Datasets:
wanglab
/
variant_effect_coding

Dataset card Data Studio Files
xet
 Community
ID
stringlengths
13
17
question
stringlengths
88
1.13k
answer
stringlengths
6
156
reference_sequence
stringlengths
4.1k
4.1k
variant_sequence
stringlengths
4.1k
4.1k
Task1_train_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
CTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAGAAAGAAAGAAAACAGTTGGAGACATGCAGTATACATAGGGACAGCTGTGAGAAACCCCCAGCACTGTGACCATTACATTTAGAAAAACTAGTGCATAATGGATGAGATTAGGTCACACGACAACCCTGTAAATGGTAGGCAGCCTCTCCAGCCAAACATTAGAGACAGGGTTTAGGGAAGCAGTCGATGCAATTACCTCATCAAAGCAAAATATATCAAGGTTTATAACGGTCCGTGGGAGAAAAAGAAGCTGGAGAAGCAGAACTGGCAGTGTCTCTCCAGCATGGATGACAGAGGGAAAGAGCTAAATTCAGGTGCACATAGAATTCAGCCTCACAGTTAGTGAAGTGTTCTCTGTAACAGGCAAGGCTGCCCATGTATAGCTGTGCAGTTTGTGCGCTACACAAAAGAACCAAGCCAAGGCTGTGATTTCAGTAGGGCCTGAAATGCAGCCGTTTCTCAAGCCATACATTTCAGGGCAACATCTGCCAAACGAGGGTGACTTTTTCTAACTTCTCAACTTTTCTGCCCAGAAAGATACATTTTTTCCTAATTTGCATAACAGTGTTTTAAGGTCTAGACACAGCCTGGGGCAGGGTAAAGGGGCCAGTGGTTCCCTGAGTCTCACCACAGCGTGGATAAACATCTAGGACTTCAGTCTCCCCTTCTCTGCTGTCATGGGGTCAGGCAGTATTGTGAACATCTTTTCCCTTCCCACGTAGTCTTGCCTACTGGGTGAGAATACTTTGATCAGCAAGGGCAGGTTTCTGTCTCCTTCATGGATGTAACTCTCATGAAGTATGGAGTTGGCTTTTAGGTCTGTACATCGGTCCCCTGTTAGCTTGGTTGCTGTTGGAATCAGAGATTATTTGGCTGGAAGGAAAAGAAATCCACCCAAACCCAGTTGCAGAAAATAGAGCTAGGCCCCACTGCTCATAGGAAGTCACCAGCCACTCCTTTTTTCTTCTCTCTTTCTCAGCTCTCTCGTTCTTAGTTCTTCTTCCTGCTTCTCTCTGTTCTTCTGCCCTGTTCTCCTTCATCTGCCAGACTTGGATTCTCCTCTCCCCAATTTCAATTTACCAAGTGACCTTGGGTAGCTGCAGTGGCAAGTCTTGCCCCATCTCCTTAGGACCTGATGGTCCCAGTGCTCAGCAACATGGAAACTGAGTTTCTGTATCTCTTAGCTCCAATTTGTGAGATAGAGGCTTAGCCTTGCCAGGTGCTCTTACTAGTCCTCTCCAGTAGGGCTTGGCAACAAGGTCACCTCATCCAAATGCGGCCATTTAAGACCCCTTCCATCAGCACCATCTAGACCAGTGGTATGTGAGTAGGGGAGGAGACAGTTCCAAAGAATAGGGTGTGGGTGGCTGGCACCACAAAGGGACCAACACATTTACCATGAGCCCGGTAAGTGAATTCCATGTGCCCTGAGAGTATGAGATCATGTTTTGGTGACTGCAACATGGATGGGACAGGTCAGGCTGCCAACTTCCATAAGAGACCCTTAATTCATCAAGAAAATGGCAACGTGTGCGAGTTTTTCAAAATTCTTTTTTACTTTCCTTTTTTGTGTATAAATAATTCACTTGTAAAGGGGGAAATTGTTTTGTTTTATAGAAAAAGCTGGCACAGGCCATTATAACTGTCCTGTTTATTCGCGAAGGTTTGTGGGAGGAAGGTGGGCCTCATTCATTTAAAAATAAAAATATTTTTATAACAATACAGAGGGAGAGAAAGCGGCTTGTTAAGTGAATTAGTGTGATTCTTCAAATGGACACTTTCCATCGCTCACCCAGTTTTTACTTATTGATGCTATTTCTATAGAAGCAATTCACAATGACACATACCATACCTATGGATTATTTTGGCATCTAGGTTCCGTTCCTGTTCATGCAAAAACGAAAGAGAAGTTAGAGGTGACGTGGAAGAAGATGAGTAAGTCCAAACACAACGGGGTGGACCCAGAGGAAGTTGTGGAGCAGTATGGGATCGACACGATTCGGCTCTACATCCTTTTTGCTGCCCCTCCTGAGAAGGATATCTTGTGGGATGTGAAAAGTAAGTCACCTTCCTCTTCCTGACTTGCTTCCTTTGTGATCTGCCCTGGACTTTGAAGGAGTTTGAGGAAGGAAATGTCTTTGCTGAAGACAGTGGTAGAGAATTCTAGGAATCAGTTCCATAGAGCAAGTAGCAGCTTGACCAGCATCCTGCACCACTCTTAGACGGGTGTTGACAAACATAAGCGAGCCTCAGAATCATTTGGGAAACATGTTGCAGATGCAGATTCCAGTGCTCCGCCCATGCCTGCTGACACAGCCTCCAGAATGGGGCTCAGGAGGTGGCCTTTGAACAAGCTCAGCGGTGATTCCAGTGCACACTCTACGAGGACCATGCTTTGAGAGTGGTTTCCTTGGAGACAGACTGGCTTCTGAGCTACTCCTAGGCCTGCTATAGTCCAAAGAGGCCAGTTCCCTCTTTCTTGATGTACCCTGCAAGGTTTTTTCTAGAACAGTGTCATTCTCCCTCACCAATCCAGAAAGCCCCGGGAGGGGTCTGGGCCTGTTGTTACCTATGGCCTCTTAGTCACCCACAGCACCCTTCATCTCCCCACTTAGGGGAGATTTGTCTCTCCAGAGTTGTTTAGTACTAAAATGACATGAAGTAAAATAATCTTGAGTATCTGGCTATTCTAGAATAAACCCGTCCAACAGTCATTCATTTTTACTTCATGTGATCAGCCCTAAGTGTTGTTGTGGGAAGAGGAAGTCAGATGCCTGGAAACTTGAGCCTTGTGTGAAGTATCCATGTCATTTGAGAAATCACTGTTTATTTTGATTTCCAACTAGCTGTGGCTAGTGGGAAGTGTGGTCTGGAACAGTGGTCACAGATGCCAGTCCTAGAACTAGCTGCCTCAGAATCACTGGGGGGCTTGCAAAGCACAGACAGGTGGAGGTTCTGGCTCCCACCCCTAACCCAGGGGACAGGCTCCAGGAATCTTTCTAAGAAGCCTCCCAGAAGGTTCTGCTGTGCATTCAGGCTTGAGAATGCCTAGCCTAGTGGCCAGACAGTACAAGGACCTGGACTGACCCTAATTTGGCTACTGGTATAACCCAGGGCCACCAGGTAAAGCCATTCAGCTTTACCAGAAGATCAGACCAGCAGCTGGATTGGATGAGCTTGTGTAAAATATGGAAAACACACATACCTGCAAGGACAGGGATTGTGCCAATGCACTTCACACTCTACAGCAGTGTGGCTGCAAGCACAGTCATGCTATCCACAAGGTAAGAGCTTGCACCAGCAGGAGTCAGCACTGTCTCCAAAGCACCATGTTAACTCCATGGCATTTTTGTCCCAGCAAGCTTGCTTAATCAAGGCGGCGGGGCACCAGGGCTCATCTTGACCAAGCTTCTGAGCTCATGACCGTTGGTGGGTGGCACTTTGAGTGGCCCTGCCATCCAGTGCTCTGAATCTGGGCACTAAAATGAGATAGAATTGGTCCTGGTCTGAATTCTCAGACACTGAAGGCCAGGGAGGATCCTTCAGCCTGCCCTCAGAGGAATCCATCAGGGTGCAGTGAAGTGTCACATCAATTCACAGGTGTTTTTCTCTGCTTAGTTATACCAAGTCAATCACCCTTATGTTGCACGCTCTCTCTTTCTCATTTACTGATGCTGAATTCAGCTGATGCTCTCCCTGGGGTGCTGAGATGGCAACAACGACTGTGGACCTTGACAACTCGGTTTATTGAGGCCAGGGCTTCTGGGAAGTCTCCCCAGCCTCAGCTGCTGAGTAACAAGGAGAAAGCTGAGGCCAGGAAGCTCTGGGAGTACAAGAACTCCGTCATCTCTCAGGTCAGAAACTCTCCAATTCCAGGGGTTAACTCTGTAACCAAGCACTCTTTGGGAACCTTTGCCTGTGGTCTTTGCTGCCCTCCCTGCCTTGGGTTGGGCCACTGTGGGTCTTCCTTCCT
Task1_train_6703
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.
Pathogenic; Perrault syndrome 4
ACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAGAAAGAAAGAAAACAGTTGGAGACATGCAGTATACATAGGGACAGCTGTGAGAAACCCCCAGCACTGTGACCATTACATTTAGAAAAACTAGTGCATAATGGATGAGATTAGGTCACACGACAACCCTGTAAATGGTAGGCAGCCTCTCCAGCCAAACATTAGAGACAGGGTTTAGGGAAGCAGTCGATGCAATTACCTCATCAAAGCAAAATATATCAAGGTTTATAACGGTCCGTGGGAGAAAAAGAAGCTGGAGAAGCAGAACTGGCAGTGTCTCTCCAGCATGGATGACAGAGGGAAAGAGCTAAATTCAGGTGCACATAGAATTCAGCCTCACAGTTAGTGAAGTGTTCTCTGTAACAGGCAAGGCTGCCCATGTATAGCTGTGCAGTTTGTGCGCTACACAAAAGAACCAAGCCAAGGCTGTGATTTCAGTAGGGCCTGAAATGCAGCCGTTTCTCAAGCCATACATTTCAGGGCAACATCTGCCAAACGAGGGTGACTTTTTCTAACTTCTCAACTTTTCTGCCCAGAAAGATACATTTTTTCCTAATTTGCATAACAGTGTTTTAAGGTCTAGACACAGCCTGGGGCAGGGTAAAGGGGCCAGTGGTTCCCTGAGTCTCACCACAGCGTGGATAAACATCTAGGACTTCAGTCTCCCCTTCTCTGCTGTCATGGGGTCAGGCAGTATTGTGAACATCTTTTCCCTTCCCACGTAGTCTTGCCTACTGGGTGAGAATACTTTGATCAGCAAGGGCAGGTTTCTGTCTCCTTCATGGATGTAACTCTCATGAAGTATGGAGTTGGCTTTTAGGTCTGTACATCGGTCCCCTGTTAGCTTGGTTGCTGTTGGAATCAGAGATTATTTGGCTGGAAGGAAAAGAAATCCACCCAAACCCAGTTGCAGAAAATAGAGCTAGGCCCCACTGCTCATAGGAAGTCACCAGCCACTCCTTTTTTCTTCTCTCTTTCTCAGCTCTCTCGTTCTTAGTTCTTCTTCCTGCTTCTCTCTGTTCTTCTGCCCTGTTCTCCTTCATCTGCCAGACTTGGATTCTCCTCTCCCCAATTTCAATTTACCAAGTGACCTTGGGTAGCTGCAGTGGCAAGTCTTGCCCCATCTCCTTAGGACCTGATGGTCCCAGTGCTCAGCAACATGGAAACTGAGTTTCTGTATCTCTTAGCTCCAATTTGTGAGATAGAGGCTTAGCCTTGCCAGGTGCTCTTACTAGTCCTCTCCAGTAGGGCTTGGCAACAAGGTCACCTCATCCAAATGCGGCCATTTAAGACCCCTTCCATCAGCACCATCTAGACCAGTGGTATGTGAGTAGGGGAGGAGACAGTTCCAAAGAATAGGGTGTGGGTGGCTGGCACCACAAAGGGACCAACACATTTACCATGAGCCCGGTAAGTGAATTCCATGTGCCCTGAGAGTATGAGATCATGTTTTGGTGACTGCAACATGGATGGGACAGGTCAGGCTGCCAACTTCCATAAGAGACCCTTAATTCATCAAGAAAATGGCAACGTGTGCGAGTTTTTCAAAATTCTTTTTTACTTTCCTTTTTTGTGTATAAATAATTCACTTGTAAAGGGGGAAATTGTTTTGTTTTATAGAAAAAGCTGGCACAGGCCATTATAACTGTCCTGTTTATTCGCGAAGGTTTGTGGGAGGAAGGTGGGCCTCATTCATTTAAAAATAAAAATATTTTTATAACAATACAGAGGGAGAGAAAGCGGCTTGTTAAGTGAATTAGTGTGATTCTTCAAATGGACACTTTCCATCGCTCACCCAGTTTTTACTTATTGATGCTATTTCTATAGAAGCAATTCACAATGACACATACCATACCTATGGATTATTTTGGCATCTAGGTTCCGTTCCTGTTCATGCAAAAACGAAAGAGAAGTTAGAGGTGACGTGGGAGAAGATGAGTAAGTCCAAACACAACGGGGTGGACCCAGAGGAAGTTGTGGAGCAGTATGGGATCGACACGATTCGGCTCTACATCCTTTTTGCTGCCCCTCCTGAGAAGGATATCTTGTGGGATGTGAAAAGTAAGTCACCTTCCTCTTCCTGACTTGCTTCCTTTGTGATCTGCCCTGGACTTTGAAGGAGTTTGAGGAAGGAAATGTCTTTGCTGAAGACAGTGGTAGAGAATTCTAGGAATCAGTTCCATAGAGCAAGTAGCAGCTTGACCAGCATCCTGCACCACTCTTAGACGGGTGTTGACAAACATAAGCGAGCCTCAGAATCATTTGGGAAACATGTTGCAGATGCAGATTCCAGTGCTCCGCCCATGCCTGCTGACACAGCCTCCAGAATGGGGCTCAGGAGGTGGCCTTTGAACAAGCTCAGCGGTGATTCCAGTGCACACTCTACGAGGACCATGCTTTGAGAGTGGTTTCCTTGGAGACAGACTGGCTTCTGAGCTACTCCTAGGCCTGCTATAGTCCAAAGAGGCCAGTTCCCTCTTTCTTGATGTACCCTGCAAGGTTTTTTCTAGAACAGTGTCATTCTCCCTCACCAATCCAGAAAGCCCCGGGAGGGGTCTGGGCCTGTTGTTACCTATGGCCTCTTAGTCACCCACAGCACCCTTCATCTCCCCACTTAGGGGAGATTTGTCTCTCCAGAGTTGTTTAGTACTAAAATGACATGAAGTAAAATAATCTTGAGTATCTGGCTATTCTAGAATAAACCCGTCCAACAGTCATTCATTTTTACTTCATGTGATCAGCCCTAAGTGTTGTTGTGGGAAGAGGAAGTCAGATGCCTGGAAACTTGAGCCTTGTGTGAAGTATCCATGTCATTTGAGAAATCACTGTTTATTTTGATTTCCAACTAGCTGTGGCTAGTGGGAAGTGTGGTCTGGAACAGTGGTCACAGATGCCAGTCCTAGAACTAGCTGCCTCAGAATCACTGGGGGGCTTGCAAAGCACAGACAGGTGGAGGTTCTGGCTCCCACCCCTAACCCAGGGGACAGGCTCCAGGAATCTTTCTAAGAAGCCTCCCAGAAGGTTCTGCTGTGCATTCAGGCTTGAGAATGCCTAGCCTAGTGGCCAGACAGTACAAGGACCTGGACTGACCCTAATTTGGCTACTGGTATAACCCAGGGCCACCAGGTAAAGCCATTCAGCTTTACCAGAAGATCAGACCAGCAGCTGGATTGGATGAGCTTGTGTAAAATATGGAAAACACACATACCTGCAAGGACAGGGATTGTGCCAATGCACTTCACACTCTACAGCAGTGTGGCTGCAAGCACAGTCATGCTATCCACAAGGTAAGAGCTTGCACCAGCAGGAGTCAGCACTGTCTCCAAAGCACCATGTTAACTCCATGGCATTTTTGTCCCAGCAAGCTTGCTTAATCAAGGCGGCGGGGCACCAGGGCTCATCTTGACCAAGCTTCTGAGCTCATGACCGTTGGTGGGTGGCACTTTGAGTGGCCCTGCCATCCAGTGCTCTGAATCTGGGCACTAAAATGAGATAGAATTGGTCCTGGTCTGAATTCTCAGACACTGAAGGCCAGGGAGGATCCTTCAGCCTGCCCTCAGAGGAATCCATCAGGGTGCAGTGAAGTGTCACATCAATTCACAGGTGTTTTTCTCTGCTTAGTTATACCAAGTCAATCACCCTTATGTTGCACGCTCTCTCTTTCTCATTTACTGATGCTGAATTCAGCTGATGCTCTCCCTGGGGTGCTGAGATGGCAACAACGACTGTGGACCTTGACAACTCGGTTTATTGAGGCCAGGGCTTCTGGGAAGTCTCCCCAGCCTCAGCTGCTGAGTAACAAGGAGAAAGCTGAGGCCAGGAAGCTCTGGGAGTACAAGAACTCCGTCATCTCTCAGGTCAGAAACTCTCCAATTCCAGGGGTTAACTCTGTAACCAAGCACTCTTTGGGAACCTTTGCCTGTGGTCTTTGCTGCCCTCCCTGCCTTGGGTTGGGCCACTGTGGGTCTTCCTTCCTGGCAATGGCGGTCCTTCTTGCTTTGATTGATTGGCCCTACTGTTTTGGGTACTTTACCAAGGTGGATCAACAGTG
ACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAGAAAGAAAGAAAACAGTTGGAGACATGCAGTATACATAGGGACAGCTGTGAGAAACCCCCAGCACTGTGACCATTACATTTAGAAAAACTAGTGCATAATGGATGAGATTAGGTCACACGACAACCCTGTAAATGGTAGGCAGCCTCTCCAGCCAAACATTAGAGACAGGGTTTAGGGAAGCAGTCGATGCAATTACCTCATCAAAGCAAAATATATCAAGGTTTATAACGGTCCGTGGGAGAAAAAGAAGCTGGAGAAGCAGAACTGGCAGTGTCTCTCCAGCATGGATGACAGAGGGAAAGAGCTAAATTCAGGTGCACATAGAATTCAGCCTCACAGTTAGTGAAGTGTTCTCTGTAACAGGCAAGGCTGCCCATGTATAGCTGTGCAGTTTGTGCGCTACACAAAAGAACCAAGCCAAGGCTGTGATTTCAGTAGGGCCTGAAATGCAGCCGTTTCTCAAGCCATACATTTCAGGGCAACATCTGCCAAACGAGGGTGACTTTTTCTAACTTCTCAACTTTTCTGCCCAGAAAGATACATTTTTTCCTAATTTGCATAACAGTGTTTTAAGGTCTAGACACAGCCTGGGGCAGGGTAAAGGGGCCAGTGGTTCCCTGAGTCTCACCACAGCGTGGATAAACATCTAGGACTTCAGTCTCCCCTTCTCTGCTGTCATGGGGTCAGGCAGTATTGTGAACATCTTTTCCCTTCCCACGTAGTCTTGCCTACTGGGTGAGAATACTTTGATCAGCAAGGGCAGGTTTCTGTCTCCTTCATGGATGTAACTCTCATGAAGTATGGAGTTGGCTTTTAGGTCTGTACATCGGTCCCCTGTTAGCTTGGTTGCTGTTGGAATCAGAGATTATTTGGCTGGAAGGAAAAGAAATCCACCCAAACCCAGTTGCAGAAAATAGAGCTAGGCCCCACTGCTCATAGGAAGTCACCAGCCACTCCTTTTTTCTTCTCTCTTTCTCAGCTCTCTCGTTCTTAGTTCTTCTTCCTGCTTCTCTCTGTTCTTCTGCCCTGTTCTCCTTCATCTGCCAGACTTGGATTCTCCTCTCCCCAATTTCAATTTACCAAGTGACCTTGGGTAGCTGCAGTGGCAAGTCTTGCCCCATCTCCTTAGGACCTGATGGTCCCAGTGCTCAGCAACATGGAAACTGAGTTTCTGTATCTCTTAGCTCCAATTTGTGAGATAGAGGCTTAGCCTTGCCAGGTGCTCTTACTAGTCCTCTCCAGTAGGGCTTGGCAACAAGGTCACCTCATCCAAATGCGGCCATTTAAGACCCCTTCCATCAGCACCATCTAGACCAGTGGTATGTGAGTAGGGGAGGAGACAGTTCCAAAGAATAGGGTGTGGGTGGCTGGCACCACAAAGGGACCAACACATTTACCATGAGCCCGGTAAGTGAATTCCATGTGCCCTGAGAGTATGAGATCATGTTTTGGTGACTGCAACATGGATGGGACAGGTCAGGCTGCCAACTTCCATAAGAGACCCTTAATTCATCAAGAAAATGGCAACGTGTGCGAGTTTTTCAAAATTCTTTTTTACTTTCCTTTTTTGTGTATAAATAATTCACTTGTAAAGGGGGAAATTGTTTTGTTTTATAGAAAAAGCTGGCACAGGCCATTATAACTGTCCTGTTTATTCGCGAAGGTTTGTGGGAGGAAGGTGGGCCTCATTCATTTAAAAATAAAAATATTTTTATAACAATACAGAGGGAGAGAAAGCGGCTTGTTAAGTGAATTAGTGTGATTCTTCAAATGGACACTTTCCATCGCTCACCCAGTTTTTACTTATTGATGCTATTTCTATAGAAGCAATTCACAATGACACATACCATACCTATGGATTATTTTGGCATCTAGGTTCCGTTCCTGTTCATGCAAAAACGAAAGAGAAGTTAGAGGTGACGTGGGAGAAGATGAGTAAGTCCAAACACAACGGGGTGGACCCAGAGGAAGTTGTGGAGCAGTATGGGATCGACACGATTTGGCTCTACATCCTTTTTGCTGCCCCTCCTGAGAAGGATATCTTGTGGGATGTGAAAAGTAAGTCACCTTCCTCTTCCTGACTTGCTTCCTTTGTGATCTGCCCTGGACTTTGAAGGAGTTTGAGGAAGGAAATGTCTTTGCTGAAGACAGTGGTAGAGAATTCTAGGAATCAGTTCCATAGAGCAAGTAGCAGCTTGACCAGCATCCTGCACCACTCTTAGACGGGTGTTGACAAACATAAGCGAGCCTCAGAATCATTTGGGAAACATGTTGCAGATGCAGATTCCAGTGCTCCGCCCATGCCTGCTGACACAGCCTCCAGAATGGGGCTCAGGAGGTGGCCTTTGAACAAGCTCAGCGGTGATTCCAGTGCACACTCTACGAGGACCATGCTTTGAGAGTGGTTTCCTTGGAGACAGACTGGCTTCTGAGCTACTCCTAGGCCTGCTATAGTCCAAAGAGGCCAGTTCCCTCTTTCTTGATGTACCCTGCAAGGTTTTTTCTAGAACAGTGTCATTCTCCCTCACCAATCCAGAAAGCCCCGGGAGGGGTCTGGGCCTGTTGTTACCTATGGCCTCTTAGTCACCCACAGCACCCTTCATCTCCCCACTTAGGGGAGATTTGTCTCTCCAGAGTTGTTTAGTACTAAAATGACATGAAGTAAAATAATCTTGAGTATCTGGCTATTCTAGAATAAACCCGTCCAACAGTCATTCATTTTTACTTCATGTGATCAGCCCTAAGTGTTGTTGTGGGAAGAGGAAGTCAGATGCCTGGAAACTTGAGCCTTGTGTGAAGTATCCATGTCATTTGAGAAATCACTGTTTATTTTGATTTCCAACTAGCTGTGGCTAGTGGGAAGTGTGGTCTGGAACAGTGGTCACAGATGCCAGTCCTAGAACTAGCTGCCTCAGAATCACTGGGGGGCTTGCAAAGCACAGACAGGTGGAGGTTCTGGCTCCCACCCCTAACCCAGGGGACAGGCTCCAGGAATCTTTCTAAGAAGCCTCCCAGAAGGTTCTGCTGTGCATTCAGGCTTGAGAATGCCTAGCCTAGTGGCCAGACAGTACAAGGACCTGGACTGACCCTAATTTGGCTACTGGTATAACCCAGGGCCACCAGGTAAAGCCATTCAGCTTTACCAGAAGATCAGACCAGCAGCTGGATTGGATGAGCTTGTGTAAAATATGGAAAACACACATACCTGCAAGGACAGGGATTGTGCCAATGCACTTCACACTCTACAGCAGTGTGGCTGCAAGCACAGTCATGCTATCCACAAGGTAAGAGCTTGCACCAGCAGGAGTCAGCACTGTCTCCAAAGCACCATGTTAACTCCATGGCATTTTTGTCCCAGCAAGCTTGCTTAATCAAGGCGGCGGGGCACCAGGGCTCATCTTGACCAAGCTTCTGAGCTCATGACCGTTGGTGGGTGGCACTTTGAGTGGCCCTGCCATCCAGTGCTCTGAATCTGGGCACTAAAATGAGATAGAATTGGTCCTGGTCTGAATTCTCAGACACTGAAGGCCAGGGAGGATCCTTCAGCCTGCCCTCAGAGGAATCCATCAGGGTGCAGTGAAGTGTCACATCAATTCACAGGTGTTTTTCTCTGCTTAGTTATACCAAGTCAATCACCCTTATGTTGCACGCTCTCTCTTTCTCATTTACTGATGCTGAATTCAGCTGATGCTCTCCCTGGGGTGCTGAGATGGCAACAACGACTGTGGACCTTGACAACTCGGTTTATTGAGGCCAGGGCTTCTGGGAAGTCTCCCCAGCCTCAGCTGCTGAGTAACAAGGAGAAAGCTGAGGCCAGGAAGCTCTGGGAGTACAAGAACTCCGTCATCTCTCAGGTCAGAAACTCTCCAATTCCAGGGGTTAACTCTGTAACCAAGCACTCTTTGGGAACCTTTGCCTGTGGTCTTTGCTGCCCTCCCTGCCTTGGGTTGGGCCACTGTGGGTCTTCCTTCCTGGCAATGGCGGTCCTTCTTGCTTTGATTGATTGGCCCTACTGTTTTGGGTACTTTACCAAGGTGGATCAACAGTG
Task1_train_6704
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?
Pathogenic; Bardet-Biedl syndrome 17
TATATTAAAAATAAAATAATTCATGCCCTCTGATCCAGAAATTTCTTAGCCATAAATATGACCCAAAGGAATAACTGGAAAGTATTTTGCATGTGTATGTACATAGATTCATCTCAGCAGTATTTATCCAACAATGGAGTATTTACGGTGTGCCCGTGAAGTGGAATGGTAAGTGGCCACTCCAATTAATGAGAATGATTAGAAAGAGAGGTAGATAACTACTAGTATTGTCTCCATTTGTCAGATGAGTAAAATGAAGCTCAGCTACCTCAGATAACCTGCTCAAGGTAACACAGCCAGGAAGTGACAGAGCCAGGATGTATACCCAGGTGTGGCTGACCCTACAGCCTGCGCTCTGAATCTTCTGAGTAGAGTATTTATGAGTGGGATTGAGACTGAACTTAGGGATCATGTGTATGTGTAAGCCATCACAGACAAAAGCAGTTTTTCACAGTTACTTCCAAAACATTTTTTCTTTTGCCTGAAAATATGATAGACAATTTCTGAATTTTACTCTTGAATTGAATGCTTTTCCTTAAGAGTTCTCAGTTTTGATCTCTGAATTCTTTGAGCAACTTGAGGATTTTAAATACTGGCTATTAAGATATGGATTTAGAATGACCAAAAAGTTACCTTTTTGTTTGAAGATGTAATCTCTGCTTTTTCAAATTCTGCAACTTGTTCTAATAATTCTCTTGAAGAAGAAAGCAAAGATAAAAATTATTCATTTAAAATAGATTTATATCACACGCAAGAAGAGTAAAATCACTGGTACCAACCCATTACATGCCAGAGAGAACAGAGCAAGATGGACCAAACTTCACCATATCAAAAATGTTAGTTGCAAATGGTTGAGAACCTAAACCACATGGACTCAAATGTAATCATCCACAGTACCTGGCATTTTGTATCTACTAGGTATGCAATATCTACTGCTAGAAATAAACCATAATGTTAATACAAATATGAGGAAAATTTATAGTCAACTTTGTATTCTTGAGGTGCTATGAGGAGACTGTTTTATTACATAATGTGTATTGTTAGCTAGTAGGTGTTCAAAAAAGATTCTTAATAAAGTAGTCTCAGAAAAATGAAAATAGTCCATAGTATCTACTGAAAAAGAGTACCACAAATTCCTAGGAAAGACAGATAGTGGGGGTGTGCCATCTGAAGATTTGCAAAGGCCAATGAGAAGTGACTACACACAAGCTTAGAGTGTTAACAGCAGTCAGCTTCTAAGCTTCTTAAAGCACCACCTTCTCAGAGTTTTCTCACCAGTCATCTACTGACAGTGGCAGAAGTTCAATGATTTTCCTCCCCAGCTCATAGGTTGTCCTCAGCGTTGTTCAACACTCTGCATGTGAACTGATGTGCTGTGACTGTGCTTAGAGTAGTTCACGGGGCTTGGCGGTCAGTCCTTCCTGATTTCTGGCATGCTTTTTCTTAAAATGAGTTTCAACTTCACCAATTTTACCATATTTTTTGAATTTGAGCTCTTAGATGTCCATATTATAAGCTTTTTTGTATATTTCCTATTTCAAAGTTAATAAATGTATACTTTTAAATTCCATTATTTAGAAAACTTCCAATGCTACTGGATTGAATTGATGGTATTTATTATATTTGAATTGACTTTTCAACTGTCTCATAATCTCTATTTCTTAGTTGACCAATCTATAAAGACTGATGGTAATACTGACCAAGCTAACAAAAATGCTGTAAGAAATAATTAATGATAGCCTGAAAAGCAATTTCATAAATCTCGATGGCCTTTGTAATACCTAGGAACAGTAGAAACAGAGAACTTTTAAAAGGGTGCTTAGTGGTACCCAAGAGATCACTCAGTGACTCAATGCTTTGCTGTTACCCTACCCAAATTTCCTCACACACTAGCCCCAAGAAAATATGCAGCCAAAGATGTTCACTAACTTTTAAGATTATGCTTGGGCCATTATTGTCACAGTTGCAAGTTCAAATTTTATTACCGGTTTTCAAGTTCAGAGATGTCTGTCTGTAGCTTAAGATACCACTTCTCAGCTTGTGCAAACAGCTGTCGCAGAAGTAACACATTGGTATAGGCAGTGTTGATGAGCTCAGATTCCACCTCACTATGAACCACAGCTTGTAATCCATTGAGGACTTCAGAGACTTCATCTATGGTGAAGGTGTCCTCCACCAGCCTGAAAAACAACCATGATCCAAAACTTATAGAAAAACAACAAGAAAAATCTACAAAATACAGCAAAATTAAGAAACCCACATTCATGTAATCTAAGAAATTCAAAGATTACAGTGAAAATCTCTCTGGGAACTATCTTCTTTATTAATAAACATTGAAAATAATTTAAACTCAATTAATTTTTGACATCTATTCAAATGATTAAATTGTGCACATCCTTTAATACAAGTAAATGCTCAAACACATTCCCAAAACCATCATCTACTTTTTTAACTTTTTAGTATTAAATGTCTTATTTCAAACTCCACTGAAATCAGTCTTATTACATTTAATAATTTCAAAAGTCACCCGGAAGGCATAGTCTCATTTCTTTCTAATATTTCTCTAACATTTTAATAACTGTATGAACTATTCACAGGTTAGTAAACGTCTATGGGAAATAAATGGTAATTATATATATTGCTTCTCTTTGCATTCTTGAGACCCAAAATAATAATAATAATAAAAACTAGCTTATCTTAAAGTTCTACTGAACACTCCACAAAAATGAATATCATCATCAACAATAGCATTAGAAATCTACTCTCAGGGCCAGGCATGGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCAGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAATCTGGCCAACACAGCAAAAACTCTTCTCTATTAAAAATACAAAAAATTACCTGGGTGTGGTGGCACGTGCCTTAATCTTAGCTACTTAGGAGGCTGAGGCAGGAGAATCGCTTGTAACCAGAAGGTGGAGGTTGCAGTGAGCCGACATCATGCCACCGCACTCCAGCCTGGGCGACAAAGTGAGACTCCGTCTCAAAAAAACAAACAAAAAAACAAAACTACTCTTACATAGAGAATGCTTGGGTTGGAAGAGAACTTTGGTGCCATCTTCTACAATCCCCTAACTTTACAGATAGGAACACAGGTTTGAAGAGTGGAGATGACTTGCCTATGGTTACATTGGTGGTGACTAAACCCCACAATCATCTTCAGCAATGATTCTGGGCAAAGGATTCATGCCCAACAGCTAAATCCTTGAAAAAGCTTCTGTGTGTGCCTTCCAGTTTCAATGACAGTATCACAGTAACACAGTCCTCTCCTCTCCCTACCTCTACCCTCCAAAGTCCCTTCTCCCTCAGATTCTCAGCAGATGAAGAGCAGCTACCGCAACCTCAGCTTTATTTTCTTCCCTACTTCCAAAAAGACATCATCAAGCAAGACCCAGTTACACTAAAGCATTATCATAGTTAAACTCAAGTTAATAGTATTTGTTTTATAATTCTTTAATGTTTCATCTAGCCAGCAGAATTTAGTCATTCTCAAAAAACCACAACTTTTTAAATATAAATCCTTATTAAAATATTAATAATCTTTCTATATTCTTCAATAGAACATATGTTCTCGCCAATTAAATTGTTGCTTTCATCTGCTGGGGGATAGGAAACCAGATTACCAGATGAGTTTAATGGACTGAATGGTCTAAGGCTGATGGCCTCTAATACTGAGACATTCATGAGTTTATGGCAGCTGGAGCTCACTTGGAGGTCTTTTTCACTTATATCTGACTTGACATTCATCTCTTGCTACAAATCAGCTACGGTCCAACCATTATCATCTCATGCTAGAAATCAACTAACAATTTTGGTACTAGTCAGCATTATGATTTCCTGCTGTTTTCCTCTCTACTAATTATTCAGTATGAAACACAGAAGTGTTTTCTCACTAATTGCCATGTCTTATAGCTCTAACCATTTAATTAATAACTCAAGTAATTAAAGTTCTGGAATCTTCAATACAACAAGCCAATCATTAATCCACAAACCCTTGGCAACTTCCTTCTCAAACTCTGCCATCCTACAAT
TATATTAAAAATAAAATAATTCATGCCCTCTGATCCAGAAATTTCTTAGCCATAAATATGACCCAAAGGAATAACTGGAAAGTATTTTGCATGTGTATGTACATAGATTCATCTCAGCAGTATTTATCCAACAATGGAGTATTTACGGTGTGCCCGTGAAGTGGAATGGTAAGTGGCCACTCCAATTAATGAGAATGATTAGAAAGAGAGGTAGATAACTACTAGTATTGTCTCCATTTGTCAGATGAGTAAAATGAAGCTCAGCTACCTCAGATAACCTGCTCAAGGTAACACAGCCAGGAAGTGACAGAGCCAGGATGTATACCCAGGTGTGGCTGACCCTACAGCCTGCGCTCTGAATCTTCTGAGTAGAGTATTTATGAGTGGGATTGAGACTGAACTTAGGGATCATGTGTATGTGTAAGCCATCACAGACAAAAGCAGTTTTTCACAGTTACTTCCAAAACATTTTTTCTTTTGCCTGAAAATATGATAGACAATTTCTGAATTTTACTCTTGAATTGAATGCTTTTCCTTAAGAGTTCTCAGTTTTGATCTCTGAATTCTTTGAGCAACTTGAGGATTTTAAATACTGGCTATTAAGATATGGATTTAGAATGACCAAAAAGTTACCTTTTTGTTTGAAGATGTAATCTCTGCTTTTTCAAATTCTGCAACTTGTTCTAATAATTCTCTTGAAGAAGAAAGCAAAGATAAAAATTATTCATTTAAAATAGATTTATATCACACGCAAGAAGAGTAAAATCACTGGTACCAACCCATTACATGCCAGAGAGAACAGAGCAAGATGGACCAAACTTCACCATATCAAAAATGTTAGTTGCAAATGGTTGAGAACCTAAACCACATGGACTCAAATGTAATCATCCACAGTACCTGGCATTTTGTATCTACTAGGTATGCAATATCTACTGCTAGAAATAAACCATAATGTTAATACAAATATGAGGAAAATTTATAGTCAACTTTGTATTCTTGAGGTGCTATGAGGAGACTGTTTTATTACATAATGTGTATTGTTAGCTAGTAGGTGTTCAAAAAAGATTCTTAATAAAGTAGTCTCAGAAAAATGAAAATAGTCCATAGTATCTACTGAAAAAGAGTACCACAAATTCCTAGGAAAGACAGATAGTGGGGGTGTGCCATCTGAAGATTTGCAAAGGCCAATGAGAAGTGACTACACACAAGCTTAGAGTGTTAACAGCAGTCAGCTTCTAAGCTTCTTAAAGCACCACCTTCTCAGAGTTTTCTCACCAGTCATCTACTGACAGTGGCAGAAGTTCAATGATTTTCCTCCCCAGCTCATAGGTTGTCCTCAGCGTTGTTCAACACTCTGCATGTGAACTGATGTGCTGTGACTGTGCTTAGAGTAGTTCACGGGGCTTGGCGGTCAGTCCTTCCTGATTTCTGGCATGCTTTTTCTTAAAATGAGTTTCAACTTCACCAATTTTACCATATTTTTTGAATTTGAGCTCTTAGATGTCCATATTATAAGCTTTTTTGTATATTTCCTATTTCAAAGTTAATAAATGTATACTTTTAAATTCCATTATTTAGAAAACTTCCAATGCTACTGGATTGAATTGATGGTATTTATTATATTTGAATTGACTTTTCAACTGTCTCATAATCTCTATTTCTTAGTTGACCAATCTATAAAGACTGATGGTAATACTGACCAAGCTAACAAAAATGCTGTAAGAAATAATTAATGATAGCCTGAAAAGCAATTTCATAAATCTCGATGGCCTTTGTAATACCTAGGAACAGTAGAAACAGAGAACTTTTAAAAGGGTGCTTAGTGGTACCCAAGAGATCACTCAGTGACTCAATGCTTTGCTGTTACCCTACCCAAATTTCCTCACACACTAGCCCCAAGAAAATATGCAGCCAAAGATGTTCACTAACTTTTAAGATTATGCTTGGGCCATTATTGTCACAGTTGCAAGTTCAAATTTTATTACCGGTTTTCAAGTTCAGAGATGTCTGTCTGTAGCTTAAGATACCACTTCTCAGCTTGTGCAAACGGCTGTCGCAGAAGTAACACATTGGTATAGGCAGTGTTGATGAGCTCAGATTCCACCTCACTATGAACCACAGCTTGTAATCCATTGAGGACTTCAGAGACTTCATCTATGGTGAAGGTGTCCTCCACCAGCCTGAAAAACAACCATGATCCAAAACTTATAGAAAAACAACAAGAAAAATCTACAAAATACAGCAAAATTAAGAAACCCACATTCATGTAATCTAAGAAATTCAAAGATTACAGTGAAAATCTCTCTGGGAACTATCTTCTTTATTAATAAACATTGAAAATAATTTAAACTCAATTAATTTTTGACATCTATTCAAATGATTAAATTGTGCACATCCTTTAATACAAGTAAATGCTCAAACACATTCCCAAAACCATCATCTACTTTTTTAACTTTTTAGTATTAAATGTCTTATTTCAAACTCCACTGAAATCAGTCTTATTACATTTAATAATTTCAAAAGTCACCCGGAAGGCATAGTCTCATTTCTTTCTAATATTTCTCTAACATTTTAATAACTGTATGAACTATTCACAGGTTAGTAAACGTCTATGGGAAATAAATGGTAATTATATATATTGCTTCTCTTTGCATTCTTGAGACCCAAAATAATAATAATAATAAAAACTAGCTTATCTTAAAGTTCTACTGAACACTCCACAAAAATGAATATCATCATCAACAATAGCATTAGAAATCTACTCTCAGGGCCAGGCATGGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCAGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAATCTGGCCAACACAGCAAAAACTCTTCTCTATTAAAAATACAAAAAATTACCTGGGTGTGGTGGCACGTGCCTTAATCTTAGCTACTTAGGAGGCTGAGGCAGGAGAATCGCTTGTAACCAGAAGGTGGAGGTTGCAGTGAGCCGACATCATGCCACCGCACTCCAGCCTGGGCGACAAAGTGAGACTCCGTCTCAAAAAAACAAACAAAAAAACAAAACTACTCTTACATAGAGAATGCTTGGGTTGGAAGAGAACTTTGGTGCCATCTTCTACAATCCCCTAACTTTACAGATAGGAACACAGGTTTGAAGAGTGGAGATGACTTGCCTATGGTTACATTGGTGGTGACTAAACCCCACAATCATCTTCAGCAATGATTCTGGGCAAAGGATTCATGCCCAACAGCTAAATCCTTGAAAAAGCTTCTGTGTGTGCCTTCCAGTTTCAATGACAGTATCACAGTAACACAGTCCTCTCCTCTCCCTACCTCTACCCTCCAAAGTCCCTTCTCCCTCAGATTCTCAGCAGATGAAGAGCAGCTACCGCAACCTCAGCTTTATTTTCTTCCCTACTTCCAAAAAGACATCATCAAGCAAGACCCAGTTACACTAAAGCATTATCATAGTTAAACTCAAGTTAATAGTATTTGTTTTATAATTCTTTAATGTTTCATCTAGCCAGCAGAATTTAGTCATTCTCAAAAAACCACAACTTTTTAAATATAAATCCTTATTAAAATATTAATAATCTTTCTATATTCTTCAATAGAACATATGTTCTCGCCAATTAAATTGTTGCTTTCATCTGCTGGGGGATAGGAAACCAGATTACCAGATGAGTTTAATGGACTGAATGGTCTAAGGCTGATGGCCTCTAATACTGAGACATTCATGAGTTTATGGCAGCTGGAGCTCACTTGGAGGTCTTTTTCACTTATATCTGACTTGACATTCATCTCTTGCTACAAATCAGCTACGGTCCAACCATTATCATCTCATGCTAGAAATCAACTAACAATTTTGGTACTAGTCAGCATTATGATTTCCTGCTGTTTTCCTCTCTACTAATTATTCAGTATGAAACACAGAAGTGTTTTCTCACTAATTGCCATGTCTTATAGCTCTAACCATTTAATTAATAACTCAAGTAATTAAAGTTCTGGAATCTTCAATACAACAAGCCAATCATTAATCCACAAACCCTTGGCAACTTCCTTCTCAAACTCTGCCATCCTACAAT
Task1_train_6705
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?
Pathogenic; Cataract 18
AGATAACAGCCACCCCCATCTGTGGTTGGTGACAGTGGCCTGTGAAGGCAGAGGAGCACCTAAGCATCCTGTACACGGGCCCCTTCTGCCCCCTGGTGTCACTGTGGGGAAAGGCAGTGGGGCCCCCTGGAAGCTAGAGGAGGAAGGCTCAGTAGGTCCCCAAGTTCCTGATTCCTGGTAGAGCCACACAGGAACCCCAGGCTGCTGAGGACTCGGTGGGTAGGGACTGAGCAAGGGGAGAGGCCCACAGCCCAGCCACATATGGGCAGGCAAAACAGCAAAGGCCTGGATCCCTGATTTCGTCCCTTCCCTCCCTGCCACAAACACTCACGGTGTCTGATCTGGGTGGATTCAGGGCTGGGGGCCTGGTGGGTCTGGGGAACGTGATGGTGAGTGGCAAGGGCAGCTCTTGGCAGTGCTGCCGTTTGTTAGTGTGGAGCTGACAGGCATGTTGGCCGCACCAGGACCTCCTGGGTGGGGGCTCAGAACTGCTCAAGAAGGAAGGGCTCCAGAGGTAGGTAGGAGGAGCTGGCTACAAGCCCCAAAAGAATAAGATGGGCAGAGCGGTTTTAAATAAGACAGAATATGAGATTCCAATAAACAAGGCCAACCCAAGGGAGTAGAGTTACATTTTGAGAGTGAGTTTGAAAAGCAGAGAAATGACAAAAGCGATCCCTGCATTGAGCAGATTCCAACAGGGCAGGATGGCAGGAGAGCAAACCCAAACGGGTACGTGTTCCTCTATGGGATGCCAGCGCCACAGCAGGAACTGCTGTGTGGCCCAATGTGTCTCCTAGCTGGGCTCTCCTGCTCTGGGCCCTCCTCATCCCTCAGCCTCAAGCCCCTCGAGGGCACCCAGTGGACCAAACACACAAGGGACTATTAGATGTTTCTGCAAAGACTTCACAGAACTCTTGTTTCACATGACTTCAGCTAGCTTTTCCCTATCTTGATCCTTGCAATTCTTGCAAAATGGAGATTTCTGCAGTCATATTCCCAGACTAGGATCCATTTTCAGCTCCAGTCCAGCAGGCCCAACGGCTTTTACCATTTCTTTCACTCAGAATGATTCAAATGGAACTTGTGTTTCCATGCAAACCATCTCTCCCTCCCATATCCCTCTACACCCTTTCTCTGCAGAGATGCAGGCATCAAATTCAGACCTCAGGCATGGGTCTCCCTTCTCCTTGCCCCATACTGAATCAGCCACCCATGGAGCCCTGCCCAACCTCTGTCCCTGTGGTCTGGATTCCACCTCATCCTTTCCACTTTGGCTTCAACCCCCTGATCTACACCAGTGGTTCTCAACCTTGGCTGCTCATTGGAATCACTTGGAGATGTCTGGATCCCACCCCTAGAGACTCTAATTTGCAGCCAAGGTTGAGAACAACAGTCCGGGCACTGTCAACATTCCATGCCTAGAATGTCTTAGGAATTTATAAACTGGTACCTGCCACCAAGATTTCAAGCTCGACCACCCAAGTGACATTGGGGTTGTCTCTACTGACACCTTTCCGGGTTGAGATGCACCCTAAGCTAAAAACTAGAGGAAGAGAGGTCACCACCTCCCAAGGTGATCCATTCCTGCTTTGCACAGCTCTATTAGAAAATGATCCTTAAATTGAGTCATACGTCTGTATTCCTCTTTCACCTACCCATCTATCCCAAGGGCAGACTGTACCTGTTTCACACAGGTGTGACCTTCAGACATTTGAGAACAGCTTTCCAGAACTTCTGGGTCTTTCTCTCCCCAAACTGGACAAGGCCCAGGTGCTCTGCCTTCTCTGCATGATACTGCCCAGAACATTCCAAGTGAGGCCTGCCCAGCAGAGGATAGGATGGCCACTGCCCTGCTTTGAGAAAGGCCTGCCCAAGTACCCAGATGTGTGTGTAAGGAGCCCACAGGCAGGGAGCCCAGCCTTACCTTACACTGATCCAGCGGTGTGTCCTCGGCCTCCTGGAAGACCACACTGAAGGAGATGCTCTTGGGGTCAGAGGAGAAGACCCAGCTGATGGTGAGGCCTGCCTCGGCCACAGTGATGGGGATCAGGCTGTAGGTGCTGGACCTCACAAACAGCTCCCTGCTACCCTCCCCGAAGCTGGCGATCTCATCCACTGTGAGGGGTACTTTGATCCTAAAATAAAAATACAGAGAGGGACCTGATTGACTGGGCAAAGTGTTTGTGTCCACTGGCCAGGTCATCTGTGGCTCAGAGGTGGCTGGAGACTTCGGAGACTCTTGAGAGGACAAGCCCTGGGTAACCTTGGCCAACATGCTTAATTATGGGATGGGCAGCTCACTCCAACAAATGCTTCCTGAGCGCTAACTACATGCCTGGCATAGGTCTAGGCACGGAGGAGACAGCAGTAAAAAATACAGATGACACCTTTGCCTGTGTGGAGGTTAAAGCCCATGGGAACTAAGGAACTGAGGATGGCCTGACCTGCTCCACGGCCCTCATGGACAGGAAGCAAGTGCCGAGGCACAGCTTTTTGCTGCTCTCCTGAAGATGCCCTGCTGCTCAGCCATCTGTTTTTTCTCTGCCATTTCTCCTTCCAGTTCCCTGCCTCGCCCTTTCACCTAATTAGTACAAGCCTCCCAGCCTTCTGATATAGTCCATCTTCTCAGCTGCATCTGGCGTCCATTGTAAGATTCCACATGGACACCCTGACCTTTCCTCAAATGCCAACATCCCATACTCTTTATAATGCAAGGGTGGTGCAAGTAATACAACGGTTTTGGGGAGAAAAGCTTGTTCTTACTCTCCCTGGGTAGATAAAAGCTTCTTCAAGAAGTTTATAAGGTTCATTGACAGTGAGTTCCTCTGTTTTTGGGGTTCTGTGCTGGACCCAGAGTGTGACGTGAAGAATGTGAGGTTAGGGGCCAAGGGACCTGCCTCACTGCATCCCTGCTGCATAAGCCTCAGTTTCTTCATCTGCCAAACAAGGACAACCACACCTGCCTCAGGACTGCTGCAAGGACTAGATTACAAGATGAACCCAGGGAGCTTGCTCCTCAGGGCCCCTTCCAGGCCGAGTGGCACCACTCCTACACTGTGCAACTCTGGAGGCAGCTAGGTTAGCTCATGATCATGGAGACAGAGCCTCCAGTGCAGAGCTGCAACTTAGGAGCAGTGTGGCCTTGGGTGAGTCACTCACTCACTTTGAACCTCGGTTTCTCAACTGTGAAATGGGAAGGTGGCGGCCATCATAGGCCACGCCCTGTGCTCAACAATTTTGCATGTTACTGCAATGGCTCCTTGAGGAAGGCATGACTGTTGCCATTCTACAAAAGAGGAAACTAAGATTCTAAAAGATTGAGAAATTCAATCCAGGCTCACACAGGTCTGAGGCAAAGCCATCATCTTCCTACCATACCAAACTGCCTTTTGTGGAGAAAATGTATTACTATCCCCTTTAACACAGGGGAGGGAATTAACTTCAAAGAGGTTAGGTAACTTGCCCAACACTGCGCAGCAAGTGGTGGTGCTGAGCGTTCATCTGCCTCCAAAGCTGTGGAGATGAATGGACAGACTCCCCAAAGCTAATGAGAACGGTAAGAAATGATTAAAAAACCAGGATGCTTTAAAGAACAGCTCCAATACTCACCTTTGTGAGAATTCAATTCAATGCGATACTTCTCCATGTGTTAAATTTTATTTCTAATTAAGAACCCTCGACCAACATTTACAATTTTCAAGAATCTGAGGGCAGGTTTGGGGGGTCCATTCTGGAACAGACATCTTTCTTGTAATGTGGAAATCTTACCATATTACCATGTAAAAAGTCACTTACCCTGACATAATGCCCCATTAATACATTAATGCTGGAGCATTTTATAATTTTATGCTCCAGAATTCTCCCCTGGCACCCAGGTATTTGGATTGTGCCTCAATCATCTAGTCTAGACATCATCTAGACATCATCTATTCAGTGACAAGGACAATACTCAGCCTCTCCAAAGCAGATCTTAACAAAAACAAATCAAAGGTTTGCTCAAATATAATATAATCTTAAGATGCCTATTGTCTATAAGGCTCATGTCACAGATGTGAATTCCACTGAGTGACCTAAGAAATTTCAGTTTACATGAGTC
AGATAACAGCCACCCCCATCTGTGGTTGGTGACAGTGGCCTGTGAAGGCAGAGGAGCACCTAAGCATCCTGTACACGGGCCCCTTCTGCCCCCTGGTGTCACTGTGGGGAAAGGCAGTGGGGCCCCCTGGAAGCTAGAGGAGGAAGGCTCAGTAGGTCCCCAAGTTCCTGATTCCTGGTAGAGCCACACAGGAACCCCAGGCTGCTGAGGACTCGGTGGGTAGGGACTGAGCAAGGGGAGAGGCCCACAGCCCAGCCACATATGGGCAGGCAAAACAGCAAAGGCCTGGATCCCTGATTTCGTCCCTTCCCTCCCTGCCACAAACACTCACGGTGTCTGATCTGGGTGGATTCAGGGCTGGGGGCCTGGTGGGTCTGGGGAACGTGATGGTGAGTGGCAAGGGCAGCTCTTGGCAGTGCTGCCGTTTGTTAGTGTGGAGCTGACAGGCATGTTGGCCGCACCAGGACCTCCTGGGTGGGGGCTCAGAACTGCTCAAGAAGGAAGGGCTCCAGAGGTAGGTAGGAGGAGCTGGCTACAAGCCCCAAAAGAATAAGATGGGCAGAGCGGTTTTAAATAAGACAGAATATGAGATTCCAATAAACAAGGCCAACCCAAGGGAGTAGAGTTACATTTTGAGAGTGAGTTTGAAAAGCAGAGAAATGACAAAAGCGATCCCTGCATTGAGCAGATTCCAACAGGGCAGGATGGCAGGAGAGCAAACCCAAACGGGTACGTGTTCCTCTATGGGATGCCAGCGCCACAGCAGGAACTGCTGTGTGGCCCAATGTGTCTCCTAGCTGGGCTCTCCTGCTCTGGGCCCTCCTCATCCCTCAGCCTCAAGCCCCTCGAGGGCACCCAGTGGACCAAACACACAAGGGACTATTAGATGTTTCTGCAAAGACTTCACAGAACTCTTGTTTCACATGACTTCAGCTAGCTTTTCCCTATCTTGATCCTTGCAATTCTTGCAAAATGGAGATTTCTGCAGTCATATTCCCAGACTAGGATCCATTTTCAGCTCCAGTCCAGCAGGCCCAACGGCTTTTACCATTTCTTTCACTCAGAATGATTCAAATGGAACTTGTGTTTCCATGCAAACCATCTCTCCCTCCCATATCCCTCTACACCCTTTCTCTGCAGAGATGCAGGCATCAAATTCAGACCTCAGGCATGGGTCTCCCTTCTCCTTGCCCCATACTGAATCAGCCACCCATGGAGCCCTGCCCAACCTCTGTCCCTGTGGTCTGGATTCCACCTCATCCTTTCCACTTTGGCTTCAACCCCCTGATCTACACCAGTGGTTCTCAACCTTGGCTGCTCATTGGAATCACTTGGAGATGTCTGGATCCCACCCCTAGAGACTCTAATTTGCAGCCAAGGTTGAGAACAACAGTCCGGGCACTGTCAACATTCCATGCCTAGAATGTCTTAGGAATTTATAAACTGGTACCTGCCACCAAGATTTCAAGCTCGACCACCCAAGTGACATTGGGGTTGTCTCTACTGACACCTTTCCGGGTTGAGATGCACCCTAAGCTAAAAACTAGAGGAAGAGAGGTCACCACCTCCCAAGGTGATCCATTCCTGCTTTGCACAGCTCTATTAGAAAATGATCCTTAAATTGAGTCATACGTCTGTATTCCTCTTTCACCTACCCATCTATCCCAAGGGCAGACTGTACCTGTTTCACACAGGTGTGACCTTCAGACATTTGAGAACAGCTTTCCAGAACTTCTGGGTCTTTCTCTCCCCAAACTGGACAAGGCCCAGGTGCTCTGCCTTCTCTGCATGATACTGCCCAGAACATTCCAAGTGAGGCCTGCCCAGCAGAGGATAGGATGGCCACTGCCCTGCTTTGAGAAAGGCCTGCCCAAGTACCCAGATGTGTGTGTAAGGAGCCCACAGGCAGGGAGCCCAGCCTTACCTTACACTGATCCAGCGGTGTGTCCTCGGCCTCCTGGAAGACCACACTGAAGGAGATGCTCTTGGGGTCAGAGGAGAAGACCCAGCTGATGGTGAGGCCTGCCTCGGCCACAGTGATGGGGATCGGGCTGTAGGTGCTGGACCTCACAAACAGCTCCCTGCTACCCTCCCCGAAGCTGGCGATCTCATCCACTGTGAGGGGTACTTTGATCCTAAAATAAAAATACAGAGAGGGACCTGATTGACTGGGCAAAGTGTTTGTGTCCACTGGCCAGGTCATCTGTGGCTCAGAGGTGGCTGGAGACTTCGGAGACTCTTGAGAGGACAAGCCCTGGGTAACCTTGGCCAACATGCTTAATTATGGGATGGGCAGCTCACTCCAACAAATGCTTCCTGAGCGCTAACTACATGCCTGGCATAGGTCTAGGCACGGAGGAGACAGCAGTAAAAAATACAGATGACACCTTTGCCTGTGTGGAGGTTAAAGCCCATGGGAACTAAGGAACTGAGGATGGCCTGACCTGCTCCACGGCCCTCATGGACAGGAAGCAAGTGCCGAGGCACAGCTTTTTGCTGCTCTCCTGAAGATGCCCTGCTGCTCAGCCATCTGTTTTTTCTCTGCCATTTCTCCTTCCAGTTCCCTGCCTCGCCCTTTCACCTAATTAGTACAAGCCTCCCAGCCTTCTGATATAGTCCATCTTCTCAGCTGCATCTGGCGTCCATTGTAAGATTCCACATGGACACCCTGACCTTTCCTCAAATGCCAACATCCCATACTCTTTATAATGCAAGGGTGGTGCAAGTAATACAACGGTTTTGGGGAGAAAAGCTTGTTCTTACTCTCCCTGGGTAGATAAAAGCTTCTTCAAGAAGTTTATAAGGTTCATTGACAGTGAGTTCCTCTGTTTTTGGGGTTCTGTGCTGGACCCAGAGTGTGACGTGAAGAATGTGAGGTTAGGGGCCAAGGGACCTGCCTCACTGCATCCCTGCTGCATAAGCCTCAGTTTCTTCATCTGCCAAACAAGGACAACCACACCTGCCTCAGGACTGCTGCAAGGACTAGATTACAAGATGAACCCAGGGAGCTTGCTCCTCAGGGCCCCTTCCAGGCCGAGTGGCACCACTCCTACACTGTGCAACTCTGGAGGCAGCTAGGTTAGCTCATGATCATGGAGACAGAGCCTCCAGTGCAGAGCTGCAACTTAGGAGCAGTGTGGCCTTGGGTGAGTCACTCACTCACTTTGAACCTCGGTTTCTCAACTGTGAAATGGGAAGGTGGCGGCCATCATAGGCCACGCCCTGTGCTCAACAATTTTGCATGTTACTGCAATGGCTCCTTGAGGAAGGCATGACTGTTGCCATTCTACAAAAGAGGAAACTAAGATTCTAAAAGATTGAGAAATTCAATCCAGGCTCACACAGGTCTGAGGCAAAGCCATCATCTTCCTACCATACCAAACTGCCTTTTGTGGAGAAAATGTATTACTATCCCCTTTAACACAGGGGAGGGAATTAACTTCAAAGAGGTTAGGTAACTTGCCCAACACTGCGCAGCAAGTGGTGGTGCTGAGCGTTCATCTGCCTCCAAAGCTGTGGAGATGAATGGACAGACTCCCCAAAGCTAATGAGAACGGTAAGAAATGATTAAAAAACCAGGATGCTTTAAAGAACAGCTCCAATACTCACCTTTGTGAGAATTCAATTCAATGCGATACTTCTCCATGTGTTAAATTTTATTTCTAATTAAGAACCCTCGACCAACATTTACAATTTTCAAGAATCTGAGGGCAGGTTTGGGGGGTCCATTCTGGAACAGACATCTTTCTTGTAATGTGGAAATCTTACCATATTACCATGTAAAAAGTCACTTACCCTGACATAATGCCCCATTAATACATTAATGCTGGAGCATTTTATAATTTTATGCTCCAGAATTCTCCCCTGGCACCCAGGTATTTGGATTGTGCCTCAATCATCTAGTCTAGACATCATCTAGACATCATCTATTCAGTGACAAGGACAATACTCAGCCTCTCCAAAGCAGATCTTAACAAAAACAAATCAAAGGTTTGCTCAAATATAATATAATCTTAAGATGCCTATTGTCTATAAGGCTCATGTCACAGATGTGAATTCCACTGAGTGACCTAAGAAATTTCAGTTTACATGAGTC
Task1_train_6706
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.
Pathogenic; Hypertrophic cardiomyopathy
CTCGGCCTCCTCCAGCTCAGCGTCCATGGGCCACAGAATTCACATAGGCAAGCCAAGGGCCACAGAGAGGAAAGAAGGAGAGAGGGAAAGAAGGAGGAAAGGGAAGAGGGGAAGGAGAAATGTGGGACAAAGAGGGAAAGGAAGGAAGGAAGGAGGGGAGGGAGGGAGAAAAGGAGGGAGGAAGGAAAAAAAGGGGGAAGGAAGAAGGAAAAGAGGAAAGGAAGAAAGGAAAGGAGGGAAGAAGGGGAAGAAGGGGAGGAAAATGGGAGGGAAGGCAGGAAAGAAGAAAGGACGAAAGGGAGGGAGGTGGGTAGGAAGGGAGGGAGGGAGAAAAGGAAGAAAAAAGAGGAGGGGAGGGAAGGAAGGAGAGAAGGAAAAAAGAGAGGGAGGAAGGGAAATAAGTCAGAAAGGAAGGCCGGCAAGAAGCCATTTATTCATGAGGCCCATGGGGTGGGGACAGAGCTGCTGTCACAGGTAAGCACAGCCTGAGAGGGGCCAGAGACGGCAACCACGTGGAGAGGTCCAAGGGTTTTTGCAGGAGTCTTGGTAAGGCTCCCCTCCTTCCCACGACTCCAGGCCGCTGGTGTCAGCATCACACATGGGAGATGAGACGTCCCTGCACAGCCTTCCCTGGGCTTCCTGAGAGCAAAGGCAGTGCAGATTACAGAGGAGGAGGGAGACGGAGGCAGCAGGATGTCAAGTGAGCACTGCAGCTGGTGGAGTGTGGGCAGGTGGCAGCAGCGGGTTCAGGAGGGAGTGGGTGCCTACCTGGGCACGAGGTTTAGCTGGACATGATGTGCTTCACAAATGCTGGAAAGAAGAGGAGAGTGAGTGGCAGGAGTGCAACATGGGGAAGCCATGGCTGGGAGCCTGGGTCCCAGCACTCCCCTCCCAGAAGACCCCTGCCCCTGCTGAGCCCACCTTCATAGTTGATGCAGCCATTGGAGTCCTCTTGCCCAGCCATCAACTTCTCCACTTCGTCTTCTGTCAGCCTCTCACCTGGCAGGAGTGGGAGGCTGAGTCAGCACCGTGCGTGCAGAGGCATGATGGGGTGGGGGCACCCACTGAATCCCTCTAGATGGTGGCTCAACCTCTCCAGTATTCCCACAACCAGCACTGTTCACAAGACCTTGGCCATCACCCCATTTCTGAGGCCAGGAGAATCAGTGACAAGTTAAGAAGGGGCCTGGGGTGCAGTACGTGCTGTCCTCTGTCCCACTAGGCTGGGAGGGGGTCCCTCCGCCAGGACGAAGCCAGGGCTCCCTAGAAGCAGTCCCTTGGGGCAGCCCCTTGAGGCTAGAGGAAGGGCCCATGGGGTGGAGTTGGGGATCTTGGGAGAGGGTGGTGGAGGGAGCCAAGAGACCACCCGCTGCTCCCCAAGTCTGGTATTCTCCTGCCTCCGTACTTCTGTGTGCTGTGCTGGCCCCCCTTCAAAATGCCAGCCGCAGCTCCCCCTTCTTACCCCCACCTTTAGACACACATGCACACACAGAGAGAGAGAGGAGAGAGAGACCAGCACGGAGCTGAAACAGTAGACACTCAAATGTTTGCTGCAGGAAAAAATCACTTTGAAGAGGGACCCCCTGCTGCAGGCAGCCGATGGTAGGGGTATAAGTGGGAGGTACACAGGGCTCCACAGAGGTCAGGATCCCCCCAGGCGGCAGGCACTTGACCTGCTTGACCACTTAGGGCTGTGGCCCTGGAATTTGACCTTGGAGTAATGACCACCAGGACGGTGGCCTGGAGTCGTGGGAAGGAGGGGAGCATATCAAGACGGCTCCTTCCTGCCCTGCTCTGTCCCCAGAGCTGATGTCATCCCCCTTCTGTGAGCTGCACCAGCATGCTTGCTTTACTCTCCTCCTAAGTAACATTTCTGTTGTCTGCCATTGAGGCTCCCTAATTATGTAACTCTCTCCATTTCACCAATGGGTCACAGGCCTGGGGGGCAACAGAGTGGTTTCTCCCAGGATGTCCCTGGAAGGAGTTGGGGTAGGGGAGGAGGCTGCCCTCACCCAGCGTGGCCAGCACGTGGCGAAGCTCAGCACCCATGACAGTGCCATTGCCCTCCTTGTCGAAGACCCGCAGCCCCTCCACGAAGTCCTCATAGGTGCCTGTGTCCTTGTTCTTGGAAATGTGCTGGAGCATAGGCAGGAAAGTTTCAAAGTCCATCATCTTGGTATTGAGCTCTGCAGAGAAATGGTCCCAGGTTCCAGGGTCTAAGGCTGGGGTGGGCACACCCCTCCCCCATGCCTGATAATGAGGAGCTATCCCCACCTCTCACACAGTTCTACAACAGTCTACACCAGTTCTCACAGCAGTCTACACCAGTTTGCCATTTAAAAGCAAACTACCATCGCGAGGCACTTTACAGTCTACTGAGCAATGCACTGTTTCCATAGCCCTTTGCTATTCACAAAGGGAGTTTGCTGCCCTGAGCCACCACGGAGGGCTCTGTCCAGAACCCCTTGCCTACTTTTGGGAAACAGTCCTCCCCTCGTGGCATTTTCTTATAGACCTCACCCTCCACCACCTGTGATTGGGTCAGGAGCAGCTAGGCCAATCAGAGACCTTCCCTGGGACTTTTGAACCCTTGGTGGGGGCTTGGGCCTCACTCCTTTTTTTTTTTTTAGCTTTAAAATTTTATTCATTTATGTATTTATTCATTCATTTATTTATTTTTAGACACGAGGTCTTCTTGTTACGTCACACAGACTGGAGTACAGTGGTGTGATTATAGCTCACTGCAACCTCAAATTCCTGGGCTCACGGGATCCTCCTGGCTCAGCTTCCTGAGTAGCTGGGACCATAGGTGCATGTCACCATGCCAAGCTAAATTTTTAATTTTTGTAGAGATAGAATCTCACTATGTTACCCAGGCTGGTCTCACTCCTGGCCTCAAGTGATCCTCCCAAAGCATTGGGATGACAGCATCCCACTGCCCACTGCTGTCACTGCCCGACCTTCTCACTTCTCCATAGGTGTCAGCGCCTACCACCAGGGGGCCTGGCAAATCAGCATGGATCCAGATGCTCCAGCAAACCATTACTGCATGTCACCTGGTCGGCATGGCCCTGTGACTGGCCTCGGTGCCCTCATCGGGACAATGCGAGATGTCAGGAAAGATTCTCGTGCTATCCCGCAGGATGGATGGCAGCCCACCCAGCCAGTCTCCCCGGTACTAACACTATGGGGGCTCTCGGGCAGGTGCACTACCTTCCTGTCTTGGCTTCCCCAGGACACGGAGCACTTCTGCCTGTGTGGGGTTCTGGCCCAGCGCCCGCAGGACATCCCCACACTGCCCGTAGGTGATCTTCATCTCACACTTGGGTGTGCGGTCGAACAGCATGAAGGCTTCCTTGAACTCTGCCAGGAGAGGGCAGTGAGCCACAGACACTCCCAGGGTCAGCCTACCCCACTCCCCACACCCCTGGCAGGACCCTCAGACCAGGGAACCCCAGCCCAATCCTGCAACCCCTGGGTTCAAGACCCCTGCTCACCTTCAATCTGCTCAGGTGTGAACTCAATCTGAAAAGAGACCCCAAAGACTCAGATGCCCGGCTTAAAAGGTGGGGCCACACCTCCTCCTGGGCACTCGGTGGCCAGCCCAGAATGTCAACTGTCTCAGCCTGTCCCATTCCAGCATCCCAGCCTGCACCCCCAGGACCTCCTGCAGTCCATCTTGACGCCCTCCTGCCTCCTTGCCCCCCTCCACCTCTCCAGCCAGAAGGCCTTGAGGCTGTGTGCACCGAGGCCCTGATGCTCGGTGGACCCTGGCAGGGGTAGCAGTGAGGAGGGAGGCCACATGCCCAAGGCCTCAGGCCAGCGTGGGCCTTACCTGATGCTCCCGGTTCTGGACAGATGTACCTTAAGCCACAAGCCCCAGTCAGGCTGGCTTTGCTTGGGGCCTGGTGGGCAGGACTGTCAGCAAAAGTGAGATGGGAGGGCCCAGGGTGGTAGAAGGAGTAAGGGCAATGGTACAGGCCGAGGGCTGGTGGCTGGAAGCATCGAGGGTGAGCACAAGTGTGCATGTTTGTGTGTGAGCATGTGTCTACATACGTCTGCCCTCACAGAGCCCCCTAAGCCCTAAAGACCAGGC
CTCGGCCTCCTCCAGCTCAGCGTCCATGGGCCACAGAATTCACATAGGCAAGCCAAGGGCCACAGAGAGGAAAGAAGGAGAGAGGGAAAGAAGGAGGAAAGGGAAGAGGGGAAGGAGAAATGTGGGACAAAGAGGGAAAGGAAGGAAGGAAGGAGGGGAGGGAGGGAGAAAAGGAGGGAGGAAGGAAAAAAAGGGGGAAGGAAGAAGGAAAAGAGGAAAGGAAGAAAGGAAAGGAGGGAAGAAGGGGAAGAAGGGGAGGAAAATGGGAGGGAAGGCAGGAAAGAAGAAAGGACGAAAGGGAGGGAGGTGGGTAGGAAGGGAGGGAGGGAGAAAAGGAAGAAAAAAGAGGAGGGGAGGGAAGGAAGGAGAGAAGGAAAAAAGAGAGGGAGGAAGGGAAATAAGTCAGAAAGGAAGGCCGGCAAGAAGCCATTTATTCATGAGGCCCATGGGGTGGGGACAGAGCTGCTGTCACAGGTAAGCACAGCCTGAGAGGGGCCAGAGACGGCAACCACGTGGAGAGGTCCAAGGGTTTTTGCAGGAGTCTTGGTAAGGCTCCCCTCCTTCCCACGACTCCAGGCCGCTGGTGTCAGCATCACACATGGGAGATGAGACGTCCCTGCACAGCCTTCCCTGGGCTTCCTGAGAGCAAAGGCAGTGCAGATTACAGAGGAGGAGGGAGACGGAGGCAGCAGGATGTCAAGTGAGCACTGCAGCTGGTGGAGTGTGGGCAGGTGGCAGCAGCGGGTTCAGGAGGGAGTGGGTGCCTACCTGGGCACGAGGTTTAGCTGGACATGATGTGCTTCACAAATGCTGGAAAGAAGAGGAGAGTGAGTGGCAGGAGTGCAACATGGGGAAGCCATGGCTGGGAGCCTGGGTCCCAGCACTCCCCTCCCAGAAGACCCCTGCCCCTGCTGAGCCCACCTTCATAGTTGATGCAGCCATTGGAGTCCTCTTGCCCAGCCATCAACTTCTCCACTTCGTCTTCTGTCAGCCTCTCACCTGGCAGGAGTGGGAGGCTGAGTCAGCACCGTGCGTGCAGAGGCATGATGGGGTGGGGGCACCCACTGAATCCCTCTAGATGGTGGCTCAACCTCTCCAGTATTCCCACAACCAGCACTGTTCACAAGACCTTGGCCATCACCCCATTTCTGAGGCCAGGAGAATCAGTGACAAGTTAAGAAGGGGCCTGGGGTGCAGTACGTGCTGTCCTCTGTCCCACTAGGCTGGGAGGGGGTCCCTCCGCCAGGACGAAGCCAGGGCTCCCTAGAAGCAGTCCCTTGGGGCAGCCCCTTGAGGCTAGAGGAAGGGCCCATGGGGTGGAGTTGGGGATCTTGGGAGAGGGTGGTGGAGGGAGCCAAGAGACCACCCGCTGCTCCCCAAGTCTGGTATTCTCCTGCCTCCGTACTTCTGTGTGCTGTGCTGGCCCCCCTTCAAAATGCCAGCCGCAGCTCCCCCTTCTTACCCCCACCTTTAGACACACATGCACACACAGAGAGAGAGAGGAGAGAGAGACCAGCACGGAGCTGAAACAGTAGACACTCAAATGTTTGCTGCAGGAAAAAATCACTTTGAAGAGGGACCCCCTGCTGCAGGCAGCCGATGGTAGGGGTATAAGTGGGAGGTACACAGGGCTCCACAGAGGTCAGGATCCCCCCAGGCGGCAGGCACTTGACCTGCTTGACCACTTAGGGCTGTGGCCCTGGAATTTGACCTTGGAGTAATGACCACCAGGACGGTGGCCTGGAGTCGTGGGAAGGAGGGGAGCATATCAAGACGGCTCCTTCCTGCCCTGCTCTGTCCCCAGAGCTGATGTCATCCCCCTTCTGTGAGCTGCACCAGCATGCTTGCTTTACTCTCCTCCTAAGTAACATTTCTGTTGTCTGCCATTGAGGCTCCCTAATTATGTAACTCTCTCCATTTCACCAATGGGTCACAGGCCTGGGGGGCAACAGAGTGGTTTCTCCCAGGATGTCCCTGGAAGGAGTTGGGGTAGGGGAGGAGGCTGCCCTCACCCAGCGTGGCCAGCACGTGGCGAAGCTCAGCACCCACGACAGTGCCATTGCCCTCCTTGTCGAAGACCCGCAGCCCCTCCACGAAGTCCTCATAGGTGCCTGTGTCCTTGTTCTTGGAAATGTGCTGGAGCATAGGCAGGAAAGTTTCAAAGTCCATCATCTTGGTATTGAGCTCTGCAGAGAAATGGTCCCAGGTTCCAGGGTCTAAGGCTGGGGTGGGCACACCCCTCCCCCATGCCTGATAATGAGGAGCTATCCCCACCTCTCACACAGTTCTACAACAGTCTACACCAGTTCTCACAGCAGTCTACACCAGTTTGCCATTTAAAAGCAAACTACCATCGCGAGGCACTTTACAGTCTACTGAGCAATGCACTGTTTCCATAGCCCTTTGCTATTCACAAAGGGAGTTTGCTGCCCTGAGCCACCACGGAGGGCTCTGTCCAGAACCCCTTGCCTACTTTTGGGAAACAGTCCTCCCCTCGTGGCATTTTCTTATAGACCTCACCCTCCACCACCTGTGATTGGGTCAGGAGCAGCTAGGCCAATCAGAGACCTTCCCTGGGACTTTTGAACCCTTGGTGGGGGCTTGGGCCTCACTCCTTTTTTTTTTTTTAGCTTTAAAATTTTATTCATTTATGTATTTATTCATTCATTTATTTATTTTTAGACACGAGGTCTTCTTGTTACGTCACACAGACTGGAGTACAGTGGTGTGATTATAGCTCACTGCAACCTCAAATTCCTGGGCTCACGGGATCCTCCTGGCTCAGCTTCCTGAGTAGCTGGGACCATAGGTGCATGTCACCATGCCAAGCTAAATTTTTAATTTTTGTAGAGATAGAATCTCACTATGTTACCCAGGCTGGTCTCACTCCTGGCCTCAAGTGATCCTCCCAAAGCATTGGGATGACAGCATCCCACTGCCCACTGCTGTCACTGCCCGACCTTCTCACTTCTCCATAGGTGTCAGCGCCTACCACCAGGGGGCCTGGCAAATCAGCATGGATCCAGATGCTCCAGCAAACCATTACTGCATGTCACCTGGTCGGCATGGCCCTGTGACTGGCCTCGGTGCCCTCATCGGGACAATGCGAGATGTCAGGAAAGATTCTCGTGCTATCCCGCAGGATGGATGGCAGCCCACCCAGCCAGTCTCCCCGGTACTAACACTATGGGGGCTCTCGGGCAGGTGCACTACCTTCCTGTCTTGGCTTCCCCAGGACACGGAGCACTTCTGCCTGTGTGGGGTTCTGGCCCAGCGCCCGCAGGACATCCCCACACTGCCCGTAGGTGATCTTCATCTCACACTTGGGTGTGCGGTCGAACAGCATGAAGGCTTCCTTGAACTCTGCCAGGAGAGGGCAGTGAGCCACAGACACTCCCAGGGTCAGCCTACCCCACTCCCCACACCCCTGGCAGGACCCTCAGACCAGGGAACCCCAGCCCAATCCTGCAACCCCTGGGTTCAAGACCCCTGCTCACCTTCAATCTGCTCAGGTGTGAACTCAATCTGAAAAGAGACCCCAAAGACTCAGATGCCCGGCTTAAAAGGTGGGGCCACACCTCCTCCTGGGCACTCGGTGGCCAGCCCAGAATGTCAACTGTCTCAGCCTGTCCCATTCCAGCATCCCAGCCTGCACCCCCAGGACCTCCTGCAGTCCATCTTGACGCCCTCCTGCCTCCTTGCCCCCCTCCACCTCTCCAGCCAGAAGGCCTTGAGGCTGTGTGCACCGAGGCCCTGATGCTCGGTGGACCCTGGCAGGGGTAGCAGTGAGGAGGGAGGCCACATGCCCAAGGCCTCAGGCCAGCGTGGGCCTTACCTGATGCTCCCGGTTCTGGACAGATGTACCTTAAGCCACAAGCCCCAGTCAGGCTGGCTTTGCTTGGGGCCTGGTGGGCAGGACTGTCAGCAAAAGTGAGATGGGAGGGCCCAGGGTGGTAGAAGGAGTAAGGGCAATGGTACAGGCCGAGGGCTGGTGGCTGGAAGCATCGAGGGTGAGCACAAGTGTGCATGTTTGTGTGTGAGCATGTGTCTACATACGTCTGCCCTCACAGAGCCCCCTAAGCCCTAAAGACCAGGC
Task1_train_6707
Here’s a variant in MYL3 (myosin light chain 3) located on Chromosome 3. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Cardiovascular phenotype
CTCGGCCTCCTCCAGCTCAGCGTCCATGGGCCACAGAATTCACATAGGCAAGCCAAGGGCCACAGAGAGGAAAGAAGGAGAGAGGGAAAGAAGGAGGAAAGGGAAGAGGGGAAGGAGAAATGTGGGACAAAGAGGGAAAGGAAGGAAGGAAGGAGGGGAGGGAGGGAGAAAAGGAGGGAGGAAGGAAAAAAAGGGGGAAGGAAGAAGGAAAAGAGGAAAGGAAGAAAGGAAAGGAGGGAAGAAGGGGAAGAAGGGGAGGAAAATGGGAGGGAAGGCAGGAAAGAAGAAAGGACGAAAGGGAGGGAGGTGGGTAGGAAGGGAGGGAGGGAGAAAAGGAAGAAAAAAGAGGAGGGGAGGGAAGGAAGGAGAGAAGGAAAAAAGAGAGGGAGGAAGGGAAATAAGTCAGAAAGGAAGGCCGGCAAGAAGCCATTTATTCATGAGGCCCATGGGGTGGGGACAGAGCTGCTGTCACAGGTAAGCACAGCCTGAGAGGGGCCAGAGACGGCAACCACGTGGAGAGGTCCAAGGGTTTTTGCAGGAGTCTTGGTAAGGCTCCCCTCCTTCCCACGACTCCAGGCCGCTGGTGTCAGCATCACACATGGGAGATGAGACGTCCCTGCACAGCCTTCCCTGGGCTTCCTGAGAGCAAAGGCAGTGCAGATTACAGAGGAGGAGGGAGACGGAGGCAGCAGGATGTCAAGTGAGCACTGCAGCTGGTGGAGTGTGGGCAGGTGGCAGCAGCGGGTTCAGGAGGGAGTGGGTGCCTACCTGGGCACGAGGTTTAGCTGGACATGATGTGCTTCACAAATGCTGGAAAGAAGAGGAGAGTGAGTGGCAGGAGTGCAACATGGGGAAGCCATGGCTGGGAGCCTGGGTCCCAGCACTCCCCTCCCAGAAGACCCCTGCCCCTGCTGAGCCCACCTTCATAGTTGATGCAGCCATTGGAGTCCTCTTGCCCAGCCATCAACTTCTCCACTTCGTCTTCTGTCAGCCTCTCACCTGGCAGGAGTGGGAGGCTGAGTCAGCACCGTGCGTGCAGAGGCATGATGGGGTGGGGGCACCCACTGAATCCCTCTAGATGGTGGCTCAACCTCTCCAGTATTCCCACAACCAGCACTGTTCACAAGACCTTGGCCATCACCCCATTTCTGAGGCCAGGAGAATCAGTGACAAGTTAAGAAGGGGCCTGGGGTGCAGTACGTGCTGTCCTCTGTCCCACTAGGCTGGGAGGGGGTCCCTCCGCCAGGACGAAGCCAGGGCTCCCTAGAAGCAGTCCCTTGGGGCAGCCCCTTGAGGCTAGAGGAAGGGCCCATGGGGTGGAGTTGGGGATCTTGGGAGAGGGTGGTGGAGGGAGCCAAGAGACCACCCGCTGCTCCCCAAGTCTGGTATTCTCCTGCCTCCGTACTTCTGTGTGCTGTGCTGGCCCCCCTTCAAAATGCCAGCCGCAGCTCCCCCTTCTTACCCCCACCTTTAGACACACATGCACACACAGAGAGAGAGAGGAGAGAGAGACCAGCACGGAGCTGAAACAGTAGACACTCAAATGTTTGCTGCAGGAAAAAATCACTTTGAAGAGGGACCCCCTGCTGCAGGCAGCCGATGGTAGGGGTATAAGTGGGAGGTACACAGGGCTCCACAGAGGTCAGGATCCCCCCAGGCGGCAGGCACTTGACCTGCTTGACCACTTAGGGCTGTGGCCCTGGAATTTGACCTTGGAGTAATGACCACCAGGACGGTGGCCTGGAGTCGTGGGAAGGAGGGGAGCATATCAAGACGGCTCCTTCCTGCCCTGCTCTGTCCCCAGAGCTGATGTCATCCCCCTTCTGTGAGCTGCACCAGCATGCTTGCTTTACTCTCCTCCTAAGTAACATTTCTGTTGTCTGCCATTGAGGCTCCCTAATTATGTAACTCTCTCCATTTCACCAATGGGTCACAGGCCTGGGGGGCAACAGAGTGGTTTCTCCCAGGATGTCCCTGGAAGGAGTTGGGGTAGGGGAGGAGGCTGCCCTCACCCAGCGTGGCCAGCACGTGGCGAAGCTCAGCACCCATGACAGTGCCATTGCCCTCCTTGTCGAAGACCCGCAGCCCCTCCACGAAGTCCTCATAGGTGCCTGTGTCCTTGTTCTTGGAAATGTGCTGGAGCATAGGCAGGAAAGTTTCAAAGTCCATCATCTTGGTATTGAGCTCTGCAGAGAAATGGTCCCAGGTTCCAGGGTCTAAGGCTGGGGTGGGCACACCCCTCCCCCATGCCTGATAATGAGGAGCTATCCCCACCTCTCACACAGTTCTACAACAGTCTACACCAGTTCTCACAGCAGTCTACACCAGTTTGCCATTTAAAAGCAAACTACCATCGCGAGGCACTTTACAGTCTACTGAGCAATGCACTGTTTCCATAGCCCTTTGCTATTCACAAAGGGAGTTTGCTGCCCTGAGCCACCACGGAGGGCTCTGTCCAGAACCCCTTGCCTACTTTTGGGAAACAGTCCTCCCCTCGTGGCATTTTCTTATAGACCTCACCCTCCACCACCTGTGATTGGGTCAGGAGCAGCTAGGCCAATCAGAGACCTTCCCTGGGACTTTTGAACCCTTGGTGGGGGCTTGGGCCTCACTCCTTTTTTTTTTTTTAGCTTTAAAATTTTATTCATTTATGTATTTATTCATTCATTTATTTATTTTTAGACACGAGGTCTTCTTGTTACGTCACACAGACTGGAGTACAGTGGTGTGATTATAGCTCACTGCAACCTCAAATTCCTGGGCTCACGGGATCCTCCTGGCTCAGCTTCCTGAGTAGCTGGGACCATAGGTGCATGTCACCATGCCAAGCTAAATTTTTAATTTTTGTAGAGATAGAATCTCACTATGTTACCCAGGCTGGTCTCACTCCTGGCCTCAAGTGATCCTCCCAAAGCATTGGGATGACAGCATCCCACTGCCCACTGCTGTCACTGCCCGACCTTCTCACTTCTCCATAGGTGTCAGCGCCTACCACCAGGGGGCCTGGCAAATCAGCATGGATCCAGATGCTCCAGCAAACCATTACTGCATGTCACCTGGTCGGCATGGCCCTGTGACTGGCCTCGGTGCCCTCATCGGGACAATGCGAGATGTCAGGAAAGATTCTCGTGCTATCCCGCAGGATGGATGGCAGCCCACCCAGCCAGTCTCCCCGGTACTAACACTATGGGGGCTCTCGGGCAGGTGCACTACCTTCCTGTCTTGGCTTCCCCAGGACACGGAGCACTTCTGCCTGTGTGGGGTTCTGGCCCAGCGCCCGCAGGACATCCCCACACTGCCCGTAGGTGATCTTCATCTCACACTTGGGTGTGCGGTCGAACAGCATGAAGGCTTCCTTGAACTCTGCCAGGAGAGGGCAGTGAGCCACAGACACTCCCAGGGTCAGCCTACCCCACTCCCCACACCCCTGGCAGGACCCTCAGACCAGGGAACCCCAGCCCAATCCTGCAACCCCTGGGTTCAAGACCCCTGCTCACCTTCAATCTGCTCAGGTGTGAACTCAATCTGAAAAGAGACCCCAAAGACTCAGATGCCCGGCTTAAAAGGTGGGGCCACACCTCCTCCTGGGCACTCGGTGGCCAGCCCAGAATGTCAACTGTCTCAGCCTGTCCCATTCCAGCATCCCAGCCTGCACCCCCAGGACCTCCTGCAGTCCATCTTGACGCCCTCCTGCCTCCTTGCCCCCCTCCACCTCTCCAGCCAGAAGGCCTTGAGGCTGTGTGCACCGAGGCCCTGATGCTCGGTGGACCCTGGCAGGGGTAGCAGTGAGGAGGGAGGCCACATGCCCAAGGCCTCAGGCCAGCGTGGGCCTTACCTGATGCTCCCGGTTCTGGACAGATGTACCTTAAGCCACAAGCCCCAGTCAGGCTGGCTTTGCTTGGGGCCTGGTGGGCAGGACTGTCAGCAAAAGTGAGATGGGAGGGCCCAGGGTGGTAGAAGGAGTAAGGGCAATGGTACAGGCCGAGGGCTGGTGGCTGGAAGCATCGAGGGTGAGCACAAGTGTGCATGTTTGTGTGTGAGCATGTGTCTACATACGTCTGCCCTCACAGAGCCCCCTAAGCCCTAAAGACCAGGC
CTCGGCCTCCTCCAGCTCAGCGTCCATGGGCCACAGAATTCACATAGGCAAGCCAAGGGCCACAGAGAGGAAAGAAGGAGAGAGGGAAAGAAGGAGGAAAGGGAAGAGGGGAAGGAGAAATGTGGGACAAAGAGGGAAAGGAAGGAAGGAAGGAGGGGAGGGAGGGAGAAAAGGAGGGAGGAAGGAAAAAAAGGGGGAAGGAAGAAGGAAAAGAGGAAAGGAAGAAAGGAAAGGAGGGAAGAAGGGGAAGAAGGGGAGGAAAATGGGAGGGAAGGCAGGAAAGAAGAAAGGACGAAAGGGAGGGAGGTGGGTAGGAAGGGAGGGAGGGAGAAAAGGAAGAAAAAAGAGGAGGGGAGGGAAGGAAGGAGAGAAGGAAAAAAGAGAGGGAGGAAGGGAAATAAGTCAGAAAGGAAGGCCGGCAAGAAGCCATTTATTCATGAGGCCCATGGGGTGGGGACAGAGCTGCTGTCACAGGTAAGCACAGCCTGAGAGGGGCCAGAGACGGCAACCACGTGGAGAGGTCCAAGGGTTTTTGCAGGAGTCTTGGTAAGGCTCCCCTCCTTCCCACGACTCCAGGCCGCTGGTGTCAGCATCACACATGGGAGATGAGACGTCCCTGCACAGCCTTCCCTGGGCTTCCTGAGAGCAAAGGCAGTGCAGATTACAGAGGAGGAGGGAGACGGAGGCAGCAGGATGTCAAGTGAGCACTGCAGCTGGTGGAGTGTGGGCAGGTGGCAGCAGCGGGTTCAGGAGGGAGTGGGTGCCTACCTGGGCACGAGGTTTAGCTGGACATGATGTGCTTCACAAATGCTGGAAAGAAGAGGAGAGTGAGTGGCAGGAGTGCAACATGGGGAAGCCATGGCTGGGAGCCTGGGTCCCAGCACTCCCCTCCCAGAAGACCCCTGCCCCTGCTGAGCCCACCTTCATAGTTGATGCAGCCATTGGAGTCCTCTTGCCCAGCCATCAACTTCTCCACTTCGTCTTCTGTCAGCCTCTCACCTGGCAGGAGTGGGAGGCTGAGTCAGCACCGTGCGTGCAGAGGCATGATGGGGTGGGGGCACCCACTGAATCCCTCTAGATGGTGGCTCAACCTCTCCAGTATTCCCACAACCAGCACTGTTCACAAGACCTTGGCCATCACCCCATTTCTGAGGCCAGGAGAATCAGTGACAAGTTAAGAAGGGGCCTGGGGTGCAGTACGTGCTGTCCTCTGTCCCACTAGGCTGGGAGGGGGTCCCTCCGCCAGGACGAAGCCAGGGCTCCCTAGAAGCAGTCCCTTGGGGCAGCCCCTTGAGGCTAGAGGAAGGGCCCATGGGGTGGAGTTGGGGATCTTGGGAGAGGGTGGTGGAGGGAGCCAAGAGACCACCCGCTGCTCCCCAAGTCTGGTATTCTCCTGCCTCCGTACTTCTGTGTGCTGTGCTGGCCCCCCTTCAAAATGCCAGCCGCAGCTCCCCCTTCTTACCCCCACCTTTAGACACACATGCACACACAGAGAGAGAGAGGAGAGAGAGACCAGCACGGAGCTGAAACAGTAGACACTCAAATGTTTGCTGCAGGAAAAAATCACTTTGAAGAGGGACCCCCTGCTGCAGGCAGCCGATGGTAGGGGTATAAGTGGGAGGTACACAGGGCTCCACAGAGGTCAGGATCCCCCCAGGCGGCAGGCACTTGACCTGCTTGACCACTTAGGGCTGTGGCCCTGGAATTTGACCTTGGAGTAATGACCACCAGGACGGTGGCCTGGAGTCGTGGGAAGGAGGGGAGCATATCAAGACGGCTCCTTCCTGCCCTGCTCTGTCCCCAGAGCTGATGTCATCCCCCTTCTGTGAGCTGCACCAGCATGCTTGCTTTACTCTCCTCCTAAGTAACATTTCTGTTGTCTGCCATTGAGGCTCCCTAATTATGTAACTCTCTCCATTTCACCAATGGGTCACAGGCCTGGGGGGCAACAGAGTGGTTTCTCCCAGGATGTCCCTGGAAGGAGTTGGGGTAGGGGAGGAGGCTGCCCTCACCCAGCGTGGCCAGCACGTGGCGAAGCTCAGCACCCACGACAGTGCCATTGCCCTCCTTGTCGAAGACCCGCAGCCCCTCCACGAAGTCCTCATAGGTGCCTGTGTCCTTGTTCTTGGAAATGTGCTGGAGCATAGGCAGGAAAGTTTCAAAGTCCATCATCTTGGTATTGAGCTCTGCAGAGAAATGGTCCCAGGTTCCAGGGTCTAAGGCTGGGGTGGGCACACCCCTCCCCCATGCCTGATAATGAGGAGCTATCCCCACCTCTCACACAGTTCTACAACAGTCTACACCAGTTCTCACAGCAGTCTACACCAGTTTGCCATTTAAAAGCAAACTACCATCGCGAGGCACTTTACAGTCTACTGAGCAATGCACTGTTTCCATAGCCCTTTGCTATTCACAAAGGGAGTTTGCTGCCCTGAGCCACCACGGAGGGCTCTGTCCAGAACCCCTTGCCTACTTTTGGGAAACAGTCCTCCCCTCGTGGCATTTTCTTATAGACCTCACCCTCCACCACCTGTGATTGGGTCAGGAGCAGCTAGGCCAATCAGAGACCTTCCCTGGGACTTTTGAACCCTTGGTGGGGGCTTGGGCCTCACTCCTTTTTTTTTTTTTAGCTTTAAAATTTTATTCATTTATGTATTTATTCATTCATTTATTTATTTTTAGACACGAGGTCTTCTTGTTACGTCACACAGACTGGAGTACAGTGGTGTGATTATAGCTCACTGCAACCTCAAATTCCTGGGCTCACGGGATCCTCCTGGCTCAGCTTCCTGAGTAGCTGGGACCATAGGTGCATGTCACCATGCCAAGCTAAATTTTTAATTTTTGTAGAGATAGAATCTCACTATGTTACCCAGGCTGGTCTCACTCCTGGCCTCAAGTGATCCTCCCAAAGCATTGGGATGACAGCATCCCACTGCCCACTGCTGTCACTGCCCGACCTTCTCACTTCTCCATAGGTGTCAGCGCCTACCACCAGGGGGCCTGGCAAATCAGCATGGATCCAGATGCTCCAGCAAACCATTACTGCATGTCACCTGGTCGGCATGGCCCTGTGACTGGCCTCGGTGCCCTCATCGGGACAATGCGAGATGTCAGGAAAGATTCTCGTGCTATCCCGCAGGATGGATGGCAGCCCACCCAGCCAGTCTCCCCGGTACTAACACTATGGGGGCTCTCGGGCAGGTGCACTACCTTCCTGTCTTGGCTTCCCCAGGACACGGAGCACTTCTGCCTGTGTGGGGTTCTGGCCCAGCGCCCGCAGGACATCCCCACACTGCCCGTAGGTGATCTTCATCTCACACTTGGGTGTGCGGTCGAACAGCATGAAGGCTTCCTTGAACTCTGCCAGGAGAGGGCAGTGAGCCACAGACACTCCCAGGGTCAGCCTACCCCACTCCCCACACCCCTGGCAGGACCCTCAGACCAGGGAACCCCAGCCCAATCCTGCAACCCCTGGGTTCAAGACCCCTGCTCACCTTCAATCTGCTCAGGTGTGAACTCAATCTGAAAAGAGACCCCAAAGACTCAGATGCCCGGCTTAAAAGGTGGGGCCACACCTCCTCCTGGGCACTCGGTGGCCAGCCCAGAATGTCAACTGTCTCAGCCTGTCCCATTCCAGCATCCCAGCCTGCACCCCCAGGACCTCCTGCAGTCCATCTTGACGCCCTCCTGCCTCCTTGCCCCCCTCCACCTCTCCAGCCAGAAGGCCTTGAGGCTGTGTGCACCGAGGCCCTGATGCTCGGTGGACCCTGGCAGGGGTAGCAGTGAGGAGGGAGGCCACATGCCCAAGGCCTCAGGCCAGCGTGGGCCTTACCTGATGCTCCCGGTTCTGGACAGATGTACCTTAAGCCACAAGCCCCAGTCAGGCTGGCTTTGCTTGGGGCCTGGTGGGCAGGACTGTCAGCAAAAGTGAGATGGGAGGGCCCAGGGTGGTAGAAGGAGTAAGGGCAATGGTACAGGCCGAGGGCTGGTGGCTGGAAGCATCGAGGGTGAGCACAAGTGTGCATGTTTGTGTGTGAGCATGTGTCTACATACGTCTGCCCTCACAGAGCCCCCTAAGCCCTAAAGACCAGGC
Task1_train_6708
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?
