGGTTTTTTTACACTGTGGCTTACAACTACAATCTCAGCACTTTCGAAGGTGGAAGAGGGAGGGACTGGTTGAGGCCAGGAGTTCAAAACCAGCCTGGGCAAAATAGCAAGACCCTTATCTCTACAAAAATATAAATATAAAAATTAGCTGGATGTGGTGGTGTGTGCCTGTAGTCCTAGATACTCAGGCAACTGAGGCAGGAGGATCACTTGAGCCCAGGAGTTCCAAGGCTGCAGTAAGCTATGATTGCACAACTGCGTTCCAGCCTGGGCAACAAAGCAAGACCCTAAAAAAAAAAAAAAATCATTTTGTGTTATCTAACATCTTGTGGCATACTTAATAAACTGGTGTAAAAAAGGGTACCGTTAAAATTTTGTGCTTGGAGATCACGTAGTACAAATGGCTTTGGGATGCTAGTAACTGGAGGGTAAAAGGCTATGGCAAGTGTGATGAATTATTACAAAAAAAAAAAAAAAGCCACCACATTCTTTGAATATAGACAGAAAGCAAACCAGGTCTAATAATGCCATGGTCCCCAACCTTTCTGGCACCAGGAACCAGTTTCAGGGAAGATAATTTTTCAACAAACTGGGTGGGGGATGGATTCAGGATGAAACTGTTCCACCTCAAATCATCAGGCATTAGATTCTCATAAGGAGTGTACAACCTAGATCTCTCGCATGTGCAGTTCACAATAGGGTTCGTGCTCCTATGAGAATCGAATGCCGCTGCTACTCTGACAGCAGGTGGAGCTCAGGCAGTAATGCTCACTCACCTCCTCCTGTGTGGCCCCGTTCCTAATCAGCCCATGGCCTGGGGATTGGGGATCCCTGTACTAATAGATTAAATGATACTGAACTCTTTAGCCATTTTAAATAATATGGTACAAGCTTTGAAAGTCATACACAACTCACATATCCATTTAAAAAATAAAACTGGCCGGCCATGGTGGCTCACGCCTGTAATCCCAGCATTCTGGGAGGCTGAGACGGGTGGATCATCTGAGGTCAGGATTTCCACACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAATAAGAAAATACAAAAATCAGCTGGGCGTGGTGGCTGGCGCCTGTAATCCCAGCTACTCAGGACGCTGAGGCAGAATTGCTTGCACCCAGGACACAGAAGTTACAGTGAACCGAGACTGCACCACTGCACTCCAGCCTGGATGACAGAACAAGACCCCATCTAAACAAACAAACAAACAAACAAACAAACAAATAAATAAATAAATAAAATAAGACTAACTCTTATCAGAATTATTCCTTCTTCATTCATCTTCATTCATTCATTCCCACCACAAAACCAGAAATAAAAAACAAACATTAAAGTGTTCACCTGTATGAGTTCCAGACAGGTAAGTTTCTGCTCCAAAGTTTCAATTCTAACCATTAGCCGGGATAAGCTGAGCACCTGGTTTTTATCAGAGAGACCCTCACCATTTTCCATCAGAGCTTCTAGCTCTCCATCCACCTACCACAGCAAATAAAAATACCTTTTTATAAAACAACAACAACAAAAAAAAAAACCAAAAACCCAAAAAGTTGCTCAACCTTATCAATTATCAGGAAAACACAAATGAAGACCAAACTGGGAAAGTACTAGACTGGGGGAAAAAGTTAAGAAGGCTGATAATAACAAGTCTACTGTTGATGAAAGTATAAAGTGGTATAATACATTTGAAATGCATTTCATTCACTCATCAAATACGTAGCAAGAACTTATATGAGTCAAGTATAATTCTAGGTGGAGATCTGCAATGAGCCAAAACAGAAAAACCTGCCCTTATGGGAGACCATGAACAAATTACATTAAACCAAAAGGACTTCAGAGATCCTTTATGGTTCATAAATATGATGAATGGGTTTTCACGCTGCTGTGTGAGATATATCTCCTTCAAACTTATATAATTTATATGTTATAATATATAATGACCTTTTTATGATGTCAGCATATGAATGACCCAGCTGATAGGGGCCGGGTGCTTCAGAAAAAAATAAAGCATTAGCCTGAAAAATAAAATAGTTGTATCCCCATGCACAGAAATTCTACTTATCAGAATAAACTGTAGAGAAATTCTGCACATGTGTACCTGGAGATTCATAAGAATGTTCATTGAAGCAATATTTATAATAGCAAAAAATTGCCAACAACCCAAATATCTGTACAAGTTGGATAAACGGCCATGTTCACTCAATGAAATATAATACTACAGTGAAAGGAATCAAGTACAGCCAAATGCAACAACATCCATCAATCTTAAAAATATGTCATTAAGAAAAAGCAAGTTCCAAAGAATTACATGCTATATGAATCCATTTTTATGCACCTCAAAGCTGAACTTTTTAGTGATACATATGTGAAAAACTGCTTTTAAACAGGCAAGGATGACCGGGCATGGTGGCTCACACTTGTAATCTCAGCACTTTGAAAGGCTGAGGCAGGAAGATGACTTGAGCTCAGGAGTTTAAGACCAGCCTGGGCAACACAGCCAGACTTCATCTCTACTAAAAATCAAAAAAATTAGCCAGGTGTGGTAGCATGTGTCTATAGTCTCAGCTATTCAGGAGGCTGAGGCAGAAGGATCACCTGAGCCTGGGAAATTGAGGCTACAGTGAGTTATAATTTTGCCACTGCACTCCAGCCTGGGTGACACAGTGAAATCCTGTCTCAAAAAAAGGCAAGGAAGTAAGACCCAAAATGTACAACAGTGGTAACCTCTAGGTAGGGAGAAGGAAGCAGAGAAGCACTAACAAGGATTTTATAATTATGCTTTGTAACATATATATTCTTTAAGTATTTTAAATATTAAATGTAAATAACGGGGGGTGGGAATCAACCTACCAAAGGTTATTTCCAGCCCTGCATTATGGCAGTTACAGGACATAAAGATTCTTTCAAAGAATTTATTATGGGTGAGATTAAATTAATTCATATGAAACCAAACAAGGAAGCATTAACTGCAAATGTTACATAGAACTAAGAGGCCTACATAAGGGAGTAATTAGAATGAGTCACTGAAATAAGATTAGAAATAGGTAAGATAAAGACAAGAGGAAAGGGTAAGCAAAGTAGTGGGGAAAAGTGTGAACAAAGGAAAATAAGAAATCATGACAGTGCTTAGGTCAACAAAGCTCAAACAGGTAAGGCATGGTGACGGACTGAGAAAAACCATACCAAATAAAAGACTGGGCCAGATGCAGTGGCTCATGTCTACAATCCCAGAACTCTGAAAGGCCAAGACAGGCGGATCACCTGAGGTCAGGAGTTCAAGACGAGCCTGGCCAACATGGTGAAACCCTGTCTCTAATAAAAATACAAAAATTAGCCGGGCATCGTGGCGGGAGCCTGTAGTACCAGCTATCGGGAGGCTGAGGCAGGAGAATAGCTTGAACCCACGAGGTGGAGGTTGCAGTGAACCAAGATTGTGCCACTGTACTCTAG
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TTATCACATATCCACAACCGAGGCAATCAATATAACAGTTTTAAGAAACAAGCAAGCTAAATGTGAACTGACCTCTTCCTGAAGCTTCTGGTTACTTTCCCGGCCGTCACCTAGCTCTGCCATCCAGATCCACAACAAAGACAGCCCATGACGTTCCAGAAAGGACTTCAGGCAGGACTGTGAGTGTGTGTTCTTTCATGGGGGAAGGGAGACACGATGCAGAGCATTGGGAGGCAATATCAGAATATTACAAAGAGCCCGAGGAGAGTTCATGTATACGTTACACATTATAGGGTTCACTTACATTCACAAAAAAAACCTAGAAACTCTGTTTTCATTAGCCTAAATAGAACTCTACAACAAATGCTTTAAACAGATTATAATCTTCTCTGATACACAAAATACAGCCAGTCAACTGGGATTTTACTAACGTAGAAAATTATATGAATATTAATAGGTCATTTATAATGAAAATTCTGAAGAACTAAGAAAAAATTGCATCTAACTTTTTAAATAAAGCTAAAACCATAAAAATTAGTCCTTAAATAATTCTTTCTTCTCTCCCTTTCAGATGATTGTTGAAAAGACCTCTTTTTCCTGTTAGTTTTTTTTTTTTAATCATCATGGTTTTTTTACACTGTGGCTTACAACTACAATCTCAGCACTTTCGAAGGTGGAAGAGGGAGGGACTGGTTGAGGCCAGGAGTTCAAAACCAGCCTGGGCAAAATAGCAAGACCCTTATCTCTACAAAAATATAAATATAAAAATTAGCTGGATGTGGTGGTGTGTGCCTGTAGTCCTAGATACTCAGGCAACTGAGGCAGGAGGATCACTTGAGCCCAGGAGTTCCAAGGCTGCAGTAAGCTATGATTGCACAACTGCGTTCCAGCCTGGGCAACAAAGCAAGACCCTAAAAAAAAAAAAAAATCATTTTGTGTTATCTAACATCTTGTGGCATACTTAATAAACTGGTGTAAAAAAGGGTACCGTTAAAATTTTGTGCTTGGAGATCACGTAGTACAAATGGCTTTGGGATGCTAGTAACTGGAGGGTAAAAGGCTATGGCAAGTGTGATGAATTATTACAAAAAAAAAAAAAAAGCCACCACATTCTTTGAATATAGACAGAAAGCAAACCAGGTCTAATAATGCCATGGTCCCCAACCTTTCTGGCACCAGGAACCAGTTTCAGGGAAGATAATTTTTCAACAAACTGGGTGGGGGATGGATTCAGGATGAAACTGTTCCACCTCAAATCATCAGGCATTAGATTCTCATAAGGAGTGTACAACCTAGATCTCTCGCATGTGCAGTTCACAATAGGGTTCGTGCTCCTATGAGAATCGAATGCCGCTGCTACTCTGACAGCAGGTGGAGCTCAGGCAGTAATGCTCACTCACCTCCTCCTGTGTGGCCCCGTTCCTAATCAGCCCATGGCCTGGGGATTGGGGATCCCTGTACTAATAGATTAAATGATACTGAACTCTTTAGCCATTTTAAATAATATGGTACAAGCTTTGAAAGTCATACACAACTCACATATCCATTTAAAAAATAAAACTGGCCGGCCATGGTGGCTCACGCCTGTAATCCCAGCATTCTGGGAGGCTGAGACGGGTGGATCATCTGAGGTCAGGATTTCCACACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAATAAGAAAATACAAAAATCAGCTGGGCGTGGTGGCTGGCGCCTGTAATCCCAGCTACTCAGGACGCTGAGGCAGAATTGCTTGCACCCAGGACACAGAAGTTACAGTGAACCGAGACTGCACCACTGCACTCCAGCCTGGATGACAGAACAAGACCCCATCTAAACAAACAAACAAACAAACAAACAAACAAATAAATAAATAAATAAAATAAGACTAACTCTTATCAGAATTATTCCTTCTTCATTCATCTTCATTCATTCATTCCCACCACAAAACCAGAAATAAAAAACAAACATTAAAGTGTTCACCTGTATGAGTTCCAGACAGGTAAGTTTCTGCTCCAAAGTTTCAATTCTAACCATTAGCTGGGATAAGCTGAGCACCTGGTTTTTATCAGAGAGACCCTCACCATTTTCCATCAGAGCTTCTAGCTCTCCATCCACCTACCACAGCAAATAAAAATACCTTTTTATAAAACAACAACAACAAAAAAAAAAACCAAAAACCCAAAAAGTTGCTCAACCTTATCAATTATCAGGAAAACACAAATGAAGACCAAACTGGGAAAGTACTAGACTGGGGGAAAAAGTTAAGAAGGCTGATAATAACAAGTCTACTGTTGATGAAAGTATAAAGTGGTATAATACATTTGAAATGCATTTCATTCACTCATCAAATACGTAGCAAGAACTTATATGAGTCAAGTATAATTCTAGGTGGAGATCTGCAATGAGCCAAAACAGAAAAACCTGCCCTTATGGGAGACCATGAACAAATTACATTAAACCAAAAGGACTTCAGAGATCCTTTATGGTTCATAAATATGATGAATGGGTTTTCACGCTGCTGTGTGAGATATATCTCCTTCAAACTTATATAATTTATATGTTATAATATATAATGACCTTTTTATGATGTCAGCATATGAATGACCCAGCTGATAGGGGCCGGGTGCTTCAGAAAAAAATAAAGCATTAGCCTGAAAAATAAAATAGTTGTATCCCCATGCACAGAAATTCTACTTATCAGAATAAACTGTAGAGAAATTCTGCACATGTGTACCTGGAGATTCATAAGAATGTTCATTGAAGCAATATTTATAATAGCAAAAAATTGCCAACAACCCAAATATCTGTACAAGTTGGATAAACGGCCATGTTCACTCAATGAAATATAATACTACAGTGAAAGGAATCAAGTACAGCCAAATGCAACAACATCCATCAATCTTAAAAATATGTCATTAAGAAAAAGCAAGTTCCAAAGAATTACATGCTATATGAATCCATTTTTATGCACCTCAAAGCTGAACTTTTTAGTGATACATATGTGAAAAACTGCTTTTAAACAGGCAAGGATGACCGGGCATGGTGGCTCACACTTGTAATCTCAGCACTTTGAAAGGCTGAGGCAGGAAGATGACTTGAGCTCAGGAGTTTAAGACCAGCCTGGGCAACACAGCCAGACTTCATCTCTACTAAAAATCAAAAAAATTAGCCAGGTGTGGTAGCATGTGTCTATAGTCTCAGCTATTCAGGAGGCTGAGGCAGAAGGATCACCTGAGCCTGGGAAATTGAGGCTACAGTGAGTTATAATTTTGCCACTGCACTCCAGCCTGGGTGACACAGTGAAATCCTGTCTCAAAAAAAGGCAAGGAAGTAAGACCCAAAATGTACAACAGTGGTAACCTCTAGGTAGGGAGAAGGAAGCAGAGAAGCACTAACAAGGATTTTATAATTATGCTTTGTAACATATATATTCTTTAAGTATTTTAAATATTAAATGTAAATAACGGGGGGTGGGAATCAACCTACCAAAGGTTATTTCCAGCCCTGCATTATGGCAGTTACAGGACATAAAGATTCTTTCAAAGAATTTATTATGGGTGAGATTAAATTAATTCATATGAAACCAAACAAGGAAGCATTAACTGCAAATGTTACATAGAACTAAGAGGCCTACATAAGGGAGTAATTAGAATGAGTCACTGAAATAAGATTAGAAATAGGTAAGATAAAGACAAGAGGAAAGGGTAAGCAAAGTAGTGGGGAAAAGTGTGAACAAAGGAAAATAAGAAATCATGACAGTGCTTAGGTCAACAAAGCTCAAACAGGTAAGGCATGGTGACGGACTGAGAAAAACCATACCAAATAAAAGACTGGGCCAGATGCAGTGGCTCATGTCTACAATCCCAGAACTCTGAAAGGCCAAGACAGGCGGATCACCTGAGGTCAGGAGTTCAAGACGAGCCTGGCCAACATGGTGAAACCCTGTCTCTAATAAAAATACAAAAATTAGCCGGGCATCGTGGCGGGAGCCTGTAGTACCAGCTATCGGGAGGCTGAGGCAGGAGAATAGCTTGAACCCACGAGGTGGAGGTTGCAGTGAACCAAGATTGTGCCACTGTACTCTAG
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Task1_train_6724
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Consider this mutation in PTPN23 (protein tyrosine phosphatase non-receptor type 23) on Chromosome 3. Is this a benign change or a disease-causing variant?
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Pathogenic; Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity
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TGCTGTTGGCTGGGGTGGTGCCCGGCTGCCTCCTGAGCTGCTTGTCATCTGATGGACAGGCAGGGCCGGGTGGGAGGCAGGAGGAGAAAGGGTCCAAGCAGAGGAGGACAGAGCAGGCTTTCCTGCCACCCTCCACAGGTTGCATACTTCCAGAGCGCCCTGGACAAGCTCAATGAAGCCATCAAGTTGGCCAAGGTAAAGCTGAGGAAGGCCTGGCTGCCCTGAGGGTATAGGAGCAAGCCCGGTAGGACTGAGGGGGTGTCCTGGTGCCAGCCTTGGTTAGTGCTAAGGCCCCACCCCTGTCCCTAACCCCACAGGGCCAGCCTGACACTGTGCAAGACGCGCTTCGCTTCACTATGGATGTCATTGGGGGAAAGTGAGTCTGTGGGGGTGGCCCTGGTTCCCTCTTTTTGTGAAGGGTCTTGTCCCTCTGCTGGCATCTACATGGGAAGTAGGTTCTGGATCCCCACTGACACCCCGTGACTGCCCACTCCCCCTGCTCCTGATCCCCAGGTACAATTCTGCCAAGAAGGACAACGACTTCATTTACCATGAGGCTGTCCCAGCATTGGACACTCTTCAGCCTGTAAAAGGTCGGGGAGCTGAGAGGTGGGGGCAGAGGTGACGGTGGGGTGGGGACAGGACACAGGAGGCTGCCTCAAGGACTCTGCGTGGGCCTGATCTCCACAATTCCCACCCCCCCAGGAGCCCCCTTGGTGAAGCCCTTGCCAGTGAACCCCACAGACCCAGCTGTTACAGGCCCTGACATCTTTGCCAAACTGGTACCCATGGCTGCCCACGAGGCCTCGTCACTGTACAGGTGGGTGGAGGGTGGCACAGAGGGAGGTGGGGTGTCTTGAGATGTGGGTCTTCAGCAAATGCTCTGTCGCTTCTGCAGTGAGGAGAAGGCCAAGCTGCTCCGGGAGATGATGGCCAAGATTGAGGACAAGAATGAGGTCCTGGAGTGAGTGTGGGACTTGGGCAGGGAGGCGGAGGCAGGCAGCACTTCCCGGGCCTCTGGGGGCCCCAGGGCTGCCTATGCTGGGAGAGGAATGAAATGTCCATTCCAAACAGGTTTCCCAATGCTGCCTTCCCGCCTGGGGTGGTGGGGCTAGTGTGTAAGGCAGGAGTCATGTCTTGGGAGGAGGAGGTGCCTTCTGTTCCACTGTTTCCAGCAGTGCCCTGGGCATGTTCTGTGAGACCAGGCCAGACCTGGTAGTAGGGGTCCGAGGTCACAATTTGCTCTCTGCTGAGACCTCAGATTGAGTGGTGAGGCTTGCCCTAGCGGCTCCTTTGACATGGTCAGAGTTGGATCAGCACCCAGCACCCACCTGGCCCTGTTGCTCCCCACAGCCAGTTCATGGATTCAATGCAGTTGGATCCCGAGACGGTGGACAACCTTGATGCCTACAGCCACATCCCACCCCAGCTCATGGAGAAGTGCGCGGCTCTCAGCGTCCGGCCCGACACTGTCAGGAACCTTGTACAGTCCATGCAAGGTGAGTAAGGGGCAGAGCAAGCAGGTGGAAGGGAGTGTGGAGGTCATCTGCTGTGGCCTCCTCCGTGTCCCTGGTCACTGAGGATGGAGGCTGCACCCCTCTAGGCCCTGGCTTGGGCATCCACACCCACTCCTCTGAATCAGCATACCTCTTGCACCCTGCTCAGTGTGCGCTGGGCCTCACTTAAGCCCTGACCTGAGGGGGCGGTTCTGTCTCTTGGGGGAGGGGCCCATGGGTGCCCGGTCAGCCTGCCTCAGGGGCTGCCTGTACAATCCACAACCCCAGTGCTGTCAGGTGTGTTCACGGATGTGGAGGCTTCCCTGAAGGACATCAGAGATCTGTTGGAGGAGGATGAGCTGCTAGAGCAGAAGTTTCAGGAGGCGGTGGGCCAGGCAGGGGCCATCTCCATCACCTCCAAGGCTGAGCTGGCAGAGGTGAGGCGAGAATGGGCCAAGTACATGGAAGTCCATGAGAAGGCCTCCTTCACCAACAGTGAGCTGCACCGTGCCATGAACCTGCACGTCGGCAACCTGCGCCTGCTCAGCGGGCCGCTTGACCAGGTCCGGGCTGCCCTGCCCACACCGGCCCTCTCCCCAGGTGAGCCCCACCAGACCCCATTGGGAGACTCGAGCTGGGGGTTTCTCTGGCCTCACTGACCACTGCTGCCCACAGAGGACAAGGCCGTGCTGCAAAACCTAAAGCGCATCCTGGCTAAGGTGCAGGAGATGCGGGACCAGCGCGTGTCCCTGGAGCAGCAGCTGCGTGAGCTTATCCAGAAAGATGACATCACTGCCTCGCTGGTCACCACAGACCACTCAGAGATGAAGGTGGGCTGGGTGAGCAGGGTAGAGGGGCTCTGGCTCCGGGCCCCACCCTTAGGAGTCGAGGCCCTGAGTGTCCGTCCCTGGCCCCCACCCCTTCCTCAGAAGTTGTTCGAGGAGCAGCTGAAAAAGTATGACCAGCTGAAGGTGTACCTGGAGCAGAACCTGGCCGCCCAGGACCGTGTCCTCTGTGCACTGACAGAGGCCAACGTGCAGTACGCAGCCGTGCGGCGGGTACTCAGCGACTTGGACCAAAAGTCAGTGCCCAGTCCTCTGCTCTTTCCCGGAGCCACCTGGAGCCCAGCCCCATGGTTCACCTGGAGCTGGCCCTTCTGCCCACCAGGTGGAACTCCACGCTGCAGACCCTGGTGGCCTCGTATGAAGCCTATGAGGACCTGATGAAGAAGTCGCAGGAGGGCAGGGACTTCTACGCAGATCTGGAGAGCAAGGTGGCTGCTCTGCTGGAGCGCACGCAGTCCACCTGCCAGGCCCGCGAGGCTGCCCGCCAGCAGCTCCTGGACAGGTTTGTGTGGCCCTGGGGCTGTGGTGCGGCTCGGGTCCAGACAGGCTGGGGTGATGGGAGCCTGGCCCCACTTTTTCCTTGCCTGTCGCACAGGGAGCTGAAGAAGAAGCCGCCGCCACGGCCCACAGCCCCAAAGCCGCTGCTGCCCCGCAGGGAGGAGAGTGAGGCAGTGGAAGCAGGAGACCCCCCTGAGGAGCTGCGCAGCCTCCCCCCTGACATGGTGGCTGGCCCACGACTGCCTGACACCTTCCTGGGAAGTGCCACCCCGCTCCACTTTCCTCCCAGCCCCTTCCCCAGCTCCACAGGCCCAGGACCCCACTATCTCTCAGGCCCCTTGCCCCCTGGTACCTACTCGGGCCCCACCCAGCTGATACAGCCCAGGGCCCCAGGGCCCCATGCAATGCCCGTAGCACCTGGGCCTGCCCTCTACCCAGCCCCTGCCTACACACCGGAGCTGGGCCTTGTGCCCCGATCCTCCCCACAGCATGGCGTGGTGAGCAGTCCCTATGTGGGGGTAGGGCCGGCCCCACCAGTTGCAGGTCTCCCCTCGGCCCCACCTCCTCAATTCTCAGGCCCCGAGTTGGCCATGGCGGTTCGGCCAGCCACCACCACAGTAGATAGCATCCAGGCGCCCATCCCCAGCCACACAGCCCCACGGCCAAACCCCACCCCTGCTCCTCCCCCGCCCTGCTTCCCTGTGCCCCCACCGCAGCCACTGCCCACGCCTTACACCTACCCTGCAGGGGCTAAGCAACCCATCCCGGCACAGCACCACTTCTCTTCTGGGATCCCCGCAGGTTTTCCAGCCCCAAGGATTGGGCCCCAGCCCCAGCCCCATCCTCAGCCCCATCCTTCACAAGCGTTTGGGCCTCAGCCCCCACAGCAGCCCCTTCCACTCCAGCATCCACATCTCTTCCCACCCCAGGCCCCAGGACTCCTACCCCCACAATCCCCCTACCCCTATGCCCCTCAGCCTGGGGTCCTGGGGCAGCCGCCACCCCCCCTACACACCCAGCTCTACCCAGGTCCCGCTCAAGACCCTCTGCCAGCCCACTCAGGGGCTCTGCCTTTCCCCAGCCCTGGGCCCCCTCAGCCTCCCCATCCCCCACTGGCATATGGTCCTGCCCCTTCTACCAGACCCATGGGCCCCCAGGCAGCCCCTCTTACCATTCGAGGGCCCTCGTCTGCTGGCCAGTCCACCCCTAGTCCCCACCTGGTGCCTTCACCTGCCCCATCTCCAGGGCCTGGTCCGG
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TGCTGTTGGCTGGGGTGGTGCCCGGCTGCCTCCTGAGCTGCTTGTCATCTGATGGACAGGCAGGGCCGGGTGGGAGGCAGGAGGAGAAAGGGTCCAAGCAGAGGAGGACAGAGCAGGCTTTCCTGCCACCCTCCACAGGTTGCATACTTCCAGAGCGCCCTGGACAAGCTCAATGAAGCCATCAAGTTGGCCAAGGTAAAGCTGAGGAAGGCCTGGCTGCCCTGAGGGTATAGGAGCAAGCCCGGTAGGACTGAGGGGGTGTCCTGGTGCCAGCCTTGGTTAGTGCTAAGGCCCCACCCCTGTCCCTAACCCCACAGGGCCAGCCTGACACTGTGCAAGACGCGCTTCGCTTCACTATGGATGTCATTGGGGGAAAGTGAGTCTGTGGGGGTGGCCCTGGTTCCCTCTTTTTGTGAAGGGTCTTGTCCCTCTGCTGGCATCTACATGGGAAGTAGGTTCTGGATCCCCACTGACACCCCGTGACTGCCCACTCCCCCTGCTCCTGATCCCCAGGTACAATTCTGCCAAGAAGGACAACGACTTCATTTACCATGAGGCTGTCCCAGCATTGGACACTCTTCAGCCTGTAAAAGGTCGGGGAGCTGAGAGGTGGGGGCAGAGGTGACGGTGGGGTGGGGACAGGACACAGGAGGCTGCCTCAAGGACTCTGCGTGGGCCTGATCTCCACAATTCCCACCCCCCCAGGAGCCCCCTTGGTGAAGCCCTTGCCAGTGAACCCCACAGACCCAGCTGTTACAGGCCCTGACATCTTTGCCAAACTGGTACCCATGGCTGCCCACGAGGCCTCGTCACTGTACAGGTGGGTGGAGGGTGGCACAGAGGGAGGTGGGGTGTCTTGAGATGTGGGTCTTCAGCAAATGCTCTGTCGCTTCTGCAGTGAGGAGAAGGCCAAGCTGCTCCGGGAGATGATGGCCAAGATTGAGGACAAGAATGAGGTCCTGGAGTGAGTGTGGGACTTGGGCAGGGAGGCGGAGGCAGGCAGCACTTCCCGGGCCTCTGGGGGCCCCAGGGCTGCCTATGCTGGGAGAGGAATGAAATGTCCATTCCAAACAGGTTTCCCAATGCTGCCTTCCCGCCTGGGGTGGTGGGGCTAGTGTGTAAGGCAGGAGTCATGTCTTGGGAGGAGGAGGTGCCTTCTGTTCCACTGTTTCCAGCAGTGCCCTGGGCATGTTCTGTGAGACCAGGCCAGACCTGGTAGTAGGGGTCCGAGGTCACAATTTGCTCTCTGCTGAGACCTCAGATTGAGTGGTGAGGCTTGCCCTAGCGGCTCCTTTGACATGGTCAGAGTTGGATCAGCACCCAGCACCCACCTGGCCCTGTTGCTCCCCACAGCCAGTTCATGGATTCAATGCAGTTGGATCCCGAGACGGTGGACAACCTTGATGCCTACAGCCACATCCCACCCCAGCTCATGGAGAAGTGCGCGGCTCTCAGCGTCCGGCCCGACACTGTCAGGAACCTTGTACAGTCCATGCAAGGTGAGTAAGGGGCAGAGCAAGCAGGTGGAAGGGAGTGTGGAGGTCATCTGCTGTGGCCTCCTCCGTGTCCCTGGTCACTGAGGATGGAGGCTGCACCCCTCTAGGCCCTGGCTTGGGCATCCACACCCACTCCTCTGAATCAGCATACCTCTTGCACCCTGCTCAGTGTGCGCTGGGCCTCACTTAAGCCCTGACCTGAGGGGGCGGTTCTGTCTCTTGGGGGAGGGGCCCATGGGTGCCCGGTCAGCCTGCCTCAGGGGCTGCCTGTACAATCCACAACCCCAGTGCTGTCAGGTGTGTTCACGGATGTGGAGGCTTCCCTGAAGGACATCAGAGATCTGTTGGAGGAGGATGAGCTGCTAGAGCAGAAGTTTCAGGAGGCGGTGGGCCAGGCAGGGGCCATCTCCATCACCTCCAAGGCTGAGCTGGCAGAGGTGAGGCGAGAATGGGCCAAGTACATGGAAGTCCATGAGAAGGCCTCCTTCACCAACAGTGAGCTGCACCGTGCCATGAACCTGCACGTCGGCAACCTGCGCCTGCTCAGCGGGCTGCTTGACCAGGTCCGGGCTGCCCTGCCCACACCGGCCCTCTCCCCAGGTGAGCCCCACCAGACCCCATTGGGAGACTCGAGCTGGGGGTTTCTCTGGCCTCACTGACCACTGCTGCCCACAGAGGACAAGGCCGTGCTGCAAAACCTAAAGCGCATCCTGGCTAAGGTGCAGGAGATGCGGGACCAGCGCGTGTCCCTGGAGCAGCAGCTGCGTGAGCTTATCCAGAAAGATGACATCACTGCCTCGCTGGTCACCACAGACCACTCAGAGATGAAGGTGGGCTGGGTGAGCAGGGTAGAGGGGCTCTGGCTCCGGGCCCCACCCTTAGGAGTCGAGGCCCTGAGTGTCCGTCCCTGGCCCCCACCCCTTCCTCAGAAGTTGTTCGAGGAGCAGCTGAAAAAGTATGACCAGCTGAAGGTGTACCTGGAGCAGAACCTGGCCGCCCAGGACCGTGTCCTCTGTGCACTGACAGAGGCCAACGTGCAGTACGCAGCCGTGCGGCGGGTACTCAGCGACTTGGACCAAAAGTCAGTGCCCAGTCCTCTGCTCTTTCCCGGAGCCACCTGGAGCCCAGCCCCATGGTTCACCTGGAGCTGGCCCTTCTGCCCACCAGGTGGAACTCCACGCTGCAGACCCTGGTGGCCTCGTATGAAGCCTATGAGGACCTGATGAAGAAGTCGCAGGAGGGCAGGGACTTCTACGCAGATCTGGAGAGCAAGGTGGCTGCTCTGCTGGAGCGCACGCAGTCCACCTGCCAGGCCCGCGAGGCTGCCCGCCAGCAGCTCCTGGACAGGTTTGTGTGGCCCTGGGGCTGTGGTGCGGCTCGGGTCCAGACAGGCTGGGGTGATGGGAGCCTGGCCCCACTTTTTCCTTGCCTGTCGCACAGGGAGCTGAAGAAGAAGCCGCCGCCACGGCCCACAGCCCCAAAGCCGCTGCTGCCCCGCAGGGAGGAGAGTGAGGCAGTGGAAGCAGGAGACCCCCCTGAGGAGCTGCGCAGCCTCCCCCCTGACATGGTGGCTGGCCCACGACTGCCTGACACCTTCCTGGGAAGTGCCACCCCGCTCCACTTTCCTCCCAGCCCCTTCCCCAGCTCCACAGGCCCAGGACCCCACTATCTCTCAGGCCCCTTGCCCCCTGGTACCTACTCGGGCCCCACCCAGCTGATACAGCCCAGGGCCCCAGGGCCCCATGCAATGCCCGTAGCACCTGGGCCTGCCCTCTACCCAGCCCCTGCCTACACACCGGAGCTGGGCCTTGTGCCCCGATCCTCCCCACAGCATGGCGTGGTGAGCAGTCCCTATGTGGGGGTAGGGCCGGCCCCACCAGTTGCAGGTCTCCCCTCGGCCCCACCTCCTCAATTCTCAGGCCCCGAGTTGGCCATGGCGGTTCGGCCAGCCACCACCACAGTAGATAGCATCCAGGCGCCCATCCCCAGCCACACAGCCCCACGGCCAAACCCCACCCCTGCTCCTCCCCCGCCCTGCTTCCCTGTGCCCCCACCGCAGCCACTGCCCACGCCTTACACCTACCCTGCAGGGGCTAAGCAACCCATCCCGGCACAGCACCACTTCTCTTCTGGGATCCCCGCAGGTTTTCCAGCCCCAAGGATTGGGCCCCAGCCCCAGCCCCATCCTCAGCCCCATCCTTCACAAGCGTTTGGGCCTCAGCCCCCACAGCAGCCCCTTCCACTCCAGCATCCACATCTCTTCCCACCCCAGGCCCCAGGACTCCTACCCCCACAATCCCCCTACCCCTATGCCCCTCAGCCTGGGGTCCTGGGGCAGCCGCCACCCCCCCTACACACCCAGCTCTACCCAGGTCCCGCTCAAGACCCTCTGCCAGCCCACTCAGGGGCTCTGCCTTTCCCCAGCCCTGGGCCCCCTCAGCCTCCCCATCCCCCACTGGCATATGGTCCTGCCCCTTCTACCAGACCCATGGGCCCCCAGGCAGCCCCTCTTACCATTCGAGGGCCCTCGTCTGCTGGCCAGTCCACCCCTAGTCCCCACCTGGTGCCTTCACCTGCCCCATCTCCAGGGCCTGGTCCGG
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Task1_train_6725
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A variant was discovered on Chromosome 3, affecting PTPN23 (protein tyrosine phosphatase non-receptor type 23). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity
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GACTGCCCACTCCCCCTGCTCCTGATCCCCAGGTACAATTCTGCCAAGAAGGACAACGACTTCATTTACCATGAGGCTGTCCCAGCATTGGACACTCTTCAGCCTGTAAAAGGTCGGGGAGCTGAGAGGTGGGGGCAGAGGTGACGGTGGGGTGGGGACAGGACACAGGAGGCTGCCTCAAGGACTCTGCGTGGGCCTGATCTCCACAATTCCCACCCCCCCAGGAGCCCCCTTGGTGAAGCCCTTGCCAGTGAACCCCACAGACCCAGCTGTTACAGGCCCTGACATCTTTGCCAAACTGGTACCCATGGCTGCCCACGAGGCCTCGTCACTGTACAGGTGGGTGGAGGGTGGCACAGAGGGAGGTGGGGTGTCTTGAGATGTGGGTCTTCAGCAAATGCTCTGTCGCTTCTGCAGTGAGGAGAAGGCCAAGCTGCTCCGGGAGATGATGGCCAAGATTGAGGACAAGAATGAGGTCCTGGAGTGAGTGTGGGACTTGGGCAGGGAGGCGGAGGCAGGCAGCACTTCCCGGGCCTCTGGGGGCCCCAGGGCTGCCTATGCTGGGAGAGGAATGAAATGTCCATTCCAAACAGGTTTCCCAATGCTGCCTTCCCGCCTGGGGTGGTGGGGCTAGTGTGTAAGGCAGGAGTCATGTCTTGGGAGGAGGAGGTGCCTTCTGTTCCACTGTTTCCAGCAGTGCCCTGGGCATGTTCTGTGAGACCAGGCCAGACCTGGTAGTAGGGGTCCGAGGTCACAATTTGCTCTCTGCTGAGACCTCAGATTGAGTGGTGAGGCTTGCCCTAGCGGCTCCTTTGACATGGTCAGAGTTGGATCAGCACCCAGCACCCACCTGGCCCTGTTGCTCCCCACAGCCAGTTCATGGATTCAATGCAGTTGGATCCCGAGACGGTGGACAACCTTGATGCCTACAGCCACATCCCACCCCAGCTCATGGAGAAGTGCGCGGCTCTCAGCGTCCGGCCCGACACTGTCAGGAACCTTGTACAGTCCATGCAAGGTGAGTAAGGGGCAGAGCAAGCAGGTGGAAGGGAGTGTGGAGGTCATCTGCTGTGGCCTCCTCCGTGTCCCTGGTCACTGAGGATGGAGGCTGCACCCCTCTAGGCCCTGGCTTGGGCATCCACACCCACTCCTCTGAATCAGCATACCTCTTGCACCCTGCTCAGTGTGCGCTGGGCCTCACTTAAGCCCTGACCTGAGGGGGCGGTTCTGTCTCTTGGGGGAGGGGCCCATGGGTGCCCGGTCAGCCTGCCTCAGGGGCTGCCTGTACAATCCACAACCCCAGTGCTGTCAGGTGTGTTCACGGATGTGGAGGCTTCCCTGAAGGACATCAGAGATCTGTTGGAGGAGGATGAGCTGCTAGAGCAGAAGTTTCAGGAGGCGGTGGGCCAGGCAGGGGCCATCTCCATCACCTCCAAGGCTGAGCTGGCAGAGGTGAGGCGAGAATGGGCCAAGTACATGGAAGTCCATGAGAAGGCCTCCTTCACCAACAGTGAGCTGCACCGTGCCATGAACCTGCACGTCGGCAACCTGCGCCTGCTCAGCGGGCCGCTTGACCAGGTCCGGGCTGCCCTGCCCACACCGGCCCTCTCCCCAGGTGAGCCCCACCAGACCCCATTGGGAGACTCGAGCTGGGGGTTTCTCTGGCCTCACTGACCACTGCTGCCCACAGAGGACAAGGCCGTGCTGCAAAACCTAAAGCGCATCCTGGCTAAGGTGCAGGAGATGCGGGACCAGCGCGTGTCCCTGGAGCAGCAGCTGCGTGAGCTTATCCAGAAAGATGACATCACTGCCTCGCTGGTCACCACAGACCACTCAGAGATGAAGGTGGGCTGGGTGAGCAGGGTAGAGGGGCTCTGGCTCCGGGCCCCACCCTTAGGAGTCGAGGCCCTGAGTGTCCGTCCCTGGCCCCCACCCCTTCCTCAGAAGTTGTTCGAGGAGCAGCTGAAAAAGTATGACCAGCTGAAGGTGTACCTGGAGCAGAACCTGGCCGCCCAGGACCGTGTCCTCTGTGCACTGACAGAGGCCAACGTGCAGTACGCAGCCGTGCGGCGGGTACTCAGCGACTTGGACCAAAAGTCAGTGCCCAGTCCTCTGCTCTTTCCCGGAGCCACCTGGAGCCCAGCCCCATGGTTCACCTGGAGCTGGCCCTTCTGCCCACCAGGTGGAACTCCACGCTGCAGACCCTGGTGGCCTCGTATGAAGCCTATGAGGACCTGATGAAGAAGTCGCAGGAGGGCAGGGACTTCTACGCAGATCTGGAGAGCAAGGTGGCTGCTCTGCTGGAGCGCACGCAGTCCACCTGCCAGGCCCGCGAGGCTGCCCGCCAGCAGCTCCTGGACAGGTTTGTGTGGCCCTGGGGCTGTGGTGCGGCTCGGGTCCAGACAGGCTGGGGTGATGGGAGCCTGGCCCCACTTTTTCCTTGCCTGTCGCACAGGGAGCTGAAGAAGAAGCCGCCGCCACGGCCCACAGCCCCAAAGCCGCTGCTGCCCCGCAGGGAGGAGAGTGAGGCAGTGGAAGCAGGAGACCCCCCTGAGGAGCTGCGCAGCCTCCCCCCTGACATGGTGGCTGGCCCACGACTGCCTGACACCTTCCTGGGAAGTGCCACCCCGCTCCACTTTCCTCCCAGCCCCTTCCCCAGCTCCACAGGCCCAGGACCCCACTATCTCTCAGGCCCCTTGCCCCCTGGTACCTACTCGGGCCCCACCCAGCTGATACAGCCCAGGGCCCCAGGGCCCCATGCAATGCCCGTAGCACCTGGGCCTGCCCTCTACCCAGCCCCTGCCTACACACCGGAGCTGGGCCTTGTGCCCCGATCCTCCCCACAGCATGGCGTGGTGAGCAGTCCCTATGTGGGGGTAGGGCCGGCCCCACCAGTTGCAGGTCTCCCCTCGGCCCCACCTCCTCAATTCTCAGGCCCCGAGTTGGCCATGGCGGTTCGGCCAGCCACCACCACAGTAGATAGCATCCAGGCGCCCATCCCCAGCCACACAGCCCCACGGCCAAACCCCACCCCTGCTCCTCCCCCGCCCTGCTTCCCTGTGCCCCCACCGCAGCCACTGCCCACGCCTTACACCTACCCTGCAGGGGCTAAGCAACCCATCCCGGCACAGCACCACTTCTCTTCTGGGATCCCCGCAGGTTTTCCAGCCCCAAGGATTGGGCCCCAGCCCCAGCCCCATCCTCAGCCCCATCCTTCACAAGCGTTTGGGCCTCAGCCCCCACAGCAGCCCCTTCCACTCCAGCATCCACATCTCTTCCCACCCCAGGCCCCAGGACTCCTACCCCCACAATCCCCCTACCCCTATGCCCCTCAGCCTGGGGTCCTGGGGCAGCCGCCACCCCCCCTACACACCCAGCTCTACCCAGGTCCCGCTCAAGACCCTCTGCCAGCCCACTCAGGGGCTCTGCCTTTCCCCAGCCCTGGGCCCCCTCAGCCTCCCCATCCCCCACTGGCATATGGTCCTGCCCCTTCTACCAGACCCATGGGCCCCCAGGCAGCCCCTCTTACCATTCGAGGGCCCTCGTCTGCTGGCCAGTCCACCCCTAGTCCCCACCTGGTGCCTTCACCTGCCCCATCTCCAGGGCCTGGTCCGGTACCCCCTCGCCCCCCAGCAGCAGAACCACCCCCTTGCCTGCGCCGAGGCGCCGCAGCTGCAGACCTGCTCTCCTCCAGCCCGGAGAGCCAGCATGGCGGCACTCAGTCTCCTGGGGGTGGGCAGCCCCTGCTGCAGCCCACCAAGGTGGATGCAGCTGAGGGTCGTCGGCCGCAGGCCCTGCGGCTGATTGAGCGGGACCCCTATGAGCATCCTGAGAGGCTGCGGCAGTTGCAGCAGGAGCTGGAGGCCTTTCGGGGTCAGCTGGGGGATGTGGGAGCTCTGGACACTGTCTGGCGAGAGCTGCAAGATGCGCAGGAACATGATGCCCGAGGCCGTTCCATCGCCATTGCCCGCTGCTACTCACTGAAGAACCGGCACCAGGATGTCATGCCCTATGACAGTAACCGTGTGGTGCTGCGCTCAGGCAAGGATGACTACATCAATGCCAGCTGCGTGGAGGGGCTCTCCCCATACTGCCC
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GACTGCCCACTCCCCCTGCTCCTGATCCCCAGGTACAATTCTGCCAAGAAGGACAACGACTTCATTTACCATGAGGCTGTCCCAGCATTGGACACTCTTCAGCCTGTAAAAGGTCGGGGAGCTGAGAGGTGGGGGCAGAGGTGACGGTGGGGTGGGGACAGGACACAGGAGGCTGCCTCAAGGACTCTGCGTGGGCCTGATCTCCACAATTCCCACCCCCCCAGGAGCCCCCTTGGTGAAGCCCTTGCCAGTGAACCCCACAGACCCAGCTGTTACAGGCCCTGACATCTTTGCCAAACTGGTACCCATGGCTGCCCACGAGGCCTCGTCACTGTACAGGTGGGTGGAGGGTGGCACAGAGGGAGGTGGGGTGTCTTGAGATGTGGGTCTTCAGCAAATGCTCTGTCGCTTCTGCAGTGAGGAGAAGGCCAAGCTGCTCCGGGAGATGATGGCCAAGATTGAGGACAAGAATGAGGTCCTGGAGTGAGTGTGGGACTTGGGCAGGGAGGCGGAGGCAGGCAGCACTTCCCGGGCCTCTGGGGGCCCCAGGGCTGCCTATGCTGGGAGAGGAATGAAATGTCCATTCCAAACAGGTTTCCCAATGCTGCCTTCCCGCCTGGGGTGGTGGGGCTAGTGTGTAAGGCAGGAGTCATGTCTTGGGAGGAGGAGGTGCCTTCTGTTCCACTGTTTCCAGCAGTGCCCTGGGCATGTTCTGTGAGACCAGGCCAGACCTGGTAGTAGGGGTCCGAGGTCACAATTTGCTCTCTGCTGAGACCTCAGATTGAGTGGTGAGGCTTGCCCTAGCGGCTCCTTTGACATGGTCAGAGTTGGATCAGCACCCAGCACCCACCTGGCCCTGTTGCTCCCCACAGCCAGTTCATGGATTCAATGCAGTTGGATCCCGAGACGGTGGACAACCTTGATGCCTACAGCCACATCCCACCCCAGCTCATGGAGAAGTGCGCGGCTCTCAGCGTCCGGCCCGACACTGTCAGGAACCTTGTACAGTCCATGCAAGGTGAGTAAGGGGCAGAGCAAGCAGGTGGAAGGGAGTGTGGAGGTCATCTGCTGTGGCCTCCTCCGTGTCCCTGGTCACTGAGGATGGAGGCTGCACCCCTCTAGGCCCTGGCTTGGGCATCCACACCCACTCCTCTGAATCAGCATACCTCTTGCACCCTGCTCAGTGTGCGCTGGGCCTCACTTAAGCCCTGACCTGAGGGGGCGGTTCTGTCTCTTGGGGGAGGGGCCCATGGGTGCCCGGTCAGCCTGCCTCAGGGGCTGCCTGTACAATCCACAACCCCAGTGCTGTCAGGTGTGTTCACGGATGTGGAGGCTTCCCTGAAGGACATCAGAGATCTGTTGGAGGAGGATGAGCTGCTAGAGCAGAAGTTTCAGGAGGCGGTGGGCCAGGCAGGGGCCATCTCCATCACCTCCAAGGCTGAGCTGGCAGAGGTGAGGCGAGAATGGGCCAAGTACATGGAAGTCCATGAGAAGGCCTCCTTCACCAACAGTGAGCTGCACCGTGCCATGAACCTGCACGTCGGCAACCTGCGCCTGCTCAGCGGGCCGCTTGACCAGGTCCGGGCTGCCCTGCCCACACCGGCCCTCTCCCCAGGTGAGCCCCACCAGACCCCATTGGGAGACTCGAGCTGGGGGTTTCTCTGGCCTCACTGACCACTGCTGCCCACAGAGGACAAGGCCGTGCTGCAAAACCTAAAGCGCATCCTGGCTAAGGTGCAGGAGATGCGGGACCAGCGCGTGTCCCTGGAGCAGCAGCTGCGTGAGCTTATCCAGAAAGATGACATCACTGCCTCGCTGGTCACCACAGACCACTCAGAGATGAAGGTGGGCTGGGTGAGCAGGGTAGAGGGGCTCTGGCTCCGGGCCCCACCCTTAGGAGTCGAGGCCCTGAGTGTCCGTCCCTGGCCCCCACCCCTTCCTCAGAAGTTGTTCGAGGAGCAGCTGAAAAAGTATGACCAGCTGAAGGTGTACCTGGAGCAGAACCTGGCCGCCCAGGACCGTGTCCTCTGTGCACTGACAGAGGCCAAGGTGCAGTACGCAGCCGTGCGGCGGGTACTCAGCGACTTGGACCAAAAGTCAGTGCCCAGTCCTCTGCTCTTTCCCGGAGCCACCTGGAGCCCAGCCCCATGGTTCACCTGGAGCTGGCCCTTCTGCCCACCAGGTGGAACTCCACGCTGCAGACCCTGGTGGCCTCGTATGAAGCCTATGAGGACCTGATGAAGAAGTCGCAGGAGGGCAGGGACTTCTACGCAGATCTGGAGAGCAAGGTGGCTGCTCTGCTGGAGCGCACGCAGTCCACCTGCCAGGCCCGCGAGGCTGCCCGCCAGCAGCTCCTGGACAGGTTTGTGTGGCCCTGGGGCTGTGGTGCGGCTCGGGTCCAGACAGGCTGGGGTGATGGGAGCCTGGCCCCACTTTTTCCTTGCCTGTCGCACAGGGAGCTGAAGAAGAAGCCGCCGCCACGGCCCACAGCCCCAAAGCCGCTGCTGCCCCGCAGGGAGGAGAGTGAGGCAGTGGAAGCAGGAGACCCCCCTGAGGAGCTGCGCAGCCTCCCCCCTGACATGGTGGCTGGCCCACGACTGCCTGACACCTTCCTGGGAAGTGCCACCCCGCTCCACTTTCCTCCCAGCCCCTTCCCCAGCTCCACAGGCCCAGGACCCCACTATCTCTCAGGCCCCTTGCCCCCTGGTACCTACTCGGGCCCCACCCAGCTGATACAGCCCAGGGCCCCAGGGCCCCATGCAATGCCCGTAGCACCTGGGCCTGCCCTCTACCCAGCCCCTGCCTACACACCGGAGCTGGGCCTTGTGCCCCGATCCTCCCCACAGCATGGCGTGGTGAGCAGTCCCTATGTGGGGGTAGGGCCGGCCCCACCAGTTGCAGGTCTCCCCTCGGCCCCACCTCCTCAATTCTCAGGCCCCGAGTTGGCCATGGCGGTTCGGCCAGCCACCACCACAGTAGATAGCATCCAGGCGCCCATCCCCAGCCACACAGCCCCACGGCCAAACCCCACCCCTGCTCCTCCCCCGCCCTGCTTCCCTGTGCCCCCACCGCAGCCACTGCCCACGCCTTACACCTACCCTGCAGGGGCTAAGCAACCCATCCCGGCACAGCACCACTTCTCTTCTGGGATCCCCGCAGGTTTTCCAGCCCCAAGGATTGGGCCCCAGCCCCAGCCCCATCCTCAGCCCCATCCTTCACAAGCGTTTGGGCCTCAGCCCCCACAGCAGCCCCTTCCACTCCAGCATCCACATCTCTTCCCACCCCAGGCCCCAGGACTCCTACCCCCACAATCCCCCTACCCCTATGCCCCTCAGCCTGGGGTCCTGGGGCAGCCGCCACCCCCCCTACACACCCAGCTCTACCCAGGTCCCGCTCAAGACCCTCTGCCAGCCCACTCAGGGGCTCTGCCTTTCCCCAGCCCTGGGCCCCCTCAGCCTCCCCATCCCCCACTGGCATATGGTCCTGCCCCTTCTACCAGACCCATGGGCCCCCAGGCAGCCCCTCTTACCATTCGAGGGCCCTCGTCTGCTGGCCAGTCCACCCCTAGTCCCCACCTGGTGCCTTCACCTGCCCCATCTCCAGGGCCTGGTCCGGTACCCCCTCGCCCCCCAGCAGCAGAACCACCCCCTTGCCTGCGCCGAGGCGCCGCAGCTGCAGACCTGCTCTCCTCCAGCCCGGAGAGCCAGCATGGCGGCACTCAGTCTCCTGGGGGTGGGCAGCCCCTGCTGCAGCCCACCAAGGTGGATGCAGCTGAGGGTCGTCGGCCGCAGGCCCTGCGGCTGATTGAGCGGGACCCCTATGAGCATCCTGAGAGGCTGCGGCAGTTGCAGCAGGAGCTGGAGGCCTTTCGGGGTCAGCTGGGGGATGTGGGAGCTCTGGACACTGTCTGGCGAGAGCTGCAAGATGCGCAGGAACATGATGCCCGAGGCCGTTCCATCGCCATTGCCCGCTGCTACTCACTGAAGAACCGGCACCAGGATGTCATGCCCTATGACAGTAACCGTGTGGTGCTGCGCTCAGGCAAGGATGACTACATCAATGCCAGCTGCGTGGAGGGGCTCTCCCCATACTGCCC
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Task1_train_6726
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With a mutation on Chromosome 3 in gene DHX30 (DExH-box helicase 30), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Neurodevelopmental disorder with severe motor impairment and absent language
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CCTGTCTGGGAAGGAGCAAGCTTTGCAGTGGCTGGAGGGCCATTTGTCAGTGAGGCTGGTGGGTAAAACCCATGAAGTCTGGGGAGAGGGCAGAAGCCTGTTCCTGCAGCAAGGAGCTTGTGTTGGCACCTCCTGTGGTATGAGGACCAGATTCCTGTCCTTTAGGTCCTTATAGCTGATGGTGCCAGCACGCCCAGAGGCAGGGGGTTGGCCCCTGTTGGGGGAAGACTTCTTTAAGGAGGGAGTGTTTGATCTGGGCTCCGAAGGGTGAGCAGAGTCCAGCCATTAGAGGTGACAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCCAGTGGCTTGTTTGATCAAGTTGCATTATAATCGACATTTACAGGAAATTCCACGTGCATCTGTATATGATGGGGTCACAGATGGGTCGGGTGCCATGTAGGGATTGGGAGGCGGGATGGAAGGATTAGGGGAGGAAGGCTTTGATGAGGCAGCAAAGGAAGAGGGAGTCTGTGGGGTGCGTTCTAGCATCGAGGGCCTGGCCTGGCTGGTCTGAGGGTACATGTTGGGAATTCACAGAGGTGACAGTGGCCTATTGTGGTGTTGGGGGGGCTGTAGCCACACAGTGAGTGGTTTCTCCTCAGGGCCTTCTCCAGACGTAGGGCTGTTCTGCTGTGACACATCAGGTTTAGCTTTTCTTGAATTAACTTTATTATTATTTTCTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCACCGTCATGATCTCGGCTCACTGCAACCTGTGTCTCCAGGGTTCAGGCGATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGACTATAGGTGCCGGCCCCCCACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACCCCTGACCTCAGGTGATTTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAATTAACTTTAGTTCATTTTTTAAAACGTTTATTTTGGTAAGTTAACATTTTCCTAGTTCATAATTTCTCCCTCCATCACCATGTCAGCCAAAATCCAAAATCTCTTAGAGATTACTTGGCACAACTTATGCGTTGGAGCTCCTGAGCTTGTCTGGGCTGGTTTTTGGGGAGCCCCAGAGCATAGACTGAGTCTTGCATGTCCCCCTGCAGAGCCTGGGCCTGGTGGACAGGAACAACGAACCGCTTACACACGCCATGTATAACCTGGCCTCTTTGCGTGAGCTGGGTGAGACCCAGCGCCGACCATGCACCATCCAGGTGCCCGAGCCCATCCTCCGCAAGATAGAGACCTTCCTGAACCATGTAAGAGGCCCTGCATCCCTCACCACCCCTGCTCCCTGTAGTCTGCCTCCATCTCTCCAGACTGAAGGCCTCCACCTGCGACAGGCAGTAGTACCTCCCCATTCTCTTCACTGAGTTTGGGGCCTGGGATCCCCCTGGCCTGAACAGCCCAGTCTTGCCCACAAGGATCCCGGGGCAGTCATGGACTAAATTAATCCTCTGCCCAGCGGGTTGGGCCACAACATCTGACCCAGGCGAATCCTGCAGAGTGGCTGGTTGTGTGTGAATGAGGAATTTCTTTTTCATTGTTTTGCTTGCCTCCCTGCCCTCCAGTACCCTGTGGAGAGTTCATGGATCGCCCCAGAACTCCGGCTGCAGAGTGATGACATCTTGCCCTTGGGCAAGGACTCAGGGCCTCTGAGTGACCCTATCACAGGCAAGCCCTATGTGCCCCTGTTGGAAGCAGAGGAGGTACGTCTCAGCCAGAGTCTGCTAGAACTGTGGCGGCGGCGAGGGCCGGTCTGGCAGGAGGCCCCCCAGCTACCTGTGGACCCACATCGGGACACCATCCTCAACGCCATTGAGCAGCACCCGGTGGTGGTCATCTCTGGGGACACGGGCTGTGGGAAGACCACGCGCATCCCCCAGCTGTTGCTGGAGCGCTATGTGACCGAGGGCCGAGGTGCCCGCTGCAATGTTATCATCACCCAACCTCGCCGCATCTCTGCTGTGTCTGTGGCACAGCGGGTCAGCCACGAACTGGGCCCCTCCCTGCGCCGGAATGTGGGCTTCCAGGTGCGGTTGGAAAGTAAGCCCCCATCCCGAGGCGGGGCCCTGCTCTTCTGCACTGTGGGTATCCTGCTGCGTAAGCTGCAGAGCAACCCCAGCCTGGAGGGCGTGAGCCACGTCATCGTGGATGAGGTGCATGAGCGGGACGTGAACACAGACTTTCTGCTGATCCTGCTCAAGGGCCTGCAGCGGCTCAACCCGGCCCTGCGGCTGGTGCTCATGAGTGCCACAGGGGACAATGAGCGCTTCTCCCGATACTTTGGTGGCTGCCCCGTCATCAAGGTGCCTGGCTTCATGTACCCAGTCAAGGAGCACTACCTAGAGGACATCCTGGCCAAGTTGGGCAAGCACCAGTACCTGCACCGGCACCGGCACCATGAGGTGAGGGACACCCCCATCCCACCCAAGGCTCCTGGCCTTTCCTCCGTGGATGCCCCTCCTCCCTGGCCCTGGGGCTTGGTGCCTGGGGCAAGTTACCCTCCCCAGTCCTCGGTTTCCTTGATAGAAACTGGGGACTAACCCTGCCTGCGTGGCACACGTGAGGATTGGAGTTGATGTCAAGCGGCTCCGTCTCACTGAGTCAGGTGGCTGTGTCCTTGGCATGACCCCTTACCCCGGGGCTGTGACTGTGGCCTCTCTTCCCCCACCCCAGTCTGAGGATGAATGCGCACTCGATTTGGACCTTGTGACTGATCTGGTTCTGCACATCGATGCTCGCGGGGAACCAGGTGGGTGCCTCCCCATCTGTCCCATGCTAGCCCTGGCCACGTTTGCAGCAACAGCTGGCTCATGCCCCAGGGCTCCTTTACAGGTGGGATCCTGTGCTTCCTGCCTGGGTGGCAGGAGATCAAAGGAGTGCAGCAGCGCCTCCAGGAGGCCCTGGGCATGCACGAGAGCAAGTACCTCATCCTGCCAGGTGAGAGCCCCGGCGGAGGGACCAGGGACCTTTGGAAACCAGCCTGACCTCTGTCCTAGGGACTGACCCAACTGGGACTCCAGGGGCCCCGGTTTCTGACCAAGCTGTGGCACTTTTCACTGGGCATAGTGTTTATCTGCGCCTGTTTCATCAAAATGGGGTCAAAATCCTTGCCCTGCCCACATTCCAGGGGGGAATTCTGGTGGAAGCAGTGCCCATAACTGGTGTGTGTCTTGCCCACCAGTGCACTCCAACATCCCCATGATGGATCAGAAGGCCATATTCCAGCAGCCTCCAGTTGGGGTGCGCAAGATTGTCTTGGCCACCAACATTGCTGAGACTTCCATCACAATCAATGACATCGTGCATGTGGTGGACAGTGGGCTGCACAAGGAAGAACGCTATGACCTGAAGACCAAGGTGGCACCTACCTCCTGGGCCCGGCCAACCACTGGGGGAGGGACTCCGTTTTGAGGTGGTCCCCAGCCCAGATCTACCTTAGACCTGCTTTGTGTGTCTTCAGAAGGCCGCGCTTGTGGGGTCTCAGTGTTCCTGATGTAGGGGGCTGGTGAGGGTTACTCAGGGAGTGGGGAAGCACTGAGGAAGTGGCATTTGTGTGCTGCTTACTTGCCACCTCCTCCAGGTGTCCTGCCTGGAGACAGTGTGGGTATCAAGAGCCAATGTGATCCAGCGCCGGGGCCGGGCGGGCCGCTGCCAGTCCGGCTTTGCCTACCACTTGTTCCCTCGAAGCCGGCTGGAGAAAATGGTCCCTTTCCAAGTGCCAGAGATCCTGCGCACACCTCTTGAGAACCTGGTGCTGCAAGCGAAAATCCACATGCCTGAGAAGACGGTGCGGCGGGGCGGGGCAGGGGCTGGCCTGGGGACCAGGCAGGTGGGAGGCAGGCTCATGGCGGGCTCTGGCTCTGTCATAGGCGGTGGAGTTCCTGTCCAAGGCTGTGGACAGTCCAAACAT
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CCTGTCTGGGAAGGAGCAAGCTTTGCAGTGGCTGGAGGGCCATTTGTCAGTGAGGCTGGTGGGTAAAACCCATGAAGTCTGGGGAGAGGGCAGAAGCCTGTTCCTGCAGCAAGGAGCTTGTGTTGGCACCTCCTGTGGTATGAGGACCAGATTCCTGTCCTTTAGGTCCTTATAGCTGATGGTGCCAGCACGCCCAGAGGCAGGGGGTTGGCCCCTGTTGGGGGAAGACTTCTTTAAGGAGGGAGTGTTTGATCTGGGCTCCGAAGGGTGAGCAGAGTCCAGCCATTAGAGGTGACAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCCAGTGGCTTGTTTGATCAAGTTGCATTATAATCGACATTTACAGGAAATTCCACGTGCATCTGTATATGATGGGGTCACAGATGGGTCGGGTGCCATGTAGGGATTGGGAGGCGGGATGGAAGGATTAGGGGAGGAAGGCTTTGATGAGGCAGCAAAGGAAGAGGGAGTCTGTGGGGTGCGTTCTAGCATCGAGGGCCTGGCCTGGCTGGTCTGAGGGTACATGTTGGGAATTCACAGAGGTGACAGTGGCCTATTGTGGTGTTGGGGGGGCTGTAGCCACACAGTGAGTGGTTTCTCCTCAGGGCCTTCTCCAGACGTAGGGCTGTTCTGCTGTGACACATCAGGTTTAGCTTTTCTTGAATTAACTTTATTATTATTTTCTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCACCGTCATGATCTCGGCTCACTGCAACCTGTGTCTCCAGGGTTCAGGCGATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGACTATAGGTGCCGGCCCCCCACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACCCCTGACCTCAGGTGATTTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAATTAACTTTAGTTCATTTTTTAAAACGTTTATTTTGGTAAGTTAACATTTTCCTAGTTCATAATTTCTCCCTCCATCACCATGTCAGCCAAAATCCAAAATCTCTTAGAGATTACTTGGCACAACTTATGCGTTGGAGCTCCTGAGCTTGTCTGGGCTGGTTTTTGGGGAGCCCCAGAGCATAGACTGAGTCTTGCATGTCCCCCTGCAGAGCCTGGGCCTGGTGGACAGGAACAACGAACCGCTTACACACGCCATGTATAACCTGGCCTCTTTGCGTGAGCTGGGTGAGACCCAGCGCCGACCATGCACCATCCAGGTGCCCGAGCCCATCCTCCGCAAGATAGAGACCTTCCTGAACCATGTAAGAGGCCCTGCATCCCTCACCACCCCTGCTCCCTGTAGTCTGCCTCCATCTCTCCAGACTGAAGGCCTCCACCTGCGACAGGCAGTAGTACCTCCCCATTCTCTTCACTGAGTTTGGGGCCTGGGATCCCCCTGGCCTGAACAGCCCAGTCTTGCCCACAAGGATCCCGGGGCAGTCATGGACTAAATTAATCCTCTGCCCAGCGGGTTGGGCCACAACATCTGACCCAGGCGAATCCTGCAGAGTGGCTGGTTGTGTGTGAATGAGGAATTTCTTTTTCATTGTTTTGCTTGCCTCCCTGCCCTCCAGTACCCTGTGGAGAGTTCATGGATCGCCCCAGAACTCCGGCTGCAGAGTGATGACATCTTGCCCTTGGGCAAGGACTCAGGGCCTCTGAGTGACCCTATCACAGGCAAGCCCTATGTGCCCCTGTTGGAAGCAGAGGAGGTACGTCTCAGCCAGAGTCTGCTAGAACTGTGGCGGCGGCGAGGGCCGGTCTGGCAGGAGGCCCCCCAGCTACCTGTGGACCCACATCGGGACACCATCCTCAACGCCATTGAGCAGCACCCGGTGGTGGTCATCTCTGGGGACACGGGCTGTGGGAAGGCCACGCGCATCCCCCAGCTGTTGCTGGAGCGCTATGTGACCGAGGGCCGAGGTGCCCGCTGCAATGTTATCATCACCCAACCTCGCCGCATCTCTGCTGTGTCTGTGGCACAGCGGGTCAGCCACGAACTGGGCCCCTCCCTGCGCCGGAATGTGGGCTTCCAGGTGCGGTTGGAAAGTAAGCCCCCATCCCGAGGCGGGGCCCTGCTCTTCTGCACTGTGGGTATCCTGCTGCGTAAGCTGCAGAGCAACCCCAGCCTGGAGGGCGTGAGCCACGTCATCGTGGATGAGGTGCATGAGCGGGACGTGAACACAGACTTTCTGCTGATCCTGCTCAAGGGCCTGCAGCGGCTCAACCCGGCCCTGCGGCTGGTGCTCATGAGTGCCACAGGGGACAATGAGCGCTTCTCCCGATACTTTGGTGGCTGCCCCGTCATCAAGGTGCCTGGCTTCATGTACCCAGTCAAGGAGCACTACCTAGAGGACATCCTGGCCAAGTTGGGCAAGCACCAGTACCTGCACCGGCACCGGCACCATGAGGTGAGGGACACCCCCATCCCACCCAAGGCTCCTGGCCTTTCCTCCGTGGATGCCCCTCCTCCCTGGCCCTGGGGCTTGGTGCCTGGGGCAAGTTACCCTCCCCAGTCCTCGGTTTCCTTGATAGAAACTGGGGACTAACCCTGCCTGCGTGGCACACGTGAGGATTGGAGTTGATGTCAAGCGGCTCCGTCTCACTGAGTCAGGTGGCTGTGTCCTTGGCATGACCCCTTACCCCGGGGCTGTGACTGTGGCCTCTCTTCCCCCACCCCAGTCTGAGGATGAATGCGCACTCGATTTGGACCTTGTGACTGATCTGGTTCTGCACATCGATGCTCGCGGGGAACCAGGTGGGTGCCTCCCCATCTGTCCCATGCTAGCCCTGGCCACGTTTGCAGCAACAGCTGGCTCATGCCCCAGGGCTCCTTTACAGGTGGGATCCTGTGCTTCCTGCCTGGGTGGCAGGAGATCAAAGGAGTGCAGCAGCGCCTCCAGGAGGCCCTGGGCATGCACGAGAGCAAGTACCTCATCCTGCCAGGTGAGAGCCCCGGCGGAGGGACCAGGGACCTTTGGAAACCAGCCTGACCTCTGTCCTAGGGACTGACCCAACTGGGACTCCAGGGGCCCCGGTTTCTGACCAAGCTGTGGCACTTTTCACTGGGCATAGTGTTTATCTGCGCCTGTTTCATCAAAATGGGGTCAAAATCCTTGCCCTGCCCACATTCCAGGGGGGAATTCTGGTGGAAGCAGTGCCCATAACTGGTGTGTGTCTTGCCCACCAGTGCACTCCAACATCCCCATGATGGATCAGAAGGCCATATTCCAGCAGCCTCCAGTTGGGGTGCGCAAGATTGTCTTGGCCACCAACATTGCTGAGACTTCCATCACAATCAATGACATCGTGCATGTGGTGGACAGTGGGCTGCACAAGGAAGAACGCTATGACCTGAAGACCAAGGTGGCACCTACCTCCTGGGCCCGGCCAACCACTGGGGGAGGGACTCCGTTTTGAGGTGGTCCCCAGCCCAGATCTACCTTAGACCTGCTTTGTGTGTCTTCAGAAGGCCGCGCTTGTGGGGTCTCAGTGTTCCTGATGTAGGGGGCTGGTGAGGGTTACTCAGGGAGTGGGGAAGCACTGAGGAAGTGGCATTTGTGTGCTGCTTACTTGCCACCTCCTCCAGGTGTCCTGCCTGGAGACAGTGTGGGTATCAAGAGCCAATGTGATCCAGCGCCGGGGCCGGGCGGGCCGCTGCCAGTCCGGCTTTGCCTACCACTTGTTCCCTCGAAGCCGGCTGGAGAAAATGGTCCCTTTCCAAGTGCCAGAGATCCTGCGCACACCTCTTGAGAACCTGGTGCTGCAAGCGAAAATCCACATGCCTGAGAAGACGGTGCGGCGGGGCGGGGCAGGGGCTGGCCTGGGGACCAGGCAGGTGGGAGGCAGGCTCATGGCGGGCTCTGGCTCTGTCATAGGCGGTGGAGTTCCTGTCCAAGGCTGTGGACAGTCCAAACAT
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Task1_train_6727
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Gene DHX30 (DExH-box helicase 30) on Chromosome 3 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Neurodevelopmental disorder with severe motor impairment and absent language