Pathogenic; Metaphyseal chondrodysplasia, Jansen type
GCATCCAGCTGGCATGGGCTTGGATCCACCCACCCCCATTGCACTGTCCCTCTGATGTGAGCTCATGCTTCTTGGCTCTTATAGAAAGTAAAAGGCTGCAGCCACATCCCCAGGCAAGGGGCTGGGAGAAGACAGAGTGTAGTGGGAAGGAAGGGGAGCTAGATGGCTCAGGCCTCAGAAAGAGATGAACAGAGAACTCTCCAGCACCACACCAAGAGTGGACCCAGGGCTACGGTCCCACCCATGGAGAGAAAGAGAGATGACAGAGAACCCTGGGGGACAGAGAGGCAGGGAGAGATACACAAAGACAGACAGATAGTGACAGAGAAAGACGGGGAGAGGCATGGAGACAGAGATCAACAGAGGCAGGGAGAGACAGTCACAGAGATAGAGGGGACCAGGAGGCACACACTGAAGTCTGGGCTCAGTGTGTCAGAGGAGGTACATGGGGACACATAGTGGATAGGGCCACAGAAATAGAGAAGGAGAGGAGGGCAGTGGCAGAGGGTGGGGCCAGAGGCAGTGGGACAAGGAGGGGAGAAGAGAAGGGAGGGAAGCAGATGAGGAAAGGCAGACAGAGCCCAGGCTTTGGCCACAGGGCCGGTTTCAGCCGGCCGGGTGGGCAGCAGATTCCAGATGGGCCACATCTGGGAGGCTGTGGTCACCCTGTGGCTCCCTGGGGACCAGAGGGAATTGTGGGCCTGGCTGGGTGGGGCTGGGAATATGGCGCCCAGGACAGAGAGCCTTTCACCAAGCCAGGGCGGGTCCAGCCATCAAGGCAGCCTTCCAGGGTGGCTGGAGAGTCCTGTGGTTGGAGCCCTACAGAGGGAGAGAAGGGGGCTGCAAGCTGGGAGTGGAATGTGGAAGATACAGAGGCTGGGGACCCTCCAAGGTCACTTAGCCTCCCTGCAGTGAGGCTGGGGCTCCAAAGTGGGATGTCACCCTACTTTGAATCCCACCATTAGCACTTAGATTTGGGGAATCGATCTCCCCCAGCAGTGGCCGTGGGAGTCTCACAGCAGGTACTCAGGGCAGGCATTGAGTGGTGGTAGAAGCATGGGCCAATGTGGTTAATCCCAACTTCCCAATGAGGAAATGGAAATAGAAAGACTTGGGACACCTGCGTGAGGTCAGCAGCTCCTTGGAGTCCAGCTGGCACTAGAAACCAGACCTCCTGCCTCCTGTCCATGATCCCAGGGGAAGGGGCACACAGGGAGCCTCCCAGCTGAGGGAGAGTTAGTCTGGGTACTTGCCCTTCTTCAGAGACACCTGGAAGGTGGTTCCAAGAGCAGAGAGAAAGGCGAGAGGCCTGGCCTGGGGCTGAGCACTTGAAGAGGACAGGGCCCTGTGTTGTATGACCTCAGCAAGTTGCCTACCTCTCTTGGCCTCTGTCAGCCCATCTGGAAAATGGGGCCAGTGCCAGTACCTGTATCGCAGAGGCCATAGTAAATTCTATGAGGTGGGTACAGCCCACAGAAATACATTTTCTCCAGAGTGCTCCAAAGCCTGAATTTTCCTGCTTGGGGCACACCTGTCCCTGCAGGAACCAACAACCACTGATGGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCATTGCCCTCCAGCCTGAGCAACAAAAGCGAAACTCCGTCTCAAAAAAACAAAACAAAACAAAAACAAAAACAAACAAACCACAGATGTATTCATCCTTCTGGGTCACTAATCATGGCCTTGACTCTCCCTTGGTATCCCCTACCCTGTCTGTCTCTGGGCACAGGGCGCCCCTGTCTGCCGGAATGGGACCACATCCTGTGCTGGCCGCTGGGGGCACCAGGTGAGGTGGTGGCTGTGCCCTGTCCGGACTACATTTATGACTTCAATCACAAAGGTGAGGCCTGCTGGAAGGGGTGGGGATTACAAGGAGGCTGAGACTTGGAGCTAGGGGTTCAGTGCCTCGAGACCTCCCTGCCGGCCCTGACCTCCCATGGACCTGCAGGCCATGCCTACCGACGCTGTGACCGCAATGGCAGCTGGGAGCTGGTGCCTGGGCACAACAGGACGTGGGCCAACTACAGCGAGTGTGTCAAATTTCTCACCAATGAGACTCGTGAACGGGTGCGAGCCTTTCTCCTCCCCAACCTGACCAGGATAAATTCACTCCCACCCCACGGGTGACCCCTGACCCAGCCCTGACCCCTGACCTTGACTCCTCCAGCAACCTTACCCTGGCCTCTTGCTCTTACCCTGATGCTCTCCCTGGGTCCCAGGGCTCTGACTGTGTCTCCCCCCGCCCCGCACAGGAGGTGTTTGACCGCCTGGGCATGATTTACACCGTGGGCTACTCCGTGTCCCTGGCGTCCCTCACCGTAGCTGTGCTCATCCTGGCCTACTTTAGGTGGGCGGGGCGGGGCGAGAGGCGGCGGGACATGGTGGAGGGGGGGCGGTGGCCGAGGTCTGATGCGACCCCCTCCCTGCACCCATCACCCCCGGCGGGTGTCCCTACCTACGGCGCACAACCCAGCTTCCTGTCCACCCACCGCGCGTCCCCGTGCCCCCACCCACGGTCATGTCGCGCGCCCCGCAGGCGGCTGCACTGCACGCGCAACTACATCCACATGCACCTGTTCCTGTCCTTCATGCTGCGCGCCGTGAGCATCTTCGTCAAGGACGCTGTGCTCTACTCTGGCGCCACGCTTGATGAGGCTGAGCGCCTCACCGAGGAGGAGCTGCGCGCCATCGCCCAGGCGCCCCCGCCGCCTGCCACCGCCGCTGCCGGCTACGTGAGTACCCCTCTGCCCGCCCGCTCCCGGTGCCGCCACTGGCCTCGTGGGGCCCCGCCCCGCCCCGCTCCAGCCCGGCCCTCGCCCTGCCCGCCTCCTGCCAGCGCCACTGGCTTCAGCCACTCAAACCCGTCTTATAGGGTCCCTCGCAACCCTCAGCTCTGCCGCCGACCCTGCTGCCAAGGGCTCCGAGTGTCCCACACGCCCCGCGCTGCCATCAAGGCTCCTACCTCAACCCAGTACCCTCTAGCCACTCTACCTCTTCACTTTGCCTCCTGCCCCTGACACCGCATCCCCCTGAGAGAGCCCCCCAAACGAAGCCTGCCCCTTCCTGGCCTGTTTGGCCGGCACCACTTGTCCTCTCCTGCCGCCCCAGCCCCCCAGCCCAGCCCTGACTTCCCGGAGGCAGGCCCTGCCCTCTGACTAACACCAGCTGGTCTCTTAGGCGGGCTGCAGGGTGGCTGTGACCTTCTTCCTTTACTTCCTGGCCACCAACTACTACTGGATTCTGGTGGAGGGGCTGTACCTGCACAGCCTCATCTTCATGGCCTTCTTCTCAGAGAAGAAGTACCTGTGGGGCTTCACAGTCTTCGGCTGGGGTACGCGGGCACAGCGGGTAGCGAGGTGCCGGCAGGGGTGGGACCGTGGGTGACAGGGAGAGGGCAGCCCCTGGGGGGAGGCGCCCACACAGCACATCCCGCCCCAAGTGGAACAGCAGGAGAGAGGCCTGCCGCCCTTCTGTGATCCTGACCCTATTCCAGGCTCAGGAAACAGCAGGGCTTGGCCAGGGATCAGGTTCACCTGAGGTTAGATTCACCTGAATTGAGGCTCGGCCCAGGAGAGGGAAAGGAGGAACCATCAGGCCAAGATTCAGCTCAGGATCAGAGTAGGATACTGGGTCAGAGGTCAGCCTGGGGCTGGAATTGGGATCCGGGACCCTCCCTCTACCCTGAGCCCCATGGACTAGGCCAGCATCTATTACCCCACCAGTCCCCTTGCTGGGATGGGGCGCGGGGCTGCCCACACCATTGCCAGCCTCAGCAGGCCTGCGGGGTCCATGGCCCAGAGCCGTGGGCCCAGCACCTCAGCATCACCTGAGCTTCACAGCACCTCTGCAGAATGGGTT
GCATCCAGCTGGCATGGGCTTGGATCCACCCACCCCCATTGCACTGTCCCTCTGATGTGAGCTCATGCTTCTTGGCTCTTATAGAAAGTAAAAGGCTGCAGCCACATCCCCAGGCAAGGGGCTGGGAGAAGACAGAGTGTAGTGGGAAGGAAGGGGAGCTAGATGGCTCAGGCCTCAGAAAGAGATGAACAGAGAACTCTCCAGCACCACACCAAGAGTGGACCCAGGGCTACGGTCCCACCCATGGAGAGAAAGAGAGATGACAGAGAACCCTGGGGGACAGAGAGGCAGGGAGAGATACACAAAGACAGACAGATAGTGACAGAGAAAGACGGGGAGAGGCATGGAGACAGAGATCAACAGAGGCAGGGAGAGACAGTCACAGAGATAGAGGGGACCAGGAGGCACACACTGAAGTCTGGGCTCAGTGTGTCAGAGGAGGTACATGGGGACACATAGTGGATAGGGCCACAGAAATAGAGAAGGAGAGGAGGGCAGTGGCAGAGGGTGGGGCCAGAGGCAGTGGGACAAGGAGGGGAGAAGAGAAGGGAGGGAAGCAGATGAGGAAAGGCAGACAGAGCCCAGGCTTTGGCCACAGGGCCGGTTTCAGCCGGCCGGGTGGGCAGCAGATTCCAGATGGGCCACATCTGGGAGGCTGTGGTCACCCTGTGGCTCCCTGGGGACCAGAGGGAATTGTGGGCCTGGCTGGGTGGGGCTGGGAATATGGCGCCCAGGACAGAGAGCCTTTCACCAAGCCAGGGCGGGTCCAGCCATCAAGGCAGCCTTCCAGGGTGGCTGGAGAGTCCTGTGGTTGGAGCCCTACAGAGGGAGAGAAGGGGGCTGCAAGCTGGGAGTGGAATGTGGAAGATACAGAGGCTGGGGACCCTCCAAGGTCACTTAGCCTCCCTGCAGTGAGGCTGGGGCTCCAAAGTGGGATGTCACCCTACTTTGAATCCCACCATTAGCACTTAGATTTGGGGAATCGATCTCCCCCAGCAGTGGCCGTGGGAGTCTCACAGCAGGTACTCAGGGCAGGCATTGAGTGGTGGTAGAAGCATGGGCCAATGTGGTTAATCCCAACTTCCCAATGAGGAAATGGAAATAGAAAGACTTGGGACACCTGCGTGAGGTCAGCAGCTCCTTGGAGTCCAGCTGGCACTAGAAACCAGACCTCCTGCCTCCTGTCCATGATCCCAGGGGAAGGGGCACACAGGGAGCCTCCCAGCTGAGGGAGAGTTAGTCTGGGTACTTGCCCTTCTTCAGAGACACCTGGAAGGTGGTTCCAAGAGCAGAGAGAAAGGCGAGAGGCCTGGCCTGGGGCTGAGCACTTGAAGAGGACAGGGCCCTGTGTTGTATGACCTCAGCAAGTTGCCTACCTCTCTTGGCCTCTGTCAGCCCATCTGGAAAATGGGGCCAGTGCCAGTACCTGTATCGCAGAGGCCATAGTAAATTCTATGAGGTGGGTACAGCCCACAGAAATACATTTTCTCCAGAGTGCTCCAAAGCCTGAATTTTCCTGCTTGGGGCACACCTGTCCCTGCAGGAACCAACAACCACTGATGGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCATTGCCCTCCAGCCTGAGCAACAAAAGCGAAACTCCGTCTCAAAAAAACAAAACAAAACAAAAACAAAAACAAACAAACCACAGATGTATTCATCCTTCTGGGTCACTAATCATGGCCTTGACTCTCCCTTGGTATCCCCTACCCTGTCTGTCTCTGGGCACAGGGCGCCCCTGTCTGCCGGAATGGGACCACATCCTGTGCTGGCCGCTGGGGGCACCAGGTGAGGTGGTGGCTGTGCCCTGTCTGGACTACATTTATGACTTCAATCACAAAGGTGAGGCCTGCTGGAAGGGGTGGGGATTACAAGGAGGCTGAGACTTGGAGCTAGGGGTTCAGTGCCTCGAGACCTCCCTGCCGGCCCTGACCTCCCATGGACCTGCAGGCCATGCCTACCGACGCTGTGACCGCAATGGCAGCTGGGAGCTGGTGCCTGGGCACAACAGGACGTGGGCCAACTACAGCGAGTGTGTCAAATTTCTCACCAATGAGACTCGTGAACGGGTGCGAGCCTTTCTCCTCCCCAACCTGACCAGGATAAATTCACTCCCACCCCACGGGTGACCCCTGACCCAGCCCTGACCCCTGACCTTGACTCCTCCAGCAACCTTACCCTGGCCTCTTGCTCTTACCCTGATGCTCTCCCTGGGTCCCAGGGCTCTGACTGTGTCTCCCCCCGCCCCGCACAGGAGGTGTTTGACCGCCTGGGCATGATTTACACCGTGGGCTACTCCGTGTCCCTGGCGTCCCTCACCGTAGCTGTGCTCATCCTGGCCTACTTTAGGTGGGCGGGGCGGGGCGAGAGGCGGCGGGACATGGTGGAGGGGGGGCGGTGGCCGAGGTCTGATGCGACCCCCTCCCTGCACCCATCACCCCCGGCGGGTGTCCCTACCTACGGCGCACAACCCAGCTTCCTGTCCACCCACCGCGCGTCCCCGTGCCCCCACCCACGGTCATGTCGCGCGCCCCGCAGGCGGCTGCACTGCACGCGCAACTACATCCACATGCACCTGTTCCTGTCCTTCATGCTGCGCGCCGTGAGCATCTTCGTCAAGGACGCTGTGCTCTACTCTGGCGCCACGCTTGATGAGGCTGAGCGCCTCACCGAGGAGGAGCTGCGCGCCATCGCCCAGGCGCCCCCGCCGCCTGCCACCGCCGCTGCCGGCTACGTGAGTACCCCTCTGCCCGCCCGCTCCCGGTGCCGCCACTGGCCTCGTGGGGCCCCGCCCCGCCCCGCTCCAGCCCGGCCCTCGCCCTGCCCGCCTCCTGCCAGCGCCACTGGCTTCAGCCACTCAAACCCGTCTTATAGGGTCCCTCGCAACCCTCAGCTCTGCCGCCGACCCTGCTGCCAAGGGCTCCGAGTGTCCCACACGCCCCGCGCTGCCATCAAGGCTCCTACCTCAACCCAGTACCCTCTAGCCACTCTACCTCTTCACTTTGCCTCCTGCCCCTGACACCGCATCCCCCTGAGAGAGCCCCCCAAACGAAGCCTGCCCCTTCCTGGCCTGTTTGGCCGGCACCACTTGTCCTCTCCTGCCGCCCCAGCCCCCCAGCCCAGCCCTGACTTCCCGGAGGCAGGCCCTGCCCTCTGACTAACACCAGCTGGTCTCTTAGGCGGGCTGCAGGGTGGCTGTGACCTTCTTCCTTTACTTCCTGGCCACCAACTACTACTGGATTCTGGTGGAGGGGCTGTACCTGCACAGCCTCATCTTCATGGCCTTCTTCTCAGAGAAGAAGTACCTGTGGGGCTTCACAGTCTTCGGCTGGGGTACGCGGGCACAGCGGGTAGCGAGGTGCCGGCAGGGGTGGGACCGTGGGTGACAGGGAGAGGGCAGCCCCTGGGGGGAGGCGCCCACACAGCACATCCCGCCCCAAGTGGAACAGCAGGAGAGAGGCCTGCCGCCCTTCTGTGATCCTGACCCTATTCCAGGCTCAGGAAACAGCAGGGCTTGGCCAGGGATCAGGTTCACCTGAGGTTAGATTCACCTGAATTGAGGCTCGGCCCAGGAGAGGGAAAGGAGGAACCATCAGGCCAAGATTCAGCTCAGGATCAGAGTAGGATACTGGGTCAGAGGTCAGCCTGGGGCTGGAATTGGGATCCGGGACCCTCCCTCTACCCTGAGCCCCATGGACTAGGCCAGCATCTATTACCCCACCAGTCCCCTTGCTGGGATGGGGCGCGGGGCTGCCCACACCATTGCCAGCCTCAGCAGGCCTGCGGGGTCCATGGCCCAGAGCCGTGGGCCCAGCACCTCAGCATCACCTGAGCTTCACAGCACCTCTGCAGAATGGGTT
Task1_train_6709
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?
Pathogenic; Chondrodysplasia Blomstrand type
GCATCCAGCTGGCATGGGCTTGGATCCACCCACCCCCATTGCACTGTCCCTCTGATGTGAGCTCATGCTTCTTGGCTCTTATAGAAAGTAAAAGGCTGCAGCCACATCCCCAGGCAAGGGGCTGGGAGAAGACAGAGTGTAGTGGGAAGGAAGGGGAGCTAGATGGCTCAGGCCTCAGAAAGAGATGAACAGAGAACTCTCCAGCACCACACCAAGAGTGGACCCAGGGCTACGGTCCCACCCATGGAGAGAAAGAGAGATGACAGAGAACCCTGGGGGACAGAGAGGCAGGGAGAGATACACAAAGACAGACAGATAGTGACAGAGAAAGACGGGGAGAGGCATGGAGACAGAGATCAACAGAGGCAGGGAGAGACAGTCACAGAGATAGAGGGGACCAGGAGGCACACACTGAAGTCTGGGCTCAGTGTGTCAGAGGAGGTACATGGGGACACATAGTGGATAGGGCCACAGAAATAGAGAAGGAGAGGAGGGCAGTGGCAGAGGGTGGGGCCAGAGGCAGTGGGACAAGGAGGGGAGAAGAGAAGGGAGGGAAGCAGATGAGGAAAGGCAGACAGAGCCCAGGCTTTGGCCACAGGGCCGGTTTCAGCCGGCCGGGTGGGCAGCAGATTCCAGATGGGCCACATCTGGGAGGCTGTGGTCACCCTGTGGCTCCCTGGGGACCAGAGGGAATTGTGGGCCTGGCTGGGTGGGGCTGGGAATATGGCGCCCAGGACAGAGAGCCTTTCACCAAGCCAGGGCGGGTCCAGCCATCAAGGCAGCCTTCCAGGGTGGCTGGAGAGTCCTGTGGTTGGAGCCCTACAGAGGGAGAGAAGGGGGCTGCAAGCTGGGAGTGGAATGTGGAAGATACAGAGGCTGGGGACCCTCCAAGGTCACTTAGCCTCCCTGCAGTGAGGCTGGGGCTCCAAAGTGGGATGTCACCCTACTTTGAATCCCACCATTAGCACTTAGATTTGGGGAATCGATCTCCCCCAGCAGTGGCCGTGGGAGTCTCACAGCAGGTACTCAGGGCAGGCATTGAGTGGTGGTAGAAGCATGGGCCAATGTGGTTAATCCCAACTTCCCAATGAGGAAATGGAAATAGAAAGACTTGGGACACCTGCGTGAGGTCAGCAGCTCCTTGGAGTCCAGCTGGCACTAGAAACCAGACCTCCTGCCTCCTGTCCATGATCCCAGGGGAAGGGGCACACAGGGAGCCTCCCAGCTGAGGGAGAGTTAGTCTGGGTACTTGCCCTTCTTCAGAGACACCTGGAAGGTGGTTCCAAGAGCAGAGAGAAAGGCGAGAGGCCTGGCCTGGGGCTGAGCACTTGAAGAGGACAGGGCCCTGTGTTGTATGACCTCAGCAAGTTGCCTACCTCTCTTGGCCTCTGTCAGCCCATCTGGAAAATGGGGCCAGTGCCAGTACCTGTATCGCAGAGGCCATAGTAAATTCTATGAGGTGGGTACAGCCCACAGAAATACATTTTCTCCAGAGTGCTCCAAAGCCTGAATTTTCCTGCTTGGGGCACACCTGTCCCTGCAGGAACCAACAACCACTGATGGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCATTGCCCTCCAGCCTGAGCAACAAAAGCGAAACTCCGTCTCAAAAAAACAAAACAAAACAAAAACAAAAACAAACAAACCACAGATGTATTCATCCTTCTGGGTCACTAATCATGGCCTTGACTCTCCCTTGGTATCCCCTACCCTGTCTGTCTCTGGGCACAGGGCGCCCCTGTCTGCCGGAATGGGACCACATCCTGTGCTGGCCGCTGGGGGCACCAGGTGAGGTGGTGGCTGTGCCCTGTCCGGACTACATTTATGACTTCAATCACAAAGGTGAGGCCTGCTGGAAGGGGTGGGGATTACAAGGAGGCTGAGACTTGGAGCTAGGGGTTCAGTGCCTCGAGACCTCCCTGCCGGCCCTGACCTCCCATGGACCTGCAGGCCATGCCTACCGACGCTGTGACCGCAATGGCAGCTGGGAGCTGGTGCCTGGGCACAACAGGACGTGGGCCAACTACAGCGAGTGTGTCAAATTTCTCACCAATGAGACTCGTGAACGGGTGCGAGCCTTTCTCCTCCCCAACCTGACCAGGATAAATTCACTCCCACCCCACGGGTGACCCCTGACCCAGCCCTGACCCCTGACCTTGACTCCTCCAGCAACCTTACCCTGGCCTCTTGCTCTTACCCTGATGCTCTCCCTGGGTCCCAGGGCTCTGACTGTGTCTCCCCCCGCCCCGCACAGGAGGTGTTTGACCGCCTGGGCATGATTTACACCGTGGGCTACTCCGTGTCCCTGGCGTCCCTCACCGTAGCTGTGCTCATCCTGGCCTACTTTAGGTGGGCGGGGCGGGGCGAGAGGCGGCGGGACATGGTGGAGGGGGGGCGGTGGCCGAGGTCTGATGCGACCCCCTCCCTGCACCCATCACCCCCGGCGGGTGTCCCTACCTACGGCGCACAACCCAGCTTCCTGTCCACCCACCGCGCGTCCCCGTGCCCCCACCCACGGTCATGTCGCGCGCCCCGCAGGCGGCTGCACTGCACGCGCAACTACATCCACATGCACCTGTTCCTGTCCTTCATGCTGCGCGCCGTGAGCATCTTCGTCAAGGACGCTGTGCTCTACTCTGGCGCCACGCTTGATGAGGCTGAGCGCCTCACCGAGGAGGAGCTGCGCGCCATCGCCCAGGCGCCCCCGCCGCCTGCCACCGCCGCTGCCGGCTACGTGAGTACCCCTCTGCCCGCCCGCTCCCGGTGCCGCCACTGGCCTCGTGGGGCCCCGCCCCGCCCCGCTCCAGCCCGGCCCTCGCCCTGCCCGCCTCCTGCCAGCGCCACTGGCTTCAGCCACTCAAACCCGTCTTATAGGGTCCCTCGCAACCCTCAGCTCTGCCGCCGACCCTGCTGCCAAGGGCTCCGAGTGTCCCACACGCCCCGCGCTGCCATCAAGGCTCCTACCTCAACCCAGTACCCTCTAGCCACTCTACCTCTTCACTTTGCCTCCTGCCCCTGACACCGCATCCCCCTGAGAGAGCCCCCCAAACGAAGCCTGCCCCTTCCTGGCCTGTTTGGCCGGCACCACTTGTCCTCTCCTGCCGCCCCAGCCCCCCAGCCCAGCCCTGACTTCCCGGAGGCAGGCCCTGCCCTCTGACTAACACCAGCTGGTCTCTTAGGCGGGCTGCAGGGTGGCTGTGACCTTCTTCCTTTACTTCCTGGCCACCAACTACTACTGGATTCTGGTGGAGGGGCTGTACCTGCACAGCCTCATCTTCATGGCCTTCTTCTCAGAGAAGAAGTACCTGTGGGGCTTCACAGTCTTCGGCTGGGGTACGCGGGCACAGCGGGTAGCGAGGTGCCGGCAGGGGTGGGACCGTGGGTGACAGGGAGAGGGCAGCCCCTGGGGGGAGGCGCCCACACAGCACATCCCGCCCCAAGTGGAACAGCAGGAGAGAGGCCTGCCGCCCTTCTGTGATCCTGACCCTATTCCAGGCTCAGGAAACAGCAGGGCTTGGCCAGGGATCAGGTTCACCTGAGGTTAGATTCACCTGAATTGAGGCTCGGCCCAGGAGAGGGAAAGGAGGAACCATCAGGCCAAGATTCAGCTCAGGATCAGAGTAGGATACTGGGTCAGAGGTCAGCCTGGGGCTGGAATTGGGATCCGGGACCCTCCCTCTACCCTGAGCCCCATGGACTAGGCCAGCATCTATTACCCCACCAGTCCCCTTGCTGGGATGGGGCGCGGGGCTGCCCACACCATTGCCAGCCTCAGCAGGCCTGCGGGGTCCATGGCCCAGAGCCGTGGGCCCAGCACCTCAGCATCACCTGAGCTTCACAGCACCTCTGCAGAATGGGTT
GCATCCAGCTGGCATGGGCTTGGATCCACCCACCCCCATTGCACTGTCCCTCTGATGTGAGCTCATGCTTCTTGGCTCTTATAGAAAGTAAAAGGCTGCAGCCACATCCCCAGGCAAGGGGCTGGGAGAAGACAGAGTGTAGTGGGAAGGAAGGGGAGCTAGATGGCTCAGGCCTCAGAAAGAGATGAACAGAGAACTCTCCAGCACCACACCAAGAGTGGACCCAGGGCTACGGTCCCACCCATGGAGAGAAAGAGAGATGACAGAGAACCCTGGGGGACAGAGAGGCAGGGAGAGATACACAAAGACAGACAGATAGTGACAGAGAAAGACGGGGAGAGGCATGGAGACAGAGATCAACAGAGGCAGGGAGAGACAGTCACAGAGATAGAGGGGACCAGGAGGCACACACTGAAGTCTGGGCTCAGTGTGTCAGAGGAGGTACATGGGGACACATAGTGGATAGGGCCACAGAAATAGAGAAGGAGAGGAGGGCAGTGGCAGAGGGTGGGGCCAGAGGCAGTGGGACAAGGAGGGGAGAAGAGAAGGGAGGGAAGCAGATGAGGAAAGGCAGACAGAGCCCAGGCTTTGGCCACAGGGCCGGTTTCAGCCGGCCGGGTGGGCAGCAGATTCCAGATGGGCCACATCTGGGAGGCTGTGGTCACCCTGTGGCTCCCTGGGGACCAGAGGGAATTGTGGGCCTGGCTGGGTGGGGCTGGGAATATGGCGCCCAGGACAGAGAGCCTTTCACCAAGCCAGGGCGGGTCCAGCCATCAAGGCAGCCTTCCAGGGTGGCTGGAGAGTCCTGTGGTTGGAGCCCTACAGAGGGAGAGAAGGGGGCTGCAAGCTGGGAGTGGAATGTGGAAGATACAGAGGCTGGGGACCCTCCAAGGTCACTTAGCCTCCCTGCAGTGAGGCTGGGGCTCCAAAGTGGGATGTCACCCTACTTTGAATCCCACCATTAGCACTTAGATTTGGGGAATCGATCTCCCCCAGCAGTGGCCGTGGGAGTCTCACAGCAGGTACTCAGGGCAGGCATTGAGTGGTGGTAGAAGCATGGGCCAATGTGGTTAATCCCAACTTCCCAATGAGGAAATGGAAATAGAAAGACTTGGGACACCTGCGTGAGGTCAGCAGCTCCTTGGAGTCCAGCTGGCACTAGAAACCAGACCTCCTGCCTCCTGTCCATGATCCCAGGGGAAGGGGCACACAGGGAGCCTCCCAGCTGAGGGAGAGTTAGTCTGGGTACTTGCCCTTCTTCAGAGACACCTGGAAGGTGGTTCCAAGAGCAGAGAGAAAGGCGAGAGGCCTGGCCTGGGGCTGAGCACTTGAAGAGGACAGGGCCCTGTGTTGTATGACCTCAGCAAGTTGCCTACCTCTCTTGGCCTCTGTCAGCCCATCTGGAAAATGGGGCCAGTGCCAGTACCTGTATCGCAGAGGCCATAGTAAATTCTATGAGGTGGGTACAGCCCACAGAAATACATTTTCTCCAGAGTGCTCCAAAGCCTGAATTTTCCTGCTTGGGGCACACCTGTCCCTGCAGGAACCAACAACCACTGATGGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCATTGCCCTCCAGCCTGAGCAACAAAAGCGAAACTCCGTCTCAAAAAAACAAAACAAAACAAAAACAAAAACAAACAAACCACAGATGTATTCATCCTTCTGGGTCACTAATCATGGCCTTGACTCTCCCTTGGTATCCCCTACCCTGTCTGTCTCTGGGCACAGGGCGCCCCTGTCTGCCGGAATGGGACCACATCCTGTGCTGGCCGCTGGGGGCACCAGGTGAGGTGGTGGCTGTGCCCTGTCTGGACTACATTTATGACTTCAATCACAAAGGTGAGGCCTGCTGGAAGGGGTGGGGATTACAAGGAGGCTGAGACTTGGAGCTAGGGGTTCAGTGCCTCGAGACCTCCCTGCCGGCCCTGACCTCCCATGGACCTGCAGGCCATGCCTACCGACGCTGTGACCGCAATGGCAGCTGGGAGCTGGTGCCTGGGCACAACAGGACGTGGGCCAACTACAGCGAGTGTGTCAAATTTCTCACCAATGAGACTCGTGAACGGGTGCGAGCCTTTCTCCTCCCCAACCTGACCAGGATAAATTCACTCCCACCCCACGGGTGACCCCTGACCCAGCCCTGACCCCTGACCTTGACTCCTCCAGCAACCTTACCCTGGCCTCTTGCTCTTACCCTGATGCTCTCCCTGGGTCCCAGGGCTCTGACTGTGTCTCCCCCCGCCCCGCACAGGAGGTGTTTGACCGCCTGGGCATGATTTACACCGTGGGCTACTCCGTGTCCCTGGCGTCCCTCACCGTAGCTGTGCTCATCCTGGCCTACTTTAGGTGGGCGGGGCGGGGCGAGAGGCGGCGGGACATGGTGGAGGGGGGGCGGTGGCCGAGGTCTGATGCGACCCCCTCCCTGCACCCATCACCCCCGGCGGGTGTCCCTACCTACGGCGCACAACCCAGCTTCCTGTCCACCCACCGCGCGTCCCCGTGCCCCCACCCACGGTCATGTCGCGCGCCCCGCAGGCGGCTGCACTGCACGCGCAACTACATCCACATGCACCTGTTCCTGTCCTTCATGCTGCGCGCCGTGAGCATCTTCGTCAAGGACGCTGTGCTCTACTCTGGCGCCACGCTTGATGAGGCTGAGCGCCTCACCGAGGAGGAGCTGCGCGCCATCGCCCAGGCGCCCCCGCCGCCTGCCACCGCCGCTGCCGGCTACGTGAGTACCCCTCTGCCCGCCCGCTCCCGGTGCCGCCACTGGCCTCGTGGGGCCCCGCCCCGCCCCGCTCCAGCCCGGCCCTCGCCCTGCCCGCCTCCTGCCAGCGCCACTGGCTTCAGCCACTCAAACCCGTCTTATAGGGTCCCTCGCAACCCTCAGCTCTGCCGCCGACCCTGCTGCCAAGGGCTCCGAGTGTCCCACACGCCCCGCGCTGCCATCAAGGCTCCTACCTCAACCCAGTACCCTCTAGCCACTCTACCTCTTCACTTTGCCTCCTGCCCCTGACACCGCATCCCCCTGAGAGAGCCCCCCAAACGAAGCCTGCCCCTTCCTGGCCTGTTTGGCCGGCACCACTTGTCCTCTCCTGCCGCCCCAGCCCCCCAGCCCAGCCCTGACTTCCCGGAGGCAGGCCCTGCCCTCTGACTAACACCAGCTGGTCTCTTAGGCGGGCTGCAGGGTGGCTGTGACCTTCTTCCTTTACTTCCTGGCCACCAACTACTACTGGATTCTGGTGGAGGGGCTGTACCTGCACAGCCTCATCTTCATGGCCTTCTTCTCAGAGAAGAAGTACCTGTGGGGCTTCACAGTCTTCGGCTGGGGTACGCGGGCACAGCGGGTAGCGAGGTGCCGGCAGGGGTGGGACCGTGGGTGACAGGGAGAGGGCAGCCCCTGGGGGGAGGCGCCCACACAGCACATCCCGCCCCAAGTGGAACAGCAGGAGAGAGGCCTGCCGCCCTTCTGTGATCCTGACCCTATTCCAGGCTCAGGAAACAGCAGGGCTTGGCCAGGGATCAGGTTCACCTGAGGTTAGATTCACCTGAATTGAGGCTCGGCCCAGGAGAGGGAAAGGAGGAACCATCAGGCCAAGATTCAGCTCAGGATCAGAGTAGGATACTGGGTCAGAGGTCAGCCTGGGGCTGGAATTGGGATCCGGGACCCTCCCTCTACCCTGAGCCCCATGGACTAGGCCAGCATCTATTACCCCACCAGTCCCCTTGCTGGGATGGGGCGCGGGGCTGCCCACACCATTGCCAGCCTCAGCAGGCCTGCGGGGTCCATGGCCCAGAGCCGTGGGCCCAGCACCTCAGCATCACCTGAGCTTCACAGCACCTCTGCAGAATGGGTT
Task1_train_6710
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?
Pathogenic; Eiken syndrome
GCATCCAGCTGGCATGGGCTTGGATCCACCCACCCCCATTGCACTGTCCCTCTGATGTGAGCTCATGCTTCTTGGCTCTTATAGAAAGTAAAAGGCTGCAGCCACATCCCCAGGCAAGGGGCTGGGAGAAGACAGAGTGTAGTGGGAAGGAAGGGGAGCTAGATGGCTCAGGCCTCAGAAAGAGATGAACAGAGAACTCTCCAGCACCACACCAAGAGTGGACCCAGGGCTACGGTCCCACCCATGGAGAGAAAGAGAGATGACAGAGAACCCTGGGGGACAGAGAGGCAGGGAGAGATACACAAAGACAGACAGATAGTGACAGAGAAAGACGGGGAGAGGCATGGAGACAGAGATCAACAGAGGCAGGGAGAGACAGTCACAGAGATAGAGGGGACCAGGAGGCACACACTGAAGTCTGGGCTCAGTGTGTCAGAGGAGGTACATGGGGACACATAGTGGATAGGGCCACAGAAATAGAGAAGGAGAGGAGGGCAGTGGCAGAGGGTGGGGCCAGAGGCAGTGGGACAAGGAGGGGAGAAGAGAAGGGAGGGAAGCAGATGAGGAAAGGCAGACAGAGCCCAGGCTTTGGCCACAGGGCCGGTTTCAGCCGGCCGGGTGGGCAGCAGATTCCAGATGGGCCACATCTGGGAGGCTGTGGTCACCCTGTGGCTCCCTGGGGACCAGAGGGAATTGTGGGCCTGGCTGGGTGGGGCTGGGAATATGGCGCCCAGGACAGAGAGCCTTTCACCAAGCCAGGGCGGGTCCAGCCATCAAGGCAGCCTTCCAGGGTGGCTGGAGAGTCCTGTGGTTGGAGCCCTACAGAGGGAGAGAAGGGGGCTGCAAGCTGGGAGTGGAATGTGGAAGATACAGAGGCTGGGGACCCTCCAAGGTCACTTAGCCTCCCTGCAGTGAGGCTGGGGCTCCAAAGTGGGATGTCACCCTACTTTGAATCCCACCATTAGCACTTAGATTTGGGGAATCGATCTCCCCCAGCAGTGGCCGTGGGAGTCTCACAGCAGGTACTCAGGGCAGGCATTGAGTGGTGGTAGAAGCATGGGCCAATGTGGTTAATCCCAACTTCCCAATGAGGAAATGGAAATAGAAAGACTTGGGACACCTGCGTGAGGTCAGCAGCTCCTTGGAGTCCAGCTGGCACTAGAAACCAGACCTCCTGCCTCCTGTCCATGATCCCAGGGGAAGGGGCACACAGGGAGCCTCCCAGCTGAGGGAGAGTTAGTCTGGGTACTTGCCCTTCTTCAGAGACACCTGGAAGGTGGTTCCAAGAGCAGAGAGAAAGGCGAGAGGCCTGGCCTGGGGCTGAGCACTTGAAGAGGACAGGGCCCTGTGTTGTATGACCTCAGCAAGTTGCCTACCTCTCTTGGCCTCTGTCAGCCCATCTGGAAAATGGGGCCAGTGCCAGTACCTGTATCGCAGAGGCCATAGTAAATTCTATGAGGTGGGTACAGCCCACAGAAATACATTTTCTCCAGAGTGCTCCAAAGCCTGAATTTTCCTGCTTGGGGCACACCTGTCCCTGCAGGAACCAACAACCACTGATGGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCATTGCCCTCCAGCCTGAGCAACAAAAGCGAAACTCCGTCTCAAAAAAACAAAACAAAACAAAAACAAAAACAAACAAACCACAGATGTATTCATCCTTCTGGGTCACTAATCATGGCCTTGACTCTCCCTTGGTATCCCCTACCCTGTCTGTCTCTGGGCACAGGGCGCCCCTGTCTGCCGGAATGGGACCACATCCTGTGCTGGCCGCTGGGGGCACCAGGTGAGGTGGTGGCTGTGCCCTGTCCGGACTACATTTATGACTTCAATCACAAAGGTGAGGCCTGCTGGAAGGGGTGGGGATTACAAGGAGGCTGAGACTTGGAGCTAGGGGTTCAGTGCCTCGAGACCTCCCTGCCGGCCCTGACCTCCCATGGACCTGCAGGCCATGCCTACCGACGCTGTGACCGCAATGGCAGCTGGGAGCTGGTGCCTGGGCACAACAGGACGTGGGCCAACTACAGCGAGTGTGTCAAATTTCTCACCAATGAGACTCGTGAACGGGTGCGAGCCTTTCTCCTCCCCAACCTGACCAGGATAAATTCACTCCCACCCCACGGGTGACCCCTGACCCAGCCCTGACCCCTGACCTTGACTCCTCCAGCAACCTTACCCTGGCCTCTTGCTCTTACCCTGATGCTCTCCCTGGGTCCCAGGGCTCTGACTGTGTCTCCCCCCGCCCCGCACAGGAGGTGTTTGACCGCCTGGGCATGATTTACACCGTGGGCTACTCCGTGTCCCTGGCGTCCCTCACCGTAGCTGTGCTCATCCTGGCCTACTTTAGGTGGGCGGGGCGGGGCGAGAGGCGGCGGGACATGGTGGAGGGGGGGCGGTGGCCGAGGTCTGATGCGACCCCCTCCCTGCACCCATCACCCCCGGCGGGTGTCCCTACCTACGGCGCACAACCCAGCTTCCTGTCCACCCACCGCGCGTCCCCGTGCCCCCACCCACGGTCATGTCGCGCGCCCCGCAGGCGGCTGCACTGCACGCGCAACTACATCCACATGCACCTGTTCCTGTCCTTCATGCTGCGCGCCGTGAGCATCTTCGTCAAGGACGCTGTGCTCTACTCTGGCGCCACGCTTGATGAGGCTGAGCGCCTCACCGAGGAGGAGCTGCGCGCCATCGCCCAGGCGCCCCCGCCGCCTGCCACCGCCGCTGCCGGCTACGTGAGTACCCCTCTGCCCGCCCGCTCCCGGTGCCGCCACTGGCCTCGTGGGGCCCCGCCCCGCCCCGCTCCAGCCCGGCCCTCGCCCTGCCCGCCTCCTGCCAGCGCCACTGGCTTCAGCCACTCAAACCCGTCTTATAGGGTCCCTCGCAACCCTCAGCTCTGCCGCCGACCCTGCTGCCAAGGGCTCCGAGTGTCCCACACGCCCCGCGCTGCCATCAAGGCTCCTACCTCAACCCAGTACCCTCTAGCCACTCTACCTCTTCACTTTGCCTCCTGCCCCTGACACCGCATCCCCCTGAGAGAGCCCCCCAAACGAAGCCTGCCCCTTCCTGGCCTGTTTGGCCGGCACCACTTGTCCTCTCCTGCCGCCCCAGCCCCCCAGCCCAGCCCTGACTTCCCGGAGGCAGGCCCTGCCCTCTGACTAACACCAGCTGGTCTCTTAGGCGGGCTGCAGGGTGGCTGTGACCTTCTTCCTTTACTTCCTGGCCACCAACTACTACTGGATTCTGGTGGAGGGGCTGTACCTGCACAGCCTCATCTTCATGGCCTTCTTCTCAGAGAAGAAGTACCTGTGGGGCTTCACAGTCTTCGGCTGGGGTACGCGGGCACAGCGGGTAGCGAGGTGCCGGCAGGGGTGGGACCGTGGGTGACAGGGAGAGGGCAGCCCCTGGGGGGAGGCGCCCACACAGCACATCCCGCCCCAAGTGGAACAGCAGGAGAGAGGCCTGCCGCCCTTCTGTGATCCTGACCCTATTCCAGGCTCAGGAAACAGCAGGGCTTGGCCAGGGATCAGGTTCACCTGAGGTTAGATTCACCTGAATTGAGGCTCGGCCCAGGAGAGGGAAAGGAGGAACCATCAGGCCAAGATTCAGCTCAGGATCAGAGTAGGATACTGGGTCAGAGGTCAGCCTGGGGCTGGAATTGGGATCCGGGACCCTCCCTCTACCCTGAGCCCCATGGACTAGGCCAGCATCTATTACCCCACCAGTCCCCTTGCTGGGATGGGGCGCGGGGCTGCCCACACCATTGCCAGCCTCAGCAGGCCTGCGGGGTCCATGGCCCAGAGCCGTGGGCCCAGCACCTCAGCATCACCTGAGCTTCACAGCACCTCTGCAGAATGGGTT
GCATCCAGCTGGCATGGGCTTGGATCCACCCACCCCCATTGCACTGTCCCTCTGATGTGAGCTCATGCTTCTTGGCTCTTATAGAAAGTAAAAGGCTGCAGCCACATCCCCAGGCAAGGGGCTGGGAGAAGACAGAGTGTAGTGGGAAGGAAGGGGAGCTAGATGGCTCAGGCCTCAGAAAGAGATGAACAGAGAACTCTCCAGCACCACACCAAGAGTGGACCCAGGGCTACGGTCCCACCCATGGAGAGAAAGAGAGATGACAGAGAACCCTGGGGGACAGAGAGGCAGGGAGAGATACACAAAGACAGACAGATAGTGACAGAGAAAGACGGGGAGAGGCATGGAGACAGAGATCAACAGAGGCAGGGAGAGACAGTCACAGAGATAGAGGGGACCAGGAGGCACACACTGAAGTCTGGGCTCAGTGTGTCAGAGGAGGTACATGGGGACACATAGTGGATAGGGCCACAGAAATAGAGAAGGAGAGGAGGGCAGTGGCAGAGGGTGGGGCCAGAGGCAGTGGGACAAGGAGGGGAGAAGAGAAGGGAGGGAAGCAGATGAGGAAAGGCAGACAGAGCCCAGGCTTTGGCCACAGGGCCGGTTTCAGCCGGCCGGGTGGGCAGCAGATTCCAGATGGGCCACATCTGGGAGGCTGTGGTCACCCTGTGGCTCCCTGGGGACCAGAGGGAATTGTGGGCCTGGCTGGGTGGGGCTGGGAATATGGCGCCCAGGACAGAGAGCCTTTCACCAAGCCAGGGCGGGTCCAGCCATCAAGGCAGCCTTCCAGGGTGGCTGGAGAGTCCTGTGGTTGGAGCCCTACAGAGGGAGAGAAGGGGGCTGCAAGCTGGGAGTGGAATGTGGAAGATACAGAGGCTGGGGACCCTCCAAGGTCACTTAGCCTCCCTGCAGTGAGGCTGGGGCTCCAAAGTGGGATGTCACCCTACTTTGAATCCCACCATTAGCACTTAGATTTGGGGAATCGATCTCCCCCAGCAGTGGCCGTGGGAGTCTCACAGCAGGTACTCAGGGCAGGCATTGAGTGGTGGTAGAAGCATGGGCCAATGTGGTTAATCCCAACTTCCCAATGAGGAAATGGAAATAGAAAGACTTGGGACACCTGCGTGAGGTCAGCAGCTCCTTGGAGTCCAGCTGGCACTAGAAACCAGACCTCCTGCCTCCTGTCCATGATCCCAGGGGAAGGGGCACACAGGGAGCCTCCCAGCTGAGGGAGAGTTAGTCTGGGTACTTGCCCTTCTTCAGAGACACCTGGAAGGTGGTTCCAAGAGCAGAGAGAAAGGCGAGAGGCCTGGCCTGGGGCTGAGCACTTGAAGAGGACAGGGCCCTGTGTTGTATGACCTCAGCAAGTTGCCTACCTCTCTTGGCCTCTGTCAGCCCATCTGGAAAATGGGGCCAGTGCCAGTACCTGTATCGCAGAGGCCATAGTAAATTCTATGAGGTGGGTACAGCCCACAGAAATACATTTTCTCCAGAGTGCTCCAAAGCCTGAATTTTCCTGCTTGGGGCACACCTGTCCCTGCAGGAACCAACAACCACTGATGGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCATTGCCCTCCAGCCTGAGCAACAAAAGCGAAACTCCGTCTCAAAAAAACAAAACAAAACAAAAACAAAAACAAACAAACCACAGATGTATTCATCCTTCTGGGTCACTAATCATGGCCTTGACTCTCCCTTGGTATCCCCTACCCTGTCTGTCTCTGGGCACAGGGCGCCCCTGTCTGCCGGAATGGGACCACATCCTGTGCTGGCCGCTGGGGGCACCAGGTGAGGTGGTGGCTGTGCCCTGTCTGGACTACATTTATGACTTCAATCACAAAGGTGAGGCCTGCTGGAAGGGGTGGGGATTACAAGGAGGCTGAGACTTGGAGCTAGGGGTTCAGTGCCTCGAGACCTCCCTGCCGGCCCTGACCTCCCATGGACCTGCAGGCCATGCCTACCGACGCTGTGACCGCAATGGCAGCTGGGAGCTGGTGCCTGGGCACAACAGGACGTGGGCCAACTACAGCGAGTGTGTCAAATTTCTCACCAATGAGACTCGTGAACGGGTGCGAGCCTTTCTCCTCCCCAACCTGACCAGGATAAATTCACTCCCACCCCACGGGTGACCCCTGACCCAGCCCTGACCCCTGACCTTGACTCCTCCAGCAACCTTACCCTGGCCTCTTGCTCTTACCCTGATGCTCTCCCTGGGTCCCAGGGCTCTGACTGTGTCTCCCCCCGCCCCGCACAGGAGGTGTTTGACCGCCTGGGCATGATTTACACCGTGGGCTACTCCGTGTCCCTGGCGTCCCTCACCGTAGCTGTGCTCATCCTGGCCTACTTTAGGTGGGCGGGGCGGGGCGAGAGGCGGCGGGACATGGTGGAGGGGGGGCGGTGGCCGAGGTCTGATGCGACCCCCTCCCTGCACCCATCACCCCCGGCGGGTGTCCCTACCTACGGCGCACAACCCAGCTTCCTGTCCACCCACCGCGCGTCCCCGTGCCCCCACCCACGGTCATGTCGCGCGCCCCGCAGGCGGCTGCACTGCACGCGCAACTACATCCACATGCACCTGTTCCTGTCCTTCATGCTGCGCGCCGTGAGCATCTTCGTCAAGGACGCTGTGCTCTACTCTGGCGCCACGCTTGATGAGGCTGAGCGCCTCACCGAGGAGGAGCTGCGCGCCATCGCCCAGGCGCCCCCGCCGCCTGCCACCGCCGCTGCCGGCTACGTGAGTACCCCTCTGCCCGCCCGCTCCCGGTGCCGCCACTGGCCTCGTGGGGCCCCGCCCCGCCCCGCTCCAGCCCGGCCCTCGCCCTGCCCGCCTCCTGCCAGCGCCACTGGCTTCAGCCACTCAAACCCGTCTTATAGGGTCCCTCGCAACCCTCAGCTCTGCCGCCGACCCTGCTGCCAAGGGCTCCGAGTGTCCCACACGCCCCGCGCTGCCATCAAGGCTCCTACCTCAACCCAGTACCCTCTAGCCACTCTACCTCTTCACTTTGCCTCCTGCCCCTGACACCGCATCCCCCTGAGAGAGCCCCCCAAACGAAGCCTGCCCCTTCCTGGCCTGTTTGGCCGGCACCACTTGTCCTCTCCTGCCGCCCCAGCCCCCCAGCCCAGCCCTGACTTCCCGGAGGCAGGCCCTGCCCTCTGACTAACACCAGCTGGTCTCTTAGGCGGGCTGCAGGGTGGCTGTGACCTTCTTCCTTTACTTCCTGGCCACCAACTACTACTGGATTCTGGTGGAGGGGCTGTACCTGCACAGCCTCATCTTCATGGCCTTCTTCTCAGAGAAGAAGTACCTGTGGGGCTTCACAGTCTTCGGCTGGGGTACGCGGGCACAGCGGGTAGCGAGGTGCCGGCAGGGGTGGGACCGTGGGTGACAGGGAGAGGGCAGCCCCTGGGGGGAGGCGCCCACACAGCACATCCCGCCCCAAGTGGAACAGCAGGAGAGAGGCCTGCCGCCCTTCTGTGATCCTGACCCTATTCCAGGCTCAGGAAACAGCAGGGCTTGGCCAGGGATCAGGTTCACCTGAGGTTAGATTCACCTGAATTGAGGCTCGGCCCAGGAGAGGGAAAGGAGGAACCATCAGGCCAAGATTCAGCTCAGGATCAGAGTAGGATACTGGGTCAGAGGTCAGCCTGGGGCTGGAATTGGGATCCGGGACCCTCCCTCTACCCTGAGCCCCATGGACTAGGCCAGCATCTATTACCCCACCAGTCCCCTTGCTGGGATGGGGCGCGGGGCTGCCCACACCATTGCCAGCCTCAGCAGGCCTGCGGGGTCCATGGCCCAGAGCCGTGGGCCCAGCACCTCAGCATCACCTGAGCTTCACAGCACCTCTGCAGAATGGGTT
Task1_train_6711
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.
Pathogenic; Primary failure of tooth eruption
GCATCCAGCTGGCATGGGCTTGGATCCACCCACCCCCATTGCACTGTCCCTCTGATGTGAGCTCATGCTTCTTGGCTCTTATAGAAAGTAAAAGGCTGCAGCCACATCCCCAGGCAAGGGGCTGGGAGAAGACAGAGTGTAGTGGGAAGGAAGGGGAGCTAGATGGCTCAGGCCTCAGAAAGAGATGAACAGAGAACTCTCCAGCACCACACCAAGAGTGGACCCAGGGCTACGGTCCCACCCATGGAGAGAAAGAGAGATGACAGAGAACCCTGGGGGACAGAGAGGCAGGGAGAGATACACAAAGACAGACAGATAGTGACAGAGAAAGACGGGGAGAGGCATGGAGACAGAGATCAACAGAGGCAGGGAGAGACAGTCACAGAGATAGAGGGGACCAGGAGGCACACACTGAAGTCTGGGCTCAGTGTGTCAGAGGAGGTACATGGGGACACATAGTGGATAGGGCCACAGAAATAGAGAAGGAGAGGAGGGCAGTGGCAGAGGGTGGGGCCAGAGGCAGTGGGACAAGGAGGGGAGAAGAGAAGGGAGGGAAGCAGATGAGGAAAGGCAGACAGAGCCCAGGCTTTGGCCACAGGGCCGGTTTCAGCCGGCCGGGTGGGCAGCAGATTCCAGATGGGCCACATCTGGGAGGCTGTGGTCACCCTGTGGCTCCCTGGGGACCAGAGGGAATTGTGGGCCTGGCTGGGTGGGGCTGGGAATATGGCGCCCAGGACAGAGAGCCTTTCACCAAGCCAGGGCGGGTCCAGCCATCAAGGCAGCCTTCCAGGGTGGCTGGAGAGTCCTGTGGTTGGAGCCCTACAGAGGGAGAGAAGGGGGCTGCAAGCTGGGAGTGGAATGTGGAAGATACAGAGGCTGGGGACCCTCCAAGGTCACTTAGCCTCCCTGCAGTGAGGCTGGGGCTCCAAAGTGGGATGTCACCCTACTTTGAATCCCACCATTAGCACTTAGATTTGGGGAATCGATCTCCCCCAGCAGTGGCCGTGGGAGTCTCACAGCAGGTACTCAGGGCAGGCATTGAGTGGTGGTAGAAGCATGGGCCAATGTGGTTAATCCCAACTTCCCAATGAGGAAATGGAAATAGAAAGACTTGGGACACCTGCGTGAGGTCAGCAGCTCCTTGGAGTCCAGCTGGCACTAGAAACCAGACCTCCTGCCTCCTGTCCATGATCCCAGGGGAAGGGGCACACAGGGAGCCTCCCAGCTGAGGGAGAGTTAGTCTGGGTACTTGCCCTTCTTCAGAGACACCTGGAAGGTGGTTCCAAGAGCAGAGAGAAAGGCGAGAGGCCTGGCCTGGGGCTGAGCACTTGAAGAGGACAGGGCCCTGTGTTGTATGACCTCAGCAAGTTGCCTACCTCTCTTGGCCTCTGTCAGCCCATCTGGAAAATGGGGCCAGTGCCAGTACCTGTATCGCAGAGGCCATAGTAAATTCTATGAGGTGGGTACAGCCCACAGAAATACATTTTCTCCAGAGTGCTCCAAAGCCTGAATTTTCCTGCTTGGGGCACACCTGTCCCTGCAGGAACCAACAACCACTGATGGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCATTGCCCTCCAGCCTGAGCAACAAAAGCGAAACTCCGTCTCAAAAAAACAAAACAAAACAAAAACAAAAACAAACAAACCACAGATGTATTCATCCTTCTGGGTCACTAATCATGGCCTTGACTCTCCCTTGGTATCCCCTACCCTGTCTGTCTCTGGGCACAGGGCGCCCCTGTCTGCCGGAATGGGACCACATCCTGTGCTGGCCGCTGGGGGCACCAGGTGAGGTGGTGGCTGTGCCCTGTCCGGACTACATTTATGACTTCAATCACAAAGGTGAGGCCTGCTGGAAGGGGTGGGGATTACAAGGAGGCTGAGACTTGGAGCTAGGGGTTCAGTGCCTCGAGACCTCCCTGCCGGCCCTGACCTCCCATGGACCTGCAGGCCATGCCTACCGACGCTGTGACCGCAATGGCAGCTGGGAGCTGGTGCCTGGGCACAACAGGACGTGGGCCAACTACAGCGAGTGTGTCAAATTTCTCACCAATGAGACTCGTGAACGGGTGCGAGCCTTTCTCCTCCCCAACCTGACCAGGATAAATTCACTCCCACCCCACGGGTGACCCCTGACCCAGCCCTGACCCCTGACCTTGACTCCTCCAGCAACCTTACCCTGGCCTCTTGCTCTTACCCTGATGCTCTCCCTGGGTCCCAGGGCTCTGACTGTGTCTCCCCCCGCCCCGCACAGGAGGTGTTTGACCGCCTGGGCATGATTTACACCGTGGGCTACTCCGTGTCCCTGGCGTCCCTCACCGTAGCTGTGCTCATCCTGGCCTACTTTAGGTGGGCGGGGCGGGGCGAGAGGCGGCGGGACATGGTGGAGGGGGGGCGGTGGCCGAGGTCTGATGCGACCCCCTCCCTGCACCCATCACCCCCGGCGGGTGTCCCTACCTACGGCGCACAACCCAGCTTCCTGTCCACCCACCGCGCGTCCCCGTGCCCCCACCCACGGTCATGTCGCGCGCCCCGCAGGCGGCTGCACTGCACGCGCAACTACATCCACATGCACCTGTTCCTGTCCTTCATGCTGCGCGCCGTGAGCATCTTCGTCAAGGACGCTGTGCTCTACTCTGGCGCCACGCTTGATGAGGCTGAGCGCCTCACCGAGGAGGAGCTGCGCGCCATCGCCCAGGCGCCCCCGCCGCCTGCCACCGCCGCTGCCGGCTACGTGAGTACCCCTCTGCCCGCCCGCTCCCGGTGCCGCCACTGGCCTCGTGGGGCCCCGCCCCGCCCCGCTCCAGCCCGGCCCTCGCCCTGCCCGCCTCCTGCCAGCGCCACTGGCTTCAGCCACTCAAACCCGTCTTATAGGGTCCCTCGCAACCCTCAGCTCTGCCGCCGACCCTGCTGCCAAGGGCTCCGAGTGTCCCACACGCCCCGCGCTGCCATCAAGGCTCCTACCTCAACCCAGTACCCTCTAGCCACTCTACCTCTTCACTTTGCCTCCTGCCCCTGACACCGCATCCCCCTGAGAGAGCCCCCCAAACGAAGCCTGCCCCTTCCTGGCCTGTTTGGCCGGCACCACTTGTCCTCTCCTGCCGCCCCAGCCCCCCAGCCCAGCCCTGACTTCCCGGAGGCAGGCCCTGCCCTCTGACTAACACCAGCTGGTCTCTTAGGCGGGCTGCAGGGTGGCTGTGACCTTCTTCCTTTACTTCCTGGCCACCAACTACTACTGGATTCTGGTGGAGGGGCTGTACCTGCACAGCCTCATCTTCATGGCCTTCTTCTCAGAGAAGAAGTACCTGTGGGGCTTCACAGTCTTCGGCTGGGGTACGCGGGCACAGCGGGTAGCGAGGTGCCGGCAGGGGTGGGACCGTGGGTGACAGGGAGAGGGCAGCCCCTGGGGGGAGGCGCCCACACAGCACATCCCGCCCCAAGTGGAACAGCAGGAGAGAGGCCTGCCGCCCTTCTGTGATCCTGACCCTATTCCAGGCTCAGGAAACAGCAGGGCTTGGCCAGGGATCAGGTTCACCTGAGGTTAGATTCACCTGAATTGAGGCTCGGCCCAGGAGAGGGAAAGGAGGAACCATCAGGCCAAGATTCAGCTCAGGATCAGAGTAGGATACTGGGTCAGAGGTCAGCCTGGGGCTGGAATTGGGATCCGGGACCCTCCCTCTACCCTGAGCCCCATGGACTAGGCCAGCATCTATTACCCCACCAGTCCCCTTGCTGGGATGGGGCGCGGGGCTGCCCACACCATTGCCAGCCTCAGCAGGCCTGCGGGGTCCATGGCCCAGAGCCGTGGGCCCAGCACCTCAGCATCACCTGAGCTTCACAGCACCTCTGCAGAATGGGTT
GCATCCAGCTGGCATGGGCTTGGATCCACCCACCCCCATTGCACTGTCCCTCTGATGTGAGCTCATGCTTCTTGGCTCTTATAGAAAGTAAAAGGCTGCAGCCACATCCCCAGGCAAGGGGCTGGGAGAAGACAGAGTGTAGTGGGAAGGAAGGGGAGCTAGATGGCTCAGGCCTCAGAAAGAGATGAACAGAGAACTCTCCAGCACCACACCAAGAGTGGACCCAGGGCTACGGTCCCACCCATGGAGAGAAAGAGAGATGACAGAGAACCCTGGGGGACAGAGAGGCAGGGAGAGATACACAAAGACAGACAGATAGTGACAGAGAAAGACGGGGAGAGGCATGGAGACAGAGATCAACAGAGGCAGGGAGAGACAGTCACAGAGATAGAGGGGACCAGGAGGCACACACTGAAGTCTGGGCTCAGTGTGTCAGAGGAGGTACATGGGGACACATAGTGGATAGGGCCACAGAAATAGAGAAGGAGAGGAGGGCAGTGGCAGAGGGTGGGGCCAGAGGCAGTGGGACAAGGAGGGGAGAAGAGAAGGGAGGGAAGCAGATGAGGAAAGGCAGACAGAGCCCAGGCTTTGGCCACAGGGCCGGTTTCAGCCGGCCGGGTGGGCAGCAGATTCCAGATGGGCCACATCTGGGAGGCTGTGGTCACCCTGTGGCTCCCTGGGGACCAGAGGGAATTGTGGGCCTGGCTGGGTGGGGCTGGGAATATGGCGCCCAGGACAGAGAGCCTTTCACCAAGCCAGGGCGGGTCCAGCCATCAAGGCAGCCTTCCAGGGTGGCTGGAGAGTCCTGTGGTTGGAGCCCTACAGAGGGAGAGAAGGGGGCTGCAAGCTGGGAGTGGAATGTGGAAGATACAGAGGCTGGGGACCCTCCAAGGTCACTTAGCCTCCCTGCAGTGAGGCTGGGGCTCCAAAGTGGGATGTCACCCTACTTTGAATCCCACCATTAGCACTTAGATTTGGGGAATCGATCTCCCCCAGCAGTGGCCGTGGGAGTCTCACAGCAGGTACTCAGGGCAGGCATTGAGTGGTGGTAGAAGCATGGGCCAATGTGGTTAATCCCAACTTCCCAATGAGGAAATGGAAATAGAAAGACTTGGGACACCTGCGTGAGGTCAGCAGCTCCTTGGAGTCCAGCTGGCACTAGAAACCAGACCTCCTGCCTCCTGTCCATGATCCCAGGGGAAGGGGCACACAGGGAGCCTCCCAGCTGAGGGAGAGTTAGTCTGGGTACTTGCCCTTCTTCAGAGACACCTGGAAGGTGGTTCCAAGAGCAGAGAGAAAGGCGAGAGGCCTGGCCTGGGGCTGAGCACTTGAAGAGGACAGGGCCCTGTGTTGTATGACCTCAGCAAGTTGCCTACCTCTCTTGGCCTCTGTCAGCCCATCTGGAAAATGGGGCCAGTGCCAGTACCTGTATCGCAGAGGCCATAGTAAATTCTATGAGGTGGGTACAGCCCACAGAAATACATTTTCTCCAGAGTGCTCCAAAGCCTGAATTTTCCTGCTTGGGGCACACCTGTCCCTGCAGGAACCAACAACCACTGATGGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCATTGCCCTCCAGCCTGAGCAACAAAAGCGAAACTCCGTCTCAAAAAAACAAAACAAAACAAAAACAAAAACAAACAAACCACAGATGTATTCATCCTTCTGGGTCACTAATCATGGCCTTGACTCTCCCTTGGTATCCCCTACCCTGTCTGTCTCTGGGCACAGGGCGCCCCTGTCTGCCGGAATGGGACCACATCCTGTGCTGGCCGCTGGGGGCACCAGGTGAGGTGGTGGCTGTGCCCTGTCTGGACTACATTTATGACTTCAATCACAAAGGTGAGGCCTGCTGGAAGGGGTGGGGATTACAAGGAGGCTGAGACTTGGAGCTAGGGGTTCAGTGCCTCGAGACCTCCCTGCCGGCCCTGACCTCCCATGGACCTGCAGGCCATGCCTACCGACGCTGTGACCGCAATGGCAGCTGGGAGCTGGTGCCTGGGCACAACAGGACGTGGGCCAACTACAGCGAGTGTGTCAAATTTCTCACCAATGAGACTCGTGAACGGGTGCGAGCCTTTCTCCTCCCCAACCTGACCAGGATAAATTCACTCCCACCCCACGGGTGACCCCTGACCCAGCCCTGACCCCTGACCTTGACTCCTCCAGCAACCTTACCCTGGCCTCTTGCTCTTACCCTGATGCTCTCCCTGGGTCCCAGGGCTCTGACTGTGTCTCCCCCCGCCCCGCACAGGAGGTGTTTGACCGCCTGGGCATGATTTACACCGTGGGCTACTCCGTGTCCCTGGCGTCCCTCACCGTAGCTGTGCTCATCCTGGCCTACTTTAGGTGGGCGGGGCGGGGCGAGAGGCGGCGGGACATGGTGGAGGGGGGGCGGTGGCCGAGGTCTGATGCGACCCCCTCCCTGCACCCATCACCCCCGGCGGGTGTCCCTACCTACGGCGCACAACCCAGCTTCCTGTCCACCCACCGCGCGTCCCCGTGCCCCCACCCACGGTCATGTCGCGCGCCCCGCAGGCGGCTGCACTGCACGCGCAACTACATCCACATGCACCTGTTCCTGTCCTTCATGCTGCGCGCCGTGAGCATCTTCGTCAAGGACGCTGTGCTCTACTCTGGCGCCACGCTTGATGAGGCTGAGCGCCTCACCGAGGAGGAGCTGCGCGCCATCGCCCAGGCGCCCCCGCCGCCTGCCACCGCCGCTGCCGGCTACGTGAGTACCCCTCTGCCCGCCCGCTCCCGGTGCCGCCACTGGCCTCGTGGGGCCCCGCCCCGCCCCGCTCCAGCCCGGCCCTCGCCCTGCCCGCCTCCTGCCAGCGCCACTGGCTTCAGCCACTCAAACCCGTCTTATAGGGTCCCTCGCAACCCTCAGCTCTGCCGCCGACCCTGCTGCCAAGGGCTCCGAGTGTCCCACACGCCCCGCGCTGCCATCAAGGCTCCTACCTCAACCCAGTACCCTCTAGCCACTCTACCTCTTCACTTTGCCTCCTGCCCCTGACACCGCATCCCCCTGAGAGAGCCCCCCAAACGAAGCCTGCCCCTTCCTGGCCTGTTTGGCCGGCACCACTTGTCCTCTCCTGCCGCCCCAGCCCCCCAGCCCAGCCCTGACTTCCCGGAGGCAGGCCCTGCCCTCTGACTAACACCAGCTGGTCTCTTAGGCGGGCTGCAGGGTGGCTGTGACCTTCTTCCTTTACTTCCTGGCCACCAACTACTACTGGATTCTGGTGGAGGGGCTGTACCTGCACAGCCTCATCTTCATGGCCTTCTTCTCAGAGAAGAAGTACCTGTGGGGCTTCACAGTCTTCGGCTGGGGTACGCGGGCACAGCGGGTAGCGAGGTGCCGGCAGGGGTGGGACCGTGGGTGACAGGGAGAGGGCAGCCCCTGGGGGGAGGCGCCCACACAGCACATCCCGCCCCAAGTGGAACAGCAGGAGAGAGGCCTGCCGCCCTTCTGTGATCCTGACCCTATTCCAGGCTCAGGAAACAGCAGGGCTTGGCCAGGGATCAGGTTCACCTGAGGTTAGATTCACCTGAATTGAGGCTCGGCCCAGGAGAGGGAAAGGAGGAACCATCAGGCCAAGATTCAGCTCAGGATCAGAGTAGGATACTGGGTCAGAGGTCAGCCTGGGGCTGGAATTGGGATCCGGGACCCTCCCTCTACCCTGAGCCCCATGGACTAGGCCAGCATCTATTACCCCACCAGTCCCCTTGCTGGGATGGGGCGCGGGGCTGCCCACACCATTGCCAGCCTCAGCAGGCCTGCGGGGTCCATGGCCCAGAGCCGTGGGCCCAGCACCTCAGCATCACCTGAGCTTCACAGCACCTCTGCAGAATGGGTT
Task1_train_6712
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?
Pathogenic; Metaphyseal chondrodysplasia, Jansen type
GGGGCCAGAGGCAGTGGGACAAGGAGGGGAGAAGAGAAGGGAGGGAAGCAGATGAGGAAAGGCAGACAGAGCCCAGGCTTTGGCCACAGGGCCGGTTTCAGCCGGCCGGGTGGGCAGCAGATTCCAGATGGGCCACATCTGGGAGGCTGTGGTCACCCTGTGGCTCCCTGGGGACCAGAGGGAATTGTGGGCCTGGCTGGGTGGGGCTGGGAATATGGCGCCCAGGACAGAGAGCCTTTCACCAAGCCAGGGCGGGTCCAGCCATCAAGGCAGCCTTCCAGGGTGGCTGGAGAGTCCTGTGGTTGGAGCCCTACAGAGGGAGAGAAGGGGGCTGCAAGCTGGGAGTGGAATGTGGAAGATACAGAGGCTGGGGACCCTCCAAGGTCACTTAGCCTCCCTGCAGTGAGGCTGGGGCTCCAAAGTGGGATGTCACCCTACTTTGAATCCCACCATTAGCACTTAGATTTGGGGAATCGATCTCCCCCAGCAGTGGCCGTGGGAGTCTCACAGCAGGTACTCAGGGCAGGCATTGAGTGGTGGTAGAAGCATGGGCCAATGTGGTTAATCCCAACTTCCCAATGAGGAAATGGAAATAGAAAGACTTGGGACACCTGCGTGAGGTCAGCAGCTCCTTGGAGTCCAGCTGGCACTAGAAACCAGACCTCCTGCCTCCTGTCCATGATCCCAGGGGAAGGGGCACACAGGGAGCCTCCCAGCTGAGGGAGAGTTAGTCTGGGTACTTGCCCTTCTTCAGAGACACCTGGAAGGTGGTTCCAAGAGCAGAGAGAAAGGCGAGAGGCCTGGCCTGGGGCTGAGCACTTGAAGAGGACAGGGCCCTGTGTTGTATGACCTCAGCAAGTTGCCTACCTCTCTTGGCCTCTGTCAGCCCATCTGGAAAATGGGGCCAGTGCCAGTACCTGTATCGCAGAGGCCATAGTAAATTCTATGAGGTGGGTACAGCCCACAGAAATACATTTTCTCCAGAGTGCTCCAAAGCCTGAATTTTCCTGCTTGGGGCACACCTGTCCCTGCAGGAACCAACAACCACTGATGGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCATTGCCCTCCAGCCTGAGCAACAAAAGCGAAACTCCGTCTCAAAAAAACAAAACAAAACAAAAACAAAAACAAACAAACCACAGATGTATTCATCCTTCTGGGTCACTAATCATGGCCTTGACTCTCCCTTGGTATCCCCTACCCTGTCTGTCTCTGGGCACAGGGCGCCCCTGTCTGCCGGAATGGGACCACATCCTGTGCTGGCCGCTGGGGGCACCAGGTGAGGTGGTGGCTGTGCCCTGTCCGGACTACATTTATGACTTCAATCACAAAGGTGAGGCCTGCTGGAAGGGGTGGGGATTACAAGGAGGCTGAGACTTGGAGCTAGGGGTTCAGTGCCTCGAGACCTCCCTGCCGGCCCTGACCTCCCATGGACCTGCAGGCCATGCCTACCGACGCTGTGACCGCAATGGCAGCTGGGAGCTGGTGCCTGGGCACAACAGGACGTGGGCCAACTACAGCGAGTGTGTCAAATTTCTCACCAATGAGACTCGTGAACGGGTGCGAGCCTTTCTCCTCCCCAACCTGACCAGGATAAATTCACTCCCACCCCACGGGTGACCCCTGACCCAGCCCTGACCCCTGACCTTGACTCCTCCAGCAACCTTACCCTGGCCTCTTGCTCTTACCCTGATGCTCTCCCTGGGTCCCAGGGCTCTGACTGTGTCTCCCCCCGCCCCGCACAGGAGGTGTTTGACCGCCTGGGCATGATTTACACCGTGGGCTACTCCGTGTCCCTGGCGTCCCTCACCGTAGCTGTGCTCATCCTGGCCTACTTTAGGTGGGCGGGGCGGGGCGAGAGGCGGCGGGACATGGTGGAGGGGGGGCGGTGGCCGAGGTCTGATGCGACCCCCTCCCTGCACCCATCACCCCCGGCGGGTGTCCCTACCTACGGCGCACAACCCAGCTTCCTGTCCACCCACCGCGCGTCCCCGTGCCCCCACCCACGGTCATGTCGCGCGCCCCGCAGGCGGCTGCACTGCACGCGCAACTACATCCACATGCACCTGTTCCTGTCCTTCATGCTGCGCGCCGTGAGCATCTTCGTCAAGGACGCTGTGCTCTACTCTGGCGCCACGCTTGATGAGGCTGAGCGCCTCACCGAGGAGGAGCTGCGCGCCATCGCCCAGGCGCCCCCGCCGCCTGCCACCGCCGCTGCCGGCTACGTGAGTACCCCTCTGCCCGCCCGCTCCCGGTGCCGCCACTGGCCTCGTGGGGCCCCGCCCCGCCCCGCTCCAGCCCGGCCCTCGCCCTGCCCGCCTCCTGCCAGCGCCACTGGCTTCAGCCACTCAAACCCGTCTTATAGGGTCCCTCGCAACCCTCAGCTCTGCCGCCGACCCTGCTGCCAAGGGCTCCGAGTGTCCCACACGCCCCGCGCTGCCATCAAGGCTCCTACCTCAACCCAGTACCCTCTAGCCACTCTACCTCTTCACTTTGCCTCCTGCCCCTGACACCGCATCCCCCTGAGAGAGCCCCCCAAACGAAGCCTGCCCCTTCCTGGCCTGTTTGGCCGGCACCACTTGTCCTCTCCTGCCGCCCCAGCCCCCCAGCCCAGCCCTGACTTCCCGGAGGCAGGCCCTGCCCTCTGACTAACACCAGCTGGTCTCTTAGGCGGGCTGCAGGGTGGCTGTGACCTTCTTCCTTTACTTCCTGGCCACCAACTACTACTGGATTCTGGTGGAGGGGCTGTACCTGCACAGCCTCATCTTCATGGCCTTCTTCTCAGAGAAGAAGTACCTGTGGGGCTTCACAGTCTTCGGCTGGGGTACGCGGGCACAGCGGGTAGCGAGGTGCCGGCAGGGGTGGGACCGTGGGTGACAGGGAGAGGGCAGCCCCTGGGGGGAGGCGCCCACACAGCACATCCCGCCCCAAGTGGAACAGCAGGAGAGAGGCCTGCCGCCCTTCTGTGATCCTGACCCTATTCCAGGCTCAGGAAACAGCAGGGCTTGGCCAGGGATCAGGTTCACCTGAGGTTAGATTCACCTGAATTGAGGCTCGGCCCAGGAGAGGGAAAGGAGGAACCATCAGGCCAAGATTCAGCTCAGGATCAGAGTAGGATACTGGGTCAGAGGTCAGCCTGGGGCTGGAATTGGGATCCGGGACCCTCCCTCTACCCTGAGCCCCATGGACTAGGCCAGCATCTATTACCCCACCAGTCCCCTTGCTGGGATGGGGCGCGGGGCTGCCCACACCATTGCCAGCCTCAGCAGGCCTGCGGGGTCCATGGCCCAGAGCCGTGGGCCCAGCACCTCAGCATCACCTGAGCTTCACAGCACCTCTGCAGAATGGGTTGCTGGAGCTGCGCACTCCTCCCAGCCCCCCACAGGCTCTGGGATCCAGTTACCGATAATTGTCCATTATTGTTGGCAGCTGCAGAGCTTGGCTGGGCTCCGGGACAACTGGCCAGACTGCAGAGGGGTGGGCCGGGTGGCTGGAGCCCTCTCTGCACTCAGCACCCAGAGGCCCACAGGTCAACAGCCACCGCCTCCCTGCCCCTCGACATACATCCTGACCCTGACCTCACCATGACAAGCCCCAGAGTTGGGGAGACCTGGGCCCAGTCCCAGGAACAGATGCAGGCTCTGGGGCTAGGAGGTGTCCTAGTGGACTGGCGACATGCAGATTGGGAGTGCATAGAATCCTGGGGCACAGGAATGTCACAGCTCTTTTTCTTACCGTAAAGCCAGGTCATACCCTATCCCTCCAAGGGTGTACCAGGCCTAGAGTCAAGTTGGTGGTATGTGGTCGGGGAGGACCTGGGGCTCCCTTCCCAGAGGCACAGCTCACCCAAATATACCATG
GGGGCCAGAGGCAGTGGGACAAGGAGGGGAGAAGAGAAGGGAGGGAAGCAGATGAGGAAAGGCAGACAGAGCCCAGGCTTTGGCCACAGGGCCGGTTTCAGCCGGCCGGGTGGGCAGCAGATTCCAGATGGGCCACATCTGGGAGGCTGTGGTCACCCTGTGGCTCCCTGGGGACCAGAGGGAATTGTGGGCCTGGCTGGGTGGGGCTGGGAATATGGCGCCCAGGACAGAGAGCCTTTCACCAAGCCAGGGCGGGTCCAGCCATCAAGGCAGCCTTCCAGGGTGGCTGGAGAGTCCTGTGGTTGGAGCCCTACAGAGGGAGAGAAGGGGGCTGCAAGCTGGGAGTGGAATGTGGAAGATACAGAGGCTGGGGACCCTCCAAGGTCACTTAGCCTCCCTGCAGTGAGGCTGGGGCTCCAAAGTGGGATGTCACCCTACTTTGAATCCCACCATTAGCACTTAGATTTGGGGAATCGATCTCCCCCAGCAGTGGCCGTGGGAGTCTCACAGCAGGTACTCAGGGCAGGCATTGAGTGGTGGTAGAAGCATGGGCCAATGTGGTTAATCCCAACTTCCCAATGAGGAAATGGAAATAGAAAGACTTGGGACACCTGCGTGAGGTCAGCAGCTCCTTGGAGTCCAGCTGGCACTAGAAACCAGACCTCCTGCCTCCTGTCCATGATCCCAGGGGAAGGGGCACACAGGGAGCCTCCCAGCTGAGGGAGAGTTAGTCTGGGTACTTGCCCTTCTTCAGAGACACCTGGAAGGTGGTTCCAAGAGCAGAGAGAAAGGCGAGAGGCCTGGCCTGGGGCTGAGCACTTGAAGAGGACAGGGCCCTGTGTTGTATGACCTCAGCAAGTTGCCTACCTCTCTTGGCCTCTGTCAGCCCATCTGGAAAATGGGGCCAGTGCCAGTACCTGTATCGCAGAGGCCATAGTAAATTCTATGAGGTGGGTACAGCCCACAGAAATACATTTTCTCCAGAGTGCTCCAAAGCCTGAATTTTCCTGCTTGGGGCACACCTGTCCCTGCAGGAACCAACAACCACTGATGGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCATTGCCCTCCAGCCTGAGCAACAAAAGCGAAACTCCGTCTCAAAAAAACAAAACAAAACAAAAACAAAAACAAACAAACCACAGATGTATTCATCCTTCTGGGTCACTAATCATGGCCTTGACTCTCCCTTGGTATCCCCTACCCTGTCTGTCTCTGGGCACAGGGCGCCCCTGTCTGCCGGAATGGGACCACATCCTGTGCTGGCCGCTGGGGGCACCAGGTGAGGTGGTGGCTGTGCCCTGTCCGGACTACATTTATGACTTCAATCACAAAGGTGAGGCCTGCTGGAAGGGGTGGGGATTACAAGGAGGCTGAGACTTGGAGCTAGGGGTTCAGTGCCTCGAGACCTCCCTGCCGGCCCTGACCTCCCATGGACCTGCAGGCCATGCCTACCGACGCTGTGACCGCAATGGCAGCTGGGAGCTGGTGCCTGGGCACAACAGGACGTGGGCCAACTACAGCGAGTGTGTCAAATTTCTCACCAATGAGACTCGTGAACGGGTGCGAGCCTTTCTCCTCCCCAACCTGACCAGGATAAATTCACTCCCACCCCACGGGTGACCCCTGACCCAGCCCTGACCCCTGACCTTGACTCCTCCAGCAACCTTACCCTGGCCTCTTGCTCTTACCCTGATGCTCTCCCTGGGTCCCAGGGCTCTGACTGTGTCTCCCCCCGCCCCGCACAGGAGGTGTTTGACCGCCTGGGCATGATTTACACCGTGGGCTACTCCGTGTCCCTGGCGTCCCTCACCGAAGCTGTGCTCATCCTGGCCTACTTTAGGTGGGCGGGGCGGGGCGAGAGGCGGCGGGACATGGTGGAGGGGGGGCGGTGGCCGAGGTCTGATGCGACCCCCTCCCTGCACCCATCACCCCCGGCGGGTGTCCCTACCTACGGCGCACAACCCAGCTTCCTGTCCACCCACCGCGCGTCCCCGTGCCCCCACCCACGGTCATGTCGCGCGCCCCGCAGGCGGCTGCACTGCACGCGCAACTACATCCACATGCACCTGTTCCTGTCCTTCATGCTGCGCGCCGTGAGCATCTTCGTCAAGGACGCTGTGCTCTACTCTGGCGCCACGCTTGATGAGGCTGAGCGCCTCACCGAGGAGGAGCTGCGCGCCATCGCCCAGGCGCCCCCGCCGCCTGCCACCGCCGCTGCCGGCTACGTGAGTACCCCTCTGCCCGCCCGCTCCCGGTGCCGCCACTGGCCTCGTGGGGCCCCGCCCCGCCCCGCTCCAGCCCGGCCCTCGCCCTGCCCGCCTCCTGCCAGCGCCACTGGCTTCAGCCACTCAAACCCGTCTTATAGGGTCCCTCGCAACCCTCAGCTCTGCCGCCGACCCTGCTGCCAAGGGCTCCGAGTGTCCCACACGCCCCGCGCTGCCATCAAGGCTCCTACCTCAACCCAGTACCCTCTAGCCACTCTACCTCTTCACTTTGCCTCCTGCCCCTGACACCGCATCCCCCTGAGAGAGCCCCCCAAACGAAGCCTGCCCCTTCCTGGCCTGTTTGGCCGGCACCACTTGTCCTCTCCTGCCGCCCCAGCCCCCCAGCCCAGCCCTGACTTCCCGGAGGCAGGCCCTGCCCTCTGACTAACACCAGCTGGTCTCTTAGGCGGGCTGCAGGGTGGCTGTGACCTTCTTCCTTTACTTCCTGGCCACCAACTACTACTGGATTCTGGTGGAGGGGCTGTACCTGCACAGCCTCATCTTCATGGCCTTCTTCTCAGAGAAGAAGTACCTGTGGGGCTTCACAGTCTTCGGCTGGGGTACGCGGGCACAGCGGGTAGCGAGGTGCCGGCAGGGGTGGGACCGTGGGTGACAGGGAGAGGGCAGCCCCTGGGGGGAGGCGCCCACACAGCACATCCCGCCCCAAGTGGAACAGCAGGAGAGAGGCCTGCCGCCCTTCTGTGATCCTGACCCTATTCCAGGCTCAGGAAACAGCAGGGCTTGGCCAGGGATCAGGTTCACCTGAGGTTAGATTCACCTGAATTGAGGCTCGGCCCAGGAGAGGGAAAGGAGGAACCATCAGGCCAAGATTCAGCTCAGGATCAGAGTAGGATACTGGGTCAGAGGTCAGCCTGGGGCTGGAATTGGGATCCGGGACCCTCCCTCTACCCTGAGCCCCATGGACTAGGCCAGCATCTATTACCCCACCAGTCCCCTTGCTGGGATGGGGCGCGGGGCTGCCCACACCATTGCCAGCCTCAGCAGGCCTGCGGGGTCCATGGCCCAGAGCCGTGGGCCCAGCACCTCAGCATCACCTGAGCTTCACAGCACCTCTGCAGAATGGGTTGCTGGAGCTGCGCACTCCTCCCAGCCCCCCACAGGCTCTGGGATCCAGTTACCGATAATTGTCCATTATTGTTGGCAGCTGCAGAGCTTGGCTGGGCTCCGGGACAACTGGCCAGACTGCAGAGGGGTGGGCCGGGTGGCTGGAGCCCTCTCTGCACTCAGCACCCAGAGGCCCACAGGTCAACAGCCACCGCCTCCCTGCCCCTCGACATACATCCTGACCCTGACCTCACCATGACAAGCCCCAGAGTTGGGGAGACCTGGGCCCAGTCCCAGGAACAGATGCAGGCTCTGGGGCTAGGAGGTGTCCTAGTGGACTGGCGACATGCAGATTGGGAGTGCATAGAATCCTGGGGCACAGGAATGTCACAGCTCTTTTTCTTACCGTAAAGCCAGGTCATACCCTATCCCTCCAAGGGTGTACCAGGCCTAGAGTCAAGTTGGTGGTATGTGGTCGGGGAGGACCTGGGGCTCCCTTCCCAGAGGCACAGCTCACCCAAATATACCATG
Task1_train_6713
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?
Pathogenic; Primary failure of tooth eruption
CCAGGGCGGGTCCAGCCATCAAGGCAGCCTTCCAGGGTGGCTGGAGAGTCCTGTGGTTGGAGCCCTACAGAGGGAGAGAAGGGGGCTGCAAGCTGGGAGTGGAATGTGGAAGATACAGAGGCTGGGGACCCTCCAAGGTCACTTAGCCTCCCTGCAGTGAGGCTGGGGCTCCAAAGTGGGATGTCACCCTACTTTGAATCCCACCATTAGCACTTAGATTTGGGGAATCGATCTCCCCCAGCAGTGGCCGTGGGAGTCTCACAGCAGGTACTCAGGGCAGGCATTGAGTGGTGGTAGAAGCATGGGCCAATGTGGTTAATCCCAACTTCCCAATGAGGAAATGGAAATAGAAAGACTTGGGACACCTGCGTGAGGTCAGCAGCTCCTTGGAGTCCAGCTGGCACTAGAAACCAGACCTCCTGCCTCCTGTCCATGATCCCAGGGGAAGGGGCACACAGGGAGCCTCCCAGCTGAGGGAGAGTTAGTCTGGGTACTTGCCCTTCTTCAGAGACACCTGGAAGGTGGTTCCAAGAGCAGAGAGAAAGGCGAGAGGCCTGGCCTGGGGCTGAGCACTTGAAGAGGACAGGGCCCTGTGTTGTATGACCTCAGCAAGTTGCCTACCTCTCTTGGCCTCTGTCAGCCCATCTGGAAAATGGGGCCAGTGCCAGTACCTGTATCGCAGAGGCCATAGTAAATTCTATGAGGTGGGTACAGCCCACAGAAATACATTTTCTCCAGAGTGCTCCAAAGCCTGAATTTTCCTGCTTGGGGCACACCTGTCCCTGCAGGAACCAACAACCACTGATGGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCATTGCCCTCCAGCCTGAGCAACAAAAGCGAAACTCCGTCTCAAAAAAACAAAACAAAACAAAAACAAAAACAAACAAACCACAGATGTATTCATCCTTCTGGGTCACTAATCATGGCCTTGACTCTCCCTTGGTATCCCCTACCCTGTCTGTCTCTGGGCACAGGGCGCCCCTGTCTGCCGGAATGGGACCACATCCTGTGCTGGCCGCTGGGGGCACCAGGTGAGGTGGTGGCTGTGCCCTGTCCGGACTACATTTATGACTTCAATCACAAAGGTGAGGCCTGCTGGAAGGGGTGGGGATTACAAGGAGGCTGAGACTTGGAGCTAGGGGTTCAGTGCCTCGAGACCTCCCTGCCGGCCCTGACCTCCCATGGACCTGCAGGCCATGCCTACCGACGCTGTGACCGCAATGGCAGCTGGGAGCTGGTGCCTGGGCACAACAGGACGTGGGCCAACTACAGCGAGTGTGTCAAATTTCTCACCAATGAGACTCGTGAACGGGTGCGAGCCTTTCTCCTCCCCAACCTGACCAGGATAAATTCACTCCCACCCCACGGGTGACCCCTGACCCAGCCCTGACCCCTGACCTTGACTCCTCCAGCAACCTTACCCTGGCCTCTTGCTCTTACCCTGATGCTCTCCCTGGGTCCCAGGGCTCTGACTGTGTCTCCCCCCGCCCCGCACAGGAGGTGTTTGACCGCCTGGGCATGATTTACACCGTGGGCTACTCCGTGTCCCTGGCGTCCCTCACCGTAGCTGTGCTCATCCTGGCCTACTTTAGGTGGGCGGGGCGGGGCGAGAGGCGGCGGGACATGGTGGAGGGGGGGCGGTGGCCGAGGTCTGATGCGACCCCCTCCCTGCACCCATCACCCCCGGCGGGTGTCCCTACCTACGGCGCACAACCCAGCTTCCTGTCCACCCACCGCGCGTCCCCGTGCCCCCACCCACGGTCATGTCGCGCGCCCCGCAGGCGGCTGCACTGCACGCGCAACTACATCCACATGCACCTGTTCCTGTCCTTCATGCTGCGCGCCGTGAGCATCTTCGTCAAGGACGCTGTGCTCTACTCTGGCGCCACGCTTGATGAGGCTGAGCGCCTCACCGAGGAGGAGCTGCGCGCCATCGCCCAGGCGCCCCCGCCGCCTGCCACCGCCGCTGCCGGCTACGTGAGTACCCCTCTGCCCGCCCGCTCCCGGTGCCGCCACTGGCCTCGTGGGGCCCCGCCCCGCCCCGCTCCAGCCCGGCCCTCGCCCTGCCCGCCTCCTGCCAGCGCCACTGGCTTCAGCCACTCAAACCCGTCTTATAGGGTCCCTCGCAACCCTCAGCTCTGCCGCCGACCCTGCTGCCAAGGGCTCCGAGTGTCCCACACGCCCCGCGCTGCCATCAAGGCTCCTACCTCAACCCAGTACCCTCTAGCCACTCTACCTCTTCACTTTGCCTCCTGCCCCTGACACCGCATCCCCCTGAGAGAGCCCCCCAAACGAAGCCTGCCCCTTCCTGGCCTGTTTGGCCGGCACCACTTGTCCTCTCCTGCCGCCCCAGCCCCCCAGCCCAGCCCTGACTTCCCGGAGGCAGGCCCTGCCCTCTGACTAACACCAGCTGGTCTCTTAGGCGGGCTGCAGGGTGGCTGTGACCTTCTTCCTTTACTTCCTGGCCACCAACTACTACTGGATTCTGGTGGAGGGGCTGTACCTGCACAGCCTCATCTTCATGGCCTTCTTCTCAGAGAAGAAGTACCTGTGGGGCTTCACAGTCTTCGGCTGGGGTACGCGGGCACAGCGGGTAGCGAGGTGCCGGCAGGGGTGGGACCGTGGGTGACAGGGAGAGGGCAGCCCCTGGGGGGAGGCGCCCACACAGCACATCCCGCCCCAAGTGGAACAGCAGGAGAGAGGCCTGCCGCCCTTCTGTGATCCTGACCCTATTCCAGGCTCAGGAAACAGCAGGGCTTGGCCAGGGATCAGGTTCACCTGAGGTTAGATTCACCTGAATTGAGGCTCGGCCCAGGAGAGGGAAAGGAGGAACCATCAGGCCAAGATTCAGCTCAGGATCAGAGTAGGATACTGGGTCAGAGGTCAGCCTGGGGCTGGAATTGGGATCCGGGACCCTCCCTCTACCCTGAGCCCCATGGACTAGGCCAGCATCTATTACCCCACCAGTCCCCTTGCTGGGATGGGGCGCGGGGCTGCCCACACCATTGCCAGCCTCAGCAGGCCTGCGGGGTCCATGGCCCAGAGCCGTGGGCCCAGCACCTCAGCATCACCTGAGCTTCACAGCACCTCTGCAGAATGGGTTGCTGGAGCTGCGCACTCCTCCCAGCCCCCCACAGGCTCTGGGATCCAGTTACCGATAATTGTCCATTATTGTTGGCAGCTGCAGAGCTTGGCTGGGCTCCGGGACAACTGGCCAGACTGCAGAGGGGTGGGCCGGGTGGCTGGAGCCCTCTCTGCACTCAGCACCCAGAGGCCCACAGGTCAACAGCCACCGCCTCCCTGCCCCTCGACATACATCCTGACCCTGACCTCACCATGACAAGCCCCAGAGTTGGGGAGACCTGGGCCCAGTCCCAGGAACAGATGCAGGCTCTGGGGCTAGGAGGTGTCCTAGTGGACTGGCGACATGCAGATTGGGAGTGCATAGAATCCTGGGGCACAGGAATGTCACAGCTCTTTTTCTTACCGTAAAGCCAGGTCATACCCTATCCCTCCAAGGGTGTACCAGGCCTAGAGTCAAGTTGGTGGTATGTGGTCGGGGAGGACCTGGGGCTCCCTTCCCAGAGGCACAGCTCACCCAAATATACCATGTGCCCCTTGAGCTGGCGCAGGCCAGGACATACTGACACACCGAGGTCTCCCTGTGGCCTCTGCTTGGGACAAAACCTCTCACCCCATCCAGTCTCATCCACGAGGGCTAGGACCTTTCAAACCAGGTTGTGGGGGGTGCTGTGCTGGGGCAAAAAAAAATGCGGAAAATAGGCTGTCTCCCCATGGGAGCTGCAAGTCCAAAGCAGTGCCCTCTGCAGAGGGAGTGGACAGGGCATGGATCAGTTA
CCAGGGCGGGTCCAGCCATCAAGGCAGCCTTCCAGGGTGGCTGGAGAGTCCTGTGGTTGGAGCCCTACAGAGGGAGAGAAGGGGGCTGCAAGCTGGGAGTGGAATGTGGAAGATACAGAGGCTGGGGACCCTCCAAGGTCACTTAGCCTCCCTGCAGTGAGGCTGGGGCTCCAAAGTGGGATGTCACCCTACTTTGAATCCCACCATTAGCACTTAGATTTGGGGAATCGATCTCCCCCAGCAGTGGCCGTGGGAGTCTCACAGCAGGTACTCAGGGCAGGCATTGAGTGGTGGTAGAAGCATGGGCCAATGTGGTTAATCCCAACTTCCCAATGAGGAAATGGAAATAGAAAGACTTGGGACACCTGCGTGAGGTCAGCAGCTCCTTGGAGTCCAGCTGGCACTAGAAACCAGACCTCCTGCCTCCTGTCCATGATCCCAGGGGAAGGGGCACACAGGGAGCCTCCCAGCTGAGGGAGAGTTAGTCTGGGTACTTGCCCTTCTTCAGAGACACCTGGAAGGTGGTTCCAAGAGCAGAGAGAAAGGCGAGAGGCCTGGCCTGGGGCTGAGCACTTGAAGAGGACAGGGCCCTGTGTTGTATGACCTCAGCAAGTTGCCTACCTCTCTTGGCCTCTGTCAGCCCATCTGGAAAATGGGGCCAGTGCCAGTACCTGTATCGCAGAGGCCATAGTAAATTCTATGAGGTGGGTACAGCCCACAGAAATACATTTTCTCCAGAGTGCTCCAAAGCCTGAATTTTCCTGCTTGGGGCACACCTGTCCCTGCAGGAACCAACAACCACTGATGGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCATTGCCCTCCAGCCTGAGCAACAAAAGCGAAACTCCGTCTCAAAAAAACAAAACAAAACAAAAACAAAAACAAACAAACCACAGATGTATTCATCCTTCTGGGTCACTAATCATGGCCTTGACTCTCCCTTGGTATCCCCTACCCTGTCTGTCTCTGGGCACAGGGCGCCCCTGTCTGCCGGAATGGGACCACATCCTGTGCTGGCCGCTGGGGGCACCAGGTGAGGTGGTGGCTGTGCCCTGTCCGGACTACATTTATGACTTCAATCACAAAGGTGAGGCCTGCTGGAAGGGGTGGGGATTACAAGGAGGCTGAGACTTGGAGCTAGGGGTTCAGTGCCTCGAGACCTCCCTGCCGGCCCTGACCTCCCATGGACCTGCAGGCCATGCCTACCGACGCTGTGACCGCAATGGCAGCTGGGAGCTGGTGCCTGGGCACAACAGGACGTGGGCCAACTACAGCGAGTGTGTCAAATTTCTCACCAATGAGACTCGTGAACGGGTGCGAGCCTTTCTCCTCCCCAACCTGACCAGGATAAATTCACTCCCACCCCACGGGTGACCCCTGACCCAGCCCTGACCCCTGACCTTGACTCCTCCAGCAACCTTACCCTGGCCTCTTGCTCTTACCCTGATGCTCTCCCTGGGTCCCAGGGCTCTGACTGTGTCTCCCCCCGCCCCGCACAGGAGGTGTTTGACCGCCTGGGCATGATTTACACCGTGGGCTACTCCGTGTCCCTGGCGTCCCTCACCGTAGCTGTGCTCATCCTGGCCTACTTTAGGTGGGCGGGGCGGGGCGAGAGGCGGCGGGACATGGTGGAGGGGGGGCGGTGGCCGAGGTCTGATGCGACCCCCTCCCTGCACCCATCACCCCCGGCGGGTGTCCCTACCTACGGCGCACAACCCAGCTTCCTGTCCACCCACCGCGCGTCCCCGTGCCCCCACCCACGGTCATGTCGCGCGCCCCGCAGGCGGCTGCACTGCACGCGCAACTACATCCGCATGCACCTGTTCCTGTCCTTCATGCTGCGCGCCGTGAGCATCTTCGTCAAGGACGCTGTGCTCTACTCTGGCGCCACGCTTGATGAGGCTGAGCGCCTCACCGAGGAGGAGCTGCGCGCCATCGCCCAGGCGCCCCCGCCGCCTGCCACCGCCGCTGCCGGCTACGTGAGTACCCCTCTGCCCGCCCGCTCCCGGTGCCGCCACTGGCCTCGTGGGGCCCCGCCCCGCCCCGCTCCAGCCCGGCCCTCGCCCTGCCCGCCTCCTGCCAGCGCCACTGGCTTCAGCCACTCAAACCCGTCTTATAGGGTCCCTCGCAACCCTCAGCTCTGCCGCCGACCCTGCTGCCAAGGGCTCCGAGTGTCCCACACGCCCCGCGCTGCCATCAAGGCTCCTACCTCAACCCAGTACCCTCTAGCCACTCTACCTCTTCACTTTGCCTCCTGCCCCTGACACCGCATCCCCCTGAGAGAGCCCCCCAAACGAAGCCTGCCCCTTCCTGGCCTGTTTGGCCGGCACCACTTGTCCTCTCCTGCCGCCCCAGCCCCCCAGCCCAGCCCTGACTTCCCGGAGGCAGGCCCTGCCCTCTGACTAACACCAGCTGGTCTCTTAGGCGGGCTGCAGGGTGGCTGTGACCTTCTTCCTTTACTTCCTGGCCACCAACTACTACTGGATTCTGGTGGAGGGGCTGTACCTGCACAGCCTCATCTTCATGGCCTTCTTCTCAGAGAAGAAGTACCTGTGGGGCTTCACAGTCTTCGGCTGGGGTACGCGGGCACAGCGGGTAGCGAGGTGCCGGCAGGGGTGGGACCGTGGGTGACAGGGAGAGGGCAGCCCCTGGGGGGAGGCGCCCACACAGCACATCCCGCCCCAAGTGGAACAGCAGGAGAGAGGCCTGCCGCCCTTCTGTGATCCTGACCCTATTCCAGGCTCAGGAAACAGCAGGGCTTGGCCAGGGATCAGGTTCACCTGAGGTTAGATTCACCTGAATTGAGGCTCGGCCCAGGAGAGGGAAAGGAGGAACCATCAGGCCAAGATTCAGCTCAGGATCAGAGTAGGATACTGGGTCAGAGGTCAGCCTGGGGCTGGAATTGGGATCCGGGACCCTCCCTCTACCCTGAGCCCCATGGACTAGGCCAGCATCTATTACCCCACCAGTCCCCTTGCTGGGATGGGGCGCGGGGCTGCCCACACCATTGCCAGCCTCAGCAGGCCTGCGGGGTCCATGGCCCAGAGCCGTGGGCCCAGCACCTCAGCATCACCTGAGCTTCACAGCACCTCTGCAGAATGGGTTGCTGGAGCTGCGCACTCCTCCCAGCCCCCCACAGGCTCTGGGATCCAGTTACCGATAATTGTCCATTATTGTTGGCAGCTGCAGAGCTTGGCTGGGCTCCGGGACAACTGGCCAGACTGCAGAGGGGTGGGCCGGGTGGCTGGAGCCCTCTCTGCACTCAGCACCCAGAGGCCCACAGGTCAACAGCCACCGCCTCCCTGCCCCTCGACATACATCCTGACCCTGACCTCACCATGACAAGCCCCAGAGTTGGGGAGACCTGGGCCCAGTCCCAGGAACAGATGCAGGCTCTGGGGCTAGGAGGTGTCCTAGTGGACTGGCGACATGCAGATTGGGAGTGCATAGAATCCTGGGGCACAGGAATGTCACAGCTCTTTTTCTTACCGTAAAGCCAGGTCATACCCTATCCCTCCAAGGGTGTACCAGGCCTAGAGTCAAGTTGGTGGTATGTGGTCGGGGAGGACCTGGGGCTCCCTTCCCAGAGGCACAGCTCACCCAAATATACCATGTGCCCCTTGAGCTGGCGCAGGCCAGGACATACTGACACACCGAGGTCTCCCTGTGGCCTCTGCTTGGGACAAAACCTCTCACCCCATCCAGTCTCATCCACGAGGGCTAGGACCTTTCAAACCAGGTTGTGGGGGGTGCTGTGCTGGGGCAAAAAAAAATGCGGAAAATAGGCTGTCTCCCCATGGGAGCTGCAAGTCCAAAGCAGTGCCCTCTGCAGAGGGAGTGGACAGGGCATGGATCAGTTA
Task1_train_6714
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?
Pathogenic; not provided
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
CCCCTTGAGCTGGCGCAGGCCAGGACATACTGACACACCGAGGTCTCCCTGTGGCCTCTGCTTGGGACAAAACCTCTCACCCCATCCAGTCTCATCCACGAGGGCTAGGACCTTTCAAACCAGGTTGTGGGGGGTGCTGTGCTGGGGCAAAAAAAAATGCGGAAAATAGGCTGTCTCCCCATGGGAGCTGCAAGTCCAAAGCAGTGCCCTCTGCAGAGGGAGTGGACAGGGCATGGATCAGTTAGTGATACCTTATTATTATATTATGCCTTGTACCCCATATATGTGCATATGACATGGAGCCAAGATGAGGGCAGAGGCTGAGCTGGGTTTTGAGGGCTGGAGCCCCAAGGGGAAGCTGTTAGGGCACCACATGGCAGAGTGTGGCTCTGTCACCAAGTGGACCAAGTGCCCAGTGTCAGGGGTTCAGGGCAATGGTGGGGTAAGCTGGGGGTCATCGAGGATGAGGGGGGAATGACCTTGTGGACAGCAGCCACAGTCCTGCACACTGTCCCCCTCTGTGCCCACAGGTCTGCCCGCTGTCTTCGTGGCTGTGTGGGTCAGTGTCAGAGCTACCCTGGCCAACACCGGGTAGGTCCAGGTGGAGAAGGGGCCCAGGCAAGAAGCACCCCTGGGTCCCTTTTCTTCCAGGAAGCATGTGAGAGGGCCTCCTGTACCCTGGCCTCAAACGGCCCAGCCTCAGGAGTTCTCAGTCCAGCCTCAAGCCAGGAGCACCCTCAGGGTCACAGGAGGCTACTTCCAAAGAGGCCTGTGAGGGAGGCCTCAGGCCTGGCCACACCCAGCACCCCTGCCCTGTGTCCTCAACAGCTAATGTCAGACCAGACCAAATCTGGGTCTCTGTGGGCAGTCTTAGGATGGGAACAGGAGGGATGGGAGCTAATGCCTCAACCTCCCCCAGGTGCTGGGACTTGAGCTCCGGGAACAAAAAGTGGATCATCCAGGTGCCCATCCTGGCCTCCATTGTGGTGAGCAGGGGTGGGCTGCTGGCCACAGGGGTGGGTGGGATGTGCGCCTGCGTCCCCTGGAACCAGCCCCTGACAGGGACCTAGGAGGCTTCCCTGGACCCCAGTGTCAGAGCTACAGAGGCCGGAGGACCAGCTGATCCACACTCCAGCCCAGAAAGGAAAACCAAGGGCTCAAGGAGCCACCCAGAGATGCAGTGACAGAGCAGAGCCTATGGCCGTGGCTGCCAGGCCTTGCCCCGCCCCACTAGGGTGCAGCCTCCAGACGCAGCCCCCTCACTCCCACAGCTCAACTTCATCCTCTTCATCAATATCGTCCGGGTGCTCGCCACCAAGCTGCGGGAGACCAACGCCGGCCGGTGTGACACACGGCAGCAGTACCGGTGAGCCCACCATGCCTGCCATGCCCTGGCTCCTCAGGGGTCCCTGAGTCCTGGTACCATGTACCCCAGGAAAGACAGTGGCCCCATGAATGATCCTGGGGCAAGGGAAAGGACCCAGCGTCTGACTCCCTGGCTGTCCTCACCCACCTGGCCTGCCCAGCAGTGATGGGAGGCCCTAGGGCACCCCAAAGCCAGCCTGCCCACTTGTACCAGGCCCTGCACTAGAGCTGGAGTCTGTGAGTGTGCAACGAACTTGAACCTCTCCTCAAAGAGTTGGTTGCAGGGGGTCTGAGGAACAGGTAGGCGGTGAGTGGCCCCGGGAAGGCTGCAGCTCAGCTGAAACCTGAGGAGCGGACTGTGGGATAGTGAGGTTCGACCGTGGAGGGGAGTGCTTGCCAGCTGAGGGCTCCACAGGTGCGAAGGGCCCAGGGACAGGGGGACTGTCATTTGAAGTCCGCTCCGGGACACCGCTGAGAACCAACGGGCCCTATTAGCACTTAGCCAGGACAGCAGCCATGCAGGTGAACTGGGTTGTCCTCCCATGGTGACTGGAGCCCTGGGCCCCTTTGAGCTTCCGGAGCCTGGGGCTCGCAGGGTGGGGGGTGGCACAATGCTTGTTGAAGGGGAAGTGGCTTGGCCCTGACCTACCTGCCCCGCTGGCCCAGGAAGCTGCTCAAATCCACGCTGGTGCTCATGCCCCTCTTTGGCGTCCACTACATTGTCTTCATGGCCACACCATACACCGAGGTCTCAGGGACGCTCTGGCAAGTCCAGATGCACTATGAGATGCTCTTCAACTCCTTCCAGGTGCGCAGTGCTGGCCCGGGCCTGGCTGAGGGTGGGAGGGGTTCCGGGGGCAGGCCTGATTCGAGACACCCCTCTTCACAGGGATTTTTTGTCGCAATCATATACTGTTTCTGCAATGGCGAGGTAAGCAGGAGACAGTGTTGGCATAGGGCAGGGTGGGGCAGATACCCCAGAGGCTTCCTCAAGGCTCATTTCTCCATTCTTCCACCCTGTTATTTCTTTGTTCCTCCAAGAACACCCCTGAGGACATTCTGAAAGCAGAGAAGTCTTTCCAGATGATGCAGGTTCAGGATGTGCTAGGATGTGGGGACTCTTCAGTCACTGGCATAGCCAAGTGTCTTCCCAGCCCCATGGTTCAATTATCTGTGACCCAGATTGGAGGACTCAGCCACCTTTGGGGCAATTTGAGCCTTGTAGATTCTGGGTGTGTCGGCTGCCTGTAGCCAAACACCCTGTTGTGAGGATGGGATTTCACTTGGCCTTGGAGTTTCCCAGGAGTCCCCTATTCCCATTTTCATTCCGTGCTGGGTGTCCAGGGGCCGGGATGGGGCATCGCTGGGGTTGGGAGACACACCTGACTGCCGCACCCTTACTGCCCCAAGGTACAAGCTGAGATCAAGAAATCTTGGAGCCGCTGGACACTGGCACTGGACTTCAAGCGAAAGGCACGCAGCGGGAGCAGCAGCTATAGCTACGGCCCCATGGTGTCCCACACAAGTGTGACCAATGTCGGCCCCCGTGTGGGACTCGGCCTGCCCCTCAGCCCCCGCCTACTGCCCACTGCCACCACCAACGGCCACCCTCAGCTGCCTGGCCATGCCAAGCCAGGGACCCCAGCCCTGGAGACCCTCGAGACCACACCACCTGCCATGGCTGCTCCCAAGGACGATGGGTTCCTCAACGGCTCCTGCTCAGGCCTGGACGAGGAGGCCTCTGGGCCTGAGCGGCCACCTGCCCTGCTACAGGAAGAGTGGGAGACAGTCATGTGACCAGGCGCTGGGGGCTGGACCTGCTGACATAGTGGATGGACAGATGGACCAAAAGATGGGTGGTTGAATGATTTCCCACTCAGGGCTGGGGCCAAGAGGAAAAACAGGGAAAAAAAGAAAAAAAAAAGAAAAAGGAAAAGGAAGCGGTGTGTGGCTTCCTGTGGCCCAAACTGGGGACTCACTCCGAGAGGGTGGGGCTGGGAGCCAGGGAAAGCTGTGGCGGGAGGGCCATGAGTCATGGAGGAATCCTCAGGTCTCACTTCAGAATGGGGAGGGATCTGGGGCCTGTGGTATCCAGCAGAAAGGGCCCAGAGTGGCTCAAGTCTGCAGGGGTCACACAGCAGCCAAGTGGACCCATGTGGAAATCCAGCCTCAGCCTCCGTTGCTGCCAGCTGTGGAGCTGCTCTCCACACTTGTACCTAGACCCCATGGGGGACCCAGGCTCCTCTGGGCCAACTCTTCTGACTGCTGCCCCCATCACTGCCACCCAGGGCTGCTGGCAGATCCCTCGGGTCCCTGGCCACACCCCCAAGCCTACGGCCCTGCCACAGAATGGACCTTTCCTGGCTGTCCAGTGGCCACTCAGGGAGCCCTCCACGCAGGAGCCTTAGCATCCACCCGTGACCTGACATGCCTCTGTGACTGAGGTTGCAGTAGGAGCACCAGGCCAGCAGGTGAAGGGTGGGCTGGGTCCCTGCTCTGGCTCAGGACTTGTGGGGAGCCAGGAGTCTGAGCCCAGAGGGCTGGCTGGGCAGGGGCCTGCAAGGTGGGACACATCCATTCACTATGCATCTGGGACAGTCACTAAGTGTCCTCACCTGACACCCACCTACCACCTTACTCACCCCCCCGGACCGTGCCCTCTCCCACCTTGGGCCATTCGTGGGCCCCAGAGTGGCACAGAGCCCCTCAGCCCGACACCCTGAGGACTGAC
CCCCTTGAGCTGGCGCAGGCCAGGACATACTGACACACCGAGGTCTCCCTGTGGCCTCTGCTTGGGACAAAACCTCTCACCCCATCCAGTCTCATCCACGAGGGCTAGGACCTTTCAAACCAGGTTGTGGGGGGTGCTGTGCTGGGGCAAAAAAAAATGCGGAAAATAGGCTGTCTCCCCATGGGAGCTGCAAGTCCAAAGCAGTGCCCTCTGCAGAGGGAGTGGACAGGGCATGGATCAGTTAGTGATACCTTATTATTATATTATGCCTTGTACCCCATATATGTGCATATGACATGGAGCCAAGATGAGGGCAGAGGCTGAGCTGGGTTTTGAGGGCTGGAGCCCCAAGGGGAAGCTGTTAGGGCACCACATGGCAGAGTGTGGCTCTGTCACCAAGTGGACCAAGTGCCCAGTGTCAGGGGTTCAGGGCAATGGTGGGGTAAGCTGGGGGTCATCGAGGATGAGGGGGGAATGACCTTGTGGACAGCAGCCACAGTCCTGCACACTGTCCCCCTCTGTGCCCACAGGTCTGCCCGCTGTCTTCGTGGCTGTGTGGGTCAGTGTCAGAGCTACCCTGGCCAACACCGGGTAGGTCCAGGTGGAGAAGGGGCCCAGGCAAGAAGCACCCCTGGGTCCCTTTTCTTCCAGGAAGCATGTGAGAGGGCCTCCTGTACCCTGGCCTCAAACGGCCCAGCCTCAGGAGTTCTCAGTCCAGCCTCAAGCCAGGAGCACCCTCAGGGTCACAGGAGGCTACTTCCAAAGAGGCCTGTGAGGGAGGCCTCAGGCCTGGCCACACCCAGCACCCCTGCCCTGTGTCCTCAACAGCTAATGTCAGACCAGACCAAATCTGGGTCTCTGTGGGCAGTCTTAGGATGGGAACAGGAGGGATGGGAGCTAATGCCTCAACCTCCCCCAGGTGCTGGGACTTGAGCTCCGGGAACAAAAAGTGGATCATCCAGGTGCCCATCCTGGCCTCCATTGTGGTGAGCAGGGGTGGGCTGCTGGCCACAGGGGTGGGTGGGATGTGCGCCTGCGTCCCCTGGAACCAGCCCCTGACAGGGACCTAGGAGGCTTCCCTGGACCCCAGTGTCAGAGCTACAGAGGCCGGAGGACCAGCTGATCCACACTCCAGCCCAGAAAGGAAAACCAAGGGCTCAAGGAGCCACCCAGAGATGCAGTGACAGAGCAGAGCCTATGGCCGTGGCTGCCAGGCCTTGCCCCGCCCCACTAGGGTGCAGCCTCCAGACGCAGCCCCCTCACTCCCACAGCTCAACTTCATCCTCTTCATCAATATCGTCCGGGTGCTCGCCACCAAGCTGCGGGAGACCAACGCCGGCCGGTGTGACACACGGCAGCAGTACCGGTGAGCCCACCATGCCTGCCATGCCCTGGCTCCTCAGGGGTCCCTGAGTCCTGGTACCATGTACCCCAGGAAAGACAGTGGCCCCATGAATGATCCTGGGGCAAGGGAAAGGACCCAGCGTCTGACTCCCTGGCTGTCCTCACCCACCTGGCCTGCCCAGCAGTGATGGGAGGCCCTAGGGCACCCCAAAGCCAGCCTGCCCACTTGTACCAGGCCCTGCACTAGAGCTGGAGTCTGTGAGTGTGCAACGAACTTGAACCTCTCCTCAAAGAGTTGGTTGCAGGGGGTCTGAGGAACAGGTAGGCGGTGAGTGGCCCCGGGAAGGCTGCAGCTCAGCTGAAACCTGAGGAGCGGACTGTGGGATAGTGAGGTTCGACCGTGGAGGGGAGTGCTTGCCAGCTGAGGGCTCCACAGGTGCGAAGGGCCCAGGGACAGGGGGACTGTCATTTGAAGTCCGCTCCGGGACACCGCTGAGAACCAACGGGCCCTATTAGCACTTAGCCAGGACAGCAGCCATGCAGGTGAACTGGGTTGTCCTCCCATGGTGACTGGAGCCCTGGGCCCCTTTGAGCTTCCGGAGCCTGGGGCTCGCAGGGTGGGGGGTGGCACAATGCTTGTTGAAGGGGAAGTGGCTTGGCCCTGACCTACCTGCCCCGCTGGCCCAGGAAGCTGCTCAAATCCAGGCTGGTGCTCATGCCCCTCTTTGGCGTCCACTACATTGTCTTCATGGCCACACCATACACCGAGGTCTCAGGGACGCTCTGGCAAGTCCAGATGCACTATGAGATGCTCTTCAACTCCTTCCAGGTGCGCAGTGCTGGCCCGGGCCTGGCTGAGGGTGGGAGGGGTTCCGGGGGCAGGCCTGATTCGAGACACCCCTCTTCACAGGGATTTTTTGTCGCAATCATATACTGTTTCTGCAATGGCGAGGTAAGCAGGAGACAGTGTTGGCATAGGGCAGGGTGGGGCAGATACCCCAGAGGCTTCCTCAAGGCTCATTTCTCCATTCTTCCACCCTGTTATTTCTTTGTTCCTCCAAGAACACCCCTGAGGACATTCTGAAAGCAGAGAAGTCTTTCCAGATGATGCAGGTTCAGGATGTGCTAGGATGTGGGGACTCTTCAGTCACTGGCATAGCCAAGTGTCTTCCCAGCCCCATGGTTCAATTATCTGTGACCCAGATTGGAGGACTCAGCCACCTTTGGGGCAATTTGAGCCTTGTAGATTCTGGGTGTGTCGGCTGCCTGTAGCCAAACACCCTGTTGTGAGGATGGGATTTCACTTGGCCTTGGAGTTTCCCAGGAGTCCCCTATTCCCATTTTCATTCCGTGCTGGGTGTCCAGGGGCCGGGATGGGGCATCGCTGGGGTTGGGAGACACACCTGACTGCCGCACCCTTACTGCCCCAAGGTACAAGCTGAGATCAAGAAATCTTGGAGCCGCTGGACACTGGCACTGGACTTCAAGCGAAAGGCACGCAGCGGGAGCAGCAGCTATAGCTACGGCCCCATGGTGTCCCACACAAGTGTGACCAATGTCGGCCCCCGTGTGGGACTCGGCCTGCCCCTCAGCCCCCGCCTACTGCCCACTGCCACCACCAACGGCCACCCTCAGCTGCCTGGCCATGCCAAGCCAGGGACCCCAGCCCTGGAGACCCTCGAGACCACACCACCTGCCATGGCTGCTCCCAAGGACGATGGGTTCCTCAACGGCTCCTGCTCAGGCCTGGACGAGGAGGCCTCTGGGCCTGAGCGGCCACCTGCCCTGCTACAGGAAGAGTGGGAGACAGTCATGTGACCAGGCGCTGGGGGCTGGACCTGCTGACATAGTGGATGGACAGATGGACCAAAAGATGGGTGGTTGAATGATTTCCCACTCAGGGCTGGGGCCAAGAGGAAAAACAGGGAAAAAAAGAAAAAAAAAAGAAAAAGGAAAAGGAAGCGGTGTGTGGCTTCCTGTGGCCCAAACTGGGGACTCACTCCGAGAGGGTGGGGCTGGGAGCCAGGGAAAGCTGTGGCGGGAGGGCCATGAGTCATGGAGGAATCCTCAGGTCTCACTTCAGAATGGGGAGGGATCTGGGGCCTGTGGTATCCAGCAGAAAGGGCCCAGAGTGGCTCAAGTCTGCAGGGGTCACACAGCAGCCAAGTGGACCCATGTGGAAATCCAGCCTCAGCCTCCGTTGCTGCCAGCTGTGGAGCTGCTCTCCACACTTGTACCTAGACCCCATGGGGGACCCAGGCTCCTCTGGGCCAACTCTTCTGACTGCTGCCCCCATCACTGCCACCCAGGGCTGCTGGCAGATCCCTCGGGTCCCTGGCCACACCCCCAAGCCTACGGCCCTGCCACAGAATGGACCTTTCCTGGCTGTCCAGTGGCCACTCAGGGAGCCCTCCACGCAGGAGCCTTAGCATCCACCCGTGACCTGACATGCCTCTGTGACTGAGGTTGCAGTAGGAGCACCAGGCCAGCAGGTGAAGGGTGGGCTGGGTCCCTGCTCTGGCTCAGGACTTGTGGGGAGCCAGGAGTCTGAGCCCAGAGGGCTGGCTGGGCAGGGGCCTGCAAGGTGGGACACATCCATTCACTATGCATCTGGGACAGTCACTAAGTGTCCTCACCTGACACCCACCTACCACCTTACTCACCCCCCCGGACCGTGCCCTCTCCCACCTTGGGCCATTCGTGGGCCCCAGAGTGGCACAGAGCCCCTCAGCCCGACACCCTGAGGACTGAC
Task1_train_6717
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?
Pathogenic; Metaphyseal chondrodysplasia, Jansen type
ACAGGGCATGGATCAGTTAGTGATACCTTATTATTATATTATGCCTTGTACCCCATATATGTGCATATGACATGGAGCCAAGATGAGGGCAGAGGCTGAGCTGGGTTTTGAGGGCTGGAGCCCCAAGGGGAAGCTGTTAGGGCACCACATGGCAGAGTGTGGCTCTGTCACCAAGTGGACCAAGTGCCCAGTGTCAGGGGTTCAGGGCAATGGTGGGGTAAGCTGGGGGTCATCGAGGATGAGGGGGGAATGACCTTGTGGACAGCAGCCACAGTCCTGCACACTGTCCCCCTCTGTGCCCACAGGTCTGCCCGCTGTCTTCGTGGCTGTGTGGGTCAGTGTCAGAGCTACCCTGGCCAACACCGGGTAGGTCCAGGTGGAGAAGGGGCCCAGGCAAGAAGCACCCCTGGGTCCCTTTTCTTCCAGGAAGCATGTGAGAGGGCCTCCTGTACCCTGGCCTCAAACGGCCCAGCCTCAGGAGTTCTCAGTCCAGCCTCAAGCCAGGAGCACCCTCAGGGTCACAGGAGGCTACTTCCAAAGAGGCCTGTGAGGGAGGCCTCAGGCCTGGCCACACCCAGCACCCCTGCCCTGTGTCCTCAACAGCTAATGTCAGACCAGACCAAATCTGGGTCTCTGTGGGCAGTCTTAGGATGGGAACAGGAGGGATGGGAGCTAATGCCTCAACCTCCCCCAGGTGCTGGGACTTGAGCTCCGGGAACAAAAAGTGGATCATCCAGGTGCCCATCCTGGCCTCCATTGTGGTGAGCAGGGGTGGGCTGCTGGCCACAGGGGTGGGTGGGATGTGCGCCTGCGTCCCCTGGAACCAGCCCCTGACAGGGACCTAGGAGGCTTCCCTGGACCCCAGTGTCAGAGCTACAGAGGCCGGAGGACCAGCTGATCCACACTCCAGCCCAGAAAGGAAAACCAAGGGCTCAAGGAGCCACCCAGAGATGCAGTGACAGAGCAGAGCCTATGGCCGTGGCTGCCAGGCCTTGCCCCGCCCCACTAGGGTGCAGCCTCCAGACGCAGCCCCCTCACTCCCACAGCTCAACTTCATCCTCTTCATCAATATCGTCCGGGTGCTCGCCACCAAGCTGCGGGAGACCAACGCCGGCCGGTGTGACACACGGCAGCAGTACCGGTGAGCCCACCATGCCTGCCATGCCCTGGCTCCTCAGGGGTCCCTGAGTCCTGGTACCATGTACCCCAGGAAAGACAGTGGCCCCATGAATGATCCTGGGGCAAGGGAAAGGACCCAGCGTCTGACTCCCTGGCTGTCCTCACCCACCTGGCCTGCCCAGCAGTGATGGGAGGCCCTAGGGCACCCCAAAGCCAGCCTGCCCACTTGTACCAGGCCCTGCACTAGAGCTGGAGTCTGTGAGTGTGCAACGAACTTGAACCTCTCCTCAAAGAGTTGGTTGCAGGGGGTCTGAGGAACAGGTAGGCGGTGAGTGGCCCCGGGAAGGCTGCAGCTCAGCTGAAACCTGAGGAGCGGACTGTGGGATAGTGAGGTTCGACCGTGGAGGGGAGTGCTTGCCAGCTGAGGGCTCCACAGGTGCGAAGGGCCCAGGGACAGGGGGACTGTCATTTGAAGTCCGCTCCGGGACACCGCTGAGAACCAACGGGCCCTATTAGCACTTAGCCAGGACAGCAGCCATGCAGGTGAACTGGGTTGTCCTCCCATGGTGACTGGAGCCCTGGGCCCCTTTGAGCTTCCGGAGCCTGGGGCTCGCAGGGTGGGGGGTGGCACAATGCTTGTTGAAGGGGAAGTGGCTTGGCCCTGACCTACCTGCCCCGCTGGCCCAGGAAGCTGCTCAAATCCACGCTGGTGCTCATGCCCCTCTTTGGCGTCCACTACATTGTCTTCATGGCCACACCATACACCGAGGTCTCAGGGACGCTCTGGCAAGTCCAGATGCACTATGAGATGCTCTTCAACTCCTTCCAGGTGCGCAGTGCTGGCCCGGGCCTGGCTGAGGGTGGGAGGGGTTCCGGGGGCAGGCCTGATTCGAGACACCCCTCTTCACAGGGATTTTTTGTCGCAATCATATACTGTTTCTGCAATGGCGAGGTAAGCAGGAGACAGTGTTGGCATAGGGCAGGGTGGGGCAGATACCCCAGAGGCTTCCTCAAGGCTCATTTCTCCATTCTTCCACCCTGTTATTTCTTTGTTCCTCCAAGAACACCCCTGAGGACATTCTGAAAGCAGAGAAGTCTTTCCAGATGATGCAGGTTCAGGATGTGCTAGGATGTGGGGACTCTTCAGTCACTGGCATAGCCAAGTGTCTTCCCAGCCCCATGGTTCAATTATCTGTGACCCAGATTGGAGGACTCAGCCACCTTTGGGGCAATTTGAGCCTTGTAGATTCTGGGTGTGTCGGCTGCCTGTAGCCAAACACCCTGTTGTGAGGATGGGATTTCACTTGGCCTTGGAGTTTCCCAGGAGTCCCCTATTCCCATTTTCATTCCGTGCTGGGTGTCCAGGGGCCGGGATGGGGCATCGCTGGGGTTGGGAGACACACCTGACTGCCGCACCCTTACTGCCCCAAGGTACAAGCTGAGATCAAGAAATCTTGGAGCCGCTGGACACTGGCACTGGACTTCAAGCGAAAGGCACGCAGCGGGAGCAGCAGCTATAGCTACGGCCCCATGGTGTCCCACACAAGTGTGACCAATGTCGGCCCCCGTGTGGGACTCGGCCTGCCCCTCAGCCCCCGCCTACTGCCCACTGCCACCACCAACGGCCACCCTCAGCTGCCTGGCCATGCCAAGCCAGGGACCCCAGCCCTGGAGACCCTCGAGACCACACCACCTGCCATGGCTGCTCCCAAGGACGATGGGTTCCTCAACGGCTCCTGCTCAGGCCTGGACGAGGAGGCCTCTGGGCCTGAGCGGCCACCTGCCCTGCTACAGGAAGAGTGGGAGACAGTCATGTGACCAGGCGCTGGGGGCTGGACCTGCTGACATAGTGGATGGACAGATGGACCAAAAGATGGGTGGTTGAATGATTTCCCACTCAGGGCTGGGGCCAAGAGGAAAAACAGGGAAAAAAAGAAAAAAAAAAGAAAAAGGAAAAGGAAGCGGTGTGTGGCTTCCTGTGGCCCAAACTGGGGACTCACTCCGAGAGGGTGGGGCTGGGAGCCAGGGAAAGCTGTGGCGGGAGGGCCATGAGTCATGGAGGAATCCTCAGGTCTCACTTCAGAATGGGGAGGGATCTGGGGCCTGTGGTATCCAGCAGAAAGGGCCCAGAGTGGCTCAAGTCTGCAGGGGTCACACAGCAGCCAAGTGGACCCATGTGGAAATCCAGCCTCAGCCTCCGTTGCTGCCAGCTGTGGAGCTGCTCTCCACACTTGTACCTAGACCCCATGGGGGACCCAGGCTCCTCTGGGCCAACTCTTCTGACTGCTGCCCCCATCACTGCCACCCAGGGCTGCTGGCAGATCCCTCGGGTCCCTGGCCACACCCCCAAGCCTACGGCCCTGCCACAGAATGGACCTTTCCTGGCTGTCCAGTGGCCACTCAGGGAGCCCTCCACGCAGGAGCCTTAGCATCCACCCGTGACCTGACATGCCTCTGTGACTGAGGTTGCAGTAGGAGCACCAGGCCAGCAGGTGAAGGGTGGGCTGGGTCCCTGCTCTGGCTCAGGACTTGTGGGGAGCCAGGAGTCTGAGCCCAGAGGGCTGGCTGGGCAGGGGCCTGCAAGGTGGGACACATCCATTCACTATGCATCTGGGACAGTCACTAAGTGTCCTCACCTGACACCCACCTACCACCTTACTCACCCCCCCGGACCGTGCCCTCTCCCACCTTGGGCCATTCGTGGGCCCCAGAGTGGCACAGAGCCCCTCAGCCCGACACCCTGAGGACTGACCCTACAGCATGCCCACCCCGGGCTCTGGCCTGAACGAGCTTCTTGCTCTTGCTCCAGCCTAAAGACAGCCCCGCACGAGCCCTGCCCTGCCTTCCCATCTCCCGCTCAGCCCGTCTTACTCTTCTCCACGGACTCGGCATCCAGGAGTGCACCTCATCTCCAGCAGCCCACACACACCCCATAGGGCATAGGGGAGGGGTCAGGAGGCCCAAGACAAAAAACTCA
ACAGGGCATGGATCAGTTAGTGATACCTTATTATTATATTATGCCTTGTACCCCATATATGTGCATATGACATGGAGCCAAGATGAGGGCAGAGGCTGAGCTGGGTTTTGAGGGCTGGAGCCCCAAGGGGAAGCTGTTAGGGCACCACATGGCAGAGTGTGGCTCTGTCACCAAGTGGACCAAGTGCCCAGTGTCAGGGGTTCAGGGCAATGGTGGGGTAAGCTGGGGGTCATCGAGGATGAGGGGGGAATGACCTTGTGGACAGCAGCCACAGTCCTGCACACTGTCCCCCTCTGTGCCCACAGGTCTGCCCGCTGTCTTCGTGGCTGTGTGGGTCAGTGTCAGAGCTACCCTGGCCAACACCGGGTAGGTCCAGGTGGAGAAGGGGCCCAGGCAAGAAGCACCCCTGGGTCCCTTTTCTTCCAGGAAGCATGTGAGAGGGCCTCCTGTACCCTGGCCTCAAACGGCCCAGCCTCAGGAGTTCTCAGTCCAGCCTCAAGCCAGGAGCACCCTCAGGGTCACAGGAGGCTACTTCCAAAGAGGCCTGTGAGGGAGGCCTCAGGCCTGGCCACACCCAGCACCCCTGCCCTGTGTCCTCAACAGCTAATGTCAGACCAGACCAAATCTGGGTCTCTGTGGGCAGTCTTAGGATGGGAACAGGAGGGATGGGAGCTAATGCCTCAACCTCCCCCAGGTGCTGGGACTTGAGCTCCGGGAACAAAAAGTGGATCATCCAGGTGCCCATCCTGGCCTCCATTGTGGTGAGCAGGGGTGGGCTGCTGGCCACAGGGGTGGGTGGGATGTGCGCCTGCGTCCCCTGGAACCAGCCCCTGACAGGGACCTAGGAGGCTTCCCTGGACCCCAGTGTCAGAGCTACAGAGGCCGGAGGACCAGCTGATCCACACTCCAGCCCAGAAAGGAAAACCAAGGGCTCAAGGAGCCACCCAGAGATGCAGTGACAGAGCAGAGCCTATGGCCGTGGCTGCCAGGCCTTGCCCCGCCCCACTAGGGTGCAGCCTCCAGACGCAGCCCCCTCACTCCCACAGCTCAACTTCATCCTCTTCATCAATATCGTCCGGGTGCTCGCCACCAAGCTGCGGGAGACCAACGCCGGCCGGTGTGACACACGGCAGCAGTACCGGTGAGCCCACCATGCCTGCCATGCCCTGGCTCCTCAGGGGTCCCTGAGTCCTGGTACCATGTACCCCAGGAAAGACAGTGGCCCCATGAATGATCCTGGGGCAAGGGAAAGGACCCAGCGTCTGACTCCCTGGCTGTCCTCACCCACCTGGCCTGCCCAGCAGTGATGGGAGGCCCTAGGGCACCCCAAAGCCAGCCTGCCCACTTGTACCAGGCCCTGCACTAGAGCTGGAGTCTGTGAGTGTGCAACGAACTTGAACCTCTCCTCAAAGAGTTGGTTGCAGGGGGTCTGAGGAACAGGTAGGCGGTGAGTGGCCCCGGGAAGGCTGCAGCTCAGCTGAAACCTGAGGAGCGGACTGTGGGATAGTGAGGTTCGACCGTGGAGGGGAGTGCTTGCCAGCTGAGGGCTCCACAGGTGCGAAGGGCCCAGGGACAGGGGGACTGTCATTTGAAGTCCGCTCCGGGACACCGCTGAGAACCAACGGGCCCTATTAGCACTTAGCCAGGACAGCAGCCATGCAGGTGAACTGGGTTGTCCTCCCATGGTGACTGGAGCCCTGGGCCCCTTTGAGCTTCCGGAGCCTGGGGCTCGCAGGGTGGGGGGTGGCACAATGCTTGTTGAAGGGGAAGTGGCTTGGCCCTGACCTACCTGCCCCGCTGGCCCAGGAAGCTGCTCAAATCCACGCTGGTGCTCATGCCCCTCTTTGGCGTCCACTACATTGTCTTCATGGCCACACCATACACCGAGGTCTCAGGGACGCTCTGGCAAGTCCAGATGCACTATGAGATGCTCTTCAACTCCTTCCAGGTGCGCAGTGCTGGCCCGGGCCTGGCTGAGGGTGGGAGGGGTTCCGGGGGCAGGCCTGATTCGAGACACCCCTCTTCACAGGGATTTTTTGTCGCAATCAAATACTGTTTCTGCAATGGCGAGGTAAGCAGGAGACAGTGTTGGCATAGGGCAGGGTGGGGCAGATACCCCAGAGGCTTCCTCAAGGCTCATTTCTCCATTCTTCCACCCTGTTATTTCTTTGTTCCTCCAAGAACACCCCTGAGGACATTCTGAAAGCAGAGAAGTCTTTCCAGATGATGCAGGTTCAGGATGTGCTAGGATGTGGGGACTCTTCAGTCACTGGCATAGCCAAGTGTCTTCCCAGCCCCATGGTTCAATTATCTGTGACCCAGATTGGAGGACTCAGCCACCTTTGGGGCAATTTGAGCCTTGTAGATTCTGGGTGTGTCGGCTGCCTGTAGCCAAACACCCTGTTGTGAGGATGGGATTTCACTTGGCCTTGGAGTTTCCCAGGAGTCCCCTATTCCCATTTTCATTCCGTGCTGGGTGTCCAGGGGCCGGGATGGGGCATCGCTGGGGTTGGGAGACACACCTGACTGCCGCACCCTTACTGCCCCAAGGTACAAGCTGAGATCAAGAAATCTTGGAGCCGCTGGACACTGGCACTGGACTTCAAGCGAAAGGCACGCAGCGGGAGCAGCAGCTATAGCTACGGCCCCATGGTGTCCCACACAAGTGTGACCAATGTCGGCCCCCGTGTGGGACTCGGCCTGCCCCTCAGCCCCCGCCTACTGCCCACTGCCACCACCAACGGCCACCCTCAGCTGCCTGGCCATGCCAAGCCAGGGACCCCAGCCCTGGAGACCCTCGAGACCACACCACCTGCCATGGCTGCTCCCAAGGACGATGGGTTCCTCAACGGCTCCTGCTCAGGCCTGGACGAGGAGGCCTCTGGGCCTGAGCGGCCACCTGCCCTGCTACAGGAAGAGTGGGAGACAGTCATGTGACCAGGCGCTGGGGGCTGGACCTGCTGACATAGTGGATGGACAGATGGACCAAAAGATGGGTGGTTGAATGATTTCCCACTCAGGGCTGGGGCCAAGAGGAAAAACAGGGAAAAAAAGAAAAAAAAAAGAAAAAGGAAAAGGAAGCGGTGTGTGGCTTCCTGTGGCCCAAACTGGGGACTCACTCCGAGAGGGTGGGGCTGGGAGCCAGGGAAAGCTGTGGCGGGAGGGCCATGAGTCATGGAGGAATCCTCAGGTCTCACTTCAGAATGGGGAGGGATCTGGGGCCTGTGGTATCCAGCAGAAAGGGCCCAGAGTGGCTCAAGTCTGCAGGGGTCACACAGCAGCCAAGTGGACCCATGTGGAAATCCAGCCTCAGCCTCCGTTGCTGCCAGCTGTGGAGCTGCTCTCCACACTTGTACCTAGACCCCATGGGGGACCCAGGCTCCTCTGGGCCAACTCTTCTGACTGCTGCCCCCATCACTGCCACCCAGGGCTGCTGGCAGATCCCTCGGGTCCCTGGCCACACCCCCAAGCCTACGGCCCTGCCACAGAATGGACCTTTCCTGGCTGTCCAGTGGCCACTCAGGGAGCCCTCCACGCAGGAGCCTTAGCATCCACCCGTGACCTGACATGCCTCTGTGACTGAGGTTGCAGTAGGAGCACCAGGCCAGCAGGTGAAGGGTGGGCTGGGTCCCTGCTCTGGCTCAGGACTTGTGGGGAGCCAGGAGTCTGAGCCCAGAGGGCTGGCTGGGCAGGGGCCTGCAAGGTGGGACACATCCATTCACTATGCATCTGGGACAGTCACTAAGTGTCCTCACCTGACACCCACCTACCACCTTACTCACCCCCCCGGACCGTGCCCTCTCCCACCTTGGGCCATTCGTGGGCCCCAGAGTGGCACAGAGCCCCTCAGCCCGACACCCTGAGGACTGACCCTACAGCATGCCCACCCCGGGCTCTGGCCTGAACGAGCTTCTTGCTCTTGCTCCAGCCTAAAGACAGCCCCGCACGAGCCCTGCCCTGCCTTCCCATCTCCCGCTCAGCCCGTCTTACTCTTCTCCACGGACTCGGCATCCAGGAGTGCACCTCATCTCCAGCAGCCCACACACACCCCATAGGGCATAGGGGAGGGGTCAGGAGGCCCAAGACAAAAAACTCA
Task1_train_6718
This is a variant in PTH1R (parathyroid hormone 1 receptor), located on Chromosome 3. Is this mutation a likely cause of disease or not?
Pathogenic; Metaphyseal chondrodysplasia, Jansen type
ACAGGGCATGGATCAGTTAGTGATACCTTATTATTATATTATGCCTTGTACCCCATATATGTGCATATGACATGGAGCCAAGATGAGGGCAGAGGCTGAGCTGGGTTTTGAGGGCTGGAGCCCCAAGGGGAAGCTGTTAGGGCACCACATGGCAGAGTGTGGCTCTGTCACCAAGTGGACCAAGTGCCCAGTGTCAGGGGTTCAGGGCAATGGTGGGGTAAGCTGGGGGTCATCGAGGATGAGGGGGGAATGACCTTGTGGACAGCAGCCACAGTCCTGCACACTGTCCCCCTCTGTGCCCACAGGTCTGCCCGCTGTCTTCGTGGCTGTGTGGGTCAGTGTCAGAGCTACCCTGGCCAACACCGGGTAGGTCCAGGTGGAGAAGGGGCCCAGGCAAGAAGCACCCCTGGGTCCCTTTTCTTCCAGGAAGCATGTGAGAGGGCCTCCTGTACCCTGGCCTCAAACGGCCCAGCCTCAGGAGTTCTCAGTCCAGCCTCAAGCCAGGAGCACCCTCAGGGTCACAGGAGGCTACTTCCAAAGAGGCCTGTGAGGGAGGCCTCAGGCCTGGCCACACCCAGCACCCCTGCCCTGTGTCCTCAACAGCTAATGTCAGACCAGACCAAATCTGGGTCTCTGTGGGCAGTCTTAGGATGGGAACAGGAGGGATGGGAGCTAATGCCTCAACCTCCCCCAGGTGCTGGGACTTGAGCTCCGGGAACAAAAAGTGGATCATCCAGGTGCCCATCCTGGCCTCCATTGTGGTGAGCAGGGGTGGGCTGCTGGCCACAGGGGTGGGTGGGATGTGCGCCTGCGTCCCCTGGAACCAGCCCCTGACAGGGACCTAGGAGGCTTCCCTGGACCCCAGTGTCAGAGCTACAGAGGCCGGAGGACCAGCTGATCCACACTCCAGCCCAGAAAGGAAAACCAAGGGCTCAAGGAGCCACCCAGAGATGCAGTGACAGAGCAGAGCCTATGGCCGTGGCTGCCAGGCCTTGCCCCGCCCCACTAGGGTGCAGCCTCCAGACGCAGCCCCCTCACTCCCACAGCTCAACTTCATCCTCTTCATCAATATCGTCCGGGTGCTCGCCACCAAGCTGCGGGAGACCAACGCCGGCCGGTGTGACACACGGCAGCAGTACCGGTGAGCCCACCATGCCTGCCATGCCCTGGCTCCTCAGGGGTCCCTGAGTCCTGGTACCATGTACCCCAGGAAAGACAGTGGCCCCATGAATGATCCTGGGGCAAGGGAAAGGACCCAGCGTCTGACTCCCTGGCTGTCCTCACCCACCTGGCCTGCCCAGCAGTGATGGGAGGCCCTAGGGCACCCCAAAGCCAGCCTGCCCACTTGTACCAGGCCCTGCACTAGAGCTGGAGTCTGTGAGTGTGCAACGAACTTGAACCTCTCCTCAAAGAGTTGGTTGCAGGGGGTCTGAGGAACAGGTAGGCGGTGAGTGGCCCCGGGAAGGCTGCAGCTCAGCTGAAACCTGAGGAGCGGACTGTGGGATAGTGAGGTTCGACCGTGGAGGGGAGTGCTTGCCAGCTGAGGGCTCCACAGGTGCGAAGGGCCCAGGGACAGGGGGACTGTCATTTGAAGTCCGCTCCGGGACACCGCTGAGAACCAACGGGCCCTATTAGCACTTAGCCAGGACAGCAGCCATGCAGGTGAACTGGGTTGTCCTCCCATGGTGACTGGAGCCCTGGGCCCCTTTGAGCTTCCGGAGCCTGGGGCTCGCAGGGTGGGGGGTGGCACAATGCTTGTTGAAGGGGAAGTGGCTTGGCCCTGACCTACCTGCCCCGCTGGCCCAGGAAGCTGCTCAAATCCACGCTGGTGCTCATGCCCCTCTTTGGCGTCCACTACATTGTCTTCATGGCCACACCATACACCGAGGTCTCAGGGACGCTCTGGCAAGTCCAGATGCACTATGAGATGCTCTTCAACTCCTTCCAGGTGCGCAGTGCTGGCCCGGGCCTGGCTGAGGGTGGGAGGGGTTCCGGGGGCAGGCCTGATTCGAGACACCCCTCTTCACAGGGATTTTTTGTCGCAATCATATACTGTTTCTGCAATGGCGAGGTAAGCAGGAGACAGTGTTGGCATAGGGCAGGGTGGGGCAGATACCCCAGAGGCTTCCTCAAGGCTCATTTCTCCATTCTTCCACCCTGTTATTTCTTTGTTCCTCCAAGAACACCCCTGAGGACATTCTGAAAGCAGAGAAGTCTTTCCAGATGATGCAGGTTCAGGATGTGCTAGGATGTGGGGACTCTTCAGTCACTGGCATAGCCAAGTGTCTTCCCAGCCCCATGGTTCAATTATCTGTGACCCAGATTGGAGGACTCAGCCACCTTTGGGGCAATTTGAGCCTTGTAGATTCTGGGTGTGTCGGCTGCCTGTAGCCAAACACCCTGTTGTGAGGATGGGATTTCACTTGGCCTTGGAGTTTCCCAGGAGTCCCCTATTCCCATTTTCATTCCGTGCTGGGTGTCCAGGGGCCGGGATGGGGCATCGCTGGGGTTGGGAGACACACCTGACTGCCGCACCCTTACTGCCCCAAGGTACAAGCTGAGATCAAGAAATCTTGGAGCCGCTGGACACTGGCACTGGACTTCAAGCGAAAGGCACGCAGCGGGAGCAGCAGCTATAGCTACGGCCCCATGGTGTCCCACACAAGTGTGACCAATGTCGGCCCCCGTGTGGGACTCGGCCTGCCCCTCAGCCCCCGCCTACTGCCCACTGCCACCACCAACGGCCACCCTCAGCTGCCTGGCCATGCCAAGCCAGGGACCCCAGCCCTGGAGACCCTCGAGACCACACCACCTGCCATGGCTGCTCCCAAGGACGATGGGTTCCTCAACGGCTCCTGCTCAGGCCTGGACGAGGAGGCCTCTGGGCCTGAGCGGCCACCTGCCCTGCTACAGGAAGAGTGGGAGACAGTCATGTGACCAGGCGCTGGGGGCTGGACCTGCTGACATAGTGGATGGACAGATGGACCAAAAGATGGGTGGTTGAATGATTTCCCACTCAGGGCTGGGGCCAAGAGGAAAAACAGGGAAAAAAAGAAAAAAAAAAGAAAAAGGAAAAGGAAGCGGTGTGTGGCTTCCTGTGGCCCAAACTGGGGACTCACTCCGAGAGGGTGGGGCTGGGAGCCAGGGAAAGCTGTGGCGGGAGGGCCATGAGTCATGGAGGAATCCTCAGGTCTCACTTCAGAATGGGGAGGGATCTGGGGCCTGTGGTATCCAGCAGAAAGGGCCCAGAGTGGCTCAAGTCTGCAGGGGTCACACAGCAGCCAAGTGGACCCATGTGGAAATCCAGCCTCAGCCTCCGTTGCTGCCAGCTGTGGAGCTGCTCTCCACACTTGTACCTAGACCCCATGGGGGACCCAGGCTCCTCTGGGCCAACTCTTCTGACTGCTGCCCCCATCACTGCCACCCAGGGCTGCTGGCAGATCCCTCGGGTCCCTGGCCACACCCCCAAGCCTACGGCCCTGCCACAGAATGGACCTTTCCTGGCTGTCCAGTGGCCACTCAGGGAGCCCTCCACGCAGGAGCCTTAGCATCCACCCGTGACCTGACATGCCTCTGTGACTGAGGTTGCAGTAGGAGCACCAGGCCAGCAGGTGAAGGGTGGGCTGGGTCCCTGCTCTGGCTCAGGACTTGTGGGGAGCCAGGAGTCTGAGCCCAGAGGGCTGGCTGGGCAGGGGCCTGCAAGGTGGGACACATCCATTCACTATGCATCTGGGACAGTCACTAAGTGTCCTCACCTGACACCCACCTACCACCTTACTCACCCCCCCGGACCGTGCCCTCTCCCACCTTGGGCCATTCGTGGGCCCCAGAGTGGCACAGAGCCCCTCAGCCCGACACCCTGAGGACTGACCCTACAGCATGCCCACCCCGGGCTCTGGCCTGAACGAGCTTCTTGCTCTTGCTCCAGCCTAAAGACAGCCCCGCACGAGCCCTGCCCTGCCTTCCCATCTCCCGCTCAGCCCGTCTTACTCTTCTCCACGGACTCGGCATCCAGGAGTGCACCTCATCTCCAGCAGCCCACACACACCCCATAGGGCATAGGGGAGGGGTCAGGAGGCCCAAGACAAAAAACTCA
ACAGGGCATGGATCAGTTAGTGATACCTTATTATTATATTATGCCTTGTACCCCATATATGTGCATATGACATGGAGCCAAGATGAGGGCAGAGGCTGAGCTGGGTTTTGAGGGCTGGAGCCCCAAGGGGAAGCTGTTAGGGCACCACATGGCAGAGTGTGGCTCTGTCACCAAGTGGACCAAGTGCCCAGTGTCAGGGGTTCAGGGCAATGGTGGGGTAAGCTGGGGGTCATCGAGGATGAGGGGGGAATGACCTTGTGGACAGCAGCCACAGTCCTGCACACTGTCCCCCTCTGTGCCCACAGGTCTGCCCGCTGTCTTCGTGGCTGTGTGGGTCAGTGTCAGAGCTACCCTGGCCAACACCGGGTAGGTCCAGGTGGAGAAGGGGCCCAGGCAAGAAGCACCCCTGGGTCCCTTTTCTTCCAGGAAGCATGTGAGAGGGCCTCCTGTACCCTGGCCTCAAACGGCCCAGCCTCAGGAGTTCTCAGTCCAGCCTCAAGCCAGGAGCACCCTCAGGGTCACAGGAGGCTACTTCCAAAGAGGCCTGTGAGGGAGGCCTCAGGCCTGGCCACACCCAGCACCCCTGCCCTGTGTCCTCAACAGCTAATGTCAGACCAGACCAAATCTGGGTCTCTGTGGGCAGTCTTAGGATGGGAACAGGAGGGATGGGAGCTAATGCCTCAACCTCCCCCAGGTGCTGGGACTTGAGCTCCGGGAACAAAAAGTGGATCATCCAGGTGCCCATCCTGGCCTCCATTGTGGTGAGCAGGGGTGGGCTGCTGGCCACAGGGGTGGGTGGGATGTGCGCCTGCGTCCCCTGGAACCAGCCCCTGACAGGGACCTAGGAGGCTTCCCTGGACCCCAGTGTCAGAGCTACAGAGGCCGGAGGACCAGCTGATCCACACTCCAGCCCAGAAAGGAAAACCAAGGGCTCAAGGAGCCACCCAGAGATGCAGTGACAGAGCAGAGCCTATGGCCGTGGCTGCCAGGCCTTGCCCCGCCCCACTAGGGTGCAGCCTCCAGACGCAGCCCCCTCACTCCCACAGCTCAACTTCATCCTCTTCATCAATATCGTCCGGGTGCTCGCCACCAAGCTGCGGGAGACCAACGCCGGCCGGTGTGACACACGGCAGCAGTACCGGTGAGCCCACCATGCCTGCCATGCCCTGGCTCCTCAGGGGTCCCTGAGTCCTGGTACCATGTACCCCAGGAAAGACAGTGGCCCCATGAATGATCCTGGGGCAAGGGAAAGGACCCAGCGTCTGACTCCCTGGCTGTCCTCACCCACCTGGCCTGCCCAGCAGTGATGGGAGGCCCTAGGGCACCCCAAAGCCAGCCTGCCCACTTGTACCAGGCCCTGCACTAGAGCTGGAGTCTGTGAGTGTGCAACGAACTTGAACCTCTCCTCAAAGAGTTGGTTGCAGGGGGTCTGAGGAACAGGTAGGCGGTGAGTGGCCCCGGGAAGGCTGCAGCTCAGCTGAAACCTGAGGAGCGGACTGTGGGATAGTGAGGTTCGACCGTGGAGGGGAGTGCTTGCCAGCTGAGGGCTCCACAGGTGCGAAGGGCCCAGGGACAGGGGGACTGTCATTTGAAGTCCGCTCCGGGACACCGCTGAGAACCAACGGGCCCTATTAGCACTTAGCCAGGACAGCAGCCATGCAGGTGAACTGGGTTGTCCTCCCATGGTGACTGGAGCCCTGGGCCCCTTTGAGCTTCCGGAGCCTGGGGCTCGCAGGGTGGGGGGTGGCACAATGCTTGTTGAAGGGGAAGTGGCTTGGCCCTGACCTACCTGCCCCGCTGGCCCAGGAAGCTGCTCAAATCCACGCTGGTGCTCATGCCCCTCTTTGGCGTCCACTACATTGTCTTCATGGCCACACCATACACCGAGGTCTCAGGGACGCTCTGGCAAGTCCAGATGCACTATGAGATGCTCTTCAACTCCTTCCAGGTGCGCAGTGCTGGCCCGGGCCTGGCTGAGGGTGGGAGGGGTTCCGGGGGCAGGCCTGATTCGAGACACCCCTCTTCACAGGGATTTTTTGTCGCAATCAGATACTGTTTCTGCAATGGCGAGGTAAGCAGGAGACAGTGTTGGCATAGGGCAGGGTGGGGCAGATACCCCAGAGGCTTCCTCAAGGCTCATTTCTCCATTCTTCCACCCTGTTATTTCTTTGTTCCTCCAAGAACACCCCTGAGGACATTCTGAAAGCAGAGAAGTCTTTCCAGATGATGCAGGTTCAGGATGTGCTAGGATGTGGGGACTCTTCAGTCACTGGCATAGCCAAGTGTCTTCCCAGCCCCATGGTTCAATTATCTGTGACCCAGATTGGAGGACTCAGCCACCTTTGGGGCAATTTGAGCCTTGTAGATTCTGGGTGTGTCGGCTGCCTGTAGCCAAACACCCTGTTGTGAGGATGGGATTTCACTTGGCCTTGGAGTTTCCCAGGAGTCCCCTATTCCCATTTTCATTCCGTGCTGGGTGTCCAGGGGCCGGGATGGGGCATCGCTGGGGTTGGGAGACACACCTGACTGCCGCACCCTTACTGCCCCAAGGTACAAGCTGAGATCAAGAAATCTTGGAGCCGCTGGACACTGGCACTGGACTTCAAGCGAAAGGCACGCAGCGGGAGCAGCAGCTATAGCTACGGCCCCATGGTGTCCCACACAAGTGTGACCAATGTCGGCCCCCGTGTGGGACTCGGCCTGCCCCTCAGCCCCCGCCTACTGCCCACTGCCACCACCAACGGCCACCCTCAGCTGCCTGGCCATGCCAAGCCAGGGACCCCAGCCCTGGAGACCCTCGAGACCACACCACCTGCCATGGCTGCTCCCAAGGACGATGGGTTCCTCAACGGCTCCTGCTCAGGCCTGGACGAGGAGGCCTCTGGGCCTGAGCGGCCACCTGCCCTGCTACAGGAAGAGTGGGAGACAGTCATGTGACCAGGCGCTGGGGGCTGGACCTGCTGACATAGTGGATGGACAGATGGACCAAAAGATGGGTGGTTGAATGATTTCCCACTCAGGGCTGGGGCCAAGAGGAAAAACAGGGAAAAAAAGAAAAAAAAAAGAAAAAGGAAAAGGAAGCGGTGTGTGGCTTCCTGTGGCCCAAACTGGGGACTCACTCCGAGAGGGTGGGGCTGGGAGCCAGGGAAAGCTGTGGCGGGAGGGCCATGAGTCATGGAGGAATCCTCAGGTCTCACTTCAGAATGGGGAGGGATCTGGGGCCTGTGGTATCCAGCAGAAAGGGCCCAGAGTGGCTCAAGTCTGCAGGGGTCACACAGCAGCCAAGTGGACCCATGTGGAAATCCAGCCTCAGCCTCCGTTGCTGCCAGCTGTGGAGCTGCTCTCCACACTTGTACCTAGACCCCATGGGGGACCCAGGCTCCTCTGGGCCAACTCTTCTGACTGCTGCCCCCATCACTGCCACCCAGGGCTGCTGGCAGATCCCTCGGGTCCCTGGCCACACCCCCAAGCCTACGGCCCTGCCACAGAATGGACCTTTCCTGGCTGTCCAGTGGCCACTCAGGGAGCCCTCCACGCAGGAGCCTTAGCATCCACCCGTGACCTGACATGCCTCTGTGACTGAGGTTGCAGTAGGAGCACCAGGCCAGCAGGTGAAGGGTGGGCTGGGTCCCTGCTCTGGCTCAGGACTTGTGGGGAGCCAGGAGTCTGAGCCCAGAGGGCTGGCTGGGCAGGGGCCTGCAAGGTGGGACACATCCATTCACTATGCATCTGGGACAGTCACTAAGTGTCCTCACCTGACACCCACCTACCACCTTACTCACCCCCCCGGACCGTGCCCTCTCCCACCTTGGGCCATTCGTGGGCCCCAGAGTGGCACAGAGCCCCTCAGCCCGACACCCTGAGGACTGACCCTACAGCATGCCCACCCCGGGCTCTGGCCTGAACGAGCTTCTTGCTCTTGCTCCAGCCTAAAGACAGCCCCGCACGAGCCCTGCCCTGCCTTCCCATCTCCCGCTCAGCCCGTCTTACTCTTCTCCACGGACTCGGCATCCAGGAGTGCACCTCATCTCCAGCAGCCCACACACACCCCATAGGGCATAGGGGAGGGGTCAGGAGGCCCAAGACAAAAAACTCA
Task1_train_6719
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.
Pathogenic; Gray platelet syndrome
AACAGCAAGGTGGGTAGGGCCCAGCCTGGGGGTGAGGGTCTGGAAGCCAGAGGCTAGGGGAGCCACGCATAGGTGCCAGGCTGCTGCTGAGCAAACATGGGCTGGACAGAGTCAGTGTTTTGCAGCTGGTGGGATGGCTTGCAGTTCAGTGGGAGGGTGTGGGGCATGGACAAGGGCCCATCCCTTGGGGCCTCTATAGGACTGGGCTTGAGGCTTAGGACATCTTTGTGCCCCATGGAAGCGGGGCTTGTTATGGAAGGAAGGGAGCTGCTCTGGTGCCTTGTTTCCCTTTCCGTGGCCCCAAGTACAGGGGCTAGAGGAGGGCACCACTGCTTTCAGATGCAGTGCCTGCTCCCACCCGCTCATCCCCCCGACTGCCCATCTGAGCAGGGCACAGGGGGCTCAGCACCCTACTCTTCCCTAGTGCCGGGCAGGGCACCTGGCAGCTGCCCCTGGTCCTGCTCTAACCCCACCCTCTCCCATCTTCCTCCTCTCTTCTTTGCCTCCTCCACCCTGTGCCTCCCCACTTCCCCACAGCTGTACCTGCAGTCCCGGGCGCCCCCCGAGGGGGACAGTGACCTGGCTACCCGGTTACTGACTGAGCCCGATGTCCAAAAGGTACCATCCTGGGGCTGACCAGCTCAGACACCCCCTGGGACTCCCTCTTTGAGCTTTTCCTGCACTATAGCTGGGGAAATGAGCAGATGTGTGTAAGGCCTGGTGTGGTCTAGAAATGGGTGTGGGTCCTCCATGCTGTCTCGCCTGCCTTCCAAGTCCCCATCCTAGGGAACAGGACAGAAGGTGGTCTATCCCCTGCCTGGTGTTTGATTGGGTGTTGGGGGTCTGGCTGTGCCAAGCTGGATGGAACCTTCGAAACTCAGCCACCTACCTCATTTCTCAGAAGGGGAGACAGAAGCCCAGACACTCAAGGATTTGGCTATAGTCACAGAGAAAGGGGTCTCCCTCATGGTGCCATTTCTTTCTGTAGATTCTTGCACCCACCCTCAGCGGGTCACTGGGTGTCCCCCAGCCCCTGATGATGTGATCCCTGATTCACCTTGCATGTGGGCTGTAGGAGGCTGCAGGGTGTCAGCTGGCAGCTTCACAGCGGGCACCCTTTCTGGGGGCTCAACCTGTGGGCCCCAACCTCCATAGCCCCTACCCTGGCTCTGTCTTCATGAGGTAACCCTATGTGTTCACCGCATGTGGTCATTTTCTTAGAGCTTACACGTCTATTCATCTGCAAAGCAGGCAGGGCAAAGTGACTCCCCTCTGTTTTTACAGATGAGGACACTGAGGCCTGGAGGGGGAGGACTGATGCCTTAGGTCACTTGGGGAGTCAGGCAAAGCTGGGACCAAAGGCCCCATGGAGCCGAATATGACCTAGTCCCTGCTGAGAAACTCTCCAAGCCCTCCCAACCCCTGACCCCCTCAGGGTGGGGCAGGAGAGGCAGCAGCATGCCTCTGGCTGTCAGGTTCAGCCAGGCTGAGCCTCAGTGCCCCCACCTGGATCTAGGGGGAAGGGGCAAGGTGGGACTTAAAGGTCTCGAAGGTTCTTCTGGTTCTAACATCCTGTGATTGATTGTCCCTAAATCTCTGACCCCTGTCAATCACTGTGGGTGATGGGGCACTTGCTGGCCTGTCTGTACTCATGTGTCTAGCTTTAGGGAGACAGGTTGGGGGTAGGGCCCTAACTCCACTAGAGAAAGGGGGACTGGAGGGTGCAGTCAGAGTGTCCACCATTAATCTGTCCCAGTGAGGCCCTTCCCAGCCTTTGTTAGAGTGGGTCTTGCTGAGCTGCTCAGAGAGGGCCCTAGGTCATGATAGGGTCACAGCAGTTGGGGCAAGGAGTAGAAGGCCTGGTGCTCTGACAGAGTTGCTGATCCAGCACATGCCACATGCCTTGGGGTGCTTGGCTCTGCACCTTTTTTACTGCAGGGGGCTGCCAGCTGTGACACCCTGGCCCCTGCCTCTCCTGATGGCCCCTCCCCACCCCAAGGTCCTGGACCAAGACACAGACGCCATTGCAGTCCATGTAGTCAGAGTGCTGACCTGCATCATGAGTGACTCCCCCTCGGCCAAGGTGAGGCTGCTGCACTGCAGCTTTAGTAGGGGTGCGGGGTGGAGTTCAACTGACCATATCCCCAGAACAGGCCTGGCCGGTGGCCATAAGCATCCTGCTCCCTGGAGCAAAGCAGGCGAGCTGGGAGGTGACTGCCCTGCCCTAAAGCTCACTGGGCAGGTGTGGTCGCCAGTCTGTCCTGGGAGCTGCATCTTCTCTGTCAGGGCTGGATGGGGAATGGACACTTGTAGGCCCACCTCCATCTACAGCCTTCTGAGATGTACTCACGTCCCCCCCATCCCTCTGCAGCCCACTGCCCACCAGCACTGTCACCCAGAGGCAGAGCTACGCAAGGGAACCCCAAAACATGATGCCCCTCCAGAGTTTCCAGGGGGTCTGAGTTTGCCCTCCGGCCCATGTATGTGTTCACTTCTTCCCCATACTACCTTACACAGGAGGTGTTTAAGGAGCGCATCGGCTACCCTCACCTGCAGGAGGTTCTGCAGAGCCATGGTCCCCCCACCCATCGGCTGTTGCAAGAGCTGCTCAACATGGTGAGGGAAGGGGCTTGGGACCAGGGTCCCAAAGGCAACCAGAACTGAGTCAGGGTTACCACAGATGGTGAGCTCTCCACCCTGGGGGACCGTATTGACTGCGGCCAGTACATACTGTTACCTGTAGCCTGGCCATGTCTGTTAGTGTCACTGGAATGAGGATTCTGGCCCTGTAGGGGTCCTGGAAGCAACTGCATGTGAGCAAGCCCCAGGATTATCTTAGGAACATGCAGTTAGGGGTTAGGCCAACCCAGGCTGAAAACTAAGGTTGAGGGATTAACAATGCTGAAGGACTCTTAGTAGTAGTGACTGTCATCTGTGCCCCTCTGACTTTCCTGAGCCTCACACACAACCTGTGGGCAGGATGGAGTAGATCATGTTGCTGACTGCTGCCGTAGGCAAGTAAATGGAGCCAGAAAGTCCCACTGTTGACAGGGTGCCACAGCTGACCAGGGACTGTCATTCTCTCCACCCACAGGCTGTGGAGGGTGACCACAGCATGTGCCCACCTCCACCAATCCGCAACGAGCAGCCGGTACTGGTGCTGGCGCAGTGGCTGCCGTCATTGCCCACCGCTGAGCTGCGGCTCTTCCTAGCGCAACGCCTCAGGTGGCTCTGTGACAGCTGCCCTGCCAGCCGTGCCACCTGTGTGCAGGCAGGCCTGGTGGGCTGCCTGTTGGAGACACTCAGCACAGGGCTAGCCCTGGAGGCCCGCTGCCAAGAGCAGCTGCTGGCACTGCTACAAGCACTGGGCCGTGTATCAATAAGGCCCATGGAGCTGCGTCACCTGCTGCGCCCCCGGCCAGGATTGGACTCGGAACCAGGCGGAGCTGAGGCTGGAAAGGCCCGACACGCAGGTGCTGTCATCCGCACATTATCAGGCATGGCCAGGCACCAGGGTCCTGCACGTGCTCTGCGCTACTTTGACCTCACGCCCAGCATGGCGGGCATCATGGTACCCCCTGTACAGCGATGGCCAGGGCCTGGCTTCACCTTTCATGCCTGGCTCTGTCTGCACCCTATGGATACAGCACCTACCCCTGCCCCCACCCGACCACTCCAGCGAAAGCAGCTGTACAGGTGGGTGACTGCCAGGGGCCAGGGACCTCCTGCCAGGGTGAGCAGGAACAAGCAGACATAACTGGCTTGCCTGCCCCCAGCTTCTTTACCAGCAGCGGCTCAGGGTTTGAGGCCTTCTTCACGGCGGCCGGGACCCTGGTGGTGGCTGTGTGCACACGGAAGGAGTATTTGACCATGAGTTTGCCCGAAGTGTCCTTTGCCGACTCTGCCTGGGTGAGACCCCATCCTTCTCATGTGGCCCAGTAGAGAGAGGGGTGCTGAGTCCCAAGTATGGCCTAATGTGAGGCTTCTGTTCTAGCACTGCGTGGCTATCGTCCATGTGCCTGGGCGCCGGCCCTTCAGCCAGAACCTGGTCCATGTCTACAAAGACGGCCATCTGGTCAAGACAGCACCCCTTCGC
AACAGCAAGGTGGGTAGGGCCCAGCCTGGGGGTGAGGGTCTGGAAGCCAGAGGCTAGGGGAGCCACGCATAGGTGCCAGGCTGCTGCTGAGCAAACATGGGCTGGACAGAGTCAGTGTTTTGCAGCTGGTGGGATGGCTTGCAGTTCAGTGGGAGGGTGTGGGGCATGGACAAGGGCCCATCCCTTGGGGCCTCTATAGGACTGGGCTTGAGGCTTAGGACATCTTTGTGCCCCATGGAAGCGGGGCTTGTTATGGAAGGAAGGGAGCTGCTCTGGTGCCTTGTTTCCCTTTCCGTGGCCCCAAGTACAGGGGCTAGAGGAGGGCACCACTGCTTTCAGATGCAGTGCCTGCTCCCACCCGCTCATCCCCCCGACTGCCCATCTGAGCAGGGCACAGGGGGCTCAGCACCCTACTCTTCCCTAGTGCCGGGCAGGGCACCTGGCAGCTGCCCCTGGTCCTGCTCTAACCCCACCCTCTCCCATCTTCCTCCTCTCTTCTTTGCCTCCTCCACCCTGTGCCTCCCCACTTCCCCACAGCTGTACCTGCAGTCCCGGGCGCCCCCCGAGGGGGACAGTGACCTGGCTACCCGGTTACTGACTGAGCCCGATGTCCAAAAGGTACCATCCTGGGGCTGACCAGCTCAGACACCCCCTGGGACTCCCTCTTTGAGCTTTTCCTGCACTATAGCTGGGGAAATGAGCAGATGTGTGTAAGGCCTGGTGTGGTCTAGAAATGGGTGTGGGTCCTCCATGCTGTCTCGCCTGCCTTCCAAGTCCCCATCCTAGGGAACAGGACAGAAGGTGGTCTATCCCCTGCCTGGTGTTTGATTGGGTGTTGGGGGTCTGGCTGTGCCAAGCTGGATGGAACCTTCGAAACTCAGCCACCTACCTCATTTCTCAGAAGGGGAGACAGAAGCCCAGACACTCAAGGATTTGGCTATAGTCACAGAGAAAGGGGTCTCCCTCATGGTGCCATTTCTTTCTGTAGATTCTTGCACCCACCCTCAGCGGGTCACTGGGTGTCCCCCAGCCCCTGATGATGTGATCCCTGATTCACCTTGCATGTGGGCTGTAGGAGGCTGCAGGGTGTCAGCTGGCAGCTTCACAGCGGGCACCCTTTCTGGGGGCTCAACCTGTGGGCCCCAACCTCCATAGCCCCTACCCTGGCTCTGTCTTCATGAGGTAACCCTATGTGTTCACCGCATGTGGTCATTTTCTTAGAGCTTACACGTCTATTCATCTGCAAAGCAGGCAGGGCAAAGTGACTCCCCTCTGTTTTTACAGATGAGGACACTGAGGCCTGGAGGGGGAGGACTGATGCCTTAGGTCACTTGGGGAGTCAGGCAAAGCTGGGACCAAAGGCCCCATGGAGCCGAATATGACCTAGTCCCTGCTGAGAAACTCTCCAAGCCCTCCCAACCCCTGACCCCCTCAGGGTGGGGCAGGAGAGGCAGCAGCATGCCTCTGGCTGTCAGGTTCAGCCAGGCTGAGCCTCAGTGCCCCCACCTGGATCTAGGGGGAAGGGGCAAGGTGGGACTTAAAGGTCTCGAAGGTTCTTCTGGTTCTAACATCCTGTGATTGATTGTCCCTAAATCTCTGACCCCTGTCAATCACTGTGGGTGATGGGGCACTTGCTGGCCTGTCTGTACTCATGTGTCTAGCTTTAGGGAGACAGGTTGGGGGTAGGGCCCTAACTCCACTAGAGAAAGGGGGACTGGAGGGTGCAGTCAGAGTGTCCACCATTAATCTGTCCCAGTGAGGCCCTTCCCAGCCTTTGTTAGAGTGGGTCTTGCTGAGCTGCTCAGAGAGGGCCCTAGGTCATGATAGGGTCACAGCAGTTGGGGCAAGGAGTAGAAGGCCTGGTGCTCTGACAGAGTTGCTGATCCAGCACATGCCACATGCCTTGGGGTGCTTGGCTCTGCACCTTTTTTACTGCAGGGGGCTGCCAGCTGTGACACCCTGGCCCCTGCCTCTCCTGATGGCCCCTCCCCACCCCAAGGTCCTGGACCAAGACACAGACGCCATTGCAGTCCATGTAGTCAGAGTGCCGACCTGCATCATGAGTGACTCCCCCTCGGCCAAGGTGAGGCTGCTGCACTGCAGCTTTAGTAGGGGTGCGGGGTGGAGTTCAACTGACCATATCCCCAGAACAGGCCTGGCCGGTGGCCATAAGCATCCTGCTCCCTGGAGCAAAGCAGGCGAGCTGGGAGGTGACTGCCCTGCCCTAAAGCTCACTGGGCAGGTGTGGTCGCCAGTCTGTCCTGGGAGCTGCATCTTCTCTGTCAGGGCTGGATGGGGAATGGACACTTGTAGGCCCACCTCCATCTACAGCCTTCTGAGATGTACTCACGTCCCCCCCATCCCTCTGCAGCCCACTGCCCACCAGCACTGTCACCCAGAGGCAGAGCTACGCAAGGGAACCCCAAAACATGATGCCCCTCCAGAGTTTCCAGGGGGTCTGAGTTTGCCCTCCGGCCCATGTATGTGTTCACTTCTTCCCCATACTACCTTACACAGGAGGTGTTTAAGGAGCGCATCGGCTACCCTCACCTGCAGGAGGTTCTGCAGAGCCATGGTCCCCCCACCCATCGGCTGTTGCAAGAGCTGCTCAACATGGTGAGGGAAGGGGCTTGGGACCAGGGTCCCAAAGGCAACCAGAACTGAGTCAGGGTTACCACAGATGGTGAGCTCTCCACCCTGGGGGACCGTATTGACTGCGGCCAGTACATACTGTTACCTGTAGCCTGGCCATGTCTGTTAGTGTCACTGGAATGAGGATTCTGGCCCTGTAGGGGTCCTGGAAGCAACTGCATGTGAGCAAGCCCCAGGATTATCTTAGGAACATGCAGTTAGGGGTTAGGCCAACCCAGGCTGAAAACTAAGGTTGAGGGATTAACAATGCTGAAGGACTCTTAGTAGTAGTGACTGTCATCTGTGCCCCTCTGACTTTCCTGAGCCTCACACACAACCTGTGGGCAGGATGGAGTAGATCATGTTGCTGACTGCTGCCGTAGGCAAGTAAATGGAGCCAGAAAGTCCCACTGTTGACAGGGTGCCACAGCTGACCAGGGACTGTCATTCTCTCCACCCACAGGCTGTGGAGGGTGACCACAGCATGTGCCCACCTCCACCAATCCGCAACGAGCAGCCGGTACTGGTGCTGGCGCAGTGGCTGCCGTCATTGCCCACCGCTGAGCTGCGGCTCTTCCTAGCGCAACGCCTCAGGTGGCTCTGTGACAGCTGCCCTGCCAGCCGTGCCACCTGTGTGCAGGCAGGCCTGGTGGGCTGCCTGTTGGAGACACTCAGCACAGGGCTAGCCCTGGAGGCCCGCTGCCAAGAGCAGCTGCTGGCACTGCTACAAGCACTGGGCCGTGTATCAATAAGGCCCATGGAGCTGCGTCACCTGCTGCGCCCCCGGCCAGGATTGGACTCGGAACCAGGCGGAGCTGAGGCTGGAAAGGCCCGACACGCAGGTGCTGTCATCCGCACATTATCAGGCATGGCCAGGCACCAGGGTCCTGCACGTGCTCTGCGCTACTTTGACCTCACGCCCAGCATGGCGGGCATCATGGTACCCCCTGTACAGCGATGGCCAGGGCCTGGCTTCACCTTTCATGCCTGGCTCTGTCTGCACCCTATGGATACAGCACCTACCCCTGCCCCCACCCGACCACTCCAGCGAAAGCAGCTGTACAGGTGGGTGACTGCCAGGGGCCAGGGACCTCCTGCCAGGGTGAGCAGGAACAAGCAGACATAACTGGCTTGCCTGCCCCCAGCTTCTTTACCAGCAGCGGCTCAGGGTTTGAGGCCTTCTTCACGGCGGCCGGGACCCTGGTGGTGGCTGTGTGCACACGGAAGGAGTATTTGACCATGAGTTTGCCCGAAGTGTCCTTTGCCGACTCTGCCTGGGTGAGACCCCATCCTTCTCATGTGGCCCAGTAGAGAGAGGGGTGCTGAGTCCCAAGTATGGCCTAATGTGAGGCTTCTGTTCTAGCACTGCGTGGCTATCGTCCATGTGCCTGGGCGCCGGCCCTTCAGCCAGAACCTGGTCCATGTCTACAAAGACGGCCATCTGGTCAAGACAGCACCCCTTCGC
Task1_train_6720
Gene NBEAL2 (neurobeachin like 2), found on Chromosome 3, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; Gray platelet syndrome
GAGGCCCTTCCCAGCCTTTGTTAGAGTGGGTCTTGCTGAGCTGCTCAGAGAGGGCCCTAGGTCATGATAGGGTCACAGCAGTTGGGGCAAGGAGTAGAAGGCCTGGTGCTCTGACAGAGTTGCTGATCCAGCACATGCCACATGCCTTGGGGTGCTTGGCTCTGCACCTTTTTTACTGCAGGGGGCTGCCAGCTGTGACACCCTGGCCCCTGCCTCTCCTGATGGCCCCTCCCCACCCCAAGGTCCTGGACCAAGACACAGACGCCATTGCAGTCCATGTAGTCAGAGTGCTGACCTGCATCATGAGTGACTCCCCCTCGGCCAAGGTGAGGCTGCTGCACTGCAGCTTTAGTAGGGGTGCGGGGTGGAGTTCAACTGACCATATCCCCAGAACAGGCCTGGCCGGTGGCCATAAGCATCCTGCTCCCTGGAGCAAAGCAGGCGAGCTGGGAGGTGACTGCCCTGCCCTAAAGCTCACTGGGCAGGTGTGGTCGCCAGTCTGTCCTGGGAGCTGCATCTTCTCTGTCAGGGCTGGATGGGGAATGGACACTTGTAGGCCCACCTCCATCTACAGCCTTCTGAGATGTACTCACGTCCCCCCCATCCCTCTGCAGCCCACTGCCCACCAGCACTGTCACCCAGAGGCAGAGCTACGCAAGGGAACCCCAAAACATGATGCCCCTCCAGAGTTTCCAGGGGGTCTGAGTTTGCCCTCCGGCCCATGTATGTGTTCACTTCTTCCCCATACTACCTTACACAGGAGGTGTTTAAGGAGCGCATCGGCTACCCTCACCTGCAGGAGGTTCTGCAGAGCCATGGTCCCCCCACCCATCGGCTGTTGCAAGAGCTGCTCAACATGGTGAGGGAAGGGGCTTGGGACCAGGGTCCCAAAGGCAACCAGAACTGAGTCAGGGTTACCACAGATGGTGAGCTCTCCACCCTGGGGGACCGTATTGACTGCGGCCAGTACATACTGTTACCTGTAGCCTGGCCATGTCTGTTAGTGTCACTGGAATGAGGATTCTGGCCCTGTAGGGGTCCTGGAAGCAACTGCATGTGAGCAAGCCCCAGGATTATCTTAGGAACATGCAGTTAGGGGTTAGGCCAACCCAGGCTGAAAACTAAGGTTGAGGGATTAACAATGCTGAAGGACTCTTAGTAGTAGTGACTGTCATCTGTGCCCCTCTGACTTTCCTGAGCCTCACACACAACCTGTGGGCAGGATGGAGTAGATCATGTTGCTGACTGCTGCCGTAGGCAAGTAAATGGAGCCAGAAAGTCCCACTGTTGACAGGGTGCCACAGCTGACCAGGGACTGTCATTCTCTCCACCCACAGGCTGTGGAGGGTGACCACAGCATGTGCCCACCTCCACCAATCCGCAACGAGCAGCCGGTACTGGTGCTGGCGCAGTGGCTGCCGTCATTGCCCACCGCTGAGCTGCGGCTCTTCCTAGCGCAACGCCTCAGGTGGCTCTGTGACAGCTGCCCTGCCAGCCGTGCCACCTGTGTGCAGGCAGGCCTGGTGGGCTGCCTGTTGGAGACACTCAGCACAGGGCTAGCCCTGGAGGCCCGCTGCCAAGAGCAGCTGCTGGCACTGCTACAAGCACTGGGCCGTGTATCAATAAGGCCCATGGAGCTGCGTCACCTGCTGCGCCCCCGGCCAGGATTGGACTCGGAACCAGGCGGAGCTGAGGCTGGAAAGGCCCGACACGCAGGTGCTGTCATCCGCACATTATCAGGCATGGCCAGGCACCAGGGTCCTGCACGTGCTCTGCGCTACTTTGACCTCACGCCCAGCATGGCGGGCATCATGGTACCCCCTGTACAGCGATGGCCAGGGCCTGGCTTCACCTTTCATGCCTGGCTCTGTCTGCACCCTATGGATACAGCACCTACCCCTGCCCCCACCCGACCACTCCAGCGAAAGCAGCTGTACAGGTGGGTGACTGCCAGGGGCCAGGGACCTCCTGCCAGGGTGAGCAGGAACAAGCAGACATAACTGGCTTGCCTGCCCCCAGCTTCTTTACCAGCAGCGGCTCAGGGTTTGAGGCCTTCTTCACGGCGGCCGGGACCCTGGTGGTGGCTGTGTGCACACGGAAGGAGTATTTGACCATGAGTTTGCCCGAAGTGTCCTTTGCCGACTCTGCCTGGGTGAGACCCCATCCTTCTCATGTGGCCCAGTAGAGAGAGGGGTGCTGAGTCCCAAGTATGGCCTAATGTGAGGCTTCTGTTCTAGCACTGCGTGGCTATCGTCCATGTGCCTGGGCGCCGGCCCTTCAGCCAGAACCTGGTCCATGTCTACAAAGACGGCCATCTGGTCAAGACAGCACCCCTTCGCTGCCCCTCCCTCAGTGAGGTGTGCCAAGCAAGGTTTGGGGAGGCCTTGGGTAGATGGGAGGACTTGGAACACAGTGGGCAGGTGTAGCCTGGAGCCCTTGTGTCCCGTGCTGCCCCACAGGCCTGACTTTAGCCACTGGGGTCCATGCAGCCATGGGGGTCACTGTGAGGAACTGGTTGTAGGCGGAGCCCCAGGTTCTGCTGTGACCTGACCGCTCCCCCAACCCCGGCCCCACAGCCTTTCTCCTCCTGCTGTATCGGCTCCGCTGGATACCGCACAACGACCACCACCACAGGGCTGCCCACACCACCAGTCCCCGCCACCCTGGCCTACACTCACCCCGCCCTCACCCGCTCCCAGTCAGTCCCAGCCTCCACAGGGCTTGGCTGGGGGTCCGGGCTGGTGGCCCCCCTGCAGGAGGGCAGCATCGACTCTACCCTCGCAGGCACCCAGGACACTCGGTGGGGCAGCCCCACATCCCTGGAGGGTGAGCTGGGGGCTGTGGCCATCTTTCACGAAGCCCTGCAGGCGACGGCTCTGAGGACCCTGTGCACCCTGGGTATGCAGCATTCTCCATCTCTGCCACAGCCCCAGGCCAGAAGCTAGGGGTCCGGGGGGAGAAGGCATCTCTGGGGGTCTCTCCTGTGGTCAGGCAGTCTCTGGATGGGGTTTGGCCAGAGGCCTAGCAAGGTCTGAAGCCCCCTGCCCACCTCCCAGGGCCCAATGAGACGGCACCCTTCAAGCCTGAGGGGGAGCTGCATGAGCTCAGCACCAGGCTGCTCCTCCATTACTCACCTCAGGTATTTGGGGGCCCCAGGGGAGTGGTTGGCTCGACTGTGCTACTTCCCCGGCTCCCACACTCTGCCTGCCACCCCCTCCTCCCTCTGACCCTGGCTGCCTGCCCATTCCCCTATCCCTAGGCTTGTAAGAACAACATCTGCCTGGACCTGTCCCCCAGTCATGGGCTTGATGGGCGCCTGACGGGCCACAGAGTGGAGACCTGGGATGTGAAGGTCTGTGAGCACGTGTGGGTGGTGTGTGCAGGAGGCATGAATATGGGGCACATGTGTGTTCGGAGTCAGCTGGGGAGCAGCGCTGTGCCTGGGGAGGATTTGGACAGTCCAGCTCAAGAGAGCAAAACTTCCTTTCTGGGTGGTCTGCTGGGGTGGAGTAGGGCAGGAAACTGGCTGGAAGGTCCCCCTCACTGCCATCCTCCTTCCCCCAGGATGTGGTGAACTGCGTTGGGGGTATGGGTGCCCTGCTGCCCCTGCTGGAGCGAGTAGCTGCACAGCCCAAAGAGGCTGAAGCAGGTCCAGCTGAAACGCATGACCTCGTGGGTCCTGAACTGACCTCTGGTCACAACACCCAGGGCCTGGTTCTCCCATTGGGTAAATCTTCAGGTAAGTGTTCCTGGTGCCTATGTTGTGGAGAGGGAATCTTGGCATGGTAGGGGGGTGGAATGCCCAAGGTCTCCTGGCCACTGGCAGGCCCTTGACACACATCTGTCCCCTTCCTGATGGCTGGCAGAGGAACGGATGGAGAGGAACGCAGTGGCTGCTTTTCTGCTGATGCTGCGGAACTTCCTTCAGGGTCACATGGTGAACCAAGAGAGCCTGGTGCAGTGCCAGGGGCCTGCCATCATCGGGGCCCTCCTGCGAAAGGTGGGGCCCGGTGGGACAGGCATGGGGGTTAGGGGTATGGTCAGCCTGTCTGACCGAGGGGACTGAGTGGGGAACCCTGTCAGTCATGAAGAACCT
GAGGCCCTTCCCAGCCTTTGTTAGAGTGGGTCTTGCTGAGCTGCTCAGAGAGGGCCCTAGGTCATGATAGGGTCACAGCAGTTGGGGCAAGGAGTAGAAGGCCTGGTGCTCTGACAGAGTTGCTGATCCAGCACATGCCACATGCCTTGGGGTGCTTGGCTCTGCACCTTTTTTACTGCAGGGGGCTGCCAGCTGTGACACCCTGGCCCCTGCCTCTCCTGATGGCCCCTCCCCACCCCAAGGTCCTGGACCAAGACACAGACGCCATTGCAGTCCATGTAGTCAGAGTGCTGACCTGCATCATGAGTGACTCCCCCTCGGCCAAGGTGAGGCTGCTGCACTGCAGCTTTAGTAGGGGTGCGGGGTGGAGTTCAACTGACCATATCCCCAGAACAGGCCTGGCCGGTGGCCATAAGCATCCTGCTCCCTGGAGCAAAGCAGGCGAGCTGGGAGGTGACTGCCCTGCCCTAAAGCTCACTGGGCAGGTGTGGTCGCCAGTCTGTCCTGGGAGCTGCATCTTCTCTGTCAGGGCTGGATGGGGAATGGACACTTGTAGGCCCACCTCCATCTACAGCCTTCTGAGATGTACTCACGTCCCCCCCATCCCTCTGCAGCCCACTGCCCACCAGCACTGTCACCCAGAGGCAGAGCTACGCAAGGGAACCCCAAAACATGATGCCCCTCCAGAGTTTCCAGGGGGTCTGAGTTTGCCCTCCGGCCCATGTATGTGTTCACTTCTTCCCCATACTACCTTACACAGGAGGTGTTTAAGGAGCGCATCGGCTACCCTCACCTGCAGGAGGTTCTGCAGAGCCATGGTCCCCCCACCCATCGGCTGTTGCAAGAGCTGCTCAACATGGTGAGGGAAGGGGCTTGGGACCAGGGTCCCAAAGGCAACCAGAACTGAGTCAGGGTTACCACAGATGGTGAGCTCTCCACCCTGGGGGACCGTATTGACTGCGGCCAGTACATACTGTTACCTGTAGCCTGGCCATGTCTGTTAGTGTCACTGGAATGAGGATTCTGGCCCTGTAGGGGTCCTGGAAGCAACTGCATGTGAGCAAGCCCCAGGATTATCTTAGGAACATGCAGTTAGGGGTTAGGCCAACCCAGGCTGAAAACTAAGGTTGAGGGATTAACAATGCTGAAGGACTCTTAGTAGTAGTGACTGTCATCTGTGCCCCTCTGACTTTCCTGAGCCTCACACACAACCTGTGGGCAGGATGGAGTAGATCATGTTGCTGACTGCTGCCGTAGGCAAGTAAATGGAGCCAGAAAGTCCCACTGTTGACAGGGTGCCACAGCTGACCAGGGACTGTCATTCTCTCCACCCACAGGCTGTGGAGGGTGACCACAGCATGTGCCCACCTCCACCAATCCGCAACGAGCAGCCGGTACTGGTGCTGGCGCAGTGGCTGCCGTCATTGCCCACCGCTGAGCTGCGGCTCTTCCTAGCGCAACGCCTCAGGTGGCTCTGTGACAGCTGCCCTGCCAGCCGTGCCACCTGTGTGCAGGCAGGCCTGGTGGGCTGCCTGTTGGAGACACTCAGCACAGGGCTAGCCCTGGAGGCCCGCTGCCAAGAGCAGCTGCTGGCACTGCTACAAGCACTGGGCCGTGTATCAATAAGGCCCATGGAGCTGCGTCACCTGCTGCGCCCCCGGCCAGGATTGGACTCGGAACCAGGCGGAGCTGAGGCTGGAAAGGCCCGACACGCAGGTGCTGTCATCCGCACATTATCAGGCATGGCCAGGCACCAGGGTCCTGCACGTGCTCTGCGCTACTTTGACCTCACGCCCAGCATGGCGGGCATCATGGTACCCCCTGTACAGCGATGGCCAGGGCCTGGCTTCACCTTTCATGCCTGGCTCTGTCTGCACCCTATGGATACAGCACCTACCCCTGCCCCCACCCGACCACTCCAGCGAAAGCAGCTGTACAGGTGGGTGACTGCCAGGGGCCAGGGACCTCCTGCCAGGGTGAGCAGGAACAAGCAGACATAACTGGCTTGCCTGCCCCCAGCTTCTTTACCAGCAGCGGCTCAGGGTTTGTGGCCTTCTTCACGGCGGCCGGGACCCTGGTGGTGGCTGTGTGCACACGGAAGGAGTATTTGACCATGAGTTTGCCCGAAGTGTCCTTTGCCGACTCTGCCTGGGTGAGACCCCATCCTTCTCATGTGGCCCAGTAGAGAGAGGGGTGCTGAGTCCCAAGTATGGCCTAATGTGAGGCTTCTGTTCTAGCACTGCGTGGCTATCGTCCATGTGCCTGGGCGCCGGCCCTTCAGCCAGAACCTGGTCCATGTCTACAAAGACGGCCATCTGGTCAAGACAGCACCCCTTCGCTGCCCCTCCCTCAGTGAGGTGTGCCAAGCAAGGTTTGGGGAGGCCTTGGGTAGATGGGAGGACTTGGAACACAGTGGGCAGGTGTAGCCTGGAGCCCTTGTGTCCCGTGCTGCCCCACAGGCCTGACTTTAGCCACTGGGGTCCATGCAGCCATGGGGGTCACTGTGAGGAACTGGTTGTAGGCGGAGCCCCAGGTTCTGCTGTGACCTGACCGCTCCCCCAACCCCGGCCCCACAGCCTTTCTCCTCCTGCTGTATCGGCTCCGCTGGATACCGCACAACGACCACCACCACAGGGCTGCCCACACCACCAGTCCCCGCCACCCTGGCCTACACTCACCCCGCCCTCACCCGCTCCCAGTCAGTCCCAGCCTCCACAGGGCTTGGCTGGGGGTCCGGGCTGGTGGCCCCCCTGCAGGAGGGCAGCATCGACTCTACCCTCGCAGGCACCCAGGACACTCGGTGGGGCAGCCCCACATCCCTGGAGGGTGAGCTGGGGGCTGTGGCCATCTTTCACGAAGCCCTGCAGGCGACGGCTCTGAGGACCCTGTGCACCCTGGGTATGCAGCATTCTCCATCTCTGCCACAGCCCCAGGCCAGAAGCTAGGGGTCCGGGGGGAGAAGGCATCTCTGGGGGTCTCTCCTGTGGTCAGGCAGTCTCTGGATGGGGTTTGGCCAGAGGCCTAGCAAGGTCTGAAGCCCCCTGCCCACCTCCCAGGGCCCAATGAGACGGCACCCTTCAAGCCTGAGGGGGAGCTGCATGAGCTCAGCACCAGGCTGCTCCTCCATTACTCACCTCAGGTATTTGGGGGCCCCAGGGGAGTGGTTGGCTCGACTGTGCTACTTCCCCGGCTCCCACACTCTGCCTGCCACCCCCTCCTCCCTCTGACCCTGGCTGCCTGCCCATTCCCCTATCCCTAGGCTTGTAAGAACAACATCTGCCTGGACCTGTCCCCCAGTCATGGGCTTGATGGGCGCCTGACGGGCCACAGAGTGGAGACCTGGGATGTGAAGGTCTGTGAGCACGTGTGGGTGGTGTGTGCAGGAGGCATGAATATGGGGCACATGTGTGTTCGGAGTCAGCTGGGGAGCAGCGCTGTGCCTGGGGAGGATTTGGACAGTCCAGCTCAAGAGAGCAAAACTTCCTTTCTGGGTGGTCTGCTGGGGTGGAGTAGGGCAGGAAACTGGCTGGAAGGTCCCCCTCACTGCCATCCTCCTTCCCCCAGGATGTGGTGAACTGCGTTGGGGGTATGGGTGCCCTGCTGCCCCTGCTGGAGCGAGTAGCTGCACAGCCCAAAGAGGCTGAAGCAGGTCCAGCTGAAACGCATGACCTCGTGGGTCCTGAACTGACCTCTGGTCACAACACCCAGGGCCTGGTTCTCCCATTGGGTAAATCTTCAGGTAAGTGTTCCTGGTGCCTATGTTGTGGAGAGGGAATCTTGGCATGGTAGGGGGGTGGAATGCCCAAGGTCTCCTGGCCACTGGCAGGCCCTTGACACACATCTGTCCCCTTCCTGATGGCTGGCAGAGGAACGGATGGAGAGGAACGCAGTGGCTGCTTTTCTGCTGATGCTGCGGAACTTCCTTCAGGGTCACATGGTGAACCAAGAGAGCCTGGTGCAGTGCCAGGGGCCTGCCATCATCGGGGCCCTCCTGCGAAAGGTGGGGCCCGGTGGGACAGGCATGGGGGTTAGGGGTATGGTCAGCCTGTCTGACCGAGGGGACTGAGTGGGGAACCCTGTCAGTCATGAAGAACCT
Task1_train_6721
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.
Pathogenic; Gray platelet syndrome
CGACCCATGACCTGGGGGACATTCTGCAGGGACACTCCCATCCCCCGCTGGAAACTGTCCAGCGCCGAGACATATTCACGCATGCGTCTGAAGCTGGTGCCCAACCATCACTTCGACCCTCACCTGGAAGCCAGCGCTCTCCGAGACAATCTGGGTGAGGGAGTGTGCTGAGATGGGTCCACCCAACTCGATTGTCCCGTCTCCTGTCCTGCCTTGCTTCTGCTGAGTACCCTTGGCCCCTTGCAGGTGAGGTTCCCCTGACACCCACCGAGGAGGCCTCACTGCCTCTGGCAGTGACCAAAGAGGCCAAAGTGAGCACCCCACCCGAGTTGCTGCAGGAGGACCAGCTCGGCGAGGACGAGCTGGCTGAGCTGGAGACCCCGTGAGTGGGGCCCTGGAGAGATTGGACTGGTGTGGTGGGCAAGGGGTCTGCTCCAGTGTGTGCATGCCTCTGTGGGATCAACTCCCTGAGTGTGTCCTCTTCTGCTGCCCGACTACGTCCCCCTGAAGGGACTGTCCAAAGCCAGATGGTGAGTGGGAGAGTCTCCTAACAGGGCTGAGAGTTGCTCTTTTAACAGCCAGGCACCTGAGGACAGCACTGAGAAACACAAACCAGAGCAGGAAGGGGGCCCAGGGAGTGGGCAGGGGCTGGGTGAGGGGAGCAGGGGACAAGGGTTGGCATCCTGGCAAAATATTCAGAAGCCCAGTGGGTGGCAGGTGGGGGACAGGGGCTGGGACCAGTAGGTTCTGGACCCTAGGCAGCCCCTCCCCATCTCTGGGAGTCATGAGAGTATATACCCCATGACTCAATGGCACTTGGATGCCCTTTGGGCTTGTGAAGAAGGGGGTCCCAGAGCCTACAGCGTGAGGTGGGTTGCTGGTCTTTAGGATGGAGGCAGCAGAACTGGATGAGCAGCGTGAGAAGCTGGTGCTGTCGGCCGAGTGCCAGCTGGTGACGGTAGTGGCCGTGGTCCCAGGGCTGCTGGAGGTCACCACACAGAATGTATACTTCTACGATGGCAGCACTGAGCGCGTGGAAACCGAGGAGGGTGCGTCCTGGTGGTGTGGTTTAGGAGGATGGCAGGGAATGGCTGAGCTCTGGGTGGGGCTGGGGTGAGTGACTCCCGTACCTGCTGTTCCTCCCCATAGGCATCGGCTATGATTTCCGGCGCCCACTGGCCCAGCTGCGTGAGGTCCACCTGCGGCGTTTCAACCTGCGCCGTTCAGCACTTGAGCTCTTCTTTATCGATCAGGCCAACTACTTCCTCAACTTCCCATGCAAGGTGGGCACGACCCCAGTCTCATCTCCTAGCCAGACTCCCAGACCCCAGCCTGGCCCCATCCCACCCCATACCCAGGTACGGAACCAGGTGTACTCGTGGCTCCTGCGCCTACGGCCCCCCTCTCAAGGCTACCTAAGCAGCCGCTCCCCCCAGGAGATGCTGCGTGCCTCAGGCCTTACCCAGGTGAGAGCCCTGGGTGTGAGGGATGTGAAGTCGGGACCCTGAATCACGGGGCAGTGCTGGACAGCCCACCTGGCTCACATCTTGTCTGCCCCTGTCCCCAGAAATGGGTACAGCGTGAGATATCCAACTTCGAGTACTTGATGCAACTCAACACCATTGCGGGGCGGACCTACAATGACCTGTCTCAGTACCCTGTGGTGAGGGTCCCACTCTGCACCCCTCCACCCCTGCCCCTCTGACCTGTCAGCCCTTGGTTCCCCCAAGTGTAGGTACCTGCCAGTGGGCCAAGCTCTGAGCTTGGTCAAGGGTAGATGTGCCAATGAAGACCTGGCCTCTGTTCCCTGCCAACCCCCAGAGGTCCCCAGCCTCACTCCCTTCCCCTCCCTGCCTAGCCTCTATTCCTCAAAAGGAATCCTGTTCCAGGACACTCTGTCCTTCTCCCCTGTGACCCCTCTAAGTGGTGCTCCCCCAACCTGTGGGCAGGCTCTGTGCCCGCCTTCTTGAGGGTGTGGGCAGGGCAGGGTGGGCTGGTAGGCCATCAGGGCCCTCATGCAGCCCCTGCTCGGGTGGGTGGCCAGTTCCCCTGGGTCCTGCAGGACTACGTGTCCCCAACCCTGGACCTCAGCAACCCAGCCGTCTTCCGGGACCTGTCTAAGCCCATCGGTGTGGTGAACCCCAAGCATGCCCAGCTCGTGAGGGAGAAGTGAGCATGTGGGCAGGGCTGGGCTCAGCGGGTAGGGAAAGGCGAGGGGAGGGCTTCTGCTGACACGTCCAACTGTGGCCCCAGGTATGAAAGCTTTGAGGACCCAGCAGGGACCATTGACAAGTTCCACTATGGCACCCACTACTCCAATGCAGCAGGCGTGATGCACTACCTCATCCGCGTGGAGCCCTTCACCTCCCTGCACGTCCAGCTGCAAAGTGGCCGGTGCGGCCCAGGGGCTGGTGGGCAGACTAGGGGGCAGATAAGGGGAGGAGGCTGGTCCTCCCCACATCCTGGGCCCACCCCTGGCTCCCTTCTTCCCTCCAGCCACAGCATCTCCCTCCCTGTCTCCATTCTCCCCACCTCACCTTGGCCCCGTGCCCCTCCCCCAGCTTTGACTGCTCCGACCGGCAGTTCCACTCGGTGGCGGCAGCCTGGCAGGCACGCCTGGAGAGCCCTGCCGATGTGAAGGAGCTCATCCCGGAATTCTTCTACTTTCCTGACTTCCTGGAGAACCAGAACGGTAGGTGTGAGGTGCTCACACTGGAGCGGGCAGGTGTAGGGATGGAGAGCAGATGGTGGAGTGGCCAGGGGGCAGTCGGGATGGACAGGGAGACAGCTGACCCAGTCCTCTGTGCCAGGTTTTGACCTGGGCTGTCTCCAGCTGACCAACGAGAAGGTAGGCGATGTGGTGCTACCCCCGTGGGCCAGCTCTCCTGAGGACTTCATCCAGCAGCACCGCCAGGCTCTGGTGAGGAAGGAACCACAGGCAAACGGCAGGCAGCCGGGGTTCTGAAGATCATGGGGGGTCAGCTGTCCCTGCACTGATTGCTGCCTCCCTACTCTCAGGAGTCGGAGTATGTGTCTGCACACCTACACGAGTGGATCGACCTCATCTTTGGCTACAAGCAGCGGGGGCCAGCCGCCGAGGAGGCCCTCAATGTCTTCTATTACTGCACCTATGAGGGTGGGCAGTGCGCTGGACTCCAGTCAGGGCCAGGACAAGATCAGGTCGGGTGGATGCAGAGGGCACGCAGGGAGCCCTGACTGCTCTGCCTGCCTTCCCAGGGGCTGTAGACCTGGACCATGTGACAGATGAGCGGGAACGGAAGGCTCTGGAGGGCATTATCAGCAACTTTGGGCAGACTCCCTGTCAGCTGCTGAAGGTAAGGCCAGCTTAGAGGATAGTGGCCAGGGATGCCCATGCCATGGTGCTGACCAGCCACTTACCCACAGGAGCCACATCCAACTCGGCTCTCAGCTGAGGAAGCAGCCCATCGCCTTGCACGCCTGGACACTAACTCACCTAGCATCTTCCAGCACCTGGACGAACTCAAGGCATTCTTCGCAGAGGTGAAAGGAAGACAAGACCTCAACTTTATATTCTGTGAAATGGGTTTAACCCCACTGTCCTTACCAACCACGTGGGGCAGATGGGAATCCTAATCAAGGTCACTGATTTCAAGGCACCTTAGAAAATGAGCTAAACATGGGAAGAGTATGGGGGCAGGAGGGGTGCCTTCTTCATCAGGGCCAGGATAAAGTGTCGACTCAACAAGCTCTGAAAGCCTTAGGGAGATCAGGAGGGAGATCTGTCCTTGGACCCCTTCCATCGCCTTCCTAGACAGGAACATTCCTGAATGTTGCCCCCAGGCCTGACTTTTTTTTTAGGTTTCCCTCTCTTCCTGCCTTTGGGCTAGGGGGACAAGGAATAACAGGGTGAGAGGACCAAGTTGAAACTAAGTGTGATACTCTGGAAGCATCTTCCATGTCTGTCCCAGCTTCTCACCCACTTTCTGAGATGCCCTCCTAAAGTCTCTGCCTGTTTCTTGGAGGGAACCTCTGCATCTGTGACACCTACTCTATGACCCCTGGGGACTGACAGTAAAGGAAGGGATGATGCTTCAGGGAGCAGATAGTGTAATCT
CGACCCATGACCTGGGGGACATTCTGCAGGGACACTCCCATCCCCCGCTGGAAACTGTCCAGCGCCGAGACATATTCACGCATGCGTCTGAAGCTGGTGCCCAACCATCACTTCGACCCTCACCTGGAAGCCAGCGCTCTCCGAGACAATCTGGGTGAGGGAGTGTGCTGAGATGGGTCCACCCAACTCGATTGTCCCGTCTCCTGTCCTGCCTTGCTTCTGCTGAGTACCCTTGGCCCCTTGCAGGTGAGGTTCCCCTGACACCCACCGAGGAGGCCTCACTGCCTCTGGCAGTGACCAAAGAGGCCAAAGTGAGCACCCCACCCGAGTTGCTGCAGGAGGACCAGCTCGGCGAGGACGAGCTGGCTGAGCTGGAGACCCCGTGAGTGGGGCCCTGGAGAGATTGGACTGGTGTGGTGGGCAAGGGGTCTGCTCCAGTGTGTGCATGCCTCTGTGGGATCAACTCCCTGAGTGTGTCCTCTTCTGCTGCCCGACTACGTCCCCCTGAAGGGACTGTCCAAAGCCAGATGGTGAGTGGGAGAGTCTCCTAACAGGGCTGAGAGTTGCTCTTTTAACAGCCAGGCACCTGAGGACAGCACTGAGAAACACAAACCAGAGCAGGAAGGGGGCCCAGGGAGTGGGCAGGGGCTGGGTGAGGGGAGCAGGGGACAAGGGTTGGCATCCTGGCAAAATATTCAGAAGCCCAGTGGGTGGCAGGTGGGGGACAGGGGCTGGGACCAGTAGGTTCTGGACCCTAGGCAGCCCCTCCCCATCTCTGGGAGTCATGAGAGTATATACCCCATGACTCAATGGCACTTGGATGCCCTTTGGGCTTGTGAAGAAGGGGGTCCCAGAGCCTACAGCGTGAGGTGGGTTGCTGGTCTTTAGGATGGAGGCAGCAGAACTGGATGAGCAGCGTGAGAAGCTGGTGCTGTCGGCCGAGTGCCAGCTGGTGACGGTAGTGGCCGTGGTCCCAGGGCTGCTGGAGGTCACCACACAGAATGTATACTTCTACGATGGCAGCACTGAGCGCGTGGAAACCGAGGAGGGTGCGTCCTGGTGGTGTGGTTTAGGAGGATGGCAGGGAATGGCTGAGCTCTGGGTGGGGCTGGGGTGAGTGACTCCCGTACCTGCTGTTCCTCCCCATAGGCATCGGCTATGATTTCCGGCGCCCACTGGCCCAGCTGCGTGAGGTCCACCTGCGGCGTTTCAACCTGCGCCGTTCAGCACTTGAGCTCTTCTTTATCGATCAGGCCAACTACTTCCTCAACTTCCCATGCAAGGTGGGCACGACCCCAGTCTCATCTCCTAGCCAGACTCCCAGACCCCAGCCTGGCCCCATCCCACCCCATACCCAGGTACGGAACCAGGTGTACTCGTGGCTCCTGCGCCTACGGCCCCCCTCTCAAGGCTACCTAAGCAGCCGCTCCCCCCAGGAGATGCTGCGTGCCTCAGGCCTTACCCAGGTGAGAGCCCTGGGTGTGAGGGATGTGAAGTCGGGACCCTGAATCACGGGGCAGTGCTGGACAGCCCACCTGGCTCACATCTTGTCTGCCCCTGTCCCCAGAAATGGGTACAGCGTGAGATATCCAACTTCGAGTACTTGATGCAACTCAACACCATTGCGGGGCGGACCTACAATGACCTGTCTCAGTACCCTGTGGTGAGGGTCCCACTCTGCACCCCTCCACCCCTGCCCCTCTGACCTGTCAGCCCTTGGTTCCCCCAAGTGTAGGTACCTGCCAGTGGGCCAAGCTCTGAGCTTGGTCAAGGGTAGATGTGCCAATGAAGACCTGGCCTCTGTTCCCTGCCAACCCCCAGAGGTCCCCAGCCTCACTCCCTTCCCCTCCCTGCCTAGCCTCTATTCCTCAAAAGGAATCCTGTTCCAGGACACTCTGTCCTTCTCCCCTGTGACCCCTCTAAGTGGTGCTCCCCCAACCTGTGGGCAGGCTCTGTGCCCGCCTTCTTGAGGGTGTGGGCAGGGCAGGGTGGGCTGGTAGGCCATCAGGGCCCTCATGCAGCCCCTGCTCGGGTGGGTGGCCAGTTCCTCTGGGTCCTGCAGGACTACGTGTCCCCAACCCTGGACCTCAGCAACCCAGCCGTCTTCCGGGACCTGTCTAAGCCCATCGGTGTGGTGAACCCCAAGCATGCCCAGCTCGTGAGGGAGAAGTGAGCATGTGGGCAGGGCTGGGCTCAGCGGGTAGGGAAAGGCGAGGGGAGGGCTTCTGCTGACACGTCCAACTGTGGCCCCAGGTATGAAAGCTTTGAGGACCCAGCAGGGACCATTGACAAGTTCCACTATGGCACCCACTACTCCAATGCAGCAGGCGTGATGCACTACCTCATCCGCGTGGAGCCCTTCACCTCCCTGCACGTCCAGCTGCAAAGTGGCCGGTGCGGCCCAGGGGCTGGTGGGCAGACTAGGGGGCAGATAAGGGGAGGAGGCTGGTCCTCCCCACATCCTGGGCCCACCCCTGGCTCCCTTCTTCCCTCCAGCCACAGCATCTCCCTCCCTGTCTCCATTCTCCCCACCTCACCTTGGCCCCGTGCCCCTCCCCCAGCTTTGACTGCTCCGACCGGCAGTTCCACTCGGTGGCGGCAGCCTGGCAGGCACGCCTGGAGAGCCCTGCCGATGTGAAGGAGCTCATCCCGGAATTCTTCTACTTTCCTGACTTCCTGGAGAACCAGAACGGTAGGTGTGAGGTGCTCACACTGGAGCGGGCAGGTGTAGGGATGGAGAGCAGATGGTGGAGTGGCCAGGGGGCAGTCGGGATGGACAGGGAGACAGCTGACCCAGTCCTCTGTGCCAGGTTTTGACCTGGGCTGTCTCCAGCTGACCAACGAGAAGGTAGGCGATGTGGTGCTACCCCCGTGGGCCAGCTCTCCTGAGGACTTCATCCAGCAGCACCGCCAGGCTCTGGTGAGGAAGGAACCACAGGCAAACGGCAGGCAGCCGGGGTTCTGAAGATCATGGGGGGTCAGCTGTCCCTGCACTGATTGCTGCCTCCCTACTCTCAGGAGTCGGAGTATGTGTCTGCACACCTACACGAGTGGATCGACCTCATCTTTGGCTACAAGCAGCGGGGGCCAGCCGCCGAGGAGGCCCTCAATGTCTTCTATTACTGCACCTATGAGGGTGGGCAGTGCGCTGGACTCCAGTCAGGGCCAGGACAAGATCAGGTCGGGTGGATGCAGAGGGCACGCAGGGAGCCCTGACTGCTCTGCCTGCCTTCCCAGGGGCTGTAGACCTGGACCATGTGACAGATGAGCGGGAACGGAAGGCTCTGGAGGGCATTATCAGCAACTTTGGGCAGACTCCCTGTCAGCTGCTGAAGGTAAGGCCAGCTTAGAGGATAGTGGCCAGGGATGCCCATGCCATGGTGCTGACCAGCCACTTACCCACAGGAGCCACATCCAACTCGGCTCTCAGCTGAGGAAGCAGCCCATCGCCTTGCACGCCTGGACACTAACTCACCTAGCATCTTCCAGCACCTGGACGAACTCAAGGCATTCTTCGCAGAGGTGAAAGGAAGACAAGACCTCAACTTTATATTCTGTGAAATGGGTTTAACCCCACTGTCCTTACCAACCACGTGGGGCAGATGGGAATCCTAATCAAGGTCACTGATTTCAAGGCACCTTAGAAAATGAGCTAAACATGGGAAGAGTATGGGGGCAGGAGGGGTGCCTTCTTCATCAGGGCCAGGATAAAGTGTCGACTCAACAAGCTCTGAAAGCCTTAGGGAGATCAGGAGGGAGATCTGTCCTTGGACCCCTTCCATCGCCTTCCTAGACAGGAACATTCCTGAATGTTGCCCCCAGGCCTGACTTTTTTTTTAGGTTTCCCTCTCTTCCTGCCTTTGGGCTAGGGGGACAAGGAATAACAGGGTGAGAGGACCAAGTTGAAACTAAGTGTGATACTCTGGAAGCATCTTCCATGTCTGTCCCAGCTTCTCACCCACTTTCTGAGATGCCCTCCTAAAGTCTCTGCCTGTTTCTTGGAGGGAACCTCTGCATCTGTGACACCTACTCTATGACCCCTGGGGACTGACAGTAAAGGAAGGGATGATGCTTCAGGGAGCAGATAGTGTAATCT
Task1_train_6722
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?