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GGCAGAAGCCTGTTCCTGCAGCAAGGAGCTTGTGTTGGCACCTCCTGTGGTATGAGGACCAGATTCCTGTCCTTTAGGTCCTTATAGCTGATGGTGCCAGCACGCCCAGAGGCAGGGGGTTGGCCCCTGTTGGGGGAAGACTTCTTTAAGGAGGGAGTGTTTGATCTGGGCTCCGAAGGGTGAGCAGAGTCCAGCCATTAGAGGTGACAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCCAGTGGCTTGTTTGATCAAGTTGCATTATAATCGACATTTACAGGAAATTCCACGTGCATCTGTATATGATGGGGTCACAGATGGGTCGGGTGCCATGTAGGGATTGGGAGGCGGGATGGAAGGATTAGGGGAGGAAGGCTTTGATGAGGCAGCAAAGGAAGAGGGAGTCTGTGGGGTGCGTTCTAGCATCGAGGGCCTGGCCTGGCTGGTCTGAGGGTACATGTTGGGAATTCACAGAGGTGACAGTGGCCTATTGTGGTGTTGGGGGGGCTGTAGCCACACAGTGAGTGGTTTCTCCTCAGGGCCTTCTCCAGACGTAGGGCTGTTCTGCTGTGACACATCAGGTTTAGCTTTTCTTGAATTAACTTTATTATTATTTTCTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCACCGTCATGATCTCGGCTCACTGCAACCTGTGTCTCCAGGGTTCAGGCGATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGACTATAGGTGCCGGCCCCCCACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACCCCTGACCTCAGGTGATTTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAATTAACTTTAGTTCATTTTTTAAAACGTTTATTTTGGTAAGTTAACATTTTCCTAGTTCATAATTTCTCCCTCCATCACCATGTCAGCCAAAATCCAAAATCTCTTAGAGATTACTTGGCACAACTTATGCGTTGGAGCTCCTGAGCTTGTCTGGGCTGGTTTTTGGGGAGCCCCAGAGCATAGACTGAGTCTTGCATGTCCCCCTGCAGAGCCTGGGCCTGGTGGACAGGAACAACGAACCGCTTACACACGCCATGTATAACCTGGCCTCTTTGCGTGAGCTGGGTGAGACCCAGCGCCGACCATGCACCATCCAGGTGCCCGAGCCCATCCTCCGCAAGATAGAGACCTTCCTGAACCATGTAAGAGGCCCTGCATCCCTCACCACCCCTGCTCCCTGTAGTCTGCCTCCATCTCTCCAGACTGAAGGCCTCCACCTGCGACAGGCAGTAGTACCTCCCCATTCTCTTCACTGAGTTTGGGGCCTGGGATCCCCCTGGCCTGAACAGCCCAGTCTTGCCCACAAGGATCCCGGGGCAGTCATGGACTAAATTAATCCTCTGCCCAGCGGGTTGGGCCACAACATCTGACCCAGGCGAATCCTGCAGAGTGGCTGGTTGTGTGTGAATGAGGAATTTCTTTTTCATTGTTTTGCTTGCCTCCCTGCCCTCCAGTACCCTGTGGAGAGTTCATGGATCGCCCCAGAACTCCGGCTGCAGAGTGATGACATCTTGCCCTTGGGCAAGGACTCAGGGCCTCTGAGTGACCCTATCACAGGCAAGCCCTATGTGCCCCTGTTGGAAGCAGAGGAGGTACGTCTCAGCCAGAGTCTGCTAGAACTGTGGCGGCGGCGAGGGCCGGTCTGGCAGGAGGCCCCCCAGCTACCTGTGGACCCACATCGGGACACCATCCTCAACGCCATTGAGCAGCACCCGGTGGTGGTCATCTCTGGGGACACGGGCTGTGGGAAGACCACGCGCATCCCCCAGCTGTTGCTGGAGCGCTATGTGACCGAGGGCCGAGGTGCCCGCTGCAATGTTATCATCACCCAACCTCGCCGCATCTCTGCTGTGTCTGTGGCACAGCGGGTCAGCCACGAACTGGGCCCCTCCCTGCGCCGGAATGTGGGCTTCCAGGTGCGGTTGGAAAGTAAGCCCCCATCCCGAGGCGGGGCCCTGCTCTTCTGCACTGTGGGTATCCTGCTGCGTAAGCTGCAGAGCAACCCCAGCCTGGAGGGCGTGAGCCACGTCATCGTGGATGAGGTGCATGAGCGGGACGTGAACACAGACTTTCTGCTGATCCTGCTCAAGGGCCTGCAGCGGCTCAACCCGGCCCTGCGGCTGGTGCTCATGAGTGCCACAGGGGACAATGAGCGCTTCTCCCGATACTTTGGTGGCTGCCCCGTCATCAAGGTGCCTGGCTTCATGTACCCAGTCAAGGAGCACTACCTAGAGGACATCCTGGCCAAGTTGGGCAAGCACCAGTACCTGCACCGGCACCGGCACCATGAGGTGAGGGACACCCCCATCCCACCCAAGGCTCCTGGCCTTTCCTCCGTGGATGCCCCTCCTCCCTGGCCCTGGGGCTTGGTGCCTGGGGCAAGTTACCCTCCCCAGTCCTCGGTTTCCTTGATAGAAACTGGGGACTAACCCTGCCTGCGTGGCACACGTGAGGATTGGAGTTGATGTCAAGCGGCTCCGTCTCACTGAGTCAGGTGGCTGTGTCCTTGGCATGACCCCTTACCCCGGGGCTGTGACTGTGGCCTCTCTTCCCCCACCCCAGTCTGAGGATGAATGCGCACTCGATTTGGACCTTGTGACTGATCTGGTTCTGCACATCGATGCTCGCGGGGAACCAGGTGGGTGCCTCCCCATCTGTCCCATGCTAGCCCTGGCCACGTTTGCAGCAACAGCTGGCTCATGCCCCAGGGCTCCTTTACAGGTGGGATCCTGTGCTTCCTGCCTGGGTGGCAGGAGATCAAAGGAGTGCAGCAGCGCCTCCAGGAGGCCCTGGGCATGCACGAGAGCAAGTACCTCATCCTGCCAGGTGAGAGCCCCGGCGGAGGGACCAGGGACCTTTGGAAACCAGCCTGACCTCTGTCCTAGGGACTGACCCAACTGGGACTCCAGGGGCCCCGGTTTCTGACCAAGCTGTGGCACTTTTCACTGGGCATAGTGTTTATCTGCGCCTGTTTCATCAAAATGGGGTCAAAATCCTTGCCCTGCCCACATTCCAGGGGGGAATTCTGGTGGAAGCAGTGCCCATAACTGGTGTGTGTCTTGCCCACCAGTGCACTCCAACATCCCCATGATGGATCAGAAGGCCATATTCCAGCAGCCTCCAGTTGGGGTGCGCAAGATTGTCTTGGCCACCAACATTGCTGAGACTTCCATCACAATCAATGACATCGTGCATGTGGTGGACAGTGGGCTGCACAAGGAAGAACGCTATGACCTGAAGACCAAGGTGGCACCTACCTCCTGGGCCCGGCCAACCACTGGGGGAGGGACTCCGTTTTGAGGTGGTCCCCAGCCCAGATCTACCTTAGACCTGCTTTGTGTGTCTTCAGAAGGCCGCGCTTGTGGGGTCTCAGTGTTCCTGATGTAGGGGGCTGGTGAGGGTTACTCAGGGAGTGGGGAAGCACTGAGGAAGTGGCATTTGTGTGCTGCTTACTTGCCACCTCCTCCAGGTGTCCTGCCTGGAGACAGTGTGGGTATCAAGAGCCAATGTGATCCAGCGCCGGGGCCGGGCGGGCCGCTGCCAGTCCGGCTTTGCCTACCACTTGTTCCCTCGAAGCCGGCTGGAGAAAATGGTCCCTTTCCAAGTGCCAGAGATCCTGCGCACACCTCTTGAGAACCTGGTGCTGCAAGCGAAAATCCACATGCCTGAGAAGACGGTGCGGCGGGGCGGGGCAGGGGCTGGCCTGGGGACCAGGCAGGTGGGAGGCAGGCTCATGGCGGGCTCTGGCTCTGTCATAGGCGGTGGAGTTCCTGTCCAAGGCTGTGGACAGTCCAAACATCAAGGCAGTGGACGAGGCTGTGATCTTGCTCCAGGAGATCGGTATGTAGGGGCTGGGCTGGGCTGGGCTGGGGAGTGGCTCTCGAGGG
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GGCAGAAGCCTGTTCCTGCAGCAAGGAGCTTGTGTTGGCACCTCCTGTGGTATGAGGACCAGATTCCTGTCCTTTAGGTCCTTATAGCTGATGGTGCCAGCACGCCCAGAGGCAGGGGGTTGGCCCCTGTTGGGGGAAGACTTCTTTAAGGAGGGAGTGTTTGATCTGGGCTCCGAAGGGTGAGCAGAGTCCAGCCATTAGAGGTGACAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCCAGTGGCTTGTTTGATCAAGTTGCATTATAATCGACATTTACAGGAAATTCCACGTGCATCTGTATATGATGGGGTCACAGATGGGTCGGGTGCCATGTAGGGATTGGGAGGCGGGATGGAAGGATTAGGGGAGGAAGGCTTTGATGAGGCAGCAAAGGAAGAGGGAGTCTGTGGGGTGCGTTCTAGCATCGAGGGCCTGGCCTGGCTGGTCTGAGGGTACATGTTGGGAATTCACAGAGGTGACAGTGGCCTATTGTGGTGTTGGGGGGGCTGTAGCCACACAGTGAGTGGTTTCTCCTCAGGGCCTTCTCCAGACGTAGGGCTGTTCTGCTGTGACACATCAGGTTTAGCTTTTCTTGAATTAACTTTATTATTATTTTCTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCACCGTCATGATCTCGGCTCACTGCAACCTGTGTCTCCAGGGTTCAGGCGATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGACTATAGGTGCCGGCCCCCCACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACCCCTGACCTCAGGTGATTTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAATTAACTTTAGTTCATTTTTTAAAACGTTTATTTTGGTAAGTTAACATTTTCCTAGTTCATAATTTCTCCCTCCATCACCATGTCAGCCAAAATCCAAAATCTCTTAGAGATTACTTGGCACAACTTATGCGTTGGAGCTCCTGAGCTTGTCTGGGCTGGTTTTTGGGGAGCCCCAGAGCATAGACTGAGTCTTGCATGTCCCCCTGCAGAGCCTGGGCCTGGTGGACAGGAACAACGAACCGCTTACACACGCCATGTATAACCTGGCCTCTTTGCGTGAGCTGGGTGAGACCCAGCGCCGACCATGCACCATCCAGGTGCCCGAGCCCATCCTCCGCAAGATAGAGACCTTCCTGAACCATGTAAGAGGCCCTGCATCCCTCACCACCCCTGCTCCCTGTAGTCTGCCTCCATCTCTCCAGACTGAAGGCCTCCACCTGCGACAGGCAGTAGTACCTCCCCATTCTCTTCACTGAGTTTGGGGCCTGGGATCCCCCTGGCCTGAACAGCCCAGTCTTGCCCACAAGGATCCCGGGGCAGTCATGGACTAAATTAATCCTCTGCCCAGCGGGTTGGGCCACAACATCTGACCCAGGCGAATCCTGCAGAGTGGCTGGTTGTGTGTGAATGAGGAATTTCTTTTTCATTGTTTTGCTTGCCTCCCTGCCCTCCAGTACCCTGTGGAGAGTTCATGGATCGCCCCAGAACTCCGGCTGCAGAGTGATGACATCTTGCCCTTGGGCAAGGACTCAGGGCCTCTGAGTGACCCTATCACAGGCAAGCCCTATGTGCCCCTGTTGGAAGCAGAGGAGGTACGTCTCAGCCAGAGTCTGCTAGAACTGTGGCGGCGGCGAGGGCCGGTCTGGCAGGAGGCCCCCCAGCTACCTGTGGACCCACATCGGGACACCATCCTCAACGCCATTGAGCAGCACCCGGTGGTGGTCATCTCTGGGGACACGGGCTGTGGGAAGACCACGCGCATCCCCCAGCTGTTGCTGGAGCGCTATGTGACCGAGGGCCGAGGTGCCCGCTGCAATGTTATCATCACCCAACCTCGCCACATCTCTGCTGTGTCTGTGGCACAGCGGGTCAGCCACGAACTGGGCCCCTCCCTGCGCCGGAATGTGGGCTTCCAGGTGCGGTTGGAAAGTAAGCCCCCATCCCGAGGCGGGGCCCTGCTCTTCTGCACTGTGGGTATCCTGCTGCGTAAGCTGCAGAGCAACCCCAGCCTGGAGGGCGTGAGCCACGTCATCGTGGATGAGGTGCATGAGCGGGACGTGAACACAGACTTTCTGCTGATCCTGCTCAAGGGCCTGCAGCGGCTCAACCCGGCCCTGCGGCTGGTGCTCATGAGTGCCACAGGGGACAATGAGCGCTTCTCCCGATACTTTGGTGGCTGCCCCGTCATCAAGGTGCCTGGCTTCATGTACCCAGTCAAGGAGCACTACCTAGAGGACATCCTGGCCAAGTTGGGCAAGCACCAGTACCTGCACCGGCACCGGCACCATGAGGTGAGGGACACCCCCATCCCACCCAAGGCTCCTGGCCTTTCCTCCGTGGATGCCCCTCCTCCCTGGCCCTGGGGCTTGGTGCCTGGGGCAAGTTACCCTCCCCAGTCCTCGGTTTCCTTGATAGAAACTGGGGACTAACCCTGCCTGCGTGGCACACGTGAGGATTGGAGTTGATGTCAAGCGGCTCCGTCTCACTGAGTCAGGTGGCTGTGTCCTTGGCATGACCCCTTACCCCGGGGCTGTGACTGTGGCCTCTCTTCCCCCACCCCAGTCTGAGGATGAATGCGCACTCGATTTGGACCTTGTGACTGATCTGGTTCTGCACATCGATGCTCGCGGGGAACCAGGTGGGTGCCTCCCCATCTGTCCCATGCTAGCCCTGGCCACGTTTGCAGCAACAGCTGGCTCATGCCCCAGGGCTCCTTTACAGGTGGGATCCTGTGCTTCCTGCCTGGGTGGCAGGAGATCAAAGGAGTGCAGCAGCGCCTCCAGGAGGCCCTGGGCATGCACGAGAGCAAGTACCTCATCCTGCCAGGTGAGAGCCCCGGCGGAGGGACCAGGGACCTTTGGAAACCAGCCTGACCTCTGTCCTAGGGACTGACCCAACTGGGACTCCAGGGGCCCCGGTTTCTGACCAAGCTGTGGCACTTTTCACTGGGCATAGTGTTTATCTGCGCCTGTTTCATCAAAATGGGGTCAAAATCCTTGCCCTGCCCACATTCCAGGGGGGAATTCTGGTGGAAGCAGTGCCCATAACTGGTGTGTGTCTTGCCCACCAGTGCACTCCAACATCCCCATGATGGATCAGAAGGCCATATTCCAGCAGCCTCCAGTTGGGGTGCGCAAGATTGTCTTGGCCACCAACATTGCTGAGACTTCCATCACAATCAATGACATCGTGCATGTGGTGGACAGTGGGCTGCACAAGGAAGAACGCTATGACCTGAAGACCAAGGTGGCACCTACCTCCTGGGCCCGGCCAACCACTGGGGGAGGGACTCCGTTTTGAGGTGGTCCCCAGCCCAGATCTACCTTAGACCTGCTTTGTGTGTCTTCAGAAGGCCGCGCTTGTGGGGTCTCAGTGTTCCTGATGTAGGGGGCTGGTGAGGGTTACTCAGGGAGTGGGGAAGCACTGAGGAAGTGGCATTTGTGTGCTGCTTACTTGCCACCTCCTCCAGGTGTCCTGCCTGGAGACAGTGTGGGTATCAAGAGCCAATGTGATCCAGCGCCGGGGCCGGGCGGGCCGCTGCCAGTCCGGCTTTGCCTACCACTTGTTCCCTCGAAGCCGGCTGGAGAAAATGGTCCCTTTCCAAGTGCCAGAGATCCTGCGCACACCTCTTGAGAACCTGGTGCTGCAAGCGAAAATCCACATGCCTGAGAAGACGGTGCGGCGGGGCGGGGCAGGGGCTGGCCTGGGGACCAGGCAGGTGGGAGGCAGGCTCATGGCGGGCTCTGGCTCTGTCATAGGCGGTGGAGTTCCTGTCCAAGGCTGTGGACAGTCCAAACATCAAGGCAGTGGACGAGGCTGTGATCTTGCTCCAGGAGATCGGTATGTAGGGGCTGGGCTGGGCTGGGCTGGGGAGTGGCTCTCGAGGG
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Task1_train_6728
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Mutation context: Chromosome 3, Gene DHX30 (DExH-box helicase 30). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Seizure
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GGCAGAAGCCTGTTCCTGCAGCAAGGAGCTTGTGTTGGCACCTCCTGTGGTATGAGGACCAGATTCCTGTCCTTTAGGTCCTTATAGCTGATGGTGCCAGCACGCCCAGAGGCAGGGGGTTGGCCCCTGTTGGGGGAAGACTTCTTTAAGGAGGGAGTGTTTGATCTGGGCTCCGAAGGGTGAGCAGAGTCCAGCCATTAGAGGTGACAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCCAGTGGCTTGTTTGATCAAGTTGCATTATAATCGACATTTACAGGAAATTCCACGTGCATCTGTATATGATGGGGTCACAGATGGGTCGGGTGCCATGTAGGGATTGGGAGGCGGGATGGAAGGATTAGGGGAGGAAGGCTTTGATGAGGCAGCAAAGGAAGAGGGAGTCTGTGGGGTGCGTTCTAGCATCGAGGGCCTGGCCTGGCTGGTCTGAGGGTACATGTTGGGAATTCACAGAGGTGACAGTGGCCTATTGTGGTGTTGGGGGGGCTGTAGCCACACAGTGAGTGGTTTCTCCTCAGGGCCTTCTCCAGACGTAGGGCTGTTCTGCTGTGACACATCAGGTTTAGCTTTTCTTGAATTAACTTTATTATTATTTTCTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCACCGTCATGATCTCGGCTCACTGCAACCTGTGTCTCCAGGGTTCAGGCGATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGACTATAGGTGCCGGCCCCCCACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACCCCTGACCTCAGGTGATTTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAATTAACTTTAGTTCATTTTTTAAAACGTTTATTTTGGTAAGTTAACATTTTCCTAGTTCATAATTTCTCCCTCCATCACCATGTCAGCCAAAATCCAAAATCTCTTAGAGATTACTTGGCACAACTTATGCGTTGGAGCTCCTGAGCTTGTCTGGGCTGGTTTTTGGGGAGCCCCAGAGCATAGACTGAGTCTTGCATGTCCCCCTGCAGAGCCTGGGCCTGGTGGACAGGAACAACGAACCGCTTACACACGCCATGTATAACCTGGCCTCTTTGCGTGAGCTGGGTGAGACCCAGCGCCGACCATGCACCATCCAGGTGCCCGAGCCCATCCTCCGCAAGATAGAGACCTTCCTGAACCATGTAAGAGGCCCTGCATCCCTCACCACCCCTGCTCCCTGTAGTCTGCCTCCATCTCTCCAGACTGAAGGCCTCCACCTGCGACAGGCAGTAGTACCTCCCCATTCTCTTCACTGAGTTTGGGGCCTGGGATCCCCCTGGCCTGAACAGCCCAGTCTTGCCCACAAGGATCCCGGGGCAGTCATGGACTAAATTAATCCTCTGCCCAGCGGGTTGGGCCACAACATCTGACCCAGGCGAATCCTGCAGAGTGGCTGGTTGTGTGTGAATGAGGAATTTCTTTTTCATTGTTTTGCTTGCCTCCCTGCCCTCCAGTACCCTGTGGAGAGTTCATGGATCGCCCCAGAACTCCGGCTGCAGAGTGATGACATCTTGCCCTTGGGCAAGGACTCAGGGCCTCTGAGTGACCCTATCACAGGCAAGCCCTATGTGCCCCTGTTGGAAGCAGAGGAGGTACGTCTCAGCCAGAGTCTGCTAGAACTGTGGCGGCGGCGAGGGCCGGTCTGGCAGGAGGCCCCCCAGCTACCTGTGGACCCACATCGGGACACCATCCTCAACGCCATTGAGCAGCACCCGGTGGTGGTCATCTCTGGGGACACGGGCTGTGGGAAGACCACGCGCATCCCCCAGCTGTTGCTGGAGCGCTATGTGACCGAGGGCCGAGGTGCCCGCTGCAATGTTATCATCACCCAACCTCGCCGCATCTCTGCTGTGTCTGTGGCACAGCGGGTCAGCCACGAACTGGGCCCCTCCCTGCGCCGGAATGTGGGCTTCCAGGTGCGGTTGGAAAGTAAGCCCCCATCCCGAGGCGGGGCCCTGCTCTTCTGCACTGTGGGTATCCTGCTGCGTAAGCTGCAGAGCAACCCCAGCCTGGAGGGCGTGAGCCACGTCATCGTGGATGAGGTGCATGAGCGGGACGTGAACACAGACTTTCTGCTGATCCTGCTCAAGGGCCTGCAGCGGCTCAACCCGGCCCTGCGGCTGGTGCTCATGAGTGCCACAGGGGACAATGAGCGCTTCTCCCGATACTTTGGTGGCTGCCCCGTCATCAAGGTGCCTGGCTTCATGTACCCAGTCAAGGAGCACTACCTAGAGGACATCCTGGCCAAGTTGGGCAAGCACCAGTACCTGCACCGGCACCGGCACCATGAGGTGAGGGACACCCCCATCCCACCCAAGGCTCCTGGCCTTTCCTCCGTGGATGCCCCTCCTCCCTGGCCCTGGGGCTTGGTGCCTGGGGCAAGTTACCCTCCCCAGTCCTCGGTTTCCTTGATAGAAACTGGGGACTAACCCTGCCTGCGTGGCACACGTGAGGATTGGAGTTGATGTCAAGCGGCTCCGTCTCACTGAGTCAGGTGGCTGTGTCCTTGGCATGACCCCTTACCCCGGGGCTGTGACTGTGGCCTCTCTTCCCCCACCCCAGTCTGAGGATGAATGCGCACTCGATTTGGACCTTGTGACTGATCTGGTTCTGCACATCGATGCTCGCGGGGAACCAGGTGGGTGCCTCCCCATCTGTCCCATGCTAGCCCTGGCCACGTTTGCAGCAACAGCTGGCTCATGCCCCAGGGCTCCTTTACAGGTGGGATCCTGTGCTTCCTGCCTGGGTGGCAGGAGATCAAAGGAGTGCAGCAGCGCCTCCAGGAGGCCCTGGGCATGCACGAGAGCAAGTACCTCATCCTGCCAGGTGAGAGCCCCGGCGGAGGGACCAGGGACCTTTGGAAACCAGCCTGACCTCTGTCCTAGGGACTGACCCAACTGGGACTCCAGGGGCCCCGGTTTCTGACCAAGCTGTGGCACTTTTCACTGGGCATAGTGTTTATCTGCGCCTGTTTCATCAAAATGGGGTCAAAATCCTTGCCCTGCCCACATTCCAGGGGGGAATTCTGGTGGAAGCAGTGCCCATAACTGGTGTGTGTCTTGCCCACCAGTGCACTCCAACATCCCCATGATGGATCAGAAGGCCATATTCCAGCAGCCTCCAGTTGGGGTGCGCAAGATTGTCTTGGCCACCAACATTGCTGAGACTTCCATCACAATCAATGACATCGTGCATGTGGTGGACAGTGGGCTGCACAAGGAAGAACGCTATGACCTGAAGACCAAGGTGGCACCTACCTCCTGGGCCCGGCCAACCACTGGGGGAGGGACTCCGTTTTGAGGTGGTCCCCAGCCCAGATCTACCTTAGACCTGCTTTGTGTGTCTTCAGAAGGCCGCGCTTGTGGGGTCTCAGTGTTCCTGATGTAGGGGGCTGGTGAGGGTTACTCAGGGAGTGGGGAAGCACTGAGGAAGTGGCATTTGTGTGCTGCTTACTTGCCACCTCCTCCAGGTGTCCTGCCTGGAGACAGTGTGGGTATCAAGAGCCAATGTGATCCAGCGCCGGGGCCGGGCGGGCCGCTGCCAGTCCGGCTTTGCCTACCACTTGTTCCCTCGAAGCCGGCTGGAGAAAATGGTCCCTTTCCAAGTGCCAGAGATCCTGCGCACACCTCTTGAGAACCTGGTGCTGCAAGCGAAAATCCACATGCCTGAGAAGACGGTGCGGCGGGGCGGGGCAGGGGCTGGCCTGGGGACCAGGCAGGTGGGAGGCAGGCTCATGGCGGGCTCTGGCTCTGTCATAGGCGGTGGAGTTCCTGTCCAAGGCTGTGGACAGTCCAAACATCAAGGCAGTGGACGAGGCTGTGATCTTGCTCCAGGAGATCGGTATGTAGGGGCTGGGCTGGGCTGGGCTGGGGAGTGGCTCTCGAGGG
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GGCAGAAGCCTGTTCCTGCAGCAAGGAGCTTGTGTTGGCACCTCCTGTGGTATGAGGACCAGATTCCTGTCCTTTAGGTCCTTATAGCTGATGGTGCCAGCACGCCCAGAGGCAGGGGGTTGGCCCCTGTTGGGGGAAGACTTCTTTAAGGAGGGAGTGTTTGATCTGGGCTCCGAAGGGTGAGCAGAGTCCAGCCATTAGAGGTGACAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCCAGTGGCTTGTTTGATCAAGTTGCATTATAATCGACATTTACAGGAAATTCCACGTGCATCTGTATATGATGGGGTCACAGATGGGTCGGGTGCCATGTAGGGATTGGGAGGCGGGATGGAAGGATTAGGGGAGGAAGGCTTTGATGAGGCAGCAAAGGAAGAGGGAGTCTGTGGGGTGCGTTCTAGCATCGAGGGCCTGGCCTGGCTGGTCTGAGGGTACATGTTGGGAATTCACAGAGGTGACAGTGGCCTATTGTGGTGTTGGGGGGGCTGTAGCCACACAGTGAGTGGTTTCTCCTCAGGGCCTTCTCCAGACGTAGGGCTGTTCTGCTGTGACACATCAGGTTTAGCTTTTCTTGAATTAACTTTATTATTATTTTCTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCACCGTCATGATCTCGGCTCACTGCAACCTGTGTCTCCAGGGTTCAGGCGATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGACTATAGGTGCCGGCCCCCCACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACCCCTGACCTCAGGTGATTTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAATTAACTTTAGTTCATTTTTTAAAACGTTTATTTTGGTAAGTTAACATTTTCCTAGTTCATAATTTCTCCCTCCATCACCATGTCAGCCAAAATCCAAAATCTCTTAGAGATTACTTGGCACAACTTATGCGTTGGAGCTCCTGAGCTTGTCTGGGCTGGTTTTTGGGGAGCCCCAGAGCATAGACTGAGTCTTGCATGTCCCCCTGCAGAGCCTGGGCCTGGTGGACAGGAACAACGAACCGCTTACACACGCCATGTATAACCTGGCCTCTTTGCGTGAGCTGGGTGAGACCCAGCGCCGACCATGCACCATCCAGGTGCCCGAGCCCATCCTCCGCAAGATAGAGACCTTCCTGAACCATGTAAGAGGCCCTGCATCCCTCACCACCCCTGCTCCCTGTAGTCTGCCTCCATCTCTCCAGACTGAAGGCCTCCACCTGCGACAGGCAGTAGTACCTCCCCATTCTCTTCACTGAGTTTGGGGCCTGGGATCCCCCTGGCCTGAACAGCCCAGTCTTGCCCACAAGGATCCCGGGGCAGTCATGGACTAAATTAATCCTCTGCCCAGCGGGTTGGGCCACAACATCTGACCCAGGCGAATCCTGCAGAGTGGCTGGTTGTGTGTGAATGAGGAATTTCTTTTTCATTGTTTTGCTTGCCTCCCTGCCCTCCAGTACCCTGTGGAGAGTTCATGGATCGCCCCAGAACTCCGGCTGCAGAGTGATGACATCTTGCCCTTGGGCAAGGACTCAGGGCCTCTGAGTGACCCTATCACAGGCAAGCCCTATGTGCCCCTGTTGGAAGCAGAGGAGGTACGTCTCAGCCAGAGTCTGCTAGAACTGTGGCGGCGGCGAGGGCCGGTCTGGCAGGAGGCCCCCCAGCTACCTGTGGACCCACATCGGGACACCATCCTCAACGCCATTGAGCAGCACCCGGTGGTGGTCATCTCTGGGGACACGGGCTGTGGGAAGACCACGCGCATCCCCCAGCTGTTGCTGGAGCGCTATGTGACCGAGGGCCGAGGTGCCCGCTGCAATGTTATCATCACCCAACCTCGCCACATCTCTGCTGTGTCTGTGGCACAGCGGGTCAGCCACGAACTGGGCCCCTCCCTGCGCCGGAATGTGGGCTTCCAGGTGCGGTTGGAAAGTAAGCCCCCATCCCGAGGCGGGGCCCTGCTCTTCTGCACTGTGGGTATCCTGCTGCGTAAGCTGCAGAGCAACCCCAGCCTGGAGGGCGTGAGCCACGTCATCGTGGATGAGGTGCATGAGCGGGACGTGAACACAGACTTTCTGCTGATCCTGCTCAAGGGCCTGCAGCGGCTCAACCCGGCCCTGCGGCTGGTGCTCATGAGTGCCACAGGGGACAATGAGCGCTTCTCCCGATACTTTGGTGGCTGCCCCGTCATCAAGGTGCCTGGCTTCATGTACCCAGTCAAGGAGCACTACCTAGAGGACATCCTGGCCAAGTTGGGCAAGCACCAGTACCTGCACCGGCACCGGCACCATGAGGTGAGGGACACCCCCATCCCACCCAAGGCTCCTGGCCTTTCCTCCGTGGATGCCCCTCCTCCCTGGCCCTGGGGCTTGGTGCCTGGGGCAAGTTACCCTCCCCAGTCCTCGGTTTCCTTGATAGAAACTGGGGACTAACCCTGCCTGCGTGGCACACGTGAGGATTGGAGTTGATGTCAAGCGGCTCCGTCTCACTGAGTCAGGTGGCTGTGTCCTTGGCATGACCCCTTACCCCGGGGCTGTGACTGTGGCCTCTCTTCCCCCACCCCAGTCTGAGGATGAATGCGCACTCGATTTGGACCTTGTGACTGATCTGGTTCTGCACATCGATGCTCGCGGGGAACCAGGTGGGTGCCTCCCCATCTGTCCCATGCTAGCCCTGGCCACGTTTGCAGCAACAGCTGGCTCATGCCCCAGGGCTCCTTTACAGGTGGGATCCTGTGCTTCCTGCCTGGGTGGCAGGAGATCAAAGGAGTGCAGCAGCGCCTCCAGGAGGCCCTGGGCATGCACGAGAGCAAGTACCTCATCCTGCCAGGTGAGAGCCCCGGCGGAGGGACCAGGGACCTTTGGAAACCAGCCTGACCTCTGTCCTAGGGACTGACCCAACTGGGACTCCAGGGGCCCCGGTTTCTGACCAAGCTGTGGCACTTTTCACTGGGCATAGTGTTTATCTGCGCCTGTTTCATCAAAATGGGGTCAAAATCCTTGCCCTGCCCACATTCCAGGGGGGAATTCTGGTGGAAGCAGTGCCCATAACTGGTGTGTGTCTTGCCCACCAGTGCACTCCAACATCCCCATGATGGATCAGAAGGCCATATTCCAGCAGCCTCCAGTTGGGGTGCGCAAGATTGTCTTGGCCACCAACATTGCTGAGACTTCCATCACAATCAATGACATCGTGCATGTGGTGGACAGTGGGCTGCACAAGGAAGAACGCTATGACCTGAAGACCAAGGTGGCACCTACCTCCTGGGCCCGGCCAACCACTGGGGGAGGGACTCCGTTTTGAGGTGGTCCCCAGCCCAGATCTACCTTAGACCTGCTTTGTGTGTCTTCAGAAGGCCGCGCTTGTGGGGTCTCAGTGTTCCTGATGTAGGGGGCTGGTGAGGGTTACTCAGGGAGTGGGGAAGCACTGAGGAAGTGGCATTTGTGTGCTGCTTACTTGCCACCTCCTCCAGGTGTCCTGCCTGGAGACAGTGTGGGTATCAAGAGCCAATGTGATCCAGCGCCGGGGCCGGGCGGGCCGCTGCCAGTCCGGCTTTGCCTACCACTTGTTCCCTCGAAGCCGGCTGGAGAAAATGGTCCCTTTCCAAGTGCCAGAGATCCTGCGCACACCTCTTGAGAACCTGGTGCTGCAAGCGAAAATCCACATGCCTGAGAAGACGGTGCGGCGGGGCGGGGCAGGGGCTGGCCTGGGGACCAGGCAGGTGGGAGGCAGGCTCATGGCGGGCTCTGGCTCTGTCATAGGCGGTGGAGTTCCTGTCCAAGGCTGTGGACAGTCCAAACATCAAGGCAGTGGACGAGGCTGTGATCTTGCTCCAGGAGATCGGTATGTAGGGGCTGGGCTGGGCTGGGCTGGGGAGTGGCTCTCGAGGG
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Task1_train_6729
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Given a variant located on Chromosome 3 and affecting DHX30 (DExH-box helicase 30), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Short stature
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GGCAGAAGCCTGTTCCTGCAGCAAGGAGCTTGTGTTGGCACCTCCTGTGGTATGAGGACCAGATTCCTGTCCTTTAGGTCCTTATAGCTGATGGTGCCAGCACGCCCAGAGGCAGGGGGTTGGCCCCTGTTGGGGGAAGACTTCTTTAAGGAGGGAGTGTTTGATCTGGGCTCCGAAGGGTGAGCAGAGTCCAGCCATTAGAGGTGACAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCCAGTGGCTTGTTTGATCAAGTTGCATTATAATCGACATTTACAGGAAATTCCACGTGCATCTGTATATGATGGGGTCACAGATGGGTCGGGTGCCATGTAGGGATTGGGAGGCGGGATGGAAGGATTAGGGGAGGAAGGCTTTGATGAGGCAGCAAAGGAAGAGGGAGTCTGTGGGGTGCGTTCTAGCATCGAGGGCCTGGCCTGGCTGGTCTGAGGGTACATGTTGGGAATTCACAGAGGTGACAGTGGCCTATTGTGGTGTTGGGGGGGCTGTAGCCACACAGTGAGTGGTTTCTCCTCAGGGCCTTCTCCAGACGTAGGGCTGTTCTGCTGTGACACATCAGGTTTAGCTTTTCTTGAATTAACTTTATTATTATTTTCTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCACCGTCATGATCTCGGCTCACTGCAACCTGTGTCTCCAGGGTTCAGGCGATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGACTATAGGTGCCGGCCCCCCACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACCCCTGACCTCAGGTGATTTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAATTAACTTTAGTTCATTTTTTAAAACGTTTATTTTGGTAAGTTAACATTTTCCTAGTTCATAATTTCTCCCTCCATCACCATGTCAGCCAAAATCCAAAATCTCTTAGAGATTACTTGGCACAACTTATGCGTTGGAGCTCCTGAGCTTGTCTGGGCTGGTTTTTGGGGAGCCCCAGAGCATAGACTGAGTCTTGCATGTCCCCCTGCAGAGCCTGGGCCTGGTGGACAGGAACAACGAACCGCTTACACACGCCATGTATAACCTGGCCTCTTTGCGTGAGCTGGGTGAGACCCAGCGCCGACCATGCACCATCCAGGTGCCCGAGCCCATCCTCCGCAAGATAGAGACCTTCCTGAACCATGTAAGAGGCCCTGCATCCCTCACCACCCCTGCTCCCTGTAGTCTGCCTCCATCTCTCCAGACTGAAGGCCTCCACCTGCGACAGGCAGTAGTACCTCCCCATTCTCTTCACTGAGTTTGGGGCCTGGGATCCCCCTGGCCTGAACAGCCCAGTCTTGCCCACAAGGATCCCGGGGCAGTCATGGACTAAATTAATCCTCTGCCCAGCGGGTTGGGCCACAACATCTGACCCAGGCGAATCCTGCAGAGTGGCTGGTTGTGTGTGAATGAGGAATTTCTTTTTCATTGTTTTGCTTGCCTCCCTGCCCTCCAGTACCCTGTGGAGAGTTCATGGATCGCCCCAGAACTCCGGCTGCAGAGTGATGACATCTTGCCCTTGGGCAAGGACTCAGGGCCTCTGAGTGACCCTATCACAGGCAAGCCCTATGTGCCCCTGTTGGAAGCAGAGGAGGTACGTCTCAGCCAGAGTCTGCTAGAACTGTGGCGGCGGCGAGGGCCGGTCTGGCAGGAGGCCCCCCAGCTACCTGTGGACCCACATCGGGACACCATCCTCAACGCCATTGAGCAGCACCCGGTGGTGGTCATCTCTGGGGACACGGGCTGTGGGAAGACCACGCGCATCCCCCAGCTGTTGCTGGAGCGCTATGTGACCGAGGGCCGAGGTGCCCGCTGCAATGTTATCATCACCCAACCTCGCCGCATCTCTGCTGTGTCTGTGGCACAGCGGGTCAGCCACGAACTGGGCCCCTCCCTGCGCCGGAATGTGGGCTTCCAGGTGCGGTTGGAAAGTAAGCCCCCATCCCGAGGCGGGGCCCTGCTCTTCTGCACTGTGGGTATCCTGCTGCGTAAGCTGCAGAGCAACCCCAGCCTGGAGGGCGTGAGCCACGTCATCGTGGATGAGGTGCATGAGCGGGACGTGAACACAGACTTTCTGCTGATCCTGCTCAAGGGCCTGCAGCGGCTCAACCCGGCCCTGCGGCTGGTGCTCATGAGTGCCACAGGGGACAATGAGCGCTTCTCCCGATACTTTGGTGGCTGCCCCGTCATCAAGGTGCCTGGCTTCATGTACCCAGTCAAGGAGCACTACCTAGAGGACATCCTGGCCAAGTTGGGCAAGCACCAGTACCTGCACCGGCACCGGCACCATGAGGTGAGGGACACCCCCATCCCACCCAAGGCTCCTGGCCTTTCCTCCGTGGATGCCCCTCCTCCCTGGCCCTGGGGCTTGGTGCCTGGGGCAAGTTACCCTCCCCAGTCCTCGGTTTCCTTGATAGAAACTGGGGACTAACCCTGCCTGCGTGGCACACGTGAGGATTGGAGTTGATGTCAAGCGGCTCCGTCTCACTGAGTCAGGTGGCTGTGTCCTTGGCATGACCCCTTACCCCGGGGCTGTGACTGTGGCCTCTCTTCCCCCACCCCAGTCTGAGGATGAATGCGCACTCGATTTGGACCTTGTGACTGATCTGGTTCTGCACATCGATGCTCGCGGGGAACCAGGTGGGTGCCTCCCCATCTGTCCCATGCTAGCCCTGGCCACGTTTGCAGCAACAGCTGGCTCATGCCCCAGGGCTCCTTTACAGGTGGGATCCTGTGCTTCCTGCCTGGGTGGCAGGAGATCAAAGGAGTGCAGCAGCGCCTCCAGGAGGCCCTGGGCATGCACGAGAGCAAGTACCTCATCCTGCCAGGTGAGAGCCCCGGCGGAGGGACCAGGGACCTTTGGAAACCAGCCTGACCTCTGTCCTAGGGACTGACCCAACTGGGACTCCAGGGGCCCCGGTTTCTGACCAAGCTGTGGCACTTTTCACTGGGCATAGTGTTTATCTGCGCCTGTTTCATCAAAATGGGGTCAAAATCCTTGCCCTGCCCACATTCCAGGGGGGAATTCTGGTGGAAGCAGTGCCCATAACTGGTGTGTGTCTTGCCCACCAGTGCACTCCAACATCCCCATGATGGATCAGAAGGCCATATTCCAGCAGCCTCCAGTTGGGGTGCGCAAGATTGTCTTGGCCACCAACATTGCTGAGACTTCCATCACAATCAATGACATCGTGCATGTGGTGGACAGTGGGCTGCACAAGGAAGAACGCTATGACCTGAAGACCAAGGTGGCACCTACCTCCTGGGCCCGGCCAACCACTGGGGGAGGGACTCCGTTTTGAGGTGGTCCCCAGCCCAGATCTACCTTAGACCTGCTTTGTGTGTCTTCAGAAGGCCGCGCTTGTGGGGTCTCAGTGTTCCTGATGTAGGGGGCTGGTGAGGGTTACTCAGGGAGTGGGGAAGCACTGAGGAAGTGGCATTTGTGTGCTGCTTACTTGCCACCTCCTCCAGGTGTCCTGCCTGGAGACAGTGTGGGTATCAAGAGCCAATGTGATCCAGCGCCGGGGCCGGGCGGGCCGCTGCCAGTCCGGCTTTGCCTACCACTTGTTCCCTCGAAGCCGGCTGGAGAAAATGGTCCCTTTCCAAGTGCCAGAGATCCTGCGCACACCTCTTGAGAACCTGGTGCTGCAAGCGAAAATCCACATGCCTGAGAAGACGGTGCGGCGGGGCGGGGCAGGGGCTGGCCTGGGGACCAGGCAGGTGGGAGGCAGGCTCATGGCGGGCTCTGGCTCTGTCATAGGCGGTGGAGTTCCTGTCCAAGGCTGTGGACAGTCCAAACATCAAGGCAGTGGACGAGGCTGTGATCTTGCTCCAGGAGATCGGTATGTAGGGGCTGGGCTGGGCTGGGCTGGGGAGTGGCTCTCGAGGG
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GGCAGAAGCCTGTTCCTGCAGCAAGGAGCTTGTGTTGGCACCTCCTGTGGTATGAGGACCAGATTCCTGTCCTTTAGGTCCTTATAGCTGATGGTGCCAGCACGCCCAGAGGCAGGGGGTTGGCCCCTGTTGGGGGAAGACTTCTTTAAGGAGGGAGTGTTTGATCTGGGCTCCGAAGGGTGAGCAGAGTCCAGCCATTAGAGGTGACAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCCAGTGGCTTGTTTGATCAAGTTGCATTATAATCGACATTTACAGGAAATTCCACGTGCATCTGTATATGATGGGGTCACAGATGGGTCGGGTGCCATGTAGGGATTGGGAGGCGGGATGGAAGGATTAGGGGAGGAAGGCTTTGATGAGGCAGCAAAGGAAGAGGGAGTCTGTGGGGTGCGTTCTAGCATCGAGGGCCTGGCCTGGCTGGTCTGAGGGTACATGTTGGGAATTCACAGAGGTGACAGTGGCCTATTGTGGTGTTGGGGGGGCTGTAGCCACACAGTGAGTGGTTTCTCCTCAGGGCCTTCTCCAGACGTAGGGCTGTTCTGCTGTGACACATCAGGTTTAGCTTTTCTTGAATTAACTTTATTATTATTTTCTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCACCGTCATGATCTCGGCTCACTGCAACCTGTGTCTCCAGGGTTCAGGCGATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGACTATAGGTGCCGGCCCCCCACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACCCCTGACCTCAGGTGATTTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAATTAACTTTAGTTCATTTTTTAAAACGTTTATTTTGGTAAGTTAACATTTTCCTAGTTCATAATTTCTCCCTCCATCACCATGTCAGCCAAAATCCAAAATCTCTTAGAGATTACTTGGCACAACTTATGCGTTGGAGCTCCTGAGCTTGTCTGGGCTGGTTTTTGGGGAGCCCCAGAGCATAGACTGAGTCTTGCATGTCCCCCTGCAGAGCCTGGGCCTGGTGGACAGGAACAACGAACCGCTTACACACGCCATGTATAACCTGGCCTCTTTGCGTGAGCTGGGTGAGACCCAGCGCCGACCATGCACCATCCAGGTGCCCGAGCCCATCCTCCGCAAGATAGAGACCTTCCTGAACCATGTAAGAGGCCCTGCATCCCTCACCACCCCTGCTCCCTGTAGTCTGCCTCCATCTCTCCAGACTGAAGGCCTCCACCTGCGACAGGCAGTAGTACCTCCCCATTCTCTTCACTGAGTTTGGGGCCTGGGATCCCCCTGGCCTGAACAGCCCAGTCTTGCCCACAAGGATCCCGGGGCAGTCATGGACTAAATTAATCCTCTGCCCAGCGGGTTGGGCCACAACATCTGACCCAGGCGAATCCTGCAGAGTGGCTGGTTGTGTGTGAATGAGGAATTTCTTTTTCATTGTTTTGCTTGCCTCCCTGCCCTCCAGTACCCTGTGGAGAGTTCATGGATCGCCCCAGAACTCCGGCTGCAGAGTGATGACATCTTGCCCTTGGGCAAGGACTCAGGGCCTCTGAGTGACCCTATCACAGGCAAGCCCTATGTGCCCCTGTTGGAAGCAGAGGAGGTACGTCTCAGCCAGAGTCTGCTAGAACTGTGGCGGCGGCGAGGGCCGGTCTGGCAGGAGGCCCCCCAGCTACCTGTGGACCCACATCGGGACACCATCCTCAACGCCATTGAGCAGCACCCGGTGGTGGTCATCTCTGGGGACACGGGCTGTGGGAAGACCACGCGCATCCCCCAGCTGTTGCTGGAGCGCTATGTGACCGAGGGCCGAGGTGCCCGCTGCAATGTTATCATCACCCAACCTCGCCACATCTCTGCTGTGTCTGTGGCACAGCGGGTCAGCCACGAACTGGGCCCCTCCCTGCGCCGGAATGTGGGCTTCCAGGTGCGGTTGGAAAGTAAGCCCCCATCCCGAGGCGGGGCCCTGCTCTTCTGCACTGTGGGTATCCTGCTGCGTAAGCTGCAGAGCAACCCCAGCCTGGAGGGCGTGAGCCACGTCATCGTGGATGAGGTGCATGAGCGGGACGTGAACACAGACTTTCTGCTGATCCTGCTCAAGGGCCTGCAGCGGCTCAACCCGGCCCTGCGGCTGGTGCTCATGAGTGCCACAGGGGACAATGAGCGCTTCTCCCGATACTTTGGTGGCTGCCCCGTCATCAAGGTGCCTGGCTTCATGTACCCAGTCAAGGAGCACTACCTAGAGGACATCCTGGCCAAGTTGGGCAAGCACCAGTACCTGCACCGGCACCGGCACCATGAGGTGAGGGACACCCCCATCCCACCCAAGGCTCCTGGCCTTTCCTCCGTGGATGCCCCTCCTCCCTGGCCCTGGGGCTTGGTGCCTGGGGCAAGTTACCCTCCCCAGTCCTCGGTTTCCTTGATAGAAACTGGGGACTAACCCTGCCTGCGTGGCACACGTGAGGATTGGAGTTGATGTCAAGCGGCTCCGTCTCACTGAGTCAGGTGGCTGTGTCCTTGGCATGACCCCTTACCCCGGGGCTGTGACTGTGGCCTCTCTTCCCCCACCCCAGTCTGAGGATGAATGCGCACTCGATTTGGACCTTGTGACTGATCTGGTTCTGCACATCGATGCTCGCGGGGAACCAGGTGGGTGCCTCCCCATCTGTCCCATGCTAGCCCTGGCCACGTTTGCAGCAACAGCTGGCTCATGCCCCAGGGCTCCTTTACAGGTGGGATCCTGTGCTTCCTGCCTGGGTGGCAGGAGATCAAAGGAGTGCAGCAGCGCCTCCAGGAGGCCCTGGGCATGCACGAGAGCAAGTACCTCATCCTGCCAGGTGAGAGCCCCGGCGGAGGGACCAGGGACCTTTGGAAACCAGCCTGACCTCTGTCCTAGGGACTGACCCAACTGGGACTCCAGGGGCCCCGGTTTCTGACCAAGCTGTGGCACTTTTCACTGGGCATAGTGTTTATCTGCGCCTGTTTCATCAAAATGGGGTCAAAATCCTTGCCCTGCCCACATTCCAGGGGGGAATTCTGGTGGAAGCAGTGCCCATAACTGGTGTGTGTCTTGCCCACCAGTGCACTCCAACATCCCCATGATGGATCAGAAGGCCATATTCCAGCAGCCTCCAGTTGGGGTGCGCAAGATTGTCTTGGCCACCAACATTGCTGAGACTTCCATCACAATCAATGACATCGTGCATGTGGTGGACAGTGGGCTGCACAAGGAAGAACGCTATGACCTGAAGACCAAGGTGGCACCTACCTCCTGGGCCCGGCCAACCACTGGGGGAGGGACTCCGTTTTGAGGTGGTCCCCAGCCCAGATCTACCTTAGACCTGCTTTGTGTGTCTTCAGAAGGCCGCGCTTGTGGGGTCTCAGTGTTCCTGATGTAGGGGGCTGGTGAGGGTTACTCAGGGAGTGGGGAAGCACTGAGGAAGTGGCATTTGTGTGCTGCTTACTTGCCACCTCCTCCAGGTGTCCTGCCTGGAGACAGTGTGGGTATCAAGAGCCAATGTGATCCAGCGCCGGGGCCGGGCGGGCCGCTGCCAGTCCGGCTTTGCCTACCACTTGTTCCCTCGAAGCCGGCTGGAGAAAATGGTCCCTTTCCAAGTGCCAGAGATCCTGCGCACACCTCTTGAGAACCTGGTGCTGCAAGCGAAAATCCACATGCCTGAGAAGACGGTGCGGCGGGGCGGGGCAGGGGCTGGCCTGGGGACCAGGCAGGTGGGAGGCAGGCTCATGGCGGGCTCTGGCTCTGTCATAGGCGGTGGAGTTCCTGTCCAAGGCTGTGGACAGTCCAAACATCAAGGCAGTGGACGAGGCTGTGATCTTGCTCCAGGAGATCGGTATGTAGGGGCTGGGCTGGGCTGGGCTGGGGAGTGGCTCTCGAGGG
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Task1_train_6730
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This variant lies on Chromosome 3 and affects the gene DHX30 (DExH-box helicase 30). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Microcephaly
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GGCAGAAGCCTGTTCCTGCAGCAAGGAGCTTGTGTTGGCACCTCCTGTGGTATGAGGACCAGATTCCTGTCCTTTAGGTCCTTATAGCTGATGGTGCCAGCACGCCCAGAGGCAGGGGGTTGGCCCCTGTTGGGGGAAGACTTCTTTAAGGAGGGAGTGTTTGATCTGGGCTCCGAAGGGTGAGCAGAGTCCAGCCATTAGAGGTGACAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCCAGTGGCTTGTTTGATCAAGTTGCATTATAATCGACATTTACAGGAAATTCCACGTGCATCTGTATATGATGGGGTCACAGATGGGTCGGGTGCCATGTAGGGATTGGGAGGCGGGATGGAAGGATTAGGGGAGGAAGGCTTTGATGAGGCAGCAAAGGAAGAGGGAGTCTGTGGGGTGCGTTCTAGCATCGAGGGCCTGGCCTGGCTGGTCTGAGGGTACATGTTGGGAATTCACAGAGGTGACAGTGGCCTATTGTGGTGTTGGGGGGGCTGTAGCCACACAGTGAGTGGTTTCTCCTCAGGGCCTTCTCCAGACGTAGGGCTGTTCTGCTGTGACACATCAGGTTTAGCTTTTCTTGAATTAACTTTATTATTATTTTCTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCACCGTCATGATCTCGGCTCACTGCAACCTGTGTCTCCAGGGTTCAGGCGATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGACTATAGGTGCCGGCCCCCCACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACCCCTGACCTCAGGTGATTTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAATTAACTTTAGTTCATTTTTTAAAACGTTTATTTTGGTAAGTTAACATTTTCCTAGTTCATAATTTCTCCCTCCATCACCATGTCAGCCAAAATCCAAAATCTCTTAGAGATTACTTGGCACAACTTATGCGTTGGAGCTCCTGAGCTTGTCTGGGCTGGTTTTTGGGGAGCCCCAGAGCATAGACTGAGTCTTGCATGTCCCCCTGCAGAGCCTGGGCCTGGTGGACAGGAACAACGAACCGCTTACACACGCCATGTATAACCTGGCCTCTTTGCGTGAGCTGGGTGAGACCCAGCGCCGACCATGCACCATCCAGGTGCCCGAGCCCATCCTCCGCAAGATAGAGACCTTCCTGAACCATGTAAGAGGCCCTGCATCCCTCACCACCCCTGCTCCCTGTAGTCTGCCTCCATCTCTCCAGACTGAAGGCCTCCACCTGCGACAGGCAGTAGTACCTCCCCATTCTCTTCACTGAGTTTGGGGCCTGGGATCCCCCTGGCCTGAACAGCCCAGTCTTGCCCACAAGGATCCCGGGGCAGTCATGGACTAAATTAATCCTCTGCCCAGCGGGTTGGGCCACAACATCTGACCCAGGCGAATCCTGCAGAGTGGCTGGTTGTGTGTGAATGAGGAATTTCTTTTTCATTGTTTTGCTTGCCTCCCTGCCCTCCAGTACCCTGTGGAGAGTTCATGGATCGCCCCAGAACTCCGGCTGCAGAGTGATGACATCTTGCCCTTGGGCAAGGACTCAGGGCCTCTGAGTGACCCTATCACAGGCAAGCCCTATGTGCCCCTGTTGGAAGCAGAGGAGGTACGTCTCAGCCAGAGTCTGCTAGAACTGTGGCGGCGGCGAGGGCCGGTCTGGCAGGAGGCCCCCCAGCTACCTGTGGACCCACATCGGGACACCATCCTCAACGCCATTGAGCAGCACCCGGTGGTGGTCATCTCTGGGGACACGGGCTGTGGGAAGACCACGCGCATCCCCCAGCTGTTGCTGGAGCGCTATGTGACCGAGGGCCGAGGTGCCCGCTGCAATGTTATCATCACCCAACCTCGCCGCATCTCTGCTGTGTCTGTGGCACAGCGGGTCAGCCACGAACTGGGCCCCTCCCTGCGCCGGAATGTGGGCTTCCAGGTGCGGTTGGAAAGTAAGCCCCCATCCCGAGGCGGGGCCCTGCTCTTCTGCACTGTGGGTATCCTGCTGCGTAAGCTGCAGAGCAACCCCAGCCTGGAGGGCGTGAGCCACGTCATCGTGGATGAGGTGCATGAGCGGGACGTGAACACAGACTTTCTGCTGATCCTGCTCAAGGGCCTGCAGCGGCTCAACCCGGCCCTGCGGCTGGTGCTCATGAGTGCCACAGGGGACAATGAGCGCTTCTCCCGATACTTTGGTGGCTGCCCCGTCATCAAGGTGCCTGGCTTCATGTACCCAGTCAAGGAGCACTACCTAGAGGACATCCTGGCCAAGTTGGGCAAGCACCAGTACCTGCACCGGCACCGGCACCATGAGGTGAGGGACACCCCCATCCCACCCAAGGCTCCTGGCCTTTCCTCCGTGGATGCCCCTCCTCCCTGGCCCTGGGGCTTGGTGCCTGGGGCAAGTTACCCTCCCCAGTCCTCGGTTTCCTTGATAGAAACTGGGGACTAACCCTGCCTGCGTGGCACACGTGAGGATTGGAGTTGATGTCAAGCGGCTCCGTCTCACTGAGTCAGGTGGCTGTGTCCTTGGCATGACCCCTTACCCCGGGGCTGTGACTGTGGCCTCTCTTCCCCCACCCCAGTCTGAGGATGAATGCGCACTCGATTTGGACCTTGTGACTGATCTGGTTCTGCACATCGATGCTCGCGGGGAACCAGGTGGGTGCCTCCCCATCTGTCCCATGCTAGCCCTGGCCACGTTTGCAGCAACAGCTGGCTCATGCCCCAGGGCTCCTTTACAGGTGGGATCCTGTGCTTCCTGCCTGGGTGGCAGGAGATCAAAGGAGTGCAGCAGCGCCTCCAGGAGGCCCTGGGCATGCACGAGAGCAAGTACCTCATCCTGCCAGGTGAGAGCCCCGGCGGAGGGACCAGGGACCTTTGGAAACCAGCCTGACCTCTGTCCTAGGGACTGACCCAACTGGGACTCCAGGGGCCCCGGTTTCTGACCAAGCTGTGGCACTTTTCACTGGGCATAGTGTTTATCTGCGCCTGTTTCATCAAAATGGGGTCAAAATCCTTGCCCTGCCCACATTCCAGGGGGGAATTCTGGTGGAAGCAGTGCCCATAACTGGTGTGTGTCTTGCCCACCAGTGCACTCCAACATCCCCATGATGGATCAGAAGGCCATATTCCAGCAGCCTCCAGTTGGGGTGCGCAAGATTGTCTTGGCCACCAACATTGCTGAGACTTCCATCACAATCAATGACATCGTGCATGTGGTGGACAGTGGGCTGCACAAGGAAGAACGCTATGACCTGAAGACCAAGGTGGCACCTACCTCCTGGGCCCGGCCAACCACTGGGGGAGGGACTCCGTTTTGAGGTGGTCCCCAGCCCAGATCTACCTTAGACCTGCTTTGTGTGTCTTCAGAAGGCCGCGCTTGTGGGGTCTCAGTGTTCCTGATGTAGGGGGCTGGTGAGGGTTACTCAGGGAGTGGGGAAGCACTGAGGAAGTGGCATTTGTGTGCTGCTTACTTGCCACCTCCTCCAGGTGTCCTGCCTGGAGACAGTGTGGGTATCAAGAGCCAATGTGATCCAGCGCCGGGGCCGGGCGGGCCGCTGCCAGTCCGGCTTTGCCTACCACTTGTTCCCTCGAAGCCGGCTGGAGAAAATGGTCCCTTTCCAAGTGCCAGAGATCCTGCGCACACCTCTTGAGAACCTGGTGCTGCAAGCGAAAATCCACATGCCTGAGAAGACGGTGCGGCGGGGCGGGGCAGGGGCTGGCCTGGGGACCAGGCAGGTGGGAGGCAGGCTCATGGCGGGCTCTGGCTCTGTCATAGGCGGTGGAGTTCCTGTCCAAGGCTGTGGACAGTCCAAACATCAAGGCAGTGGACGAGGCTGTGATCTTGCTCCAGGAGATCGGTATGTAGGGGCTGGGCTGGGCTGGGCTGGGGAGTGGCTCTCGAGGG
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GGCAGAAGCCTGTTCCTGCAGCAAGGAGCTTGTGTTGGCACCTCCTGTGGTATGAGGACCAGATTCCTGTCCTTTAGGTCCTTATAGCTGATGGTGCCAGCACGCCCAGAGGCAGGGGGTTGGCCCCTGTTGGGGGAAGACTTCTTTAAGGAGGGAGTGTTTGATCTGGGCTCCGAAGGGTGAGCAGAGTCCAGCCATTAGAGGTGACAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCCAGTGGCTTGTTTGATCAAGTTGCATTATAATCGACATTTACAGGAAATTCCACGTGCATCTGTATATGATGGGGTCACAGATGGGTCGGGTGCCATGTAGGGATTGGGAGGCGGGATGGAAGGATTAGGGGAGGAAGGCTTTGATGAGGCAGCAAAGGAAGAGGGAGTCTGTGGGGTGCGTTCTAGCATCGAGGGCCTGGCCTGGCTGGTCTGAGGGTACATGTTGGGAATTCACAGAGGTGACAGTGGCCTATTGTGGTGTTGGGGGGGCTGTAGCCACACAGTGAGTGGTTTCTCCTCAGGGCCTTCTCCAGACGTAGGGCTGTTCTGCTGTGACACATCAGGTTTAGCTTTTCTTGAATTAACTTTATTATTATTTTCTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCACCGTCATGATCTCGGCTCACTGCAACCTGTGTCTCCAGGGTTCAGGCGATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGACTATAGGTGCCGGCCCCCCACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACCCCTGACCTCAGGTGATTTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAATTAACTTTAGTTCATTTTTTAAAACGTTTATTTTGGTAAGTTAACATTTTCCTAGTTCATAATTTCTCCCTCCATCACCATGTCAGCCAAAATCCAAAATCTCTTAGAGATTACTTGGCACAACTTATGCGTTGGAGCTCCTGAGCTTGTCTGGGCTGGTTTTTGGGGAGCCCCAGAGCATAGACTGAGTCTTGCATGTCCCCCTGCAGAGCCTGGGCCTGGTGGACAGGAACAACGAACCGCTTACACACGCCATGTATAACCTGGCCTCTTTGCGTGAGCTGGGTGAGACCCAGCGCCGACCATGCACCATCCAGGTGCCCGAGCCCATCCTCCGCAAGATAGAGACCTTCCTGAACCATGTAAGAGGCCCTGCATCCCTCACCACCCCTGCTCCCTGTAGTCTGCCTCCATCTCTCCAGACTGAAGGCCTCCACCTGCGACAGGCAGTAGTACCTCCCCATTCTCTTCACTGAGTTTGGGGCCTGGGATCCCCCTGGCCTGAACAGCCCAGTCTTGCCCACAAGGATCCCGGGGCAGTCATGGACTAAATTAATCCTCTGCCCAGCGGGTTGGGCCACAACATCTGACCCAGGCGAATCCTGCAGAGTGGCTGGTTGTGTGTGAATGAGGAATTTCTTTTTCATTGTTTTGCTTGCCTCCCTGCCCTCCAGTACCCTGTGGAGAGTTCATGGATCGCCCCAGAACTCCGGCTGCAGAGTGATGACATCTTGCCCTTGGGCAAGGACTCAGGGCCTCTGAGTGACCCTATCACAGGCAAGCCCTATGTGCCCCTGTTGGAAGCAGAGGAGGTACGTCTCAGCCAGAGTCTGCTAGAACTGTGGCGGCGGCGAGGGCCGGTCTGGCAGGAGGCCCCCCAGCTACCTGTGGACCCACATCGGGACACCATCCTCAACGCCATTGAGCAGCACCCGGTGGTGGTCATCTCTGGGGACACGGGCTGTGGGAAGACCACGCGCATCCCCCAGCTGTTGCTGGAGCGCTATGTGACCGAGGGCCGAGGTGCCCGCTGCAATGTTATCATCACCCAACCTCGCCACATCTCTGCTGTGTCTGTGGCACAGCGGGTCAGCCACGAACTGGGCCCCTCCCTGCGCCGGAATGTGGGCTTCCAGGTGCGGTTGGAAAGTAAGCCCCCATCCCGAGGCGGGGCCCTGCTCTTCTGCACTGTGGGTATCCTGCTGCGTAAGCTGCAGAGCAACCCCAGCCTGGAGGGCGTGAGCCACGTCATCGTGGATGAGGTGCATGAGCGGGACGTGAACACAGACTTTCTGCTGATCCTGCTCAAGGGCCTGCAGCGGCTCAACCCGGCCCTGCGGCTGGTGCTCATGAGTGCCACAGGGGACAATGAGCGCTTCTCCCGATACTTTGGTGGCTGCCCCGTCATCAAGGTGCCTGGCTTCATGTACCCAGTCAAGGAGCACTACCTAGAGGACATCCTGGCCAAGTTGGGCAAGCACCAGTACCTGCACCGGCACCGGCACCATGAGGTGAGGGACACCCCCATCCCACCCAAGGCTCCTGGCCTTTCCTCCGTGGATGCCCCTCCTCCCTGGCCCTGGGGCTTGGTGCCTGGGGCAAGTTACCCTCCCCAGTCCTCGGTTTCCTTGATAGAAACTGGGGACTAACCCTGCCTGCGTGGCACACGTGAGGATTGGAGTTGATGTCAAGCGGCTCCGTCTCACTGAGTCAGGTGGCTGTGTCCTTGGCATGACCCCTTACCCCGGGGCTGTGACTGTGGCCTCTCTTCCCCCACCCCAGTCTGAGGATGAATGCGCACTCGATTTGGACCTTGTGACTGATCTGGTTCTGCACATCGATGCTCGCGGGGAACCAGGTGGGTGCCTCCCCATCTGTCCCATGCTAGCCCTGGCCACGTTTGCAGCAACAGCTGGCTCATGCCCCAGGGCTCCTTTACAGGTGGGATCCTGTGCTTCCTGCCTGGGTGGCAGGAGATCAAAGGAGTGCAGCAGCGCCTCCAGGAGGCCCTGGGCATGCACGAGAGCAAGTACCTCATCCTGCCAGGTGAGAGCCCCGGCGGAGGGACCAGGGACCTTTGGAAACCAGCCTGACCTCTGTCCTAGGGACTGACCCAACTGGGACTCCAGGGGCCCCGGTTTCTGACCAAGCTGTGGCACTTTTCACTGGGCATAGTGTTTATCTGCGCCTGTTTCATCAAAATGGGGTCAAAATCCTTGCCCTGCCCACATTCCAGGGGGGAATTCTGGTGGAAGCAGTGCCCATAACTGGTGTGTGTCTTGCCCACCAGTGCACTCCAACATCCCCATGATGGATCAGAAGGCCATATTCCAGCAGCCTCCAGTTGGGGTGCGCAAGATTGTCTTGGCCACCAACATTGCTGAGACTTCCATCACAATCAATGACATCGTGCATGTGGTGGACAGTGGGCTGCACAAGGAAGAACGCTATGACCTGAAGACCAAGGTGGCACCTACCTCCTGGGCCCGGCCAACCACTGGGGGAGGGACTCCGTTTTGAGGTGGTCCCCAGCCCAGATCTACCTTAGACCTGCTTTGTGTGTCTTCAGAAGGCCGCGCTTGTGGGGTCTCAGTGTTCCTGATGTAGGGGGCTGGTGAGGGTTACTCAGGGAGTGGGGAAGCACTGAGGAAGTGGCATTTGTGTGCTGCTTACTTGCCACCTCCTCCAGGTGTCCTGCCTGGAGACAGTGTGGGTATCAAGAGCCAATGTGATCCAGCGCCGGGGCCGGGCGGGCCGCTGCCAGTCCGGCTTTGCCTACCACTTGTTCCCTCGAAGCCGGCTGGAGAAAATGGTCCCTTTCCAAGTGCCAGAGATCCTGCGCACACCTCTTGAGAACCTGGTGCTGCAAGCGAAAATCCACATGCCTGAGAAGACGGTGCGGCGGGGCGGGGCAGGGGCTGGCCTGGGGACCAGGCAGGTGGGAGGCAGGCTCATGGCGGGCTCTGGCTCTGTCATAGGCGGTGGAGTTCCTGTCCAAGGCTGTGGACAGTCCAAACATCAAGGCAGTGGACGAGGCTGTGATCTTGCTCCAGGAGATCGGTATGTAGGGGCTGGGCTGGGCTGGGCTGGGGAGTGGCTCTCGAGGG
|
Task1_train_6731
|
A genomic change on Chromosome 3 affects DHX30 (DExH-box helicase 30). Classify this variant as benign or pathogenic, and name the disease if relevant.