Pathogenic; Luscan-Lumish syndrome
TGGTCTACAACCCTACTTATTCTTCCTTCCATAAAAGTACAGCTATAAAGGCCTTTTCTGTGTCCATTTGTGTACTTGTCTTCATCTCCACCTTCTTAACTGAGCTTCTTTACAGGCTCCACTAGCAGCCTCCAAACACAAGAGGGACTCCTTTTAGGGACTCCTGTGCTGTCACAAAGCAGGCCTTAAATAAAAATCCATCAAGTGACTATCCCAGCACTTCTTTCAATTAACTGCAATTCTGATTCCTGCAGTTCACATACTGACTTCATAAGTAAATTTACTACGAACTCTTCCTTTCATATTTAGAAAAAGGCCTGATTTCCTAAGACATAATAAGGCTGACTTTATACTGAATTGTAAGTGATGAAAGTAACATGAGTAAGAGCTCAAATGGGTAAACAAAAGCTGAAACCACAACATACTTAAAGAAGGGTCTCAACACAGCAAATGAGGAAGCATAGTACACAACCACCAACTACTCATTTTGCTCAGTGTTTAAGGCCAGTTTCATTGGGTCAAATCACAGGATCTAATGGAGTGAGCTTTGTCATCATAATTAGGGGCAGGGAGGATTCAGGTGTTCATCTTGCTGCAAAGAGTCAGGATTGCTGGTTTATTTGGTTGCTTCATCTCCGGCAGAAGAAAGGAGGAACAGAAAAATAGAAGCTAGTTAAGTAACCTGTTCCCACAGGGTCCTCAAGACGTGGATCCCAAGTCCAGATCACTTACAAATGAAATGTACCACACCTCTCCTAGGTTTATCCTGTTATTCATTCTTGTGTTTATCCAAGACTCAGTCTGGGTTTTCTGCAAAGCAAACCCTGCACATCTTGCTACATTCTTCAACAAGAGATTATGTATGTAATAGGCATAAGAGTTCCAGATCTATTTTTCCTCTTTTGTCCAAAGAAATAGGCATTTAAAAGCAGGCCCATTTCAGAAACAATAATAGAAGTGAATACGAACTAGTTCCATAAAGTTGTTTTTCTAAAATAAAAATTTACATTCAATCATTTTTAGTAAGCTGCTAAATTATCTTAGTTTTCCAATTATTTTTAATTTTCCATTAATACAACTGATTTCCAATAAATTTAAACACTAATTTTTTCTCATTACAAATAGAATCCTAAGTTTGCTCCTCAAAGGATTTTTGTTTTTAATGTGAAGAGCACTTAAATGACTGAACTCACTATTGTGATGTACTTTTCTAAGTGACAGAAAAGAAGACATTTGTATATTAGTTTGGCTAATATGACTCTTGCCACGGTTTAGAGGATGTTTGAGACACTTATAAATAAAACAGTAAGAGAGACAGTATTCCATTTTTCAGAAATATGCATGGCTAAAAAAAGTAGTTAATTTTGCTTAGGTTTGTAGAACTCTAAACCTGAGTAATTCAAGTTGAAATGAACAAAAGATGCTTCCTTACCTTTAGGTCTTTCCAACTGTCCAGGAGTTTGGTGGCCAAATCACTTATATCCACTGTTTTATCTGGCTGTTCTTGGCTCCTTTCACTCTCCACATCAGACACACCCTCCTCTTCATCTTGGGATGGTGTTTCTTCATTAATAGGTTCTTCTAGTTTTGTGCCGTTGCTCTCTTTGGGCTCTATTTCAGCGTCAGCTTCTGGTTCAGATGTAGGTAGCTTACTAGCTTCTATGTTGGTTTCACTATCAACTTTGCATTCAGGCAGCTGTTGTGGGAGTAGCTGTTGTGACTGCAATTCTTCCTCTTCCTCTACAGGGACATTTTCTAATTGATCAAGATCCTCTTTGCCATCCTTGCCTTCTAGCTCACTGGTTGCATCAGAGATTGCACTGTCCATGCTATTTTCACTTATAATTTTCAGTCTGCGAAACATTAGTTTCTTGGGAGTGTCTGTGTCAGCTTCTGTGCTCAGCTTGGTGGAAGGATCAGGTGTGTTGAGTGGTGTATGAGCACGCGATGTATTCTCACTAGAATACCCATCTCCTTCACTCAACGGAGGGACAGCAGTCTTAGTCTGAGACCAGCGTTGAATAATTGGAAGTACTTTGCTTTCCTCCAACATATTTTTAGTAGGAATGGGCAAGTGTTCCAAAGTCTTTATAATCTGATTAAACATAAAAAAAAATTACATCACTTTGTACAGTTGACTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAATGCAATGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCGCTAGCTGCCACGCCTGGCTAATCTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAATGCTGGGATTACCAGCATGAGCCACCACACCTGGCTACAGTTGATTTTGTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGATGTGATCTTGGTCACTGCAATCTCTGGCTCCCTGGTTTAAGCGATTCTCCTGCCTCAGCCTCCCGAGGAGCTGGGATTACAGGGATGCACCACCATGCACAGCTTTTTTTTTTTTTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTAGGTGATCCACCTGCCTCAGCCTCCCAAACTGCTGGGATTACAGGCATTGAGCCACAGCGCCTGGCCTACAGTTGACTTTTTCAATTTCTGGATGGGACTCAGATTATTTCTGCAAGAGTAGTGCAGTTTTGCTACTGCTTTATTAAGAACTACATCTCTGTAAACACAAGCATATTTAAAAATCATAATATTGTTTTCCTTAAGAAAGAAAAACTTTTAATAAGACTGATCAGCAAGAATCACAACATCAAATAGGACTGATTAATATTCTCTACCAGTAGTTCCTAAACCTGGGTAGCTTTTTAAACATATACACTACTGGACCAATCCTGGGTATCTTTTCTTAAAAAGTTTACCAAGTGTCTGTGATATACACTTAGCAGCTATGTAACAACATATTTAAATGATGTCTGTCATACACACAAAAATGCAGACATCTCTTCAGCTTTTGATAAACAGCTGTCTAGCAAAGAGAGATCCCCTCCTCATTCTTAGACAACCTCCCCCATTTTGAAATCCAAGAATTTTTTCTGAAGTATTCCTCAATGTAGTTCCACAGAAACCCCAAGGCTTCCTCAATTTCCTCAAGCCAAATCTCCTGGGAGAAGGACAGAGGCAAGAACAAGTACTTATCTGCCCATTCCTTTTTGTTTGTTTTTAAAAGTGTTTTATTAAATAAAAGACTCTGGGATTATATTACAAATTAGAAAGTTAGAAAATTTTATTAATTTCATAGAAAGGTAAAGACATCGTAACTCCACTAATAATGCTGCCAATGAACCTTTACTTAGATCTTTTAAAACACTTATTTAAAAGATTCCTCAAAATGTTCATACTCTTGTTATGCAGAATTCAGATCTTTACCAATTCTTTAGACCCCACAGTTCAAATTTTATATGACTTCCCATCTTTTTAAAACTCTGGTTTTAACAACAAACTGGATCTTTCACTTAACTATGTTGTTGTTATTATATCTTGCTCTTGTAGTTCCCTGCTATGTAGTACCAACTTTAAAAAGATACTATAGGAAAACCATGGGACAAACTACTAACAAGGTGTATGTACGGTTAGATACGTTAAAGGAATGATACTGAGATGAAAAAATTATTTGATTATTTAATACCAATGATACAGTGCTAAATTCATAATTACTGATATTATCACATATCCACAACCGAGGCAATCAATATAACAGTTTTAAGAAACAAGCAAGCTAAATGTGAACTGACCTCTTCCTGAAGCTTCTGGTTACTTTCCCGGCCGTCACCTAGCTCTGCCATCCAGATCCACAACAAAGACAGCCCATGACGTTCCAGAAAGGACTTCAGGCAGGACTGTGAGTGTGTGTTCTTTCATGGGGGAAGGGAGACACGATGCAGAGCATTGGGAGGCAATATCAGAATATTACAAAGAGCCCG
TGGTCTACAACCCTACTTATTCTTCCTTCCATAAAAGTACAGCTATAAAGGCCTTTTCTGTGTCCATTTGTGTACTTGTCTTCATCTCCACCTTCTTAACTGAGCTTCTTTACAGGCTCCACTAGCAGCCTCCAAACACAAGAGGGACTCCTTTTAGGGACTCCTGTGCTGTCACAAAGCAGGCCTTAAATAAAAATCCATCAAGTGACTATCCCAGCACTTCTTTCAATTAACTGCAATTCTGATTCCTGCAGTTCACATACTGACTTCATAAGTAAATTTACTACGAACTCTTCCTTTCATATTTAGAAAAAGGCCTGATTTCCTAAGACATAATAAGGCTGACTTTATACTGAATTGTAAGTGATGAAAGTAACATGAGTAAGAGCTCAAATGGGTAAACAAAAGCTGAAACCACAACATACTTAAAGAAGGGTCTCAACACAGCAAATGAGGAAGCATAGTACACAACCACCAACTACTCATTTTGCTCAGTGTTTAAGGCCAGTTTCATTGGGTCAAATCACAGGATCTAATGGAGTGAGCTTTGTCATCATAATTAGGGGCAGGGAGGATTCAGGTGTTCATCTTGCTGCAAAGAGTCAGGATTGCTGGTTTATTTGGTTGCTTCATCTCCGGCAGAAGAAAGGAGGAACAGAAAAATAGAAGCTAGTTAAGTAACCTGTTCCCACAGGGTCCTCAAGACGTGGATCCCAAGTCCAGATCACTTACAAATGAAATGTACCACACCTCTCCTAGGTTTATCCTGTTATTCATTCTTGTGTTTATCCAAGACTCAGTCTGGGTTTTCTGCAAAGCAAACCCTGCACATCTTGCTACATTCTTCAACAAGAGATTATGTATGTAATAGGCATAAGAGTTCCAGATCTATTTTTCCTCTTTTGTCCAAAGAAATAGGCATTTAAAAGCAGGCCCATTTCAGAAACAATAATAGAAGTGAATACGAACTAGTTCCATAAAGTTGTTTTTCTAAAATAAAAATTTACATTCAATCATTTTTAGTAAGCTGCTAAATTATCTTAGTTTTCCAATTATTTTTAATTTTCCATTAATACAACTGATTTCCAATAAATTTAAACACTAATTTTTTCTCATTACAAATAGAATCCTAAGTTTGCTCCTCAAAGGATTTTTGTTTTTAATGTGAAGAGCACTTAAATGACTGAACTCACTATTGTGATGTACTTTTCTAAGTGACAGAAAAGAAGACATTTGTATATTAGTTTGGCTAATATGACTCTTGCCACGGTTTAGAGGATGTTTGAGACACTTATAAATAAAACAGTAAGAGAGACAGTATTCCATTTTTCAGAAATATGCATGGCTAAAAAAAGTAGTTAATTTTGCTTAGGTTTGTAGAACTCTAAACCTGAGTAATTCAAGTTGAAATGAACAAAAGATGCTTCCTTACCTTTAGGTCTTTCCAACTGTCCAGGAGTTTGGTGGCCAAATCACTTATATCCACTGTTTTATCTGGCTGTTCTTGGCTCCTTTCACTCTCCACATCAGACACACCCTCCTCTTCATCTTGGGATGGTGTTTCTTCATTAATAGGTTCTTCTAGTTTTGTGCCGTTGCTCTCTTTGGGCTCTATTTCAGCGTCAGCTTCTGGTTCAGATGTAGGTAGCTTACTAGCTTCTATGTTGGTTTCACTATCAACTTTGCATTCAGGCAGCTGTTGTGGGAGTAGCTGTTGTGACTGCAATTCTTCCTCTTCCTCTACAGGGACATTTTCTAATTGATCAAGATCCTCTTTGCCATCCTTGCCTTCTAGCTCACTGGTTGCATCAGAGATTGCACTGTCCATGCTATTTTCACTTATAATTTTCAGTCTGCGAAACATTAGTTTCTTGGGAGTGTCTGTGTCAGCTTCTGTGCTCAGCTTGGTGGAAGGATCAGGTGTGTTGAGTGGTGTATGAGCACGCGATGTATTCTCACTAGAATACCCATCTCCTTCACTCAACGGAGGGACAGCAGTCTTAGTCTGAGACCAGCGTTGAATAATTGGAAGTACTTTGCTTTCCTCCCACATATTTTTAGTAGGAATGGGCAAGTGTTCCAAAGTCTTTATAATCTGATTAAACATAAAAAAAAATTACATCACTTTGTACAGTTGACTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAATGCAATGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCGCTAGCTGCCACGCCTGGCTAATCTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAATGCTGGGATTACCAGCATGAGCCACCACACCTGGCTACAGTTGATTTTGTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGATGTGATCTTGGTCACTGCAATCTCTGGCTCCCTGGTTTAAGCGATTCTCCTGCCTCAGCCTCCCGAGGAGCTGGGATTACAGGGATGCACCACCATGCACAGCTTTTTTTTTTTTTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTAGGTGATCCACCTGCCTCAGCCTCCCAAACTGCTGGGATTACAGGCATTGAGCCACAGCGCCTGGCCTACAGTTGACTTTTTCAATTTCTGGATGGGACTCAGATTATTTCTGCAAGAGTAGTGCAGTTTTGCTACTGCTTTATTAAGAACTACATCTCTGTAAACACAAGCATATTTAAAAATCATAATATTGTTTTCCTTAAGAAAGAAAAACTTTTAATAAGACTGATCAGCAAGAATCACAACATCAAATAGGACTGATTAATATTCTCTACCAGTAGTTCCTAAACCTGGGTAGCTTTTTAAACATATACACTACTGGACCAATCCTGGGTATCTTTTCTTAAAAAGTTTACCAAGTGTCTGTGATATACACTTAGCAGCTATGTAACAACATATTTAAATGATGTCTGTCATACACACAAAAATGCAGACATCTCTTCAGCTTTTGATAAACAGCTGTCTAGCAAAGAGAGATCCCCTCCTCATTCTTAGACAACCTCCCCCATTTTGAAATCCAAGAATTTTTTCTGAAGTATTCCTCAATGTAGTTCCACAGAAACCCCAAGGCTTCCTCAATTTCCTCAAGCCAAATCTCCTGGGAGAAGGACAGAGGCAAGAACAAGTACTTATCTGCCCATTCCTTTTTGTTTGTTTTTAAAAGTGTTTTATTAAATAAAAGACTCTGGGATTATATTACAAATTAGAAAGTTAGAAAATTTTATTAATTTCATAGAAAGGTAAAGACATCGTAACTCCACTAATAATGCTGCCAATGAACCTTTACTTAGATCTTTTAAAACACTTATTTAAAAGATTCCTCAAAATGTTCATACTCTTGTTATGCAGAATTCAGATCTTTACCAATTCTTTAGACCCCACAGTTCAAATTTTATATGACTTCCCATCTTTTTAAAACTCTGGTTTTAACAACAAACTGGATCTTTCACTTAACTATGTTGTTGTTATTATATCTTGCTCTTGTAGTTCCCTGCTATGTAGTACCAACTTTAAAAAGATACTATAGGAAAACCATGGGACAAACTACTAACAAGGTGTATGTACGGTTAGATACGTTAAAGGAATGATACTGAGATGAAAAAATTATTTGATTATTTAATACCAATGATACAGTGCTAAATTCATAATTACTGATATTATCACATATCCACAACCGAGGCAATCAATATAACAGTTTTAAGAAACAAGCAAGCTAAATGTGAACTGACCTCTTCCTGAAGCTTCTGGTTACTTTCCCGGCCGTCACCTAGCTCTGCCATCCAGATCCACAACAAAGACAGCCCATGACGTTCCAGAAAGGACTTCAGGCAGGACTGTGAGTGTGTGTTCTTTCATGGGGGAAGGGAGACACGATGCAGAGCATTGGGAGGCAATATCAGAATATTACAAAGAGCCCG
Task1_train_6723
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.
Pathogenic; not provided
TTATCACATATCCACAACCGAGGCAATCAATATAACAGTTTTAAGAAACAAGCAAGCTAAATGTGAACTGACCTCTTCCTGAAGCTTCTGGTTACTTTCCCGGCCGTCACCTAGCTCTGCCATCCAGATCCACAACAAAGACAGCCCATGACGTTCCAGAAAGGACTTCAGGCAGGACTGTGAGTGTGTGTTCTTTCATGGGGGAAGGGAGACACGATGCAGAGCATTGGGAGGCAATATCAGAATATTACAAAGAGCCCGAGGAGAGTTCATGTATACGTTACACATTATAGGGTTCACTTACATTCACAAAAAAAACCTAGAAACTCTGTTTTCATTAGCCTAAATAGAACTCTACAACAAATGCTTTAAACAGATTATAATCTTCTCTGATACACAAAATACAGCCAGTCAACTGGGATTTTACTAACGTAGAAAATTATATGAATATTAATAGGTCATTTATAATGAAAATTCTGAAGAACTAAGAAAAAATTGCATCTAACTTTTTAAATAAAGCTAAAACCATAAAAATTAGTCCTTAAATAATTCTTTCTTCTCTCCCTTTCAGATGATTGTTGAAAAGACCTCTTTTTCCTGTTAGTTTTTTTTTTTTAATCATCATGGTTTTTTTACACTGTGGCTTACAACTACAATCTCAGCACTTTCGAAGGTGGAAGAGGGAGGGACTGGTTGAGGCCAGGAGTTCAAAACCAGCCTGGGCAAAATAGCAAGACCCTTATCTCTACAAAAATATAAATATAAAAATTAGCTGGATGTGGTGGTGTGTGCCTGTAGTCCTAGATACTCAGGCAACTGAGGCAGGAGGATCACTTGAGCCCAGGAGTTCCAAGGCTGCAGTAAGCTATGATTGCACAACTGCGTTCCAGCCTGGGCAACAAAGCAAGACCCTAAAAAAAAAAAAAAATCATTTTGTGTTATCTAACATCTTGTGGCATACTTAATAAACTGGTGTAAAAAAGGGTACCGTTAAAATTTTGTGCTTGGAGATCACGTAGTACAAATGGCTTTGGGATGCTAGTAACTGGAGGGTAAAAGGCTATGGCAAGTGTGATGAATTATTACAAAAAAAAAAAAAAAGCCACCACATTCTTTGAATATAGACAGAAAGCAAACCAGGTCTAATAATGCCATGGTCCCCAACCTTTCTGGCACCAGGAACCAGTTTCAGGGAAGATAATTTTTCAACAAACTGGGTGGGGGATGGATTCAGGATGAAACTGTTCCACCTCAAATCATCAGGCATTAGATTCTCATAAGGAGTGTACAACCTAGATCTCTCGCATGTGCAGTTCACAATAGGGTTCGTGCTCCTATGAGAATCGAATGCCGCTGCTACTCTGACAGCAGGTGGAGCTCAGGCAGTAATGCTCACTCACCTCCTCCTGTGTGGCCCCGTTCCTAATCAGCCCATGGCCTGGGGATTGGGGATCCCTGTACTAATAGATTAAATGATACTGAACTCTTTAGCCATTTTAAATAATATGGTACAAGCTTTGAAAGTCATACACAACTCACATATCCATTTAAAAAATAAAACTGGCCGGCCATGGTGGCTCACGCCTGTAATCCCAGCATTCTGGGAGGCTGAGACGGGTGGATCATCTGAGGTCAGGATTTCCACACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAATAAGAAAATACAAAAATCAGCTGGGCGTGGTGGCTGGCGCCTGTAATCCCAGCTACTCAGGACGCTGAGGCAGAATTGCTTGCACCCAGGACACAGAAGTTACAGTGAACCGAGACTGCACCACTGCACTCCAGCCTGGATGACAGAACAAGACCCCATCTAAACAAACAAACAAACAAACAAACAAACAAATAAATAAATAAATAAAATAAGACTAACTCTTATCAGAATTATTCCTTCTTCATTCATCTTCATTCATTCATTCCCACCACAAAACCAGAAATAAAAAACAAACATTAAAGTGTTCACCTGTATGAGTTCCAGACAGGTAAGTTTCTGCTCCAAAGTTTCAATTCTAACCATTAGCCGGGATAAGCTGAGCACCTGGTTTTTATCAGAGAGACCCTCACCATTTTCCATCAGAGCTTCTAGCTCTCCATCCACCTACCACAGCAAATAAAAATACCTTTTTATAAAACAACAACAACAAAAAAAAAAACCAAAAACCCAAAAAGTTGCTCAACCTTATCAATTATCAGGAAAACACAAATGAAGACCAAACTGGGAAAGTACTAGACTGGGGGAAAAAGTTAAGAAGGCTGATAATAACAAGTCTACTGTTGATGAAAGTATAAAGTGGTATAATACATTTGAAATGCATTTCATTCACTCATCAAATACGTAGCAAGAACTTATATGAGTCAAGTATAATTCTAGGTGGAGATCTGCAATGAGCCAAAACAGAAAAACCTGCCCTTATGGGAGACCATGAACAAATTACATTAAACCAAAAGGACTTCAGAGATCCTTTATGGTTCATAAATATGATGAATGGGTTTTCACGCTGCTGTGTGAGATATATCTCCTTCAAACTTATATAATTTATATGTTATAATATATAATGACCTTTTTATGATGTCAGCATATGAATGACCCAGCTGATAGGGGCCGGGTGCTTCAGAAAAAAATAAAGCATTAGCCTGAAAAATAAAATAGTTGTATCCCCATGCACAGAAATTCTACTTATCAGAATAAACTGTAGAGAAATTCTGCACATGTGTACCTGGAGATTCATAAGAATGTTCATTGAAGCAATATTTATAATAGCAAAAAATTGCCAACAACCCAAATATCTGTACAAGTTGGATAAACGGCCATGTTCACTCAATGAAATATAATACTACAGTGAAAGGAATCAAGTACAGCCAAATGCAACAACATCCATCAATCTTAAAAATATGTCATTAAGAAAAAGCAAGTTCCAAAGAATTACATGCTATATGAATCCATTTTTATGCACCTCAAAGCTGAACTTTTTAGTGATACATATGTGAAAAACTGCTTTTAAACAGGCAAGGATGACCGGGCATGGTGGCTCACACTTGTAATCTCAGCACTTTGAAAGGCTGAGGCAGGAAGATGACTTGAGCTCAGGAGTTTAAGACCAGCCTGGGCAACACAGCCAGACTTCATCTCTACTAAAAATCAAAAAAATTAGCCAGGTGTGGTAGCATGTGTCTATAGTCTCAGCTATTCAGGAGGCTGAGGCAGAAGGATCACCTGAGCCTGGGAAATTGAGGCTACAGTGAGTTATAATTTTGCCACTGCACTCCAGCCTGGGTGACACAGTGAAATCCTGTCTCAAAAAAAGGCAAGGAAGTAAGACCCAAAATGTACAACAGTGGTAACCTCTAGGTAGGGAGAAGGAAGCAGAGAAGCACTAACAAGGATTTTATAATTATGCTTTGTAACATATATATTCTTTAAGTATTTTAAATATTAAATGTAAATAACGGGGGGTGGGAATCAACCTACCAAAGGTTATTTCCAGCCCTGCATTATGGCAGTTACAGGACATAAAGATTCTTTCAAAGAATTTATTATGGGTGAGATTAAATTAATTCATATGAAACCAAACAAGGAAGCATTAACTGCAAATGTTACATAGAACTAAGAGGCCTACATAAGGGAGTAATTAGAATGAGTCACTGAAATAAGATTAGAAATAGGTAAGATAAAGACAAGAGGAAAGGGTAAGCAAAGTAGTGGGGAAAAGTGTGAACAAAGGAAAATAAGAAATCATGACAGTGCTTAGGTCAACAAAGCTCAAACAGGTAAGGCATGGTGACGGACTGAGAAAAACCATACCAAATAAAAGACTGGGCCAGATGCAGTGGCTCATGTCTACAATCCCAGAACTCTGAAAGGCCAAGACAGGCGGATCACCTGAGGTCAGGAGTTCAAGACGAGCCTGGCCAACATGGTGAAACCCTGTCTCTAATAAAAATACAAAAATTAGCCGGGCATCGTGGCGGGAGCCTGTAGTACCAGCTATCGGGAGGCTGAGGCAGGAGAATAGCTTGAACCCACGAGGTGGAGGTTGCAGTGAACCAAGATTGTGCCACTGTACTCTAG
TTATCACATATCCACAACCGAGGCAATCAATATAACAGTTTTAAGAAACAAGCAAGCTAAATGTGAACTGACCTCTTCCTGAAGCTTCTGGTTACTTTCCCGGCCGTCACCTAGCTCTGCCATCCAGATCCACAACAAAGACAGCCCATGACGTTCCAGAAAGGACTTCAGGCAGGACTGTGAGTGTGTGTTCTTTCATGGGGGAAGGGAGACACGATGCAGAGCATTGGGAGGCAATATCAGAATATTACAAAGAGCCCGAGGAGAGTTCATGTATACGTTACACATTATAGGGTTCACTTACATTCACAAAAAAAACCTAGAAACTCTGTTTTCATTAGCCTAAATAGAACTCTACAACAAATGCTTTAAACAGATTATAATCTTCTCTGATACACAAAATACAGCCAGTCAACTGGGATTTTACTAACGTAGAAAATTATATGAATATTAATAGGTCATTTATAATGAAAATTCTGAAGAACTAAGAAAAAATTGCATCTAACTTTTTAAATAAAGCTAAAACCATAAAAATTAGTCCTTAAATAATTCTTTCTTCTCTCCCTTTCAGATGATTGTTGAAAAGACCTCTTTTTCCTGTTAGTTTTTTTTTTTTAATCATCATGGTTTTTTTACACTGTGGCTTACAACTACAATCTCAGCACTTTCGAAGGTGGAAGAGGGAGGGACTGGTTGAGGCCAGGAGTTCAAAACCAGCCTGGGCAAAATAGCAAGACCCTTATCTCTACAAAAATATAAATATAAAAATTAGCTGGATGTGGTGGTGTGTGCCTGTAGTCCTAGATACTCAGGCAACTGAGGCAGGAGGATCACTTGAGCCCAGGAGTTCCAAGGCTGCAGTAAGCTATGATTGCACAACTGCGTTCCAGCCTGGGCAACAAAGCAAGACCCTAAAAAAAAAAAAAAATCATTTTGTGTTATCTAACATCTTGTGGCATACTTAATAAACTGGTGTAAAAAAGGGTACCGTTAAAATTTTGTGCTTGGAGATCACGTAGTACAAATGGCTTTGGGATGCTAGTAACTGGAGGGTAAAAGGCTATGGCAAGTGTGATGAATTATTACAAAAAAAAAAAAAAAGCCACCACATTCTTTGAATATAGACAGAAAGCAAACCAGGTCTAATAATGCCATGGTCCCCAACCTTTCTGGCACCAGGAACCAGTTTCAGGGAAGATAATTTTTCAACAAACTGGGTGGGGGATGGATTCAGGATGAAACTGTTCCACCTCAAATCATCAGGCATTAGATTCTCATAAGGAGTGTACAACCTAGATCTCTCGCATGTGCAGTTCACAATAGGGTTCGTGCTCCTATGAGAATCGAATGCCGCTGCTACTCTGACAGCAGGTGGAGCTCAGGCAGTAATGCTCACTCACCTCCTCCTGTGTGGCCCCGTTCCTAATCAGCCCATGGCCTGGGGATTGGGGATCCCTGTACTAATAGATTAAATGATACTGAACTCTTTAGCCATTTTAAATAATATGGTACAAGCTTTGAAAGTCATACACAACTCACATATCCATTTAAAAAATAAAACTGGCCGGCCATGGTGGCTCACGCCTGTAATCCCAGCATTCTGGGAGGCTGAGACGGGTGGATCATCTGAGGTCAGGATTTCCACACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAATAAGAAAATACAAAAATCAGCTGGGCGTGGTGGCTGGCGCCTGTAATCCCAGCTACTCAGGACGCTGAGGCAGAATTGCTTGCACCCAGGACACAGAAGTTACAGTGAACCGAGACTGCACCACTGCACTCCAGCCTGGATGACAGAACAAGACCCCATCTAAACAAACAAACAAACAAACAAACAAACAAATAAATAAATAAATAAAATAAGACTAACTCTTATCAGAATTATTCCTTCTTCATTCATCTTCATTCATTCATTCCCACCACAAAACCAGAAATAAAAAACAAACATTAAAGTGTTCACCTGTATGAGTTCCAGACAGGTAAGTTTCTGCTCCAAAGTTTCAATTCTAACCATTAGCTGGGATAAGCTGAGCACCTGGTTTTTATCAGAGAGACCCTCACCATTTTCCATCAGAGCTTCTAGCTCTCCATCCACCTACCACAGCAAATAAAAATACCTTTTTATAAAACAACAACAACAAAAAAAAAAACCAAAAACCCAAAAAGTTGCTCAACCTTATCAATTATCAGGAAAACACAAATGAAGACCAAACTGGGAAAGTACTAGACTGGGGGAAAAAGTTAAGAAGGCTGATAATAACAAGTCTACTGTTGATGAAAGTATAAAGTGGTATAATACATTTGAAATGCATTTCATTCACTCATCAAATACGTAGCAAGAACTTATATGAGTCAAGTATAATTCTAGGTGGAGATCTGCAATGAGCCAAAACAGAAAAACCTGCCCTTATGGGAGACCATGAACAAATTACATTAAACCAAAAGGACTTCAGAGATCCTTTATGGTTCATAAATATGATGAATGGGTTTTCACGCTGCTGTGTGAGATATATCTCCTTCAAACTTATATAATTTATATGTTATAATATATAATGACCTTTTTATGATGTCAGCATATGAATGACCCAGCTGATAGGGGCCGGGTGCTTCAGAAAAAAATAAAGCATTAGCCTGAAAAATAAAATAGTTGTATCCCCATGCACAGAAATTCTACTTATCAGAATAAACTGTAGAGAAATTCTGCACATGTGTACCTGGAGATTCATAAGAATGTTCATTGAAGCAATATTTATAATAGCAAAAAATTGCCAACAACCCAAATATCTGTACAAGTTGGATAAACGGCCATGTTCACTCAATGAAATATAATACTACAGTGAAAGGAATCAAGTACAGCCAAATGCAACAACATCCATCAATCTTAAAAATATGTCATTAAGAAAAAGCAAGTTCCAAAGAATTACATGCTATATGAATCCATTTTTATGCACCTCAAAGCTGAACTTTTTAGTGATACATATGTGAAAAACTGCTTTTAAACAGGCAAGGATGACCGGGCATGGTGGCTCACACTTGTAATCTCAGCACTTTGAAAGGCTGAGGCAGGAAGATGACTTGAGCTCAGGAGTTTAAGACCAGCCTGGGCAACACAGCCAGACTTCATCTCTACTAAAAATCAAAAAAATTAGCCAGGTGTGGTAGCATGTGTCTATAGTCTCAGCTATTCAGGAGGCTGAGGCAGAAGGATCACCTGAGCCTGGGAAATTGAGGCTACAGTGAGTTATAATTTTGCCACTGCACTCCAGCCTGGGTGACACAGTGAAATCCTGTCTCAAAAAAAGGCAAGGAAGTAAGACCCAAAATGTACAACAGTGGTAACCTCTAGGTAGGGAGAAGGAAGCAGAGAAGCACTAACAAGGATTTTATAATTATGCTTTGTAACATATATATTCTTTAAGTATTTTAAATATTAAATGTAAATAACGGGGGGTGGGAATCAACCTACCAAAGGTTATTTCCAGCCCTGCATTATGGCAGTTACAGGACATAAAGATTCTTTCAAAGAATTTATTATGGGTGAGATTAAATTAATTCATATGAAACCAAACAAGGAAGCATTAACTGCAAATGTTACATAGAACTAAGAGGCCTACATAAGGGAGTAATTAGAATGAGTCACTGAAATAAGATTAGAAATAGGTAAGATAAAGACAAGAGGAAAGGGTAAGCAAAGTAGTGGGGAAAAGTGTGAACAAAGGAAAATAAGAAATCATGACAGTGCTTAGGTCAACAAAGCTCAAACAGGTAAGGCATGGTGACGGACTGAGAAAAACCATACCAAATAAAAGACTGGGCCAGATGCAGTGGCTCATGTCTACAATCCCAGAACTCTGAAAGGCCAAGACAGGCGGATCACCTGAGGTCAGGAGTTCAAGACGAGCCTGGCCAACATGGTGAAACCCTGTCTCTAATAAAAATACAAAAATTAGCCGGGCATCGTGGCGGGAGCCTGTAGTACCAGCTATCGGGAGGCTGAGGCAGGAGAATAGCTTGAACCCACGAGGTGGAGGTTGCAGTGAACCAAGATTGTGCCACTGTACTCTAG
Task1_train_6724
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?
Pathogenic; Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity
TGCTGTTGGCTGGGGTGGTGCCCGGCTGCCTCCTGAGCTGCTTGTCATCTGATGGACAGGCAGGGCCGGGTGGGAGGCAGGAGGAGAAAGGGTCCAAGCAGAGGAGGACAGAGCAGGCTTTCCTGCCACCCTCCACAGGTTGCATACTTCCAGAGCGCCCTGGACAAGCTCAATGAAGCCATCAAGTTGGCCAAGGTAAAGCTGAGGAAGGCCTGGCTGCCCTGAGGGTATAGGAGCAAGCCCGGTAGGACTGAGGGGGTGTCCTGGTGCCAGCCTTGGTTAGTGCTAAGGCCCCACCCCTGTCCCTAACCCCACAGGGCCAGCCTGACACTGTGCAAGACGCGCTTCGCTTCACTATGGATGTCATTGGGGGAAAGTGAGTCTGTGGGGGTGGCCCTGGTTCCCTCTTTTTGTGAAGGGTCTTGTCCCTCTGCTGGCATCTACATGGGAAGTAGGTTCTGGATCCCCACTGACACCCCGTGACTGCCCACTCCCCCTGCTCCTGATCCCCAGGTACAATTCTGCCAAGAAGGACAACGACTTCATTTACCATGAGGCTGTCCCAGCATTGGACACTCTTCAGCCTGTAAAAGGTCGGGGAGCTGAGAGGTGGGGGCAGAGGTGACGGTGGGGTGGGGACAGGACACAGGAGGCTGCCTCAAGGACTCTGCGTGGGCCTGATCTCCACAATTCCCACCCCCCCAGGAGCCCCCTTGGTGAAGCCCTTGCCAGTGAACCCCACAGACCCAGCTGTTACAGGCCCTGACATCTTTGCCAAACTGGTACCCATGGCTGCCCACGAGGCCTCGTCACTGTACAGGTGGGTGGAGGGTGGCACAGAGGGAGGTGGGGTGTCTTGAGATGTGGGTCTTCAGCAAATGCTCTGTCGCTTCTGCAGTGAGGAGAAGGCCAAGCTGCTCCGGGAGATGATGGCCAAGATTGAGGACAAGAATGAGGTCCTGGAGTGAGTGTGGGACTTGGGCAGGGAGGCGGAGGCAGGCAGCACTTCCCGGGCCTCTGGGGGCCCCAGGGCTGCCTATGCTGGGAGAGGAATGAAATGTCCATTCCAAACAGGTTTCCCAATGCTGCCTTCCCGCCTGGGGTGGTGGGGCTAGTGTGTAAGGCAGGAGTCATGTCTTGGGAGGAGGAGGTGCCTTCTGTTCCACTGTTTCCAGCAGTGCCCTGGGCATGTTCTGTGAGACCAGGCCAGACCTGGTAGTAGGGGTCCGAGGTCACAATTTGCTCTCTGCTGAGACCTCAGATTGAGTGGTGAGGCTTGCCCTAGCGGCTCCTTTGACATGGTCAGAGTTGGATCAGCACCCAGCACCCACCTGGCCCTGTTGCTCCCCACAGCCAGTTCATGGATTCAATGCAGTTGGATCCCGAGACGGTGGACAACCTTGATGCCTACAGCCACATCCCACCCCAGCTCATGGAGAAGTGCGCGGCTCTCAGCGTCCGGCCCGACACTGTCAGGAACCTTGTACAGTCCATGCAAGGTGAGTAAGGGGCAGAGCAAGCAGGTGGAAGGGAGTGTGGAGGTCATCTGCTGTGGCCTCCTCCGTGTCCCTGGTCACTGAGGATGGAGGCTGCACCCCTCTAGGCCCTGGCTTGGGCATCCACACCCACTCCTCTGAATCAGCATACCTCTTGCACCCTGCTCAGTGTGCGCTGGGCCTCACTTAAGCCCTGACCTGAGGGGGCGGTTCTGTCTCTTGGGGGAGGGGCCCATGGGTGCCCGGTCAGCCTGCCTCAGGGGCTGCCTGTACAATCCACAACCCCAGTGCTGTCAGGTGTGTTCACGGATGTGGAGGCTTCCCTGAAGGACATCAGAGATCTGTTGGAGGAGGATGAGCTGCTAGAGCAGAAGTTTCAGGAGGCGGTGGGCCAGGCAGGGGCCATCTCCATCACCTCCAAGGCTGAGCTGGCAGAGGTGAGGCGAGAATGGGCCAAGTACATGGAAGTCCATGAGAAGGCCTCCTTCACCAACAGTGAGCTGCACCGTGCCATGAACCTGCACGTCGGCAACCTGCGCCTGCTCAGCGGGCCGCTTGACCAGGTCCGGGCTGCCCTGCCCACACCGGCCCTCTCCCCAGGTGAGCCCCACCAGACCCCATTGGGAGACTCGAGCTGGGGGTTTCTCTGGCCTCACTGACCACTGCTGCCCACAGAGGACAAGGCCGTGCTGCAAAACCTAAAGCGCATCCTGGCTAAGGTGCAGGAGATGCGGGACCAGCGCGTGTCCCTGGAGCAGCAGCTGCGTGAGCTTATCCAGAAAGATGACATCACTGCCTCGCTGGTCACCACAGACCACTCAGAGATGAAGGTGGGCTGGGTGAGCAGGGTAGAGGGGCTCTGGCTCCGGGCCCCACCCTTAGGAGTCGAGGCCCTGAGTGTCCGTCCCTGGCCCCCACCCCTTCCTCAGAAGTTGTTCGAGGAGCAGCTGAAAAAGTATGACCAGCTGAAGGTGTACCTGGAGCAGAACCTGGCCGCCCAGGACCGTGTCCTCTGTGCACTGACAGAGGCCAACGTGCAGTACGCAGCCGTGCGGCGGGTACTCAGCGACTTGGACCAAAAGTCAGTGCCCAGTCCTCTGCTCTTTCCCGGAGCCACCTGGAGCCCAGCCCCATGGTTCACCTGGAGCTGGCCCTTCTGCCCACCAGGTGGAACTCCACGCTGCAGACCCTGGTGGCCTCGTATGAAGCCTATGAGGACCTGATGAAGAAGTCGCAGGAGGGCAGGGACTTCTACGCAGATCTGGAGAGCAAGGTGGCTGCTCTGCTGGAGCGCACGCAGTCCACCTGCCAGGCCCGCGAGGCTGCCCGCCAGCAGCTCCTGGACAGGTTTGTGTGGCCCTGGGGCTGTGGTGCGGCTCGGGTCCAGACAGGCTGGGGTGATGGGAGCCTGGCCCCACTTTTTCCTTGCCTGTCGCACAGGGAGCTGAAGAAGAAGCCGCCGCCACGGCCCACAGCCCCAAAGCCGCTGCTGCCCCGCAGGGAGGAGAGTGAGGCAGTGGAAGCAGGAGACCCCCCTGAGGAGCTGCGCAGCCTCCCCCCTGACATGGTGGCTGGCCCACGACTGCCTGACACCTTCCTGGGAAGTGCCACCCCGCTCCACTTTCCTCCCAGCCCCTTCCCCAGCTCCACAGGCCCAGGACCCCACTATCTCTCAGGCCCCTTGCCCCCTGGTACCTACTCGGGCCCCACCCAGCTGATACAGCCCAGGGCCCCAGGGCCCCATGCAATGCCCGTAGCACCTGGGCCTGCCCTCTACCCAGCCCCTGCCTACACACCGGAGCTGGGCCTTGTGCCCCGATCCTCCCCACAGCATGGCGTGGTGAGCAGTCCCTATGTGGGGGTAGGGCCGGCCCCACCAGTTGCAGGTCTCCCCTCGGCCCCACCTCCTCAATTCTCAGGCCCCGAGTTGGCCATGGCGGTTCGGCCAGCCACCACCACAGTAGATAGCATCCAGGCGCCCATCCCCAGCCACACAGCCCCACGGCCAAACCCCACCCCTGCTCCTCCCCCGCCCTGCTTCCCTGTGCCCCCACCGCAGCCACTGCCCACGCCTTACACCTACCCTGCAGGGGCTAAGCAACCCATCCCGGCACAGCACCACTTCTCTTCTGGGATCCCCGCAGGTTTTCCAGCCCCAAGGATTGGGCCCCAGCCCCAGCCCCATCCTCAGCCCCATCCTTCACAAGCGTTTGGGCCTCAGCCCCCACAGCAGCCCCTTCCACTCCAGCATCCACATCTCTTCCCACCCCAGGCCCCAGGACTCCTACCCCCACAATCCCCCTACCCCTATGCCCCTCAGCCTGGGGTCCTGGGGCAGCCGCCACCCCCCCTACACACCCAGCTCTACCCAGGTCCCGCTCAAGACCCTCTGCCAGCCCACTCAGGGGCTCTGCCTTTCCCCAGCCCTGGGCCCCCTCAGCCTCCCCATCCCCCACTGGCATATGGTCCTGCCCCTTCTACCAGACCCATGGGCCCCCAGGCAGCCCCTCTTACCATTCGAGGGCCCTCGTCTGCTGGCCAGTCCACCCCTAGTCCCCACCTGGTGCCTTCACCTGCCCCATCTCCAGGGCCTGGTCCGG
TGCTGTTGGCTGGGGTGGTGCCCGGCTGCCTCCTGAGCTGCTTGTCATCTGATGGACAGGCAGGGCCGGGTGGGAGGCAGGAGGAGAAAGGGTCCAAGCAGAGGAGGACAGAGCAGGCTTTCCTGCCACCCTCCACAGGTTGCATACTTCCAGAGCGCCCTGGACAAGCTCAATGAAGCCATCAAGTTGGCCAAGGTAAAGCTGAGGAAGGCCTGGCTGCCCTGAGGGTATAGGAGCAAGCCCGGTAGGACTGAGGGGGTGTCCTGGTGCCAGCCTTGGTTAGTGCTAAGGCCCCACCCCTGTCCCTAACCCCACAGGGCCAGCCTGACACTGTGCAAGACGCGCTTCGCTTCACTATGGATGTCATTGGGGGAAAGTGAGTCTGTGGGGGTGGCCCTGGTTCCCTCTTTTTGTGAAGGGTCTTGTCCCTCTGCTGGCATCTACATGGGAAGTAGGTTCTGGATCCCCACTGACACCCCGTGACTGCCCACTCCCCCTGCTCCTGATCCCCAGGTACAATTCTGCCAAGAAGGACAACGACTTCATTTACCATGAGGCTGTCCCAGCATTGGACACTCTTCAGCCTGTAAAAGGTCGGGGAGCTGAGAGGTGGGGGCAGAGGTGACGGTGGGGTGGGGACAGGACACAGGAGGCTGCCTCAAGGACTCTGCGTGGGCCTGATCTCCACAATTCCCACCCCCCCAGGAGCCCCCTTGGTGAAGCCCTTGCCAGTGAACCCCACAGACCCAGCTGTTACAGGCCCTGACATCTTTGCCAAACTGGTACCCATGGCTGCCCACGAGGCCTCGTCACTGTACAGGTGGGTGGAGGGTGGCACAGAGGGAGGTGGGGTGTCTTGAGATGTGGGTCTTCAGCAAATGCTCTGTCGCTTCTGCAGTGAGGAGAAGGCCAAGCTGCTCCGGGAGATGATGGCCAAGATTGAGGACAAGAATGAGGTCCTGGAGTGAGTGTGGGACTTGGGCAGGGAGGCGGAGGCAGGCAGCACTTCCCGGGCCTCTGGGGGCCCCAGGGCTGCCTATGCTGGGAGAGGAATGAAATGTCCATTCCAAACAGGTTTCCCAATGCTGCCTTCCCGCCTGGGGTGGTGGGGCTAGTGTGTAAGGCAGGAGTCATGTCTTGGGAGGAGGAGGTGCCTTCTGTTCCACTGTTTCCAGCAGTGCCCTGGGCATGTTCTGTGAGACCAGGCCAGACCTGGTAGTAGGGGTCCGAGGTCACAATTTGCTCTCTGCTGAGACCTCAGATTGAGTGGTGAGGCTTGCCCTAGCGGCTCCTTTGACATGGTCAGAGTTGGATCAGCACCCAGCACCCACCTGGCCCTGTTGCTCCCCACAGCCAGTTCATGGATTCAATGCAGTTGGATCCCGAGACGGTGGACAACCTTGATGCCTACAGCCACATCCCACCCCAGCTCATGGAGAAGTGCGCGGCTCTCAGCGTCCGGCCCGACACTGTCAGGAACCTTGTACAGTCCATGCAAGGTGAGTAAGGGGCAGAGCAAGCAGGTGGAAGGGAGTGTGGAGGTCATCTGCTGTGGCCTCCTCCGTGTCCCTGGTCACTGAGGATGGAGGCTGCACCCCTCTAGGCCCTGGCTTGGGCATCCACACCCACTCCTCTGAATCAGCATACCTCTTGCACCCTGCTCAGTGTGCGCTGGGCCTCACTTAAGCCCTGACCTGAGGGGGCGGTTCTGTCTCTTGGGGGAGGGGCCCATGGGTGCCCGGTCAGCCTGCCTCAGGGGCTGCCTGTACAATCCACAACCCCAGTGCTGTCAGGTGTGTTCACGGATGTGGAGGCTTCCCTGAAGGACATCAGAGATCTGTTGGAGGAGGATGAGCTGCTAGAGCAGAAGTTTCAGGAGGCGGTGGGCCAGGCAGGGGCCATCTCCATCACCTCCAAGGCTGAGCTGGCAGAGGTGAGGCGAGAATGGGCCAAGTACATGGAAGTCCATGAGAAGGCCTCCTTCACCAACAGTGAGCTGCACCGTGCCATGAACCTGCACGTCGGCAACCTGCGCCTGCTCAGCGGGCTGCTTGACCAGGTCCGGGCTGCCCTGCCCACACCGGCCCTCTCCCCAGGTGAGCCCCACCAGACCCCATTGGGAGACTCGAGCTGGGGGTTTCTCTGGCCTCACTGACCACTGCTGCCCACAGAGGACAAGGCCGTGCTGCAAAACCTAAAGCGCATCCTGGCTAAGGTGCAGGAGATGCGGGACCAGCGCGTGTCCCTGGAGCAGCAGCTGCGTGAGCTTATCCAGAAAGATGACATCACTGCCTCGCTGGTCACCACAGACCACTCAGAGATGAAGGTGGGCTGGGTGAGCAGGGTAGAGGGGCTCTGGCTCCGGGCCCCACCCTTAGGAGTCGAGGCCCTGAGTGTCCGTCCCTGGCCCCCACCCCTTCCTCAGAAGTTGTTCGAGGAGCAGCTGAAAAAGTATGACCAGCTGAAGGTGTACCTGGAGCAGAACCTGGCCGCCCAGGACCGTGTCCTCTGTGCACTGACAGAGGCCAACGTGCAGTACGCAGCCGTGCGGCGGGTACTCAGCGACTTGGACCAAAAGTCAGTGCCCAGTCCTCTGCTCTTTCCCGGAGCCACCTGGAGCCCAGCCCCATGGTTCACCTGGAGCTGGCCCTTCTGCCCACCAGGTGGAACTCCACGCTGCAGACCCTGGTGGCCTCGTATGAAGCCTATGAGGACCTGATGAAGAAGTCGCAGGAGGGCAGGGACTTCTACGCAGATCTGGAGAGCAAGGTGGCTGCTCTGCTGGAGCGCACGCAGTCCACCTGCCAGGCCCGCGAGGCTGCCCGCCAGCAGCTCCTGGACAGGTTTGTGTGGCCCTGGGGCTGTGGTGCGGCTCGGGTCCAGACAGGCTGGGGTGATGGGAGCCTGGCCCCACTTTTTCCTTGCCTGTCGCACAGGGAGCTGAAGAAGAAGCCGCCGCCACGGCCCACAGCCCCAAAGCCGCTGCTGCCCCGCAGGGAGGAGAGTGAGGCAGTGGAAGCAGGAGACCCCCCTGAGGAGCTGCGCAGCCTCCCCCCTGACATGGTGGCTGGCCCACGACTGCCTGACACCTTCCTGGGAAGTGCCACCCCGCTCCACTTTCCTCCCAGCCCCTTCCCCAGCTCCACAGGCCCAGGACCCCACTATCTCTCAGGCCCCTTGCCCCCTGGTACCTACTCGGGCCCCACCCAGCTGATACAGCCCAGGGCCCCAGGGCCCCATGCAATGCCCGTAGCACCTGGGCCTGCCCTCTACCCAGCCCCTGCCTACACACCGGAGCTGGGCCTTGTGCCCCGATCCTCCCCACAGCATGGCGTGGTGAGCAGTCCCTATGTGGGGGTAGGGCCGGCCCCACCAGTTGCAGGTCTCCCCTCGGCCCCACCTCCTCAATTCTCAGGCCCCGAGTTGGCCATGGCGGTTCGGCCAGCCACCACCACAGTAGATAGCATCCAGGCGCCCATCCCCAGCCACACAGCCCCACGGCCAAACCCCACCCCTGCTCCTCCCCCGCCCTGCTTCCCTGTGCCCCCACCGCAGCCACTGCCCACGCCTTACACCTACCCTGCAGGGGCTAAGCAACCCATCCCGGCACAGCACCACTTCTCTTCTGGGATCCCCGCAGGTTTTCCAGCCCCAAGGATTGGGCCCCAGCCCCAGCCCCATCCTCAGCCCCATCCTTCACAAGCGTTTGGGCCTCAGCCCCCACAGCAGCCCCTTCCACTCCAGCATCCACATCTCTTCCCACCCCAGGCCCCAGGACTCCTACCCCCACAATCCCCCTACCCCTATGCCCCTCAGCCTGGGGTCCTGGGGCAGCCGCCACCCCCCCTACACACCCAGCTCTACCCAGGTCCCGCTCAAGACCCTCTGCCAGCCCACTCAGGGGCTCTGCCTTTCCCCAGCCCTGGGCCCCCTCAGCCTCCCCATCCCCCACTGGCATATGGTCCTGCCCCTTCTACCAGACCCATGGGCCCCCAGGCAGCCCCTCTTACCATTCGAGGGCCCTCGTCTGCTGGCCAGTCCACCCCTAGTCCCCACCTGGTGCCTTCACCTGCCCCATCTCCAGGGCCTGGTCCGG
Task1_train_6725
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.
Pathogenic; Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity
GACTGCCCACTCCCCCTGCTCCTGATCCCCAGGTACAATTCTGCCAAGAAGGACAACGACTTCATTTACCATGAGGCTGTCCCAGCATTGGACACTCTTCAGCCTGTAAAAGGTCGGGGAGCTGAGAGGTGGGGGCAGAGGTGACGGTGGGGTGGGGACAGGACACAGGAGGCTGCCTCAAGGACTCTGCGTGGGCCTGATCTCCACAATTCCCACCCCCCCAGGAGCCCCCTTGGTGAAGCCCTTGCCAGTGAACCCCACAGACCCAGCTGTTACAGGCCCTGACATCTTTGCCAAACTGGTACCCATGGCTGCCCACGAGGCCTCGTCACTGTACAGGTGGGTGGAGGGTGGCACAGAGGGAGGTGGGGTGTCTTGAGATGTGGGTCTTCAGCAAATGCTCTGTCGCTTCTGCAGTGAGGAGAAGGCCAAGCTGCTCCGGGAGATGATGGCCAAGATTGAGGACAAGAATGAGGTCCTGGAGTGAGTGTGGGACTTGGGCAGGGAGGCGGAGGCAGGCAGCACTTCCCGGGCCTCTGGGGGCCCCAGGGCTGCCTATGCTGGGAGAGGAATGAAATGTCCATTCCAAACAGGTTTCCCAATGCTGCCTTCCCGCCTGGGGTGGTGGGGCTAGTGTGTAAGGCAGGAGTCATGTCTTGGGAGGAGGAGGTGCCTTCTGTTCCACTGTTTCCAGCAGTGCCCTGGGCATGTTCTGTGAGACCAGGCCAGACCTGGTAGTAGGGGTCCGAGGTCACAATTTGCTCTCTGCTGAGACCTCAGATTGAGTGGTGAGGCTTGCCCTAGCGGCTCCTTTGACATGGTCAGAGTTGGATCAGCACCCAGCACCCACCTGGCCCTGTTGCTCCCCACAGCCAGTTCATGGATTCAATGCAGTTGGATCCCGAGACGGTGGACAACCTTGATGCCTACAGCCACATCCCACCCCAGCTCATGGAGAAGTGCGCGGCTCTCAGCGTCCGGCCCGACACTGTCAGGAACCTTGTACAGTCCATGCAAGGTGAGTAAGGGGCAGAGCAAGCAGGTGGAAGGGAGTGTGGAGGTCATCTGCTGTGGCCTCCTCCGTGTCCCTGGTCACTGAGGATGGAGGCTGCACCCCTCTAGGCCCTGGCTTGGGCATCCACACCCACTCCTCTGAATCAGCATACCTCTTGCACCCTGCTCAGTGTGCGCTGGGCCTCACTTAAGCCCTGACCTGAGGGGGCGGTTCTGTCTCTTGGGGGAGGGGCCCATGGGTGCCCGGTCAGCCTGCCTCAGGGGCTGCCTGTACAATCCACAACCCCAGTGCTGTCAGGTGTGTTCACGGATGTGGAGGCTTCCCTGAAGGACATCAGAGATCTGTTGGAGGAGGATGAGCTGCTAGAGCAGAAGTTTCAGGAGGCGGTGGGCCAGGCAGGGGCCATCTCCATCACCTCCAAGGCTGAGCTGGCAGAGGTGAGGCGAGAATGGGCCAAGTACATGGAAGTCCATGAGAAGGCCTCCTTCACCAACAGTGAGCTGCACCGTGCCATGAACCTGCACGTCGGCAACCTGCGCCTGCTCAGCGGGCCGCTTGACCAGGTCCGGGCTGCCCTGCCCACACCGGCCCTCTCCCCAGGTGAGCCCCACCAGACCCCATTGGGAGACTCGAGCTGGGGGTTTCTCTGGCCTCACTGACCACTGCTGCCCACAGAGGACAAGGCCGTGCTGCAAAACCTAAAGCGCATCCTGGCTAAGGTGCAGGAGATGCGGGACCAGCGCGTGTCCCTGGAGCAGCAGCTGCGTGAGCTTATCCAGAAAGATGACATCACTGCCTCGCTGGTCACCACAGACCACTCAGAGATGAAGGTGGGCTGGGTGAGCAGGGTAGAGGGGCTCTGGCTCCGGGCCCCACCCTTAGGAGTCGAGGCCCTGAGTGTCCGTCCCTGGCCCCCACCCCTTCCTCAGAAGTTGTTCGAGGAGCAGCTGAAAAAGTATGACCAGCTGAAGGTGTACCTGGAGCAGAACCTGGCCGCCCAGGACCGTGTCCTCTGTGCACTGACAGAGGCCAACGTGCAGTACGCAGCCGTGCGGCGGGTACTCAGCGACTTGGACCAAAAGTCAGTGCCCAGTCCTCTGCTCTTTCCCGGAGCCACCTGGAGCCCAGCCCCATGGTTCACCTGGAGCTGGCCCTTCTGCCCACCAGGTGGAACTCCACGCTGCAGACCCTGGTGGCCTCGTATGAAGCCTATGAGGACCTGATGAAGAAGTCGCAGGAGGGCAGGGACTTCTACGCAGATCTGGAGAGCAAGGTGGCTGCTCTGCTGGAGCGCACGCAGTCCACCTGCCAGGCCCGCGAGGCTGCCCGCCAGCAGCTCCTGGACAGGTTTGTGTGGCCCTGGGGCTGTGGTGCGGCTCGGGTCCAGACAGGCTGGGGTGATGGGAGCCTGGCCCCACTTTTTCCTTGCCTGTCGCACAGGGAGCTGAAGAAGAAGCCGCCGCCACGGCCCACAGCCCCAAAGCCGCTGCTGCCCCGCAGGGAGGAGAGTGAGGCAGTGGAAGCAGGAGACCCCCCTGAGGAGCTGCGCAGCCTCCCCCCTGACATGGTGGCTGGCCCACGACTGCCTGACACCTTCCTGGGAAGTGCCACCCCGCTCCACTTTCCTCCCAGCCCCTTCCCCAGCTCCACAGGCCCAGGACCCCACTATCTCTCAGGCCCCTTGCCCCCTGGTACCTACTCGGGCCCCACCCAGCTGATACAGCCCAGGGCCCCAGGGCCCCATGCAATGCCCGTAGCACCTGGGCCTGCCCTCTACCCAGCCCCTGCCTACACACCGGAGCTGGGCCTTGTGCCCCGATCCTCCCCACAGCATGGCGTGGTGAGCAGTCCCTATGTGGGGGTAGGGCCGGCCCCACCAGTTGCAGGTCTCCCCTCGGCCCCACCTCCTCAATTCTCAGGCCCCGAGTTGGCCATGGCGGTTCGGCCAGCCACCACCACAGTAGATAGCATCCAGGCGCCCATCCCCAGCCACACAGCCCCACGGCCAAACCCCACCCCTGCTCCTCCCCCGCCCTGCTTCCCTGTGCCCCCACCGCAGCCACTGCCCACGCCTTACACCTACCCTGCAGGGGCTAAGCAACCCATCCCGGCACAGCACCACTTCTCTTCTGGGATCCCCGCAGGTTTTCCAGCCCCAAGGATTGGGCCCCAGCCCCAGCCCCATCCTCAGCCCCATCCTTCACAAGCGTTTGGGCCTCAGCCCCCACAGCAGCCCCTTCCACTCCAGCATCCACATCTCTTCCCACCCCAGGCCCCAGGACTCCTACCCCCACAATCCCCCTACCCCTATGCCCCTCAGCCTGGGGTCCTGGGGCAGCCGCCACCCCCCCTACACACCCAGCTCTACCCAGGTCCCGCTCAAGACCCTCTGCCAGCCCACTCAGGGGCTCTGCCTTTCCCCAGCCCTGGGCCCCCTCAGCCTCCCCATCCCCCACTGGCATATGGTCCTGCCCCTTCTACCAGACCCATGGGCCCCCAGGCAGCCCCTCTTACCATTCGAGGGCCCTCGTCTGCTGGCCAGTCCACCCCTAGTCCCCACCTGGTGCCTTCACCTGCCCCATCTCCAGGGCCTGGTCCGGTACCCCCTCGCCCCCCAGCAGCAGAACCACCCCCTTGCCTGCGCCGAGGCGCCGCAGCTGCAGACCTGCTCTCCTCCAGCCCGGAGAGCCAGCATGGCGGCACTCAGTCTCCTGGGGGTGGGCAGCCCCTGCTGCAGCCCACCAAGGTGGATGCAGCTGAGGGTCGTCGGCCGCAGGCCCTGCGGCTGATTGAGCGGGACCCCTATGAGCATCCTGAGAGGCTGCGGCAGTTGCAGCAGGAGCTGGAGGCCTTTCGGGGTCAGCTGGGGGATGTGGGAGCTCTGGACACTGTCTGGCGAGAGCTGCAAGATGCGCAGGAACATGATGCCCGAGGCCGTTCCATCGCCATTGCCCGCTGCTACTCACTGAAGAACCGGCACCAGGATGTCATGCCCTATGACAGTAACCGTGTGGTGCTGCGCTCAGGCAAGGATGACTACATCAATGCCAGCTGCGTGGAGGGGCTCTCCCCATACTGCCC
GACTGCCCACTCCCCCTGCTCCTGATCCCCAGGTACAATTCTGCCAAGAAGGACAACGACTTCATTTACCATGAGGCTGTCCCAGCATTGGACACTCTTCAGCCTGTAAAAGGTCGGGGAGCTGAGAGGTGGGGGCAGAGGTGACGGTGGGGTGGGGACAGGACACAGGAGGCTGCCTCAAGGACTCTGCGTGGGCCTGATCTCCACAATTCCCACCCCCCCAGGAGCCCCCTTGGTGAAGCCCTTGCCAGTGAACCCCACAGACCCAGCTGTTACAGGCCCTGACATCTTTGCCAAACTGGTACCCATGGCTGCCCACGAGGCCTCGTCACTGTACAGGTGGGTGGAGGGTGGCACAGAGGGAGGTGGGGTGTCTTGAGATGTGGGTCTTCAGCAAATGCTCTGTCGCTTCTGCAGTGAGGAGAAGGCCAAGCTGCTCCGGGAGATGATGGCCAAGATTGAGGACAAGAATGAGGTCCTGGAGTGAGTGTGGGACTTGGGCAGGGAGGCGGAGGCAGGCAGCACTTCCCGGGCCTCTGGGGGCCCCAGGGCTGCCTATGCTGGGAGAGGAATGAAATGTCCATTCCAAACAGGTTTCCCAATGCTGCCTTCCCGCCTGGGGTGGTGGGGCTAGTGTGTAAGGCAGGAGTCATGTCTTGGGAGGAGGAGGTGCCTTCTGTTCCACTGTTTCCAGCAGTGCCCTGGGCATGTTCTGTGAGACCAGGCCAGACCTGGTAGTAGGGGTCCGAGGTCACAATTTGCTCTCTGCTGAGACCTCAGATTGAGTGGTGAGGCTTGCCCTAGCGGCTCCTTTGACATGGTCAGAGTTGGATCAGCACCCAGCACCCACCTGGCCCTGTTGCTCCCCACAGCCAGTTCATGGATTCAATGCAGTTGGATCCCGAGACGGTGGACAACCTTGATGCCTACAGCCACATCCCACCCCAGCTCATGGAGAAGTGCGCGGCTCTCAGCGTCCGGCCCGACACTGTCAGGAACCTTGTACAGTCCATGCAAGGTGAGTAAGGGGCAGAGCAAGCAGGTGGAAGGGAGTGTGGAGGTCATCTGCTGTGGCCTCCTCCGTGTCCCTGGTCACTGAGGATGGAGGCTGCACCCCTCTAGGCCCTGGCTTGGGCATCCACACCCACTCCTCTGAATCAGCATACCTCTTGCACCCTGCTCAGTGTGCGCTGGGCCTCACTTAAGCCCTGACCTGAGGGGGCGGTTCTGTCTCTTGGGGGAGGGGCCCATGGGTGCCCGGTCAGCCTGCCTCAGGGGCTGCCTGTACAATCCACAACCCCAGTGCTGTCAGGTGTGTTCACGGATGTGGAGGCTTCCCTGAAGGACATCAGAGATCTGTTGGAGGAGGATGAGCTGCTAGAGCAGAAGTTTCAGGAGGCGGTGGGCCAGGCAGGGGCCATCTCCATCACCTCCAAGGCTGAGCTGGCAGAGGTGAGGCGAGAATGGGCCAAGTACATGGAAGTCCATGAGAAGGCCTCCTTCACCAACAGTGAGCTGCACCGTGCCATGAACCTGCACGTCGGCAACCTGCGCCTGCTCAGCGGGCCGCTTGACCAGGTCCGGGCTGCCCTGCCCACACCGGCCCTCTCCCCAGGTGAGCCCCACCAGACCCCATTGGGAGACTCGAGCTGGGGGTTTCTCTGGCCTCACTGACCACTGCTGCCCACAGAGGACAAGGCCGTGCTGCAAAACCTAAAGCGCATCCTGGCTAAGGTGCAGGAGATGCGGGACCAGCGCGTGTCCCTGGAGCAGCAGCTGCGTGAGCTTATCCAGAAAGATGACATCACTGCCTCGCTGGTCACCACAGACCACTCAGAGATGAAGGTGGGCTGGGTGAGCAGGGTAGAGGGGCTCTGGCTCCGGGCCCCACCCTTAGGAGTCGAGGCCCTGAGTGTCCGTCCCTGGCCCCCACCCCTTCCTCAGAAGTTGTTCGAGGAGCAGCTGAAAAAGTATGACCAGCTGAAGGTGTACCTGGAGCAGAACCTGGCCGCCCAGGACCGTGTCCTCTGTGCACTGACAGAGGCCAAGGTGCAGTACGCAGCCGTGCGGCGGGTACTCAGCGACTTGGACCAAAAGTCAGTGCCCAGTCCTCTGCTCTTTCCCGGAGCCACCTGGAGCCCAGCCCCATGGTTCACCTGGAGCTGGCCCTTCTGCCCACCAGGTGGAACTCCACGCTGCAGACCCTGGTGGCCTCGTATGAAGCCTATGAGGACCTGATGAAGAAGTCGCAGGAGGGCAGGGACTTCTACGCAGATCTGGAGAGCAAGGTGGCTGCTCTGCTGGAGCGCACGCAGTCCACCTGCCAGGCCCGCGAGGCTGCCCGCCAGCAGCTCCTGGACAGGTTTGTGTGGCCCTGGGGCTGTGGTGCGGCTCGGGTCCAGACAGGCTGGGGTGATGGGAGCCTGGCCCCACTTTTTCCTTGCCTGTCGCACAGGGAGCTGAAGAAGAAGCCGCCGCCACGGCCCACAGCCCCAAAGCCGCTGCTGCCCCGCAGGGAGGAGAGTGAGGCAGTGGAAGCAGGAGACCCCCCTGAGGAGCTGCGCAGCCTCCCCCCTGACATGGTGGCTGGCCCACGACTGCCTGACACCTTCCTGGGAAGTGCCACCCCGCTCCACTTTCCTCCCAGCCCCTTCCCCAGCTCCACAGGCCCAGGACCCCACTATCTCTCAGGCCCCTTGCCCCCTGGTACCTACTCGGGCCCCACCCAGCTGATACAGCCCAGGGCCCCAGGGCCCCATGCAATGCCCGTAGCACCTGGGCCTGCCCTCTACCCAGCCCCTGCCTACACACCGGAGCTGGGCCTTGTGCCCCGATCCTCCCCACAGCATGGCGTGGTGAGCAGTCCCTATGTGGGGGTAGGGCCGGCCCCACCAGTTGCAGGTCTCCCCTCGGCCCCACCTCCTCAATTCTCAGGCCCCGAGTTGGCCATGGCGGTTCGGCCAGCCACCACCACAGTAGATAGCATCCAGGCGCCCATCCCCAGCCACACAGCCCCACGGCCAAACCCCACCCCTGCTCCTCCCCCGCCCTGCTTCCCTGTGCCCCCACCGCAGCCACTGCCCACGCCTTACACCTACCCTGCAGGGGCTAAGCAACCCATCCCGGCACAGCACCACTTCTCTTCTGGGATCCCCGCAGGTTTTCCAGCCCCAAGGATTGGGCCCCAGCCCCAGCCCCATCCTCAGCCCCATCCTTCACAAGCGTTTGGGCCTCAGCCCCCACAGCAGCCCCTTCCACTCCAGCATCCACATCTCTTCCCACCCCAGGCCCCAGGACTCCTACCCCCACAATCCCCCTACCCCTATGCCCCTCAGCCTGGGGTCCTGGGGCAGCCGCCACCCCCCCTACACACCCAGCTCTACCCAGGTCCCGCTCAAGACCCTCTGCCAGCCCACTCAGGGGCTCTGCCTTTCCCCAGCCCTGGGCCCCCTCAGCCTCCCCATCCCCCACTGGCATATGGTCCTGCCCCTTCTACCAGACCCATGGGCCCCCAGGCAGCCCCTCTTACCATTCGAGGGCCCTCGTCTGCTGGCCAGTCCACCCCTAGTCCCCACCTGGTGCCTTCACCTGCCCCATCTCCAGGGCCTGGTCCGGTACCCCCTCGCCCCCCAGCAGCAGAACCACCCCCTTGCCTGCGCCGAGGCGCCGCAGCTGCAGACCTGCTCTCCTCCAGCCCGGAGAGCCAGCATGGCGGCACTCAGTCTCCTGGGGGTGGGCAGCCCCTGCTGCAGCCCACCAAGGTGGATGCAGCTGAGGGTCGTCGGCCGCAGGCCCTGCGGCTGATTGAGCGGGACCCCTATGAGCATCCTGAGAGGCTGCGGCAGTTGCAGCAGGAGCTGGAGGCCTTTCGGGGTCAGCTGGGGGATGTGGGAGCTCTGGACACTGTCTGGCGAGAGCTGCAAGATGCGCAGGAACATGATGCCCGAGGCCGTTCCATCGCCATTGCCCGCTGCTACTCACTGAAGAACCGGCACCAGGATGTCATGCCCTATGACAGTAACCGTGTGGTGCTGCGCTCAGGCAAGGATGACTACATCAATGCCAGCTGCGTGGAGGGGCTCTCCCCATACTGCCC
Task1_train_6726
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.
Pathogenic; Neurodevelopmental disorder with severe motor impairment and absent language
CCTGTCTGGGAAGGAGCAAGCTTTGCAGTGGCTGGAGGGCCATTTGTCAGTGAGGCTGGTGGGTAAAACCCATGAAGTCTGGGGAGAGGGCAGAAGCCTGTTCCTGCAGCAAGGAGCTTGTGTTGGCACCTCCTGTGGTATGAGGACCAGATTCCTGTCCTTTAGGTCCTTATAGCTGATGGTGCCAGCACGCCCAGAGGCAGGGGGTTGGCCCCTGTTGGGGGAAGACTTCTTTAAGGAGGGAGTGTTTGATCTGGGCTCCGAAGGGTGAGCAGAGTCCAGCCATTAGAGGTGACAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCCAGTGGCTTGTTTGATCAAGTTGCATTATAATCGACATTTACAGGAAATTCCACGTGCATCTGTATATGATGGGGTCACAGATGGGTCGGGTGCCATGTAGGGATTGGGAGGCGGGATGGAAGGATTAGGGGAGGAAGGCTTTGATGAGGCAGCAAAGGAAGAGGGAGTCTGTGGGGTGCGTTCTAGCATCGAGGGCCTGGCCTGGCTGGTCTGAGGGTACATGTTGGGAATTCACAGAGGTGACAGTGGCCTATTGTGGTGTTGGGGGGGCTGTAGCCACACAGTGAGTGGTTTCTCCTCAGGGCCTTCTCCAGACGTAGGGCTGTTCTGCTGTGACACATCAGGTTTAGCTTTTCTTGAATTAACTTTATTATTATTTTCTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCACCGTCATGATCTCGGCTCACTGCAACCTGTGTCTCCAGGGTTCAGGCGATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGACTATAGGTGCCGGCCCCCCACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACCCCTGACCTCAGGTGATTTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAATTAACTTTAGTTCATTTTTTAAAACGTTTATTTTGGTAAGTTAACATTTTCCTAGTTCATAATTTCTCCCTCCATCACCATGTCAGCCAAAATCCAAAATCTCTTAGAGATTACTTGGCACAACTTATGCGTTGGAGCTCCTGAGCTTGTCTGGGCTGGTTTTTGGGGAGCCCCAGAGCATAGACTGAGTCTTGCATGTCCCCCTGCAGAGCCTGGGCCTGGTGGACAGGAACAACGAACCGCTTACACACGCCATGTATAACCTGGCCTCTTTGCGTGAGCTGGGTGAGACCCAGCGCCGACCATGCACCATCCAGGTGCCCGAGCCCATCCTCCGCAAGATAGAGACCTTCCTGAACCATGTAAGAGGCCCTGCATCCCTCACCACCCCTGCTCCCTGTAGTCTGCCTCCATCTCTCCAGACTGAAGGCCTCCACCTGCGACAGGCAGTAGTACCTCCCCATTCTCTTCACTGAGTTTGGGGCCTGGGATCCCCCTGGCCTGAACAGCCCAGTCTTGCCCACAAGGATCCCGGGGCAGTCATGGACTAAATTAATCCTCTGCCCAGCGGGTTGGGCCACAACATCTGACCCAGGCGAATCCTGCAGAGTGGCTGGTTGTGTGTGAATGAGGAATTTCTTTTTCATTGTTTTGCTTGCCTCCCTGCCCTCCAGTACCCTGTGGAGAGTTCATGGATCGCCCCAGAACTCCGGCTGCAGAGTGATGACATCTTGCCCTTGGGCAAGGACTCAGGGCCTCTGAGTGACCCTATCACAGGCAAGCCCTATGTGCCCCTGTTGGAAGCAGAGGAGGTACGTCTCAGCCAGAGTCTGCTAGAACTGTGGCGGCGGCGAGGGCCGGTCTGGCAGGAGGCCCCCCAGCTACCTGTGGACCCACATCGGGACACCATCCTCAACGCCATTGAGCAGCACCCGGTGGTGGTCATCTCTGGGGACACGGGCTGTGGGAAGACCACGCGCATCCCCCAGCTGTTGCTGGAGCGCTATGTGACCGAGGGCCGAGGTGCCCGCTGCAATGTTATCATCACCCAACCTCGCCGCATCTCTGCTGTGTCTGTGGCACAGCGGGTCAGCCACGAACTGGGCCCCTCCCTGCGCCGGAATGTGGGCTTCCAGGTGCGGTTGGAAAGTAAGCCCCCATCCCGAGGCGGGGCCCTGCTCTTCTGCACTGTGGGTATCCTGCTGCGTAAGCTGCAGAGCAACCCCAGCCTGGAGGGCGTGAGCCACGTCATCGTGGATGAGGTGCATGAGCGGGACGTGAACACAGACTTTCTGCTGATCCTGCTCAAGGGCCTGCAGCGGCTCAACCCGGCCCTGCGGCTGGTGCTCATGAGTGCCACAGGGGACAATGAGCGCTTCTCCCGATACTTTGGTGGCTGCCCCGTCATCAAGGTGCCTGGCTTCATGTACCCAGTCAAGGAGCACTACCTAGAGGACATCCTGGCCAAGTTGGGCAAGCACCAGTACCTGCACCGGCACCGGCACCATGAGGTGAGGGACACCCCCATCCCACCCAAGGCTCCTGGCCTTTCCTCCGTGGATGCCCCTCCTCCCTGGCCCTGGGGCTTGGTGCCTGGGGCAAGTTACCCTCCCCAGTCCTCGGTTTCCTTGATAGAAACTGGGGACTAACCCTGCCTGCGTGGCACACGTGAGGATTGGAGTTGATGTCAAGCGGCTCCGTCTCACTGAGTCAGGTGGCTGTGTCCTTGGCATGACCCCTTACCCCGGGGCTGTGACTGTGGCCTCTCTTCCCCCACCCCAGTCTGAGGATGAATGCGCACTCGATTTGGACCTTGTGACTGATCTGGTTCTGCACATCGATGCTCGCGGGGAACCAGGTGGGTGCCTCCCCATCTGTCCCATGCTAGCCCTGGCCACGTTTGCAGCAACAGCTGGCTCATGCCCCAGGGCTCCTTTACAGGTGGGATCCTGTGCTTCCTGCCTGGGTGGCAGGAGATCAAAGGAGTGCAGCAGCGCCTCCAGGAGGCCCTGGGCATGCACGAGAGCAAGTACCTCATCCTGCCAGGTGAGAGCCCCGGCGGAGGGACCAGGGACCTTTGGAAACCAGCCTGACCTCTGTCCTAGGGACTGACCCAACTGGGACTCCAGGGGCCCCGGTTTCTGACCAAGCTGTGGCACTTTTCACTGGGCATAGTGTTTATCTGCGCCTGTTTCATCAAAATGGGGTCAAAATCCTTGCCCTGCCCACATTCCAGGGGGGAATTCTGGTGGAAGCAGTGCCCATAACTGGTGTGTGTCTTGCCCACCAGTGCACTCCAACATCCCCATGATGGATCAGAAGGCCATATTCCAGCAGCCTCCAGTTGGGGTGCGCAAGATTGTCTTGGCCACCAACATTGCTGAGACTTCCATCACAATCAATGACATCGTGCATGTGGTGGACAGTGGGCTGCACAAGGAAGAACGCTATGACCTGAAGACCAAGGTGGCACCTACCTCCTGGGCCCGGCCAACCACTGGGGGAGGGACTCCGTTTTGAGGTGGTCCCCAGCCCAGATCTACCTTAGACCTGCTTTGTGTGTCTTCAGAAGGCCGCGCTTGTGGGGTCTCAGTGTTCCTGATGTAGGGGGCTGGTGAGGGTTACTCAGGGAGTGGGGAAGCACTGAGGAAGTGGCATTTGTGTGCTGCTTACTTGCCACCTCCTCCAGGTGTCCTGCCTGGAGACAGTGTGGGTATCAAGAGCCAATGTGATCCAGCGCCGGGGCCGGGCGGGCCGCTGCCAGTCCGGCTTTGCCTACCACTTGTTCCCTCGAAGCCGGCTGGAGAAAATGGTCCCTTTCCAAGTGCCAGAGATCCTGCGCACACCTCTTGAGAACCTGGTGCTGCAAGCGAAAATCCACATGCCTGAGAAGACGGTGCGGCGGGGCGGGGCAGGGGCTGGCCTGGGGACCAGGCAGGTGGGAGGCAGGCTCATGGCGGGCTCTGGCTCTGTCATAGGCGGTGGAGTTCCTGTCCAAGGCTGTGGACAGTCCAAACAT
CCTGTCTGGGAAGGAGCAAGCTTTGCAGTGGCTGGAGGGCCATTTGTCAGTGAGGCTGGTGGGTAAAACCCATGAAGTCTGGGGAGAGGGCAGAAGCCTGTTCCTGCAGCAAGGAGCTTGTGTTGGCACCTCCTGTGGTATGAGGACCAGATTCCTGTCCTTTAGGTCCTTATAGCTGATGGTGCCAGCACGCCCAGAGGCAGGGGGTTGGCCCCTGTTGGGGGAAGACTTCTTTAAGGAGGGAGTGTTTGATCTGGGCTCCGAAGGGTGAGCAGAGTCCAGCCATTAGAGGTGACAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCCAGTGGCTTGTTTGATCAAGTTGCATTATAATCGACATTTACAGGAAATTCCACGTGCATCTGTATATGATGGGGTCACAGATGGGTCGGGTGCCATGTAGGGATTGGGAGGCGGGATGGAAGGATTAGGGGAGGAAGGCTTTGATGAGGCAGCAAAGGAAGAGGGAGTCTGTGGGGTGCGTTCTAGCATCGAGGGCCTGGCCTGGCTGGTCTGAGGGTACATGTTGGGAATTCACAGAGGTGACAGTGGCCTATTGTGGTGTTGGGGGGGCTGTAGCCACACAGTGAGTGGTTTCTCCTCAGGGCCTTCTCCAGACGTAGGGCTGTTCTGCTGTGACACATCAGGTTTAGCTTTTCTTGAATTAACTTTATTATTATTTTCTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCACCGTCATGATCTCGGCTCACTGCAACCTGTGTCTCCAGGGTTCAGGCGATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGACTATAGGTGCCGGCCCCCCACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACCCCTGACCTCAGGTGATTTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAATTAACTTTAGTTCATTTTTTAAAACGTTTATTTTGGTAAGTTAACATTTTCCTAGTTCATAATTTCTCCCTCCATCACCATGTCAGCCAAAATCCAAAATCTCTTAGAGATTACTTGGCACAACTTATGCGTTGGAGCTCCTGAGCTTGTCTGGGCTGGTTTTTGGGGAGCCCCAGAGCATAGACTGAGTCTTGCATGTCCCCCTGCAGAGCCTGGGCCTGGTGGACAGGAACAACGAACCGCTTACACACGCCATGTATAACCTGGCCTCTTTGCGTGAGCTGGGTGAGACCCAGCGCCGACCATGCACCATCCAGGTGCCCGAGCCCATCCTCCGCAAGATAGAGACCTTCCTGAACCATGTAAGAGGCCCTGCATCCCTCACCACCCCTGCTCCCTGTAGTCTGCCTCCATCTCTCCAGACTGAAGGCCTCCACCTGCGACAGGCAGTAGTACCTCCCCATTCTCTTCACTGAGTTTGGGGCCTGGGATCCCCCTGGCCTGAACAGCCCAGTCTTGCCCACAAGGATCCCGGGGCAGTCATGGACTAAATTAATCCTCTGCCCAGCGGGTTGGGCCACAACATCTGACCCAGGCGAATCCTGCAGAGTGGCTGGTTGTGTGTGAATGAGGAATTTCTTTTTCATTGTTTTGCTTGCCTCCCTGCCCTCCAGTACCCTGTGGAGAGTTCATGGATCGCCCCAGAACTCCGGCTGCAGAGTGATGACATCTTGCCCTTGGGCAAGGACTCAGGGCCTCTGAGTGACCCTATCACAGGCAAGCCCTATGTGCCCCTGTTGGAAGCAGAGGAGGTACGTCTCAGCCAGAGTCTGCTAGAACTGTGGCGGCGGCGAGGGCCGGTCTGGCAGGAGGCCCCCCAGCTACCTGTGGACCCACATCGGGACACCATCCTCAACGCCATTGAGCAGCACCCGGTGGTGGTCATCTCTGGGGACACGGGCTGTGGGAAGGCCACGCGCATCCCCCAGCTGTTGCTGGAGCGCTATGTGACCGAGGGCCGAGGTGCCCGCTGCAATGTTATCATCACCCAACCTCGCCGCATCTCTGCTGTGTCTGTGGCACAGCGGGTCAGCCACGAACTGGGCCCCTCCCTGCGCCGGAATGTGGGCTTCCAGGTGCGGTTGGAAAGTAAGCCCCCATCCCGAGGCGGGGCCCTGCTCTTCTGCACTGTGGGTATCCTGCTGCGTAAGCTGCAGAGCAACCCCAGCCTGGAGGGCGTGAGCCACGTCATCGTGGATGAGGTGCATGAGCGGGACGTGAACACAGACTTTCTGCTGATCCTGCTCAAGGGCCTGCAGCGGCTCAACCCGGCCCTGCGGCTGGTGCTCATGAGTGCCACAGGGGACAATGAGCGCTTCTCCCGATACTTTGGTGGCTGCCCCGTCATCAAGGTGCCTGGCTTCATGTACCCAGTCAAGGAGCACTACCTAGAGGACATCCTGGCCAAGTTGGGCAAGCACCAGTACCTGCACCGGCACCGGCACCATGAGGTGAGGGACACCCCCATCCCACCCAAGGCTCCTGGCCTTTCCTCCGTGGATGCCCCTCCTCCCTGGCCCTGGGGCTTGGTGCCTGGGGCAAGTTACCCTCCCCAGTCCTCGGTTTCCTTGATAGAAACTGGGGACTAACCCTGCCTGCGTGGCACACGTGAGGATTGGAGTTGATGTCAAGCGGCTCCGTCTCACTGAGTCAGGTGGCTGTGTCCTTGGCATGACCCCTTACCCCGGGGCTGTGACTGTGGCCTCTCTTCCCCCACCCCAGTCTGAGGATGAATGCGCACTCGATTTGGACCTTGTGACTGATCTGGTTCTGCACATCGATGCTCGCGGGGAACCAGGTGGGTGCCTCCCCATCTGTCCCATGCTAGCCCTGGCCACGTTTGCAGCAACAGCTGGCTCATGCCCCAGGGCTCCTTTACAGGTGGGATCCTGTGCTTCCTGCCTGGGTGGCAGGAGATCAAAGGAGTGCAGCAGCGCCTCCAGGAGGCCCTGGGCATGCACGAGAGCAAGTACCTCATCCTGCCAGGTGAGAGCCCCGGCGGAGGGACCAGGGACCTTTGGAAACCAGCCTGACCTCTGTCCTAGGGACTGACCCAACTGGGACTCCAGGGGCCCCGGTTTCTGACCAAGCTGTGGCACTTTTCACTGGGCATAGTGTTTATCTGCGCCTGTTTCATCAAAATGGGGTCAAAATCCTTGCCCTGCCCACATTCCAGGGGGGAATTCTGGTGGAAGCAGTGCCCATAACTGGTGTGTGTCTTGCCCACCAGTGCACTCCAACATCCCCATGATGGATCAGAAGGCCATATTCCAGCAGCCTCCAGTTGGGGTGCGCAAGATTGTCTTGGCCACCAACATTGCTGAGACTTCCATCACAATCAATGACATCGTGCATGTGGTGGACAGTGGGCTGCACAAGGAAGAACGCTATGACCTGAAGACCAAGGTGGCACCTACCTCCTGGGCCCGGCCAACCACTGGGGGAGGGACTCCGTTTTGAGGTGGTCCCCAGCCCAGATCTACCTTAGACCTGCTTTGTGTGTCTTCAGAAGGCCGCGCTTGTGGGGTCTCAGTGTTCCTGATGTAGGGGGCTGGTGAGGGTTACTCAGGGAGTGGGGAAGCACTGAGGAAGTGGCATTTGTGTGCTGCTTACTTGCCACCTCCTCCAGGTGTCCTGCCTGGAGACAGTGTGGGTATCAAGAGCCAATGTGATCCAGCGCCGGGGCCGGGCGGGCCGCTGCCAGTCCGGCTTTGCCTACCACTTGTTCCCTCGAAGCCGGCTGGAGAAAATGGTCCCTTTCCAAGTGCCAGAGATCCTGCGCACACCTCTTGAGAACCTGGTGCTGCAAGCGAAAATCCACATGCCTGAGAAGACGGTGCGGCGGGGCGGGGCAGGGGCTGGCCTGGGGACCAGGCAGGTGGGAGGCAGGCTCATGGCGGGCTCTGGCTCTGTCATAGGCGGTGGAGTTCCTGTCCAAGGCTGTGGACAGTCCAAACAT
Task1_train_6727
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.
Pathogenic; Neurodevelopmental disorder with severe motor impairment and absent language
GGCAGAAGCCTGTTCCTGCAGCAAGGAGCTTGTGTTGGCACCTCCTGTGGTATGAGGACCAGATTCCTGTCCTTTAGGTCCTTATAGCTGATGGTGCCAGCACGCCCAGAGGCAGGGGGTTGGCCCCTGTTGGGGGAAGACTTCTTTAAGGAGGGAGTGTTTGATCTGGGCTCCGAAGGGTGAGCAGAGTCCAGCCATTAGAGGTGACAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCCAGTGGCTTGTTTGATCAAGTTGCATTATAATCGACATTTACAGGAAATTCCACGTGCATCTGTATATGATGGGGTCACAGATGGGTCGGGTGCCATGTAGGGATTGGGAGGCGGGATGGAAGGATTAGGGGAGGAAGGCTTTGATGAGGCAGCAAAGGAAGAGGGAGTCTGTGGGGTGCGTTCTAGCATCGAGGGCCTGGCCTGGCTGGTCTGAGGGTACATGTTGGGAATTCACAGAGGTGACAGTGGCCTATTGTGGTGTTGGGGGGGCTGTAGCCACACAGTGAGTGGTTTCTCCTCAGGGCCTTCTCCAGACGTAGGGCTGTTCTGCTGTGACACATCAGGTTTAGCTTTTCTTGAATTAACTTTATTATTATTTTCTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCACCGTCATGATCTCGGCTCACTGCAACCTGTGTCTCCAGGGTTCAGGCGATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGACTATAGGTGCCGGCCCCCCACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACCCCTGACCTCAGGTGATTTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAATTAACTTTAGTTCATTTTTTAAAACGTTTATTTTGGTAAGTTAACATTTTCCTAGTTCATAATTTCTCCCTCCATCACCATGTCAGCCAAAATCCAAAATCTCTTAGAGATTACTTGGCACAACTTATGCGTTGGAGCTCCTGAGCTTGTCTGGGCTGGTTTTTGGGGAGCCCCAGAGCATAGACTGAGTCTTGCATGTCCCCCTGCAGAGCCTGGGCCTGGTGGACAGGAACAACGAACCGCTTACACACGCCATGTATAACCTGGCCTCTTTGCGTGAGCTGGGTGAGACCCAGCGCCGACCATGCACCATCCAGGTGCCCGAGCCCATCCTCCGCAAGATAGAGACCTTCCTGAACCATGTAAGAGGCCCTGCATCCCTCACCACCCCTGCTCCCTGTAGTCTGCCTCCATCTCTCCAGACTGAAGGCCTCCACCTGCGACAGGCAGTAGTACCTCCCCATTCTCTTCACTGAGTTTGGGGCCTGGGATCCCCCTGGCCTGAACAGCCCAGTCTTGCCCACAAGGATCCCGGGGCAGTCATGGACTAAATTAATCCTCTGCCCAGCGGGTTGGGCCACAACATCTGACCCAGGCGAATCCTGCAGAGTGGCTGGTTGTGTGTGAATGAGGAATTTCTTTTTCATTGTTTTGCTTGCCTCCCTGCCCTCCAGTACCCTGTGGAGAGTTCATGGATCGCCCCAGAACTCCGGCTGCAGAGTGATGACATCTTGCCCTTGGGCAAGGACTCAGGGCCTCTGAGTGACCCTATCACAGGCAAGCCCTATGTGCCCCTGTTGGAAGCAGAGGAGGTACGTCTCAGCCAGAGTCTGCTAGAACTGTGGCGGCGGCGAGGGCCGGTCTGGCAGGAGGCCCCCCAGCTACCTGTGGACCCACATCGGGACACCATCCTCAACGCCATTGAGCAGCACCCGGTGGTGGTCATCTCTGGGGACACGGGCTGTGGGAAGACCACGCGCATCCCCCAGCTGTTGCTGGAGCGCTATGTGACCGAGGGCCGAGGTGCCCGCTGCAATGTTATCATCACCCAACCTCGCCGCATCTCTGCTGTGTCTGTGGCACAGCGGGTCAGCCACGAACTGGGCCCCTCCCTGCGCCGGAATGTGGGCTTCCAGGTGCGGTTGGAAAGTAAGCCCCCATCCCGAGGCGGGGCCCTGCTCTTCTGCACTGTGGGTATCCTGCTGCGTAAGCTGCAGAGCAACCCCAGCCTGGAGGGCGTGAGCCACGTCATCGTGGATGAGGTGCATGAGCGGGACGTGAACACAGACTTTCTGCTGATCCTGCTCAAGGGCCTGCAGCGGCTCAACCCGGCCCTGCGGCTGGTGCTCATGAGTGCCACAGGGGACAATGAGCGCTTCTCCCGATACTTTGGTGGCTGCCCCGTCATCAAGGTGCCTGGCTTCATGTACCCAGTCAAGGAGCACTACCTAGAGGACATCCTGGCCAAGTTGGGCAAGCACCAGTACCTGCACCGGCACCGGCACCATGAGGTGAGGGACACCCCCATCCCACCCAAGGCTCCTGGCCTTTCCTCCGTGGATGCCCCTCCTCCCTGGCCCTGGGGCTTGGTGCCTGGGGCAAGTTACCCTCCCCAGTCCTCGGTTTCCTTGATAGAAACTGGGGACTAACCCTGCCTGCGTGGCACACGTGAGGATTGGAGTTGATGTCAAGCGGCTCCGTCTCACTGAGTCAGGTGGCTGTGTCCTTGGCATGACCCCTTACCCCGGGGCTGTGACTGTGGCCTCTCTTCCCCCACCCCAGTCTGAGGATGAATGCGCACTCGATTTGGACCTTGTGACTGATCTGGTTCTGCACATCGATGCTCGCGGGGAACCAGGTGGGTGCCTCCCCATCTGTCCCATGCTAGCCCTGGCCACGTTTGCAGCAACAGCTGGCTCATGCCCCAGGGCTCCTTTACAGGTGGGATCCTGTGCTTCCTGCCTGGGTGGCAGGAGATCAAAGGAGTGCAGCAGCGCCTCCAGGAGGCCCTGGGCATGCACGAGAGCAAGTACCTCATCCTGCCAGGTGAGAGCCCCGGCGGAGGGACCAGGGACCTTTGGAAACCAGCCTGACCTCTGTCCTAGGGACTGACCCAACTGGGACTCCAGGGGCCCCGGTTTCTGACCAAGCTGTGGCACTTTTCACTGGGCATAGTGTTTATCTGCGCCTGTTTCATCAAAATGGGGTCAAAATCCTTGCCCTGCCCACATTCCAGGGGGGAATTCTGGTGGAAGCAGTGCCCATAACTGGTGTGTGTCTTGCCCACCAGTGCACTCCAACATCCCCATGATGGATCAGAAGGCCATATTCCAGCAGCCTCCAGTTGGGGTGCGCAAGATTGTCTTGGCCACCAACATTGCTGAGACTTCCATCACAATCAATGACATCGTGCATGTGGTGGACAGTGGGCTGCACAAGGAAGAACGCTATGACCTGAAGACCAAGGTGGCACCTACCTCCTGGGCCCGGCCAACCACTGGGGGAGGGACTCCGTTTTGAGGTGGTCCCCAGCCCAGATCTACCTTAGACCTGCTTTGTGTGTCTTCAGAAGGCCGCGCTTGTGGGGTCTCAGTGTTCCTGATGTAGGGGGCTGGTGAGGGTTACTCAGGGAGTGGGGAAGCACTGAGGAAGTGGCATTTGTGTGCTGCTTACTTGCCACCTCCTCCAGGTGTCCTGCCTGGAGACAGTGTGGGTATCAAGAGCCAATGTGATCCAGCGCCGGGGCCGGGCGGGCCGCTGCCAGTCCGGCTTTGCCTACCACTTGTTCCCTCGAAGCCGGCTGGAGAAAATGGTCCCTTTCCAAGTGCCAGAGATCCTGCGCACACCTCTTGAGAACCTGGTGCTGCAAGCGAAAATCCACATGCCTGAGAAGACGGTGCGGCGGGGCGGGGCAGGGGCTGGCCTGGGGACCAGGCAGGTGGGAGGCAGGCTCATGGCGGGCTCTGGCTCTGTCATAGGCGGTGGAGTTCCTGTCCAAGGCTGTGGACAGTCCAAACATCAAGGCAGTGGACGAGGCTGTGATCTTGCTCCAGGAGATCGGTATGTAGGGGCTGGGCTGGGCTGGGCTGGGGAGTGGCTCTCGAGGG
GGCAGAAGCCTGTTCCTGCAGCAAGGAGCTTGTGTTGGCACCTCCTGTGGTATGAGGACCAGATTCCTGTCCTTTAGGTCCTTATAGCTGATGGTGCCAGCACGCCCAGAGGCAGGGGGTTGGCCCCTGTTGGGGGAAGACTTCTTTAAGGAGGGAGTGTTTGATCTGGGCTCCGAAGGGTGAGCAGAGTCCAGCCATTAGAGGTGACAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCCAGTGGCTTGTTTGATCAAGTTGCATTATAATCGACATTTACAGGAAATTCCACGTGCATCTGTATATGATGGGGTCACAGATGGGTCGGGTGCCATGTAGGGATTGGGAGGCGGGATGGAAGGATTAGGGGAGGAAGGCTTTGATGAGGCAGCAAAGGAAGAGGGAGTCTGTGGGGTGCGTTCTAGCATCGAGGGCCTGGCCTGGCTGGTCTGAGGGTACATGTTGGGAATTCACAGAGGTGACAGTGGCCTATTGTGGTGTTGGGGGGGCTGTAGCCACACAGTGAGTGGTTTCTCCTCAGGGCCTTCTCCAGACGTAGGGCTGTTCTGCTGTGACACATCAGGTTTAGCTTTTCTTGAATTAACTTTATTATTATTTTCTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCACCGTCATGATCTCGGCTCACTGCAACCTGTGTCTCCAGGGTTCAGGCGATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGACTATAGGTGCCGGCCCCCCACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACCCCTGACCTCAGGTGATTTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAATTAACTTTAGTTCATTTTTTAAAACGTTTATTTTGGTAAGTTAACATTTTCCTAGTTCATAATTTCTCCCTCCATCACCATGTCAGCCAAAATCCAAAATCTCTTAGAGATTACTTGGCACAACTTATGCGTTGGAGCTCCTGAGCTTGTCTGGGCTGGTTTTTGGGGAGCCCCAGAGCATAGACTGAGTCTTGCATGTCCCCCTGCAGAGCCTGGGCCTGGTGGACAGGAACAACGAACCGCTTACACACGCCATGTATAACCTGGCCTCTTTGCGTGAGCTGGGTGAGACCCAGCGCCGACCATGCACCATCCAGGTGCCCGAGCCCATCCTCCGCAAGATAGAGACCTTCCTGAACCATGTAAGAGGCCCTGCATCCCTCACCACCCCTGCTCCCTGTAGTCTGCCTCCATCTCTCCAGACTGAAGGCCTCCACCTGCGACAGGCAGTAGTACCTCCCCATTCTCTTCACTGAGTTTGGGGCCTGGGATCCCCCTGGCCTGAACAGCCCAGTCTTGCCCACAAGGATCCCGGGGCAGTCATGGACTAAATTAATCCTCTGCCCAGCGGGTTGGGCCACAACATCTGACCCAGGCGAATCCTGCAGAGTGGCTGGTTGTGTGTGAATGAGGAATTTCTTTTTCATTGTTTTGCTTGCCTCCCTGCCCTCCAGTACCCTGTGGAGAGTTCATGGATCGCCCCAGAACTCCGGCTGCAGAGTGATGACATCTTGCCCTTGGGCAAGGACTCAGGGCCTCTGAGTGACCCTATCACAGGCAAGCCCTATGTGCCCCTGTTGGAAGCAGAGGAGGTACGTCTCAGCCAGAGTCTGCTAGAACTGTGGCGGCGGCGAGGGCCGGTCTGGCAGGAGGCCCCCCAGCTACCTGTGGACCCACATCGGGACACCATCCTCAACGCCATTGAGCAGCACCCGGTGGTGGTCATCTCTGGGGACACGGGCTGTGGGAAGACCACGCGCATCCCCCAGCTGTTGCTGGAGCGCTATGTGACCGAGGGCCGAGGTGCCCGCTGCAATGTTATCATCACCCAACCTCGCCACATCTCTGCTGTGTCTGTGGCACAGCGGGTCAGCCACGAACTGGGCCCCTCCCTGCGCCGGAATGTGGGCTTCCAGGTGCGGTTGGAAAGTAAGCCCCCATCCCGAGGCGGGGCCCTGCTCTTCTGCACTGTGGGTATCCTGCTGCGTAAGCTGCAGAGCAACCCCAGCCTGGAGGGCGTGAGCCACGTCATCGTGGATGAGGTGCATGAGCGGGACGTGAACACAGACTTTCTGCTGATCCTGCTCAAGGGCCTGCAGCGGCTCAACCCGGCCCTGCGGCTGGTGCTCATGAGTGCCACAGGGGACAATGAGCGCTTCTCCCGATACTTTGGTGGCTGCCCCGTCATCAAGGTGCCTGGCTTCATGTACCCAGTCAAGGAGCACTACCTAGAGGACATCCTGGCCAAGTTGGGCAAGCACCAGTACCTGCACCGGCACCGGCACCATGAGGTGAGGGACACCCCCATCCCACCCAAGGCTCCTGGCCTTTCCTCCGTGGATGCCCCTCCTCCCTGGCCCTGGGGCTTGGTGCCTGGGGCAAGTTACCCTCCCCAGTCCTCGGTTTCCTTGATAGAAACTGGGGACTAACCCTGCCTGCGTGGCACACGTGAGGATTGGAGTTGATGTCAAGCGGCTCCGTCTCACTGAGTCAGGTGGCTGTGTCCTTGGCATGACCCCTTACCCCGGGGCTGTGACTGTGGCCTCTCTTCCCCCACCCCAGTCTGAGGATGAATGCGCACTCGATTTGGACCTTGTGACTGATCTGGTTCTGCACATCGATGCTCGCGGGGAACCAGGTGGGTGCCTCCCCATCTGTCCCATGCTAGCCCTGGCCACGTTTGCAGCAACAGCTGGCTCATGCCCCAGGGCTCCTTTACAGGTGGGATCCTGTGCTTCCTGCCTGGGTGGCAGGAGATCAAAGGAGTGCAGCAGCGCCTCCAGGAGGCCCTGGGCATGCACGAGAGCAAGTACCTCATCCTGCCAGGTGAGAGCCCCGGCGGAGGGACCAGGGACCTTTGGAAACCAGCCTGACCTCTGTCCTAGGGACTGACCCAACTGGGACTCCAGGGGCCCCGGTTTCTGACCAAGCTGTGGCACTTTTCACTGGGCATAGTGTTTATCTGCGCCTGTTTCATCAAAATGGGGTCAAAATCCTTGCCCTGCCCACATTCCAGGGGGGAATTCTGGTGGAAGCAGTGCCCATAACTGGTGTGTGTCTTGCCCACCAGTGCACTCCAACATCCCCATGATGGATCAGAAGGCCATATTCCAGCAGCCTCCAGTTGGGGTGCGCAAGATTGTCTTGGCCACCAACATTGCTGAGACTTCCATCACAATCAATGACATCGTGCATGTGGTGGACAGTGGGCTGCACAAGGAAGAACGCTATGACCTGAAGACCAAGGTGGCACCTACCTCCTGGGCCCGGCCAACCACTGGGGGAGGGACTCCGTTTTGAGGTGGTCCCCAGCCCAGATCTACCTTAGACCTGCTTTGTGTGTCTTCAGAAGGCCGCGCTTGTGGGGTCTCAGTGTTCCTGATGTAGGGGGCTGGTGAGGGTTACTCAGGGAGTGGGGAAGCACTGAGGAAGTGGCATTTGTGTGCTGCTTACTTGCCACCTCCTCCAGGTGTCCTGCCTGGAGACAGTGTGGGTATCAAGAGCCAATGTGATCCAGCGCCGGGGCCGGGCGGGCCGCTGCCAGTCCGGCTTTGCCTACCACTTGTTCCCTCGAAGCCGGCTGGAGAAAATGGTCCCTTTCCAAGTGCCAGAGATCCTGCGCACACCTCTTGAGAACCTGGTGCTGCAAGCGAAAATCCACATGCCTGAGAAGACGGTGCGGCGGGGCGGGGCAGGGGCTGGCCTGGGGACCAGGCAGGTGGGAGGCAGGCTCATGGCGGGCTCTGGCTCTGTCATAGGCGGTGGAGTTCCTGTCCAAGGCTGTGGACAGTCCAAACATCAAGGCAGTGGACGAGGCTGTGATCTTGCTCCAGGAGATCGGTATGTAGGGGCTGGGCTGGGCTGGGCTGGGGAGTGGCTCTCGAGGG
Task1_train_6728
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.