|
Pathogenic; Strabismus
|
GGCAGAAGCCTGTTCCTGCAGCAAGGAGCTTGTGTTGGCACCTCCTGTGGTATGAGGACCAGATTCCTGTCCTTTAGGTCCTTATAGCTGATGGTGCCAGCACGCCCAGAGGCAGGGGGTTGGCCCCTGTTGGGGGAAGACTTCTTTAAGGAGGGAGTGTTTGATCTGGGCTCCGAAGGGTGAGCAGAGTCCAGCCATTAGAGGTGACAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCCAGTGGCTTGTTTGATCAAGTTGCATTATAATCGACATTTACAGGAAATTCCACGTGCATCTGTATATGATGGGGTCACAGATGGGTCGGGTGCCATGTAGGGATTGGGAGGCGGGATGGAAGGATTAGGGGAGGAAGGCTTTGATGAGGCAGCAAAGGAAGAGGGAGTCTGTGGGGTGCGTTCTAGCATCGAGGGCCTGGCCTGGCTGGTCTGAGGGTACATGTTGGGAATTCACAGAGGTGACAGTGGCCTATTGTGGTGTTGGGGGGGCTGTAGCCACACAGTGAGTGGTTTCTCCTCAGGGCCTTCTCCAGACGTAGGGCTGTTCTGCTGTGACACATCAGGTTTAGCTTTTCTTGAATTAACTTTATTATTATTTTCTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCACCGTCATGATCTCGGCTCACTGCAACCTGTGTCTCCAGGGTTCAGGCGATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGACTATAGGTGCCGGCCCCCCACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACCCCTGACCTCAGGTGATTTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAATTAACTTTAGTTCATTTTTTAAAACGTTTATTTTGGTAAGTTAACATTTTCCTAGTTCATAATTTCTCCCTCCATCACCATGTCAGCCAAAATCCAAAATCTCTTAGAGATTACTTGGCACAACTTATGCGTTGGAGCTCCTGAGCTTGTCTGGGCTGGTTTTTGGGGAGCCCCAGAGCATAGACTGAGTCTTGCATGTCCCCCTGCAGAGCCTGGGCCTGGTGGACAGGAACAACGAACCGCTTACACACGCCATGTATAACCTGGCCTCTTTGCGTGAGCTGGGTGAGACCCAGCGCCGACCATGCACCATCCAGGTGCCCGAGCCCATCCTCCGCAAGATAGAGACCTTCCTGAACCATGTAAGAGGCCCTGCATCCCTCACCACCCCTGCTCCCTGTAGTCTGCCTCCATCTCTCCAGACTGAAGGCCTCCACCTGCGACAGGCAGTAGTACCTCCCCATTCTCTTCACTGAGTTTGGGGCCTGGGATCCCCCTGGCCTGAACAGCCCAGTCTTGCCCACAAGGATCCCGGGGCAGTCATGGACTAAATTAATCCTCTGCCCAGCGGGTTGGGCCACAACATCTGACCCAGGCGAATCCTGCAGAGTGGCTGGTTGTGTGTGAATGAGGAATTTCTTTTTCATTGTTTTGCTTGCCTCCCTGCCCTCCAGTACCCTGTGGAGAGTTCATGGATCGCCCCAGAACTCCGGCTGCAGAGTGATGACATCTTGCCCTTGGGCAAGGACTCAGGGCCTCTGAGTGACCCTATCACAGGCAAGCCCTATGTGCCCCTGTTGGAAGCAGAGGAGGTACGTCTCAGCCAGAGTCTGCTAGAACTGTGGCGGCGGCGAGGGCCGGTCTGGCAGGAGGCCCCCCAGCTACCTGTGGACCCACATCGGGACACCATCCTCAACGCCATTGAGCAGCACCCGGTGGTGGTCATCTCTGGGGACACGGGCTGTGGGAAGACCACGCGCATCCCCCAGCTGTTGCTGGAGCGCTATGTGACCGAGGGCCGAGGTGCCCGCTGCAATGTTATCATCACCCAACCTCGCCGCATCTCTGCTGTGTCTGTGGCACAGCGGGTCAGCCACGAACTGGGCCCCTCCCTGCGCCGGAATGTGGGCTTCCAGGTGCGGTTGGAAAGTAAGCCCCCATCCCGAGGCGGGGCCCTGCTCTTCTGCACTGTGGGTATCCTGCTGCGTAAGCTGCAGAGCAACCCCAGCCTGGAGGGCGTGAGCCACGTCATCGTGGATGAGGTGCATGAGCGGGACGTGAACACAGACTTTCTGCTGATCCTGCTCAAGGGCCTGCAGCGGCTCAACCCGGCCCTGCGGCTGGTGCTCATGAGTGCCACAGGGGACAATGAGCGCTTCTCCCGATACTTTGGTGGCTGCCCCGTCATCAAGGTGCCTGGCTTCATGTACCCAGTCAAGGAGCACTACCTAGAGGACATCCTGGCCAAGTTGGGCAAGCACCAGTACCTGCACCGGCACCGGCACCATGAGGTGAGGGACACCCCCATCCCACCCAAGGCTCCTGGCCTTTCCTCCGTGGATGCCCCTCCTCCCTGGCCCTGGGGCTTGGTGCCTGGGGCAAGTTACCCTCCCCAGTCCTCGGTTTCCTTGATAGAAACTGGGGACTAACCCTGCCTGCGTGGCACACGTGAGGATTGGAGTTGATGTCAAGCGGCTCCGTCTCACTGAGTCAGGTGGCTGTGTCCTTGGCATGACCCCTTACCCCGGGGCTGTGACTGTGGCCTCTCTTCCCCCACCCCAGTCTGAGGATGAATGCGCACTCGATTTGGACCTTGTGACTGATCTGGTTCTGCACATCGATGCTCGCGGGGAACCAGGTGGGTGCCTCCCCATCTGTCCCATGCTAGCCCTGGCCACGTTTGCAGCAACAGCTGGCTCATGCCCCAGGGCTCCTTTACAGGTGGGATCCTGTGCTTCCTGCCTGGGTGGCAGGAGATCAAAGGAGTGCAGCAGCGCCTCCAGGAGGCCCTGGGCATGCACGAGAGCAAGTACCTCATCCTGCCAGGTGAGAGCCCCGGCGGAGGGACCAGGGACCTTTGGAAACCAGCCTGACCTCTGTCCTAGGGACTGACCCAACTGGGACTCCAGGGGCCCCGGTTTCTGACCAAGCTGTGGCACTTTTCACTGGGCATAGTGTTTATCTGCGCCTGTTTCATCAAAATGGGGTCAAAATCCTTGCCCTGCCCACATTCCAGGGGGGAATTCTGGTGGAAGCAGTGCCCATAACTGGTGTGTGTCTTGCCCACCAGTGCACTCCAACATCCCCATGATGGATCAGAAGGCCATATTCCAGCAGCCTCCAGTTGGGGTGCGCAAGATTGTCTTGGCCACCAACATTGCTGAGACTTCCATCACAATCAATGACATCGTGCATGTGGTGGACAGTGGGCTGCACAAGGAAGAACGCTATGACCTGAAGACCAAGGTGGCACCTACCTCCTGGGCCCGGCCAACCACTGGGGGAGGGACTCCGTTTTGAGGTGGTCCCCAGCCCAGATCTACCTTAGACCTGCTTTGTGTGTCTTCAGAAGGCCGCGCTTGTGGGGTCTCAGTGTTCCTGATGTAGGGGGCTGGTGAGGGTTACTCAGGGAGTGGGGAAGCACTGAGGAAGTGGCATTTGTGTGCTGCTTACTTGCCACCTCCTCCAGGTGTCCTGCCTGGAGACAGTGTGGGTATCAAGAGCCAATGTGATCCAGCGCCGGGGCCGGGCGGGCCGCTGCCAGTCCGGCTTTGCCTACCACTTGTTCCCTCGAAGCCGGCTGGAGAAAATGGTCCCTTTCCAAGTGCCAGAGATCCTGCGCACACCTCTTGAGAACCTGGTGCTGCAAGCGAAAATCCACATGCCTGAGAAGACGGTGCGGCGGGGCGGGGCAGGGGCTGGCCTGGGGACCAGGCAGGTGGGAGGCAGGCTCATGGCGGGCTCTGGCTCTGTCATAGGCGGTGGAGTTCCTGTCCAAGGCTGTGGACAGTCCAAACATCAAGGCAGTGGACGAGGCTGTGATCTTGCTCCAGGAGATCGGTATGTAGGGGCTGGGCTGGGCTGGGCTGGGGAGTGGCTCTCGAGGG
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GGCAGAAGCCTGTTCCTGCAGCAAGGAGCTTGTGTTGGCACCTCCTGTGGTATGAGGACCAGATTCCTGTCCTTTAGGTCCTTATAGCTGATGGTGCCAGCACGCCCAGAGGCAGGGGGTTGGCCCCTGTTGGGGGAAGACTTCTTTAAGGAGGGAGTGTTTGATCTGGGCTCCGAAGGGTGAGCAGAGTCCAGCCATTAGAGGTGACAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCCAGTGGCTTGTTTGATCAAGTTGCATTATAATCGACATTTACAGGAAATTCCACGTGCATCTGTATATGATGGGGTCACAGATGGGTCGGGTGCCATGTAGGGATTGGGAGGCGGGATGGAAGGATTAGGGGAGGAAGGCTTTGATGAGGCAGCAAAGGAAGAGGGAGTCTGTGGGGTGCGTTCTAGCATCGAGGGCCTGGCCTGGCTGGTCTGAGGGTACATGTTGGGAATTCACAGAGGTGACAGTGGCCTATTGTGGTGTTGGGGGGGCTGTAGCCACACAGTGAGTGGTTTCTCCTCAGGGCCTTCTCCAGACGTAGGGCTGTTCTGCTGTGACACATCAGGTTTAGCTTTTCTTGAATTAACTTTATTATTATTTTCTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCACCGTCATGATCTCGGCTCACTGCAACCTGTGTCTCCAGGGTTCAGGCGATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGACTATAGGTGCCGGCCCCCCACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACCCCTGACCTCAGGTGATTTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAATTAACTTTAGTTCATTTTTTAAAACGTTTATTTTGGTAAGTTAACATTTTCCTAGTTCATAATTTCTCCCTCCATCACCATGTCAGCCAAAATCCAAAATCTCTTAGAGATTACTTGGCACAACTTATGCGTTGGAGCTCCTGAGCTTGTCTGGGCTGGTTTTTGGGGAGCCCCAGAGCATAGACTGAGTCTTGCATGTCCCCCTGCAGAGCCTGGGCCTGGTGGACAGGAACAACGAACCGCTTACACACGCCATGTATAACCTGGCCTCTTTGCGTGAGCTGGGTGAGACCCAGCGCCGACCATGCACCATCCAGGTGCCCGAGCCCATCCTCCGCAAGATAGAGACCTTCCTGAACCATGTAAGAGGCCCTGCATCCCTCACCACCCCTGCTCCCTGTAGTCTGCCTCCATCTCTCCAGACTGAAGGCCTCCACCTGCGACAGGCAGTAGTACCTCCCCATTCTCTTCACTGAGTTTGGGGCCTGGGATCCCCCTGGCCTGAACAGCCCAGTCTTGCCCACAAGGATCCCGGGGCAGTCATGGACTAAATTAATCCTCTGCCCAGCGGGTTGGGCCACAACATCTGACCCAGGCGAATCCTGCAGAGTGGCTGGTTGTGTGTGAATGAGGAATTTCTTTTTCATTGTTTTGCTTGCCTCCCTGCCCTCCAGTACCCTGTGGAGAGTTCATGGATCGCCCCAGAACTCCGGCTGCAGAGTGATGACATCTTGCCCTTGGGCAAGGACTCAGGGCCTCTGAGTGACCCTATCACAGGCAAGCCCTATGTGCCCCTGTTGGAAGCAGAGGAGGTACGTCTCAGCCAGAGTCTGCTAGAACTGTGGCGGCGGCGAGGGCCGGTCTGGCAGGAGGCCCCCCAGCTACCTGTGGACCCACATCGGGACACCATCCTCAACGCCATTGAGCAGCACCCGGTGGTGGTCATCTCTGGGGACACGGGCTGTGGGAAGACCACGCGCATCCCCCAGCTGTTGCTGGAGCGCTATGTGACCGAGGGCCGAGGTGCCCGCTGCAATGTTATCATCACCCAACCTCGCCACATCTCTGCTGTGTCTGTGGCACAGCGGGTCAGCCACGAACTGGGCCCCTCCCTGCGCCGGAATGTGGGCTTCCAGGTGCGGTTGGAAAGTAAGCCCCCATCCCGAGGCGGGGCCCTGCTCTTCTGCACTGTGGGTATCCTGCTGCGTAAGCTGCAGAGCAACCCCAGCCTGGAGGGCGTGAGCCACGTCATCGTGGATGAGGTGCATGAGCGGGACGTGAACACAGACTTTCTGCTGATCCTGCTCAAGGGCCTGCAGCGGCTCAACCCGGCCCTGCGGCTGGTGCTCATGAGTGCCACAGGGGACAATGAGCGCTTCTCCCGATACTTTGGTGGCTGCCCCGTCATCAAGGTGCCTGGCTTCATGTACCCAGTCAAGGAGCACTACCTAGAGGACATCCTGGCCAAGTTGGGCAAGCACCAGTACCTGCACCGGCACCGGCACCATGAGGTGAGGGACACCCCCATCCCACCCAAGGCTCCTGGCCTTTCCTCCGTGGATGCCCCTCCTCCCTGGCCCTGGGGCTTGGTGCCTGGGGCAAGTTACCCTCCCCAGTCCTCGGTTTCCTTGATAGAAACTGGGGACTAACCCTGCCTGCGTGGCACACGTGAGGATTGGAGTTGATGTCAAGCGGCTCCGTCTCACTGAGTCAGGTGGCTGTGTCCTTGGCATGACCCCTTACCCCGGGGCTGTGACTGTGGCCTCTCTTCCCCCACCCCAGTCTGAGGATGAATGCGCACTCGATTTGGACCTTGTGACTGATCTGGTTCTGCACATCGATGCTCGCGGGGAACCAGGTGGGTGCCTCCCCATCTGTCCCATGCTAGCCCTGGCCACGTTTGCAGCAACAGCTGGCTCATGCCCCAGGGCTCCTTTACAGGTGGGATCCTGTGCTTCCTGCCTGGGTGGCAGGAGATCAAAGGAGTGCAGCAGCGCCTCCAGGAGGCCCTGGGCATGCACGAGAGCAAGTACCTCATCCTGCCAGGTGAGAGCCCCGGCGGAGGGACCAGGGACCTTTGGAAACCAGCCTGACCTCTGTCCTAGGGACTGACCCAACTGGGACTCCAGGGGCCCCGGTTTCTGACCAAGCTGTGGCACTTTTCACTGGGCATAGTGTTTATCTGCGCCTGTTTCATCAAAATGGGGTCAAAATCCTTGCCCTGCCCACATTCCAGGGGGGAATTCTGGTGGAAGCAGTGCCCATAACTGGTGTGTGTCTTGCCCACCAGTGCACTCCAACATCCCCATGATGGATCAGAAGGCCATATTCCAGCAGCCTCCAGTTGGGGTGCGCAAGATTGTCTTGGCCACCAACATTGCTGAGACTTCCATCACAATCAATGACATCGTGCATGTGGTGGACAGTGGGCTGCACAAGGAAGAACGCTATGACCTGAAGACCAAGGTGGCACCTACCTCCTGGGCCCGGCCAACCACTGGGGGAGGGACTCCGTTTTGAGGTGGTCCCCAGCCCAGATCTACCTTAGACCTGCTTTGTGTGTCTTCAGAAGGCCGCGCTTGTGGGGTCTCAGTGTTCCTGATGTAGGGGGCTGGTGAGGGTTACTCAGGGAGTGGGGAAGCACTGAGGAAGTGGCATTTGTGTGCTGCTTACTTGCCACCTCCTCCAGGTGTCCTGCCTGGAGACAGTGTGGGTATCAAGAGCCAATGTGATCCAGCGCCGGGGCCGGGCGGGCCGCTGCCAGTCCGGCTTTGCCTACCACTTGTTCCCTCGAAGCCGGCTGGAGAAAATGGTCCCTTTCCAAGTGCCAGAGATCCTGCGCACACCTCTTGAGAACCTGGTGCTGCAAGCGAAAATCCACATGCCTGAGAAGACGGTGCGGCGGGGCGGGGCAGGGGCTGGCCTGGGGACCAGGCAGGTGGGAGGCAGGCTCATGGCGGGCTCTGGCTCTGTCATAGGCGGTGGAGTTCCTGTCCAAGGCTGTGGACAGTCCAAACATCAAGGCAGTGGACGAGGCTGTGATCTTGCTCCAGGAGATCGGTATGTAGGGGCTGGGCTGGGCTGGGCTGGGGAGTGGCTCTCGAGGG
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Task1_train_6732
|
An alteration has been detected in DHX30 (DExH-box helicase 30) on Chromosome 3. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Oculomotor apraxia
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GGCAGAAGCCTGTTCCTGCAGCAAGGAGCTTGTGTTGGCACCTCCTGTGGTATGAGGACCAGATTCCTGTCCTTTAGGTCCTTATAGCTGATGGTGCCAGCACGCCCAGAGGCAGGGGGTTGGCCCCTGTTGGGGGAAGACTTCTTTAAGGAGGGAGTGTTTGATCTGGGCTCCGAAGGGTGAGCAGAGTCCAGCCATTAGAGGTGACAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCCAGTGGCTTGTTTGATCAAGTTGCATTATAATCGACATTTACAGGAAATTCCACGTGCATCTGTATATGATGGGGTCACAGATGGGTCGGGTGCCATGTAGGGATTGGGAGGCGGGATGGAAGGATTAGGGGAGGAAGGCTTTGATGAGGCAGCAAAGGAAGAGGGAGTCTGTGGGGTGCGTTCTAGCATCGAGGGCCTGGCCTGGCTGGTCTGAGGGTACATGTTGGGAATTCACAGAGGTGACAGTGGCCTATTGTGGTGTTGGGGGGGCTGTAGCCACACAGTGAGTGGTTTCTCCTCAGGGCCTTCTCCAGACGTAGGGCTGTTCTGCTGTGACACATCAGGTTTAGCTTTTCTTGAATTAACTTTATTATTATTTTCTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCACCGTCATGATCTCGGCTCACTGCAACCTGTGTCTCCAGGGTTCAGGCGATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGACTATAGGTGCCGGCCCCCCACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACCCCTGACCTCAGGTGATTTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAATTAACTTTAGTTCATTTTTTAAAACGTTTATTTTGGTAAGTTAACATTTTCCTAGTTCATAATTTCTCCCTCCATCACCATGTCAGCCAAAATCCAAAATCTCTTAGAGATTACTTGGCACAACTTATGCGTTGGAGCTCCTGAGCTTGTCTGGGCTGGTTTTTGGGGAGCCCCAGAGCATAGACTGAGTCTTGCATGTCCCCCTGCAGAGCCTGGGCCTGGTGGACAGGAACAACGAACCGCTTACACACGCCATGTATAACCTGGCCTCTTTGCGTGAGCTGGGTGAGACCCAGCGCCGACCATGCACCATCCAGGTGCCCGAGCCCATCCTCCGCAAGATAGAGACCTTCCTGAACCATGTAAGAGGCCCTGCATCCCTCACCACCCCTGCTCCCTGTAGTCTGCCTCCATCTCTCCAGACTGAAGGCCTCCACCTGCGACAGGCAGTAGTACCTCCCCATTCTCTTCACTGAGTTTGGGGCCTGGGATCCCCCTGGCCTGAACAGCCCAGTCTTGCCCACAAGGATCCCGGGGCAGTCATGGACTAAATTAATCCTCTGCCCAGCGGGTTGGGCCACAACATCTGACCCAGGCGAATCCTGCAGAGTGGCTGGTTGTGTGTGAATGAGGAATTTCTTTTTCATTGTTTTGCTTGCCTCCCTGCCCTCCAGTACCCTGTGGAGAGTTCATGGATCGCCCCAGAACTCCGGCTGCAGAGTGATGACATCTTGCCCTTGGGCAAGGACTCAGGGCCTCTGAGTGACCCTATCACAGGCAAGCCCTATGTGCCCCTGTTGGAAGCAGAGGAGGTACGTCTCAGCCAGAGTCTGCTAGAACTGTGGCGGCGGCGAGGGCCGGTCTGGCAGGAGGCCCCCCAGCTACCTGTGGACCCACATCGGGACACCATCCTCAACGCCATTGAGCAGCACCCGGTGGTGGTCATCTCTGGGGACACGGGCTGTGGGAAGACCACGCGCATCCCCCAGCTGTTGCTGGAGCGCTATGTGACCGAGGGCCGAGGTGCCCGCTGCAATGTTATCATCACCCAACCTCGCCGCATCTCTGCTGTGTCTGTGGCACAGCGGGTCAGCCACGAACTGGGCCCCTCCCTGCGCCGGAATGTGGGCTTCCAGGTGCGGTTGGAAAGTAAGCCCCCATCCCGAGGCGGGGCCCTGCTCTTCTGCACTGTGGGTATCCTGCTGCGTAAGCTGCAGAGCAACCCCAGCCTGGAGGGCGTGAGCCACGTCATCGTGGATGAGGTGCATGAGCGGGACGTGAACACAGACTTTCTGCTGATCCTGCTCAAGGGCCTGCAGCGGCTCAACCCGGCCCTGCGGCTGGTGCTCATGAGTGCCACAGGGGACAATGAGCGCTTCTCCCGATACTTTGGTGGCTGCCCCGTCATCAAGGTGCCTGGCTTCATGTACCCAGTCAAGGAGCACTACCTAGAGGACATCCTGGCCAAGTTGGGCAAGCACCAGTACCTGCACCGGCACCGGCACCATGAGGTGAGGGACACCCCCATCCCACCCAAGGCTCCTGGCCTTTCCTCCGTGGATGCCCCTCCTCCCTGGCCCTGGGGCTTGGTGCCTGGGGCAAGTTACCCTCCCCAGTCCTCGGTTTCCTTGATAGAAACTGGGGACTAACCCTGCCTGCGTGGCACACGTGAGGATTGGAGTTGATGTCAAGCGGCTCCGTCTCACTGAGTCAGGTGGCTGTGTCCTTGGCATGACCCCTTACCCCGGGGCTGTGACTGTGGCCTCTCTTCCCCCACCCCAGTCTGAGGATGAATGCGCACTCGATTTGGACCTTGTGACTGATCTGGTTCTGCACATCGATGCTCGCGGGGAACCAGGTGGGTGCCTCCCCATCTGTCCCATGCTAGCCCTGGCCACGTTTGCAGCAACAGCTGGCTCATGCCCCAGGGCTCCTTTACAGGTGGGATCCTGTGCTTCCTGCCTGGGTGGCAGGAGATCAAAGGAGTGCAGCAGCGCCTCCAGGAGGCCCTGGGCATGCACGAGAGCAAGTACCTCATCCTGCCAGGTGAGAGCCCCGGCGGAGGGACCAGGGACCTTTGGAAACCAGCCTGACCTCTGTCCTAGGGACTGACCCAACTGGGACTCCAGGGGCCCCGGTTTCTGACCAAGCTGTGGCACTTTTCACTGGGCATAGTGTTTATCTGCGCCTGTTTCATCAAAATGGGGTCAAAATCCTTGCCCTGCCCACATTCCAGGGGGGAATTCTGGTGGAAGCAGTGCCCATAACTGGTGTGTGTCTTGCCCACCAGTGCACTCCAACATCCCCATGATGGATCAGAAGGCCATATTCCAGCAGCCTCCAGTTGGGGTGCGCAAGATTGTCTTGGCCACCAACATTGCTGAGACTTCCATCACAATCAATGACATCGTGCATGTGGTGGACAGTGGGCTGCACAAGGAAGAACGCTATGACCTGAAGACCAAGGTGGCACCTACCTCCTGGGCCCGGCCAACCACTGGGGGAGGGACTCCGTTTTGAGGTGGTCCCCAGCCCAGATCTACCTTAGACCTGCTTTGTGTGTCTTCAGAAGGCCGCGCTTGTGGGGTCTCAGTGTTCCTGATGTAGGGGGCTGGTGAGGGTTACTCAGGGAGTGGGGAAGCACTGAGGAAGTGGCATTTGTGTGCTGCTTACTTGCCACCTCCTCCAGGTGTCCTGCCTGGAGACAGTGTGGGTATCAAGAGCCAATGTGATCCAGCGCCGGGGCCGGGCGGGCCGCTGCCAGTCCGGCTTTGCCTACCACTTGTTCCCTCGAAGCCGGCTGGAGAAAATGGTCCCTTTCCAAGTGCCAGAGATCCTGCGCACACCTCTTGAGAACCTGGTGCTGCAAGCGAAAATCCACATGCCTGAGAAGACGGTGCGGCGGGGCGGGGCAGGGGCTGGCCTGGGGACCAGGCAGGTGGGAGGCAGGCTCATGGCGGGCTCTGGCTCTGTCATAGGCGGTGGAGTTCCTGTCCAAGGCTGTGGACAGTCCAAACATCAAGGCAGTGGACGAGGCTGTGATCTTGCTCCAGGAGATCGGTATGTAGGGGCTGGGCTGGGCTGGGCTGGGGAGTGGCTCTCGAGGG
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GGCAGAAGCCTGTTCCTGCAGCAAGGAGCTTGTGTTGGCACCTCCTGTGGTATGAGGACCAGATTCCTGTCCTTTAGGTCCTTATAGCTGATGGTGCCAGCACGCCCAGAGGCAGGGGGTTGGCCCCTGTTGGGGGAAGACTTCTTTAAGGAGGGAGTGTTTGATCTGGGCTCCGAAGGGTGAGCAGAGTCCAGCCATTAGAGGTGACAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCCAGTGGCTTGTTTGATCAAGTTGCATTATAATCGACATTTACAGGAAATTCCACGTGCATCTGTATATGATGGGGTCACAGATGGGTCGGGTGCCATGTAGGGATTGGGAGGCGGGATGGAAGGATTAGGGGAGGAAGGCTTTGATGAGGCAGCAAAGGAAGAGGGAGTCTGTGGGGTGCGTTCTAGCATCGAGGGCCTGGCCTGGCTGGTCTGAGGGTACATGTTGGGAATTCACAGAGGTGACAGTGGCCTATTGTGGTGTTGGGGGGGCTGTAGCCACACAGTGAGTGGTTTCTCCTCAGGGCCTTCTCCAGACGTAGGGCTGTTCTGCTGTGACACATCAGGTTTAGCTTTTCTTGAATTAACTTTATTATTATTTTCTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCACCGTCATGATCTCGGCTCACTGCAACCTGTGTCTCCAGGGTTCAGGCGATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGACTATAGGTGCCGGCCCCCCACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACCCCTGACCTCAGGTGATTTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAATTAACTTTAGTTCATTTTTTAAAACGTTTATTTTGGTAAGTTAACATTTTCCTAGTTCATAATTTCTCCCTCCATCACCATGTCAGCCAAAATCCAAAATCTCTTAGAGATTACTTGGCACAACTTATGCGTTGGAGCTCCTGAGCTTGTCTGGGCTGGTTTTTGGGGAGCCCCAGAGCATAGACTGAGTCTTGCATGTCCCCCTGCAGAGCCTGGGCCTGGTGGACAGGAACAACGAACCGCTTACACACGCCATGTATAACCTGGCCTCTTTGCGTGAGCTGGGTGAGACCCAGCGCCGACCATGCACCATCCAGGTGCCCGAGCCCATCCTCCGCAAGATAGAGACCTTCCTGAACCATGTAAGAGGCCCTGCATCCCTCACCACCCCTGCTCCCTGTAGTCTGCCTCCATCTCTCCAGACTGAAGGCCTCCACCTGCGACAGGCAGTAGTACCTCCCCATTCTCTTCACTGAGTTTGGGGCCTGGGATCCCCCTGGCCTGAACAGCCCAGTCTTGCCCACAAGGATCCCGGGGCAGTCATGGACTAAATTAATCCTCTGCCCAGCGGGTTGGGCCACAACATCTGACCCAGGCGAATCCTGCAGAGTGGCTGGTTGTGTGTGAATGAGGAATTTCTTTTTCATTGTTTTGCTTGCCTCCCTGCCCTCCAGTACCCTGTGGAGAGTTCATGGATCGCCCCAGAACTCCGGCTGCAGAGTGATGACATCTTGCCCTTGGGCAAGGACTCAGGGCCTCTGAGTGACCCTATCACAGGCAAGCCCTATGTGCCCCTGTTGGAAGCAGAGGAGGTACGTCTCAGCCAGAGTCTGCTAGAACTGTGGCGGCGGCGAGGGCCGGTCTGGCAGGAGGCCCCCCAGCTACCTGTGGACCCACATCGGGACACCATCCTCAACGCCATTGAGCAGCACCCGGTGGTGGTCATCTCTGGGGACACGGGCTGTGGGAAGACCACGCGCATCCCCCAGCTGTTGCTGGAGCGCTATGTGACCGAGGGCCGAGGTGCCCGCTGCAATGTTATCATCACCCAACCTCGCCACATCTCTGCTGTGTCTGTGGCACAGCGGGTCAGCCACGAACTGGGCCCCTCCCTGCGCCGGAATGTGGGCTTCCAGGTGCGGTTGGAAAGTAAGCCCCCATCCCGAGGCGGGGCCCTGCTCTTCTGCACTGTGGGTATCCTGCTGCGTAAGCTGCAGAGCAACCCCAGCCTGGAGGGCGTGAGCCACGTCATCGTGGATGAGGTGCATGAGCGGGACGTGAACACAGACTTTCTGCTGATCCTGCTCAAGGGCCTGCAGCGGCTCAACCCGGCCCTGCGGCTGGTGCTCATGAGTGCCACAGGGGACAATGAGCGCTTCTCCCGATACTTTGGTGGCTGCCCCGTCATCAAGGTGCCTGGCTTCATGTACCCAGTCAAGGAGCACTACCTAGAGGACATCCTGGCCAAGTTGGGCAAGCACCAGTACCTGCACCGGCACCGGCACCATGAGGTGAGGGACACCCCCATCCCACCCAAGGCTCCTGGCCTTTCCTCCGTGGATGCCCCTCCTCCCTGGCCCTGGGGCTTGGTGCCTGGGGCAAGTTACCCTCCCCAGTCCTCGGTTTCCTTGATAGAAACTGGGGACTAACCCTGCCTGCGTGGCACACGTGAGGATTGGAGTTGATGTCAAGCGGCTCCGTCTCACTGAGTCAGGTGGCTGTGTCCTTGGCATGACCCCTTACCCCGGGGCTGTGACTGTGGCCTCTCTTCCCCCACCCCAGTCTGAGGATGAATGCGCACTCGATTTGGACCTTGTGACTGATCTGGTTCTGCACATCGATGCTCGCGGGGAACCAGGTGGGTGCCTCCCCATCTGTCCCATGCTAGCCCTGGCCACGTTTGCAGCAACAGCTGGCTCATGCCCCAGGGCTCCTTTACAGGTGGGATCCTGTGCTTCCTGCCTGGGTGGCAGGAGATCAAAGGAGTGCAGCAGCGCCTCCAGGAGGCCCTGGGCATGCACGAGAGCAAGTACCTCATCCTGCCAGGTGAGAGCCCCGGCGGAGGGACCAGGGACCTTTGGAAACCAGCCTGACCTCTGTCCTAGGGACTGACCCAACTGGGACTCCAGGGGCCCCGGTTTCTGACCAAGCTGTGGCACTTTTCACTGGGCATAGTGTTTATCTGCGCCTGTTTCATCAAAATGGGGTCAAAATCCTTGCCCTGCCCACATTCCAGGGGGGAATTCTGGTGGAAGCAGTGCCCATAACTGGTGTGTGTCTTGCCCACCAGTGCACTCCAACATCCCCATGATGGATCAGAAGGCCATATTCCAGCAGCCTCCAGTTGGGGTGCGCAAGATTGTCTTGGCCACCAACATTGCTGAGACTTCCATCACAATCAATGACATCGTGCATGTGGTGGACAGTGGGCTGCACAAGGAAGAACGCTATGACCTGAAGACCAAGGTGGCACCTACCTCCTGGGCCCGGCCAACCACTGGGGGAGGGACTCCGTTTTGAGGTGGTCCCCAGCCCAGATCTACCTTAGACCTGCTTTGTGTGTCTTCAGAAGGCCGCGCTTGTGGGGTCTCAGTGTTCCTGATGTAGGGGGCTGGTGAGGGTTACTCAGGGAGTGGGGAAGCACTGAGGAAGTGGCATTTGTGTGCTGCTTACTTGCCACCTCCTCCAGGTGTCCTGCCTGGAGACAGTGTGGGTATCAAGAGCCAATGTGATCCAGCGCCGGGGCCGGGCGGGCCGCTGCCAGTCCGGCTTTGCCTACCACTTGTTCCCTCGAAGCCGGCTGGAGAAAATGGTCCCTTTCCAAGTGCCAGAGATCCTGCGCACACCTCTTGAGAACCTGGTGCTGCAAGCGAAAATCCACATGCCTGAGAAGACGGTGCGGCGGGGCGGGGCAGGGGCTGGCCTGGGGACCAGGCAGGTGGGAGGCAGGCTCATGGCGGGCTCTGGCTCTGTCATAGGCGGTGGAGTTCCTGTCCAAGGCTGTGGACAGTCCAAACATCAAGGCAGTGGACGAGGCTGTGATCTTGCTCCAGGAGATCGGTATGTAGGGGCTGGGCTGGGCTGGGCTGGGGAGTGGCTCTCGAGGG
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Task1_train_6733
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This alteration occurs within gene DHX30 (DExH-box helicase 30) located on Chromosome 3. Is it associated with a disease or is it a benign variant?
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Pathogenic; Unsteady gait
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GGCAGAAGCCTGTTCCTGCAGCAAGGAGCTTGTGTTGGCACCTCCTGTGGTATGAGGACCAGATTCCTGTCCTTTAGGTCCTTATAGCTGATGGTGCCAGCACGCCCAGAGGCAGGGGGTTGGCCCCTGTTGGGGGAAGACTTCTTTAAGGAGGGAGTGTTTGATCTGGGCTCCGAAGGGTGAGCAGAGTCCAGCCATTAGAGGTGACAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCCAGTGGCTTGTTTGATCAAGTTGCATTATAATCGACATTTACAGGAAATTCCACGTGCATCTGTATATGATGGGGTCACAGATGGGTCGGGTGCCATGTAGGGATTGGGAGGCGGGATGGAAGGATTAGGGGAGGAAGGCTTTGATGAGGCAGCAAAGGAAGAGGGAGTCTGTGGGGTGCGTTCTAGCATCGAGGGCCTGGCCTGGCTGGTCTGAGGGTACATGTTGGGAATTCACAGAGGTGACAGTGGCCTATTGTGGTGTTGGGGGGGCTGTAGCCACACAGTGAGTGGTTTCTCCTCAGGGCCTTCTCCAGACGTAGGGCTGTTCTGCTGTGACACATCAGGTTTAGCTTTTCTTGAATTAACTTTATTATTATTTTCTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCACCGTCATGATCTCGGCTCACTGCAACCTGTGTCTCCAGGGTTCAGGCGATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGACTATAGGTGCCGGCCCCCCACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACCCCTGACCTCAGGTGATTTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAATTAACTTTAGTTCATTTTTTAAAACGTTTATTTTGGTAAGTTAACATTTTCCTAGTTCATAATTTCTCCCTCCATCACCATGTCAGCCAAAATCCAAAATCTCTTAGAGATTACTTGGCACAACTTATGCGTTGGAGCTCCTGAGCTTGTCTGGGCTGGTTTTTGGGGAGCCCCAGAGCATAGACTGAGTCTTGCATGTCCCCCTGCAGAGCCTGGGCCTGGTGGACAGGAACAACGAACCGCTTACACACGCCATGTATAACCTGGCCTCTTTGCGTGAGCTGGGTGAGACCCAGCGCCGACCATGCACCATCCAGGTGCCCGAGCCCATCCTCCGCAAGATAGAGACCTTCCTGAACCATGTAAGAGGCCCTGCATCCCTCACCACCCCTGCTCCCTGTAGTCTGCCTCCATCTCTCCAGACTGAAGGCCTCCACCTGCGACAGGCAGTAGTACCTCCCCATTCTCTTCACTGAGTTTGGGGCCTGGGATCCCCCTGGCCTGAACAGCCCAGTCTTGCCCACAAGGATCCCGGGGCAGTCATGGACTAAATTAATCCTCTGCCCAGCGGGTTGGGCCACAACATCTGACCCAGGCGAATCCTGCAGAGTGGCTGGTTGTGTGTGAATGAGGAATTTCTTTTTCATTGTTTTGCTTGCCTCCCTGCCCTCCAGTACCCTGTGGAGAGTTCATGGATCGCCCCAGAACTCCGGCTGCAGAGTGATGACATCTTGCCCTTGGGCAAGGACTCAGGGCCTCTGAGTGACCCTATCACAGGCAAGCCCTATGTGCCCCTGTTGGAAGCAGAGGAGGTACGTCTCAGCCAGAGTCTGCTAGAACTGTGGCGGCGGCGAGGGCCGGTCTGGCAGGAGGCCCCCCAGCTACCTGTGGACCCACATCGGGACACCATCCTCAACGCCATTGAGCAGCACCCGGTGGTGGTCATCTCTGGGGACACGGGCTGTGGGAAGACCACGCGCATCCCCCAGCTGTTGCTGGAGCGCTATGTGACCGAGGGCCGAGGTGCCCGCTGCAATGTTATCATCACCCAACCTCGCCGCATCTCTGCTGTGTCTGTGGCACAGCGGGTCAGCCACGAACTGGGCCCCTCCCTGCGCCGGAATGTGGGCTTCCAGGTGCGGTTGGAAAGTAAGCCCCCATCCCGAGGCGGGGCCCTGCTCTTCTGCACTGTGGGTATCCTGCTGCGTAAGCTGCAGAGCAACCCCAGCCTGGAGGGCGTGAGCCACGTCATCGTGGATGAGGTGCATGAGCGGGACGTGAACACAGACTTTCTGCTGATCCTGCTCAAGGGCCTGCAGCGGCTCAACCCGGCCCTGCGGCTGGTGCTCATGAGTGCCACAGGGGACAATGAGCGCTTCTCCCGATACTTTGGTGGCTGCCCCGTCATCAAGGTGCCTGGCTTCATGTACCCAGTCAAGGAGCACTACCTAGAGGACATCCTGGCCAAGTTGGGCAAGCACCAGTACCTGCACCGGCACCGGCACCATGAGGTGAGGGACACCCCCATCCCACCCAAGGCTCCTGGCCTTTCCTCCGTGGATGCCCCTCCTCCCTGGCCCTGGGGCTTGGTGCCTGGGGCAAGTTACCCTCCCCAGTCCTCGGTTTCCTTGATAGAAACTGGGGACTAACCCTGCCTGCGTGGCACACGTGAGGATTGGAGTTGATGTCAAGCGGCTCCGTCTCACTGAGTCAGGTGGCTGTGTCCTTGGCATGACCCCTTACCCCGGGGCTGTGACTGTGGCCTCTCTTCCCCCACCCCAGTCTGAGGATGAATGCGCACTCGATTTGGACCTTGTGACTGATCTGGTTCTGCACATCGATGCTCGCGGGGAACCAGGTGGGTGCCTCCCCATCTGTCCCATGCTAGCCCTGGCCACGTTTGCAGCAACAGCTGGCTCATGCCCCAGGGCTCCTTTACAGGTGGGATCCTGTGCTTCCTGCCTGGGTGGCAGGAGATCAAAGGAGTGCAGCAGCGCCTCCAGGAGGCCCTGGGCATGCACGAGAGCAAGTACCTCATCCTGCCAGGTGAGAGCCCCGGCGGAGGGACCAGGGACCTTTGGAAACCAGCCTGACCTCTGTCCTAGGGACTGACCCAACTGGGACTCCAGGGGCCCCGGTTTCTGACCAAGCTGTGGCACTTTTCACTGGGCATAGTGTTTATCTGCGCCTGTTTCATCAAAATGGGGTCAAAATCCTTGCCCTGCCCACATTCCAGGGGGGAATTCTGGTGGAAGCAGTGCCCATAACTGGTGTGTGTCTTGCCCACCAGTGCACTCCAACATCCCCATGATGGATCAGAAGGCCATATTCCAGCAGCCTCCAGTTGGGGTGCGCAAGATTGTCTTGGCCACCAACATTGCTGAGACTTCCATCACAATCAATGACATCGTGCATGTGGTGGACAGTGGGCTGCACAAGGAAGAACGCTATGACCTGAAGACCAAGGTGGCACCTACCTCCTGGGCCCGGCCAACCACTGGGGGAGGGACTCCGTTTTGAGGTGGTCCCCAGCCCAGATCTACCTTAGACCTGCTTTGTGTGTCTTCAGAAGGCCGCGCTTGTGGGGTCTCAGTGTTCCTGATGTAGGGGGCTGGTGAGGGTTACTCAGGGAGTGGGGAAGCACTGAGGAAGTGGCATTTGTGTGCTGCTTACTTGCCACCTCCTCCAGGTGTCCTGCCTGGAGACAGTGTGGGTATCAAGAGCCAATGTGATCCAGCGCCGGGGCCGGGCGGGCCGCTGCCAGTCCGGCTTTGCCTACCACTTGTTCCCTCGAAGCCGGCTGGAGAAAATGGTCCCTTTCCAAGTGCCAGAGATCCTGCGCACACCTCTTGAGAACCTGGTGCTGCAAGCGAAAATCCACATGCCTGAGAAGACGGTGCGGCGGGGCGGGGCAGGGGCTGGCCTGGGGACCAGGCAGGTGGGAGGCAGGCTCATGGCGGGCTCTGGCTCTGTCATAGGCGGTGGAGTTCCTGTCCAAGGCTGTGGACAGTCCAAACATCAAGGCAGTGGACGAGGCTGTGATCTTGCTCCAGGAGATCGGTATGTAGGGGCTGGGCTGGGCTGGGCTGGGGAGTGGCTCTCGAGGG
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GGCAGAAGCCTGTTCCTGCAGCAAGGAGCTTGTGTTGGCACCTCCTGTGGTATGAGGACCAGATTCCTGTCCTTTAGGTCCTTATAGCTGATGGTGCCAGCACGCCCAGAGGCAGGGGGTTGGCCCCTGTTGGGGGAAGACTTCTTTAAGGAGGGAGTGTTTGATCTGGGCTCCGAAGGGTGAGCAGAGTCCAGCCATTAGAGGTGACAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCCAGTGGCTTGTTTGATCAAGTTGCATTATAATCGACATTTACAGGAAATTCCACGTGCATCTGTATATGATGGGGTCACAGATGGGTCGGGTGCCATGTAGGGATTGGGAGGCGGGATGGAAGGATTAGGGGAGGAAGGCTTTGATGAGGCAGCAAAGGAAGAGGGAGTCTGTGGGGTGCGTTCTAGCATCGAGGGCCTGGCCTGGCTGGTCTGAGGGTACATGTTGGGAATTCACAGAGGTGACAGTGGCCTATTGTGGTGTTGGGGGGGCTGTAGCCACACAGTGAGTGGTTTCTCCTCAGGGCCTTCTCCAGACGTAGGGCTGTTCTGCTGTGACACATCAGGTTTAGCTTTTCTTGAATTAACTTTATTATTATTTTCTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCACCGTCATGATCTCGGCTCACTGCAACCTGTGTCTCCAGGGTTCAGGCGATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGACTATAGGTGCCGGCCCCCCACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACCCCTGACCTCAGGTGATTTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAATTAACTTTAGTTCATTTTTTAAAACGTTTATTTTGGTAAGTTAACATTTTCCTAGTTCATAATTTCTCCCTCCATCACCATGTCAGCCAAAATCCAAAATCTCTTAGAGATTACTTGGCACAACTTATGCGTTGGAGCTCCTGAGCTTGTCTGGGCTGGTTTTTGGGGAGCCCCAGAGCATAGACTGAGTCTTGCATGTCCCCCTGCAGAGCCTGGGCCTGGTGGACAGGAACAACGAACCGCTTACACACGCCATGTATAACCTGGCCTCTTTGCGTGAGCTGGGTGAGACCCAGCGCCGACCATGCACCATCCAGGTGCCCGAGCCCATCCTCCGCAAGATAGAGACCTTCCTGAACCATGTAAGAGGCCCTGCATCCCTCACCACCCCTGCTCCCTGTAGTCTGCCTCCATCTCTCCAGACTGAAGGCCTCCACCTGCGACAGGCAGTAGTACCTCCCCATTCTCTTCACTGAGTTTGGGGCCTGGGATCCCCCTGGCCTGAACAGCCCAGTCTTGCCCACAAGGATCCCGGGGCAGTCATGGACTAAATTAATCCTCTGCCCAGCGGGTTGGGCCACAACATCTGACCCAGGCGAATCCTGCAGAGTGGCTGGTTGTGTGTGAATGAGGAATTTCTTTTTCATTGTTTTGCTTGCCTCCCTGCCCTCCAGTACCCTGTGGAGAGTTCATGGATCGCCCCAGAACTCCGGCTGCAGAGTGATGACATCTTGCCCTTGGGCAAGGACTCAGGGCCTCTGAGTGACCCTATCACAGGCAAGCCCTATGTGCCCCTGTTGGAAGCAGAGGAGGTACGTCTCAGCCAGAGTCTGCTAGAACTGTGGCGGCGGCGAGGGCCGGTCTGGCAGGAGGCCCCCCAGCTACCTGTGGACCCACATCGGGACACCATCCTCAACGCCATTGAGCAGCACCCGGTGGTGGTCATCTCTGGGGACACGGGCTGTGGGAAGACCACGCGCATCCCCCAGCTGTTGCTGGAGCGCTATGTGACCGAGGGCCGAGGTGCCCGCTGCAATGTTATCATCACCCAACCTCGCCACATCTCTGCTGTGTCTGTGGCACAGCGGGTCAGCCACGAACTGGGCCCCTCCCTGCGCCGGAATGTGGGCTTCCAGGTGCGGTTGGAAAGTAAGCCCCCATCCCGAGGCGGGGCCCTGCTCTTCTGCACTGTGGGTATCCTGCTGCGTAAGCTGCAGAGCAACCCCAGCCTGGAGGGCGTGAGCCACGTCATCGTGGATGAGGTGCATGAGCGGGACGTGAACACAGACTTTCTGCTGATCCTGCTCAAGGGCCTGCAGCGGCTCAACCCGGCCCTGCGGCTGGTGCTCATGAGTGCCACAGGGGACAATGAGCGCTTCTCCCGATACTTTGGTGGCTGCCCCGTCATCAAGGTGCCTGGCTTCATGTACCCAGTCAAGGAGCACTACCTAGAGGACATCCTGGCCAAGTTGGGCAAGCACCAGTACCTGCACCGGCACCGGCACCATGAGGTGAGGGACACCCCCATCCCACCCAAGGCTCCTGGCCTTTCCTCCGTGGATGCCCCTCCTCCCTGGCCCTGGGGCTTGGTGCCTGGGGCAAGTTACCCTCCCCAGTCCTCGGTTTCCTTGATAGAAACTGGGGACTAACCCTGCCTGCGTGGCACACGTGAGGATTGGAGTTGATGTCAAGCGGCTCCGTCTCACTGAGTCAGGTGGCTGTGTCCTTGGCATGACCCCTTACCCCGGGGCTGTGACTGTGGCCTCTCTTCCCCCACCCCAGTCTGAGGATGAATGCGCACTCGATTTGGACCTTGTGACTGATCTGGTTCTGCACATCGATGCTCGCGGGGAACCAGGTGGGTGCCTCCCCATCTGTCCCATGCTAGCCCTGGCCACGTTTGCAGCAACAGCTGGCTCATGCCCCAGGGCTCCTTTACAGGTGGGATCCTGTGCTTCCTGCCTGGGTGGCAGGAGATCAAAGGAGTGCAGCAGCGCCTCCAGGAGGCCCTGGGCATGCACGAGAGCAAGTACCTCATCCTGCCAGGTGAGAGCCCCGGCGGAGGGACCAGGGACCTTTGGAAACCAGCCTGACCTCTGTCCTAGGGACTGACCCAACTGGGACTCCAGGGGCCCCGGTTTCTGACCAAGCTGTGGCACTTTTCACTGGGCATAGTGTTTATCTGCGCCTGTTTCATCAAAATGGGGTCAAAATCCTTGCCCTGCCCACATTCCAGGGGGGAATTCTGGTGGAAGCAGTGCCCATAACTGGTGTGTGTCTTGCCCACCAGTGCACTCCAACATCCCCATGATGGATCAGAAGGCCATATTCCAGCAGCCTCCAGTTGGGGTGCGCAAGATTGTCTTGGCCACCAACATTGCTGAGACTTCCATCACAATCAATGACATCGTGCATGTGGTGGACAGTGGGCTGCACAAGGAAGAACGCTATGACCTGAAGACCAAGGTGGCACCTACCTCCTGGGCCCGGCCAACCACTGGGGGAGGGACTCCGTTTTGAGGTGGTCCCCAGCCCAGATCTACCTTAGACCTGCTTTGTGTGTCTTCAGAAGGCCGCGCTTGTGGGGTCTCAGTGTTCCTGATGTAGGGGGCTGGTGAGGGTTACTCAGGGAGTGGGGAAGCACTGAGGAAGTGGCATTTGTGTGCTGCTTACTTGCCACCTCCTCCAGGTGTCCTGCCTGGAGACAGTGTGGGTATCAAGAGCCAATGTGATCCAGCGCCGGGGCCGGGCGGGCCGCTGCCAGTCCGGCTTTGCCTACCACTTGTTCCCTCGAAGCCGGCTGGAGAAAATGGTCCCTTTCCAAGTGCCAGAGATCCTGCGCACACCTCTTGAGAACCTGGTGCTGCAAGCGAAAATCCACATGCCTGAGAAGACGGTGCGGCGGGGCGGGGCAGGGGCTGGCCTGGGGACCAGGCAGGTGGGAGGCAGGCTCATGGCGGGCTCTGGCTCTGTCATAGGCGGTGGAGTTCCTGTCCAAGGCTGTGGACAGTCCAAACATCAAGGCAGTGGACGAGGCTGTGATCTTGCTCCAGGAGATCGGTATGTAGGGGCTGGGCTGGGCTGGGCTGGGGAGTGGCTCTCGAGGG
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Task1_train_6734
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This gene mutation involves DHX30 (DExH-box helicase 30) on Chromosome 3. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Global developmental delay
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CAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCCAGTGGCTTGTTTGATCAAGTTGCATTATAATCGACATTTACAGGAAATTCCACGTGCATCTGTATATGATGGGGTCACAGATGGGTCGGGTGCCATGTAGGGATTGGGAGGCGGGATGGAAGGATTAGGGGAGGAAGGCTTTGATGAGGCAGCAAAGGAAGAGGGAGTCTGTGGGGTGCGTTCTAGCATCGAGGGCCTGGCCTGGCTGGTCTGAGGGTACATGTTGGGAATTCACAGAGGTGACAGTGGCCTATTGTGGTGTTGGGGGGGCTGTAGCCACACAGTGAGTGGTTTCTCCTCAGGGCCTTCTCCAGACGTAGGGCTGTTCTGCTGTGACACATCAGGTTTAGCTTTTCTTGAATTAACTTTATTATTATTTTCTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCACCGTCATGATCTCGGCTCACTGCAACCTGTGTCTCCAGGGTTCAGGCGATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGACTATAGGTGCCGGCCCCCCACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACCCCTGACCTCAGGTGATTTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAATTAACTTTAGTTCATTTTTTAAAACGTTTATTTTGGTAAGTTAACATTTTCCTAGTTCATAATTTCTCCCTCCATCACCATGTCAGCCAAAATCCAAAATCTCTTAGAGATTACTTGGCACAACTTATGCGTTGGAGCTCCTGAGCTTGTCTGGGCTGGTTTTTGGGGAGCCCCAGAGCATAGACTGAGTCTTGCATGTCCCCCTGCAGAGCCTGGGCCTGGTGGACAGGAACAACGAACCGCTTACACACGCCATGTATAACCTGGCCTCTTTGCGTGAGCTGGGTGAGACCCAGCGCCGACCATGCACCATCCAGGTGCCCGAGCCCATCCTCCGCAAGATAGAGACCTTCCTGAACCATGTAAGAGGCCCTGCATCCCTCACCACCCCTGCTCCCTGTAGTCTGCCTCCATCTCTCCAGACTGAAGGCCTCCACCTGCGACAGGCAGTAGTACCTCCCCATTCTCTTCACTGAGTTTGGGGCCTGGGATCCCCCTGGCCTGAACAGCCCAGTCTTGCCCACAAGGATCCCGGGGCAGTCATGGACTAAATTAATCCTCTGCCCAGCGGGTTGGGCCACAACATCTGACCCAGGCGAATCCTGCAGAGTGGCTGGTTGTGTGTGAATGAGGAATTTCTTTTTCATTGTTTTGCTTGCCTCCCTGCCCTCCAGTACCCTGTGGAGAGTTCATGGATCGCCCCAGAACTCCGGCTGCAGAGTGATGACATCTTGCCCTTGGGCAAGGACTCAGGGCCTCTGAGTGACCCTATCACAGGCAAGCCCTATGTGCCCCTGTTGGAAGCAGAGGAGGTACGTCTCAGCCAGAGTCTGCTAGAACTGTGGCGGCGGCGAGGGCCGGTCTGGCAGGAGGCCCCCCAGCTACCTGTGGACCCACATCGGGACACCATCCTCAACGCCATTGAGCAGCACCCGGTGGTGGTCATCTCTGGGGACACGGGCTGTGGGAAGACCACGCGCATCCCCCAGCTGTTGCTGGAGCGCTATGTGACCGAGGGCCGAGGTGCCCGCTGCAATGTTATCATCACCCAACCTCGCCGCATCTCTGCTGTGTCTGTGGCACAGCGGGTCAGCCACGAACTGGGCCCCTCCCTGCGCCGGAATGTGGGCTTCCAGGTGCGGTTGGAAAGTAAGCCCCCATCCCGAGGCGGGGCCCTGCTCTTCTGCACTGTGGGTATCCTGCTGCGTAAGCTGCAGAGCAACCCCAGCCTGGAGGGCGTGAGCCACGTCATCGTGGATGAGGTGCATGAGCGGGACGTGAACACAGACTTTCTGCTGATCCTGCTCAAGGGCCTGCAGCGGCTCAACCCGGCCCTGCGGCTGGTGCTCATGAGTGCCACAGGGGACAATGAGCGCTTCTCCCGATACTTTGGTGGCTGCCCCGTCATCAAGGTGCCTGGCTTCATGTACCCAGTCAAGGAGCACTACCTAGAGGACATCCTGGCCAAGTTGGGCAAGCACCAGTACCTGCACCGGCACCGGCACCATGAGGTGAGGGACACCCCCATCCCACCCAAGGCTCCTGGCCTTTCCTCCGTGGATGCCCCTCCTCCCTGGCCCTGGGGCTTGGTGCCTGGGGCAAGTTACCCTCCCCAGTCCTCGGTTTCCTTGATAGAAACTGGGGACTAACCCTGCCTGCGTGGCACACGTGAGGATTGGAGTTGATGTCAAGCGGCTCCGTCTCACTGAGTCAGGTGGCTGTGTCCTTGGCATGACCCCTTACCCCGGGGCTGTGACTGTGGCCTCTCTTCCCCCACCCCAGTCTGAGGATGAATGCGCACTCGATTTGGACCTTGTGACTGATCTGGTTCTGCACATCGATGCTCGCGGGGAACCAGGTGGGTGCCTCCCCATCTGTCCCATGCTAGCCCTGGCCACGTTTGCAGCAACAGCTGGCTCATGCCCCAGGGCTCCTTTACAGGTGGGATCCTGTGCTTCCTGCCTGGGTGGCAGGAGATCAAAGGAGTGCAGCAGCGCCTCCAGGAGGCCCTGGGCATGCACGAGAGCAAGTACCTCATCCTGCCAGGTGAGAGCCCCGGCGGAGGGACCAGGGACCTTTGGAAACCAGCCTGACCTCTGTCCTAGGGACTGACCCAACTGGGACTCCAGGGGCCCCGGTTTCTGACCAAGCTGTGGCACTTTTCACTGGGCATAGTGTTTATCTGCGCCTGTTTCATCAAAATGGGGTCAAAATCCTTGCCCTGCCCACATTCCAGGGGGGAATTCTGGTGGAAGCAGTGCCCATAACTGGTGTGTGTCTTGCCCACCAGTGCACTCCAACATCCCCATGATGGATCAGAAGGCCATATTCCAGCAGCCTCCAGTTGGGGTGCGCAAGATTGTCTTGGCCACCAACATTGCTGAGACTTCCATCACAATCAATGACATCGTGCATGTGGTGGACAGTGGGCTGCACAAGGAAGAACGCTATGACCTGAAGACCAAGGTGGCACCTACCTCCTGGGCCCGGCCAACCACTGGGGGAGGGACTCCGTTTTGAGGTGGTCCCCAGCCCAGATCTACCTTAGACCTGCTTTGTGTGTCTTCAGAAGGCCGCGCTTGTGGGGTCTCAGTGTTCCTGATGTAGGGGGCTGGTGAGGGTTACTCAGGGAGTGGGGAAGCACTGAGGAAGTGGCATTTGTGTGCTGCTTACTTGCCACCTCCTCCAGGTGTCCTGCCTGGAGACAGTGTGGGTATCAAGAGCCAATGTGATCCAGCGCCGGGGCCGGGCGGGCCGCTGCCAGTCCGGCTTTGCCTACCACTTGTTCCCTCGAAGCCGGCTGGAGAAAATGGTCCCTTTCCAAGTGCCAGAGATCCTGCGCACACCTCTTGAGAACCTGGTGCTGCAAGCGAAAATCCACATGCCTGAGAAGACGGTGCGGCGGGGCGGGGCAGGGGCTGGCCTGGGGACCAGGCAGGTGGGAGGCAGGCTCATGGCGGGCTCTGGCTCTGTCATAGGCGGTGGAGTTCCTGTCCAAGGCTGTGGACAGTCCAAACATCAAGGCAGTGGACGAGGCTGTGATCTTGCTCCAGGAGATCGGTATGTAGGGGCTGGGCTGGGCTGGGCTGGGGAGTGGCTCTCGAGGGTGGTACTGACAGCTGAGCCGTTGCAGGGGTGCTGGACCAGCGGGAGTACCTGACTACCCTGGGGCAGCGCCTGGCTCACATCTCCACCGACCCCCGGTTGGCCAAGGCCATTGTGTTGGCTGCCATCTTCCGTTGCCTGCACCCACTACTGGTGGTCGTTTCCTGCCTCACCCGGGACCCCTTCAGCAGCAGCCTACAGAACCGGGC
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CAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCCAGTGGCTTGTTTGATCAAGTTGCATTATAATCGACATTTACAGGAAATTCCACGTGCATCTGTATATGATGGGGTCACAGATGGGTCGGGTGCCATGTAGGGATTGGGAGGCGGGATGGAAGGATTAGGGGAGGAAGGCTTTGATGAGGCAGCAAAGGAAGAGGGAGTCTGTGGGGTGCGTTCTAGCATCGAGGGCCTGGCCTGGCTGGTCTGAGGGTACATGTTGGGAATTCACAGAGGTGACAGTGGCCTATTGTGGTGTTGGGGGGGCTGTAGCCACACAGTGAGTGGTTTCTCCTCAGGGCCTTCTCCAGACGTAGGGCTGTTCTGCTGTGACACATCAGGTTTAGCTTTTCTTGAATTAACTTTATTATTATTTTCTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCACCGTCATGATCTCGGCTCACTGCAACCTGTGTCTCCAGGGTTCAGGCGATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGACTATAGGTGCCGGCCCCCCACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACCCCTGACCTCAGGTGATTTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAATTAACTTTAGTTCATTTTTTAAAACGTTTATTTTGGTAAGTTAACATTTTCCTAGTTCATAATTTCTCCCTCCATCACCATGTCAGCCAAAATCCAAAATCTCTTAGAGATTACTTGGCACAACTTATGCGTTGGAGCTCCTGAGCTTGTCTGGGCTGGTTTTTGGGGAGCCCCAGAGCATAGACTGAGTCTTGCATGTCCCCCTGCAGAGCCTGGGCCTGGTGGACAGGAACAACGAACCGCTTACACACGCCATGTATAACCTGGCCTCTTTGCGTGAGCTGGGTGAGACCCAGCGCCGACCATGCACCATCCAGGTGCCCGAGCCCATCCTCCGCAAGATAGAGACCTTCCTGAACCATGTAAGAGGCCCTGCATCCCTCACCACCCCTGCTCCCTGTAGTCTGCCTCCATCTCTCCAGACTGAAGGCCTCCACCTGCGACAGGCAGTAGTACCTCCCCATTCTCTTCACTGAGTTTGGGGCCTGGGATCCCCCTGGCCTGAACAGCCCAGTCTTGCCCACAAGGATCCCGGGGCAGTCATGGACTAAATTAATCCTCTGCCCAGCGGGTTGGGCCACAACATCTGACCCAGGCGAATCCTGCAGAGTGGCTGGTTGTGTGTGAATGAGGAATTTCTTTTTCATTGTTTTGCTTGCCTCCCTGCCCTCCAGTACCCTGTGGAGAGTTCATGGATCGCCCCAGAACTCCGGCTGCAGAGTGATGACATCTTGCCCTTGGGCAAGGACTCAGGGCCTCTGAGTGACCCTATCACAGGCAAGCCCTATGTGCCCCTGTTGGAAGCAGAGGAGGTACGTCTCAGCCAGAGTCTGCTAGAACTGTGGCGGCGGCGAGGGCCGGTCTGGCAGGAGGCCCCCCAGCTACCTGTGGACCCACATCGGGACACCATCCTCAACGCCATTGAGCAGCACCCGGTGGTGGTCATCTCTGGGGACACGGGCTGTGGGAAGACCACGCGCATCCCCCAGCTGTTGCTGGAGCGCTATGTGACCGAGGGCCGAGGTGCCCGCTGCAATGTTATCATCACCCAACCTCGCCGCATCTCTGCTGTGTCTGTGGCACAGCGGGTCAGCCACGAACTGGGCCCCTCCCTGCGCCGGAATGTGGGCTTCCAGGTGCGGTTGGAAAGTAAGCCCCCATCCCGAGGCGGGGCCCTGCTCTTCTGCACTGTGGGTATCCTGCTGCGTAAGCTGCAGAGCAACCCCAGCCTGGAGGGCGTGAGCCACGTCATCGTGGATGAGGTGCGTGAGCGGGACGTGAACACAGACTTTCTGCTGATCCTGCTCAAGGGCCTGCAGCGGCTCAACCCGGCCCTGCGGCTGGTGCTCATGAGTGCCACAGGGGACAATGAGCGCTTCTCCCGATACTTTGGTGGCTGCCCCGTCATCAAGGTGCCTGGCTTCATGTACCCAGTCAAGGAGCACTACCTAGAGGACATCCTGGCCAAGTTGGGCAAGCACCAGTACCTGCACCGGCACCGGCACCATGAGGTGAGGGACACCCCCATCCCACCCAAGGCTCCTGGCCTTTCCTCCGTGGATGCCCCTCCTCCCTGGCCCTGGGGCTTGGTGCCTGGGGCAAGTTACCCTCCCCAGTCCTCGGTTTCCTTGATAGAAACTGGGGACTAACCCTGCCTGCGTGGCACACGTGAGGATTGGAGTTGATGTCAAGCGGCTCCGTCTCACTGAGTCAGGTGGCTGTGTCCTTGGCATGACCCCTTACCCCGGGGCTGTGACTGTGGCCTCTCTTCCCCCACCCCAGTCTGAGGATGAATGCGCACTCGATTTGGACCTTGTGACTGATCTGGTTCTGCACATCGATGCTCGCGGGGAACCAGGTGGGTGCCTCCCCATCTGTCCCATGCTAGCCCTGGCCACGTTTGCAGCAACAGCTGGCTCATGCCCCAGGGCTCCTTTACAGGTGGGATCCTGTGCTTCCTGCCTGGGTGGCAGGAGATCAAAGGAGTGCAGCAGCGCCTCCAGGAGGCCCTGGGCATGCACGAGAGCAAGTACCTCATCCTGCCAGGTGAGAGCCCCGGCGGAGGGACCAGGGACCTTTGGAAACCAGCCTGACCTCTGTCCTAGGGACTGACCCAACTGGGACTCCAGGGGCCCCGGTTTCTGACCAAGCTGTGGCACTTTTCACTGGGCATAGTGTTTATCTGCGCCTGTTTCATCAAAATGGGGTCAAAATCCTTGCCCTGCCCACATTCCAGGGGGGAATTCTGGTGGAAGCAGTGCCCATAACTGGTGTGTGTCTTGCCCACCAGTGCACTCCAACATCCCCATGATGGATCAGAAGGCCATATTCCAGCAGCCTCCAGTTGGGGTGCGCAAGATTGTCTTGGCCACCAACATTGCTGAGACTTCCATCACAATCAATGACATCGTGCATGTGGTGGACAGTGGGCTGCACAAGGAAGAACGCTATGACCTGAAGACCAAGGTGGCACCTACCTCCTGGGCCCGGCCAACCACTGGGGGAGGGACTCCGTTTTGAGGTGGTCCCCAGCCCAGATCTACCTTAGACCTGCTTTGTGTGTCTTCAGAAGGCCGCGCTTGTGGGGTCTCAGTGTTCCTGATGTAGGGGGCTGGTGAGGGTTACTCAGGGAGTGGGGAAGCACTGAGGAAGTGGCATTTGTGTGCTGCTTACTTGCCACCTCCTCCAGGTGTCCTGCCTGGAGACAGTGTGGGTATCAAGAGCCAATGTGATCCAGCGCCGGGGCCGGGCGGGCCGCTGCCAGTCCGGCTTTGCCTACCACTTGTTCCCTCGAAGCCGGCTGGAGAAAATGGTCCCTTTCCAAGTGCCAGAGATCCTGCGCACACCTCTTGAGAACCTGGTGCTGCAAGCGAAAATCCACATGCCTGAGAAGACGGTGCGGCGGGGCGGGGCAGGGGCTGGCCTGGGGACCAGGCAGGTGGGAGGCAGGCTCATGGCGGGCTCTGGCTCTGTCATAGGCGGTGGAGTTCCTGTCCAAGGCTGTGGACAGTCCAAACATCAAGGCAGTGGACGAGGCTGTGATCTTGCTCCAGGAGATCGGTATGTAGGGGCTGGGCTGGGCTGGGCTGGGGAGTGGCTCTCGAGGGTGGTACTGACAGCTGAGCCGTTGCAGGGGTGCTGGACCAGCGGGAGTACCTGACTACCCTGGGGCAGCGCCTGGCTCACATCTCCACCGACCCCCGGTTGGCCAAGGCCATTGTGTTGGCTGCCATCTTCCGTTGCCTGCACCCACTACTGGTGGTCGTTTCCTGCCTCACCCGGGACCCCTTCAGCAGCAGCCTACAGAACCGGGC
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Task1_train_6735
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The following genetic variant occurs in DHX30 (DExH-box helicase 30) on Chromosome 3. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Strabismus
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CAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCCAGTGGCTTGTTTGATCAAGTTGCATTATAATCGACATTTACAGGAAATTCCACGTGCATCTGTATATGATGGGGTCACAGATGGGTCGGGTGCCATGTAGGGATTGGGAGGCGGGATGGAAGGATTAGGGGAGGAAGGCTTTGATGAGGCAGCAAAGGAAGAGGGAGTCTGTGGGGTGCGTTCTAGCATCGAGGGCCTGGCCTGGCTGGTCTGAGGGTACATGTTGGGAATTCACAGAGGTGACAGTGGCCTATTGTGGTGTTGGGGGGGCTGTAGCCACACAGTGAGTGGTTTCTCCTCAGGGCCTTCTCCAGACGTAGGGCTGTTCTGCTGTGACACATCAGGTTTAGCTTTTCTTGAATTAACTTTATTATTATTTTCTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCACCGTCATGATCTCGGCTCACTGCAACCTGTGTCTCCAGGGTTCAGGCGATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGACTATAGGTGCCGGCCCCCCACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACCCCTGACCTCAGGTGATTTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAATTAACTTTAGTTCATTTTTTAAAACGTTTATTTTGGTAAGTTAACATTTTCCTAGTTCATAATTTCTCCCTCCATCACCATGTCAGCCAAAATCCAAAATCTCTTAGAGATTACTTGGCACAACTTATGCGTTGGAGCTCCTGAGCTTGTCTGGGCTGGTTTTTGGGGAGCCCCAGAGCATAGACTGAGTCTTGCATGTCCCCCTGCAGAGCCTGGGCCTGGTGGACAGGAACAACGAACCGCTTACACACGCCATGTATAACCTGGCCTCTTTGCGTGAGCTGGGTGAGACCCAGCGCCGACCATGCACCATCCAGGTGCCCGAGCCCATCCTCCGCAAGATAGAGACCTTCCTGAACCATGTAAGAGGCCCTGCATCCCTCACCACCCCTGCTCCCTGTAGTCTGCCTCCATCTCTCCAGACTGAAGGCCTCCACCTGCGACAGGCAGTAGTACCTCCCCATTCTCTTCACTGAGTTTGGGGCCTGGGATCCCCCTGGCCTGAACAGCCCAGTCTTGCCCACAAGGATCCCGGGGCAGTCATGGACTAAATTAATCCTCTGCCCAGCGGGTTGGGCCACAACATCTGACCCAGGCGAATCCTGCAGAGTGGCTGGTTGTGTGTGAATGAGGAATTTCTTTTTCATTGTTTTGCTTGCCTCCCTGCCCTCCAGTACCCTGTGGAGAGTTCATGGATCGCCCCAGAACTCCGGCTGCAGAGTGATGACATCTTGCCCTTGGGCAAGGACTCAGGGCCTCTGAGTGACCCTATCACAGGCAAGCCCTATGTGCCCCTGTTGGAAGCAGAGGAGGTACGTCTCAGCCAGAGTCTGCTAGAACTGTGGCGGCGGCGAGGGCCGGTCTGGCAGGAGGCCCCCCAGCTACCTGTGGACCCACATCGGGACACCATCCTCAACGCCATTGAGCAGCACCCGGTGGTGGTCATCTCTGGGGACACGGGCTGTGGGAAGACCACGCGCATCCCCCAGCTGTTGCTGGAGCGCTATGTGACCGAGGGCCGAGGTGCCCGCTGCAATGTTATCATCACCCAACCTCGCCGCATCTCTGCTGTGTCTGTGGCACAGCGGGTCAGCCACGAACTGGGCCCCTCCCTGCGCCGGAATGTGGGCTTCCAGGTGCGGTTGGAAAGTAAGCCCCCATCCCGAGGCGGGGCCCTGCTCTTCTGCACTGTGGGTATCCTGCTGCGTAAGCTGCAGAGCAACCCCAGCCTGGAGGGCGTGAGCCACGTCATCGTGGATGAGGTGCATGAGCGGGACGTGAACACAGACTTTCTGCTGATCCTGCTCAAGGGCCTGCAGCGGCTCAACCCGGCCCTGCGGCTGGTGCTCATGAGTGCCACAGGGGACAATGAGCGCTTCTCCCGATACTTTGGTGGCTGCCCCGTCATCAAGGTGCCTGGCTTCATGTACCCAGTCAAGGAGCACTACCTAGAGGACATCCTGGCCAAGTTGGGCAAGCACCAGTACCTGCACCGGCACCGGCACCATGAGGTGAGGGACACCCCCATCCCACCCAAGGCTCCTGGCCTTTCCTCCGTGGATGCCCCTCCTCCCTGGCCCTGGGGCTTGGTGCCTGGGGCAAGTTACCCTCCCCAGTCCTCGGTTTCCTTGATAGAAACTGGGGACTAACCCTGCCTGCGTGGCACACGTGAGGATTGGAGTTGATGTCAAGCGGCTCCGTCTCACTGAGTCAGGTGGCTGTGTCCTTGGCATGACCCCTTACCCCGGGGCTGTGACTGTGGCCTCTCTTCCCCCACCCCAGTCTGAGGATGAATGCGCACTCGATTTGGACCTTGTGACTGATCTGGTTCTGCACATCGATGCTCGCGGGGAACCAGGTGGGTGCCTCCCCATCTGTCCCATGCTAGCCCTGGCCACGTTTGCAGCAACAGCTGGCTCATGCCCCAGGGCTCCTTTACAGGTGGGATCCTGTGCTTCCTGCCTGGGTGGCAGGAGATCAAAGGAGTGCAGCAGCGCCTCCAGGAGGCCCTGGGCATGCACGAGAGCAAGTACCTCATCCTGCCAGGTGAGAGCCCCGGCGGAGGGACCAGGGACCTTTGGAAACCAGCCTGACCTCTGTCCTAGGGACTGACCCAACTGGGACTCCAGGGGCCCCGGTTTCTGACCAAGCTGTGGCACTTTTCACTGGGCATAGTGTTTATCTGCGCCTGTTTCATCAAAATGGGGTCAAAATCCTTGCCCTGCCCACATTCCAGGGGGGAATTCTGGTGGAAGCAGTGCCCATAACTGGTGTGTGTCTTGCCCACCAGTGCACTCCAACATCCCCATGATGGATCAGAAGGCCATATTCCAGCAGCCTCCAGTTGGGGTGCGCAAGATTGTCTTGGCCACCAACATTGCTGAGACTTCCATCACAATCAATGACATCGTGCATGTGGTGGACAGTGGGCTGCACAAGGAAGAACGCTATGACCTGAAGACCAAGGTGGCACCTACCTCCTGGGCCCGGCCAACCACTGGGGGAGGGACTCCGTTTTGAGGTGGTCCCCAGCCCAGATCTACCTTAGACCTGCTTTGTGTGTCTTCAGAAGGCCGCGCTTGTGGGGTCTCAGTGTTCCTGATGTAGGGGGCTGGTGAGGGTTACTCAGGGAGTGGGGAAGCACTGAGGAAGTGGCATTTGTGTGCTGCTTACTTGCCACCTCCTCCAGGTGTCCTGCCTGGAGACAGTGTGGGTATCAAGAGCCAATGTGATCCAGCGCCGGGGCCGGGCGGGCCGCTGCCAGTCCGGCTTTGCCTACCACTTGTTCCCTCGAAGCCGGCTGGAGAAAATGGTCCCTTTCCAAGTGCCAGAGATCCTGCGCACACCTCTTGAGAACCTGGTGCTGCAAGCGAAAATCCACATGCCTGAGAAGACGGTGCGGCGGGGCGGGGCAGGGGCTGGCCTGGGGACCAGGCAGGTGGGAGGCAGGCTCATGGCGGGCTCTGGCTCTGTCATAGGCGGTGGAGTTCCTGTCCAAGGCTGTGGACAGTCCAAACATCAAGGCAGTGGACGAGGCTGTGATCTTGCTCCAGGAGATCGGTATGTAGGGGCTGGGCTGGGCTGGGCTGGGGAGTGGCTCTCGAGGGTGGTACTGACAGCTGAGCCGTTGCAGGGGTGCTGGACCAGCGGGAGTACCTGACTACCCTGGGGCAGCGCCTGGCTCACATCTCCACCGACCCCCGGTTGGCCAAGGCCATTGTGTTGGCTGCCATCTTCCGTTGCCTGCACCCACTACTGGTGGTCGTTTCCTGCCTCACCCGGGACCCCTTCAGCAGCAGCCTACAGAACCGGGC
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CAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCCAGTGGCTTGTTTGATCAAGTTGCATTATAATCGACATTTACAGGAAATTCCACGTGCATCTGTATATGATGGGGTCACAGATGGGTCGGGTGCCATGTAGGGATTGGGAGGCGGGATGGAAGGATTAGGGGAGGAAGGCTTTGATGAGGCAGCAAAGGAAGAGGGAGTCTGTGGGGTGCGTTCTAGCATCGAGGGCCTGGCCTGGCTGGTCTGAGGGTACATGTTGGGAATTCACAGAGGTGACAGTGGCCTATTGTGGTGTTGGGGGGGCTGTAGCCACACAGTGAGTGGTTTCTCCTCAGGGCCTTCTCCAGACGTAGGGCTGTTCTGCTGTGACACATCAGGTTTAGCTTTTCTTGAATTAACTTTATTATTATTTTCTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCACCGTCATGATCTCGGCTCACTGCAACCTGTGTCTCCAGGGTTCAGGCGATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGACTATAGGTGCCGGCCCCCCACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACCCCTGACCTCAGGTGATTTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAATTAACTTTAGTTCATTTTTTAAAACGTTTATTTTGGTAAGTTAACATTTTCCTAGTTCATAATTTCTCCCTCCATCACCATGTCAGCCAAAATCCAAAATCTCTTAGAGATTACTTGGCACAACTTATGCGTTGGAGCTCCTGAGCTTGTCTGGGCTGGTTTTTGGGGAGCCCCAGAGCATAGACTGAGTCTTGCATGTCCCCCTGCAGAGCCTGGGCCTGGTGGACAGGAACAACGAACCGCTTACACACGCCATGTATAACCTGGCCTCTTTGCGTGAGCTGGGTGAGACCCAGCGCCGACCATGCACCATCCAGGTGCCCGAGCCCATCCTCCGCAAGATAGAGACCTTCCTGAACCATGTAAGAGGCCCTGCATCCCTCACCACCCCTGCTCCCTGTAGTCTGCCTCCATCTCTCCAGACTGAAGGCCTCCACCTGCGACAGGCAGTAGTACCTCCCCATTCTCTTCACTGAGTTTGGGGCCTGGGATCCCCCTGGCCTGAACAGCCCAGTCTTGCCCACAAGGATCCCGGGGCAGTCATGGACTAAATTAATCCTCTGCCCAGCGGGTTGGGCCACAACATCTGACCCAGGCGAATCCTGCAGAGTGGCTGGTTGTGTGTGAATGAGGAATTTCTTTTTCATTGTTTTGCTTGCCTCCCTGCCCTCCAGTACCCTGTGGAGAGTTCATGGATCGCCCCAGAACTCCGGCTGCAGAGTGATGACATCTTGCCCTTGGGCAAGGACTCAGGGCCTCTGAGTGACCCTATCACAGGCAAGCCCTATGTGCCCCTGTTGGAAGCAGAGGAGGTACGTCTCAGCCAGAGTCTGCTAGAACTGTGGCGGCGGCGAGGGCCGGTCTGGCAGGAGGCCCCCCAGCTACCTGTGGACCCACATCGGGACACCATCCTCAACGCCATTGAGCAGCACCCGGTGGTGGTCATCTCTGGGGACACGGGCTGTGGGAAGACCACGCGCATCCCCCAGCTGTTGCTGGAGCGCTATGTGACCGAGGGCCGAGGTGCCCGCTGCAATGTTATCATCACCCAACCTCGCCGCATCTCTGCTGTGTCTGTGGCACAGCGGGTCAGCCACGAACTGGGCCCCTCCCTGCGCCGGAATGTGGGCTTCCAGGTGCGGTTGGAAAGTAAGCCCCCATCCCGAGGCGGGGCCCTGCTCTTCTGCACTGTGGGTATCCTGCTGCGTAAGCTGCAGAGCAACCCCAGCCTGGAGGGCGTGAGCCACGTCATCGTGGATGAGGTGCGTGAGCGGGACGTGAACACAGACTTTCTGCTGATCCTGCTCAAGGGCCTGCAGCGGCTCAACCCGGCCCTGCGGCTGGTGCTCATGAGTGCCACAGGGGACAATGAGCGCTTCTCCCGATACTTTGGTGGCTGCCCCGTCATCAAGGTGCCTGGCTTCATGTACCCAGTCAAGGAGCACTACCTAGAGGACATCCTGGCCAAGTTGGGCAAGCACCAGTACCTGCACCGGCACCGGCACCATGAGGTGAGGGACACCCCCATCCCACCCAAGGCTCCTGGCCTTTCCTCCGTGGATGCCCCTCCTCCCTGGCCCTGGGGCTTGGTGCCTGGGGCAAGTTACCCTCCCCAGTCCTCGGTTTCCTTGATAGAAACTGGGGACTAACCCTGCCTGCGTGGCACACGTGAGGATTGGAGTTGATGTCAAGCGGCTCCGTCTCACTGAGTCAGGTGGCTGTGTCCTTGGCATGACCCCTTACCCCGGGGCTGTGACTGTGGCCTCTCTTCCCCCACCCCAGTCTGAGGATGAATGCGCACTCGATTTGGACCTTGTGACTGATCTGGTTCTGCACATCGATGCTCGCGGGGAACCAGGTGGGTGCCTCCCCATCTGTCCCATGCTAGCCCTGGCCACGTTTGCAGCAACAGCTGGCTCATGCCCCAGGGCTCCTTTACAGGTGGGATCCTGTGCTTCCTGCCTGGGTGGCAGGAGATCAAAGGAGTGCAGCAGCGCCTCCAGGAGGCCCTGGGCATGCACGAGAGCAAGTACCTCATCCTGCCAGGTGAGAGCCCCGGCGGAGGGACCAGGGACCTTTGGAAACCAGCCTGACCTCTGTCCTAGGGACTGACCCAACTGGGACTCCAGGGGCCCCGGTTTCTGACCAAGCTGTGGCACTTTTCACTGGGCATAGTGTTTATCTGCGCCTGTTTCATCAAAATGGGGTCAAAATCCTTGCCCTGCCCACATTCCAGGGGGGAATTCTGGTGGAAGCAGTGCCCATAACTGGTGTGTGTCTTGCCCACCAGTGCACTCCAACATCCCCATGATGGATCAGAAGGCCATATTCCAGCAGCCTCCAGTTGGGGTGCGCAAGATTGTCTTGGCCACCAACATTGCTGAGACTTCCATCACAATCAATGACATCGTGCATGTGGTGGACAGTGGGCTGCACAAGGAAGAACGCTATGACCTGAAGACCAAGGTGGCACCTACCTCCTGGGCCCGGCCAACCACTGGGGGAGGGACTCCGTTTTGAGGTGGTCCCCAGCCCAGATCTACCTTAGACCTGCTTTGTGTGTCTTCAGAAGGCCGCGCTTGTGGGGTCTCAGTGTTCCTGATGTAGGGGGCTGGTGAGGGTTACTCAGGGAGTGGGGAAGCACTGAGGAAGTGGCATTTGTGTGCTGCTTACTTGCCACCTCCTCCAGGTGTCCTGCCTGGAGACAGTGTGGGTATCAAGAGCCAATGTGATCCAGCGCCGGGGCCGGGCGGGCCGCTGCCAGTCCGGCTTTGCCTACCACTTGTTCCCTCGAAGCCGGCTGGAGAAAATGGTCCCTTTCCAAGTGCCAGAGATCCTGCGCACACCTCTTGAGAACCTGGTGCTGCAAGCGAAAATCCACATGCCTGAGAAGACGGTGCGGCGGGGCGGGGCAGGGGCTGGCCTGGGGACCAGGCAGGTGGGAGGCAGGCTCATGGCGGGCTCTGGCTCTGTCATAGGCGGTGGAGTTCCTGTCCAAGGCTGTGGACAGTCCAAACATCAAGGCAGTGGACGAGGCTGTGATCTTGCTCCAGGAGATCGGTATGTAGGGGCTGGGCTGGGCTGGGCTGGGGAGTGGCTCTCGAGGGTGGTACTGACAGCTGAGCCGTTGCAGGGGTGCTGGACCAGCGGGAGTACCTGACTACCCTGGGGCAGCGCCTGGCTCACATCTCCACCGACCCCCGGTTGGCCAAGGCCATTGTGTTGGCTGCCATCTTCCGTTGCCTGCACCCACTACTGGTGGTCGTTTCCTGCCTCACCCGGGACCCCTTCAGCAGCAGCCTACAGAACCGGGC
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Task1_train_6736
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This variant impacts the gene DHX30 (DExH-box helicase 30) on Chromosome 3. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Hearing impairment
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CAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCCAGTGGCTTGTTTGATCAAGTTGCATTATAATCGACATTTACAGGAAATTCCACGTGCATCTGTATATGATGGGGTCACAGATGGGTCGGGTGCCATGTAGGGATTGGGAGGCGGGATGGAAGGATTAGGGGAGGAAGGCTTTGATGAGGCAGCAAAGGAAGAGGGAGTCTGTGGGGTGCGTTCTAGCATCGAGGGCCTGGCCTGGCTGGTCTGAGGGTACATGTTGGGAATTCACAGAGGTGACAGTGGCCTATTGTGGTGTTGGGGGGGCTGTAGCCACACAGTGAGTGGTTTCTCCTCAGGGCCTTCTCCAGACGTAGGGCTGTTCTGCTGTGACACATCAGGTTTAGCTTTTCTTGAATTAACTTTATTATTATTTTCTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCACCGTCATGATCTCGGCTCACTGCAACCTGTGTCTCCAGGGTTCAGGCGATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGACTATAGGTGCCGGCCCCCCACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACCCCTGACCTCAGGTGATTTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAATTAACTTTAGTTCATTTTTTAAAACGTTTATTTTGGTAAGTTAACATTTTCCTAGTTCATAATTTCTCCCTCCATCACCATGTCAGCCAAAATCCAAAATCTCTTAGAGATTACTTGGCACAACTTATGCGTTGGAGCTCCTGAGCTTGTCTGGGCTGGTTTTTGGGGAGCCCCAGAGCATAGACTGAGTCTTGCATGTCCCCCTGCAGAGCCTGGGCCTGGTGGACAGGAACAACGAACCGCTTACACACGCCATGTATAACCTGGCCTCTTTGCGTGAGCTGGGTGAGACCCAGCGCCGACCATGCACCATCCAGGTGCCCGAGCCCATCCTCCGCAAGATAGAGACCTTCCTGAACCATGTAAGAGGCCCTGCATCCCTCACCACCCCTGCTCCCTGTAGTCTGCCTCCATCTCTCCAGACTGAAGGCCTCCACCTGCGACAGGCAGTAGTACCTCCCCATTCTCTTCACTGAGTTTGGGGCCTGGGATCCCCCTGGCCTGAACAGCCCAGTCTTGCCCACAAGGATCCCGGGGCAGTCATGGACTAAATTAATCCTCTGCCCAGCGGGTTGGGCCACAACATCTGACCCAGGCGAATCCTGCAGAGTGGCTGGTTGTGTGTGAATGAGGAATTTCTTTTTCATTGTTTTGCTTGCCTCCCTGCCCTCCAGTACCCTGTGGAGAGTTCATGGATCGCCCCAGAACTCCGGCTGCAGAGTGATGACATCTTGCCCTTGGGCAAGGACTCAGGGCCTCTGAGTGACCCTATCACAGGCAAGCCCTATGTGCCCCTGTTGGAAGCAGAGGAGGTACGTCTCAGCCAGAGTCTGCTAGAACTGTGGCGGCGGCGAGGGCCGGTCTGGCAGGAGGCCCCCCAGCTACCTGTGGACCCACATCGGGACACCATCCTCAACGCCATTGAGCAGCACCCGGTGGTGGTCATCTCTGGGGACACGGGCTGTGGGAAGACCACGCGCATCCCCCAGCTGTTGCTGGAGCGCTATGTGACCGAGGGCCGAGGTGCCCGCTGCAATGTTATCATCACCCAACCTCGCCGCATCTCTGCTGTGTCTGTGGCACAGCGGGTCAGCCACGAACTGGGCCCCTCCCTGCGCCGGAATGTGGGCTTCCAGGTGCGGTTGGAAAGTAAGCCCCCATCCCGAGGCGGGGCCCTGCTCTTCTGCACTGTGGGTATCCTGCTGCGTAAGCTGCAGAGCAACCCCAGCCTGGAGGGCGTGAGCCACGTCATCGTGGATGAGGTGCATGAGCGGGACGTGAACACAGACTTTCTGCTGATCCTGCTCAAGGGCCTGCAGCGGCTCAACCCGGCCCTGCGGCTGGTGCTCATGAGTGCCACAGGGGACAATGAGCGCTTCTCCCGATACTTTGGTGGCTGCCCCGTCATCAAGGTGCCTGGCTTCATGTACCCAGTCAAGGAGCACTACCTAGAGGACATCCTGGCCAAGTTGGGCAAGCACCAGTACCTGCACCGGCACCGGCACCATGAGGTGAGGGACACCCCCATCCCACCCAAGGCTCCTGGCCTTTCCTCCGTGGATGCCCCTCCTCCCTGGCCCTGGGGCTTGGTGCCTGGGGCAAGTTACCCTCCCCAGTCCTCGGTTTCCTTGATAGAAACTGGGGACTAACCCTGCCTGCGTGGCACACGTGAGGATTGGAGTTGATGTCAAGCGGCTCCGTCTCACTGAGTCAGGTGGCTGTGTCCTTGGCATGACCCCTTACCCCGGGGCTGTGACTGTGGCCTCTCTTCCCCCACCCCAGTCTGAGGATGAATGCGCACTCGATTTGGACCTTGTGACTGATCTGGTTCTGCACATCGATGCTCGCGGGGAACCAGGTGGGTGCCTCCCCATCTGTCCCATGCTAGCCCTGGCCACGTTTGCAGCAACAGCTGGCTCATGCCCCAGGGCTCCTTTACAGGTGGGATCCTGTGCTTCCTGCCTGGGTGGCAGGAGATCAAAGGAGTGCAGCAGCGCCTCCAGGAGGCCCTGGGCATGCACGAGAGCAAGTACCTCATCCTGCCAGGTGAGAGCCCCGGCGGAGGGACCAGGGACCTTTGGAAACCAGCCTGACCTCTGTCCTAGGGACTGACCCAACTGGGACTCCAGGGGCCCCGGTTTCTGACCAAGCTGTGGCACTTTTCACTGGGCATAGTGTTTATCTGCGCCTGTTTCATCAAAATGGGGTCAAAATCCTTGCCCTGCCCACATTCCAGGGGGGAATTCTGGTGGAAGCAGTGCCCATAACTGGTGTGTGTCTTGCCCACCAGTGCACTCCAACATCCCCATGATGGATCAGAAGGCCATATTCCAGCAGCCTCCAGTTGGGGTGCGCAAGATTGTCTTGGCCACCAACATTGCTGAGACTTCCATCACAATCAATGACATCGTGCATGTGGTGGACAGTGGGCTGCACAAGGAAGAACGCTATGACCTGAAGACCAAGGTGGCACCTACCTCCTGGGCCCGGCCAACCACTGGGGGAGGGACTCCGTTTTGAGGTGGTCCCCAGCCCAGATCTACCTTAGACCTGCTTTGTGTGTCTTCAGAAGGCCGCGCTTGTGGGGTCTCAGTGTTCCTGATGTAGGGGGCTGGTGAGGGTTACTCAGGGAGTGGGGAAGCACTGAGGAAGTGGCATTTGTGTGCTGCTTACTTGCCACCTCCTCCAGGTGTCCTGCCTGGAGACAGTGTGGGTATCAAGAGCCAATGTGATCCAGCGCCGGGGCCGGGCGGGCCGCTGCCAGTCCGGCTTTGCCTACCACTTGTTCCCTCGAAGCCGGCTGGAGAAAATGGTCCCTTTCCAAGTGCCAGAGATCCTGCGCACACCTCTTGAGAACCTGGTGCTGCAAGCGAAAATCCACATGCCTGAGAAGACGGTGCGGCGGGGCGGGGCAGGGGCTGGCCTGGGGACCAGGCAGGTGGGAGGCAGGCTCATGGCGGGCTCTGGCTCTGTCATAGGCGGTGGAGTTCCTGTCCAAGGCTGTGGACAGTCCAAACATCAAGGCAGTGGACGAGGCTGTGATCTTGCTCCAGGAGATCGGTATGTAGGGGCTGGGCTGGGCTGGGCTGGGGAGTGGCTCTCGAGGGTGGTACTGACAGCTGAGCCGTTGCAGGGGTGCTGGACCAGCGGGAGTACCTGACTACCCTGGGGCAGCGCCTGGCTCACATCTCCACCGACCCCCGGTTGGCCAAGGCCATTGTGTTGGCTGCCATCTTCCGTTGCCTGCACCCACTACTGGTGGTCGTTTCCTGCCTCACCCGGGACCCCTTCAGCAGCAGCCTACAGAACCGGGC
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CAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCCAGTGGCTTGTTTGATCAAGTTGCATTATAATCGACATTTACAGGAAATTCCACGTGCATCTGTATATGATGGGGTCACAGATGGGTCGGGTGCCATGTAGGGATTGGGAGGCGGGATGGAAGGATTAGGGGAGGAAGGCTTTGATGAGGCAGCAAAGGAAGAGGGAGTCTGTGGGGTGCGTTCTAGCATCGAGGGCCTGGCCTGGCTGGTCTGAGGGTACATGTTGGGAATTCACAGAGGTGACAGTGGCCTATTGTGGTGTTGGGGGGGCTGTAGCCACACAGTGAGTGGTTTCTCCTCAGGGCCTTCTCCAGACGTAGGGCTGTTCTGCTGTGACACATCAGGTTTAGCTTTTCTTGAATTAACTTTATTATTATTTTCTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCACCGTCATGATCTCGGCTCACTGCAACCTGTGTCTCCAGGGTTCAGGCGATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGACTATAGGTGCCGGCCCCCCACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACCCCTGACCTCAGGTGATTTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAATTAACTTTAGTTCATTTTTTAAAACGTTTATTTTGGTAAGTTAACATTTTCCTAGTTCATAATTTCTCCCTCCATCACCATGTCAGCCAAAATCCAAAATCTCTTAGAGATTACTTGGCACAACTTATGCGTTGGAGCTCCTGAGCTTGTCTGGGCTGGTTTTTGGGGAGCCCCAGAGCATAGACTGAGTCTTGCATGTCCCCCTGCAGAGCCTGGGCCTGGTGGACAGGAACAACGAACCGCTTACACACGCCATGTATAACCTGGCCTCTTTGCGTGAGCTGGGTGAGACCCAGCGCCGACCATGCACCATCCAGGTGCCCGAGCCCATCCTCCGCAAGATAGAGACCTTCCTGAACCATGTAAGAGGCCCTGCATCCCTCACCACCCCTGCTCCCTGTAGTCTGCCTCCATCTCTCCAGACTGAAGGCCTCCACCTGCGACAGGCAGTAGTACCTCCCCATTCTCTTCACTGAGTTTGGGGCCTGGGATCCCCCTGGCCTGAACAGCCCAGTCTTGCCCACAAGGATCCCGGGGCAGTCATGGACTAAATTAATCCTCTGCCCAGCGGGTTGGGCCACAACATCTGACCCAGGCGAATCCTGCAGAGTGGCTGGTTGTGTGTGAATGAGGAATTTCTTTTTCATTGTTTTGCTTGCCTCCCTGCCCTCCAGTACCCTGTGGAGAGTTCATGGATCGCCCCAGAACTCCGGCTGCAGAGTGATGACATCTTGCCCTTGGGCAAGGACTCAGGGCCTCTGAGTGACCCTATCACAGGCAAGCCCTATGTGCCCCTGTTGGAAGCAGAGGAGGTACGTCTCAGCCAGAGTCTGCTAGAACTGTGGCGGCGGCGAGGGCCGGTCTGGCAGGAGGCCCCCCAGCTACCTGTGGACCCACATCGGGACACCATCCTCAACGCCATTGAGCAGCACCCGGTGGTGGTCATCTCTGGGGACACGGGCTGTGGGAAGACCACGCGCATCCCCCAGCTGTTGCTGGAGCGCTATGTGACCGAGGGCCGAGGTGCCCGCTGCAATGTTATCATCACCCAACCTCGCCGCATCTCTGCTGTGTCTGTGGCACAGCGGGTCAGCCACGAACTGGGCCCCTCCCTGCGCCGGAATGTGGGCTTCCAGGTGCGGTTGGAAAGTAAGCCCCCATCCCGAGGCGGGGCCCTGCTCTTCTGCACTGTGGGTATCCTGCTGCGTAAGCTGCAGAGCAACCCCAGCCTGGAGGGCGTGAGCCACGTCATCGTGGATGAGGTGCGTGAGCGGGACGTGAACACAGACTTTCTGCTGATCCTGCTCAAGGGCCTGCAGCGGCTCAACCCGGCCCTGCGGCTGGTGCTCATGAGTGCCACAGGGGACAATGAGCGCTTCTCCCGATACTTTGGTGGCTGCCCCGTCATCAAGGTGCCTGGCTTCATGTACCCAGTCAAGGAGCACTACCTAGAGGACATCCTGGCCAAGTTGGGCAAGCACCAGTACCTGCACCGGCACCGGCACCATGAGGTGAGGGACACCCCCATCCCACCCAAGGCTCCTGGCCTTTCCTCCGTGGATGCCCCTCCTCCCTGGCCCTGGGGCTTGGTGCCTGGGGCAAGTTACCCTCCCCAGTCCTCGGTTTCCTTGATAGAAACTGGGGACTAACCCTGCCTGCGTGGCACACGTGAGGATTGGAGTTGATGTCAAGCGGCTCCGTCTCACTGAGTCAGGTGGCTGTGTCCTTGGCATGACCCCTTACCCCGGGGCTGTGACTGTGGCCTCTCTTCCCCCACCCCAGTCTGAGGATGAATGCGCACTCGATTTGGACCTTGTGACTGATCTGGTTCTGCACATCGATGCTCGCGGGGAACCAGGTGGGTGCCTCCCCATCTGTCCCATGCTAGCCCTGGCCACGTTTGCAGCAACAGCTGGCTCATGCCCCAGGGCTCCTTTACAGGTGGGATCCTGTGCTTCCTGCCTGGGTGGCAGGAGATCAAAGGAGTGCAGCAGCGCCTCCAGGAGGCCCTGGGCATGCACGAGAGCAAGTACCTCATCCTGCCAGGTGAGAGCCCCGGCGGAGGGACCAGGGACCTTTGGAAACCAGCCTGACCTCTGTCCTAGGGACTGACCCAACTGGGACTCCAGGGGCCCCGGTTTCTGACCAAGCTGTGGCACTTTTCACTGGGCATAGTGTTTATCTGCGCCTGTTTCATCAAAATGGGGTCAAAATCCTTGCCCTGCCCACATTCCAGGGGGGAATTCTGGTGGAAGCAGTGCCCATAACTGGTGTGTGTCTTGCCCACCAGTGCACTCCAACATCCCCATGATGGATCAGAAGGCCATATTCCAGCAGCCTCCAGTTGGGGTGCGCAAGATTGTCTTGGCCACCAACATTGCTGAGACTTCCATCACAATCAATGACATCGTGCATGTGGTGGACAGTGGGCTGCACAAGGAAGAACGCTATGACCTGAAGACCAAGGTGGCACCTACCTCCTGGGCCCGGCCAACCACTGGGGGAGGGACTCCGTTTTGAGGTGGTCCCCAGCCCAGATCTACCTTAGACCTGCTTTGTGTGTCTTCAGAAGGCCGCGCTTGTGGGGTCTCAGTGTTCCTGATGTAGGGGGCTGGTGAGGGTTACTCAGGGAGTGGGGAAGCACTGAGGAAGTGGCATTTGTGTGCTGCTTACTTGCCACCTCCTCCAGGTGTCCTGCCTGGAGACAGTGTGGGTATCAAGAGCCAATGTGATCCAGCGCCGGGGCCGGGCGGGCCGCTGCCAGTCCGGCTTTGCCTACCACTTGTTCCCTCGAAGCCGGCTGGAGAAAATGGTCCCTTTCCAAGTGCCAGAGATCCTGCGCACACCTCTTGAGAACCTGGTGCTGCAAGCGAAAATCCACATGCCTGAGAAGACGGTGCGGCGGGGCGGGGCAGGGGCTGGCCTGGGGACCAGGCAGGTGGGAGGCAGGCTCATGGCGGGCTCTGGCTCTGTCATAGGCGGTGGAGTTCCTGTCCAAGGCTGTGGACAGTCCAAACATCAAGGCAGTGGACGAGGCTGTGATCTTGCTCCAGGAGATCGGTATGTAGGGGCTGGGCTGGGCTGGGCTGGGGAGTGGCTCTCGAGGGTGGTACTGACAGCTGAGCCGTTGCAGGGGTGCTGGACCAGCGGGAGTACCTGACTACCCTGGGGCAGCGCCTGGCTCACATCTCCACCGACCCCCGGTTGGCCAAGGCCATTGTGTTGGCTGCCATCTTCCGTTGCCTGCACCCACTACTGGTGGTCGTTTCCTGCCTCACCCGGGACCCCTTCAGCAGCAGCCTACAGAACCGGGC
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Task1_train_6737
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Consider a variant on Chromosome 3 in gene DHX30 (DExH-box helicase 30). Determine its clinical classification and disease relevance.
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Pathogenic; Axial hypotonia
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CAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCCAGTGGCTTGTTTGATCAAGTTGCATTATAATCGACATTTACAGGAAATTCCACGTGCATCTGTATATGATGGGGTCACAGATGGGTCGGGTGCCATGTAGGGATTGGGAGGCGGGATGGAAGGATTAGGGGAGGAAGGCTTTGATGAGGCAGCAAAGGAAGAGGGAGTCTGTGGGGTGCGTTCTAGCATCGAGGGCCTGGCCTGGCTGGTCTGAGGGTACATGTTGGGAATTCACAGAGGTGACAGTGGCCTATTGTGGTGTTGGGGGGGCTGTAGCCACACAGTGAGTGGTTTCTCCTCAGGGCCTTCTCCAGACGTAGGGCTGTTCTGCTGTGACACATCAGGTTTAGCTTTTCTTGAATTAACTTTATTATTATTTTCTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCACCGTCATGATCTCGGCTCACTGCAACCTGTGTCTCCAGGGTTCAGGCGATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGACTATAGGTGCCGGCCCCCCACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACCCCTGACCTCAGGTGATTTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAATTAACTTTAGTTCATTTTTTAAAACGTTTATTTTGGTAAGTTAACATTTTCCTAGTTCATAATTTCTCCCTCCATCACCATGTCAGCCAAAATCCAAAATCTCTTAGAGATTACTTGGCACAACTTATGCGTTGGAGCTCCTGAGCTTGTCTGGGCTGGTTTTTGGGGAGCCCCAGAGCATAGACTGAGTCTTGCATGTCCCCCTGCAGAGCCTGGGCCTGGTGGACAGGAACAACGAACCGCTTACACACGCCATGTATAACCTGGCCTCTTTGCGTGAGCTGGGTGAGACCCAGCGCCGACCATGCACCATCCAGGTGCCCGAGCCCATCCTCCGCAAGATAGAGACCTTCCTGAACCATGTAAGAGGCCCTGCATCCCTCACCACCCCTGCTCCCTGTAGTCTGCCTCCATCTCTCCAGACTGAAGGCCTCCACCTGCGACAGGCAGTAGTACCTCCCCATTCTCTTCACTGAGTTTGGGGCCTGGGATCCCCCTGGCCTGAACAGCCCAGTCTTGCCCACAAGGATCCCGGGGCAGTCATGGACTAAATTAATCCTCTGCCCAGCGGGTTGGGCCACAACATCTGACCCAGGCGAATCCTGCAGAGTGGCTGGTTGTGTGTGAATGAGGAATTTCTTTTTCATTGTTTTGCTTGCCTCCCTGCCCTCCAGTACCCTGTGGAGAGTTCATGGATCGCCCCAGAACTCCGGCTGCAGAGTGATGACATCTTGCCCTTGGGCAAGGACTCAGGGCCTCTGAGTGACCCTATCACAGGCAAGCCCTATGTGCCCCTGTTGGAAGCAGAGGAGGTACGTCTCAGCCAGAGTCTGCTAGAACTGTGGCGGCGGCGAGGGCCGGTCTGGCAGGAGGCCCCCCAGCTACCTGTGGACCCACATCGGGACACCATCCTCAACGCCATTGAGCAGCACCCGGTGGTGGTCATCTCTGGGGACACGGGCTGTGGGAAGACCACGCGCATCCCCCAGCTGTTGCTGGAGCGCTATGTGACCGAGGGCCGAGGTGCCCGCTGCAATGTTATCATCACCCAACCTCGCCGCATCTCTGCTGTGTCTGTGGCACAGCGGGTCAGCCACGAACTGGGCCCCTCCCTGCGCCGGAATGTGGGCTTCCAGGTGCGGTTGGAAAGTAAGCCCCCATCCCGAGGCGGGGCCCTGCTCTTCTGCACTGTGGGTATCCTGCTGCGTAAGCTGCAGAGCAACCCCAGCCTGGAGGGCGTGAGCCACGTCATCGTGGATGAGGTGCATGAGCGGGACGTGAACACAGACTTTCTGCTGATCCTGCTCAAGGGCCTGCAGCGGCTCAACCCGGCCCTGCGGCTGGTGCTCATGAGTGCCACAGGGGACAATGAGCGCTTCTCCCGATACTTTGGTGGCTGCCCCGTCATCAAGGTGCCTGGCTTCATGTACCCAGTCAAGGAGCACTACCTAGAGGACATCCTGGCCAAGTTGGGCAAGCACCAGTACCTGCACCGGCACCGGCACCATGAGGTGAGGGACACCCCCATCCCACCCAAGGCTCCTGGCCTTTCCTCCGTGGATGCCCCTCCTCCCTGGCCCTGGGGCTTGGTGCCTGGGGCAAGTTACCCTCCCCAGTCCTCGGTTTCCTTGATAGAAACTGGGGACTAACCCTGCCTGCGTGGCACACGTGAGGATTGGAGTTGATGTCAAGCGGCTCCGTCTCACTGAGTCAGGTGGCTGTGTCCTTGGCATGACCCCTTACCCCGGGGCTGTGACTGTGGCCTCTCTTCCCCCACCCCAGTCTGAGGATGAATGCGCACTCGATTTGGACCTTGTGACTGATCTGGTTCTGCACATCGATGCTCGCGGGGAACCAGGTGGGTGCCTCCCCATCTGTCCCATGCTAGCCCTGGCCACGTTTGCAGCAACAGCTGGCTCATGCCCCAGGGCTCCTTTACAGGTGGGATCCTGTGCTTCCTGCCTGGGTGGCAGGAGATCAAAGGAGTGCAGCAGCGCCTCCAGGAGGCCCTGGGCATGCACGAGAGCAAGTACCTCATCCTGCCAGGTGAGAGCCCCGGCGGAGGGACCAGGGACCTTTGGAAACCAGCCTGACCTCTGTCCTAGGGACTGACCCAACTGGGACTCCAGGGGCCCCGGTTTCTGACCAAGCTGTGGCACTTTTCACTGGGCATAGTGTTTATCTGCGCCTGTTTCATCAAAATGGGGTCAAAATCCTTGCCCTGCCCACATTCCAGGGGGGAATTCTGGTGGAAGCAGTGCCCATAACTGGTGTGTGTCTTGCCCACCAGTGCACTCCAACATCCCCATGATGGATCAGAAGGCCATATTCCAGCAGCCTCCAGTTGGGGTGCGCAAGATTGTCTTGGCCACCAACATTGCTGAGACTTCCATCACAATCAATGACATCGTGCATGTGGTGGACAGTGGGCTGCACAAGGAAGAACGCTATGACCTGAAGACCAAGGTGGCACCTACCTCCTGGGCCCGGCCAACCACTGGGGGAGGGACTCCGTTTTGAGGTGGTCCCCAGCCCAGATCTACCTTAGACCTGCTTTGTGTGTCTTCAGAAGGCCGCGCTTGTGGGGTCTCAGTGTTCCTGATGTAGGGGGCTGGTGAGGGTTACTCAGGGAGTGGGGAAGCACTGAGGAAGTGGCATTTGTGTGCTGCTTACTTGCCACCTCCTCCAGGTGTCCTGCCTGGAGACAGTGTGGGTATCAAGAGCCAATGTGATCCAGCGCCGGGGCCGGGCGGGCCGCTGCCAGTCCGGCTTTGCCTACCACTTGTTCCCTCGAAGCCGGCTGGAGAAAATGGTCCCTTTCCAAGTGCCAGAGATCCTGCGCACACCTCTTGAGAACCTGGTGCTGCAAGCGAAAATCCACATGCCTGAGAAGACGGTGCGGCGGGGCGGGGCAGGGGCTGGCCTGGGGACCAGGCAGGTGGGAGGCAGGCTCATGGCGGGCTCTGGCTCTGTCATAGGCGGTGGAGTTCCTGTCCAAGGCTGTGGACAGTCCAAACATCAAGGCAGTGGACGAGGCTGTGATCTTGCTCCAGGAGATCGGTATGTAGGGGCTGGGCTGGGCTGGGCTGGGGAGTGGCTCTCGAGGGTGGTACTGACAGCTGAGCCGTTGCAGGGGTGCTGGACCAGCGGGAGTACCTGACTACCCTGGGGCAGCGCCTGGCTCACATCTCCACCGACCCCCGGTTGGCCAAGGCCATTGTGTTGGCTGCCATCTTCCGTTGCCTGCACCCACTACTGGTGGTCGTTTCCTGCCTCACCCGGGACCCCTTCAGCAGCAGCCTACAGAACCGGGC
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CAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCCAGTGGCTTGTTTGATCAAGTTGCATTATAATCGACATTTACAGGAAATTCCACGTGCATCTGTATATGATGGGGTCACAGATGGGTCGGGTGCCATGTAGGGATTGGGAGGCGGGATGGAAGGATTAGGGGAGGAAGGCTTTGATGAGGCAGCAAAGGAAGAGGGAGTCTGTGGGGTGCGTTCTAGCATCGAGGGCCTGGCCTGGCTGGTCTGAGGGTACATGTTGGGAATTCACAGAGGTGACAGTGGCCTATTGTGGTGTTGGGGGGGCTGTAGCCACACAGTGAGTGGTTTCTCCTCAGGGCCTTCTCCAGACGTAGGGCTGTTCTGCTGTGACACATCAGGTTTAGCTTTTCTTGAATTAACTTTATTATTATTTTCTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCACCGTCATGATCTCGGCTCACTGCAACCTGTGTCTCCAGGGTTCAGGCGATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGACTATAGGTGCCGGCCCCCCACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACCCCTGACCTCAGGTGATTTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAATTAACTTTAGTTCATTTTTTAAAACGTTTATTTTGGTAAGTTAACATTTTCCTAGTTCATAATTTCTCCCTCCATCACCATGTCAGCCAAAATCCAAAATCTCTTAGAGATTACTTGGCACAACTTATGCGTTGGAGCTCCTGAGCTTGTCTGGGCTGGTTTTTGGGGAGCCCCAGAGCATAGACTGAGTCTTGCATGTCCCCCTGCAGAGCCTGGGCCTGGTGGACAGGAACAACGAACCGCTTACACACGCCATGTATAACCTGGCCTCTTTGCGTGAGCTGGGTGAGACCCAGCGCCGACCATGCACCATCCAGGTGCCCGAGCCCATCCTCCGCAAGATAGAGACCTTCCTGAACCATGTAAGAGGCCCTGCATCCCTCACCACCCCTGCTCCCTGTAGTCTGCCTCCATCTCTCCAGACTGAAGGCCTCCACCTGCGACAGGCAGTAGTACCTCCCCATTCTCTTCACTGAGTTTGGGGCCTGGGATCCCCCTGGCCTGAACAGCCCAGTCTTGCCCACAAGGATCCCGGGGCAGTCATGGACTAAATTAATCCTCTGCCCAGCGGGTTGGGCCACAACATCTGACCCAGGCGAATCCTGCAGAGTGGCTGGTTGTGTGTGAATGAGGAATTTCTTTTTCATTGTTTTGCTTGCCTCCCTGCCCTCCAGTACCCTGTGGAGAGTTCATGGATCGCCCCAGAACTCCGGCTGCAGAGTGATGACATCTTGCCCTTGGGCAAGGACTCAGGGCCTCTGAGTGACCCTATCACAGGCAAGCCCTATGTGCCCCTGTTGGAAGCAGAGGAGGTACGTCTCAGCCAGAGTCTGCTAGAACTGTGGCGGCGGCGAGGGCCGGTCTGGCAGGAGGCCCCCCAGCTACCTGTGGACCCACATCGGGACACCATCCTCAACGCCATTGAGCAGCACCCGGTGGTGGTCATCTCTGGGGACACGGGCTGTGGGAAGACCACGCGCATCCCCCAGCTGTTGCTGGAGCGCTATGTGACCGAGGGCCGAGGTGCCCGCTGCAATGTTATCATCACCCAACCTCGCCGCATCTCTGCTGTGTCTGTGGCACAGCGGGTCAGCCACGAACTGGGCCCCTCCCTGCGCCGGAATGTGGGCTTCCAGGTGCGGTTGGAAAGTAAGCCCCCATCCCGAGGCGGGGCCCTGCTCTTCTGCACTGTGGGTATCCTGCTGCGTAAGCTGCAGAGCAACCCCAGCCTGGAGGGCGTGAGCCACGTCATCGTGGATGAGGTGCGTGAGCGGGACGTGAACACAGACTTTCTGCTGATCCTGCTCAAGGGCCTGCAGCGGCTCAACCCGGCCCTGCGGCTGGTGCTCATGAGTGCCACAGGGGACAATGAGCGCTTCTCCCGATACTTTGGTGGCTGCCCCGTCATCAAGGTGCCTGGCTTCATGTACCCAGTCAAGGAGCACTACCTAGAGGACATCCTGGCCAAGTTGGGCAAGCACCAGTACCTGCACCGGCACCGGCACCATGAGGTGAGGGACACCCCCATCCCACCCAAGGCTCCTGGCCTTTCCTCCGTGGATGCCCCTCCTCCCTGGCCCTGGGGCTTGGTGCCTGGGGCAAGTTACCCTCCCCAGTCCTCGGTTTCCTTGATAGAAACTGGGGACTAACCCTGCCTGCGTGGCACACGTGAGGATTGGAGTTGATGTCAAGCGGCTCCGTCTCACTGAGTCAGGTGGCTGTGTCCTTGGCATGACCCCTTACCCCGGGGCTGTGACTGTGGCCTCTCTTCCCCCACCCCAGTCTGAGGATGAATGCGCACTCGATTTGGACCTTGTGACTGATCTGGTTCTGCACATCGATGCTCGCGGGGAACCAGGTGGGTGCCTCCCCATCTGTCCCATGCTAGCCCTGGCCACGTTTGCAGCAACAGCTGGCTCATGCCCCAGGGCTCCTTTACAGGTGGGATCCTGTGCTTCCTGCCTGGGTGGCAGGAGATCAAAGGAGTGCAGCAGCGCCTCCAGGAGGCCCTGGGCATGCACGAGAGCAAGTACCTCATCCTGCCAGGTGAGAGCCCCGGCGGAGGGACCAGGGACCTTTGGAAACCAGCCTGACCTCTGTCCTAGGGACTGACCCAACTGGGACTCCAGGGGCCCCGGTTTCTGACCAAGCTGTGGCACTTTTCACTGGGCATAGTGTTTATCTGCGCCTGTTTCATCAAAATGGGGTCAAAATCCTTGCCCTGCCCACATTCCAGGGGGGAATTCTGGTGGAAGCAGTGCCCATAACTGGTGTGTGTCTTGCCCACCAGTGCACTCCAACATCCCCATGATGGATCAGAAGGCCATATTCCAGCAGCCTCCAGTTGGGGTGCGCAAGATTGTCTTGGCCACCAACATTGCTGAGACTTCCATCACAATCAATGACATCGTGCATGTGGTGGACAGTGGGCTGCACAAGGAAGAACGCTATGACCTGAAGACCAAGGTGGCACCTACCTCCTGGGCCCGGCCAACCACTGGGGGAGGGACTCCGTTTTGAGGTGGTCCCCAGCCCAGATCTACCTTAGACCTGCTTTGTGTGTCTTCAGAAGGCCGCGCTTGTGGGGTCTCAGTGTTCCTGATGTAGGGGGCTGGTGAGGGTTACTCAGGGAGTGGGGAAGCACTGAGGAAGTGGCATTTGTGTGCTGCTTACTTGCCACCTCCTCCAGGTGTCCTGCCTGGAGACAGTGTGGGTATCAAGAGCCAATGTGATCCAGCGCCGGGGCCGGGCGGGCCGCTGCCAGTCCGGCTTTGCCTACCACTTGTTCCCTCGAAGCCGGCTGGAGAAAATGGTCCCTTTCCAAGTGCCAGAGATCCTGCGCACACCTCTTGAGAACCTGGTGCTGCAAGCGAAAATCCACATGCCTGAGAAGACGGTGCGGCGGGGCGGGGCAGGGGCTGGCCTGGGGACCAGGCAGGTGGGAGGCAGGCTCATGGCGGGCTCTGGCTCTGTCATAGGCGGTGGAGTTCCTGTCCAAGGCTGTGGACAGTCCAAACATCAAGGCAGTGGACGAGGCTGTGATCTTGCTCCAGGAGATCGGTATGTAGGGGCTGGGCTGGGCTGGGCTGGGGAGTGGCTCTCGAGGGTGGTACTGACAGCTGAGCCGTTGCAGGGGTGCTGGACCAGCGGGAGTACCTGACTACCCTGGGGCAGCGCCTGGCTCACATCTCCACCGACCCCCGGTTGGCCAAGGCCATTGTGTTGGCTGCCATCTTCCGTTGCCTGCACCCACTACTGGTGGTCGTTTCCTGCCTCACCCGGGACCCCTTCAGCAGCAGCCTACAGAACCGGGC
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Task1_train_6738
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Chromosome 3 houses a mutation in gene DHX30 (DExH-box helicase 30). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Sleep abnormality
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CAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCCAGTGGCTTGTTTGATCAAGTTGCATTATAATCGACATTTACAGGAAATTCCACGTGCATCTGTATATGATGGGGTCACAGATGGGTCGGGTGCCATGTAGGGATTGGGAGGCGGGATGGAAGGATTAGGGGAGGAAGGCTTTGATGAGGCAGCAAAGGAAGAGGGAGTCTGTGGGGTGCGTTCTAGCATCGAGGGCCTGGCCTGGCTGGTCTGAGGGTACATGTTGGGAATTCACAGAGGTGACAGTGGCCTATTGTGGTGTTGGGGGGGCTGTAGCCACACAGTGAGTGGTTTCTCCTCAGGGCCTTCTCCAGACGTAGGGCTGTTCTGCTGTGACACATCAGGTTTAGCTTTTCTTGAATTAACTTTATTATTATTTTCTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCACCGTCATGATCTCGGCTCACTGCAACCTGTGTCTCCAGGGTTCAGGCGATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGACTATAGGTGCCGGCCCCCCACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACCCCTGACCTCAGGTGATTTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAATTAACTTTAGTTCATTTTTTAAAACGTTTATTTTGGTAAGTTAACATTTTCCTAGTTCATAATTTCTCCCTCCATCACCATGTCAGCCAAAATCCAAAATCTCTTAGAGATTACTTGGCACAACTTATGCGTTGGAGCTCCTGAGCTTGTCTGGGCTGGTTTTTGGGGAGCCCCAGAGCATAGACTGAGTCTTGCATGTCCCCCTGCAGAGCCTGGGCCTGGTGGACAGGAACAACGAACCGCTTACACACGCCATGTATAACCTGGCCTCTTTGCGTGAGCTGGGTGAGACCCAGCGCCGACCATGCACCATCCAGGTGCCCGAGCCCATCCTCCGCAAGATAGAGACCTTCCTGAACCATGTAAGAGGCCCTGCATCCCTCACCACCCCTGCTCCCTGTAGTCTGCCTCCATCTCTCCAGACTGAAGGCCTCCACCTGCGACAGGCAGTAGTACCTCCCCATTCTCTTCACTGAGTTTGGGGCCTGGGATCCCCCTGGCCTGAACAGCCCAGTCTTGCCCACAAGGATCCCGGGGCAGTCATGGACTAAATTAATCCTCTGCCCAGCGGGTTGGGCCACAACATCTGACCCAGGCGAATCCTGCAGAGTGGCTGGTTGTGTGTGAATGAGGAATTTCTTTTTCATTGTTTTGCTTGCCTCCCTGCCCTCCAGTACCCTGTGGAGAGTTCATGGATCGCCCCAGAACTCCGGCTGCAGAGTGATGACATCTTGCCCTTGGGCAAGGACTCAGGGCCTCTGAGTGACCCTATCACAGGCAAGCCCTATGTGCCCCTGTTGGAAGCAGAGGAGGTACGTCTCAGCCAGAGTCTGCTAGAACTGTGGCGGCGGCGAGGGCCGGTCTGGCAGGAGGCCCCCCAGCTACCTGTGGACCCACATCGGGACACCATCCTCAACGCCATTGAGCAGCACCCGGTGGTGGTCATCTCTGGGGACACGGGCTGTGGGAAGACCACGCGCATCCCCCAGCTGTTGCTGGAGCGCTATGTGACCGAGGGCCGAGGTGCCCGCTGCAATGTTATCATCACCCAACCTCGCCGCATCTCTGCTGTGTCTGTGGCACAGCGGGTCAGCCACGAACTGGGCCCCTCCCTGCGCCGGAATGTGGGCTTCCAGGTGCGGTTGGAAAGTAAGCCCCCATCCCGAGGCGGGGCCCTGCTCTTCTGCACTGTGGGTATCCTGCTGCGTAAGCTGCAGAGCAACCCCAGCCTGGAGGGCGTGAGCCACGTCATCGTGGATGAGGTGCATGAGCGGGACGTGAACACAGACTTTCTGCTGATCCTGCTCAAGGGCCTGCAGCGGCTCAACCCGGCCCTGCGGCTGGTGCTCATGAGTGCCACAGGGGACAATGAGCGCTTCTCCCGATACTTTGGTGGCTGCCCCGTCATCAAGGTGCCTGGCTTCATGTACCCAGTCAAGGAGCACTACCTAGAGGACATCCTGGCCAAGTTGGGCAAGCACCAGTACCTGCACCGGCACCGGCACCATGAGGTGAGGGACACCCCCATCCCACCCAAGGCTCCTGGCCTTTCCTCCGTGGATGCCCCTCCTCCCTGGCCCTGGGGCTTGGTGCCTGGGGCAAGTTACCCTCCCCAGTCCTCGGTTTCCTTGATAGAAACTGGGGACTAACCCTGCCTGCGTGGCACACGTGAGGATTGGAGTTGATGTCAAGCGGCTCCGTCTCACTGAGTCAGGTGGCTGTGTCCTTGGCATGACCCCTTACCCCGGGGCTGTGACTGTGGCCTCTCTTCCCCCACCCCAGTCTGAGGATGAATGCGCACTCGATTTGGACCTTGTGACTGATCTGGTTCTGCACATCGATGCTCGCGGGGAACCAGGTGGGTGCCTCCCCATCTGTCCCATGCTAGCCCTGGCCACGTTTGCAGCAACAGCTGGCTCATGCCCCAGGGCTCCTTTACAGGTGGGATCCTGTGCTTCCTGCCTGGGTGGCAGGAGATCAAAGGAGTGCAGCAGCGCCTCCAGGAGGCCCTGGGCATGCACGAGAGCAAGTACCTCATCCTGCCAGGTGAGAGCCCCGGCGGAGGGACCAGGGACCTTTGGAAACCAGCCTGACCTCTGTCCTAGGGACTGACCCAACTGGGACTCCAGGGGCCCCGGTTTCTGACCAAGCTGTGGCACTTTTCACTGGGCATAGTGTTTATCTGCGCCTGTTTCATCAAAATGGGGTCAAAATCCTTGCCCTGCCCACATTCCAGGGGGGAATTCTGGTGGAAGCAGTGCCCATAACTGGTGTGTGTCTTGCCCACCAGTGCACTCCAACATCCCCATGATGGATCAGAAGGCCATATTCCAGCAGCCTCCAGTTGGGGTGCGCAAGATTGTCTTGGCCACCAACATTGCTGAGACTTCCATCACAATCAATGACATCGTGCATGTGGTGGACAGTGGGCTGCACAAGGAAGAACGCTATGACCTGAAGACCAAGGTGGCACCTACCTCCTGGGCCCGGCCAACCACTGGGGGAGGGACTCCGTTTTGAGGTGGTCCCCAGCCCAGATCTACCTTAGACCTGCTTTGTGTGTCTTCAGAAGGCCGCGCTTGTGGGGTCTCAGTGTTCCTGATGTAGGGGGCTGGTGAGGGTTACTCAGGGAGTGGGGAAGCACTGAGGAAGTGGCATTTGTGTGCTGCTTACTTGCCACCTCCTCCAGGTGTCCTGCCTGGAGACAGTGTGGGTATCAAGAGCCAATGTGATCCAGCGCCGGGGCCGGGCGGGCCGCTGCCAGTCCGGCTTTGCCTACCACTTGTTCCCTCGAAGCCGGCTGGAGAAAATGGTCCCTTTCCAAGTGCCAGAGATCCTGCGCACACCTCTTGAGAACCTGGTGCTGCAAGCGAAAATCCACATGCCTGAGAAGACGGTGCGGCGGGGCGGGGCAGGGGCTGGCCTGGGGACCAGGCAGGTGGGAGGCAGGCTCATGGCGGGCTCTGGCTCTGTCATAGGCGGTGGAGTTCCTGTCCAAGGCTGTGGACAGTCCAAACATCAAGGCAGTGGACGAGGCTGTGATCTTGCTCCAGGAGATCGGTATGTAGGGGCTGGGCTGGGCTGGGCTGGGGAGTGGCTCTCGAGGGTGGTACTGACAGCTGAGCCGTTGCAGGGGTGCTGGACCAGCGGGAGTACCTGACTACCCTGGGGCAGCGCCTGGCTCACATCTCCACCGACCCCCGGTTGGCCAAGGCCATTGTGTTGGCTGCCATCTTCCGTTGCCTGCACCCACTACTGGTGGTCGTTTCCTGCCTCACCCGGGACCCCTTCAGCAGCAGCCTACAGAACCGGGC
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CAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCCAGTGGCTTGTTTGATCAAGTTGCATTATAATCGACATTTACAGGAAATTCCACGTGCATCTGTATATGATGGGGTCACAGATGGGTCGGGTGCCATGTAGGGATTGGGAGGCGGGATGGAAGGATTAGGGGAGGAAGGCTTTGATGAGGCAGCAAAGGAAGAGGGAGTCTGTGGGGTGCGTTCTAGCATCGAGGGCCTGGCCTGGCTGGTCTGAGGGTACATGTTGGGAATTCACAGAGGTGACAGTGGCCTATTGTGGTGTTGGGGGGGCTGTAGCCACACAGTGAGTGGTTTCTCCTCAGGGCCTTCTCCAGACGTAGGGCTGTTCTGCTGTGACACATCAGGTTTAGCTTTTCTTGAATTAACTTTATTATTATTTTCTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCACCGTCATGATCTCGGCTCACTGCAACCTGTGTCTCCAGGGTTCAGGCGATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGACTATAGGTGCCGGCCCCCCACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACCCCTGACCTCAGGTGATTTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAATTAACTTTAGTTCATTTTTTAAAACGTTTATTTTGGTAAGTTAACATTTTCCTAGTTCATAATTTCTCCCTCCATCACCATGTCAGCCAAAATCCAAAATCTCTTAGAGATTACTTGGCACAACTTATGCGTTGGAGCTCCTGAGCTTGTCTGGGCTGGTTTTTGGGGAGCCCCAGAGCATAGACTGAGTCTTGCATGTCCCCCTGCAGAGCCTGGGCCTGGTGGACAGGAACAACGAACCGCTTACACACGCCATGTATAACCTGGCCTCTTTGCGTGAGCTGGGTGAGACCCAGCGCCGACCATGCACCATCCAGGTGCCCGAGCCCATCCTCCGCAAGATAGAGACCTTCCTGAACCATGTAAGAGGCCCTGCATCCCTCACCACCCCTGCTCCCTGTAGTCTGCCTCCATCTCTCCAGACTGAAGGCCTCCACCTGCGACAGGCAGTAGTACCTCCCCATTCTCTTCACTGAGTTTGGGGCCTGGGATCCCCCTGGCCTGAACAGCCCAGTCTTGCCCACAAGGATCCCGGGGCAGTCATGGACTAAATTAATCCTCTGCCCAGCGGGTTGGGCCACAACATCTGACCCAGGCGAATCCTGCAGAGTGGCTGGTTGTGTGTGAATGAGGAATTTCTTTTTCATTGTTTTGCTTGCCTCCCTGCCCTCCAGTACCCTGTGGAGAGTTCATGGATCGCCCCAGAACTCCGGCTGCAGAGTGATGACATCTTGCCCTTGGGCAAGGACTCAGGGCCTCTGAGTGACCCTATCACAGGCAAGCCCTATGTGCCCCTGTTGGAAGCAGAGGAGGTACGTCTCAGCCAGAGTCTGCTAGAACTGTGGCGGCGGCGAGGGCCGGTCTGGCAGGAGGCCCCCCAGCTACCTGTGGACCCACATCGGGACACCATCCTCAACGCCATTGAGCAGCACCCGGTGGTGGTCATCTCTGGGGACACGGGCTGTGGGAAGACCACGCGCATCCCCCAGCTGTTGCTGGAGCGCTATGTGACCGAGGGCCGAGGTGCCCGCTGCAATGTTATCATCACCCAACCTCGCCGCATCTCTGCTGTGTCTGTGGCACAGCGGGTCAGCCACGAACTGGGCCCCTCCCTGCGCCGGAATGTGGGCTTCCAGGTGCGGTTGGAAAGTAAGCCCCCATCCCGAGGCGGGGCCCTGCTCTTCTGCACTGTGGGTATCCTGCTGCGTAAGCTGCAGAGCAACCCCAGCCTGGAGGGCGTGAGCCACGTCATCGTGGATGAGGTGCGTGAGCGGGACGTGAACACAGACTTTCTGCTGATCCTGCTCAAGGGCCTGCAGCGGCTCAACCCGGCCCTGCGGCTGGTGCTCATGAGTGCCACAGGGGACAATGAGCGCTTCTCCCGATACTTTGGTGGCTGCCCCGTCATCAAGGTGCCTGGCTTCATGTACCCAGTCAAGGAGCACTACCTAGAGGACATCCTGGCCAAGTTGGGCAAGCACCAGTACCTGCACCGGCACCGGCACCATGAGGTGAGGGACACCCCCATCCCACCCAAGGCTCCTGGCCTTTCCTCCGTGGATGCCCCTCCTCCCTGGCCCTGGGGCTTGGTGCCTGGGGCAAGTTACCCTCCCCAGTCCTCGGTTTCCTTGATAGAAACTGGGGACTAACCCTGCCTGCGTGGCACACGTGAGGATTGGAGTTGATGTCAAGCGGCTCCGTCTCACTGAGTCAGGTGGCTGTGTCCTTGGCATGACCCCTTACCCCGGGGCTGTGACTGTGGCCTCTCTTCCCCCACCCCAGTCTGAGGATGAATGCGCACTCGATTTGGACCTTGTGACTGATCTGGTTCTGCACATCGATGCTCGCGGGGAACCAGGTGGGTGCCTCCCCATCTGTCCCATGCTAGCCCTGGCCACGTTTGCAGCAACAGCTGGCTCATGCCCCAGGGCTCCTTTACAGGTGGGATCCTGTGCTTCCTGCCTGGGTGGCAGGAGATCAAAGGAGTGCAGCAGCGCCTCCAGGAGGCCCTGGGCATGCACGAGAGCAAGTACCTCATCCTGCCAGGTGAGAGCCCCGGCGGAGGGACCAGGGACCTTTGGAAACCAGCCTGACCTCTGTCCTAGGGACTGACCCAACTGGGACTCCAGGGGCCCCGGTTTCTGACCAAGCTGTGGCACTTTTCACTGGGCATAGTGTTTATCTGCGCCTGTTTCATCAAAATGGGGTCAAAATCCTTGCCCTGCCCACATTCCAGGGGGGAATTCTGGTGGAAGCAGTGCCCATAACTGGTGTGTGTCTTGCCCACCAGTGCACTCCAACATCCCCATGATGGATCAGAAGGCCATATTCCAGCAGCCTCCAGTTGGGGTGCGCAAGATTGTCTTGGCCACCAACATTGCTGAGACTTCCATCACAATCAATGACATCGTGCATGTGGTGGACAGTGGGCTGCACAAGGAAGAACGCTATGACCTGAAGACCAAGGTGGCACCTACCTCCTGGGCCCGGCCAACCACTGGGGGAGGGACTCCGTTTTGAGGTGGTCCCCAGCCCAGATCTACCTTAGACCTGCTTTGTGTGTCTTCAGAAGGCCGCGCTTGTGGGGTCTCAGTGTTCCTGATGTAGGGGGCTGGTGAGGGTTACTCAGGGAGTGGGGAAGCACTGAGGAAGTGGCATTTGTGTGCTGCTTACTTGCCACCTCCTCCAGGTGTCCTGCCTGGAGACAGTGTGGGTATCAAGAGCCAATGTGATCCAGCGCCGGGGCCGGGCGGGCCGCTGCCAGTCCGGCTTTGCCTACCACTTGTTCCCTCGAAGCCGGCTGGAGAAAATGGTCCCTTTCCAAGTGCCAGAGATCCTGCGCACACCTCTTGAGAACCTGGTGCTGCAAGCGAAAATCCACATGCCTGAGAAGACGGTGCGGCGGGGCGGGGCAGGGGCTGGCCTGGGGACCAGGCAGGTGGGAGGCAGGCTCATGGCGGGCTCTGGCTCTGTCATAGGCGGTGGAGTTCCTGTCCAAGGCTGTGGACAGTCCAAACATCAAGGCAGTGGACGAGGCTGTGATCTTGCTCCAGGAGATCGGTATGTAGGGGCTGGGCTGGGCTGGGCTGGGGAGTGGCTCTCGAGGGTGGTACTGACAGCTGAGCCGTTGCAGGGGTGCTGGACCAGCGGGAGTACCTGACTACCCTGGGGCAGCGCCTGGCTCACATCTCCACCGACCCCCGGTTGGCCAAGGCCATTGTGTTGGCTGCCATCTTCCGTTGCCTGCACCCACTACTGGTGGTCGTTTCCTGCCTCACCCGGGACCCCTTCAGCAGCAGCCTACAGAACCGGGC
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Task1_train_6739
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A genetic alteration is present in DHX30 (DExH-box helicase 30) on Chromosome 3. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Delayed speech and language development