Pathogenic; Seizure
GGCAGAAGCCTGTTCCTGCAGCAAGGAGCTTGTGTTGGCACCTCCTGTGGTATGAGGACCAGATTCCTGTCCTTTAGGTCCTTATAGCTGATGGTGCCAGCACGCCCAGAGGCAGGGGGTTGGCCCCTGTTGGGGGAAGACTTCTTTAAGGAGGGAGTGTTTGATCTGGGCTCCGAAGGGTGAGCAGAGTCCAGCCATTAGAGGTGACAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCCAGTGGCTTGTTTGATCAAGTTGCATTATAATCGACATTTACAGGAAATTCCACGTGCATCTGTATATGATGGGGTCACAGATGGGTCGGGTGCCATGTAGGGATTGGGAGGCGGGATGGAAGGATTAGGGGAGGAAGGCTTTGATGAGGCAGCAAAGGAAGAGGGAGTCTGTGGGGTGCGTTCTAGCATCGAGGGCCTGGCCTGGCTGGTCTGAGGGTACATGTTGGGAATTCACAGAGGTGACAGTGGCCTATTGTGGTGTTGGGGGGGCTGTAGCCACACAGTGAGTGGTTTCTCCTCAGGGCCTTCTCCAGACGTAGGGCTGTTCTGCTGTGACACATCAGGTTTAGCTTTTCTTGAATTAACTTTATTATTATTTTCTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCACCGTCATGATCTCGGCTCACTGCAACCTGTGTCTCCAGGGTTCAGGCGATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGACTATAGGTGCCGGCCCCCCACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACCCCTGACCTCAGGTGATTTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAATTAACTTTAGTTCATTTTTTAAAACGTTTATTTTGGTAAGTTAACATTTTCCTAGTTCATAATTTCTCCCTCCATCACCATGTCAGCCAAAATCCAAAATCTCTTAGAGATTACTTGGCACAACTTATGCGTTGGAGCTCCTGAGCTTGTCTGGGCTGGTTTTTGGGGAGCCCCAGAGCATAGACTGAGTCTTGCATGTCCCCCTGCAGAGCCTGGGCCTGGTGGACAGGAACAACGAACCGCTTACACACGCCATGTATAACCTGGCCTCTTTGCGTGAGCTGGGTGAGACCCAGCGCCGACCATGCACCATCCAGGTGCCCGAGCCCATCCTCCGCAAGATAGAGACCTTCCTGAACCATGTAAGAGGCCCTGCATCCCTCACCACCCCTGCTCCCTGTAGTCTGCCTCCATCTCTCCAGACTGAAGGCCTCCACCTGCGACAGGCAGTAGTACCTCCCCATTCTCTTCACTGAGTTTGGGGCCTGGGATCCCCCTGGCCTGAACAGCCCAGTCTTGCCCACAAGGATCCCGGGGCAGTCATGGACTAAATTAATCCTCTGCCCAGCGGGTTGGGCCACAACATCTGACCCAGGCGAATCCTGCAGAGTGGCTGGTTGTGTGTGAATGAGGAATTTCTTTTTCATTGTTTTGCTTGCCTCCCTGCCCTCCAGTACCCTGTGGAGAGTTCATGGATCGCCCCAGAACTCCGGCTGCAGAGTGATGACATCTTGCCCTTGGGCAAGGACTCAGGGCCTCTGAGTGACCCTATCACAGGCAAGCCCTATGTGCCCCTGTTGGAAGCAGAGGAGGTACGTCTCAGCCAGAGTCTGCTAGAACTGTGGCGGCGGCGAGGGCCGGTCTGGCAGGAGGCCCCCCAGCTACCTGTGGACCCACATCGGGACACCATCCTCAACGCCATTGAGCAGCACCCGGTGGTGGTCATCTCTGGGGACACGGGCTGTGGGAAGACCACGCGCATCCCCCAGCTGTTGCTGGAGCGCTATGTGACCGAGGGCCGAGGTGCCCGCTGCAATGTTATCATCACCCAACCTCGCCGCATCTCTGCTGTGTCTGTGGCACAGCGGGTCAGCCACGAACTGGGCCCCTCCCTGCGCCGGAATGTGGGCTTCCAGGTGCGGTTGGAAAGTAAGCCCCCATCCCGAGGCGGGGCCCTGCTCTTCTGCACTGTGGGTATCCTGCTGCGTAAGCTGCAGAGCAACCCCAGCCTGGAGGGCGTGAGCCACGTCATCGTGGATGAGGTGCATGAGCGGGACGTGAACACAGACTTTCTGCTGATCCTGCTCAAGGGCCTGCAGCGGCTCAACCCGGCCCTGCGGCTGGTGCTCATGAGTGCCACAGGGGACAATGAGCGCTTCTCCCGATACTTTGGTGGCTGCCCCGTCATCAAGGTGCCTGGCTTCATGTACCCAGTCAAGGAGCACTACCTAGAGGACATCCTGGCCAAGTTGGGCAAGCACCAGTACCTGCACCGGCACCGGCACCATGAGGTGAGGGACACCCCCATCCCACCCAAGGCTCCTGGCCTTTCCTCCGTGGATGCCCCTCCTCCCTGGCCCTGGGGCTTGGTGCCTGGGGCAAGTTACCCTCCCCAGTCCTCGGTTTCCTTGATAGAAACTGGGGACTAACCCTGCCTGCGTGGCACACGTGAGGATTGGAGTTGATGTCAAGCGGCTCCGTCTCACTGAGTCAGGTGGCTGTGTCCTTGGCATGACCCCTTACCCCGGGGCTGTGACTGTGGCCTCTCTTCCCCCACCCCAGTCTGAGGATGAATGCGCACTCGATTTGGACCTTGTGACTGATCTGGTTCTGCACATCGATGCTCGCGGGGAACCAGGTGGGTGCCTCCCCATCTGTCCCATGCTAGCCCTGGCCACGTTTGCAGCAACAGCTGGCTCATGCCCCAGGGCTCCTTTACAGGTGGGATCCTGTGCTTCCTGCCTGGGTGGCAGGAGATCAAAGGAGTGCAGCAGCGCCTCCAGGAGGCCCTGGGCATGCACGAGAGCAAGTACCTCATCCTGCCAGGTGAGAGCCCCGGCGGAGGGACCAGGGACCTTTGGAAACCAGCCTGACCTCTGTCCTAGGGACTGACCCAACTGGGACTCCAGGGGCCCCGGTTTCTGACCAAGCTGTGGCACTTTTCACTGGGCATAGTGTTTATCTGCGCCTGTTTCATCAAAATGGGGTCAAAATCCTTGCCCTGCCCACATTCCAGGGGGGAATTCTGGTGGAAGCAGTGCCCATAACTGGTGTGTGTCTTGCCCACCAGTGCACTCCAACATCCCCATGATGGATCAGAAGGCCATATTCCAGCAGCCTCCAGTTGGGGTGCGCAAGATTGTCTTGGCCACCAACATTGCTGAGACTTCCATCACAATCAATGACATCGTGCATGTGGTGGACAGTGGGCTGCACAAGGAAGAACGCTATGACCTGAAGACCAAGGTGGCACCTACCTCCTGGGCCCGGCCAACCACTGGGGGAGGGACTCCGTTTTGAGGTGGTCCCCAGCCCAGATCTACCTTAGACCTGCTTTGTGTGTCTTCAGAAGGCCGCGCTTGTGGGGTCTCAGTGTTCCTGATGTAGGGGGCTGGTGAGGGTTACTCAGGGAGTGGGGAAGCACTGAGGAAGTGGCATTTGTGTGCTGCTTACTTGCCACCTCCTCCAGGTGTCCTGCCTGGAGACAGTGTGGGTATCAAGAGCCAATGTGATCCAGCGCCGGGGCCGGGCGGGCCGCTGCCAGTCCGGCTTTGCCTACCACTTGTTCCCTCGAAGCCGGCTGGAGAAAATGGTCCCTTTCCAAGTGCCAGAGATCCTGCGCACACCTCTTGAGAACCTGGTGCTGCAAGCGAAAATCCACATGCCTGAGAAGACGGTGCGGCGGGGCGGGGCAGGGGCTGGCCTGGGGACCAGGCAGGTGGGAGGCAGGCTCATGGCGGGCTCTGGCTCTGTCATAGGCGGTGGAGTTCCTGTCCAAGGCTGTGGACAGTCCAAACATCAAGGCAGTGGACGAGGCTGTGATCTTGCTCCAGGAGATCGGTATGTAGGGGCTGGGCTGGGCTGGGCTGGGGAGTGGCTCTCGAGGG
GGCAGAAGCCTGTTCCTGCAGCAAGGAGCTTGTGTTGGCACCTCCTGTGGTATGAGGACCAGATTCCTGTCCTTTAGGTCCTTATAGCTGATGGTGCCAGCACGCCCAGAGGCAGGGGGTTGGCCCCTGTTGGGGGAAGACTTCTTTAAGGAGGGAGTGTTTGATCTGGGCTCCGAAGGGTGAGCAGAGTCCAGCCATTAGAGGTGACAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCCAGTGGCTTGTTTGATCAAGTTGCATTATAATCGACATTTACAGGAAATTCCACGTGCATCTGTATATGATGGGGTCACAGATGGGTCGGGTGCCATGTAGGGATTGGGAGGCGGGATGGAAGGATTAGGGGAGGAAGGCTTTGATGAGGCAGCAAAGGAAGAGGGAGTCTGTGGGGTGCGTTCTAGCATCGAGGGCCTGGCCTGGCTGGTCTGAGGGTACATGTTGGGAATTCACAGAGGTGACAGTGGCCTATTGTGGTGTTGGGGGGGCTGTAGCCACACAGTGAGTGGTTTCTCCTCAGGGCCTTCTCCAGACGTAGGGCTGTTCTGCTGTGACACATCAGGTTTAGCTTTTCTTGAATTAACTTTATTATTATTTTCTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCACCGTCATGATCTCGGCTCACTGCAACCTGTGTCTCCAGGGTTCAGGCGATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGACTATAGGTGCCGGCCCCCCACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACCCCTGACCTCAGGTGATTTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAATTAACTTTAGTTCATTTTTTAAAACGTTTATTTTGGTAAGTTAACATTTTCCTAGTTCATAATTTCTCCCTCCATCACCATGTCAGCCAAAATCCAAAATCTCTTAGAGATTACTTGGCACAACTTATGCGTTGGAGCTCCTGAGCTTGTCTGGGCTGGTTTTTGGGGAGCCCCAGAGCATAGACTGAGTCTTGCATGTCCCCCTGCAGAGCCTGGGCCTGGTGGACAGGAACAACGAACCGCTTACACACGCCATGTATAACCTGGCCTCTTTGCGTGAGCTGGGTGAGACCCAGCGCCGACCATGCACCATCCAGGTGCCCGAGCCCATCCTCCGCAAGATAGAGACCTTCCTGAACCATGTAAGAGGCCCTGCATCCCTCACCACCCCTGCTCCCTGTAGTCTGCCTCCATCTCTCCAGACTGAAGGCCTCCACCTGCGACAGGCAGTAGTACCTCCCCATTCTCTTCACTGAGTTTGGGGCCTGGGATCCCCCTGGCCTGAACAGCCCAGTCTTGCCCACAAGGATCCCGGGGCAGTCATGGACTAAATTAATCCTCTGCCCAGCGGGTTGGGCCACAACATCTGACCCAGGCGAATCCTGCAGAGTGGCTGGTTGTGTGTGAATGAGGAATTTCTTTTTCATTGTTTTGCTTGCCTCCCTGCCCTCCAGTACCCTGTGGAGAGTTCATGGATCGCCCCAGAACTCCGGCTGCAGAGTGATGACATCTTGCCCTTGGGCAAGGACTCAGGGCCTCTGAGTGACCCTATCACAGGCAAGCCCTATGTGCCCCTGTTGGAAGCAGAGGAGGTACGTCTCAGCCAGAGTCTGCTAGAACTGTGGCGGCGGCGAGGGCCGGTCTGGCAGGAGGCCCCCCAGCTACCTGTGGACCCACATCGGGACACCATCCTCAACGCCATTGAGCAGCACCCGGTGGTGGTCATCTCTGGGGACACGGGCTGTGGGAAGACCACGCGCATCCCCCAGCTGTTGCTGGAGCGCTATGTGACCGAGGGCCGAGGTGCCCGCTGCAATGTTATCATCACCCAACCTCGCCACATCTCTGCTGTGTCTGTGGCACAGCGGGTCAGCCACGAACTGGGCCCCTCCCTGCGCCGGAATGTGGGCTTCCAGGTGCGGTTGGAAAGTAAGCCCCCATCCCGAGGCGGGGCCCTGCTCTTCTGCACTGTGGGTATCCTGCTGCGTAAGCTGCAGAGCAACCCCAGCCTGGAGGGCGTGAGCCACGTCATCGTGGATGAGGTGCATGAGCGGGACGTGAACACAGACTTTCTGCTGATCCTGCTCAAGGGCCTGCAGCGGCTCAACCCGGCCCTGCGGCTGGTGCTCATGAGTGCCACAGGGGACAATGAGCGCTTCTCCCGATACTTTGGTGGCTGCCCCGTCATCAAGGTGCCTGGCTTCATGTACCCAGTCAAGGAGCACTACCTAGAGGACATCCTGGCCAAGTTGGGCAAGCACCAGTACCTGCACCGGCACCGGCACCATGAGGTGAGGGACACCCCCATCCCACCCAAGGCTCCTGGCCTTTCCTCCGTGGATGCCCCTCCTCCCTGGCCCTGGGGCTTGGTGCCTGGGGCAAGTTACCCTCCCCAGTCCTCGGTTTCCTTGATAGAAACTGGGGACTAACCCTGCCTGCGTGGCACACGTGAGGATTGGAGTTGATGTCAAGCGGCTCCGTCTCACTGAGTCAGGTGGCTGTGTCCTTGGCATGACCCCTTACCCCGGGGCTGTGACTGTGGCCTCTCTTCCCCCACCCCAGTCTGAGGATGAATGCGCACTCGATTTGGACCTTGTGACTGATCTGGTTCTGCACATCGATGCTCGCGGGGAACCAGGTGGGTGCCTCCCCATCTGTCCCATGCTAGCCCTGGCCACGTTTGCAGCAACAGCTGGCTCATGCCCCAGGGCTCCTTTACAGGTGGGATCCTGTGCTTCCTGCCTGGGTGGCAGGAGATCAAAGGAGTGCAGCAGCGCCTCCAGGAGGCCCTGGGCATGCACGAGAGCAAGTACCTCATCCTGCCAGGTGAGAGCCCCGGCGGAGGGACCAGGGACCTTTGGAAACCAGCCTGACCTCTGTCCTAGGGACTGACCCAACTGGGACTCCAGGGGCCCCGGTTTCTGACCAAGCTGTGGCACTTTTCACTGGGCATAGTGTTTATCTGCGCCTGTTTCATCAAAATGGGGTCAAAATCCTTGCCCTGCCCACATTCCAGGGGGGAATTCTGGTGGAAGCAGTGCCCATAACTGGTGTGTGTCTTGCCCACCAGTGCACTCCAACATCCCCATGATGGATCAGAAGGCCATATTCCAGCAGCCTCCAGTTGGGGTGCGCAAGATTGTCTTGGCCACCAACATTGCTGAGACTTCCATCACAATCAATGACATCGTGCATGTGGTGGACAGTGGGCTGCACAAGGAAGAACGCTATGACCTGAAGACCAAGGTGGCACCTACCTCCTGGGCCCGGCCAACCACTGGGGGAGGGACTCCGTTTTGAGGTGGTCCCCAGCCCAGATCTACCTTAGACCTGCTTTGTGTGTCTTCAGAAGGCCGCGCTTGTGGGGTCTCAGTGTTCCTGATGTAGGGGGCTGGTGAGGGTTACTCAGGGAGTGGGGAAGCACTGAGGAAGTGGCATTTGTGTGCTGCTTACTTGCCACCTCCTCCAGGTGTCCTGCCTGGAGACAGTGTGGGTATCAAGAGCCAATGTGATCCAGCGCCGGGGCCGGGCGGGCCGCTGCCAGTCCGGCTTTGCCTACCACTTGTTCCCTCGAAGCCGGCTGGAGAAAATGGTCCCTTTCCAAGTGCCAGAGATCCTGCGCACACCTCTTGAGAACCTGGTGCTGCAAGCGAAAATCCACATGCCTGAGAAGACGGTGCGGCGGGGCGGGGCAGGGGCTGGCCTGGGGACCAGGCAGGTGGGAGGCAGGCTCATGGCGGGCTCTGGCTCTGTCATAGGCGGTGGAGTTCCTGTCCAAGGCTGTGGACAGTCCAAACATCAAGGCAGTGGACGAGGCTGTGATCTTGCTCCAGGAGATCGGTATGTAGGGGCTGGGCTGGGCTGGGCTGGGGAGTGGCTCTCGAGGG
Task1_train_6729
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.
Pathogenic; Short stature
GGCAGAAGCCTGTTCCTGCAGCAAGGAGCTTGTGTTGGCACCTCCTGTGGTATGAGGACCAGATTCCTGTCCTTTAGGTCCTTATAGCTGATGGTGCCAGCACGCCCAGAGGCAGGGGGTTGGCCCCTGTTGGGGGAAGACTTCTTTAAGGAGGGAGTGTTTGATCTGGGCTCCGAAGGGTGAGCAGAGTCCAGCCATTAGAGGTGACAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCCAGTGGCTTGTTTGATCAAGTTGCATTATAATCGACATTTACAGGAAATTCCACGTGCATCTGTATATGATGGGGTCACAGATGGGTCGGGTGCCATGTAGGGATTGGGAGGCGGGATGGAAGGATTAGGGGAGGAAGGCTTTGATGAGGCAGCAAAGGAAGAGGGAGTCTGTGGGGTGCGTTCTAGCATCGAGGGCCTGGCCTGGCTGGTCTGAGGGTACATGTTGGGAATTCACAGAGGTGACAGTGGCCTATTGTGGTGTTGGGGGGGCTGTAGCCACACAGTGAGTGGTTTCTCCTCAGGGCCTTCTCCAGACGTAGGGCTGTTCTGCTGTGACACATCAGGTTTAGCTTTTCTTGAATTAACTTTATTATTATTTTCTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCACCGTCATGATCTCGGCTCACTGCAACCTGTGTCTCCAGGGTTCAGGCGATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGACTATAGGTGCCGGCCCCCCACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACCCCTGACCTCAGGTGATTTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAATTAACTTTAGTTCATTTTTTAAAACGTTTATTTTGGTAAGTTAACATTTTCCTAGTTCATAATTTCTCCCTCCATCACCATGTCAGCCAAAATCCAAAATCTCTTAGAGATTACTTGGCACAACTTATGCGTTGGAGCTCCTGAGCTTGTCTGGGCTGGTTTTTGGGGAGCCCCAGAGCATAGACTGAGTCTTGCATGTCCCCCTGCAGAGCCTGGGCCTGGTGGACAGGAACAACGAACCGCTTACACACGCCATGTATAACCTGGCCTCTTTGCGTGAGCTGGGTGAGACCCAGCGCCGACCATGCACCATCCAGGTGCCCGAGCCCATCCTCCGCAAGATAGAGACCTTCCTGAACCATGTAAGAGGCCCTGCATCCCTCACCACCCCTGCTCCCTGTAGTCTGCCTCCATCTCTCCAGACTGAAGGCCTCCACCTGCGACAGGCAGTAGTACCTCCCCATTCTCTTCACTGAGTTTGGGGCCTGGGATCCCCCTGGCCTGAACAGCCCAGTCTTGCCCACAAGGATCCCGGGGCAGTCATGGACTAAATTAATCCTCTGCCCAGCGGGTTGGGCCACAACATCTGACCCAGGCGAATCCTGCAGAGTGGCTGGTTGTGTGTGAATGAGGAATTTCTTTTTCATTGTTTTGCTTGCCTCCCTGCCCTCCAGTACCCTGTGGAGAGTTCATGGATCGCCCCAGAACTCCGGCTGCAGAGTGATGACATCTTGCCCTTGGGCAAGGACTCAGGGCCTCTGAGTGACCCTATCACAGGCAAGCCCTATGTGCCCCTGTTGGAAGCAGAGGAGGTACGTCTCAGCCAGAGTCTGCTAGAACTGTGGCGGCGGCGAGGGCCGGTCTGGCAGGAGGCCCCCCAGCTACCTGTGGACCCACATCGGGACACCATCCTCAACGCCATTGAGCAGCACCCGGTGGTGGTCATCTCTGGGGACACGGGCTGTGGGAAGACCACGCGCATCCCCCAGCTGTTGCTGGAGCGCTATGTGACCGAGGGCCGAGGTGCCCGCTGCAATGTTATCATCACCCAACCTCGCCGCATCTCTGCTGTGTCTGTGGCACAGCGGGTCAGCCACGAACTGGGCCCCTCCCTGCGCCGGAATGTGGGCTTCCAGGTGCGGTTGGAAAGTAAGCCCCCATCCCGAGGCGGGGCCCTGCTCTTCTGCACTGTGGGTATCCTGCTGCGTAAGCTGCAGAGCAACCCCAGCCTGGAGGGCGTGAGCCACGTCATCGTGGATGAGGTGCATGAGCGGGACGTGAACACAGACTTTCTGCTGATCCTGCTCAAGGGCCTGCAGCGGCTCAACCCGGCCCTGCGGCTGGTGCTCATGAGTGCCACAGGGGACAATGAGCGCTTCTCCCGATACTTTGGTGGCTGCCCCGTCATCAAGGTGCCTGGCTTCATGTACCCAGTCAAGGAGCACTACCTAGAGGACATCCTGGCCAAGTTGGGCAAGCACCAGTACCTGCACCGGCACCGGCACCATGAGGTGAGGGACACCCCCATCCCACCCAAGGCTCCTGGCCTTTCCTCCGTGGATGCCCCTCCTCCCTGGCCCTGGGGCTTGGTGCCTGGGGCAAGTTACCCTCCCCAGTCCTCGGTTTCCTTGATAGAAACTGGGGACTAACCCTGCCTGCGTGGCACACGTGAGGATTGGAGTTGATGTCAAGCGGCTCCGTCTCACTGAGTCAGGTGGCTGTGTCCTTGGCATGACCCCTTACCCCGGGGCTGTGACTGTGGCCTCTCTTCCCCCACCCCAGTCTGAGGATGAATGCGCACTCGATTTGGACCTTGTGACTGATCTGGTTCTGCACATCGATGCTCGCGGGGAACCAGGTGGGTGCCTCCCCATCTGTCCCATGCTAGCCCTGGCCACGTTTGCAGCAACAGCTGGCTCATGCCCCAGGGCTCCTTTACAGGTGGGATCCTGTGCTTCCTGCCTGGGTGGCAGGAGATCAAAGGAGTGCAGCAGCGCCTCCAGGAGGCCCTGGGCATGCACGAGAGCAAGTACCTCATCCTGCCAGGTGAGAGCCCCGGCGGAGGGACCAGGGACCTTTGGAAACCAGCCTGACCTCTGTCCTAGGGACTGACCCAACTGGGACTCCAGGGGCCCCGGTTTCTGACCAAGCTGTGGCACTTTTCACTGGGCATAGTGTTTATCTGCGCCTGTTTCATCAAAATGGGGTCAAAATCCTTGCCCTGCCCACATTCCAGGGGGGAATTCTGGTGGAAGCAGTGCCCATAACTGGTGTGTGTCTTGCCCACCAGTGCACTCCAACATCCCCATGATGGATCAGAAGGCCATATTCCAGCAGCCTCCAGTTGGGGTGCGCAAGATTGTCTTGGCCACCAACATTGCTGAGACTTCCATCACAATCAATGACATCGTGCATGTGGTGGACAGTGGGCTGCACAAGGAAGAACGCTATGACCTGAAGACCAAGGTGGCACCTACCTCCTGGGCCCGGCCAACCACTGGGGGAGGGACTCCGTTTTGAGGTGGTCCCCAGCCCAGATCTACCTTAGACCTGCTTTGTGTGTCTTCAGAAGGCCGCGCTTGTGGGGTCTCAGTGTTCCTGATGTAGGGGGCTGGTGAGGGTTACTCAGGGAGTGGGGAAGCACTGAGGAAGTGGCATTTGTGTGCTGCTTACTTGCCACCTCCTCCAGGTGTCCTGCCTGGAGACAGTGTGGGTATCAAGAGCCAATGTGATCCAGCGCCGGGGCCGGGCGGGCCGCTGCCAGTCCGGCTTTGCCTACCACTTGTTCCCTCGAAGCCGGCTGGAGAAAATGGTCCCTTTCCAAGTGCCAGAGATCCTGCGCACACCTCTTGAGAACCTGGTGCTGCAAGCGAAAATCCACATGCCTGAGAAGACGGTGCGGCGGGGCGGGGCAGGGGCTGGCCTGGGGACCAGGCAGGTGGGAGGCAGGCTCATGGCGGGCTCTGGCTCTGTCATAGGCGGTGGAGTTCCTGTCCAAGGCTGTGGACAGTCCAAACATCAAGGCAGTGGACGAGGCTGTGATCTTGCTCCAGGAGATCGGTATGTAGGGGCTGGGCTGGGCTGGGCTGGGGAGTGGCTCTCGAGGG
GGCAGAAGCCTGTTCCTGCAGCAAGGAGCTTGTGTTGGCACCTCCTGTGGTATGAGGACCAGATTCCTGTCCTTTAGGTCCTTATAGCTGATGGTGCCAGCACGCCCAGAGGCAGGGGGTTGGCCCCTGTTGGGGGAAGACTTCTTTAAGGAGGGAGTGTTTGATCTGGGCTCCGAAGGGTGAGCAGAGTCCAGCCATTAGAGGTGACAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCCAGTGGCTTGTTTGATCAAGTTGCATTATAATCGACATTTACAGGAAATTCCACGTGCATCTGTATATGATGGGGTCACAGATGGGTCGGGTGCCATGTAGGGATTGGGAGGCGGGATGGAAGGATTAGGGGAGGAAGGCTTTGATGAGGCAGCAAAGGAAGAGGGAGTCTGTGGGGTGCGTTCTAGCATCGAGGGCCTGGCCTGGCTGGTCTGAGGGTACATGTTGGGAATTCACAGAGGTGACAGTGGCCTATTGTGGTGTTGGGGGGGCTGTAGCCACACAGTGAGTGGTTTCTCCTCAGGGCCTTCTCCAGACGTAGGGCTGTTCTGCTGTGACACATCAGGTTTAGCTTTTCTTGAATTAACTTTATTATTATTTTCTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCACCGTCATGATCTCGGCTCACTGCAACCTGTGTCTCCAGGGTTCAGGCGATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGACTATAGGTGCCGGCCCCCCACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACCCCTGACCTCAGGTGATTTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAATTAACTTTAGTTCATTTTTTAAAACGTTTATTTTGGTAAGTTAACATTTTCCTAGTTCATAATTTCTCCCTCCATCACCATGTCAGCCAAAATCCAAAATCTCTTAGAGATTACTTGGCACAACTTATGCGTTGGAGCTCCTGAGCTTGTCTGGGCTGGTTTTTGGGGAGCCCCAGAGCATAGACTGAGTCTTGCATGTCCCCCTGCAGAGCCTGGGCCTGGTGGACAGGAACAACGAACCGCTTACACACGCCATGTATAACCTGGCCTCTTTGCGTGAGCTGGGTGAGACCCAGCGCCGACCATGCACCATCCAGGTGCCCGAGCCCATCCTCCGCAAGATAGAGACCTTCCTGAACCATGTAAGAGGCCCTGCATCCCTCACCACCCCTGCTCCCTGTAGTCTGCCTCCATCTCTCCAGACTGAAGGCCTCCACCTGCGACAGGCAGTAGTACCTCCCCATTCTCTTCACTGAGTTTGGGGCCTGGGATCCCCCTGGCCTGAACAGCCCAGTCTTGCCCACAAGGATCCCGGGGCAGTCATGGACTAAATTAATCCTCTGCCCAGCGGGTTGGGCCACAACATCTGACCCAGGCGAATCCTGCAGAGTGGCTGGTTGTGTGTGAATGAGGAATTTCTTTTTCATTGTTTTGCTTGCCTCCCTGCCCTCCAGTACCCTGTGGAGAGTTCATGGATCGCCCCAGAACTCCGGCTGCAGAGTGATGACATCTTGCCCTTGGGCAAGGACTCAGGGCCTCTGAGTGACCCTATCACAGGCAAGCCCTATGTGCCCCTGTTGGAAGCAGAGGAGGTACGTCTCAGCCAGAGTCTGCTAGAACTGTGGCGGCGGCGAGGGCCGGTCTGGCAGGAGGCCCCCCAGCTACCTGTGGACCCACATCGGGACACCATCCTCAACGCCATTGAGCAGCACCCGGTGGTGGTCATCTCTGGGGACACGGGCTGTGGGAAGACCACGCGCATCCCCCAGCTGTTGCTGGAGCGCTATGTGACCGAGGGCCGAGGTGCCCGCTGCAATGTTATCATCACCCAACCTCGCCACATCTCTGCTGTGTCTGTGGCACAGCGGGTCAGCCACGAACTGGGCCCCTCCCTGCGCCGGAATGTGGGCTTCCAGGTGCGGTTGGAAAGTAAGCCCCCATCCCGAGGCGGGGCCCTGCTCTTCTGCACTGTGGGTATCCTGCTGCGTAAGCTGCAGAGCAACCCCAGCCTGGAGGGCGTGAGCCACGTCATCGTGGATGAGGTGCATGAGCGGGACGTGAACACAGACTTTCTGCTGATCCTGCTCAAGGGCCTGCAGCGGCTCAACCCGGCCCTGCGGCTGGTGCTCATGAGTGCCACAGGGGACAATGAGCGCTTCTCCCGATACTTTGGTGGCTGCCCCGTCATCAAGGTGCCTGGCTTCATGTACCCAGTCAAGGAGCACTACCTAGAGGACATCCTGGCCAAGTTGGGCAAGCACCAGTACCTGCACCGGCACCGGCACCATGAGGTGAGGGACACCCCCATCCCACCCAAGGCTCCTGGCCTTTCCTCCGTGGATGCCCCTCCTCCCTGGCCCTGGGGCTTGGTGCCTGGGGCAAGTTACCCTCCCCAGTCCTCGGTTTCCTTGATAGAAACTGGGGACTAACCCTGCCTGCGTGGCACACGTGAGGATTGGAGTTGATGTCAAGCGGCTCCGTCTCACTGAGTCAGGTGGCTGTGTCCTTGGCATGACCCCTTACCCCGGGGCTGTGACTGTGGCCTCTCTTCCCCCACCCCAGTCTGAGGATGAATGCGCACTCGATTTGGACCTTGTGACTGATCTGGTTCTGCACATCGATGCTCGCGGGGAACCAGGTGGGTGCCTCCCCATCTGTCCCATGCTAGCCCTGGCCACGTTTGCAGCAACAGCTGGCTCATGCCCCAGGGCTCCTTTACAGGTGGGATCCTGTGCTTCCTGCCTGGGTGGCAGGAGATCAAAGGAGTGCAGCAGCGCCTCCAGGAGGCCCTGGGCATGCACGAGAGCAAGTACCTCATCCTGCCAGGTGAGAGCCCCGGCGGAGGGACCAGGGACCTTTGGAAACCAGCCTGACCTCTGTCCTAGGGACTGACCCAACTGGGACTCCAGGGGCCCCGGTTTCTGACCAAGCTGTGGCACTTTTCACTGGGCATAGTGTTTATCTGCGCCTGTTTCATCAAAATGGGGTCAAAATCCTTGCCCTGCCCACATTCCAGGGGGGAATTCTGGTGGAAGCAGTGCCCATAACTGGTGTGTGTCTTGCCCACCAGTGCACTCCAACATCCCCATGATGGATCAGAAGGCCATATTCCAGCAGCCTCCAGTTGGGGTGCGCAAGATTGTCTTGGCCACCAACATTGCTGAGACTTCCATCACAATCAATGACATCGTGCATGTGGTGGACAGTGGGCTGCACAAGGAAGAACGCTATGACCTGAAGACCAAGGTGGCACCTACCTCCTGGGCCCGGCCAACCACTGGGGGAGGGACTCCGTTTTGAGGTGGTCCCCAGCCCAGATCTACCTTAGACCTGCTTTGTGTGTCTTCAGAAGGCCGCGCTTGTGGGGTCTCAGTGTTCCTGATGTAGGGGGCTGGTGAGGGTTACTCAGGGAGTGGGGAAGCACTGAGGAAGTGGCATTTGTGTGCTGCTTACTTGCCACCTCCTCCAGGTGTCCTGCCTGGAGACAGTGTGGGTATCAAGAGCCAATGTGATCCAGCGCCGGGGCCGGGCGGGCCGCTGCCAGTCCGGCTTTGCCTACCACTTGTTCCCTCGAAGCCGGCTGGAGAAAATGGTCCCTTTCCAAGTGCCAGAGATCCTGCGCACACCTCTTGAGAACCTGGTGCTGCAAGCGAAAATCCACATGCCTGAGAAGACGGTGCGGCGGGGCGGGGCAGGGGCTGGCCTGGGGACCAGGCAGGTGGGAGGCAGGCTCATGGCGGGCTCTGGCTCTGTCATAGGCGGTGGAGTTCCTGTCCAAGGCTGTGGACAGTCCAAACATCAAGGCAGTGGACGAGGCTGTGATCTTGCTCCAGGAGATCGGTATGTAGGGGCTGGGCTGGGCTGGGCTGGGGAGTGGCTCTCGAGGG
Task1_train_6730
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?
Pathogenic; Microcephaly
GGCAGAAGCCTGTTCCTGCAGCAAGGAGCTTGTGTTGGCACCTCCTGTGGTATGAGGACCAGATTCCTGTCCTTTAGGTCCTTATAGCTGATGGTGCCAGCACGCCCAGAGGCAGGGGGTTGGCCCCTGTTGGGGGAAGACTTCTTTAAGGAGGGAGTGTTTGATCTGGGCTCCGAAGGGTGAGCAGAGTCCAGCCATTAGAGGTGACAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCCAGTGGCTTGTTTGATCAAGTTGCATTATAATCGACATTTACAGGAAATTCCACGTGCATCTGTATATGATGGGGTCACAGATGGGTCGGGTGCCATGTAGGGATTGGGAGGCGGGATGGAAGGATTAGGGGAGGAAGGCTTTGATGAGGCAGCAAAGGAAGAGGGAGTCTGTGGGGTGCGTTCTAGCATCGAGGGCCTGGCCTGGCTGGTCTGAGGGTACATGTTGGGAATTCACAGAGGTGACAGTGGCCTATTGTGGTGTTGGGGGGGCTGTAGCCACACAGTGAGTGGTTTCTCCTCAGGGCCTTCTCCAGACGTAGGGCTGTTCTGCTGTGACACATCAGGTTTAGCTTTTCTTGAATTAACTTTATTATTATTTTCTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCACCGTCATGATCTCGGCTCACTGCAACCTGTGTCTCCAGGGTTCAGGCGATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGACTATAGGTGCCGGCCCCCCACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACCCCTGACCTCAGGTGATTTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAATTAACTTTAGTTCATTTTTTAAAACGTTTATTTTGGTAAGTTAACATTTTCCTAGTTCATAATTTCTCCCTCCATCACCATGTCAGCCAAAATCCAAAATCTCTTAGAGATTACTTGGCACAACTTATGCGTTGGAGCTCCTGAGCTTGTCTGGGCTGGTTTTTGGGGAGCCCCAGAGCATAGACTGAGTCTTGCATGTCCCCCTGCAGAGCCTGGGCCTGGTGGACAGGAACAACGAACCGCTTACACACGCCATGTATAACCTGGCCTCTTTGCGTGAGCTGGGTGAGACCCAGCGCCGACCATGCACCATCCAGGTGCCCGAGCCCATCCTCCGCAAGATAGAGACCTTCCTGAACCATGTAAGAGGCCCTGCATCCCTCACCACCCCTGCTCCCTGTAGTCTGCCTCCATCTCTCCAGACTGAAGGCCTCCACCTGCGACAGGCAGTAGTACCTCCCCATTCTCTTCACTGAGTTTGGGGCCTGGGATCCCCCTGGCCTGAACAGCCCAGTCTTGCCCACAAGGATCCCGGGGCAGTCATGGACTAAATTAATCCTCTGCCCAGCGGGTTGGGCCACAACATCTGACCCAGGCGAATCCTGCAGAGTGGCTGGTTGTGTGTGAATGAGGAATTTCTTTTTCATTGTTTTGCTTGCCTCCCTGCCCTCCAGTACCCTGTGGAGAGTTCATGGATCGCCCCAGAACTCCGGCTGCAGAGTGATGACATCTTGCCCTTGGGCAAGGACTCAGGGCCTCTGAGTGACCCTATCACAGGCAAGCCCTATGTGCCCCTGTTGGAAGCAGAGGAGGTACGTCTCAGCCAGAGTCTGCTAGAACTGTGGCGGCGGCGAGGGCCGGTCTGGCAGGAGGCCCCCCAGCTACCTGTGGACCCACATCGGGACACCATCCTCAACGCCATTGAGCAGCACCCGGTGGTGGTCATCTCTGGGGACACGGGCTGTGGGAAGACCACGCGCATCCCCCAGCTGTTGCTGGAGCGCTATGTGACCGAGGGCCGAGGTGCCCGCTGCAATGTTATCATCACCCAACCTCGCCGCATCTCTGCTGTGTCTGTGGCACAGCGGGTCAGCCACGAACTGGGCCCCTCCCTGCGCCGGAATGTGGGCTTCCAGGTGCGGTTGGAAAGTAAGCCCCCATCCCGAGGCGGGGCCCTGCTCTTCTGCACTGTGGGTATCCTGCTGCGTAAGCTGCAGAGCAACCCCAGCCTGGAGGGCGTGAGCCACGTCATCGTGGATGAGGTGCATGAGCGGGACGTGAACACAGACTTTCTGCTGATCCTGCTCAAGGGCCTGCAGCGGCTCAACCCGGCCCTGCGGCTGGTGCTCATGAGTGCCACAGGGGACAATGAGCGCTTCTCCCGATACTTTGGTGGCTGCCCCGTCATCAAGGTGCCTGGCTTCATGTACCCAGTCAAGGAGCACTACCTAGAGGACATCCTGGCCAAGTTGGGCAAGCACCAGTACCTGCACCGGCACCGGCACCATGAGGTGAGGGACACCCCCATCCCACCCAAGGCTCCTGGCCTTTCCTCCGTGGATGCCCCTCCTCCCTGGCCCTGGGGCTTGGTGCCTGGGGCAAGTTACCCTCCCCAGTCCTCGGTTTCCTTGATAGAAACTGGGGACTAACCCTGCCTGCGTGGCACACGTGAGGATTGGAGTTGATGTCAAGCGGCTCCGTCTCACTGAGTCAGGTGGCTGTGTCCTTGGCATGACCCCTTACCCCGGGGCTGTGACTGTGGCCTCTCTTCCCCCACCCCAGTCTGAGGATGAATGCGCACTCGATTTGGACCTTGTGACTGATCTGGTTCTGCACATCGATGCTCGCGGGGAACCAGGTGGGTGCCTCCCCATCTGTCCCATGCTAGCCCTGGCCACGTTTGCAGCAACAGCTGGCTCATGCCCCAGGGCTCCTTTACAGGTGGGATCCTGTGCTTCCTGCCTGGGTGGCAGGAGATCAAAGGAGTGCAGCAGCGCCTCCAGGAGGCCCTGGGCATGCACGAGAGCAAGTACCTCATCCTGCCAGGTGAGAGCCCCGGCGGAGGGACCAGGGACCTTTGGAAACCAGCCTGACCTCTGTCCTAGGGACTGACCCAACTGGGACTCCAGGGGCCCCGGTTTCTGACCAAGCTGTGGCACTTTTCACTGGGCATAGTGTTTATCTGCGCCTGTTTCATCAAAATGGGGTCAAAATCCTTGCCCTGCCCACATTCCAGGGGGGAATTCTGGTGGAAGCAGTGCCCATAACTGGTGTGTGTCTTGCCCACCAGTGCACTCCAACATCCCCATGATGGATCAGAAGGCCATATTCCAGCAGCCTCCAGTTGGGGTGCGCAAGATTGTCTTGGCCACCAACATTGCTGAGACTTCCATCACAATCAATGACATCGTGCATGTGGTGGACAGTGGGCTGCACAAGGAAGAACGCTATGACCTGAAGACCAAGGTGGCACCTACCTCCTGGGCCCGGCCAACCACTGGGGGAGGGACTCCGTTTTGAGGTGGTCCCCAGCCCAGATCTACCTTAGACCTGCTTTGTGTGTCTTCAGAAGGCCGCGCTTGTGGGGTCTCAGTGTTCCTGATGTAGGGGGCTGGTGAGGGTTACTCAGGGAGTGGGGAAGCACTGAGGAAGTGGCATTTGTGTGCTGCTTACTTGCCACCTCCTCCAGGTGTCCTGCCTGGAGACAGTGTGGGTATCAAGAGCCAATGTGATCCAGCGCCGGGGCCGGGCGGGCCGCTGCCAGTCCGGCTTTGCCTACCACTTGTTCCCTCGAAGCCGGCTGGAGAAAATGGTCCCTTTCCAAGTGCCAGAGATCCTGCGCACACCTCTTGAGAACCTGGTGCTGCAAGCGAAAATCCACATGCCTGAGAAGACGGTGCGGCGGGGCGGGGCAGGGGCTGGCCTGGGGACCAGGCAGGTGGGAGGCAGGCTCATGGCGGGCTCTGGCTCTGTCATAGGCGGTGGAGTTCCTGTCCAAGGCTGTGGACAGTCCAAACATCAAGGCAGTGGACGAGGCTGTGATCTTGCTCCAGGAGATCGGTATGTAGGGGCTGGGCTGGGCTGGGCTGGGGAGTGGCTCTCGAGGG
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
GGCAGAAGCCTGTTCCTGCAGCAAGGAGCTTGTGTTGGCACCTCCTGTGGTATGAGGACCAGATTCCTGTCCTTTAGGTCCTTATAGCTGATGGTGCCAGCACGCCCAGAGGCAGGGGGTTGGCCCCTGTTGGGGGAAGACTTCTTTAAGGAGGGAGTGTTTGATCTGGGCTCCGAAGGGTGAGCAGAGTCCAGCCATTAGAGGTGACAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCCAGTGGCTTGTTTGATCAAGTTGCATTATAATCGACATTTACAGGAAATTCCACGTGCATCTGTATATGATGGGGTCACAGATGGGTCGGGTGCCATGTAGGGATTGGGAGGCGGGATGGAAGGATTAGGGGAGGAAGGCTTTGATGAGGCAGCAAAGGAAGAGGGAGTCTGTGGGGTGCGTTCTAGCATCGAGGGCCTGGCCTGGCTGGTCTGAGGGTACATGTTGGGAATTCACAGAGGTGACAGTGGCCTATTGTGGTGTTGGGGGGGCTGTAGCCACACAGTGAGTGGTTTCTCCTCAGGGCCTTCTCCAGACGTAGGGCTGTTCTGCTGTGACACATCAGGTTTAGCTTTTCTTGAATTAACTTTATTATTATTTTCTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCACCGTCATGATCTCGGCTCACTGCAACCTGTGTCTCCAGGGTTCAGGCGATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGACTATAGGTGCCGGCCCCCCACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACCCCTGACCTCAGGTGATTTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAATTAACTTTAGTTCATTTTTTAAAACGTTTATTTTGGTAAGTTAACATTTTCCTAGTTCATAATTTCTCCCTCCATCACCATGTCAGCCAAAATCCAAAATCTCTTAGAGATTACTTGGCACAACTTATGCGTTGGAGCTCCTGAGCTTGTCTGGGCTGGTTTTTGGGGAGCCCCAGAGCATAGACTGAGTCTTGCATGTCCCCCTGCAGAGCCTGGGCCTGGTGGACAGGAACAACGAACCGCTTACACACGCCATGTATAACCTGGCCTCTTTGCGTGAGCTGGGTGAGACCCAGCGCCGACCATGCACCATCCAGGTGCCCGAGCCCATCCTCCGCAAGATAGAGACCTTCCTGAACCATGTAAGAGGCCCTGCATCCCTCACCACCCCTGCTCCCTGTAGTCTGCCTCCATCTCTCCAGACTGAAGGCCTCCACCTGCGACAGGCAGTAGTACCTCCCCATTCTCTTCACTGAGTTTGGGGCCTGGGATCCCCCTGGCCTGAACAGCCCAGTCTTGCCCACAAGGATCCCGGGGCAGTCATGGACTAAATTAATCCTCTGCCCAGCGGGTTGGGCCACAACATCTGACCCAGGCGAATCCTGCAGAGTGGCTGGTTGTGTGTGAATGAGGAATTTCTTTTTCATTGTTTTGCTTGCCTCCCTGCCCTCCAGTACCCTGTGGAGAGTTCATGGATCGCCCCAGAACTCCGGCTGCAGAGTGATGACATCTTGCCCTTGGGCAAGGACTCAGGGCCTCTGAGTGACCCTATCACAGGCAAGCCCTATGTGCCCCTGTTGGAAGCAGAGGAGGTACGTCTCAGCCAGAGTCTGCTAGAACTGTGGCGGCGGCGAGGGCCGGTCTGGCAGGAGGCCCCCCAGCTACCTGTGGACCCACATCGGGACACCATCCTCAACGCCATTGAGCAGCACCCGGTGGTGGTCATCTCTGGGGACACGGGCTGTGGGAAGACCACGCGCATCCCCCAGCTGTTGCTGGAGCGCTATGTGACCGAGGGCCGAGGTGCCCGCTGCAATGTTATCATCACCCAACCTCGCCACATCTCTGCTGTGTCTGTGGCACAGCGGGTCAGCCACGAACTGGGCCCCTCCCTGCGCCGGAATGTGGGCTTCCAGGTGCGGTTGGAAAGTAAGCCCCCATCCCGAGGCGGGGCCCTGCTCTTCTGCACTGTGGGTATCCTGCTGCGTAAGCTGCAGAGCAACCCCAGCCTGGAGGGCGTGAGCCACGTCATCGTGGATGAGGTGCATGAGCGGGACGTGAACACAGACTTTCTGCTGATCCTGCTCAAGGGCCTGCAGCGGCTCAACCCGGCCCTGCGGCTGGTGCTCATGAGTGCCACAGGGGACAATGAGCGCTTCTCCCGATACTTTGGTGGCTGCCCCGTCATCAAGGTGCCTGGCTTCATGTACCCAGTCAAGGAGCACTACCTAGAGGACATCCTGGCCAAGTTGGGCAAGCACCAGTACCTGCACCGGCACCGGCACCATGAGGTGAGGGACACCCCCATCCCACCCAAGGCTCCTGGCCTTTCCTCCGTGGATGCCCCTCCTCCCTGGCCCTGGGGCTTGGTGCCTGGGGCAAGTTACCCTCCCCAGTCCTCGGTTTCCTTGATAGAAACTGGGGACTAACCCTGCCTGCGTGGCACACGTGAGGATTGGAGTTGATGTCAAGCGGCTCCGTCTCACTGAGTCAGGTGGCTGTGTCCTTGGCATGACCCCTTACCCCGGGGCTGTGACTGTGGCCTCTCTTCCCCCACCCCAGTCTGAGGATGAATGCGCACTCGATTTGGACCTTGTGACTGATCTGGTTCTGCACATCGATGCTCGCGGGGAACCAGGTGGGTGCCTCCCCATCTGTCCCATGCTAGCCCTGGCCACGTTTGCAGCAACAGCTGGCTCATGCCCCAGGGCTCCTTTACAGGTGGGATCCTGTGCTTCCTGCCTGGGTGGCAGGAGATCAAAGGAGTGCAGCAGCGCCTCCAGGAGGCCCTGGGCATGCACGAGAGCAAGTACCTCATCCTGCCAGGTGAGAGCCCCGGCGGAGGGACCAGGGACCTTTGGAAACCAGCCTGACCTCTGTCCTAGGGACTGACCCAACTGGGACTCCAGGGGCCCCGGTTTCTGACCAAGCTGTGGCACTTTTCACTGGGCATAGTGTTTATCTGCGCCTGTTTCATCAAAATGGGGTCAAAATCCTTGCCCTGCCCACATTCCAGGGGGGAATTCTGGTGGAAGCAGTGCCCATAACTGGTGTGTGTCTTGCCCACCAGTGCACTCCAACATCCCCATGATGGATCAGAAGGCCATATTCCAGCAGCCTCCAGTTGGGGTGCGCAAGATTGTCTTGGCCACCAACATTGCTGAGACTTCCATCACAATCAATGACATCGTGCATGTGGTGGACAGTGGGCTGCACAAGGAAGAACGCTATGACCTGAAGACCAAGGTGGCACCTACCTCCTGGGCCCGGCCAACCACTGGGGGAGGGACTCCGTTTTGAGGTGGTCCCCAGCCCAGATCTACCTTAGACCTGCTTTGTGTGTCTTCAGAAGGCCGCGCTTGTGGGGTCTCAGTGTTCCTGATGTAGGGGGCTGGTGAGGGTTACTCAGGGAGTGGGGAAGCACTGAGGAAGTGGCATTTGTGTGCTGCTTACTTGCCACCTCCTCCAGGTGTCCTGCCTGGAGACAGTGTGGGTATCAAGAGCCAATGTGATCCAGCGCCGGGGCCGGGCGGGCCGCTGCCAGTCCGGCTTTGCCTACCACTTGTTCCCTCGAAGCCGGCTGGAGAAAATGGTCCCTTTCCAAGTGCCAGAGATCCTGCGCACACCTCTTGAGAACCTGGTGCTGCAAGCGAAAATCCACATGCCTGAGAAGACGGTGCGGCGGGGCGGGGCAGGGGCTGGCCTGGGGACCAGGCAGGTGGGAGGCAGGCTCATGGCGGGCTCTGGCTCTGTCATAGGCGGTGGAGTTCCTGTCCAAGGCTGTGGACAGTCCAAACATCAAGGCAGTGGACGAGGCTGTGATCTTGCTCCAGGAGATCGGTATGTAGGGGCTGGGCTGGGCTGGGCTGGGGAGTGGCTCTCGAGGG
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?
Pathogenic; Oculomotor apraxia
GGCAGAAGCCTGTTCCTGCAGCAAGGAGCTTGTGTTGGCACCTCCTGTGGTATGAGGACCAGATTCCTGTCCTTTAGGTCCTTATAGCTGATGGTGCCAGCACGCCCAGAGGCAGGGGGTTGGCCCCTGTTGGGGGAAGACTTCTTTAAGGAGGGAGTGTTTGATCTGGGCTCCGAAGGGTGAGCAGAGTCCAGCCATTAGAGGTGACAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCCAGTGGCTTGTTTGATCAAGTTGCATTATAATCGACATTTACAGGAAATTCCACGTGCATCTGTATATGATGGGGTCACAGATGGGTCGGGTGCCATGTAGGGATTGGGAGGCGGGATGGAAGGATTAGGGGAGGAAGGCTTTGATGAGGCAGCAAAGGAAGAGGGAGTCTGTGGGGTGCGTTCTAGCATCGAGGGCCTGGCCTGGCTGGTCTGAGGGTACATGTTGGGAATTCACAGAGGTGACAGTGGCCTATTGTGGTGTTGGGGGGGCTGTAGCCACACAGTGAGTGGTTTCTCCTCAGGGCCTTCTCCAGACGTAGGGCTGTTCTGCTGTGACACATCAGGTTTAGCTTTTCTTGAATTAACTTTATTATTATTTTCTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCACCGTCATGATCTCGGCTCACTGCAACCTGTGTCTCCAGGGTTCAGGCGATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGACTATAGGTGCCGGCCCCCCACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACCCCTGACCTCAGGTGATTTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAATTAACTTTAGTTCATTTTTTAAAACGTTTATTTTGGTAAGTTAACATTTTCCTAGTTCATAATTTCTCCCTCCATCACCATGTCAGCCAAAATCCAAAATCTCTTAGAGATTACTTGGCACAACTTATGCGTTGGAGCTCCTGAGCTTGTCTGGGCTGGTTTTTGGGGAGCCCCAGAGCATAGACTGAGTCTTGCATGTCCCCCTGCAGAGCCTGGGCCTGGTGGACAGGAACAACGAACCGCTTACACACGCCATGTATAACCTGGCCTCTTTGCGTGAGCTGGGTGAGACCCAGCGCCGACCATGCACCATCCAGGTGCCCGAGCCCATCCTCCGCAAGATAGAGACCTTCCTGAACCATGTAAGAGGCCCTGCATCCCTCACCACCCCTGCTCCCTGTAGTCTGCCTCCATCTCTCCAGACTGAAGGCCTCCACCTGCGACAGGCAGTAGTACCTCCCCATTCTCTTCACTGAGTTTGGGGCCTGGGATCCCCCTGGCCTGAACAGCCCAGTCTTGCCCACAAGGATCCCGGGGCAGTCATGGACTAAATTAATCCTCTGCCCAGCGGGTTGGGCCACAACATCTGACCCAGGCGAATCCTGCAGAGTGGCTGGTTGTGTGTGAATGAGGAATTTCTTTTTCATTGTTTTGCTTGCCTCCCTGCCCTCCAGTACCCTGTGGAGAGTTCATGGATCGCCCCAGAACTCCGGCTGCAGAGTGATGACATCTTGCCCTTGGGCAAGGACTCAGGGCCTCTGAGTGACCCTATCACAGGCAAGCCCTATGTGCCCCTGTTGGAAGCAGAGGAGGTACGTCTCAGCCAGAGTCTGCTAGAACTGTGGCGGCGGCGAGGGCCGGTCTGGCAGGAGGCCCCCCAGCTACCTGTGGACCCACATCGGGACACCATCCTCAACGCCATTGAGCAGCACCCGGTGGTGGTCATCTCTGGGGACACGGGCTGTGGGAAGACCACGCGCATCCCCCAGCTGTTGCTGGAGCGCTATGTGACCGAGGGCCGAGGTGCCCGCTGCAATGTTATCATCACCCAACCTCGCCGCATCTCTGCTGTGTCTGTGGCACAGCGGGTCAGCCACGAACTGGGCCCCTCCCTGCGCCGGAATGTGGGCTTCCAGGTGCGGTTGGAAAGTAAGCCCCCATCCCGAGGCGGGGCCCTGCTCTTCTGCACTGTGGGTATCCTGCTGCGTAAGCTGCAGAGCAACCCCAGCCTGGAGGGCGTGAGCCACGTCATCGTGGATGAGGTGCATGAGCGGGACGTGAACACAGACTTTCTGCTGATCCTGCTCAAGGGCCTGCAGCGGCTCAACCCGGCCCTGCGGCTGGTGCTCATGAGTGCCACAGGGGACAATGAGCGCTTCTCCCGATACTTTGGTGGCTGCCCCGTCATCAAGGTGCCTGGCTTCATGTACCCAGTCAAGGAGCACTACCTAGAGGACATCCTGGCCAAGTTGGGCAAGCACCAGTACCTGCACCGGCACCGGCACCATGAGGTGAGGGACACCCCCATCCCACCCAAGGCTCCTGGCCTTTCCTCCGTGGATGCCCCTCCTCCCTGGCCCTGGGGCTTGGTGCCTGGGGCAAGTTACCCTCCCCAGTCCTCGGTTTCCTTGATAGAAACTGGGGACTAACCCTGCCTGCGTGGCACACGTGAGGATTGGAGTTGATGTCAAGCGGCTCCGTCTCACTGAGTCAGGTGGCTGTGTCCTTGGCATGACCCCTTACCCCGGGGCTGTGACTGTGGCCTCTCTTCCCCCACCCCAGTCTGAGGATGAATGCGCACTCGATTTGGACCTTGTGACTGATCTGGTTCTGCACATCGATGCTCGCGGGGAACCAGGTGGGTGCCTCCCCATCTGTCCCATGCTAGCCCTGGCCACGTTTGCAGCAACAGCTGGCTCATGCCCCAGGGCTCCTTTACAGGTGGGATCCTGTGCTTCCTGCCTGGGTGGCAGGAGATCAAAGGAGTGCAGCAGCGCCTCCAGGAGGCCCTGGGCATGCACGAGAGCAAGTACCTCATCCTGCCAGGTGAGAGCCCCGGCGGAGGGACCAGGGACCTTTGGAAACCAGCCTGACCTCTGTCCTAGGGACTGACCCAACTGGGACTCCAGGGGCCCCGGTTTCTGACCAAGCTGTGGCACTTTTCACTGGGCATAGTGTTTATCTGCGCCTGTTTCATCAAAATGGGGTCAAAATCCTTGCCCTGCCCACATTCCAGGGGGGAATTCTGGTGGAAGCAGTGCCCATAACTGGTGTGTGTCTTGCCCACCAGTGCACTCCAACATCCCCATGATGGATCAGAAGGCCATATTCCAGCAGCCTCCAGTTGGGGTGCGCAAGATTGTCTTGGCCACCAACATTGCTGAGACTTCCATCACAATCAATGACATCGTGCATGTGGTGGACAGTGGGCTGCACAAGGAAGAACGCTATGACCTGAAGACCAAGGTGGCACCTACCTCCTGGGCCCGGCCAACCACTGGGGGAGGGACTCCGTTTTGAGGTGGTCCCCAGCCCAGATCTACCTTAGACCTGCTTTGTGTGTCTTCAGAAGGCCGCGCTTGTGGGGTCTCAGTGTTCCTGATGTAGGGGGCTGGTGAGGGTTACTCAGGGAGTGGGGAAGCACTGAGGAAGTGGCATTTGTGTGCTGCTTACTTGCCACCTCCTCCAGGTGTCCTGCCTGGAGACAGTGTGGGTATCAAGAGCCAATGTGATCCAGCGCCGGGGCCGGGCGGGCCGCTGCCAGTCCGGCTTTGCCTACCACTTGTTCCCTCGAAGCCGGCTGGAGAAAATGGTCCCTTTCCAAGTGCCAGAGATCCTGCGCACACCTCTTGAGAACCTGGTGCTGCAAGCGAAAATCCACATGCCTGAGAAGACGGTGCGGCGGGGCGGGGCAGGGGCTGGCCTGGGGACCAGGCAGGTGGGAGGCAGGCTCATGGCGGGCTCTGGCTCTGTCATAGGCGGTGGAGTTCCTGTCCAAGGCTGTGGACAGTCCAAACATCAAGGCAGTGGACGAGGCTGTGATCTTGCTCCAGGAGATCGGTATGTAGGGGCTGGGCTGGGCTGGGCTGGGGAGTGGCTCTCGAGGG
GGCAGAAGCCTGTTCCTGCAGCAAGGAGCTTGTGTTGGCACCTCCTGTGGTATGAGGACCAGATTCCTGTCCTTTAGGTCCTTATAGCTGATGGTGCCAGCACGCCCAGAGGCAGGGGGTTGGCCCCTGTTGGGGGAAGACTTCTTTAAGGAGGGAGTGTTTGATCTGGGCTCCGAAGGGTGAGCAGAGTCCAGCCATTAGAGGTGACAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCCAGTGGCTTGTTTGATCAAGTTGCATTATAATCGACATTTACAGGAAATTCCACGTGCATCTGTATATGATGGGGTCACAGATGGGTCGGGTGCCATGTAGGGATTGGGAGGCGGGATGGAAGGATTAGGGGAGGAAGGCTTTGATGAGGCAGCAAAGGAAGAGGGAGTCTGTGGGGTGCGTTCTAGCATCGAGGGCCTGGCCTGGCTGGTCTGAGGGTACATGTTGGGAATTCACAGAGGTGACAGTGGCCTATTGTGGTGTTGGGGGGGCTGTAGCCACACAGTGAGTGGTTTCTCCTCAGGGCCTTCTCCAGACGTAGGGCTGTTCTGCTGTGACACATCAGGTTTAGCTTTTCTTGAATTAACTTTATTATTATTTTCTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCACCGTCATGATCTCGGCTCACTGCAACCTGTGTCTCCAGGGTTCAGGCGATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGACTATAGGTGCCGGCCCCCCACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACCCCTGACCTCAGGTGATTTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAATTAACTTTAGTTCATTTTTTAAAACGTTTATTTTGGTAAGTTAACATTTTCCTAGTTCATAATTTCTCCCTCCATCACCATGTCAGCCAAAATCCAAAATCTCTTAGAGATTACTTGGCACAACTTATGCGTTGGAGCTCCTGAGCTTGTCTGGGCTGGTTTTTGGGGAGCCCCAGAGCATAGACTGAGTCTTGCATGTCCCCCTGCAGAGCCTGGGCCTGGTGGACAGGAACAACGAACCGCTTACACACGCCATGTATAACCTGGCCTCTTTGCGTGAGCTGGGTGAGACCCAGCGCCGACCATGCACCATCCAGGTGCCCGAGCCCATCCTCCGCAAGATAGAGACCTTCCTGAACCATGTAAGAGGCCCTGCATCCCTCACCACCCCTGCTCCCTGTAGTCTGCCTCCATCTCTCCAGACTGAAGGCCTCCACCTGCGACAGGCAGTAGTACCTCCCCATTCTCTTCACTGAGTTTGGGGCCTGGGATCCCCCTGGCCTGAACAGCCCAGTCTTGCCCACAAGGATCCCGGGGCAGTCATGGACTAAATTAATCCTCTGCCCAGCGGGTTGGGCCACAACATCTGACCCAGGCGAATCCTGCAGAGTGGCTGGTTGTGTGTGAATGAGGAATTTCTTTTTCATTGTTTTGCTTGCCTCCCTGCCCTCCAGTACCCTGTGGAGAGTTCATGGATCGCCCCAGAACTCCGGCTGCAGAGTGATGACATCTTGCCCTTGGGCAAGGACTCAGGGCCTCTGAGTGACCCTATCACAGGCAAGCCCTATGTGCCCCTGTTGGAAGCAGAGGAGGTACGTCTCAGCCAGAGTCTGCTAGAACTGTGGCGGCGGCGAGGGCCGGTCTGGCAGGAGGCCCCCCAGCTACCTGTGGACCCACATCGGGACACCATCCTCAACGCCATTGAGCAGCACCCGGTGGTGGTCATCTCTGGGGACACGGGCTGTGGGAAGACCACGCGCATCCCCCAGCTGTTGCTGGAGCGCTATGTGACCGAGGGCCGAGGTGCCCGCTGCAATGTTATCATCACCCAACCTCGCCACATCTCTGCTGTGTCTGTGGCACAGCGGGTCAGCCACGAACTGGGCCCCTCCCTGCGCCGGAATGTGGGCTTCCAGGTGCGGTTGGAAAGTAAGCCCCCATCCCGAGGCGGGGCCCTGCTCTTCTGCACTGTGGGTATCCTGCTGCGTAAGCTGCAGAGCAACCCCAGCCTGGAGGGCGTGAGCCACGTCATCGTGGATGAGGTGCATGAGCGGGACGTGAACACAGACTTTCTGCTGATCCTGCTCAAGGGCCTGCAGCGGCTCAACCCGGCCCTGCGGCTGGTGCTCATGAGTGCCACAGGGGACAATGAGCGCTTCTCCCGATACTTTGGTGGCTGCCCCGTCATCAAGGTGCCTGGCTTCATGTACCCAGTCAAGGAGCACTACCTAGAGGACATCCTGGCCAAGTTGGGCAAGCACCAGTACCTGCACCGGCACCGGCACCATGAGGTGAGGGACACCCCCATCCCACCCAAGGCTCCTGGCCTTTCCTCCGTGGATGCCCCTCCTCCCTGGCCCTGGGGCTTGGTGCCTGGGGCAAGTTACCCTCCCCAGTCCTCGGTTTCCTTGATAGAAACTGGGGACTAACCCTGCCTGCGTGGCACACGTGAGGATTGGAGTTGATGTCAAGCGGCTCCGTCTCACTGAGTCAGGTGGCTGTGTCCTTGGCATGACCCCTTACCCCGGGGCTGTGACTGTGGCCTCTCTTCCCCCACCCCAGTCTGAGGATGAATGCGCACTCGATTTGGACCTTGTGACTGATCTGGTTCTGCACATCGATGCTCGCGGGGAACCAGGTGGGTGCCTCCCCATCTGTCCCATGCTAGCCCTGGCCACGTTTGCAGCAACAGCTGGCTCATGCCCCAGGGCTCCTTTACAGGTGGGATCCTGTGCTTCCTGCCTGGGTGGCAGGAGATCAAAGGAGTGCAGCAGCGCCTCCAGGAGGCCCTGGGCATGCACGAGAGCAAGTACCTCATCCTGCCAGGTGAGAGCCCCGGCGGAGGGACCAGGGACCTTTGGAAACCAGCCTGACCTCTGTCCTAGGGACTGACCCAACTGGGACTCCAGGGGCCCCGGTTTCTGACCAAGCTGTGGCACTTTTCACTGGGCATAGTGTTTATCTGCGCCTGTTTCATCAAAATGGGGTCAAAATCCTTGCCCTGCCCACATTCCAGGGGGGAATTCTGGTGGAAGCAGTGCCCATAACTGGTGTGTGTCTTGCCCACCAGTGCACTCCAACATCCCCATGATGGATCAGAAGGCCATATTCCAGCAGCCTCCAGTTGGGGTGCGCAAGATTGTCTTGGCCACCAACATTGCTGAGACTTCCATCACAATCAATGACATCGTGCATGTGGTGGACAGTGGGCTGCACAAGGAAGAACGCTATGACCTGAAGACCAAGGTGGCACCTACCTCCTGGGCCCGGCCAACCACTGGGGGAGGGACTCCGTTTTGAGGTGGTCCCCAGCCCAGATCTACCTTAGACCTGCTTTGTGTGTCTTCAGAAGGCCGCGCTTGTGGGGTCTCAGTGTTCCTGATGTAGGGGGCTGGTGAGGGTTACTCAGGGAGTGGGGAAGCACTGAGGAAGTGGCATTTGTGTGCTGCTTACTTGCCACCTCCTCCAGGTGTCCTGCCTGGAGACAGTGTGGGTATCAAGAGCCAATGTGATCCAGCGCCGGGGCCGGGCGGGCCGCTGCCAGTCCGGCTTTGCCTACCACTTGTTCCCTCGAAGCCGGCTGGAGAAAATGGTCCCTTTCCAAGTGCCAGAGATCCTGCGCACACCTCTTGAGAACCTGGTGCTGCAAGCGAAAATCCACATGCCTGAGAAGACGGTGCGGCGGGGCGGGGCAGGGGCTGGCCTGGGGACCAGGCAGGTGGGAGGCAGGCTCATGGCGGGCTCTGGCTCTGTCATAGGCGGTGGAGTTCCTGTCCAAGGCTGTGGACAGTCCAAACATCAAGGCAGTGGACGAGGCTGTGATCTTGCTCCAGGAGATCGGTATGTAGGGGCTGGGCTGGGCTGGGCTGGGGAGTGGCTCTCGAGGG
Task1_train_6733
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?
Pathogenic; Unsteady gait
GGCAGAAGCCTGTTCCTGCAGCAAGGAGCTTGTGTTGGCACCTCCTGTGGTATGAGGACCAGATTCCTGTCCTTTAGGTCCTTATAGCTGATGGTGCCAGCACGCCCAGAGGCAGGGGGTTGGCCCCTGTTGGGGGAAGACTTCTTTAAGGAGGGAGTGTTTGATCTGGGCTCCGAAGGGTGAGCAGAGTCCAGCCATTAGAGGTGACAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCCAGTGGCTTGTTTGATCAAGTTGCATTATAATCGACATTTACAGGAAATTCCACGTGCATCTGTATATGATGGGGTCACAGATGGGTCGGGTGCCATGTAGGGATTGGGAGGCGGGATGGAAGGATTAGGGGAGGAAGGCTTTGATGAGGCAGCAAAGGAAGAGGGAGTCTGTGGGGTGCGTTCTAGCATCGAGGGCCTGGCCTGGCTGGTCTGAGGGTACATGTTGGGAATTCACAGAGGTGACAGTGGCCTATTGTGGTGTTGGGGGGGCTGTAGCCACACAGTGAGTGGTTTCTCCTCAGGGCCTTCTCCAGACGTAGGGCTGTTCTGCTGTGACACATCAGGTTTAGCTTTTCTTGAATTAACTTTATTATTATTTTCTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCACCGTCATGATCTCGGCTCACTGCAACCTGTGTCTCCAGGGTTCAGGCGATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGACTATAGGTGCCGGCCCCCCACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACCCCTGACCTCAGGTGATTTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAATTAACTTTAGTTCATTTTTTAAAACGTTTATTTTGGTAAGTTAACATTTTCCTAGTTCATAATTTCTCCCTCCATCACCATGTCAGCCAAAATCCAAAATCTCTTAGAGATTACTTGGCACAACTTATGCGTTGGAGCTCCTGAGCTTGTCTGGGCTGGTTTTTGGGGAGCCCCAGAGCATAGACTGAGTCTTGCATGTCCCCCTGCAGAGCCTGGGCCTGGTGGACAGGAACAACGAACCGCTTACACACGCCATGTATAACCTGGCCTCTTTGCGTGAGCTGGGTGAGACCCAGCGCCGACCATGCACCATCCAGGTGCCCGAGCCCATCCTCCGCAAGATAGAGACCTTCCTGAACCATGTAAGAGGCCCTGCATCCCTCACCACCCCTGCTCCCTGTAGTCTGCCTCCATCTCTCCAGACTGAAGGCCTCCACCTGCGACAGGCAGTAGTACCTCCCCATTCTCTTCACTGAGTTTGGGGCCTGGGATCCCCCTGGCCTGAACAGCCCAGTCTTGCCCACAAGGATCCCGGGGCAGTCATGGACTAAATTAATCCTCTGCCCAGCGGGTTGGGCCACAACATCTGACCCAGGCGAATCCTGCAGAGTGGCTGGTTGTGTGTGAATGAGGAATTTCTTTTTCATTGTTTTGCTTGCCTCCCTGCCCTCCAGTACCCTGTGGAGAGTTCATGGATCGCCCCAGAACTCCGGCTGCAGAGTGATGACATCTTGCCCTTGGGCAAGGACTCAGGGCCTCTGAGTGACCCTATCACAGGCAAGCCCTATGTGCCCCTGTTGGAAGCAGAGGAGGTACGTCTCAGCCAGAGTCTGCTAGAACTGTGGCGGCGGCGAGGGCCGGTCTGGCAGGAGGCCCCCCAGCTACCTGTGGACCCACATCGGGACACCATCCTCAACGCCATTGAGCAGCACCCGGTGGTGGTCATCTCTGGGGACACGGGCTGTGGGAAGACCACGCGCATCCCCCAGCTGTTGCTGGAGCGCTATGTGACCGAGGGCCGAGGTGCCCGCTGCAATGTTATCATCACCCAACCTCGCCGCATCTCTGCTGTGTCTGTGGCACAGCGGGTCAGCCACGAACTGGGCCCCTCCCTGCGCCGGAATGTGGGCTTCCAGGTGCGGTTGGAAAGTAAGCCCCCATCCCGAGGCGGGGCCCTGCTCTTCTGCACTGTGGGTATCCTGCTGCGTAAGCTGCAGAGCAACCCCAGCCTGGAGGGCGTGAGCCACGTCATCGTGGATGAGGTGCATGAGCGGGACGTGAACACAGACTTTCTGCTGATCCTGCTCAAGGGCCTGCAGCGGCTCAACCCGGCCCTGCGGCTGGTGCTCATGAGTGCCACAGGGGACAATGAGCGCTTCTCCCGATACTTTGGTGGCTGCCCCGTCATCAAGGTGCCTGGCTTCATGTACCCAGTCAAGGAGCACTACCTAGAGGACATCCTGGCCAAGTTGGGCAAGCACCAGTACCTGCACCGGCACCGGCACCATGAGGTGAGGGACACCCCCATCCCACCCAAGGCTCCTGGCCTTTCCTCCGTGGATGCCCCTCCTCCCTGGCCCTGGGGCTTGGTGCCTGGGGCAAGTTACCCTCCCCAGTCCTCGGTTTCCTTGATAGAAACTGGGGACTAACCCTGCCTGCGTGGCACACGTGAGGATTGGAGTTGATGTCAAGCGGCTCCGTCTCACTGAGTCAGGTGGCTGTGTCCTTGGCATGACCCCTTACCCCGGGGCTGTGACTGTGGCCTCTCTTCCCCCACCCCAGTCTGAGGATGAATGCGCACTCGATTTGGACCTTGTGACTGATCTGGTTCTGCACATCGATGCTCGCGGGGAACCAGGTGGGTGCCTCCCCATCTGTCCCATGCTAGCCCTGGCCACGTTTGCAGCAACAGCTGGCTCATGCCCCAGGGCTCCTTTACAGGTGGGATCCTGTGCTTCCTGCCTGGGTGGCAGGAGATCAAAGGAGTGCAGCAGCGCCTCCAGGAGGCCCTGGGCATGCACGAGAGCAAGTACCTCATCCTGCCAGGTGAGAGCCCCGGCGGAGGGACCAGGGACCTTTGGAAACCAGCCTGACCTCTGTCCTAGGGACTGACCCAACTGGGACTCCAGGGGCCCCGGTTTCTGACCAAGCTGTGGCACTTTTCACTGGGCATAGTGTTTATCTGCGCCTGTTTCATCAAAATGGGGTCAAAATCCTTGCCCTGCCCACATTCCAGGGGGGAATTCTGGTGGAAGCAGTGCCCATAACTGGTGTGTGTCTTGCCCACCAGTGCACTCCAACATCCCCATGATGGATCAGAAGGCCATATTCCAGCAGCCTCCAGTTGGGGTGCGCAAGATTGTCTTGGCCACCAACATTGCTGAGACTTCCATCACAATCAATGACATCGTGCATGTGGTGGACAGTGGGCTGCACAAGGAAGAACGCTATGACCTGAAGACCAAGGTGGCACCTACCTCCTGGGCCCGGCCAACCACTGGGGGAGGGACTCCGTTTTGAGGTGGTCCCCAGCCCAGATCTACCTTAGACCTGCTTTGTGTGTCTTCAGAAGGCCGCGCTTGTGGGGTCTCAGTGTTCCTGATGTAGGGGGCTGGTGAGGGTTACTCAGGGAGTGGGGAAGCACTGAGGAAGTGGCATTTGTGTGCTGCTTACTTGCCACCTCCTCCAGGTGTCCTGCCTGGAGACAGTGTGGGTATCAAGAGCCAATGTGATCCAGCGCCGGGGCCGGGCGGGCCGCTGCCAGTCCGGCTTTGCCTACCACTTGTTCCCTCGAAGCCGGCTGGAGAAAATGGTCCCTTTCCAAGTGCCAGAGATCCTGCGCACACCTCTTGAGAACCTGGTGCTGCAAGCGAAAATCCACATGCCTGAGAAGACGGTGCGGCGGGGCGGGGCAGGGGCTGGCCTGGGGACCAGGCAGGTGGGAGGCAGGCTCATGGCGGGCTCTGGCTCTGTCATAGGCGGTGGAGTTCCTGTCCAAGGCTGTGGACAGTCCAAACATCAAGGCAGTGGACGAGGCTGTGATCTTGCTCCAGGAGATCGGTATGTAGGGGCTGGGCTGGGCTGGGCTGGGGAGTGGCTCTCGAGGG
GGCAGAAGCCTGTTCCTGCAGCAAGGAGCTTGTGTTGGCACCTCCTGTGGTATGAGGACCAGATTCCTGTCCTTTAGGTCCTTATAGCTGATGGTGCCAGCACGCCCAGAGGCAGGGGGTTGGCCCCTGTTGGGGGAAGACTTCTTTAAGGAGGGAGTGTTTGATCTGGGCTCCGAAGGGTGAGCAGAGTCCAGCCATTAGAGGTGACAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCCAGTGGCTTGTTTGATCAAGTTGCATTATAATCGACATTTACAGGAAATTCCACGTGCATCTGTATATGATGGGGTCACAGATGGGTCGGGTGCCATGTAGGGATTGGGAGGCGGGATGGAAGGATTAGGGGAGGAAGGCTTTGATGAGGCAGCAAAGGAAGAGGGAGTCTGTGGGGTGCGTTCTAGCATCGAGGGCCTGGCCTGGCTGGTCTGAGGGTACATGTTGGGAATTCACAGAGGTGACAGTGGCCTATTGTGGTGTTGGGGGGGCTGTAGCCACACAGTGAGTGGTTTCTCCTCAGGGCCTTCTCCAGACGTAGGGCTGTTCTGCTGTGACACATCAGGTTTAGCTTTTCTTGAATTAACTTTATTATTATTTTCTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCACCGTCATGATCTCGGCTCACTGCAACCTGTGTCTCCAGGGTTCAGGCGATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGACTATAGGTGCCGGCCCCCCACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACCCCTGACCTCAGGTGATTTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAATTAACTTTAGTTCATTTTTTAAAACGTTTATTTTGGTAAGTTAACATTTTCCTAGTTCATAATTTCTCCCTCCATCACCATGTCAGCCAAAATCCAAAATCTCTTAGAGATTACTTGGCACAACTTATGCGTTGGAGCTCCTGAGCTTGTCTGGGCTGGTTTTTGGGGAGCCCCAGAGCATAGACTGAGTCTTGCATGTCCCCCTGCAGAGCCTGGGCCTGGTGGACAGGAACAACGAACCGCTTACACACGCCATGTATAACCTGGCCTCTTTGCGTGAGCTGGGTGAGACCCAGCGCCGACCATGCACCATCCAGGTGCCCGAGCCCATCCTCCGCAAGATAGAGACCTTCCTGAACCATGTAAGAGGCCCTGCATCCCTCACCACCCCTGCTCCCTGTAGTCTGCCTCCATCTCTCCAGACTGAAGGCCTCCACCTGCGACAGGCAGTAGTACCTCCCCATTCTCTTCACTGAGTTTGGGGCCTGGGATCCCCCTGGCCTGAACAGCCCAGTCTTGCCCACAAGGATCCCGGGGCAGTCATGGACTAAATTAATCCTCTGCCCAGCGGGTTGGGCCACAACATCTGACCCAGGCGAATCCTGCAGAGTGGCTGGTTGTGTGTGAATGAGGAATTTCTTTTTCATTGTTTTGCTTGCCTCCCTGCCCTCCAGTACCCTGTGGAGAGTTCATGGATCGCCCCAGAACTCCGGCTGCAGAGTGATGACATCTTGCCCTTGGGCAAGGACTCAGGGCCTCTGAGTGACCCTATCACAGGCAAGCCCTATGTGCCCCTGTTGGAAGCAGAGGAGGTACGTCTCAGCCAGAGTCTGCTAGAACTGTGGCGGCGGCGAGGGCCGGTCTGGCAGGAGGCCCCCCAGCTACCTGTGGACCCACATCGGGACACCATCCTCAACGCCATTGAGCAGCACCCGGTGGTGGTCATCTCTGGGGACACGGGCTGTGGGAAGACCACGCGCATCCCCCAGCTGTTGCTGGAGCGCTATGTGACCGAGGGCCGAGGTGCCCGCTGCAATGTTATCATCACCCAACCTCGCCACATCTCTGCTGTGTCTGTGGCACAGCGGGTCAGCCACGAACTGGGCCCCTCCCTGCGCCGGAATGTGGGCTTCCAGGTGCGGTTGGAAAGTAAGCCCCCATCCCGAGGCGGGGCCCTGCTCTTCTGCACTGTGGGTATCCTGCTGCGTAAGCTGCAGAGCAACCCCAGCCTGGAGGGCGTGAGCCACGTCATCGTGGATGAGGTGCATGAGCGGGACGTGAACACAGACTTTCTGCTGATCCTGCTCAAGGGCCTGCAGCGGCTCAACCCGGCCCTGCGGCTGGTGCTCATGAGTGCCACAGGGGACAATGAGCGCTTCTCCCGATACTTTGGTGGCTGCCCCGTCATCAAGGTGCCTGGCTTCATGTACCCAGTCAAGGAGCACTACCTAGAGGACATCCTGGCCAAGTTGGGCAAGCACCAGTACCTGCACCGGCACCGGCACCATGAGGTGAGGGACACCCCCATCCCACCCAAGGCTCCTGGCCTTTCCTCCGTGGATGCCCCTCCTCCCTGGCCCTGGGGCTTGGTGCCTGGGGCAAGTTACCCTCCCCAGTCCTCGGTTTCCTTGATAGAAACTGGGGACTAACCCTGCCTGCGTGGCACACGTGAGGATTGGAGTTGATGTCAAGCGGCTCCGTCTCACTGAGTCAGGTGGCTGTGTCCTTGGCATGACCCCTTACCCCGGGGCTGTGACTGTGGCCTCTCTTCCCCCACCCCAGTCTGAGGATGAATGCGCACTCGATTTGGACCTTGTGACTGATCTGGTTCTGCACATCGATGCTCGCGGGGAACCAGGTGGGTGCCTCCCCATCTGTCCCATGCTAGCCCTGGCCACGTTTGCAGCAACAGCTGGCTCATGCCCCAGGGCTCCTTTACAGGTGGGATCCTGTGCTTCCTGCCTGGGTGGCAGGAGATCAAAGGAGTGCAGCAGCGCCTCCAGGAGGCCCTGGGCATGCACGAGAGCAAGTACCTCATCCTGCCAGGTGAGAGCCCCGGCGGAGGGACCAGGGACCTTTGGAAACCAGCCTGACCTCTGTCCTAGGGACTGACCCAACTGGGACTCCAGGGGCCCCGGTTTCTGACCAAGCTGTGGCACTTTTCACTGGGCATAGTGTTTATCTGCGCCTGTTTCATCAAAATGGGGTCAAAATCCTTGCCCTGCCCACATTCCAGGGGGGAATTCTGGTGGAAGCAGTGCCCATAACTGGTGTGTGTCTTGCCCACCAGTGCACTCCAACATCCCCATGATGGATCAGAAGGCCATATTCCAGCAGCCTCCAGTTGGGGTGCGCAAGATTGTCTTGGCCACCAACATTGCTGAGACTTCCATCACAATCAATGACATCGTGCATGTGGTGGACAGTGGGCTGCACAAGGAAGAACGCTATGACCTGAAGACCAAGGTGGCACCTACCTCCTGGGCCCGGCCAACCACTGGGGGAGGGACTCCGTTTTGAGGTGGTCCCCAGCCCAGATCTACCTTAGACCTGCTTTGTGTGTCTTCAGAAGGCCGCGCTTGTGGGGTCTCAGTGTTCCTGATGTAGGGGGCTGGTGAGGGTTACTCAGGGAGTGGGGAAGCACTGAGGAAGTGGCATTTGTGTGCTGCTTACTTGCCACCTCCTCCAGGTGTCCTGCCTGGAGACAGTGTGGGTATCAAGAGCCAATGTGATCCAGCGCCGGGGCCGGGCGGGCCGCTGCCAGTCCGGCTTTGCCTACCACTTGTTCCCTCGAAGCCGGCTGGAGAAAATGGTCCCTTTCCAAGTGCCAGAGATCCTGCGCACACCTCTTGAGAACCTGGTGCTGCAAGCGAAAATCCACATGCCTGAGAAGACGGTGCGGCGGGGCGGGGCAGGGGCTGGCCTGGGGACCAGGCAGGTGGGAGGCAGGCTCATGGCGGGCTCTGGCTCTGTCATAGGCGGTGGAGTTCCTGTCCAAGGCTGTGGACAGTCCAAACATCAAGGCAGTGGACGAGGCTGTGATCTTGCTCCAGGAGATCGGTATGTAGGGGCTGGGCTGGGCTGGGCTGGGGAGTGGCTCTCGAGGG
Task1_train_6734
This gene mutation involves DHX30 (DExH-box helicase 30) on Chromosome 3. Is it associated with any clinical condition, or is it benign?
Pathogenic; Global developmental delay
CAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCCAGTGGCTTGTTTGATCAAGTTGCATTATAATCGACATTTACAGGAAATTCCACGTGCATCTGTATATGATGGGGTCACAGATGGGTCGGGTGCCATGTAGGGATTGGGAGGCGGGATGGAAGGATTAGGGGAGGAAGGCTTTGATGAGGCAGCAAAGGAAGAGGGAGTCTGTGGGGTGCGTTCTAGCATCGAGGGCCTGGCCTGGCTGGTCTGAGGGTACATGTTGGGAATTCACAGAGGTGACAGTGGCCTATTGTGGTGTTGGGGGGGCTGTAGCCACACAGTGAGTGGTTTCTCCTCAGGGCCTTCTCCAGACGTAGGGCTGTTCTGCTGTGACACATCAGGTTTAGCTTTTCTTGAATTAACTTTATTATTATTTTCTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCACCGTCATGATCTCGGCTCACTGCAACCTGTGTCTCCAGGGTTCAGGCGATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGACTATAGGTGCCGGCCCCCCACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACCCCTGACCTCAGGTGATTTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAATTAACTTTAGTTCATTTTTTAAAACGTTTATTTTGGTAAGTTAACATTTTCCTAGTTCATAATTTCTCCCTCCATCACCATGTCAGCCAAAATCCAAAATCTCTTAGAGATTACTTGGCACAACTTATGCGTTGGAGCTCCTGAGCTTGTCTGGGCTGGTTTTTGGGGAGCCCCAGAGCATAGACTGAGTCTTGCATGTCCCCCTGCAGAGCCTGGGCCTGGTGGACAGGAACAACGAACCGCTTACACACGCCATGTATAACCTGGCCTCTTTGCGTGAGCTGGGTGAGACCCAGCGCCGACCATGCACCATCCAGGTGCCCGAGCCCATCCTCCGCAAGATAGAGACCTTCCTGAACCATGTAAGAGGCCCTGCATCCCTCACCACCCCTGCTCCCTGTAGTCTGCCTCCATCTCTCCAGACTGAAGGCCTCCACCTGCGACAGGCAGTAGTACCTCCCCATTCTCTTCACTGAGTTTGGGGCCTGGGATCCCCCTGGCCTGAACAGCCCAGTCTTGCCCACAAGGATCCCGGGGCAGTCATGGACTAAATTAATCCTCTGCCCAGCGGGTTGGGCCACAACATCTGACCCAGGCGAATCCTGCAGAGTGGCTGGTTGTGTGTGAATGAGGAATTTCTTTTTCATTGTTTTGCTTGCCTCCCTGCCCTCCAGTACCCTGTGGAGAGTTCATGGATCGCCCCAGAACTCCGGCTGCAGAGTGATGACATCTTGCCCTTGGGCAAGGACTCAGGGCCTCTGAGTGACCCTATCACAGGCAAGCCCTATGTGCCCCTGTTGGAAGCAGAGGAGGTACGTCTCAGCCAGAGTCTGCTAGAACTGTGGCGGCGGCGAGGGCCGGTCTGGCAGGAGGCCCCCCAGCTACCTGTGGACCCACATCGGGACACCATCCTCAACGCCATTGAGCAGCACCCGGTGGTGGTCATCTCTGGGGACACGGGCTGTGGGAAGACCACGCGCATCCCCCAGCTGTTGCTGGAGCGCTATGTGACCGAGGGCCGAGGTGCCCGCTGCAATGTTATCATCACCCAACCTCGCCGCATCTCTGCTGTGTCTGTGGCACAGCGGGTCAGCCACGAACTGGGCCCCTCCCTGCGCCGGAATGTGGGCTTCCAGGTGCGGTTGGAAAGTAAGCCCCCATCCCGAGGCGGGGCCCTGCTCTTCTGCACTGTGGGTATCCTGCTGCGTAAGCTGCAGAGCAACCCCAGCCTGGAGGGCGTGAGCCACGTCATCGTGGATGAGGTGCATGAGCGGGACGTGAACACAGACTTTCTGCTGATCCTGCTCAAGGGCCTGCAGCGGCTCAACCCGGCCCTGCGGCTGGTGCTCATGAGTGCCACAGGGGACAATGAGCGCTTCTCCCGATACTTTGGTGGCTGCCCCGTCATCAAGGTGCCTGGCTTCATGTACCCAGTCAAGGAGCACTACCTAGAGGACATCCTGGCCAAGTTGGGCAAGCACCAGTACCTGCACCGGCACCGGCACCATGAGGTGAGGGACACCCCCATCCCACCCAAGGCTCCTGGCCTTTCCTCCGTGGATGCCCCTCCTCCCTGGCCCTGGGGCTTGGTGCCTGGGGCAAGTTACCCTCCCCAGTCCTCGGTTTCCTTGATAGAAACTGGGGACTAACCCTGCCTGCGTGGCACACGTGAGGATTGGAGTTGATGTCAAGCGGCTCCGTCTCACTGAGTCAGGTGGCTGTGTCCTTGGCATGACCCCTTACCCCGGGGCTGTGACTGTGGCCTCTCTTCCCCCACCCCAGTCTGAGGATGAATGCGCACTCGATTTGGACCTTGTGACTGATCTGGTTCTGCACATCGATGCTCGCGGGGAACCAGGTGGGTGCCTCCCCATCTGTCCCATGCTAGCCCTGGCCACGTTTGCAGCAACAGCTGGCTCATGCCCCAGGGCTCCTTTACAGGTGGGATCCTGTGCTTCCTGCCTGGGTGGCAGGAGATCAAAGGAGTGCAGCAGCGCCTCCAGGAGGCCCTGGGCATGCACGAGAGCAAGTACCTCATCCTGCCAGGTGAGAGCCCCGGCGGAGGGACCAGGGACCTTTGGAAACCAGCCTGACCTCTGTCCTAGGGACTGACCCAACTGGGACTCCAGGGGCCCCGGTTTCTGACCAAGCTGTGGCACTTTTCACTGGGCATAGTGTTTATCTGCGCCTGTTTCATCAAAATGGGGTCAAAATCCTTGCCCTGCCCACATTCCAGGGGGGAATTCTGGTGGAAGCAGTGCCCATAACTGGTGTGTGTCTTGCCCACCAGTGCACTCCAACATCCCCATGATGGATCAGAAGGCCATATTCCAGCAGCCTCCAGTTGGGGTGCGCAAGATTGTCTTGGCCACCAACATTGCTGAGACTTCCATCACAATCAATGACATCGTGCATGTGGTGGACAGTGGGCTGCACAAGGAAGAACGCTATGACCTGAAGACCAAGGTGGCACCTACCTCCTGGGCCCGGCCAACCACTGGGGGAGGGACTCCGTTTTGAGGTGGTCCCCAGCCCAGATCTACCTTAGACCTGCTTTGTGTGTCTTCAGAAGGCCGCGCTTGTGGGGTCTCAGTGTTCCTGATGTAGGGGGCTGGTGAGGGTTACTCAGGGAGTGGGGAAGCACTGAGGAAGTGGCATTTGTGTGCTGCTTACTTGCCACCTCCTCCAGGTGTCCTGCCTGGAGACAGTGTGGGTATCAAGAGCCAATGTGATCCAGCGCCGGGGCCGGGCGGGCCGCTGCCAGTCCGGCTTTGCCTACCACTTGTTCCCTCGAAGCCGGCTGGAGAAAATGGTCCCTTTCCAAGTGCCAGAGATCCTGCGCACACCTCTTGAGAACCTGGTGCTGCAAGCGAAAATCCACATGCCTGAGAAGACGGTGCGGCGGGGCGGGGCAGGGGCTGGCCTGGGGACCAGGCAGGTGGGAGGCAGGCTCATGGCGGGCTCTGGCTCTGTCATAGGCGGTGGAGTTCCTGTCCAAGGCTGTGGACAGTCCAAACATCAAGGCAGTGGACGAGGCTGTGATCTTGCTCCAGGAGATCGGTATGTAGGGGCTGGGCTGGGCTGGGCTGGGGAGTGGCTCTCGAGGGTGGTACTGACAGCTGAGCCGTTGCAGGGGTGCTGGACCAGCGGGAGTACCTGACTACCCTGGGGCAGCGCCTGGCTCACATCTCCACCGACCCCCGGTTGGCCAAGGCCATTGTGTTGGCTGCCATCTTCCGTTGCCTGCACCCACTACTGGTGGTCGTTTCCTGCCTCACCCGGGACCCCTTCAGCAGCAGCCTACAGAACCGGGC
CAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCCAGTGGCTTGTTTGATCAAGTTGCATTATAATCGACATTTACAGGAAATTCCACGTGCATCTGTATATGATGGGGTCACAGATGGGTCGGGTGCCATGTAGGGATTGGGAGGCGGGATGGAAGGATTAGGGGAGGAAGGCTTTGATGAGGCAGCAAAGGAAGAGGGAGTCTGTGGGGTGCGTTCTAGCATCGAGGGCCTGGCCTGGCTGGTCTGAGGGTACATGTTGGGAATTCACAGAGGTGACAGTGGCCTATTGTGGTGTTGGGGGGGCTGTAGCCACACAGTGAGTGGTTTCTCCTCAGGGCCTTCTCCAGACGTAGGGCTGTTCTGCTGTGACACATCAGGTTTAGCTTTTCTTGAATTAACTTTATTATTATTTTCTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCACCGTCATGATCTCGGCTCACTGCAACCTGTGTCTCCAGGGTTCAGGCGATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGACTATAGGTGCCGGCCCCCCACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACCCCTGACCTCAGGTGATTTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAATTAACTTTAGTTCATTTTTTAAAACGTTTATTTTGGTAAGTTAACATTTTCCTAGTTCATAATTTCTCCCTCCATCACCATGTCAGCCAAAATCCAAAATCTCTTAGAGATTACTTGGCACAACTTATGCGTTGGAGCTCCTGAGCTTGTCTGGGCTGGTTTTTGGGGAGCCCCAGAGCATAGACTGAGTCTTGCATGTCCCCCTGCAGAGCCTGGGCCTGGTGGACAGGAACAACGAACCGCTTACACACGCCATGTATAACCTGGCCTCTTTGCGTGAGCTGGGTGAGACCCAGCGCCGACCATGCACCATCCAGGTGCCCGAGCCCATCCTCCGCAAGATAGAGACCTTCCTGAACCATGTAAGAGGCCCTGCATCCCTCACCACCCCTGCTCCCTGTAGTCTGCCTCCATCTCTCCAGACTGAAGGCCTCCACCTGCGACAGGCAGTAGTACCTCCCCATTCTCTTCACTGAGTTTGGGGCCTGGGATCCCCCTGGCCTGAACAGCCCAGTCTTGCCCACAAGGATCCCGGGGCAGTCATGGACTAAATTAATCCTCTGCCCAGCGGGTTGGGCCACAACATCTGACCCAGGCGAATCCTGCAGAGTGGCTGGTTGTGTGTGAATGAGGAATTTCTTTTTCATTGTTTTGCTTGCCTCCCTGCCCTCCAGTACCCTGTGGAGAGTTCATGGATCGCCCCAGAACTCCGGCTGCAGAGTGATGACATCTTGCCCTTGGGCAAGGACTCAGGGCCTCTGAGTGACCCTATCACAGGCAAGCCCTATGTGCCCCTGTTGGAAGCAGAGGAGGTACGTCTCAGCCAGAGTCTGCTAGAACTGTGGCGGCGGCGAGGGCCGGTCTGGCAGGAGGCCCCCCAGCTACCTGTGGACCCACATCGGGACACCATCCTCAACGCCATTGAGCAGCACCCGGTGGTGGTCATCTCTGGGGACACGGGCTGTGGGAAGACCACGCGCATCCCCCAGCTGTTGCTGGAGCGCTATGTGACCGAGGGCCGAGGTGCCCGCTGCAATGTTATCATCACCCAACCTCGCCGCATCTCTGCTGTGTCTGTGGCACAGCGGGTCAGCCACGAACTGGGCCCCTCCCTGCGCCGGAATGTGGGCTTCCAGGTGCGGTTGGAAAGTAAGCCCCCATCCCGAGGCGGGGCCCTGCTCTTCTGCACTGTGGGTATCCTGCTGCGTAAGCTGCAGAGCAACCCCAGCCTGGAGGGCGTGAGCCACGTCATCGTGGATGAGGTGCGTGAGCGGGACGTGAACACAGACTTTCTGCTGATCCTGCTCAAGGGCCTGCAGCGGCTCAACCCGGCCCTGCGGCTGGTGCTCATGAGTGCCACAGGGGACAATGAGCGCTTCTCCCGATACTTTGGTGGCTGCCCCGTCATCAAGGTGCCTGGCTTCATGTACCCAGTCAAGGAGCACTACCTAGAGGACATCCTGGCCAAGTTGGGCAAGCACCAGTACCTGCACCGGCACCGGCACCATGAGGTGAGGGACACCCCCATCCCACCCAAGGCTCCTGGCCTTTCCTCCGTGGATGCCCCTCCTCCCTGGCCCTGGGGCTTGGTGCCTGGGGCAAGTTACCCTCCCCAGTCCTCGGTTTCCTTGATAGAAACTGGGGACTAACCCTGCCTGCGTGGCACACGTGAGGATTGGAGTTGATGTCAAGCGGCTCCGTCTCACTGAGTCAGGTGGCTGTGTCCTTGGCATGACCCCTTACCCCGGGGCTGTGACTGTGGCCTCTCTTCCCCCACCCCAGTCTGAGGATGAATGCGCACTCGATTTGGACCTTGTGACTGATCTGGTTCTGCACATCGATGCTCGCGGGGAACCAGGTGGGTGCCTCCCCATCTGTCCCATGCTAGCCCTGGCCACGTTTGCAGCAACAGCTGGCTCATGCCCCAGGGCTCCTTTACAGGTGGGATCCTGTGCTTCCTGCCTGGGTGGCAGGAGATCAAAGGAGTGCAGCAGCGCCTCCAGGAGGCCCTGGGCATGCACGAGAGCAAGTACCTCATCCTGCCAGGTGAGAGCCCCGGCGGAGGGACCAGGGACCTTTGGAAACCAGCCTGACCTCTGTCCTAGGGACTGACCCAACTGGGACTCCAGGGGCCCCGGTTTCTGACCAAGCTGTGGCACTTTTCACTGGGCATAGTGTTTATCTGCGCCTGTTTCATCAAAATGGGGTCAAAATCCTTGCCCTGCCCACATTCCAGGGGGGAATTCTGGTGGAAGCAGTGCCCATAACTGGTGTGTGTCTTGCCCACCAGTGCACTCCAACATCCCCATGATGGATCAGAAGGCCATATTCCAGCAGCCTCCAGTTGGGGTGCGCAAGATTGTCTTGGCCACCAACATTGCTGAGACTTCCATCACAATCAATGACATCGTGCATGTGGTGGACAGTGGGCTGCACAAGGAAGAACGCTATGACCTGAAGACCAAGGTGGCACCTACCTCCTGGGCCCGGCCAACCACTGGGGGAGGGACTCCGTTTTGAGGTGGTCCCCAGCCCAGATCTACCTTAGACCTGCTTTGTGTGTCTTCAGAAGGCCGCGCTTGTGGGGTCTCAGTGTTCCTGATGTAGGGGGCTGGTGAGGGTTACTCAGGGAGTGGGGAAGCACTGAGGAAGTGGCATTTGTGTGCTGCTTACTTGCCACCTCCTCCAGGTGTCCTGCCTGGAGACAGTGTGGGTATCAAGAGCCAATGTGATCCAGCGCCGGGGCCGGGCGGGCCGCTGCCAGTCCGGCTTTGCCTACCACTTGTTCCCTCGAAGCCGGCTGGAGAAAATGGTCCCTTTCCAAGTGCCAGAGATCCTGCGCACACCTCTTGAGAACCTGGTGCTGCAAGCGAAAATCCACATGCCTGAGAAGACGGTGCGGCGGGGCGGGGCAGGGGCTGGCCTGGGGACCAGGCAGGTGGGAGGCAGGCTCATGGCGGGCTCTGGCTCTGTCATAGGCGGTGGAGTTCCTGTCCAAGGCTGTGGACAGTCCAAACATCAAGGCAGTGGACGAGGCTGTGATCTTGCTCCAGGAGATCGGTATGTAGGGGCTGGGCTGGGCTGGGCTGGGGAGTGGCTCTCGAGGGTGGTACTGACAGCTGAGCCGTTGCAGGGGTGCTGGACCAGCGGGAGTACCTGACTACCCTGGGGCAGCGCCTGGCTCACATCTCCACCGACCCCCGGTTGGCCAAGGCCATTGTGTTGGCTGCCATCTTCCGTTGCCTGCACCCACTACTGGTGGTCGTTTCCTGCCTCACCCGGGACCCCTTCAGCAGCAGCCTACAGAACCGGGC
Task1_train_6735
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.