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CAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCCAGTGGCTTGTTTGATCAAGTTGCATTATAATCGACATTTACAGGAAATTCCACGTGCATCTGTATATGATGGGGTCACAGATGGGTCGGGTGCCATGTAGGGATTGGGAGGCGGGATGGAAGGATTAGGGGAGGAAGGCTTTGATGAGGCAGCAAAGGAAGAGGGAGTCTGTGGGGTGCGTTCTAGCATCGAGGGCCTGGCCTGGCTGGTCTGAGGGTACATGTTGGGAATTCACAGAGGTGACAGTGGCCTATTGTGGTGTTGGGGGGGCTGTAGCCACACAGTGAGTGGTTTCTCCTCAGGGCCTTCTCCAGACGTAGGGCTGTTCTGCTGTGACACATCAGGTTTAGCTTTTCTTGAATTAACTTTATTATTATTTTCTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCACCGTCATGATCTCGGCTCACTGCAACCTGTGTCTCCAGGGTTCAGGCGATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGACTATAGGTGCCGGCCCCCCACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACCCCTGACCTCAGGTGATTTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAATTAACTTTAGTTCATTTTTTAAAACGTTTATTTTGGTAAGTTAACATTTTCCTAGTTCATAATTTCTCCCTCCATCACCATGTCAGCCAAAATCCAAAATCTCTTAGAGATTACTTGGCACAACTTATGCGTTGGAGCTCCTGAGCTTGTCTGGGCTGGTTTTTGGGGAGCCCCAGAGCATAGACTGAGTCTTGCATGTCCCCCTGCAGAGCCTGGGCCTGGTGGACAGGAACAACGAACCGCTTACACACGCCATGTATAACCTGGCCTCTTTGCGTGAGCTGGGTGAGACCCAGCGCCGACCATGCACCATCCAGGTGCCCGAGCCCATCCTCCGCAAGATAGAGACCTTCCTGAACCATGTAAGAGGCCCTGCATCCCTCACCACCCCTGCTCCCTGTAGTCTGCCTCCATCTCTCCAGACTGAAGGCCTCCACCTGCGACAGGCAGTAGTACCTCCCCATTCTCTTCACTGAGTTTGGGGCCTGGGATCCCCCTGGCCTGAACAGCCCAGTCTTGCCCACAAGGATCCCGGGGCAGTCATGGACTAAATTAATCCTCTGCCCAGCGGGTTGGGCCACAACATCTGACCCAGGCGAATCCTGCAGAGTGGCTGGTTGTGTGTGAATGAGGAATTTCTTTTTCATTGTTTTGCTTGCCTCCCTGCCCTCCAGTACCCTGTGGAGAGTTCATGGATCGCCCCAGAACTCCGGCTGCAGAGTGATGACATCTTGCCCTTGGGCAAGGACTCAGGGCCTCTGAGTGACCCTATCACAGGCAAGCCCTATGTGCCCCTGTTGGAAGCAGAGGAGGTACGTCTCAGCCAGAGTCTGCTAGAACTGTGGCGGCGGCGAGGGCCGGTCTGGCAGGAGGCCCCCCAGCTACCTGTGGACCCACATCGGGACACCATCCTCAACGCCATTGAGCAGCACCCGGTGGTGGTCATCTCTGGGGACACGGGCTGTGGGAAGACCACGCGCATCCCCCAGCTGTTGCTGGAGCGCTATGTGACCGAGGGCCGAGGTGCCCGCTGCAATGTTATCATCACCCAACCTCGCCGCATCTCTGCTGTGTCTGTGGCACAGCGGGTCAGCCACGAACTGGGCCCCTCCCTGCGCCGGAATGTGGGCTTCCAGGTGCGGTTGGAAAGTAAGCCCCCATCCCGAGGCGGGGCCCTGCTCTTCTGCACTGTGGGTATCCTGCTGCGTAAGCTGCAGAGCAACCCCAGCCTGGAGGGCGTGAGCCACGTCATCGTGGATGAGGTGCATGAGCGGGACGTGAACACAGACTTTCTGCTGATCCTGCTCAAGGGCCTGCAGCGGCTCAACCCGGCCCTGCGGCTGGTGCTCATGAGTGCCACAGGGGACAATGAGCGCTTCTCCCGATACTTTGGTGGCTGCCCCGTCATCAAGGTGCCTGGCTTCATGTACCCAGTCAAGGAGCACTACCTAGAGGACATCCTGGCCAAGTTGGGCAAGCACCAGTACCTGCACCGGCACCGGCACCATGAGGTGAGGGACACCCCCATCCCACCCAAGGCTCCTGGCCTTTCCTCCGTGGATGCCCCTCCTCCCTGGCCCTGGGGCTTGGTGCCTGGGGCAAGTTACCCTCCCCAGTCCTCGGTTTCCTTGATAGAAACTGGGGACTAACCCTGCCTGCGTGGCACACGTGAGGATTGGAGTTGATGTCAAGCGGCTCCGTCTCACTGAGTCAGGTGGCTGTGTCCTTGGCATGACCCCTTACCCCGGGGCTGTGACTGTGGCCTCTCTTCCCCCACCCCAGTCTGAGGATGAATGCGCACTCGATTTGGACCTTGTGACTGATCTGGTTCTGCACATCGATGCTCGCGGGGAACCAGGTGGGTGCCTCCCCATCTGTCCCATGCTAGCCCTGGCCACGTTTGCAGCAACAGCTGGCTCATGCCCCAGGGCTCCTTTACAGGTGGGATCCTGTGCTTCCTGCCTGGGTGGCAGGAGATCAAAGGAGTGCAGCAGCGCCTCCAGGAGGCCCTGGGCATGCACGAGAGCAAGTACCTCATCCTGCCAGGTGAGAGCCCCGGCGGAGGGACCAGGGACCTTTGGAAACCAGCCTGACCTCTGTCCTAGGGACTGACCCAACTGGGACTCCAGGGGCCCCGGTTTCTGACCAAGCTGTGGCACTTTTCACTGGGCATAGTGTTTATCTGCGCCTGTTTCATCAAAATGGGGTCAAAATCCTTGCCCTGCCCACATTCCAGGGGGGAATTCTGGTGGAAGCAGTGCCCATAACTGGTGTGTGTCTTGCCCACCAGTGCACTCCAACATCCCCATGATGGATCAGAAGGCCATATTCCAGCAGCCTCCAGTTGGGGTGCGCAAGATTGTCTTGGCCACCAACATTGCTGAGACTTCCATCACAATCAATGACATCGTGCATGTGGTGGACAGTGGGCTGCACAAGGAAGAACGCTATGACCTGAAGACCAAGGTGGCACCTACCTCCTGGGCCCGGCCAACCACTGGGGGAGGGACTCCGTTTTGAGGTGGTCCCCAGCCCAGATCTACCTTAGACCTGCTTTGTGTGTCTTCAGAAGGCCGCGCTTGTGGGGTCTCAGTGTTCCTGATGTAGGGGGCTGGTGAGGGTTACTCAGGGAGTGGGGAAGCACTGAGGAAGTGGCATTTGTGTGCTGCTTACTTGCCACCTCCTCCAGGTGTCCTGCCTGGAGACAGTGTGGGTATCAAGAGCCAATGTGATCCAGCGCCGGGGCCGGGCGGGCCGCTGCCAGTCCGGCTTTGCCTACCACTTGTTCCCTCGAAGCCGGCTGGAGAAAATGGTCCCTTTCCAAGTGCCAGAGATCCTGCGCACACCTCTTGAGAACCTGGTGCTGCAAGCGAAAATCCACATGCCTGAGAAGACGGTGCGGCGGGGCGGGGCAGGGGCTGGCCTGGGGACCAGGCAGGTGGGAGGCAGGCTCATGGCGGGCTCTGGCTCTGTCATAGGCGGTGGAGTTCCTGTCCAAGGCTGTGGACAGTCCAAACATCAAGGCAGTGGACGAGGCTGTGATCTTGCTCCAGGAGATCGGTATGTAGGGGCTGGGCTGGGCTGGGCTGGGGAGTGGCTCTCGAGGGTGGTACTGACAGCTGAGCCGTTGCAGGGGTGCTGGACCAGCGGGAGTACCTGACTACCCTGGGGCAGCGCCTGGCTCACATCTCCACCGACCCCCGGTTGGCCAAGGCCATTGTGTTGGCTGCCATCTTCCGTTGCCTGCACCCACTACTGGTGGTCGTTTCCTGCCTCACCCGGGACCCCTTCAGCAGCAGCCTACAGAACCGGGC
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CAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCCAGTGGCTTGTTTGATCAAGTTGCATTATAATCGACATTTACAGGAAATTCCACGTGCATCTGTATATGATGGGGTCACAGATGGGTCGGGTGCCATGTAGGGATTGGGAGGCGGGATGGAAGGATTAGGGGAGGAAGGCTTTGATGAGGCAGCAAAGGAAGAGGGAGTCTGTGGGGTGCGTTCTAGCATCGAGGGCCTGGCCTGGCTGGTCTGAGGGTACATGTTGGGAATTCACAGAGGTGACAGTGGCCTATTGTGGTGTTGGGGGGGCTGTAGCCACACAGTGAGTGGTTTCTCCTCAGGGCCTTCTCCAGACGTAGGGCTGTTCTGCTGTGACACATCAGGTTTAGCTTTTCTTGAATTAACTTTATTATTATTTTCTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCACCGTCATGATCTCGGCTCACTGCAACCTGTGTCTCCAGGGTTCAGGCGATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGACTATAGGTGCCGGCCCCCCACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACCCCTGACCTCAGGTGATTTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAATTAACTTTAGTTCATTTTTTAAAACGTTTATTTTGGTAAGTTAACATTTTCCTAGTTCATAATTTCTCCCTCCATCACCATGTCAGCCAAAATCCAAAATCTCTTAGAGATTACTTGGCACAACTTATGCGTTGGAGCTCCTGAGCTTGTCTGGGCTGGTTTTTGGGGAGCCCCAGAGCATAGACTGAGTCTTGCATGTCCCCCTGCAGAGCCTGGGCCTGGTGGACAGGAACAACGAACCGCTTACACACGCCATGTATAACCTGGCCTCTTTGCGTGAGCTGGGTGAGACCCAGCGCCGACCATGCACCATCCAGGTGCCCGAGCCCATCCTCCGCAAGATAGAGACCTTCCTGAACCATGTAAGAGGCCCTGCATCCCTCACCACCCCTGCTCCCTGTAGTCTGCCTCCATCTCTCCAGACTGAAGGCCTCCACCTGCGACAGGCAGTAGTACCTCCCCATTCTCTTCACTGAGTTTGGGGCCTGGGATCCCCCTGGCCTGAACAGCCCAGTCTTGCCCACAAGGATCCCGGGGCAGTCATGGACTAAATTAATCCTCTGCCCAGCGGGTTGGGCCACAACATCTGACCCAGGCGAATCCTGCAGAGTGGCTGGTTGTGTGTGAATGAGGAATTTCTTTTTCATTGTTTTGCTTGCCTCCCTGCCCTCCAGTACCCTGTGGAGAGTTCATGGATCGCCCCAGAACTCCGGCTGCAGAGTGATGACATCTTGCCCTTGGGCAAGGACTCAGGGCCTCTGAGTGACCCTATCACAGGCAAGCCCTATGTGCCCCTGTTGGAAGCAGAGGAGGTACGTCTCAGCCAGAGTCTGCTAGAACTGTGGCGGCGGCGAGGGCCGGTCTGGCAGGAGGCCCCCCAGCTACCTGTGGACCCACATCGGGACACCATCCTCAACGCCATTGAGCAGCACCCGGTGGTGGTCATCTCTGGGGACACGGGCTGTGGGAAGACCACGCGCATCCCCCAGCTGTTGCTGGAGCGCTATGTGACCGAGGGCCGAGGTGCCCGCTGCAATGTTATCATCACCCAACCTCGCCGCATCTCTGCTGTGTCTGTGGCACAGCGGGTCAGCCACGAACTGGGCCCCTCCCTGCGCCGGAATGTGGGCTTCCAGGTGCGGTTGGAAAGTAAGCCCCCATCCCGAGGCGGGGCCCTGCTCTTCTGCACTGTGGGTATCCTGCTGCGTAAGCTGCAGAGCAACCCCAGCCTGGAGGGCGTGAGCCACGTCATCGTGGATGAGGTGCGTGAGCGGGACGTGAACACAGACTTTCTGCTGATCCTGCTCAAGGGCCTGCAGCGGCTCAACCCGGCCCTGCGGCTGGTGCTCATGAGTGCCACAGGGGACAATGAGCGCTTCTCCCGATACTTTGGTGGCTGCCCCGTCATCAAGGTGCCTGGCTTCATGTACCCAGTCAAGGAGCACTACCTAGAGGACATCCTGGCCAAGTTGGGCAAGCACCAGTACCTGCACCGGCACCGGCACCATGAGGTGAGGGACACCCCCATCCCACCCAAGGCTCCTGGCCTTTCCTCCGTGGATGCCCCTCCTCCCTGGCCCTGGGGCTTGGTGCCTGGGGCAAGTTACCCTCCCCAGTCCTCGGTTTCCTTGATAGAAACTGGGGACTAACCCTGCCTGCGTGGCACACGTGAGGATTGGAGTTGATGTCAAGCGGCTCCGTCTCACTGAGTCAGGTGGCTGTGTCCTTGGCATGACCCCTTACCCCGGGGCTGTGACTGTGGCCTCTCTTCCCCCACCCCAGTCTGAGGATGAATGCGCACTCGATTTGGACCTTGTGACTGATCTGGTTCTGCACATCGATGCTCGCGGGGAACCAGGTGGGTGCCTCCCCATCTGTCCCATGCTAGCCCTGGCCACGTTTGCAGCAACAGCTGGCTCATGCCCCAGGGCTCCTTTACAGGTGGGATCCTGTGCTTCCTGCCTGGGTGGCAGGAGATCAAAGGAGTGCAGCAGCGCCTCCAGGAGGCCCTGGGCATGCACGAGAGCAAGTACCTCATCCTGCCAGGTGAGAGCCCCGGCGGAGGGACCAGGGACCTTTGGAAACCAGCCTGACCTCTGTCCTAGGGACTGACCCAACTGGGACTCCAGGGGCCCCGGTTTCTGACCAAGCTGTGGCACTTTTCACTGGGCATAGTGTTTATCTGCGCCTGTTTCATCAAAATGGGGTCAAAATCCTTGCCCTGCCCACATTCCAGGGGGGAATTCTGGTGGAAGCAGTGCCCATAACTGGTGTGTGTCTTGCCCACCAGTGCACTCCAACATCCCCATGATGGATCAGAAGGCCATATTCCAGCAGCCTCCAGTTGGGGTGCGCAAGATTGTCTTGGCCACCAACATTGCTGAGACTTCCATCACAATCAATGACATCGTGCATGTGGTGGACAGTGGGCTGCACAAGGAAGAACGCTATGACCTGAAGACCAAGGTGGCACCTACCTCCTGGGCCCGGCCAACCACTGGGGGAGGGACTCCGTTTTGAGGTGGTCCCCAGCCCAGATCTACCTTAGACCTGCTTTGTGTGTCTTCAGAAGGCCGCGCTTGTGGGGTCTCAGTGTTCCTGATGTAGGGGGCTGGTGAGGGTTACTCAGGGAGTGGGGAAGCACTGAGGAAGTGGCATTTGTGTGCTGCTTACTTGCCACCTCCTCCAGGTGTCCTGCCTGGAGACAGTGTGGGTATCAAGAGCCAATGTGATCCAGCGCCGGGGCCGGGCGGGCCGCTGCCAGTCCGGCTTTGCCTACCACTTGTTCCCTCGAAGCCGGCTGGAGAAAATGGTCCCTTTCCAAGTGCCAGAGATCCTGCGCACACCTCTTGAGAACCTGGTGCTGCAAGCGAAAATCCACATGCCTGAGAAGACGGTGCGGCGGGGCGGGGCAGGGGCTGGCCTGGGGACCAGGCAGGTGGGAGGCAGGCTCATGGCGGGCTCTGGCTCTGTCATAGGCGGTGGAGTTCCTGTCCAAGGCTGTGGACAGTCCAAACATCAAGGCAGTGGACGAGGCTGTGATCTTGCTCCAGGAGATCGGTATGTAGGGGCTGGGCTGGGCTGGGCTGGGGAGTGGCTCTCGAGGGTGGTACTGACAGCTGAGCCGTTGCAGGGGTGCTGGACCAGCGGGAGTACCTGACTACCCTGGGGCAGCGCCTGGCTCACATCTCCACCGACCCCCGGTTGGCCAAGGCCATTGTGTTGGCTGCCATCTTCCGTTGCCTGCACCCACTACTGGTGGTCGTTTCCTGCCTCACCCGGGACCCCTTCAGCAGCAGCCTACAGAACCGGGC
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Task1_train_6740
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A mutation in DHX30 (DExH-box helicase 30), located on Chromosome 3, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Microcephaly
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CAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCCAGTGGCTTGTTTGATCAAGTTGCATTATAATCGACATTTACAGGAAATTCCACGTGCATCTGTATATGATGGGGTCACAGATGGGTCGGGTGCCATGTAGGGATTGGGAGGCGGGATGGAAGGATTAGGGGAGGAAGGCTTTGATGAGGCAGCAAAGGAAGAGGGAGTCTGTGGGGTGCGTTCTAGCATCGAGGGCCTGGCCTGGCTGGTCTGAGGGTACATGTTGGGAATTCACAGAGGTGACAGTGGCCTATTGTGGTGTTGGGGGGGCTGTAGCCACACAGTGAGTGGTTTCTCCTCAGGGCCTTCTCCAGACGTAGGGCTGTTCTGCTGTGACACATCAGGTTTAGCTTTTCTTGAATTAACTTTATTATTATTTTCTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCACCGTCATGATCTCGGCTCACTGCAACCTGTGTCTCCAGGGTTCAGGCGATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGACTATAGGTGCCGGCCCCCCACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACCCCTGACCTCAGGTGATTTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAATTAACTTTAGTTCATTTTTTAAAACGTTTATTTTGGTAAGTTAACATTTTCCTAGTTCATAATTTCTCCCTCCATCACCATGTCAGCCAAAATCCAAAATCTCTTAGAGATTACTTGGCACAACTTATGCGTTGGAGCTCCTGAGCTTGTCTGGGCTGGTTTTTGGGGAGCCCCAGAGCATAGACTGAGTCTTGCATGTCCCCCTGCAGAGCCTGGGCCTGGTGGACAGGAACAACGAACCGCTTACACACGCCATGTATAACCTGGCCTCTTTGCGTGAGCTGGGTGAGACCCAGCGCCGACCATGCACCATCCAGGTGCCCGAGCCCATCCTCCGCAAGATAGAGACCTTCCTGAACCATGTAAGAGGCCCTGCATCCCTCACCACCCCTGCTCCCTGTAGTCTGCCTCCATCTCTCCAGACTGAAGGCCTCCACCTGCGACAGGCAGTAGTACCTCCCCATTCTCTTCACTGAGTTTGGGGCCTGGGATCCCCCTGGCCTGAACAGCCCAGTCTTGCCCACAAGGATCCCGGGGCAGTCATGGACTAAATTAATCCTCTGCCCAGCGGGTTGGGCCACAACATCTGACCCAGGCGAATCCTGCAGAGTGGCTGGTTGTGTGTGAATGAGGAATTTCTTTTTCATTGTTTTGCTTGCCTCCCTGCCCTCCAGTACCCTGTGGAGAGTTCATGGATCGCCCCAGAACTCCGGCTGCAGAGTGATGACATCTTGCCCTTGGGCAAGGACTCAGGGCCTCTGAGTGACCCTATCACAGGCAAGCCCTATGTGCCCCTGTTGGAAGCAGAGGAGGTACGTCTCAGCCAGAGTCTGCTAGAACTGTGGCGGCGGCGAGGGCCGGTCTGGCAGGAGGCCCCCCAGCTACCTGTGGACCCACATCGGGACACCATCCTCAACGCCATTGAGCAGCACCCGGTGGTGGTCATCTCTGGGGACACGGGCTGTGGGAAGACCACGCGCATCCCCCAGCTGTTGCTGGAGCGCTATGTGACCGAGGGCCGAGGTGCCCGCTGCAATGTTATCATCACCCAACCTCGCCGCATCTCTGCTGTGTCTGTGGCACAGCGGGTCAGCCACGAACTGGGCCCCTCCCTGCGCCGGAATGTGGGCTTCCAGGTGCGGTTGGAAAGTAAGCCCCCATCCCGAGGCGGGGCCCTGCTCTTCTGCACTGTGGGTATCCTGCTGCGTAAGCTGCAGAGCAACCCCAGCCTGGAGGGCGTGAGCCACGTCATCGTGGATGAGGTGCATGAGCGGGACGTGAACACAGACTTTCTGCTGATCCTGCTCAAGGGCCTGCAGCGGCTCAACCCGGCCCTGCGGCTGGTGCTCATGAGTGCCACAGGGGACAATGAGCGCTTCTCCCGATACTTTGGTGGCTGCCCCGTCATCAAGGTGCCTGGCTTCATGTACCCAGTCAAGGAGCACTACCTAGAGGACATCCTGGCCAAGTTGGGCAAGCACCAGTACCTGCACCGGCACCGGCACCATGAGGTGAGGGACACCCCCATCCCACCCAAGGCTCCTGGCCTTTCCTCCGTGGATGCCCCTCCTCCCTGGCCCTGGGGCTTGGTGCCTGGGGCAAGTTACCCTCCCCAGTCCTCGGTTTCCTTGATAGAAACTGGGGACTAACCCTGCCTGCGTGGCACACGTGAGGATTGGAGTTGATGTCAAGCGGCTCCGTCTCACTGAGTCAGGTGGCTGTGTCCTTGGCATGACCCCTTACCCCGGGGCTGTGACTGTGGCCTCTCTTCCCCCACCCCAGTCTGAGGATGAATGCGCACTCGATTTGGACCTTGTGACTGATCTGGTTCTGCACATCGATGCTCGCGGGGAACCAGGTGGGTGCCTCCCCATCTGTCCCATGCTAGCCCTGGCCACGTTTGCAGCAACAGCTGGCTCATGCCCCAGGGCTCCTTTACAGGTGGGATCCTGTGCTTCCTGCCTGGGTGGCAGGAGATCAAAGGAGTGCAGCAGCGCCTCCAGGAGGCCCTGGGCATGCACGAGAGCAAGTACCTCATCCTGCCAGGTGAGAGCCCCGGCGGAGGGACCAGGGACCTTTGGAAACCAGCCTGACCTCTGTCCTAGGGACTGACCCAACTGGGACTCCAGGGGCCCCGGTTTCTGACCAAGCTGTGGCACTTTTCACTGGGCATAGTGTTTATCTGCGCCTGTTTCATCAAAATGGGGTCAAAATCCTTGCCCTGCCCACATTCCAGGGGGGAATTCTGGTGGAAGCAGTGCCCATAACTGGTGTGTGTCTTGCCCACCAGTGCACTCCAACATCCCCATGATGGATCAGAAGGCCATATTCCAGCAGCCTCCAGTTGGGGTGCGCAAGATTGTCTTGGCCACCAACATTGCTGAGACTTCCATCACAATCAATGACATCGTGCATGTGGTGGACAGTGGGCTGCACAAGGAAGAACGCTATGACCTGAAGACCAAGGTGGCACCTACCTCCTGGGCCCGGCCAACCACTGGGGGAGGGACTCCGTTTTGAGGTGGTCCCCAGCCCAGATCTACCTTAGACCTGCTTTGTGTGTCTTCAGAAGGCCGCGCTTGTGGGGTCTCAGTGTTCCTGATGTAGGGGGCTGGTGAGGGTTACTCAGGGAGTGGGGAAGCACTGAGGAAGTGGCATTTGTGTGCTGCTTACTTGCCACCTCCTCCAGGTGTCCTGCCTGGAGACAGTGTGGGTATCAAGAGCCAATGTGATCCAGCGCCGGGGCCGGGCGGGCCGCTGCCAGTCCGGCTTTGCCTACCACTTGTTCCCTCGAAGCCGGCTGGAGAAAATGGTCCCTTTCCAAGTGCCAGAGATCCTGCGCACACCTCTTGAGAACCTGGTGCTGCAAGCGAAAATCCACATGCCTGAGAAGACGGTGCGGCGGGGCGGGGCAGGGGCTGGCCTGGGGACCAGGCAGGTGGGAGGCAGGCTCATGGCGGGCTCTGGCTCTGTCATAGGCGGTGGAGTTCCTGTCCAAGGCTGTGGACAGTCCAAACATCAAGGCAGTGGACGAGGCTGTGATCTTGCTCCAGGAGATCGGTATGTAGGGGCTGGGCTGGGCTGGGCTGGGGAGTGGCTCTCGAGGGTGGTACTGACAGCTGAGCCGTTGCAGGGGTGCTGGACCAGCGGGAGTACCTGACTACCCTGGGGCAGCGCCTGGCTCACATCTCCACCGACCCCCGGTTGGCCAAGGCCATTGTGTTGGCTGCCATCTTCCGTTGCCTGCACCCACTACTGGTGGTCGTTTCCTGCCTCACCCGGGACCCCTTCAGCAGCAGCCTACAGAACCGGGC
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CAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCCAGTGGCTTGTTTGATCAAGTTGCATTATAATCGACATTTACAGGAAATTCCACGTGCATCTGTATATGATGGGGTCACAGATGGGTCGGGTGCCATGTAGGGATTGGGAGGCGGGATGGAAGGATTAGGGGAGGAAGGCTTTGATGAGGCAGCAAAGGAAGAGGGAGTCTGTGGGGTGCGTTCTAGCATCGAGGGCCTGGCCTGGCTGGTCTGAGGGTACATGTTGGGAATTCACAGAGGTGACAGTGGCCTATTGTGGTGTTGGGGGGGCTGTAGCCACACAGTGAGTGGTTTCTCCTCAGGGCCTTCTCCAGACGTAGGGCTGTTCTGCTGTGACACATCAGGTTTAGCTTTTCTTGAATTAACTTTATTATTATTTTCTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCACCGTCATGATCTCGGCTCACTGCAACCTGTGTCTCCAGGGTTCAGGCGATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGACTATAGGTGCCGGCCCCCCACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACCCCTGACCTCAGGTGATTTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAATTAACTTTAGTTCATTTTTTAAAACGTTTATTTTGGTAAGTTAACATTTTCCTAGTTCATAATTTCTCCCTCCATCACCATGTCAGCCAAAATCCAAAATCTCTTAGAGATTACTTGGCACAACTTATGCGTTGGAGCTCCTGAGCTTGTCTGGGCTGGTTTTTGGGGAGCCCCAGAGCATAGACTGAGTCTTGCATGTCCCCCTGCAGAGCCTGGGCCTGGTGGACAGGAACAACGAACCGCTTACACACGCCATGTATAACCTGGCCTCTTTGCGTGAGCTGGGTGAGACCCAGCGCCGACCATGCACCATCCAGGTGCCCGAGCCCATCCTCCGCAAGATAGAGACCTTCCTGAACCATGTAAGAGGCCCTGCATCCCTCACCACCCCTGCTCCCTGTAGTCTGCCTCCATCTCTCCAGACTGAAGGCCTCCACCTGCGACAGGCAGTAGTACCTCCCCATTCTCTTCACTGAGTTTGGGGCCTGGGATCCCCCTGGCCTGAACAGCCCAGTCTTGCCCACAAGGATCCCGGGGCAGTCATGGACTAAATTAATCCTCTGCCCAGCGGGTTGGGCCACAACATCTGACCCAGGCGAATCCTGCAGAGTGGCTGGTTGTGTGTGAATGAGGAATTTCTTTTTCATTGTTTTGCTTGCCTCCCTGCCCTCCAGTACCCTGTGGAGAGTTCATGGATCGCCCCAGAACTCCGGCTGCAGAGTGATGACATCTTGCCCTTGGGCAAGGACTCAGGGCCTCTGAGTGACCCTATCACAGGCAAGCCCTATGTGCCCCTGTTGGAAGCAGAGGAGGTACGTCTCAGCCAGAGTCTGCTAGAACTGTGGCGGCGGCGAGGGCCGGTCTGGCAGGAGGCCCCCCAGCTACCTGTGGACCCACATCGGGACACCATCCTCAACGCCATTGAGCAGCACCCGGTGGTGGTCATCTCTGGGGACACGGGCTGTGGGAAGACCACGCGCATCCCCCAGCTGTTGCTGGAGCGCTATGTGACCGAGGGCCGAGGTGCCCGCTGCAATGTTATCATCACCCAACCTCGCCGCATCTCTGCTGTGTCTGTGGCACAGCGGGTCAGCCACGAACTGGGCCCCTCCCTGCGCCGGAATGTGGGCTTCCAGGTGCGGTTGGAAAGTAAGCCCCCATCCCGAGGCGGGGCCCTGCTCTTCTGCACTGTGGGTATCCTGCTGCGTAAGCTGCAGAGCAACCCCAGCCTGGAGGGCGTGAGCCACGTCATCGTGGATGAGGTGCGTGAGCGGGACGTGAACACAGACTTTCTGCTGATCCTGCTCAAGGGCCTGCAGCGGCTCAACCCGGCCCTGCGGCTGGTGCTCATGAGTGCCACAGGGGACAATGAGCGCTTCTCCCGATACTTTGGTGGCTGCCCCGTCATCAAGGTGCCTGGCTTCATGTACCCAGTCAAGGAGCACTACCTAGAGGACATCCTGGCCAAGTTGGGCAAGCACCAGTACCTGCACCGGCACCGGCACCATGAGGTGAGGGACACCCCCATCCCACCCAAGGCTCCTGGCCTTTCCTCCGTGGATGCCCCTCCTCCCTGGCCCTGGGGCTTGGTGCCTGGGGCAAGTTACCCTCCCCAGTCCTCGGTTTCCTTGATAGAAACTGGGGACTAACCCTGCCTGCGTGGCACACGTGAGGATTGGAGTTGATGTCAAGCGGCTCCGTCTCACTGAGTCAGGTGGCTGTGTCCTTGGCATGACCCCTTACCCCGGGGCTGTGACTGTGGCCTCTCTTCCCCCACCCCAGTCTGAGGATGAATGCGCACTCGATTTGGACCTTGTGACTGATCTGGTTCTGCACATCGATGCTCGCGGGGAACCAGGTGGGTGCCTCCCCATCTGTCCCATGCTAGCCCTGGCCACGTTTGCAGCAACAGCTGGCTCATGCCCCAGGGCTCCTTTACAGGTGGGATCCTGTGCTTCCTGCCTGGGTGGCAGGAGATCAAAGGAGTGCAGCAGCGCCTCCAGGAGGCCCTGGGCATGCACGAGAGCAAGTACCTCATCCTGCCAGGTGAGAGCCCCGGCGGAGGGACCAGGGACCTTTGGAAACCAGCCTGACCTCTGTCCTAGGGACTGACCCAACTGGGACTCCAGGGGCCCCGGTTTCTGACCAAGCTGTGGCACTTTTCACTGGGCATAGTGTTTATCTGCGCCTGTTTCATCAAAATGGGGTCAAAATCCTTGCCCTGCCCACATTCCAGGGGGGAATTCTGGTGGAAGCAGTGCCCATAACTGGTGTGTGTCTTGCCCACCAGTGCACTCCAACATCCCCATGATGGATCAGAAGGCCATATTCCAGCAGCCTCCAGTTGGGGTGCGCAAGATTGTCTTGGCCACCAACATTGCTGAGACTTCCATCACAATCAATGACATCGTGCATGTGGTGGACAGTGGGCTGCACAAGGAAGAACGCTATGACCTGAAGACCAAGGTGGCACCTACCTCCTGGGCCCGGCCAACCACTGGGGGAGGGACTCCGTTTTGAGGTGGTCCCCAGCCCAGATCTACCTTAGACCTGCTTTGTGTGTCTTCAGAAGGCCGCGCTTGTGGGGTCTCAGTGTTCCTGATGTAGGGGGCTGGTGAGGGTTACTCAGGGAGTGGGGAAGCACTGAGGAAGTGGCATTTGTGTGCTGCTTACTTGCCACCTCCTCCAGGTGTCCTGCCTGGAGACAGTGTGGGTATCAAGAGCCAATGTGATCCAGCGCCGGGGCCGGGCGGGCCGCTGCCAGTCCGGCTTTGCCTACCACTTGTTCCCTCGAAGCCGGCTGGAGAAAATGGTCCCTTTCCAAGTGCCAGAGATCCTGCGCACACCTCTTGAGAACCTGGTGCTGCAAGCGAAAATCCACATGCCTGAGAAGACGGTGCGGCGGGGCGGGGCAGGGGCTGGCCTGGGGACCAGGCAGGTGGGAGGCAGGCTCATGGCGGGCTCTGGCTCTGTCATAGGCGGTGGAGTTCCTGTCCAAGGCTGTGGACAGTCCAAACATCAAGGCAGTGGACGAGGCTGTGATCTTGCTCCAGGAGATCGGTATGTAGGGGCTGGGCTGGGCTGGGCTGGGGAGTGGCTCTCGAGGGTGGTACTGACAGCTGAGCCGTTGCAGGGGTGCTGGACCAGCGGGAGTACCTGACTACCCTGGGGCAGCGCCTGGCTCACATCTCCACCGACCCCCGGTTGGCCAAGGCCATTGTGTTGGCTGCCATCTTCCGTTGCCTGCACCCACTACTGGTGGTCGTTTCCTGCCTCACCCGGGACCCCTTCAGCAGCAGCCTACAGAACCGGGC
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Task1_train_6741
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Located on Chromosome 3, this mutation impacts DHX30 (DExH-box helicase 30). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Neurodevelopmental disorder with severe motor impairment and absent language
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TCGCCCCAGAACTCCGGCTGCAGAGTGATGACATCTTGCCCTTGGGCAAGGACTCAGGGCCTCTGAGTGACCCTATCACAGGCAAGCCCTATGTGCCCCTGTTGGAAGCAGAGGAGGTACGTCTCAGCCAGAGTCTGCTAGAACTGTGGCGGCGGCGAGGGCCGGTCTGGCAGGAGGCCCCCCAGCTACCTGTGGACCCACATCGGGACACCATCCTCAACGCCATTGAGCAGCACCCGGTGGTGGTCATCTCTGGGGACACGGGCTGTGGGAAGACCACGCGCATCCCCCAGCTGTTGCTGGAGCGCTATGTGACCGAGGGCCGAGGTGCCCGCTGCAATGTTATCATCACCCAACCTCGCCGCATCTCTGCTGTGTCTGTGGCACAGCGGGTCAGCCACGAACTGGGCCCCTCCCTGCGCCGGAATGTGGGCTTCCAGGTGCGGTTGGAAAGTAAGCCCCCATCCCGAGGCGGGGCCCTGCTCTTCTGCACTGTGGGTATCCTGCTGCGTAAGCTGCAGAGCAACCCCAGCCTGGAGGGCGTGAGCCACGTCATCGTGGATGAGGTGCATGAGCGGGACGTGAACACAGACTTTCTGCTGATCCTGCTCAAGGGCCTGCAGCGGCTCAACCCGGCCCTGCGGCTGGTGCTCATGAGTGCCACAGGGGACAATGAGCGCTTCTCCCGATACTTTGGTGGCTGCCCCGTCATCAAGGTGCCTGGCTTCATGTACCCAGTCAAGGAGCACTACCTAGAGGACATCCTGGCCAAGTTGGGCAAGCACCAGTACCTGCACCGGCACCGGCACCATGAGGTGAGGGACACCCCCATCCCACCCAAGGCTCCTGGCCTTTCCTCCGTGGATGCCCCTCCTCCCTGGCCCTGGGGCTTGGTGCCTGGGGCAAGTTACCCTCCCCAGTCCTCGGTTTCCTTGATAGAAACTGGGGACTAACCCTGCCTGCGTGGCACACGTGAGGATTGGAGTTGATGTCAAGCGGCTCCGTCTCACTGAGTCAGGTGGCTGTGTCCTTGGCATGACCCCTTACCCCGGGGCTGTGACTGTGGCCTCTCTTCCCCCACCCCAGTCTGAGGATGAATGCGCACTCGATTTGGACCTTGTGACTGATCTGGTTCTGCACATCGATGCTCGCGGGGAACCAGGTGGGTGCCTCCCCATCTGTCCCATGCTAGCCCTGGCCACGTTTGCAGCAACAGCTGGCTCATGCCCCAGGGCTCCTTTACAGGTGGGATCCTGTGCTTCCTGCCTGGGTGGCAGGAGATCAAAGGAGTGCAGCAGCGCCTCCAGGAGGCCCTGGGCATGCACGAGAGCAAGTACCTCATCCTGCCAGGTGAGAGCCCCGGCGGAGGGACCAGGGACCTTTGGAAACCAGCCTGACCTCTGTCCTAGGGACTGACCCAACTGGGACTCCAGGGGCCCCGGTTTCTGACCAAGCTGTGGCACTTTTCACTGGGCATAGTGTTTATCTGCGCCTGTTTCATCAAAATGGGGTCAAAATCCTTGCCCTGCCCACATTCCAGGGGGGAATTCTGGTGGAAGCAGTGCCCATAACTGGTGTGTGTCTTGCCCACCAGTGCACTCCAACATCCCCATGATGGATCAGAAGGCCATATTCCAGCAGCCTCCAGTTGGGGTGCGCAAGATTGTCTTGGCCACCAACATTGCTGAGACTTCCATCACAATCAATGACATCGTGCATGTGGTGGACAGTGGGCTGCACAAGGAAGAACGCTATGACCTGAAGACCAAGGTGGCACCTACCTCCTGGGCCCGGCCAACCACTGGGGGAGGGACTCCGTTTTGAGGTGGTCCCCAGCCCAGATCTACCTTAGACCTGCTTTGTGTGTCTTCAGAAGGCCGCGCTTGTGGGGTCTCAGTGTTCCTGATGTAGGGGGCTGGTGAGGGTTACTCAGGGAGTGGGGAAGCACTGAGGAAGTGGCATTTGTGTGCTGCTTACTTGCCACCTCCTCCAGGTGTCCTGCCTGGAGACAGTGTGGGTATCAAGAGCCAATGTGATCCAGCGCCGGGGCCGGGCGGGCCGCTGCCAGTCCGGCTTTGCCTACCACTTGTTCCCTCGAAGCCGGCTGGAGAAAATGGTCCCTTTCCAAGTGCCAGAGATCCTGCGCACACCTCTTGAGAACCTGGTGCTGCAAGCGAAAATCCACATGCCTGAGAAGACGGTGCGGCGGGGCGGGGCAGGGGCTGGCCTGGGGACCAGGCAGGTGGGAGGCAGGCTCATGGCGGGCTCTGGCTCTGTCATAGGCGGTGGAGTTCCTGTCCAAGGCTGTGGACAGTCCAAACATCAAGGCAGTGGACGAGGCTGTGATCTTGCTCCAGGAGATCGGTATGTAGGGGCTGGGCTGGGCTGGGCTGGGGAGTGGCTCTCGAGGGTGGTACTGACAGCTGAGCCGTTGCAGGGGTGCTGGACCAGCGGGAGTACCTGACTACCCTGGGGCAGCGCCTGGCTCACATCTCCACCGACCCCCGGTTGGCCAAGGCCATTGTGTTGGCTGCCATCTTCCGTTGCCTGCACCCACTACTGGTGGTCGTTTCCTGCCTCACCCGGGACCCCTTCAGCAGCAGCCTACAGAACCGGGCAGAGGTGGACAAGGTCAGTCCTGGCTCCTTCCTGGAGCCGTCCACCCACTGCTGTTCTGAGGGGGCGTTGTCTAGCCCCTGCCTGTGATCCGGCTGCCCTCTTCTCCCCTCCCAGGTGAAAGCACTGTTGAGCCATGACAGCGGCAGTGACCACCTGGCCTTTGTGCGGGCTGTCGCCGGCTGGGAGGAGGTGCTGCGTTGGCAGGACCGCAGCTCCCGGGAGAATTACCTGGAGGAAAACCTGCTGTACGCACCCAGCCTGCGCTTCATCCACGGTCAGTCGGGCCCACACCTGCTCTCCTGAGCCCCTCCCACCCCCACTGAGTTTCTGTCACCTCCAGCCTGTGGCTAGGGGCTGTAGGTCCACCACACATTCTGTCTCCCTAGGACTCATCAAGCAGTTCTCAGAGAACATTTATGAGGCCTTCCTGGTGGGGAAGCCCTCGGACTGCACCCTGGCCTCCGCCCAGTGCAACGAGTACAGTGAGGAGGAGGAGCTGGTGAAGGGCGTGCTGATGGCCGGCCTCTACCCCAACCTCATCCAGGTGCTGCCTCTGGGAGGGAATGGAGTTCACCAGGTCCCAGCCTCCTTCCCTGTCTGCAGCTCCTTGCTCAGCCCCACCCGTCTTTTCCTCCATCCCTGCAGGTGAGGCAGGGCAAGGTCACCCGGCAGGGGAAGTTCAAGCCCAACAGCGTCACATATAGGACCAAATCAGGCAACATCCTGCTGCACAAGTCGACCATTAACAGGTGAGGGCATGCAGGCCTGGATGGGGCAGCTGGGATGGTCCAAAAGGGTGGCCTCACCAGCCCTGTGTTCCCTAGGGAGGCCACACGGTTACGGAGCCGATGGCTGACGTATTTCATGGCAGTCAAGTCCAATGGCAGCGTCTTCGTCCGGGACTCCTCTCAGGTGCACCCGCTAGCTGTGCTGCTGCTGACCGACGGGGACGTGCACATCCGTGGTGGGTGCCTGCAGGCCTCCCGCCCACCCCGCTCTGCAGCTGCTCCTCCGGGGCCTGGCCTCACCACAGTTCCCCACCATCTTTTCCATTCCCTCAGATGACGGGCGCCGGGCCACCATCTCACTGAGCGACAGTGACCTGCTGCGGCTGGAGGGTGACTCGCGTACCGTGCGGCTGCTGAAGGAGCTGCGGCGGGCCCTGGGCCGCATGGTGGAGCGGAGCCTGCGCAGCGAGCTGGCTGCACTTCCCCCCAGCGTACAGGAGGAGCACGGGCAGCTGCTTGCGCTACTGGCAGAGCTGCTGCGAGGACCCTGTGGCAGCTTTGATGTGCGCAAGACAGCTGACGACTGAGCCCTGCTTCTGCTGGGGCTGTGTACAGAGTGCAAATGTTTATTTAAAATAAAGTTCTATTTATCCCTTGTGACCACTGCTGTCCACTAGGGGCTCCTCTCTCAGGGCCTCCATACACTGGGCCACGGTTCCCCAAAGAGGAAGGAGGAAGGTAGGTAGAGA
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TCGCCCCAGAACTCCGGCTGCAGAGTGATGACATCTTGCCCTTGGGCAAGGACTCAGGGCCTCTGAGTGACCCTATCACAGGCAAGCCCTATGTGCCCCTGTTGGAAGCAGAGGAGGTACGTCTCAGCCAGAGTCTGCTAGAACTGTGGCGGCGGCGAGGGCCGGTCTGGCAGGAGGCCCCCCAGCTACCTGTGGACCCACATCGGGACACCATCCTCAACGCCATTGAGCAGCACCCGGTGGTGGTCATCTCTGGGGACACGGGCTGTGGGAAGACCACGCGCATCCCCCAGCTGTTGCTGGAGCGCTATGTGACCGAGGGCCGAGGTGCCCGCTGCAATGTTATCATCACCCAACCTCGCCGCATCTCTGCTGTGTCTGTGGCACAGCGGGTCAGCCACGAACTGGGCCCCTCCCTGCGCCGGAATGTGGGCTTCCAGGTGCGGTTGGAAAGTAAGCCCCCATCCCGAGGCGGGGCCCTGCTCTTCTGCACTGTGGGTATCCTGCTGCGTAAGCTGCAGAGCAACCCCAGCCTGGAGGGCGTGAGCCACGTCATCGTGGATGAGGTGCATGAGCGGGACGTGAACACAGACTTTCTGCTGATCCTGCTCAAGGGCCTGCAGCGGCTCAACCCGGCCCTGCGGCTGGTGCTCATGAGTGCCACAGGGGACAATGAGCGCTTCTCCCGATACTTTGGTGGCTGCCCCGTCATCAAGGTGCCTGGCTTCATGTACCCAGTCAAGGAGCACTACCTAGAGGACATCCTGGCCAAGTTGGGCAAGCACCAGTACCTGCACCGGCACCGGCACCATGAGGTGAGGGACACCCCCATCCCACCCAAGGCTCCTGGCCTTTCCTCCGTGGATGCCCCTCCTCCCTGGCCCTGGGGCTTGGTGCCTGGGGCAAGTTACCCTCCCCAGTCCTCGGTTTCCTTGATAGAAACTGGGGACTAACCCTGCCTGCGTGGCACACGTGAGGATTGGAGTTGATGTCAAGCGGCTCCGTCTCACTGAGTCAGGTGGCTGTGTCCTTGGCATGACCCCTTACCCCGGGGCTGTGACTGTGGCCTCTCTTCCCCCACCCCAGTCTGAGGATGAATGCGCACTCGATTTGGACCTTGTGACTGATCTGGTTCTGCACATCGATGCTCGCGGGGAACCAGGTGGGTGCCTCCCCATCTGTCCCATGCTAGCCCTGGCCACGTTTGCAGCAACAGCTGGCTCATGCCCCAGGGCTCCTTTACAGGTGGGATCCTGTGCTTCCTGCCTGGGTGGCAGGAGATCAAAGGAGTGCAGCAGCGCCTCCAGGAGGCCCTGGGCATGCACGAGAGCAAGTACCTCATCCTGCCAGGTGAGAGCCCCGGCGGAGGGACCAGGGACCTTTGGAAACCAGCCTGACCTCTGTCCTAGGGACTGACCCAACTGGGACTCCAGGGGCCCCGGTTTCTGACCAAGCTGTGGCACTTTTCACTGGGCATAGTGTTTATCTGCGCCTGTTTCATCAAAATGGGGTCAAAATCCTTGCCCTGCCCACATTCCAGGGGGGAATTCTGGTGGAAGCAGTGCCCATAACTGGTGTGTGTCTTGCCCACCAGTGCACTCCAACATCCCCATGATGGATCAGAAGGCCATATTCCAGCAGCCTCCAGTTGGGGTGCGCAAGATTGTCTTGGCCACCAACATTGCTGAGACTTCCATCACAATCAATGACATCGTGCATGTGGTGGACAGTGGGCTGCACAAGGAAGAACGCTATGACCTGAAGACCAAGGTGGCACCTACCTCCTGGGCCCGGCCAACCACTGGGGGAGGGACTCCGTTTTGAGGTGGTCCCCAGCCCAGATCTACCTTAGACCTGCTTTGTGTGTCTTCAGAAGGCCGCGCTTGTGGGGTCTCAGTGTTCCTGATGTAGGGGGCTGGTGAGGGTTACTCAGGGAGTGGGGAAGCACTGAGGAAGTGGCATTTGTGTGCTGCTTACTTGCCACCTCCTCCAGGTGTCCTGCCTGGAGACAGTGTGGGTATCAAGAGCCAATGTGATCCAGCGCCGGGACCGGGCGGGCCGCTGCCAGTCCGGCTTTGCCTACCACTTGTTCCCTCGAAGCCGGCTGGAGAAAATGGTCCCTTTCCAAGTGCCAGAGATCCTGCGCACACCTCTTGAGAACCTGGTGCTGCAAGCGAAAATCCACATGCCTGAGAAGACGGTGCGGCGGGGCGGGGCAGGGGCTGGCCTGGGGACCAGGCAGGTGGGAGGCAGGCTCATGGCGGGCTCTGGCTCTGTCATAGGCGGTGGAGTTCCTGTCCAAGGCTGTGGACAGTCCAAACATCAAGGCAGTGGACGAGGCTGTGATCTTGCTCCAGGAGATCGGTATGTAGGGGCTGGGCTGGGCTGGGCTGGGGAGTGGCTCTCGAGGGTGGTACTGACAGCTGAGCCGTTGCAGGGGTGCTGGACCAGCGGGAGTACCTGACTACCCTGGGGCAGCGCCTGGCTCACATCTCCACCGACCCCCGGTTGGCCAAGGCCATTGTGTTGGCTGCCATCTTCCGTTGCCTGCACCCACTACTGGTGGTCGTTTCCTGCCTCACCCGGGACCCCTTCAGCAGCAGCCTACAGAACCGGGCAGAGGTGGACAAGGTCAGTCCTGGCTCCTTCCTGGAGCCGTCCACCCACTGCTGTTCTGAGGGGGCGTTGTCTAGCCCCTGCCTGTGATCCGGCTGCCCTCTTCTCCCCTCCCAGGTGAAAGCACTGTTGAGCCATGACAGCGGCAGTGACCACCTGGCCTTTGTGCGGGCTGTCGCCGGCTGGGAGGAGGTGCTGCGTTGGCAGGACCGCAGCTCCCGGGAGAATTACCTGGAGGAAAACCTGCTGTACGCACCCAGCCTGCGCTTCATCCACGGTCAGTCGGGCCCACACCTGCTCTCCTGAGCCCCTCCCACCCCCACTGAGTTTCTGTCACCTCCAGCCTGTGGCTAGGGGCTGTAGGTCCACCACACATTCTGTCTCCCTAGGACTCATCAAGCAGTTCTCAGAGAACATTTATGAGGCCTTCCTGGTGGGGAAGCCCTCGGACTGCACCCTGGCCTCCGCCCAGTGCAACGAGTACAGTGAGGAGGAGGAGCTGGTGAAGGGCGTGCTGATGGCCGGCCTCTACCCCAACCTCATCCAGGTGCTGCCTCTGGGAGGGAATGGAGTTCACCAGGTCCCAGCCTCCTTCCCTGTCTGCAGCTCCTTGCTCAGCCCCACCCGTCTTTTCCTCCATCCCTGCAGGTGAGGCAGGGCAAGGTCACCCGGCAGGGGAAGTTCAAGCCCAACAGCGTCACATATAGGACCAAATCAGGCAACATCCTGCTGCACAAGTCGACCATTAACAGGTGAGGGCATGCAGGCCTGGATGGGGCAGCTGGGATGGTCCAAAAGGGTGGCCTCACCAGCCCTGTGTTCCCTAGGGAGGCCACACGGTTACGGAGCCGATGGCTGACGTATTTCATGGCAGTCAAGTCCAATGGCAGCGTCTTCGTCCGGGACTCCTCTCAGGTGCACCCGCTAGCTGTGCTGCTGCTGACCGACGGGGACGTGCACATCCGTGGTGGGTGCCTGCAGGCCTCCCGCCCACCCCGCTCTGCAGCTGCTCCTCCGGGGCCTGGCCTCACCACAGTTCCCCACCATCTTTTCCATTCCCTCAGATGACGGGCGCCGGGCCACCATCTCACTGAGCGACAGTGACCTGCTGCGGCTGGAGGGTGACTCGCGTACCGTGCGGCTGCTGAAGGAGCTGCGGCGGGCCCTGGGCCGCATGGTGGAGCGGAGCCTGCGCAGCGAGCTGGCTGCACTTCCCCCCAGCGTACAGGAGGAGCACGGGCAGCTGCTTGCGCTACTGGCAGAGCTGCTGCGAGGACCCTGTGGCAGCTTTGATGTGCGCAAGACAGCTGACGACTGAGCCCTGCTTCTGCTGGGGCTGTGTACAGAGTGCAAATGTTTATTTAAAATAAAGTTCTATTTATCCCTTGTGACCACTGCTGTCCACTAGGGGCTCCTCTCTCAGGGCCTCCATACACTGGGCCACGGTTCCCCAAAGAGGAAGGAGGAAGGTAGGTAGAGA
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Task1_train_6742
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The gene DHX30 (DExH-box helicase 30), on Chromosome 3, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Neurodevelopmental disorder with severe motor impairment and absent language
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GCCCCAGAACTCCGGCTGCAGAGTGATGACATCTTGCCCTTGGGCAAGGACTCAGGGCCTCTGAGTGACCCTATCACAGGCAAGCCCTATGTGCCCCTGTTGGAAGCAGAGGAGGTACGTCTCAGCCAGAGTCTGCTAGAACTGTGGCGGCGGCGAGGGCCGGTCTGGCAGGAGGCCCCCCAGCTACCTGTGGACCCACATCGGGACACCATCCTCAACGCCATTGAGCAGCACCCGGTGGTGGTCATCTCTGGGGACACGGGCTGTGGGAAGACCACGCGCATCCCCCAGCTGTTGCTGGAGCGCTATGTGACCGAGGGCCGAGGTGCCCGCTGCAATGTTATCATCACCCAACCTCGCCGCATCTCTGCTGTGTCTGTGGCACAGCGGGTCAGCCACGAACTGGGCCCCTCCCTGCGCCGGAATGTGGGCTTCCAGGTGCGGTTGGAAAGTAAGCCCCCATCCCGAGGCGGGGCCCTGCTCTTCTGCACTGTGGGTATCCTGCTGCGTAAGCTGCAGAGCAACCCCAGCCTGGAGGGCGTGAGCCACGTCATCGTGGATGAGGTGCATGAGCGGGACGTGAACACAGACTTTCTGCTGATCCTGCTCAAGGGCCTGCAGCGGCTCAACCCGGCCCTGCGGCTGGTGCTCATGAGTGCCACAGGGGACAATGAGCGCTTCTCCCGATACTTTGGTGGCTGCCCCGTCATCAAGGTGCCTGGCTTCATGTACCCAGTCAAGGAGCACTACCTAGAGGACATCCTGGCCAAGTTGGGCAAGCACCAGTACCTGCACCGGCACCGGCACCATGAGGTGAGGGACACCCCCATCCCACCCAAGGCTCCTGGCCTTTCCTCCGTGGATGCCCCTCCTCCCTGGCCCTGGGGCTTGGTGCCTGGGGCAAGTTACCCTCCCCAGTCCTCGGTTTCCTTGATAGAAACTGGGGACTAACCCTGCCTGCGTGGCACACGTGAGGATTGGAGTTGATGTCAAGCGGCTCCGTCTCACTGAGTCAGGTGGCTGTGTCCTTGGCATGACCCCTTACCCCGGGGCTGTGACTGTGGCCTCTCTTCCCCCACCCCAGTCTGAGGATGAATGCGCACTCGATTTGGACCTTGTGACTGATCTGGTTCTGCACATCGATGCTCGCGGGGAACCAGGTGGGTGCCTCCCCATCTGTCCCATGCTAGCCCTGGCCACGTTTGCAGCAACAGCTGGCTCATGCCCCAGGGCTCCTTTACAGGTGGGATCCTGTGCTTCCTGCCTGGGTGGCAGGAGATCAAAGGAGTGCAGCAGCGCCTCCAGGAGGCCCTGGGCATGCACGAGAGCAAGTACCTCATCCTGCCAGGTGAGAGCCCCGGCGGAGGGACCAGGGACCTTTGGAAACCAGCCTGACCTCTGTCCTAGGGACTGACCCAACTGGGACTCCAGGGGCCCCGGTTTCTGACCAAGCTGTGGCACTTTTCACTGGGCATAGTGTTTATCTGCGCCTGTTTCATCAAAATGGGGTCAAAATCCTTGCCCTGCCCACATTCCAGGGGGGAATTCTGGTGGAAGCAGTGCCCATAACTGGTGTGTGTCTTGCCCACCAGTGCACTCCAACATCCCCATGATGGATCAGAAGGCCATATTCCAGCAGCCTCCAGTTGGGGTGCGCAAGATTGTCTTGGCCACCAACATTGCTGAGACTTCCATCACAATCAATGACATCGTGCATGTGGTGGACAGTGGGCTGCACAAGGAAGAACGCTATGACCTGAAGACCAAGGTGGCACCTACCTCCTGGGCCCGGCCAACCACTGGGGGAGGGACTCCGTTTTGAGGTGGTCCCCAGCCCAGATCTACCTTAGACCTGCTTTGTGTGTCTTCAGAAGGCCGCGCTTGTGGGGTCTCAGTGTTCCTGATGTAGGGGGCTGGTGAGGGTTACTCAGGGAGTGGGGAAGCACTGAGGAAGTGGCATTTGTGTGCTGCTTACTTGCCACCTCCTCCAGGTGTCCTGCCTGGAGACAGTGTGGGTATCAAGAGCCAATGTGATCCAGCGCCGGGGCCGGGCGGGCCGCTGCCAGTCCGGCTTTGCCTACCACTTGTTCCCTCGAAGCCGGCTGGAGAAAATGGTCCCTTTCCAAGTGCCAGAGATCCTGCGCACACCTCTTGAGAACCTGGTGCTGCAAGCGAAAATCCACATGCCTGAGAAGACGGTGCGGCGGGGCGGGGCAGGGGCTGGCCTGGGGACCAGGCAGGTGGGAGGCAGGCTCATGGCGGGCTCTGGCTCTGTCATAGGCGGTGGAGTTCCTGTCCAAGGCTGTGGACAGTCCAAACATCAAGGCAGTGGACGAGGCTGTGATCTTGCTCCAGGAGATCGGTATGTAGGGGCTGGGCTGGGCTGGGCTGGGGAGTGGCTCTCGAGGGTGGTACTGACAGCTGAGCCGTTGCAGGGGTGCTGGACCAGCGGGAGTACCTGACTACCCTGGGGCAGCGCCTGGCTCACATCTCCACCGACCCCCGGTTGGCCAAGGCCATTGTGTTGGCTGCCATCTTCCGTTGCCTGCACCCACTACTGGTGGTCGTTTCCTGCCTCACCCGGGACCCCTTCAGCAGCAGCCTACAGAACCGGGCAGAGGTGGACAAGGTCAGTCCTGGCTCCTTCCTGGAGCCGTCCACCCACTGCTGTTCTGAGGGGGCGTTGTCTAGCCCCTGCCTGTGATCCGGCTGCCCTCTTCTCCCCTCCCAGGTGAAAGCACTGTTGAGCCATGACAGCGGCAGTGACCACCTGGCCTTTGTGCGGGCTGTCGCCGGCTGGGAGGAGGTGCTGCGTTGGCAGGACCGCAGCTCCCGGGAGAATTACCTGGAGGAAAACCTGCTGTACGCACCCAGCCTGCGCTTCATCCACGGTCAGTCGGGCCCACACCTGCTCTCCTGAGCCCCTCCCACCCCCACTGAGTTTCTGTCACCTCCAGCCTGTGGCTAGGGGCTGTAGGTCCACCACACATTCTGTCTCCCTAGGACTCATCAAGCAGTTCTCAGAGAACATTTATGAGGCCTTCCTGGTGGGGAAGCCCTCGGACTGCACCCTGGCCTCCGCCCAGTGCAACGAGTACAGTGAGGAGGAGGAGCTGGTGAAGGGCGTGCTGATGGCCGGCCTCTACCCCAACCTCATCCAGGTGCTGCCTCTGGGAGGGAATGGAGTTCACCAGGTCCCAGCCTCCTTCCCTGTCTGCAGCTCCTTGCTCAGCCCCACCCGTCTTTTCCTCCATCCCTGCAGGTGAGGCAGGGCAAGGTCACCCGGCAGGGGAAGTTCAAGCCCAACAGCGTCACATATAGGACCAAATCAGGCAACATCCTGCTGCACAAGTCGACCATTAACAGGTGAGGGCATGCAGGCCTGGATGGGGCAGCTGGGATGGTCCAAAAGGGTGGCCTCACCAGCCCTGTGTTCCCTAGGGAGGCCACACGGTTACGGAGCCGATGGCTGACGTATTTCATGGCAGTCAAGTCCAATGGCAGCGTCTTCGTCCGGGACTCCTCTCAGGTGCACCCGCTAGCTGTGCTGCTGCTGACCGACGGGGACGTGCACATCCGTGGTGGGTGCCTGCAGGCCTCCCGCCCACCCCGCTCTGCAGCTGCTCCTCCGGGGCCTGGCCTCACCACAGTTCCCCACCATCTTTTCCATTCCCTCAGATGACGGGCGCCGGGCCACCATCTCACTGAGCGACAGTGACCTGCTGCGGCTGGAGGGTGACTCGCGTACCGTGCGGCTGCTGAAGGAGCTGCGGCGGGCCCTGGGCCGCATGGTGGAGCGGAGCCTGCGCAGCGAGCTGGCTGCACTTCCCCCCAGCGTACAGGAGGAGCACGGGCAGCTGCTTGCGCTACTGGCAGAGCTGCTGCGAGGACCCTGTGGCAGCTTTGATGTGCGCAAGACAGCTGACGACTGAGCCCTGCTTCTGCTGGGGCTGTGTACAGAGTGCAAATGTTTATTTAAAATAAAGTTCTATTTATCCCTTGTGACCACTGCTGTCCACTAGGGGCTCCTCTCTCAGGGCCTCCATACACTGGGCCACGGTTCCCCAAAGAGGAAGGAGGAAGGTAGGTAGAGAAG
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GCCCCAGAACTCCGGCTGCAGAGTGATGACATCTTGCCCTTGGGCAAGGACTCAGGGCCTCTGAGTGACCCTATCACAGGCAAGCCCTATGTGCCCCTGTTGGAAGCAGAGGAGGTACGTCTCAGCCAGAGTCTGCTAGAACTGTGGCGGCGGCGAGGGCCGGTCTGGCAGGAGGCCCCCCAGCTACCTGTGGACCCACATCGGGACACCATCCTCAACGCCATTGAGCAGCACCCGGTGGTGGTCATCTCTGGGGACACGGGCTGTGGGAAGACCACGCGCATCCCCCAGCTGTTGCTGGAGCGCTATGTGACCGAGGGCCGAGGTGCCCGCTGCAATGTTATCATCACCCAACCTCGCCGCATCTCTGCTGTGTCTGTGGCACAGCGGGTCAGCCACGAACTGGGCCCCTCCCTGCGCCGGAATGTGGGCTTCCAGGTGCGGTTGGAAAGTAAGCCCCCATCCCGAGGCGGGGCCCTGCTCTTCTGCACTGTGGGTATCCTGCTGCGTAAGCTGCAGAGCAACCCCAGCCTGGAGGGCGTGAGCCACGTCATCGTGGATGAGGTGCATGAGCGGGACGTGAACACAGACTTTCTGCTGATCCTGCTCAAGGGCCTGCAGCGGCTCAACCCGGCCCTGCGGCTGGTGCTCATGAGTGCCACAGGGGACAATGAGCGCTTCTCCCGATACTTTGGTGGCTGCCCCGTCATCAAGGTGCCTGGCTTCATGTACCCAGTCAAGGAGCACTACCTAGAGGACATCCTGGCCAAGTTGGGCAAGCACCAGTACCTGCACCGGCACCGGCACCATGAGGTGAGGGACACCCCCATCCCACCCAAGGCTCCTGGCCTTTCCTCCGTGGATGCCCCTCCTCCCTGGCCCTGGGGCTTGGTGCCTGGGGCAAGTTACCCTCCCCAGTCCTCGGTTTCCTTGATAGAAACTGGGGACTAACCCTGCCTGCGTGGCACACGTGAGGATTGGAGTTGATGTCAAGCGGCTCCGTCTCACTGAGTCAGGTGGCTGTGTCCTTGGCATGACCCCTTACCCCGGGGCTGTGACTGTGGCCTCTCTTCCCCCACCCCAGTCTGAGGATGAATGCGCACTCGATTTGGACCTTGTGACTGATCTGGTTCTGCACATCGATGCTCGCGGGGAACCAGGTGGGTGCCTCCCCATCTGTCCCATGCTAGCCCTGGCCACGTTTGCAGCAACAGCTGGCTCATGCCCCAGGGCTCCTTTACAGGTGGGATCCTGTGCTTCCTGCCTGGGTGGCAGGAGATCAAAGGAGTGCAGCAGCGCCTCCAGGAGGCCCTGGGCATGCACGAGAGCAAGTACCTCATCCTGCCAGGTGAGAGCCCCGGCGGAGGGACCAGGGACCTTTGGAAACCAGCCTGACCTCTGTCCTAGGGACTGACCCAACTGGGACTCCAGGGGCCCCGGTTTCTGACCAAGCTGTGGCACTTTTCACTGGGCATAGTGTTTATCTGCGCCTGTTTCATCAAAATGGGGTCAAAATCCTTGCCCTGCCCACATTCCAGGGGGGAATTCTGGTGGAAGCAGTGCCCATAACTGGTGTGTGTCTTGCCCACCAGTGCACTCCAACATCCCCATGATGGATCAGAAGGCCATATTCCAGCAGCCTCCAGTTGGGGTGCGCAAGATTGTCTTGGCCACCAACATTGCTGAGACTTCCATCACAATCAATGACATCGTGCATGTGGTGGACAGTGGGCTGCACAAGGAAGAACGCTATGACCTGAAGACCAAGGTGGCACCTACCTCCTGGGCCCGGCCAACCACTGGGGGAGGGACTCCGTTTTGAGGTGGTCCCCAGCCCAGATCTACCTTAGACCTGCTTTGTGTGTCTTCAGAAGGCCGCGCTTGTGGGGTCTCAGTGTTCCTGATGTAGGGGGCTGGTGAGGGTTACTCAGGGAGTGGGGAAGCACTGAGGAAGTGGCATTTGTGTGCTGCTTACTTGCCACCTCCTCCAGGTGTCCTGCCTGGAGACAGTGTGGGTATCAAGAGCCAATGTGATCCAGCGCCGGGGCTGGGCGGGCCGCTGCCAGTCCGGCTTTGCCTACCACTTGTTCCCTCGAAGCCGGCTGGAGAAAATGGTCCCTTTCCAAGTGCCAGAGATCCTGCGCACACCTCTTGAGAACCTGGTGCTGCAAGCGAAAATCCACATGCCTGAGAAGACGGTGCGGCGGGGCGGGGCAGGGGCTGGCCTGGGGACCAGGCAGGTGGGAGGCAGGCTCATGGCGGGCTCTGGCTCTGTCATAGGCGGTGGAGTTCCTGTCCAAGGCTGTGGACAGTCCAAACATCAAGGCAGTGGACGAGGCTGTGATCTTGCTCCAGGAGATCGGTATGTAGGGGCTGGGCTGGGCTGGGCTGGGGAGTGGCTCTCGAGGGTGGTACTGACAGCTGAGCCGTTGCAGGGGTGCTGGACCAGCGGGAGTACCTGACTACCCTGGGGCAGCGCCTGGCTCACATCTCCACCGACCCCCGGTTGGCCAAGGCCATTGTGTTGGCTGCCATCTTCCGTTGCCTGCACCCACTACTGGTGGTCGTTTCCTGCCTCACCCGGGACCCCTTCAGCAGCAGCCTACAGAACCGGGCAGAGGTGGACAAGGTCAGTCCTGGCTCCTTCCTGGAGCCGTCCACCCACTGCTGTTCTGAGGGGGCGTTGTCTAGCCCCTGCCTGTGATCCGGCTGCCCTCTTCTCCCCTCCCAGGTGAAAGCACTGTTGAGCCATGACAGCGGCAGTGACCACCTGGCCTTTGTGCGGGCTGTCGCCGGCTGGGAGGAGGTGCTGCGTTGGCAGGACCGCAGCTCCCGGGAGAATTACCTGGAGGAAAACCTGCTGTACGCACCCAGCCTGCGCTTCATCCACGGTCAGTCGGGCCCACACCTGCTCTCCTGAGCCCCTCCCACCCCCACTGAGTTTCTGTCACCTCCAGCCTGTGGCTAGGGGCTGTAGGTCCACCACACATTCTGTCTCCCTAGGACTCATCAAGCAGTTCTCAGAGAACATTTATGAGGCCTTCCTGGTGGGGAAGCCCTCGGACTGCACCCTGGCCTCCGCCCAGTGCAACGAGTACAGTGAGGAGGAGGAGCTGGTGAAGGGCGTGCTGATGGCCGGCCTCTACCCCAACCTCATCCAGGTGCTGCCTCTGGGAGGGAATGGAGTTCACCAGGTCCCAGCCTCCTTCCCTGTCTGCAGCTCCTTGCTCAGCCCCACCCGTCTTTTCCTCCATCCCTGCAGGTGAGGCAGGGCAAGGTCACCCGGCAGGGGAAGTTCAAGCCCAACAGCGTCACATATAGGACCAAATCAGGCAACATCCTGCTGCACAAGTCGACCATTAACAGGTGAGGGCATGCAGGCCTGGATGGGGCAGCTGGGATGGTCCAAAAGGGTGGCCTCACCAGCCCTGTGTTCCCTAGGGAGGCCACACGGTTACGGAGCCGATGGCTGACGTATTTCATGGCAGTCAAGTCCAATGGCAGCGTCTTCGTCCGGGACTCCTCTCAGGTGCACCCGCTAGCTGTGCTGCTGCTGACCGACGGGGACGTGCACATCCGTGGTGGGTGCCTGCAGGCCTCCCGCCCACCCCGCTCTGCAGCTGCTCCTCCGGGGCCTGGCCTCACCACAGTTCCCCACCATCTTTTCCATTCCCTCAGATGACGGGCGCCGGGCCACCATCTCACTGAGCGACAGTGACCTGCTGCGGCTGGAGGGTGACTCGCGTACCGTGCGGCTGCTGAAGGAGCTGCGGCGGGCCCTGGGCCGCATGGTGGAGCGGAGCCTGCGCAGCGAGCTGGCTGCACTTCCCCCCAGCGTACAGGAGGAGCACGGGCAGCTGCTTGCGCTACTGGCAGAGCTGCTGCGAGGACCCTGTGGCAGCTTTGATGTGCGCAAGACAGCTGACGACTGAGCCCTGCTTCTGCTGGGGCTGTGTACAGAGTGCAAATGTTTATTTAAAATAAAGTTCTATTTATCCCTTGTGACCACTGCTGTCCACTAGGGGCTCCTCTCTCAGGGCCTCCATACACTGGGCCACGGTTCCCCAAAGAGGAAGGAGGAAGGTAGGTAGAGAAG
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Task1_train_6743
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This is a variant in DHX30 (DExH-box helicase 30), located on Chromosome 3. Is this mutation a likely cause of disease or not?
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Pathogenic; Neurodevelopmental disorder with severe motor impairment and absent language
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CCCCAGAACTCCGGCTGCAGAGTGATGACATCTTGCCCTTGGGCAAGGACTCAGGGCCTCTGAGTGACCCTATCACAGGCAAGCCCTATGTGCCCCTGTTGGAAGCAGAGGAGGTACGTCTCAGCCAGAGTCTGCTAGAACTGTGGCGGCGGCGAGGGCCGGTCTGGCAGGAGGCCCCCCAGCTACCTGTGGACCCACATCGGGACACCATCCTCAACGCCATTGAGCAGCACCCGGTGGTGGTCATCTCTGGGGACACGGGCTGTGGGAAGACCACGCGCATCCCCCAGCTGTTGCTGGAGCGCTATGTGACCGAGGGCCGAGGTGCCCGCTGCAATGTTATCATCACCCAACCTCGCCGCATCTCTGCTGTGTCTGTGGCACAGCGGGTCAGCCACGAACTGGGCCCCTCCCTGCGCCGGAATGTGGGCTTCCAGGTGCGGTTGGAAAGTAAGCCCCCATCCCGAGGCGGGGCCCTGCTCTTCTGCACTGTGGGTATCCTGCTGCGTAAGCTGCAGAGCAACCCCAGCCTGGAGGGCGTGAGCCACGTCATCGTGGATGAGGTGCATGAGCGGGACGTGAACACAGACTTTCTGCTGATCCTGCTCAAGGGCCTGCAGCGGCTCAACCCGGCCCTGCGGCTGGTGCTCATGAGTGCCACAGGGGACAATGAGCGCTTCTCCCGATACTTTGGTGGCTGCCCCGTCATCAAGGTGCCTGGCTTCATGTACCCAGTCAAGGAGCACTACCTAGAGGACATCCTGGCCAAGTTGGGCAAGCACCAGTACCTGCACCGGCACCGGCACCATGAGGTGAGGGACACCCCCATCCCACCCAAGGCTCCTGGCCTTTCCTCCGTGGATGCCCCTCCTCCCTGGCCCTGGGGCTTGGTGCCTGGGGCAAGTTACCCTCCCCAGTCCTCGGTTTCCTTGATAGAAACTGGGGACTAACCCTGCCTGCGTGGCACACGTGAGGATTGGAGTTGATGTCAAGCGGCTCCGTCTCACTGAGTCAGGTGGCTGTGTCCTTGGCATGACCCCTTACCCCGGGGCTGTGACTGTGGCCTCTCTTCCCCCACCCCAGTCTGAGGATGAATGCGCACTCGATTTGGACCTTGTGACTGATCTGGTTCTGCACATCGATGCTCGCGGGGAACCAGGTGGGTGCCTCCCCATCTGTCCCATGCTAGCCCTGGCCACGTTTGCAGCAACAGCTGGCTCATGCCCCAGGGCTCCTTTACAGGTGGGATCCTGTGCTTCCTGCCTGGGTGGCAGGAGATCAAAGGAGTGCAGCAGCGCCTCCAGGAGGCCCTGGGCATGCACGAGAGCAAGTACCTCATCCTGCCAGGTGAGAGCCCCGGCGGAGGGACCAGGGACCTTTGGAAACCAGCCTGACCTCTGTCCTAGGGACTGACCCAACTGGGACTCCAGGGGCCCCGGTTTCTGACCAAGCTGTGGCACTTTTCACTGGGCATAGTGTTTATCTGCGCCTGTTTCATCAAAATGGGGTCAAAATCCTTGCCCTGCCCACATTCCAGGGGGGAATTCTGGTGGAAGCAGTGCCCATAACTGGTGTGTGTCTTGCCCACCAGTGCACTCCAACATCCCCATGATGGATCAGAAGGCCATATTCCAGCAGCCTCCAGTTGGGGTGCGCAAGATTGTCTTGGCCACCAACATTGCTGAGACTTCCATCACAATCAATGACATCGTGCATGTGGTGGACAGTGGGCTGCACAAGGAAGAACGCTATGACCTGAAGACCAAGGTGGCACCTACCTCCTGGGCCCGGCCAACCACTGGGGGAGGGACTCCGTTTTGAGGTGGTCCCCAGCCCAGATCTACCTTAGACCTGCTTTGTGTGTCTTCAGAAGGCCGCGCTTGTGGGGTCTCAGTGTTCCTGATGTAGGGGGCTGGTGAGGGTTACTCAGGGAGTGGGGAAGCACTGAGGAAGTGGCATTTGTGTGCTGCTTACTTGCCACCTCCTCCAGGTGTCCTGCCTGGAGACAGTGTGGGTATCAAGAGCCAATGTGATCCAGCGCCGGGGCCGGGCGGGCCGCTGCCAGTCCGGCTTTGCCTACCACTTGTTCCCTCGAAGCCGGCTGGAGAAAATGGTCCCTTTCCAAGTGCCAGAGATCCTGCGCACACCTCTTGAGAACCTGGTGCTGCAAGCGAAAATCCACATGCCTGAGAAGACGGTGCGGCGGGGCGGGGCAGGGGCTGGCCTGGGGACCAGGCAGGTGGGAGGCAGGCTCATGGCGGGCTCTGGCTCTGTCATAGGCGGTGGAGTTCCTGTCCAAGGCTGTGGACAGTCCAAACATCAAGGCAGTGGACGAGGCTGTGATCTTGCTCCAGGAGATCGGTATGTAGGGGCTGGGCTGGGCTGGGCTGGGGAGTGGCTCTCGAGGGTGGTACTGACAGCTGAGCCGTTGCAGGGGTGCTGGACCAGCGGGAGTACCTGACTACCCTGGGGCAGCGCCTGGCTCACATCTCCACCGACCCCCGGTTGGCCAAGGCCATTGTGTTGGCTGCCATCTTCCGTTGCCTGCACCCACTACTGGTGGTCGTTTCCTGCCTCACCCGGGACCCCTTCAGCAGCAGCCTACAGAACCGGGCAGAGGTGGACAAGGTCAGTCCTGGCTCCTTCCTGGAGCCGTCCACCCACTGCTGTTCTGAGGGGGCGTTGTCTAGCCCCTGCCTGTGATCCGGCTGCCCTCTTCTCCCCTCCCAGGTGAAAGCACTGTTGAGCCATGACAGCGGCAGTGACCACCTGGCCTTTGTGCGGGCTGTCGCCGGCTGGGAGGAGGTGCTGCGTTGGCAGGACCGCAGCTCCCGGGAGAATTACCTGGAGGAAAACCTGCTGTACGCACCCAGCCTGCGCTTCATCCACGGTCAGTCGGGCCCACACCTGCTCTCCTGAGCCCCTCCCACCCCCACTGAGTTTCTGTCACCTCCAGCCTGTGGCTAGGGGCTGTAGGTCCACCACACATTCTGTCTCCCTAGGACTCATCAAGCAGTTCTCAGAGAACATTTATGAGGCCTTCCTGGTGGGGAAGCCCTCGGACTGCACCCTGGCCTCCGCCCAGTGCAACGAGTACAGTGAGGAGGAGGAGCTGGTGAAGGGCGTGCTGATGGCCGGCCTCTACCCCAACCTCATCCAGGTGCTGCCTCTGGGAGGGAATGGAGTTCACCAGGTCCCAGCCTCCTTCCCTGTCTGCAGCTCCTTGCTCAGCCCCACCCGTCTTTTCCTCCATCCCTGCAGGTGAGGCAGGGCAAGGTCACCCGGCAGGGGAAGTTCAAGCCCAACAGCGTCACATATAGGACCAAATCAGGCAACATCCTGCTGCACAAGTCGACCATTAACAGGTGAGGGCATGCAGGCCTGGATGGGGCAGCTGGGATGGTCCAAAAGGGTGGCCTCACCAGCCCTGTGTTCCCTAGGGAGGCCACACGGTTACGGAGCCGATGGCTGACGTATTTCATGGCAGTCAAGTCCAATGGCAGCGTCTTCGTCCGGGACTCCTCTCAGGTGCACCCGCTAGCTGTGCTGCTGCTGACCGACGGGGACGTGCACATCCGTGGTGGGTGCCTGCAGGCCTCCCGCCCACCCCGCTCTGCAGCTGCTCCTCCGGGGCCTGGCCTCACCACAGTTCCCCACCATCTTTTCCATTCCCTCAGATGACGGGCGCCGGGCCACCATCTCACTGAGCGACAGTGACCTGCTGCGGCTGGAGGGTGACTCGCGTACCGTGCGGCTGCTGAAGGAGCTGCGGCGGGCCCTGGGCCGCATGGTGGAGCGGAGCCTGCGCAGCGAGCTGGCTGCACTTCCCCCCAGCGTACAGGAGGAGCACGGGCAGCTGCTTGCGCTACTGGCAGAGCTGCTGCGAGGACCCTGTGGCAGCTTTGATGTGCGCAAGACAGCTGACGACTGAGCCCTGCTTCTGCTGGGGCTGTGTACAGAGTGCAAATGTTTATTTAAAATAAAGTTCTATTTATCCCTTGTGACCACTGCTGTCCACTAGGGGCTCCTCTCTCAGGGCCTCCATACACTGGGCCACGGTTCCCCAAAGAGGAAGGAGGAAGGTAGGTAGAGAAGA
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CCCCAGAACTCCGGCTGCAGAGTGATGACATCTTGCCCTTGGGCAAGGACTCAGGGCCTCTGAGTGACCCTATCACAGGCAAGCCCTATGTGCCCCTGTTGGAAGCAGAGGAGGTACGTCTCAGCCAGAGTCTGCTAGAACTGTGGCGGCGGCGAGGGCCGGTCTGGCAGGAGGCCCCCCAGCTACCTGTGGACCCACATCGGGACACCATCCTCAACGCCATTGAGCAGCACCCGGTGGTGGTCATCTCTGGGGACACGGGCTGTGGGAAGACCACGCGCATCCCCCAGCTGTTGCTGGAGCGCTATGTGACCGAGGGCCGAGGTGCCCGCTGCAATGTTATCATCACCCAACCTCGCCGCATCTCTGCTGTGTCTGTGGCACAGCGGGTCAGCCACGAACTGGGCCCCTCCCTGCGCCGGAATGTGGGCTTCCAGGTGCGGTTGGAAAGTAAGCCCCCATCCCGAGGCGGGGCCCTGCTCTTCTGCACTGTGGGTATCCTGCTGCGTAAGCTGCAGAGCAACCCCAGCCTGGAGGGCGTGAGCCACGTCATCGTGGATGAGGTGCATGAGCGGGACGTGAACACAGACTTTCTGCTGATCCTGCTCAAGGGCCTGCAGCGGCTCAACCCGGCCCTGCGGCTGGTGCTCATGAGTGCCACAGGGGACAATGAGCGCTTCTCCCGATACTTTGGTGGCTGCCCCGTCATCAAGGTGCCTGGCTTCATGTACCCAGTCAAGGAGCACTACCTAGAGGACATCCTGGCCAAGTTGGGCAAGCACCAGTACCTGCACCGGCACCGGCACCATGAGGTGAGGGACACCCCCATCCCACCCAAGGCTCCTGGCCTTTCCTCCGTGGATGCCCCTCCTCCCTGGCCCTGGGGCTTGGTGCCTGGGGCAAGTTACCCTCCCCAGTCCTCGGTTTCCTTGATAGAAACTGGGGACTAACCCTGCCTGCGTGGCACACGTGAGGATTGGAGTTGATGTCAAGCGGCTCCGTCTCACTGAGTCAGGTGGCTGTGTCCTTGGCATGACCCCTTACCCCGGGGCTGTGACTGTGGCCTCTCTTCCCCCACCCCAGTCTGAGGATGAATGCGCACTCGATTTGGACCTTGTGACTGATCTGGTTCTGCACATCGATGCTCGCGGGGAACCAGGTGGGTGCCTCCCCATCTGTCCCATGCTAGCCCTGGCCACGTTTGCAGCAACAGCTGGCTCATGCCCCAGGGCTCCTTTACAGGTGGGATCCTGTGCTTCCTGCCTGGGTGGCAGGAGATCAAAGGAGTGCAGCAGCGCCTCCAGGAGGCCCTGGGCATGCACGAGAGCAAGTACCTCATCCTGCCAGGTGAGAGCCCCGGCGGAGGGACCAGGGACCTTTGGAAACCAGCCTGACCTCTGTCCTAGGGACTGACCCAACTGGGACTCCAGGGGCCCCGGTTTCTGACCAAGCTGTGGCACTTTTCACTGGGCATAGTGTTTATCTGCGCCTGTTTCATCAAAATGGGGTCAAAATCCTTGCCCTGCCCACATTCCAGGGGGGAATTCTGGTGGAAGCAGTGCCCATAACTGGTGTGTGTCTTGCCCACCAGTGCACTCCAACATCCCCATGATGGATCAGAAGGCCATATTCCAGCAGCCTCCAGTTGGGGTGCGCAAGATTGTCTTGGCCACCAACATTGCTGAGACTTCCATCACAATCAATGACATCGTGCATGTGGTGGACAGTGGGCTGCACAAGGAAGAACGCTATGACCTGAAGACCAAGGTGGCACCTACCTCCTGGGCCCGGCCAACCACTGGGGGAGGGACTCCGTTTTGAGGTGGTCCCCAGCCCAGATCTACCTTAGACCTGCTTTGTGTGTCTTCAGAAGGCCGCGCTTGTGGGGTCTCAGTGTTCCTGATGTAGGGGGCTGGTGAGGGTTACTCAGGGAGTGGGGAAGCACTGAGGAAGTGGCATTTGTGTGCTGCTTACTTGCCACCTCCTCCAGGTGTCCTGCCTGGAGACAGTGTGGGTATCAAGAGCCAATGTGATCCAGCGCCGGGGCCAGGCGGGCCGCTGCCAGTCCGGCTTTGCCTACCACTTGTTCCCTCGAAGCCGGCTGGAGAAAATGGTCCCTTTCCAAGTGCCAGAGATCCTGCGCACACCTCTTGAGAACCTGGTGCTGCAAGCGAAAATCCACATGCCTGAGAAGACGGTGCGGCGGGGCGGGGCAGGGGCTGGCCTGGGGACCAGGCAGGTGGGAGGCAGGCTCATGGCGGGCTCTGGCTCTGTCATAGGCGGTGGAGTTCCTGTCCAAGGCTGTGGACAGTCCAAACATCAAGGCAGTGGACGAGGCTGTGATCTTGCTCCAGGAGATCGGTATGTAGGGGCTGGGCTGGGCTGGGCTGGGGAGTGGCTCTCGAGGGTGGTACTGACAGCTGAGCCGTTGCAGGGGTGCTGGACCAGCGGGAGTACCTGACTACCCTGGGGCAGCGCCTGGCTCACATCTCCACCGACCCCCGGTTGGCCAAGGCCATTGTGTTGGCTGCCATCTTCCGTTGCCTGCACCCACTACTGGTGGTCGTTTCCTGCCTCACCCGGGACCCCTTCAGCAGCAGCCTACAGAACCGGGCAGAGGTGGACAAGGTCAGTCCTGGCTCCTTCCTGGAGCCGTCCACCCACTGCTGTTCTGAGGGGGCGTTGTCTAGCCCCTGCCTGTGATCCGGCTGCCCTCTTCTCCCCTCCCAGGTGAAAGCACTGTTGAGCCATGACAGCGGCAGTGACCACCTGGCCTTTGTGCGGGCTGTCGCCGGCTGGGAGGAGGTGCTGCGTTGGCAGGACCGCAGCTCCCGGGAGAATTACCTGGAGGAAAACCTGCTGTACGCACCCAGCCTGCGCTTCATCCACGGTCAGTCGGGCCCACACCTGCTCTCCTGAGCCCCTCCCACCCCCACTGAGTTTCTGTCACCTCCAGCCTGTGGCTAGGGGCTGTAGGTCCACCACACATTCTGTCTCCCTAGGACTCATCAAGCAGTTCTCAGAGAACATTTATGAGGCCTTCCTGGTGGGGAAGCCCTCGGACTGCACCCTGGCCTCCGCCCAGTGCAACGAGTACAGTGAGGAGGAGGAGCTGGTGAAGGGCGTGCTGATGGCCGGCCTCTACCCCAACCTCATCCAGGTGCTGCCTCTGGGAGGGAATGGAGTTCACCAGGTCCCAGCCTCCTTCCCTGTCTGCAGCTCCTTGCTCAGCCCCACCCGTCTTTTCCTCCATCCCTGCAGGTGAGGCAGGGCAAGGTCACCCGGCAGGGGAAGTTCAAGCCCAACAGCGTCACATATAGGACCAAATCAGGCAACATCCTGCTGCACAAGTCGACCATTAACAGGTGAGGGCATGCAGGCCTGGATGGGGCAGCTGGGATGGTCCAAAAGGGTGGCCTCACCAGCCCTGTGTTCCCTAGGGAGGCCACACGGTTACGGAGCCGATGGCTGACGTATTTCATGGCAGTCAAGTCCAATGGCAGCGTCTTCGTCCGGGACTCCTCTCAGGTGCACCCGCTAGCTGTGCTGCTGCTGACCGACGGGGACGTGCACATCCGTGGTGGGTGCCTGCAGGCCTCCCGCCCACCCCGCTCTGCAGCTGCTCCTCCGGGGCCTGGCCTCACCACAGTTCCCCACCATCTTTTCCATTCCCTCAGATGACGGGCGCCGGGCCACCATCTCACTGAGCGACAGTGACCTGCTGCGGCTGGAGGGTGACTCGCGTACCGTGCGGCTGCTGAAGGAGCTGCGGCGGGCCCTGGGCCGCATGGTGGAGCGGAGCCTGCGCAGCGAGCTGGCTGCACTTCCCCCCAGCGTACAGGAGGAGCACGGGCAGCTGCTTGCGCTACTGGCAGAGCTGCTGCGAGGACCCTGTGGCAGCTTTGATGTGCGCAAGACAGCTGACGACTGAGCCCTGCTTCTGCTGGGGCTGTGTACAGAGTGCAAATGTTTATTTAAAATAAAGTTCTATTTATCCCTTGTGACCACTGCTGTCCACTAGGGGCTCCTCTCTCAGGGCCTCCATACACTGGGCCACGGTTCCCCAAAGAGGAAGGAGGAAGGTAGGTAGAGAAGA
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Task1_train_6744
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The gene ATRIP, ATRIP-TREX1, TREX1 (ATR interacting protein| ATRIP-TREX1 readthrough| three prime repair exonuclease 1) is located on Chromosome 3, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
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GGAGGTGAGTGGGTAGGGGCCAACAGCTGGCAGCTCTGGTGGTAAGGGGGCCCCGTGCAAGGACTGTAGGCCCCACTGCAAACCCCCTCACGTGAGGTGGCTAGGCTGAGCGGATTGTTAGGGTGCAGGCCATGGTGGCACCAGGCCTCAGTCTGCACCCCCCCTCTCTCAGGTGGTCAGAGCGCTCACGGTGATGTTGCACAGACAGTGGCTGACAGTGCGGAGGGCAGGGGGACCCCCAAGGACCGACCAGCAGAGGCGGACAGTGCGCTGTCTGCGGGACACGGTGCTGCTGCTGCACGGCCTATCGCAGAAGGACAAGCTCTTCATGATGCACTGCGTGGAGGTCCTGCATCAGTTTGACCAGGTGATGCCGGGGGTCAGCATGCTCATCCGAGGGCTTCCTGATGTGACGGACTGTGAAGGTAAGCCTGCCAGAGGCCATCCTGCCCAGCCCCCATGGCTTCTTCCAGAGGTTCCCCAACAAGTCAGATTCCTGGGTGTCCCCTCAGCAGGCCCCCGCCCACTGCAGCCTGTTCCAGCACTGGGGCCATTTTCTTTTATCTTCCTGCCTCAGTTCTTCTCCAAGCATATTGGGATGCCTTTTGCATCTATCTGTTGAGTGTGCCTGGCAGAGCCACGGTTTTTCCAGAAATAGCCGTGTCTGAATTGCCTTTGTATCACTTTGTTTGCAGTAGCTGAGGGAGCAGGGCCTGGGTGTGGAAGGGACTGGTTAGTTCCTGCGGACGTTGGGGGAGGAGAGGTGGGACCTGCCCTAGGCCCTGGCACCTTTGGGCCCTCACCAGGAACCTCTCCTTTTTGTCTCAGAGGCAGCCCTGGATGACCTCTGTGCCGCGGAAACCGATGTGGAAGACCCCGAGGTGGAGTGTGGCTGAGGCCCTGAGTGTCCAGCCACATGGTGGCACCAGCACCACTCCTTTCCTTACCACATCAACTGATTAAAGCAGTGACCAGCAGGAACTGCCCAGAGAACTGGCTGGCCTTGTTTCCTGAGTCTGATCTGTTTGGCGGAGTGGGAGGGGTGGAGCAGGACCCGGACCCTGAGTGGCTGGGATCCTTCTTCCTGTCCCTGGCTGTTGCTGAGCCCGTCCCCATGGTAACTGATCTGCCTTGAGGAAGGAGCCCTGCCCTGCCTGTGGAATTGTCCTGAGTCATTGCTTTGGGCTGGGGCCATGGGAAGAAACCATTGTGTGGCAGGGAAGGAGGTGGCTCTTGGCCCAGGCCTAAACCAGGAAAGCCTGGGAAACTGGGACCCACAGGTGGGCATGAAAGGGCCGCAGCAGGGGCTCCCAGCAGTGTGTAAGACCGGGAGCTGGTCTGGCACCACTGCCCTGGTCCTTCCAGCTGCCTGTCACTGGTATGATGGCCCCGGTGCATTGTGCCACCAGCAGGCCACAGCTGTGGATCTTGGAAGGCCTCTGGGGTCCCCCGGGAGCAGGGGAGTGGGTGTGGGGGGGAACGGATGGTGGTGAGAGGGACAGACCAGGCAGGCTGACGAGCAGGGCGGGCCTGGCTCACGTGGGCCTGTAGGCGGGCCCACGCCAAGTTTCACTTCCCGCCACTGCTGCCAGCGAGAGCCGCGGGAGAGTGTGCAGCCGAGTCACTACTGCCTGCCTGCCTGCCTGCTACGGTGAGTGTGGCCCCCACAATGGGATGGCGCAGGGCAGGAGGGCCATGGGTTCCCCCACCCCAGACTAAGGGGGCACTAGGGGAGGGGCCGAGTCATGTGAAGAGGGAGACCCTCTCAGACAGTCGAATGTGCTGGTCCCACTAAGGAAACCACCTCACCCTCTCCAACTTCCTGCCTGAAAATGGGCCCTGGAGCTCGCAGACAGGGCAGGATTGTGCAGGGAAGGCCTGAGATGTGCTTCTGCCCACCCCCTACCCCACTCCCTCCCCTTCGGATCTTAACACTGGGCACTCACACACCCACCCCATGCTCCTCTCCAGGCTCAGCAGCAGGTACGTACCCAACCATGGGCTCGCAGGCCCTGCCCCCGGGGCCCATGCAGACCCTCATCTTTTTCGACATGGAGGCCACTGGCTTGCCCTTCTCCCAGCCCAAGGTCACGGAGCTGTGCCTGCTGGCTGTCCACAGATGTGCCCTGGAGAGCCCCCCCACCTCTCAGGGGCCACCTCCCACAGTTCCTCCACCACCGCGTGTGGTAGACAAGCTCTCCCTGTGTGTGGCTCCGGGGAAGGCCTGCAGCCCTGCAGCCAGCGAGATCACAGGTCTGAGCACAGCTGTGCTGGCAGCGCATGGGCGTCAATGTTTTGATGACAACCTGGCCAACCTGCTCCTAGCCTTCCTGCGGCGCCAGCCACAGCCCTGGTGCCTGGTGGCACACAATGGTGACCGCTACGACTTCCCCCTGCTCCAAGCAGAGCTGGCTATGCTGGGCCTCACCAGTGCTCTGGATGGTGCCTTCTGTGTGGATAGCATCACTGCGCTGAAGGCCCTGGAGCGAGCAAGCAGCCCCTCAGAACACGGCCCAAGGAAGAGCTATAGCCTAGGCAGCATCTACACTCGCCTGTATGGGCAGTCCCCTCCAGACTCGCACACGGCTGAGGGTGATGTCCTGGCCCTGCTCAGCATCTGTCAGTGGAGACCACAGGCCCTGCTGCGGTGGGTGGATGCTCACGCCAGGCCTTTCGGCACCATCAGGCCCATGTATGGGGTCACAGCCTCTGCTAGGACCAAGCCAAGACCATCTGCTGTCACAACCACTGCACACCTGGCCACAACCAGGAACACTAGTCCCAGCCTTGGAGAGAGCAGGGGTACCAAGGATCTTCCTCCAGTGAAGGACCCTGGAGCCCTATCCAGGGAGGGGCTGCTGGCCCCACTGGGTCTGCTGGCCATCCTGACCTTGGCAGTAGCCACACTGTATGGACTATCCCTGGCCACACCTGGGGAGTAGGCCAAGAAGGAAAATCTGACGAATAAAGACCCCCGCTGCCCCATAGCACTGAGTGGTCAATTGGCTCCTACCCTTCTTGGCAGCACAGACCTCTGCCCACACCCAGGGACCTGGGGAGGAGGGCACAGTGTTTGTCCCTCACTTTCCCTAGCAGGATGGTCAACTATCTGAGCCCAGTAAAAGTAGGGAAAACACAGAGAAGCCCAAATGGATGGAAAGAGTACAGCCTGATTCCAATTCCAGCAGCCGAGGCCAGGAAGAAAGGGGGCAGCAGCTCCAAACGATTGCATTTATTATAAACAAGTGTACAGACCCTAGACTCAGAAACACAACAGATTTGAGCTAAGACAGCTCTGGTGAAACAGTAATAGAGGGAGGAGGAACACGAGGTATTCATGTCTGGGCCAGAGCTGCCATCCAGGGCCCCACACCCCACCTTTGGTCCAGATGGCCCATTGGCCCAGGTGTCCCTGCTGCCAGAACACCGTGGACTGGGGTACAGGAGTTGTTGCATATTCCATGAGGCTGGTGTCGGGAAGCAGGGACTCACAGTTGCCAGGTTGTCCATCTCTGAGCCAATTTCCCTCCACAACCCAGGGGTTTCAGTCTCATATCAACTATCATGTTTGAAACAGAAAACAGGCAAAATGTTTGGCTAAAATAAAATGAAAACACTGCAGGGAAGAGAACTGAGTGTGCTGGTGGACAGGAGCCCTGCTCACCTGTGGGAAGGGCAGGGCCAGCAAGGGCAGCAGAGCTCCCTGGGGGCAGCTAGGCTGTGTGTGCATGTGGCCCTCCAGCTGGTCCCAGGGGAGATGCGGGGACAGGGGACAGTCCAGGCAGACAGGTACAGCTGAGTAGGGCTCTGCCTGAGGTGTTCTGGCATCAGGAGGCTGCCTGATCCCCAACAGGCATGACAGGCTCCAGGGAGCAATGGGACATCTGCCCAAAGGATCAAAGTCCAACTTGGCCAGATCCCAAGCTTCGCCTGCATCATGTCCCTGGCTCTGCAACGGGTACCCCCAACTCCGGGGACGAGCCATGGCCTCAAGCAGCAGCTGGCTACGCTGCCGAAACCAGGACACATCTGCATCACACAGAAAGCTGCGCCACCCTGGTGTGACAGGCCCTACTTGGTCACCCTAGGGTAAGCT
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GGAGGTGAGTGGGTAGGGGCCAACAGCTGGCAGCTCTGGTGGTAAGGGGGCCCCGTGCAAGGACTGTAGGCCCCACTGCAAACCCCCTCACGTGAGGTGGCTAGGCTGAGCGGATTGTTAGGGTGCAGGCCATGGTGGCACCAGGCCTCAGTCTGCACCCCCCCTCTCTCAGGTGGTCAGAGCGCTCACGGTGATGTTGCACAGACAGTGGCTGACAGTGCGGAGGGCAGGGGGACCCCCAAGGACCGACCAGCAGAGGCGGACAGTGCGCTGTCTGCGGGACACGGTGCTGCTGCTGCACGGCCTATCGCAGAAGGACAAGCTCTTCATGATGCACTGCGTGGAGGTCCTGCATCAGTTTGACCAGGTGATGCCGGGGGTCAGCATGCTCATCCGAGGGCTTCCTGATGTGACGGACTGTGAAGGTAAGCCTGCCAGAGGCCATCCTGCCCAGCCCCCATGGCTTCTTCCAGAGGTTCCCCAACAAGTCAGATTCCTGGGTGTCCCCTCAGCAGGCCCCCGCCCACTGCAGCCTGTTCCAGCACTGGGGCCATTTTCTTTTATCTTCCTGCCTCAGTTCTTCTCCAAGCATATTGGGATGCCTTTTGCATCTATCTGTTGAGTGTGCCTGGCAGAGCCACGGTTTTTCCAGAAATAGCCGTGTCTGAATTGCCTTTGTATCACTTTGTTTGCAGTAGCTGAGGGAGCAGGGCCTGGGTGTGGAAGGGACTGGTTAGTTCCTGCGGACGTTGGGGGAGGAGAGGTGGGACCTGCCCTAGGCCCTGGCACCTTTGGGCCCTCACCAGGAACCTCTCCTTTTTGTCTCAGAGGCAGCCCTGGATGACCTCTGTGCCGCGGAAACCGATGTGGAAGACCCCGAGGTGGAGTGTGGCTGAGGCCCTGAGTGTCCAGCCACATGGTGGCACCAGCACCACTCCTTTCCTTACCACATCAACTGATTAAAGCAGTGACCAGCAGGAACTGCCCAGAGAACTGGCTGGCCTTGTTTCCTGAGTCTGATCTGTTTGGCGGAGTGGGAGGGGTGGAGCAGGACCCGGACCCTGAGTGGCTGGGATCCTTCTTCCTGTCCCTGGCTGTTGCTGAGCCCGTCCCCATGGTAACTGATCTGCCTTGAGGAAGGAGCCCTGCCCTGCCTGTGGAATTGTCCTGAGTCATTGCTTTGGGCTGGGGCCATGGGAAGAAACCATTGTGTGGCAGGGAAGGAGGTGGCTCTTGGCCCAGGCCTAAACCAGGAAAGCCTGGGAAACTGGGACCCACAGGTGGGCATGAAAGGGCCGCAGCAGGGGCTCCCAGCAGTGTGTAAGACCGGGAGCTGGTCTGGCACCACTGCCCTGGTCCTTCCAGCTGCCTGTCACTGGTATGATGGCCCCGGTGCATTGTGCCACCAGCAGGCCACAGCTGTGGATCTTGGAAGGCCTCTGGGGTCCCCCGGGAGCAGGGGAGTGGGTGTGGGGGGGAACGGATGGTGGTGAGAGGGACAGACCAGGCAGGCTGACGAGCAGGGCGGGCCTGGCTCACGTGGGCCTGTAGGCGGGCCCACGCCAAGTTTCACTTCCCGCCACTGCTGCCAGCGAGAGCCGCGGGAGAGTGTGCAGCCGAGTCACTACTGCCTGCCTGCCTGCCTGCTACGGTGAGTGTGGCCCCCACAATGGGATGGCGCAGGGCAGGAGGGCCATGGGTTCCCCCACCCCAGACTAAGGGGGCACTAGGGGAGGGGCCGAGTCATGTGAAGAGGGAGACCCTCTCAGACAGTCGAATGTGCTGGTCCCACTAAGGAAACCACCTCACCCTCTCCAACTTCCTGCCTGAAAATGGGCCCTGGAGCTCGCAGACAGGGCAGGATTGTGCAGGGAAGGCCTGAGATGTGCTTCTGCCCACCCCCTACCCCACTCCCTCCCCTTCGGATCTTAACACTGGGCACTCACACACCCACCCCATGCTCCTCTCCAGGCTCAGCAGCAGGTACGTACCCAACCATGGGCTCGCAGGCCCTGCCCCCGGGGCCCATGCAGACCCTCATCTTTTTCAACATGGAGGCCACTGGCTTGCCCTTCTCCCAGCCCAAGGTCACGGAGCTGTGCCTGCTGGCTGTCCACAGATGTGCCCTGGAGAGCCCCCCCACCTCTCAGGGGCCACCTCCCACAGTTCCTCCACCACCGCGTGTGGTAGACAAGCTCTCCCTGTGTGTGGCTCCGGGGAAGGCCTGCAGCCCTGCAGCCAGCGAGATCACAGGTCTGAGCACAGCTGTGCTGGCAGCGCATGGGCGTCAATGTTTTGATGACAACCTGGCCAACCTGCTCCTAGCCTTCCTGCGGCGCCAGCCACAGCCCTGGTGCCTGGTGGCACACAATGGTGACCGCTACGACTTCCCCCTGCTCCAAGCAGAGCTGGCTATGCTGGGCCTCACCAGTGCTCTGGATGGTGCCTTCTGTGTGGATAGCATCACTGCGCTGAAGGCCCTGGAGCGAGCAAGCAGCCCCTCAGAACACGGCCCAAGGAAGAGCTATAGCCTAGGCAGCATCTACACTCGCCTGTATGGGCAGTCCCCTCCAGACTCGCACACGGCTGAGGGTGATGTCCTGGCCCTGCTCAGCATCTGTCAGTGGAGACCACAGGCCCTGCTGCGGTGGGTGGATGCTCACGCCAGGCCTTTCGGCACCATCAGGCCCATGTATGGGGTCACAGCCTCTGCTAGGACCAAGCCAAGACCATCTGCTGTCACAACCACTGCACACCTGGCCACAACCAGGAACACTAGTCCCAGCCTTGGAGAGAGCAGGGGTACCAAGGATCTTCCTCCAGTGAAGGACCCTGGAGCCCTATCCAGGGAGGGGCTGCTGGCCCCACTGGGTCTGCTGGCCATCCTGACCTTGGCAGTAGCCACACTGTATGGACTATCCCTGGCCACACCTGGGGAGTAGGCCAAGAAGGAAAATCTGACGAATAAAGACCCCCGCTGCCCCATAGCACTGAGTGGTCAATTGGCTCCTACCCTTCTTGGCAGCACAGACCTCTGCCCACACCCAGGGACCTGGGGAGGAGGGCACAGTGTTTGTCCCTCACTTTCCCTAGCAGGATGGTCAACTATCTGAGCCCAGTAAAAGTAGGGAAAACACAGAGAAGCCCAAATGGATGGAAAGAGTACAGCCTGATTCCAATTCCAGCAGCCGAGGCCAGGAAGAAAGGGGGCAGCAGCTCCAAACGATTGCATTTATTATAAACAAGTGTACAGACCCTAGACTCAGAAACACAACAGATTTGAGCTAAGACAGCTCTGGTGAAACAGTAATAGAGGGAGGAGGAACACGAGGTATTCATGTCTGGGCCAGAGCTGCCATCCAGGGCCCCACACCCCACCTTTGGTCCAGATGGCCCATTGGCCCAGGTGTCCCTGCTGCCAGAACACCGTGGACTGGGGTACAGGAGTTGTTGCATATTCCATGAGGCTGGTGTCGGGAAGCAGGGACTCACAGTTGCCAGGTTGTCCATCTCTGAGCCAATTTCCCTCCACAACCCAGGGGTTTCAGTCTCATATCAACTATCATGTTTGAAACAGAAAACAGGCAAAATGTTTGGCTAAAATAAAATGAAAACACTGCAGGGAAGAGAACTGAGTGTGCTGGTGGACAGGAGCCCTGCTCACCTGTGGGAAGGGCAGGGCCAGCAAGGGCAGCAGAGCTCCCTGGGGGCAGCTAGGCTGTGTGTGCATGTGGCCCTCCAGCTGGTCCCAGGGGAGATGCGGGGACAGGGGACAGTCCAGGCAGACAGGTACAGCTGAGTAGGGCTCTGCCTGAGGTGTTCTGGCATCAGGAGGCTGCCTGATCCCCAACAGGCATGACAGGCTCCAGGGAGCAATGGGACATCTGCCCAAAGGATCAAAGTCCAACTTGGCCAGATCCCAAGCTTCGCCTGCATCATGTCCCTGGCTCTGCAACGGGTACCCCCAACTCCGGGGACGAGCCATGGCCTCAAGCAGCAGCTGGCTACGCTGCCGAAACCAGGACACATCTGCATCACACAGAAAGCTGCGCCACCCTGGTGTGACAGGCCCTACTTGGTCACCCTAGGGTAAGCT
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Task1_train_6745
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This genomic variant is located on Chromosome 3, within the ATRIP, ATRIP-TREX1, TREX1 (ATR interacting protein| ATRIP-TREX1 readthrough| three prime repair exonuclease 1) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Chilblain lupus 1
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GGAGGTGAGTGGGTAGGGGCCAACAGCTGGCAGCTCTGGTGGTAAGGGGGCCCCGTGCAAGGACTGTAGGCCCCACTGCAAACCCCCTCACGTGAGGTGGCTAGGCTGAGCGGATTGTTAGGGTGCAGGCCATGGTGGCACCAGGCCTCAGTCTGCACCCCCCCTCTCTCAGGTGGTCAGAGCGCTCACGGTGATGTTGCACAGACAGTGGCTGACAGTGCGGAGGGCAGGGGGACCCCCAAGGACCGACCAGCAGAGGCGGACAGTGCGCTGTCTGCGGGACACGGTGCTGCTGCTGCACGGCCTATCGCAGAAGGACAAGCTCTTCATGATGCACTGCGTGGAGGTCCTGCATCAGTTTGACCAGGTGATGCCGGGGGTCAGCATGCTCATCCGAGGGCTTCCTGATGTGACGGACTGTGAAGGTAAGCCTGCCAGAGGCCATCCTGCCCAGCCCCCATGGCTTCTTCCAGAGGTTCCCCAACAAGTCAGATTCCTGGGTGTCCCCTCAGCAGGCCCCCGCCCACTGCAGCCTGTTCCAGCACTGGGGCCATTTTCTTTTATCTTCCTGCCTCAGTTCTTCTCCAAGCATATTGGGATGCCTTTTGCATCTATCTGTTGAGTGTGCCTGGCAGAGCCACGGTTTTTCCAGAAATAGCCGTGTCTGAATTGCCTTTGTATCACTTTGTTTGCAGTAGCTGAGGGAGCAGGGCCTGGGTGTGGAAGGGACTGGTTAGTTCCTGCGGACGTTGGGGGAGGAGAGGTGGGACCTGCCCTAGGCCCTGGCACCTTTGGGCCCTCACCAGGAACCTCTCCTTTTTGTCTCAGAGGCAGCCCTGGATGACCTCTGTGCCGCGGAAACCGATGTGGAAGACCCCGAGGTGGAGTGTGGCTGAGGCCCTGAGTGTCCAGCCACATGGTGGCACCAGCACCACTCCTTTCCTTACCACATCAACTGATTAAAGCAGTGACCAGCAGGAACTGCCCAGAGAACTGGCTGGCCTTGTTTCCTGAGTCTGATCTGTTTGGCGGAGTGGGAGGGGTGGAGCAGGACCCGGACCCTGAGTGGCTGGGATCCTTCTTCCTGTCCCTGGCTGTTGCTGAGCCCGTCCCCATGGTAACTGATCTGCCTTGAGGAAGGAGCCCTGCCCTGCCTGTGGAATTGTCCTGAGTCATTGCTTTGGGCTGGGGCCATGGGAAGAAACCATTGTGTGGCAGGGAAGGAGGTGGCTCTTGGCCCAGGCCTAAACCAGGAAAGCCTGGGAAACTGGGACCCACAGGTGGGCATGAAAGGGCCGCAGCAGGGGCTCCCAGCAGTGTGTAAGACCGGGAGCTGGTCTGGCACCACTGCCCTGGTCCTTCCAGCTGCCTGTCACTGGTATGATGGCCCCGGTGCATTGTGCCACCAGCAGGCCACAGCTGTGGATCTTGGAAGGCCTCTGGGGTCCCCCGGGAGCAGGGGAGTGGGTGTGGGGGGGAACGGATGGTGGTGAGAGGGACAGACCAGGCAGGCTGACGAGCAGGGCGGGCCTGGCTCACGTGGGCCTGTAGGCGGGCCCACGCCAAGTTTCACTTCCCGCCACTGCTGCCAGCGAGAGCCGCGGGAGAGTGTGCAGCCGAGTCACTACTGCCTGCCTGCCTGCCTGCTACGGTGAGTGTGGCCCCCACAATGGGATGGCGCAGGGCAGGAGGGCCATGGGTTCCCCCACCCCAGACTAAGGGGGCACTAGGGGAGGGGCCGAGTCATGTGAAGAGGGAGACCCTCTCAGACAGTCGAATGTGCTGGTCCCACTAAGGAAACCACCTCACCCTCTCCAACTTCCTGCCTGAAAATGGGCCCTGGAGCTCGCAGACAGGGCAGGATTGTGCAGGGAAGGCCTGAGATGTGCTTCTGCCCACCCCCTACCCCACTCCCTCCCCTTCGGATCTTAACACTGGGCACTCACACACCCACCCCATGCTCCTCTCCAGGCTCAGCAGCAGGTACGTACCCAACCATGGGCTCGCAGGCCCTGCCCCCGGGGCCCATGCAGACCCTCATCTTTTTCGACATGGAGGCCACTGGCTTGCCCTTCTCCCAGCCCAAGGTCACGGAGCTGTGCCTGCTGGCTGTCCACAGATGTGCCCTGGAGAGCCCCCCCACCTCTCAGGGGCCACCTCCCACAGTTCCTCCACCACCGCGTGTGGTAGACAAGCTCTCCCTGTGTGTGGCTCCGGGGAAGGCCTGCAGCCCTGCAGCCAGCGAGATCACAGGTCTGAGCACAGCTGTGCTGGCAGCGCATGGGCGTCAATGTTTTGATGACAACCTGGCCAACCTGCTCCTAGCCTTCCTGCGGCGCCAGCCACAGCCCTGGTGCCTGGTGGCACACAATGGTGACCGCTACGACTTCCCCCTGCTCCAAGCAGAGCTGGCTATGCTGGGCCTCACCAGTGCTCTGGATGGTGCCTTCTGTGTGGATAGCATCACTGCGCTGAAGGCCCTGGAGCGAGCAAGCAGCCCCTCAGAACACGGCCCAAGGAAGAGCTATAGCCTAGGCAGCATCTACACTCGCCTGTATGGGCAGTCCCCTCCAGACTCGCACACGGCTGAGGGTGATGTCCTGGCCCTGCTCAGCATCTGTCAGTGGAGACCACAGGCCCTGCTGCGGTGGGTGGATGCTCACGCCAGGCCTTTCGGCACCATCAGGCCCATGTATGGGGTCACAGCCTCTGCTAGGACCAAGCCAAGACCATCTGCTGTCACAACCACTGCACACCTGGCCACAACCAGGAACACTAGTCCCAGCCTTGGAGAGAGCAGGGGTACCAAGGATCTTCCTCCAGTGAAGGACCCTGGAGCCCTATCCAGGGAGGGGCTGCTGGCCCCACTGGGTCTGCTGGCCATCCTGACCTTGGCAGTAGCCACACTGTATGGACTATCCCTGGCCACACCTGGGGAGTAGGCCAAGAAGGAAAATCTGACGAATAAAGACCCCCGCTGCCCCATAGCACTGAGTGGTCAATTGGCTCCTACCCTTCTTGGCAGCACAGACCTCTGCCCACACCCAGGGACCTGGGGAGGAGGGCACAGTGTTTGTCCCTCACTTTCCCTAGCAGGATGGTCAACTATCTGAGCCCAGTAAAAGTAGGGAAAACACAGAGAAGCCCAAATGGATGGAAAGAGTACAGCCTGATTCCAATTCCAGCAGCCGAGGCCAGGAAGAAAGGGGGCAGCAGCTCCAAACGATTGCATTTATTATAAACAAGTGTACAGACCCTAGACTCAGAAACACAACAGATTTGAGCTAAGACAGCTCTGGTGAAACAGTAATAGAGGGAGGAGGAACACGAGGTATTCATGTCTGGGCCAGAGCTGCCATCCAGGGCCCCACACCCCACCTTTGGTCCAGATGGCCCATTGGCCCAGGTGTCCCTGCTGCCAGAACACCGTGGACTGGGGTACAGGAGTTGTTGCATATTCCATGAGGCTGGTGTCGGGAAGCAGGGACTCACAGTTGCCAGGTTGTCCATCTCTGAGCCAATTTCCCTCCACAACCCAGGGGTTTCAGTCTCATATCAACTATCATGTTTGAAACAGAAAACAGGCAAAATGTTTGGCTAAAATAAAATGAAAACACTGCAGGGAAGAGAACTGAGTGTGCTGGTGGACAGGAGCCCTGCTCACCTGTGGGAAGGGCAGGGCCAGCAAGGGCAGCAGAGCTCCCTGGGGGCAGCTAGGCTGTGTGTGCATGTGGCCCTCCAGCTGGTCCCAGGGGAGATGCGGGGACAGGGGACAGTCCAGGCAGACAGGTACAGCTGAGTAGGGCTCTGCCTGAGGTGTTCTGGCATCAGGAGGCTGCCTGATCCCCAACAGGCATGACAGGCTCCAGGGAGCAATGGGACATCTGCCCAAAGGATCAAAGTCCAACTTGGCCAGATCCCAAGCTTCGCCTGCATCATGTCCCTGGCTCTGCAACGGGTACCCCCAACTCCGGGGACGAGCCATGGCCTCAAGCAGCAGCTGGCTACGCTGCCGAAACCAGGACACATCTGCATCACACAGAAAGCTGCGCCACCCTGGTGTGACAGGCCCTACTTGGTCACCCTAGGGTAAGCT
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GGAGGTGAGTGGGTAGGGGCCAACAGCTGGCAGCTCTGGTGGTAAGGGGGCCCCGTGCAAGGACTGTAGGCCCCACTGCAAACCCCCTCACGTGAGGTGGCTAGGCTGAGCGGATTGTTAGGGTGCAGGCCATGGTGGCACCAGGCCTCAGTCTGCACCCCCCCTCTCTCAGGTGGTCAGAGCGCTCACGGTGATGTTGCACAGACAGTGGCTGACAGTGCGGAGGGCAGGGGGACCCCCAAGGACCGACCAGCAGAGGCGGACAGTGCGCTGTCTGCGGGACACGGTGCTGCTGCTGCACGGCCTATCGCAGAAGGACAAGCTCTTCATGATGCACTGCGTGGAGGTCCTGCATCAGTTTGACCAGGTGATGCCGGGGGTCAGCATGCTCATCCGAGGGCTTCCTGATGTGACGGACTGTGAAGGTAAGCCTGCCAGAGGCCATCCTGCCCAGCCCCCATGGCTTCTTCCAGAGGTTCCCCAACAAGTCAGATTCCTGGGTGTCCCCTCAGCAGGCCCCCGCCCACTGCAGCCTGTTCCAGCACTGGGGCCATTTTCTTTTATCTTCCTGCCTCAGTTCTTCTCCAAGCATATTGGGATGCCTTTTGCATCTATCTGTTGAGTGTGCCTGGCAGAGCCACGGTTTTTCCAGAAATAGCCGTGTCTGAATTGCCTTTGTATCACTTTGTTTGCAGTAGCTGAGGGAGCAGGGCCTGGGTGTGGAAGGGACTGGTTAGTTCCTGCGGACGTTGGGGGAGGAGAGGTGGGACCTGCCCTAGGCCCTGGCACCTTTGGGCCCTCACCAGGAACCTCTCCTTTTTGTCTCAGAGGCAGCCCTGGATGACCTCTGTGCCGCGGAAACCGATGTGGAAGACCCCGAGGTGGAGTGTGGCTGAGGCCCTGAGTGTCCAGCCACATGGTGGCACCAGCACCACTCCTTTCCTTACCACATCAACTGATTAAAGCAGTGACCAGCAGGAACTGCCCAGAGAACTGGCTGGCCTTGTTTCCTGAGTCTGATCTGTTTGGCGGAGTGGGAGGGGTGGAGCAGGACCCGGACCCTGAGTGGCTGGGATCCTTCTTCCTGTCCCTGGCTGTTGCTGAGCCCGTCCCCATGGTAACTGATCTGCCTTGAGGAAGGAGCCCTGCCCTGCCTGTGGAATTGTCCTGAGTCATTGCTTTGGGCTGGGGCCATGGGAAGAAACCATTGTGTGGCAGGGAAGGAGGTGGCTCTTGGCCCAGGCCTAAACCAGGAAAGCCTGGGAAACTGGGACCCACAGGTGGGCATGAAAGGGCCGCAGCAGGGGCTCCCAGCAGTGTGTAAGACCGGGAGCTGGTCTGGCACCACTGCCCTGGTCCTTCCAGCTGCCTGTCACTGGTATGATGGCCCCGGTGCATTGTGCCACCAGCAGGCCACAGCTGTGGATCTTGGAAGGCCTCTGGGGTCCCCCGGGAGCAGGGGAGTGGGTGTGGGGGGGAACGGATGGTGGTGAGAGGGACAGACCAGGCAGGCTGACGAGCAGGGCGGGCCTGGCTCACGTGGGCCTGTAGGCGGGCCCACGCCAAGTTTCACTTCCCGCCACTGCTGCCAGCGAGAGCCGCGGGAGAGTGTGCAGCCGAGTCACTACTGCCTGCCTGCCTGCCTGCTACGGTGAGTGTGGCCCCCACAATGGGATGGCGCAGGGCAGGAGGGCCATGGGTTCCCCCACCCCAGACTAAGGGGGCACTAGGGGAGGGGCCGAGTCATGTGAAGAGGGAGACCCTCTCAGACAGTCGAATGTGCTGGTCCCACTAAGGAAACCACCTCACCCTCTCCAACTTCCTGCCTGAAAATGGGCCCTGGAGCTCGCAGACAGGGCAGGATTGTGCAGGGAAGGCCTGAGATGTGCTTCTGCCCACCCCCTACCCCACTCCCTCCCCTTCGGATCTTAACACTGGGCACTCACACACCCACCCCATGCTCCTCTCCAGGCTCAGCAGCAGGTACGTACCCAACCATGGGCTCGCAGGCCCTGCCCCCGGGGCCCATGCAGACCCTCATCTTTTTCAACATGGAGGCCACTGGCTTGCCCTTCTCCCAGCCCAAGGTCACGGAGCTGTGCCTGCTGGCTGTCCACAGATGTGCCCTGGAGAGCCCCCCCACCTCTCAGGGGCCACCTCCCACAGTTCCTCCACCACCGCGTGTGGTAGACAAGCTCTCCCTGTGTGTGGCTCCGGGGAAGGCCTGCAGCCCTGCAGCCAGCGAGATCACAGGTCTGAGCACAGCTGTGCTGGCAGCGCATGGGCGTCAATGTTTTGATGACAACCTGGCCAACCTGCTCCTAGCCTTCCTGCGGCGCCAGCCACAGCCCTGGTGCCTGGTGGCACACAATGGTGACCGCTACGACTTCCCCCTGCTCCAAGCAGAGCTGGCTATGCTGGGCCTCACCAGTGCTCTGGATGGTGCCTTCTGTGTGGATAGCATCACTGCGCTGAAGGCCCTGGAGCGAGCAAGCAGCCCCTCAGAACACGGCCCAAGGAAGAGCTATAGCCTAGGCAGCATCTACACTCGCCTGTATGGGCAGTCCCCTCCAGACTCGCACACGGCTGAGGGTGATGTCCTGGCCCTGCTCAGCATCTGTCAGTGGAGACCACAGGCCCTGCTGCGGTGGGTGGATGCTCACGCCAGGCCTTTCGGCACCATCAGGCCCATGTATGGGGTCACAGCCTCTGCTAGGACCAAGCCAAGACCATCTGCTGTCACAACCACTGCACACCTGGCCACAACCAGGAACACTAGTCCCAGCCTTGGAGAGAGCAGGGGTACCAAGGATCTTCCTCCAGTGAAGGACCCTGGAGCCCTATCCAGGGAGGGGCTGCTGGCCCCACTGGGTCTGCTGGCCATCCTGACCTTGGCAGTAGCCACACTGTATGGACTATCCCTGGCCACACCTGGGGAGTAGGCCAAGAAGGAAAATCTGACGAATAAAGACCCCCGCTGCCCCATAGCACTGAGTGGTCAATTGGCTCCTACCCTTCTTGGCAGCACAGACCTCTGCCCACACCCAGGGACCTGGGGAGGAGGGCACAGTGTTTGTCCCTCACTTTCCCTAGCAGGATGGTCAACTATCTGAGCCCAGTAAAAGTAGGGAAAACACAGAGAAGCCCAAATGGATGGAAAGAGTACAGCCTGATTCCAATTCCAGCAGCCGAGGCCAGGAAGAAAGGGGGCAGCAGCTCCAAACGATTGCATTTATTATAAACAAGTGTACAGACCCTAGACTCAGAAACACAACAGATTTGAGCTAAGACAGCTCTGGTGAAACAGTAATAGAGGGAGGAGGAACACGAGGTATTCATGTCTGGGCCAGAGCTGCCATCCAGGGCCCCACACCCCACCTTTGGTCCAGATGGCCCATTGGCCCAGGTGTCCCTGCTGCCAGAACACCGTGGACTGGGGTACAGGAGTTGTTGCATATTCCATGAGGCTGGTGTCGGGAAGCAGGGACTCACAGTTGCCAGGTTGTCCATCTCTGAGCCAATTTCCCTCCACAACCCAGGGGTTTCAGTCTCATATCAACTATCATGTTTGAAACAGAAAACAGGCAAAATGTTTGGCTAAAATAAAATGAAAACACTGCAGGGAAGAGAACTGAGTGTGCTGGTGGACAGGAGCCCTGCTCACCTGTGGGAAGGGCAGGGCCAGCAAGGGCAGCAGAGCTCCCTGGGGGCAGCTAGGCTGTGTGTGCATGTGGCCCTCCAGCTGGTCCCAGGGGAGATGCGGGGACAGGGGACAGTCCAGGCAGACAGGTACAGCTGAGTAGGGCTCTGCCTGAGGTGTTCTGGCATCAGGAGGCTGCCTGATCCCCAACAGGCATGACAGGCTCCAGGGAGCAATGGGACATCTGCCCAAAGGATCAAAGTCCAACTTGGCCAGATCCCAAGCTTCGCCTGCATCATGTCCCTGGCTCTGCAACGGGTACCCCCAACTCCGGGGACGAGCCATGGCCTCAAGCAGCAGCTGGCTACGCTGCCGAAACCAGGACACATCTGCATCACACAGAAAGCTGCGCCACCCTGGTGTGACAGGCCCTACTTGGTCACCCTAGGGTAAGCT
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Task1_train_6746
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This variant affects the gene ATRIP, ATRIP-TREX1, TREX1 (ATR interacting protein| ATRIP-TREX1 readthrough| three prime repair exonuclease 1) found on Chromosome 3. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Aicardi-Goutieres syndrome 1
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GGAGGTGAGTGGGTAGGGGCCAACAGCTGGCAGCTCTGGTGGTAAGGGGGCCCCGTGCAAGGACTGTAGGCCCCACTGCAAACCCCCTCACGTGAGGTGGCTAGGCTGAGCGGATTGTTAGGGTGCAGGCCATGGTGGCACCAGGCCTCAGTCTGCACCCCCCCTCTCTCAGGTGGTCAGAGCGCTCACGGTGATGTTGCACAGACAGTGGCTGACAGTGCGGAGGGCAGGGGGACCCCCAAGGACCGACCAGCAGAGGCGGACAGTGCGCTGTCTGCGGGACACGGTGCTGCTGCTGCACGGCCTATCGCAGAAGGACAAGCTCTTCATGATGCACTGCGTGGAGGTCCTGCATCAGTTTGACCAGGTGATGCCGGGGGTCAGCATGCTCATCCGAGGGCTTCCTGATGTGACGGACTGTGAAGGTAAGCCTGCCAGAGGCCATCCTGCCCAGCCCCCATGGCTTCTTCCAGAGGTTCCCCAACAAGTCAGATTCCTGGGTGTCCCCTCAGCAGGCCCCCGCCCACTGCAGCCTGTTCCAGCACTGGGGCCATTTTCTTTTATCTTCCTGCCTCAGTTCTTCTCCAAGCATATTGGGATGCCTTTTGCATCTATCTGTTGAGTGTGCCTGGCAGAGCCACGGTTTTTCCAGAAATAGCCGTGTCTGAATTGCCTTTGTATCACTTTGTTTGCAGTAGCTGAGGGAGCAGGGCCTGGGTGTGGAAGGGACTGGTTAGTTCCTGCGGACGTTGGGGGAGGAGAGGTGGGACCTGCCCTAGGCCCTGGCACCTTTGGGCCCTCACCAGGAACCTCTCCTTTTTGTCTCAGAGGCAGCCCTGGATGACCTCTGTGCCGCGGAAACCGATGTGGAAGACCCCGAGGTGGAGTGTGGCTGAGGCCCTGAGTGTCCAGCCACATGGTGGCACCAGCACCACTCCTTTCCTTACCACATCAACTGATTAAAGCAGTGACCAGCAGGAACTGCCCAGAGAACTGGCTGGCCTTGTTTCCTGAGTCTGATCTGTTTGGCGGAGTGGGAGGGGTGGAGCAGGACCCGGACCCTGAGTGGCTGGGATCCTTCTTCCTGTCCCTGGCTGTTGCTGAGCCCGTCCCCATGGTAACTGATCTGCCTTGAGGAAGGAGCCCTGCCCTGCCTGTGGAATTGTCCTGAGTCATTGCTTTGGGCTGGGGCCATGGGAAGAAACCATTGTGTGGCAGGGAAGGAGGTGGCTCTTGGCCCAGGCCTAAACCAGGAAAGCCTGGGAAACTGGGACCCACAGGTGGGCATGAAAGGGCCGCAGCAGGGGCTCCCAGCAGTGTGTAAGACCGGGAGCTGGTCTGGCACCACTGCCCTGGTCCTTCCAGCTGCCTGTCACTGGTATGATGGCCCCGGTGCATTGTGCCACCAGCAGGCCACAGCTGTGGATCTTGGAAGGCCTCTGGGGTCCCCCGGGAGCAGGGGAGTGGGTGTGGGGGGGAACGGATGGTGGTGAGAGGGACAGACCAGGCAGGCTGACGAGCAGGGCGGGCCTGGCTCACGTGGGCCTGTAGGCGGGCCCACGCCAAGTTTCACTTCCCGCCACTGCTGCCAGCGAGAGCCGCGGGAGAGTGTGCAGCCGAGTCACTACTGCCTGCCTGCCTGCCTGCTACGGTGAGTGTGGCCCCCACAATGGGATGGCGCAGGGCAGGAGGGCCATGGGTTCCCCCACCCCAGACTAAGGGGGCACTAGGGGAGGGGCCGAGTCATGTGAAGAGGGAGACCCTCTCAGACAGTCGAATGTGCTGGTCCCACTAAGGAAACCACCTCACCCTCTCCAACTTCCTGCCTGAAAATGGGCCCTGGAGCTCGCAGACAGGGCAGGATTGTGCAGGGAAGGCCTGAGATGTGCTTCTGCCCACCCCCTACCCCACTCCCTCCCCTTCGGATCTTAACACTGGGCACTCACACACCCACCCCATGCTCCTCTCCAGGCTCAGCAGCAGGTACGTACCCAACCATGGGCTCGCAGGCCCTGCCCCCGGGGCCCATGCAGACCCTCATCTTTTTCGACATGGAGGCCACTGGCTTGCCCTTCTCCCAGCCCAAGGTCACGGAGCTGTGCCTGCTGGCTGTCCACAGATGTGCCCTGGAGAGCCCCCCCACCTCTCAGGGGCCACCTCCCACAGTTCCTCCACCACCGCGTGTGGTAGACAAGCTCTCCCTGTGTGTGGCTCCGGGGAAGGCCTGCAGCCCTGCAGCCAGCGAGATCACAGGTCTGAGCACAGCTGTGCTGGCAGCGCATGGGCGTCAATGTTTTGATGACAACCTGGCCAACCTGCTCCTAGCCTTCCTGCGGCGCCAGCCACAGCCCTGGTGCCTGGTGGCACACAATGGTGACCGCTACGACTTCCCCCTGCTCCAAGCAGAGCTGGCTATGCTGGGCCTCACCAGTGCTCTGGATGGTGCCTTCTGTGTGGATAGCATCACTGCGCTGAAGGCCCTGGAGCGAGCAAGCAGCCCCTCAGAACACGGCCCAAGGAAGAGCTATAGCCTAGGCAGCATCTACACTCGCCTGTATGGGCAGTCCCCTCCAGACTCGCACACGGCTGAGGGTGATGTCCTGGCCCTGCTCAGCATCTGTCAGTGGAGACCACAGGCCCTGCTGCGGTGGGTGGATGCTCACGCCAGGCCTTTCGGCACCATCAGGCCCATGTATGGGGTCACAGCCTCTGCTAGGACCAAGCCAAGACCATCTGCTGTCACAACCACTGCACACCTGGCCACAACCAGGAACACTAGTCCCAGCCTTGGAGAGAGCAGGGGTACCAAGGATCTTCCTCCAGTGAAGGACCCTGGAGCCCTATCCAGGGAGGGGCTGCTGGCCCCACTGGGTCTGCTGGCCATCCTGACCTTGGCAGTAGCCACACTGTATGGACTATCCCTGGCCACACCTGGGGAGTAGGCCAAGAAGGAAAATCTGACGAATAAAGACCCCCGCTGCCCCATAGCACTGAGTGGTCAATTGGCTCCTACCCTTCTTGGCAGCACAGACCTCTGCCCACACCCAGGGACCTGGGGAGGAGGGCACAGTGTTTGTCCCTCACTTTCCCTAGCAGGATGGTCAACTATCTGAGCCCAGTAAAAGTAGGGAAAACACAGAGAAGCCCAAATGGATGGAAAGAGTACAGCCTGATTCCAATTCCAGCAGCCGAGGCCAGGAAGAAAGGGGGCAGCAGCTCCAAACGATTGCATTTATTATAAACAAGTGTACAGACCCTAGACTCAGAAACACAACAGATTTGAGCTAAGACAGCTCTGGTGAAACAGTAATAGAGGGAGGAGGAACACGAGGTATTCATGTCTGGGCCAGAGCTGCCATCCAGGGCCCCACACCCCACCTTTGGTCCAGATGGCCCATTGGCCCAGGTGTCCCTGCTGCCAGAACACCGTGGACTGGGGTACAGGAGTTGTTGCATATTCCATGAGGCTGGTGTCGGGAAGCAGGGACTCACAGTTGCCAGGTTGTCCATCTCTGAGCCAATTTCCCTCCACAACCCAGGGGTTTCAGTCTCATATCAACTATCATGTTTGAAACAGAAAACAGGCAAAATGTTTGGCTAAAATAAAATGAAAACACTGCAGGGAAGAGAACTGAGTGTGCTGGTGGACAGGAGCCCTGCTCACCTGTGGGAAGGGCAGGGCCAGCAAGGGCAGCAGAGCTCCCTGGGGGCAGCTAGGCTGTGTGTGCATGTGGCCCTCCAGCTGGTCCCAGGGGAGATGCGGGGACAGGGGACAGTCCAGGCAGACAGGTACAGCTGAGTAGGGCTCTGCCTGAGGTGTTCTGGCATCAGGAGGCTGCCTGATCCCCAACAGGCATGACAGGCTCCAGGGAGCAATGGGACATCTGCCCAAAGGATCAAAGTCCAACTTGGCCAGATCCCAAGCTTCGCCTGCATCATGTCCCTGGCTCTGCAACGGGTACCCCCAACTCCGGGGACGAGCCATGGCCTCAAGCAGCAGCTGGCTACGCTGCCGAAACCAGGACACATCTGCATCACACAGAAAGCTGCGCCACCCTGGTGTGACAGGCCCTACTTGGTCACCCTAGGGTAAGCT
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GGAGGTGAGTGGGTAGGGGCCAACAGCTGGCAGCTCTGGTGGTAAGGGGGCCCCGTGCAAGGACTGTAGGCCCCACTGCAAACCCCCTCACGTGAGGTGGCTAGGCTGAGCGGATTGTTAGGGTGCAGGCCATGGTGGCACCAGGCCTCAGTCTGCACCCCCCCTCTCTCAGGTGGTCAGAGCGCTCACGGTGATGTTGCACAGACAGTGGCTGACAGTGCGGAGGGCAGGGGGACCCCCAAGGACCGACCAGCAGAGGCGGACAGTGCGCTGTCTGCGGGACACGGTGCTGCTGCTGCACGGCCTATCGCAGAAGGACAAGCTCTTCATGATGCACTGCGTGGAGGTCCTGCATCAGTTTGACCAGGTGATGCCGGGGGTCAGCATGCTCATCCGAGGGCTTCCTGATGTGACGGACTGTGAAGGTAAGCCTGCCAGAGGCCATCCTGCCCAGCCCCCATGGCTTCTTCCAGAGGTTCCCCAACAAGTCAGATTCCTGGGTGTCCCCTCAGCAGGCCCCCGCCCACTGCAGCCTGTTCCAGCACTGGGGCCATTTTCTTTTATCTTCCTGCCTCAGTTCTTCTCCAAGCATATTGGGATGCCTTTTGCATCTATCTGTTGAGTGTGCCTGGCAGAGCCACGGTTTTTCCAGAAATAGCCGTGTCTGAATTGCCTTTGTATCACTTTGTTTGCAGTAGCTGAGGGAGCAGGGCCTGGGTGTGGAAGGGACTGGTTAGTTCCTGCGGACGTTGGGGGAGGAGAGGTGGGACCTGCCCTAGGCCCTGGCACCTTTGGGCCCTCACCAGGAACCTCTCCTTTTTGTCTCAGAGGCAGCCCTGGATGACCTCTGTGCCGCGGAAACCGATGTGGAAGACCCCGAGGTGGAGTGTGGCTGAGGCCCTGAGTGTCCAGCCACATGGTGGCACCAGCACCACTCCTTTCCTTACCACATCAACTGATTAAAGCAGTGACCAGCAGGAACTGCCCAGAGAACTGGCTGGCCTTGTTTCCTGAGTCTGATCTGTTTGGCGGAGTGGGAGGGGTGGAGCAGGACCCGGACCCTGAGTGGCTGGGATCCTTCTTCCTGTCCCTGGCTGTTGCTGAGCCCGTCCCCATGGTAACTGATCTGCCTTGAGGAAGGAGCCCTGCCCTGCCTGTGGAATTGTCCTGAGTCATTGCTTTGGGCTGGGGCCATGGGAAGAAACCATTGTGTGGCAGGGAAGGAGGTGGCTCTTGGCCCAGGCCTAAACCAGGAAAGCCTGGGAAACTGGGACCCACAGGTGGGCATGAAAGGGCCGCAGCAGGGGCTCCCAGCAGTGTGTAAGACCGGGAGCTGGTCTGGCACCACTGCCCTGGTCCTTCCAGCTGCCTGTCACTGGTATGATGGCCCCGGTGCATTGTGCCACCAGCAGGCCACAGCTGTGGATCTTGGAAGGCCTCTGGGGTCCCCCGGGAGCAGGGGAGTGGGTGTGGGGGGGAACGGATGGTGGTGAGAGGGACAGACCAGGCAGGCTGACGAGCAGGGCGGGCCTGGCTCACGTGGGCCTGTAGGCGGGCCCACGCCAAGTTTCACTTCCCGCCACTGCTGCCAGCGAGAGCCGCGGGAGAGTGTGCAGCCGAGTCACTACTGCCTGCCTGCCTGCCTGCTACGGTGAGTGTGGCCCCCACAATGGGATGGCGCAGGGCAGGAGGGCCATGGGTTCCCCCACCCCAGACTAAGGGGGCACTAGGGGAGGGGCCGAGTCATGTGAAGAGGGAGACCCTCTCAGACAGTCGAATGTGCTGGTCCCACTAAGGAAACCACCTCACCCTCTCCAACTTCCTGCCTGAAAATGGGCCCTGGAGCTCGCAGACAGGGCAGGATTGTGCAGGGAAGGCCTGAGATGTGCTTCTGCCCACCCCCTACCCCACTCCCTCCCCTTCGGATCTTAACACTGGGCACTCACACACCCACCCCATGCTCCTCTCCAGGCTCAGCAGCAGGTACGTACCCAACCATGGGCTCGCAGGCCCTGCCCCCGGGGCCCATGCAGACCCTCATCTTTTTCAACATGGAGGCCACTGGCTTGCCCTTCTCCCAGCCCAAGGTCACGGAGCTGTGCCTGCTGGCTGTCCACAGATGTGCCCTGGAGAGCCCCCCCACCTCTCAGGGGCCACCTCCCACAGTTCCTCCACCACCGCGTGTGGTAGACAAGCTCTCCCTGTGTGTGGCTCCGGGGAAGGCCTGCAGCCCTGCAGCCAGCGAGATCACAGGTCTGAGCACAGCTGTGCTGGCAGCGCATGGGCGTCAATGTTTTGATGACAACCTGGCCAACCTGCTCCTAGCCTTCCTGCGGCGCCAGCCACAGCCCTGGTGCCTGGTGGCACACAATGGTGACCGCTACGACTTCCCCCTGCTCCAAGCAGAGCTGGCTATGCTGGGCCTCACCAGTGCTCTGGATGGTGCCTTCTGTGTGGATAGCATCACTGCGCTGAAGGCCCTGGAGCGAGCAAGCAGCCCCTCAGAACACGGCCCAAGGAAGAGCTATAGCCTAGGCAGCATCTACACTCGCCTGTATGGGCAGTCCCCTCCAGACTCGCACACGGCTGAGGGTGATGTCCTGGCCCTGCTCAGCATCTGTCAGTGGAGACCACAGGCCCTGCTGCGGTGGGTGGATGCTCACGCCAGGCCTTTCGGCACCATCAGGCCCATGTATGGGGTCACAGCCTCTGCTAGGACCAAGCCAAGACCATCTGCTGTCACAACCACTGCACACCTGGCCACAACCAGGAACACTAGTCCCAGCCTTGGAGAGAGCAGGGGTACCAAGGATCTTCCTCCAGTGAAGGACCCTGGAGCCCTATCCAGGGAGGGGCTGCTGGCCCCACTGGGTCTGCTGGCCATCCTGACCTTGGCAGTAGCCACACTGTATGGACTATCCCTGGCCACACCTGGGGAGTAGGCCAAGAAGGAAAATCTGACGAATAAAGACCCCCGCTGCCCCATAGCACTGAGTGGTCAATTGGCTCCTACCCTTCTTGGCAGCACAGACCTCTGCCCACACCCAGGGACCTGGGGAGGAGGGCACAGTGTTTGTCCCTCACTTTCCCTAGCAGGATGGTCAACTATCTGAGCCCAGTAAAAGTAGGGAAAACACAGAGAAGCCCAAATGGATGGAAAGAGTACAGCCTGATTCCAATTCCAGCAGCCGAGGCCAGGAAGAAAGGGGGCAGCAGCTCCAAACGATTGCATTTATTATAAACAAGTGTACAGACCCTAGACTCAGAAACACAACAGATTTGAGCTAAGACAGCTCTGGTGAAACAGTAATAGAGGGAGGAGGAACACGAGGTATTCATGTCTGGGCCAGAGCTGCCATCCAGGGCCCCACACCCCACCTTTGGTCCAGATGGCCCATTGGCCCAGGTGTCCCTGCTGCCAGAACACCGTGGACTGGGGTACAGGAGTTGTTGCATATTCCATGAGGCTGGTGTCGGGAAGCAGGGACTCACAGTTGCCAGGTTGTCCATCTCTGAGCCAATTTCCCTCCACAACCCAGGGGTTTCAGTCTCATATCAACTATCATGTTTGAAACAGAAAACAGGCAAAATGTTTGGCTAAAATAAAATGAAAACACTGCAGGGAAGAGAACTGAGTGTGCTGGTGGACAGGAGCCCTGCTCACCTGTGGGAAGGGCAGGGCCAGCAAGGGCAGCAGAGCTCCCTGGGGGCAGCTAGGCTGTGTGTGCATGTGGCCCTCCAGCTGGTCCCAGGGGAGATGCGGGGACAGGGGACAGTCCAGGCAGACAGGTACAGCTGAGTAGGGCTCTGCCTGAGGTGTTCTGGCATCAGGAGGCTGCCTGATCCCCAACAGGCATGACAGGCTCCAGGGAGCAATGGGACATCTGCCCAAAGGATCAAAGTCCAACTTGGCCAGATCCCAAGCTTCGCCTGCATCATGTCCCTGGCTCTGCAACGGGTACCCCCAACTCCGGGGACGAGCCATGGCCTCAAGCAGCAGCTGGCTACGCTGCCGAAACCAGGACACATCTGCATCACACAGAAAGCTGCGCCACCCTGGTGTGACAGGCCCTACTTGGTCACCCTAGGGTAAGCT
|
Task1_train_6747
|
This variant affects gene ATRIP, ATRIP-TREX1, TREX1 (ATR interacting protein| ATRIP-TREX1 readthrough| three prime repair exonuclease 1) located on Chromosome 3. Evaluate its biological effect and specify any disease association.