Pathogenic; Strabismus
CAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCCAGTGGCTTGTTTGATCAAGTTGCATTATAATCGACATTTACAGGAAATTCCACGTGCATCTGTATATGATGGGGTCACAGATGGGTCGGGTGCCATGTAGGGATTGGGAGGCGGGATGGAAGGATTAGGGGAGGAAGGCTTTGATGAGGCAGCAAAGGAAGAGGGAGTCTGTGGGGTGCGTTCTAGCATCGAGGGCCTGGCCTGGCTGGTCTGAGGGTACATGTTGGGAATTCACAGAGGTGACAGTGGCCTATTGTGGTGTTGGGGGGGCTGTAGCCACACAGTGAGTGGTTTCTCCTCAGGGCCTTCTCCAGACGTAGGGCTGTTCTGCTGTGACACATCAGGTTTAGCTTTTCTTGAATTAACTTTATTATTATTTTCTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCACCGTCATGATCTCGGCTCACTGCAACCTGTGTCTCCAGGGTTCAGGCGATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGACTATAGGTGCCGGCCCCCCACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACCCCTGACCTCAGGTGATTTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAATTAACTTTAGTTCATTTTTTAAAACGTTTATTTTGGTAAGTTAACATTTTCCTAGTTCATAATTTCTCCCTCCATCACCATGTCAGCCAAAATCCAAAATCTCTTAGAGATTACTTGGCACAACTTATGCGTTGGAGCTCCTGAGCTTGTCTGGGCTGGTTTTTGGGGAGCCCCAGAGCATAGACTGAGTCTTGCATGTCCCCCTGCAGAGCCTGGGCCTGGTGGACAGGAACAACGAACCGCTTACACACGCCATGTATAACCTGGCCTCTTTGCGTGAGCTGGGTGAGACCCAGCGCCGACCATGCACCATCCAGGTGCCCGAGCCCATCCTCCGCAAGATAGAGACCTTCCTGAACCATGTAAGAGGCCCTGCATCCCTCACCACCCCTGCTCCCTGTAGTCTGCCTCCATCTCTCCAGACTGAAGGCCTCCACCTGCGACAGGCAGTAGTACCTCCCCATTCTCTTCACTGAGTTTGGGGCCTGGGATCCCCCTGGCCTGAACAGCCCAGTCTTGCCCACAAGGATCCCGGGGCAGTCATGGACTAAATTAATCCTCTGCCCAGCGGGTTGGGCCACAACATCTGACCCAGGCGAATCCTGCAGAGTGGCTGGTTGTGTGTGAATGAGGAATTTCTTTTTCATTGTTTTGCTTGCCTCCCTGCCCTCCAGTACCCTGTGGAGAGTTCATGGATCGCCCCAGAACTCCGGCTGCAGAGTGATGACATCTTGCCCTTGGGCAAGGACTCAGGGCCTCTGAGTGACCCTATCACAGGCAAGCCCTATGTGCCCCTGTTGGAAGCAGAGGAGGTACGTCTCAGCCAGAGTCTGCTAGAACTGTGGCGGCGGCGAGGGCCGGTCTGGCAGGAGGCCCCCCAGCTACCTGTGGACCCACATCGGGACACCATCCTCAACGCCATTGAGCAGCACCCGGTGGTGGTCATCTCTGGGGACACGGGCTGTGGGAAGACCACGCGCATCCCCCAGCTGTTGCTGGAGCGCTATGTGACCGAGGGCCGAGGTGCCCGCTGCAATGTTATCATCACCCAACCTCGCCGCATCTCTGCTGTGTCTGTGGCACAGCGGGTCAGCCACGAACTGGGCCCCTCCCTGCGCCGGAATGTGGGCTTCCAGGTGCGGTTGGAAAGTAAGCCCCCATCCCGAGGCGGGGCCCTGCTCTTCTGCACTGTGGGTATCCTGCTGCGTAAGCTGCAGAGCAACCCCAGCCTGGAGGGCGTGAGCCACGTCATCGTGGATGAGGTGCATGAGCGGGACGTGAACACAGACTTTCTGCTGATCCTGCTCAAGGGCCTGCAGCGGCTCAACCCGGCCCTGCGGCTGGTGCTCATGAGTGCCACAGGGGACAATGAGCGCTTCTCCCGATACTTTGGTGGCTGCCCCGTCATCAAGGTGCCTGGCTTCATGTACCCAGTCAAGGAGCACTACCTAGAGGACATCCTGGCCAAGTTGGGCAAGCACCAGTACCTGCACCGGCACCGGCACCATGAGGTGAGGGACACCCCCATCCCACCCAAGGCTCCTGGCCTTTCCTCCGTGGATGCCCCTCCTCCCTGGCCCTGGGGCTTGGTGCCTGGGGCAAGTTACCCTCCCCAGTCCTCGGTTTCCTTGATAGAAACTGGGGACTAACCCTGCCTGCGTGGCACACGTGAGGATTGGAGTTGATGTCAAGCGGCTCCGTCTCACTGAGTCAGGTGGCTGTGTCCTTGGCATGACCCCTTACCCCGGGGCTGTGACTGTGGCCTCTCTTCCCCCACCCCAGTCTGAGGATGAATGCGCACTCGATTTGGACCTTGTGACTGATCTGGTTCTGCACATCGATGCTCGCGGGGAACCAGGTGGGTGCCTCCCCATCTGTCCCATGCTAGCCCTGGCCACGTTTGCAGCAACAGCTGGCTCATGCCCCAGGGCTCCTTTACAGGTGGGATCCTGTGCTTCCTGCCTGGGTGGCAGGAGATCAAAGGAGTGCAGCAGCGCCTCCAGGAGGCCCTGGGCATGCACGAGAGCAAGTACCTCATCCTGCCAGGTGAGAGCCCCGGCGGAGGGACCAGGGACCTTTGGAAACCAGCCTGACCTCTGTCCTAGGGACTGACCCAACTGGGACTCCAGGGGCCCCGGTTTCTGACCAAGCTGTGGCACTTTTCACTGGGCATAGTGTTTATCTGCGCCTGTTTCATCAAAATGGGGTCAAAATCCTTGCCCTGCCCACATTCCAGGGGGGAATTCTGGTGGAAGCAGTGCCCATAACTGGTGTGTGTCTTGCCCACCAGTGCACTCCAACATCCCCATGATGGATCAGAAGGCCATATTCCAGCAGCCTCCAGTTGGGGTGCGCAAGATTGTCTTGGCCACCAACATTGCTGAGACTTCCATCACAATCAATGACATCGTGCATGTGGTGGACAGTGGGCTGCACAAGGAAGAACGCTATGACCTGAAGACCAAGGTGGCACCTACCTCCTGGGCCCGGCCAACCACTGGGGGAGGGACTCCGTTTTGAGGTGGTCCCCAGCCCAGATCTACCTTAGACCTGCTTTGTGTGTCTTCAGAAGGCCGCGCTTGTGGGGTCTCAGTGTTCCTGATGTAGGGGGCTGGTGAGGGTTACTCAGGGAGTGGGGAAGCACTGAGGAAGTGGCATTTGTGTGCTGCTTACTTGCCACCTCCTCCAGGTGTCCTGCCTGGAGACAGTGTGGGTATCAAGAGCCAATGTGATCCAGCGCCGGGGCCGGGCGGGCCGCTGCCAGTCCGGCTTTGCCTACCACTTGTTCCCTCGAAGCCGGCTGGAGAAAATGGTCCCTTTCCAAGTGCCAGAGATCCTGCGCACACCTCTTGAGAACCTGGTGCTGCAAGCGAAAATCCACATGCCTGAGAAGACGGTGCGGCGGGGCGGGGCAGGGGCTGGCCTGGGGACCAGGCAGGTGGGAGGCAGGCTCATGGCGGGCTCTGGCTCTGTCATAGGCGGTGGAGTTCCTGTCCAAGGCTGTGGACAGTCCAAACATCAAGGCAGTGGACGAGGCTGTGATCTTGCTCCAGGAGATCGGTATGTAGGGGCTGGGCTGGGCTGGGCTGGGGAGTGGCTCTCGAGGGTGGTACTGACAGCTGAGCCGTTGCAGGGGTGCTGGACCAGCGGGAGTACCTGACTACCCTGGGGCAGCGCCTGGCTCACATCTCCACCGACCCCCGGTTGGCCAAGGCCATTGTGTTGGCTGCCATCTTCCGTTGCCTGCACCCACTACTGGTGGTCGTTTCCTGCCTCACCCGGGACCCCTTCAGCAGCAGCCTACAGAACCGGGC
CAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCCAGTGGCTTGTTTGATCAAGTTGCATTATAATCGACATTTACAGGAAATTCCACGTGCATCTGTATATGATGGGGTCACAGATGGGTCGGGTGCCATGTAGGGATTGGGAGGCGGGATGGAAGGATTAGGGGAGGAAGGCTTTGATGAGGCAGCAAAGGAAGAGGGAGTCTGTGGGGTGCGTTCTAGCATCGAGGGCCTGGCCTGGCTGGTCTGAGGGTACATGTTGGGAATTCACAGAGGTGACAGTGGCCTATTGTGGTGTTGGGGGGGCTGTAGCCACACAGTGAGTGGTTTCTCCTCAGGGCCTTCTCCAGACGTAGGGCTGTTCTGCTGTGACACATCAGGTTTAGCTTTTCTTGAATTAACTTTATTATTATTTTCTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCACCGTCATGATCTCGGCTCACTGCAACCTGTGTCTCCAGGGTTCAGGCGATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGACTATAGGTGCCGGCCCCCCACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACCCCTGACCTCAGGTGATTTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAATTAACTTTAGTTCATTTTTTAAAACGTTTATTTTGGTAAGTTAACATTTTCCTAGTTCATAATTTCTCCCTCCATCACCATGTCAGCCAAAATCCAAAATCTCTTAGAGATTACTTGGCACAACTTATGCGTTGGAGCTCCTGAGCTTGTCTGGGCTGGTTTTTGGGGAGCCCCAGAGCATAGACTGAGTCTTGCATGTCCCCCTGCAGAGCCTGGGCCTGGTGGACAGGAACAACGAACCGCTTACACACGCCATGTATAACCTGGCCTCTTTGCGTGAGCTGGGTGAGACCCAGCGCCGACCATGCACCATCCAGGTGCCCGAGCCCATCCTCCGCAAGATAGAGACCTTCCTGAACCATGTAAGAGGCCCTGCATCCCTCACCACCCCTGCTCCCTGTAGTCTGCCTCCATCTCTCCAGACTGAAGGCCTCCACCTGCGACAGGCAGTAGTACCTCCCCATTCTCTTCACTGAGTTTGGGGCCTGGGATCCCCCTGGCCTGAACAGCCCAGTCTTGCCCACAAGGATCCCGGGGCAGTCATGGACTAAATTAATCCTCTGCCCAGCGGGTTGGGCCACAACATCTGACCCAGGCGAATCCTGCAGAGTGGCTGGTTGTGTGTGAATGAGGAATTTCTTTTTCATTGTTTTGCTTGCCTCCCTGCCCTCCAGTACCCTGTGGAGAGTTCATGGATCGCCCCAGAACTCCGGCTGCAGAGTGATGACATCTTGCCCTTGGGCAAGGACTCAGGGCCTCTGAGTGACCCTATCACAGGCAAGCCCTATGTGCCCCTGTTGGAAGCAGAGGAGGTACGTCTCAGCCAGAGTCTGCTAGAACTGTGGCGGCGGCGAGGGCCGGTCTGGCAGGAGGCCCCCCAGCTACCTGTGGACCCACATCGGGACACCATCCTCAACGCCATTGAGCAGCACCCGGTGGTGGTCATCTCTGGGGACACGGGCTGTGGGAAGACCACGCGCATCCCCCAGCTGTTGCTGGAGCGCTATGTGACCGAGGGCCGAGGTGCCCGCTGCAATGTTATCATCACCCAACCTCGCCGCATCTCTGCTGTGTCTGTGGCACAGCGGGTCAGCCACGAACTGGGCCCCTCCCTGCGCCGGAATGTGGGCTTCCAGGTGCGGTTGGAAAGTAAGCCCCCATCCCGAGGCGGGGCCCTGCTCTTCTGCACTGTGGGTATCCTGCTGCGTAAGCTGCAGAGCAACCCCAGCCTGGAGGGCGTGAGCCACGTCATCGTGGATGAGGTGCGTGAGCGGGACGTGAACACAGACTTTCTGCTGATCCTGCTCAAGGGCCTGCAGCGGCTCAACCCGGCCCTGCGGCTGGTGCTCATGAGTGCCACAGGGGACAATGAGCGCTTCTCCCGATACTTTGGTGGCTGCCCCGTCATCAAGGTGCCTGGCTTCATGTACCCAGTCAAGGAGCACTACCTAGAGGACATCCTGGCCAAGTTGGGCAAGCACCAGTACCTGCACCGGCACCGGCACCATGAGGTGAGGGACACCCCCATCCCACCCAAGGCTCCTGGCCTTTCCTCCGTGGATGCCCCTCCTCCCTGGCCCTGGGGCTTGGTGCCTGGGGCAAGTTACCCTCCCCAGTCCTCGGTTTCCTTGATAGAAACTGGGGACTAACCCTGCCTGCGTGGCACACGTGAGGATTGGAGTTGATGTCAAGCGGCTCCGTCTCACTGAGTCAGGTGGCTGTGTCCTTGGCATGACCCCTTACCCCGGGGCTGTGACTGTGGCCTCTCTTCCCCCACCCCAGTCTGAGGATGAATGCGCACTCGATTTGGACCTTGTGACTGATCTGGTTCTGCACATCGATGCTCGCGGGGAACCAGGTGGGTGCCTCCCCATCTGTCCCATGCTAGCCCTGGCCACGTTTGCAGCAACAGCTGGCTCATGCCCCAGGGCTCCTTTACAGGTGGGATCCTGTGCTTCCTGCCTGGGTGGCAGGAGATCAAAGGAGTGCAGCAGCGCCTCCAGGAGGCCCTGGGCATGCACGAGAGCAAGTACCTCATCCTGCCAGGTGAGAGCCCCGGCGGAGGGACCAGGGACCTTTGGAAACCAGCCTGACCTCTGTCCTAGGGACTGACCCAACTGGGACTCCAGGGGCCCCGGTTTCTGACCAAGCTGTGGCACTTTTCACTGGGCATAGTGTTTATCTGCGCCTGTTTCATCAAAATGGGGTCAAAATCCTTGCCCTGCCCACATTCCAGGGGGGAATTCTGGTGGAAGCAGTGCCCATAACTGGTGTGTGTCTTGCCCACCAGTGCACTCCAACATCCCCATGATGGATCAGAAGGCCATATTCCAGCAGCCTCCAGTTGGGGTGCGCAAGATTGTCTTGGCCACCAACATTGCTGAGACTTCCATCACAATCAATGACATCGTGCATGTGGTGGACAGTGGGCTGCACAAGGAAGAACGCTATGACCTGAAGACCAAGGTGGCACCTACCTCCTGGGCCCGGCCAACCACTGGGGGAGGGACTCCGTTTTGAGGTGGTCCCCAGCCCAGATCTACCTTAGACCTGCTTTGTGTGTCTTCAGAAGGCCGCGCTTGTGGGGTCTCAGTGTTCCTGATGTAGGGGGCTGGTGAGGGTTACTCAGGGAGTGGGGAAGCACTGAGGAAGTGGCATTTGTGTGCTGCTTACTTGCCACCTCCTCCAGGTGTCCTGCCTGGAGACAGTGTGGGTATCAAGAGCCAATGTGATCCAGCGCCGGGGCCGGGCGGGCCGCTGCCAGTCCGGCTTTGCCTACCACTTGTTCCCTCGAAGCCGGCTGGAGAAAATGGTCCCTTTCCAAGTGCCAGAGATCCTGCGCACACCTCTTGAGAACCTGGTGCTGCAAGCGAAAATCCACATGCCTGAGAAGACGGTGCGGCGGGGCGGGGCAGGGGCTGGCCTGGGGACCAGGCAGGTGGGAGGCAGGCTCATGGCGGGCTCTGGCTCTGTCATAGGCGGTGGAGTTCCTGTCCAAGGCTGTGGACAGTCCAAACATCAAGGCAGTGGACGAGGCTGTGATCTTGCTCCAGGAGATCGGTATGTAGGGGCTGGGCTGGGCTGGGCTGGGGAGTGGCTCTCGAGGGTGGTACTGACAGCTGAGCCGTTGCAGGGGTGCTGGACCAGCGGGAGTACCTGACTACCCTGGGGCAGCGCCTGGCTCACATCTCCACCGACCCCCGGTTGGCCAAGGCCATTGTGTTGGCTGCCATCTTCCGTTGCCTGCACCCACTACTGGTGGTCGTTTCCTGCCTCACCCGGGACCCCTTCAGCAGCAGCCTACAGAACCGGGC
Task1_train_6736
This variant impacts the gene DHX30 (DExH-box helicase 30) on Chromosome 3. Is the change likely to result in a pathogenic outcome?
Pathogenic; Hearing impairment
CAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCCAGTGGCTTGTTTGATCAAGTTGCATTATAATCGACATTTACAGGAAATTCCACGTGCATCTGTATATGATGGGGTCACAGATGGGTCGGGTGCCATGTAGGGATTGGGAGGCGGGATGGAAGGATTAGGGGAGGAAGGCTTTGATGAGGCAGCAAAGGAAGAGGGAGTCTGTGGGGTGCGTTCTAGCATCGAGGGCCTGGCCTGGCTGGTCTGAGGGTACATGTTGGGAATTCACAGAGGTGACAGTGGCCTATTGTGGTGTTGGGGGGGCTGTAGCCACACAGTGAGTGGTTTCTCCTCAGGGCCTTCTCCAGACGTAGGGCTGTTCTGCTGTGACACATCAGGTTTAGCTTTTCTTGAATTAACTTTATTATTATTTTCTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCACCGTCATGATCTCGGCTCACTGCAACCTGTGTCTCCAGGGTTCAGGCGATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGACTATAGGTGCCGGCCCCCCACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACCCCTGACCTCAGGTGATTTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAATTAACTTTAGTTCATTTTTTAAAACGTTTATTTTGGTAAGTTAACATTTTCCTAGTTCATAATTTCTCCCTCCATCACCATGTCAGCCAAAATCCAAAATCTCTTAGAGATTACTTGGCACAACTTATGCGTTGGAGCTCCTGAGCTTGTCTGGGCTGGTTTTTGGGGAGCCCCAGAGCATAGACTGAGTCTTGCATGTCCCCCTGCAGAGCCTGGGCCTGGTGGACAGGAACAACGAACCGCTTACACACGCCATGTATAACCTGGCCTCTTTGCGTGAGCTGGGTGAGACCCAGCGCCGACCATGCACCATCCAGGTGCCCGAGCCCATCCTCCGCAAGATAGAGACCTTCCTGAACCATGTAAGAGGCCCTGCATCCCTCACCACCCCTGCTCCCTGTAGTCTGCCTCCATCTCTCCAGACTGAAGGCCTCCACCTGCGACAGGCAGTAGTACCTCCCCATTCTCTTCACTGAGTTTGGGGCCTGGGATCCCCCTGGCCTGAACAGCCCAGTCTTGCCCACAAGGATCCCGGGGCAGTCATGGACTAAATTAATCCTCTGCCCAGCGGGTTGGGCCACAACATCTGACCCAGGCGAATCCTGCAGAGTGGCTGGTTGTGTGTGAATGAGGAATTTCTTTTTCATTGTTTTGCTTGCCTCCCTGCCCTCCAGTACCCTGTGGAGAGTTCATGGATCGCCCCAGAACTCCGGCTGCAGAGTGATGACATCTTGCCCTTGGGCAAGGACTCAGGGCCTCTGAGTGACCCTATCACAGGCAAGCCCTATGTGCCCCTGTTGGAAGCAGAGGAGGTACGTCTCAGCCAGAGTCTGCTAGAACTGTGGCGGCGGCGAGGGCCGGTCTGGCAGGAGGCCCCCCAGCTACCTGTGGACCCACATCGGGACACCATCCTCAACGCCATTGAGCAGCACCCGGTGGTGGTCATCTCTGGGGACACGGGCTGTGGGAAGACCACGCGCATCCCCCAGCTGTTGCTGGAGCGCTATGTGACCGAGGGCCGAGGTGCCCGCTGCAATGTTATCATCACCCAACCTCGCCGCATCTCTGCTGTGTCTGTGGCACAGCGGGTCAGCCACGAACTGGGCCCCTCCCTGCGCCGGAATGTGGGCTTCCAGGTGCGGTTGGAAAGTAAGCCCCCATCCCGAGGCGGGGCCCTGCTCTTCTGCACTGTGGGTATCCTGCTGCGTAAGCTGCAGAGCAACCCCAGCCTGGAGGGCGTGAGCCACGTCATCGTGGATGAGGTGCATGAGCGGGACGTGAACACAGACTTTCTGCTGATCCTGCTCAAGGGCCTGCAGCGGCTCAACCCGGCCCTGCGGCTGGTGCTCATGAGTGCCACAGGGGACAATGAGCGCTTCTCCCGATACTTTGGTGGCTGCCCCGTCATCAAGGTGCCTGGCTTCATGTACCCAGTCAAGGAGCACTACCTAGAGGACATCCTGGCCAAGTTGGGCAAGCACCAGTACCTGCACCGGCACCGGCACCATGAGGTGAGGGACACCCCCATCCCACCCAAGGCTCCTGGCCTTTCCTCCGTGGATGCCCCTCCTCCCTGGCCCTGGGGCTTGGTGCCTGGGGCAAGTTACCCTCCCCAGTCCTCGGTTTCCTTGATAGAAACTGGGGACTAACCCTGCCTGCGTGGCACACGTGAGGATTGGAGTTGATGTCAAGCGGCTCCGTCTCACTGAGTCAGGTGGCTGTGTCCTTGGCATGACCCCTTACCCCGGGGCTGTGACTGTGGCCTCTCTTCCCCCACCCCAGTCTGAGGATGAATGCGCACTCGATTTGGACCTTGTGACTGATCTGGTTCTGCACATCGATGCTCGCGGGGAACCAGGTGGGTGCCTCCCCATCTGTCCCATGCTAGCCCTGGCCACGTTTGCAGCAACAGCTGGCTCATGCCCCAGGGCTCCTTTACAGGTGGGATCCTGTGCTTCCTGCCTGGGTGGCAGGAGATCAAAGGAGTGCAGCAGCGCCTCCAGGAGGCCCTGGGCATGCACGAGAGCAAGTACCTCATCCTGCCAGGTGAGAGCCCCGGCGGAGGGACCAGGGACCTTTGGAAACCAGCCTGACCTCTGTCCTAGGGACTGACCCAACTGGGACTCCAGGGGCCCCGGTTTCTGACCAAGCTGTGGCACTTTTCACTGGGCATAGTGTTTATCTGCGCCTGTTTCATCAAAATGGGGTCAAAATCCTTGCCCTGCCCACATTCCAGGGGGGAATTCTGGTGGAAGCAGTGCCCATAACTGGTGTGTGTCTTGCCCACCAGTGCACTCCAACATCCCCATGATGGATCAGAAGGCCATATTCCAGCAGCCTCCAGTTGGGGTGCGCAAGATTGTCTTGGCCACCAACATTGCTGAGACTTCCATCACAATCAATGACATCGTGCATGTGGTGGACAGTGGGCTGCACAAGGAAGAACGCTATGACCTGAAGACCAAGGTGGCACCTACCTCCTGGGCCCGGCCAACCACTGGGGGAGGGACTCCGTTTTGAGGTGGTCCCCAGCCCAGATCTACCTTAGACCTGCTTTGTGTGTCTTCAGAAGGCCGCGCTTGTGGGGTCTCAGTGTTCCTGATGTAGGGGGCTGGTGAGGGTTACTCAGGGAGTGGGGAAGCACTGAGGAAGTGGCATTTGTGTGCTGCTTACTTGCCACCTCCTCCAGGTGTCCTGCCTGGAGACAGTGTGGGTATCAAGAGCCAATGTGATCCAGCGCCGGGGCCGGGCGGGCCGCTGCCAGTCCGGCTTTGCCTACCACTTGTTCCCTCGAAGCCGGCTGGAGAAAATGGTCCCTTTCCAAGTGCCAGAGATCCTGCGCACACCTCTTGAGAACCTGGTGCTGCAAGCGAAAATCCACATGCCTGAGAAGACGGTGCGGCGGGGCGGGGCAGGGGCTGGCCTGGGGACCAGGCAGGTGGGAGGCAGGCTCATGGCGGGCTCTGGCTCTGTCATAGGCGGTGGAGTTCCTGTCCAAGGCTGTGGACAGTCCAAACATCAAGGCAGTGGACGAGGCTGTGATCTTGCTCCAGGAGATCGGTATGTAGGGGCTGGGCTGGGCTGGGCTGGGGAGTGGCTCTCGAGGGTGGTACTGACAGCTGAGCCGTTGCAGGGGTGCTGGACCAGCGGGAGTACCTGACTACCCTGGGGCAGCGCCTGGCTCACATCTCCACCGACCCCCGGTTGGCCAAGGCCATTGTGTTGGCTGCCATCTTCCGTTGCCTGCACCCACTACTGGTGGTCGTTTCCTGCCTCACCCGGGACCCCTTCAGCAGCAGCCTACAGAACCGGGC
CAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCCAGTGGCTTGTTTGATCAAGTTGCATTATAATCGACATTTACAGGAAATTCCACGTGCATCTGTATATGATGGGGTCACAGATGGGTCGGGTGCCATGTAGGGATTGGGAGGCGGGATGGAAGGATTAGGGGAGGAAGGCTTTGATGAGGCAGCAAAGGAAGAGGGAGTCTGTGGGGTGCGTTCTAGCATCGAGGGCCTGGCCTGGCTGGTCTGAGGGTACATGTTGGGAATTCACAGAGGTGACAGTGGCCTATTGTGGTGTTGGGGGGGCTGTAGCCACACAGTGAGTGGTTTCTCCTCAGGGCCTTCTCCAGACGTAGGGCTGTTCTGCTGTGACACATCAGGTTTAGCTTTTCTTGAATTAACTTTATTATTATTTTCTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCACCGTCATGATCTCGGCTCACTGCAACCTGTGTCTCCAGGGTTCAGGCGATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGACTATAGGTGCCGGCCCCCCACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACCCCTGACCTCAGGTGATTTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAATTAACTTTAGTTCATTTTTTAAAACGTTTATTTTGGTAAGTTAACATTTTCCTAGTTCATAATTTCTCCCTCCATCACCATGTCAGCCAAAATCCAAAATCTCTTAGAGATTACTTGGCACAACTTATGCGTTGGAGCTCCTGAGCTTGTCTGGGCTGGTTTTTGGGGAGCCCCAGAGCATAGACTGAGTCTTGCATGTCCCCCTGCAGAGCCTGGGCCTGGTGGACAGGAACAACGAACCGCTTACACACGCCATGTATAACCTGGCCTCTTTGCGTGAGCTGGGTGAGACCCAGCGCCGACCATGCACCATCCAGGTGCCCGAGCCCATCCTCCGCAAGATAGAGACCTTCCTGAACCATGTAAGAGGCCCTGCATCCCTCACCACCCCTGCTCCCTGTAGTCTGCCTCCATCTCTCCAGACTGAAGGCCTCCACCTGCGACAGGCAGTAGTACCTCCCCATTCTCTTCACTGAGTTTGGGGCCTGGGATCCCCCTGGCCTGAACAGCCCAGTCTTGCCCACAAGGATCCCGGGGCAGTCATGGACTAAATTAATCCTCTGCCCAGCGGGTTGGGCCACAACATCTGACCCAGGCGAATCCTGCAGAGTGGCTGGTTGTGTGTGAATGAGGAATTTCTTTTTCATTGTTTTGCTTGCCTCCCTGCCCTCCAGTACCCTGTGGAGAGTTCATGGATCGCCCCAGAACTCCGGCTGCAGAGTGATGACATCTTGCCCTTGGGCAAGGACTCAGGGCCTCTGAGTGACCCTATCACAGGCAAGCCCTATGTGCCCCTGTTGGAAGCAGAGGAGGTACGTCTCAGCCAGAGTCTGCTAGAACTGTGGCGGCGGCGAGGGCCGGTCTGGCAGGAGGCCCCCCAGCTACCTGTGGACCCACATCGGGACACCATCCTCAACGCCATTGAGCAGCACCCGGTGGTGGTCATCTCTGGGGACACGGGCTGTGGGAAGACCACGCGCATCCCCCAGCTGTTGCTGGAGCGCTATGTGACCGAGGGCCGAGGTGCCCGCTGCAATGTTATCATCACCCAACCTCGCCGCATCTCTGCTGTGTCTGTGGCACAGCGGGTCAGCCACGAACTGGGCCCCTCCCTGCGCCGGAATGTGGGCTTCCAGGTGCGGTTGGAAAGTAAGCCCCCATCCCGAGGCGGGGCCCTGCTCTTCTGCACTGTGGGTATCCTGCTGCGTAAGCTGCAGAGCAACCCCAGCCTGGAGGGCGTGAGCCACGTCATCGTGGATGAGGTGCGTGAGCGGGACGTGAACACAGACTTTCTGCTGATCCTGCTCAAGGGCCTGCAGCGGCTCAACCCGGCCCTGCGGCTGGTGCTCATGAGTGCCACAGGGGACAATGAGCGCTTCTCCCGATACTTTGGTGGCTGCCCCGTCATCAAGGTGCCTGGCTTCATGTACCCAGTCAAGGAGCACTACCTAGAGGACATCCTGGCCAAGTTGGGCAAGCACCAGTACCTGCACCGGCACCGGCACCATGAGGTGAGGGACACCCCCATCCCACCCAAGGCTCCTGGCCTTTCCTCCGTGGATGCCCCTCCTCCCTGGCCCTGGGGCTTGGTGCCTGGGGCAAGTTACCCTCCCCAGTCCTCGGTTTCCTTGATAGAAACTGGGGACTAACCCTGCCTGCGTGGCACACGTGAGGATTGGAGTTGATGTCAAGCGGCTCCGTCTCACTGAGTCAGGTGGCTGTGTCCTTGGCATGACCCCTTACCCCGGGGCTGTGACTGTGGCCTCTCTTCCCCCACCCCAGTCTGAGGATGAATGCGCACTCGATTTGGACCTTGTGACTGATCTGGTTCTGCACATCGATGCTCGCGGGGAACCAGGTGGGTGCCTCCCCATCTGTCCCATGCTAGCCCTGGCCACGTTTGCAGCAACAGCTGGCTCATGCCCCAGGGCTCCTTTACAGGTGGGATCCTGTGCTTCCTGCCTGGGTGGCAGGAGATCAAAGGAGTGCAGCAGCGCCTCCAGGAGGCCCTGGGCATGCACGAGAGCAAGTACCTCATCCTGCCAGGTGAGAGCCCCGGCGGAGGGACCAGGGACCTTTGGAAACCAGCCTGACCTCTGTCCTAGGGACTGACCCAACTGGGACTCCAGGGGCCCCGGTTTCTGACCAAGCTGTGGCACTTTTCACTGGGCATAGTGTTTATCTGCGCCTGTTTCATCAAAATGGGGTCAAAATCCTTGCCCTGCCCACATTCCAGGGGGGAATTCTGGTGGAAGCAGTGCCCATAACTGGTGTGTGTCTTGCCCACCAGTGCACTCCAACATCCCCATGATGGATCAGAAGGCCATATTCCAGCAGCCTCCAGTTGGGGTGCGCAAGATTGTCTTGGCCACCAACATTGCTGAGACTTCCATCACAATCAATGACATCGTGCATGTGGTGGACAGTGGGCTGCACAAGGAAGAACGCTATGACCTGAAGACCAAGGTGGCACCTACCTCCTGGGCCCGGCCAACCACTGGGGGAGGGACTCCGTTTTGAGGTGGTCCCCAGCCCAGATCTACCTTAGACCTGCTTTGTGTGTCTTCAGAAGGCCGCGCTTGTGGGGTCTCAGTGTTCCTGATGTAGGGGGCTGGTGAGGGTTACTCAGGGAGTGGGGAAGCACTGAGGAAGTGGCATTTGTGTGCTGCTTACTTGCCACCTCCTCCAGGTGTCCTGCCTGGAGACAGTGTGGGTATCAAGAGCCAATGTGATCCAGCGCCGGGGCCGGGCGGGCCGCTGCCAGTCCGGCTTTGCCTACCACTTGTTCCCTCGAAGCCGGCTGGAGAAAATGGTCCCTTTCCAAGTGCCAGAGATCCTGCGCACACCTCTTGAGAACCTGGTGCTGCAAGCGAAAATCCACATGCCTGAGAAGACGGTGCGGCGGGGCGGGGCAGGGGCTGGCCTGGGGACCAGGCAGGTGGGAGGCAGGCTCATGGCGGGCTCTGGCTCTGTCATAGGCGGTGGAGTTCCTGTCCAAGGCTGTGGACAGTCCAAACATCAAGGCAGTGGACGAGGCTGTGATCTTGCTCCAGGAGATCGGTATGTAGGGGCTGGGCTGGGCTGGGCTGGGGAGTGGCTCTCGAGGGTGGTACTGACAGCTGAGCCGTTGCAGGGGTGCTGGACCAGCGGGAGTACCTGACTACCCTGGGGCAGCGCCTGGCTCACATCTCCACCGACCCCCGGTTGGCCAAGGCCATTGTGTTGGCTGCCATCTTCCGTTGCCTGCACCCACTACTGGTGGTCGTTTCCTGCCTCACCCGGGACCCCTTCAGCAGCAGCCTACAGAACCGGGC
Task1_train_6737
Consider a variant on Chromosome 3 in gene DHX30 (DExH-box helicase 30). Determine its clinical classification and disease relevance.
Pathogenic; Axial hypotonia
CAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCCAGTGGCTTGTTTGATCAAGTTGCATTATAATCGACATTTACAGGAAATTCCACGTGCATCTGTATATGATGGGGTCACAGATGGGTCGGGTGCCATGTAGGGATTGGGAGGCGGGATGGAAGGATTAGGGGAGGAAGGCTTTGATGAGGCAGCAAAGGAAGAGGGAGTCTGTGGGGTGCGTTCTAGCATCGAGGGCCTGGCCTGGCTGGTCTGAGGGTACATGTTGGGAATTCACAGAGGTGACAGTGGCCTATTGTGGTGTTGGGGGGGCTGTAGCCACACAGTGAGTGGTTTCTCCTCAGGGCCTTCTCCAGACGTAGGGCTGTTCTGCTGTGACACATCAGGTTTAGCTTTTCTTGAATTAACTTTATTATTATTTTCTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCACCGTCATGATCTCGGCTCACTGCAACCTGTGTCTCCAGGGTTCAGGCGATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGACTATAGGTGCCGGCCCCCCACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACCCCTGACCTCAGGTGATTTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAATTAACTTTAGTTCATTTTTTAAAACGTTTATTTTGGTAAGTTAACATTTTCCTAGTTCATAATTTCTCCCTCCATCACCATGTCAGCCAAAATCCAAAATCTCTTAGAGATTACTTGGCACAACTTATGCGTTGGAGCTCCTGAGCTTGTCTGGGCTGGTTTTTGGGGAGCCCCAGAGCATAGACTGAGTCTTGCATGTCCCCCTGCAGAGCCTGGGCCTGGTGGACAGGAACAACGAACCGCTTACACACGCCATGTATAACCTGGCCTCTTTGCGTGAGCTGGGTGAGACCCAGCGCCGACCATGCACCATCCAGGTGCCCGAGCCCATCCTCCGCAAGATAGAGACCTTCCTGAACCATGTAAGAGGCCCTGCATCCCTCACCACCCCTGCTCCCTGTAGTCTGCCTCCATCTCTCCAGACTGAAGGCCTCCACCTGCGACAGGCAGTAGTACCTCCCCATTCTCTTCACTGAGTTTGGGGCCTGGGATCCCCCTGGCCTGAACAGCCCAGTCTTGCCCACAAGGATCCCGGGGCAGTCATGGACTAAATTAATCCTCTGCCCAGCGGGTTGGGCCACAACATCTGACCCAGGCGAATCCTGCAGAGTGGCTGGTTGTGTGTGAATGAGGAATTTCTTTTTCATTGTTTTGCTTGCCTCCCTGCCCTCCAGTACCCTGTGGAGAGTTCATGGATCGCCCCAGAACTCCGGCTGCAGAGTGATGACATCTTGCCCTTGGGCAAGGACTCAGGGCCTCTGAGTGACCCTATCACAGGCAAGCCCTATGTGCCCCTGTTGGAAGCAGAGGAGGTACGTCTCAGCCAGAGTCTGCTAGAACTGTGGCGGCGGCGAGGGCCGGTCTGGCAGGAGGCCCCCCAGCTACCTGTGGACCCACATCGGGACACCATCCTCAACGCCATTGAGCAGCACCCGGTGGTGGTCATCTCTGGGGACACGGGCTGTGGGAAGACCACGCGCATCCCCCAGCTGTTGCTGGAGCGCTATGTGACCGAGGGCCGAGGTGCCCGCTGCAATGTTATCATCACCCAACCTCGCCGCATCTCTGCTGTGTCTGTGGCACAGCGGGTCAGCCACGAACTGGGCCCCTCCCTGCGCCGGAATGTGGGCTTCCAGGTGCGGTTGGAAAGTAAGCCCCCATCCCGAGGCGGGGCCCTGCTCTTCTGCACTGTGGGTATCCTGCTGCGTAAGCTGCAGAGCAACCCCAGCCTGGAGGGCGTGAGCCACGTCATCGTGGATGAGGTGCATGAGCGGGACGTGAACACAGACTTTCTGCTGATCCTGCTCAAGGGCCTGCAGCGGCTCAACCCGGCCCTGCGGCTGGTGCTCATGAGTGCCACAGGGGACAATGAGCGCTTCTCCCGATACTTTGGTGGCTGCCCCGTCATCAAGGTGCCTGGCTTCATGTACCCAGTCAAGGAGCACTACCTAGAGGACATCCTGGCCAAGTTGGGCAAGCACCAGTACCTGCACCGGCACCGGCACCATGAGGTGAGGGACACCCCCATCCCACCCAAGGCTCCTGGCCTTTCCTCCGTGGATGCCCCTCCTCCCTGGCCCTGGGGCTTGGTGCCTGGGGCAAGTTACCCTCCCCAGTCCTCGGTTTCCTTGATAGAAACTGGGGACTAACCCTGCCTGCGTGGCACACGTGAGGATTGGAGTTGATGTCAAGCGGCTCCGTCTCACTGAGTCAGGTGGCTGTGTCCTTGGCATGACCCCTTACCCCGGGGCTGTGACTGTGGCCTCTCTTCCCCCACCCCAGTCTGAGGATGAATGCGCACTCGATTTGGACCTTGTGACTGATCTGGTTCTGCACATCGATGCTCGCGGGGAACCAGGTGGGTGCCTCCCCATCTGTCCCATGCTAGCCCTGGCCACGTTTGCAGCAACAGCTGGCTCATGCCCCAGGGCTCCTTTACAGGTGGGATCCTGTGCTTCCTGCCTGGGTGGCAGGAGATCAAAGGAGTGCAGCAGCGCCTCCAGGAGGCCCTGGGCATGCACGAGAGCAAGTACCTCATCCTGCCAGGTGAGAGCCCCGGCGGAGGGACCAGGGACCTTTGGAAACCAGCCTGACCTCTGTCCTAGGGACTGACCCAACTGGGACTCCAGGGGCCCCGGTTTCTGACCAAGCTGTGGCACTTTTCACTGGGCATAGTGTTTATCTGCGCCTGTTTCATCAAAATGGGGTCAAAATCCTTGCCCTGCCCACATTCCAGGGGGGAATTCTGGTGGAAGCAGTGCCCATAACTGGTGTGTGTCTTGCCCACCAGTGCACTCCAACATCCCCATGATGGATCAGAAGGCCATATTCCAGCAGCCTCCAGTTGGGGTGCGCAAGATTGTCTTGGCCACCAACATTGCTGAGACTTCCATCACAATCAATGACATCGTGCATGTGGTGGACAGTGGGCTGCACAAGGAAGAACGCTATGACCTGAAGACCAAGGTGGCACCTACCTCCTGGGCCCGGCCAACCACTGGGGGAGGGACTCCGTTTTGAGGTGGTCCCCAGCCCAGATCTACCTTAGACCTGCTTTGTGTGTCTTCAGAAGGCCGCGCTTGTGGGGTCTCAGTGTTCCTGATGTAGGGGGCTGGTGAGGGTTACTCAGGGAGTGGGGAAGCACTGAGGAAGTGGCATTTGTGTGCTGCTTACTTGCCACCTCCTCCAGGTGTCCTGCCTGGAGACAGTGTGGGTATCAAGAGCCAATGTGATCCAGCGCCGGGGCCGGGCGGGCCGCTGCCAGTCCGGCTTTGCCTACCACTTGTTCCCTCGAAGCCGGCTGGAGAAAATGGTCCCTTTCCAAGTGCCAGAGATCCTGCGCACACCTCTTGAGAACCTGGTGCTGCAAGCGAAAATCCACATGCCTGAGAAGACGGTGCGGCGGGGCGGGGCAGGGGCTGGCCTGGGGACCAGGCAGGTGGGAGGCAGGCTCATGGCGGGCTCTGGCTCTGTCATAGGCGGTGGAGTTCCTGTCCAAGGCTGTGGACAGTCCAAACATCAAGGCAGTGGACGAGGCTGTGATCTTGCTCCAGGAGATCGGTATGTAGGGGCTGGGCTGGGCTGGGCTGGGGAGTGGCTCTCGAGGGTGGTACTGACAGCTGAGCCGTTGCAGGGGTGCTGGACCAGCGGGAGTACCTGACTACCCTGGGGCAGCGCCTGGCTCACATCTCCACCGACCCCCGGTTGGCCAAGGCCATTGTGTTGGCTGCCATCTTCCGTTGCCTGCACCCACTACTGGTGGTCGTTTCCTGCCTCACCCGGGACCCCTTCAGCAGCAGCCTACAGAACCGGGC
CAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCCAGTGGCTTGTTTGATCAAGTTGCATTATAATCGACATTTACAGGAAATTCCACGTGCATCTGTATATGATGGGGTCACAGATGGGTCGGGTGCCATGTAGGGATTGGGAGGCGGGATGGAAGGATTAGGGGAGGAAGGCTTTGATGAGGCAGCAAAGGAAGAGGGAGTCTGTGGGGTGCGTTCTAGCATCGAGGGCCTGGCCTGGCTGGTCTGAGGGTACATGTTGGGAATTCACAGAGGTGACAGTGGCCTATTGTGGTGTTGGGGGGGCTGTAGCCACACAGTGAGTGGTTTCTCCTCAGGGCCTTCTCCAGACGTAGGGCTGTTCTGCTGTGACACATCAGGTTTAGCTTTTCTTGAATTAACTTTATTATTATTTTCTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCACCGTCATGATCTCGGCTCACTGCAACCTGTGTCTCCAGGGTTCAGGCGATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGACTATAGGTGCCGGCCCCCCACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACCCCTGACCTCAGGTGATTTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAATTAACTTTAGTTCATTTTTTAAAACGTTTATTTTGGTAAGTTAACATTTTCCTAGTTCATAATTTCTCCCTCCATCACCATGTCAGCCAAAATCCAAAATCTCTTAGAGATTACTTGGCACAACTTATGCGTTGGAGCTCCTGAGCTTGTCTGGGCTGGTTTTTGGGGAGCCCCAGAGCATAGACTGAGTCTTGCATGTCCCCCTGCAGAGCCTGGGCCTGGTGGACAGGAACAACGAACCGCTTACACACGCCATGTATAACCTGGCCTCTTTGCGTGAGCTGGGTGAGACCCAGCGCCGACCATGCACCATCCAGGTGCCCGAGCCCATCCTCCGCAAGATAGAGACCTTCCTGAACCATGTAAGAGGCCCTGCATCCCTCACCACCCCTGCTCCCTGTAGTCTGCCTCCATCTCTCCAGACTGAAGGCCTCCACCTGCGACAGGCAGTAGTACCTCCCCATTCTCTTCACTGAGTTTGGGGCCTGGGATCCCCCTGGCCTGAACAGCCCAGTCTTGCCCACAAGGATCCCGGGGCAGTCATGGACTAAATTAATCCTCTGCCCAGCGGGTTGGGCCACAACATCTGACCCAGGCGAATCCTGCAGAGTGGCTGGTTGTGTGTGAATGAGGAATTTCTTTTTCATTGTTTTGCTTGCCTCCCTGCCCTCCAGTACCCTGTGGAGAGTTCATGGATCGCCCCAGAACTCCGGCTGCAGAGTGATGACATCTTGCCCTTGGGCAAGGACTCAGGGCCTCTGAGTGACCCTATCACAGGCAAGCCCTATGTGCCCCTGTTGGAAGCAGAGGAGGTACGTCTCAGCCAGAGTCTGCTAGAACTGTGGCGGCGGCGAGGGCCGGTCTGGCAGGAGGCCCCCCAGCTACCTGTGGACCCACATCGGGACACCATCCTCAACGCCATTGAGCAGCACCCGGTGGTGGTCATCTCTGGGGACACGGGCTGTGGGAAGACCACGCGCATCCCCCAGCTGTTGCTGGAGCGCTATGTGACCGAGGGCCGAGGTGCCCGCTGCAATGTTATCATCACCCAACCTCGCCGCATCTCTGCTGTGTCTGTGGCACAGCGGGTCAGCCACGAACTGGGCCCCTCCCTGCGCCGGAATGTGGGCTTCCAGGTGCGGTTGGAAAGTAAGCCCCCATCCCGAGGCGGGGCCCTGCTCTTCTGCACTGTGGGTATCCTGCTGCGTAAGCTGCAGAGCAACCCCAGCCTGGAGGGCGTGAGCCACGTCATCGTGGATGAGGTGCGTGAGCGGGACGTGAACACAGACTTTCTGCTGATCCTGCTCAAGGGCCTGCAGCGGCTCAACCCGGCCCTGCGGCTGGTGCTCATGAGTGCCACAGGGGACAATGAGCGCTTCTCCCGATACTTTGGTGGCTGCCCCGTCATCAAGGTGCCTGGCTTCATGTACCCAGTCAAGGAGCACTACCTAGAGGACATCCTGGCCAAGTTGGGCAAGCACCAGTACCTGCACCGGCACCGGCACCATGAGGTGAGGGACACCCCCATCCCACCCAAGGCTCCTGGCCTTTCCTCCGTGGATGCCCCTCCTCCCTGGCCCTGGGGCTTGGTGCCTGGGGCAAGTTACCCTCCCCAGTCCTCGGTTTCCTTGATAGAAACTGGGGACTAACCCTGCCTGCGTGGCACACGTGAGGATTGGAGTTGATGTCAAGCGGCTCCGTCTCACTGAGTCAGGTGGCTGTGTCCTTGGCATGACCCCTTACCCCGGGGCTGTGACTGTGGCCTCTCTTCCCCCACCCCAGTCTGAGGATGAATGCGCACTCGATTTGGACCTTGTGACTGATCTGGTTCTGCACATCGATGCTCGCGGGGAACCAGGTGGGTGCCTCCCCATCTGTCCCATGCTAGCCCTGGCCACGTTTGCAGCAACAGCTGGCTCATGCCCCAGGGCTCCTTTACAGGTGGGATCCTGTGCTTCCTGCCTGGGTGGCAGGAGATCAAAGGAGTGCAGCAGCGCCTCCAGGAGGCCCTGGGCATGCACGAGAGCAAGTACCTCATCCTGCCAGGTGAGAGCCCCGGCGGAGGGACCAGGGACCTTTGGAAACCAGCCTGACCTCTGTCCTAGGGACTGACCCAACTGGGACTCCAGGGGCCCCGGTTTCTGACCAAGCTGTGGCACTTTTCACTGGGCATAGTGTTTATCTGCGCCTGTTTCATCAAAATGGGGTCAAAATCCTTGCCCTGCCCACATTCCAGGGGGGAATTCTGGTGGAAGCAGTGCCCATAACTGGTGTGTGTCTTGCCCACCAGTGCACTCCAACATCCCCATGATGGATCAGAAGGCCATATTCCAGCAGCCTCCAGTTGGGGTGCGCAAGATTGTCTTGGCCACCAACATTGCTGAGACTTCCATCACAATCAATGACATCGTGCATGTGGTGGACAGTGGGCTGCACAAGGAAGAACGCTATGACCTGAAGACCAAGGTGGCACCTACCTCCTGGGCCCGGCCAACCACTGGGGGAGGGACTCCGTTTTGAGGTGGTCCCCAGCCCAGATCTACCTTAGACCTGCTTTGTGTGTCTTCAGAAGGCCGCGCTTGTGGGGTCTCAGTGTTCCTGATGTAGGGGGCTGGTGAGGGTTACTCAGGGAGTGGGGAAGCACTGAGGAAGTGGCATTTGTGTGCTGCTTACTTGCCACCTCCTCCAGGTGTCCTGCCTGGAGACAGTGTGGGTATCAAGAGCCAATGTGATCCAGCGCCGGGGCCGGGCGGGCCGCTGCCAGTCCGGCTTTGCCTACCACTTGTTCCCTCGAAGCCGGCTGGAGAAAATGGTCCCTTTCCAAGTGCCAGAGATCCTGCGCACACCTCTTGAGAACCTGGTGCTGCAAGCGAAAATCCACATGCCTGAGAAGACGGTGCGGCGGGGCGGGGCAGGGGCTGGCCTGGGGACCAGGCAGGTGGGAGGCAGGCTCATGGCGGGCTCTGGCTCTGTCATAGGCGGTGGAGTTCCTGTCCAAGGCTGTGGACAGTCCAAACATCAAGGCAGTGGACGAGGCTGTGATCTTGCTCCAGGAGATCGGTATGTAGGGGCTGGGCTGGGCTGGGCTGGGGAGTGGCTCTCGAGGGTGGTACTGACAGCTGAGCCGTTGCAGGGGTGCTGGACCAGCGGGAGTACCTGACTACCCTGGGGCAGCGCCTGGCTCACATCTCCACCGACCCCCGGTTGGCCAAGGCCATTGTGTTGGCTGCCATCTTCCGTTGCCTGCACCCACTACTGGTGGTCGTTTCCTGCCTCACCCGGGACCCCTTCAGCAGCAGCCTACAGAACCGGGC
Task1_train_6738
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?
Pathogenic; Sleep abnormality
CAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCCAGTGGCTTGTTTGATCAAGTTGCATTATAATCGACATTTACAGGAAATTCCACGTGCATCTGTATATGATGGGGTCACAGATGGGTCGGGTGCCATGTAGGGATTGGGAGGCGGGATGGAAGGATTAGGGGAGGAAGGCTTTGATGAGGCAGCAAAGGAAGAGGGAGTCTGTGGGGTGCGTTCTAGCATCGAGGGCCTGGCCTGGCTGGTCTGAGGGTACATGTTGGGAATTCACAGAGGTGACAGTGGCCTATTGTGGTGTTGGGGGGGCTGTAGCCACACAGTGAGTGGTTTCTCCTCAGGGCCTTCTCCAGACGTAGGGCTGTTCTGCTGTGACACATCAGGTTTAGCTTTTCTTGAATTAACTTTATTATTATTTTCTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCACCGTCATGATCTCGGCTCACTGCAACCTGTGTCTCCAGGGTTCAGGCGATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGACTATAGGTGCCGGCCCCCCACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACCCCTGACCTCAGGTGATTTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAATTAACTTTAGTTCATTTTTTAAAACGTTTATTTTGGTAAGTTAACATTTTCCTAGTTCATAATTTCTCCCTCCATCACCATGTCAGCCAAAATCCAAAATCTCTTAGAGATTACTTGGCACAACTTATGCGTTGGAGCTCCTGAGCTTGTCTGGGCTGGTTTTTGGGGAGCCCCAGAGCATAGACTGAGTCTTGCATGTCCCCCTGCAGAGCCTGGGCCTGGTGGACAGGAACAACGAACCGCTTACACACGCCATGTATAACCTGGCCTCTTTGCGTGAGCTGGGTGAGACCCAGCGCCGACCATGCACCATCCAGGTGCCCGAGCCCATCCTCCGCAAGATAGAGACCTTCCTGAACCATGTAAGAGGCCCTGCATCCCTCACCACCCCTGCTCCCTGTAGTCTGCCTCCATCTCTCCAGACTGAAGGCCTCCACCTGCGACAGGCAGTAGTACCTCCCCATTCTCTTCACTGAGTTTGGGGCCTGGGATCCCCCTGGCCTGAACAGCCCAGTCTTGCCCACAAGGATCCCGGGGCAGTCATGGACTAAATTAATCCTCTGCCCAGCGGGTTGGGCCACAACATCTGACCCAGGCGAATCCTGCAGAGTGGCTGGTTGTGTGTGAATGAGGAATTTCTTTTTCATTGTTTTGCTTGCCTCCCTGCCCTCCAGTACCCTGTGGAGAGTTCATGGATCGCCCCAGAACTCCGGCTGCAGAGTGATGACATCTTGCCCTTGGGCAAGGACTCAGGGCCTCTGAGTGACCCTATCACAGGCAAGCCCTATGTGCCCCTGTTGGAAGCAGAGGAGGTACGTCTCAGCCAGAGTCTGCTAGAACTGTGGCGGCGGCGAGGGCCGGTCTGGCAGGAGGCCCCCCAGCTACCTGTGGACCCACATCGGGACACCATCCTCAACGCCATTGAGCAGCACCCGGTGGTGGTCATCTCTGGGGACACGGGCTGTGGGAAGACCACGCGCATCCCCCAGCTGTTGCTGGAGCGCTATGTGACCGAGGGCCGAGGTGCCCGCTGCAATGTTATCATCACCCAACCTCGCCGCATCTCTGCTGTGTCTGTGGCACAGCGGGTCAGCCACGAACTGGGCCCCTCCCTGCGCCGGAATGTGGGCTTCCAGGTGCGGTTGGAAAGTAAGCCCCCATCCCGAGGCGGGGCCCTGCTCTTCTGCACTGTGGGTATCCTGCTGCGTAAGCTGCAGAGCAACCCCAGCCTGGAGGGCGTGAGCCACGTCATCGTGGATGAGGTGCATGAGCGGGACGTGAACACAGACTTTCTGCTGATCCTGCTCAAGGGCCTGCAGCGGCTCAACCCGGCCCTGCGGCTGGTGCTCATGAGTGCCACAGGGGACAATGAGCGCTTCTCCCGATACTTTGGTGGCTGCCCCGTCATCAAGGTGCCTGGCTTCATGTACCCAGTCAAGGAGCACTACCTAGAGGACATCCTGGCCAAGTTGGGCAAGCACCAGTACCTGCACCGGCACCGGCACCATGAGGTGAGGGACACCCCCATCCCACCCAAGGCTCCTGGCCTTTCCTCCGTGGATGCCCCTCCTCCCTGGCCCTGGGGCTTGGTGCCTGGGGCAAGTTACCCTCCCCAGTCCTCGGTTTCCTTGATAGAAACTGGGGACTAACCCTGCCTGCGTGGCACACGTGAGGATTGGAGTTGATGTCAAGCGGCTCCGTCTCACTGAGTCAGGTGGCTGTGTCCTTGGCATGACCCCTTACCCCGGGGCTGTGACTGTGGCCTCTCTTCCCCCACCCCAGTCTGAGGATGAATGCGCACTCGATTTGGACCTTGTGACTGATCTGGTTCTGCACATCGATGCTCGCGGGGAACCAGGTGGGTGCCTCCCCATCTGTCCCATGCTAGCCCTGGCCACGTTTGCAGCAACAGCTGGCTCATGCCCCAGGGCTCCTTTACAGGTGGGATCCTGTGCTTCCTGCCTGGGTGGCAGGAGATCAAAGGAGTGCAGCAGCGCCTCCAGGAGGCCCTGGGCATGCACGAGAGCAAGTACCTCATCCTGCCAGGTGAGAGCCCCGGCGGAGGGACCAGGGACCTTTGGAAACCAGCCTGACCTCTGTCCTAGGGACTGACCCAACTGGGACTCCAGGGGCCCCGGTTTCTGACCAAGCTGTGGCACTTTTCACTGGGCATAGTGTTTATCTGCGCCTGTTTCATCAAAATGGGGTCAAAATCCTTGCCCTGCCCACATTCCAGGGGGGAATTCTGGTGGAAGCAGTGCCCATAACTGGTGTGTGTCTTGCCCACCAGTGCACTCCAACATCCCCATGATGGATCAGAAGGCCATATTCCAGCAGCCTCCAGTTGGGGTGCGCAAGATTGTCTTGGCCACCAACATTGCTGAGACTTCCATCACAATCAATGACATCGTGCATGTGGTGGACAGTGGGCTGCACAAGGAAGAACGCTATGACCTGAAGACCAAGGTGGCACCTACCTCCTGGGCCCGGCCAACCACTGGGGGAGGGACTCCGTTTTGAGGTGGTCCCCAGCCCAGATCTACCTTAGACCTGCTTTGTGTGTCTTCAGAAGGCCGCGCTTGTGGGGTCTCAGTGTTCCTGATGTAGGGGGCTGGTGAGGGTTACTCAGGGAGTGGGGAAGCACTGAGGAAGTGGCATTTGTGTGCTGCTTACTTGCCACCTCCTCCAGGTGTCCTGCCTGGAGACAGTGTGGGTATCAAGAGCCAATGTGATCCAGCGCCGGGGCCGGGCGGGCCGCTGCCAGTCCGGCTTTGCCTACCACTTGTTCCCTCGAAGCCGGCTGGAGAAAATGGTCCCTTTCCAAGTGCCAGAGATCCTGCGCACACCTCTTGAGAACCTGGTGCTGCAAGCGAAAATCCACATGCCTGAGAAGACGGTGCGGCGGGGCGGGGCAGGGGCTGGCCTGGGGACCAGGCAGGTGGGAGGCAGGCTCATGGCGGGCTCTGGCTCTGTCATAGGCGGTGGAGTTCCTGTCCAAGGCTGTGGACAGTCCAAACATCAAGGCAGTGGACGAGGCTGTGATCTTGCTCCAGGAGATCGGTATGTAGGGGCTGGGCTGGGCTGGGCTGGGGAGTGGCTCTCGAGGGTGGTACTGACAGCTGAGCCGTTGCAGGGGTGCTGGACCAGCGGGAGTACCTGACTACCCTGGGGCAGCGCCTGGCTCACATCTCCACCGACCCCCGGTTGGCCAAGGCCATTGTGTTGGCTGCCATCTTCCGTTGCCTGCACCCACTACTGGTGGTCGTTTCCTGCCTCACCCGGGACCCCTTCAGCAGCAGCCTACAGAACCGGGC
CAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCCAGTGGCTTGTTTGATCAAGTTGCATTATAATCGACATTTACAGGAAATTCCACGTGCATCTGTATATGATGGGGTCACAGATGGGTCGGGTGCCATGTAGGGATTGGGAGGCGGGATGGAAGGATTAGGGGAGGAAGGCTTTGATGAGGCAGCAAAGGAAGAGGGAGTCTGTGGGGTGCGTTCTAGCATCGAGGGCCTGGCCTGGCTGGTCTGAGGGTACATGTTGGGAATTCACAGAGGTGACAGTGGCCTATTGTGGTGTTGGGGGGGCTGTAGCCACACAGTGAGTGGTTTCTCCTCAGGGCCTTCTCCAGACGTAGGGCTGTTCTGCTGTGACACATCAGGTTTAGCTTTTCTTGAATTAACTTTATTATTATTTTCTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCACCGTCATGATCTCGGCTCACTGCAACCTGTGTCTCCAGGGTTCAGGCGATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGACTATAGGTGCCGGCCCCCCACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACCCCTGACCTCAGGTGATTTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAATTAACTTTAGTTCATTTTTTAAAACGTTTATTTTGGTAAGTTAACATTTTCCTAGTTCATAATTTCTCCCTCCATCACCATGTCAGCCAAAATCCAAAATCTCTTAGAGATTACTTGGCACAACTTATGCGTTGGAGCTCCTGAGCTTGTCTGGGCTGGTTTTTGGGGAGCCCCAGAGCATAGACTGAGTCTTGCATGTCCCCCTGCAGAGCCTGGGCCTGGTGGACAGGAACAACGAACCGCTTACACACGCCATGTATAACCTGGCCTCTTTGCGTGAGCTGGGTGAGACCCAGCGCCGACCATGCACCATCCAGGTGCCCGAGCCCATCCTCCGCAAGATAGAGACCTTCCTGAACCATGTAAGAGGCCCTGCATCCCTCACCACCCCTGCTCCCTGTAGTCTGCCTCCATCTCTCCAGACTGAAGGCCTCCACCTGCGACAGGCAGTAGTACCTCCCCATTCTCTTCACTGAGTTTGGGGCCTGGGATCCCCCTGGCCTGAACAGCCCAGTCTTGCCCACAAGGATCCCGGGGCAGTCATGGACTAAATTAATCCTCTGCCCAGCGGGTTGGGCCACAACATCTGACCCAGGCGAATCCTGCAGAGTGGCTGGTTGTGTGTGAATGAGGAATTTCTTTTTCATTGTTTTGCTTGCCTCCCTGCCCTCCAGTACCCTGTGGAGAGTTCATGGATCGCCCCAGAACTCCGGCTGCAGAGTGATGACATCTTGCCCTTGGGCAAGGACTCAGGGCCTCTGAGTGACCCTATCACAGGCAAGCCCTATGTGCCCCTGTTGGAAGCAGAGGAGGTACGTCTCAGCCAGAGTCTGCTAGAACTGTGGCGGCGGCGAGGGCCGGTCTGGCAGGAGGCCCCCCAGCTACCTGTGGACCCACATCGGGACACCATCCTCAACGCCATTGAGCAGCACCCGGTGGTGGTCATCTCTGGGGACACGGGCTGTGGGAAGACCACGCGCATCCCCCAGCTGTTGCTGGAGCGCTATGTGACCGAGGGCCGAGGTGCCCGCTGCAATGTTATCATCACCCAACCTCGCCGCATCTCTGCTGTGTCTGTGGCACAGCGGGTCAGCCACGAACTGGGCCCCTCCCTGCGCCGGAATGTGGGCTTCCAGGTGCGGTTGGAAAGTAAGCCCCCATCCCGAGGCGGGGCCCTGCTCTTCTGCACTGTGGGTATCCTGCTGCGTAAGCTGCAGAGCAACCCCAGCCTGGAGGGCGTGAGCCACGTCATCGTGGATGAGGTGCGTGAGCGGGACGTGAACACAGACTTTCTGCTGATCCTGCTCAAGGGCCTGCAGCGGCTCAACCCGGCCCTGCGGCTGGTGCTCATGAGTGCCACAGGGGACAATGAGCGCTTCTCCCGATACTTTGGTGGCTGCCCCGTCATCAAGGTGCCTGGCTTCATGTACCCAGTCAAGGAGCACTACCTAGAGGACATCCTGGCCAAGTTGGGCAAGCACCAGTACCTGCACCGGCACCGGCACCATGAGGTGAGGGACACCCCCATCCCACCCAAGGCTCCTGGCCTTTCCTCCGTGGATGCCCCTCCTCCCTGGCCCTGGGGCTTGGTGCCTGGGGCAAGTTACCCTCCCCAGTCCTCGGTTTCCTTGATAGAAACTGGGGACTAACCCTGCCTGCGTGGCACACGTGAGGATTGGAGTTGATGTCAAGCGGCTCCGTCTCACTGAGTCAGGTGGCTGTGTCCTTGGCATGACCCCTTACCCCGGGGCTGTGACTGTGGCCTCTCTTCCCCCACCCCAGTCTGAGGATGAATGCGCACTCGATTTGGACCTTGTGACTGATCTGGTTCTGCACATCGATGCTCGCGGGGAACCAGGTGGGTGCCTCCCCATCTGTCCCATGCTAGCCCTGGCCACGTTTGCAGCAACAGCTGGCTCATGCCCCAGGGCTCCTTTACAGGTGGGATCCTGTGCTTCCTGCCTGGGTGGCAGGAGATCAAAGGAGTGCAGCAGCGCCTCCAGGAGGCCCTGGGCATGCACGAGAGCAAGTACCTCATCCTGCCAGGTGAGAGCCCCGGCGGAGGGACCAGGGACCTTTGGAAACCAGCCTGACCTCTGTCCTAGGGACTGACCCAACTGGGACTCCAGGGGCCCCGGTTTCTGACCAAGCTGTGGCACTTTTCACTGGGCATAGTGTTTATCTGCGCCTGTTTCATCAAAATGGGGTCAAAATCCTTGCCCTGCCCACATTCCAGGGGGGAATTCTGGTGGAAGCAGTGCCCATAACTGGTGTGTGTCTTGCCCACCAGTGCACTCCAACATCCCCATGATGGATCAGAAGGCCATATTCCAGCAGCCTCCAGTTGGGGTGCGCAAGATTGTCTTGGCCACCAACATTGCTGAGACTTCCATCACAATCAATGACATCGTGCATGTGGTGGACAGTGGGCTGCACAAGGAAGAACGCTATGACCTGAAGACCAAGGTGGCACCTACCTCCTGGGCCCGGCCAACCACTGGGGGAGGGACTCCGTTTTGAGGTGGTCCCCAGCCCAGATCTACCTTAGACCTGCTTTGTGTGTCTTCAGAAGGCCGCGCTTGTGGGGTCTCAGTGTTCCTGATGTAGGGGGCTGGTGAGGGTTACTCAGGGAGTGGGGAAGCACTGAGGAAGTGGCATTTGTGTGCTGCTTACTTGCCACCTCCTCCAGGTGTCCTGCCTGGAGACAGTGTGGGTATCAAGAGCCAATGTGATCCAGCGCCGGGGCCGGGCGGGCCGCTGCCAGTCCGGCTTTGCCTACCACTTGTTCCCTCGAAGCCGGCTGGAGAAAATGGTCCCTTTCCAAGTGCCAGAGATCCTGCGCACACCTCTTGAGAACCTGGTGCTGCAAGCGAAAATCCACATGCCTGAGAAGACGGTGCGGCGGGGCGGGGCAGGGGCTGGCCTGGGGACCAGGCAGGTGGGAGGCAGGCTCATGGCGGGCTCTGGCTCTGTCATAGGCGGTGGAGTTCCTGTCCAAGGCTGTGGACAGTCCAAACATCAAGGCAGTGGACGAGGCTGTGATCTTGCTCCAGGAGATCGGTATGTAGGGGCTGGGCTGGGCTGGGCTGGGGAGTGGCTCTCGAGGGTGGTACTGACAGCTGAGCCGTTGCAGGGGTGCTGGACCAGCGGGAGTACCTGACTACCCTGGGGCAGCGCCTGGCTCACATCTCCACCGACCCCCGGTTGGCCAAGGCCATTGTGTTGGCTGCCATCTTCCGTTGCCTGCACCCACTACTGGTGGTCGTTTCCTGCCTCACCCGGGACCCCTTCAGCAGCAGCCTACAGAACCGGGC
Task1_train_6739
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?
Pathogenic; Delayed speech and language development
CAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCCAGTGGCTTGTTTGATCAAGTTGCATTATAATCGACATTTACAGGAAATTCCACGTGCATCTGTATATGATGGGGTCACAGATGGGTCGGGTGCCATGTAGGGATTGGGAGGCGGGATGGAAGGATTAGGGGAGGAAGGCTTTGATGAGGCAGCAAAGGAAGAGGGAGTCTGTGGGGTGCGTTCTAGCATCGAGGGCCTGGCCTGGCTGGTCTGAGGGTACATGTTGGGAATTCACAGAGGTGACAGTGGCCTATTGTGGTGTTGGGGGGGCTGTAGCCACACAGTGAGTGGTTTCTCCTCAGGGCCTTCTCCAGACGTAGGGCTGTTCTGCTGTGACACATCAGGTTTAGCTTTTCTTGAATTAACTTTATTATTATTTTCTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCACCGTCATGATCTCGGCTCACTGCAACCTGTGTCTCCAGGGTTCAGGCGATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGACTATAGGTGCCGGCCCCCCACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACCCCTGACCTCAGGTGATTTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAATTAACTTTAGTTCATTTTTTAAAACGTTTATTTTGGTAAGTTAACATTTTCCTAGTTCATAATTTCTCCCTCCATCACCATGTCAGCCAAAATCCAAAATCTCTTAGAGATTACTTGGCACAACTTATGCGTTGGAGCTCCTGAGCTTGTCTGGGCTGGTTTTTGGGGAGCCCCAGAGCATAGACTGAGTCTTGCATGTCCCCCTGCAGAGCCTGGGCCTGGTGGACAGGAACAACGAACCGCTTACACACGCCATGTATAACCTGGCCTCTTTGCGTGAGCTGGGTGAGACCCAGCGCCGACCATGCACCATCCAGGTGCCCGAGCCCATCCTCCGCAAGATAGAGACCTTCCTGAACCATGTAAGAGGCCCTGCATCCCTCACCACCCCTGCTCCCTGTAGTCTGCCTCCATCTCTCCAGACTGAAGGCCTCCACCTGCGACAGGCAGTAGTACCTCCCCATTCTCTTCACTGAGTTTGGGGCCTGGGATCCCCCTGGCCTGAACAGCCCAGTCTTGCCCACAAGGATCCCGGGGCAGTCATGGACTAAATTAATCCTCTGCCCAGCGGGTTGGGCCACAACATCTGACCCAGGCGAATCCTGCAGAGTGGCTGGTTGTGTGTGAATGAGGAATTTCTTTTTCATTGTTTTGCTTGCCTCCCTGCCCTCCAGTACCCTGTGGAGAGTTCATGGATCGCCCCAGAACTCCGGCTGCAGAGTGATGACATCTTGCCCTTGGGCAAGGACTCAGGGCCTCTGAGTGACCCTATCACAGGCAAGCCCTATGTGCCCCTGTTGGAAGCAGAGGAGGTACGTCTCAGCCAGAGTCTGCTAGAACTGTGGCGGCGGCGAGGGCCGGTCTGGCAGGAGGCCCCCCAGCTACCTGTGGACCCACATCGGGACACCATCCTCAACGCCATTGAGCAGCACCCGGTGGTGGTCATCTCTGGGGACACGGGCTGTGGGAAGACCACGCGCATCCCCCAGCTGTTGCTGGAGCGCTATGTGACCGAGGGCCGAGGTGCCCGCTGCAATGTTATCATCACCCAACCTCGCCGCATCTCTGCTGTGTCTGTGGCACAGCGGGTCAGCCACGAACTGGGCCCCTCCCTGCGCCGGAATGTGGGCTTCCAGGTGCGGTTGGAAAGTAAGCCCCCATCCCGAGGCGGGGCCCTGCTCTTCTGCACTGTGGGTATCCTGCTGCGTAAGCTGCAGAGCAACCCCAGCCTGGAGGGCGTGAGCCACGTCATCGTGGATGAGGTGCATGAGCGGGACGTGAACACAGACTTTCTGCTGATCCTGCTCAAGGGCCTGCAGCGGCTCAACCCGGCCCTGCGGCTGGTGCTCATGAGTGCCACAGGGGACAATGAGCGCTTCTCCCGATACTTTGGTGGCTGCCCCGTCATCAAGGTGCCTGGCTTCATGTACCCAGTCAAGGAGCACTACCTAGAGGACATCCTGGCCAAGTTGGGCAAGCACCAGTACCTGCACCGGCACCGGCACCATGAGGTGAGGGACACCCCCATCCCACCCAAGGCTCCTGGCCTTTCCTCCGTGGATGCCCCTCCTCCCTGGCCCTGGGGCTTGGTGCCTGGGGCAAGTTACCCTCCCCAGTCCTCGGTTTCCTTGATAGAAACTGGGGACTAACCCTGCCTGCGTGGCACACGTGAGGATTGGAGTTGATGTCAAGCGGCTCCGTCTCACTGAGTCAGGTGGCTGTGTCCTTGGCATGACCCCTTACCCCGGGGCTGTGACTGTGGCCTCTCTTCCCCCACCCCAGTCTGAGGATGAATGCGCACTCGATTTGGACCTTGTGACTGATCTGGTTCTGCACATCGATGCTCGCGGGGAACCAGGTGGGTGCCTCCCCATCTGTCCCATGCTAGCCCTGGCCACGTTTGCAGCAACAGCTGGCTCATGCCCCAGGGCTCCTTTACAGGTGGGATCCTGTGCTTCCTGCCTGGGTGGCAGGAGATCAAAGGAGTGCAGCAGCGCCTCCAGGAGGCCCTGGGCATGCACGAGAGCAAGTACCTCATCCTGCCAGGTGAGAGCCCCGGCGGAGGGACCAGGGACCTTTGGAAACCAGCCTGACCTCTGTCCTAGGGACTGACCCAACTGGGACTCCAGGGGCCCCGGTTTCTGACCAAGCTGTGGCACTTTTCACTGGGCATAGTGTTTATCTGCGCCTGTTTCATCAAAATGGGGTCAAAATCCTTGCCCTGCCCACATTCCAGGGGGGAATTCTGGTGGAAGCAGTGCCCATAACTGGTGTGTGTCTTGCCCACCAGTGCACTCCAACATCCCCATGATGGATCAGAAGGCCATATTCCAGCAGCCTCCAGTTGGGGTGCGCAAGATTGTCTTGGCCACCAACATTGCTGAGACTTCCATCACAATCAATGACATCGTGCATGTGGTGGACAGTGGGCTGCACAAGGAAGAACGCTATGACCTGAAGACCAAGGTGGCACCTACCTCCTGGGCCCGGCCAACCACTGGGGGAGGGACTCCGTTTTGAGGTGGTCCCCAGCCCAGATCTACCTTAGACCTGCTTTGTGTGTCTTCAGAAGGCCGCGCTTGTGGGGTCTCAGTGTTCCTGATGTAGGGGGCTGGTGAGGGTTACTCAGGGAGTGGGGAAGCACTGAGGAAGTGGCATTTGTGTGCTGCTTACTTGCCACCTCCTCCAGGTGTCCTGCCTGGAGACAGTGTGGGTATCAAGAGCCAATGTGATCCAGCGCCGGGGCCGGGCGGGCCGCTGCCAGTCCGGCTTTGCCTACCACTTGTTCCCTCGAAGCCGGCTGGAGAAAATGGTCCCTTTCCAAGTGCCAGAGATCCTGCGCACACCTCTTGAGAACCTGGTGCTGCAAGCGAAAATCCACATGCCTGAGAAGACGGTGCGGCGGGGCGGGGCAGGGGCTGGCCTGGGGACCAGGCAGGTGGGAGGCAGGCTCATGGCGGGCTCTGGCTCTGTCATAGGCGGTGGAGTTCCTGTCCAAGGCTGTGGACAGTCCAAACATCAAGGCAGTGGACGAGGCTGTGATCTTGCTCCAGGAGATCGGTATGTAGGGGCTGGGCTGGGCTGGGCTGGGGAGTGGCTCTCGAGGGTGGTACTGACAGCTGAGCCGTTGCAGGGGTGCTGGACCAGCGGGAGTACCTGACTACCCTGGGGCAGCGCCTGGCTCACATCTCCACCGACCCCCGGTTGGCCAAGGCCATTGTGTTGGCTGCCATCTTCCGTTGCCTGCACCCACTACTGGTGGTCGTTTCCTGCCTCACCCGGGACCCCTTCAGCAGCAGCCTACAGAACCGGGC
CAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCCAGTGGCTTGTTTGATCAAGTTGCATTATAATCGACATTTACAGGAAATTCCACGTGCATCTGTATATGATGGGGTCACAGATGGGTCGGGTGCCATGTAGGGATTGGGAGGCGGGATGGAAGGATTAGGGGAGGAAGGCTTTGATGAGGCAGCAAAGGAAGAGGGAGTCTGTGGGGTGCGTTCTAGCATCGAGGGCCTGGCCTGGCTGGTCTGAGGGTACATGTTGGGAATTCACAGAGGTGACAGTGGCCTATTGTGGTGTTGGGGGGGCTGTAGCCACACAGTGAGTGGTTTCTCCTCAGGGCCTTCTCCAGACGTAGGGCTGTTCTGCTGTGACACATCAGGTTTAGCTTTTCTTGAATTAACTTTATTATTATTTTCTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCACCGTCATGATCTCGGCTCACTGCAACCTGTGTCTCCAGGGTTCAGGCGATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGACTATAGGTGCCGGCCCCCCACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACCCCTGACCTCAGGTGATTTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAATTAACTTTAGTTCATTTTTTAAAACGTTTATTTTGGTAAGTTAACATTTTCCTAGTTCATAATTTCTCCCTCCATCACCATGTCAGCCAAAATCCAAAATCTCTTAGAGATTACTTGGCACAACTTATGCGTTGGAGCTCCTGAGCTTGTCTGGGCTGGTTTTTGGGGAGCCCCAGAGCATAGACTGAGTCTTGCATGTCCCCCTGCAGAGCCTGGGCCTGGTGGACAGGAACAACGAACCGCTTACACACGCCATGTATAACCTGGCCTCTTTGCGTGAGCTGGGTGAGACCCAGCGCCGACCATGCACCATCCAGGTGCCCGAGCCCATCCTCCGCAAGATAGAGACCTTCCTGAACCATGTAAGAGGCCCTGCATCCCTCACCACCCCTGCTCCCTGTAGTCTGCCTCCATCTCTCCAGACTGAAGGCCTCCACCTGCGACAGGCAGTAGTACCTCCCCATTCTCTTCACTGAGTTTGGGGCCTGGGATCCCCCTGGCCTGAACAGCCCAGTCTTGCCCACAAGGATCCCGGGGCAGTCATGGACTAAATTAATCCTCTGCCCAGCGGGTTGGGCCACAACATCTGACCCAGGCGAATCCTGCAGAGTGGCTGGTTGTGTGTGAATGAGGAATTTCTTTTTCATTGTTTTGCTTGCCTCCCTGCCCTCCAGTACCCTGTGGAGAGTTCATGGATCGCCCCAGAACTCCGGCTGCAGAGTGATGACATCTTGCCCTTGGGCAAGGACTCAGGGCCTCTGAGTGACCCTATCACAGGCAAGCCCTATGTGCCCCTGTTGGAAGCAGAGGAGGTACGTCTCAGCCAGAGTCTGCTAGAACTGTGGCGGCGGCGAGGGCCGGTCTGGCAGGAGGCCCCCCAGCTACCTGTGGACCCACATCGGGACACCATCCTCAACGCCATTGAGCAGCACCCGGTGGTGGTCATCTCTGGGGACACGGGCTGTGGGAAGACCACGCGCATCCCCCAGCTGTTGCTGGAGCGCTATGTGACCGAGGGCCGAGGTGCCCGCTGCAATGTTATCATCACCCAACCTCGCCGCATCTCTGCTGTGTCTGTGGCACAGCGGGTCAGCCACGAACTGGGCCCCTCCCTGCGCCGGAATGTGGGCTTCCAGGTGCGGTTGGAAAGTAAGCCCCCATCCCGAGGCGGGGCCCTGCTCTTCTGCACTGTGGGTATCCTGCTGCGTAAGCTGCAGAGCAACCCCAGCCTGGAGGGCGTGAGCCACGTCATCGTGGATGAGGTGCGTGAGCGGGACGTGAACACAGACTTTCTGCTGATCCTGCTCAAGGGCCTGCAGCGGCTCAACCCGGCCCTGCGGCTGGTGCTCATGAGTGCCACAGGGGACAATGAGCGCTTCTCCCGATACTTTGGTGGCTGCCCCGTCATCAAGGTGCCTGGCTTCATGTACCCAGTCAAGGAGCACTACCTAGAGGACATCCTGGCCAAGTTGGGCAAGCACCAGTACCTGCACCGGCACCGGCACCATGAGGTGAGGGACACCCCCATCCCACCCAAGGCTCCTGGCCTTTCCTCCGTGGATGCCCCTCCTCCCTGGCCCTGGGGCTTGGTGCCTGGGGCAAGTTACCCTCCCCAGTCCTCGGTTTCCTTGATAGAAACTGGGGACTAACCCTGCCTGCGTGGCACACGTGAGGATTGGAGTTGATGTCAAGCGGCTCCGTCTCACTGAGTCAGGTGGCTGTGTCCTTGGCATGACCCCTTACCCCGGGGCTGTGACTGTGGCCTCTCTTCCCCCACCCCAGTCTGAGGATGAATGCGCACTCGATTTGGACCTTGTGACTGATCTGGTTCTGCACATCGATGCTCGCGGGGAACCAGGTGGGTGCCTCCCCATCTGTCCCATGCTAGCCCTGGCCACGTTTGCAGCAACAGCTGGCTCATGCCCCAGGGCTCCTTTACAGGTGGGATCCTGTGCTTCCTGCCTGGGTGGCAGGAGATCAAAGGAGTGCAGCAGCGCCTCCAGGAGGCCCTGGGCATGCACGAGAGCAAGTACCTCATCCTGCCAGGTGAGAGCCCCGGCGGAGGGACCAGGGACCTTTGGAAACCAGCCTGACCTCTGTCCTAGGGACTGACCCAACTGGGACTCCAGGGGCCCCGGTTTCTGACCAAGCTGTGGCACTTTTCACTGGGCATAGTGTTTATCTGCGCCTGTTTCATCAAAATGGGGTCAAAATCCTTGCCCTGCCCACATTCCAGGGGGGAATTCTGGTGGAAGCAGTGCCCATAACTGGTGTGTGTCTTGCCCACCAGTGCACTCCAACATCCCCATGATGGATCAGAAGGCCATATTCCAGCAGCCTCCAGTTGGGGTGCGCAAGATTGTCTTGGCCACCAACATTGCTGAGACTTCCATCACAATCAATGACATCGTGCATGTGGTGGACAGTGGGCTGCACAAGGAAGAACGCTATGACCTGAAGACCAAGGTGGCACCTACCTCCTGGGCCCGGCCAACCACTGGGGGAGGGACTCCGTTTTGAGGTGGTCCCCAGCCCAGATCTACCTTAGACCTGCTTTGTGTGTCTTCAGAAGGCCGCGCTTGTGGGGTCTCAGTGTTCCTGATGTAGGGGGCTGGTGAGGGTTACTCAGGGAGTGGGGAAGCACTGAGGAAGTGGCATTTGTGTGCTGCTTACTTGCCACCTCCTCCAGGTGTCCTGCCTGGAGACAGTGTGGGTATCAAGAGCCAATGTGATCCAGCGCCGGGGCCGGGCGGGCCGCTGCCAGTCCGGCTTTGCCTACCACTTGTTCCCTCGAAGCCGGCTGGAGAAAATGGTCCCTTTCCAAGTGCCAGAGATCCTGCGCACACCTCTTGAGAACCTGGTGCTGCAAGCGAAAATCCACATGCCTGAGAAGACGGTGCGGCGGGGCGGGGCAGGGGCTGGCCTGGGGACCAGGCAGGTGGGAGGCAGGCTCATGGCGGGCTCTGGCTCTGTCATAGGCGGTGGAGTTCCTGTCCAAGGCTGTGGACAGTCCAAACATCAAGGCAGTGGACGAGGCTGTGATCTTGCTCCAGGAGATCGGTATGTAGGGGCTGGGCTGGGCTGGGCTGGGGAGTGGCTCTCGAGGGTGGTACTGACAGCTGAGCCGTTGCAGGGGTGCTGGACCAGCGGGAGTACCTGACTACCCTGGGGCAGCGCCTGGCTCACATCTCCACCGACCCCCGGTTGGCCAAGGCCATTGTGTTGGCTGCCATCTTCCGTTGCCTGCACCCACTACTGGTGGTCGTTTCCTGCCTCACCCGGGACCCCTTCAGCAGCAGCCTACAGAACCGGGC
Task1_train_6740
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.
Pathogenic; Microcephaly
CAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCCAGTGGCTTGTTTGATCAAGTTGCATTATAATCGACATTTACAGGAAATTCCACGTGCATCTGTATATGATGGGGTCACAGATGGGTCGGGTGCCATGTAGGGATTGGGAGGCGGGATGGAAGGATTAGGGGAGGAAGGCTTTGATGAGGCAGCAAAGGAAGAGGGAGTCTGTGGGGTGCGTTCTAGCATCGAGGGCCTGGCCTGGCTGGTCTGAGGGTACATGTTGGGAATTCACAGAGGTGACAGTGGCCTATTGTGGTGTTGGGGGGGCTGTAGCCACACAGTGAGTGGTTTCTCCTCAGGGCCTTCTCCAGACGTAGGGCTGTTCTGCTGTGACACATCAGGTTTAGCTTTTCTTGAATTAACTTTATTATTATTTTCTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCACCGTCATGATCTCGGCTCACTGCAACCTGTGTCTCCAGGGTTCAGGCGATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGACTATAGGTGCCGGCCCCCCACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACCCCTGACCTCAGGTGATTTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAATTAACTTTAGTTCATTTTTTAAAACGTTTATTTTGGTAAGTTAACATTTTCCTAGTTCATAATTTCTCCCTCCATCACCATGTCAGCCAAAATCCAAAATCTCTTAGAGATTACTTGGCACAACTTATGCGTTGGAGCTCCTGAGCTTGTCTGGGCTGGTTTTTGGGGAGCCCCAGAGCATAGACTGAGTCTTGCATGTCCCCCTGCAGAGCCTGGGCCTGGTGGACAGGAACAACGAACCGCTTACACACGCCATGTATAACCTGGCCTCTTTGCGTGAGCTGGGTGAGACCCAGCGCCGACCATGCACCATCCAGGTGCCCGAGCCCATCCTCCGCAAGATAGAGACCTTCCTGAACCATGTAAGAGGCCCTGCATCCCTCACCACCCCTGCTCCCTGTAGTCTGCCTCCATCTCTCCAGACTGAAGGCCTCCACCTGCGACAGGCAGTAGTACCTCCCCATTCTCTTCACTGAGTTTGGGGCCTGGGATCCCCCTGGCCTGAACAGCCCAGTCTTGCCCACAAGGATCCCGGGGCAGTCATGGACTAAATTAATCCTCTGCCCAGCGGGTTGGGCCACAACATCTGACCCAGGCGAATCCTGCAGAGTGGCTGGTTGTGTGTGAATGAGGAATTTCTTTTTCATTGTTTTGCTTGCCTCCCTGCCCTCCAGTACCCTGTGGAGAGTTCATGGATCGCCCCAGAACTCCGGCTGCAGAGTGATGACATCTTGCCCTTGGGCAAGGACTCAGGGCCTCTGAGTGACCCTATCACAGGCAAGCCCTATGTGCCCCTGTTGGAAGCAGAGGAGGTACGTCTCAGCCAGAGTCTGCTAGAACTGTGGCGGCGGCGAGGGCCGGTCTGGCAGGAGGCCCCCCAGCTACCTGTGGACCCACATCGGGACACCATCCTCAACGCCATTGAGCAGCACCCGGTGGTGGTCATCTCTGGGGACACGGGCTGTGGGAAGACCACGCGCATCCCCCAGCTGTTGCTGGAGCGCTATGTGACCGAGGGCCGAGGTGCCCGCTGCAATGTTATCATCACCCAACCTCGCCGCATCTCTGCTGTGTCTGTGGCACAGCGGGTCAGCCACGAACTGGGCCCCTCCCTGCGCCGGAATGTGGGCTTCCAGGTGCGGTTGGAAAGTAAGCCCCCATCCCGAGGCGGGGCCCTGCTCTTCTGCACTGTGGGTATCCTGCTGCGTAAGCTGCAGAGCAACCCCAGCCTGGAGGGCGTGAGCCACGTCATCGTGGATGAGGTGCATGAGCGGGACGTGAACACAGACTTTCTGCTGATCCTGCTCAAGGGCCTGCAGCGGCTCAACCCGGCCCTGCGGCTGGTGCTCATGAGTGCCACAGGGGACAATGAGCGCTTCTCCCGATACTTTGGTGGCTGCCCCGTCATCAAGGTGCCTGGCTTCATGTACCCAGTCAAGGAGCACTACCTAGAGGACATCCTGGCCAAGTTGGGCAAGCACCAGTACCTGCACCGGCACCGGCACCATGAGGTGAGGGACACCCCCATCCCACCCAAGGCTCCTGGCCTTTCCTCCGTGGATGCCCCTCCTCCCTGGCCCTGGGGCTTGGTGCCTGGGGCAAGTTACCCTCCCCAGTCCTCGGTTTCCTTGATAGAAACTGGGGACTAACCCTGCCTGCGTGGCACACGTGAGGATTGGAGTTGATGTCAAGCGGCTCCGTCTCACTGAGTCAGGTGGCTGTGTCCTTGGCATGACCCCTTACCCCGGGGCTGTGACTGTGGCCTCTCTTCCCCCACCCCAGTCTGAGGATGAATGCGCACTCGATTTGGACCTTGTGACTGATCTGGTTCTGCACATCGATGCTCGCGGGGAACCAGGTGGGTGCCTCCCCATCTGTCCCATGCTAGCCCTGGCCACGTTTGCAGCAACAGCTGGCTCATGCCCCAGGGCTCCTTTACAGGTGGGATCCTGTGCTTCCTGCCTGGGTGGCAGGAGATCAAAGGAGTGCAGCAGCGCCTCCAGGAGGCCCTGGGCATGCACGAGAGCAAGTACCTCATCCTGCCAGGTGAGAGCCCCGGCGGAGGGACCAGGGACCTTTGGAAACCAGCCTGACCTCTGTCCTAGGGACTGACCCAACTGGGACTCCAGGGGCCCCGGTTTCTGACCAAGCTGTGGCACTTTTCACTGGGCATAGTGTTTATCTGCGCCTGTTTCATCAAAATGGGGTCAAAATCCTTGCCCTGCCCACATTCCAGGGGGGAATTCTGGTGGAAGCAGTGCCCATAACTGGTGTGTGTCTTGCCCACCAGTGCACTCCAACATCCCCATGATGGATCAGAAGGCCATATTCCAGCAGCCTCCAGTTGGGGTGCGCAAGATTGTCTTGGCCACCAACATTGCTGAGACTTCCATCACAATCAATGACATCGTGCATGTGGTGGACAGTGGGCTGCACAAGGAAGAACGCTATGACCTGAAGACCAAGGTGGCACCTACCTCCTGGGCCCGGCCAACCACTGGGGGAGGGACTCCGTTTTGAGGTGGTCCCCAGCCCAGATCTACCTTAGACCTGCTTTGTGTGTCTTCAGAAGGCCGCGCTTGTGGGGTCTCAGTGTTCCTGATGTAGGGGGCTGGTGAGGGTTACTCAGGGAGTGGGGAAGCACTGAGGAAGTGGCATTTGTGTGCTGCTTACTTGCCACCTCCTCCAGGTGTCCTGCCTGGAGACAGTGTGGGTATCAAGAGCCAATGTGATCCAGCGCCGGGGCCGGGCGGGCCGCTGCCAGTCCGGCTTTGCCTACCACTTGTTCCCTCGAAGCCGGCTGGAGAAAATGGTCCCTTTCCAAGTGCCAGAGATCCTGCGCACACCTCTTGAGAACCTGGTGCTGCAAGCGAAAATCCACATGCCTGAGAAGACGGTGCGGCGGGGCGGGGCAGGGGCTGGCCTGGGGACCAGGCAGGTGGGAGGCAGGCTCATGGCGGGCTCTGGCTCTGTCATAGGCGGTGGAGTTCCTGTCCAAGGCTGTGGACAGTCCAAACATCAAGGCAGTGGACGAGGCTGTGATCTTGCTCCAGGAGATCGGTATGTAGGGGCTGGGCTGGGCTGGGCTGGGGAGTGGCTCTCGAGGGTGGTACTGACAGCTGAGCCGTTGCAGGGGTGCTGGACCAGCGGGAGTACCTGACTACCCTGGGGCAGCGCCTGGCTCACATCTCCACCGACCCCCGGTTGGCCAAGGCCATTGTGTTGGCTGCCATCTTCCGTTGCCTGCACCCACTACTGGTGGTCGTTTCCTGCCTCACCCGGGACCCCTTCAGCAGCAGCCTACAGAACCGGGC
CAGGAACACAAGACTAGTTTTACCCATGTGCGTGAGGTATTGGAATGCTATGTTTTATCTCTGGTGAGGTGGCTTTAGGTATGTAGGGAGGTAAGACACAGTGTTTTCCTTCCAGTGGCTTGTTTGATCAAGTTGCATTATAATCGACATTTACAGGAAATTCCACGTGCATCTGTATATGATGGGGTCACAGATGGGTCGGGTGCCATGTAGGGATTGGGAGGCGGGATGGAAGGATTAGGGGAGGAAGGCTTTGATGAGGCAGCAAAGGAAGAGGGAGTCTGTGGGGTGCGTTCTAGCATCGAGGGCCTGGCCTGGCTGGTCTGAGGGTACATGTTGGGAATTCACAGAGGTGACAGTGGCCTATTGTGGTGTTGGGGGGGCTGTAGCCACACAGTGAGTGGTTTCTCCTCAGGGCCTTCTCCAGACGTAGGGCTGTTCTGCTGTGACACATCAGGTTTAGCTTTTCTTGAATTAACTTTATTATTATTTTCTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCACCGTCATGATCTCGGCTCACTGCAACCTGTGTCTCCAGGGTTCAGGCGATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGACTATAGGTGCCGGCCCCCCACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACCCCTGACCTCAGGTGATTTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAATTAACTTTAGTTCATTTTTTAAAACGTTTATTTTGGTAAGTTAACATTTTCCTAGTTCATAATTTCTCCCTCCATCACCATGTCAGCCAAAATCCAAAATCTCTTAGAGATTACTTGGCACAACTTATGCGTTGGAGCTCCTGAGCTTGTCTGGGCTGGTTTTTGGGGAGCCCCAGAGCATAGACTGAGTCTTGCATGTCCCCCTGCAGAGCCTGGGCCTGGTGGACAGGAACAACGAACCGCTTACACACGCCATGTATAACCTGGCCTCTTTGCGTGAGCTGGGTGAGACCCAGCGCCGACCATGCACCATCCAGGTGCCCGAGCCCATCCTCCGCAAGATAGAGACCTTCCTGAACCATGTAAGAGGCCCTGCATCCCTCACCACCCCTGCTCCCTGTAGTCTGCCTCCATCTCTCCAGACTGAAGGCCTCCACCTGCGACAGGCAGTAGTACCTCCCCATTCTCTTCACTGAGTTTGGGGCCTGGGATCCCCCTGGCCTGAACAGCCCAGTCTTGCCCACAAGGATCCCGGGGCAGTCATGGACTAAATTAATCCTCTGCCCAGCGGGTTGGGCCACAACATCTGACCCAGGCGAATCCTGCAGAGTGGCTGGTTGTGTGTGAATGAGGAATTTCTTTTTCATTGTTTTGCTTGCCTCCCTGCCCTCCAGTACCCTGTGGAGAGTTCATGGATCGCCCCAGAACTCCGGCTGCAGAGTGATGACATCTTGCCCTTGGGCAAGGACTCAGGGCCTCTGAGTGACCCTATCACAGGCAAGCCCTATGTGCCCCTGTTGGAAGCAGAGGAGGTACGTCTCAGCCAGAGTCTGCTAGAACTGTGGCGGCGGCGAGGGCCGGTCTGGCAGGAGGCCCCCCAGCTACCTGTGGACCCACATCGGGACACCATCCTCAACGCCATTGAGCAGCACCCGGTGGTGGTCATCTCTGGGGACACGGGCTGTGGGAAGACCACGCGCATCCCCCAGCTGTTGCTGGAGCGCTATGTGACCGAGGGCCGAGGTGCCCGCTGCAATGTTATCATCACCCAACCTCGCCGCATCTCTGCTGTGTCTGTGGCACAGCGGGTCAGCCACGAACTGGGCCCCTCCCTGCGCCGGAATGTGGGCTTCCAGGTGCGGTTGGAAAGTAAGCCCCCATCCCGAGGCGGGGCCCTGCTCTTCTGCACTGTGGGTATCCTGCTGCGTAAGCTGCAGAGCAACCCCAGCCTGGAGGGCGTGAGCCACGTCATCGTGGATGAGGTGCGTGAGCGGGACGTGAACACAGACTTTCTGCTGATCCTGCTCAAGGGCCTGCAGCGGCTCAACCCGGCCCTGCGGCTGGTGCTCATGAGTGCCACAGGGGACAATGAGCGCTTCTCCCGATACTTTGGTGGCTGCCCCGTCATCAAGGTGCCTGGCTTCATGTACCCAGTCAAGGAGCACTACCTAGAGGACATCCTGGCCAAGTTGGGCAAGCACCAGTACCTGCACCGGCACCGGCACCATGAGGTGAGGGACACCCCCATCCCACCCAAGGCTCCTGGCCTTTCCTCCGTGGATGCCCCTCCTCCCTGGCCCTGGGGCTTGGTGCCTGGGGCAAGTTACCCTCCCCAGTCCTCGGTTTCCTTGATAGAAACTGGGGACTAACCCTGCCTGCGTGGCACACGTGAGGATTGGAGTTGATGTCAAGCGGCTCCGTCTCACTGAGTCAGGTGGCTGTGTCCTTGGCATGACCCCTTACCCCGGGGCTGTGACTGTGGCCTCTCTTCCCCCACCCCAGTCTGAGGATGAATGCGCACTCGATTTGGACCTTGTGACTGATCTGGTTCTGCACATCGATGCTCGCGGGGAACCAGGTGGGTGCCTCCCCATCTGTCCCATGCTAGCCCTGGCCACGTTTGCAGCAACAGCTGGCTCATGCCCCAGGGCTCCTTTACAGGTGGGATCCTGTGCTTCCTGCCTGGGTGGCAGGAGATCAAAGGAGTGCAGCAGCGCCTCCAGGAGGCCCTGGGCATGCACGAGAGCAAGTACCTCATCCTGCCAGGTGAGAGCCCCGGCGGAGGGACCAGGGACCTTTGGAAACCAGCCTGACCTCTGTCCTAGGGACTGACCCAACTGGGACTCCAGGGGCCCCGGTTTCTGACCAAGCTGTGGCACTTTTCACTGGGCATAGTGTTTATCTGCGCCTGTTTCATCAAAATGGGGTCAAAATCCTTGCCCTGCCCACATTCCAGGGGGGAATTCTGGTGGAAGCAGTGCCCATAACTGGTGTGTGTCTTGCCCACCAGTGCACTCCAACATCCCCATGATGGATCAGAAGGCCATATTCCAGCAGCCTCCAGTTGGGGTGCGCAAGATTGTCTTGGCCACCAACATTGCTGAGACTTCCATCACAATCAATGACATCGTGCATGTGGTGGACAGTGGGCTGCACAAGGAAGAACGCTATGACCTGAAGACCAAGGTGGCACCTACCTCCTGGGCCCGGCCAACCACTGGGGGAGGGACTCCGTTTTGAGGTGGTCCCCAGCCCAGATCTACCTTAGACCTGCTTTGTGTGTCTTCAGAAGGCCGCGCTTGTGGGGTCTCAGTGTTCCTGATGTAGGGGGCTGGTGAGGGTTACTCAGGGAGTGGGGAAGCACTGAGGAAGTGGCATTTGTGTGCTGCTTACTTGCCACCTCCTCCAGGTGTCCTGCCTGGAGACAGTGTGGGTATCAAGAGCCAATGTGATCCAGCGCCGGGGCCGGGCGGGCCGCTGCCAGTCCGGCTTTGCCTACCACTTGTTCCCTCGAAGCCGGCTGGAGAAAATGGTCCCTTTCCAAGTGCCAGAGATCCTGCGCACACCTCTTGAGAACCTGGTGCTGCAAGCGAAAATCCACATGCCTGAGAAGACGGTGCGGCGGGGCGGGGCAGGGGCTGGCCTGGGGACCAGGCAGGTGGGAGGCAGGCTCATGGCGGGCTCTGGCTCTGTCATAGGCGGTGGAGTTCCTGTCCAAGGCTGTGGACAGTCCAAACATCAAGGCAGTGGACGAGGCTGTGATCTTGCTCCAGGAGATCGGTATGTAGGGGCTGGGCTGGGCTGGGCTGGGGAGTGGCTCTCGAGGGTGGTACTGACAGCTGAGCCGTTGCAGGGGTGCTGGACCAGCGGGAGTACCTGACTACCCTGGGGCAGCGCCTGGCTCACATCTCCACCGACCCCCGGTTGGCCAAGGCCATTGTGTTGGCTGCCATCTTCCGTTGCCTGCACCCACTACTGGTGGTCGTTTCCTGCCTCACCCGGGACCCCTTCAGCAGCAGCCTACAGAACCGGGC
Task1_train_6741
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?