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Pathogenic; Chilblain lupus 1
|
GGGGCCATTTTCTTTTATCTTCCTGCCTCAGTTCTTCTCCAAGCATATTGGGATGCCTTTTGCATCTATCTGTTGAGTGTGCCTGGCAGAGCCACGGTTTTTCCAGAAATAGCCGTGTCTGAATTGCCTTTGTATCACTTTGTTTGCAGTAGCTGAGGGAGCAGGGCCTGGGTGTGGAAGGGACTGGTTAGTTCCTGCGGACGTTGGGGGAGGAGAGGTGGGACCTGCCCTAGGCCCTGGCACCTTTGGGCCCTCACCAGGAACCTCTCCTTTTTGTCTCAGAGGCAGCCCTGGATGACCTCTGTGCCGCGGAAACCGATGTGGAAGACCCCGAGGTGGAGTGTGGCTGAGGCCCTGAGTGTCCAGCCACATGGTGGCACCAGCACCACTCCTTTCCTTACCACATCAACTGATTAAAGCAGTGACCAGCAGGAACTGCCCAGAGAACTGGCTGGCCTTGTTTCCTGAGTCTGATCTGTTTGGCGGAGTGGGAGGGGTGGAGCAGGACCCGGACCCTGAGTGGCTGGGATCCTTCTTCCTGTCCCTGGCTGTTGCTGAGCCCGTCCCCATGGTAACTGATCTGCCTTGAGGAAGGAGCCCTGCCCTGCCTGTGGAATTGTCCTGAGTCATTGCTTTGGGCTGGGGCCATGGGAAGAAACCATTGTGTGGCAGGGAAGGAGGTGGCTCTTGGCCCAGGCCTAAACCAGGAAAGCCTGGGAAACTGGGACCCACAGGTGGGCATGAAAGGGCCGCAGCAGGGGCTCCCAGCAGTGTGTAAGACCGGGAGCTGGTCTGGCACCACTGCCCTGGTCCTTCCAGCTGCCTGTCACTGGTATGATGGCCCCGGTGCATTGTGCCACCAGCAGGCCACAGCTGTGGATCTTGGAAGGCCTCTGGGGTCCCCCGGGAGCAGGGGAGTGGGTGTGGGGGGGAACGGATGGTGGTGAGAGGGACAGACCAGGCAGGCTGACGAGCAGGGCGGGCCTGGCTCACGTGGGCCTGTAGGCGGGCCCACGCCAAGTTTCACTTCCCGCCACTGCTGCCAGCGAGAGCCGCGGGAGAGTGTGCAGCCGAGTCACTACTGCCTGCCTGCCTGCCTGCTACGGTGAGTGTGGCCCCCACAATGGGATGGCGCAGGGCAGGAGGGCCATGGGTTCCCCCACCCCAGACTAAGGGGGCACTAGGGGAGGGGCCGAGTCATGTGAAGAGGGAGACCCTCTCAGACAGTCGAATGTGCTGGTCCCACTAAGGAAACCACCTCACCCTCTCCAACTTCCTGCCTGAAAATGGGCCCTGGAGCTCGCAGACAGGGCAGGATTGTGCAGGGAAGGCCTGAGATGTGCTTCTGCCCACCCCCTACCCCACTCCCTCCCCTTCGGATCTTAACACTGGGCACTCACACACCCACCCCATGCTCCTCTCCAGGCTCAGCAGCAGGTACGTACCCAACCATGGGCTCGCAGGCCCTGCCCCCGGGGCCCATGCAGACCCTCATCTTTTTCGACATGGAGGCCACTGGCTTGCCCTTCTCCCAGCCCAAGGTCACGGAGCTGTGCCTGCTGGCTGTCCACAGATGTGCCCTGGAGAGCCCCCCCACCTCTCAGGGGCCACCTCCCACAGTTCCTCCACCACCGCGTGTGGTAGACAAGCTCTCCCTGTGTGTGGCTCCGGGGAAGGCCTGCAGCCCTGCAGCCAGCGAGATCACAGGTCTGAGCACAGCTGTGCTGGCAGCGCATGGGCGTCAATGTTTTGATGACAACCTGGCCAACCTGCTCCTAGCCTTCCTGCGGCGCCAGCCACAGCCCTGGTGCCTGGTGGCACACAATGGTGACCGCTACGACTTCCCCCTGCTCCAAGCAGAGCTGGCTATGCTGGGCCTCACCAGTGCTCTGGATGGTGCCTTCTGTGTGGATAGCATCACTGCGCTGAAGGCCCTGGAGCGAGCAAGCAGCCCCTCAGAACACGGCCCAAGGAAGAGCTATAGCCTAGGCAGCATCTACACTCGCCTGTATGGGCAGTCCCCTCCAGACTCGCACACGGCTGAGGGTGATGTCCTGGCCCTGCTCAGCATCTGTCAGTGGAGACCACAGGCCCTGCTGCGGTGGGTGGATGCTCACGCCAGGCCTTTCGGCACCATCAGGCCCATGTATGGGGTCACAGCCTCTGCTAGGACCAAGCCAAGACCATCTGCTGTCACAACCACTGCACACCTGGCCACAACCAGGAACACTAGTCCCAGCCTTGGAGAGAGCAGGGGTACCAAGGATCTTCCTCCAGTGAAGGACCCTGGAGCCCTATCCAGGGAGGGGCTGCTGGCCCCACTGGGTCTGCTGGCCATCCTGACCTTGGCAGTAGCCACACTGTATGGACTATCCCTGGCCACACCTGGGGAGTAGGCCAAGAAGGAAAATCTGACGAATAAAGACCCCCGCTGCCCCATAGCACTGAGTGGTCAATTGGCTCCTACCCTTCTTGGCAGCACAGACCTCTGCCCACACCCAGGGACCTGGGGAGGAGGGCACAGTGTTTGTCCCTCACTTTCCCTAGCAGGATGGTCAACTATCTGAGCCCAGTAAAAGTAGGGAAAACACAGAGAAGCCCAAATGGATGGAAAGAGTACAGCCTGATTCCAATTCCAGCAGCCGAGGCCAGGAAGAAAGGGGGCAGCAGCTCCAAACGATTGCATTTATTATAAACAAGTGTACAGACCCTAGACTCAGAAACACAACAGATTTGAGCTAAGACAGCTCTGGTGAAACAGTAATAGAGGGAGGAGGAACACGAGGTATTCATGTCTGGGCCAGAGCTGCCATCCAGGGCCCCACACCCCACCTTTGGTCCAGATGGCCCATTGGCCCAGGTGTCCCTGCTGCCAGAACACCGTGGACTGGGGTACAGGAGTTGTTGCATATTCCATGAGGCTGGTGTCGGGAAGCAGGGACTCACAGTTGCCAGGTTGTCCATCTCTGAGCCAATTTCCCTCCACAACCCAGGGGTTTCAGTCTCATATCAACTATCATGTTTGAAACAGAAAACAGGCAAAATGTTTGGCTAAAATAAAATGAAAACACTGCAGGGAAGAGAACTGAGTGTGCTGGTGGACAGGAGCCCTGCTCACCTGTGGGAAGGGCAGGGCCAGCAAGGGCAGCAGAGCTCCCTGGGGGCAGCTAGGCTGTGTGTGCATGTGGCCCTCCAGCTGGTCCCAGGGGAGATGCGGGGACAGGGGACAGTCCAGGCAGACAGGTACAGCTGAGTAGGGCTCTGCCTGAGGTGTTCTGGCATCAGGAGGCTGCCTGATCCCCAACAGGCATGACAGGCTCCAGGGAGCAATGGGACATCTGCCCAAAGGATCAAAGTCCAACTTGGCCAGATCCCAAGCTTCGCCTGCATCATGTCCCTGGCTCTGCAACGGGTACCCCCAACTCCGGGGACGAGCCATGGCCTCAAGCAGCAGCTGGCTACGCTGCCGAAACCAGGACACATCTGCATCACACAGAAAGCTGCGCCACCCTGGTGTGACAGGCCCTACTTGGTCACCCTAGGGTAAGCTGGAGAAGAACTCCAGATGTGCCCTGGAGAGGCCCCCACCTCTCAGGGGCCACCTCACAGGGTGCCCCCCACCACCCCATTCTTTGAGTTTGGCTTGAGATTTTAGGAAGCATAATTTCAGGTGAGGAAGAGAACAAAGTCTGGTCCCAGCCCACTCTGGCAAGGATTGTTCCCCACCTTGTCAGCATCAGAGGAAGCCACATATACAGGCAGGACACACACAGCACACATGGGGCGTAAGGAACCGTGCCTGGACACACACAGCACACATGGGGCGTAAGGAACCGCGCCTGCACACCACTCACGCACACACACAACATAACCAAGTGGCAGCCAGAGAGGCCAGGGAATGCTCAGAGGGCCGCCTTCGGGGCATCCATGTAGGCCGGGTTGTAAGGAGGCTGGCTGGCGGGGTAGGGCGCGGCTGCTCCTCCTGAAAGCAGAGAGGACCCTGGTTGGCTGTGAGCATGGTGGGCTGCCGTGTGAGTGGCAGGCAAGCAGAAAGGGGCAGAGGCCTGTTGAGTGATGTAGTTTGGGATGGGTGCCC
|
GGGGCCATTTTCTTTTATCTTCCTGCCTCAGTTCTTCTCCAAGCATATTGGGATGCCTTTTGCATCTATCTGTTGAGTGTGCCTGGCAGAGCCACGGTTTTTCCAGAAATAGCCGTGTCTGAATTGCCTTTGTATCACTTTGTTTGCAGTAGCTGAGGGAGCAGGGCCTGGGTGTGGAAGGGACTGGTTAGTTCCTGCGGACGTTGGGGGAGGAGAGGTGGGACCTGCCCTAGGCCCTGGCACCTTTGGGCCCTCACCAGGAACCTCTCCTTTTTGTCTCAGAGGCAGCCCTGGATGACCTCTGTGCCGCGGAAACCGATGTGGAAGACCCCGAGGTGGAGTGTGGCTGAGGCCCTGAGTGTCCAGCCACATGGTGGCACCAGCACCACTCCTTTCCTTACCACATCAACTGATTAAAGCAGTGACCAGCAGGAACTGCCCAGAGAACTGGCTGGCCTTGTTTCCTGAGTCTGATCTGTTTGGCGGAGTGGGAGGGGTGGAGCAGGACCCGGACCCTGAGTGGCTGGGATCCTTCTTCCTGTCCCTGGCTGTTGCTGAGCCCGTCCCCATGGTAACTGATCTGCCTTGAGGAAGGAGCCCTGCCCTGCCTGTGGAATTGTCCTGAGTCATTGCTTTGGGCTGGGGCCATGGGAAGAAACCATTGTGTGGCAGGGAAGGAGGTGGCTCTTGGCCCAGGCCTAAACCAGGAAAGCCTGGGAAACTGGGACCCACAGGTGGGCATGAAAGGGCCGCAGCAGGGGCTCCCAGCAGTGTGTAAGACCGGGAGCTGGTCTGGCACCACTGCCCTGGTCCTTCCAGCTGCCTGTCACTGGTATGATGGCCCCGGTGCATTGTGCCACCAGCAGGCCACAGCTGTGGATCTTGGAAGGCCTCTGGGGTCCCCCGGGAGCAGGGGAGTGGGTGTGGGGGGGAACGGATGGTGGTGAGAGGGACAGACCAGGCAGGCTGACGAGCAGGGCGGGCCTGGCTCACGTGGGCCTGTAGGCGGGCCCACGCCAAGTTTCACTTCCCGCCACTGCTGCCAGCGAGAGCCGCGGGAGAGTGTGCAGCCGAGTCACTACTGCCTGCCTGCCTGCCTGCTACGGTGAGTGTGGCCCCCACAATGGGATGGCGCAGGGCAGGAGGGCCATGGGTTCCCCCACCCCAGACTAAGGGGGCACTAGGGGAGGGGCCGAGTCATGTGAAGAGGGAGACCCTCTCAGACAGTCGAATGTGCTGGTCCCACTAAGGAAACCACCTCACCCTCTCCAACTTCCTGCCTGAAAATGGGCCCTGGAGCTCGCAGACAGGGCAGGATTGTGCAGGGAAGGCCTGAGATGTGCTTCTGCCCACCCCCTACCCCACTCCCTCCCCTTCGGATCTTAACACTGGGCACTCACACACCCACCCCATGCTCCTCTCCAGGCTCAGCAGCAGGTACGTACCCAACCATGGGCTCGCAGGCCCTGCCCCCGGGGCCCATGCAGACCCTCATCTTTTTCGACATGGAGGCCACTGGCTTGCCCTTCTCCCAGCCCAAGGTCACGGAGCTGTGCCTGCTGGCTGTCCACAGATGTGCCCTGGAGAGCCCCCCCACCTCTCAGGGGCCACCTCCCACAGTTCCTCCACCACCGCGTGTGGTAGACAAGCTCTCCCTGTGTGTGGCTCCGGGGAAGGCCTGCAGCCCTGCAGCCAGCGAGATCACAGGTCTGAGCACAGCTGTGCTGGCAGCGCATGGGCGTCAATGTTTTGATGACAACCTGGCCAACCTGCTCCTAGCCTTCCTGCGGCGCCAGCCACAGCCCTGGTGCCTGGTGGCACACAATGGTGACCGCTACGACTTCCCCCTGCTCCAAGCAGAGCTGGCTATGCTGGGCCTCACCAGTGCTCTGGATGGTGCCTTCTGTGTGGATAGCATCACTGCGCTGAAGGCCCTGGAGCGAGCAAGCAGCCCCTCAGAACACGGCCCAAGGAAGAGCTATAGCCTAGGCAGCATCTACACTCGCCTGTATGGGCAGTCCCCTCCAGACTCGCACACGGCTGAGGGTAATGTCCTGGCCCTGCTCAGCATCTGTCAGTGGAGACCACAGGCCCTGCTGCGGTGGGTGGATGCTCACGCCAGGCCTTTCGGCACCATCAGGCCCATGTATGGGGTCACAGCCTCTGCTAGGACCAAGCCAAGACCATCTGCTGTCACAACCACTGCACACCTGGCCACAACCAGGAACACTAGTCCCAGCCTTGGAGAGAGCAGGGGTACCAAGGATCTTCCTCCAGTGAAGGACCCTGGAGCCCTATCCAGGGAGGGGCTGCTGGCCCCACTGGGTCTGCTGGCCATCCTGACCTTGGCAGTAGCCACACTGTATGGACTATCCCTGGCCACACCTGGGGAGTAGGCCAAGAAGGAAAATCTGACGAATAAAGACCCCCGCTGCCCCATAGCACTGAGTGGTCAATTGGCTCCTACCCTTCTTGGCAGCACAGACCTCTGCCCACACCCAGGGACCTGGGGAGGAGGGCACAGTGTTTGTCCCTCACTTTCCCTAGCAGGATGGTCAACTATCTGAGCCCAGTAAAAGTAGGGAAAACACAGAGAAGCCCAAATGGATGGAAAGAGTACAGCCTGATTCCAATTCCAGCAGCCGAGGCCAGGAAGAAAGGGGGCAGCAGCTCCAAACGATTGCATTTATTATAAACAAGTGTACAGACCCTAGACTCAGAAACACAACAGATTTGAGCTAAGACAGCTCTGGTGAAACAGTAATAGAGGGAGGAGGAACACGAGGTATTCATGTCTGGGCCAGAGCTGCCATCCAGGGCCCCACACCCCACCTTTGGTCCAGATGGCCCATTGGCCCAGGTGTCCCTGCTGCCAGAACACCGTGGACTGGGGTACAGGAGTTGTTGCATATTCCATGAGGCTGGTGTCGGGAAGCAGGGACTCACAGTTGCCAGGTTGTCCATCTCTGAGCCAATTTCCCTCCACAACCCAGGGGTTTCAGTCTCATATCAACTATCATGTTTGAAACAGAAAACAGGCAAAATGTTTGGCTAAAATAAAATGAAAACACTGCAGGGAAGAGAACTGAGTGTGCTGGTGGACAGGAGCCCTGCTCACCTGTGGGAAGGGCAGGGCCAGCAAGGGCAGCAGAGCTCCCTGGGGGCAGCTAGGCTGTGTGTGCATGTGGCCCTCCAGCTGGTCCCAGGGGAGATGCGGGGACAGGGGACAGTCCAGGCAGACAGGTACAGCTGAGTAGGGCTCTGCCTGAGGTGTTCTGGCATCAGGAGGCTGCCTGATCCCCAACAGGCATGACAGGCTCCAGGGAGCAATGGGACATCTGCCCAAAGGATCAAAGTCCAACTTGGCCAGATCCCAAGCTTCGCCTGCATCATGTCCCTGGCTCTGCAACGGGTACCCCCAACTCCGGGGACGAGCCATGGCCTCAAGCAGCAGCTGGCTACGCTGCCGAAACCAGGACACATCTGCATCACACAGAAAGCTGCGCCACCCTGGTGTGACAGGCCCTACTTGGTCACCCTAGGGTAAGCTGGAGAAGAACTCCAGATGTGCCCTGGAGAGGCCCCCACCTCTCAGGGGCCACCTCACAGGGTGCCCCCCACCACCCCATTCTTTGAGTTTGGCTTGAGATTTTAGGAAGCATAATTTCAGGTGAGGAAGAGAACAAAGTCTGGTCCCAGCCCACTCTGGCAAGGATTGTTCCCCACCTTGTCAGCATCAGAGGAAGCCACATATACAGGCAGGACACACACAGCACACATGGGGCGTAAGGAACCGTGCCTGGACACACACAGCACACATGGGGCGTAAGGAACCGCGCCTGCACACCACTCACGCACACACACAACATAACCAAGTGGCAGCCAGAGAGGCCAGGGAATGCTCAGAGGGCCGCCTTCGGGGCATCCATGTAGGCCGGGTTGTAAGGAGGCTGGCTGGCGGGGTAGGGCGCGGCTGCTCCTCCTGAAAGCAGAGAGGACCCTGGTTGGCTGTGAGCATGGTGGGCTGCCGTGTGAGTGGCAGGCAAGCAGAAAGGGGCAGAGGCCTGTTGAGTGATGTAGTTTGGGATGGGTGCCC
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Task1_train_6748
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Mutation context: Chromosome 3, Gene ATRIP, ATRIP-TREX1, TREX1 (ATR interacting protein| ATRIP-TREX1 readthrough| three prime repair exonuclease 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
|
Pathogenic; Aicardi-Goutieres syndrome 1
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GGGGCCATTTTCTTTTATCTTCCTGCCTCAGTTCTTCTCCAAGCATATTGGGATGCCTTTTGCATCTATCTGTTGAGTGTGCCTGGCAGAGCCACGGTTTTTCCAGAAATAGCCGTGTCTGAATTGCCTTTGTATCACTTTGTTTGCAGTAGCTGAGGGAGCAGGGCCTGGGTGTGGAAGGGACTGGTTAGTTCCTGCGGACGTTGGGGGAGGAGAGGTGGGACCTGCCCTAGGCCCTGGCACCTTTGGGCCCTCACCAGGAACCTCTCCTTTTTGTCTCAGAGGCAGCCCTGGATGACCTCTGTGCCGCGGAAACCGATGTGGAAGACCCCGAGGTGGAGTGTGGCTGAGGCCCTGAGTGTCCAGCCACATGGTGGCACCAGCACCACTCCTTTCCTTACCACATCAACTGATTAAAGCAGTGACCAGCAGGAACTGCCCAGAGAACTGGCTGGCCTTGTTTCCTGAGTCTGATCTGTTTGGCGGAGTGGGAGGGGTGGAGCAGGACCCGGACCCTGAGTGGCTGGGATCCTTCTTCCTGTCCCTGGCTGTTGCTGAGCCCGTCCCCATGGTAACTGATCTGCCTTGAGGAAGGAGCCCTGCCCTGCCTGTGGAATTGTCCTGAGTCATTGCTTTGGGCTGGGGCCATGGGAAGAAACCATTGTGTGGCAGGGAAGGAGGTGGCTCTTGGCCCAGGCCTAAACCAGGAAAGCCTGGGAAACTGGGACCCACAGGTGGGCATGAAAGGGCCGCAGCAGGGGCTCCCAGCAGTGTGTAAGACCGGGAGCTGGTCTGGCACCACTGCCCTGGTCCTTCCAGCTGCCTGTCACTGGTATGATGGCCCCGGTGCATTGTGCCACCAGCAGGCCACAGCTGTGGATCTTGGAAGGCCTCTGGGGTCCCCCGGGAGCAGGGGAGTGGGTGTGGGGGGGAACGGATGGTGGTGAGAGGGACAGACCAGGCAGGCTGACGAGCAGGGCGGGCCTGGCTCACGTGGGCCTGTAGGCGGGCCCACGCCAAGTTTCACTTCCCGCCACTGCTGCCAGCGAGAGCCGCGGGAGAGTGTGCAGCCGAGTCACTACTGCCTGCCTGCCTGCCTGCTACGGTGAGTGTGGCCCCCACAATGGGATGGCGCAGGGCAGGAGGGCCATGGGTTCCCCCACCCCAGACTAAGGGGGCACTAGGGGAGGGGCCGAGTCATGTGAAGAGGGAGACCCTCTCAGACAGTCGAATGTGCTGGTCCCACTAAGGAAACCACCTCACCCTCTCCAACTTCCTGCCTGAAAATGGGCCCTGGAGCTCGCAGACAGGGCAGGATTGTGCAGGGAAGGCCTGAGATGTGCTTCTGCCCACCCCCTACCCCACTCCCTCCCCTTCGGATCTTAACACTGGGCACTCACACACCCACCCCATGCTCCTCTCCAGGCTCAGCAGCAGGTACGTACCCAACCATGGGCTCGCAGGCCCTGCCCCCGGGGCCCATGCAGACCCTCATCTTTTTCGACATGGAGGCCACTGGCTTGCCCTTCTCCCAGCCCAAGGTCACGGAGCTGTGCCTGCTGGCTGTCCACAGATGTGCCCTGGAGAGCCCCCCCACCTCTCAGGGGCCACCTCCCACAGTTCCTCCACCACCGCGTGTGGTAGACAAGCTCTCCCTGTGTGTGGCTCCGGGGAAGGCCTGCAGCCCTGCAGCCAGCGAGATCACAGGTCTGAGCACAGCTGTGCTGGCAGCGCATGGGCGTCAATGTTTTGATGACAACCTGGCCAACCTGCTCCTAGCCTTCCTGCGGCGCCAGCCACAGCCCTGGTGCCTGGTGGCACACAATGGTGACCGCTACGACTTCCCCCTGCTCCAAGCAGAGCTGGCTATGCTGGGCCTCACCAGTGCTCTGGATGGTGCCTTCTGTGTGGATAGCATCACTGCGCTGAAGGCCCTGGAGCGAGCAAGCAGCCCCTCAGAACACGGCCCAAGGAAGAGCTATAGCCTAGGCAGCATCTACACTCGCCTGTATGGGCAGTCCCCTCCAGACTCGCACACGGCTGAGGGTGATGTCCTGGCCCTGCTCAGCATCTGTCAGTGGAGACCACAGGCCCTGCTGCGGTGGGTGGATGCTCACGCCAGGCCTTTCGGCACCATCAGGCCCATGTATGGGGTCACAGCCTCTGCTAGGACCAAGCCAAGACCATCTGCTGTCACAACCACTGCACACCTGGCCACAACCAGGAACACTAGTCCCAGCCTTGGAGAGAGCAGGGGTACCAAGGATCTTCCTCCAGTGAAGGACCCTGGAGCCCTATCCAGGGAGGGGCTGCTGGCCCCACTGGGTCTGCTGGCCATCCTGACCTTGGCAGTAGCCACACTGTATGGACTATCCCTGGCCACACCTGGGGAGTAGGCCAAGAAGGAAAATCTGACGAATAAAGACCCCCGCTGCCCCATAGCACTGAGTGGTCAATTGGCTCCTACCCTTCTTGGCAGCACAGACCTCTGCCCACACCCAGGGACCTGGGGAGGAGGGCACAGTGTTTGTCCCTCACTTTCCCTAGCAGGATGGTCAACTATCTGAGCCCAGTAAAAGTAGGGAAAACACAGAGAAGCCCAAATGGATGGAAAGAGTACAGCCTGATTCCAATTCCAGCAGCCGAGGCCAGGAAGAAAGGGGGCAGCAGCTCCAAACGATTGCATTTATTATAAACAAGTGTACAGACCCTAGACTCAGAAACACAACAGATTTGAGCTAAGACAGCTCTGGTGAAACAGTAATAGAGGGAGGAGGAACACGAGGTATTCATGTCTGGGCCAGAGCTGCCATCCAGGGCCCCACACCCCACCTTTGGTCCAGATGGCCCATTGGCCCAGGTGTCCCTGCTGCCAGAACACCGTGGACTGGGGTACAGGAGTTGTTGCATATTCCATGAGGCTGGTGTCGGGAAGCAGGGACTCACAGTTGCCAGGTTGTCCATCTCTGAGCCAATTTCCCTCCACAACCCAGGGGTTTCAGTCTCATATCAACTATCATGTTTGAAACAGAAAACAGGCAAAATGTTTGGCTAAAATAAAATGAAAACACTGCAGGGAAGAGAACTGAGTGTGCTGGTGGACAGGAGCCCTGCTCACCTGTGGGAAGGGCAGGGCCAGCAAGGGCAGCAGAGCTCCCTGGGGGCAGCTAGGCTGTGTGTGCATGTGGCCCTCCAGCTGGTCCCAGGGGAGATGCGGGGACAGGGGACAGTCCAGGCAGACAGGTACAGCTGAGTAGGGCTCTGCCTGAGGTGTTCTGGCATCAGGAGGCTGCCTGATCCCCAACAGGCATGACAGGCTCCAGGGAGCAATGGGACATCTGCCCAAAGGATCAAAGTCCAACTTGGCCAGATCCCAAGCTTCGCCTGCATCATGTCCCTGGCTCTGCAACGGGTACCCCCAACTCCGGGGACGAGCCATGGCCTCAAGCAGCAGCTGGCTACGCTGCCGAAACCAGGACACATCTGCATCACACAGAAAGCTGCGCCACCCTGGTGTGACAGGCCCTACTTGGTCACCCTAGGGTAAGCTGGAGAAGAACTCCAGATGTGCCCTGGAGAGGCCCCCACCTCTCAGGGGCCACCTCACAGGGTGCCCCCCACCACCCCATTCTTTGAGTTTGGCTTGAGATTTTAGGAAGCATAATTTCAGGTGAGGAAGAGAACAAAGTCTGGTCCCAGCCCACTCTGGCAAGGATTGTTCCCCACCTTGTCAGCATCAGAGGAAGCCACATATACAGGCAGGACACACACAGCACACATGGGGCGTAAGGAACCGTGCCTGGACACACACAGCACACATGGGGCGTAAGGAACCGCGCCTGCACACCACTCACGCACACACACAACATAACCAAGTGGCAGCCAGAGAGGCCAGGGAATGCTCAGAGGGCCGCCTTCGGGGCATCCATGTAGGCCGGGTTGTAAGGAGGCTGGCTGGCGGGGTAGGGCGCGGCTGCTCCTCCTGAAAGCAGAGAGGACCCTGGTTGGCTGTGAGCATGGTGGGCTGCCGTGTGAGTGGCAGGCAAGCAGAAAGGGGCAGAGGCCTGTTGAGTGATGTAGTTTGGGATGGGTGCCC
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GGGGCCATTTTCTTTTATCTTCCTGCCTCAGTTCTTCTCCAAGCATATTGGGATGCCTTTTGCATCTATCTGTTGAGTGTGCCTGGCAGAGCCACGGTTTTTCCAGAAATAGCCGTGTCTGAATTGCCTTTGTATCACTTTGTTTGCAGTAGCTGAGGGAGCAGGGCCTGGGTGTGGAAGGGACTGGTTAGTTCCTGCGGACGTTGGGGGAGGAGAGGTGGGACCTGCCCTAGGCCCTGGCACCTTTGGGCCCTCACCAGGAACCTCTCCTTTTTGTCTCAGAGGCAGCCCTGGATGACCTCTGTGCCGCGGAAACCGATGTGGAAGACCCCGAGGTGGAGTGTGGCTGAGGCCCTGAGTGTCCAGCCACATGGTGGCACCAGCACCACTCCTTTCCTTACCACATCAACTGATTAAAGCAGTGACCAGCAGGAACTGCCCAGAGAACTGGCTGGCCTTGTTTCCTGAGTCTGATCTGTTTGGCGGAGTGGGAGGGGTGGAGCAGGACCCGGACCCTGAGTGGCTGGGATCCTTCTTCCTGTCCCTGGCTGTTGCTGAGCCCGTCCCCATGGTAACTGATCTGCCTTGAGGAAGGAGCCCTGCCCTGCCTGTGGAATTGTCCTGAGTCATTGCTTTGGGCTGGGGCCATGGGAAGAAACCATTGTGTGGCAGGGAAGGAGGTGGCTCTTGGCCCAGGCCTAAACCAGGAAAGCCTGGGAAACTGGGACCCACAGGTGGGCATGAAAGGGCCGCAGCAGGGGCTCCCAGCAGTGTGTAAGACCGGGAGCTGGTCTGGCACCACTGCCCTGGTCCTTCCAGCTGCCTGTCACTGGTATGATGGCCCCGGTGCATTGTGCCACCAGCAGGCCACAGCTGTGGATCTTGGAAGGCCTCTGGGGTCCCCCGGGAGCAGGGGAGTGGGTGTGGGGGGGAACGGATGGTGGTGAGAGGGACAGACCAGGCAGGCTGACGAGCAGGGCGGGCCTGGCTCACGTGGGCCTGTAGGCGGGCCCACGCCAAGTTTCACTTCCCGCCACTGCTGCCAGCGAGAGCCGCGGGAGAGTGTGCAGCCGAGTCACTACTGCCTGCCTGCCTGCCTGCTACGGTGAGTGTGGCCCCCACAATGGGATGGCGCAGGGCAGGAGGGCCATGGGTTCCCCCACCCCAGACTAAGGGGGCACTAGGGGAGGGGCCGAGTCATGTGAAGAGGGAGACCCTCTCAGACAGTCGAATGTGCTGGTCCCACTAAGGAAACCACCTCACCCTCTCCAACTTCCTGCCTGAAAATGGGCCCTGGAGCTCGCAGACAGGGCAGGATTGTGCAGGGAAGGCCTGAGATGTGCTTCTGCCCACCCCCTACCCCACTCCCTCCCCTTCGGATCTTAACACTGGGCACTCACACACCCACCCCATGCTCCTCTCCAGGCTCAGCAGCAGGTACGTACCCAACCATGGGCTCGCAGGCCCTGCCCCCGGGGCCCATGCAGACCCTCATCTTTTTCGACATGGAGGCCACTGGCTTGCCCTTCTCCCAGCCCAAGGTCACGGAGCTGTGCCTGCTGGCTGTCCACAGATGTGCCCTGGAGAGCCCCCCCACCTCTCAGGGGCCACCTCCCACAGTTCCTCCACCACCGCGTGTGGTAGACAAGCTCTCCCTGTGTGTGGCTCCGGGGAAGGCCTGCAGCCCTGCAGCCAGCGAGATCACAGGTCTGAGCACAGCTGTGCTGGCAGCGCATGGGCGTCAATGTTTTGATGACAACCTGGCCAACCTGCTCCTAGCCTTCCTGCGGCGCCAGCCACAGCCCTGGTGCCTGGTGGCACACAATGGTGACCGCTACGACTTCCCCCTGCTCCAAGCAGAGCTGGCTATGCTGGGCCTCACCAGTGCTCTGGATGGTGCCTTCTGTGTGGATAGCATCACTGCGCTGAAGGCCCTGGAGCGAGCAAGCAGCCCCTCAGAACACGGCCCAAGGAAGAGCTATAGCCTAGGCAGCATCTACACTCGCCTGTATGGGCAGTCCCCTCCAGACTCGCACACGGCTGAGGGTAATGTCCTGGCCCTGCTCAGCATCTGTCAGTGGAGACCACAGGCCCTGCTGCGGTGGGTGGATGCTCACGCCAGGCCTTTCGGCACCATCAGGCCCATGTATGGGGTCACAGCCTCTGCTAGGACCAAGCCAAGACCATCTGCTGTCACAACCACTGCACACCTGGCCACAACCAGGAACACTAGTCCCAGCCTTGGAGAGAGCAGGGGTACCAAGGATCTTCCTCCAGTGAAGGACCCTGGAGCCCTATCCAGGGAGGGGCTGCTGGCCCCACTGGGTCTGCTGGCCATCCTGACCTTGGCAGTAGCCACACTGTATGGACTATCCCTGGCCACACCTGGGGAGTAGGCCAAGAAGGAAAATCTGACGAATAAAGACCCCCGCTGCCCCATAGCACTGAGTGGTCAATTGGCTCCTACCCTTCTTGGCAGCACAGACCTCTGCCCACACCCAGGGACCTGGGGAGGAGGGCACAGTGTTTGTCCCTCACTTTCCCTAGCAGGATGGTCAACTATCTGAGCCCAGTAAAAGTAGGGAAAACACAGAGAAGCCCAAATGGATGGAAAGAGTACAGCCTGATTCCAATTCCAGCAGCCGAGGCCAGGAAGAAAGGGGGCAGCAGCTCCAAACGATTGCATTTATTATAAACAAGTGTACAGACCCTAGACTCAGAAACACAACAGATTTGAGCTAAGACAGCTCTGGTGAAACAGTAATAGAGGGAGGAGGAACACGAGGTATTCATGTCTGGGCCAGAGCTGCCATCCAGGGCCCCACACCCCACCTTTGGTCCAGATGGCCCATTGGCCCAGGTGTCCCTGCTGCCAGAACACCGTGGACTGGGGTACAGGAGTTGTTGCATATTCCATGAGGCTGGTGTCGGGAAGCAGGGACTCACAGTTGCCAGGTTGTCCATCTCTGAGCCAATTTCCCTCCACAACCCAGGGGTTTCAGTCTCATATCAACTATCATGTTTGAAACAGAAAACAGGCAAAATGTTTGGCTAAAATAAAATGAAAACACTGCAGGGAAGAGAACTGAGTGTGCTGGTGGACAGGAGCCCTGCTCACCTGTGGGAAGGGCAGGGCCAGCAAGGGCAGCAGAGCTCCCTGGGGGCAGCTAGGCTGTGTGTGCATGTGGCCCTCCAGCTGGTCCCAGGGGAGATGCGGGGACAGGGGACAGTCCAGGCAGACAGGTACAGCTGAGTAGGGCTCTGCCTGAGGTGTTCTGGCATCAGGAGGCTGCCTGATCCCCAACAGGCATGACAGGCTCCAGGGAGCAATGGGACATCTGCCCAAAGGATCAAAGTCCAACTTGGCCAGATCCCAAGCTTCGCCTGCATCATGTCCCTGGCTCTGCAACGGGTACCCCCAACTCCGGGGACGAGCCATGGCCTCAAGCAGCAGCTGGCTACGCTGCCGAAACCAGGACACATCTGCATCACACAGAAAGCTGCGCCACCCTGGTGTGACAGGCCCTACTTGGTCACCCTAGGGTAAGCTGGAGAAGAACTCCAGATGTGCCCTGGAGAGGCCCCCACCTCTCAGGGGCCACCTCACAGGGTGCCCCCCACCACCCCATTCTTTGAGTTTGGCTTGAGATTTTAGGAAGCATAATTTCAGGTGAGGAAGAGAACAAAGTCTGGTCCCAGCCCACTCTGGCAAGGATTGTTCCCCACCTTGTCAGCATCAGAGGAAGCCACATATACAGGCAGGACACACACAGCACACATGGGGCGTAAGGAACCGTGCCTGGACACACACAGCACACATGGGGCGTAAGGAACCGCGCCTGCACACCACTCACGCACACACACAACATAACCAAGTGGCAGCCAGAGAGGCCAGGGAATGCTCAGAGGGCCGCCTTCGGGGCATCCATGTAGGCCGGGTTGTAAGGAGGCTGGCTGGCGGGGTAGGGCGCGGCTGCTCCTCCTGAAAGCAGAGAGGACCCTGGTTGGCTGTGAGCATGGTGGGCTGCCGTGTGAGTGGCAGGCAAGCAGAAAGGGGCAGAGGCCTGTTGAGTGATGTAGTTTGGGATGGGTGCCC
|
Task1_train_6749
|
A mutation in ATRIP, ATRIP-TREX1, TREX1 (ATR interacting protein| ATRIP-TREX1 readthrough| three prime repair exonuclease 1), located on Chromosome 3, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
|
Pathogenic; Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
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GGGGCCATTTTCTTTTATCTTCCTGCCTCAGTTCTTCTCCAAGCATATTGGGATGCCTTTTGCATCTATCTGTTGAGTGTGCCTGGCAGAGCCACGGTTTTTCCAGAAATAGCCGTGTCTGAATTGCCTTTGTATCACTTTGTTTGCAGTAGCTGAGGGAGCAGGGCCTGGGTGTGGAAGGGACTGGTTAGTTCCTGCGGACGTTGGGGGAGGAGAGGTGGGACCTGCCCTAGGCCCTGGCACCTTTGGGCCCTCACCAGGAACCTCTCCTTTTTGTCTCAGAGGCAGCCCTGGATGACCTCTGTGCCGCGGAAACCGATGTGGAAGACCCCGAGGTGGAGTGTGGCTGAGGCCCTGAGTGTCCAGCCACATGGTGGCACCAGCACCACTCCTTTCCTTACCACATCAACTGATTAAAGCAGTGACCAGCAGGAACTGCCCAGAGAACTGGCTGGCCTTGTTTCCTGAGTCTGATCTGTTTGGCGGAGTGGGAGGGGTGGAGCAGGACCCGGACCCTGAGTGGCTGGGATCCTTCTTCCTGTCCCTGGCTGTTGCTGAGCCCGTCCCCATGGTAACTGATCTGCCTTGAGGAAGGAGCCCTGCCCTGCCTGTGGAATTGTCCTGAGTCATTGCTTTGGGCTGGGGCCATGGGAAGAAACCATTGTGTGGCAGGGAAGGAGGTGGCTCTTGGCCCAGGCCTAAACCAGGAAAGCCTGGGAAACTGGGACCCACAGGTGGGCATGAAAGGGCCGCAGCAGGGGCTCCCAGCAGTGTGTAAGACCGGGAGCTGGTCTGGCACCACTGCCCTGGTCCTTCCAGCTGCCTGTCACTGGTATGATGGCCCCGGTGCATTGTGCCACCAGCAGGCCACAGCTGTGGATCTTGGAAGGCCTCTGGGGTCCCCCGGGAGCAGGGGAGTGGGTGTGGGGGGGAACGGATGGTGGTGAGAGGGACAGACCAGGCAGGCTGACGAGCAGGGCGGGCCTGGCTCACGTGGGCCTGTAGGCGGGCCCACGCCAAGTTTCACTTCCCGCCACTGCTGCCAGCGAGAGCCGCGGGAGAGTGTGCAGCCGAGTCACTACTGCCTGCCTGCCTGCCTGCTACGGTGAGTGTGGCCCCCACAATGGGATGGCGCAGGGCAGGAGGGCCATGGGTTCCCCCACCCCAGACTAAGGGGGCACTAGGGGAGGGGCCGAGTCATGTGAAGAGGGAGACCCTCTCAGACAGTCGAATGTGCTGGTCCCACTAAGGAAACCACCTCACCCTCTCCAACTTCCTGCCTGAAAATGGGCCCTGGAGCTCGCAGACAGGGCAGGATTGTGCAGGGAAGGCCTGAGATGTGCTTCTGCCCACCCCCTACCCCACTCCCTCCCCTTCGGATCTTAACACTGGGCACTCACACACCCACCCCATGCTCCTCTCCAGGCTCAGCAGCAGGTACGTACCCAACCATGGGCTCGCAGGCCCTGCCCCCGGGGCCCATGCAGACCCTCATCTTTTTCGACATGGAGGCCACTGGCTTGCCCTTCTCCCAGCCCAAGGTCACGGAGCTGTGCCTGCTGGCTGTCCACAGATGTGCCCTGGAGAGCCCCCCCACCTCTCAGGGGCCACCTCCCACAGTTCCTCCACCACCGCGTGTGGTAGACAAGCTCTCCCTGTGTGTGGCTCCGGGGAAGGCCTGCAGCCCTGCAGCCAGCGAGATCACAGGTCTGAGCACAGCTGTGCTGGCAGCGCATGGGCGTCAATGTTTTGATGACAACCTGGCCAACCTGCTCCTAGCCTTCCTGCGGCGCCAGCCACAGCCCTGGTGCCTGGTGGCACACAATGGTGACCGCTACGACTTCCCCCTGCTCCAAGCAGAGCTGGCTATGCTGGGCCTCACCAGTGCTCTGGATGGTGCCTTCTGTGTGGATAGCATCACTGCGCTGAAGGCCCTGGAGCGAGCAAGCAGCCCCTCAGAACACGGCCCAAGGAAGAGCTATAGCCTAGGCAGCATCTACACTCGCCTGTATGGGCAGTCCCCTCCAGACTCGCACACGGCTGAGGGTGATGTCCTGGCCCTGCTCAGCATCTGTCAGTGGAGACCACAGGCCCTGCTGCGGTGGGTGGATGCTCACGCCAGGCCTTTCGGCACCATCAGGCCCATGTATGGGGTCACAGCCTCTGCTAGGACCAAGCCAAGACCATCTGCTGTCACAACCACTGCACACCTGGCCACAACCAGGAACACTAGTCCCAGCCTTGGAGAGAGCAGGGGTACCAAGGATCTTCCTCCAGTGAAGGACCCTGGAGCCCTATCCAGGGAGGGGCTGCTGGCCCCACTGGGTCTGCTGGCCATCCTGACCTTGGCAGTAGCCACACTGTATGGACTATCCCTGGCCACACCTGGGGAGTAGGCCAAGAAGGAAAATCTGACGAATAAAGACCCCCGCTGCCCCATAGCACTGAGTGGTCAATTGGCTCCTACCCTTCTTGGCAGCACAGACCTCTGCCCACACCCAGGGACCTGGGGAGGAGGGCACAGTGTTTGTCCCTCACTTTCCCTAGCAGGATGGTCAACTATCTGAGCCCAGTAAAAGTAGGGAAAACACAGAGAAGCCCAAATGGATGGAAAGAGTACAGCCTGATTCCAATTCCAGCAGCCGAGGCCAGGAAGAAAGGGGGCAGCAGCTCCAAACGATTGCATTTATTATAAACAAGTGTACAGACCCTAGACTCAGAAACACAACAGATTTGAGCTAAGACAGCTCTGGTGAAACAGTAATAGAGGGAGGAGGAACACGAGGTATTCATGTCTGGGCCAGAGCTGCCATCCAGGGCCCCACACCCCACCTTTGGTCCAGATGGCCCATTGGCCCAGGTGTCCCTGCTGCCAGAACACCGTGGACTGGGGTACAGGAGTTGTTGCATATTCCATGAGGCTGGTGTCGGGAAGCAGGGACTCACAGTTGCCAGGTTGTCCATCTCTGAGCCAATTTCCCTCCACAACCCAGGGGTTTCAGTCTCATATCAACTATCATGTTTGAAACAGAAAACAGGCAAAATGTTTGGCTAAAATAAAATGAAAACACTGCAGGGAAGAGAACTGAGTGTGCTGGTGGACAGGAGCCCTGCTCACCTGTGGGAAGGGCAGGGCCAGCAAGGGCAGCAGAGCTCCCTGGGGGCAGCTAGGCTGTGTGTGCATGTGGCCCTCCAGCTGGTCCCAGGGGAGATGCGGGGACAGGGGACAGTCCAGGCAGACAGGTACAGCTGAGTAGGGCTCTGCCTGAGGTGTTCTGGCATCAGGAGGCTGCCTGATCCCCAACAGGCATGACAGGCTCCAGGGAGCAATGGGACATCTGCCCAAAGGATCAAAGTCCAACTTGGCCAGATCCCAAGCTTCGCCTGCATCATGTCCCTGGCTCTGCAACGGGTACCCCCAACTCCGGGGACGAGCCATGGCCTCAAGCAGCAGCTGGCTACGCTGCCGAAACCAGGACACATCTGCATCACACAGAAAGCTGCGCCACCCTGGTGTGACAGGCCCTACTTGGTCACCCTAGGGTAAGCTGGAGAAGAACTCCAGATGTGCCCTGGAGAGGCCCCCACCTCTCAGGGGCCACCTCACAGGGTGCCCCCCACCACCCCATTCTTTGAGTTTGGCTTGAGATTTTAGGAAGCATAATTTCAGGTGAGGAAGAGAACAAAGTCTGGTCCCAGCCCACTCTGGCAAGGATTGTTCCCCACCTTGTCAGCATCAGAGGAAGCCACATATACAGGCAGGACACACACAGCACACATGGGGCGTAAGGAACCGTGCCTGGACACACACAGCACACATGGGGCGTAAGGAACCGCGCCTGCACACCACTCACGCACACACACAACATAACCAAGTGGCAGCCAGAGAGGCCAGGGAATGCTCAGAGGGCCGCCTTCGGGGCATCCATGTAGGCCGGGTTGTAAGGAGGCTGGCTGGCGGGGTAGGGCGCGGCTGCTCCTCCTGAAAGCAGAGAGGACCCTGGTTGGCTGTGAGCATGGTGGGCTGCCGTGTGAGTGGCAGGCAAGCAGAAAGGGGCAGAGGCCTGTTGAGTGATGTAGTTTGGGATGGGTGCCC
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GGGGCCATTTTCTTTTATCTTCCTGCCTCAGTTCTTCTCCAAGCATATTGGGATGCCTTTTGCATCTATCTGTTGAGTGTGCCTGGCAGAGCCACGGTTTTTCCAGAAATAGCCGTGTCTGAATTGCCTTTGTATCACTTTGTTTGCAGTAGCTGAGGGAGCAGGGCCTGGGTGTGGAAGGGACTGGTTAGTTCCTGCGGACGTTGGGGGAGGAGAGGTGGGACCTGCCCTAGGCCCTGGCACCTTTGGGCCCTCACCAGGAACCTCTCCTTTTTGTCTCAGAGGCAGCCCTGGATGACCTCTGTGCCGCGGAAACCGATGTGGAAGACCCCGAGGTGGAGTGTGGCTGAGGCCCTGAGTGTCCAGCCACATGGTGGCACCAGCACCACTCCTTTCCTTACCACATCAACTGATTAAAGCAGTGACCAGCAGGAACTGCCCAGAGAACTGGCTGGCCTTGTTTCCTGAGTCTGATCTGTTTGGCGGAGTGGGAGGGGTGGAGCAGGACCCGGACCCTGAGTGGCTGGGATCCTTCTTCCTGTCCCTGGCTGTTGCTGAGCCCGTCCCCATGGTAACTGATCTGCCTTGAGGAAGGAGCCCTGCCCTGCCTGTGGAATTGTCCTGAGTCATTGCTTTGGGCTGGGGCCATGGGAAGAAACCATTGTGTGGCAGGGAAGGAGGTGGCTCTTGGCCCAGGCCTAAACCAGGAAAGCCTGGGAAACTGGGACCCACAGGTGGGCATGAAAGGGCCGCAGCAGGGGCTCCCAGCAGTGTGTAAGACCGGGAGCTGGTCTGGCACCACTGCCCTGGTCCTTCCAGCTGCCTGTCACTGGTATGATGGCCCCGGTGCATTGTGCCACCAGCAGGCCACAGCTGTGGATCTTGGAAGGCCTCTGGGGTCCCCCGGGAGCAGGGGAGTGGGTGTGGGGGGGAACGGATGGTGGTGAGAGGGACAGACCAGGCAGGCTGACGAGCAGGGCGGGCCTGGCTCACGTGGGCCTGTAGGCGGGCCCACGCCAAGTTTCACTTCCCGCCACTGCTGCCAGCGAGAGCCGCGGGAGAGTGTGCAGCCGAGTCACTACTGCCTGCCTGCCTGCCTGCTACGGTGAGTGTGGCCCCCACAATGGGATGGCGCAGGGCAGGAGGGCCATGGGTTCCCCCACCCCAGACTAAGGGGGCACTAGGGGAGGGGCCGAGTCATGTGAAGAGGGAGACCCTCTCAGACAGTCGAATGTGCTGGTCCCACTAAGGAAACCACCTCACCCTCTCCAACTTCCTGCCTGAAAATGGGCCCTGGAGCTCGCAGACAGGGCAGGATTGTGCAGGGAAGGCCTGAGATGTGCTTCTGCCCACCCCCTACCCCACTCCCTCCCCTTCGGATCTTAACACTGGGCACTCACACACCCACCCCATGCTCCTCTCCAGGCTCAGCAGCAGGTACGTACCCAACCATGGGCTCGCAGGCCCTGCCCCCGGGGCCCATGCAGACCCTCATCTTTTTCGACATGGAGGCCACTGGCTTGCCCTTCTCCCAGCCCAAGGTCACGGAGCTGTGCCTGCTGGCTGTCCACAGATGTGCCCTGGAGAGCCCCCCCACCTCTCAGGGGCCACCTCCCACAGTTCCTCCACCACCGCGTGTGGTAGACAAGCTCTCCCTGTGTGTGGCTCCGGGGAAGGCCTGCAGCCCTGCAGCCAGCGAGATCACAGGTCTGAGCACAGCTGTGCTGGCAGCGCATGGGCGTCAATGTTTTGATGACAACCTGGCCAACCTGCTCCTAGCCTTCCTGCGGCGCCAGCCACAGCCCTGGTGCCTGGTGGCACACAATGGTGACCGCTACGACTTCCCCCTGCTCCAAGCAGAGCTGGCTATGCTGGGCCTCACCAGTGCTCTGGATGGTGCCTTCTGTGTGGATAGCATCACTGCGCTGAAGGCCCTGGAGCGAGCAAGCAGCCCCTCAGAACACGGCCCAAGGAAGAGCTATAGCCTAGGCAGCATCTACACTCGCCTGTATGGGCAGTCCCCTCCAGACTCGCACACGGCTGAGGGTAATGTCCTGGCCCTGCTCAGCATCTGTCAGTGGAGACCACAGGCCCTGCTGCGGTGGGTGGATGCTCACGCCAGGCCTTTCGGCACCATCAGGCCCATGTATGGGGTCACAGCCTCTGCTAGGACCAAGCCAAGACCATCTGCTGTCACAACCACTGCACACCTGGCCACAACCAGGAACACTAGTCCCAGCCTTGGAGAGAGCAGGGGTACCAAGGATCTTCCTCCAGTGAAGGACCCTGGAGCCCTATCCAGGGAGGGGCTGCTGGCCCCACTGGGTCTGCTGGCCATCCTGACCTTGGCAGTAGCCACACTGTATGGACTATCCCTGGCCACACCTGGGGAGTAGGCCAAGAAGGAAAATCTGACGAATAAAGACCCCCGCTGCCCCATAGCACTGAGTGGTCAATTGGCTCCTACCCTTCTTGGCAGCACAGACCTCTGCCCACACCCAGGGACCTGGGGAGGAGGGCACAGTGTTTGTCCCTCACTTTCCCTAGCAGGATGGTCAACTATCTGAGCCCAGTAAAAGTAGGGAAAACACAGAGAAGCCCAAATGGATGGAAAGAGTACAGCCTGATTCCAATTCCAGCAGCCGAGGCCAGGAAGAAAGGGGGCAGCAGCTCCAAACGATTGCATTTATTATAAACAAGTGTACAGACCCTAGACTCAGAAACACAACAGATTTGAGCTAAGACAGCTCTGGTGAAACAGTAATAGAGGGAGGAGGAACACGAGGTATTCATGTCTGGGCCAGAGCTGCCATCCAGGGCCCCACACCCCACCTTTGGTCCAGATGGCCCATTGGCCCAGGTGTCCCTGCTGCCAGAACACCGTGGACTGGGGTACAGGAGTTGTTGCATATTCCATGAGGCTGGTGTCGGGAAGCAGGGACTCACAGTTGCCAGGTTGTCCATCTCTGAGCCAATTTCCCTCCACAACCCAGGGGTTTCAGTCTCATATCAACTATCATGTTTGAAACAGAAAACAGGCAAAATGTTTGGCTAAAATAAAATGAAAACACTGCAGGGAAGAGAACTGAGTGTGCTGGTGGACAGGAGCCCTGCTCACCTGTGGGAAGGGCAGGGCCAGCAAGGGCAGCAGAGCTCCCTGGGGGCAGCTAGGCTGTGTGTGCATGTGGCCCTCCAGCTGGTCCCAGGGGAGATGCGGGGACAGGGGACAGTCCAGGCAGACAGGTACAGCTGAGTAGGGCTCTGCCTGAGGTGTTCTGGCATCAGGAGGCTGCCTGATCCCCAACAGGCATGACAGGCTCCAGGGAGCAATGGGACATCTGCCCAAAGGATCAAAGTCCAACTTGGCCAGATCCCAAGCTTCGCCTGCATCATGTCCCTGGCTCTGCAACGGGTACCCCCAACTCCGGGGACGAGCCATGGCCTCAAGCAGCAGCTGGCTACGCTGCCGAAACCAGGACACATCTGCATCACACAGAAAGCTGCGCCACCCTGGTGTGACAGGCCCTACTTGGTCACCCTAGGGTAAGCTGGAGAAGAACTCCAGATGTGCCCTGGAGAGGCCCCCACCTCTCAGGGGCCACCTCACAGGGTGCCCCCCACCACCCCATTCTTTGAGTTTGGCTTGAGATTTTAGGAAGCATAATTTCAGGTGAGGAAGAGAACAAAGTCTGGTCCCAGCCCACTCTGGCAAGGATTGTTCCCCACCTTGTCAGCATCAGAGGAAGCCACATATACAGGCAGGACACACACAGCACACATGGGGCGTAAGGAACCGTGCCTGGACACACACAGCACACATGGGGCGTAAGGAACCGCGCCTGCACACCACTCACGCACACACACAACATAACCAAGTGGCAGCCAGAGAGGCCAGGGAATGCTCAGAGGGCCGCCTTCGGGGCATCCATGTAGGCCGGGTTGTAAGGAGGCTGGCTGGCGGGGTAGGGCGCGGCTGCTCCTCCTGAAAGCAGAGAGGACCCTGGTTGGCTGTGAGCATGGTGGGCTGCCGTGTGAGTGGCAGGCAAGCAGAAAGGGGCAGAGGCCTGTTGAGTGATGTAGTTTGGGATGGGTGCCC
|
Task1_train_6750
|
A genetic alteration is present in ATRIP, ATRIP-TREX1, TREX1 (ATR interacting protein| ATRIP-TREX1 readthrough| three prime repair exonuclease 1) on Chromosome 3. Is this variant benign or disease-causing, and if the latter, which condition is involved?
|
Pathogenic; not provided
|
CCATTTTCTTTTATCTTCCTGCCTCAGTTCTTCTCCAAGCATATTGGGATGCCTTTTGCATCTATCTGTTGAGTGTGCCTGGCAGAGCCACGGTTTTTCCAGAAATAGCCGTGTCTGAATTGCCTTTGTATCACTTTGTTTGCAGTAGCTGAGGGAGCAGGGCCTGGGTGTGGAAGGGACTGGTTAGTTCCTGCGGACGTTGGGGGAGGAGAGGTGGGACCTGCCCTAGGCCCTGGCACCTTTGGGCCCTCACCAGGAACCTCTCCTTTTTGTCTCAGAGGCAGCCCTGGATGACCTCTGTGCCGCGGAAACCGATGTGGAAGACCCCGAGGTGGAGTGTGGCTGAGGCCCTGAGTGTCCAGCCACATGGTGGCACCAGCACCACTCCTTTCCTTACCACATCAACTGATTAAAGCAGTGACCAGCAGGAACTGCCCAGAGAACTGGCTGGCCTTGTTTCCTGAGTCTGATCTGTTTGGCGGAGTGGGAGGGGTGGAGCAGGACCCGGACCCTGAGTGGCTGGGATCCTTCTTCCTGTCCCTGGCTGTTGCTGAGCCCGTCCCCATGGTAACTGATCTGCCTTGAGGAAGGAGCCCTGCCCTGCCTGTGGAATTGTCCTGAGTCATTGCTTTGGGCTGGGGCCATGGGAAGAAACCATTGTGTGGCAGGGAAGGAGGTGGCTCTTGGCCCAGGCCTAAACCAGGAAAGCCTGGGAAACTGGGACCCACAGGTGGGCATGAAAGGGCCGCAGCAGGGGCTCCCAGCAGTGTGTAAGACCGGGAGCTGGTCTGGCACCACTGCCCTGGTCCTTCCAGCTGCCTGTCACTGGTATGATGGCCCCGGTGCATTGTGCCACCAGCAGGCCACAGCTGTGGATCTTGGAAGGCCTCTGGGGTCCCCCGGGAGCAGGGGAGTGGGTGTGGGGGGGAACGGATGGTGGTGAGAGGGACAGACCAGGCAGGCTGACGAGCAGGGCGGGCCTGGCTCACGTGGGCCTGTAGGCGGGCCCACGCCAAGTTTCACTTCCCGCCACTGCTGCCAGCGAGAGCCGCGGGAGAGTGTGCAGCCGAGTCACTACTGCCTGCCTGCCTGCCTGCTACGGTGAGTGTGGCCCCCACAATGGGATGGCGCAGGGCAGGAGGGCCATGGGTTCCCCCACCCCAGACTAAGGGGGCACTAGGGGAGGGGCCGAGTCATGTGAAGAGGGAGACCCTCTCAGACAGTCGAATGTGCTGGTCCCACTAAGGAAACCACCTCACCCTCTCCAACTTCCTGCCTGAAAATGGGCCCTGGAGCTCGCAGACAGGGCAGGATTGTGCAGGGAAGGCCTGAGATGTGCTTCTGCCCACCCCCTACCCCACTCCCTCCCCTTCGGATCTTAACACTGGGCACTCACACACCCACCCCATGCTCCTCTCCAGGCTCAGCAGCAGGTACGTACCCAACCATGGGCTCGCAGGCCCTGCCCCCGGGGCCCATGCAGACCCTCATCTTTTTCGACATGGAGGCCACTGGCTTGCCCTTCTCCCAGCCCAAGGTCACGGAGCTGTGCCTGCTGGCTGTCCACAGATGTGCCCTGGAGAGCCCCCCCACCTCTCAGGGGCCACCTCCCACAGTTCCTCCACCACCGCGTGTGGTAGACAAGCTCTCCCTGTGTGTGGCTCCGGGGAAGGCCTGCAGCCCTGCAGCCAGCGAGATCACAGGTCTGAGCACAGCTGTGCTGGCAGCGCATGGGCGTCAATGTTTTGATGACAACCTGGCCAACCTGCTCCTAGCCTTCCTGCGGCGCCAGCCACAGCCCTGGTGCCTGGTGGCACACAATGGTGACCGCTACGACTTCCCCCTGCTCCAAGCAGAGCTGGCTATGCTGGGCCTCACCAGTGCTCTGGATGGTGCCTTCTGTGTGGATAGCATCACTGCGCTGAAGGCCCTGGAGCGAGCAAGCAGCCCCTCAGAACACGGCCCAAGGAAGAGCTATAGCCTAGGCAGCATCTACACTCGCCTGTATGGGCAGTCCCCTCCAGACTCGCACACGGCTGAGGGTGATGTCCTGGCCCTGCTCAGCATCTGTCAGTGGAGACCACAGGCCCTGCTGCGGTGGGTGGATGCTCACGCCAGGCCTTTCGGCACCATCAGGCCCATGTATGGGGTCACAGCCTCTGCTAGGACCAAGCCAAGACCATCTGCTGTCACAACCACTGCACACCTGGCCACAACCAGGAACACTAGTCCCAGCCTTGGAGAGAGCAGGGGTACCAAGGATCTTCCTCCAGTGAAGGACCCTGGAGCCCTATCCAGGGAGGGGCTGCTGGCCCCACTGGGTCTGCTGGCCATCCTGACCTTGGCAGTAGCCACACTGTATGGACTATCCCTGGCCACACCTGGGGAGTAGGCCAAGAAGGAAAATCTGACGAATAAAGACCCCCGCTGCCCCATAGCACTGAGTGGTCAATTGGCTCCTACCCTTCTTGGCAGCACAGACCTCTGCCCACACCCAGGGACCTGGGGAGGAGGGCACAGTGTTTGTCCCTCACTTTCCCTAGCAGGATGGTCAACTATCTGAGCCCAGTAAAAGTAGGGAAAACACAGAGAAGCCCAAATGGATGGAAAGAGTACAGCCTGATTCCAATTCCAGCAGCCGAGGCCAGGAAGAAAGGGGGCAGCAGCTCCAAACGATTGCATTTATTATAAACAAGTGTACAGACCCTAGACTCAGAAACACAACAGATTTGAGCTAAGACAGCTCTGGTGAAACAGTAATAGAGGGAGGAGGAACACGAGGTATTCATGTCTGGGCCAGAGCTGCCATCCAGGGCCCCACACCCCACCTTTGGTCCAGATGGCCCATTGGCCCAGGTGTCCCTGCTGCCAGAACACCGTGGACTGGGGTACAGGAGTTGTTGCATATTCCATGAGGCTGGTGTCGGGAAGCAGGGACTCACAGTTGCCAGGTTGTCCATCTCTGAGCCAATTTCCCTCCACAACCCAGGGGTTTCAGTCTCATATCAACTATCATGTTTGAAACAGAAAACAGGCAAAATGTTTGGCTAAAATAAAATGAAAACACTGCAGGGAAGAGAACTGAGTGTGCTGGTGGACAGGAGCCCTGCTCACCTGTGGGAAGGGCAGGGCCAGCAAGGGCAGCAGAGCTCCCTGGGGGCAGCTAGGCTGTGTGTGCATGTGGCCCTCCAGCTGGTCCCAGGGGAGATGCGGGGACAGGGGACAGTCCAGGCAGACAGGTACAGCTGAGTAGGGCTCTGCCTGAGGTGTTCTGGCATCAGGAGGCTGCCTGATCCCCAACAGGCATGACAGGCTCCAGGGAGCAATGGGACATCTGCCCAAAGGATCAAAGTCCAACTTGGCCAGATCCCAAGCTTCGCCTGCATCATGTCCCTGGCTCTGCAACGGGTACCCCCAACTCCGGGGACGAGCCATGGCCTCAAGCAGCAGCTGGCTACGCTGCCGAAACCAGGACACATCTGCATCACACAGAAAGCTGCGCCACCCTGGTGTGACAGGCCCTACTTGGTCACCCTAGGGTAAGCTGGAGAAGAACTCCAGATGTGCCCTGGAGAGGCCCCCACCTCTCAGGGGCCACCTCACAGGGTGCCCCCCACCACCCCATTCTTTGAGTTTGGCTTGAGATTTTAGGAAGCATAATTTCAGGTGAGGAAGAGAACAAAGTCTGGTCCCAGCCCACTCTGGCAAGGATTGTTCCCCACCTTGTCAGCATCAGAGGAAGCCACATATACAGGCAGGACACACACAGCACACATGGGGCGTAAGGAACCGTGCCTGGACACACACAGCACACATGGGGCGTAAGGAACCGCGCCTGCACACCACTCACGCACACACACAACATAACCAAGTGGCAGCCAGAGAGGCCAGGGAATGCTCAGAGGGCCGCCTTCGGGGCATCCATGTAGGCCGGGTTGTAAGGAGGCTGGCTGGCGGGGTAGGGCGCGGCTGCTCCTCCTGAAAGCAGAGAGGACCCTGGTTGGCTGTGAGCATGGTGGGCTGCCGTGTGAGTGGCAGGCAAGCAGAAAGGGGCAGAGGCCTGTTGAGTGATGTAGTTTGGGATGGGTGCCCGAGG
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CCATTTTCTTTTATCTTCCTGCCTCAGTTCTTCTCCAAGCATATTGGGATGCCTTTTGCATCTATCTGTTGAGTGTGCCTGGCAGAGCCACGGTTTTTCCAGAAATAGCCGTGTCTGAATTGCCTTTGTATCACTTTGTTTGCAGTAGCTGAGGGAGCAGGGCCTGGGTGTGGAAGGGACTGGTTAGTTCCTGCGGACGTTGGGGGAGGAGAGGTGGGACCTGCCCTAGGCCCTGGCACCTTTGGGCCCTCACCAGGAACCTCTCCTTTTTGTCTCAGAGGCAGCCCTGGATGACCTCTGTGCCGCGGAAACCGATGTGGAAGACCCCGAGGTGGAGTGTGGCTGAGGCCCTGAGTGTCCAGCCACATGGTGGCACCAGCACCACTCCTTTCCTTACCACATCAACTGATTAAAGCAGTGACCAGCAGGAACTGCCCAGAGAACTGGCTGGCCTTGTTTCCTGAGTCTGATCTGTTTGGCGGAGTGGGAGGGGTGGAGCAGGACCCGGACCCTGAGTGGCTGGGATCCTTCTTCCTGTCCCTGGCTGTTGCTGAGCCCGTCCCCATGGTAACTGATCTGCCTTGAGGAAGGAGCCCTGCCCTGCCTGTGGAATTGTCCTGAGTCATTGCTTTGGGCTGGGGCCATGGGAAGAAACCATTGTGTGGCAGGGAAGGAGGTGGCTCTTGGCCCAGGCCTAAACCAGGAAAGCCTGGGAAACTGGGACCCACAGGTGGGCATGAAAGGGCCGCAGCAGGGGCTCCCAGCAGTGTGTAAGACCGGGAGCTGGTCTGGCACCACTGCCCTGGTCCTTCCAGCTGCCTGTCACTGGTATGATGGCCCCGGTGCATTGTGCCACCAGCAGGCCACAGCTGTGGATCTTGGAAGGCCTCTGGGGTCCCCCGGGAGCAGGGGAGTGGGTGTGGGGGGGAACGGATGGTGGTGAGAGGGACAGACCAGGCAGGCTGACGAGCAGGGCGGGCCTGGCTCACGTGGGCCTGTAGGCGGGCCCACGCCAAGTTTCACTTCCCGCCACTGCTGCCAGCGAGAGCCGCGGGAGAGTGTGCAGCCGAGTCACTACTGCCTGCCTGCCTGCCTGCTACGGTGAGTGTGGCCCCCACAATGGGATGGCGCAGGGCAGGAGGGCCATGGGTTCCCCCACCCCAGACTAAGGGGGCACTAGGGGAGGGGCCGAGTCATGTGAAGAGGGAGACCCTCTCAGACAGTCGAATGTGCTGGTCCCACTAAGGAAACCACCTCACCCTCTCCAACTTCCTGCCTGAAAATGGGCCCTGGAGCTCGCAGACAGGGCAGGATTGTGCAGGGAAGGCCTGAGATGTGCTTCTGCCCACCCCCTACCCCACTCCCTCCCCTTCGGATCTTAACACTGGGCACTCACACACCCACCCCATGCTCCTCTCCAGGCTCAGCAGCAGGTACGTACCCAACCATGGGCTCGCAGGCCCTGCCCCCGGGGCCCATGCAGACCCTCATCTTTTTCGACATGGAGGCCACTGGCTTGCCCTTCTCCCAGCCCAAGGTCACGGAGCTGTGCCTGCTGGCTGTCCACAGATGTGCCCTGGAGAGCCCCCCCACCTCTCAGGGGCCACCTCCCACAGTTCCTCCACCACCGCGTGTGGTAGACAAGCTCTCCCTGTGTGTGGCTCCGGGGAAGGCCTGCAGCCCTGCAGCCAGCGAGATCACAGGTCTGAGCACAGCTGTGCTGGCAGCGCATGGGCGTCAATGTTTTGATGACAACCTGGCCAACCTGCTCCTAGCCTTCCTGCGGCGCCAGCCACAGCCCTGGTGCCTGGTGGCACACAATGGTGACCGCTACGACTTCCCCCTGCTCCAAGCAGAGCTGGCTATGCTGGGCCTCACCAGTGCTCTGGATGGTGCCTTCTGTGTGGATAGCATCACTGCGCTGAAGGCCCTGGAGCGAGCAAGCAGCCCCTCAGAACACGGCCCAAGGAAGAGCTATAGCCTAGGCAGCATCTACACTCGCCTGTATGGGCAGTCCCCTCCAGACTCGCACACGGCTGAGGGTGATGACCTGGCCCTGCTCAGCATCTGTCAGTGGAGACCACAGGCCCTGCTGCGGTGGGTGGATGCTCACGCCAGGCCTTTCGGCACCATCAGGCCCATGTATGGGGTCACAGCCTCTGCTAGGACCAAGCCAAGACCATCTGCTGTCACAACCACTGCACACCTGGCCACAACCAGGAACACTAGTCCCAGCCTTGGAGAGAGCAGGGGTACCAAGGATCTTCCTCCAGTGAAGGACCCTGGAGCCCTATCCAGGGAGGGGCTGCTGGCCCCACTGGGTCTGCTGGCCATCCTGACCTTGGCAGTAGCCACACTGTATGGACTATCCCTGGCCACACCTGGGGAGTAGGCCAAGAAGGAAAATCTGACGAATAAAGACCCCCGCTGCCCCATAGCACTGAGTGGTCAATTGGCTCCTACCCTTCTTGGCAGCACAGACCTCTGCCCACACCCAGGGACCTGGGGAGGAGGGCACAGTGTTTGTCCCTCACTTTCCCTAGCAGGATGGTCAACTATCTGAGCCCAGTAAAAGTAGGGAAAACACAGAGAAGCCCAAATGGATGGAAAGAGTACAGCCTGATTCCAATTCCAGCAGCCGAGGCCAGGAAGAAAGGGGGCAGCAGCTCCAAACGATTGCATTTATTATAAACAAGTGTACAGACCCTAGACTCAGAAACACAACAGATTTGAGCTAAGACAGCTCTGGTGAAACAGTAATAGAGGGAGGAGGAACACGAGGTATTCATGTCTGGGCCAGAGCTGCCATCCAGGGCCCCACACCCCACCTTTGGTCCAGATGGCCCATTGGCCCAGGTGTCCCTGCTGCCAGAACACCGTGGACTGGGGTACAGGAGTTGTTGCATATTCCATGAGGCTGGTGTCGGGAAGCAGGGACTCACAGTTGCCAGGTTGTCCATCTCTGAGCCAATTTCCCTCCACAACCCAGGGGTTTCAGTCTCATATCAACTATCATGTTTGAAACAGAAAACAGGCAAAATGTTTGGCTAAAATAAAATGAAAACACTGCAGGGAAGAGAACTGAGTGTGCTGGTGGACAGGAGCCCTGCTCACCTGTGGGAAGGGCAGGGCCAGCAAGGGCAGCAGAGCTCCCTGGGGGCAGCTAGGCTGTGTGTGCATGTGGCCCTCCAGCTGGTCCCAGGGGAGATGCGGGGACAGGGGACAGTCCAGGCAGACAGGTACAGCTGAGTAGGGCTCTGCCTGAGGTGTTCTGGCATCAGGAGGCTGCCTGATCCCCAACAGGCATGACAGGCTCCAGGGAGCAATGGGACATCTGCCCAAAGGATCAAAGTCCAACTTGGCCAGATCCCAAGCTTCGCCTGCATCATGTCCCTGGCTCTGCAACGGGTACCCCCAACTCCGGGGACGAGCCATGGCCTCAAGCAGCAGCTGGCTACGCTGCCGAAACCAGGACACATCTGCATCACACAGAAAGCTGCGCCACCCTGGTGTGACAGGCCCTACTTGGTCACCCTAGGGTAAGCTGGAGAAGAACTCCAGATGTGCCCTGGAGAGGCCCCCACCTCTCAGGGGCCACCTCACAGGGTGCCCCCCACCACCCCATTCTTTGAGTTTGGCTTGAGATTTTAGGAAGCATAATTTCAGGTGAGGAAGAGAACAAAGTCTGGTCCCAGCCCACTCTGGCAAGGATTGTTCCCCACCTTGTCAGCATCAGAGGAAGCCACATATACAGGCAGGACACACACAGCACACATGGGGCGTAAGGAACCGTGCCTGGACACACACAGCACACATGGGGCGTAAGGAACCGCGCCTGCACACCACTCACGCACACACACAACATAACCAAGTGGCAGCCAGAGAGGCCAGGGAATGCTCAGAGGGCCGCCTTCGGGGCATCCATGTAGGCCGGGTTGTAAGGAGGCTGGCTGGCGGGGTAGGGCGCGGCTGCTCCTCCTGAAAGCAGAGAGGACCCTGGTTGGCTGTGAGCATGGTGGGCTGCCGTGTGAGTGGCAGGCAAGCAGAAAGGGGCAGAGGCCTGTTGAGTGATGTAGTTTGGGATGGGTGCCCGAGG
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Task1_train_6751
|
This mutation is located in gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is it associated with a disease or is it a benign polymorphism?
|
Pathogenic; not provided
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GCGATAGGACAATGCGCGAGCCAGGGTGGCGGGTGGGGCTGCAGTGGCTCTGGGCAGCCCACGGCCATGTGGGAGCAGCTGAGGGGCTCTCTGAGGCCGCAGGTCGGGGAGTGGTCTGGGGAGAATTCTGAGGGCGGAGCTGGAAGGTTGGGATAGGGGTCACTGGGACAACCAGGACTCTGCCCAACATCAGGACCATCAGCAACAGCAGAGCACACCTGGTCATCGTGAGGTCAGGCTGCAAGGAGAAAATGGGCTCAGGGCAGGGGCTCTGGTCAACTGGGGTCCATGGACAGAGACAGATGGCAAGGGCAGAGTGACAGAGCGGGGGATGGAGAGAGAGGAAGACACCGAGAAAGGGGTTAGAGAGGCCAGGCCAGGCCAGAGACAGAGAAGGGGAGACAAGAGGAGAGCCAGAATGAGACAAAGAGGCAGAAAGCAAGACAGAAAAAAAGAAACAAAGAAATCCAGAGACAGAGGGACAGCAAGAGAGGGAGATGAAGGAGATGGAGGCAGAGCAAAATGGAGACTAGAAGAAAAAGACAGACAGAAACCATCCCAGAGACAGACAGCATGATGGAAAGAAAGATTCAGACAGAAACACAGAGTCCACAGGAGGGCAGGCGGTTCTCAGCAGGAGAGCTTGCAGCTGATCCAGGAAACAGAAGGGCAGGAATCGGATCTCAGAGGCAGAAAAGCAGCCAGAGATCCCAGAGTCCCCTGGGTCCAAGCCCTCCATAAAGCCAAACCCCACATCCACTCAACCTCCAAGACCCTTCCCATCCCGACCCAACCCAGTCCTACCGCCACCAGCTGCTTCTGGGGTAAGGCAGCCTGCTGTGGCTGCCTGGGGCTGGGGCCAGGCACTACTGTCCTGTGGTCTGACCCTCTACCCCGCTTCAGGGCCCATTTATCTCCCTCAGCCCCCTGGGGTGGGAGCTGGTACATGCTTCCTGGCATGAGGCAGCCCCCCACCTATGACTCATCCCTCCCGGGGGTGTCCTTAGCCCCCACCCTATCTACTCTTTTCCGGGGACAAGTTGGGGACTGAGAATCACAAGACAGTGACCAGGACTGGGCAGAGGGACTCTGTACCCATGCAGAATAATACCAACCCCCCAAGGAAAACCTTCCCCCTTGAAACCCCCCATCTTCCCAAACAGTCACAACAGGAGCCTTTTAAAACAGCAGCTTTAATGCCCCCCAGAATCAGCACCATGTCATCACAGGCTTGGGTCAAGGGGCGGGTCAGACGCCAGTCACATCCGCTCACTGCCCACAGCCACCCCCCCACAGTGAGTCATCTGCCAGGGTGGCAGGAGCCACAATGGGGGTTTGTCCACAGGGGGGAAGGCTAGACCCACGGGACCAAGTCACTGAAATAACGGACGTGCACACGCACGCTCACGTGCACACAAGCCTCTAGCACCAAGGGGAGGGACAGTGGGGTTCTGCTGAGACCCCGACTCCTCCAGGGGATGCTGAATCTCAGCTCATTATCTGGGCCTCAGTCCTGGGCAGTACCTGGTGAGGACAGGTTGGAAACGGTCGTCAGCCATCTGACCTTCCCCGGAGACGCTCAGGCAGAGGCACCGCCAAGGGGAGGGAGCGGAGGCTACAACAGGAAGTGGGGGCTCTGACCTCAGAGGGGTCCATACTTAGGTCTTTAAAGGAGGGAACATGGAAGGGGACCCTACTGGGGGCTCCACGGCTGGGGCTCTATATTCAGCTCTTTGGTCTGGGCGTCTGCCCCAGGTCCCCTACTGCGAGGGAGCGTCTCCTCCAGGACCCTGACCTGGAACCCTGGCCCAAGGACTCCTCCCCCAGAACCCGATCCAGGCAGGCTCAGTGCCCAGTTCCCCACGGTGGGGGCTCAGCCCATACCTGTCCCCTGGCTCTGGACCACCCGGGGTGGGCAGCGGCGCTCGCAGGCCTCACGGGTCCCAAAACGGTTGGCATTCCCTCCACAGCCACCATAGACAAAAGGGTGACAGGCCTCTGTGCTGCCTGTCACAGCCCGATGGTACCAGCGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGG
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GCGATAGGACAATGCGCGAGCCAGGGTGGCGGGTGGGGCTGCAGTGGCTCTGGGCAGCCCACGGCCATGTGGGAGCAGCTGAGGGGCTCTCTGAGGCCGCAGGTCGGGGAGTGGTCTGGGGAGAATTCTGAGGGCGGAGCTGGAAGGTTGGGATAGGGGTCACTGGGACAACCAGGACTCTGCCCAACATCAGGACCATCAGCAACAGCAGAGCACACCTGGTCATCGTGAGGTCAGGCTGCAAGGAGAAAATGGGCTCAGGGCAGGGGCTCTGGTCAACTGGGGTCCATGGACAGAGACAGATGGCAAGGGCAGAGTGACAGAGCGGGGGATGGAGAGAGAGGAAGACACCGAGAAAGGGGTTAGAGAGGCCAGGCCAGGCCAGAGACAGAGAAGGGGAGACAAGAGGAGAGCCAGAATGAGACAAAGAGGCAGAAAGCAAGACAGAAAAAAAGAAACAAAGAAATCCAGAGACAGAGGGACAGCAAGAGAGGGAGATGAAGGAGATGGAGGCAGAGCAAAATGGAGACTAGAAGAAAAAGACAGACAGAAACCATCCCAGAGACAGACAGCATGATGGAAAGAAAGATTCAGACAGAAACACAGAGTCCACAGGAGGGCAGGCGGTTCTCAGCAGGAGAGCTTGCAGCTGATCCAGGAAACAGAAGGGCAGGAATCGGATCTCAGAGGCAGAAAAGCAGCCAGAGATCCCAGAGTCCCCTGGGTCCAAGCCCTCCATAAAGCCAAACCCCACATCCACTCAACCTCCAAGACCCTTCCCATCCCGACCCAACCCAGTCCTACCGCCACCAGCTGCTTCTGGGGTAAGGCAGCCTGCTGTGGCTGCCTGGGGCTGGGGCCAGGCACTACTGTCCTGTGGTCTGACCCTCTACCCCGCTTCAGGGCCCATTTATCTCCCTCAGCCCCCTGGGGTGGGAGCTGGTACATGCTTCCTGGCATGAGGCAGCCCCCCACCTATGACTCATCCCTCCCGGGGGTGTCCTTAGCCCCCACCCTATCTACTCTTTTCCGGGGACAAGTTGGGGACTGAGAATCACAAGACAGTGACCAGGACTGGGCAGAGGGACTCTGTACCCATGCAGAATAATACCAACCCCCCAAGGAAAACCTTCCCCCTTGAAACCCCCCATCTTCCCAAACAGTCACAACAGGAGCCTTTTAAAACAGCAGCTTTAATGCCCCCCAGAATCAGCACCATGTCATCACAGGCTTGGGTCAAGGGGCGGGTCAGACGCCAGTCACATCCGCTCACTGCCCACAGCCACCCCCCCACAGTGAGTCATCTGCCAGGGTGGCAGGAGCCACAATGGGGGTTTGTCCACAGGGGGGAAGGCTAGACCCACGGGACCAAGTCACTGAAATAACGGACGTGCACACGCACGCTCACGTGCACACAAGCCTCTAGCACCAAGGGGAGGGACAGTGGGGTTCTGCTGAGACCCCGACTCCTCCAGGGGATGCTGAATCTCAGCTCATTATCTGGGCCTCAGTCCTGGGCAGTACCTGGTGAGGACAGGTTGGAAACGGTCGTCAGCCATCTGACCTTCCCCGGAGACGCTCAGGCAGAGGCACCGCCAAGGGGAGGGAGCGGAGGCTACAACAGGAAGTGGGGGCTCTGACCTCAGAGGGGTCCATACTTAGGTCTTTAAAGGAGGGAACATGGAAGGGGACCCTACTGGGGGCTCCACGGCTGGGGCTCTATATTCAGCTCTTTGGTCTGGGCGTCTGCCCCAGGTCCCCTACTGCGAGGGAGCGTCTCCTCCAGGACCCTGACCTGGAACCCTGGCCCAAGGACTCCTCCCCCAGAACCCGATCCAGGCAGGCTCAGTGCCCAGTTCCCCACGGTGGGGGCTCAGCCCATACCTGTCCCCTGGCTCTGGACCACCCGGGGTGGGCAGCGGCGCTCGCAGGCCTCACGGGTCCCAAAACGGTTGGCATTCCCTCCACAGCCACCATAGACAAAAGGGTGACAGGCCTCTGTGCTGCCTGTCACAGCCCGATGGTACCAGCGCAGGGTGTAGGCAGTGTAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGG
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Task1_train_6752
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A variant affecting Chromosome 3, within the gene COL7A1 (collagen type VII alpha 1 chain), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Epidermolysis bullosa dystrophica
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GAGCACACCTGGTCATCGTGAGGTCAGGCTGCAAGGAGAAAATGGGCTCAGGGCAGGGGCTCTGGTCAACTGGGGTCCATGGACAGAGACAGATGGCAAGGGCAGAGTGACAGAGCGGGGGATGGAGAGAGAGGAAGACACCGAGAAAGGGGTTAGAGAGGCCAGGCCAGGCCAGAGACAGAGAAGGGGAGACAAGAGGAGAGCCAGAATGAGACAAAGAGGCAGAAAGCAAGACAGAAAAAAAGAAACAAAGAAATCCAGAGACAGAGGGACAGCAAGAGAGGGAGATGAAGGAGATGGAGGCAGAGCAAAATGGAGACTAGAAGAAAAAGACAGACAGAAACCATCCCAGAGACAGACAGCATGATGGAAAGAAAGATTCAGACAGAAACACAGAGTCCACAGGAGGGCAGGCGGTTCTCAGCAGGAGAGCTTGCAGCTGATCCAGGAAACAGAAGGGCAGGAATCGGATCTCAGAGGCAGAAAAGCAGCCAGAGATCCCAGAGTCCCCTGGGTCCAAGCCCTCCATAAAGCCAAACCCCACATCCACTCAACCTCCAAGACCCTTCCCATCCCGACCCAACCCAGTCCTACCGCCACCAGCTGCTTCTGGGGTAAGGCAGCCTGCTGTGGCTGCCTGGGGCTGGGGCCAGGCACTACTGTCCTGTGGTCTGACCCTCTACCCCGCTTCAGGGCCCATTTATCTCCCTCAGCCCCCTGGGGTGGGAGCTGGTACATGCTTCCTGGCATGAGGCAGCCCCCCACCTATGACTCATCCCTCCCGGGGGTGTCCTTAGCCCCCACCCTATCTACTCTTTTCCGGGGACAAGTTGGGGACTGAGAATCACAAGACAGTGACCAGGACTGGGCAGAGGGACTCTGTACCCATGCAGAATAATACCAACCCCCCAAGGAAAACCTTCCCCCTTGAAACCCCCCATCTTCCCAAACAGTCACAACAGGAGCCTTTTAAAACAGCAGCTTTAATGCCCCCCAGAATCAGCACCATGTCATCACAGGCTTGGGTCAAGGGGCGGGTCAGACGCCAGTCACATCCGCTCACTGCCCACAGCCACCCCCCCACAGTGAGTCATCTGCCAGGGTGGCAGGAGCCACAATGGGGGTTTGTCCACAGGGGGGAAGGCTAGACCCACGGGACCAAGTCACTGAAATAACGGACGTGCACACGCACGCTCACGTGCACACAAGCCTCTAGCACCAAGGGGAGGGACAGTGGGGTTCTGCTGAGACCCCGACTCCTCCAGGGGATGCTGAATCTCAGCTCATTATCTGGGCCTCAGTCCTGGGCAGTACCTGGTGAGGACAGGTTGGAAACGGTCGTCAGCCATCTGACCTTCCCCGGAGACGCTCAGGCAGAGGCACCGCCAAGGGGAGGGAGCGGAGGCTACAACAGGAAGTGGGGGCTCTGACCTCAGAGGGGTCCATACTTAGGTCTTTAAAGGAGGGAACATGGAAGGGGACCCTACTGGGGGCTCCACGGCTGGGGCTCTATATTCAGCTCTTTGGTCTGGGCGTCTGCCCCAGGTCCCCTACTGCGAGGGAGCGTCTCCTCCAGGACCCTGACCTGGAACCCTGGCCCAAGGACTCCTCCCCCAGAACCCGATCCAGGCAGGCTCAGTGCCCAGTTCCCCACGGTGGGGGCTCAGCCCATACCTGTCCCCTGGCTCTGGACCACCCGGGGTGGGCAGCGGCGCTCGCAGGCCTCACGGGTCCCAAAACGGTTGGCATTCCCTCCACAGCCACCATAGACAAAAGGGTGACAGGCCTCTGTGCTGCCTGTCACAGCCCGATGGTACCAGCGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGA
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GAGCACACCTGGTCATCGTGAGGTCAGGCTGCAAGGAGAAAATGGGCTCAGGGCAGGGGCTCTGGTCAACTGGGGTCCATGGACAGAGACAGATGGCAAGGGCAGAGTGACAGAGCGGGGGATGGAGAGAGAGGAAGACACCGAGAAAGGGGTTAGAGAGGCCAGGCCAGGCCAGAGACAGAGAAGGGGAGACAAGAGGAGAGCCAGAATGAGACAAAGAGGCAGAAAGCAAGACAGAAAAAAAGAAACAAAGAAATCCAGAGACAGAGGGACAGCAAGAGAGGGAGATGAAGGAGATGGAGGCAGAGCAAAATGGAGACTAGAAGAAAAAGACAGACAGAAACCATCCCAGAGACAGACAGCATGATGGAAAGAAAGATTCAGACAGAAACACAGAGTCCACAGGAGGGCAGGCGGTTCTCAGCAGGAGAGCTTGCAGCTGATCCAGGAAACAGAAGGGCAGGAATCGGATCTCAGAGGCAGAAAAGCAGCCAGAGATCCCAGAGTCCCCTGGGTCCAAGCCCTCCATAAAGCCAAACCCCACATCCACTCAACCTCCAAGACCCTTCCCATCCCGACCCAACCCAGTCCTACCGCCACCAGCTGCTTCTGGGGTAAGGCAGCCTGCTGTGGCTGCCTGGGGCTGGGGCCAGGCACTACTGTCCTGTGGTCTGACCCTCTACCCCGCTTCAGGGCCCATTTATCTCCCTCAGCCCCCTGGGGTGGGAGCTGGTACATGCTTCCTGGCATGAGGCAGCCCCCCACCTATGACTCATCCCTCCCGGGGGTGTCCTTAGCCCCCACCCTATCTACTCTTTTCCGGGGACAAGTTGGGGACTGAGAATCACAAGACAGTGACCAGGACTGGGCAGAGGGACTCTGTACCCATGCAGAATAATACCAACCCCCCAAGGAAAACCTTCCCCCTTGAAACCCCCCATCTTCCCAAACAGTCACAACAGGAGCCTTTTAAAACAGCAGCTTTAATGCCCCCCAGAATCAGCACCATGTCATCACAGGCTTGGGTCAAGGGGCGGGTCAGACGCCAGTCACATCCGCTCACTGCCCACAGCCACCCCCCCACAGTGAGTCATCTGCCAGGGTGGCAGGAGCCACAATGGGGGTTTGTCCACAGGGGGGAAGGCTAGACCCACGGGACCAAGTCACTGAAATAACGGACGTGCACACGCACGCTCACGTGCACACAAGCCTCTAGCACCAAGGGGAGGGACAGTGGGGTTCTGCTGAGACCCCGACTCCTCCAGGGGATGCTGAATCTCAGCTCATTATCTGGGCCTCAGTCCTGGGCAGTACCTGGTGAGGACAGGTTGGAAACGGTCGTCAGCCATCTGACCTTCCCCGGAGACGCTCAGGCAGAGGCACCGCCAAGGGGAGGGAGCGGAGGCTACAACAGGAAGTGGGGGCTCTGACCTCAGAGGGGTCCATACTTAGGTCTTTAAAGGAGGGAACATGGAAGGGGACCCTACTGGGGGCTCCACGGCTGGGGCTCTATATTCAGCTCTTTGGTCTGGGCGTCTGCCCCAGGTCCCCTACTGCGAGGGAGCGTCTCCTCCAGGACCCTGACCTGGAACCCTGGCCCAAGGACTCCTCCCCCAGAACCCGATCCAGGCAGGCTCAGTGCCCAGTTCCCCACGGTGGGGGCTCAGCCCATACCTGTCCCCTGGCTCTGGACCACCCGGGGTGGGCAGCGGCGCTCGCAGGCCTCACGGGTCCCAAAACGGTTGGCATTCCCTCCACAGCCACCATAGACAAAAGGGTGACAGGCCTCTGTGCTGCCTGTCACAGCCCGATGGTACCAGCGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATGCTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGA
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Task1_train_6753
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Mutation context: Chromosome 3, Gene COL7A1 (collagen type VII alpha 1 chain). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Recessive dystrophic epidermolysis bullosa
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TTTGTCCACAGGGGGGAAGGCTAGACCCACGGGACCAAGTCACTGAAATAACGGACGTGCACACGCACGCTCACGTGCACACAAGCCTCTAGCACCAAGGGGAGGGACAGTGGGGTTCTGCTGAGACCCCGACTCCTCCAGGGGATGCTGAATCTCAGCTCATTATCTGGGCCTCAGTCCTGGGCAGTACCTGGTGAGGACAGGTTGGAAACGGTCGTCAGCCATCTGACCTTCCCCGGAGACGCTCAGGCAGAGGCACCGCCAAGGGGAGGGAGCGGAGGCTACAACAGGAAGTGGGGGCTCTGACCTCAGAGGGGTCCATACTTAGGTCTTTAAAGGAGGGAACATGGAAGGGGACCCTACTGGGGGCTCCACGGCTGGGGCTCTATATTCAGCTCTTTGGTCTGGGCGTCTGCCCCAGGTCCCCTACTGCGAGGGAGCGTCTCCTCCAGGACCCTGACCTGGAACCCTGGCCCAAGGACTCCTCCCCCAGAACCCGATCCAGGCAGGCTCAGTGCCCAGTTCCCCACGGTGGGGGCTCAGCCCATACCTGTCCCCTGGCTCTGGACCACCCGGGGTGGGCAGCGGCGCTCGCAGGCCTCACGGGTCCCAAAACGGTTGGCATTCCCTCCACAGCCACCATAGACAAAAGGGTGACAGGCCTCTGTGCTGCCTGTCACAGCCCGATGGTACCAGCGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGG
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TTTGTCCACAGGGGGGAAGGCTAGACCCACGGGACCAAGTCACTGAAATAACGGACGTGCACACGCACGCTCACGTGCACACAAGCCTCTAGCACCAAGGGGAGGGACAGTGGGGTTCTGCTGAGACCCCGACTCCTCCAGGGGATGCTGAATCTCAGCTCATTATCTGGGCCTCAGTCCTGGGCAGTACCTGGTGAGGACAGGTTGGAAACGGTCGTCAGCCATCTGACCTTCCCCGGAGACGCTCAGGCAGAGGCACCGCCAAGGGGAGGGAGCGGAGGCTACAACAGGAAGTGGGGGCTCTGACCTCAGAGGGGTCCATACTTAGGTCTTTAAAGGAGGGAACATGGAAGGGGACCCTACTGGGGGCTCCACGGCTGGGGCTCTATATTCAGCTCTTTGGTCTGGGCGTCTGCCCCAGGTCCCCTACTGCGAGGGAGCGTCTCCTCCAGGACCCTGACCTGGAACCCTGGCCCAAGGACTCCTCCCCCAGAACCCGATCCAGGCAGGCTCAGTGCCCAGTTCCCCACGGTGGGGGCTCAGCCCATACCTGTCCCCTGGCTCTGGACCACCCGGGGTGGGCAGCGGCGCTCGCAGGCCTCACGGGTCCCAAAACGGTTGGCATTCCCTCCACAGCCACCATAGACAAAAGGGTGACAGGCCTCTGTGCTGCCTGTCACAGCCCGATGGTACCAGCGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCTTCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGG
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Task1_train_6754
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Given this context: Chromosome 3, gene COL7A1 (collagen type VII alpha 1 chain) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Pretibial dystrophic epidermolysis bullosa
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TTTGTCCACAGGGGGGAAGGCTAGACCCACGGGACCAAGTCACTGAAATAACGGACGTGCACACGCACGCTCACGTGCACACAAGCCTCTAGCACCAAGGGGAGGGACAGTGGGGTTCTGCTGAGACCCCGACTCCTCCAGGGGATGCTGAATCTCAGCTCATTATCTGGGCCTCAGTCCTGGGCAGTACCTGGTGAGGACAGGTTGGAAACGGTCGTCAGCCATCTGACCTTCCCCGGAGACGCTCAGGCAGAGGCACCGCCAAGGGGAGGGAGCGGAGGCTACAACAGGAAGTGGGGGCTCTGACCTCAGAGGGGTCCATACTTAGGTCTTTAAAGGAGGGAACATGGAAGGGGACCCTACTGGGGGCTCCACGGCTGGGGCTCTATATTCAGCTCTTTGGTCTGGGCGTCTGCCCCAGGTCCCCTACTGCGAGGGAGCGTCTCCTCCAGGACCCTGACCTGGAACCCTGGCCCAAGGACTCCTCCCCCAGAACCCGATCCAGGCAGGCTCAGTGCCCAGTTCCCCACGGTGGGGGCTCAGCCCATACCTGTCCCCTGGCTCTGGACCACCCGGGGTGGGCAGCGGCGCTCGCAGGCCTCACGGGTCCCAAAACGGTTGGCATTCCCTCCACAGCCACCATAGACAAAAGGGTGACAGGCCTCTGTGCTGCCTGTCACAGCCCGATGGTACCAGCGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGG
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TTTGTCCACAGGGGGGAAGGCTAGACCCACGGGACCAAGTCACTGAAATAACGGACGTGCACACGCACGCTCACGTGCACACAAGCCTCTAGCACCAAGGGGAGGGACAGTGGGGTTCTGCTGAGACCCCGACTCCTCCAGGGGATGCTGAATCTCAGCTCATTATCTGGGCCTCAGTCCTGGGCAGTACCTGGTGAGGACAGGTTGGAAACGGTCGTCAGCCATCTGACCTTCCCCGGAGACGCTCAGGCAGAGGCACCGCCAAGGGGAGGGAGCGGAGGCTACAACAGGAAGTGGGGGCTCTGACCTCAGAGGGGTCCATACTTAGGTCTTTAAAGGAGGGAACATGGAAGGGGACCCTACTGGGGGCTCCACGGCTGGGGCTCTATATTCAGCTCTTTGGTCTGGGCGTCTGCCCCAGGTCCCCTACTGCGAGGGAGCGTCTCCTCCAGGACCCTGACCTGGAACCCTGGCCCAAGGACTCCTCCCCCAGAACCCGATCCAGGCAGGCTCAGTGCCCAGTTCCCCACGGTGGGGGCTCAGCCCATACCTGTCCCCTGGCTCTGGACCACCCGGGGTGGGCAGCGGCGCTCGCAGGCCTCACGGGTCCCAAAACGGTTGGCATTCCCTCCACAGCCACCATAGACAAAAGGGTGACAGGCCTCTGTGCTGCCTGTCACAGCCCGATGGTACCAGCGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCTTCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGG
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Task1_train_6755
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The variant affects gene COL7A1 (collagen type VII alpha 1 chain), which is on Chromosome 3. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Dominant dystrophic epidermolysis bullosa with absence of skin
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TTTGTCCACAGGGGGGAAGGCTAGACCCACGGGACCAAGTCACTGAAATAACGGACGTGCACACGCACGCTCACGTGCACACAAGCCTCTAGCACCAAGGGGAGGGACAGTGGGGTTCTGCTGAGACCCCGACTCCTCCAGGGGATGCTGAATCTCAGCTCATTATCTGGGCCTCAGTCCTGGGCAGTACCTGGTGAGGACAGGTTGGAAACGGTCGTCAGCCATCTGACCTTCCCCGGAGACGCTCAGGCAGAGGCACCGCCAAGGGGAGGGAGCGGAGGCTACAACAGGAAGTGGGGGCTCTGACCTCAGAGGGGTCCATACTTAGGTCTTTAAAGGAGGGAACATGGAAGGGGACCCTACTGGGGGCTCCACGGCTGGGGCTCTATATTCAGCTCTTTGGTCTGGGCGTCTGCCCCAGGTCCCCTACTGCGAGGGAGCGTCTCCTCCAGGACCCTGACCTGGAACCCTGGCCCAAGGACTCCTCCCCCAGAACCCGATCCAGGCAGGCTCAGTGCCCAGTTCCCCACGGTGGGGGCTCAGCCCATACCTGTCCCCTGGCTCTGGACCACCCGGGGTGGGCAGCGGCGCTCGCAGGCCTCACGGGTCCCAAAACGGTTGGCATTCCCTCCACAGCCACCATAGACAAAAGGGTGACAGGCCTCTGTGCTGCCTGTCACAGCCCGATGGTACCAGCGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGG
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TTTGTCCACAGGGGGGAAGGCTAGACCCACGGGACCAAGTCACTGAAATAACGGACGTGCACACGCACGCTCACGTGCACACAAGCCTCTAGCACCAAGGGGAGGGACAGTGGGGTTCTGCTGAGACCCCGACTCCTCCAGGGGATGCTGAATCTCAGCTCATTATCTGGGCCTCAGTCCTGGGCAGTACCTGGTGAGGACAGGTTGGAAACGGTCGTCAGCCATCTGACCTTCCCCGGAGACGCTCAGGCAGAGGCACCGCCAAGGGGAGGGAGCGGAGGCTACAACAGGAAGTGGGGGCTCTGACCTCAGAGGGGTCCATACTTAGGTCTTTAAAGGAGGGAACATGGAAGGGGACCCTACTGGGGGCTCCACGGCTGGGGCTCTATATTCAGCTCTTTGGTCTGGGCGTCTGCCCCAGGTCCCCTACTGCGAGGGAGCGTCTCCTCCAGGACCCTGACCTGGAACCCTGGCCCAAGGACTCCTCCCCCAGAACCCGATCCAGGCAGGCTCAGTGCCCAGTTCCCCACGGTGGGGGCTCAGCCCATACCTGTCCCCTGGCTCTGGACCACCCGGGGTGGGCAGCGGCGCTCGCAGGCCTCACGGGTCCCAAAACGGTTGGCATTCCCTCCACAGCCACCATAGACAAAAGGGTGACAGGCCTCTGTGCTGCCTGTCACAGCCCGATGGTACCAGCGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCTTCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGG
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Task1_train_6756
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A variant has been detected on Chromosome 3 in COL7A1 (collagen type VII alpha 1 chain). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Nonsyndromic congenital nail disorder 8
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TTTGTCCACAGGGGGGAAGGCTAGACCCACGGGACCAAGTCACTGAAATAACGGACGTGCACACGCACGCTCACGTGCACACAAGCCTCTAGCACCAAGGGGAGGGACAGTGGGGTTCTGCTGAGACCCCGACTCCTCCAGGGGATGCTGAATCTCAGCTCATTATCTGGGCCTCAGTCCTGGGCAGTACCTGGTGAGGACAGGTTGGAAACGGTCGTCAGCCATCTGACCTTCCCCGGAGACGCTCAGGCAGAGGCACCGCCAAGGGGAGGGAGCGGAGGCTACAACAGGAAGTGGGGGCTCTGACCTCAGAGGGGTCCATACTTAGGTCTTTAAAGGAGGGAACATGGAAGGGGACCCTACTGGGGGCTCCACGGCTGGGGCTCTATATTCAGCTCTTTGGTCTGGGCGTCTGCCCCAGGTCCCCTACTGCGAGGGAGCGTCTCCTCCAGGACCCTGACCTGGAACCCTGGCCCAAGGACTCCTCCCCCAGAACCCGATCCAGGCAGGCTCAGTGCCCAGTTCCCCACGGTGGGGGCTCAGCCCATACCTGTCCCCTGGCTCTGGACCACCCGGGGTGGGCAGCGGCGCTCGCAGGCCTCACGGGTCCCAAAACGGTTGGCATTCCCTCCACAGCCACCATAGACAAAAGGGTGACAGGCCTCTGTGCTGCCTGTCACAGCCCGATGGTACCAGCGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGG
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TTTGTCCACAGGGGGGAAGGCTAGACCCACGGGACCAAGTCACTGAAATAACGGACGTGCACACGCACGCTCACGTGCACACAAGCCTCTAGCACCAAGGGGAGGGACAGTGGGGTTCTGCTGAGACCCCGACTCCTCCAGGGGATGCTGAATCTCAGCTCATTATCTGGGCCTCAGTCCTGGGCAGTACCTGGTGAGGACAGGTTGGAAACGGTCGTCAGCCATCTGACCTTCCCCGGAGACGCTCAGGCAGAGGCACCGCCAAGGGGAGGGAGCGGAGGCTACAACAGGAAGTGGGGGCTCTGACCTCAGAGGGGTCCATACTTAGGTCTTTAAAGGAGGGAACATGGAAGGGGACCCTACTGGGGGCTCCACGGCTGGGGCTCTATATTCAGCTCTTTGGTCTGGGCGTCTGCCCCAGGTCCCCTACTGCGAGGGAGCGTCTCCTCCAGGACCCTGACCTGGAACCCTGGCCCAAGGACTCCTCCCCCAGAACCCGATCCAGGCAGGCTCAGTGCCCAGTTCCCCACGGTGGGGGCTCAGCCCATACCTGTCCCCTGGCTCTGGACCACCCGGGGTGGGCAGCGGCGCTCGCAGGCCTCACGGGTCCCAAAACGGTTGGCATTCCCTCCACAGCCACCATAGACAAAAGGGTGACAGGCCTCTGTGCTGCCTGTCACAGCCCGATGGTACCAGCGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCTTCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGG
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Task1_train_6757
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A mutation in COL7A1 (collagen type VII alpha 1 chain), located on Chromosome 3, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Epidermolysis bullosa pruriginosa
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TTTGTCCACAGGGGGGAAGGCTAGACCCACGGGACCAAGTCACTGAAATAACGGACGTGCACACGCACGCTCACGTGCACACAAGCCTCTAGCACCAAGGGGAGGGACAGTGGGGTTCTGCTGAGACCCCGACTCCTCCAGGGGATGCTGAATCTCAGCTCATTATCTGGGCCTCAGTCCTGGGCAGTACCTGGTGAGGACAGGTTGGAAACGGTCGTCAGCCATCTGACCTTCCCCGGAGACGCTCAGGCAGAGGCACCGCCAAGGGGAGGGAGCGGAGGCTACAACAGGAAGTGGGGGCTCTGACCTCAGAGGGGTCCATACTTAGGTCTTTAAAGGAGGGAACATGGAAGGGGACCCTACTGGGGGCTCCACGGCTGGGGCTCTATATTCAGCTCTTTGGTCTGGGCGTCTGCCCCAGGTCCCCTACTGCGAGGGAGCGTCTCCTCCAGGACCCTGACCTGGAACCCTGGCCCAAGGACTCCTCCCCCAGAACCCGATCCAGGCAGGCTCAGTGCCCAGTTCCCCACGGTGGGGGCTCAGCCCATACCTGTCCCCTGGCTCTGGACCACCCGGGGTGGGCAGCGGCGCTCGCAGGCCTCACGGGTCCCAAAACGGTTGGCATTCCCTCCACAGCCACCATAGACAAAAGGGTGACAGGCCTCTGTGCTGCCTGTCACAGCCCGATGGTACCAGCGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGG
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TTTGTCCACAGGGGGGAAGGCTAGACCCACGGGACCAAGTCACTGAAATAACGGACGTGCACACGCACGCTCACGTGCACACAAGCCTCTAGCACCAAGGGGAGGGACAGTGGGGTTCTGCTGAGACCCCGACTCCTCCAGGGGATGCTGAATCTCAGCTCATTATCTGGGCCTCAGTCCTGGGCAGTACCTGGTGAGGACAGGTTGGAAACGGTCGTCAGCCATCTGACCTTCCCCGGAGACGCTCAGGCAGAGGCACCGCCAAGGGGAGGGAGCGGAGGCTACAACAGGAAGTGGGGGCTCTGACCTCAGAGGGGTCCATACTTAGGTCTTTAAAGGAGGGAACATGGAAGGGGACCCTACTGGGGGCTCCACGGCTGGGGCTCTATATTCAGCTCTTTGGTCTGGGCGTCTGCCCCAGGTCCCCTACTGCGAGGGAGCGTCTCCTCCAGGACCCTGACCTGGAACCCTGGCCCAAGGACTCCTCCCCCAGAACCCGATCCAGGCAGGCTCAGTGCCCAGTTCCCCACGGTGGGGGCTCAGCCCATACCTGTCCCCTGGCTCTGGACCACCCGGGGTGGGCAGCGGCGCTCGCAGGCCTCACGGGTCCCAAAACGGTTGGCATTCCCTCCACAGCCACCATAGACAAAAGGGTGACAGGCCTCTGTGCTGCCTGTCACAGCCCGATGGTACCAGCGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCTTCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGG
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Task1_train_6758
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A variant affecting Chromosome 3, within the gene COL7A1 (collagen type VII alpha 1 chain), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Recessive dystrophic epidermolysis bullosa
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TTTGTCCACAGGGGGGAAGGCTAGACCCACGGGACCAAGTCACTGAAATAACGGACGTGCACACGCACGCTCACGTGCACACAAGCCTCTAGCACCAAGGGGAGGGACAGTGGGGTTCTGCTGAGACCCCGACTCCTCCAGGGGATGCTGAATCTCAGCTCATTATCTGGGCCTCAGTCCTGGGCAGTACCTGGTGAGGACAGGTTGGAAACGGTCGTCAGCCATCTGACCTTCCCCGGAGACGCTCAGGCAGAGGCACCGCCAAGGGGAGGGAGCGGAGGCTACAACAGGAAGTGGGGGCTCTGACCTCAGAGGGGTCCATACTTAGGTCTTTAAAGGAGGGAACATGGAAGGGGACCCTACTGGGGGCTCCACGGCTGGGGCTCTATATTCAGCTCTTTGGTCTGGGCGTCTGCCCCAGGTCCCCTACTGCGAGGGAGCGTCTCCTCCAGGACCCTGACCTGGAACCCTGGCCCAAGGACTCCTCCCCCAGAACCCGATCCAGGCAGGCTCAGTGCCCAGTTCCCCACGGTGGGGGCTCAGCCCATACCTGTCCCCTGGCTCTGGACCACCCGGGGTGGGCAGCGGCGCTCGCAGGCCTCACGGGTCCCAAAACGGTTGGCATTCCCTCCACAGCCACCATAGACAAAAGGGTGACAGGCCTCTGTGCTGCCTGTCACAGCCCGATGGTACCAGCGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGG
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TTTGTCCACAGGGGGGAAGGCTAGACCCACGGGACCAAGTCACTGAAATAACGGACGTGCACACGCACGCTCACGTGCACACAAGCCTCTAGCACCAAGGGGAGGGACAGTGGGGTTCTGCTGAGACCCCGACTCCTCCAGGGGATGCTGAATCTCAGCTCATTATCTGGGCCTCAGTCCTGGGCAGTACCTGGTGAGGACAGGTTGGAAACGGTCGTCAGCCATCTGACCTTCCCCGGAGACGCTCAGGCAGAGGCACCGCCAAGGGGAGGGAGCGGAGGCTACAACAGGAAGTGGGGGCTCTGACCTCAGAGGGGTCCATACTTAGGTCTTTAAAGGAGGGAACATGGAAGGGGACCCTACTGGGGGCTCCACGGCTGGGGCTCTATATTCAGCTCTTTGGTCTGGGCGTCTGCCCCAGGTCCCCTACTGCGAGGGAGCGTCTCCTCCAGGACCCTGACCTGGAACCCTGGCCCAAGGACTCCTCCCCCAGAACCCGATCCAGGCAGGCTCAGTGCCCAGTTCCCCACGGTGGGGGCTCAGCCCATACCTGTCCCCTGGCTCTGGACCACCCGGGGTGGGCAGCGGCGCTCGCAGGCCTCACGGGTCCCAAAACGGTTGGCATTCCCTCCACAGCCACCATAGACAAAAGGGTGACAGGCCTCTGTGCTGCCTGTCACAGCCCGATGGTACCAGCGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCTTCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGG
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Task1_train_6759
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The gene COL7A1 (collagen type VII alpha 1 chain) is located on Chromosome 3, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Generalized dominant dystrophic epidermolysis bullosa
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TTTGTCCACAGGGGGGAAGGCTAGACCCACGGGACCAAGTCACTGAAATAACGGACGTGCACACGCACGCTCACGTGCACACAAGCCTCTAGCACCAAGGGGAGGGACAGTGGGGTTCTGCTGAGACCCCGACTCCTCCAGGGGATGCTGAATCTCAGCTCATTATCTGGGCCTCAGTCCTGGGCAGTACCTGGTGAGGACAGGTTGGAAACGGTCGTCAGCCATCTGACCTTCCCCGGAGACGCTCAGGCAGAGGCACCGCCAAGGGGAGGGAGCGGAGGCTACAACAGGAAGTGGGGGCTCTGACCTCAGAGGGGTCCATACTTAGGTCTTTAAAGGAGGGAACATGGAAGGGGACCCTACTGGGGGCTCCACGGCTGGGGCTCTATATTCAGCTCTTTGGTCTGGGCGTCTGCCCCAGGTCCCCTACTGCGAGGGAGCGTCTCCTCCAGGACCCTGACCTGGAACCCTGGCCCAAGGACTCCTCCCCCAGAACCCGATCCAGGCAGGCTCAGTGCCCAGTTCCCCACGGTGGGGGCTCAGCCCATACCTGTCCCCTGGCTCTGGACCACCCGGGGTGGGCAGCGGCGCTCGCAGGCCTCACGGGTCCCAAAACGGTTGGCATTCCCTCCACAGCCACCATAGACAAAAGGGTGACAGGCCTCTGTGCTGCCTGTCACAGCCCGATGGTACCAGCGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGG
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TTTGTCCACAGGGGGGAAGGCTAGACCCACGGGACCAAGTCACTGAAATAACGGACGTGCACACGCACGCTCACGTGCACACAAGCCTCTAGCACCAAGGGGAGGGACAGTGGGGTTCTGCTGAGACCCCGACTCCTCCAGGGGATGCTGAATCTCAGCTCATTATCTGGGCCTCAGTCCTGGGCAGTACCTGGTGAGGACAGGTTGGAAACGGTCGTCAGCCATCTGACCTTCCCCGGAGACGCTCAGGCAGAGGCACCGCCAAGGGGAGGGAGCGGAGGCTACAACAGGAAGTGGGGGCTCTGACCTCAGAGGGGTCCATACTTAGGTCTTTAAAGGAGGGAACATGGAAGGGGACCCTACTGGGGGCTCCACGGCTGGGGCTCTATATTCAGCTCTTTGGTCTGGGCGTCTGCCCCAGGTCCCCTACTGCGAGGGAGCGTCTCCTCCAGGACCCTGACCTGGAACCCTGGCCCAAGGACTCCTCCCCCAGAACCCGATCCAGGCAGGCTCAGTGCCCAGTTCCCCACGGTGGGGGCTCAGCCCATACCTGTCCCCTGGCTCTGGACCACCCGGGGTGGGCAGCGGCGCTCGCAGGCCTCACGGGTCCCAAAACGGTTGGCATTCCCTCCACAGCCACCATAGACAAAAGGGTGACAGGCCTCTGTGCTGCCTGTCACAGCCCGATGGTACCAGCGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCTTCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGG
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Task1_train_6760
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A variant on Chromosome 3 in gene COL7A1 (collagen type VII alpha 1 chain) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Transient bullous dermolysis of the newborn
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TTTGTCCACAGGGGGGAAGGCTAGACCCACGGGACCAAGTCACTGAAATAACGGACGTGCACACGCACGCTCACGTGCACACAAGCCTCTAGCACCAAGGGGAGGGACAGTGGGGTTCTGCTGAGACCCCGACTCCTCCAGGGGATGCTGAATCTCAGCTCATTATCTGGGCCTCAGTCCTGGGCAGTACCTGGTGAGGACAGGTTGGAAACGGTCGTCAGCCATCTGACCTTCCCCGGAGACGCTCAGGCAGAGGCACCGCCAAGGGGAGGGAGCGGAGGCTACAACAGGAAGTGGGGGCTCTGACCTCAGAGGGGTCCATACTTAGGTCTTTAAAGGAGGGAACATGGAAGGGGACCCTACTGGGGGCTCCACGGCTGGGGCTCTATATTCAGCTCTTTGGTCTGGGCGTCTGCCCCAGGTCCCCTACTGCGAGGGAGCGTCTCCTCCAGGACCCTGACCTGGAACCCTGGCCCAAGGACTCCTCCCCCAGAACCCGATCCAGGCAGGCTCAGTGCCCAGTTCCCCACGGTGGGGGCTCAGCCCATACCTGTCCCCTGGCTCTGGACCACCCGGGGTGGGCAGCGGCGCTCGCAGGCCTCACGGGTCCCAAAACGGTTGGCATTCCCTCCACAGCCACCATAGACAAAAGGGTGACAGGCCTCTGTGCTGCCTGTCACAGCCCGATGGTACCAGCGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGG
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TTTGTCCACAGGGGGGAAGGCTAGACCCACGGGACCAAGTCACTGAAATAACGGACGTGCACACGCACGCTCACGTGCACACAAGCCTCTAGCACCAAGGGGAGGGACAGTGGGGTTCTGCTGAGACCCCGACTCCTCCAGGGGATGCTGAATCTCAGCTCATTATCTGGGCCTCAGTCCTGGGCAGTACCTGGTGAGGACAGGTTGGAAACGGTCGTCAGCCATCTGACCTTCCCCGGAGACGCTCAGGCAGAGGCACCGCCAAGGGGAGGGAGCGGAGGCTACAACAGGAAGTGGGGGCTCTGACCTCAGAGGGGTCCATACTTAGGTCTTTAAAGGAGGGAACATGGAAGGGGACCCTACTGGGGGCTCCACGGCTGGGGCTCTATATTCAGCTCTTTGGTCTGGGCGTCTGCCCCAGGTCCCCTACTGCGAGGGAGCGTCTCCTCCAGGACCCTGACCTGGAACCCTGGCCCAAGGACTCCTCCCCCAGAACCCGATCCAGGCAGGCTCAGTGCCCAGTTCCCCACGGTGGGGGCTCAGCCCATACCTGTCCCCTGGCTCTGGACCACCCGGGGTGGGCAGCGGCGCTCGCAGGCCTCACGGGTCCCAAAACGGTTGGCATTCCCTCCACAGCCACCATAGACAAAAGGGTGACAGGCCTCTGTGCTGCCTGTCACAGCCCGATGGTACCAGCGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCTTCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGG
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Task1_train_6761
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This genomic variant is located on Chromosome 3, within the COL7A1 (collagen type VII alpha 1 chain) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Recessive dystrophic epidermolysis bullosa
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AGGGGAGGGAGCGGAGGCTACAACAGGAAGTGGGGGCTCTGACCTCAGAGGGGTCCATACTTAGGTCTTTAAAGGAGGGAACATGGAAGGGGACCCTACTGGGGGCTCCACGGCTGGGGCTCTATATTCAGCTCTTTGGTCTGGGCGTCTGCCCCAGGTCCCCTACTGCGAGGGAGCGTCTCCTCCAGGACCCTGACCTGGAACCCTGGCCCAAGGACTCCTCCCCCAGAACCCGATCCAGGCAGGCTCAGTGCCCAGTTCCCCACGGTGGGGGCTCAGCCCATACCTGTCCCCTGGCTCTGGACCACCCGGGGTGGGCAGCGGCGCTCGCAGGCCTCACGGGTCCCAAAACGGTTGGCATTCCCTCCACAGCCACCATAGACAAAAGGGTGACAGGCCTCTGTGCTGCCTGTCACAGCCCGATGGTACCAGCGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCAT
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AGGGGAGGGAGCGGAGGCTACAACAGGAAGTGGGGGCTCTGACCTCAGAGGGGTCCATACTTAGGTCTTTAAAGGAGGGAACATGGAAGGGGACCCTACTGGGGGCTCCACGGCTGGGGCTCTATATTCAGCTCTTTGGTCTGGGCGTCTGCCCCAGGTCCCCTACTGCGAGGGAGCGTCTCCTCCAGGACCCTGACCTGGAACCCTGGCCCAAGGACTCCTCCCCCAGAACCCGATCCAGGCAGGCTCAGTGCCCAGTTCCCCACGGTGGGGGCTCAGCCCATACCTGTCCCCTGGCTCTGGACCACCCGGGGTGGGCAGCGGCGCTCGCAGGCCTCACGGGTCCCAAAACGGTTGGCATTCCCTCCACAGCCACCATAGACAAAAGGGTGACAGGCCTCTGTGCTGCCTGTCACAGCCCGATGGTACCAGCGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACTGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCAT
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Task1_train_6762
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A sequence alteration has been identified in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is it disease-inducing or harmless?
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Pathogenic; Recessive dystrophic epidermolysis bullosa
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AGCGTCTCCTCCAGGACCCTGACCTGGAACCCTGGCCCAAGGACTCCTCCCCCAGAACCCGATCCAGGCAGGCTCAGTGCCCAGTTCCCCACGGTGGGGGCTCAGCCCATACCTGTCCCCTGGCTCTGGACCACCCGGGGTGGGCAGCGGCGCTCGCAGGCCTCACGGGTCCCAAAACGGTTGGCATTCCCTCCACAGCCACCATAGACAAAAGGGTGACAGGCCTCTGTGCTGCCTGTCACAGCCCGATGGTACCAGCGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGG
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AGCGTCTCCTCCAGGACCCTGACCTGGAACCCTGGCCCAAGGACTCCTCCCCCAGAACCCGATCCAGGCAGGCTCAGTGCCCAGTTCCCCACGGTGGGGGCTCAGCCCATACCTGTCCCCTGGCTCTGGACCACCCGGGGTGGGCAGCGGCGCTCGCAGGCCTCACGGGTCCCAAAACGGTTGGCATTCCCTCCACAGCCACCATAGACAAAAGGGTGACAGGCCTCTGTGCTGCCTGTCACAGCCCGATGGTACCAGCGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCTGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGG
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Task1_train_6763
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A variant was discovered in gene COL7A1 (collagen type VII alpha 1 chain), Chromosome 3. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Epidermolysis bullosa dystrophica
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AGACAAAAGGGTGACAGGCCTCTGTGCTGCCTGTCACAGCCCGATGGTACCAGCGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAG
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AGACAAAAGGGTGACAGGCCTCTGTGCTGCCTGTCACAGCCCGATGGTACCAGCGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCGTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAG
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Task1_train_6764
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With a mutation on Chromosome 3 in gene COL7A1 (collagen type VII alpha 1 chain), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Epidermolysis bullosa dystrophica
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TGGTACCAGCGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTG
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TGGTACCAGCGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGAACAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTG
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Task1_train_6765
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Gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; COL7A1-related disorder
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TGGTACCAGCGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTG
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TGGTACCAGCGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGAACAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTG
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Task1_train_6766
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A genetic alteration is present in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; not provided
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TGGTACCAGCGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTG
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TGGTACCAGCGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGATCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTG
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Task1_train_6767
|
A mutation in COL7A1 (collagen type VII alpha 1 chain), located on Chromosome 3, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; not specified
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CGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACA
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CGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGGCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACA
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Task1_train_6768
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This variant affects gene COL7A1 (collagen type VII alpha 1 chain) located on Chromosome 3. Evaluate its biological effect and specify any disease association.
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Pathogenic; Epidermolysis bullosa pruriginosa
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CGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACA
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CGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGTCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACA
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Task1_train_6769
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The gene COL7A1 (collagen type VII alpha 1 chain) is located on Chromosome 3, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Recessive dystrophic epidermolysis bullosa
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CAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCAC
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CAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGTCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCAC
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Task1_train_6770
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This variant lies on Chromosome 3 and affects the gene COL7A1 (collagen type VII alpha 1 chain). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; not provided
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AGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCC
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AGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCTCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCC
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Task1_train_6771
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Here’s a variant in COL7A1 (collagen type VII alpha 1 chain) located on Chromosome 3. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; not provided
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GCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCT
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GCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCACTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCT
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Task1_train_6772
|
This alteration in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; COL7A1-related disorder
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GAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAG
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GAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCTGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAG
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Task1_train_6773
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This gene mutation involves COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Recessive dystrophic epidermolysis bullosa
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ACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCA
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ACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACTGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCA
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Task1_train_6774
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The gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; not provided
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CCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGG
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CCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCTCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGG
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Task1_train_6775
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A variant has been detected on Chromosome 3 in COL7A1 (collagen type VII alpha 1 chain). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Pretibial dystrophic epidermolysis bullosa
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ATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGT
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ATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCTGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGT
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Task1_train_6776
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With a mutation on Chromosome 3 in gene COL7A1 (collagen type VII alpha 1 chain), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Dominant dystrophic epidermolysis bullosa with absence of skin
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ATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGT
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ATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCTGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGT
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Task1_train_6777
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Located on Chromosome 3, this mutation impacts COL7A1 (collagen type VII alpha 1 chain). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Nonsyndromic congenital nail disorder 8
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ATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGT
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ATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCTGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGT
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Task1_train_6778
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This gene mutation involves COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Epidermolysis bullosa pruriginosa
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ATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGT
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ATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCTGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGT
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Task1_train_6779
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A genomic change on Chromosome 3 affects COL7A1 (collagen type VII alpha 1 chain). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Recessive dystrophic epidermolysis bullosa
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ATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGT
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ATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCTGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGT
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Task1_train_6780
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A sequence alteration has been identified in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is it disease-inducing or harmless?
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Pathogenic; Generalized dominant dystrophic epidermolysis bullosa
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ATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGT
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ATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCTGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGT
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Task1_train_6781
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The gene COL7A1 (collagen type VII alpha 1 chain), on Chromosome 3, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Transient bullous dermolysis of the newborn
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ATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGT
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ATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCTGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGT
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Task1_train_6782
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A variant has been detected on Chromosome 3 in COL7A1 (collagen type VII alpha 1 chain). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Recessive dystrophic epidermolysis bullosa
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ATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGT
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ATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCTGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGT
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Task1_train_6783
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Here is a variant affecting COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Epidermolysis bullosa dystrophica
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TGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAG
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TGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCGCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAG
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Task1_train_6784
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A change on Chromosome 3 affects gene COL7A1 (collagen type VII alpha 1 chain). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; not specified
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AAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTG
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AAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCATTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTG
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Task1_train_6785
|
A mutation in COL7A1 (collagen type VII alpha 1 chain), located on Chromosome 3, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
|
Pathogenic; not provided
|
GACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTC
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GACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGTCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTC
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Task1_train_6786
|
A variant was discovered on Chromosome 3, affecting COL7A1 (collagen type VII alpha 1 chain). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Pretibial dystrophic epidermolysis bullosa
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ACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCG
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ACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCACCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCG
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Task1_train_6787
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A genetic alteration is present in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Pretibial dystrophic epidermolysis bullosa
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ATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGG
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ATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCTGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGG
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Task1_train_6788
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A variant was discovered in gene COL7A1 (collagen type VII alpha 1 chain), Chromosome 3. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Transient bullous dermolysis of the newborn
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ATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGG
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ATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCTGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGG
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Task1_train_6789
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A mutation found in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Nonsyndromic congenital nail disorder 8
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ATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGG
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ATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCTGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGG
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Task1_train_6790
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Here’s a variant in COL7A1 (collagen type VII alpha 1 chain) located on Chromosome 3. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Generalized dominant dystrophic epidermolysis bullosa
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ATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGG
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ATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCTGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGG
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Task1_train_6791
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Gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Recessive dystrophic epidermolysis bullosa
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ATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGG
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ATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCTGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGG
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Task1_train_6792
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A sequence alteration has been identified in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is it disease-inducing or harmless?
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Pathogenic; Dominant dystrophic epidermolysis bullosa with absence of skin
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ATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGG
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ATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCTGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGG
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Task1_train_6793
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Assess the clinical impact of this variant on gene COL7A1 (collagen type VII alpha 1 chain), found on Chromosome 3. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Epidermolysis bullosa pruriginosa
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ATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGG
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ATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCTGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGG
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Task1_train_6794
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Given a variant located on Chromosome 3 and affecting COL7A1 (collagen type VII alpha 1 chain), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Epidermolysis bullosa dystrophica
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CAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCC
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CAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGATCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCC
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Task1_train_6795
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The variant affects gene COL7A1 (collagen type VII alpha 1 chain), which is on Chromosome 3. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Recessive dystrophic epidermolysis bullosa
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AAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCA
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AAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACACAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCA
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Task1_train_6796
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Gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Pretibial dystrophic epidermolysis bullosa
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AAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCA
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AAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACACAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCA
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Task1_train_6797
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With a mutation on Chromosome 3 in gene COL7A1 (collagen type VII alpha 1 chain), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Dominant dystrophic epidermolysis bullosa with absence of skin
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AAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCA
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AAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACACAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCA
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Task1_train_6798
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A mutation on Chromosome 3 affecting COL7A1 (collagen type VII alpha 1 chain) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Transient bullous dermolysis of the newborn
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AAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCA
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AAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACACAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCA
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Task1_train_6799
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This genomic variant is located on Chromosome 3, within the COL7A1 (collagen type VII alpha 1 chain) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Nonsyndromic congenital nail disorder 8
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AAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCA
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AAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACACAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCA
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Subsets and Splits
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