Pathogenic; Neurodevelopmental disorder with severe motor impairment and absent language
TCGCCCCAGAACTCCGGCTGCAGAGTGATGACATCTTGCCCTTGGGCAAGGACTCAGGGCCTCTGAGTGACCCTATCACAGGCAAGCCCTATGTGCCCCTGTTGGAAGCAGAGGAGGTACGTCTCAGCCAGAGTCTGCTAGAACTGTGGCGGCGGCGAGGGCCGGTCTGGCAGGAGGCCCCCCAGCTACCTGTGGACCCACATCGGGACACCATCCTCAACGCCATTGAGCAGCACCCGGTGGTGGTCATCTCTGGGGACACGGGCTGTGGGAAGACCACGCGCATCCCCCAGCTGTTGCTGGAGCGCTATGTGACCGAGGGCCGAGGTGCCCGCTGCAATGTTATCATCACCCAACCTCGCCGCATCTCTGCTGTGTCTGTGGCACAGCGGGTCAGCCACGAACTGGGCCCCTCCCTGCGCCGGAATGTGGGCTTCCAGGTGCGGTTGGAAAGTAAGCCCCCATCCCGAGGCGGGGCCCTGCTCTTCTGCACTGTGGGTATCCTGCTGCGTAAGCTGCAGAGCAACCCCAGCCTGGAGGGCGTGAGCCACGTCATCGTGGATGAGGTGCATGAGCGGGACGTGAACACAGACTTTCTGCTGATCCTGCTCAAGGGCCTGCAGCGGCTCAACCCGGCCCTGCGGCTGGTGCTCATGAGTGCCACAGGGGACAATGAGCGCTTCTCCCGATACTTTGGTGGCTGCCCCGTCATCAAGGTGCCTGGCTTCATGTACCCAGTCAAGGAGCACTACCTAGAGGACATCCTGGCCAAGTTGGGCAAGCACCAGTACCTGCACCGGCACCGGCACCATGAGGTGAGGGACACCCCCATCCCACCCAAGGCTCCTGGCCTTTCCTCCGTGGATGCCCCTCCTCCCTGGCCCTGGGGCTTGGTGCCTGGGGCAAGTTACCCTCCCCAGTCCTCGGTTTCCTTGATAGAAACTGGGGACTAACCCTGCCTGCGTGGCACACGTGAGGATTGGAGTTGATGTCAAGCGGCTCCGTCTCACTGAGTCAGGTGGCTGTGTCCTTGGCATGACCCCTTACCCCGGGGCTGTGACTGTGGCCTCTCTTCCCCCACCCCAGTCTGAGGATGAATGCGCACTCGATTTGGACCTTGTGACTGATCTGGTTCTGCACATCGATGCTCGCGGGGAACCAGGTGGGTGCCTCCCCATCTGTCCCATGCTAGCCCTGGCCACGTTTGCAGCAACAGCTGGCTCATGCCCCAGGGCTCCTTTACAGGTGGGATCCTGTGCTTCCTGCCTGGGTGGCAGGAGATCAAAGGAGTGCAGCAGCGCCTCCAGGAGGCCCTGGGCATGCACGAGAGCAAGTACCTCATCCTGCCAGGTGAGAGCCCCGGCGGAGGGACCAGGGACCTTTGGAAACCAGCCTGACCTCTGTCCTAGGGACTGACCCAACTGGGACTCCAGGGGCCCCGGTTTCTGACCAAGCTGTGGCACTTTTCACTGGGCATAGTGTTTATCTGCGCCTGTTTCATCAAAATGGGGTCAAAATCCTTGCCCTGCCCACATTCCAGGGGGGAATTCTGGTGGAAGCAGTGCCCATAACTGGTGTGTGTCTTGCCCACCAGTGCACTCCAACATCCCCATGATGGATCAGAAGGCCATATTCCAGCAGCCTCCAGTTGGGGTGCGCAAGATTGTCTTGGCCACCAACATTGCTGAGACTTCCATCACAATCAATGACATCGTGCATGTGGTGGACAGTGGGCTGCACAAGGAAGAACGCTATGACCTGAAGACCAAGGTGGCACCTACCTCCTGGGCCCGGCCAACCACTGGGGGAGGGACTCCGTTTTGAGGTGGTCCCCAGCCCAGATCTACCTTAGACCTGCTTTGTGTGTCTTCAGAAGGCCGCGCTTGTGGGGTCTCAGTGTTCCTGATGTAGGGGGCTGGTGAGGGTTACTCAGGGAGTGGGGAAGCACTGAGGAAGTGGCATTTGTGTGCTGCTTACTTGCCACCTCCTCCAGGTGTCCTGCCTGGAGACAGTGTGGGTATCAAGAGCCAATGTGATCCAGCGCCGGGGCCGGGCGGGCCGCTGCCAGTCCGGCTTTGCCTACCACTTGTTCCCTCGAAGCCGGCTGGAGAAAATGGTCCCTTTCCAAGTGCCAGAGATCCTGCGCACACCTCTTGAGAACCTGGTGCTGCAAGCGAAAATCCACATGCCTGAGAAGACGGTGCGGCGGGGCGGGGCAGGGGCTGGCCTGGGGACCAGGCAGGTGGGAGGCAGGCTCATGGCGGGCTCTGGCTCTGTCATAGGCGGTGGAGTTCCTGTCCAAGGCTGTGGACAGTCCAAACATCAAGGCAGTGGACGAGGCTGTGATCTTGCTCCAGGAGATCGGTATGTAGGGGCTGGGCTGGGCTGGGCTGGGGAGTGGCTCTCGAGGGTGGTACTGACAGCTGAGCCGTTGCAGGGGTGCTGGACCAGCGGGAGTACCTGACTACCCTGGGGCAGCGCCTGGCTCACATCTCCACCGACCCCCGGTTGGCCAAGGCCATTGTGTTGGCTGCCATCTTCCGTTGCCTGCACCCACTACTGGTGGTCGTTTCCTGCCTCACCCGGGACCCCTTCAGCAGCAGCCTACAGAACCGGGCAGAGGTGGACAAGGTCAGTCCTGGCTCCTTCCTGGAGCCGTCCACCCACTGCTGTTCTGAGGGGGCGTTGTCTAGCCCCTGCCTGTGATCCGGCTGCCCTCTTCTCCCCTCCCAGGTGAAAGCACTGTTGAGCCATGACAGCGGCAGTGACCACCTGGCCTTTGTGCGGGCTGTCGCCGGCTGGGAGGAGGTGCTGCGTTGGCAGGACCGCAGCTCCCGGGAGAATTACCTGGAGGAAAACCTGCTGTACGCACCCAGCCTGCGCTTCATCCACGGTCAGTCGGGCCCACACCTGCTCTCCTGAGCCCCTCCCACCCCCACTGAGTTTCTGTCACCTCCAGCCTGTGGCTAGGGGCTGTAGGTCCACCACACATTCTGTCTCCCTAGGACTCATCAAGCAGTTCTCAGAGAACATTTATGAGGCCTTCCTGGTGGGGAAGCCCTCGGACTGCACCCTGGCCTCCGCCCAGTGCAACGAGTACAGTGAGGAGGAGGAGCTGGTGAAGGGCGTGCTGATGGCCGGCCTCTACCCCAACCTCATCCAGGTGCTGCCTCTGGGAGGGAATGGAGTTCACCAGGTCCCAGCCTCCTTCCCTGTCTGCAGCTCCTTGCTCAGCCCCACCCGTCTTTTCCTCCATCCCTGCAGGTGAGGCAGGGCAAGGTCACCCGGCAGGGGAAGTTCAAGCCCAACAGCGTCACATATAGGACCAAATCAGGCAACATCCTGCTGCACAAGTCGACCATTAACAGGTGAGGGCATGCAGGCCTGGATGGGGCAGCTGGGATGGTCCAAAAGGGTGGCCTCACCAGCCCTGTGTTCCCTAGGGAGGCCACACGGTTACGGAGCCGATGGCTGACGTATTTCATGGCAGTCAAGTCCAATGGCAGCGTCTTCGTCCGGGACTCCTCTCAGGTGCACCCGCTAGCTGTGCTGCTGCTGACCGACGGGGACGTGCACATCCGTGGTGGGTGCCTGCAGGCCTCCCGCCCACCCCGCTCTGCAGCTGCTCCTCCGGGGCCTGGCCTCACCACAGTTCCCCACCATCTTTTCCATTCCCTCAGATGACGGGCGCCGGGCCACCATCTCACTGAGCGACAGTGACCTGCTGCGGCTGGAGGGTGACTCGCGTACCGTGCGGCTGCTGAAGGAGCTGCGGCGGGCCCTGGGCCGCATGGTGGAGCGGAGCCTGCGCAGCGAGCTGGCTGCACTTCCCCCCAGCGTACAGGAGGAGCACGGGCAGCTGCTTGCGCTACTGGCAGAGCTGCTGCGAGGACCCTGTGGCAGCTTTGATGTGCGCAAGACAGCTGACGACTGAGCCCTGCTTCTGCTGGGGCTGTGTACAGAGTGCAAATGTTTATTTAAAATAAAGTTCTATTTATCCCTTGTGACCACTGCTGTCCACTAGGGGCTCCTCTCTCAGGGCCTCCATACACTGGGCCACGGTTCCCCAAAGAGGAAGGAGGAAGGTAGGTAGAGA
TCGCCCCAGAACTCCGGCTGCAGAGTGATGACATCTTGCCCTTGGGCAAGGACTCAGGGCCTCTGAGTGACCCTATCACAGGCAAGCCCTATGTGCCCCTGTTGGAAGCAGAGGAGGTACGTCTCAGCCAGAGTCTGCTAGAACTGTGGCGGCGGCGAGGGCCGGTCTGGCAGGAGGCCCCCCAGCTACCTGTGGACCCACATCGGGACACCATCCTCAACGCCATTGAGCAGCACCCGGTGGTGGTCATCTCTGGGGACACGGGCTGTGGGAAGACCACGCGCATCCCCCAGCTGTTGCTGGAGCGCTATGTGACCGAGGGCCGAGGTGCCCGCTGCAATGTTATCATCACCCAACCTCGCCGCATCTCTGCTGTGTCTGTGGCACAGCGGGTCAGCCACGAACTGGGCCCCTCCCTGCGCCGGAATGTGGGCTTCCAGGTGCGGTTGGAAAGTAAGCCCCCATCCCGAGGCGGGGCCCTGCTCTTCTGCACTGTGGGTATCCTGCTGCGTAAGCTGCAGAGCAACCCCAGCCTGGAGGGCGTGAGCCACGTCATCGTGGATGAGGTGCATGAGCGGGACGTGAACACAGACTTTCTGCTGATCCTGCTCAAGGGCCTGCAGCGGCTCAACCCGGCCCTGCGGCTGGTGCTCATGAGTGCCACAGGGGACAATGAGCGCTTCTCCCGATACTTTGGTGGCTGCCCCGTCATCAAGGTGCCTGGCTTCATGTACCCAGTCAAGGAGCACTACCTAGAGGACATCCTGGCCAAGTTGGGCAAGCACCAGTACCTGCACCGGCACCGGCACCATGAGGTGAGGGACACCCCCATCCCACCCAAGGCTCCTGGCCTTTCCTCCGTGGATGCCCCTCCTCCCTGGCCCTGGGGCTTGGTGCCTGGGGCAAGTTACCCTCCCCAGTCCTCGGTTTCCTTGATAGAAACTGGGGACTAACCCTGCCTGCGTGGCACACGTGAGGATTGGAGTTGATGTCAAGCGGCTCCGTCTCACTGAGTCAGGTGGCTGTGTCCTTGGCATGACCCCTTACCCCGGGGCTGTGACTGTGGCCTCTCTTCCCCCACCCCAGTCTGAGGATGAATGCGCACTCGATTTGGACCTTGTGACTGATCTGGTTCTGCACATCGATGCTCGCGGGGAACCAGGTGGGTGCCTCCCCATCTGTCCCATGCTAGCCCTGGCCACGTTTGCAGCAACAGCTGGCTCATGCCCCAGGGCTCCTTTACAGGTGGGATCCTGTGCTTCCTGCCTGGGTGGCAGGAGATCAAAGGAGTGCAGCAGCGCCTCCAGGAGGCCCTGGGCATGCACGAGAGCAAGTACCTCATCCTGCCAGGTGAGAGCCCCGGCGGAGGGACCAGGGACCTTTGGAAACCAGCCTGACCTCTGTCCTAGGGACTGACCCAACTGGGACTCCAGGGGCCCCGGTTTCTGACCAAGCTGTGGCACTTTTCACTGGGCATAGTGTTTATCTGCGCCTGTTTCATCAAAATGGGGTCAAAATCCTTGCCCTGCCCACATTCCAGGGGGGAATTCTGGTGGAAGCAGTGCCCATAACTGGTGTGTGTCTTGCCCACCAGTGCACTCCAACATCCCCATGATGGATCAGAAGGCCATATTCCAGCAGCCTCCAGTTGGGGTGCGCAAGATTGTCTTGGCCACCAACATTGCTGAGACTTCCATCACAATCAATGACATCGTGCATGTGGTGGACAGTGGGCTGCACAAGGAAGAACGCTATGACCTGAAGACCAAGGTGGCACCTACCTCCTGGGCCCGGCCAACCACTGGGGGAGGGACTCCGTTTTGAGGTGGTCCCCAGCCCAGATCTACCTTAGACCTGCTTTGTGTGTCTTCAGAAGGCCGCGCTTGTGGGGTCTCAGTGTTCCTGATGTAGGGGGCTGGTGAGGGTTACTCAGGGAGTGGGGAAGCACTGAGGAAGTGGCATTTGTGTGCTGCTTACTTGCCACCTCCTCCAGGTGTCCTGCCTGGAGACAGTGTGGGTATCAAGAGCCAATGTGATCCAGCGCCGGGACCGGGCGGGCCGCTGCCAGTCCGGCTTTGCCTACCACTTGTTCCCTCGAAGCCGGCTGGAGAAAATGGTCCCTTTCCAAGTGCCAGAGATCCTGCGCACACCTCTTGAGAACCTGGTGCTGCAAGCGAAAATCCACATGCCTGAGAAGACGGTGCGGCGGGGCGGGGCAGGGGCTGGCCTGGGGACCAGGCAGGTGGGAGGCAGGCTCATGGCGGGCTCTGGCTCTGTCATAGGCGGTGGAGTTCCTGTCCAAGGCTGTGGACAGTCCAAACATCAAGGCAGTGGACGAGGCTGTGATCTTGCTCCAGGAGATCGGTATGTAGGGGCTGGGCTGGGCTGGGCTGGGGAGTGGCTCTCGAGGGTGGTACTGACAGCTGAGCCGTTGCAGGGGTGCTGGACCAGCGGGAGTACCTGACTACCCTGGGGCAGCGCCTGGCTCACATCTCCACCGACCCCCGGTTGGCCAAGGCCATTGTGTTGGCTGCCATCTTCCGTTGCCTGCACCCACTACTGGTGGTCGTTTCCTGCCTCACCCGGGACCCCTTCAGCAGCAGCCTACAGAACCGGGCAGAGGTGGACAAGGTCAGTCCTGGCTCCTTCCTGGAGCCGTCCACCCACTGCTGTTCTGAGGGGGCGTTGTCTAGCCCCTGCCTGTGATCCGGCTGCCCTCTTCTCCCCTCCCAGGTGAAAGCACTGTTGAGCCATGACAGCGGCAGTGACCACCTGGCCTTTGTGCGGGCTGTCGCCGGCTGGGAGGAGGTGCTGCGTTGGCAGGACCGCAGCTCCCGGGAGAATTACCTGGAGGAAAACCTGCTGTACGCACCCAGCCTGCGCTTCATCCACGGTCAGTCGGGCCCACACCTGCTCTCCTGAGCCCCTCCCACCCCCACTGAGTTTCTGTCACCTCCAGCCTGTGGCTAGGGGCTGTAGGTCCACCACACATTCTGTCTCCCTAGGACTCATCAAGCAGTTCTCAGAGAACATTTATGAGGCCTTCCTGGTGGGGAAGCCCTCGGACTGCACCCTGGCCTCCGCCCAGTGCAACGAGTACAGTGAGGAGGAGGAGCTGGTGAAGGGCGTGCTGATGGCCGGCCTCTACCCCAACCTCATCCAGGTGCTGCCTCTGGGAGGGAATGGAGTTCACCAGGTCCCAGCCTCCTTCCCTGTCTGCAGCTCCTTGCTCAGCCCCACCCGTCTTTTCCTCCATCCCTGCAGGTGAGGCAGGGCAAGGTCACCCGGCAGGGGAAGTTCAAGCCCAACAGCGTCACATATAGGACCAAATCAGGCAACATCCTGCTGCACAAGTCGACCATTAACAGGTGAGGGCATGCAGGCCTGGATGGGGCAGCTGGGATGGTCCAAAAGGGTGGCCTCACCAGCCCTGTGTTCCCTAGGGAGGCCACACGGTTACGGAGCCGATGGCTGACGTATTTCATGGCAGTCAAGTCCAATGGCAGCGTCTTCGTCCGGGACTCCTCTCAGGTGCACCCGCTAGCTGTGCTGCTGCTGACCGACGGGGACGTGCACATCCGTGGTGGGTGCCTGCAGGCCTCCCGCCCACCCCGCTCTGCAGCTGCTCCTCCGGGGCCTGGCCTCACCACAGTTCCCCACCATCTTTTCCATTCCCTCAGATGACGGGCGCCGGGCCACCATCTCACTGAGCGACAGTGACCTGCTGCGGCTGGAGGGTGACTCGCGTACCGTGCGGCTGCTGAAGGAGCTGCGGCGGGCCCTGGGCCGCATGGTGGAGCGGAGCCTGCGCAGCGAGCTGGCTGCACTTCCCCCCAGCGTACAGGAGGAGCACGGGCAGCTGCTTGCGCTACTGGCAGAGCTGCTGCGAGGACCCTGTGGCAGCTTTGATGTGCGCAAGACAGCTGACGACTGAGCCCTGCTTCTGCTGGGGCTGTGTACAGAGTGCAAATGTTTATTTAAAATAAAGTTCTATTTATCCCTTGTGACCACTGCTGTCCACTAGGGGCTCCTCTCTCAGGGCCTCCATACACTGGGCCACGGTTCCCCAAAGAGGAAGGAGGAAGGTAGGTAGAGA
Task1_train_6742
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?
Pathogenic; Neurodevelopmental disorder with severe motor impairment and absent language
GCCCCAGAACTCCGGCTGCAGAGTGATGACATCTTGCCCTTGGGCAAGGACTCAGGGCCTCTGAGTGACCCTATCACAGGCAAGCCCTATGTGCCCCTGTTGGAAGCAGAGGAGGTACGTCTCAGCCAGAGTCTGCTAGAACTGTGGCGGCGGCGAGGGCCGGTCTGGCAGGAGGCCCCCCAGCTACCTGTGGACCCACATCGGGACACCATCCTCAACGCCATTGAGCAGCACCCGGTGGTGGTCATCTCTGGGGACACGGGCTGTGGGAAGACCACGCGCATCCCCCAGCTGTTGCTGGAGCGCTATGTGACCGAGGGCCGAGGTGCCCGCTGCAATGTTATCATCACCCAACCTCGCCGCATCTCTGCTGTGTCTGTGGCACAGCGGGTCAGCCACGAACTGGGCCCCTCCCTGCGCCGGAATGTGGGCTTCCAGGTGCGGTTGGAAAGTAAGCCCCCATCCCGAGGCGGGGCCCTGCTCTTCTGCACTGTGGGTATCCTGCTGCGTAAGCTGCAGAGCAACCCCAGCCTGGAGGGCGTGAGCCACGTCATCGTGGATGAGGTGCATGAGCGGGACGTGAACACAGACTTTCTGCTGATCCTGCTCAAGGGCCTGCAGCGGCTCAACCCGGCCCTGCGGCTGGTGCTCATGAGTGCCACAGGGGACAATGAGCGCTTCTCCCGATACTTTGGTGGCTGCCCCGTCATCAAGGTGCCTGGCTTCATGTACCCAGTCAAGGAGCACTACCTAGAGGACATCCTGGCCAAGTTGGGCAAGCACCAGTACCTGCACCGGCACCGGCACCATGAGGTGAGGGACACCCCCATCCCACCCAAGGCTCCTGGCCTTTCCTCCGTGGATGCCCCTCCTCCCTGGCCCTGGGGCTTGGTGCCTGGGGCAAGTTACCCTCCCCAGTCCTCGGTTTCCTTGATAGAAACTGGGGACTAACCCTGCCTGCGTGGCACACGTGAGGATTGGAGTTGATGTCAAGCGGCTCCGTCTCACTGAGTCAGGTGGCTGTGTCCTTGGCATGACCCCTTACCCCGGGGCTGTGACTGTGGCCTCTCTTCCCCCACCCCAGTCTGAGGATGAATGCGCACTCGATTTGGACCTTGTGACTGATCTGGTTCTGCACATCGATGCTCGCGGGGAACCAGGTGGGTGCCTCCCCATCTGTCCCATGCTAGCCCTGGCCACGTTTGCAGCAACAGCTGGCTCATGCCCCAGGGCTCCTTTACAGGTGGGATCCTGTGCTTCCTGCCTGGGTGGCAGGAGATCAAAGGAGTGCAGCAGCGCCTCCAGGAGGCCCTGGGCATGCACGAGAGCAAGTACCTCATCCTGCCAGGTGAGAGCCCCGGCGGAGGGACCAGGGACCTTTGGAAACCAGCCTGACCTCTGTCCTAGGGACTGACCCAACTGGGACTCCAGGGGCCCCGGTTTCTGACCAAGCTGTGGCACTTTTCACTGGGCATAGTGTTTATCTGCGCCTGTTTCATCAAAATGGGGTCAAAATCCTTGCCCTGCCCACATTCCAGGGGGGAATTCTGGTGGAAGCAGTGCCCATAACTGGTGTGTGTCTTGCCCACCAGTGCACTCCAACATCCCCATGATGGATCAGAAGGCCATATTCCAGCAGCCTCCAGTTGGGGTGCGCAAGATTGTCTTGGCCACCAACATTGCTGAGACTTCCATCACAATCAATGACATCGTGCATGTGGTGGACAGTGGGCTGCACAAGGAAGAACGCTATGACCTGAAGACCAAGGTGGCACCTACCTCCTGGGCCCGGCCAACCACTGGGGGAGGGACTCCGTTTTGAGGTGGTCCCCAGCCCAGATCTACCTTAGACCTGCTTTGTGTGTCTTCAGAAGGCCGCGCTTGTGGGGTCTCAGTGTTCCTGATGTAGGGGGCTGGTGAGGGTTACTCAGGGAGTGGGGAAGCACTGAGGAAGTGGCATTTGTGTGCTGCTTACTTGCCACCTCCTCCAGGTGTCCTGCCTGGAGACAGTGTGGGTATCAAGAGCCAATGTGATCCAGCGCCGGGGCCGGGCGGGCCGCTGCCAGTCCGGCTTTGCCTACCACTTGTTCCCTCGAAGCCGGCTGGAGAAAATGGTCCCTTTCCAAGTGCCAGAGATCCTGCGCACACCTCTTGAGAACCTGGTGCTGCAAGCGAAAATCCACATGCCTGAGAAGACGGTGCGGCGGGGCGGGGCAGGGGCTGGCCTGGGGACCAGGCAGGTGGGAGGCAGGCTCATGGCGGGCTCTGGCTCTGTCATAGGCGGTGGAGTTCCTGTCCAAGGCTGTGGACAGTCCAAACATCAAGGCAGTGGACGAGGCTGTGATCTTGCTCCAGGAGATCGGTATGTAGGGGCTGGGCTGGGCTGGGCTGGGGAGTGGCTCTCGAGGGTGGTACTGACAGCTGAGCCGTTGCAGGGGTGCTGGACCAGCGGGAGTACCTGACTACCCTGGGGCAGCGCCTGGCTCACATCTCCACCGACCCCCGGTTGGCCAAGGCCATTGTGTTGGCTGCCATCTTCCGTTGCCTGCACCCACTACTGGTGGTCGTTTCCTGCCTCACCCGGGACCCCTTCAGCAGCAGCCTACAGAACCGGGCAGAGGTGGACAAGGTCAGTCCTGGCTCCTTCCTGGAGCCGTCCACCCACTGCTGTTCTGAGGGGGCGTTGTCTAGCCCCTGCCTGTGATCCGGCTGCCCTCTTCTCCCCTCCCAGGTGAAAGCACTGTTGAGCCATGACAGCGGCAGTGACCACCTGGCCTTTGTGCGGGCTGTCGCCGGCTGGGAGGAGGTGCTGCGTTGGCAGGACCGCAGCTCCCGGGAGAATTACCTGGAGGAAAACCTGCTGTACGCACCCAGCCTGCGCTTCATCCACGGTCAGTCGGGCCCACACCTGCTCTCCTGAGCCCCTCCCACCCCCACTGAGTTTCTGTCACCTCCAGCCTGTGGCTAGGGGCTGTAGGTCCACCACACATTCTGTCTCCCTAGGACTCATCAAGCAGTTCTCAGAGAACATTTATGAGGCCTTCCTGGTGGGGAAGCCCTCGGACTGCACCCTGGCCTCCGCCCAGTGCAACGAGTACAGTGAGGAGGAGGAGCTGGTGAAGGGCGTGCTGATGGCCGGCCTCTACCCCAACCTCATCCAGGTGCTGCCTCTGGGAGGGAATGGAGTTCACCAGGTCCCAGCCTCCTTCCCTGTCTGCAGCTCCTTGCTCAGCCCCACCCGTCTTTTCCTCCATCCCTGCAGGTGAGGCAGGGCAAGGTCACCCGGCAGGGGAAGTTCAAGCCCAACAGCGTCACATATAGGACCAAATCAGGCAACATCCTGCTGCACAAGTCGACCATTAACAGGTGAGGGCATGCAGGCCTGGATGGGGCAGCTGGGATGGTCCAAAAGGGTGGCCTCACCAGCCCTGTGTTCCCTAGGGAGGCCACACGGTTACGGAGCCGATGGCTGACGTATTTCATGGCAGTCAAGTCCAATGGCAGCGTCTTCGTCCGGGACTCCTCTCAGGTGCACCCGCTAGCTGTGCTGCTGCTGACCGACGGGGACGTGCACATCCGTGGTGGGTGCCTGCAGGCCTCCCGCCCACCCCGCTCTGCAGCTGCTCCTCCGGGGCCTGGCCTCACCACAGTTCCCCACCATCTTTTCCATTCCCTCAGATGACGGGCGCCGGGCCACCATCTCACTGAGCGACAGTGACCTGCTGCGGCTGGAGGGTGACTCGCGTACCGTGCGGCTGCTGAAGGAGCTGCGGCGGGCCCTGGGCCGCATGGTGGAGCGGAGCCTGCGCAGCGAGCTGGCTGCACTTCCCCCCAGCGTACAGGAGGAGCACGGGCAGCTGCTTGCGCTACTGGCAGAGCTGCTGCGAGGACCCTGTGGCAGCTTTGATGTGCGCAAGACAGCTGACGACTGAGCCCTGCTTCTGCTGGGGCTGTGTACAGAGTGCAAATGTTTATTTAAAATAAAGTTCTATTTATCCCTTGTGACCACTGCTGTCCACTAGGGGCTCCTCTCTCAGGGCCTCCATACACTGGGCCACGGTTCCCCAAAGAGGAAGGAGGAAGGTAGGTAGAGAAG
GCCCCAGAACTCCGGCTGCAGAGTGATGACATCTTGCCCTTGGGCAAGGACTCAGGGCCTCTGAGTGACCCTATCACAGGCAAGCCCTATGTGCCCCTGTTGGAAGCAGAGGAGGTACGTCTCAGCCAGAGTCTGCTAGAACTGTGGCGGCGGCGAGGGCCGGTCTGGCAGGAGGCCCCCCAGCTACCTGTGGACCCACATCGGGACACCATCCTCAACGCCATTGAGCAGCACCCGGTGGTGGTCATCTCTGGGGACACGGGCTGTGGGAAGACCACGCGCATCCCCCAGCTGTTGCTGGAGCGCTATGTGACCGAGGGCCGAGGTGCCCGCTGCAATGTTATCATCACCCAACCTCGCCGCATCTCTGCTGTGTCTGTGGCACAGCGGGTCAGCCACGAACTGGGCCCCTCCCTGCGCCGGAATGTGGGCTTCCAGGTGCGGTTGGAAAGTAAGCCCCCATCCCGAGGCGGGGCCCTGCTCTTCTGCACTGTGGGTATCCTGCTGCGTAAGCTGCAGAGCAACCCCAGCCTGGAGGGCGTGAGCCACGTCATCGTGGATGAGGTGCATGAGCGGGACGTGAACACAGACTTTCTGCTGATCCTGCTCAAGGGCCTGCAGCGGCTCAACCCGGCCCTGCGGCTGGTGCTCATGAGTGCCACAGGGGACAATGAGCGCTTCTCCCGATACTTTGGTGGCTGCCCCGTCATCAAGGTGCCTGGCTTCATGTACCCAGTCAAGGAGCACTACCTAGAGGACATCCTGGCCAAGTTGGGCAAGCACCAGTACCTGCACCGGCACCGGCACCATGAGGTGAGGGACACCCCCATCCCACCCAAGGCTCCTGGCCTTTCCTCCGTGGATGCCCCTCCTCCCTGGCCCTGGGGCTTGGTGCCTGGGGCAAGTTACCCTCCCCAGTCCTCGGTTTCCTTGATAGAAACTGGGGACTAACCCTGCCTGCGTGGCACACGTGAGGATTGGAGTTGATGTCAAGCGGCTCCGTCTCACTGAGTCAGGTGGCTGTGTCCTTGGCATGACCCCTTACCCCGGGGCTGTGACTGTGGCCTCTCTTCCCCCACCCCAGTCTGAGGATGAATGCGCACTCGATTTGGACCTTGTGACTGATCTGGTTCTGCACATCGATGCTCGCGGGGAACCAGGTGGGTGCCTCCCCATCTGTCCCATGCTAGCCCTGGCCACGTTTGCAGCAACAGCTGGCTCATGCCCCAGGGCTCCTTTACAGGTGGGATCCTGTGCTTCCTGCCTGGGTGGCAGGAGATCAAAGGAGTGCAGCAGCGCCTCCAGGAGGCCCTGGGCATGCACGAGAGCAAGTACCTCATCCTGCCAGGTGAGAGCCCCGGCGGAGGGACCAGGGACCTTTGGAAACCAGCCTGACCTCTGTCCTAGGGACTGACCCAACTGGGACTCCAGGGGCCCCGGTTTCTGACCAAGCTGTGGCACTTTTCACTGGGCATAGTGTTTATCTGCGCCTGTTTCATCAAAATGGGGTCAAAATCCTTGCCCTGCCCACATTCCAGGGGGGAATTCTGGTGGAAGCAGTGCCCATAACTGGTGTGTGTCTTGCCCACCAGTGCACTCCAACATCCCCATGATGGATCAGAAGGCCATATTCCAGCAGCCTCCAGTTGGGGTGCGCAAGATTGTCTTGGCCACCAACATTGCTGAGACTTCCATCACAATCAATGACATCGTGCATGTGGTGGACAGTGGGCTGCACAAGGAAGAACGCTATGACCTGAAGACCAAGGTGGCACCTACCTCCTGGGCCCGGCCAACCACTGGGGGAGGGACTCCGTTTTGAGGTGGTCCCCAGCCCAGATCTACCTTAGACCTGCTTTGTGTGTCTTCAGAAGGCCGCGCTTGTGGGGTCTCAGTGTTCCTGATGTAGGGGGCTGGTGAGGGTTACTCAGGGAGTGGGGAAGCACTGAGGAAGTGGCATTTGTGTGCTGCTTACTTGCCACCTCCTCCAGGTGTCCTGCCTGGAGACAGTGTGGGTATCAAGAGCCAATGTGATCCAGCGCCGGGGCTGGGCGGGCCGCTGCCAGTCCGGCTTTGCCTACCACTTGTTCCCTCGAAGCCGGCTGGAGAAAATGGTCCCTTTCCAAGTGCCAGAGATCCTGCGCACACCTCTTGAGAACCTGGTGCTGCAAGCGAAAATCCACATGCCTGAGAAGACGGTGCGGCGGGGCGGGGCAGGGGCTGGCCTGGGGACCAGGCAGGTGGGAGGCAGGCTCATGGCGGGCTCTGGCTCTGTCATAGGCGGTGGAGTTCCTGTCCAAGGCTGTGGACAGTCCAAACATCAAGGCAGTGGACGAGGCTGTGATCTTGCTCCAGGAGATCGGTATGTAGGGGCTGGGCTGGGCTGGGCTGGGGAGTGGCTCTCGAGGGTGGTACTGACAGCTGAGCCGTTGCAGGGGTGCTGGACCAGCGGGAGTACCTGACTACCCTGGGGCAGCGCCTGGCTCACATCTCCACCGACCCCCGGTTGGCCAAGGCCATTGTGTTGGCTGCCATCTTCCGTTGCCTGCACCCACTACTGGTGGTCGTTTCCTGCCTCACCCGGGACCCCTTCAGCAGCAGCCTACAGAACCGGGCAGAGGTGGACAAGGTCAGTCCTGGCTCCTTCCTGGAGCCGTCCACCCACTGCTGTTCTGAGGGGGCGTTGTCTAGCCCCTGCCTGTGATCCGGCTGCCCTCTTCTCCCCTCCCAGGTGAAAGCACTGTTGAGCCATGACAGCGGCAGTGACCACCTGGCCTTTGTGCGGGCTGTCGCCGGCTGGGAGGAGGTGCTGCGTTGGCAGGACCGCAGCTCCCGGGAGAATTACCTGGAGGAAAACCTGCTGTACGCACCCAGCCTGCGCTTCATCCACGGTCAGTCGGGCCCACACCTGCTCTCCTGAGCCCCTCCCACCCCCACTGAGTTTCTGTCACCTCCAGCCTGTGGCTAGGGGCTGTAGGTCCACCACACATTCTGTCTCCCTAGGACTCATCAAGCAGTTCTCAGAGAACATTTATGAGGCCTTCCTGGTGGGGAAGCCCTCGGACTGCACCCTGGCCTCCGCCCAGTGCAACGAGTACAGTGAGGAGGAGGAGCTGGTGAAGGGCGTGCTGATGGCCGGCCTCTACCCCAACCTCATCCAGGTGCTGCCTCTGGGAGGGAATGGAGTTCACCAGGTCCCAGCCTCCTTCCCTGTCTGCAGCTCCTTGCTCAGCCCCACCCGTCTTTTCCTCCATCCCTGCAGGTGAGGCAGGGCAAGGTCACCCGGCAGGGGAAGTTCAAGCCCAACAGCGTCACATATAGGACCAAATCAGGCAACATCCTGCTGCACAAGTCGACCATTAACAGGTGAGGGCATGCAGGCCTGGATGGGGCAGCTGGGATGGTCCAAAAGGGTGGCCTCACCAGCCCTGTGTTCCCTAGGGAGGCCACACGGTTACGGAGCCGATGGCTGACGTATTTCATGGCAGTCAAGTCCAATGGCAGCGTCTTCGTCCGGGACTCCTCTCAGGTGCACCCGCTAGCTGTGCTGCTGCTGACCGACGGGGACGTGCACATCCGTGGTGGGTGCCTGCAGGCCTCCCGCCCACCCCGCTCTGCAGCTGCTCCTCCGGGGCCTGGCCTCACCACAGTTCCCCACCATCTTTTCCATTCCCTCAGATGACGGGCGCCGGGCCACCATCTCACTGAGCGACAGTGACCTGCTGCGGCTGGAGGGTGACTCGCGTACCGTGCGGCTGCTGAAGGAGCTGCGGCGGGCCCTGGGCCGCATGGTGGAGCGGAGCCTGCGCAGCGAGCTGGCTGCACTTCCCCCCAGCGTACAGGAGGAGCACGGGCAGCTGCTTGCGCTACTGGCAGAGCTGCTGCGAGGACCCTGTGGCAGCTTTGATGTGCGCAAGACAGCTGACGACTGAGCCCTGCTTCTGCTGGGGCTGTGTACAGAGTGCAAATGTTTATTTAAAATAAAGTTCTATTTATCCCTTGTGACCACTGCTGTCCACTAGGGGCTCCTCTCTCAGGGCCTCCATACACTGGGCCACGGTTCCCCAAAGAGGAAGGAGGAAGGTAGGTAGAGAAG
Task1_train_6743
This is a variant in DHX30 (DExH-box helicase 30), located on Chromosome 3. Is this mutation a likely cause of disease or not?
Pathogenic; Neurodevelopmental disorder with severe motor impairment and absent language
CCCCAGAACTCCGGCTGCAGAGTGATGACATCTTGCCCTTGGGCAAGGACTCAGGGCCTCTGAGTGACCCTATCACAGGCAAGCCCTATGTGCCCCTGTTGGAAGCAGAGGAGGTACGTCTCAGCCAGAGTCTGCTAGAACTGTGGCGGCGGCGAGGGCCGGTCTGGCAGGAGGCCCCCCAGCTACCTGTGGACCCACATCGGGACACCATCCTCAACGCCATTGAGCAGCACCCGGTGGTGGTCATCTCTGGGGACACGGGCTGTGGGAAGACCACGCGCATCCCCCAGCTGTTGCTGGAGCGCTATGTGACCGAGGGCCGAGGTGCCCGCTGCAATGTTATCATCACCCAACCTCGCCGCATCTCTGCTGTGTCTGTGGCACAGCGGGTCAGCCACGAACTGGGCCCCTCCCTGCGCCGGAATGTGGGCTTCCAGGTGCGGTTGGAAAGTAAGCCCCCATCCCGAGGCGGGGCCCTGCTCTTCTGCACTGTGGGTATCCTGCTGCGTAAGCTGCAGAGCAACCCCAGCCTGGAGGGCGTGAGCCACGTCATCGTGGATGAGGTGCATGAGCGGGACGTGAACACAGACTTTCTGCTGATCCTGCTCAAGGGCCTGCAGCGGCTCAACCCGGCCCTGCGGCTGGTGCTCATGAGTGCCACAGGGGACAATGAGCGCTTCTCCCGATACTTTGGTGGCTGCCCCGTCATCAAGGTGCCTGGCTTCATGTACCCAGTCAAGGAGCACTACCTAGAGGACATCCTGGCCAAGTTGGGCAAGCACCAGTACCTGCACCGGCACCGGCACCATGAGGTGAGGGACACCCCCATCCCACCCAAGGCTCCTGGCCTTTCCTCCGTGGATGCCCCTCCTCCCTGGCCCTGGGGCTTGGTGCCTGGGGCAAGTTACCCTCCCCAGTCCTCGGTTTCCTTGATAGAAACTGGGGACTAACCCTGCCTGCGTGGCACACGTGAGGATTGGAGTTGATGTCAAGCGGCTCCGTCTCACTGAGTCAGGTGGCTGTGTCCTTGGCATGACCCCTTACCCCGGGGCTGTGACTGTGGCCTCTCTTCCCCCACCCCAGTCTGAGGATGAATGCGCACTCGATTTGGACCTTGTGACTGATCTGGTTCTGCACATCGATGCTCGCGGGGAACCAGGTGGGTGCCTCCCCATCTGTCCCATGCTAGCCCTGGCCACGTTTGCAGCAACAGCTGGCTCATGCCCCAGGGCTCCTTTACAGGTGGGATCCTGTGCTTCCTGCCTGGGTGGCAGGAGATCAAAGGAGTGCAGCAGCGCCTCCAGGAGGCCCTGGGCATGCACGAGAGCAAGTACCTCATCCTGCCAGGTGAGAGCCCCGGCGGAGGGACCAGGGACCTTTGGAAACCAGCCTGACCTCTGTCCTAGGGACTGACCCAACTGGGACTCCAGGGGCCCCGGTTTCTGACCAAGCTGTGGCACTTTTCACTGGGCATAGTGTTTATCTGCGCCTGTTTCATCAAAATGGGGTCAAAATCCTTGCCCTGCCCACATTCCAGGGGGGAATTCTGGTGGAAGCAGTGCCCATAACTGGTGTGTGTCTTGCCCACCAGTGCACTCCAACATCCCCATGATGGATCAGAAGGCCATATTCCAGCAGCCTCCAGTTGGGGTGCGCAAGATTGTCTTGGCCACCAACATTGCTGAGACTTCCATCACAATCAATGACATCGTGCATGTGGTGGACAGTGGGCTGCACAAGGAAGAACGCTATGACCTGAAGACCAAGGTGGCACCTACCTCCTGGGCCCGGCCAACCACTGGGGGAGGGACTCCGTTTTGAGGTGGTCCCCAGCCCAGATCTACCTTAGACCTGCTTTGTGTGTCTTCAGAAGGCCGCGCTTGTGGGGTCTCAGTGTTCCTGATGTAGGGGGCTGGTGAGGGTTACTCAGGGAGTGGGGAAGCACTGAGGAAGTGGCATTTGTGTGCTGCTTACTTGCCACCTCCTCCAGGTGTCCTGCCTGGAGACAGTGTGGGTATCAAGAGCCAATGTGATCCAGCGCCGGGGCCGGGCGGGCCGCTGCCAGTCCGGCTTTGCCTACCACTTGTTCCCTCGAAGCCGGCTGGAGAAAATGGTCCCTTTCCAAGTGCCAGAGATCCTGCGCACACCTCTTGAGAACCTGGTGCTGCAAGCGAAAATCCACATGCCTGAGAAGACGGTGCGGCGGGGCGGGGCAGGGGCTGGCCTGGGGACCAGGCAGGTGGGAGGCAGGCTCATGGCGGGCTCTGGCTCTGTCATAGGCGGTGGAGTTCCTGTCCAAGGCTGTGGACAGTCCAAACATCAAGGCAGTGGACGAGGCTGTGATCTTGCTCCAGGAGATCGGTATGTAGGGGCTGGGCTGGGCTGGGCTGGGGAGTGGCTCTCGAGGGTGGTACTGACAGCTGAGCCGTTGCAGGGGTGCTGGACCAGCGGGAGTACCTGACTACCCTGGGGCAGCGCCTGGCTCACATCTCCACCGACCCCCGGTTGGCCAAGGCCATTGTGTTGGCTGCCATCTTCCGTTGCCTGCACCCACTACTGGTGGTCGTTTCCTGCCTCACCCGGGACCCCTTCAGCAGCAGCCTACAGAACCGGGCAGAGGTGGACAAGGTCAGTCCTGGCTCCTTCCTGGAGCCGTCCACCCACTGCTGTTCTGAGGGGGCGTTGTCTAGCCCCTGCCTGTGATCCGGCTGCCCTCTTCTCCCCTCCCAGGTGAAAGCACTGTTGAGCCATGACAGCGGCAGTGACCACCTGGCCTTTGTGCGGGCTGTCGCCGGCTGGGAGGAGGTGCTGCGTTGGCAGGACCGCAGCTCCCGGGAGAATTACCTGGAGGAAAACCTGCTGTACGCACCCAGCCTGCGCTTCATCCACGGTCAGTCGGGCCCACACCTGCTCTCCTGAGCCCCTCCCACCCCCACTGAGTTTCTGTCACCTCCAGCCTGTGGCTAGGGGCTGTAGGTCCACCACACATTCTGTCTCCCTAGGACTCATCAAGCAGTTCTCAGAGAACATTTATGAGGCCTTCCTGGTGGGGAAGCCCTCGGACTGCACCCTGGCCTCCGCCCAGTGCAACGAGTACAGTGAGGAGGAGGAGCTGGTGAAGGGCGTGCTGATGGCCGGCCTCTACCCCAACCTCATCCAGGTGCTGCCTCTGGGAGGGAATGGAGTTCACCAGGTCCCAGCCTCCTTCCCTGTCTGCAGCTCCTTGCTCAGCCCCACCCGTCTTTTCCTCCATCCCTGCAGGTGAGGCAGGGCAAGGTCACCCGGCAGGGGAAGTTCAAGCCCAACAGCGTCACATATAGGACCAAATCAGGCAACATCCTGCTGCACAAGTCGACCATTAACAGGTGAGGGCATGCAGGCCTGGATGGGGCAGCTGGGATGGTCCAAAAGGGTGGCCTCACCAGCCCTGTGTTCCCTAGGGAGGCCACACGGTTACGGAGCCGATGGCTGACGTATTTCATGGCAGTCAAGTCCAATGGCAGCGTCTTCGTCCGGGACTCCTCTCAGGTGCACCCGCTAGCTGTGCTGCTGCTGACCGACGGGGACGTGCACATCCGTGGTGGGTGCCTGCAGGCCTCCCGCCCACCCCGCTCTGCAGCTGCTCCTCCGGGGCCTGGCCTCACCACAGTTCCCCACCATCTTTTCCATTCCCTCAGATGACGGGCGCCGGGCCACCATCTCACTGAGCGACAGTGACCTGCTGCGGCTGGAGGGTGACTCGCGTACCGTGCGGCTGCTGAAGGAGCTGCGGCGGGCCCTGGGCCGCATGGTGGAGCGGAGCCTGCGCAGCGAGCTGGCTGCACTTCCCCCCAGCGTACAGGAGGAGCACGGGCAGCTGCTTGCGCTACTGGCAGAGCTGCTGCGAGGACCCTGTGGCAGCTTTGATGTGCGCAAGACAGCTGACGACTGAGCCCTGCTTCTGCTGGGGCTGTGTACAGAGTGCAAATGTTTATTTAAAATAAAGTTCTATTTATCCCTTGTGACCACTGCTGTCCACTAGGGGCTCCTCTCTCAGGGCCTCCATACACTGGGCCACGGTTCCCCAAAGAGGAAGGAGGAAGGTAGGTAGAGAAGA
CCCCAGAACTCCGGCTGCAGAGTGATGACATCTTGCCCTTGGGCAAGGACTCAGGGCCTCTGAGTGACCCTATCACAGGCAAGCCCTATGTGCCCCTGTTGGAAGCAGAGGAGGTACGTCTCAGCCAGAGTCTGCTAGAACTGTGGCGGCGGCGAGGGCCGGTCTGGCAGGAGGCCCCCCAGCTACCTGTGGACCCACATCGGGACACCATCCTCAACGCCATTGAGCAGCACCCGGTGGTGGTCATCTCTGGGGACACGGGCTGTGGGAAGACCACGCGCATCCCCCAGCTGTTGCTGGAGCGCTATGTGACCGAGGGCCGAGGTGCCCGCTGCAATGTTATCATCACCCAACCTCGCCGCATCTCTGCTGTGTCTGTGGCACAGCGGGTCAGCCACGAACTGGGCCCCTCCCTGCGCCGGAATGTGGGCTTCCAGGTGCGGTTGGAAAGTAAGCCCCCATCCCGAGGCGGGGCCCTGCTCTTCTGCACTGTGGGTATCCTGCTGCGTAAGCTGCAGAGCAACCCCAGCCTGGAGGGCGTGAGCCACGTCATCGTGGATGAGGTGCATGAGCGGGACGTGAACACAGACTTTCTGCTGATCCTGCTCAAGGGCCTGCAGCGGCTCAACCCGGCCCTGCGGCTGGTGCTCATGAGTGCCACAGGGGACAATGAGCGCTTCTCCCGATACTTTGGTGGCTGCCCCGTCATCAAGGTGCCTGGCTTCATGTACCCAGTCAAGGAGCACTACCTAGAGGACATCCTGGCCAAGTTGGGCAAGCACCAGTACCTGCACCGGCACCGGCACCATGAGGTGAGGGACACCCCCATCCCACCCAAGGCTCCTGGCCTTTCCTCCGTGGATGCCCCTCCTCCCTGGCCCTGGGGCTTGGTGCCTGGGGCAAGTTACCCTCCCCAGTCCTCGGTTTCCTTGATAGAAACTGGGGACTAACCCTGCCTGCGTGGCACACGTGAGGATTGGAGTTGATGTCAAGCGGCTCCGTCTCACTGAGTCAGGTGGCTGTGTCCTTGGCATGACCCCTTACCCCGGGGCTGTGACTGTGGCCTCTCTTCCCCCACCCCAGTCTGAGGATGAATGCGCACTCGATTTGGACCTTGTGACTGATCTGGTTCTGCACATCGATGCTCGCGGGGAACCAGGTGGGTGCCTCCCCATCTGTCCCATGCTAGCCCTGGCCACGTTTGCAGCAACAGCTGGCTCATGCCCCAGGGCTCCTTTACAGGTGGGATCCTGTGCTTCCTGCCTGGGTGGCAGGAGATCAAAGGAGTGCAGCAGCGCCTCCAGGAGGCCCTGGGCATGCACGAGAGCAAGTACCTCATCCTGCCAGGTGAGAGCCCCGGCGGAGGGACCAGGGACCTTTGGAAACCAGCCTGACCTCTGTCCTAGGGACTGACCCAACTGGGACTCCAGGGGCCCCGGTTTCTGACCAAGCTGTGGCACTTTTCACTGGGCATAGTGTTTATCTGCGCCTGTTTCATCAAAATGGGGTCAAAATCCTTGCCCTGCCCACATTCCAGGGGGGAATTCTGGTGGAAGCAGTGCCCATAACTGGTGTGTGTCTTGCCCACCAGTGCACTCCAACATCCCCATGATGGATCAGAAGGCCATATTCCAGCAGCCTCCAGTTGGGGTGCGCAAGATTGTCTTGGCCACCAACATTGCTGAGACTTCCATCACAATCAATGACATCGTGCATGTGGTGGACAGTGGGCTGCACAAGGAAGAACGCTATGACCTGAAGACCAAGGTGGCACCTACCTCCTGGGCCCGGCCAACCACTGGGGGAGGGACTCCGTTTTGAGGTGGTCCCCAGCCCAGATCTACCTTAGACCTGCTTTGTGTGTCTTCAGAAGGCCGCGCTTGTGGGGTCTCAGTGTTCCTGATGTAGGGGGCTGGTGAGGGTTACTCAGGGAGTGGGGAAGCACTGAGGAAGTGGCATTTGTGTGCTGCTTACTTGCCACCTCCTCCAGGTGTCCTGCCTGGAGACAGTGTGGGTATCAAGAGCCAATGTGATCCAGCGCCGGGGCCAGGCGGGCCGCTGCCAGTCCGGCTTTGCCTACCACTTGTTCCCTCGAAGCCGGCTGGAGAAAATGGTCCCTTTCCAAGTGCCAGAGATCCTGCGCACACCTCTTGAGAACCTGGTGCTGCAAGCGAAAATCCACATGCCTGAGAAGACGGTGCGGCGGGGCGGGGCAGGGGCTGGCCTGGGGACCAGGCAGGTGGGAGGCAGGCTCATGGCGGGCTCTGGCTCTGTCATAGGCGGTGGAGTTCCTGTCCAAGGCTGTGGACAGTCCAAACATCAAGGCAGTGGACGAGGCTGTGATCTTGCTCCAGGAGATCGGTATGTAGGGGCTGGGCTGGGCTGGGCTGGGGAGTGGCTCTCGAGGGTGGTACTGACAGCTGAGCCGTTGCAGGGGTGCTGGACCAGCGGGAGTACCTGACTACCCTGGGGCAGCGCCTGGCTCACATCTCCACCGACCCCCGGTTGGCCAAGGCCATTGTGTTGGCTGCCATCTTCCGTTGCCTGCACCCACTACTGGTGGTCGTTTCCTGCCTCACCCGGGACCCCTTCAGCAGCAGCCTACAGAACCGGGCAGAGGTGGACAAGGTCAGTCCTGGCTCCTTCCTGGAGCCGTCCACCCACTGCTGTTCTGAGGGGGCGTTGTCTAGCCCCTGCCTGTGATCCGGCTGCCCTCTTCTCCCCTCCCAGGTGAAAGCACTGTTGAGCCATGACAGCGGCAGTGACCACCTGGCCTTTGTGCGGGCTGTCGCCGGCTGGGAGGAGGTGCTGCGTTGGCAGGACCGCAGCTCCCGGGAGAATTACCTGGAGGAAAACCTGCTGTACGCACCCAGCCTGCGCTTCATCCACGGTCAGTCGGGCCCACACCTGCTCTCCTGAGCCCCTCCCACCCCCACTGAGTTTCTGTCACCTCCAGCCTGTGGCTAGGGGCTGTAGGTCCACCACACATTCTGTCTCCCTAGGACTCATCAAGCAGTTCTCAGAGAACATTTATGAGGCCTTCCTGGTGGGGAAGCCCTCGGACTGCACCCTGGCCTCCGCCCAGTGCAACGAGTACAGTGAGGAGGAGGAGCTGGTGAAGGGCGTGCTGATGGCCGGCCTCTACCCCAACCTCATCCAGGTGCTGCCTCTGGGAGGGAATGGAGTTCACCAGGTCCCAGCCTCCTTCCCTGTCTGCAGCTCCTTGCTCAGCCCCACCCGTCTTTTCCTCCATCCCTGCAGGTGAGGCAGGGCAAGGTCACCCGGCAGGGGAAGTTCAAGCCCAACAGCGTCACATATAGGACCAAATCAGGCAACATCCTGCTGCACAAGTCGACCATTAACAGGTGAGGGCATGCAGGCCTGGATGGGGCAGCTGGGATGGTCCAAAAGGGTGGCCTCACCAGCCCTGTGTTCCCTAGGGAGGCCACACGGTTACGGAGCCGATGGCTGACGTATTTCATGGCAGTCAAGTCCAATGGCAGCGTCTTCGTCCGGGACTCCTCTCAGGTGCACCCGCTAGCTGTGCTGCTGCTGACCGACGGGGACGTGCACATCCGTGGTGGGTGCCTGCAGGCCTCCCGCCCACCCCGCTCTGCAGCTGCTCCTCCGGGGCCTGGCCTCACCACAGTTCCCCACCATCTTTTCCATTCCCTCAGATGACGGGCGCCGGGCCACCATCTCACTGAGCGACAGTGACCTGCTGCGGCTGGAGGGTGACTCGCGTACCGTGCGGCTGCTGAAGGAGCTGCGGCGGGCCCTGGGCCGCATGGTGGAGCGGAGCCTGCGCAGCGAGCTGGCTGCACTTCCCCCCAGCGTACAGGAGGAGCACGGGCAGCTGCTTGCGCTACTGGCAGAGCTGCTGCGAGGACCCTGTGGCAGCTTTGATGTGCGCAAGACAGCTGACGACTGAGCCCTGCTTCTGCTGGGGCTGTGTACAGAGTGCAAATGTTTATTTAAAATAAAGTTCTATTTATCCCTTGTGACCACTGCTGTCCACTAGGGGCTCCTCTCTCAGGGCCTCCATACACTGGGCCACGGTTCCCCAAAGAGGAAGGAGGAAGGTAGGTAGAGAAGA
Task1_train_6744
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?
Pathogenic; Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
GGAGGTGAGTGGGTAGGGGCCAACAGCTGGCAGCTCTGGTGGTAAGGGGGCCCCGTGCAAGGACTGTAGGCCCCACTGCAAACCCCCTCACGTGAGGTGGCTAGGCTGAGCGGATTGTTAGGGTGCAGGCCATGGTGGCACCAGGCCTCAGTCTGCACCCCCCCTCTCTCAGGTGGTCAGAGCGCTCACGGTGATGTTGCACAGACAGTGGCTGACAGTGCGGAGGGCAGGGGGACCCCCAAGGACCGACCAGCAGAGGCGGACAGTGCGCTGTCTGCGGGACACGGTGCTGCTGCTGCACGGCCTATCGCAGAAGGACAAGCTCTTCATGATGCACTGCGTGGAGGTCCTGCATCAGTTTGACCAGGTGATGCCGGGGGTCAGCATGCTCATCCGAGGGCTTCCTGATGTGACGGACTGTGAAGGTAAGCCTGCCAGAGGCCATCCTGCCCAGCCCCCATGGCTTCTTCCAGAGGTTCCCCAACAAGTCAGATTCCTGGGTGTCCCCTCAGCAGGCCCCCGCCCACTGCAGCCTGTTCCAGCACTGGGGCCATTTTCTTTTATCTTCCTGCCTCAGTTCTTCTCCAAGCATATTGGGATGCCTTTTGCATCTATCTGTTGAGTGTGCCTGGCAGAGCCACGGTTTTTCCAGAAATAGCCGTGTCTGAATTGCCTTTGTATCACTTTGTTTGCAGTAGCTGAGGGAGCAGGGCCTGGGTGTGGAAGGGACTGGTTAGTTCCTGCGGACGTTGGGGGAGGAGAGGTGGGACCTGCCCTAGGCCCTGGCACCTTTGGGCCCTCACCAGGAACCTCTCCTTTTTGTCTCAGAGGCAGCCCTGGATGACCTCTGTGCCGCGGAAACCGATGTGGAAGACCCCGAGGTGGAGTGTGGCTGAGGCCCTGAGTGTCCAGCCACATGGTGGCACCAGCACCACTCCTTTCCTTACCACATCAACTGATTAAAGCAGTGACCAGCAGGAACTGCCCAGAGAACTGGCTGGCCTTGTTTCCTGAGTCTGATCTGTTTGGCGGAGTGGGAGGGGTGGAGCAGGACCCGGACCCTGAGTGGCTGGGATCCTTCTTCCTGTCCCTGGCTGTTGCTGAGCCCGTCCCCATGGTAACTGATCTGCCTTGAGGAAGGAGCCCTGCCCTGCCTGTGGAATTGTCCTGAGTCATTGCTTTGGGCTGGGGCCATGGGAAGAAACCATTGTGTGGCAGGGAAGGAGGTGGCTCTTGGCCCAGGCCTAAACCAGGAAAGCCTGGGAAACTGGGACCCACAGGTGGGCATGAAAGGGCCGCAGCAGGGGCTCCCAGCAGTGTGTAAGACCGGGAGCTGGTCTGGCACCACTGCCCTGGTCCTTCCAGCTGCCTGTCACTGGTATGATGGCCCCGGTGCATTGTGCCACCAGCAGGCCACAGCTGTGGATCTTGGAAGGCCTCTGGGGTCCCCCGGGAGCAGGGGAGTGGGTGTGGGGGGGAACGGATGGTGGTGAGAGGGACAGACCAGGCAGGCTGACGAGCAGGGCGGGCCTGGCTCACGTGGGCCTGTAGGCGGGCCCACGCCAAGTTTCACTTCCCGCCACTGCTGCCAGCGAGAGCCGCGGGAGAGTGTGCAGCCGAGTCACTACTGCCTGCCTGCCTGCCTGCTACGGTGAGTGTGGCCCCCACAATGGGATGGCGCAGGGCAGGAGGGCCATGGGTTCCCCCACCCCAGACTAAGGGGGCACTAGGGGAGGGGCCGAGTCATGTGAAGAGGGAGACCCTCTCAGACAGTCGAATGTGCTGGTCCCACTAAGGAAACCACCTCACCCTCTCCAACTTCCTGCCTGAAAATGGGCCCTGGAGCTCGCAGACAGGGCAGGATTGTGCAGGGAAGGCCTGAGATGTGCTTCTGCCCACCCCCTACCCCACTCCCTCCCCTTCGGATCTTAACACTGGGCACTCACACACCCACCCCATGCTCCTCTCCAGGCTCAGCAGCAGGTACGTACCCAACCATGGGCTCGCAGGCCCTGCCCCCGGGGCCCATGCAGACCCTCATCTTTTTCGACATGGAGGCCACTGGCTTGCCCTTCTCCCAGCCCAAGGTCACGGAGCTGTGCCTGCTGGCTGTCCACAGATGTGCCCTGGAGAGCCCCCCCACCTCTCAGGGGCCACCTCCCACAGTTCCTCCACCACCGCGTGTGGTAGACAAGCTCTCCCTGTGTGTGGCTCCGGGGAAGGCCTGCAGCCCTGCAGCCAGCGAGATCACAGGTCTGAGCACAGCTGTGCTGGCAGCGCATGGGCGTCAATGTTTTGATGACAACCTGGCCAACCTGCTCCTAGCCTTCCTGCGGCGCCAGCCACAGCCCTGGTGCCTGGTGGCACACAATGGTGACCGCTACGACTTCCCCCTGCTCCAAGCAGAGCTGGCTATGCTGGGCCTCACCAGTGCTCTGGATGGTGCCTTCTGTGTGGATAGCATCACTGCGCTGAAGGCCCTGGAGCGAGCAAGCAGCCCCTCAGAACACGGCCCAAGGAAGAGCTATAGCCTAGGCAGCATCTACACTCGCCTGTATGGGCAGTCCCCTCCAGACTCGCACACGGCTGAGGGTGATGTCCTGGCCCTGCTCAGCATCTGTCAGTGGAGACCACAGGCCCTGCTGCGGTGGGTGGATGCTCACGCCAGGCCTTTCGGCACCATCAGGCCCATGTATGGGGTCACAGCCTCTGCTAGGACCAAGCCAAGACCATCTGCTGTCACAACCACTGCACACCTGGCCACAACCAGGAACACTAGTCCCAGCCTTGGAGAGAGCAGGGGTACCAAGGATCTTCCTCCAGTGAAGGACCCTGGAGCCCTATCCAGGGAGGGGCTGCTGGCCCCACTGGGTCTGCTGGCCATCCTGACCTTGGCAGTAGCCACACTGTATGGACTATCCCTGGCCACACCTGGGGAGTAGGCCAAGAAGGAAAATCTGACGAATAAAGACCCCCGCTGCCCCATAGCACTGAGTGGTCAATTGGCTCCTACCCTTCTTGGCAGCACAGACCTCTGCCCACACCCAGGGACCTGGGGAGGAGGGCACAGTGTTTGTCCCTCACTTTCCCTAGCAGGATGGTCAACTATCTGAGCCCAGTAAAAGTAGGGAAAACACAGAGAAGCCCAAATGGATGGAAAGAGTACAGCCTGATTCCAATTCCAGCAGCCGAGGCCAGGAAGAAAGGGGGCAGCAGCTCCAAACGATTGCATTTATTATAAACAAGTGTACAGACCCTAGACTCAGAAACACAACAGATTTGAGCTAAGACAGCTCTGGTGAAACAGTAATAGAGGGAGGAGGAACACGAGGTATTCATGTCTGGGCCAGAGCTGCCATCCAGGGCCCCACACCCCACCTTTGGTCCAGATGGCCCATTGGCCCAGGTGTCCCTGCTGCCAGAACACCGTGGACTGGGGTACAGGAGTTGTTGCATATTCCATGAGGCTGGTGTCGGGAAGCAGGGACTCACAGTTGCCAGGTTGTCCATCTCTGAGCCAATTTCCCTCCACAACCCAGGGGTTTCAGTCTCATATCAACTATCATGTTTGAAACAGAAAACAGGCAAAATGTTTGGCTAAAATAAAATGAAAACACTGCAGGGAAGAGAACTGAGTGTGCTGGTGGACAGGAGCCCTGCTCACCTGTGGGAAGGGCAGGGCCAGCAAGGGCAGCAGAGCTCCCTGGGGGCAGCTAGGCTGTGTGTGCATGTGGCCCTCCAGCTGGTCCCAGGGGAGATGCGGGGACAGGGGACAGTCCAGGCAGACAGGTACAGCTGAGTAGGGCTCTGCCTGAGGTGTTCTGGCATCAGGAGGCTGCCTGATCCCCAACAGGCATGACAGGCTCCAGGGAGCAATGGGACATCTGCCCAAAGGATCAAAGTCCAACTTGGCCAGATCCCAAGCTTCGCCTGCATCATGTCCCTGGCTCTGCAACGGGTACCCCCAACTCCGGGGACGAGCCATGGCCTCAAGCAGCAGCTGGCTACGCTGCCGAAACCAGGACACATCTGCATCACACAGAAAGCTGCGCCACCCTGGTGTGACAGGCCCTACTTGGTCACCCTAGGGTAAGCT
GGAGGTGAGTGGGTAGGGGCCAACAGCTGGCAGCTCTGGTGGTAAGGGGGCCCCGTGCAAGGACTGTAGGCCCCACTGCAAACCCCCTCACGTGAGGTGGCTAGGCTGAGCGGATTGTTAGGGTGCAGGCCATGGTGGCACCAGGCCTCAGTCTGCACCCCCCCTCTCTCAGGTGGTCAGAGCGCTCACGGTGATGTTGCACAGACAGTGGCTGACAGTGCGGAGGGCAGGGGGACCCCCAAGGACCGACCAGCAGAGGCGGACAGTGCGCTGTCTGCGGGACACGGTGCTGCTGCTGCACGGCCTATCGCAGAAGGACAAGCTCTTCATGATGCACTGCGTGGAGGTCCTGCATCAGTTTGACCAGGTGATGCCGGGGGTCAGCATGCTCATCCGAGGGCTTCCTGATGTGACGGACTGTGAAGGTAAGCCTGCCAGAGGCCATCCTGCCCAGCCCCCATGGCTTCTTCCAGAGGTTCCCCAACAAGTCAGATTCCTGGGTGTCCCCTCAGCAGGCCCCCGCCCACTGCAGCCTGTTCCAGCACTGGGGCCATTTTCTTTTATCTTCCTGCCTCAGTTCTTCTCCAAGCATATTGGGATGCCTTTTGCATCTATCTGTTGAGTGTGCCTGGCAGAGCCACGGTTTTTCCAGAAATAGCCGTGTCTGAATTGCCTTTGTATCACTTTGTTTGCAGTAGCTGAGGGAGCAGGGCCTGGGTGTGGAAGGGACTGGTTAGTTCCTGCGGACGTTGGGGGAGGAGAGGTGGGACCTGCCCTAGGCCCTGGCACCTTTGGGCCCTCACCAGGAACCTCTCCTTTTTGTCTCAGAGGCAGCCCTGGATGACCTCTGTGCCGCGGAAACCGATGTGGAAGACCCCGAGGTGGAGTGTGGCTGAGGCCCTGAGTGTCCAGCCACATGGTGGCACCAGCACCACTCCTTTCCTTACCACATCAACTGATTAAAGCAGTGACCAGCAGGAACTGCCCAGAGAACTGGCTGGCCTTGTTTCCTGAGTCTGATCTGTTTGGCGGAGTGGGAGGGGTGGAGCAGGACCCGGACCCTGAGTGGCTGGGATCCTTCTTCCTGTCCCTGGCTGTTGCTGAGCCCGTCCCCATGGTAACTGATCTGCCTTGAGGAAGGAGCCCTGCCCTGCCTGTGGAATTGTCCTGAGTCATTGCTTTGGGCTGGGGCCATGGGAAGAAACCATTGTGTGGCAGGGAAGGAGGTGGCTCTTGGCCCAGGCCTAAACCAGGAAAGCCTGGGAAACTGGGACCCACAGGTGGGCATGAAAGGGCCGCAGCAGGGGCTCCCAGCAGTGTGTAAGACCGGGAGCTGGTCTGGCACCACTGCCCTGGTCCTTCCAGCTGCCTGTCACTGGTATGATGGCCCCGGTGCATTGTGCCACCAGCAGGCCACAGCTGTGGATCTTGGAAGGCCTCTGGGGTCCCCCGGGAGCAGGGGAGTGGGTGTGGGGGGGAACGGATGGTGGTGAGAGGGACAGACCAGGCAGGCTGACGAGCAGGGCGGGCCTGGCTCACGTGGGCCTGTAGGCGGGCCCACGCCAAGTTTCACTTCCCGCCACTGCTGCCAGCGAGAGCCGCGGGAGAGTGTGCAGCCGAGTCACTACTGCCTGCCTGCCTGCCTGCTACGGTGAGTGTGGCCCCCACAATGGGATGGCGCAGGGCAGGAGGGCCATGGGTTCCCCCACCCCAGACTAAGGGGGCACTAGGGGAGGGGCCGAGTCATGTGAAGAGGGAGACCCTCTCAGACAGTCGAATGTGCTGGTCCCACTAAGGAAACCACCTCACCCTCTCCAACTTCCTGCCTGAAAATGGGCCCTGGAGCTCGCAGACAGGGCAGGATTGTGCAGGGAAGGCCTGAGATGTGCTTCTGCCCACCCCCTACCCCACTCCCTCCCCTTCGGATCTTAACACTGGGCACTCACACACCCACCCCATGCTCCTCTCCAGGCTCAGCAGCAGGTACGTACCCAACCATGGGCTCGCAGGCCCTGCCCCCGGGGCCCATGCAGACCCTCATCTTTTTCAACATGGAGGCCACTGGCTTGCCCTTCTCCCAGCCCAAGGTCACGGAGCTGTGCCTGCTGGCTGTCCACAGATGTGCCCTGGAGAGCCCCCCCACCTCTCAGGGGCCACCTCCCACAGTTCCTCCACCACCGCGTGTGGTAGACAAGCTCTCCCTGTGTGTGGCTCCGGGGAAGGCCTGCAGCCCTGCAGCCAGCGAGATCACAGGTCTGAGCACAGCTGTGCTGGCAGCGCATGGGCGTCAATGTTTTGATGACAACCTGGCCAACCTGCTCCTAGCCTTCCTGCGGCGCCAGCCACAGCCCTGGTGCCTGGTGGCACACAATGGTGACCGCTACGACTTCCCCCTGCTCCAAGCAGAGCTGGCTATGCTGGGCCTCACCAGTGCTCTGGATGGTGCCTTCTGTGTGGATAGCATCACTGCGCTGAAGGCCCTGGAGCGAGCAAGCAGCCCCTCAGAACACGGCCCAAGGAAGAGCTATAGCCTAGGCAGCATCTACACTCGCCTGTATGGGCAGTCCCCTCCAGACTCGCACACGGCTGAGGGTGATGTCCTGGCCCTGCTCAGCATCTGTCAGTGGAGACCACAGGCCCTGCTGCGGTGGGTGGATGCTCACGCCAGGCCTTTCGGCACCATCAGGCCCATGTATGGGGTCACAGCCTCTGCTAGGACCAAGCCAAGACCATCTGCTGTCACAACCACTGCACACCTGGCCACAACCAGGAACACTAGTCCCAGCCTTGGAGAGAGCAGGGGTACCAAGGATCTTCCTCCAGTGAAGGACCCTGGAGCCCTATCCAGGGAGGGGCTGCTGGCCCCACTGGGTCTGCTGGCCATCCTGACCTTGGCAGTAGCCACACTGTATGGACTATCCCTGGCCACACCTGGGGAGTAGGCCAAGAAGGAAAATCTGACGAATAAAGACCCCCGCTGCCCCATAGCACTGAGTGGTCAATTGGCTCCTACCCTTCTTGGCAGCACAGACCTCTGCCCACACCCAGGGACCTGGGGAGGAGGGCACAGTGTTTGTCCCTCACTTTCCCTAGCAGGATGGTCAACTATCTGAGCCCAGTAAAAGTAGGGAAAACACAGAGAAGCCCAAATGGATGGAAAGAGTACAGCCTGATTCCAATTCCAGCAGCCGAGGCCAGGAAGAAAGGGGGCAGCAGCTCCAAACGATTGCATTTATTATAAACAAGTGTACAGACCCTAGACTCAGAAACACAACAGATTTGAGCTAAGACAGCTCTGGTGAAACAGTAATAGAGGGAGGAGGAACACGAGGTATTCATGTCTGGGCCAGAGCTGCCATCCAGGGCCCCACACCCCACCTTTGGTCCAGATGGCCCATTGGCCCAGGTGTCCCTGCTGCCAGAACACCGTGGACTGGGGTACAGGAGTTGTTGCATATTCCATGAGGCTGGTGTCGGGAAGCAGGGACTCACAGTTGCCAGGTTGTCCATCTCTGAGCCAATTTCCCTCCACAACCCAGGGGTTTCAGTCTCATATCAACTATCATGTTTGAAACAGAAAACAGGCAAAATGTTTGGCTAAAATAAAATGAAAACACTGCAGGGAAGAGAACTGAGTGTGCTGGTGGACAGGAGCCCTGCTCACCTGTGGGAAGGGCAGGGCCAGCAAGGGCAGCAGAGCTCCCTGGGGGCAGCTAGGCTGTGTGTGCATGTGGCCCTCCAGCTGGTCCCAGGGGAGATGCGGGGACAGGGGACAGTCCAGGCAGACAGGTACAGCTGAGTAGGGCTCTGCCTGAGGTGTTCTGGCATCAGGAGGCTGCCTGATCCCCAACAGGCATGACAGGCTCCAGGGAGCAATGGGACATCTGCCCAAAGGATCAAAGTCCAACTTGGCCAGATCCCAAGCTTCGCCTGCATCATGTCCCTGGCTCTGCAACGGGTACCCCCAACTCCGGGGACGAGCCATGGCCTCAAGCAGCAGCTGGCTACGCTGCCGAAACCAGGACACATCTGCATCACACAGAAAGCTGCGCCACCCTGGTGTGACAGGCCCTACTTGGTCACCCTAGGGTAAGCT
Task1_train_6745
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?
Pathogenic; Chilblain lupus 1
GGAGGTGAGTGGGTAGGGGCCAACAGCTGGCAGCTCTGGTGGTAAGGGGGCCCCGTGCAAGGACTGTAGGCCCCACTGCAAACCCCCTCACGTGAGGTGGCTAGGCTGAGCGGATTGTTAGGGTGCAGGCCATGGTGGCACCAGGCCTCAGTCTGCACCCCCCCTCTCTCAGGTGGTCAGAGCGCTCACGGTGATGTTGCACAGACAGTGGCTGACAGTGCGGAGGGCAGGGGGACCCCCAAGGACCGACCAGCAGAGGCGGACAGTGCGCTGTCTGCGGGACACGGTGCTGCTGCTGCACGGCCTATCGCAGAAGGACAAGCTCTTCATGATGCACTGCGTGGAGGTCCTGCATCAGTTTGACCAGGTGATGCCGGGGGTCAGCATGCTCATCCGAGGGCTTCCTGATGTGACGGACTGTGAAGGTAAGCCTGCCAGAGGCCATCCTGCCCAGCCCCCATGGCTTCTTCCAGAGGTTCCCCAACAAGTCAGATTCCTGGGTGTCCCCTCAGCAGGCCCCCGCCCACTGCAGCCTGTTCCAGCACTGGGGCCATTTTCTTTTATCTTCCTGCCTCAGTTCTTCTCCAAGCATATTGGGATGCCTTTTGCATCTATCTGTTGAGTGTGCCTGGCAGAGCCACGGTTTTTCCAGAAATAGCCGTGTCTGAATTGCCTTTGTATCACTTTGTTTGCAGTAGCTGAGGGAGCAGGGCCTGGGTGTGGAAGGGACTGGTTAGTTCCTGCGGACGTTGGGGGAGGAGAGGTGGGACCTGCCCTAGGCCCTGGCACCTTTGGGCCCTCACCAGGAACCTCTCCTTTTTGTCTCAGAGGCAGCCCTGGATGACCTCTGTGCCGCGGAAACCGATGTGGAAGACCCCGAGGTGGAGTGTGGCTGAGGCCCTGAGTGTCCAGCCACATGGTGGCACCAGCACCACTCCTTTCCTTACCACATCAACTGATTAAAGCAGTGACCAGCAGGAACTGCCCAGAGAACTGGCTGGCCTTGTTTCCTGAGTCTGATCTGTTTGGCGGAGTGGGAGGGGTGGAGCAGGACCCGGACCCTGAGTGGCTGGGATCCTTCTTCCTGTCCCTGGCTGTTGCTGAGCCCGTCCCCATGGTAACTGATCTGCCTTGAGGAAGGAGCCCTGCCCTGCCTGTGGAATTGTCCTGAGTCATTGCTTTGGGCTGGGGCCATGGGAAGAAACCATTGTGTGGCAGGGAAGGAGGTGGCTCTTGGCCCAGGCCTAAACCAGGAAAGCCTGGGAAACTGGGACCCACAGGTGGGCATGAAAGGGCCGCAGCAGGGGCTCCCAGCAGTGTGTAAGACCGGGAGCTGGTCTGGCACCACTGCCCTGGTCCTTCCAGCTGCCTGTCACTGGTATGATGGCCCCGGTGCATTGTGCCACCAGCAGGCCACAGCTGTGGATCTTGGAAGGCCTCTGGGGTCCCCCGGGAGCAGGGGAGTGGGTGTGGGGGGGAACGGATGGTGGTGAGAGGGACAGACCAGGCAGGCTGACGAGCAGGGCGGGCCTGGCTCACGTGGGCCTGTAGGCGGGCCCACGCCAAGTTTCACTTCCCGCCACTGCTGCCAGCGAGAGCCGCGGGAGAGTGTGCAGCCGAGTCACTACTGCCTGCCTGCCTGCCTGCTACGGTGAGTGTGGCCCCCACAATGGGATGGCGCAGGGCAGGAGGGCCATGGGTTCCCCCACCCCAGACTAAGGGGGCACTAGGGGAGGGGCCGAGTCATGTGAAGAGGGAGACCCTCTCAGACAGTCGAATGTGCTGGTCCCACTAAGGAAACCACCTCACCCTCTCCAACTTCCTGCCTGAAAATGGGCCCTGGAGCTCGCAGACAGGGCAGGATTGTGCAGGGAAGGCCTGAGATGTGCTTCTGCCCACCCCCTACCCCACTCCCTCCCCTTCGGATCTTAACACTGGGCACTCACACACCCACCCCATGCTCCTCTCCAGGCTCAGCAGCAGGTACGTACCCAACCATGGGCTCGCAGGCCCTGCCCCCGGGGCCCATGCAGACCCTCATCTTTTTCGACATGGAGGCCACTGGCTTGCCCTTCTCCCAGCCCAAGGTCACGGAGCTGTGCCTGCTGGCTGTCCACAGATGTGCCCTGGAGAGCCCCCCCACCTCTCAGGGGCCACCTCCCACAGTTCCTCCACCACCGCGTGTGGTAGACAAGCTCTCCCTGTGTGTGGCTCCGGGGAAGGCCTGCAGCCCTGCAGCCAGCGAGATCACAGGTCTGAGCACAGCTGTGCTGGCAGCGCATGGGCGTCAATGTTTTGATGACAACCTGGCCAACCTGCTCCTAGCCTTCCTGCGGCGCCAGCCACAGCCCTGGTGCCTGGTGGCACACAATGGTGACCGCTACGACTTCCCCCTGCTCCAAGCAGAGCTGGCTATGCTGGGCCTCACCAGTGCTCTGGATGGTGCCTTCTGTGTGGATAGCATCACTGCGCTGAAGGCCCTGGAGCGAGCAAGCAGCCCCTCAGAACACGGCCCAAGGAAGAGCTATAGCCTAGGCAGCATCTACACTCGCCTGTATGGGCAGTCCCCTCCAGACTCGCACACGGCTGAGGGTGATGTCCTGGCCCTGCTCAGCATCTGTCAGTGGAGACCACAGGCCCTGCTGCGGTGGGTGGATGCTCACGCCAGGCCTTTCGGCACCATCAGGCCCATGTATGGGGTCACAGCCTCTGCTAGGACCAAGCCAAGACCATCTGCTGTCACAACCACTGCACACCTGGCCACAACCAGGAACACTAGTCCCAGCCTTGGAGAGAGCAGGGGTACCAAGGATCTTCCTCCAGTGAAGGACCCTGGAGCCCTATCCAGGGAGGGGCTGCTGGCCCCACTGGGTCTGCTGGCCATCCTGACCTTGGCAGTAGCCACACTGTATGGACTATCCCTGGCCACACCTGGGGAGTAGGCCAAGAAGGAAAATCTGACGAATAAAGACCCCCGCTGCCCCATAGCACTGAGTGGTCAATTGGCTCCTACCCTTCTTGGCAGCACAGACCTCTGCCCACACCCAGGGACCTGGGGAGGAGGGCACAGTGTTTGTCCCTCACTTTCCCTAGCAGGATGGTCAACTATCTGAGCCCAGTAAAAGTAGGGAAAACACAGAGAAGCCCAAATGGATGGAAAGAGTACAGCCTGATTCCAATTCCAGCAGCCGAGGCCAGGAAGAAAGGGGGCAGCAGCTCCAAACGATTGCATTTATTATAAACAAGTGTACAGACCCTAGACTCAGAAACACAACAGATTTGAGCTAAGACAGCTCTGGTGAAACAGTAATAGAGGGAGGAGGAACACGAGGTATTCATGTCTGGGCCAGAGCTGCCATCCAGGGCCCCACACCCCACCTTTGGTCCAGATGGCCCATTGGCCCAGGTGTCCCTGCTGCCAGAACACCGTGGACTGGGGTACAGGAGTTGTTGCATATTCCATGAGGCTGGTGTCGGGAAGCAGGGACTCACAGTTGCCAGGTTGTCCATCTCTGAGCCAATTTCCCTCCACAACCCAGGGGTTTCAGTCTCATATCAACTATCATGTTTGAAACAGAAAACAGGCAAAATGTTTGGCTAAAATAAAATGAAAACACTGCAGGGAAGAGAACTGAGTGTGCTGGTGGACAGGAGCCCTGCTCACCTGTGGGAAGGGCAGGGCCAGCAAGGGCAGCAGAGCTCCCTGGGGGCAGCTAGGCTGTGTGTGCATGTGGCCCTCCAGCTGGTCCCAGGGGAGATGCGGGGACAGGGGACAGTCCAGGCAGACAGGTACAGCTGAGTAGGGCTCTGCCTGAGGTGTTCTGGCATCAGGAGGCTGCCTGATCCCCAACAGGCATGACAGGCTCCAGGGAGCAATGGGACATCTGCCCAAAGGATCAAAGTCCAACTTGGCCAGATCCCAAGCTTCGCCTGCATCATGTCCCTGGCTCTGCAACGGGTACCCCCAACTCCGGGGACGAGCCATGGCCTCAAGCAGCAGCTGGCTACGCTGCCGAAACCAGGACACATCTGCATCACACAGAAAGCTGCGCCACCCTGGTGTGACAGGCCCTACTTGGTCACCCTAGGGTAAGCT
GGAGGTGAGTGGGTAGGGGCCAACAGCTGGCAGCTCTGGTGGTAAGGGGGCCCCGTGCAAGGACTGTAGGCCCCACTGCAAACCCCCTCACGTGAGGTGGCTAGGCTGAGCGGATTGTTAGGGTGCAGGCCATGGTGGCACCAGGCCTCAGTCTGCACCCCCCCTCTCTCAGGTGGTCAGAGCGCTCACGGTGATGTTGCACAGACAGTGGCTGACAGTGCGGAGGGCAGGGGGACCCCCAAGGACCGACCAGCAGAGGCGGACAGTGCGCTGTCTGCGGGACACGGTGCTGCTGCTGCACGGCCTATCGCAGAAGGACAAGCTCTTCATGATGCACTGCGTGGAGGTCCTGCATCAGTTTGACCAGGTGATGCCGGGGGTCAGCATGCTCATCCGAGGGCTTCCTGATGTGACGGACTGTGAAGGTAAGCCTGCCAGAGGCCATCCTGCCCAGCCCCCATGGCTTCTTCCAGAGGTTCCCCAACAAGTCAGATTCCTGGGTGTCCCCTCAGCAGGCCCCCGCCCACTGCAGCCTGTTCCAGCACTGGGGCCATTTTCTTTTATCTTCCTGCCTCAGTTCTTCTCCAAGCATATTGGGATGCCTTTTGCATCTATCTGTTGAGTGTGCCTGGCAGAGCCACGGTTTTTCCAGAAATAGCCGTGTCTGAATTGCCTTTGTATCACTTTGTTTGCAGTAGCTGAGGGAGCAGGGCCTGGGTGTGGAAGGGACTGGTTAGTTCCTGCGGACGTTGGGGGAGGAGAGGTGGGACCTGCCCTAGGCCCTGGCACCTTTGGGCCCTCACCAGGAACCTCTCCTTTTTGTCTCAGAGGCAGCCCTGGATGACCTCTGTGCCGCGGAAACCGATGTGGAAGACCCCGAGGTGGAGTGTGGCTGAGGCCCTGAGTGTCCAGCCACATGGTGGCACCAGCACCACTCCTTTCCTTACCACATCAACTGATTAAAGCAGTGACCAGCAGGAACTGCCCAGAGAACTGGCTGGCCTTGTTTCCTGAGTCTGATCTGTTTGGCGGAGTGGGAGGGGTGGAGCAGGACCCGGACCCTGAGTGGCTGGGATCCTTCTTCCTGTCCCTGGCTGTTGCTGAGCCCGTCCCCATGGTAACTGATCTGCCTTGAGGAAGGAGCCCTGCCCTGCCTGTGGAATTGTCCTGAGTCATTGCTTTGGGCTGGGGCCATGGGAAGAAACCATTGTGTGGCAGGGAAGGAGGTGGCTCTTGGCCCAGGCCTAAACCAGGAAAGCCTGGGAAACTGGGACCCACAGGTGGGCATGAAAGGGCCGCAGCAGGGGCTCCCAGCAGTGTGTAAGACCGGGAGCTGGTCTGGCACCACTGCCCTGGTCCTTCCAGCTGCCTGTCACTGGTATGATGGCCCCGGTGCATTGTGCCACCAGCAGGCCACAGCTGTGGATCTTGGAAGGCCTCTGGGGTCCCCCGGGAGCAGGGGAGTGGGTGTGGGGGGGAACGGATGGTGGTGAGAGGGACAGACCAGGCAGGCTGACGAGCAGGGCGGGCCTGGCTCACGTGGGCCTGTAGGCGGGCCCACGCCAAGTTTCACTTCCCGCCACTGCTGCCAGCGAGAGCCGCGGGAGAGTGTGCAGCCGAGTCACTACTGCCTGCCTGCCTGCCTGCTACGGTGAGTGTGGCCCCCACAATGGGATGGCGCAGGGCAGGAGGGCCATGGGTTCCCCCACCCCAGACTAAGGGGGCACTAGGGGAGGGGCCGAGTCATGTGAAGAGGGAGACCCTCTCAGACAGTCGAATGTGCTGGTCCCACTAAGGAAACCACCTCACCCTCTCCAACTTCCTGCCTGAAAATGGGCCCTGGAGCTCGCAGACAGGGCAGGATTGTGCAGGGAAGGCCTGAGATGTGCTTCTGCCCACCCCCTACCCCACTCCCTCCCCTTCGGATCTTAACACTGGGCACTCACACACCCACCCCATGCTCCTCTCCAGGCTCAGCAGCAGGTACGTACCCAACCATGGGCTCGCAGGCCCTGCCCCCGGGGCCCATGCAGACCCTCATCTTTTTCAACATGGAGGCCACTGGCTTGCCCTTCTCCCAGCCCAAGGTCACGGAGCTGTGCCTGCTGGCTGTCCACAGATGTGCCCTGGAGAGCCCCCCCACCTCTCAGGGGCCACCTCCCACAGTTCCTCCACCACCGCGTGTGGTAGACAAGCTCTCCCTGTGTGTGGCTCCGGGGAAGGCCTGCAGCCCTGCAGCCAGCGAGATCACAGGTCTGAGCACAGCTGTGCTGGCAGCGCATGGGCGTCAATGTTTTGATGACAACCTGGCCAACCTGCTCCTAGCCTTCCTGCGGCGCCAGCCACAGCCCTGGTGCCTGGTGGCACACAATGGTGACCGCTACGACTTCCCCCTGCTCCAAGCAGAGCTGGCTATGCTGGGCCTCACCAGTGCTCTGGATGGTGCCTTCTGTGTGGATAGCATCACTGCGCTGAAGGCCCTGGAGCGAGCAAGCAGCCCCTCAGAACACGGCCCAAGGAAGAGCTATAGCCTAGGCAGCATCTACACTCGCCTGTATGGGCAGTCCCCTCCAGACTCGCACACGGCTGAGGGTGATGTCCTGGCCCTGCTCAGCATCTGTCAGTGGAGACCACAGGCCCTGCTGCGGTGGGTGGATGCTCACGCCAGGCCTTTCGGCACCATCAGGCCCATGTATGGGGTCACAGCCTCTGCTAGGACCAAGCCAAGACCATCTGCTGTCACAACCACTGCACACCTGGCCACAACCAGGAACACTAGTCCCAGCCTTGGAGAGAGCAGGGGTACCAAGGATCTTCCTCCAGTGAAGGACCCTGGAGCCCTATCCAGGGAGGGGCTGCTGGCCCCACTGGGTCTGCTGGCCATCCTGACCTTGGCAGTAGCCACACTGTATGGACTATCCCTGGCCACACCTGGGGAGTAGGCCAAGAAGGAAAATCTGACGAATAAAGACCCCCGCTGCCCCATAGCACTGAGTGGTCAATTGGCTCCTACCCTTCTTGGCAGCACAGACCTCTGCCCACACCCAGGGACCTGGGGAGGAGGGCACAGTGTTTGTCCCTCACTTTCCCTAGCAGGATGGTCAACTATCTGAGCCCAGTAAAAGTAGGGAAAACACAGAGAAGCCCAAATGGATGGAAAGAGTACAGCCTGATTCCAATTCCAGCAGCCGAGGCCAGGAAGAAAGGGGGCAGCAGCTCCAAACGATTGCATTTATTATAAACAAGTGTACAGACCCTAGACTCAGAAACACAACAGATTTGAGCTAAGACAGCTCTGGTGAAACAGTAATAGAGGGAGGAGGAACACGAGGTATTCATGTCTGGGCCAGAGCTGCCATCCAGGGCCCCACACCCCACCTTTGGTCCAGATGGCCCATTGGCCCAGGTGTCCCTGCTGCCAGAACACCGTGGACTGGGGTACAGGAGTTGTTGCATATTCCATGAGGCTGGTGTCGGGAAGCAGGGACTCACAGTTGCCAGGTTGTCCATCTCTGAGCCAATTTCCCTCCACAACCCAGGGGTTTCAGTCTCATATCAACTATCATGTTTGAAACAGAAAACAGGCAAAATGTTTGGCTAAAATAAAATGAAAACACTGCAGGGAAGAGAACTGAGTGTGCTGGTGGACAGGAGCCCTGCTCACCTGTGGGAAGGGCAGGGCCAGCAAGGGCAGCAGAGCTCCCTGGGGGCAGCTAGGCTGTGTGTGCATGTGGCCCTCCAGCTGGTCCCAGGGGAGATGCGGGGACAGGGGACAGTCCAGGCAGACAGGTACAGCTGAGTAGGGCTCTGCCTGAGGTGTTCTGGCATCAGGAGGCTGCCTGATCCCCAACAGGCATGACAGGCTCCAGGGAGCAATGGGACATCTGCCCAAAGGATCAAAGTCCAACTTGGCCAGATCCCAAGCTTCGCCTGCATCATGTCCCTGGCTCTGCAACGGGTACCCCCAACTCCGGGGACGAGCCATGGCCTCAAGCAGCAGCTGGCTACGCTGCCGAAACCAGGACACATCTGCATCACACAGAAAGCTGCGCCACCCTGGTGTGACAGGCCCTACTTGGTCACCCTAGGGTAAGCT
Task1_train_6746
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.
Pathogenic; Aicardi-Goutieres syndrome 1
GGAGGTGAGTGGGTAGGGGCCAACAGCTGGCAGCTCTGGTGGTAAGGGGGCCCCGTGCAAGGACTGTAGGCCCCACTGCAAACCCCCTCACGTGAGGTGGCTAGGCTGAGCGGATTGTTAGGGTGCAGGCCATGGTGGCACCAGGCCTCAGTCTGCACCCCCCCTCTCTCAGGTGGTCAGAGCGCTCACGGTGATGTTGCACAGACAGTGGCTGACAGTGCGGAGGGCAGGGGGACCCCCAAGGACCGACCAGCAGAGGCGGACAGTGCGCTGTCTGCGGGACACGGTGCTGCTGCTGCACGGCCTATCGCAGAAGGACAAGCTCTTCATGATGCACTGCGTGGAGGTCCTGCATCAGTTTGACCAGGTGATGCCGGGGGTCAGCATGCTCATCCGAGGGCTTCCTGATGTGACGGACTGTGAAGGTAAGCCTGCCAGAGGCCATCCTGCCCAGCCCCCATGGCTTCTTCCAGAGGTTCCCCAACAAGTCAGATTCCTGGGTGTCCCCTCAGCAGGCCCCCGCCCACTGCAGCCTGTTCCAGCACTGGGGCCATTTTCTTTTATCTTCCTGCCTCAGTTCTTCTCCAAGCATATTGGGATGCCTTTTGCATCTATCTGTTGAGTGTGCCTGGCAGAGCCACGGTTTTTCCAGAAATAGCCGTGTCTGAATTGCCTTTGTATCACTTTGTTTGCAGTAGCTGAGGGAGCAGGGCCTGGGTGTGGAAGGGACTGGTTAGTTCCTGCGGACGTTGGGGGAGGAGAGGTGGGACCTGCCCTAGGCCCTGGCACCTTTGGGCCCTCACCAGGAACCTCTCCTTTTTGTCTCAGAGGCAGCCCTGGATGACCTCTGTGCCGCGGAAACCGATGTGGAAGACCCCGAGGTGGAGTGTGGCTGAGGCCCTGAGTGTCCAGCCACATGGTGGCACCAGCACCACTCCTTTCCTTACCACATCAACTGATTAAAGCAGTGACCAGCAGGAACTGCCCAGAGAACTGGCTGGCCTTGTTTCCTGAGTCTGATCTGTTTGGCGGAGTGGGAGGGGTGGAGCAGGACCCGGACCCTGAGTGGCTGGGATCCTTCTTCCTGTCCCTGGCTGTTGCTGAGCCCGTCCCCATGGTAACTGATCTGCCTTGAGGAAGGAGCCCTGCCCTGCCTGTGGAATTGTCCTGAGTCATTGCTTTGGGCTGGGGCCATGGGAAGAAACCATTGTGTGGCAGGGAAGGAGGTGGCTCTTGGCCCAGGCCTAAACCAGGAAAGCCTGGGAAACTGGGACCCACAGGTGGGCATGAAAGGGCCGCAGCAGGGGCTCCCAGCAGTGTGTAAGACCGGGAGCTGGTCTGGCACCACTGCCCTGGTCCTTCCAGCTGCCTGTCACTGGTATGATGGCCCCGGTGCATTGTGCCACCAGCAGGCCACAGCTGTGGATCTTGGAAGGCCTCTGGGGTCCCCCGGGAGCAGGGGAGTGGGTGTGGGGGGGAACGGATGGTGGTGAGAGGGACAGACCAGGCAGGCTGACGAGCAGGGCGGGCCTGGCTCACGTGGGCCTGTAGGCGGGCCCACGCCAAGTTTCACTTCCCGCCACTGCTGCCAGCGAGAGCCGCGGGAGAGTGTGCAGCCGAGTCACTACTGCCTGCCTGCCTGCCTGCTACGGTGAGTGTGGCCCCCACAATGGGATGGCGCAGGGCAGGAGGGCCATGGGTTCCCCCACCCCAGACTAAGGGGGCACTAGGGGAGGGGCCGAGTCATGTGAAGAGGGAGACCCTCTCAGACAGTCGAATGTGCTGGTCCCACTAAGGAAACCACCTCACCCTCTCCAACTTCCTGCCTGAAAATGGGCCCTGGAGCTCGCAGACAGGGCAGGATTGTGCAGGGAAGGCCTGAGATGTGCTTCTGCCCACCCCCTACCCCACTCCCTCCCCTTCGGATCTTAACACTGGGCACTCACACACCCACCCCATGCTCCTCTCCAGGCTCAGCAGCAGGTACGTACCCAACCATGGGCTCGCAGGCCCTGCCCCCGGGGCCCATGCAGACCCTCATCTTTTTCGACATGGAGGCCACTGGCTTGCCCTTCTCCCAGCCCAAGGTCACGGAGCTGTGCCTGCTGGCTGTCCACAGATGTGCCCTGGAGAGCCCCCCCACCTCTCAGGGGCCACCTCCCACAGTTCCTCCACCACCGCGTGTGGTAGACAAGCTCTCCCTGTGTGTGGCTCCGGGGAAGGCCTGCAGCCCTGCAGCCAGCGAGATCACAGGTCTGAGCACAGCTGTGCTGGCAGCGCATGGGCGTCAATGTTTTGATGACAACCTGGCCAACCTGCTCCTAGCCTTCCTGCGGCGCCAGCCACAGCCCTGGTGCCTGGTGGCACACAATGGTGACCGCTACGACTTCCCCCTGCTCCAAGCAGAGCTGGCTATGCTGGGCCTCACCAGTGCTCTGGATGGTGCCTTCTGTGTGGATAGCATCACTGCGCTGAAGGCCCTGGAGCGAGCAAGCAGCCCCTCAGAACACGGCCCAAGGAAGAGCTATAGCCTAGGCAGCATCTACACTCGCCTGTATGGGCAGTCCCCTCCAGACTCGCACACGGCTGAGGGTGATGTCCTGGCCCTGCTCAGCATCTGTCAGTGGAGACCACAGGCCCTGCTGCGGTGGGTGGATGCTCACGCCAGGCCTTTCGGCACCATCAGGCCCATGTATGGGGTCACAGCCTCTGCTAGGACCAAGCCAAGACCATCTGCTGTCACAACCACTGCACACCTGGCCACAACCAGGAACACTAGTCCCAGCCTTGGAGAGAGCAGGGGTACCAAGGATCTTCCTCCAGTGAAGGACCCTGGAGCCCTATCCAGGGAGGGGCTGCTGGCCCCACTGGGTCTGCTGGCCATCCTGACCTTGGCAGTAGCCACACTGTATGGACTATCCCTGGCCACACCTGGGGAGTAGGCCAAGAAGGAAAATCTGACGAATAAAGACCCCCGCTGCCCCATAGCACTGAGTGGTCAATTGGCTCCTACCCTTCTTGGCAGCACAGACCTCTGCCCACACCCAGGGACCTGGGGAGGAGGGCACAGTGTTTGTCCCTCACTTTCCCTAGCAGGATGGTCAACTATCTGAGCCCAGTAAAAGTAGGGAAAACACAGAGAAGCCCAAATGGATGGAAAGAGTACAGCCTGATTCCAATTCCAGCAGCCGAGGCCAGGAAGAAAGGGGGCAGCAGCTCCAAACGATTGCATTTATTATAAACAAGTGTACAGACCCTAGACTCAGAAACACAACAGATTTGAGCTAAGACAGCTCTGGTGAAACAGTAATAGAGGGAGGAGGAACACGAGGTATTCATGTCTGGGCCAGAGCTGCCATCCAGGGCCCCACACCCCACCTTTGGTCCAGATGGCCCATTGGCCCAGGTGTCCCTGCTGCCAGAACACCGTGGACTGGGGTACAGGAGTTGTTGCATATTCCATGAGGCTGGTGTCGGGAAGCAGGGACTCACAGTTGCCAGGTTGTCCATCTCTGAGCCAATTTCCCTCCACAACCCAGGGGTTTCAGTCTCATATCAACTATCATGTTTGAAACAGAAAACAGGCAAAATGTTTGGCTAAAATAAAATGAAAACACTGCAGGGAAGAGAACTGAGTGTGCTGGTGGACAGGAGCCCTGCTCACCTGTGGGAAGGGCAGGGCCAGCAAGGGCAGCAGAGCTCCCTGGGGGCAGCTAGGCTGTGTGTGCATGTGGCCCTCCAGCTGGTCCCAGGGGAGATGCGGGGACAGGGGACAGTCCAGGCAGACAGGTACAGCTGAGTAGGGCTCTGCCTGAGGTGTTCTGGCATCAGGAGGCTGCCTGATCCCCAACAGGCATGACAGGCTCCAGGGAGCAATGGGACATCTGCCCAAAGGATCAAAGTCCAACTTGGCCAGATCCCAAGCTTCGCCTGCATCATGTCCCTGGCTCTGCAACGGGTACCCCCAACTCCGGGGACGAGCCATGGCCTCAAGCAGCAGCTGGCTACGCTGCCGAAACCAGGACACATCTGCATCACACAGAAAGCTGCGCCACCCTGGTGTGACAGGCCCTACTTGGTCACCCTAGGGTAAGCT
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.
Pathogenic; Chilblain lupus 1
GGGGCCATTTTCTTTTATCTTCCTGCCTCAGTTCTTCTCCAAGCATATTGGGATGCCTTTTGCATCTATCTGTTGAGTGTGCCTGGCAGAGCCACGGTTTTTCCAGAAATAGCCGTGTCTGAATTGCCTTTGTATCACTTTGTTTGCAGTAGCTGAGGGAGCAGGGCCTGGGTGTGGAAGGGACTGGTTAGTTCCTGCGGACGTTGGGGGAGGAGAGGTGGGACCTGCCCTAGGCCCTGGCACCTTTGGGCCCTCACCAGGAACCTCTCCTTTTTGTCTCAGAGGCAGCCCTGGATGACCTCTGTGCCGCGGAAACCGATGTGGAAGACCCCGAGGTGGAGTGTGGCTGAGGCCCTGAGTGTCCAGCCACATGGTGGCACCAGCACCACTCCTTTCCTTACCACATCAACTGATTAAAGCAGTGACCAGCAGGAACTGCCCAGAGAACTGGCTGGCCTTGTTTCCTGAGTCTGATCTGTTTGGCGGAGTGGGAGGGGTGGAGCAGGACCCGGACCCTGAGTGGCTGGGATCCTTCTTCCTGTCCCTGGCTGTTGCTGAGCCCGTCCCCATGGTAACTGATCTGCCTTGAGGAAGGAGCCCTGCCCTGCCTGTGGAATTGTCCTGAGTCATTGCTTTGGGCTGGGGCCATGGGAAGAAACCATTGTGTGGCAGGGAAGGAGGTGGCTCTTGGCCCAGGCCTAAACCAGGAAAGCCTGGGAAACTGGGACCCACAGGTGGGCATGAAAGGGCCGCAGCAGGGGCTCCCAGCAGTGTGTAAGACCGGGAGCTGGTCTGGCACCACTGCCCTGGTCCTTCCAGCTGCCTGTCACTGGTATGATGGCCCCGGTGCATTGTGCCACCAGCAGGCCACAGCTGTGGATCTTGGAAGGCCTCTGGGGTCCCCCGGGAGCAGGGGAGTGGGTGTGGGGGGGAACGGATGGTGGTGAGAGGGACAGACCAGGCAGGCTGACGAGCAGGGCGGGCCTGGCTCACGTGGGCCTGTAGGCGGGCCCACGCCAAGTTTCACTTCCCGCCACTGCTGCCAGCGAGAGCCGCGGGAGAGTGTGCAGCCGAGTCACTACTGCCTGCCTGCCTGCCTGCTACGGTGAGTGTGGCCCCCACAATGGGATGGCGCAGGGCAGGAGGGCCATGGGTTCCCCCACCCCAGACTAAGGGGGCACTAGGGGAGGGGCCGAGTCATGTGAAGAGGGAGACCCTCTCAGACAGTCGAATGTGCTGGTCCCACTAAGGAAACCACCTCACCCTCTCCAACTTCCTGCCTGAAAATGGGCCCTGGAGCTCGCAGACAGGGCAGGATTGTGCAGGGAAGGCCTGAGATGTGCTTCTGCCCACCCCCTACCCCACTCCCTCCCCTTCGGATCTTAACACTGGGCACTCACACACCCACCCCATGCTCCTCTCCAGGCTCAGCAGCAGGTACGTACCCAACCATGGGCTCGCAGGCCCTGCCCCCGGGGCCCATGCAGACCCTCATCTTTTTCGACATGGAGGCCACTGGCTTGCCCTTCTCCCAGCCCAAGGTCACGGAGCTGTGCCTGCTGGCTGTCCACAGATGTGCCCTGGAGAGCCCCCCCACCTCTCAGGGGCCACCTCCCACAGTTCCTCCACCACCGCGTGTGGTAGACAAGCTCTCCCTGTGTGTGGCTCCGGGGAAGGCCTGCAGCCCTGCAGCCAGCGAGATCACAGGTCTGAGCACAGCTGTGCTGGCAGCGCATGGGCGTCAATGTTTTGATGACAACCTGGCCAACCTGCTCCTAGCCTTCCTGCGGCGCCAGCCACAGCCCTGGTGCCTGGTGGCACACAATGGTGACCGCTACGACTTCCCCCTGCTCCAAGCAGAGCTGGCTATGCTGGGCCTCACCAGTGCTCTGGATGGTGCCTTCTGTGTGGATAGCATCACTGCGCTGAAGGCCCTGGAGCGAGCAAGCAGCCCCTCAGAACACGGCCCAAGGAAGAGCTATAGCCTAGGCAGCATCTACACTCGCCTGTATGGGCAGTCCCCTCCAGACTCGCACACGGCTGAGGGTGATGTCCTGGCCCTGCTCAGCATCTGTCAGTGGAGACCACAGGCCCTGCTGCGGTGGGTGGATGCTCACGCCAGGCCTTTCGGCACCATCAGGCCCATGTATGGGGTCACAGCCTCTGCTAGGACCAAGCCAAGACCATCTGCTGTCACAACCACTGCACACCTGGCCACAACCAGGAACACTAGTCCCAGCCTTGGAGAGAGCAGGGGTACCAAGGATCTTCCTCCAGTGAAGGACCCTGGAGCCCTATCCAGGGAGGGGCTGCTGGCCCCACTGGGTCTGCTGGCCATCCTGACCTTGGCAGTAGCCACACTGTATGGACTATCCCTGGCCACACCTGGGGAGTAGGCCAAGAAGGAAAATCTGACGAATAAAGACCCCCGCTGCCCCATAGCACTGAGTGGTCAATTGGCTCCTACCCTTCTTGGCAGCACAGACCTCTGCCCACACCCAGGGACCTGGGGAGGAGGGCACAGTGTTTGTCCCTCACTTTCCCTAGCAGGATGGTCAACTATCTGAGCCCAGTAAAAGTAGGGAAAACACAGAGAAGCCCAAATGGATGGAAAGAGTACAGCCTGATTCCAATTCCAGCAGCCGAGGCCAGGAAGAAAGGGGGCAGCAGCTCCAAACGATTGCATTTATTATAAACAAGTGTACAGACCCTAGACTCAGAAACACAACAGATTTGAGCTAAGACAGCTCTGGTGAAACAGTAATAGAGGGAGGAGGAACACGAGGTATTCATGTCTGGGCCAGAGCTGCCATCCAGGGCCCCACACCCCACCTTTGGTCCAGATGGCCCATTGGCCCAGGTGTCCCTGCTGCCAGAACACCGTGGACTGGGGTACAGGAGTTGTTGCATATTCCATGAGGCTGGTGTCGGGAAGCAGGGACTCACAGTTGCCAGGTTGTCCATCTCTGAGCCAATTTCCCTCCACAACCCAGGGGTTTCAGTCTCATATCAACTATCATGTTTGAAACAGAAAACAGGCAAAATGTTTGGCTAAAATAAAATGAAAACACTGCAGGGAAGAGAACTGAGTGTGCTGGTGGACAGGAGCCCTGCTCACCTGTGGGAAGGGCAGGGCCAGCAAGGGCAGCAGAGCTCCCTGGGGGCAGCTAGGCTGTGTGTGCATGTGGCCCTCCAGCTGGTCCCAGGGGAGATGCGGGGACAGGGGACAGTCCAGGCAGACAGGTACAGCTGAGTAGGGCTCTGCCTGAGGTGTTCTGGCATCAGGAGGCTGCCTGATCCCCAACAGGCATGACAGGCTCCAGGGAGCAATGGGACATCTGCCCAAAGGATCAAAGTCCAACTTGGCCAGATCCCAAGCTTCGCCTGCATCATGTCCCTGGCTCTGCAACGGGTACCCCCAACTCCGGGGACGAGCCATGGCCTCAAGCAGCAGCTGGCTACGCTGCCGAAACCAGGACACATCTGCATCACACAGAAAGCTGCGCCACCCTGGTGTGACAGGCCCTACTTGGTCACCCTAGGGTAAGCTGGAGAAGAACTCCAGATGTGCCCTGGAGAGGCCCCCACCTCTCAGGGGCCACCTCACAGGGTGCCCCCCACCACCCCATTCTTTGAGTTTGGCTTGAGATTTTAGGAAGCATAATTTCAGGTGAGGAAGAGAACAAAGTCTGGTCCCAGCCCACTCTGGCAAGGATTGTTCCCCACCTTGTCAGCATCAGAGGAAGCCACATATACAGGCAGGACACACACAGCACACATGGGGCGTAAGGAACCGTGCCTGGACACACACAGCACACATGGGGCGTAAGGAACCGCGCCTGCACACCACTCACGCACACACACAACATAACCAAGTGGCAGCCAGAGAGGCCAGGGAATGCTCAGAGGGCCGCCTTCGGGGCATCCATGTAGGCCGGGTTGTAAGGAGGCTGGCTGGCGGGGTAGGGCGCGGCTGCTCCTCCTGAAAGCAGAGAGGACCCTGGTTGGCTGTGAGCATGGTGGGCTGCCGTGTGAGTGGCAGGCAAGCAGAAAGGGGCAGAGGCCTGTTGAGTGATGTAGTTTGGGATGGGTGCCC
GGGGCCATTTTCTTTTATCTTCCTGCCTCAGTTCTTCTCCAAGCATATTGGGATGCCTTTTGCATCTATCTGTTGAGTGTGCCTGGCAGAGCCACGGTTTTTCCAGAAATAGCCGTGTCTGAATTGCCTTTGTATCACTTTGTTTGCAGTAGCTGAGGGAGCAGGGCCTGGGTGTGGAAGGGACTGGTTAGTTCCTGCGGACGTTGGGGGAGGAGAGGTGGGACCTGCCCTAGGCCCTGGCACCTTTGGGCCCTCACCAGGAACCTCTCCTTTTTGTCTCAGAGGCAGCCCTGGATGACCTCTGTGCCGCGGAAACCGATGTGGAAGACCCCGAGGTGGAGTGTGGCTGAGGCCCTGAGTGTCCAGCCACATGGTGGCACCAGCACCACTCCTTTCCTTACCACATCAACTGATTAAAGCAGTGACCAGCAGGAACTGCCCAGAGAACTGGCTGGCCTTGTTTCCTGAGTCTGATCTGTTTGGCGGAGTGGGAGGGGTGGAGCAGGACCCGGACCCTGAGTGGCTGGGATCCTTCTTCCTGTCCCTGGCTGTTGCTGAGCCCGTCCCCATGGTAACTGATCTGCCTTGAGGAAGGAGCCCTGCCCTGCCTGTGGAATTGTCCTGAGTCATTGCTTTGGGCTGGGGCCATGGGAAGAAACCATTGTGTGGCAGGGAAGGAGGTGGCTCTTGGCCCAGGCCTAAACCAGGAAAGCCTGGGAAACTGGGACCCACAGGTGGGCATGAAAGGGCCGCAGCAGGGGCTCCCAGCAGTGTGTAAGACCGGGAGCTGGTCTGGCACCACTGCCCTGGTCCTTCCAGCTGCCTGTCACTGGTATGATGGCCCCGGTGCATTGTGCCACCAGCAGGCCACAGCTGTGGATCTTGGAAGGCCTCTGGGGTCCCCCGGGAGCAGGGGAGTGGGTGTGGGGGGGAACGGATGGTGGTGAGAGGGACAGACCAGGCAGGCTGACGAGCAGGGCGGGCCTGGCTCACGTGGGCCTGTAGGCGGGCCCACGCCAAGTTTCACTTCCCGCCACTGCTGCCAGCGAGAGCCGCGGGAGAGTGTGCAGCCGAGTCACTACTGCCTGCCTGCCTGCCTGCTACGGTGAGTGTGGCCCCCACAATGGGATGGCGCAGGGCAGGAGGGCCATGGGTTCCCCCACCCCAGACTAAGGGGGCACTAGGGGAGGGGCCGAGTCATGTGAAGAGGGAGACCCTCTCAGACAGTCGAATGTGCTGGTCCCACTAAGGAAACCACCTCACCCTCTCCAACTTCCTGCCTGAAAATGGGCCCTGGAGCTCGCAGACAGGGCAGGATTGTGCAGGGAAGGCCTGAGATGTGCTTCTGCCCACCCCCTACCCCACTCCCTCCCCTTCGGATCTTAACACTGGGCACTCACACACCCACCCCATGCTCCTCTCCAGGCTCAGCAGCAGGTACGTACCCAACCATGGGCTCGCAGGCCCTGCCCCCGGGGCCCATGCAGACCCTCATCTTTTTCGACATGGAGGCCACTGGCTTGCCCTTCTCCCAGCCCAAGGTCACGGAGCTGTGCCTGCTGGCTGTCCACAGATGTGCCCTGGAGAGCCCCCCCACCTCTCAGGGGCCACCTCCCACAGTTCCTCCACCACCGCGTGTGGTAGACAAGCTCTCCCTGTGTGTGGCTCCGGGGAAGGCCTGCAGCCCTGCAGCCAGCGAGATCACAGGTCTGAGCACAGCTGTGCTGGCAGCGCATGGGCGTCAATGTTTTGATGACAACCTGGCCAACCTGCTCCTAGCCTTCCTGCGGCGCCAGCCACAGCCCTGGTGCCTGGTGGCACACAATGGTGACCGCTACGACTTCCCCCTGCTCCAAGCAGAGCTGGCTATGCTGGGCCTCACCAGTGCTCTGGATGGTGCCTTCTGTGTGGATAGCATCACTGCGCTGAAGGCCCTGGAGCGAGCAAGCAGCCCCTCAGAACACGGCCCAAGGAAGAGCTATAGCCTAGGCAGCATCTACACTCGCCTGTATGGGCAGTCCCCTCCAGACTCGCACACGGCTGAGGGTAATGTCCTGGCCCTGCTCAGCATCTGTCAGTGGAGACCACAGGCCCTGCTGCGGTGGGTGGATGCTCACGCCAGGCCTTTCGGCACCATCAGGCCCATGTATGGGGTCACAGCCTCTGCTAGGACCAAGCCAAGACCATCTGCTGTCACAACCACTGCACACCTGGCCACAACCAGGAACACTAGTCCCAGCCTTGGAGAGAGCAGGGGTACCAAGGATCTTCCTCCAGTGAAGGACCCTGGAGCCCTATCCAGGGAGGGGCTGCTGGCCCCACTGGGTCTGCTGGCCATCCTGACCTTGGCAGTAGCCACACTGTATGGACTATCCCTGGCCACACCTGGGGAGTAGGCCAAGAAGGAAAATCTGACGAATAAAGACCCCCGCTGCCCCATAGCACTGAGTGGTCAATTGGCTCCTACCCTTCTTGGCAGCACAGACCTCTGCCCACACCCAGGGACCTGGGGAGGAGGGCACAGTGTTTGTCCCTCACTTTCCCTAGCAGGATGGTCAACTATCTGAGCCCAGTAAAAGTAGGGAAAACACAGAGAAGCCCAAATGGATGGAAAGAGTACAGCCTGATTCCAATTCCAGCAGCCGAGGCCAGGAAGAAAGGGGGCAGCAGCTCCAAACGATTGCATTTATTATAAACAAGTGTACAGACCCTAGACTCAGAAACACAACAGATTTGAGCTAAGACAGCTCTGGTGAAACAGTAATAGAGGGAGGAGGAACACGAGGTATTCATGTCTGGGCCAGAGCTGCCATCCAGGGCCCCACACCCCACCTTTGGTCCAGATGGCCCATTGGCCCAGGTGTCCCTGCTGCCAGAACACCGTGGACTGGGGTACAGGAGTTGTTGCATATTCCATGAGGCTGGTGTCGGGAAGCAGGGACTCACAGTTGCCAGGTTGTCCATCTCTGAGCCAATTTCCCTCCACAACCCAGGGGTTTCAGTCTCATATCAACTATCATGTTTGAAACAGAAAACAGGCAAAATGTTTGGCTAAAATAAAATGAAAACACTGCAGGGAAGAGAACTGAGTGTGCTGGTGGACAGGAGCCCTGCTCACCTGTGGGAAGGGCAGGGCCAGCAAGGGCAGCAGAGCTCCCTGGGGGCAGCTAGGCTGTGTGTGCATGTGGCCCTCCAGCTGGTCCCAGGGGAGATGCGGGGACAGGGGACAGTCCAGGCAGACAGGTACAGCTGAGTAGGGCTCTGCCTGAGGTGTTCTGGCATCAGGAGGCTGCCTGATCCCCAACAGGCATGACAGGCTCCAGGGAGCAATGGGACATCTGCCCAAAGGATCAAAGTCCAACTTGGCCAGATCCCAAGCTTCGCCTGCATCATGTCCCTGGCTCTGCAACGGGTACCCCCAACTCCGGGGACGAGCCATGGCCTCAAGCAGCAGCTGGCTACGCTGCCGAAACCAGGACACATCTGCATCACACAGAAAGCTGCGCCACCCTGGTGTGACAGGCCCTACTTGGTCACCCTAGGGTAAGCTGGAGAAGAACTCCAGATGTGCCCTGGAGAGGCCCCCACCTCTCAGGGGCCACCTCACAGGGTGCCCCCCACCACCCCATTCTTTGAGTTTGGCTTGAGATTTTAGGAAGCATAATTTCAGGTGAGGAAGAGAACAAAGTCTGGTCCCAGCCCACTCTGGCAAGGATTGTTCCCCACCTTGTCAGCATCAGAGGAAGCCACATATACAGGCAGGACACACACAGCACACATGGGGCGTAAGGAACCGTGCCTGGACACACACAGCACACATGGGGCGTAAGGAACCGCGCCTGCACACCACTCACGCACACACACAACATAACCAAGTGGCAGCCAGAGAGGCCAGGGAATGCTCAGAGGGCCGCCTTCGGGGCATCCATGTAGGCCGGGTTGTAAGGAGGCTGGCTGGCGGGGTAGGGCGCGGCTGCTCCTCCTGAAAGCAGAGAGGACCCTGGTTGGCTGTGAGCATGGTGGGCTGCCGTGTGAGTGGCAGGCAAGCAGAAAGGGGCAGAGGCCTGTTGAGTGATGTAGTTTGGGATGGGTGCCC
Task1_train_6748
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
GGGGCCATTTTCTTTTATCTTCCTGCCTCAGTTCTTCTCCAAGCATATTGGGATGCCTTTTGCATCTATCTGTTGAGTGTGCCTGGCAGAGCCACGGTTTTTCCAGAAATAGCCGTGTCTGAATTGCCTTTGTATCACTTTGTTTGCAGTAGCTGAGGGAGCAGGGCCTGGGTGTGGAAGGGACTGGTTAGTTCCTGCGGACGTTGGGGGAGGAGAGGTGGGACCTGCCCTAGGCCCTGGCACCTTTGGGCCCTCACCAGGAACCTCTCCTTTTTGTCTCAGAGGCAGCCCTGGATGACCTCTGTGCCGCGGAAACCGATGTGGAAGACCCCGAGGTGGAGTGTGGCTGAGGCCCTGAGTGTCCAGCCACATGGTGGCACCAGCACCACTCCTTTCCTTACCACATCAACTGATTAAAGCAGTGACCAGCAGGAACTGCCCAGAGAACTGGCTGGCCTTGTTTCCTGAGTCTGATCTGTTTGGCGGAGTGGGAGGGGTGGAGCAGGACCCGGACCCTGAGTGGCTGGGATCCTTCTTCCTGTCCCTGGCTGTTGCTGAGCCCGTCCCCATGGTAACTGATCTGCCTTGAGGAAGGAGCCCTGCCCTGCCTGTGGAATTGTCCTGAGTCATTGCTTTGGGCTGGGGCCATGGGAAGAAACCATTGTGTGGCAGGGAAGGAGGTGGCTCTTGGCCCAGGCCTAAACCAGGAAAGCCTGGGAAACTGGGACCCACAGGTGGGCATGAAAGGGCCGCAGCAGGGGCTCCCAGCAGTGTGTAAGACCGGGAGCTGGTCTGGCACCACTGCCCTGGTCCTTCCAGCTGCCTGTCACTGGTATGATGGCCCCGGTGCATTGTGCCACCAGCAGGCCACAGCTGTGGATCTTGGAAGGCCTCTGGGGTCCCCCGGGAGCAGGGGAGTGGGTGTGGGGGGGAACGGATGGTGGTGAGAGGGACAGACCAGGCAGGCTGACGAGCAGGGCGGGCCTGGCTCACGTGGGCCTGTAGGCGGGCCCACGCCAAGTTTCACTTCCCGCCACTGCTGCCAGCGAGAGCCGCGGGAGAGTGTGCAGCCGAGTCACTACTGCCTGCCTGCCTGCCTGCTACGGTGAGTGTGGCCCCCACAATGGGATGGCGCAGGGCAGGAGGGCCATGGGTTCCCCCACCCCAGACTAAGGGGGCACTAGGGGAGGGGCCGAGTCATGTGAAGAGGGAGACCCTCTCAGACAGTCGAATGTGCTGGTCCCACTAAGGAAACCACCTCACCCTCTCCAACTTCCTGCCTGAAAATGGGCCCTGGAGCTCGCAGACAGGGCAGGATTGTGCAGGGAAGGCCTGAGATGTGCTTCTGCCCACCCCCTACCCCACTCCCTCCCCTTCGGATCTTAACACTGGGCACTCACACACCCACCCCATGCTCCTCTCCAGGCTCAGCAGCAGGTACGTACCCAACCATGGGCTCGCAGGCCCTGCCCCCGGGGCCCATGCAGACCCTCATCTTTTTCGACATGGAGGCCACTGGCTTGCCCTTCTCCCAGCCCAAGGTCACGGAGCTGTGCCTGCTGGCTGTCCACAGATGTGCCCTGGAGAGCCCCCCCACCTCTCAGGGGCCACCTCCCACAGTTCCTCCACCACCGCGTGTGGTAGACAAGCTCTCCCTGTGTGTGGCTCCGGGGAAGGCCTGCAGCCCTGCAGCCAGCGAGATCACAGGTCTGAGCACAGCTGTGCTGGCAGCGCATGGGCGTCAATGTTTTGATGACAACCTGGCCAACCTGCTCCTAGCCTTCCTGCGGCGCCAGCCACAGCCCTGGTGCCTGGTGGCACACAATGGTGACCGCTACGACTTCCCCCTGCTCCAAGCAGAGCTGGCTATGCTGGGCCTCACCAGTGCTCTGGATGGTGCCTTCTGTGTGGATAGCATCACTGCGCTGAAGGCCCTGGAGCGAGCAAGCAGCCCCTCAGAACACGGCCCAAGGAAGAGCTATAGCCTAGGCAGCATCTACACTCGCCTGTATGGGCAGTCCCCTCCAGACTCGCACACGGCTGAGGGTGATGTCCTGGCCCTGCTCAGCATCTGTCAGTGGAGACCACAGGCCCTGCTGCGGTGGGTGGATGCTCACGCCAGGCCTTTCGGCACCATCAGGCCCATGTATGGGGTCACAGCCTCTGCTAGGACCAAGCCAAGACCATCTGCTGTCACAACCACTGCACACCTGGCCACAACCAGGAACACTAGTCCCAGCCTTGGAGAGAGCAGGGGTACCAAGGATCTTCCTCCAGTGAAGGACCCTGGAGCCCTATCCAGGGAGGGGCTGCTGGCCCCACTGGGTCTGCTGGCCATCCTGACCTTGGCAGTAGCCACACTGTATGGACTATCCCTGGCCACACCTGGGGAGTAGGCCAAGAAGGAAAATCTGACGAATAAAGACCCCCGCTGCCCCATAGCACTGAGTGGTCAATTGGCTCCTACCCTTCTTGGCAGCACAGACCTCTGCCCACACCCAGGGACCTGGGGAGGAGGGCACAGTGTTTGTCCCTCACTTTCCCTAGCAGGATGGTCAACTATCTGAGCCCAGTAAAAGTAGGGAAAACACAGAGAAGCCCAAATGGATGGAAAGAGTACAGCCTGATTCCAATTCCAGCAGCCGAGGCCAGGAAGAAAGGGGGCAGCAGCTCCAAACGATTGCATTTATTATAAACAAGTGTACAGACCCTAGACTCAGAAACACAACAGATTTGAGCTAAGACAGCTCTGGTGAAACAGTAATAGAGGGAGGAGGAACACGAGGTATTCATGTCTGGGCCAGAGCTGCCATCCAGGGCCCCACACCCCACCTTTGGTCCAGATGGCCCATTGGCCCAGGTGTCCCTGCTGCCAGAACACCGTGGACTGGGGTACAGGAGTTGTTGCATATTCCATGAGGCTGGTGTCGGGAAGCAGGGACTCACAGTTGCCAGGTTGTCCATCTCTGAGCCAATTTCCCTCCACAACCCAGGGGTTTCAGTCTCATATCAACTATCATGTTTGAAACAGAAAACAGGCAAAATGTTTGGCTAAAATAAAATGAAAACACTGCAGGGAAGAGAACTGAGTGTGCTGGTGGACAGGAGCCCTGCTCACCTGTGGGAAGGGCAGGGCCAGCAAGGGCAGCAGAGCTCCCTGGGGGCAGCTAGGCTGTGTGTGCATGTGGCCCTCCAGCTGGTCCCAGGGGAGATGCGGGGACAGGGGACAGTCCAGGCAGACAGGTACAGCTGAGTAGGGCTCTGCCTGAGGTGTTCTGGCATCAGGAGGCTGCCTGATCCCCAACAGGCATGACAGGCTCCAGGGAGCAATGGGACATCTGCCCAAAGGATCAAAGTCCAACTTGGCCAGATCCCAAGCTTCGCCTGCATCATGTCCCTGGCTCTGCAACGGGTACCCCCAACTCCGGGGACGAGCCATGGCCTCAAGCAGCAGCTGGCTACGCTGCCGAAACCAGGACACATCTGCATCACACAGAAAGCTGCGCCACCCTGGTGTGACAGGCCCTACTTGGTCACCCTAGGGTAAGCTGGAGAAGAACTCCAGATGTGCCCTGGAGAGGCCCCCACCTCTCAGGGGCCACCTCACAGGGTGCCCCCCACCACCCCATTCTTTGAGTTTGGCTTGAGATTTTAGGAAGCATAATTTCAGGTGAGGAAGAGAACAAAGTCTGGTCCCAGCCCACTCTGGCAAGGATTGTTCCCCACCTTGTCAGCATCAGAGGAAGCCACATATACAGGCAGGACACACACAGCACACATGGGGCGTAAGGAACCGTGCCTGGACACACACAGCACACATGGGGCGTAAGGAACCGCGCCTGCACACCACTCACGCACACACACAACATAACCAAGTGGCAGCCAGAGAGGCCAGGGAATGCTCAGAGGGCCGCCTTCGGGGCATCCATGTAGGCCGGGTTGTAAGGAGGCTGGCTGGCGGGGTAGGGCGCGGCTGCTCCTCCTGAAAGCAGAGAGGACCCTGGTTGGCTGTGAGCATGGTGGGCTGCCGTGTGAGTGGCAGGCAAGCAGAAAGGGGCAGAGGCCTGTTGAGTGATGTAGTTTGGGATGGGTGCCC
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
GGGGCCATTTTCTTTTATCTTCCTGCCTCAGTTCTTCTCCAAGCATATTGGGATGCCTTTTGCATCTATCTGTTGAGTGTGCCTGGCAGAGCCACGGTTTTTCCAGAAATAGCCGTGTCTGAATTGCCTTTGTATCACTTTGTTTGCAGTAGCTGAGGGAGCAGGGCCTGGGTGTGGAAGGGACTGGTTAGTTCCTGCGGACGTTGGGGGAGGAGAGGTGGGACCTGCCCTAGGCCCTGGCACCTTTGGGCCCTCACCAGGAACCTCTCCTTTTTGTCTCAGAGGCAGCCCTGGATGACCTCTGTGCCGCGGAAACCGATGTGGAAGACCCCGAGGTGGAGTGTGGCTGAGGCCCTGAGTGTCCAGCCACATGGTGGCACCAGCACCACTCCTTTCCTTACCACATCAACTGATTAAAGCAGTGACCAGCAGGAACTGCCCAGAGAACTGGCTGGCCTTGTTTCCTGAGTCTGATCTGTTTGGCGGAGTGGGAGGGGTGGAGCAGGACCCGGACCCTGAGTGGCTGGGATCCTTCTTCCTGTCCCTGGCTGTTGCTGAGCCCGTCCCCATGGTAACTGATCTGCCTTGAGGAAGGAGCCCTGCCCTGCCTGTGGAATTGTCCTGAGTCATTGCTTTGGGCTGGGGCCATGGGAAGAAACCATTGTGTGGCAGGGAAGGAGGTGGCTCTTGGCCCAGGCCTAAACCAGGAAAGCCTGGGAAACTGGGACCCACAGGTGGGCATGAAAGGGCCGCAGCAGGGGCTCCCAGCAGTGTGTAAGACCGGGAGCTGGTCTGGCACCACTGCCCTGGTCCTTCCAGCTGCCTGTCACTGGTATGATGGCCCCGGTGCATTGTGCCACCAGCAGGCCACAGCTGTGGATCTTGGAAGGCCTCTGGGGTCCCCCGGGAGCAGGGGAGTGGGTGTGGGGGGGAACGGATGGTGGTGAGAGGGACAGACCAGGCAGGCTGACGAGCAGGGCGGGCCTGGCTCACGTGGGCCTGTAGGCGGGCCCACGCCAAGTTTCACTTCCCGCCACTGCTGCCAGCGAGAGCCGCGGGAGAGTGTGCAGCCGAGTCACTACTGCCTGCCTGCCTGCCTGCTACGGTGAGTGTGGCCCCCACAATGGGATGGCGCAGGGCAGGAGGGCCATGGGTTCCCCCACCCCAGACTAAGGGGGCACTAGGGGAGGGGCCGAGTCATGTGAAGAGGGAGACCCTCTCAGACAGTCGAATGTGCTGGTCCCACTAAGGAAACCACCTCACCCTCTCCAACTTCCTGCCTGAAAATGGGCCCTGGAGCTCGCAGACAGGGCAGGATTGTGCAGGGAAGGCCTGAGATGTGCTTCTGCCCACCCCCTACCCCACTCCCTCCCCTTCGGATCTTAACACTGGGCACTCACACACCCACCCCATGCTCCTCTCCAGGCTCAGCAGCAGGTACGTACCCAACCATGGGCTCGCAGGCCCTGCCCCCGGGGCCCATGCAGACCCTCATCTTTTTCGACATGGAGGCCACTGGCTTGCCCTTCTCCCAGCCCAAGGTCACGGAGCTGTGCCTGCTGGCTGTCCACAGATGTGCCCTGGAGAGCCCCCCCACCTCTCAGGGGCCACCTCCCACAGTTCCTCCACCACCGCGTGTGGTAGACAAGCTCTCCCTGTGTGTGGCTCCGGGGAAGGCCTGCAGCCCTGCAGCCAGCGAGATCACAGGTCTGAGCACAGCTGTGCTGGCAGCGCATGGGCGTCAATGTTTTGATGACAACCTGGCCAACCTGCTCCTAGCCTTCCTGCGGCGCCAGCCACAGCCCTGGTGCCTGGTGGCACACAATGGTGACCGCTACGACTTCCCCCTGCTCCAAGCAGAGCTGGCTATGCTGGGCCTCACCAGTGCTCTGGATGGTGCCTTCTGTGTGGATAGCATCACTGCGCTGAAGGCCCTGGAGCGAGCAAGCAGCCCCTCAGAACACGGCCCAAGGAAGAGCTATAGCCTAGGCAGCATCTACACTCGCCTGTATGGGCAGTCCCCTCCAGACTCGCACACGGCTGAGGGTGATGTCCTGGCCCTGCTCAGCATCTGTCAGTGGAGACCACAGGCCCTGCTGCGGTGGGTGGATGCTCACGCCAGGCCTTTCGGCACCATCAGGCCCATGTATGGGGTCACAGCCTCTGCTAGGACCAAGCCAAGACCATCTGCTGTCACAACCACTGCACACCTGGCCACAACCAGGAACACTAGTCCCAGCCTTGGAGAGAGCAGGGGTACCAAGGATCTTCCTCCAGTGAAGGACCCTGGAGCCCTATCCAGGGAGGGGCTGCTGGCCCCACTGGGTCTGCTGGCCATCCTGACCTTGGCAGTAGCCACACTGTATGGACTATCCCTGGCCACACCTGGGGAGTAGGCCAAGAAGGAAAATCTGACGAATAAAGACCCCCGCTGCCCCATAGCACTGAGTGGTCAATTGGCTCCTACCCTTCTTGGCAGCACAGACCTCTGCCCACACCCAGGGACCTGGGGAGGAGGGCACAGTGTTTGTCCCTCACTTTCCCTAGCAGGATGGTCAACTATCTGAGCCCAGTAAAAGTAGGGAAAACACAGAGAAGCCCAAATGGATGGAAAGAGTACAGCCTGATTCCAATTCCAGCAGCCGAGGCCAGGAAGAAAGGGGGCAGCAGCTCCAAACGATTGCATTTATTATAAACAAGTGTACAGACCCTAGACTCAGAAACACAACAGATTTGAGCTAAGACAGCTCTGGTGAAACAGTAATAGAGGGAGGAGGAACACGAGGTATTCATGTCTGGGCCAGAGCTGCCATCCAGGGCCCCACACCCCACCTTTGGTCCAGATGGCCCATTGGCCCAGGTGTCCCTGCTGCCAGAACACCGTGGACTGGGGTACAGGAGTTGTTGCATATTCCATGAGGCTGGTGTCGGGAAGCAGGGACTCACAGTTGCCAGGTTGTCCATCTCTGAGCCAATTTCCCTCCACAACCCAGGGGTTTCAGTCTCATATCAACTATCATGTTTGAAACAGAAAACAGGCAAAATGTTTGGCTAAAATAAAATGAAAACACTGCAGGGAAGAGAACTGAGTGTGCTGGTGGACAGGAGCCCTGCTCACCTGTGGGAAGGGCAGGGCCAGCAAGGGCAGCAGAGCTCCCTGGGGGCAGCTAGGCTGTGTGTGCATGTGGCCCTCCAGCTGGTCCCAGGGGAGATGCGGGGACAGGGGACAGTCCAGGCAGACAGGTACAGCTGAGTAGGGCTCTGCCTGAGGTGTTCTGGCATCAGGAGGCTGCCTGATCCCCAACAGGCATGACAGGCTCCAGGGAGCAATGGGACATCTGCCCAAAGGATCAAAGTCCAACTTGGCCAGATCCCAAGCTTCGCCTGCATCATGTCCCTGGCTCTGCAACGGGTACCCCCAACTCCGGGGACGAGCCATGGCCTCAAGCAGCAGCTGGCTACGCTGCCGAAACCAGGACACATCTGCATCACACAGAAAGCTGCGCCACCCTGGTGTGACAGGCCCTACTTGGTCACCCTAGGGTAAGCTGGAGAAGAACTCCAGATGTGCCCTGGAGAGGCCCCCACCTCTCAGGGGCCACCTCACAGGGTGCCCCCCACCACCCCATTCTTTGAGTTTGGCTTGAGATTTTAGGAAGCATAATTTCAGGTGAGGAAGAGAACAAAGTCTGGTCCCAGCCCACTCTGGCAAGGATTGTTCCCCACCTTGTCAGCATCAGAGGAAGCCACATATACAGGCAGGACACACACAGCACACATGGGGCGTAAGGAACCGTGCCTGGACACACACAGCACACATGGGGCGTAAGGAACCGCGCCTGCACACCACTCACGCACACACACAACATAACCAAGTGGCAGCCAGAGAGGCCAGGGAATGCTCAGAGGGCCGCCTTCGGGGCATCCATGTAGGCCGGGTTGTAAGGAGGCTGGCTGGCGGGGTAGGGCGCGGCTGCTCCTCCTGAAAGCAGAGAGGACCCTGGTTGGCTGTGAGCATGGTGGGCTGCCGTGTGAGTGGCAGGCAAGCAGAAAGGGGCAGAGGCCTGTTGAGTGATGTAGTTTGGGATGGGTGCCC
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
CCATTTTCTTTTATCTTCCTGCCTCAGTTCTTCTCCAAGCATATTGGGATGCCTTTTGCATCTATCTGTTGAGTGTGCCTGGCAGAGCCACGGTTTTTCCAGAAATAGCCGTGTCTGAATTGCCTTTGTATCACTTTGTTTGCAGTAGCTGAGGGAGCAGGGCCTGGGTGTGGAAGGGACTGGTTAGTTCCTGCGGACGTTGGGGGAGGAGAGGTGGGACCTGCCCTAGGCCCTGGCACCTTTGGGCCCTCACCAGGAACCTCTCCTTTTTGTCTCAGAGGCAGCCCTGGATGACCTCTGTGCCGCGGAAACCGATGTGGAAGACCCCGAGGTGGAGTGTGGCTGAGGCCCTGAGTGTCCAGCCACATGGTGGCACCAGCACCACTCCTTTCCTTACCACATCAACTGATTAAAGCAGTGACCAGCAGGAACTGCCCAGAGAACTGGCTGGCCTTGTTTCCTGAGTCTGATCTGTTTGGCGGAGTGGGAGGGGTGGAGCAGGACCCGGACCCTGAGTGGCTGGGATCCTTCTTCCTGTCCCTGGCTGTTGCTGAGCCCGTCCCCATGGTAACTGATCTGCCTTGAGGAAGGAGCCCTGCCCTGCCTGTGGAATTGTCCTGAGTCATTGCTTTGGGCTGGGGCCATGGGAAGAAACCATTGTGTGGCAGGGAAGGAGGTGGCTCTTGGCCCAGGCCTAAACCAGGAAAGCCTGGGAAACTGGGACCCACAGGTGGGCATGAAAGGGCCGCAGCAGGGGCTCCCAGCAGTGTGTAAGACCGGGAGCTGGTCTGGCACCACTGCCCTGGTCCTTCCAGCTGCCTGTCACTGGTATGATGGCCCCGGTGCATTGTGCCACCAGCAGGCCACAGCTGTGGATCTTGGAAGGCCTCTGGGGTCCCCCGGGAGCAGGGGAGTGGGTGTGGGGGGGAACGGATGGTGGTGAGAGGGACAGACCAGGCAGGCTGACGAGCAGGGCGGGCCTGGCTCACGTGGGCCTGTAGGCGGGCCCACGCCAAGTTTCACTTCCCGCCACTGCTGCCAGCGAGAGCCGCGGGAGAGTGTGCAGCCGAGTCACTACTGCCTGCCTGCCTGCCTGCTACGGTGAGTGTGGCCCCCACAATGGGATGGCGCAGGGCAGGAGGGCCATGGGTTCCCCCACCCCAGACTAAGGGGGCACTAGGGGAGGGGCCGAGTCATGTGAAGAGGGAGACCCTCTCAGACAGTCGAATGTGCTGGTCCCACTAAGGAAACCACCTCACCCTCTCCAACTTCCTGCCTGAAAATGGGCCCTGGAGCTCGCAGACAGGGCAGGATTGTGCAGGGAAGGCCTGAGATGTGCTTCTGCCCACCCCCTACCCCACTCCCTCCCCTTCGGATCTTAACACTGGGCACTCACACACCCACCCCATGCTCCTCTCCAGGCTCAGCAGCAGGTACGTACCCAACCATGGGCTCGCAGGCCCTGCCCCCGGGGCCCATGCAGACCCTCATCTTTTTCGACATGGAGGCCACTGGCTTGCCCTTCTCCCAGCCCAAGGTCACGGAGCTGTGCCTGCTGGCTGTCCACAGATGTGCCCTGGAGAGCCCCCCCACCTCTCAGGGGCCACCTCCCACAGTTCCTCCACCACCGCGTGTGGTAGACAAGCTCTCCCTGTGTGTGGCTCCGGGGAAGGCCTGCAGCCCTGCAGCCAGCGAGATCACAGGTCTGAGCACAGCTGTGCTGGCAGCGCATGGGCGTCAATGTTTTGATGACAACCTGGCCAACCTGCTCCTAGCCTTCCTGCGGCGCCAGCCACAGCCCTGGTGCCTGGTGGCACACAATGGTGACCGCTACGACTTCCCCCTGCTCCAAGCAGAGCTGGCTATGCTGGGCCTCACCAGTGCTCTGGATGGTGCCTTCTGTGTGGATAGCATCACTGCGCTGAAGGCCCTGGAGCGAGCAAGCAGCCCCTCAGAACACGGCCCAAGGAAGAGCTATAGCCTAGGCAGCATCTACACTCGCCTGTATGGGCAGTCCCCTCCAGACTCGCACACGGCTGAGGGTGATGACCTGGCCCTGCTCAGCATCTGTCAGTGGAGACCACAGGCCCTGCTGCGGTGGGTGGATGCTCACGCCAGGCCTTTCGGCACCATCAGGCCCATGTATGGGGTCACAGCCTCTGCTAGGACCAAGCCAAGACCATCTGCTGTCACAACCACTGCACACCTGGCCACAACCAGGAACACTAGTCCCAGCCTTGGAGAGAGCAGGGGTACCAAGGATCTTCCTCCAGTGAAGGACCCTGGAGCCCTATCCAGGGAGGGGCTGCTGGCCCCACTGGGTCTGCTGGCCATCCTGACCTTGGCAGTAGCCACACTGTATGGACTATCCCTGGCCACACCTGGGGAGTAGGCCAAGAAGGAAAATCTGACGAATAAAGACCCCCGCTGCCCCATAGCACTGAGTGGTCAATTGGCTCCTACCCTTCTTGGCAGCACAGACCTCTGCCCACACCCAGGGACCTGGGGAGGAGGGCACAGTGTTTGTCCCTCACTTTCCCTAGCAGGATGGTCAACTATCTGAGCCCAGTAAAAGTAGGGAAAACACAGAGAAGCCCAAATGGATGGAAAGAGTACAGCCTGATTCCAATTCCAGCAGCCGAGGCCAGGAAGAAAGGGGGCAGCAGCTCCAAACGATTGCATTTATTATAAACAAGTGTACAGACCCTAGACTCAGAAACACAACAGATTTGAGCTAAGACAGCTCTGGTGAAACAGTAATAGAGGGAGGAGGAACACGAGGTATTCATGTCTGGGCCAGAGCTGCCATCCAGGGCCCCACACCCCACCTTTGGTCCAGATGGCCCATTGGCCCAGGTGTCCCTGCTGCCAGAACACCGTGGACTGGGGTACAGGAGTTGTTGCATATTCCATGAGGCTGGTGTCGGGAAGCAGGGACTCACAGTTGCCAGGTTGTCCATCTCTGAGCCAATTTCCCTCCACAACCCAGGGGTTTCAGTCTCATATCAACTATCATGTTTGAAACAGAAAACAGGCAAAATGTTTGGCTAAAATAAAATGAAAACACTGCAGGGAAGAGAACTGAGTGTGCTGGTGGACAGGAGCCCTGCTCACCTGTGGGAAGGGCAGGGCCAGCAAGGGCAGCAGAGCTCCCTGGGGGCAGCTAGGCTGTGTGTGCATGTGGCCCTCCAGCTGGTCCCAGGGGAGATGCGGGGACAGGGGACAGTCCAGGCAGACAGGTACAGCTGAGTAGGGCTCTGCCTGAGGTGTTCTGGCATCAGGAGGCTGCCTGATCCCCAACAGGCATGACAGGCTCCAGGGAGCAATGGGACATCTGCCCAAAGGATCAAAGTCCAACTTGGCCAGATCCCAAGCTTCGCCTGCATCATGTCCCTGGCTCTGCAACGGGTACCCCCAACTCCGGGGACGAGCCATGGCCTCAAGCAGCAGCTGGCTACGCTGCCGAAACCAGGACACATCTGCATCACACAGAAAGCTGCGCCACCCTGGTGTGACAGGCCCTACTTGGTCACCCTAGGGTAAGCTGGAGAAGAACTCCAGATGTGCCCTGGAGAGGCCCCCACCTCTCAGGGGCCACCTCACAGGGTGCCCCCCACCACCCCATTCTTTGAGTTTGGCTTGAGATTTTAGGAAGCATAATTTCAGGTGAGGAAGAGAACAAAGTCTGGTCCCAGCCCACTCTGGCAAGGATTGTTCCCCACCTTGTCAGCATCAGAGGAAGCCACATATACAGGCAGGACACACACAGCACACATGGGGCGTAAGGAACCGTGCCTGGACACACACAGCACACATGGGGCGTAAGGAACCGCGCCTGCACACCACTCACGCACACACACAACATAACCAAGTGGCAGCCAGAGAGGCCAGGGAATGCTCAGAGGGCCGCCTTCGGGGCATCCATGTAGGCCGGGTTGTAAGGAGGCTGGCTGGCGGGGTAGGGCGCGGCTGCTCCTCCTGAAAGCAGAGAGGACCCTGGTTGGCTGTGAGCATGGTGGGCTGCCGTGTGAGTGGCAGGCAAGCAGAAAGGGGCAGAGGCCTGTTGAGTGATGTAGTTTGGGATGGGTGCCCGAGG
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
GCGATAGGACAATGCGCGAGCCAGGGTGGCGGGTGGGGCTGCAGTGGCTCTGGGCAGCCCACGGCCATGTGGGAGCAGCTGAGGGGCTCTCTGAGGCCGCAGGTCGGGGAGTGGTCTGGGGAGAATTCTGAGGGCGGAGCTGGAAGGTTGGGATAGGGGTCACTGGGACAACCAGGACTCTGCCCAACATCAGGACCATCAGCAACAGCAGAGCACACCTGGTCATCGTGAGGTCAGGCTGCAAGGAGAAAATGGGCTCAGGGCAGGGGCTCTGGTCAACTGGGGTCCATGGACAGAGACAGATGGCAAGGGCAGAGTGACAGAGCGGGGGATGGAGAGAGAGGAAGACACCGAGAAAGGGGTTAGAGAGGCCAGGCCAGGCCAGAGACAGAGAAGGGGAGACAAGAGGAGAGCCAGAATGAGACAAAGAGGCAGAAAGCAAGACAGAAAAAAAGAAACAAAGAAATCCAGAGACAGAGGGACAGCAAGAGAGGGAGATGAAGGAGATGGAGGCAGAGCAAAATGGAGACTAGAAGAAAAAGACAGACAGAAACCATCCCAGAGACAGACAGCATGATGGAAAGAAAGATTCAGACAGAAACACAGAGTCCACAGGAGGGCAGGCGGTTCTCAGCAGGAGAGCTTGCAGCTGATCCAGGAAACAGAAGGGCAGGAATCGGATCTCAGAGGCAGAAAAGCAGCCAGAGATCCCAGAGTCCCCTGGGTCCAAGCCCTCCATAAAGCCAAACCCCACATCCACTCAACCTCCAAGACCCTTCCCATCCCGACCCAACCCAGTCCTACCGCCACCAGCTGCTTCTGGGGTAAGGCAGCCTGCTGTGGCTGCCTGGGGCTGGGGCCAGGCACTACTGTCCTGTGGTCTGACCCTCTACCCCGCTTCAGGGCCCATTTATCTCCCTCAGCCCCCTGGGGTGGGAGCTGGTACATGCTTCCTGGCATGAGGCAGCCCCCCACCTATGACTCATCCCTCCCGGGGGTGTCCTTAGCCCCCACCCTATCTACTCTTTTCCGGGGACAAGTTGGGGACTGAGAATCACAAGACAGTGACCAGGACTGGGCAGAGGGACTCTGTACCCATGCAGAATAATACCAACCCCCCAAGGAAAACCTTCCCCCTTGAAACCCCCCATCTTCCCAAACAGTCACAACAGGAGCCTTTTAAAACAGCAGCTTTAATGCCCCCCAGAATCAGCACCATGTCATCACAGGCTTGGGTCAAGGGGCGGGTCAGACGCCAGTCACATCCGCTCACTGCCCACAGCCACCCCCCCACAGTGAGTCATCTGCCAGGGTGGCAGGAGCCACAATGGGGGTTTGTCCACAGGGGGGAAGGCTAGACCCACGGGACCAAGTCACTGAAATAACGGACGTGCACACGCACGCTCACGTGCACACAAGCCTCTAGCACCAAGGGGAGGGACAGTGGGGTTCTGCTGAGACCCCGACTCCTCCAGGGGATGCTGAATCTCAGCTCATTATCTGGGCCTCAGTCCTGGGCAGTACCTGGTGAGGACAGGTTGGAAACGGTCGTCAGCCATCTGACCTTCCCCGGAGACGCTCAGGCAGAGGCACCGCCAAGGGGAGGGAGCGGAGGCTACAACAGGAAGTGGGGGCTCTGACCTCAGAGGGGTCCATACTTAGGTCTTTAAAGGAGGGAACATGGAAGGGGACCCTACTGGGGGCTCCACGGCTGGGGCTCTATATTCAGCTCTTTGGTCTGGGCGTCTGCCCCAGGTCCCCTACTGCGAGGGAGCGTCTCCTCCAGGACCCTGACCTGGAACCCTGGCCCAAGGACTCCTCCCCCAGAACCCGATCCAGGCAGGCTCAGTGCCCAGTTCCCCACGGTGGGGGCTCAGCCCATACCTGTCCCCTGGCTCTGGACCACCCGGGGTGGGCAGCGGCGCTCGCAGGCCTCACGGGTCCCAAAACGGTTGGCATTCCCTCCACAGCCACCATAGACAAAAGGGTGACAGGCCTCTGTGCTGCCTGTCACAGCCCGATGGTACCAGCGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGG
GCGATAGGACAATGCGCGAGCCAGGGTGGCGGGTGGGGCTGCAGTGGCTCTGGGCAGCCCACGGCCATGTGGGAGCAGCTGAGGGGCTCTCTGAGGCCGCAGGTCGGGGAGTGGTCTGGGGAGAATTCTGAGGGCGGAGCTGGAAGGTTGGGATAGGGGTCACTGGGACAACCAGGACTCTGCCCAACATCAGGACCATCAGCAACAGCAGAGCACACCTGGTCATCGTGAGGTCAGGCTGCAAGGAGAAAATGGGCTCAGGGCAGGGGCTCTGGTCAACTGGGGTCCATGGACAGAGACAGATGGCAAGGGCAGAGTGACAGAGCGGGGGATGGAGAGAGAGGAAGACACCGAGAAAGGGGTTAGAGAGGCCAGGCCAGGCCAGAGACAGAGAAGGGGAGACAAGAGGAGAGCCAGAATGAGACAAAGAGGCAGAAAGCAAGACAGAAAAAAAGAAACAAAGAAATCCAGAGACAGAGGGACAGCAAGAGAGGGAGATGAAGGAGATGGAGGCAGAGCAAAATGGAGACTAGAAGAAAAAGACAGACAGAAACCATCCCAGAGACAGACAGCATGATGGAAAGAAAGATTCAGACAGAAACACAGAGTCCACAGGAGGGCAGGCGGTTCTCAGCAGGAGAGCTTGCAGCTGATCCAGGAAACAGAAGGGCAGGAATCGGATCTCAGAGGCAGAAAAGCAGCCAGAGATCCCAGAGTCCCCTGGGTCCAAGCCCTCCATAAAGCCAAACCCCACATCCACTCAACCTCCAAGACCCTTCCCATCCCGACCCAACCCAGTCCTACCGCCACCAGCTGCTTCTGGGGTAAGGCAGCCTGCTGTGGCTGCCTGGGGCTGGGGCCAGGCACTACTGTCCTGTGGTCTGACCCTCTACCCCGCTTCAGGGCCCATTTATCTCCCTCAGCCCCCTGGGGTGGGAGCTGGTACATGCTTCCTGGCATGAGGCAGCCCCCCACCTATGACTCATCCCTCCCGGGGGTGTCCTTAGCCCCCACCCTATCTACTCTTTTCCGGGGACAAGTTGGGGACTGAGAATCACAAGACAGTGACCAGGACTGGGCAGAGGGACTCTGTACCCATGCAGAATAATACCAACCCCCCAAGGAAAACCTTCCCCCTTGAAACCCCCCATCTTCCCAAACAGTCACAACAGGAGCCTTTTAAAACAGCAGCTTTAATGCCCCCCAGAATCAGCACCATGTCATCACAGGCTTGGGTCAAGGGGCGGGTCAGACGCCAGTCACATCCGCTCACTGCCCACAGCCACCCCCCCACAGTGAGTCATCTGCCAGGGTGGCAGGAGCCACAATGGGGGTTTGTCCACAGGGGGGAAGGCTAGACCCACGGGACCAAGTCACTGAAATAACGGACGTGCACACGCACGCTCACGTGCACACAAGCCTCTAGCACCAAGGGGAGGGACAGTGGGGTTCTGCTGAGACCCCGACTCCTCCAGGGGATGCTGAATCTCAGCTCATTATCTGGGCCTCAGTCCTGGGCAGTACCTGGTGAGGACAGGTTGGAAACGGTCGTCAGCCATCTGACCTTCCCCGGAGACGCTCAGGCAGAGGCACCGCCAAGGGGAGGGAGCGGAGGCTACAACAGGAAGTGGGGGCTCTGACCTCAGAGGGGTCCATACTTAGGTCTTTAAAGGAGGGAACATGGAAGGGGACCCTACTGGGGGCTCCACGGCTGGGGCTCTATATTCAGCTCTTTGGTCTGGGCGTCTGCCCCAGGTCCCCTACTGCGAGGGAGCGTCTCCTCCAGGACCCTGACCTGGAACCCTGGCCCAAGGACTCCTCCCCCAGAACCCGATCCAGGCAGGCTCAGTGCCCAGTTCCCCACGGTGGGGGCTCAGCCCATACCTGTCCCCTGGCTCTGGACCACCCGGGGTGGGCAGCGGCGCTCGCAGGCCTCACGGGTCCCAAAACGGTTGGCATTCCCTCCACAGCCACCATAGACAAAAGGGTGACAGGCCTCTGTGCTGCCTGTCACAGCCCGATGGTACCAGCGCAGGGTGTAGGCAGTGTAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGG
Task1_train_6752
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.
Pathogenic; Epidermolysis bullosa dystrophica
GAGCACACCTGGTCATCGTGAGGTCAGGCTGCAAGGAGAAAATGGGCTCAGGGCAGGGGCTCTGGTCAACTGGGGTCCATGGACAGAGACAGATGGCAAGGGCAGAGTGACAGAGCGGGGGATGGAGAGAGAGGAAGACACCGAGAAAGGGGTTAGAGAGGCCAGGCCAGGCCAGAGACAGAGAAGGGGAGACAAGAGGAGAGCCAGAATGAGACAAAGAGGCAGAAAGCAAGACAGAAAAAAAGAAACAAAGAAATCCAGAGACAGAGGGACAGCAAGAGAGGGAGATGAAGGAGATGGAGGCAGAGCAAAATGGAGACTAGAAGAAAAAGACAGACAGAAACCATCCCAGAGACAGACAGCATGATGGAAAGAAAGATTCAGACAGAAACACAGAGTCCACAGGAGGGCAGGCGGTTCTCAGCAGGAGAGCTTGCAGCTGATCCAGGAAACAGAAGGGCAGGAATCGGATCTCAGAGGCAGAAAAGCAGCCAGAGATCCCAGAGTCCCCTGGGTCCAAGCCCTCCATAAAGCCAAACCCCACATCCACTCAACCTCCAAGACCCTTCCCATCCCGACCCAACCCAGTCCTACCGCCACCAGCTGCTTCTGGGGTAAGGCAGCCTGCTGTGGCTGCCTGGGGCTGGGGCCAGGCACTACTGTCCTGTGGTCTGACCCTCTACCCCGCTTCAGGGCCCATTTATCTCCCTCAGCCCCCTGGGGTGGGAGCTGGTACATGCTTCCTGGCATGAGGCAGCCCCCCACCTATGACTCATCCCTCCCGGGGGTGTCCTTAGCCCCCACCCTATCTACTCTTTTCCGGGGACAAGTTGGGGACTGAGAATCACAAGACAGTGACCAGGACTGGGCAGAGGGACTCTGTACCCATGCAGAATAATACCAACCCCCCAAGGAAAACCTTCCCCCTTGAAACCCCCCATCTTCCCAAACAGTCACAACAGGAGCCTTTTAAAACAGCAGCTTTAATGCCCCCCAGAATCAGCACCATGTCATCACAGGCTTGGGTCAAGGGGCGGGTCAGACGCCAGTCACATCCGCTCACTGCCCACAGCCACCCCCCCACAGTGAGTCATCTGCCAGGGTGGCAGGAGCCACAATGGGGGTTTGTCCACAGGGGGGAAGGCTAGACCCACGGGACCAAGTCACTGAAATAACGGACGTGCACACGCACGCTCACGTGCACACAAGCCTCTAGCACCAAGGGGAGGGACAGTGGGGTTCTGCTGAGACCCCGACTCCTCCAGGGGATGCTGAATCTCAGCTCATTATCTGGGCCTCAGTCCTGGGCAGTACCTGGTGAGGACAGGTTGGAAACGGTCGTCAGCCATCTGACCTTCCCCGGAGACGCTCAGGCAGAGGCACCGCCAAGGGGAGGGAGCGGAGGCTACAACAGGAAGTGGGGGCTCTGACCTCAGAGGGGTCCATACTTAGGTCTTTAAAGGAGGGAACATGGAAGGGGACCCTACTGGGGGCTCCACGGCTGGGGCTCTATATTCAGCTCTTTGGTCTGGGCGTCTGCCCCAGGTCCCCTACTGCGAGGGAGCGTCTCCTCCAGGACCCTGACCTGGAACCCTGGCCCAAGGACTCCTCCCCCAGAACCCGATCCAGGCAGGCTCAGTGCCCAGTTCCCCACGGTGGGGGCTCAGCCCATACCTGTCCCCTGGCTCTGGACCACCCGGGGTGGGCAGCGGCGCTCGCAGGCCTCACGGGTCCCAAAACGGTTGGCATTCCCTCCACAGCCACCATAGACAAAAGGGTGACAGGCCTCTGTGCTGCCTGTCACAGCCCGATGGTACCAGCGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGA
GAGCACACCTGGTCATCGTGAGGTCAGGCTGCAAGGAGAAAATGGGCTCAGGGCAGGGGCTCTGGTCAACTGGGGTCCATGGACAGAGACAGATGGCAAGGGCAGAGTGACAGAGCGGGGGATGGAGAGAGAGGAAGACACCGAGAAAGGGGTTAGAGAGGCCAGGCCAGGCCAGAGACAGAGAAGGGGAGACAAGAGGAGAGCCAGAATGAGACAAAGAGGCAGAAAGCAAGACAGAAAAAAAGAAACAAAGAAATCCAGAGACAGAGGGACAGCAAGAGAGGGAGATGAAGGAGATGGAGGCAGAGCAAAATGGAGACTAGAAGAAAAAGACAGACAGAAACCATCCCAGAGACAGACAGCATGATGGAAAGAAAGATTCAGACAGAAACACAGAGTCCACAGGAGGGCAGGCGGTTCTCAGCAGGAGAGCTTGCAGCTGATCCAGGAAACAGAAGGGCAGGAATCGGATCTCAGAGGCAGAAAAGCAGCCAGAGATCCCAGAGTCCCCTGGGTCCAAGCCCTCCATAAAGCCAAACCCCACATCCACTCAACCTCCAAGACCCTTCCCATCCCGACCCAACCCAGTCCTACCGCCACCAGCTGCTTCTGGGGTAAGGCAGCCTGCTGTGGCTGCCTGGGGCTGGGGCCAGGCACTACTGTCCTGTGGTCTGACCCTCTACCCCGCTTCAGGGCCCATTTATCTCCCTCAGCCCCCTGGGGTGGGAGCTGGTACATGCTTCCTGGCATGAGGCAGCCCCCCACCTATGACTCATCCCTCCCGGGGGTGTCCTTAGCCCCCACCCTATCTACTCTTTTCCGGGGACAAGTTGGGGACTGAGAATCACAAGACAGTGACCAGGACTGGGCAGAGGGACTCTGTACCCATGCAGAATAATACCAACCCCCCAAGGAAAACCTTCCCCCTTGAAACCCCCCATCTTCCCAAACAGTCACAACAGGAGCCTTTTAAAACAGCAGCTTTAATGCCCCCCAGAATCAGCACCATGTCATCACAGGCTTGGGTCAAGGGGCGGGTCAGACGCCAGTCACATCCGCTCACTGCCCACAGCCACCCCCCCACAGTGAGTCATCTGCCAGGGTGGCAGGAGCCACAATGGGGGTTTGTCCACAGGGGGGAAGGCTAGACCCACGGGACCAAGTCACTGAAATAACGGACGTGCACACGCACGCTCACGTGCACACAAGCCTCTAGCACCAAGGGGAGGGACAGTGGGGTTCTGCTGAGACCCCGACTCCTCCAGGGGATGCTGAATCTCAGCTCATTATCTGGGCCTCAGTCCTGGGCAGTACCTGGTGAGGACAGGTTGGAAACGGTCGTCAGCCATCTGACCTTCCCCGGAGACGCTCAGGCAGAGGCACCGCCAAGGGGAGGGAGCGGAGGCTACAACAGGAAGTGGGGGCTCTGACCTCAGAGGGGTCCATACTTAGGTCTTTAAAGGAGGGAACATGGAAGGGGACCCTACTGGGGGCTCCACGGCTGGGGCTCTATATTCAGCTCTTTGGTCTGGGCGTCTGCCCCAGGTCCCCTACTGCGAGGGAGCGTCTCCTCCAGGACCCTGACCTGGAACCCTGGCCCAAGGACTCCTCCCCCAGAACCCGATCCAGGCAGGCTCAGTGCCCAGTTCCCCACGGTGGGGGCTCAGCCCATACCTGTCCCCTGGCTCTGGACCACCCGGGGTGGGCAGCGGCGCTCGCAGGCCTCACGGGTCCCAAAACGGTTGGCATTCCCTCCACAGCCACCATAGACAAAAGGGTGACAGGCCTCTGTGCTGCCTGTCACAGCCCGATGGTACCAGCGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATGCTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGA
Task1_train_6753
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.
Pathogenic; Recessive dystrophic epidermolysis bullosa
TTTGTCCACAGGGGGGAAGGCTAGACCCACGGGACCAAGTCACTGAAATAACGGACGTGCACACGCACGCTCACGTGCACACAAGCCTCTAGCACCAAGGGGAGGGACAGTGGGGTTCTGCTGAGACCCCGACTCCTCCAGGGGATGCTGAATCTCAGCTCATTATCTGGGCCTCAGTCCTGGGCAGTACCTGGTGAGGACAGGTTGGAAACGGTCGTCAGCCATCTGACCTTCCCCGGAGACGCTCAGGCAGAGGCACCGCCAAGGGGAGGGAGCGGAGGCTACAACAGGAAGTGGGGGCTCTGACCTCAGAGGGGTCCATACTTAGGTCTTTAAAGGAGGGAACATGGAAGGGGACCCTACTGGGGGCTCCACGGCTGGGGCTCTATATTCAGCTCTTTGGTCTGGGCGTCTGCCCCAGGTCCCCTACTGCGAGGGAGCGTCTCCTCCAGGACCCTGACCTGGAACCCTGGCCCAAGGACTCCTCCCCCAGAACCCGATCCAGGCAGGCTCAGTGCCCAGTTCCCCACGGTGGGGGCTCAGCCCATACCTGTCCCCTGGCTCTGGACCACCCGGGGTGGGCAGCGGCGCTCGCAGGCCTCACGGGTCCCAAAACGGTTGGCATTCCCTCCACAGCCACCATAGACAAAAGGGTGACAGGCCTCTGTGCTGCCTGTCACAGCCCGATGGTACCAGCGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGG
TTTGTCCACAGGGGGGAAGGCTAGACCCACGGGACCAAGTCACTGAAATAACGGACGTGCACACGCACGCTCACGTGCACACAAGCCTCTAGCACCAAGGGGAGGGACAGTGGGGTTCTGCTGAGACCCCGACTCCTCCAGGGGATGCTGAATCTCAGCTCATTATCTGGGCCTCAGTCCTGGGCAGTACCTGGTGAGGACAGGTTGGAAACGGTCGTCAGCCATCTGACCTTCCCCGGAGACGCTCAGGCAGAGGCACCGCCAAGGGGAGGGAGCGGAGGCTACAACAGGAAGTGGGGGCTCTGACCTCAGAGGGGTCCATACTTAGGTCTTTAAAGGAGGGAACATGGAAGGGGACCCTACTGGGGGCTCCACGGCTGGGGCTCTATATTCAGCTCTTTGGTCTGGGCGTCTGCCCCAGGTCCCCTACTGCGAGGGAGCGTCTCCTCCAGGACCCTGACCTGGAACCCTGGCCCAAGGACTCCTCCCCCAGAACCCGATCCAGGCAGGCTCAGTGCCCAGTTCCCCACGGTGGGGGCTCAGCCCATACCTGTCCCCTGGCTCTGGACCACCCGGGGTGGGCAGCGGCGCTCGCAGGCCTCACGGGTCCCAAAACGGTTGGCATTCCCTCCACAGCCACCATAGACAAAAGGGTGACAGGCCTCTGTGCTGCCTGTCACAGCCCGATGGTACCAGCGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCTTCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGG
Task1_train_6754
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?
Pathogenic; Pretibial dystrophic epidermolysis bullosa
TTTGTCCACAGGGGGGAAGGCTAGACCCACGGGACCAAGTCACTGAAATAACGGACGTGCACACGCACGCTCACGTGCACACAAGCCTCTAGCACCAAGGGGAGGGACAGTGGGGTTCTGCTGAGACCCCGACTCCTCCAGGGGATGCTGAATCTCAGCTCATTATCTGGGCCTCAGTCCTGGGCAGTACCTGGTGAGGACAGGTTGGAAACGGTCGTCAGCCATCTGACCTTCCCCGGAGACGCTCAGGCAGAGGCACCGCCAAGGGGAGGGAGCGGAGGCTACAACAGGAAGTGGGGGCTCTGACCTCAGAGGGGTCCATACTTAGGTCTTTAAAGGAGGGAACATGGAAGGGGACCCTACTGGGGGCTCCACGGCTGGGGCTCTATATTCAGCTCTTTGGTCTGGGCGTCTGCCCCAGGTCCCCTACTGCGAGGGAGCGTCTCCTCCAGGACCCTGACCTGGAACCCTGGCCCAAGGACTCCTCCCCCAGAACCCGATCCAGGCAGGCTCAGTGCCCAGTTCCCCACGGTGGGGGCTCAGCCCATACCTGTCCCCTGGCTCTGGACCACCCGGGGTGGGCAGCGGCGCTCGCAGGCCTCACGGGTCCCAAAACGGTTGGCATTCCCTCCACAGCCACCATAGACAAAAGGGTGACAGGCCTCTGTGCTGCCTGTCACAGCCCGATGGTACCAGCGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGG
TTTGTCCACAGGGGGGAAGGCTAGACCCACGGGACCAAGTCACTGAAATAACGGACGTGCACACGCACGCTCACGTGCACACAAGCCTCTAGCACCAAGGGGAGGGACAGTGGGGTTCTGCTGAGACCCCGACTCCTCCAGGGGATGCTGAATCTCAGCTCATTATCTGGGCCTCAGTCCTGGGCAGTACCTGGTGAGGACAGGTTGGAAACGGTCGTCAGCCATCTGACCTTCCCCGGAGACGCTCAGGCAGAGGCACCGCCAAGGGGAGGGAGCGGAGGCTACAACAGGAAGTGGGGGCTCTGACCTCAGAGGGGTCCATACTTAGGTCTTTAAAGGAGGGAACATGGAAGGGGACCCTACTGGGGGCTCCACGGCTGGGGCTCTATATTCAGCTCTTTGGTCTGGGCGTCTGCCCCAGGTCCCCTACTGCGAGGGAGCGTCTCCTCCAGGACCCTGACCTGGAACCCTGGCCCAAGGACTCCTCCCCCAGAACCCGATCCAGGCAGGCTCAGTGCCCAGTTCCCCACGGTGGGGGCTCAGCCCATACCTGTCCCCTGGCTCTGGACCACCCGGGGTGGGCAGCGGCGCTCGCAGGCCTCACGGGTCCCAAAACGGTTGGCATTCCCTCCACAGCCACCATAGACAAAAGGGTGACAGGCCTCTGTGCTGCCTGTCACAGCCCGATGGTACCAGCGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCTTCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGG
Task1_train_6755
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.
Pathogenic; Dominant dystrophic epidermolysis bullosa with absence of skin
TTTGTCCACAGGGGGGAAGGCTAGACCCACGGGACCAAGTCACTGAAATAACGGACGTGCACACGCACGCTCACGTGCACACAAGCCTCTAGCACCAAGGGGAGGGACAGTGGGGTTCTGCTGAGACCCCGACTCCTCCAGGGGATGCTGAATCTCAGCTCATTATCTGGGCCTCAGTCCTGGGCAGTACCTGGTGAGGACAGGTTGGAAACGGTCGTCAGCCATCTGACCTTCCCCGGAGACGCTCAGGCAGAGGCACCGCCAAGGGGAGGGAGCGGAGGCTACAACAGGAAGTGGGGGCTCTGACCTCAGAGGGGTCCATACTTAGGTCTTTAAAGGAGGGAACATGGAAGGGGACCCTACTGGGGGCTCCACGGCTGGGGCTCTATATTCAGCTCTTTGGTCTGGGCGTCTGCCCCAGGTCCCCTACTGCGAGGGAGCGTCTCCTCCAGGACCCTGACCTGGAACCCTGGCCCAAGGACTCCTCCCCCAGAACCCGATCCAGGCAGGCTCAGTGCCCAGTTCCCCACGGTGGGGGCTCAGCCCATACCTGTCCCCTGGCTCTGGACCACCCGGGGTGGGCAGCGGCGCTCGCAGGCCTCACGGGTCCCAAAACGGTTGGCATTCCCTCCACAGCCACCATAGACAAAAGGGTGACAGGCCTCTGTGCTGCCTGTCACAGCCCGATGGTACCAGCGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGG
TTTGTCCACAGGGGGGAAGGCTAGACCCACGGGACCAAGTCACTGAAATAACGGACGTGCACACGCACGCTCACGTGCACACAAGCCTCTAGCACCAAGGGGAGGGACAGTGGGGTTCTGCTGAGACCCCGACTCCTCCAGGGGATGCTGAATCTCAGCTCATTATCTGGGCCTCAGTCCTGGGCAGTACCTGGTGAGGACAGGTTGGAAACGGTCGTCAGCCATCTGACCTTCCCCGGAGACGCTCAGGCAGAGGCACCGCCAAGGGGAGGGAGCGGAGGCTACAACAGGAAGTGGGGGCTCTGACCTCAGAGGGGTCCATACTTAGGTCTTTAAAGGAGGGAACATGGAAGGGGACCCTACTGGGGGCTCCACGGCTGGGGCTCTATATTCAGCTCTTTGGTCTGGGCGTCTGCCCCAGGTCCCCTACTGCGAGGGAGCGTCTCCTCCAGGACCCTGACCTGGAACCCTGGCCCAAGGACTCCTCCCCCAGAACCCGATCCAGGCAGGCTCAGTGCCCAGTTCCCCACGGTGGGGGCTCAGCCCATACCTGTCCCCTGGCTCTGGACCACCCGGGGTGGGCAGCGGCGCTCGCAGGCCTCACGGGTCCCAAAACGGTTGGCATTCCCTCCACAGCCACCATAGACAAAAGGGTGACAGGCCTCTGTGCTGCCTGTCACAGCCCGATGGTACCAGCGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCTTCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGG
Task1_train_6756
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.
Pathogenic; Nonsyndromic congenital nail disorder 8
TTTGTCCACAGGGGGGAAGGCTAGACCCACGGGACCAAGTCACTGAAATAACGGACGTGCACACGCACGCTCACGTGCACACAAGCCTCTAGCACCAAGGGGAGGGACAGTGGGGTTCTGCTGAGACCCCGACTCCTCCAGGGGATGCTGAATCTCAGCTCATTATCTGGGCCTCAGTCCTGGGCAGTACCTGGTGAGGACAGGTTGGAAACGGTCGTCAGCCATCTGACCTTCCCCGGAGACGCTCAGGCAGAGGCACCGCCAAGGGGAGGGAGCGGAGGCTACAACAGGAAGTGGGGGCTCTGACCTCAGAGGGGTCCATACTTAGGTCTTTAAAGGAGGGAACATGGAAGGGGACCCTACTGGGGGCTCCACGGCTGGGGCTCTATATTCAGCTCTTTGGTCTGGGCGTCTGCCCCAGGTCCCCTACTGCGAGGGAGCGTCTCCTCCAGGACCCTGACCTGGAACCCTGGCCCAAGGACTCCTCCCCCAGAACCCGATCCAGGCAGGCTCAGTGCCCAGTTCCCCACGGTGGGGGCTCAGCCCATACCTGTCCCCTGGCTCTGGACCACCCGGGGTGGGCAGCGGCGCTCGCAGGCCTCACGGGTCCCAAAACGGTTGGCATTCCCTCCACAGCCACCATAGACAAAAGGGTGACAGGCCTCTGTGCTGCCTGTCACAGCCCGATGGTACCAGCGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGG
TTTGTCCACAGGGGGGAAGGCTAGACCCACGGGACCAAGTCACTGAAATAACGGACGTGCACACGCACGCTCACGTGCACACAAGCCTCTAGCACCAAGGGGAGGGACAGTGGGGTTCTGCTGAGACCCCGACTCCTCCAGGGGATGCTGAATCTCAGCTCATTATCTGGGCCTCAGTCCTGGGCAGTACCTGGTGAGGACAGGTTGGAAACGGTCGTCAGCCATCTGACCTTCCCCGGAGACGCTCAGGCAGAGGCACCGCCAAGGGGAGGGAGCGGAGGCTACAACAGGAAGTGGGGGCTCTGACCTCAGAGGGGTCCATACTTAGGTCTTTAAAGGAGGGAACATGGAAGGGGACCCTACTGGGGGCTCCACGGCTGGGGCTCTATATTCAGCTCTTTGGTCTGGGCGTCTGCCCCAGGTCCCCTACTGCGAGGGAGCGTCTCCTCCAGGACCCTGACCTGGAACCCTGGCCCAAGGACTCCTCCCCCAGAACCCGATCCAGGCAGGCTCAGTGCCCAGTTCCCCACGGTGGGGGCTCAGCCCATACCTGTCCCCTGGCTCTGGACCACCCGGGGTGGGCAGCGGCGCTCGCAGGCCTCACGGGTCCCAAAACGGTTGGCATTCCCTCCACAGCCACCATAGACAAAAGGGTGACAGGCCTCTGTGCTGCCTGTCACAGCCCGATGGTACCAGCGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCTTCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGG
Task1_train_6757
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; Epidermolysis bullosa pruriginosa
TTTGTCCACAGGGGGGAAGGCTAGACCCACGGGACCAAGTCACTGAAATAACGGACGTGCACACGCACGCTCACGTGCACACAAGCCTCTAGCACCAAGGGGAGGGACAGTGGGGTTCTGCTGAGACCCCGACTCCTCCAGGGGATGCTGAATCTCAGCTCATTATCTGGGCCTCAGTCCTGGGCAGTACCTGGTGAGGACAGGTTGGAAACGGTCGTCAGCCATCTGACCTTCCCCGGAGACGCTCAGGCAGAGGCACCGCCAAGGGGAGGGAGCGGAGGCTACAACAGGAAGTGGGGGCTCTGACCTCAGAGGGGTCCATACTTAGGTCTTTAAAGGAGGGAACATGGAAGGGGACCCTACTGGGGGCTCCACGGCTGGGGCTCTATATTCAGCTCTTTGGTCTGGGCGTCTGCCCCAGGTCCCCTACTGCGAGGGAGCGTCTCCTCCAGGACCCTGACCTGGAACCCTGGCCCAAGGACTCCTCCCCCAGAACCCGATCCAGGCAGGCTCAGTGCCCAGTTCCCCACGGTGGGGGCTCAGCCCATACCTGTCCCCTGGCTCTGGACCACCCGGGGTGGGCAGCGGCGCTCGCAGGCCTCACGGGTCCCAAAACGGTTGGCATTCCCTCCACAGCCACCATAGACAAAAGGGTGACAGGCCTCTGTGCTGCCTGTCACAGCCCGATGGTACCAGCGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGG
TTTGTCCACAGGGGGGAAGGCTAGACCCACGGGACCAAGTCACTGAAATAACGGACGTGCACACGCACGCTCACGTGCACACAAGCCTCTAGCACCAAGGGGAGGGACAGTGGGGTTCTGCTGAGACCCCGACTCCTCCAGGGGATGCTGAATCTCAGCTCATTATCTGGGCCTCAGTCCTGGGCAGTACCTGGTGAGGACAGGTTGGAAACGGTCGTCAGCCATCTGACCTTCCCCGGAGACGCTCAGGCAGAGGCACCGCCAAGGGGAGGGAGCGGAGGCTACAACAGGAAGTGGGGGCTCTGACCTCAGAGGGGTCCATACTTAGGTCTTTAAAGGAGGGAACATGGAAGGGGACCCTACTGGGGGCTCCACGGCTGGGGCTCTATATTCAGCTCTTTGGTCTGGGCGTCTGCCCCAGGTCCCCTACTGCGAGGGAGCGTCTCCTCCAGGACCCTGACCTGGAACCCTGGCCCAAGGACTCCTCCCCCAGAACCCGATCCAGGCAGGCTCAGTGCCCAGTTCCCCACGGTGGGGGCTCAGCCCATACCTGTCCCCTGGCTCTGGACCACCCGGGGTGGGCAGCGGCGCTCGCAGGCCTCACGGGTCCCAAAACGGTTGGCATTCCCTCCACAGCCACCATAGACAAAAGGGTGACAGGCCTCTGTGCTGCCTGTCACAGCCCGATGGTACCAGCGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCTTCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGG
Task1_train_6758
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.
Pathogenic; Recessive dystrophic epidermolysis bullosa
TTTGTCCACAGGGGGGAAGGCTAGACCCACGGGACCAAGTCACTGAAATAACGGACGTGCACACGCACGCTCACGTGCACACAAGCCTCTAGCACCAAGGGGAGGGACAGTGGGGTTCTGCTGAGACCCCGACTCCTCCAGGGGATGCTGAATCTCAGCTCATTATCTGGGCCTCAGTCCTGGGCAGTACCTGGTGAGGACAGGTTGGAAACGGTCGTCAGCCATCTGACCTTCCCCGGAGACGCTCAGGCAGAGGCACCGCCAAGGGGAGGGAGCGGAGGCTACAACAGGAAGTGGGGGCTCTGACCTCAGAGGGGTCCATACTTAGGTCTTTAAAGGAGGGAACATGGAAGGGGACCCTACTGGGGGCTCCACGGCTGGGGCTCTATATTCAGCTCTTTGGTCTGGGCGTCTGCCCCAGGTCCCCTACTGCGAGGGAGCGTCTCCTCCAGGACCCTGACCTGGAACCCTGGCCCAAGGACTCCTCCCCCAGAACCCGATCCAGGCAGGCTCAGTGCCCAGTTCCCCACGGTGGGGGCTCAGCCCATACCTGTCCCCTGGCTCTGGACCACCCGGGGTGGGCAGCGGCGCTCGCAGGCCTCACGGGTCCCAAAACGGTTGGCATTCCCTCCACAGCCACCATAGACAAAAGGGTGACAGGCCTCTGTGCTGCCTGTCACAGCCCGATGGTACCAGCGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGG
TTTGTCCACAGGGGGGAAGGCTAGACCCACGGGACCAAGTCACTGAAATAACGGACGTGCACACGCACGCTCACGTGCACACAAGCCTCTAGCACCAAGGGGAGGGACAGTGGGGTTCTGCTGAGACCCCGACTCCTCCAGGGGATGCTGAATCTCAGCTCATTATCTGGGCCTCAGTCCTGGGCAGTACCTGGTGAGGACAGGTTGGAAACGGTCGTCAGCCATCTGACCTTCCCCGGAGACGCTCAGGCAGAGGCACCGCCAAGGGGAGGGAGCGGAGGCTACAACAGGAAGTGGGGGCTCTGACCTCAGAGGGGTCCATACTTAGGTCTTTAAAGGAGGGAACATGGAAGGGGACCCTACTGGGGGCTCCACGGCTGGGGCTCTATATTCAGCTCTTTGGTCTGGGCGTCTGCCCCAGGTCCCCTACTGCGAGGGAGCGTCTCCTCCAGGACCCTGACCTGGAACCCTGGCCCAAGGACTCCTCCCCCAGAACCCGATCCAGGCAGGCTCAGTGCCCAGTTCCCCACGGTGGGGGCTCAGCCCATACCTGTCCCCTGGCTCTGGACCACCCGGGGTGGGCAGCGGCGCTCGCAGGCCTCACGGGTCCCAAAACGGTTGGCATTCCCTCCACAGCCACCATAGACAAAAGGGTGACAGGCCTCTGTGCTGCCTGTCACAGCCCGATGGTACCAGCGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCTTCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGG
Task1_train_6759
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?
Pathogenic; Generalized dominant dystrophic epidermolysis bullosa
TTTGTCCACAGGGGGGAAGGCTAGACCCACGGGACCAAGTCACTGAAATAACGGACGTGCACACGCACGCTCACGTGCACACAAGCCTCTAGCACCAAGGGGAGGGACAGTGGGGTTCTGCTGAGACCCCGACTCCTCCAGGGGATGCTGAATCTCAGCTCATTATCTGGGCCTCAGTCCTGGGCAGTACCTGGTGAGGACAGGTTGGAAACGGTCGTCAGCCATCTGACCTTCCCCGGAGACGCTCAGGCAGAGGCACCGCCAAGGGGAGGGAGCGGAGGCTACAACAGGAAGTGGGGGCTCTGACCTCAGAGGGGTCCATACTTAGGTCTTTAAAGGAGGGAACATGGAAGGGGACCCTACTGGGGGCTCCACGGCTGGGGCTCTATATTCAGCTCTTTGGTCTGGGCGTCTGCCCCAGGTCCCCTACTGCGAGGGAGCGTCTCCTCCAGGACCCTGACCTGGAACCCTGGCCCAAGGACTCCTCCCCCAGAACCCGATCCAGGCAGGCTCAGTGCCCAGTTCCCCACGGTGGGGGCTCAGCCCATACCTGTCCCCTGGCTCTGGACCACCCGGGGTGGGCAGCGGCGCTCGCAGGCCTCACGGGTCCCAAAACGGTTGGCATTCCCTCCACAGCCACCATAGACAAAAGGGTGACAGGCCTCTGTGCTGCCTGTCACAGCCCGATGGTACCAGCGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGG
TTTGTCCACAGGGGGGAAGGCTAGACCCACGGGACCAAGTCACTGAAATAACGGACGTGCACACGCACGCTCACGTGCACACAAGCCTCTAGCACCAAGGGGAGGGACAGTGGGGTTCTGCTGAGACCCCGACTCCTCCAGGGGATGCTGAATCTCAGCTCATTATCTGGGCCTCAGTCCTGGGCAGTACCTGGTGAGGACAGGTTGGAAACGGTCGTCAGCCATCTGACCTTCCCCGGAGACGCTCAGGCAGAGGCACCGCCAAGGGGAGGGAGCGGAGGCTACAACAGGAAGTGGGGGCTCTGACCTCAGAGGGGTCCATACTTAGGTCTTTAAAGGAGGGAACATGGAAGGGGACCCTACTGGGGGCTCCACGGCTGGGGCTCTATATTCAGCTCTTTGGTCTGGGCGTCTGCCCCAGGTCCCCTACTGCGAGGGAGCGTCTCCTCCAGGACCCTGACCTGGAACCCTGGCCCAAGGACTCCTCCCCCAGAACCCGATCCAGGCAGGCTCAGTGCCCAGTTCCCCACGGTGGGGGCTCAGCCCATACCTGTCCCCTGGCTCTGGACCACCCGGGGTGGGCAGCGGCGCTCGCAGGCCTCACGGGTCCCAAAACGGTTGGCATTCCCTCCACAGCCACCATAGACAAAAGGGTGACAGGCCTCTGTGCTGCCTGTCACAGCCCGATGGTACCAGCGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCTTCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGG
Task1_train_6760
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?
Pathogenic; Transient bullous dermolysis of the newborn
TTTGTCCACAGGGGGGAAGGCTAGACCCACGGGACCAAGTCACTGAAATAACGGACGTGCACACGCACGCTCACGTGCACACAAGCCTCTAGCACCAAGGGGAGGGACAGTGGGGTTCTGCTGAGACCCCGACTCCTCCAGGGGATGCTGAATCTCAGCTCATTATCTGGGCCTCAGTCCTGGGCAGTACCTGGTGAGGACAGGTTGGAAACGGTCGTCAGCCATCTGACCTTCCCCGGAGACGCTCAGGCAGAGGCACCGCCAAGGGGAGGGAGCGGAGGCTACAACAGGAAGTGGGGGCTCTGACCTCAGAGGGGTCCATACTTAGGTCTTTAAAGGAGGGAACATGGAAGGGGACCCTACTGGGGGCTCCACGGCTGGGGCTCTATATTCAGCTCTTTGGTCTGGGCGTCTGCCCCAGGTCCCCTACTGCGAGGGAGCGTCTCCTCCAGGACCCTGACCTGGAACCCTGGCCCAAGGACTCCTCCCCCAGAACCCGATCCAGGCAGGCTCAGTGCCCAGTTCCCCACGGTGGGGGCTCAGCCCATACCTGTCCCCTGGCTCTGGACCACCCGGGGTGGGCAGCGGCGCTCGCAGGCCTCACGGGTCCCAAAACGGTTGGCATTCCCTCCACAGCCACCATAGACAAAAGGGTGACAGGCCTCTGTGCTGCCTGTCACAGCCCGATGGTACCAGCGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGG
TTTGTCCACAGGGGGGAAGGCTAGACCCACGGGACCAAGTCACTGAAATAACGGACGTGCACACGCACGCTCACGTGCACACAAGCCTCTAGCACCAAGGGGAGGGACAGTGGGGTTCTGCTGAGACCCCGACTCCTCCAGGGGATGCTGAATCTCAGCTCATTATCTGGGCCTCAGTCCTGGGCAGTACCTGGTGAGGACAGGTTGGAAACGGTCGTCAGCCATCTGACCTTCCCCGGAGACGCTCAGGCAGAGGCACCGCCAAGGGGAGGGAGCGGAGGCTACAACAGGAAGTGGGGGCTCTGACCTCAGAGGGGTCCATACTTAGGTCTTTAAAGGAGGGAACATGGAAGGGGACCCTACTGGGGGCTCCACGGCTGGGGCTCTATATTCAGCTCTTTGGTCTGGGCGTCTGCCCCAGGTCCCCTACTGCGAGGGAGCGTCTCCTCCAGGACCCTGACCTGGAACCCTGGCCCAAGGACTCCTCCCCCAGAACCCGATCCAGGCAGGCTCAGTGCCCAGTTCCCCACGGTGGGGGCTCAGCCCATACCTGTCCCCTGGCTCTGGACCACCCGGGGTGGGCAGCGGCGCTCGCAGGCCTCACGGGTCCCAAAACGGTTGGCATTCCCTCCACAGCCACCATAGACAAAAGGGTGACAGGCCTCTGTGCTGCCTGTCACAGCCCGATGGTACCAGCGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCTTCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGG
Task1_train_6761
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?
Pathogenic; Recessive dystrophic epidermolysis bullosa
AGGGGAGGGAGCGGAGGCTACAACAGGAAGTGGGGGCTCTGACCTCAGAGGGGTCCATACTTAGGTCTTTAAAGGAGGGAACATGGAAGGGGACCCTACTGGGGGCTCCACGGCTGGGGCTCTATATTCAGCTCTTTGGTCTGGGCGTCTGCCCCAGGTCCCCTACTGCGAGGGAGCGTCTCCTCCAGGACCCTGACCTGGAACCCTGGCCCAAGGACTCCTCCCCCAGAACCCGATCCAGGCAGGCTCAGTGCCCAGTTCCCCACGGTGGGGGCTCAGCCCATACCTGTCCCCTGGCTCTGGACCACCCGGGGTGGGCAGCGGCGCTCGCAGGCCTCACGGGTCCCAAAACGGTTGGCATTCCCTCCACAGCCACCATAGACAAAAGGGTGACAGGCCTCTGTGCTGCCTGTCACAGCCCGATGGTACCAGCGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCAT
AGGGGAGGGAGCGGAGGCTACAACAGGAAGTGGGGGCTCTGACCTCAGAGGGGTCCATACTTAGGTCTTTAAAGGAGGGAACATGGAAGGGGACCCTACTGGGGGCTCCACGGCTGGGGCTCTATATTCAGCTCTTTGGTCTGGGCGTCTGCCCCAGGTCCCCTACTGCGAGGGAGCGTCTCCTCCAGGACCCTGACCTGGAACCCTGGCCCAAGGACTCCTCCCCCAGAACCCGATCCAGGCAGGCTCAGTGCCCAGTTCCCCACGGTGGGGGCTCAGCCCATACCTGTCCCCTGGCTCTGGACCACCCGGGGTGGGCAGCGGCGCTCGCAGGCCTCACGGGTCCCAAAACGGTTGGCATTCCCTCCACAGCCACCATAGACAAAAGGGTGACAGGCCTCTGTGCTGCCTGTCACAGCCCGATGGTACCAGCGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACTGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCAT
Task1_train_6762
A sequence alteration has been identified in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is it disease-inducing or harmless?
Pathogenic; Recessive dystrophic epidermolysis bullosa
AGCGTCTCCTCCAGGACCCTGACCTGGAACCCTGGCCCAAGGACTCCTCCCCCAGAACCCGATCCAGGCAGGCTCAGTGCCCAGTTCCCCACGGTGGGGGCTCAGCCCATACCTGTCCCCTGGCTCTGGACCACCCGGGGTGGGCAGCGGCGCTCGCAGGCCTCACGGGTCCCAAAACGGTTGGCATTCCCTCCACAGCCACCATAGACAAAAGGGTGACAGGCCTCTGTGCTGCCTGTCACAGCCCGATGGTACCAGCGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGG
AGCGTCTCCTCCAGGACCCTGACCTGGAACCCTGGCCCAAGGACTCCTCCCCCAGAACCCGATCCAGGCAGGCTCAGTGCCCAGTTCCCCACGGTGGGGGCTCAGCCCATACCTGTCCCCTGGCTCTGGACCACCCGGGGTGGGCAGCGGCGCTCGCAGGCCTCACGGGTCCCAAAACGGTTGGCATTCCCTCCACAGCCACCATAGACAAAAGGGTGACAGGCCTCTGTGCTGCCTGTCACAGCCCGATGGTACCAGCGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCTGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGG
Task1_train_6763
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.
Pathogenic; Epidermolysis bullosa dystrophica
AGACAAAAGGGTGACAGGCCTCTGTGCTGCCTGTCACAGCCCGATGGTACCAGCGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAG
AGACAAAAGGGTGACAGGCCTCTGTGCTGCCTGTCACAGCCCGATGGTACCAGCGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCGTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAG
Task1_train_6764
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.
Pathogenic; Epidermolysis bullosa dystrophica
TGGTACCAGCGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTG
TGGTACCAGCGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGAACAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTG
Task1_train_6765
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?
Pathogenic; COL7A1-related disorder
TGGTACCAGCGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTG
TGGTACCAGCGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGAACAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTG
Task1_train_6766
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?
Pathogenic; not provided
TGGTACCAGCGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTG
TGGTACCAGCGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGATCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTG
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.
Pathogenic; not specified
CGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACA
CGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGGCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACA
Task1_train_6768
This variant affects gene COL7A1 (collagen type VII alpha 1 chain) located on Chromosome 3. Evaluate its biological effect and specify any disease association.
Pathogenic; Epidermolysis bullosa pruriginosa
CGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACA
CGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGTCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACA
Task1_train_6769
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?
Pathogenic; Recessive dystrophic epidermolysis bullosa
CAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCAC
CAGGAGCCCTCATCCAGTGGCAGGGAACAGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGTCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCAC
Task1_train_6770
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?
Pathogenic; not provided
AGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCC
AGGGGTCTGGGCCAATGGGGTCAAGTCAGCAGGGTTTGTGGGAATCAGAGAGGGTTGAAAGGTCAGGGGGAGGTCAGCAGGGCTCAGCCCTGCCTGCCCCTCCCCAGACCCCGCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCTCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCC
Task1_train_6771
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?
Pathogenic; not provided
GCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCT
GCTGGCAGCCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCACTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCT
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?
Pathogenic; COL7A1-related disorder
GAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAG
GAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCCTCCTCTGCATGAGAGACGCGGAGCACAGGCACAGCATGGAGCTGGGAGCCGGCAGTGTCTGCAGCATAACTAGGGAGGGGTCCTGGAGCCAAGAGCAGGGGCCTCAGGGCCCTGAAGTCACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCTGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAG
Task1_train_6773
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?
Pathogenic; Recessive dystrophic epidermolysis bullosa
ACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCA
ACCATGGGCAGCCATCCCAGCCAACCCCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACTGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCA
Task1_train_6774
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?
Pathogenic; not provided
CCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGG
CCCCTGAGAGGACCCCAGTTGATAGGCAGGGCAGGGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCTCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGG
Task1_train_6775
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.
Pathogenic; Pretibial dystrophic epidermolysis bullosa
ATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGT
ATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCTGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGT
Task1_train_6776
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.
Pathogenic; Dominant dystrophic epidermolysis bullosa with absence of skin
ATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGT
ATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCTGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGT
Task1_train_6777
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?
Pathogenic; Nonsyndromic congenital nail disorder 8
ATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGT
ATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCTGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGT
Task1_train_6778
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?
Pathogenic; Epidermolysis bullosa pruriginosa
ATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGT
ATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCTGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGT
Task1_train_6779
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.
Pathogenic; Recessive dystrophic epidermolysis bullosa
ATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGT
ATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCTGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGT
Task1_train_6780
A sequence alteration has been identified in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is it disease-inducing or harmless?
Pathogenic; Generalized dominant dystrophic epidermolysis bullosa
ATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGT
ATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCTGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGT
Task1_train_6781
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?
Pathogenic; Transient bullous dermolysis of the newborn
ATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGT
ATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCTGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGT
Task1_train_6782
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.
Pathogenic; Recessive dystrophic epidermolysis bullosa
ATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGT
ATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCTGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGT
Task1_train_6783
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.
Pathogenic; Epidermolysis bullosa dystrophica
TGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAG
TGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCGCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAG
Task1_train_6784
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.
Pathogenic; not specified
AAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTG
AAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACACAGAAACAGGCAGGTGGTGCAGACAGAGACGGGAAGAGACAGCTTCACTCTGATGCCCCTCCCACCGGGTCCAGGTCAGGCCCAAGGGGACCAGCTCTGCTCCCACCATCATCCCACTCCCCACACAGCCAAGCTGGACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCATTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTG
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
GACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGTCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTC
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.
Pathogenic; Pretibial dystrophic epidermolysis bullosa
ACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCG
ACATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCACCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCG
Task1_train_6787
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?
Pathogenic; Pretibial dystrophic epidermolysis bullosa
ATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGG
ATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCTGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGG
Task1_train_6788
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.
Pathogenic; Transient bullous dermolysis of the newborn
ATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGG
ATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCTGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGG
Task1_train_6789
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?
Pathogenic; Nonsyndromic congenital nail disorder 8
ATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGG
ATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCTGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGG
Task1_train_6790
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?
Pathogenic; Generalized dominant dystrophic epidermolysis bullosa
ATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGG
ATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCTGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGG
Task1_train_6791
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?
Pathogenic; Recessive dystrophic epidermolysis bullosa
ATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGG
ATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCTGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGG
Task1_train_6792
A sequence alteration has been identified in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is it disease-inducing or harmless?
Pathogenic; Dominant dystrophic epidermolysis bullosa with absence of skin
ATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGG
ATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCTGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGG
Task1_train_6793
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.
Pathogenic; Epidermolysis bullosa pruriginosa
ATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGG
ATCTGAGAGCACTGCATGGCAATCCTCATCTGCCTGTGTGTCTCCCTCCACTGGGGACACATGTCATGTGTCAGTCCTGCAGCACATGTGTCCTTCTGTGTATCCATCCATCCCCCCATCTTCTTGACTGCTTGCCCTGTAAGTTCTAGGGGCCTGCCTGCCCTTGCCTAGGGTGCTGGGGTGGAGTGGGAGACTGCGGGCTGGGCACCACTCACCACAGTGCTGACTCATCTCTTGGCGCACAAAGCCCCGGATGTCATCCTCCTGGGAGCAGAAGACCACAGGGACCATAAAGAACCCATGGCCCACAGGAAGGACATAGGGCACATAATACAGGGACTATGGTGAGACTGCATGGAGCCAGGGCCCAGGGGTCAGGGTGCTGGGTGAGGGAGGTAGGGCCCCAGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCTGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGG
Task1_train_6794
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.
Pathogenic; Epidermolysis bullosa dystrophica
CAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCC
CAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGATCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCC
Task1_train_6795
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.
Pathogenic; Recessive dystrophic epidermolysis bullosa
AAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCA
AAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACACAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCA
Task1_train_6796
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.
Pathogenic; Pretibial dystrophic epidermolysis bullosa
AAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCA
AAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACACAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCA
Task1_train_6797
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.
Pathogenic; Dominant dystrophic epidermolysis bullosa with absence of skin
AAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCA
AAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACACAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCA
Task1_train_6798
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?
Pathogenic; Transient bullous dermolysis of the newborn
AAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCA
AAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACACAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCA
Task1_train_6799
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?
Pathogenic; Nonsyndromic congenital nail disorder 8
AAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCA
AAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTCACCCGCTCCCCTTTCTCGCCCTGGTCACCCTTGGGGCCTGGCTGCCCGTCAAAGCCTCGGTCACCCTGGGAACAGAAGAAGCATGAGAGACCTTCTGCCCTGACCTCCCTCAGCTCTGGAACCTCCCTGAACTCCCATGAGCTCCCTGGCCTAATGCCCAAACCTTCTGTAACCCAAGCACCTGTGAGCCAACCAGATGTGATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGTGCCCTAATATCTGACCCCAGGTCCCTCGCCCTTCAACATTAGGCCTTCCTGACCAGAAAAAAACCAATCTTGTTTCTTTCCTACCTTGAGGCCCCGGGGACCCATGAAGCCAACATCTCCTTTTTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACACAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACGGGGTCCCTCTCGCACCCAGGGGAGACCCAGTCCACACGTGGGCCCACTCACCATGTCCCCCTTGGCACCCCGTGGGCCTGGAGGCCCCAGGATCACAGCTGAGTCTCCCTGAGGGGGCAGGCAGGAATCAGAGGAGTCGGGAGCACCCTGGCCCCTGCCCTGCCCTCCCCATGCCCACACTCACCTTGTCACCCTTTAGTCCTGCACTCCCAACATCACCCTATTGGGCAAAAGAGTGTGAGTCCCGCCCAAACTGGGGAGGCCCCGCACCTGAATTCTAATATCATACAAGATCCACTCACCCCCCCACTCATGCCAGGACCTTCCCCACGTTCCTACCTTCTCCCCACGCTCTCCCCTGCTGCCAGGGGGCCCCTGTGTGAGAGAAGGTGACCGTGAGCTACAGGAACCAGGGCAGTGGAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTCCCCACGCTCGCCTCGGGGCCCAGGCAGCCCTACTCCAGGGTCTCCCTGGAGACCAACAGGACACCGGGGATCAGTGAGGGGAATCAGTGGGGGACGCAGGGTCATGGGAGGTCAGTGGAGGCTGAAGGGGGTGACCAGGGCACAAGAGAGAGTCAGCAGCACTTGTCCCACCTACCTTGTCTCCTTTGAGTCCAGAGGCCCCAGGTGGTCCCTGTAGGTCAGAGTGAGGTGAGGGTCCTGTGGCTCTCAAAGCGCCTCCCCCAACACCCCACAGTGTGGCCCGCCCCATCCTAAGTCCTCACGAGGACAGGAAATCAAATACGTGGGGCTTTAGGGCACCTCTACTCACCACTGACCCCGGTGGTCCAGGTGGCCCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCA