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_20500
|
Chromosome 15 houses a mutation in gene SLC12A6 (solute carrier family 12 member 6). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
|
Pathogenic; Charcot-Marie-Tooth disease, axonal, IIa 2II
|
ATTTCCCAGTCTTGTTTCATGTATTATTCTAGATTTTTTGTCTTGTTTTGCTGGAATATCTCAAAGAAAATACCATGCATTATGACCGTGTACTAATCAAAAAAGAGGAGAAGCCCCAAAGGTGAACCTGAGACAAAATGGAATTTCCCAAATTGAGATATAACCAGAATGTCACCTTTAGAAATTTTATGCCCCTAAAAAGGACCTTCAGCTGTATTACAGTCCCTAGATAAGCAGATTAAAAGTTTAAGATGGAATCTACTTCTGCCATCATGCAGCATAGCATAGAAGAAATACTGAATGGGGAGTCAGGAAATCACAGTTCATCTTCTTGCTCTGCCATTAATTAACTTTGAGGTAAGTCATTAAACCTACTGGAACTGTCTTTTTGTCTTGAAAAATCTTTTTTTCTGTAATCTGGTTAAATCAACATAGAACCGATGAGTTTGATCCTCAGATAATCCAGATGACTCTTCAAGATAATTCTGTAACAAGACTACAAATAACACTGAGTGCCAGCTAGTCCCTATGCCACTAGTCAAAGGGAAAAGTGAGCCTGTGAGTCACAGATGTGCACAAATCCATTACTACTTCAAAAAACATACTTTAAAGTATTCGCACTAGGGAGTTGAAGGAGGTGGTGAATGATGAGAGAGTACTTAATGGGTACAAAGTACATTATTTGGGTAATGGATAAAAGCCCTGACCTAGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACGTCGGGAGGCCAAGGTGGGCCTTATAAAGGTTGCTGGCAATAACTACACTGTCTGCAAAGCCCTTTATGAATAGTTCAAAATGTGTATAATAAAAAAAGATTATGTACAATTATCAGGGAGAAAAAAATCTAATATCTGAACCTAAATGATGGTTACAGCTACTAGTTCTATGCTTAGGACATAAGAAAGAGGATGAACGGGACATAGTTTGCTGGTAGGCTTCCTGCCTAGATGAGGAAGGAAGTCTAACTGGGCTTATCTGAGAGGGAAAATCTCAGAGAGACTCTATGAAATTCTGACTTAAAATTATCACACCACCAGATATTTTCAATTACTACCCAATAAGGATGGCTAGGCAGAGAGACAGACACGTACGGGAAGTGTGGAGGAGCAAAAGAAGACTTGATGGCTCCAGCATAGATGGCCAAGATGGACACAATGACACAGGCCAGGAAAAGTGAGGCAAACTTGTTCACATAGCGTACGCCGATAAATACCACTAATACCATAAGGACCAAGAAAGCTGTGCCGTAGACACGCATGTTATTTAGCATGGCTGCTGATTCCTTGAGTGCGTCATCACTGTGAAAGATGGCAGCTCGGGGGACGATATAGACCTGTTAGGTAAAAATAAAGGAGAAAATTAGGTTATTTCAAAATAATTAAGTAAAAAGGCTGTATTCGTTTGCATTTACTTTCACAAAAGAAAGCAAAGCTGAGAGAGAAAATGACTGGGGAATTAGCCTAGTTTCTAATAGGATCTGAAATGCCTTCAGAAATGGGATGTCATGGATTTTTTTTTTTTTTTTGGTCTACATGCTGTTCTGAATAACTACATTTCCAAATGGAAAGAAAGGAAAGGAACAAATTATTAATTTTATTCATAGGGTTATATAAAGTAATTATAATGATGATCTTTAACCCTGACTCTACTATCACTACTTTAAATAGTAAACAATATGTCTCAGTGAAGAGAGATATGAGAAGCATTTTATTTCATAGGGATGAAGATATCAAAAAAGATAAACTTTATTTTACTTTTTCCCCATTGGACTTGAACCTCTTGGATGAGGTGGCAGAGTGGTGGCAATCAGGTAGAAAGGAAGGGACAGGCAGGCAAACAGAATTTCAACCTTTCCACCTCATATTCATGTAAGAGGCCAACTGACGTTGGCAGTCAATCACCTGATTTATTCCCACAGCTGATCTCTCAGAAGCTTTCATAGCAAAGAATAAACCTAAATCAATATTTCTTCTATATTATAGACCACAATGAAGTCATTACTTACCAGAAAGATTTCAATGGCACCAAGGATGTACATGGCTGCTGCAAATGTGGTACCAAGATAAAAGCAGAGGCCAACAGCCCCACCAAACTCTGGGCCCAGTGCCCGGGAAATCATAAAGTATGAGCCCCCAGCTAAAAGACAAAACAGAAGGTGAATAGAAGAAAGAGTGTGTATTAGCAAGAGGAATATGAATAAAACAGAAATAAGAAAAAATATATACATAAAGGTTAAATGTTTCAGGCTTCTGCAAACCCTCAATGTGATAAAAAGATGTGCTAGTGGGAAGTAAAAGGTGAAAGTGTTATTGTGGGATATACTGCACAACTAATGTAATGAGCCATATGAAGCAATAGTTTGCCAGCATTTACTTAGAAAAAAATTAGAGAATATTTACTATGACATGAGACAGCCCAATAAAATATATTCTGGCTGGGTGTGGAGGTTCACGCCTCTAATGGTAGCACTTTGGGAGGATGAGGCGAGAGGATTGCTTGAGGCCAGGAGTTTGAGACCAAACTGGGTAACATAGTAAAATGTCACCTCTGTAAAAAAAAAAAAATAGCCAGGCATAGTGGTGTACACCTCTAGTTCCAGCTACTCAGGAGGCTGAAGTGGGAAAGCAGCTTGAGCCTAGGAGTTGGAGGCTGTGTGAGCTATGATCGTGTCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTATAAAAAAATATATATTCCAACTAATAAAAGCTAAGAATGTGACTGAAATTAATGCATTCTAGTTTAAAAAATAAAGAGATTTTAAAGACGGCATCTTAAAGTCAAGTAGTATTATGTCTACGTCCTATAGACCATTACTCTGTTGTAGCACAGAACAGACCAAATAGTATTCTATTCTTCAGAAGTTTGCACCTCTAGCTTTATAGCATAAACACAGAGTCAACACTGATAAATCCTGAAATACAACCTTGACCTACTAACCTGGCACCACTCCATTAGTGGCAATGGCACTCATGGAGATAGCAGTCAACATTGTCTGCAGAGAAAAGGAAAGGAGAGGATTGTTACTGTGTAAAGATGACATTTCTATACTACTTCTCCATTTGTGTTCCAAGAGCACTTGGCAAACATTTAACTCTACCTACTTTTATGGACAGTCATACCTAATGGTATGGAAATAAGATGATATGGTCCAATTCATTGCGCTAGTCATACCACTAATATCTGGAGGATTCTGTCAAAATGCTCCCACATCAGTAGGTCAGGTGCTATTAAGAACTGCTAATCTCACTCTGGATTTCCTAGTTACACAGGAAATAGAGCATAGTATACTCAAAAGGAAGAACTAGAGAAATAACTCAGAAAATAGGTTAGAACCTGACTAAAGACTAAATACAATATCAAGAACAATGTTCAGTAAGAAAGGGAATCACTGAAGGCTTCTGAGCACACAGGAACCGCATTTTAAAAATATTACCCGGTAGCACAGTATAGAATGCGCTGCAGATAGGAGTAGCTGGAGGCCGAGTGATTGGTTAGCAGGCTACCATAGTAGTTCAGTGAGAGGTAAAAACTATAGTGGTGGTAGTGTGAATAAAAAGGGCTGAGTGTAAAAGATTTCAGAGAATAGATTAGCGTTGGTAGCTGATTAGATGTGAAAAGCAATTAAGAAGCCAAACACAGCCTTGAGGTTTTAAGCCTGAGACTAAAAAAAGGTGGTACCATGAACATTTTAAGTTATTAAAAATATGAACTGTGCCTGCTTAACCTGTTTTGCTCATCAGCTGGGGATAATATACAGGTAGGGTATAAAGGTCATAGTGATAAAAAAGGACAGTAGAAAACTATAAAATTCATAGGTGTGTCTGGGATACATAATGAGAAGTTTAAATTAAAGGAAGATAAAAATGTTCTCAGTAGAGAGAAGACCTGGAAAGAACATCTAAATTTCTAAGGAAGGGATAAGGGAAGAAACTTCAAAACCAAATAAAAAAACCAAATACCCCTCACATCCGCAATAACCTGTCTTGTTTCTCAATATATACTGGAGTGATACATCACATTTTCTAACAC
|
ATTTCCCAGTCTTGTTTCATGTATTATTCTAGATTTTTTGTCTTGTTTTGCTGGAATATCTCAAAGAAAATACCATGCATTATGACCGTGTACTAATCAAAAAAGAGGAGAAGCCCCAAAGGTGAACCTGAGACAAAATGGAATTTCCCAAATTGAGATATAACCAGAATGTCACCTTTAGAAATTTTATGCCCCTAAAAAGGACCTTCAGCTGTATTACAGTCCCTAGATAAGCAGATTAAAAGTTTAAGATGGAATCTACTTCTGCCATCATGCAGCATAGCATAGAAGAAATACTGAATGGGGAGTCAGGAAATCACAGTTCATCTTCTTGCTCTGCCATTAATTAACTTTGAGGTAAGTCATTAAACCTACTGGAACTGTCTTTTTGTCTTGAAAAATCTTTTTTTCTGTAATCTGGTTAAATCAACATAGAACCGATGAGTTTGATCCTCAGATAATCCAGATGACTCTTCAAGATAATTCTGTAACAAGACTACAAATAACACTGAGTGCCAGCTAGTCCCTATGCCACTAGTCAAAGGGAAAAGTGAGCCTGTGAGTCACAGATGTGCACAAATCCATTACTACTTCAAAAAACATACTTTAAAGTATTCGCACTAGGGAGTTGAAGGAGGTGGTGAATGATGAGAGAGTACTTAATGGGTACAAAGTACATTATTTGGGTAATGGATAAAAGCCCTGACCTAGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACGTCGGGAGGCCAAGGTGGGCCTTATAAAGGTTGCTGGCAATAACTACACTGTCTGCAAAGCCCTTTATGAATAGTTCAAAATGTGTATAATAAAAAAAGATTATGTACAATTATCAGGGAGAAAAAAATCTAATATCTGAACCTAAATGATGGTTACAGCTACTAGTTCTATGCTTAGGACATAAGAAAGAGGATGAACGGGACATAGTTTGCTGGTAGGCTTCCTGCCTAGATGAGGAAGGAAGTCTAACTGGGCTTATCTGAGAGGGAAAATCTCAGAGAGACTCTATGAAATTCTGACTTAAAATTATCACACCACCAGATATTTTCAATTACTACCCAATAAGGATGGCTAGGCAGAGAGACAGACACGTACGGGAAGTGTGGAGGAGCAAAAGAAGACTTGATGGCTCCAGCATAGATGGCCAAGATGGACACAATGACACAGGCCAGGAAAAGTGAGGCAAACTTGTTCACATAGCGTACGCCGATAAATACCACTAATACCATAAGGACCAAGAAAGCTGTGCCGTAGACACGCATGTTATTTAGCATGGCTGCTGATTCCTTGAGTGCGTCATCACTGTGAAAGATGGCAGCTCGGGGGACGATATAGACCTGTTAGGTAAAAATAAAGGAGAAAATTAGGTTATTTCAAAATAATTAAGTAAAAAGGCTGTATTCGTTTGCATTTACTTTCACAAAAGAAAGCAAAGCTGAGAGAGAAAATGACTGGGGAATTAGCCTAGTTTCTAATAGGATCTGAAATGCCTTCAGAAATGGGATGTCATGGATTTTTTTTTTTTTTTTGGTCTACATGCTGTTCTGAATAACTACATTTCCAAATGGAAAGAAAGGAAAGGAACAAATTATTAATTTTATTCATAGGGTTATATAAAGTAATTATAATGATGATCTTTAACCCTGACTCTACTATCACTACTTTAAATAGTAAACAATATGTCTCAGTGAAGAGAGATATGAGAAGCATTTTATTTCATAGGGATGAAGATATCAAAAAAGATAAACTTTATTTTACTTTTTCCCCATTGGACTTGAACCTCTTGGATGAGGTGGCAGAGTGGTGGCAATCAGGTAGAAAGGAAGGGACAGGCAGGCAAACAGAATTTCAACCTTTCCACCTCATATTCATGTAAGAGGCCAACTGACGTTGGCAGTCAATCACCTGATTTATTCCCACAGCTGATCTCTCAGAAGCTTTCATAGCAAAGAATAAACCTAAATCAATATTTCTTCTATATTATAGACCACAATGAAGTCATTACTTACCAGAAAGATTTTAATGGCACCAAGGATGTACATGGCTGCTGCAAATGTGGTACCAAGATAAAAGCAGAGGCCAACAGCCCCACCAAACTCTGGGCCCAGTGCCCGGGAAATCATAAAGTATGAGCCCCCAGCTAAAAGACAAAACAGAAGGTGAATAGAAGAAAGAGTGTGTATTAGCAAGAGGAATATGAATAAAACAGAAATAAGAAAAAATATATACATAAAGGTTAAATGTTTCAGGCTTCTGCAAACCCTCAATGTGATAAAAAGATGTGCTAGTGGGAAGTAAAAGGTGAAAGTGTTATTGTGGGATATACTGCACAACTAATGTAATGAGCCATATGAAGCAATAGTTTGCCAGCATTTACTTAGAAAAAAATTAGAGAATATTTACTATGACATGAGACAGCCCAATAAAATATATTCTGGCTGGGTGTGGAGGTTCACGCCTCTAATGGTAGCACTTTGGGAGGATGAGGCGAGAGGATTGCTTGAGGCCAGGAGTTTGAGACCAAACTGGGTAACATAGTAAAATGTCACCTCTGTAAAAAAAAAAAAATAGCCAGGCATAGTGGTGTACACCTCTAGTTCCAGCTACTCAGGAGGCTGAAGTGGGAAAGCAGCTTGAGCCTAGGAGTTGGAGGCTGTGTGAGCTATGATCGTGTCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTATAAAAAAATATATATTCCAACTAATAAAAGCTAAGAATGTGACTGAAATTAATGCATTCTAGTTTAAAAAATAAAGAGATTTTAAAGACGGCATCTTAAAGTCAAGTAGTATTATGTCTACGTCCTATAGACCATTACTCTGTTGTAGCACAGAACAGACCAAATAGTATTCTATTCTTCAGAAGTTTGCACCTCTAGCTTTATAGCATAAACACAGAGTCAACACTGATAAATCCTGAAATACAACCTTGACCTACTAACCTGGCACCACTCCATTAGTGGCAATGGCACTCATGGAGATAGCAGTCAACATTGTCTGCAGAGAAAAGGAAAGGAGAGGATTGTTACTGTGTAAAGATGACATTTCTATACTACTTCTCCATTTGTGTTCCAAGAGCACTTGGCAAACATTTAACTCTACCTACTTTTATGGACAGTCATACCTAATGGTATGGAAATAAGATGATATGGTCCAATTCATTGCGCTAGTCATACCACTAATATCTGGAGGATTCTGTCAAAATGCTCCCACATCAGTAGGTCAGGTGCTATTAAGAACTGCTAATCTCACTCTGGATTTCCTAGTTACACAGGAAATAGAGCATAGTATACTCAAAAGGAAGAACTAGAGAAATAACTCAGAAAATAGGTTAGAACCTGACTAAAGACTAAATACAATATCAAGAACAATGTTCAGTAAGAAAGGGAATCACTGAAGGCTTCTGAGCACACAGGAACCGCATTTTAAAAATATTACCCGGTAGCACAGTATAGAATGCGCTGCAGATAGGAGTAGCTGGAGGCCGAGTGATTGGTTAGCAGGCTACCATAGTAGTTCAGTGAGAGGTAAAAACTATAGTGGTGGTAGTGTGAATAAAAAGGGCTGAGTGTAAAAGATTTCAGAGAATAGATTAGCGTTGGTAGCTGATTAGATGTGAAAAGCAATTAAGAAGCCAAACACAGCCTTGAGGTTTTAAGCCTGAGACTAAAAAAAGGTGGTACCATGAACATTTTAAGTTATTAAAAATATGAACTGTGCCTGCTTAACCTGTTTTGCTCATCAGCTGGGGATAATATACAGGTAGGGTATAAAGGTCATAGTGATAAAAAAGGACAGTAGAAAACTATAAAATTCATAGGTGTGTCTGGGATACATAATGAGAAGTTTAAATTAAAGGAAGATAAAAATGTTCTCAGTAGAGAGAAGACCTGGAAAGAACATCTAAATTTCTAAGGAAGGGATAAGGGAAGAAACTTCAAAACCAAATAAAAAAACCAAATACCCCTCACATCCGCAATAACCTGTCTTGTTTCTCAATATATACTGGAGTGATACATCACATTTTCTAACAC
|
Task1_train_20501
|
Here’s a variant in LOC129390683, SLC12A6 (MPRA-validated peak2292 silencer| solute carrier family 12 member 6) located on Chromosome 15. What is the predicted biological effect — harmless or disease-causing?
|
Pathogenic; Inborn genetic diseases
|
GAGACAGCCCAATAAAATATATTCTGGCTGGGTGTGGAGGTTCACGCCTCTAATGGTAGCACTTTGGGAGGATGAGGCGAGAGGATTGCTTGAGGCCAGGAGTTTGAGACCAAACTGGGTAACATAGTAAAATGTCACCTCTGTAAAAAAAAAAAAATAGCCAGGCATAGTGGTGTACACCTCTAGTTCCAGCTACTCAGGAGGCTGAAGTGGGAAAGCAGCTTGAGCCTAGGAGTTGGAGGCTGTGTGAGCTATGATCGTGTCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTATAAAAAAATATATATTCCAACTAATAAAAGCTAAGAATGTGACTGAAATTAATGCATTCTAGTTTAAAAAATAAAGAGATTTTAAAGACGGCATCTTAAAGTCAAGTAGTATTATGTCTACGTCCTATAGACCATTACTCTGTTGTAGCACAGAACAGACCAAATAGTATTCTATTCTTCAGAAGTTTGCACCTCTAGCTTTATAGCATAAACACAGAGTCAACACTGATAAATCCTGAAATACAACCTTGACCTACTAACCTGGCACCACTCCATTAGTGGCAATGGCACTCATGGAGATAGCAGTCAACATTGTCTGCAGAGAAAAGGAAAGGAGAGGATTGTTACTGTGTAAAGATGACATTTCTATACTACTTCTCCATTTGTGTTCCAAGAGCACTTGGCAAACATTTAACTCTACCTACTTTTATGGACAGTCATACCTAATGGTATGGAAATAAGATGATATGGTCCAATTCATTGCGCTAGTCATACCACTAATATCTGGAGGATTCTGTCAAAATGCTCCCACATCAGTAGGTCAGGTGCTATTAAGAACTGCTAATCTCACTCTGGATTTCCTAGTTACACAGGAAATAGAGCATAGTATACTCAAAAGGAAGAACTAGAGAAATAACTCAGAAAATAGGTTAGAACCTGACTAAAGACTAAATACAATATCAAGAACAATGTTCAGTAAGAAAGGGAATCACTGAAGGCTTCTGAGCACACAGGAACCGCATTTTAAAAATATTACCCGGTAGCACAGTATAGAATGCGCTGCAGATAGGAGTAGCTGGAGGCCGAGTGATTGGTTAGCAGGCTACCATAGTAGTTCAGTGAGAGGTAAAAACTATAGTGGTGGTAGTGTGAATAAAAAGGGCTGAGTGTAAAAGATTTCAGAGAATAGATTAGCGTTGGTAGCTGATTAGATGTGAAAAGCAATTAAGAAGCCAAACACAGCCTTGAGGTTTTAAGCCTGAGACTAAAAAAAGGTGGTACCATGAACATTTTAAGTTATTAAAAATATGAACTGTGCCTGCTTAACCTGTTTTGCTCATCAGCTGGGGATAATATACAGGTAGGGTATAAAGGTCATAGTGATAAAAAAGGACAGTAGAAAACTATAAAATTCATAGGTGTGTCTGGGATACATAATGAGAAGTTTAAATTAAAGGAAGATAAAAATGTTCTCAGTAGAGAGAAGACCTGGAAAGAACATCTAAATTTCTAAGGAAGGGATAAGGGAAGAAACTTCAAAACCAAATAAAAAAACCAAATACCCCTCACATCCGCAATAACCTGTCTTGTTTCTCAATATATACTGGAGTGATACATCACATTTTCTAACACATTTTCTGTCACAACTTTGGTGCTATCAAGCTCAAATAGTTTGGATTCTGAATTCTCTGAAGACAGGAACTTTATCTTCCATTTTCAGTTGAAGTCTTGCTTTGTAATTTCTAGTACATCATATAATAGATAGCAAGCAGTGACTAACAGGCACTGAATAACTGAAAATCCTTTAGATTTTAATATCAGAATAATTTCTTCTGTTGAGATCATGAGTCCTTCCCTAAGTATTCTTTGTTTTATTCCCAAAGAGGTCATGTGCATCTGCTCTTGAGAACTTGCAACGTTCAGGTGATCTCTAGGAGCCAGTGCAGTACTTACACAGCAGCAGCAGATAAGGACAATTGCAAAAGCCTGAAGAACTCCAGCTGTGCCCACCACCCATGTAAGGCGTAAAAAAAGGATCACTCCAAAAATATTTTGTAGACATGGGAGGTAGACACCCATGAAGGTACCCATTTGGGGGGTCTAGAAAGAAAGACATTGATAAAAAATCACACAGTTATCCTAAAGAGAGGTTTTTATTCTTTTATGTAATAACTTGCTCCCTAACTACCATATTAACCTCCAAGCAGAAATCATAAGTTTAATCAATACCTTCAAAAGGGCACATATAAAATCTCCATCTTTCAAGTGTTTATCACCATACTTTTATTATTCCTAAAGCTATATATTTTAACTTTACAAAGGTTCCTGCATGTGTTTATTATACATAGGCATTTGGCCACAAATAAACTTTTATGTGCACCCACAACAATTTAAAATTTTGTTTTTCAAAGCTGTTGGCTTTTTTCATTTAAAAACAATAAGGACTTGATGGAATTTCTTCAGAATTTGGCATAAATTCTTCACAGTAGTTAGTAAATAAATTAGATGGCAAAATGAAGATCTGAGGGCCGTTTTATCCCTTTTTGAAAGGGCTGAACAACCAGAATGGTAAACTGAATGTCTTATATTTTCATTTTGAGACAAACTGATGTTTGGTGTTTAAAAAACCCAACAACTTCACAACAGACAGATGGCATCAGCAGATGGGTATGGACACTCTTCTCTTGAAAAGCTATTCCCTCTCCCTGAATGCTCTTTTCCCACATAGCTCACTCCCTCCCATCAGCTAGATCTCTCCTCAAATATCACCTTGTCAGAAAGGCTTTCCCTGTCCAACCTATGTAAGTAGCAACGCCCTCCACTCTGGATCCCTTGCCAATTTCAGTCTCTCTACTCTGCTTAATTTTTTGCTCGGGAATTTATCAACACTTAATATGTTATATACTTTGGCAGTTAAAACAGCTTAAGGACTGTATCCCCACATCAGAATTTAGACTGCATCATATGTTTTCTTTGTGCTATGACGCTGGTGCCCAGAACAGTTCCAGGCACCTCTCAAGCATTTAATAAATAGCTGCTGAACACAGAATGGTGCCTTAGGTATTTCCTTCTTTCTTATATACAGGGCTCTTTCTATGTATTCCTTGTTATTCTGAGGCCTCACCTTGGTGGGCTTCTTTTTCCCTTCAGTGATGTTTTCTGCCTCTTCATGTTCCTTTGCTCCTTGAGTCAGATTAGTGTAATTGGCCATGCGGTTGAGGAGGGAAGACACCTTCGGTCTGGTGTCCATTTCTTCCTATAAAGCCAGTGACATGGAAGAAATGAGCTACAAAGAACACTGAACATAAGTATCAAAATAATCTTGCTACCAGAAAACTTCAAATTAAATGAAAAAATATTTCACAGGTAGGCCGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAGGCTGGGAGTTTGAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATAAGCTGGGTGTGGTGGCACGTGCCTGTAATCCCAGCTACACGGGAGGCTGAGGCGGGAGAATCAGCTTGAACCCAGGAGGCAGAAGTTGCAGTGAGCCGAGATCGCGCCACTGCGCTCCAGCCTGGGCAACAGAGGGAGACTCCATCTCAAAAAAAAAAAAAAAATTGGTACATTGAGTTGGGCATGGTGGCTCACACCTGCTAACCCAATGCTATGGGAGGGCAAGGCAGAAGGATCGCTTGAGCCCAGGCACTCAAGACCAGCCTGGGCAACAGAGTGAGACCCTGTCTCTGCAAAAAATTTAAAAATCAGCCAGGTGTGGTGACACATGCCTGTAGTCCCAGCTACTAGGGAGGCTGAGGTAGGAGGGTCCTTTGAGCCCAGGAGGTCAAGCTGTGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGTCTCAAAAACAAACTAAAAATGGTACATTGAGAGAAGTGGCACTTGCATCATTGTCAAAGGCCAGAAAAAGGTAGTGCTGAAATAAACCAGGCTCCTTTCAACAACCTGGCCACAGCTTATGGAG
|
GAGACAGCCCAATAAAATATATTCTGGCTGGGTGTGGAGGTTCACGCCTCTAATGGTAGCACTTTGGGAGGATGAGGCGAGAGGATTGCTTGAGGCCAGGAGTTTGAGACCAAACTGGGTAACATAGTAAAATGTCACCTCTGTAAAAAAAAAAAAATAGCCAGGCATAGTGGTGTACACCTCTAGTTCCAGCTACTCAGGAGGCTGAAGTGGGAAAGCAGCTTGAGCCTAGGAGTTGGAGGCTGTGTGAGCTATGATCGTGTCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTATAAAAAAATATATATTCCAACTAATAAAAGCTAAGAATGTGACTGAAATTAATGCATTCTAGTTTAAAAAATAAAGAGATTTTAAAGACGGCATCTTAAAGTCAAGTAGTATTATGTCTACGTCCTATAGACCATTACTCTGTTGTAGCACAGAACAGACCAAATAGTATTCTATTCTTCAGAAGTTTGCACCTCTAGCTTTATAGCATAAACACAGAGTCAACACTGATAAATCCTGAAATACAACCTTGACCTACTAACCTGGCACCACTCCATTAGTGGCAATGGCACTCATGGAGATAGCAGTCAACATTGTCTGCAGAGAAAAGGAAAGGAGAGGATTGTTACTGTGTAAAGATGACATTTCTATACTACTTCTCCATTTGTGTTCCAAGAGCACTTGGCAAACATTTAACTCTACCTACTTTTATGGACAGTCATACCTAATGGTATGGAAATAAGATGATATGGTCCAATTCATTGCGCTAGTCATACCACTAATATCTGGAGGATTCTGTCAAAATGCTCCCACATCAGTAGGTCAGGTGCTATTAAGAACTGCTAATCTCACTCTGGATTTCCTAGTTACACAGGAAATAGAGCATAGTATACTCAAAAGGAAGAACTAGAGAAATAACTCAGAAAATAGGTTAGAACCTGACTAAAGACTAAATACAATATCAAGAACAATGTTCAGTAAGAAAGGGAATCACTGAAGGCTTCTGAGCACACAGGAACCGCATTTTAAAAATATTACCCGGTAGCACAGTATAGAATGCGCTGCAGATAGGAGTAGCTGGAGGCCGAGTGATTGGTTAGCAGGCTACCATAGTAGTTCAGTGAGAGGTAAAAACTATAGTGGTGGTAGTGTGAATAAAAAGGGCTGAGTGTAAAAGATTTCAGAGAATAGATTAGCGTTGGTAGCTGATTAGATGTGAAAAGCAATTAAGAAGCCAAACACAGCCTTGAGGTTTTAAGCCTGAGACTAAAAAAAGGTGGTACCATGAACATTTTAAGTTATTAAAAATATGAACTGTGCCTGCTTAACCTGTTTTGCTCATCAGCTGGGGATAATATACAGGTAGGGTATAAAGGTCATAGTGATAAAAAAGGACAGTAGAAAACTATAAAATTCATAGGTGTGTCTGGGATACATAATGAGAAGTTTAAATTAAAGGAAGATAAAAATGTTCTCAGTAGAGAGAAGACCTGGAAAGAACATCTAAATTTCTAAGGAAGGGATAAGGGAAGAAACTTCAAAACCAAATAAAAAAACCAAATACCCCTCACATCCGCAATAACCTGTCTTGTTTCTCAATATATACTGGAGTGATACATCACATTTTCTAACACATTTTCTGTCACAACTTTGGTGCTATCAAGCTCAAATAGTTTGGATTCTGAATTCTCTGAAGACAGGAACTTTATCTTCCATTTTCAGTTGAAGTCTTGCTTTGTAATTTCTAGTACATCATATAATAGATAGCAAGCAGTGACTAACAGGCACTGAATAACTGAAAATCCTTTAGATTTTAATATCAGAATAATTTCTTCTGTTGAGATCATGAGTCCTTCCCTAAGTATTCTTTGTTTTATTCCCAAAGAGGTCATGTGCATCTGCTCTTGAGAACTTGCAACGTTCAGGTGATCTCTAGGAGCCAGTGCAGTACTTACACAGCAGCAGCAGATAAGGACAATTGCAAAAGCCTGAAGAACTCCAGCTGTGCCCACCACCCATGTAAGGTGTAAAAAAAGGATCACTCCAAAAATATTTTGTAGACATGGGAGGTAGACACCCATGAAGGTACCCATTTGGGGGGTCTAGAAAGAAAGACATTGATAAAAAATCACACAGTTATCCTAAAGAGAGGTTTTTATTCTTTTATGTAATAACTTGCTCCCTAACTACCATATTAACCTCCAAGCAGAAATCATAAGTTTAATCAATACCTTCAAAAGGGCACATATAAAATCTCCATCTTTCAAGTGTTTATCACCATACTTTTATTATTCCTAAAGCTATATATTTTAACTTTACAAAGGTTCCTGCATGTGTTTATTATACATAGGCATTTGGCCACAAATAAACTTTTATGTGCACCCACAACAATTTAAAATTTTGTTTTTCAAAGCTGTTGGCTTTTTTCATTTAAAAACAATAAGGACTTGATGGAATTTCTTCAGAATTTGGCATAAATTCTTCACAGTAGTTAGTAAATAAATTAGATGGCAAAATGAAGATCTGAGGGCCGTTTTATCCCTTTTTGAAAGGGCTGAACAACCAGAATGGTAAACTGAATGTCTTATATTTTCATTTTGAGACAAACTGATGTTTGGTGTTTAAAAAACCCAACAACTTCACAACAGACAGATGGCATCAGCAGATGGGTATGGACACTCTTCTCTTGAAAAGCTATTCCCTCTCCCTGAATGCTCTTTTCCCACATAGCTCACTCCCTCCCATCAGCTAGATCTCTCCTCAAATATCACCTTGTCAGAAAGGCTTTCCCTGTCCAACCTATGTAAGTAGCAACGCCCTCCACTCTGGATCCCTTGCCAATTTCAGTCTCTCTACTCTGCTTAATTTTTTGCTCGGGAATTTATCAACACTTAATATGTTATATACTTTGGCAGTTAAAACAGCTTAAGGACTGTATCCCCACATCAGAATTTAGACTGCATCATATGTTTTCTTTGTGCTATGACGCTGGTGCCCAGAACAGTTCCAGGCACCTCTCAAGCATTTAATAAATAGCTGCTGAACACAGAATGGTGCCTTAGGTATTTCCTTCTTTCTTATATACAGGGCTCTTTCTATGTATTCCTTGTTATTCTGAGGCCTCACCTTGGTGGGCTTCTTTTTCCCTTCAGTGATGTTTTCTGCCTCTTCATGTTCCTTTGCTCCTTGAGTCAGATTAGTGTAATTGGCCATGCGGTTGAGGAGGGAAGACACCTTCGGTCTGGTGTCCATTTCTTCCTATAAAGCCAGTGACATGGAAGAAATGAGCTACAAAGAACACTGAACATAAGTATCAAAATAATCTTGCTACCAGAAAACTTCAAATTAAATGAAAAAATATTTCACAGGTAGGCCGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAGGCTGGGAGTTTGAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATAAGCTGGGTGTGGTGGCACGTGCCTGTAATCCCAGCTACACGGGAGGCTGAGGCGGGAGAATCAGCTTGAACCCAGGAGGCAGAAGTTGCAGTGAGCCGAGATCGCGCCACTGCGCTCCAGCCTGGGCAACAGAGGGAGACTCCATCTCAAAAAAAAAAAAAAAATTGGTACATTGAGTTGGGCATGGTGGCTCACACCTGCTAACCCAATGCTATGGGAGGGCAAGGCAGAAGGATCGCTTGAGCCCAGGCACTCAAGACCAGCCTGGGCAACAGAGTGAGACCCTGTCTCTGCAAAAAATTTAAAAATCAGCCAGGTGTGGTGACACATGCCTGTAGTCCCAGCTACTAGGGAGGCTGAGGTAGGAGGGTCCTTTGAGCCCAGGAGGTCAAGCTGTGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGTCTCAAAAACAAACTAAAAATGGTACATTGAGAGAAGTGGCACTTGCATCATTGTCAAAGGCCAGAAAAAGGTAGTGCTGAAATAAACCAGGCTCCTTTCAACAACCTGGCCACAGCTTATGGAG
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Task1_train_20502
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This variant lies on Chromosome 15 and affects the gene NOP10 (NOP10 ribonucleoprotein). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Dyskeratosis congenita, autosomal recessive 1
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TAACTCTTTAAAATCCTTCAGATCCAATGTTAAGAACCCTGCAAGTAAGTGAACAGGCTAAGAAATAAAATTCCTTGACAGGAAACAAGTATCTCATTTCACCATTCCTATATGTTTCAGTAATGTATTTCAAAATCATCTGTCTTCTATTAATTATGACTCCAGTTGAGAGACTTTTTTTTTTCTTTTCAGCAACCCACAACTATCCTGAACTTTTCTGCTGGGATGGTCAAATAGCAAGATCCAAGAAAAGCAAAGTCTGGCCGGGCACTGTGGCTCACGCCCGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGACAGCTTGAGCCCGGAGTGCAACACCAGCTTGGGCAACATAGTGAGACCTCGTTTCTATAAAAAATTTAAAAATGGGGTGGACCGCTTGAGACAGGGAGGTAGAGGCTGCAATGAGTTGTGATCACATCACTGCACTCCTGCCTGGACCACAGGAGTGAGACCTGACTCAAAAAAAAAAAAAAAGTATTTCCAGGGTATGTCTTCATAAATCACATCTGTGCTAATTTAAGTTATATCTGCTTCTGGAATCTAGAATTTTTATCATAGAAAATAAAGATTGCAGAATTAAAATACAGACTCCACAAAGCAATTTTAAAATCTGCAGCACTAGGCCGGCCAAGGTGGCTCATGCCCGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATTACTTGAGGTCAGGAGTTTGAGATCAGCCTGACCAACAAGGTGAAACCTTGTTTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGTGCGCCTGTAGTCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATAGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAACCAAGATGGCGCCACTGCACTCCAGCCTGGGGTACAAGAGCAAAACTCCATCTCAAAAAAAAAGAAAGACCCAGGCCAGGTGTGGTGACTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGTGAGGAGTTTGAGACCAGCTTGGCCGACATGGCGAAACCCTGTCACTACTAAAAGAAATACAAAAATTAGCCAGGTGTGGTGGCGTGCACCTGTAATCCCAGTTACTTGGGAAGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGACGGAGGTTGTAGTCAGCCAAGGCTGCACCCCTGCACTCCAGCCTGGACAACAGATCTAGACTCTGTCTCAAAAGAAAAAAAAAGAAAGGCCCACCACTAAATCAATTTGAGTTCAAAGATAAGTTAATCAGGAGAAAAATCAGACTAAACAGGTTAAGTAACTTTCTCAAAGTTATACAAAAAGCAAATACTGGTCTTCTGACTTTCAATTCACTGACCTCTGTCTGTAATATGCCTATTACTTTTACAAGTACTCTTCCATTTTTAATCAAAATCTTATTTCAAGGGACAAGAAATTACGTTAAGTGACAACAGAGGTATTTTTCAGTGAATGCTGACAGCTGTGAAAGTCTTAATCTTTCTTCCCCAATACCCTCCTATCATGAACAGCACATGACCACTCTTGCAACAGCAGGACTGAAGTTTTTCTTCCAAGTGGTATTGTTGCAACTCTCTGGGGTACTCTCCTTTATCATCTCCCTCCCTTTAAAAAAATACTGCCAATCCTTTCCTCCAACAACTCACAAAATAAGAGTTTTTCAAATCATTTTATCTTTAATAATCTTGTAGTAATTTAAAATATGAGAAAAAAAAGTCAAATGTGTTCCCTTTATGGGTGATGCCACCATGATTGCCTCACACAAGCATAATCAATCGCCACGAGAGACTGGATGCCAAAGAGTATGGCTGGCAAAAAGGCATCAGGGCTCACAGTCCGAAGAGTTTGGTTACGGAGTCTCCGAGGGGTAACAGGTGGCAGAAAAGACATCAGTTTAAGGGACCCTCAGAGGACAGGGCGCGGTTGCTGGGTCATGAGCACCTTGAAGCGTTTCTTGATGGTGATTCGGTGTCGAGAGTATTTGTCATCTGGGGAGAACCGAGCAGGATGGGCTGAGCAGGTCTGTTGTCCCATCGGGTCAAATTTCTGCTCCAGGAACACAGAATGTATGTCAGTACAGGAGTGATGAAATGGGGTGGGGCCAGCGCGAAAAAGGGCAAACATGAAAATAGAAGATGCAATGGTCAACTCAAAAAGTTGTACAAATAAATAGAGAAATATAAAATTTAAAAAGGCCGAGCGCGGTGGCTCACGCCTGTAATCCTGGCACTTTGGGAGGTCGAGGCGGGAGGATGGTTTGAGACCAGCCTGGGCAATATGGCGAAACCTCGTCTCTACAACAAACAAACAAACAAAACCAACCAACCAAACAAAAAACCCCAAAACCAAAAATTAGCCGGGTATGGTGGCGCACGCCTGTAGTCCCAACTACTCGGGAGGCTGAGGCAGAAGGATTGTTTGAGCCCAGGAGGCGGAGGTTGCAGTGAGCCGAGACCGCACCACCGCACTACAGCCTAGGCAACAAAGCGAGTCCCTGTCTTTAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGTGAGTGCAATGGCGCTATCCCGGCTCACTGCAACCTCTGCCTCCCGGGTTTAAGCGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATAACAGGCGCACACCGCCATGCCCGGCTAATTTTTTGTATTTTAGTAGAAACGGAGTTTCACAGTGTTGCCCAGAATGGTCGCGAACTCCTGAGCTAAGGCAATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGGGAGCCACTGCGCCCCGCCAGAATTTTTTCTTTTAATTAAAAAATGAGTCGCGCGGTCCCGGTTCTTCCCCACCTCGGTTCTGGACTTTCTGGTTCCCCGCACCCAGCTAGGTAACTCCACGTATGACCTCACCCACTCCTCCCATCTACATTTCTCGCCATGCCTATTTACACCCTGTTTTCTCTCCTCACCTTCAGCGTATAGACTCGATCTCCCTGCTCGTTGAGGTAATACTGGAGAAACATGATCGCTTATAAGCCAGCGGTCCCAATTCGGTCCACCGCTCAGTCTGCAGTGGTCCGCCCGACCGCGTCACGTGTTCGTCAATTTCCTTCCTGCATAACCGGAAGTCTCTCTCTCCTGGCACTCCGGAAAATGTAGTCAATTTTTGCCTTGTTTTCAGCTAGCCAGAAGGGGGCGCACGAGAGCAGGGCTTGGCTTGGGGCCCTACTTGCAACTTTGCAGGCTAAAACACGTGGAGTGTCCCTACTGTGTGCTAGGTACACGGCGTTAGAGGGGGGTAGGGATGGATGTGGATAGAATATTGACGTATAGAAGCCTGTCTTTGTCTCAAGATACACACCCATTTCAGGAGCAGTGAGTTTTCAATGCCTGAAGAAACAAGGGCTCCAGGATTCAGAGCCCCTTTACCCTAGGGAAGAAAGAAGAGGTTTTCTTCCCTCCCCTCTTTTACATCCAGTTCCCCTGCTCCATTTCAAAGCGTTGGCGGTAAAGAATGCATGTTGAGTATCAATATTCCGTAAAGCGAAAGAGCGTAAAGTTATTTTATGAAACTGGTGAAGCATGTTTCAGCGGTCGAACCAAGATTTAAAGTTAGGTCCCTACCGCAAATTCAGCGCTCTTTCTTATGGTGGTGAGTAGCTAATAATAACGTAATAAAGTGCACCTTCTAGGAGTTTTTACAATTTTTAAAAGAATATAGAAGTTCTCCTTATAAGACTCTCGTTTAAAGAAATGAAAATGAGAACCAAAATATCATTACAAAGATCATCGTTACGCCATTATTTACAATGACAAAAGCATTGGAATATATATTAACTGTGTAACCAGAAAAACCTGCACTTTTTTTTTTTTTTTTTTAAGAATATGGTTTGGCGGGGCGCGGTGGCTCACGCCTGTAATCCCAACACTGGGAGGCTGAGGCAGGCAGATCACAGGTCAAGGGTTCGAGACCAGCCTGGCCAATCTGGCGAAACCCCGTCTCTACTAAAAATACAGAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCT
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TAACTCTTTAAAATCCTTCAGATCCAATGTTAAGAACCCTGCAAGTAAGTGAACAGGCTAAGAAATAAAATTCCTTGACAGGAAACAAGTATCTCATTTCACCATTCCTATATGTTTCAGTAATGTATTTCAAAATCATCTGTCTTCTATTAATTATGACTCCAGTTGAGAGACTTTTTTTTTTCTTTTCAGCAACCCACAACTATCCTGAACTTTTCTGCTGGGATGGTCAAATAGCAAGATCCAAGAAAAGCAAAGTCTGGCCGGGCACTGTGGCTCACGCCCGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGACAGCTTGAGCCCGGAGTGCAACACCAGCTTGGGCAACATAGTGAGACCTCGTTTCTATAAAAAATTTAAAAATGGGGTGGACCGCTTGAGACAGGGAGGTAGAGGCTGCAATGAGTTGTGATCACATCACTGCACTCCTGCCTGGACCACAGGAGTGAGACCTGACTCAAAAAAAAAAAAAAAGTATTTCCAGGGTATGTCTTCATAAATCACATCTGTGCTAATTTAAGTTATATCTGCTTCTGGAATCTAGAATTTTTATCATAGAAAATAAAGATTGCAGAATTAAAATACAGACTCCACAAAGCAATTTTAAAATCTGCAGCACTAGGCCGGCCAAGGTGGCTCATGCCCGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATTACTTGAGGTCAGGAGTTTGAGATCAGCCTGACCAACAAGGTGAAACCTTGTTTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGTGCGCCTGTAGTCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATAGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAACCAAGATGGCGCCACTGCACTCCAGCCTGGGGTACAAGAGCAAAACTCCATCTCAAAAAAAAAGAAAGACCCAGGCCAGGTGTGGTGACTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGTGAGGAGTTTGAGACCAGCTTGGCCGACATGGCGAAACCCTGTCACTACTAAAAGAAATACAAAAATTAGCCAGGTGTGGTGGCGTGCACCTGTAATCCCAGTTACTTGGGAAGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGACGGAGGTTGTAGTCAGCCAAGGCTGCACCCCTGCACTCCAGCCTGGACAACAGATCTAGACTCTGTCTCAAAAGAAAAAAAAAGAAAGGCCCACCACTAAATCAATTTGAGTTCAAAGATAAGTTAATCAGGAGAAAAATCAGACTAAACAGGTTAAGTAACTTTCTCAAAGTTATACAAAAAGCAAATACTGGTCTTCTGACTTTCAATTCACTGACCTCTGTCTGTAATATGCCTATTACTTTTACAAGTACTCTTCCATTTTTAATCAAAATCTTATTTCAAGGGACAAGAAATTACGTTAAGTGACAACAGAGGTATTTTTCAGTGAATGCTGACAGCTGTGAAAGTCTTAATCTTTCTTCCCCAATACCCTCCTATCATGAACAGCACATGACCACTCTTGCAACAGCAGGACTGAAGTTTTTCTTCCAAGTGGTATTGTTGCAACTCTCTGGGGTACTCTCCTTTATCATCTCCCTCCCTTTAAAAAAATACTGCCAATCCTTTCCTCCAACAACTCACAAAATAAGAGTTTTTCAAATCATTTTATCTTTAATAATCTTGTAGTAATTTAAAATATGAGAAAAAAAAGTCAAATGTGTTCCCTTTATGGGTGATGCCACCATGATTGCCTCACACAAGCATAATCAATCGCCACGAGAGACTGGATGCCAAAGAGTATGGCTGGCAAAAAGGCATCAGGGCTCACAGTCCGAAGAGTTTGGTTACGGAGTCTCCGAGGGGTAACAGGTGGCAGAAAAGACATCAGTTTAAGGGACCCTCAGAGGACAGGGCGCGGTTGCTGGGTCATGAGCACCTTGAAGCGTTTCTTGATGGTGATTCGGTGTCGAGAGTATTTGTCATCTGGGGAGAACCAAGCAGGATGGGCTGAGCAGGTCTGTTGTCCCATCGGGTCAAATTTCTGCTCCAGGAACACAGAATGTATGTCAGTACAGGAGTGATGAAATGGGGTGGGGCCAGCGCGAAAAAGGGCAAACATGAAAATAGAAGATGCAATGGTCAACTCAAAAAGTTGTACAAATAAATAGAGAAATATAAAATTTAAAAAGGCCGAGCGCGGTGGCTCACGCCTGTAATCCTGGCACTTTGGGAGGTCGAGGCGGGAGGATGGTTTGAGACCAGCCTGGGCAATATGGCGAAACCTCGTCTCTACAACAAACAAACAAACAAAACCAACCAACCAAACAAAAAACCCCAAAACCAAAAATTAGCCGGGTATGGTGGCGCACGCCTGTAGTCCCAACTACTCGGGAGGCTGAGGCAGAAGGATTGTTTGAGCCCAGGAGGCGGAGGTTGCAGTGAGCCGAGACCGCACCACCGCACTACAGCCTAGGCAACAAAGCGAGTCCCTGTCTTTAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGTGAGTGCAATGGCGCTATCCCGGCTCACTGCAACCTCTGCCTCCCGGGTTTAAGCGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATAACAGGCGCACACCGCCATGCCCGGCTAATTTTTTGTATTTTAGTAGAAACGGAGTTTCACAGTGTTGCCCAGAATGGTCGCGAACTCCTGAGCTAAGGCAATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGGGAGCCACTGCGCCCCGCCAGAATTTTTTCTTTTAATTAAAAAATGAGTCGCGCGGTCCCGGTTCTTCCCCACCTCGGTTCTGGACTTTCTGGTTCCCCGCACCCAGCTAGGTAACTCCACGTATGACCTCACCCACTCCTCCCATCTACATTTCTCGCCATGCCTATTTACACCCTGTTTTCTCTCCTCACCTTCAGCGTATAGACTCGATCTCCCTGCTCGTTGAGGTAATACTGGAGAAACATGATCGCTTATAAGCCAGCGGTCCCAATTCGGTCCACCGCTCAGTCTGCAGTGGTCCGCCCGACCGCGTCACGTGTTCGTCAATTTCCTTCCTGCATAACCGGAAGTCTCTCTCTCCTGGCACTCCGGAAAATGTAGTCAATTTTTGCCTTGTTTTCAGCTAGCCAGAAGGGGGCGCACGAGAGCAGGGCTTGGCTTGGGGCCCTACTTGCAACTTTGCAGGCTAAAACACGTGGAGTGTCCCTACTGTGTGCTAGGTACACGGCGTTAGAGGGGGGTAGGGATGGATGTGGATAGAATATTGACGTATAGAAGCCTGTCTTTGTCTCAAGATACACACCCATTTCAGGAGCAGTGAGTTTTCAATGCCTGAAGAAACAAGGGCTCCAGGATTCAGAGCCCCTTTACCCTAGGGAAGAAAGAAGAGGTTTTCTTCCCTCCCCTCTTTTACATCCAGTTCCCCTGCTCCATTTCAAAGCGTTGGCGGTAAAGAATGCATGTTGAGTATCAATATTCCGTAAAGCGAAAGAGCGTAAAGTTATTTTATGAAACTGGTGAAGCATGTTTCAGCGGTCGAACCAAGATTTAAAGTTAGGTCCCTACCGCAAATTCAGCGCTCTTTCTTATGGTGGTGAGTAGCTAATAATAACGTAATAAAGTGCACCTTCTAGGAGTTTTTACAATTTTTAAAAGAATATAGAAGTTCTCCTTATAAGACTCTCGTTTAAAGAAATGAAAATGAGAACCAAAATATCATTACAAAGATCATCGTTACGCCATTATTTACAATGACAAAAGCATTGGAATATATATTAACTGTGTAACCAGAAAAACCTGCACTTTTTTTTTTTTTTTTTTAAGAATATGGTTTGGCGGGGCGCGGTGGCTCACGCCTGTAATCCCAACACTGGGAGGCTGAGGCAGGCAGATCACAGGTCAAGGGTTCGAGACCAGCCTGGCCAATCTGGCGAAACCCCGTCTCTACTAAAAATACAGAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCT
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Task1_train_20503
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A mutation found in NOP10 (NOP10 ribonucleoprotein) on Chromosome 15 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2
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GTGACTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGTGAGGAGTTTGAGACCAGCTTGGCCGACATGGCGAAACCCTGTCACTACTAAAAGAAATACAAAAATTAGCCAGGTGTGGTGGCGTGCACCTGTAATCCCAGTTACTTGGGAAGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGACGGAGGTTGTAGTCAGCCAAGGCTGCACCCCTGCACTCCAGCCTGGACAACAGATCTAGACTCTGTCTCAAAAGAAAAAAAAAGAAAGGCCCACCACTAAATCAATTTGAGTTCAAAGATAAGTTAATCAGGAGAAAAATCAGACTAAACAGGTTAAGTAACTTTCTCAAAGTTATACAAAAAGCAAATACTGGTCTTCTGACTTTCAATTCACTGACCTCTGTCTGTAATATGCCTATTACTTTTACAAGTACTCTTCCATTTTTAATCAAAATCTTATTTCAAGGGACAAGAAATTACGTTAAGTGACAACAGAGGTATTTTTCAGTGAATGCTGACAGCTGTGAAAGTCTTAATCTTTCTTCCCCAATACCCTCCTATCATGAACAGCACATGACCACTCTTGCAACAGCAGGACTGAAGTTTTTCTTCCAAGTGGTATTGTTGCAACTCTCTGGGGTACTCTCCTTTATCATCTCCCTCCCTTTAAAAAAATACTGCCAATCCTTTCCTCCAACAACTCACAAAATAAGAGTTTTTCAAATCATTTTATCTTTAATAATCTTGTAGTAATTTAAAATATGAGAAAAAAAAGTCAAATGTGTTCCCTTTATGGGTGATGCCACCATGATTGCCTCACACAAGCATAATCAATCGCCACGAGAGACTGGATGCCAAAGAGTATGGCTGGCAAAAAGGCATCAGGGCTCACAGTCCGAAGAGTTTGGTTACGGAGTCTCCGAGGGGTAACAGGTGGCAGAAAAGACATCAGTTTAAGGGACCCTCAGAGGACAGGGCGCGGTTGCTGGGTCATGAGCACCTTGAAGCGTTTCTTGATGGTGATTCGGTGTCGAGAGTATTTGTCATCTGGGGAGAACCGAGCAGGATGGGCTGAGCAGGTCTGTTGTCCCATCGGGTCAAATTTCTGCTCCAGGAACACAGAATGTATGTCAGTACAGGAGTGATGAAATGGGGTGGGGCCAGCGCGAAAAAGGGCAAACATGAAAATAGAAGATGCAATGGTCAACTCAAAAAGTTGTACAAATAAATAGAGAAATATAAAATTTAAAAAGGCCGAGCGCGGTGGCTCACGCCTGTAATCCTGGCACTTTGGGAGGTCGAGGCGGGAGGATGGTTTGAGACCAGCCTGGGCAATATGGCGAAACCTCGTCTCTACAACAAACAAACAAACAAAACCAACCAACCAAACAAAAAACCCCAAAACCAAAAATTAGCCGGGTATGGTGGCGCACGCCTGTAGTCCCAACTACTCGGGAGGCTGAGGCAGAAGGATTGTTTGAGCCCAGGAGGCGGAGGTTGCAGTGAGCCGAGACCGCACCACCGCACTACAGCCTAGGCAACAAAGCGAGTCCCTGTCTTTAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGTGAGTGCAATGGCGCTATCCCGGCTCACTGCAACCTCTGCCTCCCGGGTTTAAGCGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATAACAGGCGCACACCGCCATGCCCGGCTAATTTTTTGTATTTTAGTAGAAACGGAGTTTCACAGTGTTGCCCAGAATGGTCGCGAACTCCTGAGCTAAGGCAATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGGGAGCCACTGCGCCCCGCCAGAATTTTTTCTTTTAATTAAAAAATGAGTCGCGCGGTCCCGGTTCTTCCCCACCTCGGTTCTGGACTTTCTGGTTCCCCGCACCCAGCTAGGTAACTCCACGTATGACCTCACCCACTCCTCCCATCTACATTTCTCGCCATGCCTATTTACACCCTGTTTTCTCTCCTCACCTTCAGCGTATAGACTCGATCTCCCTGCTCGTTGAGGTAATACTGGAGAAACATGATCGCTTATAAGCCAGCGGTCCCAATTCGGTCCACCGCTCAGTCTGCAGTGGTCCGCCCGACCGCGTCACGTGTTCGTCAATTTCCTTCCTGCATAACCGGAAGTCTCTCTCTCCTGGCACTCCGGAAAATGTAGTCAATTTTTGCCTTGTTTTCAGCTAGCCAGAAGGGGGCGCACGAGAGCAGGGCTTGGCTTGGGGCCCTACTTGCAACTTTGCAGGCTAAAACACGTGGAGTGTCCCTACTGTGTGCTAGGTACACGGCGTTAGAGGGGGGTAGGGATGGATGTGGATAGAATATTGACGTATAGAAGCCTGTCTTTGTCTCAAGATACACACCCATTTCAGGAGCAGTGAGTTTTCAATGCCTGAAGAAACAAGGGCTCCAGGATTCAGAGCCCCTTTACCCTAGGGAAGAAAGAAGAGGTTTTCTTCCCTCCCCTCTTTTACATCCAGTTCCCCTGCTCCATTTCAAAGCGTTGGCGGTAAAGAATGCATGTTGAGTATCAATATTCCGTAAAGCGAAAGAGCGTAAAGTTATTTTATGAAACTGGTGAAGCATGTTTCAGCGGTCGAACCAAGATTTAAAGTTAGGTCCCTACCGCAAATTCAGCGCTCTTTCTTATGGTGGTGAGTAGCTAATAATAACGTAATAAAGTGCACCTTCTAGGAGTTTTTACAATTTTTAAAAGAATATAGAAGTTCTCCTTATAAGACTCTCGTTTAAAGAAATGAAAATGAGAACCAAAATATCATTACAAAGATCATCGTTACGCCATTATTTACAATGACAAAAGCATTGGAATATATATTAACTGTGTAACCAGAAAAACCTGCACTTTTTTTTTTTTTTTTTTAAGAATATGGTTTGGCGGGGCGCGGTGGCTCACGCCTGTAATCCCAACACTGGGAGGCTGAGGCAGGCAGATCACAGGTCAAGGGTTCGAGACCAGCCTGGCCAATCTGGCGAAACCCCGTCTCTACTAAAAATACAGAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTTCAGAGGCTGAGGCAGGAGAATCATTTGAGCCGGGGAGGCAGAGGTTGCAGCGAGCTGAGATAGCACCACTGCACTCCAGCCTGGGTCCGTCTTAAAGAAAAAAAAATATGGTTTGTGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGACGGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCCCAAAAATACAAAAATTAGCGGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGATCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAATATGGTTTGTATTTACTTGTAGTTGCATAAAAAATCTCTGCAAGTATTCACAAGAAACAGATGATACTGGTTTCCTCTGGGATAGAGAACTTAGTTGCAGGAGAAAGGGGTAAGGGTTGGGAGGCAGACTTATTGCTATGTATTTTATTACGCAGTTTGATTTTTGAACCTTGCTAATGTATTTATTACCTGTTAAAAATTTTTTAAAGGCCGGGCACGGTGGCTCACGCCTAGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACTATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGTGGGTGCCTGTAGTCCCAGCTACTCAGGAGGGTGAGGCAGGACAATGGCGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCAGAGATCACGCCACTGCACTACAGCCTGGGTGACAGAGCGAGACTCTGTTTAAAAAAAAAAATTTAAATCTAAGTAGTTAATTTTGTTAGAAAGGAAAATGATGATTTT
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GTGACTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGTGAGGAGTTTGAGACCAGCTTGGCCGACATGGCGAAACCCTGTCACTACTAAAAGAAATACAAAAATTAGCCAGGTGTGGTGGCGTGCACCTGTAATCCCAGTTACTTGGGAAGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGACGGAGGTTGTAGTCAGCCAAGGCTGCACCCCTGCACTCCAGCCTGGACAACAGATCTAGACTCTGTCTCAAAAGAAAAAAAAAGAAAGGCCCACCACTAAATCAATTTGAGTTCAAAGATAAGTTAATCAGGAGAAAAATCAGACTAAACAGGTTAAGTAACTTTCTCAAAGTTATACAAAAAGCAAATACTGGTCTTCTGACTTTCAATTCACTGACCTCTGTCTGTAATATGCCTATTACTTTTACAAGTACTCTTCCATTTTTAATCAAAATCTTATTTCAAGGGACAAGAAATTACGTTAAGTGACAACAGAGGTATTTTTCAGTGAATGCTGACAGCTGTGAAAGTCTTAATCTTTCTTCCCCAATACCCTCCTATCATGAACAGCACATGACCACTCTTGCAACAGCAGGACTGAAGTTTTTCTTCCAAGTGGTATTGTTGCAACTCTCTGGGGTACTCTCCTTTATCATCTCCCTCCCTTTAAAAAAATACTGCCAATCCTTTCCTCCAACAACTCACAAAATAAGAGTTTTTCAAATCATTTTATCTTTAATAATCTTGTAGTAATTTAAAATATGAGAAAAAAAAGTCAAATGTGTTCCCTTTATGGGTGATGCCACCATGATTGCCTCACACAAGCATAATCAATCGCCACGAGAGACTGGATGCCAAAGAGTATGGCTGGCAAAAAGGCATCAGGGCTCACAGTCCGAAGAGTTTGGTTACGGAGTCTCCGAGGGGTAACAGGTGGCAGAAAAGACATCAGTTTAAGGGACCCTCAGAGGACAGGGCGCGGTTGCTGGGTCATGAGCACCTTGAAGCGTTTCTTGATGGTGATTCGGTGTCGAGAGTATTTGTCATCTGGGGAGAACCGAGCAGGATGGGCTGAGCAGGTCTGTTGTCCCATCGGGTCAAATTTCTGCTCCAGGAACACAGAATGTATGTCAGTACAGGAGTGATGAAATGGGGTGGGGCCAGCGCGAAAAAGGGCAAACATGAAAATAGAAGATGCAATGGTCAACTCAAAAAGTTGTACAAATAAATAGAGAAATATAAAATTTAAAAAGGCCGAGCGCGGTGGCTCACGCCTGTAATCCTGGCACTTTGGGAGGTCGAGGCGGGAGGATGGTTTGAGACCAGCCTGGGCAATATGGCGAAACCTCGTCTCTACAACAAACAAACAAACAAAACCAACCAACCAAACAAAAAACCCCAAAACCAAAAATTAGCCGGGTATGGTGGCGCACGCCTGTAGTCCCAACTACTCGGGAGGCTGAGGCAGAAGGATTGTTTGAGCCCAGGAGGCGGAGGTTGCAGTGAGCCGAGACCGCACCACCGCACTACAGCCTAGGCAACAAAGCGAGTCCCTGTCTTTAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGTGAGTGCAATGGCGCTATCCCGGCTCACTGCAACCTCTGCCTCCCGGGTTTAAGCGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATAACAGGCGCACACCGCCATGCCCGGCTAATTTTTTGTATTTTAGTAGAAACGGAGTTTCACAGTGTTGCCCAGAATGGTCGCGAACTCCTGAGCTAAGGCAATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGGGAGCCACTGCGCCCCGCCAGAATTTTTTCTTTTAATTAAAAAATGAGTCGCGCGGTCCCGGTTCTTCCCCACCTCGGTTCTGGACTTTCTGGTTCCCCGCACCCAGCTAGGTAACTCCACGTATGACCTCACCCACTCCTCCCATCTACATTTCTCGCCATGCCTATTTACACCCTGTTTTCTCTCCTCACCTTCAGCATATAGACTCGATCTCCCTGCTCGTTGAGGTAATACTGGAGAAACATGATCGCTTATAAGCCAGCGGTCCCAATTCGGTCCACCGCTCAGTCTGCAGTGGTCCGCCCGACCGCGTCACGTGTTCGTCAATTTCCTTCCTGCATAACCGGAAGTCTCTCTCTCCTGGCACTCCGGAAAATGTAGTCAATTTTTGCCTTGTTTTCAGCTAGCCAGAAGGGGGCGCACGAGAGCAGGGCTTGGCTTGGGGCCCTACTTGCAACTTTGCAGGCTAAAACACGTGGAGTGTCCCTACTGTGTGCTAGGTACACGGCGTTAGAGGGGGGTAGGGATGGATGTGGATAGAATATTGACGTATAGAAGCCTGTCTTTGTCTCAAGATACACACCCATTTCAGGAGCAGTGAGTTTTCAATGCCTGAAGAAACAAGGGCTCCAGGATTCAGAGCCCCTTTACCCTAGGGAAGAAAGAAGAGGTTTTCTTCCCTCCCCTCTTTTACATCCAGTTCCCCTGCTCCATTTCAAAGCGTTGGCGGTAAAGAATGCATGTTGAGTATCAATATTCCGTAAAGCGAAAGAGCGTAAAGTTATTTTATGAAACTGGTGAAGCATGTTTCAGCGGTCGAACCAAGATTTAAAGTTAGGTCCCTACCGCAAATTCAGCGCTCTTTCTTATGGTGGTGAGTAGCTAATAATAACGTAATAAAGTGCACCTTCTAGGAGTTTTTACAATTTTTAAAAGAATATAGAAGTTCTCCTTATAAGACTCTCGTTTAAAGAAATGAAAATGAGAACCAAAATATCATTACAAAGATCATCGTTACGCCATTATTTACAATGACAAAAGCATTGGAATATATATTAACTGTGTAACCAGAAAAACCTGCACTTTTTTTTTTTTTTTTTTAAGAATATGGTTTGGCGGGGCGCGGTGGCTCACGCCTGTAATCCCAACACTGGGAGGCTGAGGCAGGCAGATCACAGGTCAAGGGTTCGAGACCAGCCTGGCCAATCTGGCGAAACCCCGTCTCTACTAAAAATACAGAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTTCAGAGGCTGAGGCAGGAGAATCATTTGAGCCGGGGAGGCAGAGGTTGCAGCGAGCTGAGATAGCACCACTGCACTCCAGCCTGGGTCCGTCTTAAAGAAAAAAAAATATGGTTTGTGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGACGGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCCCAAAAATACAAAAATTAGCGGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGATCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAATATGGTTTGTATTTACTTGTAGTTGCATAAAAAATCTCTGCAAGTATTCACAAGAAACAGATGATACTGGTTTCCTCTGGGATAGAGAACTTAGTTGCAGGAGAAAGGGGTAAGGGTTGGGAGGCAGACTTATTGCTATGTATTTTATTACGCAGTTTGATTTTTGAACCTTGCTAATGTATTTATTACCTGTTAAAAATTTTTTAAAGGCCGGGCACGGTGGCTCACGCCTAGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACTATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGTGGGTGCCTGTAGTCCCAGCTACTCAGGAGGGTGAGGCAGGACAATGGCGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCAGAGATCACGCCACTGCACTACAGCCTGGGTGACAGAGCGAGACTCTGTTTAAAAAAAAAAATTTAAATCTAAGTAGTTAATTTTGTTAGAAAGGAAAATGATGATTTT
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Task1_train_20504
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Gene NOP10 (NOP10 ribonucleoprotein), found on Chromosome 15, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9
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GGAGGCTGAGGTGGGTGGATCACTTGAGGTGAGGAGTTTGAGACCAGCTTGGCCGACATGGCGAAACCCTGTCACTACTAAAAGAAATACAAAAATTAGCCAGGTGTGGTGGCGTGCACCTGTAATCCCAGTTACTTGGGAAGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGACGGAGGTTGTAGTCAGCCAAGGCTGCACCCCTGCACTCCAGCCTGGACAACAGATCTAGACTCTGTCTCAAAAGAAAAAAAAAGAAAGGCCCACCACTAAATCAATTTGAGTTCAAAGATAAGTTAATCAGGAGAAAAATCAGACTAAACAGGTTAAGTAACTTTCTCAAAGTTATACAAAAAGCAAATACTGGTCTTCTGACTTTCAATTCACTGACCTCTGTCTGTAATATGCCTATTACTTTTACAAGTACTCTTCCATTTTTAATCAAAATCTTATTTCAAGGGACAAGAAATTACGTTAAGTGACAACAGAGGTATTTTTCAGTGAATGCTGACAGCTGTGAAAGTCTTAATCTTTCTTCCCCAATACCCTCCTATCATGAACAGCACATGACCACTCTTGCAACAGCAGGACTGAAGTTTTTCTTCCAAGTGGTATTGTTGCAACTCTCTGGGGTACTCTCCTTTATCATCTCCCTCCCTTTAAAAAAATACTGCCAATCCTTTCCTCCAACAACTCACAAAATAAGAGTTTTTCAAATCATTTTATCTTTAATAATCTTGTAGTAATTTAAAATATGAGAAAAAAAAGTCAAATGTGTTCCCTTTATGGGTGATGCCACCATGATTGCCTCACACAAGCATAATCAATCGCCACGAGAGACTGGATGCCAAAGAGTATGGCTGGCAAAAAGGCATCAGGGCTCACAGTCCGAAGAGTTTGGTTACGGAGTCTCCGAGGGGTAACAGGTGGCAGAAAAGACATCAGTTTAAGGGACCCTCAGAGGACAGGGCGCGGTTGCTGGGTCATGAGCACCTTGAAGCGTTTCTTGATGGTGATTCGGTGTCGAGAGTATTTGTCATCTGGGGAGAACCGAGCAGGATGGGCTGAGCAGGTCTGTTGTCCCATCGGGTCAAATTTCTGCTCCAGGAACACAGAATGTATGTCAGTACAGGAGTGATGAAATGGGGTGGGGCCAGCGCGAAAAAGGGCAAACATGAAAATAGAAGATGCAATGGTCAACTCAAAAAGTTGTACAAATAAATAGAGAAATATAAAATTTAAAAAGGCCGAGCGCGGTGGCTCACGCCTGTAATCCTGGCACTTTGGGAGGTCGAGGCGGGAGGATGGTTTGAGACCAGCCTGGGCAATATGGCGAAACCTCGTCTCTACAACAAACAAACAAACAAAACCAACCAACCAAACAAAAAACCCCAAAACCAAAAATTAGCCGGGTATGGTGGCGCACGCCTGTAGTCCCAACTACTCGGGAGGCTGAGGCAGAAGGATTGTTTGAGCCCAGGAGGCGGAGGTTGCAGTGAGCCGAGACCGCACCACCGCACTACAGCCTAGGCAACAAAGCGAGTCCCTGTCTTTAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGTGAGTGCAATGGCGCTATCCCGGCTCACTGCAACCTCTGCCTCCCGGGTTTAAGCGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATAACAGGCGCACACCGCCATGCCCGGCTAATTTTTTGTATTTTAGTAGAAACGGAGTTTCACAGTGTTGCCCAGAATGGTCGCGAACTCCTGAGCTAAGGCAATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGGGAGCCACTGCGCCCCGCCAGAATTTTTTCTTTTAATTAAAAAATGAGTCGCGCGGTCCCGGTTCTTCCCCACCTCGGTTCTGGACTTTCTGGTTCCCCGCACCCAGCTAGGTAACTCCACGTATGACCTCACCCACTCCTCCCATCTACATTTCTCGCCATGCCTATTTACACCCTGTTTTCTCTCCTCACCTTCAGCGTATAGACTCGATCTCCCTGCTCGTTGAGGTAATACTGGAGAAACATGATCGCTTATAAGCCAGCGGTCCCAATTCGGTCCACCGCTCAGTCTGCAGTGGTCCGCCCGACCGCGTCACGTGTTCGTCAATTTCCTTCCTGCATAACCGGAAGTCTCTCTCTCCTGGCACTCCGGAAAATGTAGTCAATTTTTGCCTTGTTTTCAGCTAGCCAGAAGGGGGCGCACGAGAGCAGGGCTTGGCTTGGGGCCCTACTTGCAACTTTGCAGGCTAAAACACGTGGAGTGTCCCTACTGTGTGCTAGGTACACGGCGTTAGAGGGGGGTAGGGATGGATGTGGATAGAATATTGACGTATAGAAGCCTGTCTTTGTCTCAAGATACACACCCATTTCAGGAGCAGTGAGTTTTCAATGCCTGAAGAAACAAGGGCTCCAGGATTCAGAGCCCCTTTACCCTAGGGAAGAAAGAAGAGGTTTTCTTCCCTCCCCTCTTTTACATCCAGTTCCCCTGCTCCATTTCAAAGCGTTGGCGGTAAAGAATGCATGTTGAGTATCAATATTCCGTAAAGCGAAAGAGCGTAAAGTTATTTTATGAAACTGGTGAAGCATGTTTCAGCGGTCGAACCAAGATTTAAAGTTAGGTCCCTACCGCAAATTCAGCGCTCTTTCTTATGGTGGTGAGTAGCTAATAATAACGTAATAAAGTGCACCTTCTAGGAGTTTTTACAATTTTTAAAAGAATATAGAAGTTCTCCTTATAAGACTCTCGTTTAAAGAAATGAAAATGAGAACCAAAATATCATTACAAAGATCATCGTTACGCCATTATTTACAATGACAAAAGCATTGGAATATATATTAACTGTGTAACCAGAAAAACCTGCACTTTTTTTTTTTTTTTTTTAAGAATATGGTTTGGCGGGGCGCGGTGGCTCACGCCTGTAATCCCAACACTGGGAGGCTGAGGCAGGCAGATCACAGGTCAAGGGTTCGAGACCAGCCTGGCCAATCTGGCGAAACCCCGTCTCTACTAAAAATACAGAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTTCAGAGGCTGAGGCAGGAGAATCATTTGAGCCGGGGAGGCAGAGGTTGCAGCGAGCTGAGATAGCACCACTGCACTCCAGCCTGGGTCCGTCTTAAAGAAAAAAAAATATGGTTTGTGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGACGGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCCCAAAAATACAAAAATTAGCGGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGATCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAATATGGTTTGTATTTACTTGTAGTTGCATAAAAAATCTCTGCAAGTATTCACAAGAAACAGATGATACTGGTTTCCTCTGGGATAGAGAACTTAGTTGCAGGAGAAAGGGGTAAGGGTTGGGAGGCAGACTTATTGCTATGTATTTTATTACGCAGTTTGATTTTTGAACCTTGCTAATGTATTTATTACCTGTTAAAAATTTTTTAAAGGCCGGGCACGGTGGCTCACGCCTAGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACTATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGTGGGTGCCTGTAGTCCCAGCTACTCAGGAGGGTGAGGCAGGACAATGGCGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCAGAGATCACGCCACTGCACTACAGCCTGGGTGACAGAGCGAGACTCTGTTTAAAAAAAAAAATTTAAATCTAAGTAGTTAATTTTGTTAGAAAGGAAAATGATGATTTTAGCCTTCAGGTCTTTAGAAAAGAGAAAAGA
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GGAGGCTGAGGTGGGTGGATCACTTGAGGTGAGGAGTTTGAGACCAGCTTGGCCGACATGGCGAAACCCTGTCACTACTAAAAGAAATACAAAAATTAGCCAGGTGTGGTGGCGTGCACCTGTAATCCCAGTTACTTGGGAAGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGACGGAGGTTGTAGTCAGCCAAGGCTGCACCCCTGCACTCCAGCCTGGACAACAGATCTAGACTCTGTCTCAAAAGAAAAAAAAAGAAAGGCCCACCACTAAATCAATTTGAGTTCAAAGATAAGTTAATCAGGAGAAAAATCAGACTAAACAGGTTAAGTAACTTTCTCAAAGTTATACAAAAAGCAAATACTGGTCTTCTGACTTTCAATTCACTGACCTCTGTCTGTAATATGCCTATTACTTTTACAAGTACTCTTCCATTTTTAATCAAAATCTTATTTCAAGGGACAAGAAATTACGTTAAGTGACAACAGAGGTATTTTTCAGTGAATGCTGACAGCTGTGAAAGTCTTAATCTTTCTTCCCCAATACCCTCCTATCATGAACAGCACATGACCACTCTTGCAACAGCAGGACTGAAGTTTTTCTTCCAAGTGGTATTGTTGCAACTCTCTGGGGTACTCTCCTTTATCATCTCCCTCCCTTTAAAAAAATACTGCCAATCCTTTCCTCCAACAACTCACAAAATAAGAGTTTTTCAAATCATTTTATCTTTAATAATCTTGTAGTAATTTAAAATATGAGAAAAAAAAGTCAAATGTGTTCCCTTTATGGGTGATGCCACCATGATTGCCTCACACAAGCATAATCAATCGCCACGAGAGACTGGATGCCAAAGAGTATGGCTGGCAAAAAGGCATCAGGGCTCACAGTCCGAAGAGTTTGGTTACGGAGTCTCCGAGGGGTAACAGGTGGCAGAAAAGACATCAGTTTAAGGGACCCTCAGAGGACAGGGCGCGGTTGCTGGGTCATGAGCACCTTGAAGCGTTTCTTGATGGTGATTCGGTGTCGAGAGTATTTGTCATCTGGGGAGAACCGAGCAGGATGGGCTGAGCAGGTCTGTTGTCCCATCGGGTCAAATTTCTGCTCCAGGAACACAGAATGTATGTCAGTACAGGAGTGATGAAATGGGGTGGGGCCAGCGCGAAAAAGGGCAAACATGAAAATAGAAGATGCAATGGTCAACTCAAAAAGTTGTACAAATAAATAGAGAAATATAAAATTTAAAAAGGCCGAGCGCGGTGGCTCACGCCTGTAATCCTGGCACTTTGGGAGGTCGAGGCGGGAGGATGGTTTGAGACCAGCCTGGGCAATATGGCGAAACCTCGTCTCTACAACAAACAAACAAACAAAACCAACCAACCAAACAAAAAACCCCAAAACCAAAAATTAGCCGGGTATGGTGGCGCACGCCTGTAGTCCCAACTACTCGGGAGGCTGAGGCAGAAGGATTGTTTGAGCCCAGGAGGCGGAGGTTGCAGTGAGCCGAGACCGCACCACCGCACTACAGCCTAGGCAACAAAGCGAGTCCCTGTCTTTAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGTGAGTGCAATGGCGCTATCCCGGCTCACTGCAACCTCTGCCTCCCGGGTTTAAGCGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATAACAGGCGCACACCGCCATGCCCGGCTAATTTTTTGTATTTTAGTAGAAACGGAGTTTCACAGTGTTGCCCAGAATGGTCGCGAACTCCTGAGCTAAGGCAATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGGGAGCCACTGCGCCCCGCCAGAATTTTTTCTTTTAATTAAAAAATGAGTCGCGCGGTCCCGGTTCTTCCCCACCTCGGTTCTGGACTTTCTGGTTCCCCGCACCCAGCTAGGTAACTCCACGTATGACCTCACCCACTCCTCCCATCTACATTTCTCGCCATGCCTATTTACACCCTGTTTTCTCTCCTCACCTTCAGCGTATAGACTCGATCTCCCTGCTCGTTGAGGCAATACTGGAGAAACATGATCGCTTATAAGCCAGCGGTCCCAATTCGGTCCACCGCTCAGTCTGCAGTGGTCCGCCCGACCGCGTCACGTGTTCGTCAATTTCCTTCCTGCATAACCGGAAGTCTCTCTCTCCTGGCACTCCGGAAAATGTAGTCAATTTTTGCCTTGTTTTCAGCTAGCCAGAAGGGGGCGCACGAGAGCAGGGCTTGGCTTGGGGCCCTACTTGCAACTTTGCAGGCTAAAACACGTGGAGTGTCCCTACTGTGTGCTAGGTACACGGCGTTAGAGGGGGGTAGGGATGGATGTGGATAGAATATTGACGTATAGAAGCCTGTCTTTGTCTCAAGATACACACCCATTTCAGGAGCAGTGAGTTTTCAATGCCTGAAGAAACAAGGGCTCCAGGATTCAGAGCCCCTTTACCCTAGGGAAGAAAGAAGAGGTTTTCTTCCCTCCCCTCTTTTACATCCAGTTCCCCTGCTCCATTTCAAAGCGTTGGCGGTAAAGAATGCATGTTGAGTATCAATATTCCGTAAAGCGAAAGAGCGTAAAGTTATTTTATGAAACTGGTGAAGCATGTTTCAGCGGTCGAACCAAGATTTAAAGTTAGGTCCCTACCGCAAATTCAGCGCTCTTTCTTATGGTGGTGAGTAGCTAATAATAACGTAATAAAGTGCACCTTCTAGGAGTTTTTACAATTTTTAAAAGAATATAGAAGTTCTCCTTATAAGACTCTCGTTTAAAGAAATGAAAATGAGAACCAAAATATCATTACAAAGATCATCGTTACGCCATTATTTACAATGACAAAAGCATTGGAATATATATTAACTGTGTAACCAGAAAAACCTGCACTTTTTTTTTTTTTTTTTTAAGAATATGGTTTGGCGGGGCGCGGTGGCTCACGCCTGTAATCCCAACACTGGGAGGCTGAGGCAGGCAGATCACAGGTCAAGGGTTCGAGACCAGCCTGGCCAATCTGGCGAAACCCCGTCTCTACTAAAAATACAGAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTTCAGAGGCTGAGGCAGGAGAATCATTTGAGCCGGGGAGGCAGAGGTTGCAGCGAGCTGAGATAGCACCACTGCACTCCAGCCTGGGTCCGTCTTAAAGAAAAAAAAATATGGTTTGTGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGACGGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCCCAAAAATACAAAAATTAGCGGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGATCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAATATGGTTTGTATTTACTTGTAGTTGCATAAAAAATCTCTGCAAGTATTCACAAGAAACAGATGATACTGGTTTCCTCTGGGATAGAGAACTTAGTTGCAGGAGAAAGGGGTAAGGGTTGGGAGGCAGACTTATTGCTATGTATTTTATTACGCAGTTTGATTTTTGAACCTTGCTAATGTATTTATTACCTGTTAAAAATTTTTTAAAGGCCGGGCACGGTGGCTCACGCCTAGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACTATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGTGGGTGCCTGTAGTCCCAGCTACTCAGGAGGGTGAGGCAGGACAATGGCGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCAGAGATCACGCCACTGCACTACAGCCTGGGTGACAGAGCGAGACTCTGTTTAAAAAAAAAAATTTAAATCTAAGTAGTTAATTTTGTTAGAAAGGAAAATGATGATTTTAGCCTTCAGGTCTTTAGAAAAGAGAAAAGA
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Task1_train_20505
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Consider this mutation in ACTC1, GJD2-DT (actin alpha cardiac muscle 1| GJD2 divergent transcript) on Chromosome 15. Is this a benign change or a disease-causing variant?
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Pathogenic; Atrial septal defect 5
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TGTACAGAGGAAAAGAAAGAGACACAAAAACTAGTGAAATCATACCTCCCCATGCATGGCTTTTAAACCAGTTCAACTGTGCTATAGGATACAATGGGGTGGTGGGGGCGGGGGGCATATGTACAATAATGTTTGCACCTTATCTAAATAAAATGCCACCAAGTTGATGTATTATTTAGCCTTTATTGCATAGAAGGCCTTCCATTTGAATATGCTACATACAGAACTCTAAACTCTGAGCTTTTTATTCACAGAAAATGTGCTCTCATACATCTTTGTGTCCCCTGCCCTTAATACTATGCCCGACCCAGAGTCAGGGATCAAAAGATATTTTTGGTATGAATAGGCAAAAAGACACACATAGGACCTTGAATGACAGTGGCAATGTATTACAATTTATTAAAGATGTCTGATGAGTCCAGAGTACTCCAAATATTGAACCCAAATTCTCAAAAGGCATGTGATAGAATGGGGTTACCCTTGATAAACTATAAAGTTAGAAAGATTATTTTAGAGACACCATCAGAGTAGGTGTCAGAAAATCTGAGTTCCTGTCTAGCACATTCCACAAATAAAGTTTATAACATTGCACCAGTTGCTTAATCTCTGTGTCTTGAATCCTCATCAATAAAATTCAATTAAGTCTATTCAAACACTTCTGTGAATGCTAACAGTTCACTGGCAATTAATTTGAAAACAAAAATCTGTAAGGCTTCTGCAATCTAGTTGAAATCTACCTTTCCCAGTGGATTTTCTAAAATTCATCAGCACCTACCAGCCTGCCCCATGTCTTGTATCCTGGCTTCTGCCACACTTCCTTCTGCTGAGATGTCCTCTCTGCTCTTCTCACCTCCCTAATTCCTGACCATTCTCTAAGACCCAGACCCACATACATCTCCTTAAAGCCTCCAGGCCACACGCACTGGGGGATTATGTGTAGGTGTGTGAACTCCTCGAGGATGGAACACATTCAATTCTTTTCAACGCTGCCCCTAGCAGCCTTCCCACCATACTTTGCAGAGAGCTCTGCACAGAGCAAAGCAAACACTGTGGCTCTCGCCTCCCCTTGCTCCCTCAGGACCTCGCAGCCTTCAGTTCACTCAACCCAAGATCTCAAGATTTCAAAGAAACGAAGAGATTGAAGGCTTCTGTCTCGCAAGTTAGTCACTGATCAGGCAGAAGTGTTTGGCTCCTGCTTCCTCACATTTGTTTTGCACACACACAATGGTCTTGATATGTTTAGAGGGTATTTGCAATGGGATGTGGCTGGCCCAACTGTCAGCTAACCTTCATGTTTCTTTCATAGCCCCCAGGAAGAAAATTGAAGAGTTCAAAGAATTGAAAAGTTAAGCCAATTCATTTAAAATAATCTTTGACTTTCTCATTATCAATATATGTGTATTTTCTGCAAGGTTACAAAAACAACTGGAACATATGTTAAAATAATCTTCAGTGTCATCTGCAGCAACTAATTCTAGAGAACTATCTTATTCAATTTCATTTCTTACTTATATGGAACTAAACCTTAATCTGCTTTTCAGGTATGAAATATATTCATGATTCTGTCTCAAAATATGAAATCAAAAGTTAGCATTATAACTCCCAGCTAACTGTCATATTAATTCATCTGGATGAACCTTGTGGTACTGAACTTTGACAATGCTCAGGGTGTCAAAGCAAACACCTGCCCCACCCCACGCCTACCCCAAAAACAAACGAGAGGCTTTTATAGGTTGCAAGTCCTGGTCTGGTTTATTTATAAAGCAATAAATATTAGAAGCACAAACAAATTGCACGTGTGTAAACAAACTGTACAATGATTGATGAAAGATGAGGGAAGGTGGTTTGGAAGACTCCAAGAAGCATAATACCGTCATCCTGACTGGAAGGTAGATGGAGAGAGAAGGCATCTTAGAAGCATTTGCGGTGGACAATGGATGGGCCTGCCTCATCGTACTCTTGCTTGCTAATCCACATTTGCTGGAAGGTGGACAGAGAGGCCAGGATGGAGCCCCCAATCCAGACAGAGTATTTACGCTCAGGGGGAGCAATAATCTGCAGAAAGAAAACAAAAACTTCCAGTGAACTCTGAAGTTCCAAGCAAGGGAGCAAATAACACATTGGGAGGATTCACAGAAAAAAACCATTAGATATTAATTCGCTATAATGTGGGATATGTCATACCACGAAATAATGTGGCCAATCAAGTTATATGAACTCACCTCTATTTCATCATTTATATTATTAAAGATATATTCTATTATTAAAATGGAATTTCTCCACTTACCTAGAGTGTAATTTGGCAACAAGCTAAATGTGTAGTGGAGCCTAGCCCAAAAGTTGGGAGCTTTAAAAATGTATTCAAAGATTTTGTTGCGTGTGTGTGTGTCTTTTTTTTGTCAAAGATTTATTTTTATTCACTGCTTAAAAGCATTTTGGAAGTTACCTATCTTGGGAAAAGTGCTAAGAAAATCAGAAAAAGTGGTAGAAAAGCTAACAGGTAAAGTTTGTAGGAGACAAGAAACTGAGTATGAGGGAAAAGGAATTTGGAACGTAGTTCTGCTTAGAATACCAAGACTTGCCTCGGATCTCCCACTCACAAAAGTTCTTTACCTTAATCTTCATGGTGCTAGGAGCCAGAGCAGTGATTTCCTTCTGCATACGATCAGCAATACCAGGGTACATAGTGGTGCCTCCAGATAAGACATTGTTGGCATACAGGTCCTTGCGGATATCAATGTCACACTTCATGATGCTATTGTAAGTTGTTTCATGGATGCCAGCAGATTCCATACCTGGGAACGAGTCACACACACACACACACACACACACACACACACACACACACACACATCACAGTGCATTCAGGTCAAGGTAGAGGGAAGAGAACAGAACTTCTTTGTGTGGGGGAGCTGTCACCATTTGTCTCTGAAACATATGTTCCCCTATAAGACACACTGCAGGGTGGAATGGGTGCCTCACAGTTAATCCACAATACAATGCCAAGAAAGGAGCAACTGTGCTTAGCACCTGTTTCAAGTAAACACCTCCTGAAACTCTCAGATGTATGAAGATGTATTGGAAAAGGAAAAGATACACGTTTAAACTAAAATGAATGTAATTTTTGTTTATGGACTTAAATCAGATCCTGACAAAGTTCCTTATGGAAAGCATTGCTTAGGAAGGATATTTGTTGACATATAAGTGCCCAGTTATTAATATGAGTAGGAATGTTATTGCATTTAATGATGAGGAACTTGGAAAGTCCAGCTACTTGGTAGTGAAACTTACGGGAATAAGTCAGCTCTTGTGAACTAGCCCTTTTCCTGCAGATACGTGCTATTCAGTTACTACTCTGTGTCATCCTTTATTTTGAGATGAACTCAGTGTGTCATCCTTTATTATATCACTAGAGCAGAACATAGACTTCCCCTTTAATGAGCCATCAGGACTTGAGGTTGAGCTGTGTGGGAATCCAAACTATGACTTCTTTTAACTCAAGGGCTTCTTGAGCCTTCTAGATTTTACTCTGGGAGACCCTAAGATTTCCAGGGAAAATCGTGCCTCTGCACCAGACCCTACAACTCACCAATGAAGGAGGGCTGGAAGAGTGTCTCAGGACAGCGGAAGCGCTCATTGCCAATAGTGATGACTTGGCCATCAGGCAGTTCATAGCTCTTCTCCAGGGAGGAGGAAGAGGCAGCTGTGGCCATCTCATTCTCAAAATCCAGGGCGACATAGCACAGCTTCTCTTTAATGTCACGGACAATTTCACGTTCAGCTACAGAAATAAAGAGTATCACAGTCATGCTCTGAAGCAAGAAGTCAATTATAGGGAGGTAGGCGGATTCAGTGAGAGAGGAGGAAAGCAGACCCACACTGTGGCAGATGAGACACACACACTCACCAGTGGTGACAAAGGAGTAGCCACGCTCAGTGAGGATCTTCATGAGGTAGTCAGTGAGGTCCCGACCAGCCAGATCCAGACGCATGATGGCATGGGGCAAAGCGTAGCCCTCATAGATGGGGACATTGTGAGTTACACCATCCCCAGAGTCCAGAACAATGCCTGCCCGGGGAAGTAGACAAGAACAAG
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TGTACAGAGGAAAAGAAAGAGACACAAAAACTAGTGAAATCATACCTCCCCATGCATGGCTTTTAAACCAGTTCAACTGTGCTATAGGATACAATGGGGTGGTGGGGGCGGGGGGCATATGTACAATAATGTTTGCACCTTATCTAAATAAAATGCCACCAAGTTGATGTATTATTTAGCCTTTATTGCATAGAAGGCCTTCCATTTGAATATGCTACATACAGAACTCTAAACTCTGAGCTTTTTATTCACAGAAAATGTGCTCTCATACATCTTTGTGTCCCCTGCCCTTAATACTATGCCCGACCCAGAGTCAGGGATCAAAAGATATTTTTGGTATGAATAGGCAAAAAGACACACATAGGACCTTGAATGACAGTGGCAATGTATTACAATTTATTAAAGATGTCTGATGAGTCCAGAGTACTCCAAATATTGAACCCAAATTCTCAAAAGGCATGTGATAGAATGGGGTTACCCTTGATAAACTATAAAGTTAGAAAGATTATTTTAGAGACACCATCAGAGTAGGTGTCAGAAAATCTGAGTTCCTGTCTAGCACATTCCACAAATAAAGTTTATAACATTGCACCAGTTGCTTAATCTCTGTGTCTTGAATCCTCATCAATAAAATTCAATTAAGTCTATTCAAACACTTCTGTGAATGCTAACAGTTCACTGGCAATTAATTTGAAAACAAAAATCTGTAAGGCTTCTGCAATCTAGTTGAAATCTACCTTTCCCAGTGGATTTTCTAAAATTCATCAGCACCTACCAGCCTGCCCCATGTCTTGTATCCTGGCTTCTGCCACACTTCCTTCTGCTGAGATGTCCTCTCTGCTCTTCTCACCTCCCTAATTCCTGACCATTCTCTAAGACCCAGACCCACATACATCTCCTTAAAGCCTCCAGGCCACACGCACTGGGGGATTATGTGTAGGTGTGTGAACTCCTCGAGGATGGAACACATTCAATTCTTTTCAACGCTGCCCCTAGCAGCCTTCCCACCATACTTTGCAGAGAGCTCTGCACAGAGCAAAGCAAACACTGTGGCTCTCGCCTCCCCTTGCTCCCTCAGGACCTCGCAGCCTTCAGTTCACTCAACCCAAGATCTCAAGATTTCAAAGAAACGAAGAGATTGAAGGCTTCTGTCTCGCAAGTTAGTCACTGATCAGGCAGAAGTGTTTGGCTCCTGCTTCCTCACATTTGTTTTGCACACACACAATGGTCTTGATATGTTTAGAGGGTATTTGCAATGGGATGTGGCTGGCCCAACTGTCAGCTAACCTTCATGTTTCTTTCATAGCCCCCAGGAAGAAAATTGAAGAGTTCAAAGAATTGAAAAGTTAAGCCAATTCATTTAAAATAATCTTTGACTTTCTCATTATCAATATATGTGTATTTTCTGCAAGGTTACAAAAACAACTGGAACATATGTTAAAATAATCTTCAGTGTCATCTGCAGCAACTAATTCTAGAGAACTATCTTATTCAATTTCATTTCTTACTTATATGGAACTAAACCTTAATCTGCTTTTCAGGTATGAAATATATTCATGATTCTGTCTCAAAATATGAAATCAAAAGTTAGCATTATAACTCCCAGCTAACTGTCATATTAATTCATCTGGATGAACCTTGTGGTACTGAACTTTGACAATGCTCAGGGTGTCAAAGCAAACACCTGCCCCACCCCACGCCTACCCCAAAAACAAACGAGAGGCTTTTATAGGTTGCAAGTCCTGGTCTGGTTTATTTATAAAGCAATAAATATTAGAAGCACAAACAAATTGCACGTGTGTAAACAAACTGTACAATGATTGATGAAAGATGAGGGAAGGTGGTTTGGAAGACTCCAAGAAGCATAATACCGTCATCCTGACTGGAAGGTAGATGGAGAGAGAAGGCATCTTAGAAGCATTTGCGGTGGACAATGGATGGGCCTGCCTCATCGTACTCTTGCTTGCTAATCCACATTTGCTGGAAGGTGGACAGAGAGGCCAGGATGGAGCCCCCAATCCAGACAGAGTATTTACGCTCAGGGGGAGGAATAATCTGCAGAAAGAAAACAAAAACTTCCAGTGAACTCTGAAGTTCCAAGCAAGGGAGCAAATAACACATTGGGAGGATTCACAGAAAAAAACCATTAGATATTAATTCGCTATAATGTGGGATATGTCATACCACGAAATAATGTGGCCAATCAAGTTATATGAACTCACCTCTATTTCATCATTTATATTATTAAAGATATATTCTATTATTAAAATGGAATTTCTCCACTTACCTAGAGTGTAATTTGGCAACAAGCTAAATGTGTAGTGGAGCCTAGCCCAAAAGTTGGGAGCTTTAAAAATGTATTCAAAGATTTTGTTGCGTGTGTGTGTGTCTTTTTTTTGTCAAAGATTTATTTTTATTCACTGCTTAAAAGCATTTTGGAAGTTACCTATCTTGGGAAAAGTGCTAAGAAAATCAGAAAAAGTGGTAGAAAAGCTAACAGGTAAAGTTTGTAGGAGACAAGAAACTGAGTATGAGGGAAAAGGAATTTGGAACGTAGTTCTGCTTAGAATACCAAGACTTGCCTCGGATCTCCCACTCACAAAAGTTCTTTACCTTAATCTTCATGGTGCTAGGAGCCAGAGCAGTGATTTCCTTCTGCATACGATCAGCAATACCAGGGTACATAGTGGTGCCTCCAGATAAGACATTGTTGGCATACAGGTCCTTGCGGATATCAATGTCACACTTCATGATGCTATTGTAAGTTGTTTCATGGATGCCAGCAGATTCCATACCTGGGAACGAGTCACACACACACACACACACACACACACACACACACACACACACACATCACAGTGCATTCAGGTCAAGGTAGAGGGAAGAGAACAGAACTTCTTTGTGTGGGGGAGCTGTCACCATTTGTCTCTGAAACATATGTTCCCCTATAAGACACACTGCAGGGTGGAATGGGTGCCTCACAGTTAATCCACAATACAATGCCAAGAAAGGAGCAACTGTGCTTAGCACCTGTTTCAAGTAAACACCTCCTGAAACTCTCAGATGTATGAAGATGTATTGGAAAAGGAAAAGATACACGTTTAAACTAAAATGAATGTAATTTTTGTTTATGGACTTAAATCAGATCCTGACAAAGTTCCTTATGGAAAGCATTGCTTAGGAAGGATATTTGTTGACATATAAGTGCCCAGTTATTAATATGAGTAGGAATGTTATTGCATTTAATGATGAGGAACTTGGAAAGTCCAGCTACTTGGTAGTGAAACTTACGGGAATAAGTCAGCTCTTGTGAACTAGCCCTTTTCCTGCAGATACGTGCTATTCAGTTACTACTCTGTGTCATCCTTTATTTTGAGATGAACTCAGTGTGTCATCCTTTATTATATCACTAGAGCAGAACATAGACTTCCCCTTTAATGAGCCATCAGGACTTGAGGTTGAGCTGTGTGGGAATCCAAACTATGACTTCTTTTAACTCAAGGGCTTCTTGAGCCTTCTAGATTTTACTCTGGGAGACCCTAAGATTTCCAGGGAAAATCGTGCCTCTGCACCAGACCCTACAACTCACCAATGAAGGAGGGCTGGAAGAGTGTCTCAGGACAGCGGAAGCGCTCATTGCCAATAGTGATGACTTGGCCATCAGGCAGTTCATAGCTCTTCTCCAGGGAGGAGGAAGAGGCAGCTGTGGCCATCTCATTCTCAAAATCCAGGGCGACATAGCACAGCTTCTCTTTAATGTCACGGACAATTTCACGTTCAGCTACAGAAATAAAGAGTATCACAGTCATGCTCTGAAGCAAGAAGTCAATTATAGGGAGGTAGGCGGATTCAGTGAGAGAGGAGGAAAGCAGACCCACACTGTGGCAGATGAGACACACACACTCACCAGTGGTGACAAAGGAGTAGCCACGCTCAGTGAGGATCTTCATGAGGTAGTCAGTGAGGTCCCGACCAGCCAGATCCAGACGCATGATGGCATGGGGCAAAGCGTAGCCCTCATAGATGGGGACATTGTGAGTTACACCATCCCCAGAGTCCAGAACAATGCCTGCCCGGGGAAGTAGACAAGAACAAG
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Task1_train_20506
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An alteration has been detected in ACTC1, GJD2-DT (actin alpha cardiac muscle 1| GJD2 divergent transcript) on Chromosome 15. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Dilated cardiomyopathy 1R
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TGTACAGAGGAAAAGAAAGAGACACAAAAACTAGTGAAATCATACCTCCCCATGCATGGCTTTTAAACCAGTTCAACTGTGCTATAGGATACAATGGGGTGGTGGGGGCGGGGGGCATATGTACAATAATGTTTGCACCTTATCTAAATAAAATGCCACCAAGTTGATGTATTATTTAGCCTTTATTGCATAGAAGGCCTTCCATTTGAATATGCTACATACAGAACTCTAAACTCTGAGCTTTTTATTCACAGAAAATGTGCTCTCATACATCTTTGTGTCCCCTGCCCTTAATACTATGCCCGACCCAGAGTCAGGGATCAAAAGATATTTTTGGTATGAATAGGCAAAAAGACACACATAGGACCTTGAATGACAGTGGCAATGTATTACAATTTATTAAAGATGTCTGATGAGTCCAGAGTACTCCAAATATTGAACCCAAATTCTCAAAAGGCATGTGATAGAATGGGGTTACCCTTGATAAACTATAAAGTTAGAAAGATTATTTTAGAGACACCATCAGAGTAGGTGTCAGAAAATCTGAGTTCCTGTCTAGCACATTCCACAAATAAAGTTTATAACATTGCACCAGTTGCTTAATCTCTGTGTCTTGAATCCTCATCAATAAAATTCAATTAAGTCTATTCAAACACTTCTGTGAATGCTAACAGTTCACTGGCAATTAATTTGAAAACAAAAATCTGTAAGGCTTCTGCAATCTAGTTGAAATCTACCTTTCCCAGTGGATTTTCTAAAATTCATCAGCACCTACCAGCCTGCCCCATGTCTTGTATCCTGGCTTCTGCCACACTTCCTTCTGCTGAGATGTCCTCTCTGCTCTTCTCACCTCCCTAATTCCTGACCATTCTCTAAGACCCAGACCCACATACATCTCCTTAAAGCCTCCAGGCCACACGCACTGGGGGATTATGTGTAGGTGTGTGAACTCCTCGAGGATGGAACACATTCAATTCTTTTCAACGCTGCCCCTAGCAGCCTTCCCACCATACTTTGCAGAGAGCTCTGCACAGAGCAAAGCAAACACTGTGGCTCTCGCCTCCCCTTGCTCCCTCAGGACCTCGCAGCCTTCAGTTCACTCAACCCAAGATCTCAAGATTTCAAAGAAACGAAGAGATTGAAGGCTTCTGTCTCGCAAGTTAGTCACTGATCAGGCAGAAGTGTTTGGCTCCTGCTTCCTCACATTTGTTTTGCACACACACAATGGTCTTGATATGTTTAGAGGGTATTTGCAATGGGATGTGGCTGGCCCAACTGTCAGCTAACCTTCATGTTTCTTTCATAGCCCCCAGGAAGAAAATTGAAGAGTTCAAAGAATTGAAAAGTTAAGCCAATTCATTTAAAATAATCTTTGACTTTCTCATTATCAATATATGTGTATTTTCTGCAAGGTTACAAAAACAACTGGAACATATGTTAAAATAATCTTCAGTGTCATCTGCAGCAACTAATTCTAGAGAACTATCTTATTCAATTTCATTTCTTACTTATATGGAACTAAACCTTAATCTGCTTTTCAGGTATGAAATATATTCATGATTCTGTCTCAAAATATGAAATCAAAAGTTAGCATTATAACTCCCAGCTAACTGTCATATTAATTCATCTGGATGAACCTTGTGGTACTGAACTTTGACAATGCTCAGGGTGTCAAAGCAAACACCTGCCCCACCCCACGCCTACCCCAAAAACAAACGAGAGGCTTTTATAGGTTGCAAGTCCTGGTCTGGTTTATTTATAAAGCAATAAATATTAGAAGCACAAACAAATTGCACGTGTGTAAACAAACTGTACAATGATTGATGAAAGATGAGGGAAGGTGGTTTGGAAGACTCCAAGAAGCATAATACCGTCATCCTGACTGGAAGGTAGATGGAGAGAGAAGGCATCTTAGAAGCATTTGCGGTGGACAATGGATGGGCCTGCCTCATCGTACTCTTGCTTGCTAATCCACATTTGCTGGAAGGTGGACAGAGAGGCCAGGATGGAGCCCCCAATCCAGACAGAGTATTTACGCTCAGGGGGAGCAATAATCTGCAGAAAGAAAACAAAAACTTCCAGTGAACTCTGAAGTTCCAAGCAAGGGAGCAAATAACACATTGGGAGGATTCACAGAAAAAAACCATTAGATATTAATTCGCTATAATGTGGGATATGTCATACCACGAAATAATGTGGCCAATCAAGTTATATGAACTCACCTCTATTTCATCATTTATATTATTAAAGATATATTCTATTATTAAAATGGAATTTCTCCACTTACCTAGAGTGTAATTTGGCAACAAGCTAAATGTGTAGTGGAGCCTAGCCCAAAAGTTGGGAGCTTTAAAAATGTATTCAAAGATTTTGTTGCGTGTGTGTGTGTCTTTTTTTTGTCAAAGATTTATTTTTATTCACTGCTTAAAAGCATTTTGGAAGTTACCTATCTTGGGAAAAGTGCTAAGAAAATCAGAAAAAGTGGTAGAAAAGCTAACAGGTAAAGTTTGTAGGAGACAAGAAACTGAGTATGAGGGAAAAGGAATTTGGAACGTAGTTCTGCTTAGAATACCAAGACTTGCCTCGGATCTCCCACTCACAAAAGTTCTTTACCTTAATCTTCATGGTGCTAGGAGCCAGAGCAGTGATTTCCTTCTGCATACGATCAGCAATACCAGGGTACATAGTGGTGCCTCCAGATAAGACATTGTTGGCATACAGGTCCTTGCGGATATCAATGTCACACTTCATGATGCTATTGTAAGTTGTTTCATGGATGCCAGCAGATTCCATACCTGGGAACGAGTCACACACACACACACACACACACACACACACACACACACACACACATCACAGTGCATTCAGGTCAAGGTAGAGGGAAGAGAACAGAACTTCTTTGTGTGGGGGAGCTGTCACCATTTGTCTCTGAAACATATGTTCCCCTATAAGACACACTGCAGGGTGGAATGGGTGCCTCACAGTTAATCCACAATACAATGCCAAGAAAGGAGCAACTGTGCTTAGCACCTGTTTCAAGTAAACACCTCCTGAAACTCTCAGATGTATGAAGATGTATTGGAAAAGGAAAAGATACACGTTTAAACTAAAATGAATGTAATTTTTGTTTATGGACTTAAATCAGATCCTGACAAAGTTCCTTATGGAAAGCATTGCTTAGGAAGGATATTTGTTGACATATAAGTGCCCAGTTATTAATATGAGTAGGAATGTTATTGCATTTAATGATGAGGAACTTGGAAAGTCCAGCTACTTGGTAGTGAAACTTACGGGAATAAGTCAGCTCTTGTGAACTAGCCCTTTTCCTGCAGATACGTGCTATTCAGTTACTACTCTGTGTCATCCTTTATTTTGAGATGAACTCAGTGTGTCATCCTTTATTATATCACTAGAGCAGAACATAGACTTCCCCTTTAATGAGCCATCAGGACTTGAGGTTGAGCTGTGTGGGAATCCAAACTATGACTTCTTTTAACTCAAGGGCTTCTTGAGCCTTCTAGATTTTACTCTGGGAGACCCTAAGATTTCCAGGGAAAATCGTGCCTCTGCACCAGACCCTACAACTCACCAATGAAGGAGGGCTGGAAGAGTGTCTCAGGACAGCGGAAGCGCTCATTGCCAATAGTGATGACTTGGCCATCAGGCAGTTCATAGCTCTTCTCCAGGGAGGAGGAAGAGGCAGCTGTGGCCATCTCATTCTCAAAATCCAGGGCGACATAGCACAGCTTCTCTTTAATGTCACGGACAATTTCACGTTCAGCTACAGAAATAAAGAGTATCACAGTCATGCTCTGAAGCAAGAAGTCAATTATAGGGAGGTAGGCGGATTCAGTGAGAGAGGAGGAAAGCAGACCCACACTGTGGCAGATGAGACACACACACTCACCAGTGGTGACAAAGGAGTAGCCACGCTCAGTGAGGATCTTCATGAGGTAGTCAGTGAGGTCCCGACCAGCCAGATCCAGACGCATGATGGCATGGGGCAAAGCGTAGCCCTCATAGATGGGGACATTGTGAGTTACACCATCCCCAGAGTCCAGAACAATGCCTGCCCGGGGAAGTAGACAAGAACAAG
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TGTACAGAGGAAAAGAAAGAGACACAAAAACTAGTGAAATCATACCTCCCCATGCATGGCTTTTAAACCAGTTCAACTGTGCTATAGGATACAATGGGGTGGTGGGGGCGGGGGGCATATGTACAATAATGTTTGCACCTTATCTAAATAAAATGCCACCAAGTTGATGTATTATTTAGCCTTTATTGCATAGAAGGCCTTCCATTTGAATATGCTACATACAGAACTCTAAACTCTGAGCTTTTTATTCACAGAAAATGTGCTCTCATACATCTTTGTGTCCCCTGCCCTTAATACTATGCCCGACCCAGAGTCAGGGATCAAAAGATATTTTTGGTATGAATAGGCAAAAAGACACACATAGGACCTTGAATGACAGTGGCAATGTATTACAATTTATTAAAGATGTCTGATGAGTCCAGAGTACTCCAAATATTGAACCCAAATTCTCAAAAGGCATGTGATAGAATGGGGTTACCCTTGATAAACTATAAAGTTAGAAAGATTATTTTAGAGACACCATCAGAGTAGGTGTCAGAAAATCTGAGTTCCTGTCTAGCACATTCCACAAATAAAGTTTATAACATTGCACCAGTTGCTTAATCTCTGTGTCTTGAATCCTCATCAATAAAATTCAATTAAGTCTATTCAAACACTTCTGTGAATGCTAACAGTTCACTGGCAATTAATTTGAAAACAAAAATCTGTAAGGCTTCTGCAATCTAGTTGAAATCTACCTTTCCCAGTGGATTTTCTAAAATTCATCAGCACCTACCAGCCTGCCCCATGTCTTGTATCCTGGCTTCTGCCACACTTCCTTCTGCTGAGATGTCCTCTCTGCTCTTCTCACCTCCCTAATTCCTGACCATTCTCTAAGACCCAGACCCACATACATCTCCTTAAAGCCTCCAGGCCACACGCACTGGGGGATTATGTGTAGGTGTGTGAACTCCTCGAGGATGGAACACATTCAATTCTTTTCAACGCTGCCCCTAGCAGCCTTCCCACCATACTTTGCAGAGAGCTCTGCACAGAGCAAAGCAAACACTGTGGCTCTCGCCTCCCCTTGCTCCCTCAGGACCTCGCAGCCTTCAGTTCACTCAACCCAAGATCTCAAGATTTCAAAGAAACGAAGAGATTGAAGGCTTCTGTCTCGCAAGTTAGTCACTGATCAGGCAGAAGTGTTTGGCTCCTGCTTCCTCACATTTGTTTTGCACACACACAATGGTCTTGATATGTTTAGAGGGTATTTGCAATGGGATGTGGCTGGCCCAACTGTCAGCTAACCTTCATGTTTCTTTCATAGCCCCCAGGAAGAAAATTGAAGAGTTCAAAGAATTGAAAAGTTAAGCCAATTCATTTAAAATAATCTTTGACTTTCTCATTATCAATATATGTGTATTTTCTGCAAGGTTACAAAAACAACTGGAACATATGTTAAAATAATCTTCAGTGTCATCTGCAGCAACTAATTCTAGAGAACTATCTTATTCAATTTCATTTCTTACTTATATGGAACTAAACCTTAATCTGCTTTTCAGGTATGAAATATATTCATGATTCTGTCTCAAAATATGAAATCAAAAGTTAGCATTATAACTCCCAGCTAACTGTCATATTAATTCATCTGGATGAACCTTGTGGTACTGAACTTTGACAATGCTCAGGGTGTCAAAGCAAACACCTGCCCCACCCCACGCCTACCCCAAAAACAAACGAGAGGCTTTTATAGGTTGCAAGTCCTGGTCTGGTTTATTTATAAAGCAATAAATATTAGAAGCACAAACAAATTGCACGTGTGTAAACAAACTGTACAATGATTGATGAAAGATGAGGGAAGGTGGTTTGGAAGACTCCAAGAAGCATAATACCGTCATCCTGACTGGAAGGTAGATGGAGAGAGAAGGCATCTTAGAAGCATTTGCGGTGGACAATGGATGGGCCTGCCTCATCGTACTCTTGCTTGCTAATCCACATTTGCTGGAAGGTGGACAGAGAGGCCAGGATGGAGCCCCCAATCCAGACAGAGTATTTACGCTCAGGGGGAGGAATAATCTGCAGAAAGAAAACAAAAACTTCCAGTGAACTCTGAAGTTCCAAGCAAGGGAGCAAATAACACATTGGGAGGATTCACAGAAAAAAACCATTAGATATTAATTCGCTATAATGTGGGATATGTCATACCACGAAATAATGTGGCCAATCAAGTTATATGAACTCACCTCTATTTCATCATTTATATTATTAAAGATATATTCTATTATTAAAATGGAATTTCTCCACTTACCTAGAGTGTAATTTGGCAACAAGCTAAATGTGTAGTGGAGCCTAGCCCAAAAGTTGGGAGCTTTAAAAATGTATTCAAAGATTTTGTTGCGTGTGTGTGTGTCTTTTTTTTGTCAAAGATTTATTTTTATTCACTGCTTAAAAGCATTTTGGAAGTTACCTATCTTGGGAAAAGTGCTAAGAAAATCAGAAAAAGTGGTAGAAAAGCTAACAGGTAAAGTTTGTAGGAGACAAGAAACTGAGTATGAGGGAAAAGGAATTTGGAACGTAGTTCTGCTTAGAATACCAAGACTTGCCTCGGATCTCCCACTCACAAAAGTTCTTTACCTTAATCTTCATGGTGCTAGGAGCCAGAGCAGTGATTTCCTTCTGCATACGATCAGCAATACCAGGGTACATAGTGGTGCCTCCAGATAAGACATTGTTGGCATACAGGTCCTTGCGGATATCAATGTCACACTTCATGATGCTATTGTAAGTTGTTTCATGGATGCCAGCAGATTCCATACCTGGGAACGAGTCACACACACACACACACACACACACACACACACACACACACACACATCACAGTGCATTCAGGTCAAGGTAGAGGGAAGAGAACAGAACTTCTTTGTGTGGGGGAGCTGTCACCATTTGTCTCTGAAACATATGTTCCCCTATAAGACACACTGCAGGGTGGAATGGGTGCCTCACAGTTAATCCACAATACAATGCCAAGAAAGGAGCAACTGTGCTTAGCACCTGTTTCAAGTAAACACCTCCTGAAACTCTCAGATGTATGAAGATGTATTGGAAAAGGAAAAGATACACGTTTAAACTAAAATGAATGTAATTTTTGTTTATGGACTTAAATCAGATCCTGACAAAGTTCCTTATGGAAAGCATTGCTTAGGAAGGATATTTGTTGACATATAAGTGCCCAGTTATTAATATGAGTAGGAATGTTATTGCATTTAATGATGAGGAACTTGGAAAGTCCAGCTACTTGGTAGTGAAACTTACGGGAATAAGTCAGCTCTTGTGAACTAGCCCTTTTCCTGCAGATACGTGCTATTCAGTTACTACTCTGTGTCATCCTTTATTTTGAGATGAACTCAGTGTGTCATCCTTTATTATATCACTAGAGCAGAACATAGACTTCCCCTTTAATGAGCCATCAGGACTTGAGGTTGAGCTGTGTGGGAATCCAAACTATGACTTCTTTTAACTCAAGGGCTTCTTGAGCCTTCTAGATTTTACTCTGGGAGACCCTAAGATTTCCAGGGAAAATCGTGCCTCTGCACCAGACCCTACAACTCACCAATGAAGGAGGGCTGGAAGAGTGTCTCAGGACAGCGGAAGCGCTCATTGCCAATAGTGATGACTTGGCCATCAGGCAGTTCATAGCTCTTCTCCAGGGAGGAGGAAGAGGCAGCTGTGGCCATCTCATTCTCAAAATCCAGGGCGACATAGCACAGCTTCTCTTTAATGTCACGGACAATTTCACGTTCAGCTACAGAAATAAAGAGTATCACAGTCATGCTCTGAAGCAAGAAGTCAATTATAGGGAGGTAGGCGGATTCAGTGAGAGAGGAGGAAAGCAGACCCACACTGTGGCAGATGAGACACACACACTCACCAGTGGTGACAAAGGAGTAGCCACGCTCAGTGAGGATCTTCATGAGGTAGTCAGTGAGGTCCCGACCAGCCAGATCCAGACGCATGATGGCATGGGGCAAAGCGTAGCCCTCATAGATGGGGACATTGTGAGTTACACCATCCCCAGAGTCCAGAACAATGCCTGCCCGGGGAAGTAGACAAGAACAAG
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Task1_train_20507
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A genetic alteration is present in ACTC1, GJD2-DT (actin alpha cardiac muscle 1| GJD2 divergent transcript) on Chromosome 15. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Hypertrophic cardiomyopathy 11
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TGTACAGAGGAAAAGAAAGAGACACAAAAACTAGTGAAATCATACCTCCCCATGCATGGCTTTTAAACCAGTTCAACTGTGCTATAGGATACAATGGGGTGGTGGGGGCGGGGGGCATATGTACAATAATGTTTGCACCTTATCTAAATAAAATGCCACCAAGTTGATGTATTATTTAGCCTTTATTGCATAGAAGGCCTTCCATTTGAATATGCTACATACAGAACTCTAAACTCTGAGCTTTTTATTCACAGAAAATGTGCTCTCATACATCTTTGTGTCCCCTGCCCTTAATACTATGCCCGACCCAGAGTCAGGGATCAAAAGATATTTTTGGTATGAATAGGCAAAAAGACACACATAGGACCTTGAATGACAGTGGCAATGTATTACAATTTATTAAAGATGTCTGATGAGTCCAGAGTACTCCAAATATTGAACCCAAATTCTCAAAAGGCATGTGATAGAATGGGGTTACCCTTGATAAACTATAAAGTTAGAAAGATTATTTTAGAGACACCATCAGAGTAGGTGTCAGAAAATCTGAGTTCCTGTCTAGCACATTCCACAAATAAAGTTTATAACATTGCACCAGTTGCTTAATCTCTGTGTCTTGAATCCTCATCAATAAAATTCAATTAAGTCTATTCAAACACTTCTGTGAATGCTAACAGTTCACTGGCAATTAATTTGAAAACAAAAATCTGTAAGGCTTCTGCAATCTAGTTGAAATCTACCTTTCCCAGTGGATTTTCTAAAATTCATCAGCACCTACCAGCCTGCCCCATGTCTTGTATCCTGGCTTCTGCCACACTTCCTTCTGCTGAGATGTCCTCTCTGCTCTTCTCACCTCCCTAATTCCTGACCATTCTCTAAGACCCAGACCCACATACATCTCCTTAAAGCCTCCAGGCCACACGCACTGGGGGATTATGTGTAGGTGTGTGAACTCCTCGAGGATGGAACACATTCAATTCTTTTCAACGCTGCCCCTAGCAGCCTTCCCACCATACTTTGCAGAGAGCTCTGCACAGAGCAAAGCAAACACTGTGGCTCTCGCCTCCCCTTGCTCCCTCAGGACCTCGCAGCCTTCAGTTCACTCAACCCAAGATCTCAAGATTTCAAAGAAACGAAGAGATTGAAGGCTTCTGTCTCGCAAGTTAGTCACTGATCAGGCAGAAGTGTTTGGCTCCTGCTTCCTCACATTTGTTTTGCACACACACAATGGTCTTGATATGTTTAGAGGGTATTTGCAATGGGATGTGGCTGGCCCAACTGTCAGCTAACCTTCATGTTTCTTTCATAGCCCCCAGGAAGAAAATTGAAGAGTTCAAAGAATTGAAAAGTTAAGCCAATTCATTTAAAATAATCTTTGACTTTCTCATTATCAATATATGTGTATTTTCTGCAAGGTTACAAAAACAACTGGAACATATGTTAAAATAATCTTCAGTGTCATCTGCAGCAACTAATTCTAGAGAACTATCTTATTCAATTTCATTTCTTACTTATATGGAACTAAACCTTAATCTGCTTTTCAGGTATGAAATATATTCATGATTCTGTCTCAAAATATGAAATCAAAAGTTAGCATTATAACTCCCAGCTAACTGTCATATTAATTCATCTGGATGAACCTTGTGGTACTGAACTTTGACAATGCTCAGGGTGTCAAAGCAAACACCTGCCCCACCCCACGCCTACCCCAAAAACAAACGAGAGGCTTTTATAGGTTGCAAGTCCTGGTCTGGTTTATTTATAAAGCAATAAATATTAGAAGCACAAACAAATTGCACGTGTGTAAACAAACTGTACAATGATTGATGAAAGATGAGGGAAGGTGGTTTGGAAGACTCCAAGAAGCATAATACCGTCATCCTGACTGGAAGGTAGATGGAGAGAGAAGGCATCTTAGAAGCATTTGCGGTGGACAATGGATGGGCCTGCCTCATCGTACTCTTGCTTGCTAATCCACATTTGCTGGAAGGTGGACAGAGAGGCCAGGATGGAGCCCCCAATCCAGACAGAGTATTTACGCTCAGGGGGAGCAATAATCTGCAGAAAGAAAACAAAAACTTCCAGTGAACTCTGAAGTTCCAAGCAAGGGAGCAAATAACACATTGGGAGGATTCACAGAAAAAAACCATTAGATATTAATTCGCTATAATGTGGGATATGTCATACCACGAAATAATGTGGCCAATCAAGTTATATGAACTCACCTCTATTTCATCATTTATATTATTAAAGATATATTCTATTATTAAAATGGAATTTCTCCACTTACCTAGAGTGTAATTTGGCAACAAGCTAAATGTGTAGTGGAGCCTAGCCCAAAAGTTGGGAGCTTTAAAAATGTATTCAAAGATTTTGTTGCGTGTGTGTGTGTCTTTTTTTTGTCAAAGATTTATTTTTATTCACTGCTTAAAAGCATTTTGGAAGTTACCTATCTTGGGAAAAGTGCTAAGAAAATCAGAAAAAGTGGTAGAAAAGCTAACAGGTAAAGTTTGTAGGAGACAAGAAACTGAGTATGAGGGAAAAGGAATTTGGAACGTAGTTCTGCTTAGAATACCAAGACTTGCCTCGGATCTCCCACTCACAAAAGTTCTTTACCTTAATCTTCATGGTGCTAGGAGCCAGAGCAGTGATTTCCTTCTGCATACGATCAGCAATACCAGGGTACATAGTGGTGCCTCCAGATAAGACATTGTTGGCATACAGGTCCTTGCGGATATCAATGTCACACTTCATGATGCTATTGTAAGTTGTTTCATGGATGCCAGCAGATTCCATACCTGGGAACGAGTCACACACACACACACACACACACACACACACACACACACACACACATCACAGTGCATTCAGGTCAAGGTAGAGGGAAGAGAACAGAACTTCTTTGTGTGGGGGAGCTGTCACCATTTGTCTCTGAAACATATGTTCCCCTATAAGACACACTGCAGGGTGGAATGGGTGCCTCACAGTTAATCCACAATACAATGCCAAGAAAGGAGCAACTGTGCTTAGCACCTGTTTCAAGTAAACACCTCCTGAAACTCTCAGATGTATGAAGATGTATTGGAAAAGGAAAAGATACACGTTTAAACTAAAATGAATGTAATTTTTGTTTATGGACTTAAATCAGATCCTGACAAAGTTCCTTATGGAAAGCATTGCTTAGGAAGGATATTTGTTGACATATAAGTGCCCAGTTATTAATATGAGTAGGAATGTTATTGCATTTAATGATGAGGAACTTGGAAAGTCCAGCTACTTGGTAGTGAAACTTACGGGAATAAGTCAGCTCTTGTGAACTAGCCCTTTTCCTGCAGATACGTGCTATTCAGTTACTACTCTGTGTCATCCTTTATTTTGAGATGAACTCAGTGTGTCATCCTTTATTATATCACTAGAGCAGAACATAGACTTCCCCTTTAATGAGCCATCAGGACTTGAGGTTGAGCTGTGTGGGAATCCAAACTATGACTTCTTTTAACTCAAGGGCTTCTTGAGCCTTCTAGATTTTACTCTGGGAGACCCTAAGATTTCCAGGGAAAATCGTGCCTCTGCACCAGACCCTACAACTCACCAATGAAGGAGGGCTGGAAGAGTGTCTCAGGACAGCGGAAGCGCTCATTGCCAATAGTGATGACTTGGCCATCAGGCAGTTCATAGCTCTTCTCCAGGGAGGAGGAAGAGGCAGCTGTGGCCATCTCATTCTCAAAATCCAGGGCGACATAGCACAGCTTCTCTTTAATGTCACGGACAATTTCACGTTCAGCTACAGAAATAAAGAGTATCACAGTCATGCTCTGAAGCAAGAAGTCAATTATAGGGAGGTAGGCGGATTCAGTGAGAGAGGAGGAAAGCAGACCCACACTGTGGCAGATGAGACACACACACTCACCAGTGGTGACAAAGGAGTAGCCACGCTCAGTGAGGATCTTCATGAGGTAGTCAGTGAGGTCCCGACCAGCCAGATCCAGACGCATGATGGCATGGGGCAAAGCGTAGCCCTCATAGATGGGGACATTGTGAGTTACACCATCCCCAGAGTCCAGAACAATGCCTGCCCGGGGAAGTAGACAAGAACAAG
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TGTACAGAGGAAAAGAAAGAGACACAAAAACTAGTGAAATCATACCTCCCCATGCATGGCTTTTAAACCAGTTCAACTGTGCTATAGGATACAATGGGGTGGTGGGGGCGGGGGGCATATGTACAATAATGTTTGCACCTTATCTAAATAAAATGCCACCAAGTTGATGTATTATTTAGCCTTTATTGCATAGAAGGCCTTCCATTTGAATATGCTACATACAGAACTCTAAACTCTGAGCTTTTTATTCACAGAAAATGTGCTCTCATACATCTTTGTGTCCCCTGCCCTTAATACTATGCCCGACCCAGAGTCAGGGATCAAAAGATATTTTTGGTATGAATAGGCAAAAAGACACACATAGGACCTTGAATGACAGTGGCAATGTATTACAATTTATTAAAGATGTCTGATGAGTCCAGAGTACTCCAAATATTGAACCCAAATTCTCAAAAGGCATGTGATAGAATGGGGTTACCCTTGATAAACTATAAAGTTAGAAAGATTATTTTAGAGACACCATCAGAGTAGGTGTCAGAAAATCTGAGTTCCTGTCTAGCACATTCCACAAATAAAGTTTATAACATTGCACCAGTTGCTTAATCTCTGTGTCTTGAATCCTCATCAATAAAATTCAATTAAGTCTATTCAAACACTTCTGTGAATGCTAACAGTTCACTGGCAATTAATTTGAAAACAAAAATCTGTAAGGCTTCTGCAATCTAGTTGAAATCTACCTTTCCCAGTGGATTTTCTAAAATTCATCAGCACCTACCAGCCTGCCCCATGTCTTGTATCCTGGCTTCTGCCACACTTCCTTCTGCTGAGATGTCCTCTCTGCTCTTCTCACCTCCCTAATTCCTGACCATTCTCTAAGACCCAGACCCACATACATCTCCTTAAAGCCTCCAGGCCACACGCACTGGGGGATTATGTGTAGGTGTGTGAACTCCTCGAGGATGGAACACATTCAATTCTTTTCAACGCTGCCCCTAGCAGCCTTCCCACCATACTTTGCAGAGAGCTCTGCACAGAGCAAAGCAAACACTGTGGCTCTCGCCTCCCCTTGCTCCCTCAGGACCTCGCAGCCTTCAGTTCACTCAACCCAAGATCTCAAGATTTCAAAGAAACGAAGAGATTGAAGGCTTCTGTCTCGCAAGTTAGTCACTGATCAGGCAGAAGTGTTTGGCTCCTGCTTCCTCACATTTGTTTTGCACACACACAATGGTCTTGATATGTTTAGAGGGTATTTGCAATGGGATGTGGCTGGCCCAACTGTCAGCTAACCTTCATGTTTCTTTCATAGCCCCCAGGAAGAAAATTGAAGAGTTCAAAGAATTGAAAAGTTAAGCCAATTCATTTAAAATAATCTTTGACTTTCTCATTATCAATATATGTGTATTTTCTGCAAGGTTACAAAAACAACTGGAACATATGTTAAAATAATCTTCAGTGTCATCTGCAGCAACTAATTCTAGAGAACTATCTTATTCAATTTCATTTCTTACTTATATGGAACTAAACCTTAATCTGCTTTTCAGGTATGAAATATATTCATGATTCTGTCTCAAAATATGAAATCAAAAGTTAGCATTATAACTCCCAGCTAACTGTCATATTAATTCATCTGGATGAACCTTGTGGTACTGAACTTTGACAATGCTCAGGGTGTCAAAGCAAACACCTGCCCCACCCCACGCCTACCCCAAAAACAAACGAGAGGCTTTTATAGGTTGCAAGTCCTGGTCTGGTTTATTTATAAAGCAATAAATATTAGAAGCACAAACAAATTGCACGTGTGTAAACAAACTGTACAATGATTGATGAAAGATGAGGGAAGGTGGTTTGGAAGACTCCAAGAAGCATAATACCGTCATCCTGACTGGAAGGTAGATGGAGAGAGAAGGCATCTTAGAAGCATTTGCGGTGGACAATGGATGGGCCTGCCTCATCGTACTCTTGCTTGCTAATCCACATTTGCTGGAAGGTGGACAGAGAGGCCAGGATGGAGCCCCCAATCCAGACAGAGTATTTACGCTCAGGGGGAGGAATAATCTGCAGAAAGAAAACAAAAACTTCCAGTGAACTCTGAAGTTCCAAGCAAGGGAGCAAATAACACATTGGGAGGATTCACAGAAAAAAACCATTAGATATTAATTCGCTATAATGTGGGATATGTCATACCACGAAATAATGTGGCCAATCAAGTTATATGAACTCACCTCTATTTCATCATTTATATTATTAAAGATATATTCTATTATTAAAATGGAATTTCTCCACTTACCTAGAGTGTAATTTGGCAACAAGCTAAATGTGTAGTGGAGCCTAGCCCAAAAGTTGGGAGCTTTAAAAATGTATTCAAAGATTTTGTTGCGTGTGTGTGTGTCTTTTTTTTGTCAAAGATTTATTTTTATTCACTGCTTAAAAGCATTTTGGAAGTTACCTATCTTGGGAAAAGTGCTAAGAAAATCAGAAAAAGTGGTAGAAAAGCTAACAGGTAAAGTTTGTAGGAGACAAGAAACTGAGTATGAGGGAAAAGGAATTTGGAACGTAGTTCTGCTTAGAATACCAAGACTTGCCTCGGATCTCCCACTCACAAAAGTTCTTTACCTTAATCTTCATGGTGCTAGGAGCCAGAGCAGTGATTTCCTTCTGCATACGATCAGCAATACCAGGGTACATAGTGGTGCCTCCAGATAAGACATTGTTGGCATACAGGTCCTTGCGGATATCAATGTCACACTTCATGATGCTATTGTAAGTTGTTTCATGGATGCCAGCAGATTCCATACCTGGGAACGAGTCACACACACACACACACACACACACACACACACACACACACACACATCACAGTGCATTCAGGTCAAGGTAGAGGGAAGAGAACAGAACTTCTTTGTGTGGGGGAGCTGTCACCATTTGTCTCTGAAACATATGTTCCCCTATAAGACACACTGCAGGGTGGAATGGGTGCCTCACAGTTAATCCACAATACAATGCCAAGAAAGGAGCAACTGTGCTTAGCACCTGTTTCAAGTAAACACCTCCTGAAACTCTCAGATGTATGAAGATGTATTGGAAAAGGAAAAGATACACGTTTAAACTAAAATGAATGTAATTTTTGTTTATGGACTTAAATCAGATCCTGACAAAGTTCCTTATGGAAAGCATTGCTTAGGAAGGATATTTGTTGACATATAAGTGCCCAGTTATTAATATGAGTAGGAATGTTATTGCATTTAATGATGAGGAACTTGGAAAGTCCAGCTACTTGGTAGTGAAACTTACGGGAATAAGTCAGCTCTTGTGAACTAGCCCTTTTCCTGCAGATACGTGCTATTCAGTTACTACTCTGTGTCATCCTTTATTTTGAGATGAACTCAGTGTGTCATCCTTTATTATATCACTAGAGCAGAACATAGACTTCCCCTTTAATGAGCCATCAGGACTTGAGGTTGAGCTGTGTGGGAATCCAAACTATGACTTCTTTTAACTCAAGGGCTTCTTGAGCCTTCTAGATTTTACTCTGGGAGACCCTAAGATTTCCAGGGAAAATCGTGCCTCTGCACCAGACCCTACAACTCACCAATGAAGGAGGGCTGGAAGAGTGTCTCAGGACAGCGGAAGCGCTCATTGCCAATAGTGATGACTTGGCCATCAGGCAGTTCATAGCTCTTCTCCAGGGAGGAGGAAGAGGCAGCTGTGGCCATCTCATTCTCAAAATCCAGGGCGACATAGCACAGCTTCTCTTTAATGTCACGGACAATTTCACGTTCAGCTACAGAAATAAAGAGTATCACAGTCATGCTCTGAAGCAAGAAGTCAATTATAGGGAGGTAGGCGGATTCAGTGAGAGAGGAGGAAAGCAGACCCACACTGTGGCAGATGAGACACACACACTCACCAGTGGTGACAAAGGAGTAGCCACGCTCAGTGAGGATCTTCATGAGGTAGTCAGTGAGGTCCCGACCAGCCAGATCCAGACGCATGATGGCATGGGGCAAAGCGTAGCCCTCATAGATGGGGACATTGTGAGTTACACCATCCCCAGAGTCCAGAACAATGCCTGCCCGGGGAAGTAGACAAGAACAAG
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Task1_train_20508
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Here is a variant affecting GJD2-DT, ACTC1 (GJD2 divergent transcript| actin alpha cardiac muscle 1) on Chromosome 15. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Atrial septal defect 5
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GCTAACAGTTCACTGGCAATTAATTTGAAAACAAAAATCTGTAAGGCTTCTGCAATCTAGTTGAAATCTACCTTTCCCAGTGGATTTTCTAAAATTCATCAGCACCTACCAGCCTGCCCCATGTCTTGTATCCTGGCTTCTGCCACACTTCCTTCTGCTGAGATGTCCTCTCTGCTCTTCTCACCTCCCTAATTCCTGACCATTCTCTAAGACCCAGACCCACATACATCTCCTTAAAGCCTCCAGGCCACACGCACTGGGGGATTATGTGTAGGTGTGTGAACTCCTCGAGGATGGAACACATTCAATTCTTTTCAACGCTGCCCCTAGCAGCCTTCCCACCATACTTTGCAGAGAGCTCTGCACAGAGCAAAGCAAACACTGTGGCTCTCGCCTCCCCTTGCTCCCTCAGGACCTCGCAGCCTTCAGTTCACTCAACCCAAGATCTCAAGATTTCAAAGAAACGAAGAGATTGAAGGCTTCTGTCTCGCAAGTTAGTCACTGATCAGGCAGAAGTGTTTGGCTCCTGCTTCCTCACATTTGTTTTGCACACACACAATGGTCTTGATATGTTTAGAGGGTATTTGCAATGGGATGTGGCTGGCCCAACTGTCAGCTAACCTTCATGTTTCTTTCATAGCCCCCAGGAAGAAAATTGAAGAGTTCAAAGAATTGAAAAGTTAAGCCAATTCATTTAAAATAATCTTTGACTTTCTCATTATCAATATATGTGTATTTTCTGCAAGGTTACAAAAACAACTGGAACATATGTTAAAATAATCTTCAGTGTCATCTGCAGCAACTAATTCTAGAGAACTATCTTATTCAATTTCATTTCTTACTTATATGGAACTAAACCTTAATCTGCTTTTCAGGTATGAAATATATTCATGATTCTGTCTCAAAATATGAAATCAAAAGTTAGCATTATAACTCCCAGCTAACTGTCATATTAATTCATCTGGATGAACCTTGTGGTACTGAACTTTGACAATGCTCAGGGTGTCAAAGCAAACACCTGCCCCACCCCACGCCTACCCCAAAAACAAACGAGAGGCTTTTATAGGTTGCAAGTCCTGGTCTGGTTTATTTATAAAGCAATAAATATTAGAAGCACAAACAAATTGCACGTGTGTAAACAAACTGTACAATGATTGATGAAAGATGAGGGAAGGTGGTTTGGAAGACTCCAAGAAGCATAATACCGTCATCCTGACTGGAAGGTAGATGGAGAGAGAAGGCATCTTAGAAGCATTTGCGGTGGACAATGGATGGGCCTGCCTCATCGTACTCTTGCTTGCTAATCCACATTTGCTGGAAGGTGGACAGAGAGGCCAGGATGGAGCCCCCAATCCAGACAGAGTATTTACGCTCAGGGGGAGCAATAATCTGCAGAAAGAAAACAAAAACTTCCAGTGAACTCTGAAGTTCCAAGCAAGGGAGCAAATAACACATTGGGAGGATTCACAGAAAAAAACCATTAGATATTAATTCGCTATAATGTGGGATATGTCATACCACGAAATAATGTGGCCAATCAAGTTATATGAACTCACCTCTATTTCATCATTTATATTATTAAAGATATATTCTATTATTAAAATGGAATTTCTCCACTTACCTAGAGTGTAATTTGGCAACAAGCTAAATGTGTAGTGGAGCCTAGCCCAAAAGTTGGGAGCTTTAAAAATGTATTCAAAGATTTTGTTGCGTGTGTGTGTGTCTTTTTTTTGTCAAAGATTTATTTTTATTCACTGCTTAAAAGCATTTTGGAAGTTACCTATCTTGGGAAAAGTGCTAAGAAAATCAGAAAAAGTGGTAGAAAAGCTAACAGGTAAAGTTTGTAGGAGACAAGAAACTGAGTATGAGGGAAAAGGAATTTGGAACGTAGTTCTGCTTAGAATACCAAGACTTGCCTCGGATCTCCCACTCACAAAAGTTCTTTACCTTAATCTTCATGGTGCTAGGAGCCAGAGCAGTGATTTCCTTCTGCATACGATCAGCAATACCAGGGTACATAGTGGTGCCTCCAGATAAGACATTGTTGGCATACAGGTCCTTGCGGATATCAATGTCACACTTCATGATGCTATTGTAAGTTGTTTCATGGATGCCAGCAGATTCCATACCTGGGAACGAGTCACACACACACACACACACACACACACACACACACACACACACACATCACAGTGCATTCAGGTCAAGGTAGAGGGAAGAGAACAGAACTTCTTTGTGTGGGGGAGCTGTCACCATTTGTCTCTGAAACATATGTTCCCCTATAAGACACACTGCAGGGTGGAATGGGTGCCTCACAGTTAATCCACAATACAATGCCAAGAAAGGAGCAACTGTGCTTAGCACCTGTTTCAAGTAAACACCTCCTGAAACTCTCAGATGTATGAAGATGTATTGGAAAAGGAAAAGATACACGTTTAAACTAAAATGAATGTAATTTTTGTTTATGGACTTAAATCAGATCCTGACAAAGTTCCTTATGGAAAGCATTGCTTAGGAAGGATATTTGTTGACATATAAGTGCCCAGTTATTAATATGAGTAGGAATGTTATTGCATTTAATGATGAGGAACTTGGAAAGTCCAGCTACTTGGTAGTGAAACTTACGGGAATAAGTCAGCTCTTGTGAACTAGCCCTTTTCCTGCAGATACGTGCTATTCAGTTACTACTCTGTGTCATCCTTTATTTTGAGATGAACTCAGTGTGTCATCCTTTATTATATCACTAGAGCAGAACATAGACTTCCCCTTTAATGAGCCATCAGGACTTGAGGTTGAGCTGTGTGGGAATCCAAACTATGACTTCTTTTAACTCAAGGGCTTCTTGAGCCTTCTAGATTTTACTCTGGGAGACCCTAAGATTTCCAGGGAAAATCGTGCCTCTGCACCAGACCCTACAACTCACCAATGAAGGAGGGCTGGAAGAGTGTCTCAGGACAGCGGAAGCGCTCATTGCCAATAGTGATGACTTGGCCATCAGGCAGTTCATAGCTCTTCTCCAGGGAGGAGGAAGAGGCAGCTGTGGCCATCTCATTCTCAAAATCCAGGGCGACATAGCACAGCTTCTCTTTAATGTCACGGACAATTTCACGTTCAGCTACAGAAATAAAGAGTATCACAGTCATGCTCTGAAGCAAGAAGTCAATTATAGGGAGGTAGGCGGATTCAGTGAGAGAGGAGGAAAGCAGACCCACACTGTGGCAGATGAGACACACACACTCACCAGTGGTGACAAAGGAGTAGCCACGCTCAGTGAGGATCTTCATGAGGTAGTCAGTGAGGTCCCGACCAGCCAGATCCAGACGCATGATGGCATGGGGCAAAGCGTAGCCCTCATAGATGGGGACATTGTGAGTTACACCATCCCCAGAGTCCAGAACAATGCCTGCCCGGGGAAGTAGACAAGAACAAGGTAAATTCCTGAGGACAACACCACTGCTCTAGCCACGGCAAAGCCCGCTTCCAATCTTGGCTAAGAGATGCTAGCAATGGGCATTGATCCAGATAAAATTAGATTCCTTACACACAAAGAATAAAAATGCGCATCAGGAATACTAAATCTGAAGCAAACTGCAGCTCATCTTTTTAACTATTATAGTAGAAAAAATTCCCGAGGACACTTTCAAATGACCATCTTTCTTGTCAGCCACGAGCACATTATGTAAGCACCCAAGGGTGTTTTTCTTTGCTCCTATTGAACTTACACGTTTCTCTCTCTTTTGACTCAGACCCTGTATGGAATGTATTCTCCTTGGGGATGCTTGCCCAGGTGATGTGATGGTTTAAACACATAACAATGACTGCTGCACTCCAAGCTGCTACACTGCGCTGAGCTTTAAATGAGGGAAGGACCTATCTCCACAAGCTATCAGCTCCAACAATAATTGTGCTCCGAAACTAACCTCAGGGCACTACTGTTAACTCTTTCTCTTAGCACAGACCTTGCTAGGGAATGGGAGGAAAGGGATTATCCCTTTTTCAACTGGGGGATCTGATTCACAGCAAGGTCGGTGACTTGGGAATGTGATTCATCAGTAACTGTCCCCAGAGCCCAGCATACCTGTGGTACGGCCAGAAG
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GCTAACAGTTCACTGGCAATTAATTTGAAAACAAAAATCTGTAAGGCTTCTGCAATCTAGTTGAAATCTACCTTTCCCAGTGGATTTTCTAAAATTCATCAGCACCTACCAGCCTGCCCCATGTCTTGTATCCTGGCTTCTGCCACACTTCCTTCTGCTGAGATGTCCTCTCTGCTCTTCTCACCTCCCTAATTCCTGACCATTCTCTAAGACCCAGACCCACATACATCTCCTTAAAGCCTCCAGGCCACACGCACTGGGGGATTATGTGTAGGTGTGTGAACTCCTCGAGGATGGAACACATTCAATTCTTTTCAACGCTGCCCCTAGCAGCCTTCCCACCATACTTTGCAGAGAGCTCTGCACAGAGCAAAGCAAACACTGTGGCTCTCGCCTCCCCTTGCTCCCTCAGGACCTCGCAGCCTTCAGTTCACTCAACCCAAGATCTCAAGATTTCAAAGAAACGAAGAGATTGAAGGCTTCTGTCTCGCAAGTTAGTCACTGATCAGGCAGAAGTGTTTGGCTCCTGCTTCCTCACATTTGTTTTGCACACACACAATGGTCTTGATATGTTTAGAGGGTATTTGCAATGGGATGTGGCTGGCCCAACTGTCAGCTAACCTTCATGTTTCTTTCATAGCCCCCAGGAAGAAAATTGAAGAGTTCAAAGAATTGAAAAGTTAAGCCAATTCATTTAAAATAATCTTTGACTTTCTCATTATCAATATATGTGTATTTTCTGCAAGGTTACAAAAACAACTGGAACATATGTTAAAATAATCTTCAGTGTCATCTGCAGCAACTAATTCTAGAGAACTATCTTATTCAATTTCATTTCTTACTTATATGGAACTAAACCTTAATCTGCTTTTCAGGTATGAAATATATTCATGATTCTGTCTCAAAATATGAAATCAAAAGTTAGCATTATAACTCCCAGCTAACTGTCATATTAATTCATCTGGATGAACCTTGTGGTACTGAACTTTGACAATGCTCAGGGTGTCAAAGCAAACACCTGCCCCACCCCACGCCTACCCCAAAAACAAACGAGAGGCTTTTATAGGTTGCAAGTCCTGGTCTGGTTTATTTATAAAGCAATAAATATTAGAAGCACAAACAAATTGCACGTGTGTAAACAAACTGTACAATGATTGATGAAAGATGAGGGAAGGTGGTTTGGAAGACTCCAAGAAGCATAATACCGTCATCCTGACTGGAAGGTAGATGGAGAGAGAAGGCATCTTAGAAGCATTTGCGGTGGACAATGGATGGGCCTGCCTCATCGTACTCTTGCTTGCTAATCCACATTTGCTGGAAGGTGGACAGAGAGGCCAGGATGGAGCCCCCAATCCAGACAGAGTATTTACGCTCAGGGGGAGCAATAATCTGCAGAAAGAAAACAAAAACTTCCAGTGAACTCTGAAGTTCCAAGCAAGGGAGCAAATAACACATTGGGAGGATTCACAGAAAAAAACCATTAGATATTAATTCGCTATAATGTGGGATATGTCATACCACGAAATAATGTGGCCAATCAAGTTATATGAACTCACCTCTATTTCATCATTTATATTATTAAAGATATATTCTATTATTAAAATGGAATTTCTCCACTTACCTAGAGTGTAATTTGGCAACAAGCTAAATGTGTAGTGGAGCCTAGCCCAAAAGTTGGGAGCTTTAAAAATGTATTCAAAGATTTTGTTGCGTGTGTGTGTGTCTTTTTTTTGTCAAAGATTTATTTTTATTCACTGCTTAAAAGCATTTTGGAAGTTACCTATCTTGGGAAAAGTGCTAAGAAAATCAGAAAAAGTGGTAGAAAAGCTAACAGGTAAAGTTTGTAGGAGACAAGAAACTGAGTATGAGGGAAAAGGAATTTGGAACGTAGTTCTGCTTAGAATACCAAGACTTGCCTCGGATCTCCCACTCACAAAAGTTCTTTACCTTAATCTTCATGGTGCTAGGAGCCAGAGCAGTGATTTCCTTCTGCATACGATCAGCAATACCAGGGTACATAGTGGTGCCTCCAGATAAGACATTGTTGGAATACAGGTCCTTGCGGATATCAATGTCACACTTCATGATGCTATTGTAAGTTGTTTCATGGATGCCAGCAGATTCCATACCTGGGAACGAGTCACACACACACACACACACACACACACACACACACACACACACACATCACAGTGCATTCAGGTCAAGGTAGAGGGAAGAGAACAGAACTTCTTTGTGTGGGGGAGCTGTCACCATTTGTCTCTGAAACATATGTTCCCCTATAAGACACACTGCAGGGTGGAATGGGTGCCTCACAGTTAATCCACAATACAATGCCAAGAAAGGAGCAACTGTGCTTAGCACCTGTTTCAAGTAAACACCTCCTGAAACTCTCAGATGTATGAAGATGTATTGGAAAAGGAAAAGATACACGTTTAAACTAAAATGAATGTAATTTTTGTTTATGGACTTAAATCAGATCCTGACAAAGTTCCTTATGGAAAGCATTGCTTAGGAAGGATATTTGTTGACATATAAGTGCCCAGTTATTAATATGAGTAGGAATGTTATTGCATTTAATGATGAGGAACTTGGAAAGTCCAGCTACTTGGTAGTGAAACTTACGGGAATAAGTCAGCTCTTGTGAACTAGCCCTTTTCCTGCAGATACGTGCTATTCAGTTACTACTCTGTGTCATCCTTTATTTTGAGATGAACTCAGTGTGTCATCCTTTATTATATCACTAGAGCAGAACATAGACTTCCCCTTTAATGAGCCATCAGGACTTGAGGTTGAGCTGTGTGGGAATCCAAACTATGACTTCTTTTAACTCAAGGGCTTCTTGAGCCTTCTAGATTTTACTCTGGGAGACCCTAAGATTTCCAGGGAAAATCGTGCCTCTGCACCAGACCCTACAACTCACCAATGAAGGAGGGCTGGAAGAGTGTCTCAGGACAGCGGAAGCGCTCATTGCCAATAGTGATGACTTGGCCATCAGGCAGTTCATAGCTCTTCTCCAGGGAGGAGGAAGAGGCAGCTGTGGCCATCTCATTCTCAAAATCCAGGGCGACATAGCACAGCTTCTCTTTAATGTCACGGACAATTTCACGTTCAGCTACAGAAATAAAGAGTATCACAGTCATGCTCTGAAGCAAGAAGTCAATTATAGGGAGGTAGGCGGATTCAGTGAGAGAGGAGGAAAGCAGACCCACACTGTGGCAGATGAGACACACACACTCACCAGTGGTGACAAAGGAGTAGCCACGCTCAGTGAGGATCTTCATGAGGTAGTCAGTGAGGTCCCGACCAGCCAGATCCAGACGCATGATGGCATGGGGCAAAGCGTAGCCCTCATAGATGGGGACATTGTGAGTTACACCATCCCCAGAGTCCAGAACAATGCCTGCCCGGGGAAGTAGACAAGAACAAGGTAAATTCCTGAGGACAACACCACTGCTCTAGCCACGGCAAAGCCCGCTTCCAATCTTGGCTAAGAGATGCTAGCAATGGGCATTGATCCAGATAAAATTAGATTCCTTACACACAAAGAATAAAAATGCGCATCAGGAATACTAAATCTGAAGCAAACTGCAGCTCATCTTTTTAACTATTATAGTAGAAAAAATTCCCGAGGACACTTTCAAATGACCATCTTTCTTGTCAGCCACGAGCACATTATGTAAGCACCCAAGGGTGTTTTTCTTTGCTCCTATTGAACTTACACGTTTCTCTCTCTTTTGACTCAGACCCTGTATGGAATGTATTCTCCTTGGGGATGCTTGCCCAGGTGATGTGATGGTTTAAACACATAACAATGACTGCTGCACTCCAAGCTGCTACACTGCGCTGAGCTTTAAATGAGGGAAGGACCTATCTCCACAAGCTATCAGCTCCAACAATAATTGTGCTCCGAAACTAACCTCAGGGCACTACTGTTAACTCTTTCTCTTAGCACAGACCTTGCTAGGGAATGGGAGGAAAGGGATTATCCCTTTTTCAACTGGGGGATCTGATTCACAGCAAGGTCGGTGACTTGGGAATGTGATTCATCAGTAACTGTCCCCAGAGCCCAGCATACCTGTGGTACGGCCAGAAG
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Task1_train_20509
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Assess the clinical impact of this variant on gene GJD2-DT, ACTC1 (GJD2 divergent transcript| actin alpha cardiac muscle 1), found on Chromosome 15. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Dilated cardiomyopathy 1R
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GCTAACAGTTCACTGGCAATTAATTTGAAAACAAAAATCTGTAAGGCTTCTGCAATCTAGTTGAAATCTACCTTTCCCAGTGGATTTTCTAAAATTCATCAGCACCTACCAGCCTGCCCCATGTCTTGTATCCTGGCTTCTGCCACACTTCCTTCTGCTGAGATGTCCTCTCTGCTCTTCTCACCTCCCTAATTCCTGACCATTCTCTAAGACCCAGACCCACATACATCTCCTTAAAGCCTCCAGGCCACACGCACTGGGGGATTATGTGTAGGTGTGTGAACTCCTCGAGGATGGAACACATTCAATTCTTTTCAACGCTGCCCCTAGCAGCCTTCCCACCATACTTTGCAGAGAGCTCTGCACAGAGCAAAGCAAACACTGTGGCTCTCGCCTCCCCTTGCTCCCTCAGGACCTCGCAGCCTTCAGTTCACTCAACCCAAGATCTCAAGATTTCAAAGAAACGAAGAGATTGAAGGCTTCTGTCTCGCAAGTTAGTCACTGATCAGGCAGAAGTGTTTGGCTCCTGCTTCCTCACATTTGTTTTGCACACACACAATGGTCTTGATATGTTTAGAGGGTATTTGCAATGGGATGTGGCTGGCCCAACTGTCAGCTAACCTTCATGTTTCTTTCATAGCCCCCAGGAAGAAAATTGAAGAGTTCAAAGAATTGAAAAGTTAAGCCAATTCATTTAAAATAATCTTTGACTTTCTCATTATCAATATATGTGTATTTTCTGCAAGGTTACAAAAACAACTGGAACATATGTTAAAATAATCTTCAGTGTCATCTGCAGCAACTAATTCTAGAGAACTATCTTATTCAATTTCATTTCTTACTTATATGGAACTAAACCTTAATCTGCTTTTCAGGTATGAAATATATTCATGATTCTGTCTCAAAATATGAAATCAAAAGTTAGCATTATAACTCCCAGCTAACTGTCATATTAATTCATCTGGATGAACCTTGTGGTACTGAACTTTGACAATGCTCAGGGTGTCAAAGCAAACACCTGCCCCACCCCACGCCTACCCCAAAAACAAACGAGAGGCTTTTATAGGTTGCAAGTCCTGGTCTGGTTTATTTATAAAGCAATAAATATTAGAAGCACAAACAAATTGCACGTGTGTAAACAAACTGTACAATGATTGATGAAAGATGAGGGAAGGTGGTTTGGAAGACTCCAAGAAGCATAATACCGTCATCCTGACTGGAAGGTAGATGGAGAGAGAAGGCATCTTAGAAGCATTTGCGGTGGACAATGGATGGGCCTGCCTCATCGTACTCTTGCTTGCTAATCCACATTTGCTGGAAGGTGGACAGAGAGGCCAGGATGGAGCCCCCAATCCAGACAGAGTATTTACGCTCAGGGGGAGCAATAATCTGCAGAAAGAAAACAAAAACTTCCAGTGAACTCTGAAGTTCCAAGCAAGGGAGCAAATAACACATTGGGAGGATTCACAGAAAAAAACCATTAGATATTAATTCGCTATAATGTGGGATATGTCATACCACGAAATAATGTGGCCAATCAAGTTATATGAACTCACCTCTATTTCATCATTTATATTATTAAAGATATATTCTATTATTAAAATGGAATTTCTCCACTTACCTAGAGTGTAATTTGGCAACAAGCTAAATGTGTAGTGGAGCCTAGCCCAAAAGTTGGGAGCTTTAAAAATGTATTCAAAGATTTTGTTGCGTGTGTGTGTGTCTTTTTTTTGTCAAAGATTTATTTTTATTCACTGCTTAAAAGCATTTTGGAAGTTACCTATCTTGGGAAAAGTGCTAAGAAAATCAGAAAAAGTGGTAGAAAAGCTAACAGGTAAAGTTTGTAGGAGACAAGAAACTGAGTATGAGGGAAAAGGAATTTGGAACGTAGTTCTGCTTAGAATACCAAGACTTGCCTCGGATCTCCCACTCACAAAAGTTCTTTACCTTAATCTTCATGGTGCTAGGAGCCAGAGCAGTGATTTCCTTCTGCATACGATCAGCAATACCAGGGTACATAGTGGTGCCTCCAGATAAGACATTGTTGGCATACAGGTCCTTGCGGATATCAATGTCACACTTCATGATGCTATTGTAAGTTGTTTCATGGATGCCAGCAGATTCCATACCTGGGAACGAGTCACACACACACACACACACACACACACACACACACACACACACACATCACAGTGCATTCAGGTCAAGGTAGAGGGAAGAGAACAGAACTTCTTTGTGTGGGGGAGCTGTCACCATTTGTCTCTGAAACATATGTTCCCCTATAAGACACACTGCAGGGTGGAATGGGTGCCTCACAGTTAATCCACAATACAATGCCAAGAAAGGAGCAACTGTGCTTAGCACCTGTTTCAAGTAAACACCTCCTGAAACTCTCAGATGTATGAAGATGTATTGGAAAAGGAAAAGATACACGTTTAAACTAAAATGAATGTAATTTTTGTTTATGGACTTAAATCAGATCCTGACAAAGTTCCTTATGGAAAGCATTGCTTAGGAAGGATATTTGTTGACATATAAGTGCCCAGTTATTAATATGAGTAGGAATGTTATTGCATTTAATGATGAGGAACTTGGAAAGTCCAGCTACTTGGTAGTGAAACTTACGGGAATAAGTCAGCTCTTGTGAACTAGCCCTTTTCCTGCAGATACGTGCTATTCAGTTACTACTCTGTGTCATCCTTTATTTTGAGATGAACTCAGTGTGTCATCCTTTATTATATCACTAGAGCAGAACATAGACTTCCCCTTTAATGAGCCATCAGGACTTGAGGTTGAGCTGTGTGGGAATCCAAACTATGACTTCTTTTAACTCAAGGGCTTCTTGAGCCTTCTAGATTTTACTCTGGGAGACCCTAAGATTTCCAGGGAAAATCGTGCCTCTGCACCAGACCCTACAACTCACCAATGAAGGAGGGCTGGAAGAGTGTCTCAGGACAGCGGAAGCGCTCATTGCCAATAGTGATGACTTGGCCATCAGGCAGTTCATAGCTCTTCTCCAGGGAGGAGGAAGAGGCAGCTGTGGCCATCTCATTCTCAAAATCCAGGGCGACATAGCACAGCTTCTCTTTAATGTCACGGACAATTTCACGTTCAGCTACAGAAATAAAGAGTATCACAGTCATGCTCTGAAGCAAGAAGTCAATTATAGGGAGGTAGGCGGATTCAGTGAGAGAGGAGGAAAGCAGACCCACACTGTGGCAGATGAGACACACACACTCACCAGTGGTGACAAAGGAGTAGCCACGCTCAGTGAGGATCTTCATGAGGTAGTCAGTGAGGTCCCGACCAGCCAGATCCAGACGCATGATGGCATGGGGCAAAGCGTAGCCCTCATAGATGGGGACATTGTGAGTTACACCATCCCCAGAGTCCAGAACAATGCCTGCCCGGGGAAGTAGACAAGAACAAGGTAAATTCCTGAGGACAACACCACTGCTCTAGCCACGGCAAAGCCCGCTTCCAATCTTGGCTAAGAGATGCTAGCAATGGGCATTGATCCAGATAAAATTAGATTCCTTACACACAAAGAATAAAAATGCGCATCAGGAATACTAAATCTGAAGCAAACTGCAGCTCATCTTTTTAACTATTATAGTAGAAAAAATTCCCGAGGACACTTTCAAATGACCATCTTTCTTGTCAGCCACGAGCACATTATGTAAGCACCCAAGGGTGTTTTTCTTTGCTCCTATTGAACTTACACGTTTCTCTCTCTTTTGACTCAGACCCTGTATGGAATGTATTCTCCTTGGGGATGCTTGCCCAGGTGATGTGATGGTTTAAACACATAACAATGACTGCTGCACTCCAAGCTGCTACACTGCGCTGAGCTTTAAATGAGGGAAGGACCTATCTCCACAAGCTATCAGCTCCAACAATAATTGTGCTCCGAAACTAACCTCAGGGCACTACTGTTAACTCTTTCTCTTAGCACAGACCTTGCTAGGGAATGGGAGGAAAGGGATTATCCCTTTTTCAACTGGGGGATCTGATTCACAGCAAGGTCGGTGACTTGGGAATGTGATTCATCAGTAACTGTCCCCAGAGCCCAGCATACCTGTGGTACGGCCAGAAG
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GCTAACAGTTCACTGGCAATTAATTTGAAAACAAAAATCTGTAAGGCTTCTGCAATCTAGTTGAAATCTACCTTTCCCAGTGGATTTTCTAAAATTCATCAGCACCTACCAGCCTGCCCCATGTCTTGTATCCTGGCTTCTGCCACACTTCCTTCTGCTGAGATGTCCTCTCTGCTCTTCTCACCTCCCTAATTCCTGACCATTCTCTAAGACCCAGACCCACATACATCTCCTTAAAGCCTCCAGGCCACACGCACTGGGGGATTATGTGTAGGTGTGTGAACTCCTCGAGGATGGAACACATTCAATTCTTTTCAACGCTGCCCCTAGCAGCCTTCCCACCATACTTTGCAGAGAGCTCTGCACAGAGCAAAGCAAACACTGTGGCTCTCGCCTCCCCTTGCTCCCTCAGGACCTCGCAGCCTTCAGTTCACTCAACCCAAGATCTCAAGATTTCAAAGAAACGAAGAGATTGAAGGCTTCTGTCTCGCAAGTTAGTCACTGATCAGGCAGAAGTGTTTGGCTCCTGCTTCCTCACATTTGTTTTGCACACACACAATGGTCTTGATATGTTTAGAGGGTATTTGCAATGGGATGTGGCTGGCCCAACTGTCAGCTAACCTTCATGTTTCTTTCATAGCCCCCAGGAAGAAAATTGAAGAGTTCAAAGAATTGAAAAGTTAAGCCAATTCATTTAAAATAATCTTTGACTTTCTCATTATCAATATATGTGTATTTTCTGCAAGGTTACAAAAACAACTGGAACATATGTTAAAATAATCTTCAGTGTCATCTGCAGCAACTAATTCTAGAGAACTATCTTATTCAATTTCATTTCTTACTTATATGGAACTAAACCTTAATCTGCTTTTCAGGTATGAAATATATTCATGATTCTGTCTCAAAATATGAAATCAAAAGTTAGCATTATAACTCCCAGCTAACTGTCATATTAATTCATCTGGATGAACCTTGTGGTACTGAACTTTGACAATGCTCAGGGTGTCAAAGCAAACACCTGCCCCACCCCACGCCTACCCCAAAAACAAACGAGAGGCTTTTATAGGTTGCAAGTCCTGGTCTGGTTTATTTATAAAGCAATAAATATTAGAAGCACAAACAAATTGCACGTGTGTAAACAAACTGTACAATGATTGATGAAAGATGAGGGAAGGTGGTTTGGAAGACTCCAAGAAGCATAATACCGTCATCCTGACTGGAAGGTAGATGGAGAGAGAAGGCATCTTAGAAGCATTTGCGGTGGACAATGGATGGGCCTGCCTCATCGTACTCTTGCTTGCTAATCCACATTTGCTGGAAGGTGGACAGAGAGGCCAGGATGGAGCCCCCAATCCAGACAGAGTATTTACGCTCAGGGGGAGCAATAATCTGCAGAAAGAAAACAAAAACTTCCAGTGAACTCTGAAGTTCCAAGCAAGGGAGCAAATAACACATTGGGAGGATTCACAGAAAAAAACCATTAGATATTAATTCGCTATAATGTGGGATATGTCATACCACGAAATAATGTGGCCAATCAAGTTATATGAACTCACCTCTATTTCATCATTTATATTATTAAAGATATATTCTATTATTAAAATGGAATTTCTCCACTTACCTAGAGTGTAATTTGGCAACAAGCTAAATGTGTAGTGGAGCCTAGCCCAAAAGTTGGGAGCTTTAAAAATGTATTCAAAGATTTTGTTGCGTGTGTGTGTGTCTTTTTTTTGTCAAAGATTTATTTTTATTCACTGCTTAAAAGCATTTTGGAAGTTACCTATCTTGGGAAAAGTGCTAAGAAAATCAGAAAAAGTGGTAGAAAAGCTAACAGGTAAAGTTTGTAGGAGACAAGAAACTGAGTATGAGGGAAAAGGAATTTGGAACGTAGTTCTGCTTAGAATACCAAGACTTGCCTCGGATCTCCCACTCACAAAAGTTCTTTACCTTAATCTTCATGGTGCTAGGAGCCAGAGCAGTGATTTCCTTCTGCATACGATCAGCAATACCAGGGTACATAGTGGTGCCTCCAGATAAGACATTGTTGGAATACAGGTCCTTGCGGATATCAATGTCACACTTCATGATGCTATTGTAAGTTGTTTCATGGATGCCAGCAGATTCCATACCTGGGAACGAGTCACACACACACACACACACACACACACACACACACACACACACACATCACAGTGCATTCAGGTCAAGGTAGAGGGAAGAGAACAGAACTTCTTTGTGTGGGGGAGCTGTCACCATTTGTCTCTGAAACATATGTTCCCCTATAAGACACACTGCAGGGTGGAATGGGTGCCTCACAGTTAATCCACAATACAATGCCAAGAAAGGAGCAACTGTGCTTAGCACCTGTTTCAAGTAAACACCTCCTGAAACTCTCAGATGTATGAAGATGTATTGGAAAAGGAAAAGATACACGTTTAAACTAAAATGAATGTAATTTTTGTTTATGGACTTAAATCAGATCCTGACAAAGTTCCTTATGGAAAGCATTGCTTAGGAAGGATATTTGTTGACATATAAGTGCCCAGTTATTAATATGAGTAGGAATGTTATTGCATTTAATGATGAGGAACTTGGAAAGTCCAGCTACTTGGTAGTGAAACTTACGGGAATAAGTCAGCTCTTGTGAACTAGCCCTTTTCCTGCAGATACGTGCTATTCAGTTACTACTCTGTGTCATCCTTTATTTTGAGATGAACTCAGTGTGTCATCCTTTATTATATCACTAGAGCAGAACATAGACTTCCCCTTTAATGAGCCATCAGGACTTGAGGTTGAGCTGTGTGGGAATCCAAACTATGACTTCTTTTAACTCAAGGGCTTCTTGAGCCTTCTAGATTTTACTCTGGGAGACCCTAAGATTTCCAGGGAAAATCGTGCCTCTGCACCAGACCCTACAACTCACCAATGAAGGAGGGCTGGAAGAGTGTCTCAGGACAGCGGAAGCGCTCATTGCCAATAGTGATGACTTGGCCATCAGGCAGTTCATAGCTCTTCTCCAGGGAGGAGGAAGAGGCAGCTGTGGCCATCTCATTCTCAAAATCCAGGGCGACATAGCACAGCTTCTCTTTAATGTCACGGACAATTTCACGTTCAGCTACAGAAATAAAGAGTATCACAGTCATGCTCTGAAGCAAGAAGTCAATTATAGGGAGGTAGGCGGATTCAGTGAGAGAGGAGGAAAGCAGACCCACACTGTGGCAGATGAGACACACACACTCACCAGTGGTGACAAAGGAGTAGCCACGCTCAGTGAGGATCTTCATGAGGTAGTCAGTGAGGTCCCGACCAGCCAGATCCAGACGCATGATGGCATGGGGCAAAGCGTAGCCCTCATAGATGGGGACATTGTGAGTTACACCATCCCCAGAGTCCAGAACAATGCCTGCCCGGGGAAGTAGACAAGAACAAGGTAAATTCCTGAGGACAACACCACTGCTCTAGCCACGGCAAAGCCCGCTTCCAATCTTGGCTAAGAGATGCTAGCAATGGGCATTGATCCAGATAAAATTAGATTCCTTACACACAAAGAATAAAAATGCGCATCAGGAATACTAAATCTGAAGCAAACTGCAGCTCATCTTTTTAACTATTATAGTAGAAAAAATTCCCGAGGACACTTTCAAATGACCATCTTTCTTGTCAGCCACGAGCACATTATGTAAGCACCCAAGGGTGTTTTTCTTTGCTCCTATTGAACTTACACGTTTCTCTCTCTTTTGACTCAGACCCTGTATGGAATGTATTCTCCTTGGGGATGCTTGCCCAGGTGATGTGATGGTTTAAACACATAACAATGACTGCTGCACTCCAAGCTGCTACACTGCGCTGAGCTTTAAATGAGGGAAGGACCTATCTCCACAAGCTATCAGCTCCAACAATAATTGTGCTCCGAAACTAACCTCAGGGCACTACTGTTAACTCTTTCTCTTAGCACAGACCTTGCTAGGGAATGGGAGGAAAGGGATTATCCCTTTTTCAACTGGGGGATCTGATTCACAGCAAGGTCGGTGACTTGGGAATGTGATTCATCAGTAACTGTCCCCAGAGCCCAGCATACCTGTGGTACGGCCAGAAG
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Task1_train_20510
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A mutation in GJD2-DT, ACTC1 (GJD2 divergent transcript| actin alpha cardiac muscle 1), located on Chromosome 15, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Hypertrophic cardiomyopathy 11
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GCTAACAGTTCACTGGCAATTAATTTGAAAACAAAAATCTGTAAGGCTTCTGCAATCTAGTTGAAATCTACCTTTCCCAGTGGATTTTCTAAAATTCATCAGCACCTACCAGCCTGCCCCATGTCTTGTATCCTGGCTTCTGCCACACTTCCTTCTGCTGAGATGTCCTCTCTGCTCTTCTCACCTCCCTAATTCCTGACCATTCTCTAAGACCCAGACCCACATACATCTCCTTAAAGCCTCCAGGCCACACGCACTGGGGGATTATGTGTAGGTGTGTGAACTCCTCGAGGATGGAACACATTCAATTCTTTTCAACGCTGCCCCTAGCAGCCTTCCCACCATACTTTGCAGAGAGCTCTGCACAGAGCAAAGCAAACACTGTGGCTCTCGCCTCCCCTTGCTCCCTCAGGACCTCGCAGCCTTCAGTTCACTCAACCCAAGATCTCAAGATTTCAAAGAAACGAAGAGATTGAAGGCTTCTGTCTCGCAAGTTAGTCACTGATCAGGCAGAAGTGTTTGGCTCCTGCTTCCTCACATTTGTTTTGCACACACACAATGGTCTTGATATGTTTAGAGGGTATTTGCAATGGGATGTGGCTGGCCCAACTGTCAGCTAACCTTCATGTTTCTTTCATAGCCCCCAGGAAGAAAATTGAAGAGTTCAAAGAATTGAAAAGTTAAGCCAATTCATTTAAAATAATCTTTGACTTTCTCATTATCAATATATGTGTATTTTCTGCAAGGTTACAAAAACAACTGGAACATATGTTAAAATAATCTTCAGTGTCATCTGCAGCAACTAATTCTAGAGAACTATCTTATTCAATTTCATTTCTTACTTATATGGAACTAAACCTTAATCTGCTTTTCAGGTATGAAATATATTCATGATTCTGTCTCAAAATATGAAATCAAAAGTTAGCATTATAACTCCCAGCTAACTGTCATATTAATTCATCTGGATGAACCTTGTGGTACTGAACTTTGACAATGCTCAGGGTGTCAAAGCAAACACCTGCCCCACCCCACGCCTACCCCAAAAACAAACGAGAGGCTTTTATAGGTTGCAAGTCCTGGTCTGGTTTATTTATAAAGCAATAAATATTAGAAGCACAAACAAATTGCACGTGTGTAAACAAACTGTACAATGATTGATGAAAGATGAGGGAAGGTGGTTTGGAAGACTCCAAGAAGCATAATACCGTCATCCTGACTGGAAGGTAGATGGAGAGAGAAGGCATCTTAGAAGCATTTGCGGTGGACAATGGATGGGCCTGCCTCATCGTACTCTTGCTTGCTAATCCACATTTGCTGGAAGGTGGACAGAGAGGCCAGGATGGAGCCCCCAATCCAGACAGAGTATTTACGCTCAGGGGGAGCAATAATCTGCAGAAAGAAAACAAAAACTTCCAGTGAACTCTGAAGTTCCAAGCAAGGGAGCAAATAACACATTGGGAGGATTCACAGAAAAAAACCATTAGATATTAATTCGCTATAATGTGGGATATGTCATACCACGAAATAATGTGGCCAATCAAGTTATATGAACTCACCTCTATTTCATCATTTATATTATTAAAGATATATTCTATTATTAAAATGGAATTTCTCCACTTACCTAGAGTGTAATTTGGCAACAAGCTAAATGTGTAGTGGAGCCTAGCCCAAAAGTTGGGAGCTTTAAAAATGTATTCAAAGATTTTGTTGCGTGTGTGTGTGTCTTTTTTTTGTCAAAGATTTATTTTTATTCACTGCTTAAAAGCATTTTGGAAGTTACCTATCTTGGGAAAAGTGCTAAGAAAATCAGAAAAAGTGGTAGAAAAGCTAACAGGTAAAGTTTGTAGGAGACAAGAAACTGAGTATGAGGGAAAAGGAATTTGGAACGTAGTTCTGCTTAGAATACCAAGACTTGCCTCGGATCTCCCACTCACAAAAGTTCTTTACCTTAATCTTCATGGTGCTAGGAGCCAGAGCAGTGATTTCCTTCTGCATACGATCAGCAATACCAGGGTACATAGTGGTGCCTCCAGATAAGACATTGTTGGCATACAGGTCCTTGCGGATATCAATGTCACACTTCATGATGCTATTGTAAGTTGTTTCATGGATGCCAGCAGATTCCATACCTGGGAACGAGTCACACACACACACACACACACACACACACACACACACACACACACATCACAGTGCATTCAGGTCAAGGTAGAGGGAAGAGAACAGAACTTCTTTGTGTGGGGGAGCTGTCACCATTTGTCTCTGAAACATATGTTCCCCTATAAGACACACTGCAGGGTGGAATGGGTGCCTCACAGTTAATCCACAATACAATGCCAAGAAAGGAGCAACTGTGCTTAGCACCTGTTTCAAGTAAACACCTCCTGAAACTCTCAGATGTATGAAGATGTATTGGAAAAGGAAAAGATACACGTTTAAACTAAAATGAATGTAATTTTTGTTTATGGACTTAAATCAGATCCTGACAAAGTTCCTTATGGAAAGCATTGCTTAGGAAGGATATTTGTTGACATATAAGTGCCCAGTTATTAATATGAGTAGGAATGTTATTGCATTTAATGATGAGGAACTTGGAAAGTCCAGCTACTTGGTAGTGAAACTTACGGGAATAAGTCAGCTCTTGTGAACTAGCCCTTTTCCTGCAGATACGTGCTATTCAGTTACTACTCTGTGTCATCCTTTATTTTGAGATGAACTCAGTGTGTCATCCTTTATTATATCACTAGAGCAGAACATAGACTTCCCCTTTAATGAGCCATCAGGACTTGAGGTTGAGCTGTGTGGGAATCCAAACTATGACTTCTTTTAACTCAAGGGCTTCTTGAGCCTTCTAGATTTTACTCTGGGAGACCCTAAGATTTCCAGGGAAAATCGTGCCTCTGCACCAGACCCTACAACTCACCAATGAAGGAGGGCTGGAAGAGTGTCTCAGGACAGCGGAAGCGCTCATTGCCAATAGTGATGACTTGGCCATCAGGCAGTTCATAGCTCTTCTCCAGGGAGGAGGAAGAGGCAGCTGTGGCCATCTCATTCTCAAAATCCAGGGCGACATAGCACAGCTTCTCTTTAATGTCACGGACAATTTCACGTTCAGCTACAGAAATAAAGAGTATCACAGTCATGCTCTGAAGCAAGAAGTCAATTATAGGGAGGTAGGCGGATTCAGTGAGAGAGGAGGAAAGCAGACCCACACTGTGGCAGATGAGACACACACACTCACCAGTGGTGACAAAGGAGTAGCCACGCTCAGTGAGGATCTTCATGAGGTAGTCAGTGAGGTCCCGACCAGCCAGATCCAGACGCATGATGGCATGGGGCAAAGCGTAGCCCTCATAGATGGGGACATTGTGAGTTACACCATCCCCAGAGTCCAGAACAATGCCTGCCCGGGGAAGTAGACAAGAACAAGGTAAATTCCTGAGGACAACACCACTGCTCTAGCCACGGCAAAGCCCGCTTCCAATCTTGGCTAAGAGATGCTAGCAATGGGCATTGATCCAGATAAAATTAGATTCCTTACACACAAAGAATAAAAATGCGCATCAGGAATACTAAATCTGAAGCAAACTGCAGCTCATCTTTTTAACTATTATAGTAGAAAAAATTCCCGAGGACACTTTCAAATGACCATCTTTCTTGTCAGCCACGAGCACATTATGTAAGCACCCAAGGGTGTTTTTCTTTGCTCCTATTGAACTTACACGTTTCTCTCTCTTTTGACTCAGACCCTGTATGGAATGTATTCTCCTTGGGGATGCTTGCCCAGGTGATGTGATGGTTTAAACACATAACAATGACTGCTGCACTCCAAGCTGCTACACTGCGCTGAGCTTTAAATGAGGGAAGGACCTATCTCCACAAGCTATCAGCTCCAACAATAATTGTGCTCCGAAACTAACCTCAGGGCACTACTGTTAACTCTTTCTCTTAGCACAGACCTTGCTAGGGAATGGGAGGAAAGGGATTATCCCTTTTTCAACTGGGGGATCTGATTCACAGCAAGGTCGGTGACTTGGGAATGTGATTCATCAGTAACTGTCCCCAGAGCCCAGCATACCTGTGGTACGGCCAGAAG
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GCTAACAGTTCACTGGCAATTAATTTGAAAACAAAAATCTGTAAGGCTTCTGCAATCTAGTTGAAATCTACCTTTCCCAGTGGATTTTCTAAAATTCATCAGCACCTACCAGCCTGCCCCATGTCTTGTATCCTGGCTTCTGCCACACTTCCTTCTGCTGAGATGTCCTCTCTGCTCTTCTCACCTCCCTAATTCCTGACCATTCTCTAAGACCCAGACCCACATACATCTCCTTAAAGCCTCCAGGCCACACGCACTGGGGGATTATGTGTAGGTGTGTGAACTCCTCGAGGATGGAACACATTCAATTCTTTTCAACGCTGCCCCTAGCAGCCTTCCCACCATACTTTGCAGAGAGCTCTGCACAGAGCAAAGCAAACACTGTGGCTCTCGCCTCCCCTTGCTCCCTCAGGACCTCGCAGCCTTCAGTTCACTCAACCCAAGATCTCAAGATTTCAAAGAAACGAAGAGATTGAAGGCTTCTGTCTCGCAAGTTAGTCACTGATCAGGCAGAAGTGTTTGGCTCCTGCTTCCTCACATTTGTTTTGCACACACACAATGGTCTTGATATGTTTAGAGGGTATTTGCAATGGGATGTGGCTGGCCCAACTGTCAGCTAACCTTCATGTTTCTTTCATAGCCCCCAGGAAGAAAATTGAAGAGTTCAAAGAATTGAAAAGTTAAGCCAATTCATTTAAAATAATCTTTGACTTTCTCATTATCAATATATGTGTATTTTCTGCAAGGTTACAAAAACAACTGGAACATATGTTAAAATAATCTTCAGTGTCATCTGCAGCAACTAATTCTAGAGAACTATCTTATTCAATTTCATTTCTTACTTATATGGAACTAAACCTTAATCTGCTTTTCAGGTATGAAATATATTCATGATTCTGTCTCAAAATATGAAATCAAAAGTTAGCATTATAACTCCCAGCTAACTGTCATATTAATTCATCTGGATGAACCTTGTGGTACTGAACTTTGACAATGCTCAGGGTGTCAAAGCAAACACCTGCCCCACCCCACGCCTACCCCAAAAACAAACGAGAGGCTTTTATAGGTTGCAAGTCCTGGTCTGGTTTATTTATAAAGCAATAAATATTAGAAGCACAAACAAATTGCACGTGTGTAAACAAACTGTACAATGATTGATGAAAGATGAGGGAAGGTGGTTTGGAAGACTCCAAGAAGCATAATACCGTCATCCTGACTGGAAGGTAGATGGAGAGAGAAGGCATCTTAGAAGCATTTGCGGTGGACAATGGATGGGCCTGCCTCATCGTACTCTTGCTTGCTAATCCACATTTGCTGGAAGGTGGACAGAGAGGCCAGGATGGAGCCCCCAATCCAGACAGAGTATTTACGCTCAGGGGGAGCAATAATCTGCAGAAAGAAAACAAAAACTTCCAGTGAACTCTGAAGTTCCAAGCAAGGGAGCAAATAACACATTGGGAGGATTCACAGAAAAAAACCATTAGATATTAATTCGCTATAATGTGGGATATGTCATACCACGAAATAATGTGGCCAATCAAGTTATATGAACTCACCTCTATTTCATCATTTATATTATTAAAGATATATTCTATTATTAAAATGGAATTTCTCCACTTACCTAGAGTGTAATTTGGCAACAAGCTAAATGTGTAGTGGAGCCTAGCCCAAAAGTTGGGAGCTTTAAAAATGTATTCAAAGATTTTGTTGCGTGTGTGTGTGTCTTTTTTTTGTCAAAGATTTATTTTTATTCACTGCTTAAAAGCATTTTGGAAGTTACCTATCTTGGGAAAAGTGCTAAGAAAATCAGAAAAAGTGGTAGAAAAGCTAACAGGTAAAGTTTGTAGGAGACAAGAAACTGAGTATGAGGGAAAAGGAATTTGGAACGTAGTTCTGCTTAGAATACCAAGACTTGCCTCGGATCTCCCACTCACAAAAGTTCTTTACCTTAATCTTCATGGTGCTAGGAGCCAGAGCAGTGATTTCCTTCTGCATACGATCAGCAATACCAGGGTACATAGTGGTGCCTCCAGATAAGACATTGTTGGAATACAGGTCCTTGCGGATATCAATGTCACACTTCATGATGCTATTGTAAGTTGTTTCATGGATGCCAGCAGATTCCATACCTGGGAACGAGTCACACACACACACACACACACACACACACACACACACACACACACATCACAGTGCATTCAGGTCAAGGTAGAGGGAAGAGAACAGAACTTCTTTGTGTGGGGGAGCTGTCACCATTTGTCTCTGAAACATATGTTCCCCTATAAGACACACTGCAGGGTGGAATGGGTGCCTCACAGTTAATCCACAATACAATGCCAAGAAAGGAGCAACTGTGCTTAGCACCTGTTTCAAGTAAACACCTCCTGAAACTCTCAGATGTATGAAGATGTATTGGAAAAGGAAAAGATACACGTTTAAACTAAAATGAATGTAATTTTTGTTTATGGACTTAAATCAGATCCTGACAAAGTTCCTTATGGAAAGCATTGCTTAGGAAGGATATTTGTTGACATATAAGTGCCCAGTTATTAATATGAGTAGGAATGTTATTGCATTTAATGATGAGGAACTTGGAAAGTCCAGCTACTTGGTAGTGAAACTTACGGGAATAAGTCAGCTCTTGTGAACTAGCCCTTTTCCTGCAGATACGTGCTATTCAGTTACTACTCTGTGTCATCCTTTATTTTGAGATGAACTCAGTGTGTCATCCTTTATTATATCACTAGAGCAGAACATAGACTTCCCCTTTAATGAGCCATCAGGACTTGAGGTTGAGCTGTGTGGGAATCCAAACTATGACTTCTTTTAACTCAAGGGCTTCTTGAGCCTTCTAGATTTTACTCTGGGAGACCCTAAGATTTCCAGGGAAAATCGTGCCTCTGCACCAGACCCTACAACTCACCAATGAAGGAGGGCTGGAAGAGTGTCTCAGGACAGCGGAAGCGCTCATTGCCAATAGTGATGACTTGGCCATCAGGCAGTTCATAGCTCTTCTCCAGGGAGGAGGAAGAGGCAGCTGTGGCCATCTCATTCTCAAAATCCAGGGCGACATAGCACAGCTTCTCTTTAATGTCACGGACAATTTCACGTTCAGCTACAGAAATAAAGAGTATCACAGTCATGCTCTGAAGCAAGAAGTCAATTATAGGGAGGTAGGCGGATTCAGTGAGAGAGGAGGAAAGCAGACCCACACTGTGGCAGATGAGACACACACACTCACCAGTGGTGACAAAGGAGTAGCCACGCTCAGTGAGGATCTTCATGAGGTAGTCAGTGAGGTCCCGACCAGCCAGATCCAGACGCATGATGGCATGGGGCAAAGCGTAGCCCTCATAGATGGGGACATTGTGAGTTACACCATCCCCAGAGTCCAGAACAATGCCTGCCCGGGGAAGTAGACAAGAACAAGGTAAATTCCTGAGGACAACACCACTGCTCTAGCCACGGCAAAGCCCGCTTCCAATCTTGGCTAAGAGATGCTAGCAATGGGCATTGATCCAGATAAAATTAGATTCCTTACACACAAAGAATAAAAATGCGCATCAGGAATACTAAATCTGAAGCAAACTGCAGCTCATCTTTTTAACTATTATAGTAGAAAAAATTCCCGAGGACACTTTCAAATGACCATCTTTCTTGTCAGCCACGAGCACATTATGTAAGCACCCAAGGGTGTTTTTCTTTGCTCCTATTGAACTTACACGTTTCTCTCTCTTTTGACTCAGACCCTGTATGGAATGTATTCTCCTTGGGGATGCTTGCCCAGGTGATGTGATGGTTTAAACACATAACAATGACTGCTGCACTCCAAGCTGCTACACTGCGCTGAGCTTTAAATGAGGGAAGGACCTATCTCCACAAGCTATCAGCTCCAACAATAATTGTGCTCCGAAACTAACCTCAGGGCACTACTGTTAACTCTTTCTCTTAGCACAGACCTTGCTAGGGAATGGGAGGAAAGGGATTATCCCTTTTTCAACTGGGGGATCTGATTCACAGCAAGGTCGGTGACTTGGGAATGTGATTCATCAGTAACTGTCCCCAGAGCCCAGCATACCTGTGGTACGGCCAGAAG
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Task1_train_20511
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Consider this mutation in ACTC1, GJD2-DT (actin alpha cardiac muscle 1| GJD2 divergent transcript) on Chromosome 15. Is this a benign change or a disease-causing variant?
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Pathogenic; not provided
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AGTGGATTTTCTAAAATTCATCAGCACCTACCAGCCTGCCCCATGTCTTGTATCCTGGCTTCTGCCACACTTCCTTCTGCTGAGATGTCCTCTCTGCTCTTCTCACCTCCCTAATTCCTGACCATTCTCTAAGACCCAGACCCACATACATCTCCTTAAAGCCTCCAGGCCACACGCACTGGGGGATTATGTGTAGGTGTGTGAACTCCTCGAGGATGGAACACATTCAATTCTTTTCAACGCTGCCCCTAGCAGCCTTCCCACCATACTTTGCAGAGAGCTCTGCACAGAGCAAAGCAAACACTGTGGCTCTCGCCTCCCCTTGCTCCCTCAGGACCTCGCAGCCTTCAGTTCACTCAACCCAAGATCTCAAGATTTCAAAGAAACGAAGAGATTGAAGGCTTCTGTCTCGCAAGTTAGTCACTGATCAGGCAGAAGTGTTTGGCTCCTGCTTCCTCACATTTGTTTTGCACACACACAATGGTCTTGATATGTTTAGAGGGTATTTGCAATGGGATGTGGCTGGCCCAACTGTCAGCTAACCTTCATGTTTCTTTCATAGCCCCCAGGAAGAAAATTGAAGAGTTCAAAGAATTGAAAAGTTAAGCCAATTCATTTAAAATAATCTTTGACTTTCTCATTATCAATATATGTGTATTTTCTGCAAGGTTACAAAAACAACTGGAACATATGTTAAAATAATCTTCAGTGTCATCTGCAGCAACTAATTCTAGAGAACTATCTTATTCAATTTCATTTCTTACTTATATGGAACTAAACCTTAATCTGCTTTTCAGGTATGAAATATATTCATGATTCTGTCTCAAAATATGAAATCAAAAGTTAGCATTATAACTCCCAGCTAACTGTCATATTAATTCATCTGGATGAACCTTGTGGTACTGAACTTTGACAATGCTCAGGGTGTCAAAGCAAACACCTGCCCCACCCCACGCCTACCCCAAAAACAAACGAGAGGCTTTTATAGGTTGCAAGTCCTGGTCTGGTTTATTTATAAAGCAATAAATATTAGAAGCACAAACAAATTGCACGTGTGTAAACAAACTGTACAATGATTGATGAAAGATGAGGGAAGGTGGTTTGGAAGACTCCAAGAAGCATAATACCGTCATCCTGACTGGAAGGTAGATGGAGAGAGAAGGCATCTTAGAAGCATTTGCGGTGGACAATGGATGGGCCTGCCTCATCGTACTCTTGCTTGCTAATCCACATTTGCTGGAAGGTGGACAGAGAGGCCAGGATGGAGCCCCCAATCCAGACAGAGTATTTACGCTCAGGGGGAGCAATAATCTGCAGAAAGAAAACAAAAACTTCCAGTGAACTCTGAAGTTCCAAGCAAGGGAGCAAATAACACATTGGGAGGATTCACAGAAAAAAACCATTAGATATTAATTCGCTATAATGTGGGATATGTCATACCACGAAATAATGTGGCCAATCAAGTTATATGAACTCACCTCTATTTCATCATTTATATTATTAAAGATATATTCTATTATTAAAATGGAATTTCTCCACTTACCTAGAGTGTAATTTGGCAACAAGCTAAATGTGTAGTGGAGCCTAGCCCAAAAGTTGGGAGCTTTAAAAATGTATTCAAAGATTTTGTTGCGTGTGTGTGTGTCTTTTTTTTGTCAAAGATTTATTTTTATTCACTGCTTAAAAGCATTTTGGAAGTTACCTATCTTGGGAAAAGTGCTAAGAAAATCAGAAAAAGTGGTAGAAAAGCTAACAGGTAAAGTTTGTAGGAGACAAGAAACTGAGTATGAGGGAAAAGGAATTTGGAACGTAGTTCTGCTTAGAATACCAAGACTTGCCTCGGATCTCCCACTCACAAAAGTTCTTTACCTTAATCTTCATGGTGCTAGGAGCCAGAGCAGTGATTTCCTTCTGCATACGATCAGCAATACCAGGGTACATAGTGGTGCCTCCAGATAAGACATTGTTGGCATACAGGTCCTTGCGGATATCAATGTCACACTTCATGATGCTATTGTAAGTTGTTTCATGGATGCCAGCAGATTCCATACCTGGGAACGAGTCACACACACACACACACACACACACACACACACACACACACACACATCACAGTGCATTCAGGTCAAGGTAGAGGGAAGAGAACAGAACTTCTTTGTGTGGGGGAGCTGTCACCATTTGTCTCTGAAACATATGTTCCCCTATAAGACACACTGCAGGGTGGAATGGGTGCCTCACAGTTAATCCACAATACAATGCCAAGAAAGGAGCAACTGTGCTTAGCACCTGTTTCAAGTAAACACCTCCTGAAACTCTCAGATGTATGAAGATGTATTGGAAAAGGAAAAGATACACGTTTAAACTAAAATGAATGTAATTTTTGTTTATGGACTTAAATCAGATCCTGACAAAGTTCCTTATGGAAAGCATTGCTTAGGAAGGATATTTGTTGACATATAAGTGCCCAGTTATTAATATGAGTAGGAATGTTATTGCATTTAATGATGAGGAACTTGGAAAGTCCAGCTACTTGGTAGTGAAACTTACGGGAATAAGTCAGCTCTTGTGAACTAGCCCTTTTCCTGCAGATACGTGCTATTCAGTTACTACTCTGTGTCATCCTTTATTTTGAGATGAACTCAGTGTGTCATCCTTTATTATATCACTAGAGCAGAACATAGACTTCCCCTTTAATGAGCCATCAGGACTTGAGGTTGAGCTGTGTGGGAATCCAAACTATGACTTCTTTTAACTCAAGGGCTTCTTGAGCCTTCTAGATTTTACTCTGGGAGACCCTAAGATTTCCAGGGAAAATCGTGCCTCTGCACCAGACCCTACAACTCACCAATGAAGGAGGGCTGGAAGAGTGTCTCAGGACAGCGGAAGCGCTCATTGCCAATAGTGATGACTTGGCCATCAGGCAGTTCATAGCTCTTCTCCAGGGAGGAGGAAGAGGCAGCTGTGGCCATCTCATTCTCAAAATCCAGGGCGACATAGCACAGCTTCTCTTTAATGTCACGGACAATTTCACGTTCAGCTACAGAAATAAAGAGTATCACAGTCATGCTCTGAAGCAAGAAGTCAATTATAGGGAGGTAGGCGGATTCAGTGAGAGAGGAGGAAAGCAGACCCACACTGTGGCAGATGAGACACACACACTCACCAGTGGTGACAAAGGAGTAGCCACGCTCAGTGAGGATCTTCATGAGGTAGTCAGTGAGGTCCCGACCAGCCAGATCCAGACGCATGATGGCATGGGGCAAAGCGTAGCCCTCATAGATGGGGACATTGTGAGTTACACCATCCCCAGAGTCCAGAACAATGCCTGCCCGGGGAAGTAGACAAGAACAAGGTAAATTCCTGAGGACAACACCACTGCTCTAGCCACGGCAAAGCCCGCTTCCAATCTTGGCTAAGAGATGCTAGCAATGGGCATTGATCCAGATAAAATTAGATTCCTTACACACAAAGAATAAAAATGCGCATCAGGAATACTAAATCTGAAGCAAACTGCAGCTCATCTTTTTAACTATTATAGTAGAAAAAATTCCCGAGGACACTTTCAAATGACCATCTTTCTTGTCAGCCACGAGCACATTATGTAAGCACCCAAGGGTGTTTTTCTTTGCTCCTATTGAACTTACACGTTTCTCTCTCTTTTGACTCAGACCCTGTATGGAATGTATTCTCCTTGGGGATGCTTGCCCAGGTGATGTGATGGTTTAAACACATAACAATGACTGCTGCACTCCAAGCTGCTACACTGCGCTGAGCTTTAAATGAGGGAAGGACCTATCTCCACAAGCTATCAGCTCCAACAATAATTGTGCTCCGAAACTAACCTCAGGGCACTACTGTTAACTCTTTCTCTTAGCACAGACCTTGCTAGGGAATGGGAGGAAAGGGATTATCCCTTTTTCAACTGGGGGATCTGATTCACAGCAAGGTCGGTGACTTGGGAATGTGATTCATCAGTAACTGTCCCCAGAGCCCAGCATACCTGTGGTACGGCCAGAAGCATACAGGGATAGCACTGCCTGGATGGCCACGTACATGGCAGGGACATTGAAGGTCTCAAACATGATCTGAGTCATCT
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AGTGGATTTTCTAAAATTCATCAGCACCTACCAGCCTGCCCCATGTCTTGTATCCTGGCTTCTGCCACACTTCCTTCTGCTGAGATGTCCTCTCTGCTCTTCTCACCTCCCTAATTCCTGACCATTCTCTAAGACCCAGACCCACATACATCTCCTTAAAGCCTCCAGGCCACACGCACTGGGGGATTATGTGTAGGTGTGTGAACTCCTCGAGGATGGAACACATTCAATTCTTTTCAACGCTGCCCCTAGCAGCCTTCCCACCATACTTTGCAGAGAGCTCTGCACAGAGCAAAGCAAACACTGTGGCTCTCGCCTCCCCTTGCTCCCTCAGGACCTCGCAGCCTTCAGTTCACTCAACCCAAGATCTCAAGATTTCAAAGAAACGAAGAGATTGAAGGCTTCTGTCTCGCAAGTTAGTCACTGATCAGGCAGAAGTGTTTGGCTCCTGCTTCCTCACATTTGTTTTGCACACACACAATGGTCTTGATATGTTTAGAGGGTATTTGCAATGGGATGTGGCTGGCCCAACTGTCAGCTAACCTTCATGTTTCTTTCATAGCCCCCAGGAAGAAAATTGAAGAGTTCAAAGAATTGAAAAGTTAAGCCAATTCATTTAAAATAATCTTTGACTTTCTCATTATCAATATATGTGTATTTTCTGCAAGGTTACAAAAACAACTGGAACATATGTTAAAATAATCTTCAGTGTCATCTGCAGCAACTAATTCTAGAGAACTATCTTATTCAATTTCATTTCTTACTTATATGGAACTAAACCTTAATCTGCTTTTCAGGTATGAAATATATTCATGATTCTGTCTCAAAATATGAAATCAAAAGTTAGCATTATAACTCCCAGCTAACTGTCATATTAATTCATCTGGATGAACCTTGTGGTACTGAACTTTGACAATGCTCAGGGTGTCAAAGCAAACACCTGCCCCACCCCACGCCTACCCCAAAAACAAACGAGAGGCTTTTATAGGTTGCAAGTCCTGGTCTGGTTTATTTATAAAGCAATAAATATTAGAAGCACAAACAAATTGCACGTGTGTAAACAAACTGTACAATGATTGATGAAAGATGAGGGAAGGTGGTTTGGAAGACTCCAAGAAGCATAATACCGTCATCCTGACTGGAAGGTAGATGGAGAGAGAAGGCATCTTAGAAGCATTTGCGGTGGACAATGGATGGGCCTGCCTCATCGTACTCTTGCTTGCTAATCCACATTTGCTGGAAGGTGGACAGAGAGGCCAGGATGGAGCCCCCAATCCAGACAGAGTATTTACGCTCAGGGGGAGCAATAATCTGCAGAAAGAAAACAAAAACTTCCAGTGAACTCTGAAGTTCCAAGCAAGGGAGCAAATAACACATTGGGAGGATTCACAGAAAAAAACCATTAGATATTAATTCGCTATAATGTGGGATATGTCATACCACGAAATAATGTGGCCAATCAAGTTATATGAACTCACCTCTATTTCATCATTTATATTATTAAAGATATATTCTATTATTAAAATGGAATTTCTCCACTTACCTAGAGTGTAATTTGGCAACAAGCTAAATGTGTAGTGGAGCCTAGCCCAAAAGTTGGGAGCTTTAAAAATGTATTCAAAGATTTTGTTGCGTGTGTGTGTGTCTTTTTTTTGTCAAAGATTTATTTTTATTCACTGCTTAAAAGCATTTTGGAAGTTACCTATCTTGGGAAAAGTGCTAAGAAAATCAGAAAAAGTGGTAGAAAAGCTAACAGGTAAAGTTTGTAGGAGACAAGAAACTGAGTATGAGGGAAAAGGAATTTGGAACGTAGTTCTGCTTAGAATACCAAGACTTGCCTCGGATCTCCCACTCACAAAAGTTCTTTACCTTAATCTTCATGGTGCTAGGAGCCAGAGCAGTGATTTCCTTCTGCATACGATCAGCAATACCAGGGTACATAGTGGTGCCTCCAGATAAGACATTGTTGGCATACAGGTCCTTGCGGATATCAATGTCACACTTCATGATGCTATTGTAAGTTGTTTCATGGATGCCAGCAGATTCCACACCTGGGAACGAGTCACACACACACACACACACACACACACACACACACACACACACACATCACAGTGCATTCAGGTCAAGGTAGAGGGAAGAGAACAGAACTTCTTTGTGTGGGGGAGCTGTCACCATTTGTCTCTGAAACATATGTTCCCCTATAAGACACACTGCAGGGTGGAATGGGTGCCTCACAGTTAATCCACAATACAATGCCAAGAAAGGAGCAACTGTGCTTAGCACCTGTTTCAAGTAAACACCTCCTGAAACTCTCAGATGTATGAAGATGTATTGGAAAAGGAAAAGATACACGTTTAAACTAAAATGAATGTAATTTTTGTTTATGGACTTAAATCAGATCCTGACAAAGTTCCTTATGGAAAGCATTGCTTAGGAAGGATATTTGTTGACATATAAGTGCCCAGTTATTAATATGAGTAGGAATGTTATTGCATTTAATGATGAGGAACTTGGAAAGTCCAGCTACTTGGTAGTGAAACTTACGGGAATAAGTCAGCTCTTGTGAACTAGCCCTTTTCCTGCAGATACGTGCTATTCAGTTACTACTCTGTGTCATCCTTTATTTTGAGATGAACTCAGTGTGTCATCCTTTATTATATCACTAGAGCAGAACATAGACTTCCCCTTTAATGAGCCATCAGGACTTGAGGTTGAGCTGTGTGGGAATCCAAACTATGACTTCTTTTAACTCAAGGGCTTCTTGAGCCTTCTAGATTTTACTCTGGGAGACCCTAAGATTTCCAGGGAAAATCGTGCCTCTGCACCAGACCCTACAACTCACCAATGAAGGAGGGCTGGAAGAGTGTCTCAGGACAGCGGAAGCGCTCATTGCCAATAGTGATGACTTGGCCATCAGGCAGTTCATAGCTCTTCTCCAGGGAGGAGGAAGAGGCAGCTGTGGCCATCTCATTCTCAAAATCCAGGGCGACATAGCACAGCTTCTCTTTAATGTCACGGACAATTTCACGTTCAGCTACAGAAATAAAGAGTATCACAGTCATGCTCTGAAGCAAGAAGTCAATTATAGGGAGGTAGGCGGATTCAGTGAGAGAGGAGGAAAGCAGACCCACACTGTGGCAGATGAGACACACACACTCACCAGTGGTGACAAAGGAGTAGCCACGCTCAGTGAGGATCTTCATGAGGTAGTCAGTGAGGTCCCGACCAGCCAGATCCAGACGCATGATGGCATGGGGCAAAGCGTAGCCCTCATAGATGGGGACATTGTGAGTTACACCATCCCCAGAGTCCAGAACAATGCCTGCCCGGGGAAGTAGACAAGAACAAGGTAAATTCCTGAGGACAACACCACTGCTCTAGCCACGGCAAAGCCCGCTTCCAATCTTGGCTAAGAGATGCTAGCAATGGGCATTGATCCAGATAAAATTAGATTCCTTACACACAAAGAATAAAAATGCGCATCAGGAATACTAAATCTGAAGCAAACTGCAGCTCATCTTTTTAACTATTATAGTAGAAAAAATTCCCGAGGACACTTTCAAATGACCATCTTTCTTGTCAGCCACGAGCACATTATGTAAGCACCCAAGGGTGTTTTTCTTTGCTCCTATTGAACTTACACGTTTCTCTCTCTTTTGACTCAGACCCTGTATGGAATGTATTCTCCTTGGGGATGCTTGCCCAGGTGATGTGATGGTTTAAACACATAACAATGACTGCTGCACTCCAAGCTGCTACACTGCGCTGAGCTTTAAATGAGGGAAGGACCTATCTCCACAAGCTATCAGCTCCAACAATAATTGTGCTCCGAAACTAACCTCAGGGCACTACTGTTAACTCTTTCTCTTAGCACAGACCTTGCTAGGGAATGGGAGGAAAGGGATTATCCCTTTTTCAACTGGGGGATCTGATTCACAGCAAGGTCGGTGACTTGGGAATGTGATTCATCAGTAACTGTCCCCAGAGCCCAGCATACCTGTGGTACGGCCAGAAGCATACAGGGATAGCACTGCCTGGATGGCCACGTACATGGCAGGGACATTGAAGGTCTCAAACATGATCTGAGTCATCT
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Task1_train_20512
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Gene ACTC1, GJD2-DT (actin alpha cardiac muscle 1| GJD2 divergent transcript), found on Chromosome 15, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Cardiovascular phenotype
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GCTGGAAGGTGGACAGAGAGGCCAGGATGGAGCCCCCAATCCAGACAGAGTATTTACGCTCAGGGGGAGCAATAATCTGCAGAAAGAAAACAAAAACTTCCAGTGAACTCTGAAGTTCCAAGCAAGGGAGCAAATAACACATTGGGAGGATTCACAGAAAAAAACCATTAGATATTAATTCGCTATAATGTGGGATATGTCATACCACGAAATAATGTGGCCAATCAAGTTATATGAACTCACCTCTATTTCATCATTTATATTATTAAAGATATATTCTATTATTAAAATGGAATTTCTCCACTTACCTAGAGTGTAATTTGGCAACAAGCTAAATGTGTAGTGGAGCCTAGCCCAAAAGTTGGGAGCTTTAAAAATGTATTCAAAGATTTTGTTGCGTGTGTGTGTGTCTTTTTTTTGTCAAAGATTTATTTTTATTCACTGCTTAAAAGCATTTTGGAAGTTACCTATCTTGGGAAAAGTGCTAAGAAAATCAGAAAAAGTGGTAGAAAAGCTAACAGGTAAAGTTTGTAGGAGACAAGAAACTGAGTATGAGGGAAAAGGAATTTGGAACGTAGTTCTGCTTAGAATACCAAGACTTGCCTCGGATCTCCCACTCACAAAAGTTCTTTACCTTAATCTTCATGGTGCTAGGAGCCAGAGCAGTGATTTCCTTCTGCATACGATCAGCAATACCAGGGTACATAGTGGTGCCTCCAGATAAGACATTGTTGGCATACAGGTCCTTGCGGATATCAATGTCACACTTCATGATGCTATTGTAAGTTGTTTCATGGATGCCAGCAGATTCCATACCTGGGAACGAGTCACACACACACACACACACACACACACACACACACACACACACACATCACAGTGCATTCAGGTCAAGGTAGAGGGAAGAGAACAGAACTTCTTTGTGTGGGGGAGCTGTCACCATTTGTCTCTGAAACATATGTTCCCCTATAAGACACACTGCAGGGTGGAATGGGTGCCTCACAGTTAATCCACAATACAATGCCAAGAAAGGAGCAACTGTGCTTAGCACCTGTTTCAAGTAAACACCTCCTGAAACTCTCAGATGTATGAAGATGTATTGGAAAAGGAAAAGATACACGTTTAAACTAAAATGAATGTAATTTTTGTTTATGGACTTAAATCAGATCCTGACAAAGTTCCTTATGGAAAGCATTGCTTAGGAAGGATATTTGTTGACATATAAGTGCCCAGTTATTAATATGAGTAGGAATGTTATTGCATTTAATGATGAGGAACTTGGAAAGTCCAGCTACTTGGTAGTGAAACTTACGGGAATAAGTCAGCTCTTGTGAACTAGCCCTTTTCCTGCAGATACGTGCTATTCAGTTACTACTCTGTGTCATCCTTTATTTTGAGATGAACTCAGTGTGTCATCCTTTATTATATCACTAGAGCAGAACATAGACTTCCCCTTTAATGAGCCATCAGGACTTGAGGTTGAGCTGTGTGGGAATCCAAACTATGACTTCTTTTAACTCAAGGGCTTCTTGAGCCTTCTAGATTTTACTCTGGGAGACCCTAAGATTTCCAGGGAAAATCGTGCCTCTGCACCAGACCCTACAACTCACCAATGAAGGAGGGCTGGAAGAGTGTCTCAGGACAGCGGAAGCGCTCATTGCCAATAGTGATGACTTGGCCATCAGGCAGTTCATAGCTCTTCTCCAGGGAGGAGGAAGAGGCAGCTGTGGCCATCTCATTCTCAAAATCCAGGGCGACATAGCACAGCTTCTCTTTAATGTCACGGACAATTTCACGTTCAGCTACAGAAATAAAGAGTATCACAGTCATGCTCTGAAGCAAGAAGTCAATTATAGGGAGGTAGGCGGATTCAGTGAGAGAGGAGGAAAGCAGACCCACACTGTGGCAGATGAGACACACACACTCACCAGTGGTGACAAAGGAGTAGCCACGCTCAGTGAGGATCTTCATGAGGTAGTCAGTGAGGTCCCGACCAGCCAGATCCAGACGCATGATGGCATGGGGCAAAGCGTAGCCCTCATAGATGGGGACATTGTGAGTTACACCATCCCCAGAGTCCAGAACAATGCCTGCCCGGGGAAGTAGACAAGAACAAGGTAAATTCCTGAGGACAACACCACTGCTCTAGCCACGGCAAAGCCCGCTTCCAATCTTGGCTAAGAGATGCTAGCAATGGGCATTGATCCAGATAAAATTAGATTCCTTACACACAAAGAATAAAAATGCGCATCAGGAATACTAAATCTGAAGCAAACTGCAGCTCATCTTTTTAACTATTATAGTAGAAAAAATTCCCGAGGACACTTTCAAATGACCATCTTTCTTGTCAGCCACGAGCACATTATGTAAGCACCCAAGGGTGTTTTTCTTTGCTCCTATTGAACTTACACGTTTCTCTCTCTTTTGACTCAGACCCTGTATGGAATGTATTCTCCTTGGGGATGCTTGCCCAGGTGATGTGATGGTTTAAACACATAACAATGACTGCTGCACTCCAAGCTGCTACACTGCGCTGAGCTTTAAATGAGGGAAGGACCTATCTCCACAAGCTATCAGCTCCAACAATAATTGTGCTCCGAAACTAACCTCAGGGCACTACTGTTAACTCTTTCTCTTAGCACAGACCTTGCTAGGGAATGGGAGGAAAGGGATTATCCCTTTTTCAACTGGGGGATCTGATTCACAGCAAGGTCGGTGACTTGGGAATGTGATTCATCAGTAACTGTCCCCAGAGCCCAGCATACCTGTGGTACGGCCAGAAGCATACAGGGATAGCACTGCCTGGATGGCCACGTACATGGCAGGGACATTGAAGGTCTCAAACATGATCTGAGTCATCTTCTCCCGGTTGGCCTTGGGGTTCAGCGGGGCCTCTGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACACGGAGCTCATTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCGTCCCAGTTGGTGATGATACCATGCTCGATGGGATACTTCAGGGTCAGGATGCCTCTCTTGCTCTGGGCTTCATCACCTACGTAGGAGTCCTTCTGACCCATACCCACCATAACTCCCTATGAGAAGAAAAAATGAGAAAATCATGCTCTCACCATGTCAGGAATATAATCAGTGTCTTGTCCATTTATATCTAACTGCCCAAGTCAAGGAACATATTTAAATACCAGAAATAACAAGCAATACGATTTTACCCCAATTTAGAAGAATTATTTAAAAATCAATCTTCTACCTTCTCCCCACTCCCCCAAAGATGTATAATTCTATTGTTGAGAATATAACTCAGGAGAGAATGAAGCTATTCCACTGAAGAAGCAGAGCCTCACCTCACCTTAAAAATATCATATGCCTTCATTAAGTTATTAAGCTCATCACCCATGTCAACTGGAATATAGATGACTGCATTTTGGAATGACTGAATTAATGACACATTGTATTTCTCCTAAGAAAAAGATTTTGACATTCAAGTGAACACATAATGATGGGCTGATATGCCATCCTCACTCCAACAGTGAAATTCAGCCTGTCCAGAGCTGTTCTGGAGTCATTCACCAGCTCTGAGGACTAAGCTCTCCTGCTTGGCAGCCTGTCTGGCCAGGCATGTGACAAACCCAGAGAGCATGGCATGTCTTTTAACAAACGAGGTGGTATGTCACTATCACCATGGCACTTGCTGCCTCTGTCACGCCTGGCTTCTAAAAATGCAACAGCCAGGAAGGAGATAGATTGATTACACCTTTGGGGAACCCTGTAAACTGGCTGTGAACATGAGAGAGGAATGTGGATTTGGTCCTGGTTGGTTGGGAGAGGTGATATTGTTAGAAGTTTTAAACAGGACTGAAAAGAGAGGACAAGGAAGAAAATGAAGTGTATAAGGCAGAGAAGACACTAAAGACTAAAAGTCCAAAAGGCCATTAGTGGAGAGAAGCAGGTGGCTTTCACACCAGGGAGTGGGACCCTTTTAGAGGCGTGCCACTCAGGTGTACATTCCTCAGTATGTTGGGGTTTTGTGGAGTATTGCTTGCCTTGGCTTGGATTTGAAGTCAATCAGCCTTCTCTTAATTT
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GCTGGAAGGTGGACAGAGAGGCCAGGATGGAGCCCCCAATCCAGACAGAGTATTTACGCTCAGGGGGAGCAATAATCTGCAGAAAGAAAACAAAAACTTCCAGTGAACTCTGAAGTTCCAAGCAAGGGAGCAAATAACACATTGGGAGGATTCACAGAAAAAAACCATTAGATATTAATTCGCTATAATGTGGGATATGTCATACCACGAAATAATGTGGCCAATCAAGTTATATGAACTCACCTCTATTTCATCATTTATATTATTAAAGATATATTCTATTATTAAAATGGAATTTCTCCACTTACCTAGAGTGTAATTTGGCAACAAGCTAAATGTGTAGTGGAGCCTAGCCCAAAAGTTGGGAGCTTTAAAAATGTATTCAAAGATTTTGTTGCGTGTGTGTGTGTCTTTTTTTTGTCAAAGATTTATTTTTATTCACTGCTTAAAAGCATTTTGGAAGTTACCTATCTTGGGAAAAGTGCTAAGAAAATCAGAAAAAGTGGTAGAAAAGCTAACAGGTAAAGTTTGTAGGAGACAAGAAACTGAGTATGAGGGAAAAGGAATTTGGAACGTAGTTCTGCTTAGAATACCAAGACTTGCCTCGGATCTCCCACTCACAAAAGTTCTTTACCTTAATCTTCATGGTGCTAGGAGCCAGAGCAGTGATTTCCTTCTGCATACGATCAGCAATACCAGGGTACATAGTGGTGCCTCCAGATAAGACATTGTTGGCATACAGGTCCTTGCGGATATCAATGTCACACTTCATGATGCTATTGTAAGTTGTTTCATGGATGCCAGCAGATTCCATACCTGGGAACGAGTCACACACACACACACACACACACACACACACACACACACACACACATCACAGTGCATTCAGGTCAAGGTAGAGGGAAGAGAACAGAACTTCTTTGTGTGGGGGAGCTGTCACCATTTGTCTCTGAAACATATGTTCCCCTATAAGACACACTGCAGGGTGGAATGGGTGCCTCACAGTTAATCCACAATACAATGCCAAGAAAGGAGCAACTGTGCTTAGCACCTGTTTCAAGTAAACACCTCCTGAAACTCTCAGATGTATGAAGATGTATTGGAAAAGGAAAAGATACACGTTTAAACTAAAATGAATGTAATTTTTGTTTATGGACTTAAATCAGATCCTGACAAAGTTCCTTATGGAAAGCATTGCTTAGGAAGGATATTTGTTGACATATAAGTGCCCAGTTATTAATATGAGTAGGAATGTTATTGCATTTAATGATGAGGAACTTGGAAAGTCCAGCTACTTGGTAGTGAAACTTACGGGAATAAGTCAGCTCTTGTGAACTAGCCCTTTTCCTGCAGATACGTGCTATTCAGTTACTACTCTGTGTCATCCTTTATTTTGAGATGAACTCAGTGTGTCATCCTTTATTATATCACTAGAGCAGAACATAGACTTCCCCTTTAATGAGCCATCAGGACTTGAGGTTGAGCTGTGTGGGAATCCAAACTATGACTTCTTTTAACTCAAGGGCTTCTTGAGCCTTCTAGATTTTACTCTGGGAGACCCTAAGATTTCCAGGGAAAATCGTGCCTCTGCACCAGACCCTACAACTCACCAATGAAGGAGGGCTGGAAGAGTGTCTCAGGACAGCGGAAGCGCTCATTGCCAATAGTGATGACTTGGCCATCAGGCAGTTCATAGCTCTTCTCCAGGGAGGAGGAAGAGGCAGCTGTGGCCATCTCATTCTCAAAATCCAGGGCGACATAGCACAGCTTCTCTTTAATGTCACGGACAATTTCACGTTCAGCTACAGAAATAAAGAGTATCACAGTCATGCTCTGAAGCAAGAAGTCAATTATAGGGAGGTAGGCGGATTCAGTGAGAGAGGAGGAAAGCAGACCCACACTGTGGCAGATGAGACACACACACTCACCAGTGGTGACAAAGGAGTAGCCACGCTCAGTGAGGATCTTCATGAGGTAGTCAGTGAGGTCCCGACCAGCCAGATCCAGACGCATGATGGCATGGGGCAAAGCGTAGCCCTCATAGATGGCGACATTGTGAGTTACACCATCCCCAGAGTCCAGAACAATGCCTGCCCGGGGAAGTAGACAAGAACAAGGTAAATTCCTGAGGACAACACCACTGCTCTAGCCACGGCAAAGCCCGCTTCCAATCTTGGCTAAGAGATGCTAGCAATGGGCATTGATCCAGATAAAATTAGATTCCTTACACACAAAGAATAAAAATGCGCATCAGGAATACTAAATCTGAAGCAAACTGCAGCTCATCTTTTTAACTATTATAGTAGAAAAAATTCCCGAGGACACTTTCAAATGACCATCTTTCTTGTCAGCCACGAGCACATTATGTAAGCACCCAAGGGTGTTTTTCTTTGCTCCTATTGAACTTACACGTTTCTCTCTCTTTTGACTCAGACCCTGTATGGAATGTATTCTCCTTGGGGATGCTTGCCCAGGTGATGTGATGGTTTAAACACATAACAATGACTGCTGCACTCCAAGCTGCTACACTGCGCTGAGCTTTAAATGAGGGAAGGACCTATCTCCACAAGCTATCAGCTCCAACAATAATTGTGCTCCGAAACTAACCTCAGGGCACTACTGTTAACTCTTTCTCTTAGCACAGACCTTGCTAGGGAATGGGAGGAAAGGGATTATCCCTTTTTCAACTGGGGGATCTGATTCACAGCAAGGTCGGTGACTTGGGAATGTGATTCATCAGTAACTGTCCCCAGAGCCCAGCATACCTGTGGTACGGCCAGAAGCATACAGGGATAGCACTGCCTGGATGGCCACGTACATGGCAGGGACATTGAAGGTCTCAAACATGATCTGAGTCATCTTCTCCCGGTTGGCCTTGGGGTTCAGCGGGGCCTCTGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACACGGAGCTCATTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCGTCCCAGTTGGTGATGATACCATGCTCGATGGGATACTTCAGGGTCAGGATGCCTCTCTTGCTCTGGGCTTCATCACCTACGTAGGAGTCCTTCTGACCCATACCCACCATAACTCCCTATGAGAAGAAAAAATGAGAAAATCATGCTCTCACCATGTCAGGAATATAATCAGTGTCTTGTCCATTTATATCTAACTGCCCAAGTCAAGGAACATATTTAAATACCAGAAATAACAAGCAATACGATTTTACCCCAATTTAGAAGAATTATTTAAAAATCAATCTTCTACCTTCTCCCCACTCCCCCAAAGATGTATAATTCTATTGTTGAGAATATAACTCAGGAGAGAATGAAGCTATTCCACTGAAGAAGCAGAGCCTCACCTCACCTTAAAAATATCATATGCCTTCATTAAGTTATTAAGCTCATCACCCATGTCAACTGGAATATAGATGACTGCATTTTGGAATGACTGAATTAATGACACATTGTATTTCTCCTAAGAAAAAGATTTTGACATTCAAGTGAACACATAATGATGGGCTGATATGCCATCCTCACTCCAACAGTGAAATTCAGCCTGTCCAGAGCTGTTCTGGAGTCATTCACCAGCTCTGAGGACTAAGCTCTCCTGCTTGGCAGCCTGTCTGGCCAGGCATGTGACAAACCCAGAGAGCATGGCATGTCTTTTAACAAACGAGGTGGTATGTCACTATCACCATGGCACTTGCTGCCTCTGTCACGCCTGGCTTCTAAAAATGCAACAGCCAGGAAGGAGATAGATTGATTACACCTTTGGGGAACCCTGTAAACTGGCTGTGAACATGAGAGAGGAATGTGGATTTGGTCCTGGTTGGTTGGGAGAGGTGATATTGTTAGAAGTTTTAAACAGGACTGAAAAGAGAGGACAAGGAAGAAAATGAAGTGTATAAGGCAGAGAAGACACTAAAGACTAAAAGTCCAAAAGGCCATTAGTGGAGAGAAGCAGGTGGCTTTCACACCAGGGAGTGGGACCCTTTTAGAGGCGTGCCACTCAGGTGTACATTCCTCAGTATGTTGGGGTTTTGTGGAGTATTGCTTGCCTTGGCTTGGATTTGAAGTCAATCAGCCTTCTCTTAATTT
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Task1_train_20513
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A genomic change on Chromosome 15 affects ACTC1, GJD2-DT (actin alpha cardiac muscle 1| GJD2 divergent transcript). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Atrial septal defect 5
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TGCCAGCAGATTCCATACCTGGGAACGAGTCACACACACACACACACACACACACACACACACACACACACACACATCACAGTGCATTCAGGTCAAGGTAGAGGGAAGAGAACAGAACTTCTTTGTGTGGGGGAGCTGTCACCATTTGTCTCTGAAACATATGTTCCCCTATAAGACACACTGCAGGGTGGAATGGGTGCCTCACAGTTAATCCACAATACAATGCCAAGAAAGGAGCAACTGTGCTTAGCACCTGTTTCAAGTAAACACCTCCTGAAACTCTCAGATGTATGAAGATGTATTGGAAAAGGAAAAGATACACGTTTAAACTAAAATGAATGTAATTTTTGTTTATGGACTTAAATCAGATCCTGACAAAGTTCCTTATGGAAAGCATTGCTTAGGAAGGATATTTGTTGACATATAAGTGCCCAGTTATTAATATGAGTAGGAATGTTATTGCATTTAATGATGAGGAACTTGGAAAGTCCAGCTACTTGGTAGTGAAACTTACGGGAATAAGTCAGCTCTTGTGAACTAGCCCTTTTCCTGCAGATACGTGCTATTCAGTTACTACTCTGTGTCATCCTTTATTTTGAGATGAACTCAGTGTGTCATCCTTTATTATATCACTAGAGCAGAACATAGACTTCCCCTTTAATGAGCCATCAGGACTTGAGGTTGAGCTGTGTGGGAATCCAAACTATGACTTCTTTTAACTCAAGGGCTTCTTGAGCCTTCTAGATTTTACTCTGGGAGACCCTAAGATTTCCAGGGAAAATCGTGCCTCTGCACCAGACCCTACAACTCACCAATGAAGGAGGGCTGGAAGAGTGTCTCAGGACAGCGGAAGCGCTCATTGCCAATAGTGATGACTTGGCCATCAGGCAGTTCATAGCTCTTCTCCAGGGAGGAGGAAGAGGCAGCTGTGGCCATCTCATTCTCAAAATCCAGGGCGACATAGCACAGCTTCTCTTTAATGTCACGGACAATTTCACGTTCAGCTACAGAAATAAAGAGTATCACAGTCATGCTCTGAAGCAAGAAGTCAATTATAGGGAGGTAGGCGGATTCAGTGAGAGAGGAGGAAAGCAGACCCACACTGTGGCAGATGAGACACACACACTCACCAGTGGTGACAAAGGAGTAGCCACGCTCAGTGAGGATCTTCATGAGGTAGTCAGTGAGGTCCCGACCAGCCAGATCCAGACGCATGATGGCATGGGGCAAAGCGTAGCCCTCATAGATGGGGACATTGTGAGTTACACCATCCCCAGAGTCCAGAACAATGCCTGCCCGGGGAAGTAGACAAGAACAAGGTAAATTCCTGAGGACAACACCACTGCTCTAGCCACGGCAAAGCCCGCTTCCAATCTTGGCTAAGAGATGCTAGCAATGGGCATTGATCCAGATAAAATTAGATTCCTTACACACAAAGAATAAAAATGCGCATCAGGAATACTAAATCTGAAGCAAACTGCAGCTCATCTTTTTAACTATTATAGTAGAAAAAATTCCCGAGGACACTTTCAAATGACCATCTTTCTTGTCAGCCACGAGCACATTATGTAAGCACCCAAGGGTGTTTTTCTTTGCTCCTATTGAACTTACACGTTTCTCTCTCTTTTGACTCAGACCCTGTATGGAATGTATTCTCCTTGGGGATGCTTGCCCAGGTGATGTGATGGTTTAAACACATAACAATGACTGCTGCACTCCAAGCTGCTACACTGCGCTGAGCTTTAAATGAGGGAAGGACCTATCTCCACAAGCTATCAGCTCCAACAATAATTGTGCTCCGAAACTAACCTCAGGGCACTACTGTTAACTCTTTCTCTTAGCACAGACCTTGCTAGGGAATGGGAGGAAAGGGATTATCCCTTTTTCAACTGGGGGATCTGATTCACAGCAAGGTCGGTGACTTGGGAATGTGATTCATCAGTAACTGTCCCCAGAGCCCAGCATACCTGTGGTACGGCCAGAAGCATACAGGGATAGCACTGCCTGGATGGCCACGTACATGGCAGGGACATTGAAGGTCTCAAACATGATCTGAGTCATCTTCTCCCGGTTGGCCTTGGGGTTCAGCGGGGCCTCTGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACACGGAGCTCATTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCGTCCCAGTTGGTGATGATACCATGCTCGATGGGATACTTCAGGGTCAGGATGCCTCTCTTGCTCTGGGCTTCATCACCTACGTAGGAGTCCTTCTGACCCATACCCACCATAACTCCCTATGAGAAGAAAAAATGAGAAAATCATGCTCTCACCATGTCAGGAATATAATCAGTGTCTTGTCCATTTATATCTAACTGCCCAAGTCAAGGAACATATTTAAATACCAGAAATAACAAGCAATACGATTTTACCCCAATTTAGAAGAATTATTTAAAAATCAATCTTCTACCTTCTCCCCACTCCCCCAAAGATGTATAATTCTATTGTTGAGAATATAACTCAGGAGAGAATGAAGCTATTCCACTGAAGAAGCAGAGCCTCACCTCACCTTAAAAATATCATATGCCTTCATTAAGTTATTAAGCTCATCACCCATGTCAACTGGAATATAGATGACTGCATTTTGGAATGACTGAATTAATGACACATTGTATTTCTCCTAAGAAAAAGATTTTGACATTCAAGTGAACACATAATGATGGGCTGATATGCCATCCTCACTCCAACAGTGAAATTCAGCCTGTCCAGAGCTGTTCTGGAGTCATTCACCAGCTCTGAGGACTAAGCTCTCCTGCTTGGCAGCCTGTCTGGCCAGGCATGTGACAAACCCAGAGAGCATGGCATGTCTTTTAACAAACGAGGTGGTATGTCACTATCACCATGGCACTTGCTGCCTCTGTCACGCCTGGCTTCTAAAAATGCAACAGCCAGGAAGGAGATAGATTGATTACACCTTTGGGGAACCCTGTAAACTGGCTGTGAACATGAGAGAGGAATGTGGATTTGGTCCTGGTTGGTTGGGAGAGGTGATATTGTTAGAAGTTTTAAACAGGACTGAAAAGAGAGGACAAGGAAGAAAATGAAGTGTATAAGGCAGAGAAGACACTAAAGACTAAAAGTCCAAAAGGCCATTAGTGGAGAGAAGCAGGTGGCTTTCACACCAGGGAGTGGGACCCTTTTAGAGGCGTGCCACTCAGGTGTACATTCCTCAGTATGTTGGGGTTTTGTGGAGTATTGCTTGCCTTGGCTTGGATTTGAAGTCAATCAGCCTTCTCTTAATTTGGCCTAAAGAGTTCATCGAACAAGAGGGTCAGGTGAGAGCCATTTCCTAGATCGCTGGACTGAAGGGGTCCCGAGTGGGACGGGGGGCTCGGCGGGAAGTTTACCTGGTGCCGCGGGCGGCCCACGATGGACGGGAAGACAGCGCGGGGCGCGTCATCGCCCGCAAAGCCGGCCTTCACCAGCCCAGAGCCGTTGTCGCACACCAGGGCGGTGGTCTCCTCGTCGTCACACATCTTGGCACAGCTTCAGGGGGTTCTGCAGGTTGAGGAGGGGAGGGCGGACCACGCTTAGCTGCCTGTGCAGCTGGCCTTCTCCGCACCCAGAGGACAGGACAGAGCAGAAGGGGGTTGTGGGGACTGGACAGGGGGTTGGGCGGGGAACACTCCTGCCACCTCCCTTCCCCTCGAATCATAAAAGGGAGGGAAGAAGCCGCGGAGGAGACTGGGGACAGAGAAGGGCAGAGGAATCCACCCAGGCTCCCTGGCCAGGAGTTCCAGCTAGGGTGCCAGGTGCAAGGAGGGACCCAAGAAACCCAGCCCCTTAGTCCTCCCCAGCCCTTTAACTTTCTTCCTTTTCACGAACTGGGAACTCGATCTCCAGCCCTGTCCATATCGCCATGCCTGTGCCCCAGATGGAGGGGAAAGCGCACGAGAGTAGGGACCCAAAAGCCCCTTGGGGAGCCACAAAATTCCCCTTCTTAGAGCCCCTGCGAGGTCCTGCGAGGACCAACGCCCAGGACAAAACAAGTTAGAACCAAATCAAAAAGTGTGGGCTTTAAAAAAAAAAAAAAAAAGGCAG
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TGCCAGCAGATTCCATACCTGGGAACGAGTCACACACACACACACACACACACACACACACACACACACACACACATCACAGTGCATTCAGGTCAAGGTAGAGGGAAGAGAACAGAACTTCTTTGTGTGGGGGAGCTGTCACCATTTGTCTCTGAAACATATGTTCCCCTATAAGACACACTGCAGGGTGGAATGGGTGCCTCACAGTTAATCCACAATACAATGCCAAGAAAGGAGCAACTGTGCTTAGCACCTGTTTCAAGTAAACACCTCCTGAAACTCTCAGATGTATGAAGATGTATTGGAAAAGGAAAAGATACACGTTTAAACTAAAATGAATGTAATTTTTGTTTATGGACTTAAATCAGATCCTGACAAAGTTCCTTATGGAAAGCATTGCTTAGGAAGGATATTTGTTGACATATAAGTGCCCAGTTATTAATATGAGTAGGAATGTTATTGCATTTAATGATGAGGAACTTGGAAAGTCCAGCTACTTGGTAGTGAAACTTACGGGAATAAGTCAGCTCTTGTGAACTAGCCCTTTTCCTGCAGATACGTGCTATTCAGTTACTACTCTGTGTCATCCTTTATTTTGAGATGAACTCAGTGTGTCATCCTTTATTATATCACTAGAGCAGAACATAGACTTCCCCTTTAATGAGCCATCAGGACTTGAGGTTGAGCTGTGTGGGAATCCAAACTATGACTTCTTTTAACTCAAGGGCTTCTTGAGCCTTCTAGATTTTACTCTGGGAGACCCTAAGATTTCCAGGGAAAATCGTGCCTCTGCACCAGACCCTACAACTCACCAATGAAGGAGGGCTGGAAGAGTGTCTCAGGACAGCGGAAGCGCTCATTGCCAATAGTGATGACTTGGCCATCAGGCAGTTCATAGCTCTTCTCCAGGGAGGAGGAAGAGGCAGCTGTGGCCATCTCATTCTCAAAATCCAGGGCGACATAGCACAGCTTCTCTTTAATGTCACGGACAATTTCACGTTCAGCTACAGAAATAAAGAGTATCACAGTCATGCTCTGAAGCAAGAAGTCAATTATAGGGAGGTAGGCGGATTCAGTGAGAGAGGAGGAAAGCAGACCCACACTGTGGCAGATGAGACACACACACTCACCAGTGGTGACAAAGGAGTAGCCACGCTCAGTGAGGATCTTCATGAGGTAGTCAGTGAGGTCCCGACCAGCCAGATCCAGACGCATGATGGCATGGGGCAAAGCGTAGCCCTCATAGATGGGGACATTGTGAGTTACACCATCCCCAGAGTCCAGAACAATGCCTGCCCGGGGAAGTAGACAAGAACAAGGTAAATTCCTGAGGACAACACCACTGCTCTAGCCACGGCAAAGCCCGCTTCCAATCTTGGCTAAGAGATGCTAGCAATGGGCATTGATCCAGATAAAATTAGATTCCTTACACACAAAGAATAAAAATGCGCATCAGGAATACTAAATCTGAAGCAAACTGCAGCTCATCTTTTTAACTATTATAGTAGAAAAAATTCCCGAGGACACTTTCAAATGACCATCTTTCTTGTCAGCCACGAGCACATTATGTAAGCACCCAAGGGTGTTTTTCTTTGCTCCTATTGAACTTACACGTTTCTCTCTCTTTTGACTCAGACCCTGTATGGAATGTATTCTCCTTGGGGATGCTTGCCCAGGTGATGTGATGGTTTAAACACATAACAATGACTGCTGCACTCCAAGCTGCTACACTGCGCTGAGCTTTAAATGAGGGAAGGACCTATCTCCACAAGCTATCAGCTCCAACAATAATTGTGCTCCGAAACTAACCTCAGGGCACTACTGTTAACTCTTTCTCTTAGCACAGACCTTGCTAGGGAATGGGAGGAAAGGGATTATCCCTTTTTCAACTGGGGGATCTGATTCACAGCAAGGTCGGTGACTTGGGAATGTGATTCATCAGTAACTGTCCCCAGAGCCCAGCATACCTGTGGTACGGCCAGAAGCATACAGGGATAGCACTGCCTGGATGGCCACGTACATGGCAGGGACATTGAAGGTCTCAAACACGATCTGAGTCATCTTCTCCCGGTTGGCCTTGGGGTTCAGCGGGGCCTCTGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACACGGAGCTCATTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCGTCCCAGTTGGTGATGATACCATGCTCGATGGGATACTTCAGGGTCAGGATGCCTCTCTTGCTCTGGGCTTCATCACCTACGTAGGAGTCCTTCTGACCCATACCCACCATAACTCCCTATGAGAAGAAAAAATGAGAAAATCATGCTCTCACCATGTCAGGAATATAATCAGTGTCTTGTCCATTTATATCTAACTGCCCAAGTCAAGGAACATATTTAAATACCAGAAATAACAAGCAATACGATTTTACCCCAATTTAGAAGAATTATTTAAAAATCAATCTTCTACCTTCTCCCCACTCCCCCAAAGATGTATAATTCTATTGTTGAGAATATAACTCAGGAGAGAATGAAGCTATTCCACTGAAGAAGCAGAGCCTCACCTCACCTTAAAAATATCATATGCCTTCATTAAGTTATTAAGCTCATCACCCATGTCAACTGGAATATAGATGACTGCATTTTGGAATGACTGAATTAATGACACATTGTATTTCTCCTAAGAAAAAGATTTTGACATTCAAGTGAACACATAATGATGGGCTGATATGCCATCCTCACTCCAACAGTGAAATTCAGCCTGTCCAGAGCTGTTCTGGAGTCATTCACCAGCTCTGAGGACTAAGCTCTCCTGCTTGGCAGCCTGTCTGGCCAGGCATGTGACAAACCCAGAGAGCATGGCATGTCTTTTAACAAACGAGGTGGTATGTCACTATCACCATGGCACTTGCTGCCTCTGTCACGCCTGGCTTCTAAAAATGCAACAGCCAGGAAGGAGATAGATTGATTACACCTTTGGGGAACCCTGTAAACTGGCTGTGAACATGAGAGAGGAATGTGGATTTGGTCCTGGTTGGTTGGGAGAGGTGATATTGTTAGAAGTTTTAAACAGGACTGAAAAGAGAGGACAAGGAAGAAAATGAAGTGTATAAGGCAGAGAAGACACTAAAGACTAAAAGTCCAAAAGGCCATTAGTGGAGAGAAGCAGGTGGCTTTCACACCAGGGAGTGGGACCCTTTTAGAGGCGTGCCACTCAGGTGTACATTCCTCAGTATGTTGGGGTTTTGTGGAGTATTGCTTGCCTTGGCTTGGATTTGAAGTCAATCAGCCTTCTCTTAATTTGGCCTAAAGAGTTCATCGAACAAGAGGGTCAGGTGAGAGCCATTTCCTAGATCGCTGGACTGAAGGGGTCCCGAGTGGGACGGGGGGCTCGGCGGGAAGTTTACCTGGTGCCGCGGGCGGCCCACGATGGACGGGAAGACAGCGCGGGGCGCGTCATCGCCCGCAAAGCCGGCCTTCACCAGCCCAGAGCCGTTGTCGCACACCAGGGCGGTGGTCTCCTCGTCGTCACACATCTTGGCACAGCTTCAGGGGGTTCTGCAGGTTGAGGAGGGGAGGGCGGACCACGCTTAGCTGCCTGTGCAGCTGGCCTTCTCCGCACCCAGAGGACAGGACAGAGCAGAAGGGGGTTGTGGGGACTGGACAGGGGGTTGGGCGGGGAACACTCCTGCCACCTCCCTTCCCCTCGAATCATAAAAGGGAGGGAAGAAGCCGCGGAGGAGACTGGGGACAGAGAAGGGCAGAGGAATCCACCCAGGCTCCCTGGCCAGGAGTTCCAGCTAGGGTGCCAGGTGCAAGGAGGGACCCAAGAAACCCAGCCCCTTAGTCCTCCCCAGCCCTTTAACTTTCTTCCTTTTCACGAACTGGGAACTCGATCTCCAGCCCTGTCCATATCGCCATGCCTGTGCCCCAGATGGAGGGGAAAGCGCACGAGAGTAGGGACCCAAAAGCCCCTTGGGGAGCCACAAAATTCCCCTTCTTAGAGCCCCTGCGAGGTCCTGCGAGGACCAACGCCCAGGACAAAACAAGTTAGAACCAAATCAAAAAGTGTGGGCTTTAAAAAAAAAAAAAAAAAGGCAG
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Task1_train_20514
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This sequence variant lies in MEIS2 (Meis homeobox 2) on Chromosome 15. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
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GGGCAAGGAAAAATAAAATGGGGGCAAATTATAAAAAATAAAATAAAGTCTCTGAAGTGATAGTGAAGACAGATCGCACCCGACTGTACTTACTTCCCCCTTGCTTTGCGATTGCTTTACATGATGAAGGTTACATGTAGTGCCATTGCCCATCCATGCCCATATTCATGCCCATTCCACTCATAGGTCCTAGAAAGGAGATAAAATCCAAGAAGAGGCCGGAAAATCAGCAATAATTGATGGTGAAAAAATAGAAGGAAACTCAGATTCCTTTTCACTTATTGCCTTGGTTTAAAAAGAAAAAAGAAAAAGGATGTGTATGGGGCAGAGTATAATGGTACTGTGGTAAAATCTTTACTTTTTCAAAGAGGAATTTTTTCCCCCACCCAATGTAAAGAAAGCAGGCAGAGCAGGCAGCAGGCAAATGTTAAACCCACCATGACAGTGGGATAGTAGAGTGGATGGAGAGGCTGGTGGAGCAGGTGGCACTTCCCAGGGAAGCCCAGAGGCGGGATGAGCCAACCTACCTGCAGGCCGGATCCCCATGTGTTGCTGACCATCCAACACAAAGCTCCCCATGGGCTGACCCTCTGGACTATATGCTGCTCCTTGGCTCACTGAAGGATCAAGAAGAAAACCTGATTGTGGTCATTCGAGGACACAGAGGAGAAAGAAGAAAAGATATACCAAACAATCAGCAATTGTTCCCGCTGCAGCACTGAAACGTTATAGCAACAATGTGGTTGGCACTCTACAAATGGGGGTGTGGTTTGTCTGAGTGTCTTGATGACTGAGTGAAGGTGTGTGAGTAGCTTTAAAAATGTTCTGGAAGAAAGACTTCACTGGCCAGTTTCCCAGGGGGTTCGTCCTCTGCAGCCCTTGCTTTTTTACTTATCTCTTGATTAGGGGGACGAAGGCTGGAGAAGTTAGGGGTACCCCATATACAAATATTGCAATGTACCATTTGGTTGGGATTCTCTGAGGCTGCCATCTCTGGTGGCTTAATACAAAATGTTCATATTTTACACAAACATTTTAAACCTGAATACAATTTCACAAGGTTAAATAGACTCAATTAAAAGCTTGCCTTTTTATTCACACCAAGGAAATATAAACTTAGTAAATATAATATTTCCATTGTTTTATGTTCTTCTCCCTAGCCTCCAATAGTGGGAACATATTTTGGCGTTATTGGGGAAATTTTGCCAAAGGATGACTAATTTTCACAAATCCTTTAAAGCGAGGCCACAGGTAAAATCTCCATCAAGTTTAACACCGTTGTTAGTGGCAGCAGTCATCACCCCAAGGAAAACTGTTTTTCCCTATAAGCCTTATTGCAGGAGACCACAAACCCTCAGTAAACTGAGGAAATGTCTGTTTCAAAATAAAACGACTTGGAGTATACCAGGAGGGTTCTGATAGTACCATACAAAAACTGTTTTAGAGAAATTGAGAGAATTCTGAGAAAAGCTCACATGTATTTTAGCAGCATGGATGTGAAGCATTTTATACAAAGGTAATATTCTTTAATAAAAAATAATGGTGGCAATGCAGCAAGTCAGGCTTTAATAGGATATTATGAATAGCCAAAGCAAATGAATGGATACAATAAGTTTAACAGCAGATGCTACAGAAAGGAAAGCCTAGCATACACCAAGGAGCTGTGGGTAACAGAAAAATGAGAGTGTGCTAATGATTGGATGCAGACAAGCAAGGGGTAATGCCAGAGCTCACAAACACGCTGCTTGTGGCATTAATACCTGTGCCCAATTACCAATTCAGAAAGAAAATAAAAAGCAGTGTCAGTAGAGTCAGGGTGGGAAATCTCCAATTAGCACCACTTACTGAAGTTGCTTCCTTGAGTGGGATTCTGGGGACATTAAAAAAAAAAATCCAGAATGCCTGGTGGAAGCACTTATTTATCAGATGAGGAAACTACTGGAGTATAACTTGATGAGGATTTGTGCCTGTGGGACATAAATATAGATACTACTTGGAACTTGCCTGCTCGATTTGACTGGTCAATCATGGGCTGTACTATTCTTCTTCTGGCATTAATAAACCTGAAAGAGAACAGAGAAGTCCAGTCATCATACTCCGTTTCTGTACTCTGCGAACACCTTTGCATGAATGCTGAGGAGCACAAAATACAGTCAAATCTCTTCTGAAAATTATCTTTTCAATTTAAAGGTGATTTTCCCTTTCAGCGTTCAAAAATAGTTGACTGGGTAATCTCCGTCGTCACTGCGTAGTCAACTCCAAAACAACTTGCTAGAAGAGCTCAGGGACGGAATAAAGTTCTCCATGAGAAAGCTTCTATTAACTTCAAATTGTGCTTCTGCTTCTTGCACAAGTAGGAATCTGGTTAAAGTTCACAGGCTGGAAGACTTTCCCCCTTTCCCTAGACTCCCCGTGATAGGGAGACCCAGCTTCCCCTTGCAGCTGGTCATAAATGGAGACCAGGCTCTAGCACTCGGCTTTCACAAGGTATTGTTAGGTCAGCAAAGCCATCAATTAGGCTGTCTGAAGTTTTATCACCAACACAGCAGTAATAAGTGCTGGCCAGAAAGACTTCTGCTCTTCGGCAACTCCTGCAGTTTAAGCCTGTAAAGTTAGGGGTCATTCAGAGGTCAGTGCCAGCTGGGGGCAGCCTTTCCAGCCTAAGCTGGGACACCCAGGGCAGAGGATAAGGTAACTGCCAACCATAAACCCAGCCACCTTTCAACCCACTAGAAAGACAGAGCCTCAGGTACACATGTTTGATATTAGAGCTCAAGAAACGTTTGCAAATCAGGTGGTGGCTGAATCGCAGGAATGCAAAGGAGAAGCAGTTATTTCATCTAAGAAGCCTGGATCTAATTTTGTTGGAAATCCAAAAATAAGTGCCTACTTCATGTTACTTTAATGTTTAATAATGCCCATCAAATATTCATGTACAAACAGAGTAAGATGATAAGAAATCTCCTTTATTTCTCCAAATTTAATAAAAACAAAACAATTTTCTACCATTTGTGAGTTACCCTTGTCCCTGTGCACTTAACGACGTGTATTCCCCACACATTTGAGCTCATGCACACGATTCACTGACCACGCATTTCGGAGGAGCAGGGAGCATCCAGCTAGCTTCTCCCTAAAAATATACCCATTGATAACATCTGTCAATATTTCCAGTTTCAGATCTTAAGCACAGGGGGACTTCATGATTAATGAGTCCACCTGGGGCCACAGGCAGGAACTGAAAACTCACTCTTTGAAATTAGCCAGAAAAATTCAGTGTGTGCTGGCAGCTCTGTGTTCCGAGGAAGCTGAAGTCCCTTTGGAGGAGGACAGTCAGGCCCCACTCGGTCGGGCCTCCTGTGAGCACTCTGGTGGGAATACAATTAAGCTGAGGAATAATAGCTGGGAGAAAACCAAAGGAGTCTTTTGCATATGGTGTTTGTTTGCAAAACAATGGACTTCTTTATTACTTAAGAAAGTGTAGCTCAGTTGTCAAAAAAGAAAGTGATCAGCTATGTAGAGGTGAAAACAAAAGGAGAGTTGAAACTGCATCTTTCTTCCCACCTGTCACCTGAAATGTTGCTGAGGAATGAATATCTGACTAGATCACAAAGACTTCCAGAAGCATCCCTCCTCCAATCAGAAAAAGAACTTAATTATCTACTCTTTCCCCACCACTTTTACAGCAACCAAGGAGGACTGACCTGATATTTCCACCCCAGGAACCGTTTTTATCAGCTCACCTTGAAACCAGCAGAGATGCTCAGGAGGGTCAGAGAAGGCTCTTCTCCTTGAAGTTTCTAATAGAGGACAACACTCGGCAGGGGTTTTACCCCCTTTTATGTGCTACTAATCCTGGTTTTTGTGTTTTGCGTTTTTTATTTTTATTTTTTTTTCGGTATAGGCTAACTCTTCGGGTAAAACGAATTGCTATTTTTTTCCCTTTTTAATTTCACTCTTTTATTCTTTACATCTGGAGGTTGTTCCCTTATTTATGTCTTTCTCTCCAGTTCCCCCAAACACTCCCTTACTCACAGAGCTGCAAGGCATCATGGTTCTTAGTTCTCAGCAGGAGAACTCCACACTGTCTTCAAACAAA
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GGGCAAGGAAAAATAAAATGGGGGCAAATTATAAAAAATAAAATAAAGTCTCTGAAGTGATAGTGAAGACAGATCGCACCCGACTGTACTTACTTCCCCCTTGCTTTGCGATTGCTTTACATGATGAAGGTTACATGTAGTGCCATTGCCCATCCATGCCCATATTCATGCCCATTCCACTCATAGGTCCTAGAAAGGAGATAAAATCCAAGAAGAGGCCGGAAAATCAGCAATAATTGATGGTGAAAAAATAGAAGGAAACTCAGATTCCTTTTCACTTATTGCCTTGGTTTAAAAAGAAAAAAGAAAAAGGATGTGTATGGGGCAGAGTATAATGGTACTGTGGTAAAATCTTTACTTTTTCAAAGAGGAATTTTTTCCCCCACCCAATGTAAAGAAAGCAGGCAGAGCAGGCAGCAGGCAAATGTTAAACCCACCATGACAGTGGGATAGTAGAGTGGATGGAGAGGCTGGTGGAGCAGGTGGCACTTCCCAGGGAAGCCCAGAGGCGGGATGAGCCAACCTACCTGCAGGCCGGATCCCCATGTGTTGCTGACCATCCAACACAAAGCTCCCCATGGGCTGACCCTCTGGACTATATGCTGCTCCTTGGCTCACTGAAGGATCAAGAAGAAAACCTGATTGTGGTCATTCGAGGACACAGAGGAGAAAGAAGAAAAGATATACCAAACAATCAGCAATTGTTCCCGCTGCAGCACTGAAACGTTATAGCAACAATGTGGTTGGCACTCTACAAATGGGGGTGTGGTTTGTCTGAGTGTCTTGATGACTGAGTGAAGGTGTGTGAGTAGCTTTAAAAATGTTCTGGAAGAAAGACTTCACTGGCCAGTTTCCCAGGGGGTTCGTCCTCTGCAGCCCTTGCTTTTTTACTTATCTCTTGATTAGGGGGACGAAGGCTGGAGAAGTTAGGGGTACCCCATATACAAATATTGCAATGTACCATTTGGTTGGGATTCTCTGAGGCTGCCATCTCTGGTGGCTTAATACAAAATGTTCATATTTTACACAAACATTTTAAACCTGAATACAATTTCACAAGGTTAAATAGACTCAATTAAAAGCTTGCCTTTTTATTCACACCAAGGAAATATAAACTTAGTAAATATAATATTTCCATTGTTTTATGTTCTTCTCCCTAGCCTCCAATAGTGGGAACATATTTTGGCGTTATTGGGGAAATTTTGCCAAAGGATGACTAATTTTCACAAATCCTTTAAAGCGAGGCCACAGGTAAAATCTCCATCAAGTTTAACACCGTTGTTAGTGGCAGCAGTCATCACCCCAAGGAAAACTGTTTTTCCCTATAAGCCTTATTGCAGGAGACCACAAACCCTCAGTAAACTGAGGAAATGTCTGTTTCAAAATAAAACGACTTGGAGTATACCAGGAGGGTTCTGATAGTACCATACAAAAACTGTTTTAGAGAAATTGAGAGAATTCTGAGAAAAGCTCACATGTATTTTAGCAGCATGGATGTGAAGCATTTTATACAAAGGTAATATTCTTTAATAAAAAATAATGGTGGCAATGCAGCAAGTCAGGCTTTAATAGGATATTATGAATAGCCAAAGCAAATGAATGGATACAATAAGTTTAACAGCAGATGCTACAGAAAGGAAAGCCTAGCATACACCAAGGAGCTGTGGGTAACAGAAAAATGAGAGTGTGCTAATGATTGGATGCAGACAAGCAAGGGGTAATGCCAGAGCTCACAAACACGCTGCTTGTGGCATTAATACCTGTGCCCAATTACCAATTCAGAAAGAAAATAAAAAGCAGTGTCAGTAGAGTCAGGGTGGGAAATCTCCAATTAGCACCACTTACTGAAGTTGCTTCCTTGAGTGGGATTCTGGGGACATTAAAAAAAAAAATCCAGAATGCCTGGTGGAAGCACTTATTTATCAGATGAGGAAACTACTGGAGTATAACTTGATGAGGATTTGTGCCTGTGGGACATAAATATAGATACTACTTGGAACTTGCCTGCTCGATTTGACTGGTCAATCATGGGCTGTACTATTCTTCTTTTGGCATTAATAAACCTGAAAGAGAACAGAGAAGTCCAGTCATCATACTCCGTTTCTGTACTCTGCGAACACCTTTGCATGAATGCTGAGGAGCACAAAATACAGTCAAATCTCTTCTGAAAATTATCTTTTCAATTTAAAGGTGATTTTCCCTTTCAGCGTTCAAAAATAGTTGACTGGGTAATCTCCGTCGTCACTGCGTAGTCAACTCCAAAACAACTTGCTAGAAGAGCTCAGGGACGGAATAAAGTTCTCCATGAGAAAGCTTCTATTAACTTCAAATTGTGCTTCTGCTTCTTGCACAAGTAGGAATCTGGTTAAAGTTCACAGGCTGGAAGACTTTCCCCCTTTCCCTAGACTCCCCGTGATAGGGAGACCCAGCTTCCCCTTGCAGCTGGTCATAAATGGAGACCAGGCTCTAGCACTCGGCTTTCACAAGGTATTGTTAGGTCAGCAAAGCCATCAATTAGGCTGTCTGAAGTTTTATCACCAACACAGCAGTAATAAGTGCTGGCCAGAAAGACTTCTGCTCTTCGGCAACTCCTGCAGTTTAAGCCTGTAAAGTTAGGGGTCATTCAGAGGTCAGTGCCAGCTGGGGGCAGCCTTTCCAGCCTAAGCTGGGACACCCAGGGCAGAGGATAAGGTAACTGCCAACCATAAACCCAGCCACCTTTCAACCCACTAGAAAGACAGAGCCTCAGGTACACATGTTTGATATTAGAGCTCAAGAAACGTTTGCAAATCAGGTGGTGGCTGAATCGCAGGAATGCAAAGGAGAAGCAGTTATTTCATCTAAGAAGCCTGGATCTAATTTTGTTGGAAATCCAAAAATAAGTGCCTACTTCATGTTACTTTAATGTTTAATAATGCCCATCAAATATTCATGTACAAACAGAGTAAGATGATAAGAAATCTCCTTTATTTCTCCAAATTTAATAAAAACAAAACAATTTTCTACCATTTGTGAGTTACCCTTGTCCCTGTGCACTTAACGACGTGTATTCCCCACACATTTGAGCTCATGCACACGATTCACTGACCACGCATTTCGGAGGAGCAGGGAGCATCCAGCTAGCTTCTCCCTAAAAATATACCCATTGATAACATCTGTCAATATTTCCAGTTTCAGATCTTAAGCACAGGGGGACTTCATGATTAATGAGTCCACCTGGGGCCACAGGCAGGAACTGAAAACTCACTCTTTGAAATTAGCCAGAAAAATTCAGTGTGTGCTGGCAGCTCTGTGTTCCGAGGAAGCTGAAGTCCCTTTGGAGGAGGACAGTCAGGCCCCACTCGGTCGGGCCTCCTGTGAGCACTCTGGTGGGAATACAATTAAGCTGAGGAATAATAGCTGGGAGAAAACCAAAGGAGTCTTTTGCATATGGTGTTTGTTTGCAAAACAATGGACTTCTTTATTACTTAAGAAAGTGTAGCTCAGTTGTCAAAAAAGAAAGTGATCAGCTATGTAGAGGTGAAAACAAAAGGAGAGTTGAAACTGCATCTTTCTTCCCACCTGTCACCTGAAATGTTGCTGAGGAATGAATATCTGACTAGATCACAAAGACTTCCAGAAGCATCCCTCCTCCAATCAGAAAAAGAACTTAATTATCTACTCTTTCCCCACCACTTTTACAGCAACCAAGGAGGACTGACCTGATATTTCCACCCCAGGAACCGTTTTTATCAGCTCACCTTGAAACCAGCAGAGATGCTCAGGAGGGTCAGAGAAGGCTCTTCTCCTTGAAGTTTCTAATAGAGGACAACACTCGGCAGGGGTTTTACCCCCTTTTATGTGCTACTAATCCTGGTTTTTGTGTTTTGCGTTTTTTATTTTTATTTTTTTTTCGGTATAGGCTAACTCTTCGGGTAAAACGAATTGCTATTTTTTTCCCTTTTTAATTTCACTCTTTTATTCTTTACATCTGGAGGTTGTTCCCTTATTTATGTCTTTCTCTCCAGTTCCCCCAAACACTCCCTTACTCACAGAGCTGCAAGGCATCATGGTTCTTAGTTCTCAGCAGGAGAACTCCACACTGTCTTCAAACAAA
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Task1_train_20515
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The gene SPRED1 (sprouty related EVH1 domain containing 1) on Chromosome 15 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Legius syndrome
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TTAGGCTCCAGCCCGCAACCCCAGTAGGTTTCTGTGCAAAAATCTTTTGAGATGAATGCATACTTTGTCTTCTAACAATGCATTCGTGACAGCTGTCTATCCAATCGGTCCGCCTCCGTTCAGAGCAGTTCGTGCCACAGAAGCATCTCCTGCGCTATAGTTATGCAACCTCACTCGCAGCGGGAGTTATTTCCTCCGTTCTGGCTGCGCCAGATTCATGTAACACGCCTACCCTGGGCTTCAATGGAAGTCGTTCTCCATTAACAATCACTCCAGCTTTCCGAGATGAATGCCCTGATAGCATACCCCTTGCGCAGTAAGAATCCAGGCAGCGAGGCGAGGTGTTAAAACACACATACATTCTCATATTCTCTCTCTCTCTCTCTCACACACACACACACACACACACACACACACATACACTTCGTGCATGCAGCTAGGGGACTGCAGCAGTGCAACCAGGGGGACAGCAGGAGGAGCTCTCTTTGCAGTCCCTGCTTCTAACCCCCACTAACTAAAGATGAACTCATGCCAGTTCCATTCTTTGCTCTGCAAAGAAAACACACACACACACACACACACACACACACACACACACACACACACGGCAGAAGAGAGTAGCCTCCAGATTTCCCCTCTGAGCACACTGTCTTTCTAGCCTCTTCGTTCAAGCAACCCGGATATTCCAAGCAGAGTAACGGGGAGTAACGCGCCACAACAATGCAACCTCCCTAGCAGCTCCCCTCGCAGCTCCCACCCCCGCCCCCTTTCGCGGCGTGCCAAGAGTTTGGAGCGCGCGCACGCACACCGAGCACGGTGCAGGGAGGATATCCCTCCGCCTCCCTCCCCCTTTCTCCGCTAAGTGGCTCGACAACGATTTGGGAAATGAAGGGAGGAGGGAACTACTTTCCTGAAACTTGCTATGCTGCACATGACTTCGAGTTGCAGTGATTCGCCCGGAGGCCGCGGCTTTTAGTCCTACCCACACACCCTCACAGCCTGGGCACCCCGCTCGGCAGCCCCACCCCGCGCCCGCTCTGGCCTCCGGGGAAAGCGGGCGGCCGGGAGAAGTCGCGAGGGACTACTTCGCCTCCTTCTCTCGCGGGCGCCCCCGGTTCGGGCAGCGGCTGCGGCGGCGGAAGGAGCGGGCGGCGTGAGCGCTTCCGCCGCCCCCCTCGCGGCTCCCCTCTCTCGGGCGTGAGGAGCTGGCCCGCTGAGCTGCTGGTGGGCACTGGCTGGCGGGGAACCTGCAGCCGCTCTTGTCCTCTCCCGCCGCTTCTCGGGATCCTGCCCCCCGGACCCGGGCCCGCCCGCTCTTCTCCGGCCGGGTGGGAACGATCGGTTTGCCTGCCCCTCGCCTCACACGCTCCCCGCCGCCCCCTCCACCCCCCTGAGGAGGAGTCCCGGCTGGAGCGTGTCTGGAGGAATCCGCCGCCGCGGGGCCCCTAGCCCTGCTCTGCCGGCGCCTGAGGACCGACCCAGACGCCGCCGGGGGTTGAGGGGCAGCCGGCGGCGAGGCGGGAGATGGTGGGGTGGGCTCCGGCAGGACCGCGCCGCCGCTGCCCGGAGCCTGGGCTCGGCACCCCCCCGCCGGCCCCCACCGAGCGGAGCTCTGCTTCCTCCTCGCCGCATCCCTGAGGGAAGCGCCGCCTCTGCTCCCGGGTTCTCCGCCCGCCGACTCCTTCCTGGCCGGACCCCGCTGCGCTCCACCCCAGTGGCTGGAGGAGCAGCTCTCCAGTCAGCCTTTGCAGCCCCTCTCTTTTTCCCTTTCCACCGGGCCTCCTCGGATCCCTTGGCTGGGCACTGAGGCGGGGGAAGAGGCTGGGGTCGCCACGGCGGAGGTTGCTGCCGCCACCCCCCTGCGGGGGTGGCCGGGGTTCCCGGCTGGGGGGGTACCGTTCTGGGTGAGGCATCCACCATGGTGAGGCCCCTGTGCCGCTGCCCCCGCGCCCCCCCGGCCGCCGCTGCCTCCTGCCCCTCGGTGCTGCTGTTGCTCCCCCGCCTGCTGTTGCTCCTCCATCTCCAGATCGGATCACGGTGAGGGAAAGATGAGCGAGGAGACGGCGACTTCTGACAACGAGTAAGCGCCTCATTGATCTCGATTGCTAATCCCCCTCCCCCTATCCGCCCTCGGCTCTCCCCCAGACCCATCCGAAACTTGGGTGCCGGAAAGCTTGCGACCCTGGAGAGTTCGGTGCATCTTCTGGAGATAGCTGATTTCTTTAGCCATTTTTAGTGGCAGCACCCCTCCCCATCCTCCCACATTTAGCTGCTTTCTTTTGGGGTAGGGGATTAAGTGTTGGGAGAGGATGGCAATTGTACGTCTATGAGAGGGAATAATGTGGATGGATGGAAGTGGAGTAGAAACTACCCCTTTGCCTGTGAGACCCCTGTCCCGTCCTTTTTCACTCACATACCAGTCACCATACCTTCAGTATCCATCCTACTTCCTTTATAGCTGTTTCACTTGGAAACTAATGTGTGGGAGCACCTCCTGCAGCAAACTGCTCTTGAATCTTAATTCGATGAGTCAGTGACTCTTAAATACCGATTAAGCCTTCACCCTCTCCCCCCTCCCCCTTTTAAACTTATGACCTGTAAGATTCTTGTAAAAAATAGGGTTAGGGAAACATTTTTAGAATTTAATAGGATTAAGGACACCTGGAGTGTGGGCGATGTTGAGCTAGAGTTTACCTTTGTGAATATTGGACGTGTCTTCAGGAACGGAGAAGAATTTTGAATGCTAATTTTTACCTTTCAGCTATGTGAAAACACATGATTTACGTTGATGTAACCGAATTTACATTGCTGAATATGTTGGTGATTTCATTAACTTTTAGAGCATTCCGGTTTAAGTTTTAGCTTATTTGGGCTTTCTCCTTGCTTTCCAAACGAAATACTTCGTCTTTTAAATGTTTTGCTTTAACGTGACAGCTGCGTGGAGAAATAATGGTTGGCAACACTTTTCTATTGAGAAGGGATTTAATTCCAAGCAGAATATTAGCATCCGTTTTCTTGTAATTAAGTTCAACTTTTGTTTATCTTCGGAGGGTTGGAAAGAGTTAAGTGAGTTAGGACTTAGTCATTTGGATGCATTCCTTTAAATACAGTGCATTACTAAAGTCAGACCTTTTTGAAATAACTTTTTAAAGTCTGTACCGAGTCCTGTTTAACGTAAAATAGCTAGAGAAAGGCCAAACAACATTTCCTCCTCCCTTACTCCCTCCCCACCCCAAAACACACGCTTCTGCTGAGCGGGTGTAGAAGGAGGTACATTGCTGCAGTGTCAGTGCAGTGTAGAAGCAGAAGTGGCAGCCATGTTCTGTCTCTTTTTGTGAATCGCCCTCATTTGCATAGCACACTCTTCATTCATAAAAAAAATAATTAAACATCCATCACCTTGGACATCTTGAAAGGATTTCCCAAGAAAAAAAATTCGCGGCTTATTTGTCTGTGTGTAGATTTTTGAGTTCAGAAGGTAAGAAGAATGTGAAATTTTAGGTTAAATTTAAAAACATACGCACACACAAACAACTACCCCTGTTCTGAGAATGTTGACACAGTTATGTGGGAAATATCAGTTCGGGGAGGTGCTGGGATCACGTGATCGCCTCCATTCATAAAATACCTGGCTGTCCATTCAGAGTGCAGTACAGTCTCTCCCTGCCTTCTGCAGATTAGACCTACTTTGAGGGAGATCAAGAAGTCTATCTCAGATAATGGTTATTTAGGAGAAGAACTGCTAAAAATGCTGAACCGAATGACGGTAACTTTTATTGGTATCTTTCAAAAAGTTTGGATTAAAAATGTTAAGTTTTCTTTTAGAGATGGGAAAAGACTTCTTACCAGTTTAATTTTTTTCTTAAAGCAGTGAATATCTCCTTGTTTCCTTCTGGTTGCAGCTAATAAAAAAAGCAGATGATGGAATGTGAATTAACACAAGTAAAATATATTTTTTCTAAATGGCCATTTTTTTAAATACTTGCCATAAATAAATTGAGACAACAGGTTTTTTTGTATAGTGATAGTGCGTTCCACTGCTATTACAGTAAATTGAGAAAATACTCCCAGTGATTTAATCCCCAAGATGTTGATA
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TTAGGCTCCAGCCCGCAACCCCAGTAGGTTTCTGTGCAAAAATCTTTTGAGATGAATGCATACTTTGTCTTCTAACAATGCATTCGTGACAGCTGTCTATCCAATCGGTCCGCCTCCGTTCAGAGCAGTTCGTGCCACAGAAGCATCTCCTGCGCTATAGTTATGCAACCTCACTCGCAGCGGGAGTTATTTCCTCCGTTCTGGCTGCGCCAGATTCATGTAACACGCCTACCCTGGGCTTCAATGGAAGTCGTTCTCCATTAACAATCACTCCAGCTTTCCGAGATGAATGCCCTGATAGCATACCCCTTGCGCAGTAAGAATCCAGGCAGCGAGGCGAGGTGTTAAAACACACATACATTCTCATATTCTCTCTCTCTCTCTCTCACACACACACACACACACACACACACACACATACACTTCGTGCATGCAGCTAGGGGACTGCAGCAGTGCAACCAGGGGGACAGCAGGAGGAGCTCTCTTTGCAGTCCCTGCTTCTAACCCCCACTAACTAAAGATGAACTCATGCCAGTTCCATTCTTTGCTCTGCAAAGAAAACACACACACACACACACACACACACACACACACACACACACACACGGCAGAAGAGAGTAGCCTCCAGATTTCCCCTCTGAGCACACTGTCTTTCTAGCCTCTTCGTTCAAGCAACCCGGATATTCCAAGCAGAGTAACGGGGAGTAACGCGCCACAACAATGCAACCTCCCTAGCAGCTCCCCTCGCAGCTCCCACCCCCGCCCCCTTTCGCGGCGTGCCAAGAGTTTGGAGCGCGCGCACGCACACCGAGCACGGTGCAGGGAGGATATCCCTCCGCCTCCCTCCCCCTTTCTCCGCTAAGTGGCTCGACAACGATTTGGGAAATGAAGGGAGGAGGGAACTACTTTCCTGAAACTTGCTATGCTGCACATGACTTCGAGTTGCAGTGATTCGCCCGGAGGCCGCGGCTTTTAGTCCTACCCACACACCCTCACAGCCTGGGCACCCCGCTCGGCAGCCCCACCCCGCGCCCGCTCTGGCCTCCGGGGAAAGCGGGCGGCCGGGAGAAGTCGCGAGGGACTACTTCGCCTCCTTCTCTCGCGGGCGCCCCCGGTTCGGGCAGCGGCTGCGGCGGCGGAAGGAGCGGGCGGCGTGAGCGCTTCCGCCGCCCCCCTCGCGGCTCCCCTCTCTCGGGCGTGAGGAGCTGGCCCGCTGAGCTGCTGGTGGGCACTGGCTGGCGGGGAACCTGCAGCCGCTCTTGTCCTCTCCCGCCGCTTCTCGGGATCCTGCCCCCCGGACCCGGGCCCGCCCGCTCTTCTCCGGCCGGGTGGGAACGATCGGTTTGCCTGCCCCTCGCCTCACACGCTCCCCGCCGCCCCCTCCACCCCCCTGAGGAGGAGTCCCGGCTGGAGCGTGTCTGGAGGAATCCGCCGCCGCGGGGCCCCTAGCCCTGCTCTGCCGGCGCCTGAGGACCGACCCAGACGCCGCCGGGGGTTGAGGGGCAGCCGGCGGCGAGGCGGGAGATGGTGGGGTGGGCTCCGGCAGGACCGCGCCGCCGCTGCCCGGAGCCTGGGCTCGGCACCCCCCCGCCGGCCCCCACCGAGCGGAGCTCTGCTTCCTCCTCGCCGCATCCCTGAGGGAAGCGCCGCCTCTGCTCCCGGGTTCTCCGCCCGCCGACTCCTTCCTGGCCGGACCCCGCTGCGCTCCACCCCAGTGGCTGGAGGAGCAGCTCTCCAGTCAGCCTTTGCAGCCCCTCTCTTTTTCCCTTTCCACCGGGCCTCCTCGGATCCCTTGGCTGGGCACTGAGGCGGGGGAAGAGGCTGGGGTCGCCACGGCGGAGGTTGCTGCCGCCACCCCCCTGCGGGGGTGGCCGGGGTTCCCGGCTGGGGGGGTACCGTTCTGGGTGAGGCATCCACCATGGTGAGGCCCCTGTGCCGCTGCCCCCGCGCCCCCCCGGCCGCCGCTGCCTCCTGCCCCTCGGTGCTGCTGTTGCTCCCCCGCCTGCTGTTGCTCCTCCATCTCCAGATCGGATCACGGTGAGGGAAAGGTGAGCGAGGAGACGGCGACTTCTGACAACGAGTAAGCGCCTCATTGATCTCGATTGCTAATCCCCCTCCCCCTATCCGCCCTCGGCTCTCCCCCAGACCCATCCGAAACTTGGGTGCCGGAAAGCTTGCGACCCTGGAGAGTTCGGTGCATCTTCTGGAGATAGCTGATTTCTTTAGCCATTTTTAGTGGCAGCACCCCTCCCCATCCTCCCACATTTAGCTGCTTTCTTTTGGGGTAGGGGATTAAGTGTTGGGAGAGGATGGCAATTGTACGTCTATGAGAGGGAATAATGTGGATGGATGGAAGTGGAGTAGAAACTACCCCTTTGCCTGTGAGACCCCTGTCCCGTCCTTTTTCACTCACATACCAGTCACCATACCTTCAGTATCCATCCTACTTCCTTTATAGCTGTTTCACTTGGAAACTAATGTGTGGGAGCACCTCCTGCAGCAAACTGCTCTTGAATCTTAATTCGATGAGTCAGTGACTCTTAAATACCGATTAAGCCTTCACCCTCTCCCCCCTCCCCCTTTTAAACTTATGACCTGTAAGATTCTTGTAAAAAATAGGGTTAGGGAAACATTTTTAGAATTTAATAGGATTAAGGACACCTGGAGTGTGGGCGATGTTGAGCTAGAGTTTACCTTTGTGAATATTGGACGTGTCTTCAGGAACGGAGAAGAATTTTGAATGCTAATTTTTACCTTTCAGCTATGTGAAAACACATGATTTACGTTGATGTAACCGAATTTACATTGCTGAATATGTTGGTGATTTCATTAACTTTTAGAGCATTCCGGTTTAAGTTTTAGCTTATTTGGGCTTTCTCCTTGCTTTCCAAACGAAATACTTCGTCTTTTAAATGTTTTGCTTTAACGTGACAGCTGCGTGGAGAAATAATGGTTGGCAACACTTTTCTATTGAGAAGGGATTTAATTCCAAGCAGAATATTAGCATCCGTTTTCTTGTAATTAAGTTCAACTTTTGTTTATCTTCGGAGGGTTGGAAAGAGTTAAGTGAGTTAGGACTTAGTCATTTGGATGCATTCCTTTAAATACAGTGCATTACTAAAGTCAGACCTTTTTGAAATAACTTTTTAAAGTCTGTACCGAGTCCTGTTTAACGTAAAATAGCTAGAGAAAGGCCAAACAACATTTCCTCCTCCCTTACTCCCTCCCCACCCCAAAACACACGCTTCTGCTGAGCGGGTGTAGAAGGAGGTACATTGCTGCAGTGTCAGTGCAGTGTAGAAGCAGAAGTGGCAGCCATGTTCTGTCTCTTTTTGTGAATCGCCCTCATTTGCATAGCACACTCTTCATTCATAAAAAAAATAATTAAACATCCATCACCTTGGACATCTTGAAAGGATTTCCCAAGAAAAAAAATTCGCGGCTTATTTGTCTGTGTGTAGATTTTTGAGTTCAGAAGGTAAGAAGAATGTGAAATTTTAGGTTAAATTTAAAAACATACGCACACACAAACAACTACCCCTGTTCTGAGAATGTTGACACAGTTATGTGGGAAATATCAGTTCGGGGAGGTGCTGGGATCACGTGATCGCCTCCATTCATAAAATACCTGGCTGTCCATTCAGAGTGCAGTACAGTCTCTCCCTGCCTTCTGCAGATTAGACCTACTTTGAGGGAGATCAAGAAGTCTATCTCAGATAATGGTTATTTAGGAGAAGAACTGCTAAAAATGCTGAACCGAATGACGGTAACTTTTATTGGTATCTTTCAAAAAGTTTGGATTAAAAATGTTAAGTTTTCTTTTAGAGATGGGAAAAGACTTCTTACCAGTTTAATTTTTTTCTTAAAGCAGTGAATATCTCCTTGTTTCCTTCTGGTTGCAGCTAATAAAAAAAGCAGATGATGGAATGTGAATTAACACAAGTAAAATATATTTTTTCTAAATGGCCATTTTTTTAAATACTTGCCATAAATAAATTGAGACAACAGGTTTTTTTGTATAGTGATAGTGCGTTCCACTGCTATTACAGTAAATTGAGAAAATACTCCCAGTGATTTAATCCCCAAGATGTTGATA
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Task1_train_20516
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Here’s a variant in SPRED1 (sprouty related EVH1 domain containing 1) located on Chromosome 15. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Legius syndrome
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AGGCTCCAGCCCGCAACCCCAGTAGGTTTCTGTGCAAAAATCTTTTGAGATGAATGCATACTTTGTCTTCTAACAATGCATTCGTGACAGCTGTCTATCCAATCGGTCCGCCTCCGTTCAGAGCAGTTCGTGCCACAGAAGCATCTCCTGCGCTATAGTTATGCAACCTCACTCGCAGCGGGAGTTATTTCCTCCGTTCTGGCTGCGCCAGATTCATGTAACACGCCTACCCTGGGCTTCAATGGAAGTCGTTCTCCATTAACAATCACTCCAGCTTTCCGAGATGAATGCCCTGATAGCATACCCCTTGCGCAGTAAGAATCCAGGCAGCGAGGCGAGGTGTTAAAACACACATACATTCTCATATTCTCTCTCTCTCTCTCTCACACACACACACACACACACACACACACACATACACTTCGTGCATGCAGCTAGGGGACTGCAGCAGTGCAACCAGGGGGACAGCAGGAGGAGCTCTCTTTGCAGTCCCTGCTTCTAACCCCCACTAACTAAAGATGAACTCATGCCAGTTCCATTCTTTGCTCTGCAAAGAAAACACACACACACACACACACACACACACACACACACACACACACACGGCAGAAGAGAGTAGCCTCCAGATTTCCCCTCTGAGCACACTGTCTTTCTAGCCTCTTCGTTCAAGCAACCCGGATATTCCAAGCAGAGTAACGGGGAGTAACGCGCCACAACAATGCAACCTCCCTAGCAGCTCCCCTCGCAGCTCCCACCCCCGCCCCCTTTCGCGGCGTGCCAAGAGTTTGGAGCGCGCGCACGCACACCGAGCACGGTGCAGGGAGGATATCCCTCCGCCTCCCTCCCCCTTTCTCCGCTAAGTGGCTCGACAACGATTTGGGAAATGAAGGGAGGAGGGAACTACTTTCCTGAAACTTGCTATGCTGCACATGACTTCGAGTTGCAGTGATTCGCCCGGAGGCCGCGGCTTTTAGTCCTACCCACACACCCTCACAGCCTGGGCACCCCGCTCGGCAGCCCCACCCCGCGCCCGCTCTGGCCTCCGGGGAAAGCGGGCGGCCGGGAGAAGTCGCGAGGGACTACTTCGCCTCCTTCTCTCGCGGGCGCCCCCGGTTCGGGCAGCGGCTGCGGCGGCGGAAGGAGCGGGCGGCGTGAGCGCTTCCGCCGCCCCCCTCGCGGCTCCCCTCTCTCGGGCGTGAGGAGCTGGCCCGCTGAGCTGCTGGTGGGCACTGGCTGGCGGGGAACCTGCAGCCGCTCTTGTCCTCTCCCGCCGCTTCTCGGGATCCTGCCCCCCGGACCCGGGCCCGCCCGCTCTTCTCCGGCCGGGTGGGAACGATCGGTTTGCCTGCCCCTCGCCTCACACGCTCCCCGCCGCCCCCTCCACCCCCCTGAGGAGGAGTCCCGGCTGGAGCGTGTCTGGAGGAATCCGCCGCCGCGGGGCCCCTAGCCCTGCTCTGCCGGCGCCTGAGGACCGACCCAGACGCCGCCGGGGGTTGAGGGGCAGCCGGCGGCGAGGCGGGAGATGGTGGGGTGGGCTCCGGCAGGACCGCGCCGCCGCTGCCCGGAGCCTGGGCTCGGCACCCCCCCGCCGGCCCCCACCGAGCGGAGCTCTGCTTCCTCCTCGCCGCATCCCTGAGGGAAGCGCCGCCTCTGCTCCCGGGTTCTCCGCCCGCCGACTCCTTCCTGGCCGGACCCCGCTGCGCTCCACCCCAGTGGCTGGAGGAGCAGCTCTCCAGTCAGCCTTTGCAGCCCCTCTCTTTTTCCCTTTCCACCGGGCCTCCTCGGATCCCTTGGCTGGGCACTGAGGCGGGGGAAGAGGCTGGGGTCGCCACGGCGGAGGTTGCTGCCGCCACCCCCCTGCGGGGGTGGCCGGGGTTCCCGGCTGGGGGGGTACCGTTCTGGGTGAGGCATCCACCATGGTGAGGCCCCTGTGCCGCTGCCCCCGCGCCCCCCCGGCCGCCGCTGCCTCCTGCCCCTCGGTGCTGCTGTTGCTCCCCCGCCTGCTGTTGCTCCTCCATCTCCAGATCGGATCACGGTGAGGGAAAGATGAGCGAGGAGACGGCGACTTCTGACAACGAGTAAGCGCCTCATTGATCTCGATTGCTAATCCCCCTCCCCCTATCCGCCCTCGGCTCTCCCCCAGACCCATCCGAAACTTGGGTGCCGGAAAGCTTGCGACCCTGGAGAGTTCGGTGCATCTTCTGGAGATAGCTGATTTCTTTAGCCATTTTTAGTGGCAGCACCCCTCCCCATCCTCCCACATTTAGCTGCTTTCTTTTGGGGTAGGGGATTAAGTGTTGGGAGAGGATGGCAATTGTACGTCTATGAGAGGGAATAATGTGGATGGATGGAAGTGGAGTAGAAACTACCCCTTTGCCTGTGAGACCCCTGTCCCGTCCTTTTTCACTCACATACCAGTCACCATACCTTCAGTATCCATCCTACTTCCTTTATAGCTGTTTCACTTGGAAACTAATGTGTGGGAGCACCTCCTGCAGCAAACTGCTCTTGAATCTTAATTCGATGAGTCAGTGACTCTTAAATACCGATTAAGCCTTCACCCTCTCCCCCCTCCCCCTTTTAAACTTATGACCTGTAAGATTCTTGTAAAAAATAGGGTTAGGGAAACATTTTTAGAATTTAATAGGATTAAGGACACCTGGAGTGTGGGCGATGTTGAGCTAGAGTTTACCTTTGTGAATATTGGACGTGTCTTCAGGAACGGAGAAGAATTTTGAATGCTAATTTTTACCTTTCAGCTATGTGAAAACACATGATTTACGTTGATGTAACCGAATTTACATTGCTGAATATGTTGGTGATTTCATTAACTTTTAGAGCATTCCGGTTTAAGTTTTAGCTTATTTGGGCTTTCTCCTTGCTTTCCAAACGAAATACTTCGTCTTTTAAATGTTTTGCTTTAACGTGACAGCTGCGTGGAGAAATAATGGTTGGCAACACTTTTCTATTGAGAAGGGATTTAATTCCAAGCAGAATATTAGCATCCGTTTTCTTGTAATTAAGTTCAACTTTTGTTTATCTTCGGAGGGTTGGAAAGAGTTAAGTGAGTTAGGACTTAGTCATTTGGATGCATTCCTTTAAATACAGTGCATTACTAAAGTCAGACCTTTTTGAAATAACTTTTTAAAGTCTGTACCGAGTCCTGTTTAACGTAAAATAGCTAGAGAAAGGCCAAACAACATTTCCTCCTCCCTTACTCCCTCCCCACCCCAAAACACACGCTTCTGCTGAGCGGGTGTAGAAGGAGGTACATTGCTGCAGTGTCAGTGCAGTGTAGAAGCAGAAGTGGCAGCCATGTTCTGTCTCTTTTTGTGAATCGCCCTCATTTGCATAGCACACTCTTCATTCATAAAAAAAATAATTAAACATCCATCACCTTGGACATCTTGAAAGGATTTCCCAAGAAAAAAAATTCGCGGCTTATTTGTCTGTGTGTAGATTTTTGAGTTCAGAAGGTAAGAAGAATGTGAAATTTTAGGTTAAATTTAAAAACATACGCACACACAAACAACTACCCCTGTTCTGAGAATGTTGACACAGTTATGTGGGAAATATCAGTTCGGGGAGGTGCTGGGATCACGTGATCGCCTCCATTCATAAAATACCTGGCTGTCCATTCAGAGTGCAGTACAGTCTCTCCCTGCCTTCTGCAGATTAGACCTACTTTGAGGGAGATCAAGAAGTCTATCTCAGATAATGGTTATTTAGGAGAAGAACTGCTAAAAATGCTGAACCGAATGACGGTAACTTTTATTGGTATCTTTCAAAAAGTTTGGATTAAAAATGTTAAGTTTTCTTTTAGAGATGGGAAAAGACTTCTTACCAGTTTAATTTTTTTCTTAAAGCAGTGAATATCTCCTTGTTTCCTTCTGGTTGCAGCTAATAAAAAAAGCAGATGATGGAATGTGAATTAACACAAGTAAAATATATTTTTTCTAAATGGCCATTTTTTTAAATACTTGCCATAAATAAATTGAGACAACAGGTTTTTTTGTATAGTGATAGTGCGTTCCACTGCTATTACAGTAAATTGAGAAAATACTCCCAGTGATTTAATCCCCAAGATGTTGATATT
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AGGCTCCAGCCCGCAACCCCAGTAGGTTTCTGTGCAAAAATCTTTTGAGATGAATGCATACTTTGTCTTCTAACAATGCATTCGTGACAGCTGTCTATCCAATCGGTCCGCCTCCGTTCAGAGCAGTTCGTGCCACAGAAGCATCTCCTGCGCTATAGTTATGCAACCTCACTCGCAGCGGGAGTTATTTCCTCCGTTCTGGCTGCGCCAGATTCATGTAACACGCCTACCCTGGGCTTCAATGGAAGTCGTTCTCCATTAACAATCACTCCAGCTTTCCGAGATGAATGCCCTGATAGCATACCCCTTGCGCAGTAAGAATCCAGGCAGCGAGGCGAGGTGTTAAAACACACATACATTCTCATATTCTCTCTCTCTCTCTCTCACACACACACACACACACACACACACACACATACACTTCGTGCATGCAGCTAGGGGACTGCAGCAGTGCAACCAGGGGGACAGCAGGAGGAGCTCTCTTTGCAGTCCCTGCTTCTAACCCCCACTAACTAAAGATGAACTCATGCCAGTTCCATTCTTTGCTCTGCAAAGAAAACACACACACACACACACACACACACACACACACACACACACACACGGCAGAAGAGAGTAGCCTCCAGATTTCCCCTCTGAGCACACTGTCTTTCTAGCCTCTTCGTTCAAGCAACCCGGATATTCCAAGCAGAGTAACGGGGAGTAACGCGCCACAACAATGCAACCTCCCTAGCAGCTCCCCTCGCAGCTCCCACCCCCGCCCCCTTTCGCGGCGTGCCAAGAGTTTGGAGCGCGCGCACGCACACCGAGCACGGTGCAGGGAGGATATCCCTCCGCCTCCCTCCCCCTTTCTCCGCTAAGTGGCTCGACAACGATTTGGGAAATGAAGGGAGGAGGGAACTACTTTCCTGAAACTTGCTATGCTGCACATGACTTCGAGTTGCAGTGATTCGCCCGGAGGCCGCGGCTTTTAGTCCTACCCACACACCCTCACAGCCTGGGCACCCCGCTCGGCAGCCCCACCCCGCGCCCGCTCTGGCCTCCGGGGAAAGCGGGCGGCCGGGAGAAGTCGCGAGGGACTACTTCGCCTCCTTCTCTCGCGGGCGCCCCCGGTTCGGGCAGCGGCTGCGGCGGCGGAAGGAGCGGGCGGCGTGAGCGCTTCCGCCGCCCCCCTCGCGGCTCCCCTCTCTCGGGCGTGAGGAGCTGGCCCGCTGAGCTGCTGGTGGGCACTGGCTGGCGGGGAACCTGCAGCCGCTCTTGTCCTCTCCCGCCGCTTCTCGGGATCCTGCCCCCCGGACCCGGGCCCGCCCGCTCTTCTCCGGCCGGGTGGGAACGATCGGTTTGCCTGCCCCTCGCCTCACACGCTCCCCGCCGCCCCCTCCACCCCCCTGAGGAGGAGTCCCGGCTGGAGCGTGTCTGGAGGAATCCGCCGCCGCGGGGCCCCTAGCCCTGCTCTGCCGGCGCCTGAGGACCGACCCAGACGCCGCCGGGGGTTGAGGGGCAGCCGGCGGCGAGGCGGGAGATGGTGGGGTGGGCTCCGGCAGGACCGCGCCGCCGCTGCCCGGAGCCTGGGCTCGGCACCCCCCCGCCGGCCCCCACCGAGCGGAGCTCTGCTTCCTCCTCGCCGCATCCCTGAGGGAAGCGCCGCCTCTGCTCCCGGGTTCTCCGCCCGCCGACTCCTTCCTGGCCGGACCCCGCTGCGCTCCACCCCAGTGGCTGGAGGAGCAGCTCTCCAGTCAGCCTTTGCAGCCCCTCTCTTTTTCCCTTTCCACCGGGCCTCCTCGGATCCCTTGGCTGGGCACTGAGGCGGGGGAAGAGGCTGGGGTCGCCACGGCGGAGGTTGCTGCCGCCACCCCCCTGCGGGGGTGGCCGGGGTTCCCGGCTGGGGGGGTACCGTTCTGGGTGAGGCATCCACCATGGTGAGGCCCCTGTGCCGCTGCCCCCGCGCCCCCCCGGCCGCCGCTGCCTCCTGCCCCTCGGTGCTGCTGTTGCTCCCCCGCCTGCTGTTGCTCCTCCATCTCCAGATCGGATCACGGTGAGGGAAAGATAAGCGAGGAGACGGCGACTTCTGACAACGAGTAAGCGCCTCATTGATCTCGATTGCTAATCCCCCTCCCCCTATCCGCCCTCGGCTCTCCCCCAGACCCATCCGAAACTTGGGTGCCGGAAAGCTTGCGACCCTGGAGAGTTCGGTGCATCTTCTGGAGATAGCTGATTTCTTTAGCCATTTTTAGTGGCAGCACCCCTCCCCATCCTCCCACATTTAGCTGCTTTCTTTTGGGGTAGGGGATTAAGTGTTGGGAGAGGATGGCAATTGTACGTCTATGAGAGGGAATAATGTGGATGGATGGAAGTGGAGTAGAAACTACCCCTTTGCCTGTGAGACCCCTGTCCCGTCCTTTTTCACTCACATACCAGTCACCATACCTTCAGTATCCATCCTACTTCCTTTATAGCTGTTTCACTTGGAAACTAATGTGTGGGAGCACCTCCTGCAGCAAACTGCTCTTGAATCTTAATTCGATGAGTCAGTGACTCTTAAATACCGATTAAGCCTTCACCCTCTCCCCCCTCCCCCTTTTAAACTTATGACCTGTAAGATTCTTGTAAAAAATAGGGTTAGGGAAACATTTTTAGAATTTAATAGGATTAAGGACACCTGGAGTGTGGGCGATGTTGAGCTAGAGTTTACCTTTGTGAATATTGGACGTGTCTTCAGGAACGGAGAAGAATTTTGAATGCTAATTTTTACCTTTCAGCTATGTGAAAACACATGATTTACGTTGATGTAACCGAATTTACATTGCTGAATATGTTGGTGATTTCATTAACTTTTAGAGCATTCCGGTTTAAGTTTTAGCTTATTTGGGCTTTCTCCTTGCTTTCCAAACGAAATACTTCGTCTTTTAAATGTTTTGCTTTAACGTGACAGCTGCGTGGAGAAATAATGGTTGGCAACACTTTTCTATTGAGAAGGGATTTAATTCCAAGCAGAATATTAGCATCCGTTTTCTTGTAATTAAGTTCAACTTTTGTTTATCTTCGGAGGGTTGGAAAGAGTTAAGTGAGTTAGGACTTAGTCATTTGGATGCATTCCTTTAAATACAGTGCATTACTAAAGTCAGACCTTTTTGAAATAACTTTTTAAAGTCTGTACCGAGTCCTGTTTAACGTAAAATAGCTAGAGAAAGGCCAAACAACATTTCCTCCTCCCTTACTCCCTCCCCACCCCAAAACACACGCTTCTGCTGAGCGGGTGTAGAAGGAGGTACATTGCTGCAGTGTCAGTGCAGTGTAGAAGCAGAAGTGGCAGCCATGTTCTGTCTCTTTTTGTGAATCGCCCTCATTTGCATAGCACACTCTTCATTCATAAAAAAAATAATTAAACATCCATCACCTTGGACATCTTGAAAGGATTTCCCAAGAAAAAAAATTCGCGGCTTATTTGTCTGTGTGTAGATTTTTGAGTTCAGAAGGTAAGAAGAATGTGAAATTTTAGGTTAAATTTAAAAACATACGCACACACAAACAACTACCCCTGTTCTGAGAATGTTGACACAGTTATGTGGGAAATATCAGTTCGGGGAGGTGCTGGGATCACGTGATCGCCTCCATTCATAAAATACCTGGCTGTCCATTCAGAGTGCAGTACAGTCTCTCCCTGCCTTCTGCAGATTAGACCTACTTTGAGGGAGATCAAGAAGTCTATCTCAGATAATGGTTATTTAGGAGAAGAACTGCTAAAAATGCTGAACCGAATGACGGTAACTTTTATTGGTATCTTTCAAAAAGTTTGGATTAAAAATGTTAAGTTTTCTTTTAGAGATGGGAAAAGACTTCTTACCAGTTTAATTTTTTTCTTAAAGCAGTGAATATCTCCTTGTTTCCTTCTGGTTGCAGCTAATAAAAAAAGCAGATGATGGAATGTGAATTAACACAAGTAAAATATATTTTTTCTAAATGGCCATTTTTTTAAATACTTGCCATAAATAAATTGAGACAACAGGTTTTTTTGTATAGTGATAGTGCGTTCCACTGCTATTACAGTAAATTGAGAAAATACTCCCAGTGATTTAATCCCCAAGATGTTGATATT
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Task1_train_20517
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Consider this mutation in SPRED1 (sprouty related EVH1 domain containing 1) on Chromosome 15. Is this a benign change or a disease-causing variant?
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Pathogenic; Legius syndrome
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GCTCCAGCCCATCTCAGGAGAATTTAATATCTACATCAACCCAACCTTCATGCACCCGCACTTCCTCTGACTGTTTCTCTGAGTTGAAGATTGGCAAGAATTGGGTCCAGATAAGAATCAGAGCCTCTGAATAACTAAATAATAAAAAGCTTCCACAAAAGAGTAAATTATGAAGCCAAACCCTTTCAGAGTTTCTATATAAAGAATTATTTTGACCCCAATAATAGATAATTATGGTTGAACATGAAAATTCAATTATTTCCCAGATCCTGATTTTGAATTACCAGGATGGTAGTGTCTTCGGTTTTCAATGCTTTGTTGTCATAATGATAATAAAAAGTAATACTCATATAGTGCTTGTTATGTGTCAGGCATGGTTTACATTTATTATAAGTGAGTGCTGTTATTTCACACGTAAGTTTGAGGCACAGAGGTTTAGTAACTTTCTCAAAGCCATACAGATAGTAAGTTTCTAAGCCAAGATCCAACTTGTGGAAATTTGACTCTAGAATTCTCACTCTTAACCACAACCCAGTGCAACTTTAAAAGTATATTCTCTAAAAAATACTTATGTCCAGAATATATTTTAAAAAACACTTCTAAAAATCATAATAAAGACAATATAATAAAAAATGGTCACAGACTTAAAAACAAGATAAACAAATGGCCAAAAAGCACATGAAAAGATGCTCAACATCATGAGTCATTATGGAAATAGAAATTTAAAACGCTGTGGGATACCACTATATACTCAATACAATGAGTAAAGTTAAGACTGAAAACACCAAGTATTGGCAAGGATGTGGTGCATCTGAAACTGTCATACATTATTGATGGGAATGTGTAACAGTACAACCACTTTGGAAGATAATGTCTTGTATAGTTAAACATGTACCTATCCTGTGACCCGTTAATTCCACTCCTAGGTAATTATTTGAGAAATGAAAAAATGTCTACAAAAAAGACATGTACAAGAATGTTTATAACAGCTTTATTCATAATTGCCAACAACTAGAAAAATCCAAATGCCTGTCCATGTAAGAAAGAATAAATTATGATAGATTTATTCAATTAGAGGACTACTTAGTTAAAAAAAATTAACTTCTGGTACACAAAACAACATGAGAGAAAGAAGTCAGACAAAAAGAGTACAAATGGTAATTCTGTTTGATTCCATTTATTTGAAGGCCCCAAACAGGCAAAATCTCTGTGTTCGGCATAAGGATTTTTGAAGTGATGAAAATGGCCTGTATTTTGATTATCATGTTGATTATACATGTGTCTTATTCTCTTTGGACTACTATAGAAAAATATAAACTGGTTAGCTAATAACAGAAATTTATTTCTTACAGTTTCTACAGACCAATTTGCTTGTTAAGTAATCTAAGCATAACACTTTTCTTTATATGATTTGTGTAAGTGATTCAGATTCCCAGTTGGTAGAATAAATTAAAAATGTAGCTAAACTAAGCATGTTTGTTTCAGCATTTGATTTATAATATTCTGGAACTGTTAGGGACTTCTAGATGCTGCAGTTTAATGTGCTGAAATACAGCAGTTTGTCCTGGTTATAATATTGTAGCAAATGGACATATATAGACAAGTTTTATGGTACCCTGTGTAGTTTGACAGTATTTGCCTCTGGGATCCTTCACAACTTGTTCCGTGGCAATCAGATGTGCTGGAACTACTGAAATGATGAATTGAGGTAGTAGTTTTGTAGTCTTTTATTACAAGAGTAGTCTTTAAAATAAAGGACAACCTTAAAGTCTGTTTTTGGTTTTTGACCTCTTTCAAGTAGGCTACTTTCTGTAGATTTTCATGGAAGTAGTAAACACCTTAGTCACCACATGTTAACTAATGTGTTCTTTGGTTTCTCAAACAAGACTGATGGCTTGGCTGTTTTTTGTTTATGGAAAAGCTAATTCCTGATCTTTGCATCTATTTTAGTAATAGTTATGCACGAGTGCGAGCTGTGGTGATGACCCGAGATGACTCAAGTGGTGGATGGTTACCACTTGGAGGGAGTGGACTAAGCAGCGTCACTGTCTTCAAAGTCCCTCATCAGGAAGAGAATGGCTGTGCTGACTTTTTTATCCGTGGAGAGCGACTCAGGGACAAAATGGTAATGAATAATGTATCTAATACTATAATTTTAGATAATGAATTATCTGTTTAAAGTTATGATTAGTATACTGTTGTGAGTTTTTTTCACCTGTGAATCAGTAATTATGTTTCTGGAGCTGTTTCTGTGTTAAAGGCAGTGAAATACAACATTTTTTTTTCAAACTGAGACTGACATTGATACACATTTGTTGGGGGATGGGGTTGCTGCTTTTCCATTTACGCTTAATGCAGGAGTTAATAAATAGTCCCCCTAGTTATTCAACCGGTAACATCCTGCCTTCCCTTCTCTCAGCTATTCCCTAGACCAGAGATTGGCAAACTAATCCACAGGCCAAATGCAAGCCCACCAATTGTTTTTATATTGTCTGTGAGCTAATAATGGTTTTTATAGTTTTACATGGTTGGAAAAAATTAAAAATAATAATTTTGTGTAACATAAGAATTATATGAAATTCCCATTTCAGTATCCACAAATTAAGTTTTATTCGAACATAGCCAAGGTGATTCCCTTATTAATTCCCTTATTTTCTAGTCTCATAAGACTATCTGGTGGCCAGCCTAATTTTTAACACTATTGTCTTCCATGCAGATGTGTGGTTTCTTACCTGTATACATTTTAAAATTTCAGTTTAACCTTTGATAATGTTATTTGCTCTTTTTTAATTAGTATGGAAAGCTCCTTCACTTTCTTTGTTTCATTTGTGGGCCAAAAACAACTGATTACATCCGAAAAGCTGAGTAATGTTAGTGTCATTTCTGTATCAAGAAAAAGAAGAGCATACACTTAGACGCAAAATAAAAATAAAGTCCCAAAATAGAGCCTTGAAAATAACGAGAATTCCCTTTAAATATATATTTGTGGATCTGTTTATTTAGCATCTTTGTTATTTCTTATGTTTTGAGCTCCAAATAATTCTTCCATGCATGAACAGTTTGAATATGACTTACTTTCAGTTTGGGGGCTTGGTTTCTTCATATTTTTTTTACATCTGAATCATTGTAGTAATTCAGAAAGTTGCTTAACTTTCACTGCCCCAATTTCTTCCCCACTTAAAGGGAGAGTTATCCTAAATCATCTCGAAAGCCTTCCTACACTAATGTTTTATGAGTTTATGATTCACCCATGCTACACATTGTATAATGTGTCTCAGCCAAAATATGTTTAAGTAGAGAACCCCGATTGAAGTCAAAAGTGAAATATGATAAATATGTCATCTTTAAAAAGTTTAAATTTTTAAAGGTGGTCTGGCCTTGGATAAAATGGGATCTGCCATATACTAATGCTTTTTTAAGCCTGGAGACATCTAAGAAGGCGCCTATGATGGTATAATGCTTCTGGTCTGAGCTAATGGTAACTGGGGAATATTGTTGGAGAAATTGTCTATTTTAGAAACCGAGTAAAATGGTGAAAATCTAAGGCATTTTTTTCTAGATAAACTTTTTCCTAAGAATACAAAGGTAGTAGAAAGTAAAATGTGGATTAAGAGAGAAAAATGCTTGCTCGAAAAATTATAAGAACAAGGAAAGGATGATCTAGATGTGAAATAGAAAAAACTCAGTGAAACAGAATATTGGATATAGTAGAGATGGACAGTTTAGGATAATAAGGGACCAAATCTGCATAACTAATTATGAGTCTGCACAGATTGATGGATTGGGTGATTGTTCAGAGTGTGGCTTTAACATAAATAAAGCTAGTAAAAATAAACCTGAGATTCAGAAAGAACAGAAACTTTTATTCCCTATGACAGCTTAAAAATCAAGAGCACTTACCCTAGTCCTAGGGTATAGAATATTGATAGACTAATAAGAAAATAGATTATTTTGCTAGAAGTAACAGGAATCAGAACACCTGATGTTTCACGTAGCCATTTTTCTTTGAGGAAGCTTGTTACTTGTGAAACGGGGATAAGAAACATCTCTCAGTATTGCCATAAAGGAGAGCTTTCAGTCAGAAATTTGCCATATT
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GCTCCAGCCCATCTCAGGAGAATTTAATATCTACATCAACCCAACCTTCATGCACCCGCACTTCCTCTGACTGTTTCTCTGAGTTGAAGATTGGCAAGAATTGGGTCCAGATAAGAATCAGAGCCTCTGAATAACTAAATAATAAAAAGCTTCCACAAAAGAGTAAATTATGAAGCCAAACCCTTTCAGAGTTTCTATATAAAGAATTATTTTGACCCCAATAATAGATAATTATGGTTGAACATGAAAATTCAATTATTTCCCAGATCCTGATTTTGAATTACCAGGATGGTAGTGTCTTCGGTTTTCAATGCTTTGTTGTCATAATGATAATAAAAAGTAATACTCATATAGTGCTTGTTATGTGTCAGGCATGGTTTACATTTATTATAAGTGAGTGCTGTTATTTCACACGTAAGTTTGAGGCACAGAGGTTTAGTAACTTTCTCAAAGCCATACAGATAGTAAGTTTCTAAGCCAAGATCCAACTTGTGGAAATTTGACTCTAGAATTCTCACTCTTAACCACAACCCAGTGCAACTTTAAAAGTATATTCTCTAAAAAATACTTATGTCCAGAATATATTTTAAAAAACACTTCTAAAAATCATAATAAAGACAATATAATAAAAAATGGTCACAGACTTAAAAACAAGATAAACAAATGGCCAAAAAGCACATGAAAAGATGCTCAACATCATGAGTCATTATGGAAATAGAAATTTAAAACGCTGTGGGATACCACTATATACTCAATACAATGAGTAAAGTTAAGACTGAAAACACCAAGTATTGGCAAGGATGTGGTGCATCTGAAACTGTCATACATTATTGATGGGAATGTGTAACAGTACAACCACTTTGGAAGATAATGTCTTGTATAGTTAAACATGTACCTATCCTGTGACCCGTTAATTCCACTCCTAGGTAATTATTTGAGAAATGAAAAAATGTCTACAAAAAAGACATGTACAAGAATGTTTATAACAGCTTTATTCATAATTGCCAACAACTAGAAAAATCCAAATGCCTGTCCATGTAAGAAAGAATAAATTATGATAGATTTATTCAATTAGAGGACTACTTAGTTAAAAAAAATTAACTTCTGGTACACAAAACAACATGAGAGAAAGAAGTCAGACAAAAAGAGTACAAATGGTAATTCTGTTTGATTCCATTTATTTGAAGGCCCCAAACAGGCAAAATCTCTGTGTTCGGCATAAGGATTTTTGAAGTGATGAAAATGGCCTGTATTTTGATTATCATGTTGATTATACATGTGTCTTATTCTCTTTGGACTACTATAGAAAAATATAAACTGGTTAGCTAATAACAGAAATTTATTTCTTACAGTTTCTACAGACCAATTTGCTTGTTAAGTAATCTAAGCATAACACTTTTCTTTATATGATTTGTGTAAGTGATTCAGATTCCCAGTTGGTAGAATAAATTAAAAATGTAGCTAAACTAAGCATGTTTGTTTCAGCATTTGATTTATAATATTCTGGAACTGTTAGGGACTTCTAGATGCTGCAGTTTAATGTGCTGAAATACAGCAGTTTGTCCTGGTTATAATATTGTAGCAAATGGACATATATAGACAAGTTTTATGGTACCCTGTGTAGTTTGACAGTATTTGCCTCTGGGATCCTTCACAACTTGTTCCGTGGCAATCAGATGTGCTGGAACTACTGAAATGATGAATTGAGGTAGTAGTTTTGTAGTCTTTTATTACAAGAGTAGTCTTTAAAATAAAGGACAACCTTAAAGTCTGTTTTTGGTTTTTGACCTCTTTCAAGTAGGCTACTTTCTGTAGATTTTCATGGAAGTAGTAAACACCTTAGTCACCACATGTTAACTAATGTGTTCTTTGGTTTCTCAAACAAGACTGATGGCTTGGCTGTTTTTTGTTTATGGAAAAGCTAATTCCTGATCTTTGCATCTATTTTAGTAATAGTTATGCACGAGTGCGAGCTGTGGTGATGACCCGAGATGACTCAAGTGGTGGATGGTTACCACTTGGAGGGAGTGGACTAAGCAGCGTCACTGACTTCAAAGTCCCTCATCAGGAAGAGAATGGCTGTGCTGACTTTTTTATCCGTGGAGAGCGACTCAGGGACAAAATGGTAATGAATAATGTATCTAATACTATAATTTTAGATAATGAATTATCTGTTTAAAGTTATGATTAGTATACTGTTGTGAGTTTTTTTCACCTGTGAATCAGTAATTATGTTTCTGGAGCTGTTTCTGTGTTAAAGGCAGTGAAATACAACATTTTTTTTTCAAACTGAGACTGACATTGATACACATTTGTTGGGGGATGGGGTTGCTGCTTTTCCATTTACGCTTAATGCAGGAGTTAATAAATAGTCCCCCTAGTTATTCAACCGGTAACATCCTGCCTTCCCTTCTCTCAGCTATTCCCTAGACCAGAGATTGGCAAACTAATCCACAGGCCAAATGCAAGCCCACCAATTGTTTTTATATTGTCTGTGAGCTAATAATGGTTTTTATAGTTTTACATGGTTGGAAAAAATTAAAAATAATAATTTTGTGTAACATAAGAATTATATGAAATTCCCATTTCAGTATCCACAAATTAAGTTTTATTCGAACATAGCCAAGGTGATTCCCTTATTAATTCCCTTATTTTCTAGTCTCATAAGACTATCTGGTGGCCAGCCTAATTTTTAACACTATTGTCTTCCATGCAGATGTGTGGTTTCTTACCTGTATACATTTTAAAATTTCAGTTTAACCTTTGATAATGTTATTTGCTCTTTTTTAATTAGTATGGAAAGCTCCTTCACTTTCTTTGTTTCATTTGTGGGCCAAAAACAACTGATTACATCCGAAAAGCTGAGTAATGTTAGTGTCATTTCTGTATCAAGAAAAAGAAGAGCATACACTTAGACGCAAAATAAAAATAAAGTCCCAAAATAGAGCCTTGAAAATAACGAGAATTCCCTTTAAATATATATTTGTGGATCTGTTTATTTAGCATCTTTGTTATTTCTTATGTTTTGAGCTCCAAATAATTCTTCCATGCATGAACAGTTTGAATATGACTTACTTTCAGTTTGGGGGCTTGGTTTCTTCATATTTTTTTTACATCTGAATCATTGTAGTAATTCAGAAAGTTGCTTAACTTTCACTGCCCCAATTTCTTCCCCACTTAAAGGGAGAGTTATCCTAAATCATCTCGAAAGCCTTCCTACACTAATGTTTTATGAGTTTATGATTCACCCATGCTACACATTGTATAATGTGTCTCAGCCAAAATATGTTTAAGTAGAGAACCCCGATTGAAGTCAAAAGTGAAATATGATAAATATGTCATCTTTAAAAAGTTTAAATTTTTAAAGGTGGTCTGGCCTTGGATAAAATGGGATCTGCCATATACTAATGCTTTTTTAAGCCTGGAGACATCTAAGAAGGCGCCTATGATGGTATAATGCTTCTGGTCTGAGCTAATGGTAACTGGGGAATATTGTTGGAGAAATTGTCTATTTTAGAAACCGAGTAAAATGGTGAAAATCTAAGGCATTTTTTTCTAGATAAACTTTTTCCTAAGAATACAAAGGTAGTAGAAAGTAAAATGTGGATTAAGAGAGAAAAATGCTTGCTCGAAAAATTATAAGAACAAGGAAAGGATGATCTAGATGTGAAATAGAAAAAACTCAGTGAAACAGAATATTGGATATAGTAGAGATGGACAGTTTAGGATAATAAGGGACCAAATCTGCATAACTAATTATGAGTCTGCACAGATTGATGGATTGGGTGATTGTTCAGAGTGTGGCTTTAACATAAATAAAGCTAGTAAAAATAAACCTGAGATTCAGAAAGAACAGAAACTTTTATTCCCTATGACAGCTTAAAAATCAAGAGCACTTACCCTAGTCCTAGGGTATAGAATATTGATAGACTAATAAGAAAATAGATTATTTTGCTAGAAGTAACAGGAATCAGAACACCTGATGTTTCACGTAGCCATTTTTCTTTGAGGAAGCTTGTTACTTGTGAAACGGGGATAAGAAACATCTCTCAGTATTGCCATAAAGGAGAGCTTTCAGTCAGAAATTTGCCATATT
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Task1_train_20518
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A variant on Chromosome 15 in gene RASGRP1 (RAS guanyl releasing protein 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Immunodeficiency 64
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AGAAGTCACAACCCAAATAAAATAGCTGCAAATTAACTGAGCCCCATTTTACTGTGCTATATGGCTGCTGATGGGTGGAAAACCTATGAGTAGGACCAAAATCGCTCCTTAAGAGAGATATATAAAGCAAACATCTTACTGGTTCTAAAAGAAAGTAGCCACAACTCATTGCATATATTTTGAATATATTCATTCAATTAATATATTCCAGTGAATACATTTAATACCCCCCTCCCACTATAAATATAACTTTAAATCCACTTGTTTTTTTAAAACAATTATCCCAGTAACATCCTCACTACCCCTAAAGTTTTGTAATAAACAGAAGATATCAAATGCCTTTCAATTCACAGCACAGATAAATTTCCCTCCAACCTCATGTTGGAGAGAAAACTTGTGTTTGGTAAAACTGTTTAGCACTGTACAGGAAAAACAAAAAAACCCTGAGATAGTCTTCTATGAAGGGACCAAGCCACTCAAAAGAAATGAAGGTTGAAACTGATGTTTTCACTTGCAAATAGAACACTGTTCAACCCCTGGGGACACTGGCTGGGATTCCTCGTTCTGCACTGATTTTTCACTTCTGCCTCCACTGATGTGAGCATTGGCATCAAGCAGACATCCTGCAGGCCTGACCAAGCAGCCTGCCAGTTTGACCCCTGCAGAGCTCAGATTTCCTGTGTGATAAATGGCTTTTTTCAGTGGCTCAGCTCTGACTGCTGTCCTTCCCTGTGACGGGGAGGCACTGCCAAATGGGAACTCCTGAGGCAGAGCTTTTCAATTTGGGTCTGGGGTACTGAGGGGTGCAGAGAATGGAGAGTTAATGCTTGGAGAAGTTATTTCCAAATGGAAGCTGGGAGCTTCCTGGCTGAGTGACCAAACAGCTGCGTGAAAACAGAAGGGCTGTCAATATTATGAATGAAAATGTAAAATAACCTTTGTAACCTGATTTGCAGGTCTCCTTCCAGACACAACTGAGCTCAACAAATTGGTGCTGAGTGACTGAGAGAGGCATGTAGTCCTAGCCCCAGCTTTGACTGTAATCAGCTGTGTCGACCTTGTTCAAGTCAGCCCTCTGGGCCTCCATCCCCTCACCAGGAGAATACTGGTCATTTTAATAAATGGACCCAGCAACTAGGTGGTCACTATTTTTAGCACGGAGGTGAAGACTGTATCTGTTGGTAGGGGTAGGGGCTAAGTGGAATAAGGGTTTCATTTCTCAGGAAAGCACATTAGCCAGTGAGGGTCTGTTGGCATCTGACATGTTGACAAGTTCTCTTGCATAGAACTAATATTCTTTGGGATCACATATGGATTGCAGTGAGGAAAGGATGAACCTGTACTCTTTCTGTACCTGATGATCAACTGAAATCTCTCTCCCTTTGACTCTGCTTAGTTGCCCCAGTTGAAAGGTTTTGGGTCAGCACAGCTTATCTCTAGAATCACAGTGACTTCTGGGCCAGGACCACTTCAAGGATTTAGGTATGTTCTGGGCTAGGGCAGTAGAATCTATTTTGGGATTTCCCAGAGCCATTCAAAGCTTACCCCAGAATGAATTCAAACTCTGAGAGGACATATCCTCTCCCCGCCCCCGCACCCCCCCCCCTTTTTTTTTTTGAGGAAGATTTTAAAAAGAGTTGTTGAAGCCTAATGATTATCAGGGGTATGAGGATTATCAGGGGTATGAGGGTAGAATGAGAGAGACAGAGAGAGAGAGAGAGAGAGAGAGTGTGTGTGTGTGTGTGTGATGTGTGCCCACAGTATGGTAACTTGAGTGAGTGGTGGGATGGTATGGGGCGGGGGCATGGAAGAAGAGAGATGGGAGAAGCACAGGAGTCACAATCAAAGGAATTCAGATGGTACTGATTTTTTCAGACTCTATGATGTCTGGCAGGAAAGCCTGCCACGACTTGAGGGGGCCTCTAAGGTTATGAAGCGGATGGGCTGTTGAATTATCATCTTATTTTCAGAAATATCCCAGGGAAGATTTTTCTCCTGCCCCTTGCATACATACCGATATCCTCCGGAAAGACTTGAACTCAAGGTAGGTGAGGTGCTCGGATAGCTCTTCTGGTTCCAGATGGTCAAAGAGCAGGGAGACTTTCCGTTTCTTGCTGGTATTTGATTTTATCCTTTGAGTAAGTTTCCTGGACCAGTCACGGGCATTGCTTTTGTGGGTAAATGTGAAAGGGAGAAGACAGGGAAAAGGAATAAATCGCTTTTTGCAAGTAAATCCATTAACATTTCTCACAAGAATATACAAAACACCATTAGCTAACTTTCCTTGTGAATGCCAAAACAGTGCATTCACAGAGTTTCTCCAAATCAGTTTTTTTCCATGGCAGCCTCCAGGAGGTCTTGCTGGTTTTCAGTGAGCCTTTTAAGTGTGCAGTTGGGTACAGGATAAATGAGTTTACTTTAAGGCAGTGGGAAGGAAGGAGTCTCAGGTATCGGTCAGTTTCCTTGCCTTTGGTCCTGGCTCCTTTGTGTATCATCTGGTATGTCTGCTCCCTCCATTCTGCTTGTGTGTTCCTTCATTCTTGTGTGAATGATAGGGACTCTCTATCTGGTTGGAAATCCCAAGGCAGTGAAACAGTTTTCATGCCAGAAAGAGAGCTCAAAGAACCACAGCAAGATGTCATAAAGGGAGGGAATCACGCGTAGAAACATATGGTCACTCTTGGCAGAGTTGTGTCATTTTCCTCAAATGTCCTCAGCTACTGAAATGACCAAGGAAGCCTAGCTGACCCTAGAGTGCGCCCTGCCCCCATTATTTTCTTGTAATCAACCCATGCATTTCTTATTCAGTTTCCTTCACTAAACAAGCAAAGGGAAGCGGCCCCATTTTGAAAGACAGCAGGTTGCCTGTCTTCCAAACTGGTATTCCTGGGAACCTTGTCTCTTGATAAAAGGGTTCTGTGGTCAATGAGCTTGGGAAGTGCTATAAATTCTGTAGCCTCTTTGGCCAGTGAGCATATTACACACTCTGAAAAGCACTGCAAAAGGAAAGTTTAACTCATTATTCCTCAGTTATATCTGGCCAAGTAATATCCCACAGACTAATAATTCCTACAGAATATAATGTGGAAAATTTTGGTCAAGAAAAGTCAGCTAGGAAATACTGGGACAAGGAGAGCTGGGGTTGAGAATTGCCCTGGGCTCTAATTTCATCTTTAAAATGAAGAAACTATTACTTTGAATAATCTCTTATCTTTCAAGTTGTGTAATTTTAAGCAGAGAAGTACAGAGAATCCAAACTGATAAACAGACTTATTTGGGGCTCTGGAATGTAATCTTGAAATCATTTCTACGTGGCTACAGTGCATCATGGACAGGACCTCAGAGGCTAGCTGCTGCTCTGTCACTAGCTTAACTAGCTGGACCCTAGATGAGTCACATTCTTGCTGAGCCTCAATTTCCCAGTCAGAAAAATCAGGATGTTGGATGAAATGATCTCTAGAATATATATCAGTTCTAGAATTCTATTTCTTAGGGATTTGTACTATTTCAAAATAAAGCAGCCACACTGTGAAAACCCTGGCATACAAAGCATACATTCCCCTCCCCCTAATTAGGAAAGGCACTCATTTTCCCAGAATGGGTCAGTCTTATAAATAAGAATTCCAAGGAATAATTTAAAACATTCCTGGAATCCCATCCAGCTCTGGAAGTCTAAGTGTCTTTCATAGACATCCATATATGTTATAAGCCTTCTCCTGAATACATTTTTTAGTCCTGTCCCATTTACAAGTTCAGGTGTGCCTCCTGGCATTAAGCGTGGGTTCAGTCATTTGCACTTTCAGTTTTTCATTATCTGGATTAATTTTAGTCAATATCTTGCTACCTGATTTCTTTTTGACTGGGACTTACTTTTTCTGCTCCTGGATATGTCACCTACTGCTTTATCACCATGAGGCCTCTCTGCTTTTCTGTTAAATGCCAAGCCTTCACTTTGGTGAGGCAGTTTGAACCTGTGTATTTGAGGGGCTTCTCAGAGTGGAGAAAGAGAGCAGCAGTCACCGCTGGGGGTCAGAAGCCCAACAAGCAACTGGGATTATATTACAGGAGGGAGGTGGTTTCGAAAGATGAGTCAAGA
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AGAAGTCACAACCCAAATAAAATAGCTGCAAATTAACTGAGCCCCATTTTACTGTGCTATATGGCTGCTGATGGGTGGAAAACCTATGAGTAGGACCAAAATCGCTCCTTAAGAGAGATATATAAAGCAAACATCTTACTGGTTCTAAAAGAAAGTAGCCACAACTCATTGCATATATTTTGAATATATTCATTCAATTAATATATTCCAGTGAATACATTTAATACCCCCCTCCCACTATAAATATAACTTTAAATCCACTTGTTTTTTTAAAACAATTATCCCAGTAACATCCTCACTACCCCTAAAGTTTTGTAATAAACAGAAGATATCAAATGCCTTTCAATTCACAGCACAGATAAATTTCCCTCCAACCTCATGTTGGAGAGAAAACTTGTGTTTGGTAAAACTGTTTAGCACTGTACAGGAAAAACAAAAAAACCCTGAGATAGTCTTCTATGAAGGGACCAAGCCACTCAAAAGAAATGAAGGTTGAAACTGATGTTTTCACTTGCAAATAGAACACTGTTCAACCCCTGGGGACACTGGCTGGGATTCCTCGTTCTGCACTGATTTTTCACTTCTGCCTCCACTGATGTGAGCATTGGCATCAAGCAGACATCCTGCAGGCCTGACCAAGCAGCCTGCCAGTTTGACCCCTGCAGAGCTCAGATTTCCTGTGTGATAAATGGCTTTTTTCAGTGGCTCAGCTCTGACTGCTGTCCTTCCCTGTGACGGGGAGGCACTGCCAAATGGGAACTCCTGAGGCAGAGCTTTTCAATTTGGGTCTGGGGTACTGAGGGGTGCAGAGAATGGAGAGTTAATGCTTGGAGAAGTTATTTCCAAATGGAAGCTGGGAGCTTCCTGGCTGAGTGACCAAACAGCTGCGTGAAAACAGAAGGGCTGTCAATATTATGAATGAAAATGTAAAATAACCTTTGTAACCTGATTTGCAGGTCTCCTTCCAGACACAACTGAGCTCAACAAATTGGTGCTGAGTGACTGAGAGAGGCATGTAGTCCTAGCCCCAGCTTTGACTGTAATCAGCTGTGTCGACCTTGTTCAAGTCAGCCCTCTGGGCCTCCATCCCCTCACCAGGAGAATACTGGTCATTTTAATAAATGGACCCAGCAACTAGGTGGTCACTATTTTTAGCACGGAGGTGAAGACTGTATCTGTTGGTAGGGGTAGGGGCTAAGTGGAATAAGGGTTTCATTTCTCAGGAAAGCACATTAGCCAGTGAGGGTCTGTTGGCATCTGACATGTTGACAAGTTCTCTTGCATAGAACTAATATTCTTTGGGATCACATATGGATTGCAGTGAGGAAAGGATGAACCTGTACTCTTTCTGTACCTGATGATCAACTGAAATCTCTCTCCCTTTGACTCTGCTTAGTTGCCCCAGTTGAAAGGTTTTGGGTCAGCACAGCTTATCTCTAGAATCACAGTGACTTCTGGGCCAGGACCACTTCAAGGATTTAGGTATGTTCTGGGCTAGGGCAGTAGAATCTATTTTGGGATTTCCCAGAGCCATTCAAAGCTTACCCCAGAATGAATTCAAACTCTGAGAGGACATATCCTCTCCCCGCCCCCGCACCCCCCCCCCTTTTTTTTTTTGAGGAAGATTTTAAAAAGAGTTGTTGAAGCCTAATGATTATCAGGGGTATGAGGATTATCAGGGGTATGAGGGTAGAATGAGAGAGACAGAGAGAGAGAGAGAGAGAGAGAGTGTGTGTGTGTGTGTGTGATGTGTGCCCACAGTATGGTAACTTGAGTGAGTGGTGGGATGGTATGGGGCGGGGGCATGGAAGAAGAGAGATGGGAGAAGCACAGGAGTCACAATCAAAGGAATTCAGATGGTACTGATTTTTTCAGACTCTATGATGTCTGGCAGGAAAGCCTGCCACGACTTGAGGGGGCCTCTAAGGTTATGAAGCGGATGGGCTGTTGAATTATCATCTTATTTTCAGAAATATCCCAGGGAAGATTTTTCTCCTGCCCCTTGCATACATACCGATATCCTCCGGAAAGACTTGAACTCAAGGTAGATGAGGTGCTCGGATAGCTCTTCTGGTTCCAGATGGTCAAAGAGCAGGGAGACTTTCCGTTTCTTGCTGGTATTTGATTTTATCCTTTGAGTAAGTTTCCTGGACCAGTCACGGGCATTGCTTTTGTGGGTAAATGTGAAAGGGAGAAGACAGGGAAAAGGAATAAATCGCTTTTTGCAAGTAAATCCATTAACATTTCTCACAAGAATATACAAAACACCATTAGCTAACTTTCCTTGTGAATGCCAAAACAGTGCATTCACAGAGTTTCTCCAAATCAGTTTTTTTCCATGGCAGCCTCCAGGAGGTCTTGCTGGTTTTCAGTGAGCCTTTTAAGTGTGCAGTTGGGTACAGGATAAATGAGTTTACTTTAAGGCAGTGGGAAGGAAGGAGTCTCAGGTATCGGTCAGTTTCCTTGCCTTTGGTCCTGGCTCCTTTGTGTATCATCTGGTATGTCTGCTCCCTCCATTCTGCTTGTGTGTTCCTTCATTCTTGTGTGAATGATAGGGACTCTCTATCTGGTTGGAAATCCCAAGGCAGTGAAACAGTTTTCATGCCAGAAAGAGAGCTCAAAGAACCACAGCAAGATGTCATAAAGGGAGGGAATCACGCGTAGAAACATATGGTCACTCTTGGCAGAGTTGTGTCATTTTCCTCAAATGTCCTCAGCTACTGAAATGACCAAGGAAGCCTAGCTGACCCTAGAGTGCGCCCTGCCCCCATTATTTTCTTGTAATCAACCCATGCATTTCTTATTCAGTTTCCTTCACTAAACAAGCAAAGGGAAGCGGCCCCATTTTGAAAGACAGCAGGTTGCCTGTCTTCCAAACTGGTATTCCTGGGAACCTTGTCTCTTGATAAAAGGGTTCTGTGGTCAATGAGCTTGGGAAGTGCTATAAATTCTGTAGCCTCTTTGGCCAGTGAGCATATTACACACTCTGAAAAGCACTGCAAAAGGAAAGTTTAACTCATTATTCCTCAGTTATATCTGGCCAAGTAATATCCCACAGACTAATAATTCCTACAGAATATAATGTGGAAAATTTTGGTCAAGAAAAGTCAGCTAGGAAATACTGGGACAAGGAGAGCTGGGGTTGAGAATTGCCCTGGGCTCTAATTTCATCTTTAAAATGAAGAAACTATTACTTTGAATAATCTCTTATCTTTCAAGTTGTGTAATTTTAAGCAGAGAAGTACAGAGAATCCAAACTGATAAACAGACTTATTTGGGGCTCTGGAATGTAATCTTGAAATCATTTCTACGTGGCTACAGTGCATCATGGACAGGACCTCAGAGGCTAGCTGCTGCTCTGTCACTAGCTTAACTAGCTGGACCCTAGATGAGTCACATTCTTGCTGAGCCTCAATTTCCCAGTCAGAAAAATCAGGATGTTGGATGAAATGATCTCTAGAATATATATCAGTTCTAGAATTCTATTTCTTAGGGATTTGTACTATTTCAAAATAAAGCAGCCACACTGTGAAAACCCTGGCATACAAAGCATACATTCCCCTCCCCCTAATTAGGAAAGGCACTCATTTTCCCAGAATGGGTCAGTCTTATAAATAAGAATTCCAAGGAATAATTTAAAACATTCCTGGAATCCCATCCAGCTCTGGAAGTCTAAGTGTCTTTCATAGACATCCATATATGTTATAAGCCTTCTCCTGAATACATTTTTTAGTCCTGTCCCATTTACAAGTTCAGGTGTGCCTCCTGGCATTAAGCGTGGGTTCAGTCATTTGCACTTTCAGTTTTTCATTATCTGGATTAATTTTAGTCAATATCTTGCTACCTGATTTCTTTTTGACTGGGACTTACTTTTTCTGCTCCTGGATATGTCACCTACTGCTTTATCACCATGAGGCCTCTCTGCTTTTCTGTTAAATGCCAAGCCTTCACTTTGGTGAGGCAGTTTGAACCTGTGTATTTGAGGGGCTTCTCAGAGTGGAGAAAGAGAGCAGCAGTCACCGCTGGGGGTCAGAAGCCCAACAAGCAACTGGGATTATATTACAGGAGGGAGGTGGTTTCGAAAGATGAGTCAAGA
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Task1_train_20519
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A variant affecting Chromosome 15, within the gene EIF2AK4 (eukaryotic translation initiation factor 2 alpha kinase 4), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Familial pulmonary capillary hemangiomatosis
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AGTCTAGGAGTTCGAGGCTGCCATGAGTGATGATCGCAACACTGCTTTCCAGCTTGGGTGACAGAGCAAAACCTTATCTCAAAAAAAAAAATTAAAATTAAAAAAAAAGGCCAGCTTAAATCAGTTACAGTTTAACTACTTAGACTTTAACTTAGACTTTAGCTTGCATTGAAATCATTTGGAGCTCTTGTTAAAGCACAGATCACTGTCCAAACCTCCAGAGATGCTGATTTACTAGGTCAGGGGTATAGTAGAATTTGTATTTCTAACATTTTTTAGGGGATACTGATGCTACTGGCCAGGGACCCCACTTTGAGAAGCCCTGGGTTAAAGGTATGGCTTGTTTTTCTTCATTAAAAAACAAAACAAGAATTGTCTATTACACCATTAAACAGTAAGTTAATGGGTTCAAGGAATGAAGATTAAAAGAAAGTATATGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGACAGGCAGATTGTTTGAGCTCAGGAGTTGGAGACCAGCCTGGGCAGTGTGGTGAAACCCTATCTCTACAAAAAATATAAAAATTAGCCAGGCCTGGTGGTGCCTGCCTGTAGTCCCAGCTACTGAGATGGGAGGATTGCTTGAGCCCGGGAGGCAGAAGTTGGAATGAGCTGAGATCACACCACTGCACTGCAGCCTGGGCGATACGGCAAGACCCTATTTCAAAAAAAAAAAAAAAGCATAAACCAATTTTTAAAAAAAGTATGCAATAGAATATGGGACTTTAAAAAAGCCTTCCCTAAATGTTTCCAACTTGCTTCATCCTGTAATGAGCAGGCTTCATCTAAAGCTCGTCATACTGAGCCACTCTGCTGCACCAACTCTCTGATTTGCTTTGTCTTTCGAAAGCTTTATTTATAACCGGTTCCTGCAAAGGCTTAGTTTGGCATGACAAGGCATTAAACTGTTCATCGAGGTGAAAATTTATAGCCTACTTGTGCTACCTTAGACTTTTAAAAAATTGTTCCATGAGGGTAAGTCTTCTCATCTAGAGATGCCTTTTTTTGATTCGCCTCTTGTACCCAGCCTGTCGCATAGCATGTAAATCCTGCAGGAATGTTTATTAATTTAAATTCACCTATGAGAGTACATTCTGGTCTTTGAGTAACATGAATTCTATAATGTGTATCTTTAAAAAATAAACCCATAGTTAATGCCTTGGATTAACTAGTTTAGCACTGATTGTTTGTGATGCTAAGATTCTTCCTTCCCTCTCACCGAGATGTGTGTGCTTGGATGACAAGGAAAGATGGAGTCCCCAGCAGTTGTTGAAACACAGCTTTATAAATCCCCAGCCAAAAATGCCTCTAGTGGAACAAAGTCCTGAAGGTGAGTCTGTTACCTTTCTTTATTTGGTAACCTGTTTGACATTAAATTATTTTGAAAGTATACATAAACCAAAAACTGGAAGGGGCTGCATGTGTTATTTTATGTCTTTTATTCTGAACTAAATCCATTAGTTTGATGTGTGCCATGTGCATGGGACTGTTTTGCCACCCTGATTTTTCTAGTCTCTATTGATGGAATGAATGTCCATTGCTGTAGTCTCTTGTAGTGTTTAGTCACCCATAGTGCCATGTAACTAGATTTTTCCTGCTGCACCTGAGATTAAGGAACCTCGGTAGAGATTGGGATGGATCATGAGACCTGAGTTTTGGTTCTAGCTCTATAGTTAAGTCACTTATTCTATATAATCCCCCACCTGTAAACTTGGGCTAATTATATATTTCTGCCTACTTTAAGGAGGGCAAGGTGAGGAAAAGTTTTAAAAGGCCACTCAGGTAAGAGGTAATTTTTCAAACTACTGGTTGGAGCTCTTCTTCCAGGGCTTCCATCATTGTTGGCTATGTAGCTCTTCCTAAATTTCCAATGCCTCATGTGCCTCTTACTCCCTGTTTTATCTCAGATTCTGAAGGACAAGATTATGTTGAGACTGTTATTCCTAGCAACCGGCTACCCAGTGCTGCCTTCTTTAGTGAGACACAGAGACAGTTTTCCCGATACTTCATTGAGTTTGAAGAATTACAACTTCTTGGTAAAGGAGCTTTTGGAGCTGTCATCAAGGTGTGGTACAGAGTCATTCCCAGTCCCCTTTAGAGCTCCTTCTCTGTTCCATTTCCACAAAGACTCATGGACTTTACTTTTATTTTGGGAGTGGGGAGGGAAGTGAATATGGCTGTTGGATACTATGCTCATCCTCACCTTCCTGGAGTTAAAGGTTTTATTTAAGTTACGCTGGACACAGTTGAGAATTGTCCCACTCCTCTTTCCTTGCTTCATGTGGAGCATTAACATGAAACACACATGGTTATAACAGCACTTCAAGTGGAATCAAGACCTCCACAGAAAGAACATTTTTGTGTGCTTTGGTTCAGAAAGAACATTGTTCTTTTTTTCTCCTGTTTGCTGTTAGAGTTGCTGTAGATAAAAAGGTTCTAAGGTTAGAAGAGAGATGGACTTCAAACTGGGAGATGGCCCCAGCAGGTCTCGATGGCTTTTATTTTCCAGCTATTATTGGGACAGGAAAGTAGCGATGTATTATTAAGGTACACTGTTGTTGGGTCTTCCTTTCTTCGTTCTAGTCTATTTGGGTGACTTTTATTATTATCTGCCCCTTGTAGAAAGAGGTTTCAGCTGTTTTTATATAATAGAAGTATTTCTTTGTAAATTAGGAGACCCAGATTATTGTATTAAGTCCATATACAGTACATGTCATCTTTCACATATGAAGGTAACCCACCATCAACTGAGTATATTGTCTGTTAAGGATTCTGAGAGTATCATTAGGAAGCATTACTGTTACTGTAGAAAAACTTTTACACTAAAAAAGGAATTAAATTAGTTTTCCTGTGGTAAAAGACAGACAAGCAAGACAGATGTCCTGATCAGAAAGATCATAATTATGTCTAAGAGGAGGGGATGATTGAAGCGTATACTGTCCCTTTAACACAATATCATTTTGATCAAATCCTTTAACTTCATTCTATTTTAAATTCTTGAACGTAGAATAGTAACAAATTTCATCTCTTTACAAGTACTTAATAATGATAGGCAAGCTCATATAACAAAAACATCTGAGTAACTTAAGCCCCCACGGTTTCCAGTAGTTTCTCCCTGTGAGAATCCACAGCCCTCACCTCCTACCTCTGTGCTTCTGTGTCAGAGTAGGGCAGCCTGCCCAGTGATCTGGCATTCATTAGCAGTTGGACCCATTACTGTTTCTGCACCTTTTCACTTCAGTAAATGAATTCCTAGGGGTTTCCAGTATAGCAAGCTTTACTCCCAACCCAGTTCGTATATGATGTGTACTGAGACAGGAGATCGAAAGGCAATGCCAAGATCCCCACCTCCCGCCCTACACTGTCCTCTTCCCTATTAATGTGGCAGTAAAAGAACACAGGGCTATCATTTTTTGGAGCACCTGCCATATTTCAGATTGTGTGCCAGGTGATTTACAAACCTTGTCTTTAAATCTCAGGACATTCTTACGAGATGGGTATGATCCTCATTCCCTAGATGAGGGAACTGAAGCTCAGAGAAGGTTATGTCCTTTGCCTGAGATAAGGGAGATAAAACCAGCATTCAGACCCACCTCTGTTGTACTACAAAGTGTGTGTTCTTGTCACTATTTCCATACAAAAAAAGATAATCTGAAACTCAATTTTGTAGTACTTCCTTCTTATTCCCAGGACTTCACTTAGACTTTTATTAGTTTAATTGAAACTTGTGAGCCAAACAAGAGAATGATATTCTGTTTTGTGTTTTGTAATCAACTAATTTCTCCTGCCACCCATGGCCACATGGCATTTGCTTTTCTAGAGTATATCATCACCTCAGTTGACCTGCACGGATGTGACTACAAGGTTTCAGTGAATAAGACTCTGTAAAAGTTACTTCAGTCACCCCAATTACATAGTGAAACTGCCTGGCATAAGGATGCCTCTATGTAGGATGGGAGGACTTGCCTTTGCAACGTTTTCTTGCTTTCTTATTATTTTACTGTGTTGTTAATTGTATTGTTCTGGTTTCAGTATACATCATCTTAGG
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AGTCTAGGAGTTCGAGGCTGCCATGAGTGATGATCGCAACACTGCTTTCCAGCTTGGGTGACAGAGCAAAACCTTATCTCAAAAAAAAAAATTAAAATTAAAAAAAAAGGCCAGCTTAAATCAGTTACAGTTTAACTACTTAGACTTTAACTTAGACTTTAGCTTGCATTGAAATCATTTGGAGCTCTTGTTAAAGCACAGATCACTGTCCAAACCTCCAGAGATGCTGATTTACTAGGTCAGGGGTATAGTAGAATTTGTATTTCTAACATTTTTTAGGGGATACTGATGCTACTGGCCAGGGACCCCACTTTGAGAAGCCCTGGGTTAAAGGTATGGCTTGTTTTTCTTCATTAAAAAACAAAACAAGAATTGTCTATTACACCATTAAACAGTAAGTTAATGGGTTCAAGGAATGAAGATTAAAAGAAAGTATATGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGACAGGCAGATTGTTTGAGCTCAGGAGTTGGAGACCAGCCTGGGCAGTGTGGTGAAACCCTATCTCTACAAAAAATATAAAAATTAGCCAGGCCTGGTGGTGCCTGCCTGTAGTCCCAGCTACTGAGATGGGAGGATTGCTTGAGCCCGGGAGGCAGAAGTTGGAATGAGCTGAGATCACACCACTGCACTGCAGCCTGGGCGATACGGCAAGACCCTATTTCAAAAAAAAAAAAAAAGCATAAACCAATTTTTAAAAAAAGTATGCAATAGAATATGGGACTTTAAAAAAGCCTTCCCTAAATGTTTCCAACTTGCTTCATCCTGTAATGAGCAGGCTTCATCTAAAGCTCGTCATACTGAGCCACTCTGCTGCACCAACTCTCTGATTTGCTTTGTCTTTCGAAAGCTTTATTTATAACCGGTTCCTGCAAAGGCTTAGTTTGGCATGACAAGGCATTAAACTGTTCATCGAGGTGAAAATTTATAGCCTACTTGTGCTACCTTAGACTTTTAAAAAATTGTTCCATGAGGGTAAGTCTTCTCATCTAGAGATGCCTTTTTTTGATTCGCCTCTTGTACCCAGCCTGTCGCATAGCATGTAAATCCTGCAGGAATGTTTATTAATTTAAATTCACCTATGAGAGTACATTCTGGTCTTTGAGTAACATGAATTCTATAATGTGTATCTTTAAAAAATAAACCCATAGTTAATGCCTTGGATTAACTAGTTTAGCACTGATTGTTTGTGATGCTAAGATTCTTCCTTCCCTCTCACCGAGATGTGTGTGCTTGGATGACAAGGAAAGATGGAGTCCCCAGCAGTTGTTGAAACACAGCTTTATAAATCCCCAGCCAAAAATGCCTCTAGTGGAACAAAGTCCTGAAGGTGAGTCTGTTACCTTTCTTTATTTGGTAACCTGTTTGACATTAAATTATTTTGAAAGTATACATAAACCAAAAACTGGAAGGGGCTGCATGTGTTATTTTATGTCTTTTATTCTGAACTAAATCCATTAGTTTGATGTGTGCCATGTGCATGGGACTGTTTTGCCACCCTGATTTTTCTAGTCTCTATTGATGGAATGAATGTCCATTGCTGTAGTCTCTTGTAGTGTTTAGTCACCCATAGTGCCATGTAACTAGATTTTTCCTGCTGCACCTGAGATTAAGGAACCTCGGTAGAGATTGGGATGGATCATGAGACCTGAGTTTTGGTTCTAGCTCTATAGTTAAGTCACTTATTCTATATAATCCCCCACCTGTAAACTTGGGCTAATTATATATTTCTGCCTACTTTAAGGAGGGCAAGGTGAGGAAAAGTTTTAAAAGGCCACTCAGGTAAGAGGTAATTTTTCAAACTACTGGTTGGAGCTCTTCTTCCAGGGCTTCCATCATTGTTGGCTATGTAGCTCTTCCTAAATTTCCAATGCCTCATGTGCCTCTTACTCCCTGTTTTATCTCAGATTCTGAAGGACAAGATTATGTTGAGACTGTTATTCCTAGCAACCGGCTACCCAGTGCTGCCTTCTTTAGTGAGACACAGAGACAGTTTTCCCAATACTTCATTGAGTTTGAAGAATTACAACTTCTTGGTAAAGGAGCTTTTGGAGCTGTCATCAAGGTGTGGTACAGAGTCATTCCCAGTCCCCTTTAGAGCTCCTTCTCTGTTCCATTTCCACAAAGACTCATGGACTTTACTTTTATTTTGGGAGTGGGGAGGGAAGTGAATATGGCTGTTGGATACTATGCTCATCCTCACCTTCCTGGAGTTAAAGGTTTTATTTAAGTTACGCTGGACACAGTTGAGAATTGTCCCACTCCTCTTTCCTTGCTTCATGTGGAGCATTAACATGAAACACACATGGTTATAACAGCACTTCAAGTGGAATCAAGACCTCCACAGAAAGAACATTTTTGTGTGCTTTGGTTCAGAAAGAACATTGTTCTTTTTTTCTCCTGTTTGCTGTTAGAGTTGCTGTAGATAAAAAGGTTCTAAGGTTAGAAGAGAGATGGACTTCAAACTGGGAGATGGCCCCAGCAGGTCTCGATGGCTTTTATTTTCCAGCTATTATTGGGACAGGAAAGTAGCGATGTATTATTAAGGTACACTGTTGTTGGGTCTTCCTTTCTTCGTTCTAGTCTATTTGGGTGACTTTTATTATTATCTGCCCCTTGTAGAAAGAGGTTTCAGCTGTTTTTATATAATAGAAGTATTTCTTTGTAAATTAGGAGACCCAGATTATTGTATTAAGTCCATATACAGTACATGTCATCTTTCACATATGAAGGTAACCCACCATCAACTGAGTATATTGTCTGTTAAGGATTCTGAGAGTATCATTAGGAAGCATTACTGTTACTGTAGAAAAACTTTTACACTAAAAAAGGAATTAAATTAGTTTTCCTGTGGTAAAAGACAGACAAGCAAGACAGATGTCCTGATCAGAAAGATCATAATTATGTCTAAGAGGAGGGGATGATTGAAGCGTATACTGTCCCTTTAACACAATATCATTTTGATCAAATCCTTTAACTTCATTCTATTTTAAATTCTTGAACGTAGAATAGTAACAAATTTCATCTCTTTACAAGTACTTAATAATGATAGGCAAGCTCATATAACAAAAACATCTGAGTAACTTAAGCCCCCACGGTTTCCAGTAGTTTCTCCCTGTGAGAATCCACAGCCCTCACCTCCTACCTCTGTGCTTCTGTGTCAGAGTAGGGCAGCCTGCCCAGTGATCTGGCATTCATTAGCAGTTGGACCCATTACTGTTTCTGCACCTTTTCACTTCAGTAAATGAATTCCTAGGGGTTTCCAGTATAGCAAGCTTTACTCCCAACCCAGTTCGTATATGATGTGTACTGAGACAGGAGATCGAAAGGCAATGCCAAGATCCCCACCTCCCGCCCTACACTGTCCTCTTCCCTATTAATGTGGCAGTAAAAGAACACAGGGCTATCATTTTTTGGAGCACCTGCCATATTTCAGATTGTGTGCCAGGTGATTTACAAACCTTGTCTTTAAATCTCAGGACATTCTTACGAGATGGGTATGATCCTCATTCCCTAGATGAGGGAACTGAAGCTCAGAGAAGGTTATGTCCTTTGCCTGAGATAAGGGAGATAAAACCAGCATTCAGACCCACCTCTGTTGTACTACAAAGTGTGTGTTCTTGTCACTATTTCCATACAAAAAAAGATAATCTGAAACTCAATTTTGTAGTACTTCCTTCTTATTCCCAGGACTTCACTTAGACTTTTATTAGTTTAATTGAAACTTGTGAGCCAAACAAGAGAATGATATTCTGTTTTGTGTTTTGTAATCAACTAATTTCTCCTGCCACCCATGGCCACATGGCATTTGCTTTTCTAGAGTATATCATCACCTCAGTTGACCTGCACGGATGTGACTACAAGGTTTCAGTGAATAAGACTCTGTAAAAGTTACTTCAGTCACCCCAATTACATAGTGAAACTGCCTGGCATAAGGATGCCTCTATGTAGGATGGGAGGACTTGCCTTTGCAACGTTTTCTTGCTTTCTTATTATTTTACTGTGTTGTTAATTGTATTGTTCTGGTTTCAGTATACATCATCTTAGG
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Task1_train_20520
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A variant has been detected on Chromosome 15 in EIF2AK4 (eukaryotic translation initiation factor 2 alpha kinase 4). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Familial pulmonary capillary hemangiomatosis
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AGCATTACTGTTACTGTAGAAAAACTTTTACACTAAAAAAGGAATTAAATTAGTTTTCCTGTGGTAAAAGACAGACAAGCAAGACAGATGTCCTGATCAGAAAGATCATAATTATGTCTAAGAGGAGGGGATGATTGAAGCGTATACTGTCCCTTTAACACAATATCATTTTGATCAAATCCTTTAACTTCATTCTATTTTAAATTCTTGAACGTAGAATAGTAACAAATTTCATCTCTTTACAAGTACTTAATAATGATAGGCAAGCTCATATAACAAAAACATCTGAGTAACTTAAGCCCCCACGGTTTCCAGTAGTTTCTCCCTGTGAGAATCCACAGCCCTCACCTCCTACCTCTGTGCTTCTGTGTCAGAGTAGGGCAGCCTGCCCAGTGATCTGGCATTCATTAGCAGTTGGACCCATTACTGTTTCTGCACCTTTTCACTTCAGTAAATGAATTCCTAGGGGTTTCCAGTATAGCAAGCTTTACTCCCAACCCAGTTCGTATATGATGTGTACTGAGACAGGAGATCGAAAGGCAATGCCAAGATCCCCACCTCCCGCCCTACACTGTCCTCTTCCCTATTAATGTGGCAGTAAAAGAACACAGGGCTATCATTTTTTGGAGCACCTGCCATATTTCAGATTGTGTGCCAGGTGATTTACAAACCTTGTCTTTAAATCTCAGGACATTCTTACGAGATGGGTATGATCCTCATTCCCTAGATGAGGGAACTGAAGCTCAGAGAAGGTTATGTCCTTTGCCTGAGATAAGGGAGATAAAACCAGCATTCAGACCCACCTCTGTTGTACTACAAAGTGTGTGTTCTTGTCACTATTTCCATACAAAAAAAGATAATCTGAAACTCAATTTTGTAGTACTTCCTTCTTATTCCCAGGACTTCACTTAGACTTTTATTAGTTTAATTGAAACTTGTGAGCCAAACAAGAGAATGATATTCTGTTTTGTGTTTTGTAATCAACTAATTTCTCCTGCCACCCATGGCCACATGGCATTTGCTTTTCTAGAGTATATCATCACCTCAGTTGACCTGCACGGATGTGACTACAAGGTTTCAGTGAATAAGACTCTGTAAAAGTTACTTCAGTCACCCCAATTACATAGTGAAACTGCCTGGCATAAGGATGCCTCTATGTAGGATGGGAGGACTTGCCTTTGCAACGTTTTCTTGCTTTCTTATTATTTTACTGTGTTGTTAATTGTATTGTTCTGGTTTCAGTATACATCATCTTAGGTATATAACAAAATCAATGGGCAGTGATTGTGTTAATAGCAATTGCTGTTATTGACTAAGCTAAGCACCTTTCTCTGTGAGGCCTTGATACAAGTGCTTTACAGTCACCATTTGGGGTAGTGGAAATGGTATAAATGCCATTTTAAAGATAAGAAAATTGAGTCTCAAGGAAATTAAGTAATTTTCCCAAGTTCACACGGCTTTAGAAATCAAGGAATTAACCTTTGTGTTCAGGTCTGTTAATATTTTTGGTGTTTAATTTGTTTTTAGTGACTTTAAGTGTAAAAAAAAATCAGAGAGAAACTAAAATCATCTGAAACTTTACACTGACTTTAGAAAATAATTTTTAATCTTAAAATCAAGACACTTAGAAATTTAGATAGCAGATACATTGGAAAAGCAGGGAGGTAACTGTCAGTAAAATTAATTATTAAAATGGAGATTATGTTTTCCCCAGGGTCTCCCAGCAAGCTAAATATATCTAGAGTCGGGTGGGCTGTTTTCTGAATTTTGTGGCAGTCAAAGCTTTCTTCAGTTTAAGAATTTCAGGCATGTGGTTCTTGACTGTAGCTGTGGGACTCATTTAGAACTTCACGCTTTCCTTGGGAGGGGATGGGGTGCGGTGCAAATGCCTGTTTGTGCAAGGCTCCGAGCGGCTGACCTTCCCCTGGCTGTGCCGCAGGTGCAGAACAAGTTGGACGGCTGCTGCTACGCAGTGAAGCGCATCCCCATCAACCCGGCCAGCCGGCAGTTCCGCAGGATCAAGGGCGAAGTGACACTGCTGTCACGGCTGCACCATGAGAACATTGTGCGCTACTACAACGCCTGGATCGAGCGGCACGAGCGGCCGGCGGGACCGGGGACGCCGCCCCCGGACTCCGGGCCCCTGGCCAAGGATGACCGAGCTGCACGCGGGCAGCCGGCGAGCGACACAGACGGCCTGGACAGCGTAGAGGCCGCCGCGCCGCCACCCATCCTCAGCAGCTCGGTGGAGTGGAGCACTTCGGGCGAGCGCTCGGCCAGTGCCCGTTTCCCCGCCACCGGCCCGGGCTCCAGCGATGACGAGGACGACGACGAGGACGAGCACGGTGGCGTCTTCTCCCAGTCCTTCCTGTAAGCGCACGGCGCGGACCAGCTGCCTCTGATGCGCCCCCTAGTTTCCTTTCTTTATTTTTTTTTCCTTTTTCCTTTCATTTCCTTCCTTCCTTCTTTCCTTCTTTTCTTTCTTTCCTTTTTTGAGATAGGGTCTTGCTCTGTCACCCAGGCTGGAGGTCAGTGGCGCGTCCTTGGCTGCAACATCCGCCTCCCGGGCCAGCGAATGCCCCCCAACATTAATCCCCACCAAGTCCAAGCCAGGGAAAAGGGGATTCATTTAGAAATCCAGACGTGTTGACCATGTTTAAAAACAAAAACAAAAACAAAACAAAACCACCACTTTTAGAGAGTAACCAAATGCAATCTAAAGGAGCGGTCCCCAGCGTTTTTAGGCACCAGGGACTGGTTTCATAGAAGACAATTTTTCCACAGACGGGTGTTAGGGAAATAGTTTCGGGATGAAACTGTTCCACCTTACATCATCAGGCATTAGAGTCTCATAATGACTGCTGAAAAAGCGCACAACCTGGATCCCTCGTGTGCACAGTTCACAATAGTGTTTGCGCTCCTATGAGAATCTAATGCGGCTGCTGATCTGACAGGAGGTGGAGCTCAGGCCTTAATGCTTGCTCACCTCCGGCTGTGCGGCCCTAACAGGCAGTGGACCTGTACCTGTCCATGGCCTGGAGGTTTGGGACCCCTAATCTAAAGGATTTTTTTTCCCGCTATTTTCAAAAGATCTCCAAAATCCAAGCCATGGAAAAAGGAAAATTCAATACCTCATCTTATACATTGAATAGAATTTCTCATAGGACATTCCTTTGGATAAGGGCTTGCAACCCTGTGAAACATTTAAGAACTAATTTGGAGTCTTGATACAGTGCCAACTGCAGCCCCCAAAGGTACCAAACCAATAATTATGATCCTAAATTTTATGCTTCTCAGAATCCACCCTGGATGTTTACTTTCATGATTTTGTTTTATTTTATCCAAGTGGATACAGTTTATGATTACTCTTCACTATTAAATTTTTTGAGGAAACTTAATCTGGCTAATTTTTATTAAATCAAGGGTTCTGTGTTTTGCATAATAGCAAGTACAAATCAGCACAGTGTAGAGTATACATTGATGCCTGTGGGCTCATGGTGTGATGTCTGTAGCCTCTTGTGCTTTCTAGTATTTAAAAATGTCCATGTTTATAATGATAATAGGGATTTCTGTTCCTTTAGTATTTCTGTTTCCCTTTTTCAGGCCTGCTTCAGATTCTGAAAGTGATATTATCTTTGACAATGAAGATGAGAACAGTAAAAGTCAGAATCAGGTATATATATGAATAGAAATTATATCATTTTATTCGTGATATAATTGACGTCTGATGTCATAAACCTTAGGTAAAGTATTAAGGCTTTAATCTGATATTCAGATATAGAAACCATAAATTTTAAAAGATGATTATTCATTTAAAATATATTCTACCTGTGTTTATTTATAGACCTTCTTTATTTATCCACATAGTAAAACATACCTCCTTTTAGAAGAGAGGAGTCAGTTGAGACACTGCATTTTTGTATGTGATGAAAACAGTTTTCTAAGGGTTTGGGAAACTTTATATGGTTGGGGATAAGAATTGAATGCAAATTAATGAACTAGATTTGCATTTATGGAGTTACCTCATCATGGAGTTACCTTGGTCTGTCCCACGTCAATTAATCTTGATTCCTTATTTTCATAGACCATCCTCTAG
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AGCATTACTGTTACTGTAGAAAAACTTTTACACTAAAAAAGGAATTAAATTAGTTTTCCTGTGGTAAAAGACAGACAAGCAAGACAGATGTCCTGATCAGAAAGATCATAATTATGTCTAAGAGGAGGGGATGATTGAAGCGTATACTGTCCCTTTAACACAATATCATTTTGATCAAATCCTTTAACTTCATTCTATTTTAAATTCTTGAACGTAGAATAGTAACAAATTTCATCTCTTTACAAGTACTTAATAATGATAGGCAAGCTCATATAACAAAAACATCTGAGTAACTTAAGCCCCCACGGTTTCCAGTAGTTTCTCCCTGTGAGAATCCACAGCCCTCACCTCCTACCTCTGTGCTTCTGTGTCAGAGTAGGGCAGCCTGCCCAGTGATCTGGCATTCATTAGCAGTTGGACCCATTACTGTTTCTGCACCTTTTCACTTCAGTAAATGAATTCCTAGGGGTTTCCAGTATAGCAAGCTTTACTCCCAACCCAGTTCGTATATGATGTGTACTGAGACAGGAGATCGAAAGGCAATGCCAAGATCCCCACCTCCCGCCCTACACTGTCCTCTTCCCTATTAATGTGGCAGTAAAAGAACACAGGGCTATCATTTTTTGGAGCACCTGCCATATTTCAGATTGTGTGCCAGGTGATTTACAAACCTTGTCTTTAAATCTCAGGACATTCTTACGAGATGGGTATGATCCTCATTCCCTAGATGAGGGAACTGAAGCTCAGAGAAGGTTATGTCCTTTGCCTGAGATAAGGGAGATAAAACCAGCATTCAGACCCACCTCTGTTGTACTACAAAGTGTGTGTTCTTGTCACTATTTCCATACAAAAAAAGATAATCTGAAACTCAATTTTGTAGTACTTCCTTCTTATTCCCAGGACTTCACTTAGACTTTTATTAGTTTAATTGAAACTTGTGAGCCAAACAAGAGAATGATATTCTGTTTTGTGTTTTGTAATCAACTAATTTCTCCTGCCACCCATGGCCACATGGCATTTGCTTTTCTAGAGTATATCATCACCTCAGTTGACCTGCACGGATGTGACTACAAGGTTTCAGTGAATAAGACTCTGTAAAAGTTACTTCAGTCACCCCAATTACATAGTGAAACTGCCTGGCATAAGGATGCCTCTATGTAGGATGGGAGGACTTGCCTTTGCAACGTTTTCTTGCTTTCTTATTATTTTACTGTGTTGTTAATTGTATTGTTCTGGTTTCAGTATACATCATCTTAGGTATATAACAAAATCAATGGGCAGTGATTGTGTTAATAGCAATTGCTGTTATTGACTAAGCTAAGCACCTTTCTCTGTGAGGCCTTGATACAAGTGCTTTACAGTCACCATTTGGGGTAGTGGAAATGGTATAAATGCCATTTTAAAGATAAGAAAATTGAGTCTCAAGGAAATTAAGTAATTTTCCCAAGTTCACACGGCTTTAGAAATCAAGGAATTAACCTTTGTGTTCAGGTCTGTTAATATTTTTGGTGTTTAATTTGTTTTTAGTGACTTTAAGTGTAAAAAAAAATCAGAGAGAAACTAAAATCATCTGAAACTTTACACTGACTTTAGAAAATAATTTTTAATCTTAAAATCAAGACACTTAGAAATTTAGATAGCAGATACATTGGAAAAGCAGGGAGGTAACTGTCAGTAAAATTAATTATTAAAATGGAGATTATGTTTTCCCCAGGGTCTCCCAGCAAGCTAAATATATCTAGAGTCGGGTGGGCTGTTTTCTGAATTTTGTGGCAGTCAAAGCTTTCTTCAGTTTAAGAATTTCAGGCATGTGGTTCTTGACTGTAGCTGTGGGACTCATTTAGAACTTCACGCTTTCCTTGGGAGGGGATGGGGTGCGGTGCAAATGCCTGTTTGTGCAAGGCTCCGAGCGGCTGACCTTCCCCTGGCTGTGCCGCAGGTGCAGAACAAGTTGGACGGCTGCTGCTACGCAGTGAAGCGCATCCCCATCAACCCGGCCAGCCGGCAGTTCCGCAGGATCAAGGGCGAAGTGACACTGCTGTCACGGCGGCACCATGAGAACATTGTGCGCTACTACAACGCCTGGATCGAGCGGCACGAGCGGCCGGCGGGACCGGGGACGCCGCCCCCGGACTCCGGGCCCCTGGCCAAGGATGACCGAGCTGCACGCGGGCAGCCGGCGAGCGACACAGACGGCCTGGACAGCGTAGAGGCCGCCGCGCCGCCACCCATCCTCAGCAGCTCGGTGGAGTGGAGCACTTCGGGCGAGCGCTCGGCCAGTGCCCGTTTCCCCGCCACCGGCCCGGGCTCCAGCGATGACGAGGACGACGACGAGGACGAGCACGGTGGCGTCTTCTCCCAGTCCTTCCTGTAAGCGCACGGCGCGGACCAGCTGCCTCTGATGCGCCCCCTAGTTTCCTTTCTTTATTTTTTTTTCCTTTTTCCTTTCATTTCCTTCCTTCCTTCTTTCCTTCTTTTCTTTCTTTCCTTTTTTGAGATAGGGTCTTGCTCTGTCACCCAGGCTGGAGGTCAGTGGCGCGTCCTTGGCTGCAACATCCGCCTCCCGGGCCAGCGAATGCCCCCCAACATTAATCCCCACCAAGTCCAAGCCAGGGAAAAGGGGATTCATTTAGAAATCCAGACGTGTTGACCATGTTTAAAAACAAAAACAAAAACAAAACAAAACCACCACTTTTAGAGAGTAACCAAATGCAATCTAAAGGAGCGGTCCCCAGCGTTTTTAGGCACCAGGGACTGGTTTCATAGAAGACAATTTTTCCACAGACGGGTGTTAGGGAAATAGTTTCGGGATGAAACTGTTCCACCTTACATCATCAGGCATTAGAGTCTCATAATGACTGCTGAAAAAGCGCACAACCTGGATCCCTCGTGTGCACAGTTCACAATAGTGTTTGCGCTCCTATGAGAATCTAATGCGGCTGCTGATCTGACAGGAGGTGGAGCTCAGGCCTTAATGCTTGCTCACCTCCGGCTGTGCGGCCCTAACAGGCAGTGGACCTGTACCTGTCCATGGCCTGGAGGTTTGGGACCCCTAATCTAAAGGATTTTTTTTCCCGCTATTTTCAAAAGATCTCCAAAATCCAAGCCATGGAAAAAGGAAAATTCAATACCTCATCTTATACATTGAATAGAATTTCTCATAGGACATTCCTTTGGATAAGGGCTTGCAACCCTGTGAAACATTTAAGAACTAATTTGGAGTCTTGATACAGTGCCAACTGCAGCCCCCAAAGGTACCAAACCAATAATTATGATCCTAAATTTTATGCTTCTCAGAATCCACCCTGGATGTTTACTTTCATGATTTTGTTTTATTTTATCCAAGTGGATACAGTTTATGATTACTCTTCACTATTAAATTTTTTGAGGAAACTTAATCTGGCTAATTTTTATTAAATCAAGGGTTCTGTGTTTTGCATAATAGCAAGTACAAATCAGCACAGTGTAGAGTATACATTGATGCCTGTGGGCTCATGGTGTGATGTCTGTAGCCTCTTGTGCTTTCTAGTATTTAAAAATGTCCATGTTTATAATGATAATAGGGATTTCTGTTCCTTTAGTATTTCTGTTTCCCTTTTTCAGGCCTGCTTCAGATTCTGAAAGTGATATTATCTTTGACAATGAAGATGAGAACAGTAAAAGTCAGAATCAGGTATATATATGAATAGAAATTATATCATTTTATTCGTGATATAATTGACGTCTGATGTCATAAACCTTAGGTAAAGTATTAAGGCTTTAATCTGATATTCAGATATAGAAACCATAAATTTTAAAAGATGATTATTCATTTAAAATATATTCTACCTGTGTTTATTTATAGACCTTCTTTATTTATCCACATAGTAAAACATACCTCCTTTTAGAAGAGAGGAGTCAGTTGAGACACTGCATTTTTGTATGTGATGAAAACAGTTTTCTAAGGGTTTGGGAAACTTTATATGGTTGGGGATAAGAATTGAATGCAAATTAATGAACTAGATTTGCATTTATGGAGTTACCTCATCATGGAGTTACCTTGGTCTGTCCCACGTCAATTAATCTTGATTCCTTATTTTCATAGACCATCCTCTAG
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Task1_train_20521
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A variant affecting Chromosome 15, within the gene EIF2AK4 (eukaryotic translation initiation factor 2 alpha kinase 4), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Familial pulmonary capillary hemangiomatosis
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AGCTTCACCTTGTCCACAAAAGGATCAAGCCAGTTTCTCACAGATTCTTTTAATGCCTCTAACATAAGTTCTTATGTGAGGTATTGGAAGCCCCTAAAAGTACATGCAAAATGTGTGTATATGCATTCAGGGAAGAGGACCCATACTTTCAGTCACCTACTTGAAGGAGTCCTTGACCTTTCCTCCTCCCTACCCACCCAAGAGATTAAGAAGCAGTGCCTACAAAAATTAGCCGTGCGTGGTGGCATGCACCTGTAATCCCAGCTACCCGGGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGGAGGCAGGCGGAGGTTGCAGAGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGAGACAGAGCAAGACCCCAACTCAAAAAAAAAAAAAAAAAAGAAACAGTGCATTTAGAGACTGATCCCTAGCCCAAACGCCCAGAGCCATAAGCATCAACCAGCTCATATCTAGATGAAGTATAAAGTAGTTCCCAGTGCTGGTTGCACATCTACTTCATCTCAGAAACTCTCTGACAATGCAGATGCCCAGGTCCCGTAGCCCATCTAGTGGCTCAGAATCTCCAGGTGTGAGGCATTTCAGAATCTCATTAAAAGCTCCCAAGCAGTTTCTGAAGTGTAGCCAGGTTGCCAGTTTGGGAAGACTTTAACATTTAATTTCTTTTAAAAAGAAAAAAAATCTGAAGCATATTAGTGAAATGTTAAAATGTGTTAAAGTTGGGTGAGTAGGTAACAGGTATTTGTTATATTCTCTATTATGTTTCTGTTTGCTTAATATATATGATATAATTTAAAAAGATAGAGTAGTGGAGGAAGTCATAGTAAAATTTATGAAAGATCAGTATAGATTTTAGAGACCAAACACAATTTTTACTGGCTGGCAATATTATTATAGAAAGATATTTGCAGGATTATAGGTGACTTTTTTATAGATGTCTTTTTTCATATGTGTTGTTTCTAAATTTTCTATAGTGAAATGGTACTACTTTTATAATACAAAAACAAATGAAAAAGAAAGCTATTGGCAAAATATGTAAATGCCATGTAGCTTTCAACAGGCCTGCCATGAATCACCTTGGTATGTGGGAGGGGCCTGATGCTGTTAGGTGGTCATCGCGCCACAGTATCCCTGAGAGTCAGAGAGAATGTGTTTATTTGATTATCTCCCTCTGAAAGGCAAATATCAATGTGGCCAAGAATTTGGACTTTGAACCCAGGCATCCTTCCCATTGGTTGAAAGGTTAGCTCTTGCTTTCCAAAGCAGGCCATGAAAGATATGTGTCCTCTTCCCTGATGTGTTCAAAGAGGGATGGACTTGTCAAGACTTGTTTTTTGAACCTGGAAATAAGCAGTGTAGTGCCTACTGCAAGCCACAGATTAATATTTTAAAGGATCCCTTTGATAAGGCTTCAATGATGATGTTTTAATCGGTCCTGTTTTAGGGCAACTTCTCAATCCGTACAGCCAAGATGCAGCAGCATGTGTGTGAAACCATCATCCGCATCTTTAAAAGACATGGTATGTACGCCCTTTTTAAAAATGATATTTCTTCTCATAAGACTTTTTTCATCATTAGAAAGTACTGTTAGTGTTCGGGCATATCATATTTTACTTTCAAATTCAGTTATAAATAATTGACATCATATGGAATTTAAGCTTATTTTTGAAACTGATTTGAATATTACAGCCTTACTATTAATACTAAAATGCAATTGGTTTGTGGAGTCAGAAATATGACCAAACTGTCAAACTTAACTCTAGATGAGCTCTCTATTTATAAATTTAGAGAACTCAAGAAAAATTGATATGACTTCAATGGTCCCAGTAGCAATTACTTAACTGTCAGGTTTGTGTTAATTTTAGGTTGCCTTCTAAGGAGAATGTGAACCTGATGATGAGCTATTTTTTCTCATTTGGTGTAGGAGCTGTTCAGTTGTGTACTCCACTACTGCTTCCCCGAAACAGACAAATATATGAGCACAACGAAGCTGCCCTATTCATGGACCACAGCGGGATGCTGGTGATGCTTCCTTTTGACCTGCGGGTGAGGCTGGGAACACACTGCTGACAATCAGAATGCTGTATCTAGTCACAGGGATGGCATCTCTGTTAAAGGATTTTTCCCCCAGGCTTATATTATAAATGTCACCTTTGGGAAATGTATTCTTGAGGAAGTTGTCAGAGTGAGAGTGTTACTGGGGTGGAGGAAATGTTTGGTCCTGAATGCCTCCACCTTCCTAATAGCTCAGGTGTTTATGGCTCTAGGAACTGGAGGAACCCTGCATTGCAGGTGCCACATGTGCACCCCCCAGTGTTGAGTGACCACAGCAGGTTAACCCCACCCACTTAGACAAATAAATGTAGTTTGTTTGTCTTTTTAACTTCCTGGCTAGATCTTCAGTAAACATCCTAACATGTTAATGCCTAGAACAGTTAAATTCTTCTAACAGCAAGTGTCTCTCCTAATTGGGTATGCTGAGTTTTGCCCGTGCCTGCTTTCTTCCGACCCCCAGGGATCCTGTCGACAGCAGCAGTCTTAACTAGTCTTTCACTCACACAGTGTTGGCTACTAACAAGCTATCTGTGGTGCTGTATGATAGAGCAAGGAAAACATGCAATGCATGTGACAGACAAGGTTTAATACCTCTCACATACAGAAAGCACTGACAAGTGGAGACATGAGCAAAGGATATAACCAGGCAGCTCTCAGAAGAGAATATGTGCATGGCTGATAAACTTCTGAAAAGCTGTACTGCCTCACCAATAATAAAGAAGTGCAAAGCTGTCTCAACTTCACCCATCAGACAGGAAACATTTTTAAATTAATGTTATCCAGAGATGACAGGAGTGTAGGAAAGTAGGTATTTTCATATGTTGCTGATGGGAATGTGGACTGCTAAACCTTTAGAAAAGTAATCTAAAAGTTTATAATAAAACTTTAAAAATTTTGTTGCACATTCTTTATCCTTAGAACCAGCAATCCCACTTTGAGCAATTTACTCAAAGAAAGAAAAACACATCAGTGTATGAATGTTAAAAGGATGTTAATTGCCATATTATTGTGGTAGTCAAAAACTGTCTGTCTGTTTATCAGTAGGAAAATGGTTGAATAATTTGTCACCAATATTATGGAATATTAAGGAGCTATTGAAAAGAACATTGAGCTAGGCACAGTGGCTCATGCCTGTAATTCCAGAACTAGGCTAGGTAGGAGGAGTGCTTGAGCCCAGTAGTTCAAGACCAGCCTGGGCAACATAGGAAGACCCCATCTTTACAAAAAATTTAAAAATTAGCCCAGTGTGGTGGCTCGTGCCTGTGGTCTCAGCTACTTGGGAGGTTAAGGCAGGAGGATTGGTTGAGCCCAGGAAGTCAAGGCTTCAGTGAGCCATGATTCTGCCACTGCACTCCAGCCTAGGAAACAGGGCAAGACTCTGTCTCAAAAAGAAAATTTAAAAATTTTTTTTTGTAGAAACGGGCTCTCGCTGTGTTGCCCAGGCTGGTCTCAAACTGCTGGACTCAAGCAGATCCTTCTGCCTCAGCCTCCCAAAATACTGGAATTACAGGCATGAGCCGCCATGCCCAGCCAATCTATATTTTTATATAGATCAAATATGTATTTTTTATATATGTATAAGATGAAAATACAGTCAGCTCTTCGTACATATCCTTGGATTCCACATCCACGTATCCAGCCAACTGTGGATGGAAAATACTCAGAAAAAAAAATTCCAACAAGCAAAATTTGAATTTACCATGTGCTAAACACTGCATTGAATCCACACAAAAGAAGGGATGTATAGGCATAGTAGTAGATATTATAAGTAATCTAAAGATGATTTAAAGTGTACAGGAGGATGCGCATAGGCTATAGGCAAATGCTCTGTCATTTTATATCAGGAACTTAACCATCCACTGATTTTGGTATCCTTGGGGGAGTCCCGGAACCAATTTCTGAGGGACAACTATACATATTTAGATATAGCCATATTTATACTTGATTTGTAGGAATGTGCATGGCACATTGTTAGCTTTTTTTAAAAAGTAAATTTCAAAGGAACTCTATTATCCCATTTTTATT
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AGCTTCACCTTGTCCACAAAAGGATCAAGCCAGTTTCTCACAGATTCTTTTAATGCCTCTAACATAAGTTCTTATGTGAGGTATTGGAAGCCCCTAAAAGTACATGCAAAATGTGTGTATATGCATTCAGGGAAGAGGACCCATACTTTCAGTCACCTACTTGAAGGAGTCCTTGACCTTTCCTCCTCCCTACCCACCCAAGAGATTAAGAAGCAGTGCCTACAAAAATTAGCCGTGCGTGGTGGCATGCACCTGTAATCCCAGCTACCCGGGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGGAGGCAGGCGGAGGTTGCAGAGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGAGACAGAGCAAGACCCCAACTCAAAAAAAAAAAAAAAAAAGAAACAGTGCATTTAGAGACTGATCCCTAGCCCAAACGCCCAGAGCCATAAGCATCAACCAGCTCATATCTAGATGAAGTATAAAGTAGTTCCCAGTGCTGGTTGCACATCTACTTCATCTCAGAAACTCTCTGACAATGCAGATGCCCAGGTCCCGTAGCCCATCTAGTGGCTCAGAATCTCCAGGTGTGAGGCATTTCAGAATCTCATTAAAAGCTCCCAAGCAGTTTCTGAAGTGTAGCCAGGTTGCCAGTTTGGGAAGACTTTAACATTTAATTTCTTTTAAAAAGAAAAAAAATCTGAAGCATATTAGTGAAATGTTAAAATGTGTTAAAGTTGGGTGAGTAGGTAACAGGTATTTGTTATATTCTCTATTATGTTTCTGTTTGCTTAATATATATGATATAATTTAAAAAGATAGAGTAGTGGAGGAAGTCATAGTAAAATTTATGAAAGATCAGTATAGATTTTAGAGACCAAACACAATTTTTACTGGCTGGCAATATTATTATAGAAAGATATTTGCAGGATTATAGGTGACTTTTTTATAGATGTCTTTTTTCATATGTGTTGTTTCTAAATTTTCTATAGTGAAATGGTACTACTTTTATAATACAAAAACAAATGAAAAAGAAAGCTATTGGCAAAATATGTAAATGCCATGTAGCTTTCAACAGGCCTGCCATGAATCACCTTGGTATGTGGGAGGGGCCTGATGCTGTTAGGTGGTCATCGCGCCACAGTATCCCTGAGAGTCAGAGAGAATGTGTTTATTTGATTATCTCCCTCTGAAAGGCAAATATCAATGTGGCCAAGAATTTGGACTTTGAACCCAGGCATCCTTCCCATTGGTTGAAAGGTTAGCTCTTGCTTTCCAAAGCAGGCCATGAAAGATATGTGTCCTCTTCCCTGATGTGTTCAAAGAGGGATGGACTTGTCAAGACTTGTTTTTTGAACCTGGAAATAAGCAGTGTAGTGCCTACTGCAAGCCACAGATTAATATTTTAAAGGATCCCTTTGATAAGGCTTCAATGATGATGTTTTAATCGGTCCTGTTTTAGGGCAACTTCTCAATCCGTACAGCCAAGATGCAGCAGCATGTGTGTGAAACCATCATCCGCATCTTTAAAAGACATGGTATGTACGCCCTTTTTAAAAATGATATTTCTTCTCATAAGACTTTTTTCATCATTAGAAAGTACTGTTAGTGTTCGGGCATATCATATTTTACTTTCAAATTCAGTTATAAATAATTGACATCATATGGAATTTAAGCTTATTTTTGAAACTGATTTGAATATTACAGCCTTACTATTAATACTAAAATGCAATTGGTTTGTGGAGTCAGAAATATGACCAAACTGTCAAACTTAACTCTAGATGAGCTCTCTATTTATAAATTTAGAGAACTCAAGAAAAATTGATATGACTTCAATGGTCCCAGTAGCAATTACTTAACTGTCAGGTTTGTGTTAATTTTAGGTTGCCTTCTAAGGAGAATGTGAACCTGATGATGAGCTATTTTTTCTCATTTGGTGTAGGAGCTGTTCAGTTGTGTACTCCACTACTGCTTCCCCGAAACAGACAAATATATGAGCACAACGAAGCTGCCCTATTCATGGACCACAGCGGGATGCTGGTGATGCTTCTTTTTGACCTGCGGGTGAGGCTGGGAACACACTGCTGACAATCAGAATGCTGTATCTAGTCACAGGGATGGCATCTCTGTTAAAGGATTTTTCCCCCAGGCTTATATTATAAATGTCACCTTTGGGAAATGTATTCTTGAGGAAGTTGTCAGAGTGAGAGTGTTACTGGGGTGGAGGAAATGTTTGGTCCTGAATGCCTCCACCTTCCTAATAGCTCAGGTGTTTATGGCTCTAGGAACTGGAGGAACCCTGCATTGCAGGTGCCACATGTGCACCCCCCAGTGTTGAGTGACCACAGCAGGTTAACCCCACCCACTTAGACAAATAAATGTAGTTTGTTTGTCTTTTTAACTTCCTGGCTAGATCTTCAGTAAACATCCTAACATGTTAATGCCTAGAACAGTTAAATTCTTCTAACAGCAAGTGTCTCTCCTAATTGGGTATGCTGAGTTTTGCCCGTGCCTGCTTTCTTCCGACCCCCAGGGATCCTGTCGACAGCAGCAGTCTTAACTAGTCTTTCACTCACACAGTGTTGGCTACTAACAAGCTATCTGTGGTGCTGTATGATAGAGCAAGGAAAACATGCAATGCATGTGACAGACAAGGTTTAATACCTCTCACATACAGAAAGCACTGACAAGTGGAGACATGAGCAAAGGATATAACCAGGCAGCTCTCAGAAGAGAATATGTGCATGGCTGATAAACTTCTGAAAAGCTGTACTGCCTCACCAATAATAAAGAAGTGCAAAGCTGTCTCAACTTCACCCATCAGACAGGAAACATTTTTAAATTAATGTTATCCAGAGATGACAGGAGTGTAGGAAAGTAGGTATTTTCATATGTTGCTGATGGGAATGTGGACTGCTAAACCTTTAGAAAAGTAATCTAAAAGTTTATAATAAAACTTTAAAAATTTTGTTGCACATTCTTTATCCTTAGAACCAGCAATCCCACTTTGAGCAATTTACTCAAAGAAAGAAAAACACATCAGTGTATGAATGTTAAAAGGATGTTAATTGCCATATTATTGTGGTAGTCAAAAACTGTCTGTCTGTTTATCAGTAGGAAAATGGTTGAATAATTTGTCACCAATATTATGGAATATTAAGGAGCTATTGAAAAGAACATTGAGCTAGGCACAGTGGCTCATGCCTGTAATTCCAGAACTAGGCTAGGTAGGAGGAGTGCTTGAGCCCAGTAGTTCAAGACCAGCCTGGGCAACATAGGAAGACCCCATCTTTACAAAAAATTTAAAAATTAGCCCAGTGTGGTGGCTCGTGCCTGTGGTCTCAGCTACTTGGGAGGTTAAGGCAGGAGGATTGGTTGAGCCCAGGAAGTCAAGGCTTCAGTGAGCCATGATTCTGCCACTGCACTCCAGCCTAGGAAACAGGGCAAGACTCTGTCTCAAAAAGAAAATTTAAAAATTTTTTTTTGTAGAAACGGGCTCTCGCTGTGTTGCCCAGGCTGGTCTCAAACTGCTGGACTCAAGCAGATCCTTCTGCCTCAGCCTCCCAAAATACTGGAATTACAGGCATGAGCCGCCATGCCCAGCCAATCTATATTTTTATATAGATCAAATATGTATTTTTTATATATGTATAAGATGAAAATACAGTCAGCTCTTCGTACATATCCTTGGATTCCACATCCACGTATCCAGCCAACTGTGGATGGAAAATACTCAGAAAAAAAAATTCCAACAAGCAAAATTTGAATTTACCATGTGCTAAACACTGCATTGAATCCACACAAAAGAAGGGATGTATAGGCATAGTAGTAGATATTATAAGTAATCTAAAGATGATTTAAAGTGTACAGGAGGATGCGCATAGGCTATAGGCAAATGCTCTGTCATTTTATATCAGGAACTTAACCATCCACTGATTTTGGTATCCTTGGGGGAGTCCCGGAACCAATTTCTGAGGGACAACTATACATATTTAGATATAGCCATATTTATACTTGATTTGTAGGAATGTGCATGGCACATTGTTAGCTTTTTTTAAAAAGTAAATTTCAAAGGAACTCTATTATCCCATTTTTATT
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Task1_train_20522
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The following genetic variant occurs in IVD (isovaleryl-CoA dehydrogenase) on Chromosome 15. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Isovaleryl-CoA dehydrogenase deficiency
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TCATAGTAGCCTTAAAGTTGGTTGGTATCATTTTCGTTTTAAAGATGATGAAACAGTGACTGAAAAGATCTAAGAAACTTGCCGAAAGTCCCACAGCTATGTAGTGGGATTGCATAGACTCCTGGACTCAGGGTACCAACCTGAGATGAGTTGTTCAAGAGCATTGACTTGGCTGGGTTCCGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGACAGGAGGATCACATGAGCCCAGGAGTTCAAGATCAGCTTGGGCAACATAGTGAGACTGCCCACCCCCACCCCGGCCCCATCTCTAATTAATTAATTAAATTTTAAAAATAACATTGACACAACATGGAGGAGGAAAATAGAGCAAGTGGAGAGGGGATAGAGACTTAATTCCATCAGCTCCCCTCTTTCCCCTCACCACTCTTCCTTTCCCTGTGTCCCGAACCCGTGTTTCTAAGTCCTGACTGCTATTATTCTGGTGTATTAAATACATACTATTTACTATTTAATACATCTTTTGTTGTTGTTTGTTTTCTCAAATTTTTTGTGGAGACAGGGTCTCCCTATGTTGCACAGGATGGTCTTGGACTCCTGGCCTCGAGCGATCTTCCCACCTAAGCTCCCAAAGTCCTAGGATTACAGGCATGAGCAACCATGCCCAGCCTATTTAATACATCTTATTTAATATATAGTATAATACGTAAATATGTACTATTTAATATTTAACACATATTAAATACAAATGGTCCCCAACTTACAATAGTTCAACTTAAGATTTTTCAACTTTATGATGGTGTGAAAGTGATAGACATTGAATAGAAACTGTACAATATTCAATAAATGATATCTAACACTGTCTTATAAAATATGCTTTGTGTTACATGATTGTGCCGTTATAAGCTATTATAAGTGTTCCAAGTACGTTTAAGGTCCACTAGTCTAAGCTATGATGTTTGGTAGGTTAGGTGTTTTTTTGTTTTCTGTTTTGAGACGGAGTGTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACCGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAACCTCCTGAGTAGCTGGGATTACAGGCATGCACCACCACGCCCAGCTAATTTTTGTATTTGTAGTAGAGACAGGATTTCTCCATGTTGGCCAGGCTGGTCTAAAACTCTCCGCCTCAGGTGACTCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCATGCCCGGCCTAAGTGTATTTTCAAAGTGCATTTTTGACTTACAATATTTTCCATTTATGATGGGTTTATCGAGAAGTAACCCCACTGTAAATCGAGGCGCATCTCCAATCTAGAAGGCAGCTACTCCTTAATAACCCCTTTCCCATAAAACATGAATCTAAATCTACAAACCTTGTTATATAATAAAGCAAGATGTACTCTGTTATGATCAGTGTGCACGTTAGAGCAAGCACTACTTTTCCGATCTTAATTATTCCAGAGATGCTTGACCAATTTACTGGGTACGTGGGCAGTTTTCTGATTGCTGTTTCCACACTCTGCTTTCCCACAGAGAGATTTCCGCAGTTAGGGGCTGCTATTTCAACGCAGGGAGATAAAAAGAAAAAAACACTTGCTCTTCTACCCCGCTAAAAACACTCATCCTAGGGAGCACGCCAGCATTTGCAGCGTTCGGGGCAGGGCCACTCGGCCTGCGGCCGTTGCACTGGCTGGAAGCTGGCAGGCGATCACGGTTGATTGGCTCGGGTGCGGTCCAAGGGCAGCAACGCCTTCGGCGGGCCGCCTAGGGTGATTGGCTGCTGCAGCCCACCCCCTAGCCGGTTTGGTGGGCGGCGAAGCCTGGATTGGTGGAGCTAAGAGCTGGCTCAGTTTCAGCGCTGGCTCTTCGTGCATGGCAGAGATGGCGACTGCGACTCGGCTGCTGGGGTGGCGTGTGGCGAGCTGGAGGCTGCGGCCGCCGCTTGCCGGCTTCGTTTCCCAGCGGGCCCACTCGCTTTTGCCCGTGGACGATGCAATCAATGGGCTAAGCGAGGAGCAGAGGCAGGTGAGGAGACTGACCCCCTTCCTGGCCCCAAGGCCTCCTTCCTGCCTGGTCCCCAAGGCCTCCTTCCTGCCTGGTCCCCATCGGCCCAGCGCCCACCCAGCCTTGGCTTTTGCCCGTGGGCCGTTGGGAGCGCCAGCGCGGGGGCGGGACGCGGGGCCTCCGACCTCGGGTCCAGTCCTCTGACCTCGGCCTCACGTCTGTGGAGTGAAGATTTGAGACCGTGGGACAGTACTGCTGGAAGTAGAGAGGAGGAGTCGAGGCTGGGAGAGCTCCTGAGAGACTGATGGTGTTTTGGTGGAGGATTGGCCAGGCTACCTACCGCTTGTGGCACAAGGGCCCTCAATCTGTATGTAGTTCACTTACACCTGAACAGGCTGAGGTATGCTTCTCACACCTGGGTGGTCATCGTAATCACCAGGGAGTCTTTTTTGTATAAACAGTTTGGGGGTTTTAAAAAGCCACAGTGAGCTCTCCTGTCGCTCTTCAGCCCATTGGGTCAAAACACAAAAGTTGAACAAGTACTTGAAAGAAGTAGTTGGAGGCCAGGCGCCGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGTGGGAGGATTGTTTGAGCTCAGGGGTTTGAGATCAGCCTAAGCAACATAGCCAGACCCCCATCTCATAAAAAATAGAAAAGAAGACGAAGTAGTATTTACAAATGGAGCAGAACCAGAGTCCTTCCTGAGGTTTCACTTGGAGGCTGGATGGAGTTGGCGGAGGTATGAGCCTCCCAGCAACTCCGTAGTTTATGTTTATAGCCAGCGAGCGCTCAGAGCTTCCGTGAACCACCTCAAGTGGAAAGGGTTCAATCCCTATTCTCAAGCTTTCCTGGCAAGAGGAGTTTCTTTTCTTTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGTAATGGCGCGATCTCCGCTCACCACAACGTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGCATGCACCACCACGCCCGGCTAATTTTGTGTTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCCAACCTCAGGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCCGCCAAGAGGCGTTTCTAATCTCTTTGGGTAATCAGACCCTTTTAGCCAAAGGTTCGGGGGCTTAAAAGAGCCTGACAACTATTGAGATCTGGCAGCTGCCTGGAATGCAGCTGGAGCACAGAGGGTGGGAGGTGGGAAGGTGCTGGGGAAGCTAGGAGAGTCAGCTGGGGTCAGCTCCTGCAGGGCCTAGTAGGCCTGGGTGAGAAGCTTGTGTTTTATTCTAAGTACAGTGGAAACCAATGGAATGATTTTTATGTAAAGTGTGACGTTTTAAAAATTACCATCAAGCTGTCTAGGCTGAAGACCTTAAGAAAGAGGGGTGAAGATCATCTCTGAGGAGGCATAAACTACTGAGGCCTCTCAGTTTCAGTCTGATGCTGTTTGGGGAAGTTACTTGTGGCCTTTTCTCTTGAATGTGTCTGGGTAGTGGAGATGCTGTCTGCAGTGGCATCTGTTTACCTCTCTCCTATTAGCTTCGTCAGACCATGGCTAAGTTCCTTCAGGAGCACCTGGCCCCCAAGGCCCAGGAGATCGATCGCAGCAATGAGTTCAAGAACCTGCGAGTGAGTTGGGAGGTCCGGGCAGTCGGGGGCAGTCAGGGAGTGGGGCTGAGCTGCACTGCTGCCTGGAAGAGCTCACACAGTTTTCTGGTAAATGAAGCCTCTCTAAGAATGCAGCCCCTCTCTCTGAAGTGTTTGGGTCTCATTGTTCCAGCCACATGTGACTGGCTGCCTTCCCCTCAACACTTATTCCACTCTGCTCCATTCTGTTGGCAGGAATTTTGGAAGCAGCTGGGGAACCTGGGCGTATTGGGCATCACA
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TCATAGTAGCCTTAAAGTTGGTTGGTATCATTTTCGTTTTAAAGATGATGAAACAGTGACTGAAAAGATCTAAGAAACTTGCCGAAAGTCCCACAGCTATGTAGTGGGATTGCATAGACTCCTGGACTCAGGGTACCAACCTGAGATGAGTTGTTCAAGAGCATTGACTTGGCTGGGTTCCGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGACAGGAGGATCACATGAGCCCAGGAGTTCAAGATCAGCTTGGGCAACATAGTGAGACTGCCCACCCCCACCCCGGCCCCATCTCTAATTAATTAATTAAATTTTAAAAATAACATTGACACAACATGGAGGAGGAAAATAGAGCAAGTGGAGAGGGGATAGAGACTTAATTCCATCAGCTCCCCTCTTTCCCCTCACCACTCTTCCTTTCCCTGTGTCCCGAACCCGTGTTTCTAAGTCCTGACTGCTATTATTCTGGTGTATTAAATACATACTATTTACTATTTAATACATCTTTTGTTGTTGTTTGTTTTCTCAAATTTTTTGTGGAGACAGGGTCTCCCTATGTTGCACAGGATGGTCTTGGACTCCTGGCCTCGAGCGATCTTCCCACCTAAGCTCCCAAAGTCCTAGGATTACAGGCATGAGCAACCATGCCCAGCCTATTTAATACATCTTATTTAATATATAGTATAATACGTAAATATGTACTATTTAATATTTAACACATATTAAATACAAATGGTCCCCAACTTACAATAGTTCAACTTAAGATTTTTCAACTTTATGATGGTGTGAAAGTGATAGACATTGAATAGAAACTGTACAATATTCAATAAATGATATCTAACACTGTCTTATAAAATATGCTTTGTGTTACATGATTGTGCCGTTATAAGCTATTATAAGTGTTCCAAGTACGTTTAAGGTCCACTAGTCTAAGCTATGATGTTTGGTAGGTTAGGTGTTTTTTTGTTTTCTGTTTTGAGACGGAGTGTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACCGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAACCTCCTGAGTAGCTGGGATTACAGGCATGCACCACCACGCCCAGCTAATTTTTGTATTTGTAGTAGAGACAGGATTTCTCCATGTTGGCCAGGCTGGTCTAAAACTCTCCGCCTCAGGTGACTCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCATGCCCGGCCTAAGTGTATTTTCAAAGTGCATTTTTGACTTACAATATTTTCCATTTATGATGGGTTTATCGAGAAGTAACCCCACTGTAAATCGAGGCGCATCTCCAATCTAGAAGGCAGCTACTCCTTAATAACCCCTTTCCCATAAAACATGAATCTAAATCTACAAACCTTGTTATATAATAAAGCAAGATGTACTCTGTTATGATCAGTGTGCACGTTAGAGCAAGCACTACTTTTCCGATCTTAATTATTCCAGAGATGCTTGACCAATTTACTGGGTACGTGGGCAGTTTTCTGATTGCTGTTTCCACACTCTGCTTTCCCACAGAGAGATTTCCGCAGTTAGGGGCTGCTATTTCAACGCAGGGAGATAAAAAGAAAAAAACACTTGCTCTTCTACCCCGCTAAAAACACTCATCCTAGGGAGCACGCCAGCATTTGCAGCGTTCGGGGCAGGGCCACTCGGCCTGCGGCCGTTGCACTGGCTGGAAGCTGGCAGGCGATCACGGTTGATTGGCTCGGGTGCGGTCCAAGGGCAGCAACGCCTTCGGCGGGCCGCCTAGGGTGATTGGCTGCTGCAGCCCACCCCCTAGCCGGTTTGGTGGGCGGCGAAGCCTGGATTGGTGGAGCTAAGAGCTGGCTCAGTTTCAGCGCTGGCTCTTCGTGCATGGCAGAGATGGCGACTGCGACTCGGCTGCTGGGGTGGCGTGTGGCGAGCTGGAGGCTGCGGCCGCCGCTTGCCGGCTTCGTTTCCCAGCGGGCCCACTCGCTTTTGCCCGTGGACAATGCAATCAATGGGCTAAGCGAGGAGCAGAGGCAGGTGAGGAGACTGACCCCCTTCCTGGCCCCAAGGCCTCCTTCCTGCCTGGTCCCCAAGGCCTCCTTCCTGCCTGGTCCCCATCGGCCCAGCGCCCACCCAGCCTTGGCTTTTGCCCGTGGGCCGTTGGGAGCGCCAGCGCGGGGGCGGGACGCGGGGCCTCCGACCTCGGGTCCAGTCCTCTGACCTCGGCCTCACGTCTGTGGAGTGAAGATTTGAGACCGTGGGACAGTACTGCTGGAAGTAGAGAGGAGGAGTCGAGGCTGGGAGAGCTCCTGAGAGACTGATGGTGTTTTGGTGGAGGATTGGCCAGGCTACCTACCGCTTGTGGCACAAGGGCCCTCAATCTGTATGTAGTTCACTTACACCTGAACAGGCTGAGGTATGCTTCTCACACCTGGGTGGTCATCGTAATCACCAGGGAGTCTTTTTTGTATAAACAGTTTGGGGGTTTTAAAAAGCCACAGTGAGCTCTCCTGTCGCTCTTCAGCCCATTGGGTCAAAACACAAAAGTTGAACAAGTACTTGAAAGAAGTAGTTGGAGGCCAGGCGCCGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGTGGGAGGATTGTTTGAGCTCAGGGGTTTGAGATCAGCCTAAGCAACATAGCCAGACCCCCATCTCATAAAAAATAGAAAAGAAGACGAAGTAGTATTTACAAATGGAGCAGAACCAGAGTCCTTCCTGAGGTTTCACTTGGAGGCTGGATGGAGTTGGCGGAGGTATGAGCCTCCCAGCAACTCCGTAGTTTATGTTTATAGCCAGCGAGCGCTCAGAGCTTCCGTGAACCACCTCAAGTGGAAAGGGTTCAATCCCTATTCTCAAGCTTTCCTGGCAAGAGGAGTTTCTTTTCTTTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGTAATGGCGCGATCTCCGCTCACCACAACGTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGCATGCACCACCACGCCCGGCTAATTTTGTGTTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCCAACCTCAGGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCCGCCAAGAGGCGTTTCTAATCTCTTTGGGTAATCAGACCCTTTTAGCCAAAGGTTCGGGGGCTTAAAAGAGCCTGACAACTATTGAGATCTGGCAGCTGCCTGGAATGCAGCTGGAGCACAGAGGGTGGGAGGTGGGAAGGTGCTGGGGAAGCTAGGAGAGTCAGCTGGGGTCAGCTCCTGCAGGGCCTAGTAGGCCTGGGTGAGAAGCTTGTGTTTTATTCTAAGTACAGTGGAAACCAATGGAATGATTTTTATGTAAAGTGTGACGTTTTAAAAATTACCATCAAGCTGTCTAGGCTGAAGACCTTAAGAAAGAGGGGTGAAGATCATCTCTGAGGAGGCATAAACTACTGAGGCCTCTCAGTTTCAGTCTGATGCTGTTTGGGGAAGTTACTTGTGGCCTTTTCTCTTGAATGTGTCTGGGTAGTGGAGATGCTGTCTGCAGTGGCATCTGTTTACCTCTCTCCTATTAGCTTCGTCAGACCATGGCTAAGTTCCTTCAGGAGCACCTGGCCCCCAAGGCCCAGGAGATCGATCGCAGCAATGAGTTCAAGAACCTGCGAGTGAGTTGGGAGGTCCGGGCAGTCGGGGGCAGTCAGGGAGTGGGGCTGAGCTGCACTGCTGCCTGGAAGAGCTCACACAGTTTTCTGGTAAATGAAGCCTCTCTAAGAATGCAGCCCCTCTCTCTGAAGTGTTTGGGTCTCATTGTTCCAGCCACATGTGACTGGCTGCCTTCCCCTCAACACTTATTCCACTCTGCTCCATTCTGTTGGCAGGAATTTTGGAAGCAGCTGGGGAACCTGGGCGTATTGGGCATCACA
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Task1_train_20523
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A variant affecting Chromosome 15, within the gene IVD (isovaleryl-CoA dehydrogenase), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Isovaleric acidemia, type I
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GTTGGTTGGTATCATTTTCGTTTTAAAGATGATGAAACAGTGACTGAAAAGATCTAAGAAACTTGCCGAAAGTCCCACAGCTATGTAGTGGGATTGCATAGACTCCTGGACTCAGGGTACCAACCTGAGATGAGTTGTTCAAGAGCATTGACTTGGCTGGGTTCCGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGACAGGAGGATCACATGAGCCCAGGAGTTCAAGATCAGCTTGGGCAACATAGTGAGACTGCCCACCCCCACCCCGGCCCCATCTCTAATTAATTAATTAAATTTTAAAAATAACATTGACACAACATGGAGGAGGAAAATAGAGCAAGTGGAGAGGGGATAGAGACTTAATTCCATCAGCTCCCCTCTTTCCCCTCACCACTCTTCCTTTCCCTGTGTCCCGAACCCGTGTTTCTAAGTCCTGACTGCTATTATTCTGGTGTATTAAATACATACTATTTACTATTTAATACATCTTTTGTTGTTGTTTGTTTTCTCAAATTTTTTGTGGAGACAGGGTCTCCCTATGTTGCACAGGATGGTCTTGGACTCCTGGCCTCGAGCGATCTTCCCACCTAAGCTCCCAAAGTCCTAGGATTACAGGCATGAGCAACCATGCCCAGCCTATTTAATACATCTTATTTAATATATAGTATAATACGTAAATATGTACTATTTAATATTTAACACATATTAAATACAAATGGTCCCCAACTTACAATAGTTCAACTTAAGATTTTTCAACTTTATGATGGTGTGAAAGTGATAGACATTGAATAGAAACTGTACAATATTCAATAAATGATATCTAACACTGTCTTATAAAATATGCTTTGTGTTACATGATTGTGCCGTTATAAGCTATTATAAGTGTTCCAAGTACGTTTAAGGTCCACTAGTCTAAGCTATGATGTTTGGTAGGTTAGGTGTTTTTTTGTTTTCTGTTTTGAGACGGAGTGTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACCGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAACCTCCTGAGTAGCTGGGATTACAGGCATGCACCACCACGCCCAGCTAATTTTTGTATTTGTAGTAGAGACAGGATTTCTCCATGTTGGCCAGGCTGGTCTAAAACTCTCCGCCTCAGGTGACTCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCATGCCCGGCCTAAGTGTATTTTCAAAGTGCATTTTTGACTTACAATATTTTCCATTTATGATGGGTTTATCGAGAAGTAACCCCACTGTAAATCGAGGCGCATCTCCAATCTAGAAGGCAGCTACTCCTTAATAACCCCTTTCCCATAAAACATGAATCTAAATCTACAAACCTTGTTATATAATAAAGCAAGATGTACTCTGTTATGATCAGTGTGCACGTTAGAGCAAGCACTACTTTTCCGATCTTAATTATTCCAGAGATGCTTGACCAATTTACTGGGTACGTGGGCAGTTTTCTGATTGCTGTTTCCACACTCTGCTTTCCCACAGAGAGATTTCCGCAGTTAGGGGCTGCTATTTCAACGCAGGGAGATAAAAAGAAAAAAACACTTGCTCTTCTACCCCGCTAAAAACACTCATCCTAGGGAGCACGCCAGCATTTGCAGCGTTCGGGGCAGGGCCACTCGGCCTGCGGCCGTTGCACTGGCTGGAAGCTGGCAGGCGATCACGGTTGATTGGCTCGGGTGCGGTCCAAGGGCAGCAACGCCTTCGGCGGGCCGCCTAGGGTGATTGGCTGCTGCAGCCCACCCCCTAGCCGGTTTGGTGGGCGGCGAAGCCTGGATTGGTGGAGCTAAGAGCTGGCTCAGTTTCAGCGCTGGCTCTTCGTGCATGGCAGAGATGGCGACTGCGACTCGGCTGCTGGGGTGGCGTGTGGCGAGCTGGAGGCTGCGGCCGCCGCTTGCCGGCTTCGTTTCCCAGCGGGCCCACTCGCTTTTGCCCGTGGACGATGCAATCAATGGGCTAAGCGAGGAGCAGAGGCAGGTGAGGAGACTGACCCCCTTCCTGGCCCCAAGGCCTCCTTCCTGCCTGGTCCCCAAGGCCTCCTTCCTGCCTGGTCCCCATCGGCCCAGCGCCCACCCAGCCTTGGCTTTTGCCCGTGGGCCGTTGGGAGCGCCAGCGCGGGGGCGGGACGCGGGGCCTCCGACCTCGGGTCCAGTCCTCTGACCTCGGCCTCACGTCTGTGGAGTGAAGATTTGAGACCGTGGGACAGTACTGCTGGAAGTAGAGAGGAGGAGTCGAGGCTGGGAGAGCTCCTGAGAGACTGATGGTGTTTTGGTGGAGGATTGGCCAGGCTACCTACCGCTTGTGGCACAAGGGCCCTCAATCTGTATGTAGTTCACTTACACCTGAACAGGCTGAGGTATGCTTCTCACACCTGGGTGGTCATCGTAATCACCAGGGAGTCTTTTTTGTATAAACAGTTTGGGGGTTTTAAAAAGCCACAGTGAGCTCTCCTGTCGCTCTTCAGCCCATTGGGTCAAAACACAAAAGTTGAACAAGTACTTGAAAGAAGTAGTTGGAGGCCAGGCGCCGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGTGGGAGGATTGTTTGAGCTCAGGGGTTTGAGATCAGCCTAAGCAACATAGCCAGACCCCCATCTCATAAAAAATAGAAAAGAAGACGAAGTAGTATTTACAAATGGAGCAGAACCAGAGTCCTTCCTGAGGTTTCACTTGGAGGCTGGATGGAGTTGGCGGAGGTATGAGCCTCCCAGCAACTCCGTAGTTTATGTTTATAGCCAGCGAGCGCTCAGAGCTTCCGTGAACCACCTCAAGTGGAAAGGGTTCAATCCCTATTCTCAAGCTTTCCTGGCAAGAGGAGTTTCTTTTCTTTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGTAATGGCGCGATCTCCGCTCACCACAACGTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGCATGCACCACCACGCCCGGCTAATTTTGTGTTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCCAACCTCAGGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCCGCCAAGAGGCGTTTCTAATCTCTTTGGGTAATCAGACCCTTTTAGCCAAAGGTTCGGGGGCTTAAAAGAGCCTGACAACTATTGAGATCTGGCAGCTGCCTGGAATGCAGCTGGAGCACAGAGGGTGGGAGGTGGGAAGGTGCTGGGGAAGCTAGGAGAGTCAGCTGGGGTCAGCTCCTGCAGGGCCTAGTAGGCCTGGGTGAGAAGCTTGTGTTTTATTCTAAGTACAGTGGAAACCAATGGAATGATTTTTATGTAAAGTGTGACGTTTTAAAAATTACCATCAAGCTGTCTAGGCTGAAGACCTTAAGAAAGAGGGGTGAAGATCATCTCTGAGGAGGCATAAACTACTGAGGCCTCTCAGTTTCAGTCTGATGCTGTTTGGGGAAGTTACTTGTGGCCTTTTCTCTTGAATGTGTCTGGGTAGTGGAGATGCTGTCTGCAGTGGCATCTGTTTACCTCTCTCCTATTAGCTTCGTCAGACCATGGCTAAGTTCCTTCAGGAGCACCTGGCCCCCAAGGCCCAGGAGATCGATCGCAGCAATGAGTTCAAGAACCTGCGAGTGAGTTGGGAGGTCCGGGCAGTCGGGGGCAGTCAGGGAGTGGGGCTGAGCTGCACTGCTGCCTGGAAGAGCTCACACAGTTTTCTGGTAAATGAAGCCTCTCTAAGAATGCAGCCCCTCTCTCTGAAGTGTTTGGGTCTCATTGTTCCAGCCACATGTGACTGGCTGCCTTCCCCTCAACACTTATTCCACTCTGCTCCATTCTGTTGGCAGGAATTTTGGAAGCAGCTGGGGAACCTGGGCGTATTGGGCATCACAGCCCCTGGTGAGTATA
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GTTGGTTGGTATCATTTTCGTTTTAAAGATGATGAAACAGTGACTGAAAAGATCTAAGAAACTTGCCGAAAGTCCCACAGCTATGTAGTGGGATTGCATAGACTCCTGGACTCAGGGTACCAACCTGAGATGAGTTGTTCAAGAGCATTGACTTGGCTGGGTTCCGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGACAGGAGGATCACATGAGCCCAGGAGTTCAAGATCAGCTTGGGCAACATAGTGAGACTGCCCACCCCCACCCCGGCCCCATCTCTAATTAATTAATTAAATTTTAAAAATAACATTGACACAACATGGAGGAGGAAAATAGAGCAAGTGGAGAGGGGATAGAGACTTAATTCCATCAGCTCCCCTCTTTCCCCTCACCACTCTTCCTTTCCCTGTGTCCCGAACCCGTGTTTCTAAGTCCTGACTGCTATTATTCTGGTGTATTAAATACATACTATTTACTATTTAATACATCTTTTGTTGTTGTTTGTTTTCTCAAATTTTTTGTGGAGACAGGGTCTCCCTATGTTGCACAGGATGGTCTTGGACTCCTGGCCTCGAGCGATCTTCCCACCTAAGCTCCCAAAGTCCTAGGATTACAGGCATGAGCAACCATGCCCAGCCTATTTAATACATCTTATTTAATATATAGTATAATACGTAAATATGTACTATTTAATATTTAACACATATTAAATACAAATGGTCCCCAACTTACAATAGTTCAACTTAAGATTTTTCAACTTTATGATGGTGTGAAAGTGATAGACATTGAATAGAAACTGTACAATATTCAATAAATGATATCTAACACTGTCTTATAAAATATGCTTTGTGTTACATGATTGTGCCGTTATAAGCTATTATAAGTGTTCCAAGTACGTTTAAGGTCCACTAGTCTAAGCTATGATGTTTGGTAGGTTAGGTGTTTTTTTGTTTTCTGTTTTGAGACGGAGTGTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACCGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAACCTCCTGAGTAGCTGGGATTACAGGCATGCACCACCACGCCCAGCTAATTTTTGTATTTGTAGTAGAGACAGGATTTCTCCATGTTGGCCAGGCTGGTCTAAAACTCTCCGCCTCAGGTGACTCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCATGCCCGGCCTAAGTGTATTTTCAAAGTGCATTTTTGACTTACAATATTTTCCATTTATGATGGGTTTATCGAGAAGTAACCCCACTGTAAATCGAGGCGCATCTCCAATCTAGAAGGCAGCTACTCCTTAATAACCCCTTTCCCATAAAACATGAATCTAAATCTACAAACCTTGTTATATAATAAAGCAAGATGTACTCTGTTATGATCAGTGTGCACGTTAGAGCAAGCACTACTTTTCCGATCTTAATTATTCCAGAGATGCTTGACCAATTTACTGGGTACGTGGGCAGTTTTCTGATTGCTGTTTCCACACTCTGCTTTCCCACAGAGAGATTTCCGCAGTTAGGGGCTGCTATTTCAACGCAGGGAGATAAAAAGAAAAAAACACTTGCTCTTCTACCCCGCTAAAAACACTCATCCTAGGGAGCACGCCAGCATTTGCAGCGTTCGGGGCAGGGCCACTCGGCCTGCGGCCGTTGCACTGGCTGGAAGCTGGCAGGCGATCACGGTTGATTGGCTCGGGTGCGGTCCAAGGGCAGCAACGCCTTCGGCGGGCCGCCTAGGGTGATTGGCTGCTGCAGCCCACCCCCTAGCCGGTTTGGTGGGCGGCGAAGCCTGGATTGGTGGAGCTAAGAGCTGGCTCAGTTTCAGCGCTGGCTCTTCGTGCATGGCAGAGATGGCGACTGCGACTCGGCTGCTGGGGTGGCGTGTGGCGAGCTGGAGGCTGCGGCCGCCGCTTGCCGGCTTCGTTTCCCAGCGGGCCCACTCGCTTTTGCCCGTGGACGATGCAATCAATGGGCCAAGCGAGGAGCAGAGGCAGGTGAGGAGACTGACCCCCTTCCTGGCCCCAAGGCCTCCTTCCTGCCTGGTCCCCAAGGCCTCCTTCCTGCCTGGTCCCCATCGGCCCAGCGCCCACCCAGCCTTGGCTTTTGCCCGTGGGCCGTTGGGAGCGCCAGCGCGGGGGCGGGACGCGGGGCCTCCGACCTCGGGTCCAGTCCTCTGACCTCGGCCTCACGTCTGTGGAGTGAAGATTTGAGACCGTGGGACAGTACTGCTGGAAGTAGAGAGGAGGAGTCGAGGCTGGGAGAGCTCCTGAGAGACTGATGGTGTTTTGGTGGAGGATTGGCCAGGCTACCTACCGCTTGTGGCACAAGGGCCCTCAATCTGTATGTAGTTCACTTACACCTGAACAGGCTGAGGTATGCTTCTCACACCTGGGTGGTCATCGTAATCACCAGGGAGTCTTTTTTGTATAAACAGTTTGGGGGTTTTAAAAAGCCACAGTGAGCTCTCCTGTCGCTCTTCAGCCCATTGGGTCAAAACACAAAAGTTGAACAAGTACTTGAAAGAAGTAGTTGGAGGCCAGGCGCCGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGTGGGAGGATTGTTTGAGCTCAGGGGTTTGAGATCAGCCTAAGCAACATAGCCAGACCCCCATCTCATAAAAAATAGAAAAGAAGACGAAGTAGTATTTACAAATGGAGCAGAACCAGAGTCCTTCCTGAGGTTTCACTTGGAGGCTGGATGGAGTTGGCGGAGGTATGAGCCTCCCAGCAACTCCGTAGTTTATGTTTATAGCCAGCGAGCGCTCAGAGCTTCCGTGAACCACCTCAAGTGGAAAGGGTTCAATCCCTATTCTCAAGCTTTCCTGGCAAGAGGAGTTTCTTTTCTTTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGTAATGGCGCGATCTCCGCTCACCACAACGTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGCATGCACCACCACGCCCGGCTAATTTTGTGTTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCCAACCTCAGGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCCGCCAAGAGGCGTTTCTAATCTCTTTGGGTAATCAGACCCTTTTAGCCAAAGGTTCGGGGGCTTAAAAGAGCCTGACAACTATTGAGATCTGGCAGCTGCCTGGAATGCAGCTGGAGCACAGAGGGTGGGAGGTGGGAAGGTGCTGGGGAAGCTAGGAGAGTCAGCTGGGGTCAGCTCCTGCAGGGCCTAGTAGGCCTGGGTGAGAAGCTTGTGTTTTATTCTAAGTACAGTGGAAACCAATGGAATGATTTTTATGTAAAGTGTGACGTTTTAAAAATTACCATCAAGCTGTCTAGGCTGAAGACCTTAAGAAAGAGGGGTGAAGATCATCTCTGAGGAGGCATAAACTACTGAGGCCTCTCAGTTTCAGTCTGATGCTGTTTGGGGAAGTTACTTGTGGCCTTTTCTCTTGAATGTGTCTGGGTAGTGGAGATGCTGTCTGCAGTGGCATCTGTTTACCTCTCTCCTATTAGCTTCGTCAGACCATGGCTAAGTTCCTTCAGGAGCACCTGGCCCCCAAGGCCCAGGAGATCGATCGCAGCAATGAGTTCAAGAACCTGCGAGTGAGTTGGGAGGTCCGGGCAGTCGGGGGCAGTCAGGGAGTGGGGCTGAGCTGCACTGCTGCCTGGAAGAGCTCACACAGTTTTCTGGTAAATGAAGCCTCTCTAAGAATGCAGCCCCTCTCTCTGAAGTGTTTGGGTCTCATTGTTCCAGCCACATGTGACTGGCTGCCTTCCCCTCAACACTTATTCCACTCTGCTCCATTCTGTTGGCAGGAATTTTGGAAGCAGCTGGGGAACCTGGGCGTATTGGGCATCACAGCCCCTGGTGAGTATA
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Task1_train_20524
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This variant impacts the gene IVD (isovaleryl-CoA dehydrogenase) on Chromosome 15. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Inborn genetic diseases
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ACTCATTAACTCACGTTTTTGTAAAATATTTTAAAAATGAGTTATTCATTTTTAGCATTAATGATGCTAAGAAAAAAAAACAAAACATCTGAATCCACTGATGGAATCCCGACTCAGTAGAGAGAAGGCAGTTCTGCTTGAGTATGAGTATTTTCTCCCCTGAGGTGTAACTGAAATCTGACATGGTGGAGCACTGTGGGAGAGCCAGCACAGCCATCATGTACTAACCAGACCAGGGGCATGGATTTGTTGTTTGGGGTTTTTTTTTGTTTTTTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAGAAGGAGTCTTGGCTCTGTCACCCAGGCTAGAGTGCAGTGGCGTGATCTCAGCTCACGGCAGCCTCCACCTCCTGGGTTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCCTGCCCAGCTAAATTTTTTGTTTGTTTTTTTGAGATGGAGTGTCGCTCTTGTTGCCCAGGGCTGGAGTGCAATGGCGCGATCTTGGCTTACTGCAACCTCCGCCCCCTGGGTTCAAGTGATTCTCCTGTCTCAGCCTTCTGAGTAGCTGGGATGACAGGCACACACCGCCCAGCTAATTTTGTATTTTTAGTAGAGACAGATGGGGTTTCACCATGTTGGCCAGGCTGCTCTCGAACTCCTGACCTCAGGTGATCCACCTGTCTCAGCCTCCCAAAGTGCCAGGATTATAGGCCTGAGCCACCTTGCCTGGCCAGGGGCATGGATTTGATCAACAGTTAGGTTTGCTGTCTGCCTCAGCCATATACCACGCCTATCACTGACAGCCCAAAAAAGTGTACTTTAATTACAGGGAGCATCCAGGGAGGGGGAGCTGTGCAGCTCCTTCTTTGTTGACAGGAAAAAATTCAGCTAGCATTAAAGGCAGGTCAGTAGTGTCAACCTGTTTTCCTGCCCACACCTCCCAAGGCCATCCAGTCTCCTGGCTTTACTGGGTGGAGAGGTGCTCAGCAGCTTCTGTCACTAGCTCTGAATGGCCTGTCTCCTGGACAAAGAAGCTTTCACGGACTACTCTGCAGGGAGGTGACATTGGACCAGAGCTGACTCCACCTGGGGGAAAGAGTAATTCTCTGGTTTCTTTATAGGTGCCTGTGTAGAAAGAGTCAGGGAGGGATTGGGTGACTTCTAGACCAATTAACTTTTCTTCTTTCCCATCCAAGGGAGTCCAGAGAGGGAAGGGAAAGATCTAACAACTCTAGCCTTTGTGGTTGGCCTCGTGGATGGGGTGGGAGTCCTGGCAGCTCCACTTCTGACTGGAAGGGGTTCACTTGATCCTTTTCTTTCACCTGGAACCTTAGTTGAATAAAGGTCAAGTGACATATTTTAGTGCCTTACTTGAGAGCCATGTTTCCAAATCTAGTACCTTTGATAAAAGTGAGGAGGCTGTGGACAGCTCTCTCCCTCTGACCAGCACTTATCCTGGCAGCTGCCAACATCCTGGGCCATGAGAATAAGGGTGTCTACGTGCTGATGAGTGGGCTGGACCTGGAGCGGCTGGTGCTGGCCGGGGGGCCTCTTGGGTAAGTGTGAGAGGCTTGAGGGAAGCTGGGCTCTGTCGGCCTCCTCGGCAGGTGACCCACCATGAGCAGCAGCAGCCTTCCCCTTGCGGGGCCAAAGGGAGCTGCCTCTTGGCCCTGCTCTCTCCTGGGAGATGAAAGGAACCTCCTCTTCCCATGTTGAATTTCTTCCCACAGTGGGGAAATATCATTAAGTAACAGACAAAAGGCCTGAGGAGCAGGGTGGCTTACTCGGCTGTGAAACGACACCTGGGCTGTCACGCCCCTGCACCTCTGGCCAGTCAGTGCCGTAACTGTGGCAAGACTTTCTGAAGTTGCTTTTCTCCTCCCTGGGATTCTGGCCTTCCCACGCTAGCATTTTGCCACCACACCCGGTGGTGGGATGAGGAGGTGCCCACGGGGCCTTTCTCCTTTCTGACAGGCTCATGCAAGCGGTCCTGGACCACACCATTCCCTACCTGCACGTGAGGGAAGCCTTTGGCCAGAAGATCGGCCACTTCCAGGTGAGCCGAGTGCTTTTGCTGACATGTACTCTTCAACTGGGCTAAAGTTTTCTTTGAAAAGAGAGGAAGTGAGGTGGGCACCGTGGATGGTTACTGTCTCCTCTAGCAAATTGAGCTTGACTGCTTGGAATGCAGTCTTCCTCAGCATGCAGCCTGACTCTGGAAGTCATCAGGAAGTTCACCACATTGCCACCTCGATTCCTGTGTGAGGTGGATGAACTAGACATTGTAAGGTTGGAGAGCAAAGCGTGCAAGTTGTGGGGGCAGAAGGGAAAGAGGTTGCTATTTGTAGTTAGACCTTCTGGTCCGAAGAAGCTGCTGGAAGGTAATAAGCATTGGAGTAAATGGTGCCTTGGGAGCCATGCCTTTCGGAGGCAGTGATGGCCACTTCGGGGTGTCATGCGGGCTGTGGAACAGCCACTCTGTGGCCCTAACTCCCACACCTGCCCCCATCTCCATCATCCTGAGTAAATCCCATCTCCTCTCCATGCCCCTGCTTCCTCATCCTTGGCTGTCTTGTTGCCATTGCTGACCTGCTTTTGGTAACTGAGAGAGTGTTCCAGCATGTTGACCTGTGACATCCCTTTGTGCCCAGTTGATGCAGGGGAAGATGGCTGACATGTACACCCGCCTCATGGCGTGTCGGCAGTATGTCTACAATGTCGCCAAGGCCTGCGATGAGGGCCATTGCACTGCTAAGGTGAGGGCCAGCCTCAGTCGGGGAGAGGCGGGGGCAGTGGACCAGCTGCTGAGACTTGCTGTCTGCGTGCCTCGCAGGGCCCTGCTGACCCCAGCTTCCTCCCGTAGGACTGTGCAGGTGTGATTCTTTACTCAGCTGAGTGTGCCACACAGGTAGCCCTGGACGGCATTCAGTGTTTTGGTGAGTGATCCCCACTTCCCAGTCCCGGGGCTCCCTCACTCCTGGGGCCTGTGGCTGCTTCAGAAAGCAGTTTCAGGGCGGGCGTGGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCGAGGTAGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCGCATGCCGGGCATGATGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAACAAAGATTGCACCATTGCACTCCAGCCTAGGTGACAGAGCGAGAGGCTGTCTCAAAAAAAAGCAATTTCCTCTCCACTTCTCCACTCCTCACTATGTGCTTATGCTAGGCCCAGCTGAGCTGGGACCTTCGGGCTCTTTCTGTCCCAGTTACAAGGAGGAAATGGAAAGCAAATGAGAAAACTGCTAGATGCCAGGAGTTGCTGCTGCCTTCGGCAACACCCCCCTCTCATCCTCCCCGCCTCATAGATGCTAGGAAATGGGAAAGGGAGATGTGGCTGGGCACAGTGGCTCACACCTGTAATTCCAACACTTTAGGAGACTGAGGCCAGTGAATCACCTGAGATCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTTTCTACTAAAAATACAAAAAAAAATTAGCCAAGTGTGGTGGCAGGAGCCTGTAATCCCAGCTATTTGGAAGGCTGAGGCTGGAGAATCTCTTGAACCCAGGAGGCGGAGGTTGCAGTGACCGGAGATCGCGCCATTGCACTCCAGCCTGAGTGACAAGAGTGAAACTCCGTCTCGGAAAAAAAAAAAAAAAAAAAGGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACGTGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGCAGTGGTGCGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTTGGATGCGGAGGTTGCAGAGAGCCAATATCATGCCACTGCACTCCAGCCTAGGCCACAGAGCATGACTC
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ACTCATTAACTCACGTTTTTGTAAAATATTTTAAAAATGAGTTATTCATTTTTAGCATTAATGATGCTAAGAAAAAAAAACAAAACATCTGAATCCACTGATGGAATCCCGACTCAGTAGAGAGAAGGCAGTTCTGCTTGAGTATGAGTATTTTCTCCCCTGAGGTGTAACTGAAATCTGACATGGTGGAGCACTGTGGGAGAGCCAGCACAGCCATCATGTACTAACCAGACCAGGGGCATGGATTTGTTGTTTGGGGTTTTTTTTTGTTTTTTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAGAAGGAGTCTTGGCTCTGTCACCCAGGCTAGAGTGCAGTGGCGTGATCTCAGCTCACGGCAGCCTCCACCTCCTGGGTTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCCTGCCCAGCTAAATTTTTTGTTTGTTTTTTTGAGATGGAGTGTCGCTCTTGTTGCCCAGGGCTGGAGTGCAATGGCGCGATCTTGGCTTACTGCAACCTCCGCCCCCTGGGTTCAAGTGATTCTCCTGTCTCAGCCTTCTGAGTAGCTGGGATGACAGGCACACACCGCCCAGCTAATTTTGTATTTTTAGTAGAGACAGATGGGGTTTCACCATGTTGGCCAGGCTGCTCTCGAACTCCTGACCTCAGGTGATCCACCTGTCTCAGCCTCCCAAAGTGCCAGGATTATAGGCCTGAGCCACCTTGCCTGGCCAGGGGCATGGATTTGATCAACAGTTAGGTTTGCTGTCTGCCTCAGCCATATACCACGCCTATCACTGACAGCCCAAAAAAGTGTACTTTAATTACAGGGAGCATCCAGGGAGGGGGAGCTGTGCAGCTCCTTCTTTGTTGACAGGAAAAAATTCAGCTAGCATTAAAGGCAGGTCAGTAGTGTCAACCTGTTTTCCTGCCCACACCTCCCAAGGCCATCCAGTCTCCTGGCTTTACTGGGTGGAGAGGTGCTCAGCAGCTTCTGTCACTAGCTCTGAATGGCCTGTCTCCTGGACAAAGAAGCTTTCACGGACTACTCTGCAGGGAGGTGACATTGGACCAGAGCTGACTCCACCTGGGGGAAAGAGTAATTCTCTGGTTTCTTTATAGGTGCCTGTGTAGAAAGAGTCAGGGAGGGATTGGGTGACTTCTAGACCAATTAACTTTTCTTCTTTCCCATCCAAGGGAGTCCAGAGAGGGAAGGGAAAGATCTAACAACTCTAGCCTTTGTGGTTGGCCTCGTGGATGGGGTGGGAGTCCTGGCAGCTCCACTTCTGACTGGAAGGGGTTCACTTGATCCTTTTCTTTCACCTGGAACCTTAGTTGAATAAAGGTCAAGTGACATATTTTAGTGCCTTACTTGAGAGCCATGTTTCCAAATCTAGTACCTTTGATAAAAGTGAGGAGGCTGTGGACAGCTCTCTCCCTCTGACCAGCACTTATCCTGGCAGCTGCCAACATCCTGGGCCATGAGAATAAGGGTGTCTACGTGCTGATGAGTGGGCTGGACCTGGAGCGGCTGGTGCTGGCCGGGGGGCCTCTTGGGTAAGTGTGAGAGGCTTGAGGGAAGCTGGGCTCTGTCGGCCTCCTCGGCAGGTGACCCACCATGAGCAGCAGCAGCCTTCCCCTTGCGGGGCCAAAGGGAGCTGCCTCTTGGCCCTGCTCTCTCCTGGGAGATGAAAGGAACCTCCTCTTCCCATGTTGAATTTCTTCCCACAGTGGGGAAATATCATTAAGTAACAGACAAAAGGCCTGAGGAGCAGGGTGGCTTACTCGGCTGTGAAACGACACCTGGGCTGTCACGCCCCTGCACCTCTGGCCAGTCAGTGCCGTAACTGTGGCAAGACTTTCTGAAGTTGCTTTTCTCCTCCCTGGGATTCTGGCCTTCCCACGCTAGCATTTTGCCACCACACCCGGTGGTGGGATGAGGAGGTGCCCACGGGGCCTTTCTCCTTTCTGACAGGCTCATGCAAGCGGTCCTGGACCACACCATTCCCTACCTGCACGTGAGGGAAGTCTTTGGCCAGAAGATCGGCCACTTCCAGGTGAGCCGAGTGCTTTTGCTGACATGTACTCTTCAACTGGGCTAAAGTTTTCTTTGAAAAGAGAGGAAGTGAGGTGGGCACCGTGGATGGTTACTGTCTCCTCTAGCAAATTGAGCTTGACTGCTTGGAATGCAGTCTTCCTCAGCATGCAGCCTGACTCTGGAAGTCATCAGGAAGTTCACCACATTGCCACCTCGATTCCTGTGTGAGGTGGATGAACTAGACATTGTAAGGTTGGAGAGCAAAGCGTGCAAGTTGTGGGGGCAGAAGGGAAAGAGGTTGCTATTTGTAGTTAGACCTTCTGGTCCGAAGAAGCTGCTGGAAGGTAATAAGCATTGGAGTAAATGGTGCCTTGGGAGCCATGCCTTTCGGAGGCAGTGATGGCCACTTCGGGGTGTCATGCGGGCTGTGGAACAGCCACTCTGTGGCCCTAACTCCCACACCTGCCCCCATCTCCATCATCCTGAGTAAATCCCATCTCCTCTCCATGCCCCTGCTTCCTCATCCTTGGCTGTCTTGTTGCCATTGCTGACCTGCTTTTGGTAACTGAGAGAGTGTTCCAGCATGTTGACCTGTGACATCCCTTTGTGCCCAGTTGATGCAGGGGAAGATGGCTGACATGTACACCCGCCTCATGGCGTGTCGGCAGTATGTCTACAATGTCGCCAAGGCCTGCGATGAGGGCCATTGCACTGCTAAGGTGAGGGCCAGCCTCAGTCGGGGAGAGGCGGGGGCAGTGGACCAGCTGCTGAGACTTGCTGTCTGCGTGCCTCGCAGGGCCCTGCTGACCCCAGCTTCCTCCCGTAGGACTGTGCAGGTGTGATTCTTTACTCAGCTGAGTGTGCCACACAGGTAGCCCTGGACGGCATTCAGTGTTTTGGTGAGTGATCCCCACTTCCCAGTCCCGGGGCTCCCTCACTCCTGGGGCCTGTGGCTGCTTCAGAAAGCAGTTTCAGGGCGGGCGTGGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCGAGGTAGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCGCATGCCGGGCATGATGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAACAAAGATTGCACCATTGCACTCCAGCCTAGGTGACAGAGCGAGAGGCTGTCTCAAAAAAAAGCAATTTCCTCTCCACTTCTCCACTCCTCACTATGTGCTTATGCTAGGCCCAGCTGAGCTGGGACCTTCGGGCTCTTTCTGTCCCAGTTACAAGGAGGAAATGGAAAGCAAATGAGAAAACTGCTAGATGCCAGGAGTTGCTGCTGCCTTCGGCAACACCCCCCTCTCATCCTCCCCGCCTCATAGATGCTAGGAAATGGGAAAGGGAGATGTGGCTGGGCACAGTGGCTCACACCTGTAATTCCAACACTTTAGGAGACTGAGGCCAGTGAATCACCTGAGATCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTTTCTACTAAAAATACAAAAAAAAATTAGCCAAGTGTGGTGGCAGGAGCCTGTAATCCCAGCTATTTGGAAGGCTGAGGCTGGAGAATCTCTTGAACCCAGGAGGCGGAGGTTGCAGTGACCGGAGATCGCGCCATTGCACTCCAGCCTGAGTGACAAGAGTGAAACTCCGTCTCGGAAAAAAAAAAAAAAAAAAAGGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACGTGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGCAGTGGTGCGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTTGGATGCGGAGGTTGCAGAGAGCCAATATCATGCCACTGCACTCCAGCCTAGGCCACAGAGCATGACTC
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Task1_train_20525
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This variant impacts the gene IVD (isovaleryl-CoA dehydrogenase) on Chromosome 15. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Isovaleryl-CoA dehydrogenase deficiency
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ACTCATTAACTCACGTTTTTGTAAAATATTTTAAAAATGAGTTATTCATTTTTAGCATTAATGATGCTAAGAAAAAAAAACAAAACATCTGAATCCACTGATGGAATCCCGACTCAGTAGAGAGAAGGCAGTTCTGCTTGAGTATGAGTATTTTCTCCCCTGAGGTGTAACTGAAATCTGACATGGTGGAGCACTGTGGGAGAGCCAGCACAGCCATCATGTACTAACCAGACCAGGGGCATGGATTTGTTGTTTGGGGTTTTTTTTTGTTTTTTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAGAAGGAGTCTTGGCTCTGTCACCCAGGCTAGAGTGCAGTGGCGTGATCTCAGCTCACGGCAGCCTCCACCTCCTGGGTTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCCTGCCCAGCTAAATTTTTTGTTTGTTTTTTTGAGATGGAGTGTCGCTCTTGTTGCCCAGGGCTGGAGTGCAATGGCGCGATCTTGGCTTACTGCAACCTCCGCCCCCTGGGTTCAAGTGATTCTCCTGTCTCAGCCTTCTGAGTAGCTGGGATGACAGGCACACACCGCCCAGCTAATTTTGTATTTTTAGTAGAGACAGATGGGGTTTCACCATGTTGGCCAGGCTGCTCTCGAACTCCTGACCTCAGGTGATCCACCTGTCTCAGCCTCCCAAAGTGCCAGGATTATAGGCCTGAGCCACCTTGCCTGGCCAGGGGCATGGATTTGATCAACAGTTAGGTTTGCTGTCTGCCTCAGCCATATACCACGCCTATCACTGACAGCCCAAAAAAGTGTACTTTAATTACAGGGAGCATCCAGGGAGGGGGAGCTGTGCAGCTCCTTCTTTGTTGACAGGAAAAAATTCAGCTAGCATTAAAGGCAGGTCAGTAGTGTCAACCTGTTTTCCTGCCCACACCTCCCAAGGCCATCCAGTCTCCTGGCTTTACTGGGTGGAGAGGTGCTCAGCAGCTTCTGTCACTAGCTCTGAATGGCCTGTCTCCTGGACAAAGAAGCTTTCACGGACTACTCTGCAGGGAGGTGACATTGGACCAGAGCTGACTCCACCTGGGGGAAAGAGTAATTCTCTGGTTTCTTTATAGGTGCCTGTGTAGAAAGAGTCAGGGAGGGATTGGGTGACTTCTAGACCAATTAACTTTTCTTCTTTCCCATCCAAGGGAGTCCAGAGAGGGAAGGGAAAGATCTAACAACTCTAGCCTTTGTGGTTGGCCTCGTGGATGGGGTGGGAGTCCTGGCAGCTCCACTTCTGACTGGAAGGGGTTCACTTGATCCTTTTCTTTCACCTGGAACCTTAGTTGAATAAAGGTCAAGTGACATATTTTAGTGCCTTACTTGAGAGCCATGTTTCCAAATCTAGTACCTTTGATAAAAGTGAGGAGGCTGTGGACAGCTCTCTCCCTCTGACCAGCACTTATCCTGGCAGCTGCCAACATCCTGGGCCATGAGAATAAGGGTGTCTACGTGCTGATGAGTGGGCTGGACCTGGAGCGGCTGGTGCTGGCCGGGGGGCCTCTTGGGTAAGTGTGAGAGGCTTGAGGGAAGCTGGGCTCTGTCGGCCTCCTCGGCAGGTGACCCACCATGAGCAGCAGCAGCCTTCCCCTTGCGGGGCCAAAGGGAGCTGCCTCTTGGCCCTGCTCTCTCCTGGGAGATGAAAGGAACCTCCTCTTCCCATGTTGAATTTCTTCCCACAGTGGGGAAATATCATTAAGTAACAGACAAAAGGCCTGAGGAGCAGGGTGGCTTACTCGGCTGTGAAACGACACCTGGGCTGTCACGCCCCTGCACCTCTGGCCAGTCAGTGCCGTAACTGTGGCAAGACTTTCTGAAGTTGCTTTTCTCCTCCCTGGGATTCTGGCCTTCCCACGCTAGCATTTTGCCACCACACCCGGTGGTGGGATGAGGAGGTGCCCACGGGGCCTTTCTCCTTTCTGACAGGCTCATGCAAGCGGTCCTGGACCACACCATTCCCTACCTGCACGTGAGGGAAGCCTTTGGCCAGAAGATCGGCCACTTCCAGGTGAGCCGAGTGCTTTTGCTGACATGTACTCTTCAACTGGGCTAAAGTTTTCTTTGAAAAGAGAGGAAGTGAGGTGGGCACCGTGGATGGTTACTGTCTCCTCTAGCAAATTGAGCTTGACTGCTTGGAATGCAGTCTTCCTCAGCATGCAGCCTGACTCTGGAAGTCATCAGGAAGTTCACCACATTGCCACCTCGATTCCTGTGTGAGGTGGATGAACTAGACATTGTAAGGTTGGAGAGCAAAGCGTGCAAGTTGTGGGGGCAGAAGGGAAAGAGGTTGCTATTTGTAGTTAGACCTTCTGGTCCGAAGAAGCTGCTGGAAGGTAATAAGCATTGGAGTAAATGGTGCCTTGGGAGCCATGCCTTTCGGAGGCAGTGATGGCCACTTCGGGGTGTCATGCGGGCTGTGGAACAGCCACTCTGTGGCCCTAACTCCCACACCTGCCCCCATCTCCATCATCCTGAGTAAATCCCATCTCCTCTCCATGCCCCTGCTTCCTCATCCTTGGCTGTCTTGTTGCCATTGCTGACCTGCTTTTGGTAACTGAGAGAGTGTTCCAGCATGTTGACCTGTGACATCCCTTTGTGCCCAGTTGATGCAGGGGAAGATGGCTGACATGTACACCCGCCTCATGGCGTGTCGGCAGTATGTCTACAATGTCGCCAAGGCCTGCGATGAGGGCCATTGCACTGCTAAGGTGAGGGCCAGCCTCAGTCGGGGAGAGGCGGGGGCAGTGGACCAGCTGCTGAGACTTGCTGTCTGCGTGCCTCGCAGGGCCCTGCTGACCCCAGCTTCCTCCCGTAGGACTGTGCAGGTGTGATTCTTTACTCAGCTGAGTGTGCCACACAGGTAGCCCTGGACGGCATTCAGTGTTTTGGTGAGTGATCCCCACTTCCCAGTCCCGGGGCTCCCTCACTCCTGGGGCCTGTGGCTGCTTCAGAAAGCAGTTTCAGGGCGGGCGTGGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCGAGGTAGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCGCATGCCGGGCATGATGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAACAAAGATTGCACCATTGCACTCCAGCCTAGGTGACAGAGCGAGAGGCTGTCTCAAAAAAAAGCAATTTCCTCTCCACTTCTCCACTCCTCACTATGTGCTTATGCTAGGCCCAGCTGAGCTGGGACCTTCGGGCTCTTTCTGTCCCAGTTACAAGGAGGAAATGGAAAGCAAATGAGAAAACTGCTAGATGCCAGGAGTTGCTGCTGCCTTCGGCAACACCCCCCTCTCATCCTCCCCGCCTCATAGATGCTAGGAAATGGGAAAGGGAGATGTGGCTGGGCACAGTGGCTCACACCTGTAATTCCAACACTTTAGGAGACTGAGGCCAGTGAATCACCTGAGATCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTTTCTACTAAAAATACAAAAAAAAATTAGCCAAGTGTGGTGGCAGGAGCCTGTAATCCCAGCTATTTGGAAGGCTGAGGCTGGAGAATCTCTTGAACCCAGGAGGCGGAGGTTGCAGTGACCGGAGATCGCGCCATTGCACTCCAGCCTGAGTGACAAGAGTGAAACTCCGTCTCGGAAAAAAAAAAAAAAAAAAAGGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACGTGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGCAGTGGTGCGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTTGGATGCGGAGGTTGCAGAGAGCCAATATCATGCCACTGCACTCCAGCCTAGGCCACAGAGCATGACTC
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ACTCATTAACTCACGTTTTTGTAAAATATTTTAAAAATGAGTTATTCATTTTTAGCATTAATGATGCTAAGAAAAAAAAACAAAACATCTGAATCCACTGATGGAATCCCGACTCAGTAGAGAGAAGGCAGTTCTGCTTGAGTATGAGTATTTTCTCCCCTGAGGTGTAACTGAAATCTGACATGGTGGAGCACTGTGGGAGAGCCAGCACAGCCATCATGTACTAACCAGACCAGGGGCATGGATTTGTTGTTTGGGGTTTTTTTTTGTTTTTTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAGAAGGAGTCTTGGCTCTGTCACCCAGGCTAGAGTGCAGTGGCGTGATCTCAGCTCACGGCAGCCTCCACCTCCTGGGTTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCCTGCCCAGCTAAATTTTTTGTTTGTTTTTTTGAGATGGAGTGTCGCTCTTGTTGCCCAGGGCTGGAGTGCAATGGCGCGATCTTGGCTTACTGCAACCTCCGCCCCCTGGGTTCAAGTGATTCTCCTGTCTCAGCCTTCTGAGTAGCTGGGATGACAGGCACACACCGCCCAGCTAATTTTGTATTTTTAGTAGAGACAGATGGGGTTTCACCATGTTGGCCAGGCTGCTCTCGAACTCCTGACCTCAGGTGATCCACCTGTCTCAGCCTCCCAAAGTGCCAGGATTATAGGCCTGAGCCACCTTGCCTGGCCAGGGGCATGGATTTGATCAACAGTTAGGTTTGCTGTCTGCCTCAGCCATATACCACGCCTATCACTGACAGCCCAAAAAAGTGTACTTTAATTACAGGGAGCATCCAGGGAGGGGGAGCTGTGCAGCTCCTTCTTTGTTGACAGGAAAAAATTCAGCTAGCATTAAAGGCAGGTCAGTAGTGTCAACCTGTTTTCCTGCCCACACCTCCCAAGGCCATCCAGTCTCCTGGCTTTACTGGGTGGAGAGGTGCTCAGCAGCTTCTGTCACTAGCTCTGAATGGCCTGTCTCCTGGACAAAGAAGCTTTCACGGACTACTCTGCAGGGAGGTGACATTGGACCAGAGCTGACTCCACCTGGGGGAAAGAGTAATTCTCTGGTTTCTTTATAGGTGCCTGTGTAGAAAGAGTCAGGGAGGGATTGGGTGACTTCTAGACCAATTAACTTTTCTTCTTTCCCATCCAAGGGAGTCCAGAGAGGGAAGGGAAAGATCTAACAACTCTAGCCTTTGTGGTTGGCCTCGTGGATGGGGTGGGAGTCCTGGCAGCTCCACTTCTGACTGGAAGGGGTTCACTTGATCCTTTTCTTTCACCTGGAACCTTAGTTGAATAAAGGTCAAGTGACATATTTTAGTGCCTTACTTGAGAGCCATGTTTCCAAATCTAGTACCTTTGATAAAAGTGAGGAGGCTGTGGACAGCTCTCTCCCTCTGACCAGCACTTATCCTGGCAGCTGCCAACATCCTGGGCCATGAGAATAAGGGTGTCTACGTGCTGATGAGTGGGCTGGACCTGGAGCGGCTGGTGCTGGCCGGGGGGCCTCTTGGGTAAGTGTGAGAGGCTTGAGGGAAGCTGGGCTCTGTCGGCCTCCTCGGCAGGTGACCCACCATGAGCAGCAGCAGCCTTCCCCTTGCGGGGCCAAAGGGAGCTGCCTCTTGGCCCTGCTCTCTCCTGGGAGATGAAAGGAACCTCCTCTTCCCATGTTGAATTTCTTCCCACAGTGGGGAAATATCATTAAGTAACAGACAAAAGGCCTGAGGAGCAGGGTGGCTTACTCGGCTGTGAAACGACACCTGGGCTGTCACGCCCCTGCACCTCTGGCCAGTCAGTGCCGTAACTGTGGCAAGACTTTCTGAAGTTGCTTTTCTCCTCCCTGGGATTCTGGCCTTCCCACGCTAGCATTTTGCCACCACACCCGGTGGTGGGATGAGGAGGTGCCCACGGGGCCTTTCTCCTTTCTGACAGGCTCATGCAAGCGGTCCTGGACCACACCATTCCCTACCTGCACGTGAGGGAAGTCTTTGGCCAGAAGATCGGCCACTTCCAGGTGAGCCGAGTGCTTTTGCTGACATGTACTCTTCAACTGGGCTAAAGTTTTCTTTGAAAAGAGAGGAAGTGAGGTGGGCACCGTGGATGGTTACTGTCTCCTCTAGCAAATTGAGCTTGACTGCTTGGAATGCAGTCTTCCTCAGCATGCAGCCTGACTCTGGAAGTCATCAGGAAGTTCACCACATTGCCACCTCGATTCCTGTGTGAGGTGGATGAACTAGACATTGTAAGGTTGGAGAGCAAAGCGTGCAAGTTGTGGGGGCAGAAGGGAAAGAGGTTGCTATTTGTAGTTAGACCTTCTGGTCCGAAGAAGCTGCTGGAAGGTAATAAGCATTGGAGTAAATGGTGCCTTGGGAGCCATGCCTTTCGGAGGCAGTGATGGCCACTTCGGGGTGTCATGCGGGCTGTGGAACAGCCACTCTGTGGCCCTAACTCCCACACCTGCCCCCATCTCCATCATCCTGAGTAAATCCCATCTCCTCTCCATGCCCCTGCTTCCTCATCCTTGGCTGTCTTGTTGCCATTGCTGACCTGCTTTTGGTAACTGAGAGAGTGTTCCAGCATGTTGACCTGTGACATCCCTTTGTGCCCAGTTGATGCAGGGGAAGATGGCTGACATGTACACCCGCCTCATGGCGTGTCGGCAGTATGTCTACAATGTCGCCAAGGCCTGCGATGAGGGCCATTGCACTGCTAAGGTGAGGGCCAGCCTCAGTCGGGGAGAGGCGGGGGCAGTGGACCAGCTGCTGAGACTTGCTGTCTGCGTGCCTCGCAGGGCCCTGCTGACCCCAGCTTCCTCCCGTAGGACTGTGCAGGTGTGATTCTTTACTCAGCTGAGTGTGCCACACAGGTAGCCCTGGACGGCATTCAGTGTTTTGGTGAGTGATCCCCACTTCCCAGTCCCGGGGCTCCCTCACTCCTGGGGCCTGTGGCTGCTTCAGAAAGCAGTTTCAGGGCGGGCGTGGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCGAGGTAGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCGCATGCCGGGCATGATGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAACAAAGATTGCACCATTGCACTCCAGCCTAGGTGACAGAGCGAGAGGCTGTCTCAAAAAAAAGCAATTTCCTCTCCACTTCTCCACTCCTCACTATGTGCTTATGCTAGGCCCAGCTGAGCTGGGACCTTCGGGCTCTTTCTGTCCCAGTTACAAGGAGGAAATGGAAAGCAAATGAGAAAACTGCTAGATGCCAGGAGTTGCTGCTGCCTTCGGCAACACCCCCCTCTCATCCTCCCCGCCTCATAGATGCTAGGAAATGGGAAAGGGAGATGTGGCTGGGCACAGTGGCTCACACCTGTAATTCCAACACTTTAGGAGACTGAGGCCAGTGAATCACCTGAGATCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTTTCTACTAAAAATACAAAAAAAAATTAGCCAAGTGTGGTGGCAGGAGCCTGTAATCCCAGCTATTTGGAAGGCTGAGGCTGGAGAATCTCTTGAACCCAGGAGGCGGAGGTTGCAGTGACCGGAGATCGCGCCATTGCACTCCAGCCTGAGTGACAAGAGTGAAACTCCGTCTCGGAAAAAAAAAAAAAAAAAAAGGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACGTGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGCAGTGGTGCGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTTGGATGCGGAGGTTGCAGAGAGCCAATATCATGCCACTGCACTCCAGCCTAGGCCACAGAGCATGACTC
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Task1_train_20526
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Consider a variant on Chromosome 15 in gene IVD (isovaleryl-CoA dehydrogenase). Determine its clinical classification and disease relevance.
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Pathogenic; Isovaleryl-CoA dehydrogenase deficiency
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CGAACTCCTGACCTCAGGTGATCCACCTGTCTCAGCCTCCCAAAGTGCCAGGATTATAGGCCTGAGCCACCTTGCCTGGCCAGGGGCATGGATTTGATCAACAGTTAGGTTTGCTGTCTGCCTCAGCCATATACCACGCCTATCACTGACAGCCCAAAAAAGTGTACTTTAATTACAGGGAGCATCCAGGGAGGGGGAGCTGTGCAGCTCCTTCTTTGTTGACAGGAAAAAATTCAGCTAGCATTAAAGGCAGGTCAGTAGTGTCAACCTGTTTTCCTGCCCACACCTCCCAAGGCCATCCAGTCTCCTGGCTTTACTGGGTGGAGAGGTGCTCAGCAGCTTCTGTCACTAGCTCTGAATGGCCTGTCTCCTGGACAAAGAAGCTTTCACGGACTACTCTGCAGGGAGGTGACATTGGACCAGAGCTGACTCCACCTGGGGGAAAGAGTAATTCTCTGGTTTCTTTATAGGTGCCTGTGTAGAAAGAGTCAGGGAGGGATTGGGTGACTTCTAGACCAATTAACTTTTCTTCTTTCCCATCCAAGGGAGTCCAGAGAGGGAAGGGAAAGATCTAACAACTCTAGCCTTTGTGGTTGGCCTCGTGGATGGGGTGGGAGTCCTGGCAGCTCCACTTCTGACTGGAAGGGGTTCACTTGATCCTTTTCTTTCACCTGGAACCTTAGTTGAATAAAGGTCAAGTGACATATTTTAGTGCCTTACTTGAGAGCCATGTTTCCAAATCTAGTACCTTTGATAAAAGTGAGGAGGCTGTGGACAGCTCTCTCCCTCTGACCAGCACTTATCCTGGCAGCTGCCAACATCCTGGGCCATGAGAATAAGGGTGTCTACGTGCTGATGAGTGGGCTGGACCTGGAGCGGCTGGTGCTGGCCGGGGGGCCTCTTGGGTAAGTGTGAGAGGCTTGAGGGAAGCTGGGCTCTGTCGGCCTCCTCGGCAGGTGACCCACCATGAGCAGCAGCAGCCTTCCCCTTGCGGGGCCAAAGGGAGCTGCCTCTTGGCCCTGCTCTCTCCTGGGAGATGAAAGGAACCTCCTCTTCCCATGTTGAATTTCTTCCCACAGTGGGGAAATATCATTAAGTAACAGACAAAAGGCCTGAGGAGCAGGGTGGCTTACTCGGCTGTGAAACGACACCTGGGCTGTCACGCCCCTGCACCTCTGGCCAGTCAGTGCCGTAACTGTGGCAAGACTTTCTGAAGTTGCTTTTCTCCTCCCTGGGATTCTGGCCTTCCCACGCTAGCATTTTGCCACCACACCCGGTGGTGGGATGAGGAGGTGCCCACGGGGCCTTTCTCCTTTCTGACAGGCTCATGCAAGCGGTCCTGGACCACACCATTCCCTACCTGCACGTGAGGGAAGCCTTTGGCCAGAAGATCGGCCACTTCCAGGTGAGCCGAGTGCTTTTGCTGACATGTACTCTTCAACTGGGCTAAAGTTTTCTTTGAAAAGAGAGGAAGTGAGGTGGGCACCGTGGATGGTTACTGTCTCCTCTAGCAAATTGAGCTTGACTGCTTGGAATGCAGTCTTCCTCAGCATGCAGCCTGACTCTGGAAGTCATCAGGAAGTTCACCACATTGCCACCTCGATTCCTGTGTGAGGTGGATGAACTAGACATTGTAAGGTTGGAGAGCAAAGCGTGCAAGTTGTGGGGGCAGAAGGGAAAGAGGTTGCTATTTGTAGTTAGACCTTCTGGTCCGAAGAAGCTGCTGGAAGGTAATAAGCATTGGAGTAAATGGTGCCTTGGGAGCCATGCCTTTCGGAGGCAGTGATGGCCACTTCGGGGTGTCATGCGGGCTGTGGAACAGCCACTCTGTGGCCCTAACTCCCACACCTGCCCCCATCTCCATCATCCTGAGTAAATCCCATCTCCTCTCCATGCCCCTGCTTCCTCATCCTTGGCTGTCTTGTTGCCATTGCTGACCTGCTTTTGGTAACTGAGAGAGTGTTCCAGCATGTTGACCTGTGACATCCCTTTGTGCCCAGTTGATGCAGGGGAAGATGGCTGACATGTACACCCGCCTCATGGCGTGTCGGCAGTATGTCTACAATGTCGCCAAGGCCTGCGATGAGGGCCATTGCACTGCTAAGGTGAGGGCCAGCCTCAGTCGGGGAGAGGCGGGGGCAGTGGACCAGCTGCTGAGACTTGCTGTCTGCGTGCCTCGCAGGGCCCTGCTGACCCCAGCTTCCTCCCGTAGGACTGTGCAGGTGTGATTCTTTACTCAGCTGAGTGTGCCACACAGGTAGCCCTGGACGGCATTCAGTGTTTTGGTGAGTGATCCCCACTTCCCAGTCCCGGGGCTCCCTCACTCCTGGGGCCTGTGGCTGCTTCAGAAAGCAGTTTCAGGGCGGGCGTGGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCGAGGTAGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCGCATGCCGGGCATGATGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAACAAAGATTGCACCATTGCACTCCAGCCTAGGTGACAGAGCGAGAGGCTGTCTCAAAAAAAAGCAATTTCCTCTCCACTTCTCCACTCCTCACTATGTGCTTATGCTAGGCCCAGCTGAGCTGGGACCTTCGGGCTCTTTCTGTCCCAGTTACAAGGAGGAAATGGAAAGCAAATGAGAAAACTGCTAGATGCCAGGAGTTGCTGCTGCCTTCGGCAACACCCCCCTCTCATCCTCCCCGCCTCATAGATGCTAGGAAATGGGAAAGGGAGATGTGGCTGGGCACAGTGGCTCACACCTGTAATTCCAACACTTTAGGAGACTGAGGCCAGTGAATCACCTGAGATCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTTTCTACTAAAAATACAAAAAAAAATTAGCCAAGTGTGGTGGCAGGAGCCTGTAATCCCAGCTATTTGGAAGGCTGAGGCTGGAGAATCTCTTGAACCCAGGAGGCGGAGGTTGCAGTGACCGGAGATCGCGCCATTGCACTCCAGCCTGAGTGACAAGAGTGAAACTCCGTCTCGGAAAAAAAAAAAAAAAAAAAGGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACGTGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGCAGTGGTGCGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTTGGATGCGGAGGTTGCAGAGAGCCAATATCATGCCACTGCACTCCAGCCTAGGCCACAGAGCATGACTCCAAAAAAAAAAAAAAAAAAGCTAAATGGAAATTTCTAGAAATAGTTCATAAGTTTCAAATCCACACCATCCTGAATAGCTTGAAGTGTTGTGCCATGCTGCTCTGTCATGTTTGGTACGTGAATCGTCCCTTTGTGCAGCCTATCTATGCTATGTGGGCTACCTGCCCGTTAGTAGTCACCTAGGGTATCCAATCAGCTGTCCTGATATCAGAGTGCCTGTGTTCAAGTAACTCTTATTTTGCTCAGTGGCCCCAGATTGCAAGAGTAGTGATGCTGGCATGTCATAATAGTTCTATTTTAGTATTTGTTATTATTGTTGATCTGTTACTATGCCTAGCTCATAAATTAAACTTTCTCATAAGTATGTATGTATAGGGAAAAAAACAACATATATATGGGGTTCGGTACTATCTACGGTTTCAGGCATCCACTGGGGTCTTGGAATGTATCCTCCAAGGATAAGGAAGGACTAGTGTATTCCCCACACCCCTCCCTCTTGCTACCTTTTGCTGCTTTTCTTTAATCACCCTCTCCTCCTGTGGCCTGTTTCTATATACTTGGCATTCTGTTTGCTTTCTTTGTTTTGTCAATCACTTCCTTTCTTCTCTGCCCAAACCCTGGTTGCAGGTGGCAATGGCTACATCAATGACTTTCCCATGGGCCGCTTTCTT
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CGAACTCCTGACCTCAGGTGATCCACCTGTCTCAGCCTCCCAAAGTGCCAGGATTATAGGCCTGAGCCACCTTGCCTGGCCAGGGGCATGGATTTGATCAACAGTTAGGTTTGCTGTCTGCCTCAGCCATATACCACGCCTATCACTGACAGCCCAAAAAAGTGTACTTTAATTACAGGGAGCATCCAGGGAGGGGGAGCTGTGCAGCTCCTTCTTTGTTGACAGGAAAAAATTCAGCTAGCATTAAAGGCAGGTCAGTAGTGTCAACCTGTTTTCCTGCCCACACCTCCCAAGGCCATCCAGTCTCCTGGCTTTACTGGGTGGAGAGGTGCTCAGCAGCTTCTGTCACTAGCTCTGAATGGCCTGTCTCCTGGACAAAGAAGCTTTCACGGACTACTCTGCAGGGAGGTGACATTGGACCAGAGCTGACTCCACCTGGGGGAAAGAGTAATTCTCTGGTTTCTTTATAGGTGCCTGTGTAGAAAGAGTCAGGGAGGGATTGGGTGACTTCTAGACCAATTAACTTTTCTTCTTTCCCATCCAAGGGAGTCCAGAGAGGGAAGGGAAAGATCTAACAACTCTAGCCTTTGTGGTTGGCCTCGTGGATGGGGTGGGAGTCCTGGCAGCTCCACTTCTGACTGGAAGGGGTTCACTTGATCCTTTTCTTTCACCTGGAACCTTAGTTGAATAAAGGTCAAGTGACATATTTTAGTGCCTTACTTGAGAGCCATGTTTCCAAATCTAGTACCTTTGATAAAAGTGAGGAGGCTGTGGACAGCTCTCTCCCTCTGACCAGCACTTATCCTGGCAGCTGCCAACATCCTGGGCCATGAGAATAAGGGTGTCTACGTGCTGATGAGTGGGCTGGACCTGGAGCGGCTGGTGCTGGCCGGGGGGCCTCTTGGGTAAGTGTGAGAGGCTTGAGGGAAGCTGGGCTCTGTCGGCCTCCTCGGCAGGTGACCCACCATGAGCAGCAGCAGCCTTCCCCTTGCGGGGCCAAAGGGAGCTGCCTCTTGGCCCTGCTCTCTCCTGGGAGATGAAAGGAACCTCCTCTTCCCATGTTGAATTTCTTCCCACAGTGGGGAAATATCATTAAGTAACAGACAAAAGGCCTGAGGAGCAGGGTGGCTTACTCGGCTGTGAAACGACACCTGGGCTGTCACGCCCCTGCACCTCTGGCCAGTCAGTGCCGTAACTGTGGCAAGACTTTCTGAAGTTGCTTTTCTCCTCCCTGGGATTCTGGCCTTCCCACGCTAGCATTTTGCCACCACACCCGGTGGTGGGATGAGGAGGTGCCCACGGGGCCTTTCTCCTTTCTGACAGGCTCATGCAAGCGGTCCTGGACCACACCATTCCCTACCTGCACGTGAGGGAAGCCTTTGGCCAGAAGATCGGCCACTTCCAGGTGAGCCGAGTGCTTTTGCTGACATGTACTCTTCAACTGGGCTAAAGTTTTCTTTGAAAAGAGAGGAAGTGAGGTGGGCACCGTGGATGGTTACTGTCTCCTCTAGCAAATTGAGCTTGACTGCTTGGAATGCAGTCTTCCTCAGCATGCAGCCTGACTCTGGAAGTCATCAGGAAGTTCACCACATTGCCACCTCGATTCCTGTGTGAGGTGGATGAACTAGACATTGTAAGGTTGGAGAGCAAAGCGTGCAAGTTGTGGGGGCAGAAGGGAAAGAGGTTGCTATTTGTAGTTAGACCTTCTGGTCCGAAGAAGCTGCTGGAAGGTAATAAGCATTGGAGTAAATGGTGCCTTGGGAGCCATGCCTTTCGGAGGCAGTGATGGCCACTTCGGGGTGTCATGCGGGCTGTGGAACAGCCACTCTGTGGCCCTAACTCCCACACCTGCCCCCATCTCCATCATCCTGAGTAAATCCCATCTCCTCTCCATGCCCCTGCTTCCTCATCCTTGGCTGTCTTGTTGCCATTGCTGACCTGCTTTTGGTAACTGAGAGAGTGTTCCAGCATGTTGACCTGTGACATCCCTTTGTGCCCAGTTGATGCAGGGGAAGATGGCTGACATGTACACCCGCCTCATGGCGTGTGGGCAGTATGTCTACAATGTCGCCAAGGCCTGCGATGAGGGCCATTGCACTGCTAAGGTGAGGGCCAGCCTCAGTCGGGGAGAGGCGGGGGCAGTGGACCAGCTGCTGAGACTTGCTGTCTGCGTGCCTCGCAGGGCCCTGCTGACCCCAGCTTCCTCCCGTAGGACTGTGCAGGTGTGATTCTTTACTCAGCTGAGTGTGCCACACAGGTAGCCCTGGACGGCATTCAGTGTTTTGGTGAGTGATCCCCACTTCCCAGTCCCGGGGCTCCCTCACTCCTGGGGCCTGTGGCTGCTTCAGAAAGCAGTTTCAGGGCGGGCGTGGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCGAGGTAGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCGCATGCCGGGCATGATGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAACAAAGATTGCACCATTGCACTCCAGCCTAGGTGACAGAGCGAGAGGCTGTCTCAAAAAAAAGCAATTTCCTCTCCACTTCTCCACTCCTCACTATGTGCTTATGCTAGGCCCAGCTGAGCTGGGACCTTCGGGCTCTTTCTGTCCCAGTTACAAGGAGGAAATGGAAAGCAAATGAGAAAACTGCTAGATGCCAGGAGTTGCTGCTGCCTTCGGCAACACCCCCCTCTCATCCTCCCCGCCTCATAGATGCTAGGAAATGGGAAAGGGAGATGTGGCTGGGCACAGTGGCTCACACCTGTAATTCCAACACTTTAGGAGACTGAGGCCAGTGAATCACCTGAGATCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTTTCTACTAAAAATACAAAAAAAAATTAGCCAAGTGTGGTGGCAGGAGCCTGTAATCCCAGCTATTTGGAAGGCTGAGGCTGGAGAATCTCTTGAACCCAGGAGGCGGAGGTTGCAGTGACCGGAGATCGCGCCATTGCACTCCAGCCTGAGTGACAAGAGTGAAACTCCGTCTCGGAAAAAAAAAAAAAAAAAAAGGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACGTGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGCAGTGGTGCGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTTGGATGCGGAGGTTGCAGAGAGCCAATATCATGCCACTGCACTCCAGCCTAGGCCACAGAGCATGACTCCAAAAAAAAAAAAAAAAAAGCTAAATGGAAATTTCTAGAAATAGTTCATAAGTTTCAAATCCACACCATCCTGAATAGCTTGAAGTGTTGTGCCATGCTGCTCTGTCATGTTTGGTACGTGAATCGTCCCTTTGTGCAGCCTATCTATGCTATGTGGGCTACCTGCCCGTTAGTAGTCACCTAGGGTATCCAATCAGCTGTCCTGATATCAGAGTGCCTGTGTTCAAGTAACTCTTATTTTGCTCAGTGGCCCCAGATTGCAAGAGTAGTGATGCTGGCATGTCATAATAGTTCTATTTTAGTATTTGTTATTATTGTTGATCTGTTACTATGCCTAGCTCATAAATTAAACTTTCTCATAAGTATGTATGTATAGGGAAAAAAACAACATATATATGGGGTTCGGTACTATCTACGGTTTCAGGCATCCACTGGGGTCTTGGAATGTATCCTCCAAGGATAAGGAAGGACTAGTGTATTCCCCACACCCCTCCCTCTTGCTACCTTTTGCTGCTTTTCTTTAATCACCCTCTCCTCCTGTGGCCTGTTTCTATATACTTGGCATTCTGTTTGCTTTCTTTGTTTTGTCAATCACTTCCTTTCTTCTCTGCCCAAACCCTGGTTGCAGGTGGCAATGGCTACATCAATGACTTTCCCATGGGCCGCTTTCTT
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Task1_train_20527
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The gene IVD (isovaleryl-CoA dehydrogenase) is located on Chromosome 15, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Isovaleryl-CoA dehydrogenase deficiency
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ACTGCTAAGGTGAGGGCCAGCCTCAGTCGGGGAGAGGCGGGGGCAGTGGACCAGCTGCTGAGACTTGCTGTCTGCGTGCCTCGCAGGGCCCTGCTGACCCCAGCTTCCTCCCGTAGGACTGTGCAGGTGTGATTCTTTACTCAGCTGAGTGTGCCACACAGGTAGCCCTGGACGGCATTCAGTGTTTTGGTGAGTGATCCCCACTTCCCAGTCCCGGGGCTCCCTCACTCCTGGGGCCTGTGGCTGCTTCAGAAAGCAGTTTCAGGGCGGGCGTGGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCGAGGTAGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCGCATGCCGGGCATGATGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAACAAAGATTGCACCATTGCACTCCAGCCTAGGTGACAGAGCGAGAGGCTGTCTCAAAAAAAAGCAATTTCCTCTCCACTTCTCCACTCCTCACTATGTGCTTATGCTAGGCCCAGCTGAGCTGGGACCTTCGGGCTCTTTCTGTCCCAGTTACAAGGAGGAAATGGAAAGCAAATGAGAAAACTGCTAGATGCCAGGAGTTGCTGCTGCCTTCGGCAACACCCCCCTCTCATCCTCCCCGCCTCATAGATGCTAGGAAATGGGAAAGGGAGATGTGGCTGGGCACAGTGGCTCACACCTGTAATTCCAACACTTTAGGAGACTGAGGCCAGTGAATCACCTGAGATCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTTTCTACTAAAAATACAAAAAAAAATTAGCCAAGTGTGGTGGCAGGAGCCTGTAATCCCAGCTATTTGGAAGGCTGAGGCTGGAGAATCTCTTGAACCCAGGAGGCGGAGGTTGCAGTGACCGGAGATCGCGCCATTGCACTCCAGCCTGAGTGACAAGAGTGAAACTCCGTCTCGGAAAAAAAAAAAAAAAAAAAGGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACGTGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGCAGTGGTGCGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTTGGATGCGGAGGTTGCAGAGAGCCAATATCATGCCACTGCACTCCAGCCTAGGCCACAGAGCATGACTCCAAAAAAAAAAAAAAAAAAGCTAAATGGAAATTTCTAGAAATAGTTCATAAGTTTCAAATCCACACCATCCTGAATAGCTTGAAGTGTTGTGCCATGCTGCTCTGTCATGTTTGGTACGTGAATCGTCCCTTTGTGCAGCCTATCTATGCTATGTGGGCTACCTGCCCGTTAGTAGTCACCTAGGGTATCCAATCAGCTGTCCTGATATCAGAGTGCCTGTGTTCAAGTAACTCTTATTTTGCTCAGTGGCCCCAGATTGCAAGAGTAGTGATGCTGGCATGTCATAATAGTTCTATTTTAGTATTTGTTATTATTGTTGATCTGTTACTATGCCTAGCTCATAAATTAAACTTTCTCATAAGTATGTATGTATAGGGAAAAAAACAACATATATATGGGGTTCGGTACTATCTACGGTTTCAGGCATCCACTGGGGTCTTGGAATGTATCCTCCAAGGATAAGGAAGGACTAGTGTATTCCCCACACCCCTCCCTCTTGCTACCTTTTGCTGCTTTTCTTTAATCACCCTCTCCTCCTGTGGCCTGTTTCTATATACTTGGCATTCTGTTTGCTTTCTTTGTTTTGTCAATCACTTCCTTTCTTCTCTGCCCAAACCCTGGTTGCAGGTGGCAATGGCTACATCAATGACTTTCCCATGGGCCGCTTTCTTCGAGATGCCAAGCTGTATGAGATAGGGGCTGGGACCAGCGAGGTGAGGCGGCTGGTCATCGGCAGAGCCTTCAATGCAGACTTTCACTAGTCCTGAGACCCTTCGCCCCCTTTTCCTGCACCTAGTGGCCTTTCTTGGGAAGTAGAGATGTGGCGGCTTTCCCACCCTGCCCACAGCAGGCCCTCCTGCCCAGCTGCTCTTGTCAGCCCTCTGGCCTCTGGATGAGGTTGAGTTCTCCACAACAGCTCCCAAGCATCATGGGCCTCGCAGCCGGGCCTGTGCCACGGCTAGTGTTGTGTGATTTAAAATGGACTCAGCAGGAAGCATATTGTCTGGGGATTGTTGGGACAGGTTTTGGTGACTCTGTGCCCTTGCTCTCTAACTTCTGAGCCCACCTCCCAGGGTAGGCACCTGGGGGCATGCAGGTGCCCACCTCCCAGGGTAGGCACCTGGGGGCATGCAGGTACCCACCTCTTTCTCTTGGGTGAGGCTCTGGCAAGGAGATCTCTCTGCTCAAGCACAGCAGAATCATGGCCCCTCTCCATGAATTGGAACTTGGTACAGGTTAAGTATCCCTAATCCTGAAATCTGAAACACTTGTGGTTCCAAGCATTTTGGATAAGGCAAATTCAACTTTCAGTCTCTTTTCTGGGGGAAAAAAATAATAAACCTAGCCTAGCCAGGCGTGGTGGCTCATGCTTGTAATCCCAGCACTTCAGGAGGCTGAGATGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGTGGAAACCTCGCCTCAACTAAAAATAGAAAAAAATTAGTTGGGCATGGTGGTGGGCACCTGTAATCCCAGCTACTTCAGGAGGCTGAGGCAGGAGAATTACTTGAACCCAGGAGGCGGACGTTGCAGTGAGCCGAGCTTGTGCCATTGCACTCCAGCCTGGGCGACAAGAGCAAAACTCTTCAAAAAACAAAACAAAACAAAAAAACCCTGGCCCTTGTTTCTTCCAGTTTCTAGAGGTATCAGCTCCTAGCAGCTTATGAACACATATGCTTGCTTGGCCAGGCAAGGTGGTGTGTGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACTTGCAGTCAGGAGTTCAAGACCAGCCTGTCCAACGTGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGGGTGGTGGTGCACGTCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAATGAGCCAATATGACACCGCTGCAGTCCAGCCTGGGCCATAGAGTGAGACTCTGTCTCAAAAAAGGAAAGAAAAATAGGCTGGGCACAGTGACTCATGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATGGTAAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCAGGCTCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGAGAATTGCTTGAACCCGGGAGGCAGAGTTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCTTGGACGACAGAGCGAGACTCTGTCTCAAAAAATAATAGGCCAGGCATGGTGGCTCAACGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACAAGGTCAGGAGTTCGAGACCAGCCTGACGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCAGGCCTGGTGGCACGCGCCTGTAATCCCAGTTACACAGAAGACTGAGGCAGGAGAATCGCTTGAACGCAGGAGGCAGAGGTTGCAGGAGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAATAATAATAAAATAAATGAACACACATGCTGCTGAGTCCGCAGGGGGGGCAGAGCAGAGGACAGCGTGCTTTTGTGTACTGTTGGAAGACTGGCTCCTCCTGTACAGCACCTCTGAGCCCTTGTGCACCGCCCTGCCACGGGCACCATCCAGTCCTGGCCGT
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ACTGCTAAGGTGAGGGCCAGCCTCAGTCGGGGAGAGGCGGGGGCAGTGGACCAGCTGCTGAGACTTGCTGTCTGCGTGCCTCGCAGGGCCCTGCTGACCCCAGCTTCCTCCCGTAGGACTGTGCAGGTGTGATTCTTTACTCAGCTGAGTGTGCCACACAGGTAGCCCTGGACGGCATTCAGTGTTTTGGTGAGTGATCCCCACTTCCCAGTCCCGGGGCTCCCTCACTCCTGGGGCCTGTGGCTGCTTCAGAAAGCAGTTTCAGGGCGGGCGTGGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCGAGGTAGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCGCATGCCGGGCATGATGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAACAAAGATTGCACCATTGCACTCCAGCCTAGGTGACAGAGCGAGAGGCTGTCTCAAAAAAAAGCAATTTCCTCTCCACTTCTCCACTCCTCACTATGTGCTTATGCTAGGCCCAGCTGAGCTGGGACCTTCGGGCTCTTTCTGTCCCAGTTACAAGGAGGAAATGGAAAGCAAATGAGAAAACTGCTAGATGCCAGGAGTTGCTGCTGCCTTCGGCAACACCCCCCTCTCATCCTCCCCGCCTCATAGATGCTAGGAAATGGGAAAGGGAGATGTGGCTGGGCACAGTGGCTCACACCTGTAATTCCAACACTTTAGGAGACTGAGGCCAGTGAATCACCTGAGATCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTTTCTACTAAAAATACAAAAAAAAATTAGCCAAGTGTGGTGGCAGGAGCCTGTAATCCCAGCTATTTGGAAGGCTGAGGCTGGAGAATCTCTTGAACCCAGGAGGCGGAGGTTGCAGTGACCGGAGATCGCGCCATTGCACTCCAGCCTGAGTGACAAGAGTGAAACTCCGTCTCGGAAAAAAAAAAAAAAAAAAAGGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACGTGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGCAGTGGTGCGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTTGGATGCGGAGGTTGCAGAGAGCCAATATCATGCCACTGCACTCCAGCCTAGGCCACAGAGCATGACTCCAAAAAAAAAAAAAAAAAAGCTAAATGGAAATTTCTAGAAATAGTTCATAAGTTTCAAATCCACACCATCCTGAATAGCTTGAAGTGTTGTGCCATGCTGCTCTGTCATGTTTGGTACGTGAATCGTCCCTTTGTGCAGCCTATCTATGCTATGTGGGCTACCTGCCCGTTAGTAGTCACCTAGGGTATCCAATCAGCTGTCCTGATATCAGAGTGCCTGTGTTCAAGTAACTCTTATTTTGCTCAGTGGCCCCAGATTGCAAGAGTAGTGATGCTGGCATGTCATAATAGTTCTATTTTAGTATTTGTTATTATTGTTGATCTGTTACTATGCCTAGCTCATAAATTAAACTTTCTCATAAGTATGTATGTATAGGGAAAAAAACAACATATATATGGGGTTCGGTACTATCTACGGTTTCAGGCATCCACTGGGGTCTTGGAATGTATCCTCCAAGGATAAGGAAGGACTAGTGTATTCCCCACACCCCTCCCTCTTGCTACCTTTTGCTGCTTTTCTTTAATCACCCTCTCCTCCTGTGGCCTGTTTCTATATACTTGGCATTCTGTTTGCTTTCTTTGTTTTGTCAATCACTTCCTTTCTTCTCTGCCCAAACCCTGGTTGCAGGTGGCAATGGCTACATCAATGACTTTCCCATGGGCCGCTTTCTTCGAGATGCCAAGCTGTATGAGATAGGGGCTGGGACCAGCGAGGTGAGGTGGCTGGTCATCGGCAGAGCCTTCAATGCAGACTTTCACTAGTCCTGAGACCCTTCGCCCCCTTTTCCTGCACCTAGTGGCCTTTCTTGGGAAGTAGAGATGTGGCGGCTTTCCCACCCTGCCCACAGCAGGCCCTCCTGCCCAGCTGCTCTTGTCAGCCCTCTGGCCTCTGGATGAGGTTGAGTTCTCCACAACAGCTCCCAAGCATCATGGGCCTCGCAGCCGGGCCTGTGCCACGGCTAGTGTTGTGTGATTTAAAATGGACTCAGCAGGAAGCATATTGTCTGGGGATTGTTGGGACAGGTTTTGGTGACTCTGTGCCCTTGCTCTCTAACTTCTGAGCCCACCTCCCAGGGTAGGCACCTGGGGGCATGCAGGTGCCCACCTCCCAGGGTAGGCACCTGGGGGCATGCAGGTACCCACCTCTTTCTCTTGGGTGAGGCTCTGGCAAGGAGATCTCTCTGCTCAAGCACAGCAGAATCATGGCCCCTCTCCATGAATTGGAACTTGGTACAGGTTAAGTATCCCTAATCCTGAAATCTGAAACACTTGTGGTTCCAAGCATTTTGGATAAGGCAAATTCAACTTTCAGTCTCTTTTCTGGGGGAAAAAAATAATAAACCTAGCCTAGCCAGGCGTGGTGGCTCATGCTTGTAATCCCAGCACTTCAGGAGGCTGAGATGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGTGGAAACCTCGCCTCAACTAAAAATAGAAAAAAATTAGTTGGGCATGGTGGTGGGCACCTGTAATCCCAGCTACTTCAGGAGGCTGAGGCAGGAGAATTACTTGAACCCAGGAGGCGGACGTTGCAGTGAGCCGAGCTTGTGCCATTGCACTCCAGCCTGGGCGACAAGAGCAAAACTCTTCAAAAAACAAAACAAAACAAAAAAACCCTGGCCCTTGTTTCTTCCAGTTTCTAGAGGTATCAGCTCCTAGCAGCTTATGAACACATATGCTTGCTTGGCCAGGCAAGGTGGTGTGTGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACTTGCAGTCAGGAGTTCAAGACCAGCCTGTCCAACGTGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGGGTGGTGGTGCACGTCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAATGAGCCAATATGACACCGCTGCAGTCCAGCCTGGGCCATAGAGTGAGACTCTGTCTCAAAAAAGGAAAGAAAAATAGGCTGGGCACAGTGACTCATGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATGGTAAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCAGGCTCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGAGAATTGCTTGAACCCGGGAGGCAGAGTTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCTTGGACGACAGAGCGAGACTCTGTCTCAAAAAATAATAGGCCAGGCATGGTGGCTCAACGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACAAGGTCAGGAGTTCGAGACCAGCCTGACGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCAGGCCTGGTGGCACGCGCCTGTAATCCCAGTTACACAGAAGACTGAGGCAGGAGAATCGCTTGAACGCAGGAGGCAGAGGTTGCAGGAGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAATAATAATAAAATAAATGAACACACATGCTGCTGAGTCCGCAGGGGGGGCAGAGCAGAGGACAGCGTGCTTTTGTGTACTGTTGGAAGACTGGCTCCTCCTGTACAGCACCTCTGAGCCCTTGTGCACCGCCCTGCCACGGGCACCATCCAGTCCTGGCCGT
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Task1_train_20528
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With a mutation on Chromosome 15 in gene CHST14 (carbohydrate sulfotransferase 14), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Ehlers-Danlos syndrome, musculocontractural type 1
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GCCAGGGTGGCTGTAACAACTAAAGGAGATAATGAATATAAAACACTTAGTGGGCGCTGTCCTCAGTACACTTGGGCTCTAATCATATTCCTCTGCTGCTTCAGAGGCTTGCTGGCTCTCTGCAGGCAGCAAGCACATAGCTGGACCAAGTCTGGCTACTGAGCCAGGTTCCCAGTGGGAAATGGTGGTTGCTGACATCCAAAGCACTTCGGGTCTGCTGTCCGCCCAAGTGACCAGCCTGGTGCCATGGAGCACACATCTAGCTCCAGGCAAGGAGACTACGTGCTGTTTCCCTGCTGTTTTGTGCCCCCAGCTCCTCACCCTTCCAAATGTGTGTTGGCCACACCAGCAGCTGATGGACCAATGTGTCAGACCCTCCCCAGAGTGCCCAGTTATCCCACTGCCTCATGAGGAGAAGGCAGAGGAGGGGAGACTCCATTTCCAGACATTTCAGCATTACCCAGTGGACAAGCACTGTAGTCAGTCCCCAGGTATTGCTAAACACAAGGGTCACCATGGAGACTGGTCAGTGTCTGACAGTTCTGCTTCTCCTTCCTGGAGTGGCCACGACCTGCAGGACGGAGGGAGTTAAGGGTGGCAAGGGGGAGCACACCGAGGGCTCCGCTTCCAGCTGGAAAGACCAGCCTCCGGCACGTCTGGACTCGGAGAGAGCGCTGCCCGCCTCCCTGCCTCCAGACCCGTTGCTGGAGGAAGGGCTAGGACAGGCCTGAGTTTGTGGCGAATCCCCCTTGTCCACTTCCCTGAGGACACACGCTGCAGGAGAGCAGCCTCGAGTCTTTTCTGCCTTCGAGGTCTCAGGAGCTTTTGTCCCCAAGCCCAGAGGACAGGGGTGGCCCTGACTCAGGCGCCCTCTTCCGGGTAGGGGTCCGCGTGCGCCCTCCCAAGCCCGCGCCCCGCAGGGGCGCCCGCCCCTCTCCCCGCCCCCGGCGTGGGCCCGCCCCCGCGCCTGTGTCACTGCGAGGCCGGGGGTGGAGAGCGGCCGGGCGGGACATCCGGCCCGGGTCCCTCGCCGCGCCCGCCGCCCGCCGCCCGCTTCGGCGCCGCAGCCCGGGAGCCGGCCACCCCTACACGCGCCAGGGCTGTCCCCTGCCCTCCCCTCCCCAACTACCCCCGGTCCCAGACCCTCCTCCCGCCCCCAGCCCGAGCCCGCCTTCCAGGCCGCCCTCGGATCGGCCGGGCCCGCGCAGGCCCCCACCCCTTGAGCACCATGTTCCCCCGCCCGCTGACCCCGCTGGCGGCCCCAAATGGCGCCGAGCCCCTGGGCCGGGCGCTGAGGCGGGCCCCTCTGGGCAGGGCCCGGGCGGGGCTGGGTGGGCCGCCCCTGCTGCTGCCGTCCATGCTGATGTTTGCGGTGATCGTGGCCTCCAGCGGGCTGCTGCTCATGATCGAGCGGGGCATCCTGGCCGAGATGAAGCCCCTGCCCCTGCACCCGCCCGGCCGCGAGGGCACAGCCTGGCGCGGGAAAGCCCCCAAGCCTGGGGGCCTGTCCCTCAGGGCTGGGGACGCGGACTTGCAAGTGCGGCAGGACGTCCGGAACAGGACCCTGCGGGCGGTGTGCGGACAGCCAGGCATGCCCCGGGACCCCTGGGACTTGCCGGTGGGGCAGCGGCGCACCCTGCTGCGCCACATCCTCGTAAGTGACCGTTACCGCTTCCTCTACTGCTACGTCCCCAAGGTGGCCTGCTCTAACTGGAAGCGGGTGATGAAGGTGCTGGCAGGCGTCCTGGACAGCGTGGACGTCCGCCTCAAGATGGACCACCGCAGTGACCTGGTGTTCCTGGCCGACCTGCGGCCTGAGGAGATTCGCTACCGCCTGCAGCACTACTTTAAGTTCCTGTTTGTGCGGGAGCCCTTGGAACGCCTCCTCTCTGCCTACCGCAACAAGTTTGGCGAGATCCGAGAGTACCAGCAACGCTATGGGGCTGAGATAGTGAGGCGGTACAGGGCTGGAGCGGGGCCCAGCCCTGCAGGCGACGATGTCACATTCCCCGAGTTCCTGAGATACCTGGTGGATGAGGACCCTGAGCGCATGAATGAGCATTGGATGCCCGTGTACCACCTGTGCCAGCCTTGTGCCGTGCACTATGACTTTGTGGGCTCCTATGAGAGGCTGGAGGCTGATGCAAATCAGGTGCTGGAGTGGGTACGGGCACCACCTCACGTCCGATTTCCAGCTCGCCAGGCCTGGTACCGGCCAGCCAGCCCCGAAAGCCTGCATTACCACTTGTGCAGTGCCCCCCGGGCCCTGCTGCAGGATGTGCTGCCTAAGTATATCCTGGACTTCTCCCTCTTTGCCTACCCACTGCCTAATGTCACCAAGGAGGCGTGTCAGCAGTGACCATGGGTGTGGGGCCAGCAGCTGGTGGGGACTGGTTTCAACGCCAGCTTTCTGTGCTTCTGCCTGTCATTCGGAGAAACTCTGGCTCTGGGGCTTGGGGCTTCTCAGGATCCTGGATGGCAGAGACTGCCCTCAGAAGTTCCTTGTCCAGGGTGGGCACCCACAGTGACTCAGAGGACAGGGCTAGGCAGGAGACCTGCTGCTCCTCATTGGGGGGATCTCTTGGGGGGCAGACACCAGTTTGCCAATGAAGCAACACATCTGATCTAAAGACTGGCTCCAGACCCCGGGCTGCCAGGATTATGCAGTCCACTTGGTCTACCTTAATTTAACCTGTGGCCAAACTCAGAGATGGTACCAGCCAGGGGCAAGCATGACCAGAGCCAGGGACCCTGTGGCTCTGATCCCCCATTTATCCACCCCATGTGCCTCAGGACTAGAGTGAGCAATCATACCTTATAAATGACTTTTGTGCCTTTCTGCTCCAGTCTCAAAATTTCCTACACCTGCCAGTTCTTTACATTTTTCCAAGGAAAGGAAAACGGAAGCAGGGTTCTTGCCTGGTAGCTCCAGGACCCAGCTCTGCAGGCACCCAAAGACCCTCTGTGCCCAGCCTCTTCCTTGAGTTCTCGGAACCTCCTCCCTAATTCTCCCTTCCTTCCCCACAAGGCCTTTGAGGTTGTGACTGTGGCTGGTATATCTGGCTGCCATTTTTCTGATGCATTTATTTAAAATTTGTACTTTTTGATAGAACCCTTGTAAGGGCTTTGTTTTCCTAATAGCTGACTTTTTAATAAAGCAGTTTTATATATAAGGCGAGCATTTCTGTGATTTCCCTTGGAGCTCCTGTGGGCCCAGCAGATCTCCTCGATGTCTGTCTTCCCATGTCAGGGGAGGCAGCCTGTAGATAGAGAAAGTAAGGTATAACTTGGTTGGGCTGGTCCAATGGGCCGTTGCCATTCCATGGAGACTTTGGGGGCTTTCTAATAGGCTATACCAGATCACAGACTCAGATCCTGGGATGTCACCAAAGGGCAAGCCCAGTTAGGAATGGCCTCACGTCCAGAGCATACCTACATGTATTATTCCCTAAAAAAGTAGGTGGGTAGGAGATACGGGATCCTCCTCTTATTCAATAAGAGTTGAATGAGAAGTTCCCCCAGAGCATTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTGAGATGAAGTCTCGATCTGTCACCCAGGCTGCAGTGCAGTAGCACCATCTTGGCTCACTGCAACCTCTACCTCCTGGGTTCTAGCGATTGCCTCAGCCTCCCAAGTAGCTGGGATGATTACAGGCACGCACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTTTTGAACTCCTAACCTCAGGTGATCTGCCCACCTCGGCCCCTCCAAAGTGCTAGGATTACAGGCGTGAGCTACCACGCCTGGCCCCGGACCATTTTCAAATGAAAAAGAAAATTTTTGTGTGAGCAAGGAGATTTTTTTCTGGCACTACAAGGAAGGCAGGCAAGGAGGTTGAGTGAGGGTCAGGCTCTTGTTGACTTAGGTCCAGAGAAAGTTGTGGAAGGAATACAGTTGGAGCAGCAGAGGACAGACTTCAGTATGGCCCATTGCCCCCACTGCTCTCCAGGGATCCCAGGCCCATCAGGAGTTGCTGGGCCCAAGGGAGAGTTGCAAGGCCAGAGC
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GCCAGGGTGGCTGTAACAACTAAAGGAGATAATGAATATAAAACACTTAGTGGGCGCTGTCCTCAGTACACTTGGGCTCTAATCATATTCCTCTGCTGCTTCAGAGGCTTGCTGGCTCTCTGCAGGCAGCAAGCACATAGCTGGACCAAGTCTGGCTACTGAGCCAGGTTCCCAGTGGGAAATGGTGGTTGCTGACATCCAAAGCACTTCGGGTCTGCTGTCCGCCCAAGTGACCAGCCTGGTGCCATGGAGCACACATCTAGCTCCAGGCAAGGAGACTACGTGCTGTTTCCCTGCTGTTTTGTGCCCCCAGCTCCTCACCCTTCCAAATGTGTGTTGGCCACACCAGCAGCTGATGGACCAATGTGTCAGACCCTCCCCAGAGTGCCCAGTTATCCCACTGCCTCATGAGGAGAAGGCAGAGGAGGGGAGACTCCATTTCCAGACATTTCAGCATTACCCAGTGGACAAGCACTGTAGTCAGTCCCCAGGTATTGCTAAACACAAGGGTCACCATGGAGACTGGTCAGTGTCTGACAGTTCTGCTTCTCCTTCCTGGAGTGGCCACGACCTGCAGGACGGAGGGAGTTAAGGGTGGCAAGGGGGAGCACACCGAGGGCTCCGCTTCCAGCTGGAAAGACCAGCCTCCGGCACGTCTGGACTCGGAGAGAGCGCTGCCCGCCTCCCTGCCTCCAGACCCGTTGCTGGAGGAAGGGCTAGGACAGGCCTGAGTTTGTGGCGAATCCCCCTTGTCCACTTCCCTGAGGACACACGCTGCAGGAGAGCAGCCTCGAGTCTTTTCTGCCTTCGAGGTCTCAGGAGCTTTTGTCCCCAAGCCCAGAGGACAGGGGTGGCCCTGACTCAGGCGCCCTCTTCCGGGTAGGGGTCCGCGTGCGCCCTCCCAAGCCCGCGCCCCGCAGGGGCGCCCGCCCCTCTCCCCGCCCCCGGCGTGGGCCCGCCCCCGCGCCTGTGTCACTGCGAGGCCGGGGGTGGAGAGCGGCCGGGCGGGACATCCGGCCCGGGTCCCTCGCCGCGCCCGCCGCCCGCCGCCCGCTTCGGCGCCGCAGCCCGGGAGCCGGCCACCCCTACACGCGCCAGGGCTGTCCCCTGCCCTCCCCTCCCCAACTACCCCCGGTCCCAGACCCTCCTCCCGCCCCCAGCCCGAGCCCGCCTTCCAGGCCGCCCTCGGATCGGCCGGGCCCGCGCAGGCCCCCACCCCTTGAGCACCATGTTCCCCCGCCCGCTGACCCCGCTGGCGGCCCCAAATGGCGCCGAGCCCCTGGGCCGGGCGCTGAGGCGGGCCCCTCTGGGCAGGGCCCGGGCGGGGCTGGGTGGGCCGCCCCTGCTGCTGCCGTCCATGCTGATGTTTGCGGTGATCGTGGCCTCCAGCGGGCTGCTGCTCATGATCGAGCGGGGCATCCTGGCCGAGATGAAGCCCCTGCCCCTGCACCCGCCCGGCCGCGAGGGCACAGCCTGGCGCGGGAAAGCCCCCAAGCCTGGGGGCCTGTCCCTCAGGGCTGGGGACGCGGACTTGCAAGTGCGGCAGGACGTCCGGAACAGGACCCTGCGGGCGGTGTGCGGACAGCCAGGCATGCCCCGGGACCCCTGGGACTTGCCGGTGGGGCAGCGGCGCACCCTGCTGCGCCACATCCTCGTAAGTGACCGTTACCGCTTCCTCTACTGCTACGTCCCCAAGGTGGCCTGCTCTAACTGGAAGCGGGTGATGAAGGTGCTGGCAGGCGTCCTGGACAGCGTGGACGTCCGCCTCAAGATGGACCACCGCAGTGACCTGGTGTTCCTGGCCGACCTGCGGCCTGAGGAGATTCGCTACCGCCTGCAGCACTACTTTAAGTTCCTGTTTGTGCGGGAGCCCTTGGAACGCCTCCTCTCTGCCTACCGCAACAAGTTTGGCGAGATCCGAGAGTACCAGCAACGCTATGGGGCTGAGATAGTGAGGCGGTACAGGGCTGGAGCGGGGCCCAGCCCTGCAGGCGACGATGTCACATTCCCCGAGTTCCTGAGATACCTGGTGGATGAGGACCCTGAGCCCATGAATGAGCATTGGATGCCCGTGTACCACCTGTGCCAGCCTTGTGCCGTGCACTATGACTTTGTGGGCTCCTATGAGAGGCTGGAGGCTGATGCAAATCAGGTGCTGGAGTGGGTACGGGCACCACCTCACGTCCGATTTCCAGCTCGCCAGGCCTGGTACCGGCCAGCCAGCCCCGAAAGCCTGCATTACCACTTGTGCAGTGCCCCCCGGGCCCTGCTGCAGGATGTGCTGCCTAAGTATATCCTGGACTTCTCCCTCTTTGCCTACCCACTGCCTAATGTCACCAAGGAGGCGTGTCAGCAGTGACCATGGGTGTGGGGCCAGCAGCTGGTGGGGACTGGTTTCAACGCCAGCTTTCTGTGCTTCTGCCTGTCATTCGGAGAAACTCTGGCTCTGGGGCTTGGGGCTTCTCAGGATCCTGGATGGCAGAGACTGCCCTCAGAAGTTCCTTGTCCAGGGTGGGCACCCACAGTGACTCAGAGGACAGGGCTAGGCAGGAGACCTGCTGCTCCTCATTGGGGGGATCTCTTGGGGGGCAGACACCAGTTTGCCAATGAAGCAACACATCTGATCTAAAGACTGGCTCCAGACCCCGGGCTGCCAGGATTATGCAGTCCACTTGGTCTACCTTAATTTAACCTGTGGCCAAACTCAGAGATGGTACCAGCCAGGGGCAAGCATGACCAGAGCCAGGGACCCTGTGGCTCTGATCCCCCATTTATCCACCCCATGTGCCTCAGGACTAGAGTGAGCAATCATACCTTATAAATGACTTTTGTGCCTTTCTGCTCCAGTCTCAAAATTTCCTACACCTGCCAGTTCTTTACATTTTTCCAAGGAAAGGAAAACGGAAGCAGGGTTCTTGCCTGGTAGCTCCAGGACCCAGCTCTGCAGGCACCCAAAGACCCTCTGTGCCCAGCCTCTTCCTTGAGTTCTCGGAACCTCCTCCCTAATTCTCCCTTCCTTCCCCACAAGGCCTTTGAGGTTGTGACTGTGGCTGGTATATCTGGCTGCCATTTTTCTGATGCATTTATTTAAAATTTGTACTTTTTGATAGAACCCTTGTAAGGGCTTTGTTTTCCTAATAGCTGACTTTTTAATAAAGCAGTTTTATATATAAGGCGAGCATTTCTGTGATTTCCCTTGGAGCTCCTGTGGGCCCAGCAGATCTCCTCGATGTCTGTCTTCCCATGTCAGGGGAGGCAGCCTGTAGATAGAGAAAGTAAGGTATAACTTGGTTGGGCTGGTCCAATGGGCCGTTGCCATTCCATGGAGACTTTGGGGGCTTTCTAATAGGCTATACCAGATCACAGACTCAGATCCTGGGATGTCACCAAAGGGCAAGCCCAGTTAGGAATGGCCTCACGTCCAGAGCATACCTACATGTATTATTCCCTAAAAAAGTAGGTGGGTAGGAGATACGGGATCCTCCTCTTATTCAATAAGAGTTGAATGAGAAGTTCCCCCAGAGCATTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTGAGATGAAGTCTCGATCTGTCACCCAGGCTGCAGTGCAGTAGCACCATCTTGGCTCACTGCAACCTCTACCTCCTGGGTTCTAGCGATTGCCTCAGCCTCCCAAGTAGCTGGGATGATTACAGGCACGCACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTTTTGAACTCCTAACCTCAGGTGATCTGCCCACCTCGGCCCCTCCAAAGTGCTAGGATTACAGGCGTGAGCTACCACGCCTGGCCCCGGACCATTTTCAAATGAAAAAGAAAATTTTTGTGTGAGCAAGGAGATTTTTTTCTGGCACTACAAGGAAGGCAGGCAAGGAGGTTGAGTGAGGGTCAGGCTCTTGTTGACTTAGGTCCAGAGAAAGTTGTGGAAGGAATACAGTTGGAGCAGCAGAGGACAGACTTCAGTATGGCCCATTGCCCCCACTGCTCTCCAGGGATCCCAGGCCCATCAGGAGTTGCTGGGCCCAAGGGAGAGTTGCAAGGCCAGAGC
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Task1_train_20529
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Mutation context: Chromosome 15, Gene CHST14 (carbohydrate sulfotransferase 14). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Ehlers-Danlos syndrome, musculocontractural type
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AAAGGAGATAATGAATATAAAACACTTAGTGGGCGCTGTCCTCAGTACACTTGGGCTCTAATCATATTCCTCTGCTGCTTCAGAGGCTTGCTGGCTCTCTGCAGGCAGCAAGCACATAGCTGGACCAAGTCTGGCTACTGAGCCAGGTTCCCAGTGGGAAATGGTGGTTGCTGACATCCAAAGCACTTCGGGTCTGCTGTCCGCCCAAGTGACCAGCCTGGTGCCATGGAGCACACATCTAGCTCCAGGCAAGGAGACTACGTGCTGTTTCCCTGCTGTTTTGTGCCCCCAGCTCCTCACCCTTCCAAATGTGTGTTGGCCACACCAGCAGCTGATGGACCAATGTGTCAGACCCTCCCCAGAGTGCCCAGTTATCCCACTGCCTCATGAGGAGAAGGCAGAGGAGGGGAGACTCCATTTCCAGACATTTCAGCATTACCCAGTGGACAAGCACTGTAGTCAGTCCCCAGGTATTGCTAAACACAAGGGTCACCATGGAGACTGGTCAGTGTCTGACAGTTCTGCTTCTCCTTCCTGGAGTGGCCACGACCTGCAGGACGGAGGGAGTTAAGGGTGGCAAGGGGGAGCACACCGAGGGCTCCGCTTCCAGCTGGAAAGACCAGCCTCCGGCACGTCTGGACTCGGAGAGAGCGCTGCCCGCCTCCCTGCCTCCAGACCCGTTGCTGGAGGAAGGGCTAGGACAGGCCTGAGTTTGTGGCGAATCCCCCTTGTCCACTTCCCTGAGGACACACGCTGCAGGAGAGCAGCCTCGAGTCTTTTCTGCCTTCGAGGTCTCAGGAGCTTTTGTCCCCAAGCCCAGAGGACAGGGGTGGCCCTGACTCAGGCGCCCTCTTCCGGGTAGGGGTCCGCGTGCGCCCTCCCAAGCCCGCGCCCCGCAGGGGCGCCCGCCCCTCTCCCCGCCCCCGGCGTGGGCCCGCCCCCGCGCCTGTGTCACTGCGAGGCCGGGGGTGGAGAGCGGCCGGGCGGGACATCCGGCCCGGGTCCCTCGCCGCGCCCGCCGCCCGCCGCCCGCTTCGGCGCCGCAGCCCGGGAGCCGGCCACCCCTACACGCGCCAGGGCTGTCCCCTGCCCTCCCCTCCCCAACTACCCCCGGTCCCAGACCCTCCTCCCGCCCCCAGCCCGAGCCCGCCTTCCAGGCCGCCCTCGGATCGGCCGGGCCCGCGCAGGCCCCCACCCCTTGAGCACCATGTTCCCCCGCCCGCTGACCCCGCTGGCGGCCCCAAATGGCGCCGAGCCCCTGGGCCGGGCGCTGAGGCGGGCCCCTCTGGGCAGGGCCCGGGCGGGGCTGGGTGGGCCGCCCCTGCTGCTGCCGTCCATGCTGATGTTTGCGGTGATCGTGGCCTCCAGCGGGCTGCTGCTCATGATCGAGCGGGGCATCCTGGCCGAGATGAAGCCCCTGCCCCTGCACCCGCCCGGCCGCGAGGGCACAGCCTGGCGCGGGAAAGCCCCCAAGCCTGGGGGCCTGTCCCTCAGGGCTGGGGACGCGGACTTGCAAGTGCGGCAGGACGTCCGGAACAGGACCCTGCGGGCGGTGTGCGGACAGCCAGGCATGCCCCGGGACCCCTGGGACTTGCCGGTGGGGCAGCGGCGCACCCTGCTGCGCCACATCCTCGTAAGTGACCGTTACCGCTTCCTCTACTGCTACGTCCCCAAGGTGGCCTGCTCTAACTGGAAGCGGGTGATGAAGGTGCTGGCAGGCGTCCTGGACAGCGTGGACGTCCGCCTCAAGATGGACCACCGCAGTGACCTGGTGTTCCTGGCCGACCTGCGGCCTGAGGAGATTCGCTACCGCCTGCAGCACTACTTTAAGTTCCTGTTTGTGCGGGAGCCCTTGGAACGCCTCCTCTCTGCCTACCGCAACAAGTTTGGCGAGATCCGAGAGTACCAGCAACGCTATGGGGCTGAGATAGTGAGGCGGTACAGGGCTGGAGCGGGGCCCAGCCCTGCAGGCGACGATGTCACATTCCCCGAGTTCCTGAGATACCTGGTGGATGAGGACCCTGAGCGCATGAATGAGCATTGGATGCCCGTGTACCACCTGTGCCAGCCTTGTGCCGTGCACTATGACTTTGTGGGCTCCTATGAGAGGCTGGAGGCTGATGCAAATCAGGTGCTGGAGTGGGTACGGGCACCACCTCACGTCCGATTTCCAGCTCGCCAGGCCTGGTACCGGCCAGCCAGCCCCGAAAGCCTGCATTACCACTTGTGCAGTGCCCCCCGGGCCCTGCTGCAGGATGTGCTGCCTAAGTATATCCTGGACTTCTCCCTCTTTGCCTACCCACTGCCTAATGTCACCAAGGAGGCGTGTCAGCAGTGACCATGGGTGTGGGGCCAGCAGCTGGTGGGGACTGGTTTCAACGCCAGCTTTCTGTGCTTCTGCCTGTCATTCGGAGAAACTCTGGCTCTGGGGCTTGGGGCTTCTCAGGATCCTGGATGGCAGAGACTGCCCTCAGAAGTTCCTTGTCCAGGGTGGGCACCCACAGTGACTCAGAGGACAGGGCTAGGCAGGAGACCTGCTGCTCCTCATTGGGGGGATCTCTTGGGGGGCAGACACCAGTTTGCCAATGAAGCAACACATCTGATCTAAAGACTGGCTCCAGACCCCGGGCTGCCAGGATTATGCAGTCCACTTGGTCTACCTTAATTTAACCTGTGGCCAAACTCAGAGATGGTACCAGCCAGGGGCAAGCATGACCAGAGCCAGGGACCCTGTGGCTCTGATCCCCCATTTATCCACCCCATGTGCCTCAGGACTAGAGTGAGCAATCATACCTTATAAATGACTTTTGTGCCTTTCTGCTCCAGTCTCAAAATTTCCTACACCTGCCAGTTCTTTACATTTTTCCAAGGAAAGGAAAACGGAAGCAGGGTTCTTGCCTGGTAGCTCCAGGACCCAGCTCTGCAGGCACCCAAAGACCCTCTGTGCCCAGCCTCTTCCTTGAGTTCTCGGAACCTCCTCCCTAATTCTCCCTTCCTTCCCCACAAGGCCTTTGAGGTTGTGACTGTGGCTGGTATATCTGGCTGCCATTTTTCTGATGCATTTATTTAAAATTTGTACTTTTTGATAGAACCCTTGTAAGGGCTTTGTTTTCCTAATAGCTGACTTTTTAATAAAGCAGTTTTATATATAAGGCGAGCATTTCTGTGATTTCCCTTGGAGCTCCTGTGGGCCCAGCAGATCTCCTCGATGTCTGTCTTCCCATGTCAGGGGAGGCAGCCTGTAGATAGAGAAAGTAAGGTATAACTTGGTTGGGCTGGTCCAATGGGCCGTTGCCATTCCATGGAGACTTTGGGGGCTTTCTAATAGGCTATACCAGATCACAGACTCAGATCCTGGGATGTCACCAAAGGGCAAGCCCAGTTAGGAATGGCCTCACGTCCAGAGCATACCTACATGTATTATTCCCTAAAAAAGTAGGTGGGTAGGAGATACGGGATCCTCCTCTTATTCAATAAGAGTTGAATGAGAAGTTCCCCCAGAGCATTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTGAGATGAAGTCTCGATCTGTCACCCAGGCTGCAGTGCAGTAGCACCATCTTGGCTCACTGCAACCTCTACCTCCTGGGTTCTAGCGATTGCCTCAGCCTCCCAAGTAGCTGGGATGATTACAGGCACGCACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTTTTGAACTCCTAACCTCAGGTGATCTGCCCACCTCGGCCCCTCCAAAGTGCTAGGATTACAGGCGTGAGCTACCACGCCTGGCCCCGGACCATTTTCAAATGAAAAAGAAAATTTTTGTGTGAGCAAGGAGATTTTTTTCTGGCACTACAAGGAAGGCAGGCAAGGAGGTTGAGTGAGGGTCAGGCTCTTGTTGACTTAGGTCCAGAGAAAGTTGTGGAAGGAATACAGTTGGAGCAGCAGAGGACAGACTTCAGTATGGCCCATTGCCCCCACTGCTCTCCAGGGATCCCAGGCCCATCAGGAGTTGCTGGGCCCAAGGGAGAGTTGCAAGGCCAGAGCTGGCCCTTCTCTGTTAGCCCT
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AAAGGAGATAATGAATATAAAACACTTAGTGGGCGCTGTCCTCAGTACACTTGGGCTCTAATCATATTCCTCTGCTGCTTCAGAGGCTTGCTGGCTCTCTGCAGGCAGCAAGCACATAGCTGGACCAAGTCTGGCTACTGAGCCAGGTTCCCAGTGGGAAATGGTGGTTGCTGACATCCAAAGCACTTCGGGTCTGCTGTCCGCCCAAGTGACCAGCCTGGTGCCATGGAGCACACATCTAGCTCCAGGCAAGGAGACTACGTGCTGTTTCCCTGCTGTTTTGTGCCCCCAGCTCCTCACCCTTCCAAATGTGTGTTGGCCACACCAGCAGCTGATGGACCAATGTGTCAGACCCTCCCCAGAGTGCCCAGTTATCCCACTGCCTCATGAGGAGAAGGCAGAGGAGGGGAGACTCCATTTCCAGACATTTCAGCATTACCCAGTGGACAAGCACTGTAGTCAGTCCCCAGGTATTGCTAAACACAAGGGTCACCATGGAGACTGGTCAGTGTCTGACAGTTCTGCTTCTCCTTCCTGGAGTGGCCACGACCTGCAGGACGGAGGGAGTTAAGGGTGGCAAGGGGGAGCACACCGAGGGCTCCGCTTCCAGCTGGAAAGACCAGCCTCCGGCACGTCTGGACTCGGAGAGAGCGCTGCCCGCCTCCCTGCCTCCAGACCCGTTGCTGGAGGAAGGGCTAGGACAGGCCTGAGTTTGTGGCGAATCCCCCTTGTCCACTTCCCTGAGGACACACGCTGCAGGAGAGCAGCCTCGAGTCTTTTCTGCCTTCGAGGTCTCAGGAGCTTTTGTCCCCAAGCCCAGAGGACAGGGGTGGCCCTGACTCAGGCGCCCTCTTCCGGGTAGGGGTCCGCGTGCGCCCTCCCAAGCCCGCGCCCCGCAGGGGCGCCCGCCCCTCTCCCCGCCCCCGGCGTGGGCCCGCCCCCGCGCCTGTGTCACTGCGAGGCCGGGGGTGGAGAGCGGCCGGGCGGGACATCCGGCCCGGGTCCCTCGCCGCGCCCGCCGCCCGCCGCCCGCTTCGGCGCCGCAGCCCGGGAGCCGGCCACCCCTACACGCGCCAGGGCTGTCCCCTGCCCTCCCCTCCCCAACTACCCCCGGTCCCAGACCCTCCTCCCGCCCCCAGCCCGAGCCCGCCTTCCAGGCCGCCCTCGGATCGGCCGGGCCCGCGCAGGCCCCCACCCCTTGAGCACCATGTTCCCCCGCCCGCTGACCCCGCTGGCGGCCCCAAATGGCGCCGAGCCCCTGGGCCGGGCGCTGAGGCGGGCCCCTCTGGGCAGGGCCCGGGCGGGGCTGGGTGGGCCGCCCCTGCTGCTGCCGTCCATGCTGATGTTTGCGGTGATCGTGGCCTCCAGCGGGCTGCTGCTCATGATCGAGCGGGGCATCCTGGCCGAGATGAAGCCCCTGCCCCTGCACCCGCCCGGCCGCGAGGGCACAGCCTGGCGCGGGAAAGCCCCCAAGCCTGGGGGCCTGTCCCTCAGGGCTGGGGACGCGGACTTGCAAGTGCGGCAGGACGTCCGGAACAGGACCCTGCGGGCGGTGTGCGGACAGCCAGGCATGCCCCGGGACCCCTGGGACTTGCCGGTGGGGCAGCGGCGCACCCTGCTGCGCCACATCCTCGTAAGTGACCGTTACCGCTTCCTCTACTGCTACGTCCCCAAGGTGGCCTGCTCTAACTGGAAGCGGGTGATGAAGGTGCTGGCAGGCGTCCTGGACAGCGTGGACGTCCGCCTCAAGATGGACCACCGCAGTGACCTGGTGTTCCTGGCCGACCTGCGGCCTGAGGAGATTCGCTACCGCCTGCAGCACTACTTTAAGTTCCTGTTTGTGCGGGAGCCCTTGGAACGCCTCCTCTCTGCCTACCGCAACAAGTTTGGCGAGATCCGAGAGTACCAGCAACGCTATGGGGCTGAGATAGTGAGGCGGTACAGGGCTGGAGCGGGGCCCAGCCCTGCAGGCGACGATGTCACATTCCCCGAGTTCCTGAGATACCTGGTGGATGAGGACCCTGAGCGCATGAATGAGCATTGGATGCTCGTGTACCACCTGTGCCAGCCTTGTGCCGTGCACTATGACTTTGTGGGCTCCTATGAGAGGCTGGAGGCTGATGCAAATCAGGTGCTGGAGTGGGTACGGGCACCACCTCACGTCCGATTTCCAGCTCGCCAGGCCTGGTACCGGCCAGCCAGCCCCGAAAGCCTGCATTACCACTTGTGCAGTGCCCCCCGGGCCCTGCTGCAGGATGTGCTGCCTAAGTATATCCTGGACTTCTCCCTCTTTGCCTACCCACTGCCTAATGTCACCAAGGAGGCGTGTCAGCAGTGACCATGGGTGTGGGGCCAGCAGCTGGTGGGGACTGGTTTCAACGCCAGCTTTCTGTGCTTCTGCCTGTCATTCGGAGAAACTCTGGCTCTGGGGCTTGGGGCTTCTCAGGATCCTGGATGGCAGAGACTGCCCTCAGAAGTTCCTTGTCCAGGGTGGGCACCCACAGTGACTCAGAGGACAGGGCTAGGCAGGAGACCTGCTGCTCCTCATTGGGGGGATCTCTTGGGGGGCAGACACCAGTTTGCCAATGAAGCAACACATCTGATCTAAAGACTGGCTCCAGACCCCGGGCTGCCAGGATTATGCAGTCCACTTGGTCTACCTTAATTTAACCTGTGGCCAAACTCAGAGATGGTACCAGCCAGGGGCAAGCATGACCAGAGCCAGGGACCCTGTGGCTCTGATCCCCCATTTATCCACCCCATGTGCCTCAGGACTAGAGTGAGCAATCATACCTTATAAATGACTTTTGTGCCTTTCTGCTCCAGTCTCAAAATTTCCTACACCTGCCAGTTCTTTACATTTTTCCAAGGAAAGGAAAACGGAAGCAGGGTTCTTGCCTGGTAGCTCCAGGACCCAGCTCTGCAGGCACCCAAAGACCCTCTGTGCCCAGCCTCTTCCTTGAGTTCTCGGAACCTCCTCCCTAATTCTCCCTTCCTTCCCCACAAGGCCTTTGAGGTTGTGACTGTGGCTGGTATATCTGGCTGCCATTTTTCTGATGCATTTATTTAAAATTTGTACTTTTTGATAGAACCCTTGTAAGGGCTTTGTTTTCCTAATAGCTGACTTTTTAATAAAGCAGTTTTATATATAAGGCGAGCATTTCTGTGATTTCCCTTGGAGCTCCTGTGGGCCCAGCAGATCTCCTCGATGTCTGTCTTCCCATGTCAGGGGAGGCAGCCTGTAGATAGAGAAAGTAAGGTATAACTTGGTTGGGCTGGTCCAATGGGCCGTTGCCATTCCATGGAGACTTTGGGGGCTTTCTAATAGGCTATACCAGATCACAGACTCAGATCCTGGGATGTCACCAAAGGGCAAGCCCAGTTAGGAATGGCCTCACGTCCAGAGCATACCTACATGTATTATTCCCTAAAAAAGTAGGTGGGTAGGAGATACGGGATCCTCCTCTTATTCAATAAGAGTTGAATGAGAAGTTCCCCCAGAGCATTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTGAGATGAAGTCTCGATCTGTCACCCAGGCTGCAGTGCAGTAGCACCATCTTGGCTCACTGCAACCTCTACCTCCTGGGTTCTAGCGATTGCCTCAGCCTCCCAAGTAGCTGGGATGATTACAGGCACGCACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTTTTGAACTCCTAACCTCAGGTGATCTGCCCACCTCGGCCCCTCCAAAGTGCTAGGATTACAGGCGTGAGCTACCACGCCTGGCCCCGGACCATTTTCAAATGAAAAAGAAAATTTTTGTGTGAGCAAGGAGATTTTTTTCTGGCACTACAAGGAAGGCAGGCAAGGAGGTTGAGTGAGGGTCAGGCTCTTGTTGACTTAGGTCCAGAGAAAGTTGTGGAAGGAATACAGTTGGAGCAGCAGAGGACAGACTTCAGTATGGCCCATTGCCCCCACTGCTCTCCAGGGATCCCAGGCCCATCAGGAGTTGCTGGGCCCAAGGGAGAGTTGCAAGGCCAGAGCTGGCCCTTCTCTGTTAGCCCT
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Task1_train_20530
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A genetic alteration is present in CHST14 (carbohydrate sulfotransferase 14) on Chromosome 15. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Ehlers-Danlos syndrome, musculocontractural type 1
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CTTAGTGGGCGCTGTCCTCAGTACACTTGGGCTCTAATCATATTCCTCTGCTGCTTCAGAGGCTTGCTGGCTCTCTGCAGGCAGCAAGCACATAGCTGGACCAAGTCTGGCTACTGAGCCAGGTTCCCAGTGGGAAATGGTGGTTGCTGACATCCAAAGCACTTCGGGTCTGCTGTCCGCCCAAGTGACCAGCCTGGTGCCATGGAGCACACATCTAGCTCCAGGCAAGGAGACTACGTGCTGTTTCCCTGCTGTTTTGTGCCCCCAGCTCCTCACCCTTCCAAATGTGTGTTGGCCACACCAGCAGCTGATGGACCAATGTGTCAGACCCTCCCCAGAGTGCCCAGTTATCCCACTGCCTCATGAGGAGAAGGCAGAGGAGGGGAGACTCCATTTCCAGACATTTCAGCATTACCCAGTGGACAAGCACTGTAGTCAGTCCCCAGGTATTGCTAAACACAAGGGTCACCATGGAGACTGGTCAGTGTCTGACAGTTCTGCTTCTCCTTCCTGGAGTGGCCACGACCTGCAGGACGGAGGGAGTTAAGGGTGGCAAGGGGGAGCACACCGAGGGCTCCGCTTCCAGCTGGAAAGACCAGCCTCCGGCACGTCTGGACTCGGAGAGAGCGCTGCCCGCCTCCCTGCCTCCAGACCCGTTGCTGGAGGAAGGGCTAGGACAGGCCTGAGTTTGTGGCGAATCCCCCTTGTCCACTTCCCTGAGGACACACGCTGCAGGAGAGCAGCCTCGAGTCTTTTCTGCCTTCGAGGTCTCAGGAGCTTTTGTCCCCAAGCCCAGAGGACAGGGGTGGCCCTGACTCAGGCGCCCTCTTCCGGGTAGGGGTCCGCGTGCGCCCTCCCAAGCCCGCGCCCCGCAGGGGCGCCCGCCCCTCTCCCCGCCCCCGGCGTGGGCCCGCCCCCGCGCCTGTGTCACTGCGAGGCCGGGGGTGGAGAGCGGCCGGGCGGGACATCCGGCCCGGGTCCCTCGCCGCGCCCGCCGCCCGCCGCCCGCTTCGGCGCCGCAGCCCGGGAGCCGGCCACCCCTACACGCGCCAGGGCTGTCCCCTGCCCTCCCCTCCCCAACTACCCCCGGTCCCAGACCCTCCTCCCGCCCCCAGCCCGAGCCCGCCTTCCAGGCCGCCCTCGGATCGGCCGGGCCCGCGCAGGCCCCCACCCCTTGAGCACCATGTTCCCCCGCCCGCTGACCCCGCTGGCGGCCCCAAATGGCGCCGAGCCCCTGGGCCGGGCGCTGAGGCGGGCCCCTCTGGGCAGGGCCCGGGCGGGGCTGGGTGGGCCGCCCCTGCTGCTGCCGTCCATGCTGATGTTTGCGGTGATCGTGGCCTCCAGCGGGCTGCTGCTCATGATCGAGCGGGGCATCCTGGCCGAGATGAAGCCCCTGCCCCTGCACCCGCCCGGCCGCGAGGGCACAGCCTGGCGCGGGAAAGCCCCCAAGCCTGGGGGCCTGTCCCTCAGGGCTGGGGACGCGGACTTGCAAGTGCGGCAGGACGTCCGGAACAGGACCCTGCGGGCGGTGTGCGGACAGCCAGGCATGCCCCGGGACCCCTGGGACTTGCCGGTGGGGCAGCGGCGCACCCTGCTGCGCCACATCCTCGTAAGTGACCGTTACCGCTTCCTCTACTGCTACGTCCCCAAGGTGGCCTGCTCTAACTGGAAGCGGGTGATGAAGGTGCTGGCAGGCGTCCTGGACAGCGTGGACGTCCGCCTCAAGATGGACCACCGCAGTGACCTGGTGTTCCTGGCCGACCTGCGGCCTGAGGAGATTCGCTACCGCCTGCAGCACTACTTTAAGTTCCTGTTTGTGCGGGAGCCCTTGGAACGCCTCCTCTCTGCCTACCGCAACAAGTTTGGCGAGATCCGAGAGTACCAGCAACGCTATGGGGCTGAGATAGTGAGGCGGTACAGGGCTGGAGCGGGGCCCAGCCCTGCAGGCGACGATGTCACATTCCCCGAGTTCCTGAGATACCTGGTGGATGAGGACCCTGAGCGCATGAATGAGCATTGGATGCCCGTGTACCACCTGTGCCAGCCTTGTGCCGTGCACTATGACTTTGTGGGCTCCTATGAGAGGCTGGAGGCTGATGCAAATCAGGTGCTGGAGTGGGTACGGGCACCACCTCACGTCCGATTTCCAGCTCGCCAGGCCTGGTACCGGCCAGCCAGCCCCGAAAGCCTGCATTACCACTTGTGCAGTGCCCCCCGGGCCCTGCTGCAGGATGTGCTGCCTAAGTATATCCTGGACTTCTCCCTCTTTGCCTACCCACTGCCTAATGTCACCAAGGAGGCGTGTCAGCAGTGACCATGGGTGTGGGGCCAGCAGCTGGTGGGGACTGGTTTCAACGCCAGCTTTCTGTGCTTCTGCCTGTCATTCGGAGAAACTCTGGCTCTGGGGCTTGGGGCTTCTCAGGATCCTGGATGGCAGAGACTGCCCTCAGAAGTTCCTTGTCCAGGGTGGGCACCCACAGTGACTCAGAGGACAGGGCTAGGCAGGAGACCTGCTGCTCCTCATTGGGGGGATCTCTTGGGGGGCAGACACCAGTTTGCCAATGAAGCAACACATCTGATCTAAAGACTGGCTCCAGACCCCGGGCTGCCAGGATTATGCAGTCCACTTGGTCTACCTTAATTTAACCTGTGGCCAAACTCAGAGATGGTACCAGCCAGGGGCAAGCATGACCAGAGCCAGGGACCCTGTGGCTCTGATCCCCCATTTATCCACCCCATGTGCCTCAGGACTAGAGTGAGCAATCATACCTTATAAATGACTTTTGTGCCTTTCTGCTCCAGTCTCAAAATTTCCTACACCTGCCAGTTCTTTACATTTTTCCAAGGAAAGGAAAACGGAAGCAGGGTTCTTGCCTGGTAGCTCCAGGACCCAGCTCTGCAGGCACCCAAAGACCCTCTGTGCCCAGCCTCTTCCTTGAGTTCTCGGAACCTCCTCCCTAATTCTCCCTTCCTTCCCCACAAGGCCTTTGAGGTTGTGACTGTGGCTGGTATATCTGGCTGCCATTTTTCTGATGCATTTATTTAAAATTTGTACTTTTTGATAGAACCCTTGTAAGGGCTTTGTTTTCCTAATAGCTGACTTTTTAATAAAGCAGTTTTATATATAAGGCGAGCATTTCTGTGATTTCCCTTGGAGCTCCTGTGGGCCCAGCAGATCTCCTCGATGTCTGTCTTCCCATGTCAGGGGAGGCAGCCTGTAGATAGAGAAAGTAAGGTATAACTTGGTTGGGCTGGTCCAATGGGCCGTTGCCATTCCATGGAGACTTTGGGGGCTTTCTAATAGGCTATACCAGATCACAGACTCAGATCCTGGGATGTCACCAAAGGGCAAGCCCAGTTAGGAATGGCCTCACGTCCAGAGCATACCTACATGTATTATTCCCTAAAAAAGTAGGTGGGTAGGAGATACGGGATCCTCCTCTTATTCAATAAGAGTTGAATGAGAAGTTCCCCCAGAGCATTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTGAGATGAAGTCTCGATCTGTCACCCAGGCTGCAGTGCAGTAGCACCATCTTGGCTCACTGCAACCTCTACCTCCTGGGTTCTAGCGATTGCCTCAGCCTCCCAAGTAGCTGGGATGATTACAGGCACGCACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTTTTGAACTCCTAACCTCAGGTGATCTGCCCACCTCGGCCCCTCCAAAGTGCTAGGATTACAGGCGTGAGCTACCACGCCTGGCCCCGGACCATTTTCAAATGAAAAAGAAAATTTTTGTGTGAGCAAGGAGATTTTTTTCTGGCACTACAAGGAAGGCAGGCAAGGAGGTTGAGTGAGGGTCAGGCTCTTGTTGACTTAGGTCCAGAGAAAGTTGTGGAAGGAATACAGTTGGAGCAGCAGAGGACAGACTTCAGTATGGCCCATTGCCCCCACTGCTCTCCAGGGATCCCAGGCCCATCAGGAGTTGCTGGGCCCAAGGGAGAGTTGCAAGGCCAGAGCTGGCCCTTCTCTGTTAGCCCTATTTCACACACCCCCAGTGGGAAC
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CTTAGTGGGCGCTGTCCTCAGTACACTTGGGCTCTAATCATATTCCTCTGCTGCTTCAGAGGCTTGCTGGCTCTCTGCAGGCAGCAAGCACATAGCTGGACCAAGTCTGGCTACTGAGCCAGGTTCCCAGTGGGAAATGGTGGTTGCTGACATCCAAAGCACTTCGGGTCTGCTGTCCGCCCAAGTGACCAGCCTGGTGCCATGGAGCACACATCTAGCTCCAGGCAAGGAGACTACGTGCTGTTTCCCTGCTGTTTTGTGCCCCCAGCTCCTCACCCTTCCAAATGTGTGTTGGCCACACCAGCAGCTGATGGACCAATGTGTCAGACCCTCCCCAGAGTGCCCAGTTATCCCACTGCCTCATGAGGAGAAGGCAGAGGAGGGGAGACTCCATTTCCAGACATTTCAGCATTACCCAGTGGACAAGCACTGTAGTCAGTCCCCAGGTATTGCTAAACACAAGGGTCACCATGGAGACTGGTCAGTGTCTGACAGTTCTGCTTCTCCTTCCTGGAGTGGCCACGACCTGCAGGACGGAGGGAGTTAAGGGTGGCAAGGGGGAGCACACCGAGGGCTCCGCTTCCAGCTGGAAAGACCAGCCTCCGGCACGTCTGGACTCGGAGAGAGCGCTGCCCGCCTCCCTGCCTCCAGACCCGTTGCTGGAGGAAGGGCTAGGACAGGCCTGAGTTTGTGGCGAATCCCCCTTGTCCACTTCCCTGAGGACACACGCTGCAGGAGAGCAGCCTCGAGTCTTTTCTGCCTTCGAGGTCTCAGGAGCTTTTGTCCCCAAGCCCAGAGGACAGGGGTGGCCCTGACTCAGGCGCCCTCTTCCGGGTAGGGGTCCGCGTGCGCCCTCCCAAGCCCGCGCCCCGCAGGGGCGCCCGCCCCTCTCCCCGCCCCCGGCGTGGGCCCGCCCCCGCGCCTGTGTCACTGCGAGGCCGGGGGTGGAGAGCGGCCGGGCGGGACATCCGGCCCGGGTCCCTCGCCGCGCCCGCCGCCCGCCGCCCGCTTCGGCGCCGCAGCCCGGGAGCCGGCCACCCCTACACGCGCCAGGGCTGTCCCCTGCCCTCCCCTCCCCAACTACCCCCGGTCCCAGACCCTCCTCCCGCCCCCAGCCCGAGCCCGCCTTCCAGGCCGCCCTCGGATCGGCCGGGCCCGCGCAGGCCCCCACCCCTTGAGCACCATGTTCCCCCGCCCGCTGACCCCGCTGGCGGCCCCAAATGGCGCCGAGCCCCTGGGCCGGGCGCTGAGGCGGGCCCCTCTGGGCAGGGCCCGGGCGGGGCTGGGTGGGCCGCCCCTGCTGCTGCCGTCCATGCTGATGTTTGCGGTGATCGTGGCCTCCAGCGGGCTGCTGCTCATGATCGAGCGGGGCATCCTGGCCGAGATGAAGCCCCTGCCCCTGCACCCGCCCGGCCGCGAGGGCACAGCCTGGCGCGGGAAAGCCCCCAAGCCTGGGGGCCTGTCCCTCAGGGCTGGGGACGCGGACTTGCAAGTGCGGCAGGACGTCCGGAACAGGACCCTGCGGGCGGTGTGCGGACAGCCAGGCATGCCCCGGGACCCCTGGGACTTGCCGGTGGGGCAGCGGCGCACCCTGCTGCGCCACATCCTCGTAAGTGACCGTTACCGCTTCCTCTACTGCTACGTCCCCAAGGTGGCCTGCTCTAACTGGAAGCGGGTGATGAAGGTGCTGGCAGGCGTCCTGGACAGCGTGGACGTCCGCCTCAAGATGGACCACCGCAGTGACCTGGTGTTCCTGGCCGACCTGCGGCCTGAGGAGATTCGCTACCGCCTGCAGCACTACTTTAAGTTCCTGTTTGTGCGGGAGCCCTTGGAACGCCTCCTCTCTGCCTACCGCAACAAGTTTGGCGAGATCCGAGAGTACCAGCAACGCTATGGGGCTGAGATAGTGAGGCGGTACAGGGCTGGAGCGGGGCCCAGCCCTGCAGGCGACGATGTCACATTCCCCGAGTTCCTGAGATACCTGGTGGATGAGGACCCTGAGCGCATGAATGAGCATTGGATGCCCGTGTACCACCTGTGCCAGCCTTCTGCCGTGCACTATGACTTTGTGGGCTCCTATGAGAGGCTGGAGGCTGATGCAAATCAGGTGCTGGAGTGGGTACGGGCACCACCTCACGTCCGATTTCCAGCTCGCCAGGCCTGGTACCGGCCAGCCAGCCCCGAAAGCCTGCATTACCACTTGTGCAGTGCCCCCCGGGCCCTGCTGCAGGATGTGCTGCCTAAGTATATCCTGGACTTCTCCCTCTTTGCCTACCCACTGCCTAATGTCACCAAGGAGGCGTGTCAGCAGTGACCATGGGTGTGGGGCCAGCAGCTGGTGGGGACTGGTTTCAACGCCAGCTTTCTGTGCTTCTGCCTGTCATTCGGAGAAACTCTGGCTCTGGGGCTTGGGGCTTCTCAGGATCCTGGATGGCAGAGACTGCCCTCAGAAGTTCCTTGTCCAGGGTGGGCACCCACAGTGACTCAGAGGACAGGGCTAGGCAGGAGACCTGCTGCTCCTCATTGGGGGGATCTCTTGGGGGGCAGACACCAGTTTGCCAATGAAGCAACACATCTGATCTAAAGACTGGCTCCAGACCCCGGGCTGCCAGGATTATGCAGTCCACTTGGTCTACCTTAATTTAACCTGTGGCCAAACTCAGAGATGGTACCAGCCAGGGGCAAGCATGACCAGAGCCAGGGACCCTGTGGCTCTGATCCCCCATTTATCCACCCCATGTGCCTCAGGACTAGAGTGAGCAATCATACCTTATAAATGACTTTTGTGCCTTTCTGCTCCAGTCTCAAAATTTCCTACACCTGCCAGTTCTTTACATTTTTCCAAGGAAAGGAAAACGGAAGCAGGGTTCTTGCCTGGTAGCTCCAGGACCCAGCTCTGCAGGCACCCAAAGACCCTCTGTGCCCAGCCTCTTCCTTGAGTTCTCGGAACCTCCTCCCTAATTCTCCCTTCCTTCCCCACAAGGCCTTTGAGGTTGTGACTGTGGCTGGTATATCTGGCTGCCATTTTTCTGATGCATTTATTTAAAATTTGTACTTTTTGATAGAACCCTTGTAAGGGCTTTGTTTTCCTAATAGCTGACTTTTTAATAAAGCAGTTTTATATATAAGGCGAGCATTTCTGTGATTTCCCTTGGAGCTCCTGTGGGCCCAGCAGATCTCCTCGATGTCTGTCTTCCCATGTCAGGGGAGGCAGCCTGTAGATAGAGAAAGTAAGGTATAACTTGGTTGGGCTGGTCCAATGGGCCGTTGCCATTCCATGGAGACTTTGGGGGCTTTCTAATAGGCTATACCAGATCACAGACTCAGATCCTGGGATGTCACCAAAGGGCAAGCCCAGTTAGGAATGGCCTCACGTCCAGAGCATACCTACATGTATTATTCCCTAAAAAAGTAGGTGGGTAGGAGATACGGGATCCTCCTCTTATTCAATAAGAGTTGAATGAGAAGTTCCCCCAGAGCATTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTGAGATGAAGTCTCGATCTGTCACCCAGGCTGCAGTGCAGTAGCACCATCTTGGCTCACTGCAACCTCTACCTCCTGGGTTCTAGCGATTGCCTCAGCCTCCCAAGTAGCTGGGATGATTACAGGCACGCACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTTTTGAACTCCTAACCTCAGGTGATCTGCCCACCTCGGCCCCTCCAAAGTGCTAGGATTACAGGCGTGAGCTACCACGCCTGGCCCCGGACCATTTTCAAATGAAAAAGAAAATTTTTGTGTGAGCAAGGAGATTTTTTTCTGGCACTACAAGGAAGGCAGGCAAGGAGGTTGAGTGAGGGTCAGGCTCTTGTTGACTTAGGTCCAGAGAAAGTTGTGGAAGGAATACAGTTGGAGCAGCAGAGGACAGACTTCAGTATGGCCCATTGCCCCCACTGCTCTCCAGGGATCCCAGGCCCATCAGGAGTTGCTGGGCCCAAGGGAGAGTTGCAAGGCCAGAGCTGGCCCTTCTCTGTTAGCCCTATTTCACACACCCCCAGTGGGAAC
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Task1_train_20531
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Given a variant located on Chromosome 15 and affecting KNL1 (kinetochore scaffold 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Microcephaly 4, primary, autosomal recessive
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TTAACTTTTCCGTATTTTAGATTAAAGCTTTCTGCATCGAACCAAGATAAGCTGTTGGTTGATATAAATAAGAACCTGTGGGAAAAAATGAGACACTGCTCTGACAAAGAGGTACTTTTGTCTCATTTTCTGAATGAGAATCAGTGAAGACATTCTGAACGATGTTTATTGTGAAATGAGTAACTGTTACTTGGTCATAGTGATGAGTTATTTAACTTATTTTTTAAGTGTAATGTGGTACCAAGGTCTTATTTAATTACACACAATTGTTAATATATAATCTTTTCAAACCTGAGATGATCAATTTAATATATGAAATATAGTTGAAGTTTATTTAGAGTTCCCTCCTTGCTATTTGCCTTTCACTTAGATTTAGACGAAGAAAAGATTTACTTTAATTGATTAAATAGCAAGCAACCCATTTTATATGTGCCCTAATATATTAAAAAGTTTCATTAACTAAGAGCCTGTCATTTTCTAATTTATAATATGAATAAGTGAATTAAAGGCAGGAATCAAAACTGAAATCTTTTTTCTGGTCTTAGACAATTACATGGAATTAAATTTGCAAATGACAAATATCCTGCCTTAGGATAGGCAAAGCCTAGCCTTCCTAGACCATTTACCTCTTCTGACTCGTTTGTTTTAGTACAGTGTTCTCTATAACTTTCCCTTCCAGCTGAAGGCCTTTGGAATTTATCTTAACAAAATAAAGTCATGTTTTACCAAGATGACTAAAGTCTTCACTCACCAAGGAAAAGTGGCTCTGTATGGCAAGCTGGTGCAGTCAGCTCAGGTAATTTGAGACAGTTAATATCATAGAAAGAGAGAGATATTAAAATTACTTTCTAATGGTTATAGAATATGAAGAATCTTCCTTAGAAGACATGTGAATAAGACTTGGGCAAAAACTTAACAATTAAGAGGTAAGGTTCAATTTGTCAAAAGTGGCAAATCCTGACATCTTGAGTAATACTGGAATATAATTACTAATGTGGGCCTATGTCTCATCTCAAATACTATTATCCATCATACATACTGAAATAAAATACATAGGATTCTGGTCTCCCATTGCTAAGGACTATACCATAGTATTATCTTCTTCATAGTCCATACTAAGCTGTATATGTATGCACATGTGTTTAAAGTAGCATTTCCCAAAATGATTAGCTTTTTTAAAAGGCTCTGCATAAAAAAACTTTCCATTGGCAAGTAAGTATGGGAAATGTTGCAAGCAATATGCCCTTTCAGAGAAACATAATTTTTTAAAGTCTAAGCATAAATGCTGTAATTCTTTTTGACCACTGTTTCCTATGTTTAGTTTATCATAGAAATGTTTTTAAGTAATAAATATTAATATATTGTATTCCATGGAACACCTATAGAAATGCTAAAATAAAGTACCAGAATTAGTTTTATGTCAATATGCTTTTTAAATTATTTCATTTTCTTTTAATAAAATATTTTATTAAATTTATAAAATAAACATTTTATTTTCCAGAGTTCTTTTGGCTAAAACTTATTTTAATAAAATTTACTTTTATTTTTTAAGTTCCAACCTAAAGCTTTGACCTTCATTTTAAGATTTGCCTGTTTGTAGGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCAGGCACCTGTAGTCCCAGCTAATCAGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAATGAGCCCAGATGGCGCCACTGCACTCCAGCCTGGGTAACAGAATGAGACTCCGCCTCAAAAAAAAAAAAAAAAAAAAAAGATTTGCCTGTTTGTGATCATGATAGAGCGATTATGTGAGCAGTTTGAACCATTTATAATATTTTCTTTAGAGGTTTAACTTGACAGTCTATAATCTTTTGTATTTAGAATGAGAGGGAGAAACTTCAAATAAAGATAGATGAGATGGATAAAATACTTAAGAAGATCGATAACTGCCTCACTGAGATGGAAACAGGTAAAGTATTTTAAATACTTTTCCAAAAGAAAATTTAATTTTATCTAAATGCTCTCCTACAGTAGAGAATGTTGGTACCACGATATTGAAGACTTGTATTAGCAACTTGAGATATTAAATTAGAGTAAATTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATTTTAAAATTAGCTGGGCGTGGTGACGGGCGCCTGTACTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATAGTTTGAACCCAGGATGTGCAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGTGGCAGAGCGAGACTCCATCTCAAAAAAAATAATAATAAAATAAATAAATAAATAAATTAGAGCAAATTAAAGTTCCTTTACTATAGTCATCCATAATACAATCAAGAGCTGCTCAAGATAACCCAGACTGTAATTTTGTGTTTTTTAATAGATGAATTTATCTCAGTTTGAAAACCGTCTATCCTTTCAGTTTGGTCTTTCATAATCCCAACTTTTTAGAGTTACTCTCCTGAAACTCCTTTCTCAAAGATCACATAATTCTGCATAGTCATCAAATTTTGTTCTTCTCAGTCCTTAGCCATTTTGACCTCTTTCAGCATTTGACACTGATGACTGTTCTTTTCTTCCTGAAATGTTCATCTCCCTTAATCTCTGTGATAATGCACTATCTTGACCCAGTTGTTTTCTCCTGGCTGCTCAATCCAGCTTCTCTGTTGGCCTCTCTTTCTCTAACTGATCCCTTGTGGGGATTTAGATTTTATCATCTGTTCTTTTCTATATTCTCTCCCCTAGTGCTTTCGTGTGCCTTAATAATTATGTGACTGATTCCCAAATTTAAATTCCTCAAGCATTTTTTGAGCATATACTGCATGCCAGATACTGTGCTTAGTATCAGAAAATAAATAAAAATATTTAAGACACAGATTTTGCCCTAAAGGTAGCTTATAATCATTTCAGGTGAGGGCATCTTTAGCCTCTCTTTCTTGAATTCTAGACTCAATTTCTAGCTTCCTTCTGAACCTGTATGCAAAAAATATCCTTAAACACCTTAAACTGTGAATACAGCCTGGGCAACAGAGTGAGGCACTATCTCTACAAAAAACAAGAGATTAGCTCAGCGTGATGGCACATACCTGTAGTCCTAGCTACTTGGGAGGCTGAGGCAGGAAGATCTCTTGAGCCCAGGAGGTCAAGACTACAGTGAGGCAAGATCACACCACTGCACTCCAGCCTGTGCAACAGAGCAAACTAAATAAATAAATTTAAATATATTCTCCGAGCTCAAAAATAAAATTCAAAAACTTGTTCTCTCTTATGATGTTTCTCATCTTTATGTATAGCAGTCACAATTCTTATACATTGTAAAAGCTCAATACTTTCATTGTCTTTGAGGCTCTCTTAACAAGTCCTGTCATCGGCAGCTTCAGCATCTCATGTGTTTATTTTCCTTTCCTATTAAGGCTCACCTTAATTCTGAACTGTGCTATTTCAGTCTTCTAACTAATCTTTATACATTCTTACCATTATTCCACCTTCTTCCATTCCAACCTGCACATTGCTGCCAGATTAATAATTATGAAAGACAGTTTTCATTAATGTTACTCCTCTGAAAAACTTCTGTCTTTCCATTTATTATAAAGTCCAAACTTAACTTTCTTTTTTTTTTTTTTTTTTGAGATGGTATTTCACTGTCGTTACCCAGGCTGGAGTCAATGGCACAATCTCTGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCGATTTTCCTGCCTGAGCTTCCCGAGTAGCTGGGATTACAGGCATGCACCACCAGGCCCTGCTAATTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGATCTCGAACTCCCGACCTCA
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TTAACTTTTCCGTATTTTAGATTAAAGCTTTCTGCATCGAACCAAGATAAGCTGTTGGTTGATATAAATAAGAACCTGTGGGAAAAAATGAGACACTGCTCTGACAAAGAGGTACTTTTGTCTCATTTTCTGAATGAGAATCAGTGAAGACATTCTGAACGATGTTTATTGTGAAATGAGTAACTGTTACTTGGTCATAGTGATGAGTTATTTAACTTATTTTTTAAGTGTAATGTGGTACCAAGGTCTTATTTAATTACACACAATTGTTAATATATAATCTTTTCAAACCTGAGATGATCAATTTAATATATGAAATATAGTTGAAGTTTATTTAGAGTTCCCTCCTTGCTATTTGCCTTTCACTTAGATTTAGACGAAGAAAAGATTTACTTTAATTGATTAAATAGCAAGCAACCCATTTTATATGTGCCCTAATATATTAAAAAGTTTCATTAACTAAGAGCCTGTCATTTTCTAATTTATAATATGAATAAGTGAATTAAAGGCAGGAATCAAAACTGAAATCTTTTTTCTGGTCTTAGACAATTACATGGAATTAAATTTGCAAATGACAAATATCCTGCCTTAGGATAGGCAAAGCCTAGCCTTCCTAGACCATTTACCTCTTCTGACTCGTTTGTTTTAGTACAGTGTTCTCTATAACTTTCCCTTCCAGCTGAAGGCCTTTGGAATTTATCTTAACAAAATAAAGTCATGTTTTACCAAGATGACTAAAGTCTTCACTCACCAAGGAAAAGTGGCTCTGTATGGCAAGCTGGTGCAGTCAGCTCAGGTAATTTGAGACAGTTAATATCATAGAAAGAGAGAGATATTAAAATTACTTTCTAATGGTTATAGAATATGAAGAATCTTCCTTAGAAGACATGTGAATAAGACTTGGGCAAAAACTTAACAATTAAGAGGTAAGGTTCAATTTGTCAAAAGTGGCAAATCCTGACATCTTGAGTAATACTGGAATATAATTACTAATGTGGGCCTATGTCTCATCTCAAATACTATTATCCATCATACATACTGAAATAAAATACATAGGATTCTGGTCTCCCATTGCTAAGGACTATACCATAGTATTATCTTCTTCATAGTCCATACTAAGCTGTATATGTATGCACATGTGTTTAAAGTAGCATTTCCCAAAATGATTAGCTTTTTTAAAAGGCTCTGCATAAAAAAACTTTCCATTGGCAAGTAAGTATGGGAAATGTTGCAAGCAATATGCCCTTTCAGAGAAACATAATTTTTTAAAGTCTAAGCATAAATGCTGTAATTCTTTTTGACCACTGTTTCCTATGTTTAGTTTATCATAGAAATGTTTTTAAGTAATAAATATTAATATATTGTATTCCATGGAACACCTATAGAAATGCTAAAATAAAGTACCAGAATTAGTTTTATGTCAATATGCTTTTTAAATTATTTCATTTTCTTTTAATAAAATATTTTATTAAATTTATAAAATAAACATTTTATTTTCCAGAGTTCTTTTGGCTAAAACTTATTTTAATAAAATTTACTTTTATTTTTTAAGTTCCAACCTAAAGCTTTGACCTTCATTTTAAGATTTGCCTGTTTGTAGGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCAGGCACCTGTAGTCCCAGCTAATCAGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAATGAGCCCAGATGGCGCCACTGCACTCCAGCCTGGGTAACAGAATGAGACTCCGCCTCAAAAAAAAAAAAAAAAAAAAAAGATTTGCCTGTTTGTGATCATGATAGAGCGATTATGTGAGCAGTTTGAACCATTTATAATATTTTCTTTAGAGGTTTAACTTGACAGTCTATAATCTTTTGTATTTAGAATGAGAGGGAGAAACTTCAAATAAAGATAGATGAGATAGATAAAATACTTAAGAAGATCGATAACTGCCTCACTGAGATGGAAACAGGTAAAGTATTTTAAATACTTTTCCAAAAGAAAATTTAATTTTATCTAAATGCTCTCCTACAGTAGAGAATGTTGGTACCACGATATTGAAGACTTGTATTAGCAACTTGAGATATTAAATTAGAGTAAATTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATTTTAAAATTAGCTGGGCGTGGTGACGGGCGCCTGTACTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATAGTTTGAACCCAGGATGTGCAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGTGGCAGAGCGAGACTCCATCTCAAAAAAAATAATAATAAAATAAATAAATAAATAAATTAGAGCAAATTAAAGTTCCTTTACTATAGTCATCCATAATACAATCAAGAGCTGCTCAAGATAACCCAGACTGTAATTTTGTGTTTTTTAATAGATGAATTTATCTCAGTTTGAAAACCGTCTATCCTTTCAGTTTGGTCTTTCATAATCCCAACTTTTTAGAGTTACTCTCCTGAAACTCCTTTCTCAAAGATCACATAATTCTGCATAGTCATCAAATTTTGTTCTTCTCAGTCCTTAGCCATTTTGACCTCTTTCAGCATTTGACACTGATGACTGTTCTTTTCTTCCTGAAATGTTCATCTCCCTTAATCTCTGTGATAATGCACTATCTTGACCCAGTTGTTTTCTCCTGGCTGCTCAATCCAGCTTCTCTGTTGGCCTCTCTTTCTCTAACTGATCCCTTGTGGGGATTTAGATTTTATCATCTGTTCTTTTCTATATTCTCTCCCCTAGTGCTTTCGTGTGCCTTAATAATTATGTGACTGATTCCCAAATTTAAATTCCTCAAGCATTTTTTGAGCATATACTGCATGCCAGATACTGTGCTTAGTATCAGAAAATAAATAAAAATATTTAAGACACAGATTTTGCCCTAAAGGTAGCTTATAATCATTTCAGGTGAGGGCATCTTTAGCCTCTCTTTCTTGAATTCTAGACTCAATTTCTAGCTTCCTTCTGAACCTGTATGCAAAAAATATCCTTAAACACCTTAAACTGTGAATACAGCCTGGGCAACAGAGTGAGGCACTATCTCTACAAAAAACAAGAGATTAGCTCAGCGTGATGGCACATACCTGTAGTCCTAGCTACTTGGGAGGCTGAGGCAGGAAGATCTCTTGAGCCCAGGAGGTCAAGACTACAGTGAGGCAAGATCACACCACTGCACTCCAGCCTGTGCAACAGAGCAAACTAAATAAATAAATTTAAATATATTCTCCGAGCTCAAAAATAAAATTCAAAAACTTGTTCTCTCTTATGATGTTTCTCATCTTTATGTATAGCAGTCACAATTCTTATACATTGTAAAAGCTCAATACTTTCATTGTCTTTGAGGCTCTCTTAACAAGTCCTGTCATCGGCAGCTTCAGCATCTCATGTGTTTATTTTCCTTTCCTATTAAGGCTCACCTTAATTCTGAACTGTGCTATTTCAGTCTTCTAACTAATCTTTATACATTCTTACCATTATTCCACCTTCTTCCATTCCAACCTGCACATTGCTGCCAGATTAATAATTATGAAAGACAGTTTTCATTAATGTTACTCCTCTGAAAAACTTCTGTCTTTCCATTTATTATAAAGTCCAAACTTAACTTTCTTTTTTTTTTTTTTTTTTGAGATGGTATTTCACTGTCGTTACCCAGGCTGGAGTCAATGGCACAATCTCTGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCGATTTTCCTGCCTGAGCTTCCCGAGTAGCTGGGATTACAGGCATGCACCACCAGGCCCTGCTAATTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGATCTCGAACTCCCGACCTCA
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Task1_train_20532
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This variant affects gene RAD51 (RAD51 recombinase) located on Chromosome 15. Evaluate its biological effect and specify any disease association.
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Pathogenic; Fanconi anemia complementation group R
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TCTGTCACCCAGGCTGGAGTGCAGTGGCATGGTCTCAGCTCACTGCAACCTCTGCTTCCTGGGCTCAAGTGATCTTCTAGCCTCAGTCTCCCCAAGCTAGGACTATGATCATTTACCACCTGGCTAATTTTTTTTTTTTTTTTTTTTTTTTTTGAGTCGGGGCATCACTCATTATGTTGCCCAGGCTGGTCTCAAAATCCTGAGCTCAAGCCATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCTTGAGCCACCTTGCCTGGCCCAATGTCAGTTTTCTTTCCCTTTTTTTTGAGACAGAGTCTCACTCTGTTACCCAGGCTGGAGTGCAGTGGCATAATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCAAGTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGAGGTTTCACCACGTTGGCTAGGTTGGTCTCGAACTCCTGACCTCAGATGATCTACCCGCCTCAGCCTCCCAAAGTGCTGGGCTTACAGGCGTGAGCCATCATGCCTGGCCCCCAATGTCAGTTTTCTAATATCAGTGCTATACTATCATTATGCAAGAGGTTAACACTGCAGAAGGCTAGGTGCATAGAAATTTCGTATGTTTTTTTTTGTTGTTGTTGGTTTGTTTGTTTGTTTTTTAAAGACAGAGTCTTGCTCTGTTGCCCAGGCTAGAATGCAGTGGCACAATCTCGGCTCATTGCAACCACTGACTCCCAGGTTTGAGCAGTTCTCCTGCCTCAGTCTCCTGAGTAGCTGCAATGACAGGCACCCGCCACCGTGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCGTCTTGGCCAGGCTGGTCTCAAAGTCCTGACCTCCTGATCCATCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCAGCTTTTTTTTTTTTTTTTTTTTTTGAGATGGGGTCTTGCTATGTCACCCCGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCCACTTCCGCCCCCAGGTTCAAGCTATTCTTCTGCCTCCGCCTCCCGAGTAGCTGGGACTACAGGCATGCACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATATTGTGCCCAGCTTTTTTTTTTTTTTTTTTGAGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTTGCTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCTTCAGCCTGCTAGTAGCTGGGATTACAGGTGCCCATCACCAGTTCCAGCTAAGTTTTGTATTTTTAGTAGACATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCGAGCTCCTGACCTCAGGTGATCAGCCCGCCTCGGCCCCCTAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCTTATTTGCAGCTATCTATAAATCTAATTATTTCAAAATACTTTTGGTTTATTTGTTTGTTTGTTTGTTTGTTTTGAAACAGGGTCTCACTGTGTCACCCAGGCTAGAGTGCACTGGCACGATTTTGGCTCACTGCAACTTCTGCCTCCCAGGCTCAAGTGATCCTCTCACCTTAGCTCCTGAGTAGCTGGTACTACAGGCATCCGCCACCATGCCCGGCTAATTTTTGTAGAGACAGGGCTTCACCATGTTGCCCAGGCTGGTCTCGAACTCCTGAACTCAAGCAATCCACCCACCTAAGCTTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCACGGCTAGCCTCAAAATACATTTGTGAAAAATTATCGCTTGTTGGAAATTGAATTTTTAACTTACATAAACATCTTTCTGATGAGCTCCAAGAACATTTCTATGACTACAGTTTCTACATGTTTGTATTATGCTAAGAGTTATTTCTTATCGCTTTTTTAGGTGGAATTGAGACTGGATCTATCACAGAAATGTTTGGAGAATTCCGAACTGGGAAGACCCAGATCTGTCATACGCTAGCTGTCACCTGCCAGGTGAGCTGTTGGGGCTATAGCTAATCAAATAAGCAAGCATTACTTCATTCCTGCTATTTGCAAGCATCTGTTAGGATGGCCATAAAAGGTACTTTCTCTGTCCTCAAGAATCTTATAGCTGTTAATAGTTAGAAGATAGACTCCTACTTCAAAATCCTTCCATGTCATAGAAACTTCCAAATCATTGATCTCCTATCAGATACGTTAATTTCAAATACTTTTGCTACCAGGCCTTTTCCTGGCTTTACTTGCTACTTTTTTTTTTTTTTTTTTTTTTTGAGGCAGAATCTCGCTGTGTCGCCCAGGCTGAAGTACAGTGGTGTGATCTCAGCTCACTGCAACCTCCTCTCTGGTTCAAGTGATTCTCCTTCATCAACCTCCCGAGTACCTGGGATTACAGGCGCCCACCAGCATGCCCGGCTAATTTTTGTGTTTTTAGTAGAGAGGGGGTTTCACCATGTTGGCCAGGCTCCTCTTGAACTCCTGATCTCAAGTGATCCACCCACCTTGGCCTCCCAAGTGCTGGAATTATAGGCGTAAGCCACTGCGCCCAGCCCTCCATCTTCTTCATTAGTCTAGATTTTATGATTCATCATTAAAGTAATTCTCTTGCAGATAGCCTCAGTTTACATACCCACTTGAAGAGATGCCAACCTTAGATGAAACTCATCTATCTTCTCAGTGTCTGTACCCAAATAGCTGATTATACTGGAGAAAAATCGTATCATACAGCTGACTGACTTCACTTTAAATTCAAGATGACAGGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGCGGGTGGATCACTTGAGATCAAGAGTTTGGCTGGGCGCGGTGACTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGTTGGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCACAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGAAGAAAAAAAAAAGATCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGTTGGCACGTGCCTGTAATCCCAGTTACTTGGGAGACTGAGGCAGGAGAATCGCTTGAACCCGGGGGGCAGAGGTTGCAGGGAGCTGAGATCGCACCATTGCATTCCAGCCTGGTCAAAGAAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAGAATGAAAAAAGGAAAAAAATTCAAGATGACAAAACTTTAGATTAACATTCAAAACTTCTTGGCAGTCTACTTTCTCCATTTAGGTGTACTTTCCCACTGAGTTAGACAGGCATCTCATATCTCATACTTCGTCTTCTGTTATCAGAACTTTATGCTCCTCTTCAACTCTCATTCTTAGCCAAAAACCTAACCTGCTCTTTGCATCAAATCTACATTTGTGCCCATCTTTTCTTATCTCAGGTTACAATTGAGAAAGTGTCCCTTTTCTTCTCAAAGGCCCATTCTATCAATATGATTTGGTTACCATCTCCTGCCACCTTCTCAAGGACTCTACTCCTTCCATTTTCTCTTGTACCTCTCTATGAGATTATCCTCATCAGTATACAAATATGTCTAGTGTCTCCTCCATTAGGAAAAAACCTTCCCTGGACCCCTTCAGTTTCTTTTTCCTTTACTTATGCTCCTATTGGTGGGAAGATTTGGAAATAGACACAGTAGGTTAAATAATTGCCCAATACATTGTATTTAAGTAGCAAATACTGGACTCAAACCAGACTTCAGAGATGATGTTCTTAAAACTTCATAAGAGGCCAG
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TCTGTCACCCAGGCTGGAGTGCAGTGGCATGGTCTCAGCTCACTGCAACCTCTGCTTCCTGGGCTCAAGTGATCTTCTAGCCTCAGTCTCCCCAAGCTAGGACTATGATCATTTACCACCTGGCTAATTTTTTTTTTTTTTTTTTTTTTTTTTGAGTCGGGGCATCACTCATTATGTTGCCCAGGCTGGTCTCAAAATCCTGAGCTCAAGCCATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCTTGAGCCACCTTGCCTGGCCCAATGTCAGTTTTCTTTCCCTTTTTTTTGAGACAGAGTCTCACTCTGTTACCCAGGCTGGAGTGCAGTGGCATAATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCAAGTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGAGGTTTCACCACGTTGGCTAGGTTGGTCTCGAACTCCTGACCTCAGATGATCTACCCGCCTCAGCCTCCCAAAGTGCTGGGCTTACAGGCGTGAGCCATCATGCCTGGCCCCCAATGTCAGTTTTCTAATATCAGTGCTATACTATCATTATGCAAGAGGTTAACACTGCAGAAGGCTAGGTGCATAGAAATTTCGTATGTTTTTTTTTGTTGTTGTTGGTTTGTTTGTTTGTTTTTTAAAGACAGAGTCTTGCTCTGTTGCCCAGGCTAGAATGCAGTGGCACAATCTCGGCTCATTGCAACCACTGACTCCCAGGTTTGAGCAGTTCTCCTGCCTCAGTCTCCTGAGTAGCTGCAATGACAGGCACCCGCCACCGTGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCGTCTTGGCCAGGCTGGTCTCAAAGTCCTGACCTCCTGATCCATCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCAGCTTTTTTTTTTTTTTTTTTTTTTGAGATGGGGTCTTGCTATGTCACCCCGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCCACTTCCGCCCCCAGGTTCAAGCTATTCTTCTGCCTCCGCCTCCCGAGTAGCTGGGACTACAGGCATGCACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATATTGTGCCCAGCTTTTTTTTTTTTTTTTTTGAGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTTGCTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCTTCAGCCTGCTAGTAGCTGGGATTACAGGTGCCCATCACCAGTTCCAGCTAAGTTTTGTATTTTTAGTAGACATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCGAGCTCCTGACCTCAGGTGATCAGCCCGCCTCGGCCCCCTAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCTTATTTGCAGCTATCTATAAATCTAATTATTTCAAAATACTTTTGGTTTATTTGTTTGTTTGTTTGTTTGTTTTGAAACAGGGTCTCACTGTGTCACCCAGGCTAGAGTGCACTGGCACGATTTTGGCTCACTGCAACTTCTGCCTCCCAGGCTCAAGTGATCCTCTCACCTTAGCTCCTGAGTAGCTGGTACTACAGGCATCCGCCACCATGCCCGGCTAATTTTTGTAGAGACAGGGCTTCACCATGTTGCCCAGGCTGGTCTCGAACTCCTGAACTCAAGCAATCCACCCACCTAAGCTTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCACGGCTAGCCTCAAAATACATTTGTGAAAAATTATCGCTTGTTGGAAATTGAATTTTTAACTTACATAAACATCTTTCTGATGAGCTCCAAGAACATTTCTATGACTACAGTTTCTACATGTTTGTATTATGCTAAGAGTTATTTCTTATCGCTTTTTTAGGTGGAATTGAGACTGGATCTATCACAGAAATGTTTGGAGAATTCCGACCTGGGAAGACCCAGATCTGTCATACGCTAGCTGTCACCTGCCAGGTGAGCTGTTGGGGCTATAGCTAATCAAATAAGCAAGCATTACTTCATTCCTGCTATTTGCAAGCATCTGTTAGGATGGCCATAAAAGGTACTTTCTCTGTCCTCAAGAATCTTATAGCTGTTAATAGTTAGAAGATAGACTCCTACTTCAAAATCCTTCCATGTCATAGAAACTTCCAAATCATTGATCTCCTATCAGATACGTTAATTTCAAATACTTTTGCTACCAGGCCTTTTCCTGGCTTTACTTGCTACTTTTTTTTTTTTTTTTTTTTTTTGAGGCAGAATCTCGCTGTGTCGCCCAGGCTGAAGTACAGTGGTGTGATCTCAGCTCACTGCAACCTCCTCTCTGGTTCAAGTGATTCTCCTTCATCAACCTCCCGAGTACCTGGGATTACAGGCGCCCACCAGCATGCCCGGCTAATTTTTGTGTTTTTAGTAGAGAGGGGGTTTCACCATGTTGGCCAGGCTCCTCTTGAACTCCTGATCTCAAGTGATCCACCCACCTTGGCCTCCCAAGTGCTGGAATTATAGGCGTAAGCCACTGCGCCCAGCCCTCCATCTTCTTCATTAGTCTAGATTTTATGATTCATCATTAAAGTAATTCTCTTGCAGATAGCCTCAGTTTACATACCCACTTGAAGAGATGCCAACCTTAGATGAAACTCATCTATCTTCTCAGTGTCTGTACCCAAATAGCTGATTATACTGGAGAAAAATCGTATCATACAGCTGACTGACTTCACTTTAAATTCAAGATGACAGGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGCGGGTGGATCACTTGAGATCAAGAGTTTGGCTGGGCGCGGTGACTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGTTGGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCACAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGAAGAAAAAAAAAAGATCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGTTGGCACGTGCCTGTAATCCCAGTTACTTGGGAGACTGAGGCAGGAGAATCGCTTGAACCCGGGGGGCAGAGGTTGCAGGGAGCTGAGATCGCACCATTGCATTCCAGCCTGGTCAAAGAAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAGAATGAAAAAAGGAAAAAAATTCAAGATGACAAAACTTTAGATTAACATTCAAAACTTCTTGGCAGTCTACTTTCTCCATTTAGGTGTACTTTCCCACTGAGTTAGACAGGCATCTCATATCTCATACTTCGTCTTCTGTTATCAGAACTTTATGCTCCTCTTCAACTCTCATTCTTAGCCAAAAACCTAACCTGCTCTTTGCATCAAATCTACATTTGTGCCCATCTTTTCTTATCTCAGGTTACAATTGAGAAAGTGTCCCTTTTCTTCTCAAAGGCCCATTCTATCAATATGATTTGGTTACCATCTCCTGCCACCTTCTCAAGGACTCTACTCCTTCCATTTTCTCTTGTACCTCTCTATGAGATTATCCTCATCAGTATACAAATATGTCTAGTGTCTCCTCCATTAGGAAAAAACCTTCCCTGGACCCCTTCAGTTTCTTTTTCCTTTACTTATGCTCCTATTGGTGGGAAGATTTGGAAATAGACACAGTAGGTTAAATAATTGCCCAATACATTGTATTTAAGTAGCAAATACTGGACTCAAACCAGACTTCAGAGATGATGTTCTTAAAACTTCATAAGAGGCCAG
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Task1_train_20533
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This sequence change occurs on Chromosome 15, altering RAD51 (RAD51 recombinase). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Mirror movements 2
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CCACATCAGCCTCCCAAATTGCTGGGATTACAGGTGTGAGCCACTGCGCCCAGCCATATCAGTGTTTCTTGAGGCAGAACTAGAAGACTTGTGCAGTAAAGTACTTACACCTGTTACATCTTTTTTTTTTCACCATACATTCATGATCTAAATAGAGAAAACTTATATCTCTTCATTCTTGTTTTATTTGGTCAGGATCGTAAGGTGTAACTCTATCCTAATGCCATCTGTTTATCCTCATGACAGAATCGTGAACCTAGAACATAATCATAGCACACTGGGTTTTATGTAAACATTCTCTTTTTTTTTTTTTTTTTGAGATGGAATCTCACTCTGTCACCCAGTCTGGTGTGCAATGGTATGATCTCGACTCACTGCAACTTCTGTCTCCCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGACCAGGCTGGTCTCCGACTCCTGACATCAGGTGATCCACCTGCCTCGGCATCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCACCTGGCCCTCAAAGAATAGGTTTGATTTAGGTCAGGCGTGGTGGCTCACGCCTGTAGTCCCAGTATTTTGGGAGGCCAAGGTGGGCGGATTATGAGATCAGGAGGTCAAGACCAGCCTGATCAATATGGTGAAACCCTGTCTCTACTAAAAATAAAAATATTAGCTATGCATGGTGCTGCATAGCTCCATGCTACTTTGGAGGCTGAGGCAGGAGAATCGCGTGAACCCAGGAGGTGGAGGTTGCAATGAGATCACGCCGCTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAGAAAAAAAAAAAAGAATGGATTTGATTTATCCCAAAGACTTGCCAGGTAGAGCTCCAGAGTAGTTGGGTGCTATCATCTCTCTGCTTATAGTTTGCCTGAACTTCTTAATAGAAAGGGAAATACATTCTTTGGTCCTGAAACTACTGTCAGTACCACTTCTTCCCTACCTATTCAGGTAATTTAAGTGTCAGAAACAAATTGCTCATCTGCCTGAGTTCTGTGTGCAGCCTAAAAATGTTCTCTCCTCTCTCATAGGTATGGTCTCTCTGGCAGTGATGTCCTGGATAATGTAGCATATGCTCGAGCGTTCAACACAGACCACCAGACCCAGCTCCTTTATCAAGCATCAGCCATGATGGTAGAATCTAGGTATGTGTTCAGTATAAGACACCAAATATGTTCTTAAGAGTCCTTCCCTGAATCTTGTAATGGCTATTTGGCCAGATTGATAGTAGTTTGAATTAGAAATGAGGAGGTTTAAGTATAATTCCTGTGTTGACACTCTTGCTTTGTAGTTTAGGTCAAGTCACTATTAAAAATGAAACCATAATCTACTTGAACTTGCTGGAAATCTTGTTAAACGGTGCCTCAGATGTTAGTACTGTGCAAATATTTTAATAAAACATCTATATACAGGCCGGGCGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACAAGGTCAGGAGATCGAGAACATCCTGGCTAACACGGTGAATCCGTCTCTACTAAAAAAATACAAAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCCGGAGGCTGAAGCAGGAGAATGGAGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCAAGAATGCCCCACTGCACTCCAGCCTGGGCGACAGAGCTAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAATCTGTATACAGGAAAAACTATGAATATGAGATTTTAGGGTGGTAAGGAAGGGACCAGAATCTGACACAGGCTAGAAATAGGCTTCAGAGAATCCTTGTTTCCTGTAGGTATGCACTGCTTATTGTAGACAGTGCCACCGCCCTTTACAGAACAGACTACTCGGGTCGAGGTGAGCTTTCAGCCAGGCAGATGCACTTGGCCAGGTTTCTGCGGATGCTTCTGCGACTCGCTGATGAGGTAAGTTGTGGGATAGGGACAGAGAATGCCTACTTTCAGTGGCTGTGAATTCCAGGAGCCTTGCTAGGAGGCTAAGACATCAGTGCCTGAGATCATCAAGCTCTTAGGAAGAAGAGAGACATTAGTTATTCGTTATTTTGTGGGGGAAAGTGGTGGCAGCATTAAGGCTTTTGGAGTGTCTATGGCCACAAAATTGACATTTATCCTTTCCCCATCAGTTTGGTGTAGCAGTGGTAATCACTAATCAGGTGGTAGCTCAAGTGGATGGAGCAGCGATGTTTGCTGCTGATCCCAAAAAACCTATTGGAGGAAATATCATCGCCCATGCATCAACAACCAGGTAAGGTGTTGATGGGATCAGTTCTTCTTTTCGGAATGTCATATTAACTGTGAAGACATGAAGATATAACATTTTCATTTAAGCCCTGTTAAAGCTACTGTTGTATAGACACTTAGGAACTCTTGCTAATCTAATTAACATGCTCTCGTTGGTATAGATGTTTTAGTTCATAAAAGAATTAAAAACCCACAAGTGTGGAAGAATGAATATGAGTAATTGATATGCCTCTCCCCTGTTATTTAAAAAATGTTTGGGCTGGGCACAGTGGCTCACACTGGTAATCCCAACACTTTGGGAGGCCAAGGTGATAGGATGGTTTGAGGCCAGGAATTCGACACTAGTAAGGGCAACAAAGTGAGGCCTCTGTCTCTACAAAAAAAAGTAGCTGGTGTGGTGGCGTGTGCCTGTAGTCTTAGCTACCCAGGAGACTGAGGCAGGAGGATCAGTTGAGCATAGGAATTCGAGGCTGTATTGAGCTATGATCACACATCACTGCACTCCAGCCTGGCAAAAGAGCAGGACACTGTCTTGAAAAAATTTTTTTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCACCCGCCACCACACCTGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACAGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCAACTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCCTAAATTTTTCTTTTTTTAATGTTTGTTTCAATATGGACAATCCACTGAGAGGGGCCAGGGCAAAAATGGATTCTGCCAGGTTGGAAATGCACTAAGGAAAACAGTACAGAAACATTCCCAGGGTCCTTCTAGGAAGAATATATGTCTAAAAAATTTTCAGCTCTGTTACAAAGTCAGGAACGGAATTGTTTAATTATAATAAATTGGTGCTTTGGTCTGTGTCTTTGGGTCAGATTGTATCTGAGGAAAGGAAGAGGGGAAACCAGAATCTGCAAAATCTACGACTCTCCCTGTCTTCCTGAAGCTGAAGCTATGTTCGCCATTAATGCAGATGGAGTGGGAGATGCCAAAGACTGAATCATTGGGTTTTTCCTCTGTTAAAAACCTTAAGTGCTGCAGCCTAATGAGAGTGCACTGCTCCCTGGGGTTCTCTACAGGCCTCTTCCTGTTGTGACTGCCAGGATAAAGCTTCCGGGAAAACAGCTATTATATCAGCTTTTCTGATGGTATAAACAGGAGACAGGTCAGTAGTCACAAACTGATCTAAAATGTTTATTCCTTCTGTAGTGTATTAATCTCTGTGTGTTTTCTTTGGTTTTGGAGGAGGGGTATGAAGTATCTTTGACATGGTGCCTTAGGAATGACTTGGGTTTAACAAGCTGTCTACTGGACAATCTTATGTTTCCAAGAGAACTAAAGCTGGAGAGACCTGACCCTTCTCTCACTTCTAAATTAATGGTAAAATAAAATGCCTCAGCTATGTAGCAAAGGGAATGGGTCTGCACAGATTCTTTTTTTCTGTCAGTAAAACTCTCAAGCAGGTTTTTAAGTTGTC
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CCACATCAGCCTCCCAAATTGCTGGGATTACAGGTGTGAGCCACTGCGCCCAGCCATATCAGTGTTTCTTGAGGCAGAACTAGAAGACTTGTGCAGTAAAGTACTTACACCTGTTACATCTTTTTTTTTTCACCATACATTCATGATCTAAATAGAGAAAACTTATATCTCTTCATTCTTGTTTTATTTGGTCAGGATCGTAAGGTGTAACTCTATCCTAATGCCATCTGTTTATCCTCATGACAGAATCGTGAACCTAGAACATAATCATAGCACACTGGGTTTTATGTAAACATTCTCTTTTTTTTTTTTTTTTTGAGATGGAATCTCACTCTGTCACCCAGTCTGGTGTGCAATGGTATGATCTCGACTCACTGCAACTTCTGTCTCCCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGACCAGGCTGGTCTCCGACTCCTGACATCAGGTGATCCACCTGCCTCGGCATCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCACCTGGCCCTCAAAGAATAGGTTTGATTTAGGTCAGGCGTGGTGGCTCACGCCTGTAGTCCCAGTATTTTGGGAGGCCAAGGTGGGCGGATTATGAGATCAGGAGGTCAAGACCAGCCTGATCAATATGGTGAAACCCTGTCTCTACTAAAAATAAAAATATTAGCTATGCATGGTGCTGCATAGCTCCATGCTACTTTGGAGGCTGAGGCAGGAGAATCGCGTGAACCCAGGAGGTGGAGGTTGCAATGAGATCACGCCGCTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAGAAAAAAAAAAAAGAATGGATTTGATTTATCCCAAAGACTTGCCAGGTAGAGCTCCAGAGTAGTTGGGTGCTATCATCTCTCTGCTTATAGTTTGCCTGAACTTCTTAATAGAAAGGGAAATACATTCTTTGGTCCTGAAACTACTGTCAGTACCACTTCTTCCCTACCTATTCAGGTAATTTAAGTGTCAGAAACAAATTGCTCATCTGCCTGAGTTCTGTGTGCAGCCTAAAAATGTTCTCTCCTCTCTCATAGGTATGGTCTCTCTGGCAGTGATGTCCTGGATAATGTAGCATATGCTCGAGCGTTCAACACAGACCACCAGACCCAGCTCCTTTATCAAGCATCAGCCATGATGGTAGAATCTAGGTATGTGTTCAGTATAAGACACCAAATATGTTCTTAAGAGTCCTTCCCTGAATCTTGTAATGGCTATTTGGCCAGATTGATAGTAGTTTGAATTAGAAATGAGGAGGTTTAAGTATAATTCCTGTGTTGACACTCTTGCTTTGTAGTTTAGGTCAAGTCACTATTAAAAATGAAACCATAATCTACTTGAACTTGCTGGAAATCTTGTTAAACGGTGCCTCAGATGTTAGTACTGTGCAAATATTTTAATAAAACATCTATATACAGGCCGGGCGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACAAGGTCAGGAGATCGAGAACATCCTGGCTAACACGGTGAATCCGTCTCTACTAAAAAAATACAAAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCCGGAGGCTGAAGCAGGAGAATGGAGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCAAGAATGCCCCACTGCACTCCAGCCTGGGCGACAGAGCTAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAATCTGTATACAGGAAAAACTATGAATATGAGATTTTAGGGTGGTAAGGAAGGGACCAGAATCTGACACAGGCTAGAAATAGGCTTCAGAGAATCCTTGTTTCCTGTAGGTATGCACTGCTTATTGTAGACAGTGCCACCGCCCTTTACAGAACAGACTACTCGGGTCGAGGTGAGCTTTCAGCCAGGCAGATGCACTTGGCCAGGTTTCTGCAGATGCTTCTGCGACTCGCTGATGAGGTAAGTTGTGGGATAGGGACAGAGAATGCCTACTTTCAGTGGCTGTGAATTCCAGGAGCCTTGCTAGGAGGCTAAGACATCAGTGCCTGAGATCATCAAGCTCTTAGGAAGAAGAGAGACATTAGTTATTCGTTATTTTGTGGGGGAAAGTGGTGGCAGCATTAAGGCTTTTGGAGTGTCTATGGCCACAAAATTGACATTTATCCTTTCCCCATCAGTTTGGTGTAGCAGTGGTAATCACTAATCAGGTGGTAGCTCAAGTGGATGGAGCAGCGATGTTTGCTGCTGATCCCAAAAAACCTATTGGAGGAAATATCATCGCCCATGCATCAACAACCAGGTAAGGTGTTGATGGGATCAGTTCTTCTTTTCGGAATGTCATATTAACTGTGAAGACATGAAGATATAACATTTTCATTTAAGCCCTGTTAAAGCTACTGTTGTATAGACACTTAGGAACTCTTGCTAATCTAATTAACATGCTCTCGTTGGTATAGATGTTTTAGTTCATAAAAGAATTAAAAACCCACAAGTGTGGAAGAATGAATATGAGTAATTGATATGCCTCTCCCCTGTTATTTAAAAAATGTTTGGGCTGGGCACAGTGGCTCACACTGGTAATCCCAACACTTTGGGAGGCCAAGGTGATAGGATGGTTTGAGGCCAGGAATTCGACACTAGTAAGGGCAACAAAGTGAGGCCTCTGTCTCTACAAAAAAAAGTAGCTGGTGTGGTGGCGTGTGCCTGTAGTCTTAGCTACCCAGGAGACTGAGGCAGGAGGATCAGTTGAGCATAGGAATTCGAGGCTGTATTGAGCTATGATCACACATCACTGCACTCCAGCCTGGCAAAAGAGCAGGACACTGTCTTGAAAAAATTTTTTTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCACCCGCCACCACACCTGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACAGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCAACTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCCTAAATTTTTCTTTTTTTAATGTTTGTTTCAATATGGACAATCCACTGAGAGGGGCCAGGGCAAAAATGGATTCTGCCAGGTTGGAAATGCACTAAGGAAAACAGTACAGAAACATTCCCAGGGTCCTTCTAGGAAGAATATATGTCTAAAAAATTTTCAGCTCTGTTACAAAGTCAGGAACGGAATTGTTTAATTATAATAAATTGGTGCTTTGGTCTGTGTCTTTGGGTCAGATTGTATCTGAGGAAAGGAAGAGGGGAAACCAGAATCTGCAAAATCTACGACTCTCCCTGTCTTCCTGAAGCTGAAGCTATGTTCGCCATTAATGCAGATGGAGTGGGAGATGCCAAAGACTGAATCATTGGGTTTTTCCTCTGTTAAAAACCTTAAGTGCTGCAGCCTAATGAGAGTGCACTGCTCCCTGGGGTTCTCTACAGGCCTCTTCCTGTTGTGACTGCCAGGATAAAGCTTCCGGGAAAACAGCTATTATATCAGCTTTTCTGATGGTATAAACAGGAGACAGGTCAGTAGTCACAAACTGATCTAAAATGTTTATTCCTTCTGTAGTGTATTAATCTCTGTGTGTTTTCTTTGGTTTTGGAGGAGGGGTATGAAGTATCTTTGACATGGTGCCTTAGGAATGACTTGGGTTTAACAAGCTGTCTACTGGACAATCTTATGTTTCCAAGAGAACTAAAGCTGGAGAGACCTGACCCTTCTCTCACTTCTAAATTAATGGTAAAATAAAATGCCTCAGCTATGTAGCAAAGGGAATGGGTCTGCACAGATTCTTTTTTTCTGTCAGTAAAACTCTCAAGCAGGTTTTTAAGTTGTC
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Task1_train_20534
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This variant affects gene RAD51 (RAD51 recombinase) located on Chromosome 15. Evaluate its biological effect and specify any disease association.
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Pathogenic; RAD51-related disorder
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TGGTGTGCAATGGTATGATCTCGACTCACTGCAACTTCTGTCTCCCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGACCAGGCTGGTCTCCGACTCCTGACATCAGGTGATCCACCTGCCTCGGCATCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCACCTGGCCCTCAAAGAATAGGTTTGATTTAGGTCAGGCGTGGTGGCTCACGCCTGTAGTCCCAGTATTTTGGGAGGCCAAGGTGGGCGGATTATGAGATCAGGAGGTCAAGACCAGCCTGATCAATATGGTGAAACCCTGTCTCTACTAAAAATAAAAATATTAGCTATGCATGGTGCTGCATAGCTCCATGCTACTTTGGAGGCTGAGGCAGGAGAATCGCGTGAACCCAGGAGGTGGAGGTTGCAATGAGATCACGCCGCTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAGAAAAAAAAAAAAGAATGGATTTGATTTATCCCAAAGACTTGCCAGGTAGAGCTCCAGAGTAGTTGGGTGCTATCATCTCTCTGCTTATAGTTTGCCTGAACTTCTTAATAGAAAGGGAAATACATTCTTTGGTCCTGAAACTACTGTCAGTACCACTTCTTCCCTACCTATTCAGGTAATTTAAGTGTCAGAAACAAATTGCTCATCTGCCTGAGTTCTGTGTGCAGCCTAAAAATGTTCTCTCCTCTCTCATAGGTATGGTCTCTCTGGCAGTGATGTCCTGGATAATGTAGCATATGCTCGAGCGTTCAACACAGACCACCAGACCCAGCTCCTTTATCAAGCATCAGCCATGATGGTAGAATCTAGGTATGTGTTCAGTATAAGACACCAAATATGTTCTTAAGAGTCCTTCCCTGAATCTTGTAATGGCTATTTGGCCAGATTGATAGTAGTTTGAATTAGAAATGAGGAGGTTTAAGTATAATTCCTGTGTTGACACTCTTGCTTTGTAGTTTAGGTCAAGTCACTATTAAAAATGAAACCATAATCTACTTGAACTTGCTGGAAATCTTGTTAAACGGTGCCTCAGATGTTAGTACTGTGCAAATATTTTAATAAAACATCTATATACAGGCCGGGCGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACAAGGTCAGGAGATCGAGAACATCCTGGCTAACACGGTGAATCCGTCTCTACTAAAAAAATACAAAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCCGGAGGCTGAAGCAGGAGAATGGAGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCAAGAATGCCCCACTGCACTCCAGCCTGGGCGACAGAGCTAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAATCTGTATACAGGAAAAACTATGAATATGAGATTTTAGGGTGGTAAGGAAGGGACCAGAATCTGACACAGGCTAGAAATAGGCTTCAGAGAATCCTTGTTTCCTGTAGGTATGCACTGCTTATTGTAGACAGTGCCACCGCCCTTTACAGAACAGACTACTCGGGTCGAGGTGAGCTTTCAGCCAGGCAGATGCACTTGGCCAGGTTTCTGCGGATGCTTCTGCGACTCGCTGATGAGGTAAGTTGTGGGATAGGGACAGAGAATGCCTACTTTCAGTGGCTGTGAATTCCAGGAGCCTTGCTAGGAGGCTAAGACATCAGTGCCTGAGATCATCAAGCTCTTAGGAAGAAGAGAGACATTAGTTATTCGTTATTTTGTGGGGGAAAGTGGTGGCAGCATTAAGGCTTTTGGAGTGTCTATGGCCACAAAATTGACATTTATCCTTTCCCCATCAGTTTGGTGTAGCAGTGGTAATCACTAATCAGGTGGTAGCTCAAGTGGATGGAGCAGCGATGTTTGCTGCTGATCCCAAAAAACCTATTGGAGGAAATATCATCGCCCATGCATCAACAACCAGGTAAGGTGTTGATGGGATCAGTTCTTCTTTTCGGAATGTCATATTAACTGTGAAGACATGAAGATATAACATTTTCATTTAAGCCCTGTTAAAGCTACTGTTGTATAGACACTTAGGAACTCTTGCTAATCTAATTAACATGCTCTCGTTGGTATAGATGTTTTAGTTCATAAAAGAATTAAAAACCCACAAGTGTGGAAGAATGAATATGAGTAATTGATATGCCTCTCCCCTGTTATTTAAAAAATGTTTGGGCTGGGCACAGTGGCTCACACTGGTAATCCCAACACTTTGGGAGGCCAAGGTGATAGGATGGTTTGAGGCCAGGAATTCGACACTAGTAAGGGCAACAAAGTGAGGCCTCTGTCTCTACAAAAAAAAGTAGCTGGTGTGGTGGCGTGTGCCTGTAGTCTTAGCTACCCAGGAGACTGAGGCAGGAGGATCAGTTGAGCATAGGAATTCGAGGCTGTATTGAGCTATGATCACACATCACTGCACTCCAGCCTGGCAAAAGAGCAGGACACTGTCTTGAAAAAATTTTTTTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCACCCGCCACCACACCTGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACAGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCAACTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCCTAAATTTTTCTTTTTTTAATGTTTGTTTCAATATGGACAATCCACTGAGAGGGGCCAGGGCAAAAATGGATTCTGCCAGGTTGGAAATGCACTAAGGAAAACAGTACAGAAACATTCCCAGGGTCCTTCTAGGAAGAATATATGTCTAAAAAATTTTCAGCTCTGTTACAAAGTCAGGAACGGAATTGTTTAATTATAATAAATTGGTGCTTTGGTCTGTGTCTTTGGGTCAGATTGTATCTGAGGAAAGGAAGAGGGGAAACCAGAATCTGCAAAATCTACGACTCTCCCTGTCTTCCTGAAGCTGAAGCTATGTTCGCCATTAATGCAGATGGAGTGGGAGATGCCAAAGACTGAATCATTGGGTTTTTCCTCTGTTAAAAACCTTAAGTGCTGCAGCCTAATGAGAGTGCACTGCTCCCTGGGGTTCTCTACAGGCCTCTTCCTGTTGTGACTGCCAGGATAAAGCTTCCGGGAAAACAGCTATTATATCAGCTTTTCTGATGGTATAAACAGGAGACAGGTCAGTAGTCACAAACTGATCTAAAATGTTTATTCCTTCTGTAGTGTATTAATCTCTGTGTGTTTTCTTTGGTTTTGGAGGAGGGGTATGAAGTATCTTTGACATGGTGCCTTAGGAATGACTTGGGTTTAACAAGCTGTCTACTGGACAATCTTATGTTTCCAAGAGAACTAAAGCTGGAGAGACCTGACCCTTCTCTCACTTCTAAATTAATGGTAAAATAAAATGCCTCAGCTATGTAGCAAAGGGAATGGGTCTGCACAGATTCTTTTTTTCTGTCAGTAAAACTCTCAAGCAGGTTTTTAAGTTGTCTGTCTGAATGATCTTGTGTAAGGTTTTGGTTATGGAGTCTTGTGCCAAACCTACTAGGCCATTAGCCCTTCACCATCTACCTGCTTGGTCTTTCATTGCTAAGACTAACTCAAGATAATCCTAGAGTCTTAAAGCATTTCAGGCCAGTGTGGTGTCTTGCGCCTGTACTCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCGCTTGAGCCCAGGAGTTTTAAGTCCAGCTTGGCCAAGGTGGTGAAATCCCATCTCTACAAAAAATGCAGAACTTAATCTGGACACACTGTTACACGTGCCTGTAGTCCCAGCTACTCGATAGCCTGAGGTGGGAGAATCACTTA
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TGGTGTGCAATGGTATGATCTCGACTCACTGCAACTTCTGTCTCCCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGACCAGGCTGGTCTCCGACTCCTGACATCAGGTGATCCACCTGCCTCGGCATCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCACCTGGCCCTCAAAGAATAGGTTTGATTTAGGTCAGGCGTGGTGGCTCACGCCTGTAGTCCCAGTATTTTGGGAGGCCAAGGTGGGCGGATTATGAGATCAGGAGGTCAAGACCAGCCTGATCAATATGGTGAAACCCTGTCTCTACTAAAAATAAAAATATTAGCTATGCATGGTGCTGCATAGCTCCATGCTACTTTGGAGGCTGAGGCAGGAGAATCGCGTGAACCCAGGAGGTGGAGGTTGCAATGAGATCACGCCGCTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAGAAAAAAAAAAAAGAATGGATTTGATTTATCCCAAAGACTTGCCAGGTAGAGCTCCAGAGTAGTTGGGTGCTATCATCTCTCTGCTTATAGTTTGCCTGAACTTCTTAATAGAAAGGGAAATACATTCTTTGGTCCTGAAACTACTGTCAGTACCACTTCTTCCCTACCTATTCAGGTAATTTAAGTGTCAGAAACAAATTGCTCATCTGCCTGAGTTCTGTGTGCAGCCTAAAAATGTTCTCTCCTCTCTCATAGGTATGGTCTCTCTGGCAGTGATGTCCTGGATAATGTAGCATATGCTCGAGCGTTCAACACAGACCACCAGACCCAGCTCCTTTATCAAGCATCAGCCATGATGGTAGAATCTAGGTATGTGTTCAGTATAAGACACCAAATATGTTCTTAAGAGTCCTTCCCTGAATCTTGTAATGGCTATTTGGCCAGATTGATAGTAGTTTGAATTAGAAATGAGGAGGTTTAAGTATAATTCCTGTGTTGACACTCTTGCTTTGTAGTTTAGGTCAAGTCACTATTAAAAATGAAACCATAATCTACTTGAACTTGCTGGAAATCTTGTTAAACGGTGCCTCAGATGTTAGTACTGTGCAAATATTTTAATAAAACATCTATATACAGGCCGGGCGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACAAGGTCAGGAGATCGAGAACATCCTGGCTAACACGGTGAATCCGTCTCTACTAAAAAAATACAAAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCCGGAGGCTGAAGCAGGAGAATGGAGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCAAGAATGCCCCACTGCACTCCAGCCTGGGCGACAGAGCTAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAATCTGTATACAGGAAAAACTATGAATATGAGATTTTAGGGTGGTAAGGAAGGGACCAGAATCTGACACAGGCTAGAAATAGGCTTCAGAGAATCCTTGTTTCCTGTAGGTATGCACTGCTTATTGTAGACAGTGCCACCGCCCTTTACAGAACAGACTACTCGGGTCGAGGTGAGCTTTCAGCCAGGCAGATGCACTTGGCCAGGTTTCTGCGGATGCTTCTGCGACTCGCTGATGAGGTAAGTTGTGGGATAGGGACAGAGAATGCCTACTTTCAGTGGCTGTGAATTCCAGGAGCCTTGCTAGGAGGCTAAGACATCAGTGCCTGAGATCATCAAGCTCTTAGGAAGAAGAGAGACATTAGTTATTCGTTATTTTGTGGGGGAAAGTGGTGGCAGCATTAAGGCTTTTGGAGTGTCTATGGCCACAAAATTGACATTTATCCTTTCCCCATCAGTTTGGTGTAGCAGTGGTAATCACTAATCAGGTGGTAGCTCAAGTGGATGGAGCAGCGATGTTTGCTGCTGATCCCAAAAAACCTATTGGAGGAAATATCATCACCCATGCATCAACAACCAGGTAAGGTGTTGATGGGATCAGTTCTTCTTTTCGGAATGTCATATTAACTGTGAAGACATGAAGATATAACATTTTCATTTAAGCCCTGTTAAAGCTACTGTTGTATAGACACTTAGGAACTCTTGCTAATCTAATTAACATGCTCTCGTTGGTATAGATGTTTTAGTTCATAAAAGAATTAAAAACCCACAAGTGTGGAAGAATGAATATGAGTAATTGATATGCCTCTCCCCTGTTATTTAAAAAATGTTTGGGCTGGGCACAGTGGCTCACACTGGTAATCCCAACACTTTGGGAGGCCAAGGTGATAGGATGGTTTGAGGCCAGGAATTCGACACTAGTAAGGGCAACAAAGTGAGGCCTCTGTCTCTACAAAAAAAAGTAGCTGGTGTGGTGGCGTGTGCCTGTAGTCTTAGCTACCCAGGAGACTGAGGCAGGAGGATCAGTTGAGCATAGGAATTCGAGGCTGTATTGAGCTATGATCACACATCACTGCACTCCAGCCTGGCAAAAGAGCAGGACACTGTCTTGAAAAAATTTTTTTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCACCCGCCACCACACCTGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACAGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCAACTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCCTAAATTTTTCTTTTTTTAATGTTTGTTTCAATATGGACAATCCACTGAGAGGGGCCAGGGCAAAAATGGATTCTGCCAGGTTGGAAATGCACTAAGGAAAACAGTACAGAAACATTCCCAGGGTCCTTCTAGGAAGAATATATGTCTAAAAAATTTTCAGCTCTGTTACAAAGTCAGGAACGGAATTGTTTAATTATAATAAATTGGTGCTTTGGTCTGTGTCTTTGGGTCAGATTGTATCTGAGGAAAGGAAGAGGGGAAACCAGAATCTGCAAAATCTACGACTCTCCCTGTCTTCCTGAAGCTGAAGCTATGTTCGCCATTAATGCAGATGGAGTGGGAGATGCCAAAGACTGAATCATTGGGTTTTTCCTCTGTTAAAAACCTTAAGTGCTGCAGCCTAATGAGAGTGCACTGCTCCCTGGGGTTCTCTACAGGCCTCTTCCTGTTGTGACTGCCAGGATAAAGCTTCCGGGAAAACAGCTATTATATCAGCTTTTCTGATGGTATAAACAGGAGACAGGTCAGTAGTCACAAACTGATCTAAAATGTTTATTCCTTCTGTAGTGTATTAATCTCTGTGTGTTTTCTTTGGTTTTGGAGGAGGGGTATGAAGTATCTTTGACATGGTGCCTTAGGAATGACTTGGGTTTAACAAGCTGTCTACTGGACAATCTTATGTTTCCAAGAGAACTAAAGCTGGAGAGACCTGACCCTTCTCTCACTTCTAAATTAATGGTAAAATAAAATGCCTCAGCTATGTAGCAAAGGGAATGGGTCTGCACAGATTCTTTTTTTCTGTCAGTAAAACTCTCAAGCAGGTTTTTAAGTTGTCTGTCTGAATGATCTTGTGTAAGGTTTTGGTTATGGAGTCTTGTGCCAAACCTACTAGGCCATTAGCCCTTCACCATCTACCTGCTTGGTCTTTCATTGCTAAGACTAACTCAAGATAATCCTAGAGTCTTAAAGCATTTCAGGCCAGTGTGGTGTCTTGCGCCTGTACTCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCGCTTGAGCCCAGGAGTTTTAAGTCCAGCTTGGCCAAGGTGGTGAAATCCCATCTCTACAAAAAATGCAGAACTTAATCTGGACACACTGTTACACGTGCCTGTAGTCCCAGCTACTCGATAGCCTGAGGTGGGAGAATCACTTA
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Task1_train_20535
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Assess the clinical impact of this variant on gene RAD51 (RAD51 recombinase), found on Chromosome 15. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Inborn genetic diseases
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TGGTGTGCAATGGTATGATCTCGACTCACTGCAACTTCTGTCTCCCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGACCAGGCTGGTCTCCGACTCCTGACATCAGGTGATCCACCTGCCTCGGCATCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCACCTGGCCCTCAAAGAATAGGTTTGATTTAGGTCAGGCGTGGTGGCTCACGCCTGTAGTCCCAGTATTTTGGGAGGCCAAGGTGGGCGGATTATGAGATCAGGAGGTCAAGACCAGCCTGATCAATATGGTGAAACCCTGTCTCTACTAAAAATAAAAATATTAGCTATGCATGGTGCTGCATAGCTCCATGCTACTTTGGAGGCTGAGGCAGGAGAATCGCGTGAACCCAGGAGGTGGAGGTTGCAATGAGATCACGCCGCTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAGAAAAAAAAAAAAGAATGGATTTGATTTATCCCAAAGACTTGCCAGGTAGAGCTCCAGAGTAGTTGGGTGCTATCATCTCTCTGCTTATAGTTTGCCTGAACTTCTTAATAGAAAGGGAAATACATTCTTTGGTCCTGAAACTACTGTCAGTACCACTTCTTCCCTACCTATTCAGGTAATTTAAGTGTCAGAAACAAATTGCTCATCTGCCTGAGTTCTGTGTGCAGCCTAAAAATGTTCTCTCCTCTCTCATAGGTATGGTCTCTCTGGCAGTGATGTCCTGGATAATGTAGCATATGCTCGAGCGTTCAACACAGACCACCAGACCCAGCTCCTTTATCAAGCATCAGCCATGATGGTAGAATCTAGGTATGTGTTCAGTATAAGACACCAAATATGTTCTTAAGAGTCCTTCCCTGAATCTTGTAATGGCTATTTGGCCAGATTGATAGTAGTTTGAATTAGAAATGAGGAGGTTTAAGTATAATTCCTGTGTTGACACTCTTGCTTTGTAGTTTAGGTCAAGTCACTATTAAAAATGAAACCATAATCTACTTGAACTTGCTGGAAATCTTGTTAAACGGTGCCTCAGATGTTAGTACTGTGCAAATATTTTAATAAAACATCTATATACAGGCCGGGCGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACAAGGTCAGGAGATCGAGAACATCCTGGCTAACACGGTGAATCCGTCTCTACTAAAAAAATACAAAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCCGGAGGCTGAAGCAGGAGAATGGAGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCAAGAATGCCCCACTGCACTCCAGCCTGGGCGACAGAGCTAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAATCTGTATACAGGAAAAACTATGAATATGAGATTTTAGGGTGGTAAGGAAGGGACCAGAATCTGACACAGGCTAGAAATAGGCTTCAGAGAATCCTTGTTTCCTGTAGGTATGCACTGCTTATTGTAGACAGTGCCACCGCCCTTTACAGAACAGACTACTCGGGTCGAGGTGAGCTTTCAGCCAGGCAGATGCACTTGGCCAGGTTTCTGCGGATGCTTCTGCGACTCGCTGATGAGGTAAGTTGTGGGATAGGGACAGAGAATGCCTACTTTCAGTGGCTGTGAATTCCAGGAGCCTTGCTAGGAGGCTAAGACATCAGTGCCTGAGATCATCAAGCTCTTAGGAAGAAGAGAGACATTAGTTATTCGTTATTTTGTGGGGGAAAGTGGTGGCAGCATTAAGGCTTTTGGAGTGTCTATGGCCACAAAATTGACATTTATCCTTTCCCCATCAGTTTGGTGTAGCAGTGGTAATCACTAATCAGGTGGTAGCTCAAGTGGATGGAGCAGCGATGTTTGCTGCTGATCCCAAAAAACCTATTGGAGGAAATATCATCGCCCATGCATCAACAACCAGGTAAGGTGTTGATGGGATCAGTTCTTCTTTTCGGAATGTCATATTAACTGTGAAGACATGAAGATATAACATTTTCATTTAAGCCCTGTTAAAGCTACTGTTGTATAGACACTTAGGAACTCTTGCTAATCTAATTAACATGCTCTCGTTGGTATAGATGTTTTAGTTCATAAAAGAATTAAAAACCCACAAGTGTGGAAGAATGAATATGAGTAATTGATATGCCTCTCCCCTGTTATTTAAAAAATGTTTGGGCTGGGCACAGTGGCTCACACTGGTAATCCCAACACTTTGGGAGGCCAAGGTGATAGGATGGTTTGAGGCCAGGAATTCGACACTAGTAAGGGCAACAAAGTGAGGCCTCTGTCTCTACAAAAAAAAGTAGCTGGTGTGGTGGCGTGTGCCTGTAGTCTTAGCTACCCAGGAGACTGAGGCAGGAGGATCAGTTGAGCATAGGAATTCGAGGCTGTATTGAGCTATGATCACACATCACTGCACTCCAGCCTGGCAAAAGAGCAGGACACTGTCTTGAAAAAATTTTTTTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCACCCGCCACCACACCTGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACAGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCAACTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCCTAAATTTTTCTTTTTTTAATGTTTGTTTCAATATGGACAATCCACTGAGAGGGGCCAGGGCAAAAATGGATTCTGCCAGGTTGGAAATGCACTAAGGAAAACAGTACAGAAACATTCCCAGGGTCCTTCTAGGAAGAATATATGTCTAAAAAATTTTCAGCTCTGTTACAAAGTCAGGAACGGAATTGTTTAATTATAATAAATTGGTGCTTTGGTCTGTGTCTTTGGGTCAGATTGTATCTGAGGAAAGGAAGAGGGGAAACCAGAATCTGCAAAATCTACGACTCTCCCTGTCTTCCTGAAGCTGAAGCTATGTTCGCCATTAATGCAGATGGAGTGGGAGATGCCAAAGACTGAATCATTGGGTTTTTCCTCTGTTAAAAACCTTAAGTGCTGCAGCCTAATGAGAGTGCACTGCTCCCTGGGGTTCTCTACAGGCCTCTTCCTGTTGTGACTGCCAGGATAAAGCTTCCGGGAAAACAGCTATTATATCAGCTTTTCTGATGGTATAAACAGGAGACAGGTCAGTAGTCACAAACTGATCTAAAATGTTTATTCCTTCTGTAGTGTATTAATCTCTGTGTGTTTTCTTTGGTTTTGGAGGAGGGGTATGAAGTATCTTTGACATGGTGCCTTAGGAATGACTTGGGTTTAACAAGCTGTCTACTGGACAATCTTATGTTTCCAAGAGAACTAAAGCTGGAGAGACCTGACCCTTCTCTCACTTCTAAATTAATGGTAAAATAAAATGCCTCAGCTATGTAGCAAAGGGAATGGGTCTGCACAGATTCTTTTTTTCTGTCAGTAAAACTCTCAAGCAGGTTTTTAAGTTGTCTGTCTGAATGATCTTGTGTAAGGTTTTGGTTATGGAGTCTTGTGCCAAACCTACTAGGCCATTAGCCCTTCACCATCTACCTGCTTGGTCTTTCATTGCTAAGACTAACTCAAGATAATCCTAGAGTCTTAAAGCATTTCAGGCCAGTGTGGTGTCTTGCGCCTGTACTCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCGCTTGAGCCCAGGAGTTTTAAGTCCAGCTTGGCCAAGGTGGTGAAATCCCATCTCTACAAAAAATGCAGAACTTAATCTGGACACACTGTTACACGTGCCTGTAGTCCCAGCTACTCGATAGCCTGAGGTGGGAGAATCACTTA
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TGGTGTGCAATGGTATGATCTCGACTCACTGCAACTTCTGTCTCCCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGACCAGGCTGGTCTCCGACTCCTGACATCAGGTGATCCACCTGCCTCGGCATCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCACCTGGCCCTCAAAGAATAGGTTTGATTTAGGTCAGGCGTGGTGGCTCACGCCTGTAGTCCCAGTATTTTGGGAGGCCAAGGTGGGCGGATTATGAGATCAGGAGGTCAAGACCAGCCTGATCAATATGGTGAAACCCTGTCTCTACTAAAAATAAAAATATTAGCTATGCATGGTGCTGCATAGCTCCATGCTACTTTGGAGGCTGAGGCAGGAGAATCGCGTGAACCCAGGAGGTGGAGGTTGCAATGAGATCACGCCGCTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAGAAAAAAAAAAAAGAATGGATTTGATTTATCCCAAAGACTTGCCAGGTAGAGCTCCAGAGTAGTTGGGTGCTATCATCTCTCTGCTTATAGTTTGCCTGAACTTCTTAATAGAAAGGGAAATACATTCTTTGGTCCTGAAACTACTGTCAGTACCACTTCTTCCCTACCTATTCAGGTAATTTAAGTGTCAGAAACAAATTGCTCATCTGCCTGAGTTCTGTGTGCAGCCTAAAAATGTTCTCTCCTCTCTCATAGGTATGGTCTCTCTGGCAGTGATGTCCTGGATAATGTAGCATATGCTCGAGCGTTCAACACAGACCACCAGACCCAGCTCCTTTATCAAGCATCAGCCATGATGGTAGAATCTAGGTATGTGTTCAGTATAAGACACCAAATATGTTCTTAAGAGTCCTTCCCTGAATCTTGTAATGGCTATTTGGCCAGATTGATAGTAGTTTGAATTAGAAATGAGGAGGTTTAAGTATAATTCCTGTGTTGACACTCTTGCTTTGTAGTTTAGGTCAAGTCACTATTAAAAATGAAACCATAATCTACTTGAACTTGCTGGAAATCTTGTTAAACGGTGCCTCAGATGTTAGTACTGTGCAAATATTTTAATAAAACATCTATATACAGGCCGGGCGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACAAGGTCAGGAGATCGAGAACATCCTGGCTAACACGGTGAATCCGTCTCTACTAAAAAAATACAAAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCCGGAGGCTGAAGCAGGAGAATGGAGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCAAGAATGCCCCACTGCACTCCAGCCTGGGCGACAGAGCTAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAATCTGTATACAGGAAAAACTATGAATATGAGATTTTAGGGTGGTAAGGAAGGGACCAGAATCTGACACAGGCTAGAAATAGGCTTCAGAGAATCCTTGTTTCCTGTAGGTATGCACTGCTTATTGTAGACAGTGCCACCGCCCTTTACAGAACAGACTACTCGGGTCGAGGTGAGCTTTCAGCCAGGCAGATGCACTTGGCCAGGTTTCTGCGGATGCTTCTGCGACTCGCTGATGAGGTAAGTTGTGGGATAGGGACAGAGAATGCCTACTTTCAGTGGCTGTGAATTCCAGGAGCCTTGCTAGGAGGCTAAGACATCAGTGCCTGAGATCATCAAGCTCTTAGGAAGAAGAGAGACATTAGTTATTCGTTATTTTGTGGGGGAAAGTGGTGGCAGCATTAAGGCTTTTGGAGTGTCTATGGCCACAAAATTGACATTTATCCTTTCCCCATCAGTTTGGTGTAGCAGTGGTAATCACTAATCAGGTGGTAGCTCAAGTGGATGGAGCAGCGATGTTTGCTGCTGATCCCAAAAAACCTATTGGAGGAAATATCATCACCCATGCATCAACAACCAGGTAAGGTGTTGATGGGATCAGTTCTTCTTTTCGGAATGTCATATTAACTGTGAAGACATGAAGATATAACATTTTCATTTAAGCCCTGTTAAAGCTACTGTTGTATAGACACTTAGGAACTCTTGCTAATCTAATTAACATGCTCTCGTTGGTATAGATGTTTTAGTTCATAAAAGAATTAAAAACCCACAAGTGTGGAAGAATGAATATGAGTAATTGATATGCCTCTCCCCTGTTATTTAAAAAATGTTTGGGCTGGGCACAGTGGCTCACACTGGTAATCCCAACACTTTGGGAGGCCAAGGTGATAGGATGGTTTGAGGCCAGGAATTCGACACTAGTAAGGGCAACAAAGTGAGGCCTCTGTCTCTACAAAAAAAAGTAGCTGGTGTGGTGGCGTGTGCCTGTAGTCTTAGCTACCCAGGAGACTGAGGCAGGAGGATCAGTTGAGCATAGGAATTCGAGGCTGTATTGAGCTATGATCACACATCACTGCACTCCAGCCTGGCAAAAGAGCAGGACACTGTCTTGAAAAAATTTTTTTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCACCCGCCACCACACCTGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACAGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCAACTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCCTAAATTTTTCTTTTTTTAATGTTTGTTTCAATATGGACAATCCACTGAGAGGGGCCAGGGCAAAAATGGATTCTGCCAGGTTGGAAATGCACTAAGGAAAACAGTACAGAAACATTCCCAGGGTCCTTCTAGGAAGAATATATGTCTAAAAAATTTTCAGCTCTGTTACAAAGTCAGGAACGGAATTGTTTAATTATAATAAATTGGTGCTTTGGTCTGTGTCTTTGGGTCAGATTGTATCTGAGGAAAGGAAGAGGGGAAACCAGAATCTGCAAAATCTACGACTCTCCCTGTCTTCCTGAAGCTGAAGCTATGTTCGCCATTAATGCAGATGGAGTGGGAGATGCCAAAGACTGAATCATTGGGTTTTTCCTCTGTTAAAAACCTTAAGTGCTGCAGCCTAATGAGAGTGCACTGCTCCCTGGGGTTCTCTACAGGCCTCTTCCTGTTGTGACTGCCAGGATAAAGCTTCCGGGAAAACAGCTATTATATCAGCTTTTCTGATGGTATAAACAGGAGACAGGTCAGTAGTCACAAACTGATCTAAAATGTTTATTCCTTCTGTAGTGTATTAATCTCTGTGTGTTTTCTTTGGTTTTGGAGGAGGGGTATGAAGTATCTTTGACATGGTGCCTTAGGAATGACTTGGGTTTAACAAGCTGTCTACTGGACAATCTTATGTTTCCAAGAGAACTAAAGCTGGAGAGACCTGACCCTTCTCTCACTTCTAAATTAATGGTAAAATAAAATGCCTCAGCTATGTAGCAAAGGGAATGGGTCTGCACAGATTCTTTTTTTCTGTCAGTAAAACTCTCAAGCAGGTTTTTAAGTTGTCTGTCTGAATGATCTTGTGTAAGGTTTTGGTTATGGAGTCTTGTGCCAAACCTACTAGGCCATTAGCCCTTCACCATCTACCTGCTTGGTCTTTCATTGCTAAGACTAACTCAAGATAATCCTAGAGTCTTAAAGCATTTCAGGCCAGTGTGGTGTCTTGCGCCTGTACTCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCGCTTGAGCCCAGGAGTTTTAAGTCCAGCTTGGCCAAGGTGGTGAAATCCCATCTCTACAAAAAATGCAGAACTTAATCTGGACACACTGTTACACGTGCCTGTAGTCCCAGCTACTCGATAGCCTGAGGTGGGAGAATCACTTA
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Task1_train_20536
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Given this context: Chromosome 15, gene ZFYVE19 (zinc finger FYVE-type containing 19) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Cholestasis, progressive familial intrahepatic, 9
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GTTGCAGTAAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCCACAGAGCGAGACTCCGTCTCAAAAACAATAATAAAAAATAATAATAATAAAGAATTTAAAAAATAATAATTTGTAAACATAGAGCACTTAGAATACTATCCAGAAAAAAAAAATACTGTCTAGGACATAGTAAGCATTATACAGATGTTAGGAATTATTAATCCTAAAATATTGAAACACGAGAGAGGTGGAGCAGATGCTTTTGATGCTTCATAGACATCCCATGGCCATTTCTGATTTCAGCTGCGGCTGCAGGGGACAGATTTGTGCAGGTTGACAGCATTTCTCAAGGGCCCTCTGGGTCTCTCTGATTTTCTGCCCCAGAGCTTCCTCTTCTCAAAAGCTCACTCACCCCATGAGCAGGGCAGCCCAGAAGTACTGGGACATTAGTGGGCACTATTTTTTTTTCCTTTTTTTTTTTTTTTTTTGAGACAGTCTCGCTCTGTCGCCCAGACTGGAGTGCAGTGGTGCAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCCAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGTGTGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGAAGGGGTTTCAGCATATTGGTCAGGCTGGTCTCGAACTTCTGACCACATGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCGGCCTAGTAGACACTAATTTTCTTTCTTTCTTTCTTTTTTTGAGAAAGAGTCTTGCTCTGTCGCCCAGGATGGAGTGCAGTGGCGCGATCTCGGCTCAGTTGGGCACTAATTTTCATTTGATGAACGCCTCTCCTTCGTATATTGTTAAAACTACCACCATGATCCAGGGGGAGATAAAAGAAATCCTAAATCCAGCTTGATCAGTGTTTCACTCCCTGGCATCTTTATCACCACCTAAGGTAGCATGGACCTCTATACCATCTGCCTTAACCTTCTGATCCTCCTGCTTTTAGCCCACTAACTAGCACATGCTGAGAAGGGCATCAGCTACTTGAAAAGAGTCAATGGGCTTGAGTGGAAAAGAAAATAGAGACAGCAGGGTCATCGGTCACATTGGCAAGGGGGCATGAAAAGGGAGTGGAGAGGCTTTGAGATCTTACTTTTCTTTCGTTCTAGGCTCTTAGTGGAAGAATTAAATCAGCCTGCAGAAGAGACTGAAATGAGGCACCTCTTGTCACAGTCAAGGCAGAAGCGGAAACGGAGGCCGAGACTGCGCAGGCGCAGAGGAGGCTAGCGTTCCTTGCTGCCTCGCCCCGCGGCCTCTAGGAGACAGGGGCCACGGGGAGAGCACAGCCACCCGGCGCGAAGAGCCCTCTGTACCCCGCTTCCTCTTGAGGCCCTCGGACCGTCCAGGAAATGTCTGGGAGCCCGCCTGCGGAGGGCATAGCGCCGACCCTCGCTCCCCGCCCAGGACCCGAATGAACCTGGAGAGCGGATGCCAGCAGTGGCCGAGGCGCTAGGACAGGAAGGACCGCCAGACCTCTCAAGATCAGCCTTCCTCGCCACCGTTCTCACCTCTTTGTCCGCTGCCTTCTCCTCAATGCCTAGCAGCGCGTACAGGTCCATCTGTAAGAGCTCCTTGGTCACTGCCATGGTTCCGGCCTGACGGATTCGTACTACAACTCCCAAGAGTCTAAGCGCGCGTGAGGACTGCAGGCTCCGAGCGGCGCCTAGCCCTCTGGGAATTGTGTTCTGGGTCAGGCTTGACTGACTCTGAGGGAGGCCGGCAGTCGTGAATGAACTACGACTCCCAGCAGCCCCCGTTGCCGCCGCTGCCGTACGCTGGCTGCAGGAGAGCGTCCGGATTCCCTGCTCTAGGTCGCGGCGGGACAGTGCCAGTGGGCGTGTGGGGCGGGGCAGGGCAGGGAAGGGAAGGGCGGAGCTGGGGTGAGGGTCCAAGGGGCCCAGGACTTGGCCGGCGTGATCTCAGCTCTGCAGACCCTGCGGTGCTGGGAGCCACCATGGAGAGTAGGTGCTACGGCTGCGCTGTCAAGTTCACCCTCTTCAAGAAGGAGGCGAGTCTTCCCTCCCCGAGGGCTGCAGGGCCAGGGAGGAGAGGAGGGAAAAGCGCGGGACTTAACGTCCAAAGACTTGGTCTTACGGCTCCTTTCCAGCTGTGTGGTTTTGATGAAGTCATTGATCCTCAGTTTCCATTTCTGTAAAATGGGGCTAACATTCTCTCGCTTTCAGGGTTTATGTGAGGGTCCACTGAAGTGCTTTAGGTGAGAGTTCCCTATAAACTGTAAAGCGCGCTGCCGTCGTTTTTGCAAAGCTACTCTTTTCTGTCGGCCCAGTGTAGCATCTGGCGGTTTTCTTCTCTCCACCCTGCTCCTCCGAAGCGCGGTGTCCATCACACCAAGCCCGTTACTCCCTCTGCTCTGAAATCTTCCCCATCCCGCAGCCTGCCCTTCTCCAGGTCGCTGGAGTTAGATTACCACACTTCCTCCTGCTTCCGGGGCACCATGGTGAAGGCTGACTGTCCTGTCCCTATCACAGACCTGCCAGATTCCTCTGGTAAACTGCAGGTTCCCTCTGCCTCAGTTGTGGCCAGGGATTCTGACCAGGAGATGATGGGAACTAGATGGAGTAAATTAGTGTCACGCAGGAAGGCAGGACCGTGCAGCATTCACCAACCTGGATTTTGGAGTCAGCGTTCAAATCTGAGCTCTGCTGTCTTATTGAGGCGGTGACCTTGGTTTGGATAAGTTATGTAACCTCTCTGGCCCTCTCAAAATAAGGATAATCACGGTTGGCATCAAGATTAAGTAAAATAATGTGTGTAAATTGTAAGGAATAAATCACATGATGAATGTTAAGTACTGGGTTTAGTGCCTGGCACATAGTAAGTGCTTAATAAATGGAGGCTATTGTTAGCCCATCCTGAGCCAAGCCTCCCTCCATCTCTGCAAGAGCAGAGGAGGCATCGGCTCTGCCCTGTCTCTCTGATTCTCCTTTGTGGAAGAGTCAGTGGCCTGAAATACTGGGCTTTATCTATCTGTCTTCTACATCCCTGGGTCAGGGAATTGAAGACAGGGTAGAAAGCATGGGAATTTTGTATAAACCTTCATTTGGCTTGAATAAGGTACTGGAAACCGAGGAATTGCTTTACTCACCATCCCTAGGCCTTAGGGGCCCCACTCCTCTTCTTCCTCCCAGCAGCTGGTCATAACTTCAGTGACTTCTCTCTGTGTGTGCTTGGAGAGTCCCTGGGAGCAGCCTGCAGGGGCGGGTGAGAGGGGGATCTCCCGCTTCATGTTTCTTGTAGTACGGCTGTAAGAATTGTGGCAGGGCCTTCTGTTCAGGCTGCCTAAGCTTCAGTGCAGCAGTGCCTCGGACTGGGAACACCCAACAGAAAGTCTGCAAGCAATGCCATGAGGTCCTGACCAGGTAAGAGGCAGGCATGGGTGAAAGTTCAGCCAAGTATGGCAGTGGGCATCTGGCCAGCCCTCACAGCTTTGTACTCTGTCGCGAGAGTCAGCCGAGGAAGTGTTTGGAGTGGGGGGCACTGCCTGGTGGGATGGCAGGATTTATAACACTAGATTTCTTCTCTGTAGAGGGTCTTCTGCCAATGCCTCCAAGTGGTCACCACCTCAGAACTATAAGAAGTAAGTGCTGAAGAGAAAAAGACAAAGAGCATTGGGGAAAGGATAAGGGAGCCATAGGGAAAGACCCTGCCCCCATCTTCTAGATAAAATGAGCACAGAATCAGGAGAATTCTCTCCTCTCTGGCTCCTGACTGCCCTCTTGGGCTGGTAAAGCAGCTCTTCAGCCCTCTCTCCAGGACAGGCACTTGGTAGAGCTTGTCCTTTCAGCTGGACCGTCTGGCTGGTCAGCCAGGTTGGGCTGCAGGGTGACATGAGTGAGGGGCACAGCAGATTGCCCATTGGAGGCCTCCCTAAGTGCCCAGAAATGATTTGATTTGAATGGGAAACAGTGAGTGGGTGCCTTCACTCTTCCCCTCTGCCTTCTTCAAGAGCCTCTATCTCATATCCTGCCAGGCGTGTGGCAG
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GTTGCAGTAAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCCACAGAGCGAGACTCCGTCTCAAAAACAATAATAAAAAATAATAATAATAAAGAATTTAAAAAATAATAATTTGTAAACATAGAGCACTTAGAATACTATCCAGAAAAAAAAAATACTGTCTAGGACATAGTAAGCATTATACAGATGTTAGGAATTATTAATCCTAAAATATTGAAACACGAGAGAGGTGGAGCAGATGCTTTTGATGCTTCATAGACATCCCATGGCCATTTCTGATTTCAGCTGCGGCTGCAGGGGACAGATTTGTGCAGGTTGACAGCATTTCTCAAGGGCCCTCTGGGTCTCTCTGATTTTCTGCCCCAGAGCTTCCTCTTCTCAAAAGCTCACTCACCCCATGAGCAGGGCAGCCCAGAAGTACTGGGACATTAGTGGGCACTATTTTTTTTTCCTTTTTTTTTTTTTTTTTTGAGACAGTCTCGCTCTGTCGCCCAGACTGGAGTGCAGTGGTGCAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCCAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGTGTGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGAAGGGGTTTCAGCATATTGGTCAGGCTGGTCTCGAACTTCTGACCACATGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCGGCCTAGTAGACACTAATTTTCTTTCTTTCTTTCTTTTTTTGAGAAAGAGTCTTGCTCTGTCGCCCAGGATGGAGTGCAGTGGCGCGATCTCGGCTCAGTTGGGCACTAATTTTCATTTGATGAACGCCTCTCCTTCGTATATTGTTAAAACTACCACCATGATCCAGGGGGAGATAAAAGAAATCCTAAATCCAGCTTGATCAGTGTTTCACTCCCTGGCATCTTTATCACCACCTAAGGTAGCATGGACCTCTATACCATCTGCCTTAACCTTCTGATCCTCCTGCTTTTAGCCCACTAACTAGCACATGCTGAGAAGGGCATCAGCTACTTGAAAAGAGTCAATGGGCTTGAGTGGAAAAGAAAATAGAGACAGCAGGGTCATCGGTCACATTGGCAAGGGGGCATGAAAAGGGAGTGGAGAGGCTTTGAGATCTTACTTTTCTTTCGTTCTAGGCTCTTAGTGGAAGAATTAAATCAGCCTGCAGAAGAGACTGAAATGAGGCACCTCTTGTCACAGTCAAGGCAGAAGCGGAAACGGAGGCCGAGACTGCGCAGGCGCAGAGGAGGCTAGCGTTCCTTGCTGCCTCGCCCCGCGGCCTCTAGGAGACAGGGGCCACGGGGAGAGCACAGCCACCCGGCGCGAAGAGCCCTCTGTACCCCGCTTCCTCTTGAGGCCCTCGGACCGTCCAGGAAATGTCTGGGAGCCCGCCTGCGGAGGGCATAGCGCCGACCCTCGCTCCCCGCCCAGGACCCGAATGAACCTGGAGAGCGGATGCCAGCAGTGGCCGAGGCGCTAGGACAGGAAGGACCGCCAGACCTCTCAAGATCAGCCTTCCTCGCCACCGTTCTCACCTCTTTGTCCGCTGCCTTCTCCTCAATGCCTAGCAGCGCGTACAGGTCCATCTGTAAGAGCTCCTTGGTCACTGCCATGGTTCCGGCCTGACGGATTCGTACTACAACTCCCAAGAGTCTAAGCGCGCGTGAGGACTGCAGGCTCCGAGCGGCGCCTAGCCCTCTGGGAATTGTGTTCTGGGTCAGGCTTGACTGACTCTGAGGGAGGCCGGCAGTCGTGAATGAACTACGACTCCCAGCAGCCCCCGTTGCCGCCGCTGCCGTACGCTGGCTGCAGGAGAGCGTCCGGATTCCCTGCTCTAGGTCGCGGCGGGACAGTGCCAGTGGGCGTGTGGGGCGGGGCAGGGCAGGGAAGGGAAGGGCGGAGCTGGGGTGAGGGTCCAAGGGGCCCAGGACTTGGCCGGCGTGATCTCAGCTCTGCAGACCCTGCGGTGCTGGGAGCCACCGTGGAGAGTAGGTGCTACGGCTGCGCTGTCAAGTTCACCCTCTTCAAGAAGGAGGCGAGTCTTCCCTCCCCGAGGGCTGCAGGGCCAGGGAGGAGAGGAGGGAAAAGCGCGGGACTTAACGTCCAAAGACTTGGTCTTACGGCTCCTTTCCAGCTGTGTGGTTTTGATGAAGTCATTGATCCTCAGTTTCCATTTCTGTAAAATGGGGCTAACATTCTCTCGCTTTCAGGGTTTATGTGAGGGTCCACTGAAGTGCTTTAGGTGAGAGTTCCCTATAAACTGTAAAGCGCGCTGCCGTCGTTTTTGCAAAGCTACTCTTTTCTGTCGGCCCAGTGTAGCATCTGGCGGTTTTCTTCTCTCCACCCTGCTCCTCCGAAGCGCGGTGTCCATCACACCAAGCCCGTTACTCCCTCTGCTCTGAAATCTTCCCCATCCCGCAGCCTGCCCTTCTCCAGGTCGCTGGAGTTAGATTACCACACTTCCTCCTGCTTCCGGGGCACCATGGTGAAGGCTGACTGTCCTGTCCCTATCACAGACCTGCCAGATTCCTCTGGTAAACTGCAGGTTCCCTCTGCCTCAGTTGTGGCCAGGGATTCTGACCAGGAGATGATGGGAACTAGATGGAGTAAATTAGTGTCACGCAGGAAGGCAGGACCGTGCAGCATTCACCAACCTGGATTTTGGAGTCAGCGTTCAAATCTGAGCTCTGCTGTCTTATTGAGGCGGTGACCTTGGTTTGGATAAGTTATGTAACCTCTCTGGCCCTCTCAAAATAAGGATAATCACGGTTGGCATCAAGATTAAGTAAAATAATGTGTGTAAATTGTAAGGAATAAATCACATGATGAATGTTAAGTACTGGGTTTAGTGCCTGGCACATAGTAAGTGCTTAATAAATGGAGGCTATTGTTAGCCCATCCTGAGCCAAGCCTCCCTCCATCTCTGCAAGAGCAGAGGAGGCATCGGCTCTGCCCTGTCTCTCTGATTCTCCTTTGTGGAAGAGTCAGTGGCCTGAAATACTGGGCTTTATCTATCTGTCTTCTACATCCCTGGGTCAGGGAATTGAAGACAGGGTAGAAAGCATGGGAATTTTGTATAAACCTTCATTTGGCTTGAATAAGGTACTGGAAACCGAGGAATTGCTTTACTCACCATCCCTAGGCCTTAGGGGCCCCACTCCTCTTCTTCCTCCCAGCAGCTGGTCATAACTTCAGTGACTTCTCTCTGTGTGTGCTTGGAGAGTCCCTGGGAGCAGCCTGCAGGGGCGGGTGAGAGGGGGATCTCCCGCTTCATGTTTCTTGTAGTACGGCTGTAAGAATTGTGGCAGGGCCTTCTGTTCAGGCTGCCTAAGCTTCAGTGCAGCAGTGCCTCGGACTGGGAACACCCAACAGAAAGTCTGCAAGCAATGCCATGAGGTCCTGACCAGGTAAGAGGCAGGCATGGGTGAAAGTTCAGCCAAGTATGGCAGTGGGCATCTGGCCAGCCCTCACAGCTTTGTACTCTGTCGCGAGAGTCAGCCGAGGAAGTGTTTGGAGTGGGGGGCACTGCCTGGTGGGATGGCAGGATTTATAACACTAGATTTCTTCTCTGTAGAGGGTCTTCTGCCAATGCCTCCAAGTGGTCACCACCTCAGAACTATAAGAAGTAAGTGCTGAAGAGAAAAAGACAAAGAGCATTGGGGAAAGGATAAGGGAGCCATAGGGAAAGACCCTGCCCCCATCTTCTAGATAAAATGAGCACAGAATCAGGAGAATTCTCTCCTCTCTGGCTCCTGACTGCCCTCTTGGGCTGGTAAAGCAGCTCTTCAGCCCTCTCTCCAGGACAGGCACTTGGTAGAGCTTGTCCTTTCAGCTGGACCGTCTGGCTGGTCAGCCAGGTTGGGCTGCAGGGTGACATGAGTGAGGGGCACAGCAGATTGCCCATTGGAGGCCTCCCTAAGTGCCCAGAAATGATTTGATTTGAATGGGAAACAGTGAGTGGGTGCCTTCACTCTTCCCCTCTGCCTTCTTCAAGAGCCTCTATCTCATATCCTGCCAGGCGTGTGGCAG
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Task1_train_20537
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A mutation found in DLL4 (delta like canonical Notch ligand 4) on Chromosome 15 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Adams-Oliver syndrome
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CAAGCCCTGGCAGGGGGCAGAAGGGAGAAGGCACGCGCTGGGCACGCCCCCCCTTAGCTAGAGAGGGAGACGCCCAACAGGTGCACAGAGAGGGCCCCGAGCCTTAGACCCTTAGCCCCTAGCCTTGCTCAGAGTGGCCACAGAGAGGTTAACGCTTCTGCTGGCTTCCCTGCTGCGCTGGGGACGCGTGGTGGGTGGGCACTCATAGGTTGGGGGCCGTTGAGACAAGGGCTCCAGAAGCTCCAGGAAGGAAAAGGAGATCGGATTTCCCTAGCGCTGGTTTTTGCATTCCGGGCTTAAGTTCTTTTTACCTGCTTTGGAACACTAGGTAACTAGCGCCTGCTGCGGATGCACAGCCTACAGGGACTGCCTAGTGTCTCCGCCCCCAAGACCATCCCCGAACCACCCACTCACCTCCTGCCCCATTACCGGGCAACCCCTCTATCCTCCGGCGGCCAGGGTCTCAGCCCTTAACCCCGCCATCACGGAGGACTGGTCACCTCGGCACGCGCAGAGCTGGGGGACCTAGAGGTTGGGAGCGGCACGGAGGGGCGGGGACCTGCGCCCGACTGGCTGACGGGGAGGGGGGAGCGGCGGGGGCGGAGGCCCCCTCCGGGCGGCGCTGGGACTGTAGCAGCTAGAGGCCGGGAGGGGAGGGGAGAATGACCATGAGTCTGAGTGACAGGCGGCGAGGAGAGGAGCCAATATATATAAGGAAGGCCCCCAGCGCGCAGGTTTCAGTAGCGGCGCTGCGCGCAGGCCGGGAACACGAGGCCAAGAGCCGCAGCCCCAGCCGCCTTGGTGCAGCGTACACCGGCACTAGCCCGCTTGCAGCCCCAGGATTAGACAGAAGACGCGTCCTCGGCGCGGTCGCCGCCCAGCCGTAGTCACCTGGATTACCTACAGCGGCAGCTGCAGCGGAGCCAGCGAGAAGGCCAAAGGGGAGCAGCGTCCCGAGAGGAGCGCCTCTTTTCAGGGACCCCGCCGGCTGGCGGACGCGCGGGAAAGCGGCGTCGCGAACAGAGCCAGATTGAGGGCCCGCGGGTGGAGAGAGCGACGCCCGAGGGGATGGCGGCAGCGTCCCGGAGCGCCTCTGGCTGGGCGCTACTGCTGCTGGTGGCACTTTGGCAGCAGGTAACACGTCCCGCGCCCTCTCCGTCCCCTCTGCCGCGCTCTGGGCCTCAGCCCCGGGCACCAGCTGAGCTGACCGGTCCCCTCCCTCCTTCCCTCGGTCCCTGTGCAATAGCGCGCGGCCGGCTCCGGCGTCTTCCAGCTGCAGCTGCAGGAGTTCATCAACGAGCGCGGCGTACTGGCCAGTGGGCGGCCTTGCGAGCCCGGCTGCCGGACTTTCTTCCGCGTCTGCCTTAAGCACTTCCAGGCGGTCGTCTCGCCCGGACCCTGCACCTTCGGGACCGTCTCCACGCCGGTATTGGGCACCAACTCCTTCGCTGTCCGGGACGACAGTAGCGGCGGGGGGCGCAACCCTCTCCAACTGCCCTTCAATTTCACCTGGCCGGTGAGCACAGCCTGGGCGCACTGGGAGGTCGCAGAAGCCGAGAGAGGAGGCGCCCTGGGACCAAAGCCCCCTCCCCAGATTTCCTTGTACACACACCCCCACCCCCAAAAAGCCCAGGATGCATTCTTTCCTGGCTCTTCCCGACTCTCTCCTGAGACTGATCCCAGAAAAGGCTCTCACCAGTCTCCGTCTTCCCAGTTTATGTCCTCCCGTCCCCAGCTCTTGGGACACGATTTTCATTACCTACCACTCTGGGGCGGTACCCTACCACCCCCTCCTCCAGTGGCTCTCCCTTACACTCTCCCGTCTCTCAACCCTCCCTCTACCGGGGGTTCTCCTCTCGCCTTCCCTGCTCAAGCGCTACACTGTGCACAGCCCCGTTATGTTGACCCGGGCGCAGTAACTGAATCCTGCAATTAGATTAATTAAACAGGCTGCCGCAAGGCACCCCCACCTCTCCCCGCTTGCTCATCTCGCCATCTCTCCGTCCCCCCACCCCCTTTCCCAGGGTACCTTCTCGCTCATCATCGAAGCTTGGCACGCGCCAGGAGACGACCTGCGGCCAGGTGAGTAGCTCGCTCCGCCACCACAGGGGGGCGACACGGCGCAGCGCCGAAAGAGTTAATCTGTTCTAGGCGGGGGAAGTGCGGGCTTGGGGGTGGGAGGCAGGACGCTTAGCTTGGCCTGGAGCTGCGCCCCGCGCTGGACGCTCGGATTCCGCTCGCTGCCTGGACTCAGAGCACAATTGCGTTTCCTGCGGGTTATTTTTGGCGTGGGAACGCGGGGAGTACGGCGGTGAGAAAGGCTGAAGCTGCCAGCGCCGCTGACGGGCCCCTTCCTGTATTTTACACCTTTCGCGAATTCCGCTCCTTTGGAAAGGGAATAATGGCTTTGGGATGTTGTTCTGACACAGAGGAAAAGGATATTTCAGCAGCACAACAATTCTCACTTTGAAAAGGAAAAAAGAAAACCATTACCCACCTCTGGAGGCAGAACCCCTGAATGGGCACCAAAGGACCCCCTGCTCCCAGGGTCCTCTCTAGCCTGGGGAGCTTTTCTTTCTTTTTCTCTTTTTTCCATTTTGACCTCTTTTCCTCTTTCCCCTCCCTATCTGCCTCCAAGACCCTGGGATATCTTAACATCCTTCTATTGTCCCCTTTTTGAATACTATCAGGCCCCCTGCACATGCACACACGTAGGGCAGCTACGTAGCGGGGCTTTGGGTCCCTCTGGCCTGTTCTTGCTGGCAGGCGGGGGTCATCTGGATAACTGGGCTGATTGGTTGGCTGATCACCATCATCACAGCCAAGAAGGACATTGGCCAGCCGTCACTGGCACCCTTGGGGACTGGCGACCCTTCCCTGACCCGACCCTCTGCCCCCTCAGAGGCCTTGCCACCAGATGCACTCATCAGCAAGATCGCCATCCAGGGCTCCCTAGCTGTGGGTCAGAACTGGTTATTGGATGAGCAAACCAGCACCCTCACAAGGCTGCGCTACTCTTACCGGGTCATCTGCAGTGACAACTACTATGGAGACAACTGCTCCCGCCTGTGCAAGAAGCGCAATGACCACTTCGGCCACTATGTGTGCCAGCCAGATGGCAACTTGTCCTGCCTGCCCGGTTGGACTGGGGAATATTGCCAACAGCGTAAGCAGTCAAGCTCCCACCTGTGTGGAAGGGGAGGGTCCCCTGAGGAAACACAGTGGAGCTTCTTGGTCACAGCTTGCCTCCCTTGAAGAGTGGGTCTGGGCCTCCTACTAGCTGGGCCTCAGGGATGCTGAGGGTGGGCTTGACCTCAGACCTCCTGTCTCTTCCCAGTGCTCCTCCCATCATGCCAAAGCCCACAAGAACCCCATCATGACATTCCATCCAGTTTGGCTTCTCCTTCCCTGTGCCATTATTTCACTTTAAGACACTCGGGGCTCCTCTGGGAGGCCAGGAGTAGGAAGAGGGCCCAGGAGAGCTAGGGGATCCCCAGGGCCAGCAGGTGAGAATGGGGCTTAAGAGTCCTTGGTATCCCAGCCTCACCCAGCTCTGTGTTCTTCCCTTAGCTATCTGTCTTTCGGGCTGTCATGAACAGAATGGCTACTGCAGCAAGCCAGCAGAGTGCCTGTGAGTAGGGGACAGGAAGTGGTGAGTGGGAGCCCTCCCTTGGCCAAGGCCTCTCACCTCACTCTGCCTCTCTCTTGTTCCCCAGCTGCCGCCCAGGCTGGCAGGGCCGGCTGTGTAACGAATGCATCCCCCACAATGGCTGTCGCCACGGCACCTGCAGCACTCCCTGGCAATGTACTTGTGATGAGGGCTGGGGAGGCCTGTTTTGTGACCAAGGTGAGTCAGGGTGAAGAGAGGGTGCAGAGGGTGCAAGAGATATGGGGCTGGGGGGTGGAAATCCGATTCGTCACCTGGATCCTTCTTACTTGGTGACTGCAGACTTGGCTTTCCCATGATCTTCCAAGGATCTTGGGTCTTTTAAGGATCTTTACAACTGGCCCAGAATGAGGCGGTGGGTCCTTCTCCAGGTGCGGCGGCAGGGGGTGGTGGAGCCAGGGTGGCTGAAAAACCCAGGGGGGTGACAAG
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CAAGCCCTGGCAGGGGGCAGAAGGGAGAAGGCACGCGCTGGGCACGCCCCCCCTTAGCTAGAGAGGGAGACGCCCAACAGGTGCACAGAGAGGGCCCCGAGCCTTAGACCCTTAGCCCCTAGCCTTGCTCAGAGTGGCCACAGAGAGGTTAACGCTTCTGCTGGCTTCCCTGCTGCGCTGGGGACGCGTGGTGGGTGGGCACTCATAGGTTGGGGGCCGTTGAGACAAGGGCTCCAGAAGCTCCAGGAAGGAAAAGGAGATCGGATTTCCCTAGCGCTGGTTTTTGCATTCCGGGCTTAAGTTCTTTTTACCTGCTTTGGAACACTAGGTAACTAGCGCCTGCTGCGGATGCACAGCCTACAGGGACTGCCTAGTGTCTCCGCCCCCAAGACCATCCCCGAACCACCCACTCACCTCCTGCCCCATTACCGGGCAACCCCTCTATCCTCCGGCGGCCAGGGTCTCAGCCCTTAACCCCGCCATCACGGAGGACTGGTCACCTCGGCACGCGCAGAGCTGGGGGACCTAGAGGTTGGGAGCGGCACGGAGGGGCGGGGACCTGCGCCCGACTGGCTGACGGGGAGGGGGGAGCGGCGGGGGCGGAGGCCCCCTCCGGGCGGCGCTGGGACTGTAGCAGCTAGAGGCCGGGAGGGGAGGGGAGAATGACCATGAGTCTGAGTGACAGGCGGCGAGGAGAGGAGCCAATATATATAAGGAAGGCCCCCAGCGCGCAGGTTTCAGTAGCGGCGCTGCGCGCAGGCCGGGAACACGAGGCCAAGAGCCGCAGCCCCAGCCGCCTTGGTGCAGCGTACACCGGCACTAGCCCGCTTGCAGCCCCAGGATTAGACAGAAGACGCGTCCTCGGCGCGGTCGCCGCCCAGCCGTAGTCACCTGGATTACCTACAGCGGCAGCTGCAGCGGAGCCAGCGAGAAGGCCAAAGGGGAGCAGCGTCCCGAGAGGAGCGCCTCTTTTCAGGGACCCCGCCGGCTGGCGGACGCGCGGGAAAGCGGCGTCGCGAACAGAGCCAGATTGAGGGCCCGCGGGTGGAGAGAGCGACGCCCGAGGGGATGGCGGCAGCGTCCCGGAGCGCCTCTGGCTGGGCGCTACTGCTGCTGGTGGCACTTTGGCAGCAGGTAACACGTCCCGCGCCCTCTCCGTCCCCTCTGCCGCGCTCTGGGCCTCAGCCCCGGGCACCAGCTGAGCTGACCGGTCCCCTCCCTCCTTCCCTCGGTCCCTGTGCAATAGCGCGCGGCCGGCTCCGGCGTCTTCCAGCTGCAGCTGCAGGAGTTCATCAACGAGCGCGGCGTACTGGCCAGTGGGCGGCCTTGCGAGCCCGGCTGCCGGACTTTCTTCCGCGTCTGCCTTAAGCACTTCCAGGCGGTCGTCTCGCCCGGACCCTGCACCTTCGGGACCGTCTCCACGCCGGTATTGGGCACCAACTCCTTCGCTGTCCGGGACGACAGTAGCGGCGGGGGGCGCAACCCTCTCCAACTGCCCTTCAATTTCACCTGGCCGGTGAGCACAGCCTGGGCGCACTGGGAGGTCGCAGAAGCCGAGAGAGGAGGCGCCCTGGGACCAAAGCCCCCTCCCCAGATTTCCTTGTACACACACCCCCACCCCCAAAAAGCCCAGGATGCATTCTTTCCTGGCTCTTCCCGACTCTCTCCTGAGACTGATCCCAGAAAAGGCTCTCACCAGTCTCCGTCTTCCCAGTTTATGTCCTCCCGTCCCCAGCTCTTGGGACACGATTTTCATTACCTACCACTCTGGGGCGGTACCCTACCACCCCCTCCTCCAGTGGCTCTCCCTTACACTCTCCCGTCTCTCAACCCTCCCTCTACCGGGGGTTCTCCTCTCGCCTTCCCTGCTCAAGCGCTACACTGTGCACAGCCCCGTTATGTTGACCCGGGCGCAGTAACTGAATCCTGCAATTAGATTAATTAAACAGGCTGCCGCAAGGCACCCCCACCTCTCCCCGCTTGCTCATCTCGCCATCTCTCCGTCCCCCCACCCCCTTTCCCAGGGTACCTTCTCGCTCATCATCGAACCTTGGCACGCGCCAGGAGACGACCTGCGGCCAGGTGAGTAGCTCGCTCCGCCACCACAGGGGGGCGACACGGCGCAGCGCCGAAAGAGTTAATCTGTTCTAGGCGGGGGAAGTGCGGGCTTGGGGGTGGGAGGCAGGACGCTTAGCTTGGCCTGGAGCTGCGCCCCGCGCTGGACGCTCGGATTCCGCTCGCTGCCTGGACTCAGAGCACAATTGCGTTTCCTGCGGGTTATTTTTGGCGTGGGAACGCGGGGAGTACGGCGGTGAGAAAGGCTGAAGCTGCCAGCGCCGCTGACGGGCCCCTTCCTGTATTTTACACCTTTCGCGAATTCCGCTCCTTTGGAAAGGGAATAATGGCTTTGGGATGTTGTTCTGACACAGAGGAAAAGGATATTTCAGCAGCACAACAATTCTCACTTTGAAAAGGAAAAAAGAAAACCATTACCCACCTCTGGAGGCAGAACCCCTGAATGGGCACCAAAGGACCCCCTGCTCCCAGGGTCCTCTCTAGCCTGGGGAGCTTTTCTTTCTTTTTCTCTTTTTTCCATTTTGACCTCTTTTCCTCTTTCCCCTCCCTATCTGCCTCCAAGACCCTGGGATATCTTAACATCCTTCTATTGTCCCCTTTTTGAATACTATCAGGCCCCCTGCACATGCACACACGTAGGGCAGCTACGTAGCGGGGCTTTGGGTCCCTCTGGCCTGTTCTTGCTGGCAGGCGGGGGTCATCTGGATAACTGGGCTGATTGGTTGGCTGATCACCATCATCACAGCCAAGAAGGACATTGGCCAGCCGTCACTGGCACCCTTGGGGACTGGCGACCCTTCCCTGACCCGACCCTCTGCCCCCTCAGAGGCCTTGCCACCAGATGCACTCATCAGCAAGATCGCCATCCAGGGCTCCCTAGCTGTGGGTCAGAACTGGTTATTGGATGAGCAAACCAGCACCCTCACAAGGCTGCGCTACTCTTACCGGGTCATCTGCAGTGACAACTACTATGGAGACAACTGCTCCCGCCTGTGCAAGAAGCGCAATGACCACTTCGGCCACTATGTGTGCCAGCCAGATGGCAACTTGTCCTGCCTGCCCGGTTGGACTGGGGAATATTGCCAACAGCGTAAGCAGTCAAGCTCCCACCTGTGTGGAAGGGGAGGGTCCCCTGAGGAAACACAGTGGAGCTTCTTGGTCACAGCTTGCCTCCCTTGAAGAGTGGGTCTGGGCCTCCTACTAGCTGGGCCTCAGGGATGCTGAGGGTGGGCTTGACCTCAGACCTCCTGTCTCTTCCCAGTGCTCCTCCCATCATGCCAAAGCCCACAAGAACCCCATCATGACATTCCATCCAGTTTGGCTTCTCCTTCCCTGTGCCATTATTTCACTTTAAGACACTCGGGGCTCCTCTGGGAGGCCAGGAGTAGGAAGAGGGCCCAGGAGAGCTAGGGGATCCCCAGGGCCAGCAGGTGAGAATGGGGCTTAAGAGTCCTTGGTATCCCAGCCTCACCCAGCTCTGTGTTCTTCCCTTAGCTATCTGTCTTTCGGGCTGTCATGAACAGAATGGCTACTGCAGCAAGCCAGCAGAGTGCCTGTGAGTAGGGGACAGGAAGTGGTGAGTGGGAGCCCTCCCTTGGCCAAGGCCTCTCACCTCACTCTGCCTCTCTCTTGTTCCCCAGCTGCCGCCCAGGCTGGCAGGGCCGGCTGTGTAACGAATGCATCCCCCACAATGGCTGTCGCCACGGCACCTGCAGCACTCCCTGGCAATGTACTTGTGATGAGGGCTGGGGAGGCCTGTTTTGTGACCAAGGTGAGTCAGGGTGAAGAGAGGGTGCAGAGGGTGCAAGAGATATGGGGCTGGGGGGTGGAAATCCGATTCGTCACCTGGATCCTTCTTACTTGGTGACTGCAGACTTGGCTTTCCCATGATCTTCCAAGGATCTTGGGTCTTTTAAGGATCTTTACAACTGGCCCAGAATGAGGCGGTGGGTCCTTCTCCAGGTGCGGCGGCAGGGGGTGGTGGAGCCAGGGTGGCTGAAAAACCCAGGGGGGTGACAAG
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Task1_train_20538
|
Located on Chromosome 15, this mutation impacts DLL4 (delta like canonical Notch ligand 4). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Adams-Oliver syndrome
|
GCGAACAGAGCCAGATTGAGGGCCCGCGGGTGGAGAGAGCGACGCCCGAGGGGATGGCGGCAGCGTCCCGGAGCGCCTCTGGCTGGGCGCTACTGCTGCTGGTGGCACTTTGGCAGCAGGTAACACGTCCCGCGCCCTCTCCGTCCCCTCTGCCGCGCTCTGGGCCTCAGCCCCGGGCACCAGCTGAGCTGACCGGTCCCCTCCCTCCTTCCCTCGGTCCCTGTGCAATAGCGCGCGGCCGGCTCCGGCGTCTTCCAGCTGCAGCTGCAGGAGTTCATCAACGAGCGCGGCGTACTGGCCAGTGGGCGGCCTTGCGAGCCCGGCTGCCGGACTTTCTTCCGCGTCTGCCTTAAGCACTTCCAGGCGGTCGTCTCGCCCGGACCCTGCACCTTCGGGACCGTCTCCACGCCGGTATTGGGCACCAACTCCTTCGCTGTCCGGGACGACAGTAGCGGCGGGGGGCGCAACCCTCTCCAACTGCCCTTCAATTTCACCTGGCCGGTGAGCACAGCCTGGGCGCACTGGGAGGTCGCAGAAGCCGAGAGAGGAGGCGCCCTGGGACCAAAGCCCCCTCCCCAGATTTCCTTGTACACACACCCCCACCCCCAAAAAGCCCAGGATGCATTCTTTCCTGGCTCTTCCCGACTCTCTCCTGAGACTGATCCCAGAAAAGGCTCTCACCAGTCTCCGTCTTCCCAGTTTATGTCCTCCCGTCCCCAGCTCTTGGGACACGATTTTCATTACCTACCACTCTGGGGCGGTACCCTACCACCCCCTCCTCCAGTGGCTCTCCCTTACACTCTCCCGTCTCTCAACCCTCCCTCTACCGGGGGTTCTCCTCTCGCCTTCCCTGCTCAAGCGCTACACTGTGCACAGCCCCGTTATGTTGACCCGGGCGCAGTAACTGAATCCTGCAATTAGATTAATTAAACAGGCTGCCGCAAGGCACCCCCACCTCTCCCCGCTTGCTCATCTCGCCATCTCTCCGTCCCCCCACCCCCTTTCCCAGGGTACCTTCTCGCTCATCATCGAAGCTTGGCACGCGCCAGGAGACGACCTGCGGCCAGGTGAGTAGCTCGCTCCGCCACCACAGGGGGGCGACACGGCGCAGCGCCGAAAGAGTTAATCTGTTCTAGGCGGGGGAAGTGCGGGCTTGGGGGTGGGAGGCAGGACGCTTAGCTTGGCCTGGAGCTGCGCCCCGCGCTGGACGCTCGGATTCCGCTCGCTGCCTGGACTCAGAGCACAATTGCGTTTCCTGCGGGTTATTTTTGGCGTGGGAACGCGGGGAGTACGGCGGTGAGAAAGGCTGAAGCTGCCAGCGCCGCTGACGGGCCCCTTCCTGTATTTTACACCTTTCGCGAATTCCGCTCCTTTGGAAAGGGAATAATGGCTTTGGGATGTTGTTCTGACACAGAGGAAAAGGATATTTCAGCAGCACAACAATTCTCACTTTGAAAAGGAAAAAAGAAAACCATTACCCACCTCTGGAGGCAGAACCCCTGAATGGGCACCAAAGGACCCCCTGCTCCCAGGGTCCTCTCTAGCCTGGGGAGCTTTTCTTTCTTTTTCTCTTTTTTCCATTTTGACCTCTTTTCCTCTTTCCCCTCCCTATCTGCCTCCAAGACCCTGGGATATCTTAACATCCTTCTATTGTCCCCTTTTTGAATACTATCAGGCCCCCTGCACATGCACACACGTAGGGCAGCTACGTAGCGGGGCTTTGGGTCCCTCTGGCCTGTTCTTGCTGGCAGGCGGGGGTCATCTGGATAACTGGGCTGATTGGTTGGCTGATCACCATCATCACAGCCAAGAAGGACATTGGCCAGCCGTCACTGGCACCCTTGGGGACTGGCGACCCTTCCCTGACCCGACCCTCTGCCCCCTCAGAGGCCTTGCCACCAGATGCACTCATCAGCAAGATCGCCATCCAGGGCTCCCTAGCTGTGGGTCAGAACTGGTTATTGGATGAGCAAACCAGCACCCTCACAAGGCTGCGCTACTCTTACCGGGTCATCTGCAGTGACAACTACTATGGAGACAACTGCTCCCGCCTGTGCAAGAAGCGCAATGACCACTTCGGCCACTATGTGTGCCAGCCAGATGGCAACTTGTCCTGCCTGCCCGGTTGGACTGGGGAATATTGCCAACAGCGTAAGCAGTCAAGCTCCCACCTGTGTGGAAGGGGAGGGTCCCCTGAGGAAACACAGTGGAGCTTCTTGGTCACAGCTTGCCTCCCTTGAAGAGTGGGTCTGGGCCTCCTACTAGCTGGGCCTCAGGGATGCTGAGGGTGGGCTTGACCTCAGACCTCCTGTCTCTTCCCAGTGCTCCTCCCATCATGCCAAAGCCCACAAGAACCCCATCATGACATTCCATCCAGTTTGGCTTCTCCTTCCCTGTGCCATTATTTCACTTTAAGACACTCGGGGCTCCTCTGGGAGGCCAGGAGTAGGAAGAGGGCCCAGGAGAGCTAGGGGATCCCCAGGGCCAGCAGGTGAGAATGGGGCTTAAGAGTCCTTGGTATCCCAGCCTCACCCAGCTCTGTGTTCTTCCCTTAGCTATCTGTCTTTCGGGCTGTCATGAACAGAATGGCTACTGCAGCAAGCCAGCAGAGTGCCTGTGAGTAGGGGACAGGAAGTGGTGAGTGGGAGCCCTCCCTTGGCCAAGGCCTCTCACCTCACTCTGCCTCTCTCTTGTTCCCCAGCTGCCGCCCAGGCTGGCAGGGCCGGCTGTGTAACGAATGCATCCCCCACAATGGCTGTCGCCACGGCACCTGCAGCACTCCCTGGCAATGTACTTGTGATGAGGGCTGGGGAGGCCTGTTTTGTGACCAAGGTGAGTCAGGGTGAAGAGAGGGTGCAGAGGGTGCAAGAGATATGGGGCTGGGGGGTGGAAATCCGATTCGTCACCTGGATCCTTCTTACTTGGTGACTGCAGACTTGGCTTTCCCATGATCTTCCAAGGATCTTGGGTCTTTTAAGGATCTTTACAACTGGCCCAGAATGAGGCGGTGGGTCCTTCTCCAGGTGCGGCGGCAGGGGGTGGTGGAGCCAGGGTGGCTGAAAAACCCAGGGGGGTGACAAGGTCGGCAGCCTGGAGGTTGCACTCATAAATCCTAGCAAAGCCAAAGAGAGAGGGATGGCAGGCTCAGTTCCTCTTTCAACCCCGTAGTTACCTATTAACCCCCTGAGTGTTTGCTTACCTTCCAGGGCTGTTTGAGCAGCTCTCCCCTAAACAGCTGTCCGGTGGGGTGTGCCCACCGGCCACCTGAGGCTGTGGGTGAGCTGGGCCTCTGGGCGGAGTGGCATCTAACCGACTTTTCGGTGTGGGCACAAACGGCCTCCCCTGCTCTTACCTAGTTACCACCTGCCTGAACCCATGCGGTCTCTACCTGGTGTTTAGGGGTAGTCACTCTCTGGCTATACAGGGGCCTTTCAGCCCCAACCTTGGGGGAGGAGGAAGCCTTTTTTCTTGCATCCTGCTAGCCAGCTGCAGCCAGCTGCAGCTCCCATTTTCAGGATCAAATGGGTGCACCTGCTGCCCAGAGACACCGGCGCAGGCCTGGGTAGGGTGGGCAGAGAGCTTGCCAGGGTGGAAAGAAATTGCCTAGGCCCTGACTTGCTGTCAACAAGGGGCTTGGGATTCAGTCCCTGTGTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTCCCTTTACTACCATCCCCACCCCAACACTCACACACCTGGTTCCTGCTCATTCTCTTCCCTCTCCACCATATTTGCTCCCAGGTGACACAGTCATATACTCATCATATGCAAACACAGCACTTGCAGGCCATATATTTACTCTGTCTGGTTCTCCCTCCCTGTCCTTCCCAAATAAAAAAACAAATACTTATATTTCAAAATACCCTTGTAACACCTCTTCCTTTAAAAAATGCCCGATTACTGCCTATGGTGGCTCTCATCTCTCCTCTACCATTTCTACCTGTTGAAATTTTATCCCTCCTTCCAGGCTTATCTCAGCTGCCCCTCCTCCATGAAGCCTTTTCTGACTTCCTCCCCGACATGTGGCCTTGCCCTCTGCTCTTCTTCCTTATCTTCATCCTACTTGG
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GCGAACAGAGCCAGATTGAGGGCCCGCGGGTGGAGAGAGCGACGCCCGAGGGGATGGCGGCAGCGTCCCGGAGCGCCTCTGGCTGGGCGCTACTGCTGCTGGTGGCACTTTGGCAGCAGGTAACACGTCCCGCGCCCTCTCCGTCCCCTCTGCCGCGCTCTGGGCCTCAGCCCCGGGCACCAGCTGAGCTGACCGGTCCCCTCCCTCCTTCCCTCGGTCCCTGTGCAATAGCGCGCGGCCGGCTCCGGCGTCTTCCAGCTGCAGCTGCAGGAGTTCATCAACGAGCGCGGCGTACTGGCCAGTGGGCGGCCTTGCGAGCCCGGCTGCCGGACTTTCTTCCGCGTCTGCCTTAAGCACTTCCAGGCGGTCGTCTCGCCCGGACCCTGCACCTTCGGGACCGTCTCCACGCCGGTATTGGGCACCAACTCCTTCGCTGTCCGGGACGACAGTAGCGGCGGGGGGCGCAACCCTCTCCAACTGCCCTTCAATTTCACCTGGCCGGTGAGCACAGCCTGGGCGCACTGGGAGGTCGCAGAAGCCGAGAGAGGAGGCGCCCTGGGACCAAAGCCCCCTCCCCAGATTTCCTTGTACACACACCCCCACCCCCAAAAAGCCCAGGATGCATTCTTTCCTGGCTCTTCCCGACTCTCTCCTGAGACTGATCCCAGAAAAGGCTCTCACCAGTCTCCGTCTTCCCAGTTTATGTCCTCCCGTCCCCAGCTCTTGGGACACGATTTTCATTACCTACCACTCTGGGGCGGTACCCTACCACCCCCTCCTCCAGTGGCTCTCCCTTACACTCTCCCGTCTCTCAACCCTCCCTCTACCGGGGGTTCTCCTCTCGCCTTCCCTGCTCAAGCGCTACACTGTGCACAGCCCCGTTATGTTGACCCGGGCGCAGTAACTGAATCCTGCAATTAGATTAATTAAACAGGCTGCCGCAAGGCACCCCCACCTCTCCCCGCTTGCTCATCTCGCCATCTCTCCGTCCCCCCACCCCCTTTCCCAGGGTACCTTCTCGCTCATCATCGAAGCTTGGCACGCGCCAGGAGACGACCTGCGGCCAGGTGAGTAGCTCGCTCCGCCACCACAGGGGGGCGACACGGCGCAGCGCCGAAAGAGTTAATCTGTTCTAGGCGGGGGAAGTGCGGGCTTGGGGGTGGGAGGCAGGACGCTTAGCTTGGCCTGGAGCTGCGCCCCGCGCTGGACGCTCGGATTCCGCTCGCTGCCTGGACTCAGAGCACAATTGCGTTTCCTGCGGGTTATTTTTGGCGTGGGAACGCGGGGAGTACGGCGGTGAGAAAGGCTGAAGCTGCCAGCGCCGCTGACGGGCCCCTTCCTGTATTTTACACCTTTCGCGAATTCCGCTCCTTTGGAAAGGGAATAATGGCTTTGGGATGTTGTTCTGACACAGAGGAAAAGGATATTTCAGCAGCACAACAATTCTCACTTTGAAAAGGAAAAAAGAAAACCATTACCCACCTCTGGAGGCAGAACCCCTGAATGGGCACCAAAGGACCCCCTGCTCCCAGGGTCCTCTCTAGCCTGGGGAGCTTTTCTTTCTTTTTCTCTTTTTTCCATTTTGACCTCTTTTCCTCTTTCCCCTCCCTATCTGCCTCCAAGACCCTGGGATATCTTAACATCCTTCTATTGTCCCCTTTTTGAATACTATCAGGCCCCCTGCACATGCACACACGTAGGGCAGCTACGTAGCGGGGCTTTGGGTCCCTCTGGCCTGTTCTTGCTGGCAGGCGGGGGTCATCTGGATAACTGGGCTGATTGGTTGGCTGATCACCATCATCACAGCCAAGAAGGACATTGGCCAGCCGTCACTGGCACCCTTGGGGACTGGCGACCCTTCCCTGACCCGACCCTCTGCCCCCTCAGAGGCCTTGCCACCAGATGCACTCATCAGCAAGATCGCCATCCAGGGCTCCCTAGCTGTGGGTCAGAACTGGTTATTGGATGAGCAAACCAGCACCCTCACAAGGCTGCGCTACTCTTACCGGGTCATCTGCAGTGACAACTACTATGGAGACAACTGCTCCTGCCTGTGCAAGAAGCGCAATGACCACTTCGGCCACTATGTGTGCCAGCCAGATGGCAACTTGTCCTGCCTGCCCGGTTGGACTGGGGAATATTGCCAACAGCGTAAGCAGTCAAGCTCCCACCTGTGTGGAAGGGGAGGGTCCCCTGAGGAAACACAGTGGAGCTTCTTGGTCACAGCTTGCCTCCCTTGAAGAGTGGGTCTGGGCCTCCTACTAGCTGGGCCTCAGGGATGCTGAGGGTGGGCTTGACCTCAGACCTCCTGTCTCTTCCCAGTGCTCCTCCCATCATGCCAAAGCCCACAAGAACCCCATCATGACATTCCATCCAGTTTGGCTTCTCCTTCCCTGTGCCATTATTTCACTTTAAGACACTCGGGGCTCCTCTGGGAGGCCAGGAGTAGGAAGAGGGCCCAGGAGAGCTAGGGGATCCCCAGGGCCAGCAGGTGAGAATGGGGCTTAAGAGTCCTTGGTATCCCAGCCTCACCCAGCTCTGTGTTCTTCCCTTAGCTATCTGTCTTTCGGGCTGTCATGAACAGAATGGCTACTGCAGCAAGCCAGCAGAGTGCCTGTGAGTAGGGGACAGGAAGTGGTGAGTGGGAGCCCTCCCTTGGCCAAGGCCTCTCACCTCACTCTGCCTCTCTCTTGTTCCCCAGCTGCCGCCCAGGCTGGCAGGGCCGGCTGTGTAACGAATGCATCCCCCACAATGGCTGTCGCCACGGCACCTGCAGCACTCCCTGGCAATGTACTTGTGATGAGGGCTGGGGAGGCCTGTTTTGTGACCAAGGTGAGTCAGGGTGAAGAGAGGGTGCAGAGGGTGCAAGAGATATGGGGCTGGGGGGTGGAAATCCGATTCGTCACCTGGATCCTTCTTACTTGGTGACTGCAGACTTGGCTTTCCCATGATCTTCCAAGGATCTTGGGTCTTTTAAGGATCTTTACAACTGGCCCAGAATGAGGCGGTGGGTCCTTCTCCAGGTGCGGCGGCAGGGGGTGGTGGAGCCAGGGTGGCTGAAAAACCCAGGGGGGTGACAAGGTCGGCAGCCTGGAGGTTGCACTCATAAATCCTAGCAAAGCCAAAGAGAGAGGGATGGCAGGCTCAGTTCCTCTTTCAACCCCGTAGTTACCTATTAACCCCCTGAGTGTTTGCTTACCTTCCAGGGCTGTTTGAGCAGCTCTCCCCTAAACAGCTGTCCGGTGGGGTGTGCCCACCGGCCACCTGAGGCTGTGGGTGAGCTGGGCCTCTGGGCGGAGTGGCATCTAACCGACTTTTCGGTGTGGGCACAAACGGCCTCCCCTGCTCTTACCTAGTTACCACCTGCCTGAACCCATGCGGTCTCTACCTGGTGTTTAGGGGTAGTCACTCTCTGGCTATACAGGGGCCTTTCAGCCCCAACCTTGGGGGAGGAGGAAGCCTTTTTTCTTGCATCCTGCTAGCCAGCTGCAGCCAGCTGCAGCTCCCATTTTCAGGATCAAATGGGTGCACCTGCTGCCCAGAGACACCGGCGCAGGCCTGGGTAGGGTGGGCAGAGAGCTTGCCAGGGTGGAAAGAAATTGCCTAGGCCCTGACTTGCTGTCAACAAGGGGCTTGGGATTCAGTCCCTGTGTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTCCCTTTACTACCATCCCCACCCCAACACTCACACACCTGGTTCCTGCTCATTCTCTTCCCTCTCCACCATATTTGCTCCCAGGTGACACAGTCATATACTCATCATATGCAAACACAGCACTTGCAGGCCATATATTTACTCTGTCTGGTTCTCCCTCCCTGTCCTTCCCAAATAAAAAAACAAATACTTATATTTCAAAATACCCTTGTAACACCTCTTCCTTTAAAAAATGCCCGATTACTGCCTATGGTGGCTCTCATCTCTCCTCTACCATTTCTACCTGTTGAAATTTTATCCCTCCTTCCAGGCTTATCTCAGCTGCCCCTCCTCCATGAAGCCTTTTCTGACTTCCTCCCCGACATGTGGCCTTGCCCTCTGCTCTTCTTCCTTATCTTCATCCTACTTGG
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Task1_train_20539
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A sequence alteration has been identified in DLL4 (delta like canonical Notch ligand 4) on Chromosome 15. Is it disease-inducing or harmless?
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Pathogenic; Adams-Oliver syndrome
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GGGTGGAGAGAGCGACGCCCGAGGGGATGGCGGCAGCGTCCCGGAGCGCCTCTGGCTGGGCGCTACTGCTGCTGGTGGCACTTTGGCAGCAGGTAACACGTCCCGCGCCCTCTCCGTCCCCTCTGCCGCGCTCTGGGCCTCAGCCCCGGGCACCAGCTGAGCTGACCGGTCCCCTCCCTCCTTCCCTCGGTCCCTGTGCAATAGCGCGCGGCCGGCTCCGGCGTCTTCCAGCTGCAGCTGCAGGAGTTCATCAACGAGCGCGGCGTACTGGCCAGTGGGCGGCCTTGCGAGCCCGGCTGCCGGACTTTCTTCCGCGTCTGCCTTAAGCACTTCCAGGCGGTCGTCTCGCCCGGACCCTGCACCTTCGGGACCGTCTCCACGCCGGTATTGGGCACCAACTCCTTCGCTGTCCGGGACGACAGTAGCGGCGGGGGGCGCAACCCTCTCCAACTGCCCTTCAATTTCACCTGGCCGGTGAGCACAGCCTGGGCGCACTGGGAGGTCGCAGAAGCCGAGAGAGGAGGCGCCCTGGGACCAAAGCCCCCTCCCCAGATTTCCTTGTACACACACCCCCACCCCCAAAAAGCCCAGGATGCATTCTTTCCTGGCTCTTCCCGACTCTCTCCTGAGACTGATCCCAGAAAAGGCTCTCACCAGTCTCCGTCTTCCCAGTTTATGTCCTCCCGTCCCCAGCTCTTGGGACACGATTTTCATTACCTACCACTCTGGGGCGGTACCCTACCACCCCCTCCTCCAGTGGCTCTCCCTTACACTCTCCCGTCTCTCAACCCTCCCTCTACCGGGGGTTCTCCTCTCGCCTTCCCTGCTCAAGCGCTACACTGTGCACAGCCCCGTTATGTTGACCCGGGCGCAGTAACTGAATCCTGCAATTAGATTAATTAAACAGGCTGCCGCAAGGCACCCCCACCTCTCCCCGCTTGCTCATCTCGCCATCTCTCCGTCCCCCCACCCCCTTTCCCAGGGTACCTTCTCGCTCATCATCGAAGCTTGGCACGCGCCAGGAGACGACCTGCGGCCAGGTGAGTAGCTCGCTCCGCCACCACAGGGGGGCGACACGGCGCAGCGCCGAAAGAGTTAATCTGTTCTAGGCGGGGGAAGTGCGGGCTTGGGGGTGGGAGGCAGGACGCTTAGCTTGGCCTGGAGCTGCGCCCCGCGCTGGACGCTCGGATTCCGCTCGCTGCCTGGACTCAGAGCACAATTGCGTTTCCTGCGGGTTATTTTTGGCGTGGGAACGCGGGGAGTACGGCGGTGAGAAAGGCTGAAGCTGCCAGCGCCGCTGACGGGCCCCTTCCTGTATTTTACACCTTTCGCGAATTCCGCTCCTTTGGAAAGGGAATAATGGCTTTGGGATGTTGTTCTGACACAGAGGAAAAGGATATTTCAGCAGCACAACAATTCTCACTTTGAAAAGGAAAAAAGAAAACCATTACCCACCTCTGGAGGCAGAACCCCTGAATGGGCACCAAAGGACCCCCTGCTCCCAGGGTCCTCTCTAGCCTGGGGAGCTTTTCTTTCTTTTTCTCTTTTTTCCATTTTGACCTCTTTTCCTCTTTCCCCTCCCTATCTGCCTCCAAGACCCTGGGATATCTTAACATCCTTCTATTGTCCCCTTTTTGAATACTATCAGGCCCCCTGCACATGCACACACGTAGGGCAGCTACGTAGCGGGGCTTTGGGTCCCTCTGGCCTGTTCTTGCTGGCAGGCGGGGGTCATCTGGATAACTGGGCTGATTGGTTGGCTGATCACCATCATCACAGCCAAGAAGGACATTGGCCAGCCGTCACTGGCACCCTTGGGGACTGGCGACCCTTCCCTGACCCGACCCTCTGCCCCCTCAGAGGCCTTGCCACCAGATGCACTCATCAGCAAGATCGCCATCCAGGGCTCCCTAGCTGTGGGTCAGAACTGGTTATTGGATGAGCAAACCAGCACCCTCACAAGGCTGCGCTACTCTTACCGGGTCATCTGCAGTGACAACTACTATGGAGACAACTGCTCCCGCCTGTGCAAGAAGCGCAATGACCACTTCGGCCACTATGTGTGCCAGCCAGATGGCAACTTGTCCTGCCTGCCCGGTTGGACTGGGGAATATTGCCAACAGCGTAAGCAGTCAAGCTCCCACCTGTGTGGAAGGGGAGGGTCCCCTGAGGAAACACAGTGGAGCTTCTTGGTCACAGCTTGCCTCCCTTGAAGAGTGGGTCTGGGCCTCCTACTAGCTGGGCCTCAGGGATGCTGAGGGTGGGCTTGACCTCAGACCTCCTGTCTCTTCCCAGTGCTCCTCCCATCATGCCAAAGCCCACAAGAACCCCATCATGACATTCCATCCAGTTTGGCTTCTCCTTCCCTGTGCCATTATTTCACTTTAAGACACTCGGGGCTCCTCTGGGAGGCCAGGAGTAGGAAGAGGGCCCAGGAGAGCTAGGGGATCCCCAGGGCCAGCAGGTGAGAATGGGGCTTAAGAGTCCTTGGTATCCCAGCCTCACCCAGCTCTGTGTTCTTCCCTTAGCTATCTGTCTTTCGGGCTGTCATGAACAGAATGGCTACTGCAGCAAGCCAGCAGAGTGCCTGTGAGTAGGGGACAGGAAGTGGTGAGTGGGAGCCCTCCCTTGGCCAAGGCCTCTCACCTCACTCTGCCTCTCTCTTGTTCCCCAGCTGCCGCCCAGGCTGGCAGGGCCGGCTGTGTAACGAATGCATCCCCCACAATGGCTGTCGCCACGGCACCTGCAGCACTCCCTGGCAATGTACTTGTGATGAGGGCTGGGGAGGCCTGTTTTGTGACCAAGGTGAGTCAGGGTGAAGAGAGGGTGCAGAGGGTGCAAGAGATATGGGGCTGGGGGGTGGAAATCCGATTCGTCACCTGGATCCTTCTTACTTGGTGACTGCAGACTTGGCTTTCCCATGATCTTCCAAGGATCTTGGGTCTTTTAAGGATCTTTACAACTGGCCCAGAATGAGGCGGTGGGTCCTTCTCCAGGTGCGGCGGCAGGGGGTGGTGGAGCCAGGGTGGCTGAAAAACCCAGGGGGGTGACAAGGTCGGCAGCCTGGAGGTTGCACTCATAAATCCTAGCAAAGCCAAAGAGAGAGGGATGGCAGGCTCAGTTCCTCTTTCAACCCCGTAGTTACCTATTAACCCCCTGAGTGTTTGCTTACCTTCCAGGGCTGTTTGAGCAGCTCTCCCCTAAACAGCTGTCCGGTGGGGTGTGCCCACCGGCCACCTGAGGCTGTGGGTGAGCTGGGCCTCTGGGCGGAGTGGCATCTAACCGACTTTTCGGTGTGGGCACAAACGGCCTCCCCTGCTCTTACCTAGTTACCACCTGCCTGAACCCATGCGGTCTCTACCTGGTGTTTAGGGGTAGTCACTCTCTGGCTATACAGGGGCCTTTCAGCCCCAACCTTGGGGGAGGAGGAAGCCTTTTTTCTTGCATCCTGCTAGCCAGCTGCAGCCAGCTGCAGCTCCCATTTTCAGGATCAAATGGGTGCACCTGCTGCCCAGAGACACCGGCGCAGGCCTGGGTAGGGTGGGCAGAGAGCTTGCCAGGGTGGAAAGAAATTGCCTAGGCCCTGACTTGCTGTCAACAAGGGGCTTGGGATTCAGTCCCTGTGTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTCCCTTTACTACCATCCCCACCCCAACACTCACACACCTGGTTCCTGCTCATTCTCTTCCCTCTCCACCATATTTGCTCCCAGGTGACACAGTCATATACTCATCATATGCAAACACAGCACTTGCAGGCCATATATTTACTCTGTCTGGTTCTCCCTCCCTGTCCTTCCCAAATAAAAAAACAAATACTTATATTTCAAAATACCCTTGTAACACCTCTTCCTTTAAAAAATGCCCGATTACTGCCTATGGTGGCTCTCATCTCTCCTCTACCATTTCTACCTGTTGAAATTTTATCCCTCCTTCCAGGCTTATCTCAGCTGCCCCTCCTCCATGAAGCCTTTTCTGACTTCCTCCCCGACATGTGGCCTTGCCCTCTGCTCTTCTTCCTTATCTTCATCCTACTTGGGTTGGCAGTTTGTGAGTTTCCCTGGCA
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GGGTGGAGAGAGCGACGCCCGAGGGGATGGCGGCAGCGTCCCGGAGCGCCTCTGGCTGGGCGCTACTGCTGCTGGTGGCACTTTGGCAGCAGGTAACACGTCCCGCGCCCTCTCCGTCCCCTCTGCCGCGCTCTGGGCCTCAGCCCCGGGCACCAGCTGAGCTGACCGGTCCCCTCCCTCCTTCCCTCGGTCCCTGTGCAATAGCGCGCGGCCGGCTCCGGCGTCTTCCAGCTGCAGCTGCAGGAGTTCATCAACGAGCGCGGCGTACTGGCCAGTGGGCGGCCTTGCGAGCCCGGCTGCCGGACTTTCTTCCGCGTCTGCCTTAAGCACTTCCAGGCGGTCGTCTCGCCCGGACCCTGCACCTTCGGGACCGTCTCCACGCCGGTATTGGGCACCAACTCCTTCGCTGTCCGGGACGACAGTAGCGGCGGGGGGCGCAACCCTCTCCAACTGCCCTTCAATTTCACCTGGCCGGTGAGCACAGCCTGGGCGCACTGGGAGGTCGCAGAAGCCGAGAGAGGAGGCGCCCTGGGACCAAAGCCCCCTCCCCAGATTTCCTTGTACACACACCCCCACCCCCAAAAAGCCCAGGATGCATTCTTTCCTGGCTCTTCCCGACTCTCTCCTGAGACTGATCCCAGAAAAGGCTCTCACCAGTCTCCGTCTTCCCAGTTTATGTCCTCCCGTCCCCAGCTCTTGGGACACGATTTTCATTACCTACCACTCTGGGGCGGTACCCTACCACCCCCTCCTCCAGTGGCTCTCCCTTACACTCTCCCGTCTCTCAACCCTCCCTCTACCGGGGGTTCTCCTCTCGCCTTCCCTGCTCAAGCGCTACACTGTGCACAGCCCCGTTATGTTGACCCGGGCGCAGTAACTGAATCCTGCAATTAGATTAATTAAACAGGCTGCCGCAAGGCACCCCCACCTCTCCCCGCTTGCTCATCTCGCCATCTCTCCGTCCCCCCACCCCCTTTCCCAGGGTACCTTCTCGCTCATCATCGAAGCTTGGCACGCGCCAGGAGACGACCTGCGGCCAGGTGAGTAGCTCGCTCCGCCACCACAGGGGGGCGACACGGCGCAGCGCCGAAAGAGTTAATCTGTTCTAGGCGGGGGAAGTGCGGGCTTGGGGGTGGGAGGCAGGACGCTTAGCTTGGCCTGGAGCTGCGCCCCGCGCTGGACGCTCGGATTCCGCTCGCTGCCTGGACTCAGAGCACAATTGCGTTTCCTGCGGGTTATTTTTGGCGTGGGAACGCGGGGAGTACGGCGGTGAGAAAGGCTGAAGCTGCCAGCGCCGCTGACGGGCCCCTTCCTGTATTTTACACCTTTCGCGAATTCCGCTCCTTTGGAAAGGGAATAATGGCTTTGGGATGTTGTTCTGACACAGAGGAAAAGGATATTTCAGCAGCACAACAATTCTCACTTTGAAAAGGAAAAAAGAAAACCATTACCCACCTCTGGAGGCAGAACCCCTGAATGGGCACCAAAGGACCCCCTGCTCCCAGGGTCCTCTCTAGCCTGGGGAGCTTTTCTTTCTTTTTCTCTTTTTTCCATTTTGACCTCTTTTCCTCTTTCCCCTCCCTATCTGCCTCCAAGACCCTGGGATATCTTAACATCCTTCTATTGTCCCCTTTTTGAATACTATCAGGCCCCCTGCACATGCACACACGTAGGGCAGCTACGTAGCGGGGCTTTGGGTCCCTCTGGCCTGTTCTTGCTGGCAGGCGGGGGTCATCTGGATAACTGGGCTGATTGGTTGGCTGATCACCATCATCACAGCCAAGAAGGACATTGGCCAGCCGTCACTGGCACCCTTGGGGACTGGCGACCCTTCCCTGACCCGACCCTCTGCCCCCTCAGAGGCCTTGCCACCAGATGCACTCATCAGCAAGATCGCCATCCAGGGCTCCCTAGCTGTGGGTCAGAACTGGTTATTGGATGAGCAAACCAGCACCCTCACAAGGCTGCGCTACTCTTACCGGGTCATCTGCAGTGACAACTACTATGGAGACAACTGCTCCCGCCTGTGCAAGAAGCGCAATGACCACCTCGGCCACTATGTGTGCCAGCCAGATGGCAACTTGTCCTGCCTGCCCGGTTGGACTGGGGAATATTGCCAACAGCGTAAGCAGTCAAGCTCCCACCTGTGTGGAAGGGGAGGGTCCCCTGAGGAAACACAGTGGAGCTTCTTGGTCACAGCTTGCCTCCCTTGAAGAGTGGGTCTGGGCCTCCTACTAGCTGGGCCTCAGGGATGCTGAGGGTGGGCTTGACCTCAGACCTCCTGTCTCTTCCCAGTGCTCCTCCCATCATGCCAAAGCCCACAAGAACCCCATCATGACATTCCATCCAGTTTGGCTTCTCCTTCCCTGTGCCATTATTTCACTTTAAGACACTCGGGGCTCCTCTGGGAGGCCAGGAGTAGGAAGAGGGCCCAGGAGAGCTAGGGGATCCCCAGGGCCAGCAGGTGAGAATGGGGCTTAAGAGTCCTTGGTATCCCAGCCTCACCCAGCTCTGTGTTCTTCCCTTAGCTATCTGTCTTTCGGGCTGTCATGAACAGAATGGCTACTGCAGCAAGCCAGCAGAGTGCCTGTGAGTAGGGGACAGGAAGTGGTGAGTGGGAGCCCTCCCTTGGCCAAGGCCTCTCACCTCACTCTGCCTCTCTCTTGTTCCCCAGCTGCCGCCCAGGCTGGCAGGGCCGGCTGTGTAACGAATGCATCCCCCACAATGGCTGTCGCCACGGCACCTGCAGCACTCCCTGGCAATGTACTTGTGATGAGGGCTGGGGAGGCCTGTTTTGTGACCAAGGTGAGTCAGGGTGAAGAGAGGGTGCAGAGGGTGCAAGAGATATGGGGCTGGGGGGTGGAAATCCGATTCGTCACCTGGATCCTTCTTACTTGGTGACTGCAGACTTGGCTTTCCCATGATCTTCCAAGGATCTTGGGTCTTTTAAGGATCTTTACAACTGGCCCAGAATGAGGCGGTGGGTCCTTCTCCAGGTGCGGCGGCAGGGGGTGGTGGAGCCAGGGTGGCTGAAAAACCCAGGGGGGTGACAAGGTCGGCAGCCTGGAGGTTGCACTCATAAATCCTAGCAAAGCCAAAGAGAGAGGGATGGCAGGCTCAGTTCCTCTTTCAACCCCGTAGTTACCTATTAACCCCCTGAGTGTTTGCTTACCTTCCAGGGCTGTTTGAGCAGCTCTCCCCTAAACAGCTGTCCGGTGGGGTGTGCCCACCGGCCACCTGAGGCTGTGGGTGAGCTGGGCCTCTGGGCGGAGTGGCATCTAACCGACTTTTCGGTGTGGGCACAAACGGCCTCCCCTGCTCTTACCTAGTTACCACCTGCCTGAACCCATGCGGTCTCTACCTGGTGTTTAGGGGTAGTCACTCTCTGGCTATACAGGGGCCTTTCAGCCCCAACCTTGGGGGAGGAGGAAGCCTTTTTTCTTGCATCCTGCTAGCCAGCTGCAGCCAGCTGCAGCTCCCATTTTCAGGATCAAATGGGTGCACCTGCTGCCCAGAGACACCGGCGCAGGCCTGGGTAGGGTGGGCAGAGAGCTTGCCAGGGTGGAAAGAAATTGCCTAGGCCCTGACTTGCTGTCAACAAGGGGCTTGGGATTCAGTCCCTGTGTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTCCCTTTACTACCATCCCCACCCCAACACTCACACACCTGGTTCCTGCTCATTCTCTTCCCTCTCCACCATATTTGCTCCCAGGTGACACAGTCATATACTCATCATATGCAAACACAGCACTTGCAGGCCATATATTTACTCTGTCTGGTTCTCCCTCCCTGTCCTTCCCAAATAAAAAAACAAATACTTATATTTCAAAATACCCTTGTAACACCTCTTCCTTTAAAAAATGCCCGATTACTGCCTATGGTGGCTCTCATCTCTCCTCTACCATTTCTACCTGTTGAAATTTTATCCCTCCTTCCAGGCTTATCTCAGCTGCCCCTCCTCCATGAAGCCTTTTCTGACTTCCTCCCCGACATGTGGCCTTGCCCTCTGCTCTTCTTCCTTATCTTCATCCTACTTGGGTTGGCAGTTTGTGAGTTTCCCTGGCA
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Task1_train_20540
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Consider a variant on Chromosome 15 in gene DLL4 (delta like canonical Notch ligand 4). Determine its clinical classification and disease relevance.
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Pathogenic; Adams-Oliver syndrome
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TCTCTACCTGGTGTTTAGGGGTAGTCACTCTCTGGCTATACAGGGGCCTTTCAGCCCCAACCTTGGGGGAGGAGGAAGCCTTTTTTCTTGCATCCTGCTAGCCAGCTGCAGCCAGCTGCAGCTCCCATTTTCAGGATCAAATGGGTGCACCTGCTGCCCAGAGACACCGGCGCAGGCCTGGGTAGGGTGGGCAGAGAGCTTGCCAGGGTGGAAAGAAATTGCCTAGGCCCTGACTTGCTGTCAACAAGGGGCTTGGGATTCAGTCCCTGTGTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTCCCTTTACTACCATCCCCACCCCAACACTCACACACCTGGTTCCTGCTCATTCTCTTCCCTCTCCACCATATTTGCTCCCAGGTGACACAGTCATATACTCATCATATGCAAACACAGCACTTGCAGGCCATATATTTACTCTGTCTGGTTCTCCCTCCCTGTCCTTCCCAAATAAAAAAACAAATACTTATATTTCAAAATACCCTTGTAACACCTCTTCCTTTAAAAAATGCCCGATTACTGCCTATGGTGGCTCTCATCTCTCCTCTACCATTTCTACCTGTTGAAATTTTATCCCTCCTTCCAGGCTTATCTCAGCTGCCCCTCCTCCATGAAGCCTTTTCTGACTTCCTCCCCGACATGTGGCCTTGCCCTCTGCTCTTCTTCCTTATCTTCATCCTACTTGGGTTGGCAGTTTGTGAGTTTCCCTGGCAGGACGTCTTCCAGTTCCAGTTGTGTTGTTTCACTTTTGGTTGACTGCACTGGTCATATGTGATTCAAGGTGCTTTAAGAAACATGATTTTCATCCTGGCTAACACAGTGAAACCCTGTCTGTATTAAAAATACAAAAGTTAGCCAGGTGTGGTGGCAGGCACCTGTAGCCCCAGCTGCTGGGAAGGCTGAGGCAGGAGAATGGCGAAGTAGAGCTTGCAGTGAGCCGAGGTCGTGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAAACATGATTTTAGGCTGGGTGCGATGGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTAGGTGGATCACTTGAAGTCAGGAGTTCGAGACCATCCTGGCCATCCTGGTGAAACCCCTGTAAAAATACAAATATTAATCGGGCACAGTGGCGCATGCCTGTAATCCCAGCTACTTAGAAGGTTGAGGTATGAGAATCGCTTGAACCCGGAAGGCGAAGGTTGTAGTGAGCCTATATCACATCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGTTAAAAAAAAAAAAAAAAGAAGGAAAGAAAGAGAAAGAGAGAGAAAGAAAGAAAGAAAGAGAAAGAAAAAAGATTTTATTGGTGGTGGAGGAAGGATGTTTGGGCCTGGGAGACTTTGAGTTGAGGTGTCTTTGAGCCAAACATGGGGGCAAACATGGACTGCAAGGAGCCTGGAGGTGAGTGCATTCCCTGGCCCTGCTCAGCTGCTTGGTTCCTGTTTCTGCAGATCTCAACTACTGCACCCACCACTCCCCATGCAAGAATGGGGCAACGTGCTCCAACAGTGGGCAGCGAAGCTACACCTGCACCTGTCGCCCAGGCTACACTGGTGTGGACTGTGAGCTGGAGCTCAGCGAGTGTGACAGCAACCCCTGTCGCAATGGAGGCAGCTGTAAGGTGAGGCCCAGACCAGCGCAGGAAGACAGAGGTGTCAGGTGGTGTCTGGGCATCCCTAACCTAGGCAGTTAGTGGATGTACAGCCATGGACAGGCATTGTGGGCAGGTGGAGCCCAGCCTTCAGTCACACATCCCTGCCCCCCAGGGTCTGACTTTGGCCCCTTTATGGTCTCTCTCCAGGACCAGGAGGATGGCTACCACTGCCTGTGTCCTCCGGGCTACTATGGCCTGCATTGTGAACACAGCACCTTGAGCTGCGCCGACTCCCCCTGCTTCAATGGGGGCTCCTGCCGGGAGCGCAACCAGGGGGCCAACTATGCTTGTGAATGTCCCCCCAACTTCACCGGCTCCAACTGCGAGAAGAAAGTGGACAGGTGCACCAGCAACCCCTGTGCCAACGGTGCGTGCTGCTGCCCTGCTAACCTGGTGGACTGGCCCTGGGGCTGAGAGAGACTTCTGGTGAGGGAGGGTCAGGAGAGGAGCGAGGCATTGTCTGCCACTCTGGCCCCCCATCTGCTCTGGAGGGCGAAGAGCTTGCTTGATCAGCTGGGGGGCTGTGGAAGCGGAGCTGGTTAGTTGCACGCAGGCCTTAGGAGCAGGGGTGGTATGCACCCTGCATAGCTTCCATTCCTATTCCCATGTCAGAACCCCGTCCTGGCTGGGGTGGCCTCTGACCCTCCCCAGGAAGTCCTGAGCTGGAGAGAGGGATGTTGGAGGCTTCATGTTTCTCCTCAAAGGAGGCAGTGATTCAGTCAGAGCCCTGCTCCTGGAGGCCTCATCTTGCCCCGTGCCCAGGTAGAGCATGAGGTAGCATGAGGCATCTTGAATGTTTGCACCTTTTGAGGCACAAAGCCTGTTGGTAATCCTTGTCTATCTGGCTCCCAGGTGACCCTCTGTGAGGCAGGCAGGCAGGCAGCGCTCAGGAGCTGGAGAGGGGTGGGAAGGGCTGAGAGGGAGTCTGCTCTCTCACTGAAGCCTCTGGCACTGCCATTTCTTCATCACTGAATGGGAAACTATAATACCTGTCCTCTGTCCTTCATGTGGTTGTGAAGATGAAGTAAAACAGTCATGATTGTACTTATCCGAGCATTAACTATATACCAAACATGGGCTCTTGCCTTCATGTACCTTCCCGGCTATCCTATGAAGGGGCTAGCATTCTACTCCAGTCTAACAAATGGGGAAACTGAGGCTTAGAGACACGGTTAAGCAGCAAGTGCCAGATCTCAGGCCACAGAGTGACAGCTGAGGTCCCAACTCAAGCCTATCTGTCTGATTCTACGTTAAAGTTCTGTAAGATGCTAGTCATTTTTATACATGAGCCCACTGAGGCCGAGAGAATCAAGGTCATGCTAAACTCCAGGTCTCCTGACTCTGTGCAGTTCTCTTTGTAGTGGGCTCTGCAGGTGGAGGTAGAAGGGCCCGAACGTGTTCCTGGAATGGGGCTCCCACCCCCTGCCCCAGGGAGCTCCCAGGCTATCACTGACTTGTGTCTCATGCGTCCTCACAGGGGGACAGTGCCTGAACCGAGGTCCAAGCCGCATGTGCCGCTGCCGTCCTGGATTCACGGGCACCTACTGTGAACTCCACGTCAGCGACTGTGCCCGTAACCCTTGCGCCCACGGTGGCACTTGCCATGACCTGGAGAATGGGCTCATGTGCACCTGCCCTGCCGGCTTCTCTGGCCGACGCTGTGAGGTGCGGACATCCATCGATGCCTGTGCCTCGAGTCCCTGCTTCAACAGGGCCACCTGCTACACCGACCTCTCCACAGACACCTTTGTGTGCAACTGCCCTTATGGCTTTGTGGGCAGCCGCTGCGAGTTCCCCGTGGGCTTGCCGCCCAGCTTCCCCTGGGTGGCCGTCTCGCTGGGTGTGGGGCTGGCAGTGCTGCTGGTACTGCTGGGCATGGTGGCAGTGGCTGTGCGGCAGCTGCGGCTTCGACGGCCGGACGACGGCAGCAGGGAAGCCATGAACAACTTGTCGGACTTCCAGAAGGACAACCTGATTCCTGCCGCCCAGCTTAAAAACACAAACCAGAAGAAGGAGCTGGAAGTGGACTGTGGCCTGGACAAGTCCAACTGTGGCAAACAGCAAAACCACACATTGGACTATAATCTGGCCCCAGGGCCCCTGGGGCGGGGGACCATGCCAGGAAAGTTTCCCCACAGTGACAAGAGCTTAGGAGAGAAGGCGCCACTGCGGTTACACAGGTGAGTGGCACCCAGAAGCCCAGGGCCTGGCCACCGGCCCCGACATGGTTCTGCCTAGGCTCCTCTTAGGCCAGGCGGGAAGCAGTTAAGCAGCTGAGGTTTTGTTACTGACAGGAAGATCCTCCAGTAGGATTTCTGTCAGGGGTCCTTTGTCCTTCCCTC
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TCTCTACCTGGTGTTTAGGGGTAGTCACTCTCTGGCTATACAGGGGCCTTTCAGCCCCAACCTTGGGGGAGGAGGAAGCCTTTTTTCTTGCATCCTGCTAGCCAGCTGCAGCCAGCTGCAGCTCCCATTTTCAGGATCAAATGGGTGCACCTGCTGCCCAGAGACACCGGCGCAGGCCTGGGTAGGGTGGGCAGAGAGCTTGCCAGGGTGGAAAGAAATTGCCTAGGCCCTGACTTGCTGTCAACAAGGGGCTTGGGATTCAGTCCCTGTGTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTCCCTTTACTACCATCCCCACCCCAACACTCACACACCTGGTTCCTGCTCATTCTCTTCCCTCTCCACCATATTTGCTCCCAGGTGACACAGTCATATACTCATCATATGCAAACACAGCACTTGCAGGCCATATATTTACTCTGTCTGGTTCTCCCTCCCTGTCCTTCCCAAATAAAAAAACAAATACTTATATTTCAAAATACCCTTGTAACACCTCTTCCTTTAAAAAATGCCCGATTACTGCCTATGGTGGCTCTCATCTCTCCTCTACCATTTCTACCTGTTGAAATTTTATCCCTCCTTCCAGGCTTATCTCAGCTGCCCCTCCTCCATGAAGCCTTTTCTGACTTCCTCCCCGACATGTGGCCTTGCCCTCTGCTCTTCTTCCTTATCTTCATCCTACTTGGGTTGGCAGTTTGTGAGTTTCCCTGGCAGGACGTCTTCCAGTTCCAGTTGTGTTGTTTCACTTTTGGTTGACTGCACTGGTCATATGTGATTCAAGGTGCTTTAAGAAACATGATTTTCATCCTGGCTAACACAGTGAAACCCTGTCTGTATTAAAAATACAAAAGTTAGCCAGGTGTGGTGGCAGGCACCTGTAGCCCCAGCTGCTGGGAAGGCTGAGGCAGGAGAATGGCGAAGTAGAGCTTGCAGTGAGCCGAGGTCGTGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAAACATGATTTTAGGCTGGGTGCGATGGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTAGGTGGATCACTTGAAGTCAGGAGTTCGAGACCATCCTGGCCATCCTGGTGAAACCCCTGTAAAAATACAAATATTAATCGGGCACAGTGGCGCATGCCTGTAATCCCAGCTACTTAGAAGGTTGAGGTATGAGAATCGCTTGAACCCGGAAGGCGAAGGTTGTAGTGAGCCTATATCACATCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGTTAAAAAAAAAAAAAAAAGAAGGAAAGAAAGAGAAAGAGAGAGAAAGAAAGAAAGAAAGAGAAAGAAAAAAGATTTTATTGGTGGTGGAGGAAGGATGTTTGGGCCTGGGAGACTTTGAGTTGAGGTGTCTTTGAGCCAAACATGGGGGCAAACATGGACTGCAAGGAGCCTGGAGGTGAGTGCATTCCCTGGCCCTGCTCAGCTGCTTGGTTCCTGTTTCTGCAGATCTCAACTACTGCACCCACCACTCCCCATGCAAGAATGGGGCAACGTGCTCCAACAGTGGGCAGCGAAGCTACACCTGCACCTGTCGCCCAGGCTACACTGGTGTGGACTGTGAGCTGGAGCTCAGCGAGTGTGACAGCAACCCCTGTCGCAATGGAGGCAGCTGTAAGGTGAGGCCCAGACCAGCGCAGGAAGACAGAGGTGTCAGGTGGTGTCTGGGCATCCCTAACCTAGGCAGTTAGTGGATGTACAGCCATGGACAGGCATTGTGGGCAGGTGGAGCCCAGCCTTCAGTCACACATCCCTGCCCCCCAGGGTCTGACTTTGGCCCCTTTATGGTCTCTCTCCAGGACCAGGAGGATGGCTACCACTGCCTGTGTCCTCCGGGCTACTATGGCCTGCATTGTGAACACAGCACCTTGAGCTGCGCCGACTCCCCCTGCTTCAATGGGGGCTCCTGCCGGGAGCGCAACCAGGGGGCCAACTATGCTTGTGAACGTCCCCCCAACTTCACCGGCTCCAACTGCGAGAAGAAAGTGGACAGGTGCACCAGCAACCCCTGTGCCAACGGTGCGTGCTGCTGCCCTGCTAACCTGGTGGACTGGCCCTGGGGCTGAGAGAGACTTCTGGTGAGGGAGGGTCAGGAGAGGAGCGAGGCATTGTCTGCCACTCTGGCCCCCCATCTGCTCTGGAGGGCGAAGAGCTTGCTTGATCAGCTGGGGGGCTGTGGAAGCGGAGCTGGTTAGTTGCACGCAGGCCTTAGGAGCAGGGGTGGTATGCACCCTGCATAGCTTCCATTCCTATTCCCATGTCAGAACCCCGTCCTGGCTGGGGTGGCCTCTGACCCTCCCCAGGAAGTCCTGAGCTGGAGAGAGGGATGTTGGAGGCTTCATGTTTCTCCTCAAAGGAGGCAGTGATTCAGTCAGAGCCCTGCTCCTGGAGGCCTCATCTTGCCCCGTGCCCAGGTAGAGCATGAGGTAGCATGAGGCATCTTGAATGTTTGCACCTTTTGAGGCACAAAGCCTGTTGGTAATCCTTGTCTATCTGGCTCCCAGGTGACCCTCTGTGAGGCAGGCAGGCAGGCAGCGCTCAGGAGCTGGAGAGGGGTGGGAAGGGCTGAGAGGGAGTCTGCTCTCTCACTGAAGCCTCTGGCACTGCCATTTCTTCATCACTGAATGGGAAACTATAATACCTGTCCTCTGTCCTTCATGTGGTTGTGAAGATGAAGTAAAACAGTCATGATTGTACTTATCCGAGCATTAACTATATACCAAACATGGGCTCTTGCCTTCATGTACCTTCCCGGCTATCCTATGAAGGGGCTAGCATTCTACTCCAGTCTAACAAATGGGGAAACTGAGGCTTAGAGACACGGTTAAGCAGCAAGTGCCAGATCTCAGGCCACAGAGTGACAGCTGAGGTCCCAACTCAAGCCTATCTGTCTGATTCTACGTTAAAGTTCTGTAAGATGCTAGTCATTTTTATACATGAGCCCACTGAGGCCGAGAGAATCAAGGTCATGCTAAACTCCAGGTCTCCTGACTCTGTGCAGTTCTCTTTGTAGTGGGCTCTGCAGGTGGAGGTAGAAGGGCCCGAACGTGTTCCTGGAATGGGGCTCCCACCCCCTGCCCCAGGGAGCTCCCAGGCTATCACTGACTTGTGTCTCATGCGTCCTCACAGGGGGACAGTGCCTGAACCGAGGTCCAAGCCGCATGTGCCGCTGCCGTCCTGGATTCACGGGCACCTACTGTGAACTCCACGTCAGCGACTGTGCCCGTAACCCTTGCGCCCACGGTGGCACTTGCCATGACCTGGAGAATGGGCTCATGTGCACCTGCCCTGCCGGCTTCTCTGGCCGACGCTGTGAGGTGCGGACATCCATCGATGCCTGTGCCTCGAGTCCCTGCTTCAACAGGGCCACCTGCTACACCGACCTCTCCACAGACACCTTTGTGTGCAACTGCCCTTATGGCTTTGTGGGCAGCCGCTGCGAGTTCCCCGTGGGCTTGCCGCCCAGCTTCCCCTGGGTGGCCGTCTCGCTGGGTGTGGGGCTGGCAGTGCTGCTGGTACTGCTGGGCATGGTGGCAGTGGCTGTGCGGCAGCTGCGGCTTCGACGGCCGGACGACGGCAGCAGGGAAGCCATGAACAACTTGTCGGACTTCCAGAAGGACAACCTGATTCCTGCCGCCCAGCTTAAAAACACAAACCAGAAGAAGGAGCTGGAAGTGGACTGTGGCCTGGACAAGTCCAACTGTGGCAAACAGCAAAACCACACATTGGACTATAATCTGGCCCCAGGGCCCCTGGGGCGGGGGACCATGCCAGGAAAGTTTCCCCACAGTGACAAGAGCTTAGGAGAGAAGGCGCCACTGCGGTTACACAGGTGAGTGGCACCCAGAAGCCCAGGGCCTGGCCACCGGCCCCGACATGGTTCTGCCTAGGCTCCTCTTAGGCCAGGCGGGAAGCAGTTAAGCAGCTGAGGTTTTGTTACTGACAGGAAGATCCTCCAGTAGGATTTCTGTCAGGGGTCCTTTGTCCTTCCCTC
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Task1_train_20541
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Given this variant in gene DLL4 (delta like canonical Notch ligand 4) on Chromosome 15, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Adams-Oliver syndrome
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CTCTACCTGGTGTTTAGGGGTAGTCACTCTCTGGCTATACAGGGGCCTTTCAGCCCCAACCTTGGGGGAGGAGGAAGCCTTTTTTCTTGCATCCTGCTAGCCAGCTGCAGCCAGCTGCAGCTCCCATTTTCAGGATCAAATGGGTGCACCTGCTGCCCAGAGACACCGGCGCAGGCCTGGGTAGGGTGGGCAGAGAGCTTGCCAGGGTGGAAAGAAATTGCCTAGGCCCTGACTTGCTGTCAACAAGGGGCTTGGGATTCAGTCCCTGTGTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTCCCTTTACTACCATCCCCACCCCAACACTCACACACCTGGTTCCTGCTCATTCTCTTCCCTCTCCACCATATTTGCTCCCAGGTGACACAGTCATATACTCATCATATGCAAACACAGCACTTGCAGGCCATATATTTACTCTGTCTGGTTCTCCCTCCCTGTCCTTCCCAAATAAAAAAACAAATACTTATATTTCAAAATACCCTTGTAACACCTCTTCCTTTAAAAAATGCCCGATTACTGCCTATGGTGGCTCTCATCTCTCCTCTACCATTTCTACCTGTTGAAATTTTATCCCTCCTTCCAGGCTTATCTCAGCTGCCCCTCCTCCATGAAGCCTTTTCTGACTTCCTCCCCGACATGTGGCCTTGCCCTCTGCTCTTCTTCCTTATCTTCATCCTACTTGGGTTGGCAGTTTGTGAGTTTCCCTGGCAGGACGTCTTCCAGTTCCAGTTGTGTTGTTTCACTTTTGGTTGACTGCACTGGTCATATGTGATTCAAGGTGCTTTAAGAAACATGATTTTCATCCTGGCTAACACAGTGAAACCCTGTCTGTATTAAAAATACAAAAGTTAGCCAGGTGTGGTGGCAGGCACCTGTAGCCCCAGCTGCTGGGAAGGCTGAGGCAGGAGAATGGCGAAGTAGAGCTTGCAGTGAGCCGAGGTCGTGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAAACATGATTTTAGGCTGGGTGCGATGGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTAGGTGGATCACTTGAAGTCAGGAGTTCGAGACCATCCTGGCCATCCTGGTGAAACCCCTGTAAAAATACAAATATTAATCGGGCACAGTGGCGCATGCCTGTAATCCCAGCTACTTAGAAGGTTGAGGTATGAGAATCGCTTGAACCCGGAAGGCGAAGGTTGTAGTGAGCCTATATCACATCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGTTAAAAAAAAAAAAAAAAGAAGGAAAGAAAGAGAAAGAGAGAGAAAGAAAGAAAGAAAGAGAAAGAAAAAAGATTTTATTGGTGGTGGAGGAAGGATGTTTGGGCCTGGGAGACTTTGAGTTGAGGTGTCTTTGAGCCAAACATGGGGGCAAACATGGACTGCAAGGAGCCTGGAGGTGAGTGCATTCCCTGGCCCTGCTCAGCTGCTTGGTTCCTGTTTCTGCAGATCTCAACTACTGCACCCACCACTCCCCATGCAAGAATGGGGCAACGTGCTCCAACAGTGGGCAGCGAAGCTACACCTGCACCTGTCGCCCAGGCTACACTGGTGTGGACTGTGAGCTGGAGCTCAGCGAGTGTGACAGCAACCCCTGTCGCAATGGAGGCAGCTGTAAGGTGAGGCCCAGACCAGCGCAGGAAGACAGAGGTGTCAGGTGGTGTCTGGGCATCCCTAACCTAGGCAGTTAGTGGATGTACAGCCATGGACAGGCATTGTGGGCAGGTGGAGCCCAGCCTTCAGTCACACATCCCTGCCCCCCAGGGTCTGACTTTGGCCCCTTTATGGTCTCTCTCCAGGACCAGGAGGATGGCTACCACTGCCTGTGTCCTCCGGGCTACTATGGCCTGCATTGTGAACACAGCACCTTGAGCTGCGCCGACTCCCCCTGCTTCAATGGGGGCTCCTGCCGGGAGCGCAACCAGGGGGCCAACTATGCTTGTGAATGTCCCCCCAACTTCACCGGCTCCAACTGCGAGAAGAAAGTGGACAGGTGCACCAGCAACCCCTGTGCCAACGGTGCGTGCTGCTGCCCTGCTAACCTGGTGGACTGGCCCTGGGGCTGAGAGAGACTTCTGGTGAGGGAGGGTCAGGAGAGGAGCGAGGCATTGTCTGCCACTCTGGCCCCCCATCTGCTCTGGAGGGCGAAGAGCTTGCTTGATCAGCTGGGGGGCTGTGGAAGCGGAGCTGGTTAGTTGCACGCAGGCCTTAGGAGCAGGGGTGGTATGCACCCTGCATAGCTTCCATTCCTATTCCCATGTCAGAACCCCGTCCTGGCTGGGGTGGCCTCTGACCCTCCCCAGGAAGTCCTGAGCTGGAGAGAGGGATGTTGGAGGCTTCATGTTTCTCCTCAAAGGAGGCAGTGATTCAGTCAGAGCCCTGCTCCTGGAGGCCTCATCTTGCCCCGTGCCCAGGTAGAGCATGAGGTAGCATGAGGCATCTTGAATGTTTGCACCTTTTGAGGCACAAAGCCTGTTGGTAATCCTTGTCTATCTGGCTCCCAGGTGACCCTCTGTGAGGCAGGCAGGCAGGCAGCGCTCAGGAGCTGGAGAGGGGTGGGAAGGGCTGAGAGGGAGTCTGCTCTCTCACTGAAGCCTCTGGCACTGCCATTTCTTCATCACTGAATGGGAAACTATAATACCTGTCCTCTGTCCTTCATGTGGTTGTGAAGATGAAGTAAAACAGTCATGATTGTACTTATCCGAGCATTAACTATATACCAAACATGGGCTCTTGCCTTCATGTACCTTCCCGGCTATCCTATGAAGGGGCTAGCATTCTACTCCAGTCTAACAAATGGGGAAACTGAGGCTTAGAGACACGGTTAAGCAGCAAGTGCCAGATCTCAGGCCACAGAGTGACAGCTGAGGTCCCAACTCAAGCCTATCTGTCTGATTCTACGTTAAAGTTCTGTAAGATGCTAGTCATTTTTATACATGAGCCCACTGAGGCCGAGAGAATCAAGGTCATGCTAAACTCCAGGTCTCCTGACTCTGTGCAGTTCTCTTTGTAGTGGGCTCTGCAGGTGGAGGTAGAAGGGCCCGAACGTGTTCCTGGAATGGGGCTCCCACCCCCTGCCCCAGGGAGCTCCCAGGCTATCACTGACTTGTGTCTCATGCGTCCTCACAGGGGGACAGTGCCTGAACCGAGGTCCAAGCCGCATGTGCCGCTGCCGTCCTGGATTCACGGGCACCTACTGTGAACTCCACGTCAGCGACTGTGCCCGTAACCCTTGCGCCCACGGTGGCACTTGCCATGACCTGGAGAATGGGCTCATGTGCACCTGCCCTGCCGGCTTCTCTGGCCGACGCTGTGAGGTGCGGACATCCATCGATGCCTGTGCCTCGAGTCCCTGCTTCAACAGGGCCACCTGCTACACCGACCTCTCCACAGACACCTTTGTGTGCAACTGCCCTTATGGCTTTGTGGGCAGCCGCTGCGAGTTCCCCGTGGGCTTGCCGCCCAGCTTCCCCTGGGTGGCCGTCTCGCTGGGTGTGGGGCTGGCAGTGCTGCTGGTACTGCTGGGCATGGTGGCAGTGGCTGTGCGGCAGCTGCGGCTTCGACGGCCGGACGACGGCAGCAGGGAAGCCATGAACAACTTGTCGGACTTCCAGAAGGACAACCTGATTCCTGCCGCCCAGCTTAAAAACACAAACCAGAAGAAGGAGCTGGAAGTGGACTGTGGCCTGGACAAGTCCAACTGTGGCAAACAGCAAAACCACACATTGGACTATAATCTGGCCCCAGGGCCCCTGGGGCGGGGGACCATGCCAGGAAAGTTTCCCCACAGTGACAAGAGCTTAGGAGAGAAGGCGCCACTGCGGTTACACAGGTGAGTGGCACCCAGAAGCCCAGGGCCTGGCCACCGGCCCCGACATGGTTCTGCCTAGGCTCCTCTTAGGCCAGGCGGGAAGCAGTTAAGCAGCTGAGGTTTTGTTACTGACAGGAAGATCCTCCAGTAGGATTTCTGTCAGGGGTCCTTTGTCCTTCCCTCC
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CTCTACCTGGTGTTTAGGGGTAGTCACTCTCTGGCTATACAGGGGCCTTTCAGCCCCAACCTTGGGGGAGGAGGAAGCCTTTTTTCTTGCATCCTGCTAGCCAGCTGCAGCCAGCTGCAGCTCCCATTTTCAGGATCAAATGGGTGCACCTGCTGCCCAGAGACACCGGCGCAGGCCTGGGTAGGGTGGGCAGAGAGCTTGCCAGGGTGGAAAGAAATTGCCTAGGCCCTGACTTGCTGTCAACAAGGGGCTTGGGATTCAGTCCCTGTGTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTCCCTTTACTACCATCCCCACCCCAACACTCACACACCTGGTTCCTGCTCATTCTCTTCCCTCTCCACCATATTTGCTCCCAGGTGACACAGTCATATACTCATCATATGCAAACACAGCACTTGCAGGCCATATATTTACTCTGTCTGGTTCTCCCTCCCTGTCCTTCCCAAATAAAAAAACAAATACTTATATTTCAAAATACCCTTGTAACACCTCTTCCTTTAAAAAATGCCCGATTACTGCCTATGGTGGCTCTCATCTCTCCTCTACCATTTCTACCTGTTGAAATTTTATCCCTCCTTCCAGGCTTATCTCAGCTGCCCCTCCTCCATGAAGCCTTTTCTGACTTCCTCCCCGACATGTGGCCTTGCCCTCTGCTCTTCTTCCTTATCTTCATCCTACTTGGGTTGGCAGTTTGTGAGTTTCCCTGGCAGGACGTCTTCCAGTTCCAGTTGTGTTGTTTCACTTTTGGTTGACTGCACTGGTCATATGTGATTCAAGGTGCTTTAAGAAACATGATTTTCATCCTGGCTAACACAGTGAAACCCTGTCTGTATTAAAAATACAAAAGTTAGCCAGGTGTGGTGGCAGGCACCTGTAGCCCCAGCTGCTGGGAAGGCTGAGGCAGGAGAATGGCGAAGTAGAGCTTGCAGTGAGCCGAGGTCGTGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAAACATGATTTTAGGCTGGGTGCGATGGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTAGGTGGATCACTTGAAGTCAGGAGTTCGAGACCATCCTGGCCATCCTGGTGAAACCCCTGTAAAAATACAAATATTAATCGGGCACAGTGGCGCATGCCTGTAATCCCAGCTACTTAGAAGGTTGAGGTATGAGAATCGCTTGAACCCGGAAGGCGAAGGTTGTAGTGAGCCTATATCACATCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGTTAAAAAAAAAAAAAAAAGAAGGAAAGAAAGAGAAAGAGAGAGAAAGAAAGAAAGAAAGAGAAAGAAAAAAGATTTTATTGGTGGTGGAGGAAGGATGTTTGGGCCTGGGAGACTTTGAGTTGAGGTGTCTTTGAGCCAAACATGGGGGCAAACATGGACTGCAAGGAGCCTGGAGGTGAGTGCATTCCCTGGCCCTGCTCAGCTGCTTGGTTCCTGTTTCTGCAGATCTCAACTACTGCACCCACCACTCCCCATGCAAGAATGGGGCAACGTGCTCCAACAGTGGGCAGCGAAGCTACACCTGCACCTGTCGCCCAGGCTACACTGGTGTGGACTGTGAGCTGGAGCTCAGCGAGTGTGACAGCAACCCCTGTCGCAATGGAGGCAGCTGTAAGGTGAGGCCCAGACCAGCGCAGGAAGACAGAGGTGTCAGGTGGTGTCTGGGCATCCCTAACCTAGGCAGTTAGTGGATGTACAGCCATGGACAGGCATTGTGGGCAGGTGGAGCCCAGCCTTCAGTCACACATCCCTGCCCCCCAGGGTCTGACTTTGGCCCCTTTATGGTCTCTCTCCAGGACCAGGAGGATGGCTACCACTGCCTGTGTCCTCCGGGCTACTATGGCCTGCATTGTGAACACAGCACCTTGAGCTGCGCCGACTCCCCCTGCTTCAATGGGGGCTCCTGCCGGGAGCGCAACCAGGGGGCCAACTATGCTTGTGAATATCCCCCCAACTTCACCGGCTCCAACTGCGAGAAGAAAGTGGACAGGTGCACCAGCAACCCCTGTGCCAACGGTGCGTGCTGCTGCCCTGCTAACCTGGTGGACTGGCCCTGGGGCTGAGAGAGACTTCTGGTGAGGGAGGGTCAGGAGAGGAGCGAGGCATTGTCTGCCACTCTGGCCCCCCATCTGCTCTGGAGGGCGAAGAGCTTGCTTGATCAGCTGGGGGGCTGTGGAAGCGGAGCTGGTTAGTTGCACGCAGGCCTTAGGAGCAGGGGTGGTATGCACCCTGCATAGCTTCCATTCCTATTCCCATGTCAGAACCCCGTCCTGGCTGGGGTGGCCTCTGACCCTCCCCAGGAAGTCCTGAGCTGGAGAGAGGGATGTTGGAGGCTTCATGTTTCTCCTCAAAGGAGGCAGTGATTCAGTCAGAGCCCTGCTCCTGGAGGCCTCATCTTGCCCCGTGCCCAGGTAGAGCATGAGGTAGCATGAGGCATCTTGAATGTTTGCACCTTTTGAGGCACAAAGCCTGTTGGTAATCCTTGTCTATCTGGCTCCCAGGTGACCCTCTGTGAGGCAGGCAGGCAGGCAGCGCTCAGGAGCTGGAGAGGGGTGGGAAGGGCTGAGAGGGAGTCTGCTCTCTCACTGAAGCCTCTGGCACTGCCATTTCTTCATCACTGAATGGGAAACTATAATACCTGTCCTCTGTCCTTCATGTGGTTGTGAAGATGAAGTAAAACAGTCATGATTGTACTTATCCGAGCATTAACTATATACCAAACATGGGCTCTTGCCTTCATGTACCTTCCCGGCTATCCTATGAAGGGGCTAGCATTCTACTCCAGTCTAACAAATGGGGAAACTGAGGCTTAGAGACACGGTTAAGCAGCAAGTGCCAGATCTCAGGCCACAGAGTGACAGCTGAGGTCCCAACTCAAGCCTATCTGTCTGATTCTACGTTAAAGTTCTGTAAGATGCTAGTCATTTTTATACATGAGCCCACTGAGGCCGAGAGAATCAAGGTCATGCTAAACTCCAGGTCTCCTGACTCTGTGCAGTTCTCTTTGTAGTGGGCTCTGCAGGTGGAGGTAGAAGGGCCCGAACGTGTTCCTGGAATGGGGCTCCCACCCCCTGCCCCAGGGAGCTCCCAGGCTATCACTGACTTGTGTCTCATGCGTCCTCACAGGGGGACAGTGCCTGAACCGAGGTCCAAGCCGCATGTGCCGCTGCCGTCCTGGATTCACGGGCACCTACTGTGAACTCCACGTCAGCGACTGTGCCCGTAACCCTTGCGCCCACGGTGGCACTTGCCATGACCTGGAGAATGGGCTCATGTGCACCTGCCCTGCCGGCTTCTCTGGCCGACGCTGTGAGGTGCGGACATCCATCGATGCCTGTGCCTCGAGTCCCTGCTTCAACAGGGCCACCTGCTACACCGACCTCTCCACAGACACCTTTGTGTGCAACTGCCCTTATGGCTTTGTGGGCAGCCGCTGCGAGTTCCCCGTGGGCTTGCCGCCCAGCTTCCCCTGGGTGGCCGTCTCGCTGGGTGTGGGGCTGGCAGTGCTGCTGGTACTGCTGGGCATGGTGGCAGTGGCTGTGCGGCAGCTGCGGCTTCGACGGCCGGACGACGGCAGCAGGGAAGCCATGAACAACTTGTCGGACTTCCAGAAGGACAACCTGATTCCTGCCGCCCAGCTTAAAAACACAAACCAGAAGAAGGAGCTGGAAGTGGACTGTGGCCTGGACAAGTCCAACTGTGGCAAACAGCAAAACCACACATTGGACTATAATCTGGCCCCAGGGCCCCTGGGGCGGGGGACCATGCCAGGAAAGTTTCCCCACAGTGACAAGAGCTTAGGAGAGAAGGCGCCACTGCGGTTACACAGGTGAGTGGCACCCAGAAGCCCAGGGCCTGGCCACCGGCCCCGACATGGTTCTGCCTAGGCTCCTCTTAGGCCAGGCGGGAAGCAGTTAAGCAGCTGAGGTTTTGTTACTGACAGGAAGATCCTCCAGTAGGATTTCTGTCAGGGGTCCTTTGTCCTTCCCTCC
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Task1_train_20542
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Gene DLL4 (delta like canonical Notch ligand 4), found on Chromosome 15, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; not provided
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AGGAAGCCTTTTTTCTTGCATCCTGCTAGCCAGCTGCAGCCAGCTGCAGCTCCCATTTTCAGGATCAAATGGGTGCACCTGCTGCCCAGAGACACCGGCGCAGGCCTGGGTAGGGTGGGCAGAGAGCTTGCCAGGGTGGAAAGAAATTGCCTAGGCCCTGACTTGCTGTCAACAAGGGGCTTGGGATTCAGTCCCTGTGTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTCCCTTTACTACCATCCCCACCCCAACACTCACACACCTGGTTCCTGCTCATTCTCTTCCCTCTCCACCATATTTGCTCCCAGGTGACACAGTCATATACTCATCATATGCAAACACAGCACTTGCAGGCCATATATTTACTCTGTCTGGTTCTCCCTCCCTGTCCTTCCCAAATAAAAAAACAAATACTTATATTTCAAAATACCCTTGTAACACCTCTTCCTTTAAAAAATGCCCGATTACTGCCTATGGTGGCTCTCATCTCTCCTCTACCATTTCTACCTGTTGAAATTTTATCCCTCCTTCCAGGCTTATCTCAGCTGCCCCTCCTCCATGAAGCCTTTTCTGACTTCCTCCCCGACATGTGGCCTTGCCCTCTGCTCTTCTTCCTTATCTTCATCCTACTTGGGTTGGCAGTTTGTGAGTTTCCCTGGCAGGACGTCTTCCAGTTCCAGTTGTGTTGTTTCACTTTTGGTTGACTGCACTGGTCATATGTGATTCAAGGTGCTTTAAGAAACATGATTTTCATCCTGGCTAACACAGTGAAACCCTGTCTGTATTAAAAATACAAAAGTTAGCCAGGTGTGGTGGCAGGCACCTGTAGCCCCAGCTGCTGGGAAGGCTGAGGCAGGAGAATGGCGAAGTAGAGCTTGCAGTGAGCCGAGGTCGTGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAAACATGATTTTAGGCTGGGTGCGATGGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTAGGTGGATCACTTGAAGTCAGGAGTTCGAGACCATCCTGGCCATCCTGGTGAAACCCCTGTAAAAATACAAATATTAATCGGGCACAGTGGCGCATGCCTGTAATCCCAGCTACTTAGAAGGTTGAGGTATGAGAATCGCTTGAACCCGGAAGGCGAAGGTTGTAGTGAGCCTATATCACATCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGTTAAAAAAAAAAAAAAAAGAAGGAAAGAAAGAGAAAGAGAGAGAAAGAAAGAAAGAAAGAGAAAGAAAAAAGATTTTATTGGTGGTGGAGGAAGGATGTTTGGGCCTGGGAGACTTTGAGTTGAGGTGTCTTTGAGCCAAACATGGGGGCAAACATGGACTGCAAGGAGCCTGGAGGTGAGTGCATTCCCTGGCCCTGCTCAGCTGCTTGGTTCCTGTTTCTGCAGATCTCAACTACTGCACCCACCACTCCCCATGCAAGAATGGGGCAACGTGCTCCAACAGTGGGCAGCGAAGCTACACCTGCACCTGTCGCCCAGGCTACACTGGTGTGGACTGTGAGCTGGAGCTCAGCGAGTGTGACAGCAACCCCTGTCGCAATGGAGGCAGCTGTAAGGTGAGGCCCAGACCAGCGCAGGAAGACAGAGGTGTCAGGTGGTGTCTGGGCATCCCTAACCTAGGCAGTTAGTGGATGTACAGCCATGGACAGGCATTGTGGGCAGGTGGAGCCCAGCCTTCAGTCACACATCCCTGCCCCCCAGGGTCTGACTTTGGCCCCTTTATGGTCTCTCTCCAGGACCAGGAGGATGGCTACCACTGCCTGTGTCCTCCGGGCTACTATGGCCTGCATTGTGAACACAGCACCTTGAGCTGCGCCGACTCCCCCTGCTTCAATGGGGGCTCCTGCCGGGAGCGCAACCAGGGGGCCAACTATGCTTGTGAATGTCCCCCCAACTTCACCGGCTCCAACTGCGAGAAGAAAGTGGACAGGTGCACCAGCAACCCCTGTGCCAACGGTGCGTGCTGCTGCCCTGCTAACCTGGTGGACTGGCCCTGGGGCTGAGAGAGACTTCTGGTGAGGGAGGGTCAGGAGAGGAGCGAGGCATTGTCTGCCACTCTGGCCCCCCATCTGCTCTGGAGGGCGAAGAGCTTGCTTGATCAGCTGGGGGGCTGTGGAAGCGGAGCTGGTTAGTTGCACGCAGGCCTTAGGAGCAGGGGTGGTATGCACCCTGCATAGCTTCCATTCCTATTCCCATGTCAGAACCCCGTCCTGGCTGGGGTGGCCTCTGACCCTCCCCAGGAAGTCCTGAGCTGGAGAGAGGGATGTTGGAGGCTTCATGTTTCTCCTCAAAGGAGGCAGTGATTCAGTCAGAGCCCTGCTCCTGGAGGCCTCATCTTGCCCCGTGCCCAGGTAGAGCATGAGGTAGCATGAGGCATCTTGAATGTTTGCACCTTTTGAGGCACAAAGCCTGTTGGTAATCCTTGTCTATCTGGCTCCCAGGTGACCCTCTGTGAGGCAGGCAGGCAGGCAGCGCTCAGGAGCTGGAGAGGGGTGGGAAGGGCTGAGAGGGAGTCTGCTCTCTCACTGAAGCCTCTGGCACTGCCATTTCTTCATCACTGAATGGGAAACTATAATACCTGTCCTCTGTCCTTCATGTGGTTGTGAAGATGAAGTAAAACAGTCATGATTGTACTTATCCGAGCATTAACTATATACCAAACATGGGCTCTTGCCTTCATGTACCTTCCCGGCTATCCTATGAAGGGGCTAGCATTCTACTCCAGTCTAACAAATGGGGAAACTGAGGCTTAGAGACACGGTTAAGCAGCAAGTGCCAGATCTCAGGCCACAGAGTGACAGCTGAGGTCCCAACTCAAGCCTATCTGTCTGATTCTACGTTAAAGTTCTGTAAGATGCTAGTCATTTTTATACATGAGCCCACTGAGGCCGAGAGAATCAAGGTCATGCTAAACTCCAGGTCTCCTGACTCTGTGCAGTTCTCTTTGTAGTGGGCTCTGCAGGTGGAGGTAGAAGGGCCCGAACGTGTTCCTGGAATGGGGCTCCCACCCCCTGCCCCAGGGAGCTCCCAGGCTATCACTGACTTGTGTCTCATGCGTCCTCACAGGGGGACAGTGCCTGAACCGAGGTCCAAGCCGCATGTGCCGCTGCCGTCCTGGATTCACGGGCACCTACTGTGAACTCCACGTCAGCGACTGTGCCCGTAACCCTTGCGCCCACGGTGGCACTTGCCATGACCTGGAGAATGGGCTCATGTGCACCTGCCCTGCCGGCTTCTCTGGCCGACGCTGTGAGGTGCGGACATCCATCGATGCCTGTGCCTCGAGTCCCTGCTTCAACAGGGCCACCTGCTACACCGACCTCTCCACAGACACCTTTGTGTGCAACTGCCCTTATGGCTTTGTGGGCAGCCGCTGCGAGTTCCCCGTGGGCTTGCCGCCCAGCTTCCCCTGGGTGGCCGTCTCGCTGGGTGTGGGGCTGGCAGTGCTGCTGGTACTGCTGGGCATGGTGGCAGTGGCTGTGCGGCAGCTGCGGCTTCGACGGCCGGACGACGGCAGCAGGGAAGCCATGAACAACTTGTCGGACTTCCAGAAGGACAACCTGATTCCTGCCGCCCAGCTTAAAAACACAAACCAGAAGAAGGAGCTGGAAGTGGACTGTGGCCTGGACAAGTCCAACTGTGGCAAACAGCAAAACCACACATTGGACTATAATCTGGCCCCAGGGCCCCTGGGGCGGGGGACCATGCCAGGAAAGTTTCCCCACAGTGACAAGAGCTTAGGAGAGAAGGCGCCACTGCGGTTACACAGGTGAGTGGCACCCAGAAGCCCAGGGCCTGGCCACCGGCCCCGACATGGTTCTGCCTAGGCTCCTCTTAGGCCAGGCGGGAAGCAGTTAAGCAGCTGAGGTTTTGTTACTGACAGGAAGATCCTCCAGTAGGATTTCTGTCAGGGGTCCTTTGTCCTTCCCTCCCATTCATTCATTTGTTCATTCACACATGTCAAGTGTCCCTAGGGTGTCTCTTGTGACTTCCGTCTTTCCAC
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AGGAAGCCTTTTTTCTTGCATCCTGCTAGCCAGCTGCAGCCAGCTGCAGCTCCCATTTTCAGGATCAAATGGGTGCACCTGCTGCCCAGAGACACCGGCGCAGGCCTGGGTAGGGTGGGCAGAGAGCTTGCCAGGGTGGAAAGAAATTGCCTAGGCCCTGACTTGCTGTCAACAAGGGGCTTGGGATTCAGTCCCTGTGTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTCCCTTTACTACCATCCCCACCCCAACACTCACACACCTGGTTCCTGCTCATTCTCTTCCCTCTCCACCATATTTGCTCCCAGGTGACACAGTCATATACTCATCATATGCAAACACAGCACTTGCAGGCCATATATTTACTCTGTCTGGTTCTCCCTCCCTGTCCTTCCCAAATAAAAAAACAAATACTTATATTTCAAAATACCCTTGTAACACCTCTTCCTTTAAAAAATGCCCGATTACTGCCTATGGTGGCTCTCATCTCTCCTCTACCATTTCTACCTGTTGAAATTTTATCCCTCCTTCCAGGCTTATCTCAGCTGCCCCTCCTCCATGAAGCCTTTTCTGACTTCCTCCCCGACATGTGGCCTTGCCCTCTGCTCTTCTTCCTTATCTTCATCCTACTTGGGTTGGCAGTTTGTGAGTTTCCCTGGCAGGACGTCTTCCAGTTCCAGTTGTGTTGTTTCACTTTTGGTTGACTGCACTGGTCATATGTGATTCAAGGTGCTTTAAGAAACATGATTTTCATCCTGGCTAACACAGTGAAACCCTGTCTGTATTAAAAATACAAAAGTTAGCCAGGTGTGGTGGCAGGCACCTGTAGCCCCAGCTGCTGGGAAGGCTGAGGCAGGAGAATGGCGAAGTAGAGCTTGCAGTGAGCCGAGGTCGTGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAAACATGATTTTAGGCTGGGTGCGATGGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTAGGTGGATCACTTGAAGTCAGGAGTTCGAGACCATCCTGGCCATCCTGGTGAAACCCCTGTAAAAATACAAATATTAATCGGGCACAGTGGCGCATGCCTGTAATCCCAGCTACTTAGAAGGTTGAGGTATGAGAATCGCTTGAACCCGGAAGGCGAAGGTTGTAGTGAGCCTATATCACATCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGTTAAAAAAAAAAAAAAAAGAAGGAAAGAAAGAGAAAGAGAGAGAAAGAAAGAAAGAAAGAGAAAGAAAAAAGATTTTATTGGTGGTGGAGGAAGGATGTTTGGGCCTGGGAGACTTTGAGTTGAGGTGTCTTTGAGCCAAACATGGGGGCAAACATGGACTGCAAGGAGCCTGGAGGTGAGTGCATTCCCTGGCCCTGCTCAGCTGCTTGGTTCCTGTTTCTGCAGATCTCAACTACTGCACCCACCACTCCCCATGCAAGAATGGGGCAACGTGCTCCAACAGTGGGCAGCGAAGCTACACCTGCACCTGTCGCCCAGGCTACACTGGTGTGGACTGTGAGCTGGAGCTCAGCGAGTGTGACAGCAACCCCTGTCGCAATGGAGGCAGCTGTAAGGTGAGGCCCAGACCAGCGCAGGAAGACAGAGGTGTCAGGTGGTGTCTGGGCATCCCTAACCTAGGCAGTTAGTGGATGTACAGCCATGGACAGGCATTGTGGGCAGGTGGAGCCCAGCCTTCAGTCACACATCCCTGCCCCCCAGGGTCTGACTTTGGCCCCTTTATGGTCTCTCTCCAGGACCAGGAGGATGGCTACCACTGCCTGTGTCCTCCGGGCTACTATGGCCTGCATTGTGAACACAGCACCTTGAGCTGCGCCGACTCCCCCTGCTTCAATGGGGGCTCCTGCCGGGAGCGCAACCAGGGGGCCAACTATGCTTGTGAATGTCCCCCCAACTTCACCGGCTCCAACTGCGAGAAGAAAGTGGACAGGTGCACCAGCAACCCCTGTGCCAACAGTGCGTGCTGCTGCCCTGCTAACCTGGTGGACTGGCCCTGGGGCTGAGAGAGACTTCTGGTGAGGGAGGGTCAGGAGAGGAGCGAGGCATTGTCTGCCACTCTGGCCCCCCATCTGCTCTGGAGGGCGAAGAGCTTGCTTGATCAGCTGGGGGGCTGTGGAAGCGGAGCTGGTTAGTTGCACGCAGGCCTTAGGAGCAGGGGTGGTATGCACCCTGCATAGCTTCCATTCCTATTCCCATGTCAGAACCCCGTCCTGGCTGGGGTGGCCTCTGACCCTCCCCAGGAAGTCCTGAGCTGGAGAGAGGGATGTTGGAGGCTTCATGTTTCTCCTCAAAGGAGGCAGTGATTCAGTCAGAGCCCTGCTCCTGGAGGCCTCATCTTGCCCCGTGCCCAGGTAGAGCATGAGGTAGCATGAGGCATCTTGAATGTTTGCACCTTTTGAGGCACAAAGCCTGTTGGTAATCCTTGTCTATCTGGCTCCCAGGTGACCCTCTGTGAGGCAGGCAGGCAGGCAGCGCTCAGGAGCTGGAGAGGGGTGGGAAGGGCTGAGAGGGAGTCTGCTCTCTCACTGAAGCCTCTGGCACTGCCATTTCTTCATCACTGAATGGGAAACTATAATACCTGTCCTCTGTCCTTCATGTGGTTGTGAAGATGAAGTAAAACAGTCATGATTGTACTTATCCGAGCATTAACTATATACCAAACATGGGCTCTTGCCTTCATGTACCTTCCCGGCTATCCTATGAAGGGGCTAGCATTCTACTCCAGTCTAACAAATGGGGAAACTGAGGCTTAGAGACACGGTTAAGCAGCAAGTGCCAGATCTCAGGCCACAGAGTGACAGCTGAGGTCCCAACTCAAGCCTATCTGTCTGATTCTACGTTAAAGTTCTGTAAGATGCTAGTCATTTTTATACATGAGCCCACTGAGGCCGAGAGAATCAAGGTCATGCTAAACTCCAGGTCTCCTGACTCTGTGCAGTTCTCTTTGTAGTGGGCTCTGCAGGTGGAGGTAGAAGGGCCCGAACGTGTTCCTGGAATGGGGCTCCCACCCCCTGCCCCAGGGAGCTCCCAGGCTATCACTGACTTGTGTCTCATGCGTCCTCACAGGGGGACAGTGCCTGAACCGAGGTCCAAGCCGCATGTGCCGCTGCCGTCCTGGATTCACGGGCACCTACTGTGAACTCCACGTCAGCGACTGTGCCCGTAACCCTTGCGCCCACGGTGGCACTTGCCATGACCTGGAGAATGGGCTCATGTGCACCTGCCCTGCCGGCTTCTCTGGCCGACGCTGTGAGGTGCGGACATCCATCGATGCCTGTGCCTCGAGTCCCTGCTTCAACAGGGCCACCTGCTACACCGACCTCTCCACAGACACCTTTGTGTGCAACTGCCCTTATGGCTTTGTGGGCAGCCGCTGCGAGTTCCCCGTGGGCTTGCCGCCCAGCTTCCCCTGGGTGGCCGTCTCGCTGGGTGTGGGGCTGGCAGTGCTGCTGGTACTGCTGGGCATGGTGGCAGTGGCTGTGCGGCAGCTGCGGCTTCGACGGCCGGACGACGGCAGCAGGGAAGCCATGAACAACTTGTCGGACTTCCAGAAGGACAACCTGATTCCTGCCGCCCAGCTTAAAAACACAAACCAGAAGAAGGAGCTGGAAGTGGACTGTGGCCTGGACAAGTCCAACTGTGGCAAACAGCAAAACCACACATTGGACTATAATCTGGCCCCAGGGCCCCTGGGGCGGGGGACCATGCCAGGAAAGTTTCCCCACAGTGACAAGAGCTTAGGAGAGAAGGCGCCACTGCGGTTACACAGGTGAGTGGCACCCAGAAGCCCAGGGCCTGGCCACCGGCCCCGACATGGTTCTGCCTAGGCTCCTCTTAGGCCAGGCGGGAAGCAGTTAAGCAGCTGAGGTTTTGTTACTGACAGGAAGATCCTCCAGTAGGATTTCTGTCAGGGGTCCTTTGTCCTTCCCTCCCATTCATTCATTTGTTCATTCACACATGTCAAGTGTCCCTAGGGTGTCTCTTGTGACTTCCGTCTTTCCAC
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Task1_train_20543
|
This alteration in DLL4 (delta like canonical Notch ligand 4) on Chromosome 15 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Adams-Oliver syndrome 6
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CCGGAAGGCGAAGGTTGTAGTGAGCCTATATCACATCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGTTAAAAAAAAAAAAAAAAGAAGGAAAGAAAGAGAAAGAGAGAGAAAGAAAGAAAGAAAGAGAAAGAAAAAAGATTTTATTGGTGGTGGAGGAAGGATGTTTGGGCCTGGGAGACTTTGAGTTGAGGTGTCTTTGAGCCAAACATGGGGGCAAACATGGACTGCAAGGAGCCTGGAGGTGAGTGCATTCCCTGGCCCTGCTCAGCTGCTTGGTTCCTGTTTCTGCAGATCTCAACTACTGCACCCACCACTCCCCATGCAAGAATGGGGCAACGTGCTCCAACAGTGGGCAGCGAAGCTACACCTGCACCTGTCGCCCAGGCTACACTGGTGTGGACTGTGAGCTGGAGCTCAGCGAGTGTGACAGCAACCCCTGTCGCAATGGAGGCAGCTGTAAGGTGAGGCCCAGACCAGCGCAGGAAGACAGAGGTGTCAGGTGGTGTCTGGGCATCCCTAACCTAGGCAGTTAGTGGATGTACAGCCATGGACAGGCATTGTGGGCAGGTGGAGCCCAGCCTTCAGTCACACATCCCTGCCCCCCAGGGTCTGACTTTGGCCCCTTTATGGTCTCTCTCCAGGACCAGGAGGATGGCTACCACTGCCTGTGTCCTCCGGGCTACTATGGCCTGCATTGTGAACACAGCACCTTGAGCTGCGCCGACTCCCCCTGCTTCAATGGGGGCTCCTGCCGGGAGCGCAACCAGGGGGCCAACTATGCTTGTGAATGTCCCCCCAACTTCACCGGCTCCAACTGCGAGAAGAAAGTGGACAGGTGCACCAGCAACCCCTGTGCCAACGGTGCGTGCTGCTGCCCTGCTAACCTGGTGGACTGGCCCTGGGGCTGAGAGAGACTTCTGGTGAGGGAGGGTCAGGAGAGGAGCGAGGCATTGTCTGCCACTCTGGCCCCCCATCTGCTCTGGAGGGCGAAGAGCTTGCTTGATCAGCTGGGGGGCTGTGGAAGCGGAGCTGGTTAGTTGCACGCAGGCCTTAGGAGCAGGGGTGGTATGCACCCTGCATAGCTTCCATTCCTATTCCCATGTCAGAACCCCGTCCTGGCTGGGGTGGCCTCTGACCCTCCCCAGGAAGTCCTGAGCTGGAGAGAGGGATGTTGGAGGCTTCATGTTTCTCCTCAAAGGAGGCAGTGATTCAGTCAGAGCCCTGCTCCTGGAGGCCTCATCTTGCCCCGTGCCCAGGTAGAGCATGAGGTAGCATGAGGCATCTTGAATGTTTGCACCTTTTGAGGCACAAAGCCTGTTGGTAATCCTTGTCTATCTGGCTCCCAGGTGACCCTCTGTGAGGCAGGCAGGCAGGCAGCGCTCAGGAGCTGGAGAGGGGTGGGAAGGGCTGAGAGGGAGTCTGCTCTCTCACTGAAGCCTCTGGCACTGCCATTTCTTCATCACTGAATGGGAAACTATAATACCTGTCCTCTGTCCTTCATGTGGTTGTGAAGATGAAGTAAAACAGTCATGATTGTACTTATCCGAGCATTAACTATATACCAAACATGGGCTCTTGCCTTCATGTACCTTCCCGGCTATCCTATGAAGGGGCTAGCATTCTACTCCAGTCTAACAAATGGGGAAACTGAGGCTTAGAGACACGGTTAAGCAGCAAGTGCCAGATCTCAGGCCACAGAGTGACAGCTGAGGTCCCAACTCAAGCCTATCTGTCTGATTCTACGTTAAAGTTCTGTAAGATGCTAGTCATTTTTATACATGAGCCCACTGAGGCCGAGAGAATCAAGGTCATGCTAAACTCCAGGTCTCCTGACTCTGTGCAGTTCTCTTTGTAGTGGGCTCTGCAGGTGGAGGTAGAAGGGCCCGAACGTGTTCCTGGAATGGGGCTCCCACCCCCTGCCCCAGGGAGCTCCCAGGCTATCACTGACTTGTGTCTCATGCGTCCTCACAGGGGGACAGTGCCTGAACCGAGGTCCAAGCCGCATGTGCCGCTGCCGTCCTGGATTCACGGGCACCTACTGTGAACTCCACGTCAGCGACTGTGCCCGTAACCCTTGCGCCCACGGTGGCACTTGCCATGACCTGGAGAATGGGCTCATGTGCACCTGCCCTGCCGGCTTCTCTGGCCGACGCTGTGAGGTGCGGACATCCATCGATGCCTGTGCCTCGAGTCCCTGCTTCAACAGGGCCACCTGCTACACCGACCTCTCCACAGACACCTTTGTGTGCAACTGCCCTTATGGCTTTGTGGGCAGCCGCTGCGAGTTCCCCGTGGGCTTGCCGCCCAGCTTCCCCTGGGTGGCCGTCTCGCTGGGTGTGGGGCTGGCAGTGCTGCTGGTACTGCTGGGCATGGTGGCAGTGGCTGTGCGGCAGCTGCGGCTTCGACGGCCGGACGACGGCAGCAGGGAAGCCATGAACAACTTGTCGGACTTCCAGAAGGACAACCTGATTCCTGCCGCCCAGCTTAAAAACACAAACCAGAAGAAGGAGCTGGAAGTGGACTGTGGCCTGGACAAGTCCAACTGTGGCAAACAGCAAAACCACACATTGGACTATAATCTGGCCCCAGGGCCCCTGGGGCGGGGGACCATGCCAGGAAAGTTTCCCCACAGTGACAAGAGCTTAGGAGAGAAGGCGCCACTGCGGTTACACAGGTGAGTGGCACCCAGAAGCCCAGGGCCTGGCCACCGGCCCCGACATGGTTCTGCCTAGGCTCCTCTTAGGCCAGGCGGGAAGCAGTTAAGCAGCTGAGGTTTTGTTACTGACAGGAAGATCCTCCAGTAGGATTTCTGTCAGGGGTCCTTTGTCCTTCCCTCCCATTCATTCATTTGTTCATTCACACATGTCAAGTGTCCCTAGGGTGTCTCTTGTGACTTCCGTCTTTCCACAGTGTGGCTTGCCTCTAGTGGCAGCACTGGCTTTATGCAGGGCTCAGACCCTTCTGGTGAGGTTGGGAGGCCTGTGACTCTCTTAGGGGCCTTTTCCTAAGTGCCCCCCTGCAGCAGCCCAGCACTGGGCACGTCCAGCCCCTGTGTCTTCCCCAAGAACCACCCTGCAGATGCCCTTTGGCTCTCCAGGGTCCTCCCTCCCCCCAAGCCTCTCCCCGTCCCTCCCTTACACGCCTGTCTTGTGTTCCCTCAGTGAAAAGCCAGAGTGTCGGATATCAGCGATATGCTCCCCCAGGGACTCCATGTACCAGTCTGTGTGTTTGATATCAGAGGAGAGGAATGAATGTGTCATTGCCACGGAGGTGAGTGCTGGGCTCGCCTTTCCTTCTGCCTTTTGTGGGAGGGAAAGTGGCCTGGTCACTCTTGACCCATGGGCCATTCCTGAAGGGTAGGTCAGAACCCTGCCTTGGCAGGCCAAGTTCAGTGGACTCTTGGGTCCCTGCTGGCCTCATTGCCACTAAGGGTGTGAAACAGGAACCATGGCGGCAAGCCTGGTCTGGTCCTTTCCTGCTGTATTGGTGCTGGGTTGGGCAGCCACGGCACTGCTGGCCAGCCTCTGATGGGTGAGGGGGCCCCTCACCCCTTGTGCCCTTCCTGCCCCTTCCCACTGGCTTCCTCCATTGACCTCATGAGCGCAAGCTCCCAGGCCCGTGTGTGTGTTGGGCCGAAGACTGGGGAGGACTGCCCCACCTGCCCTTAGCCCCTGCCTGCCCCATCGCCTTCTCCCAGGGAGGCCCAGGGAGGGCCTGGAGGGAGTGCGCATGCCCAGGGTAACCTGTTTCCCTGCCTTCCGCTTGCTCCCAGGTATAAGGCAGGAGCCTACCTGGACATCCCTGCTCAGCCCCGCGGCTGGACCTTCCTTCTGCATTGTTTACATTGCATCCTGGATGGGACGTTTTTCATATGCAACGTGCTGCTCTCAGGAGGAGGAGGGAATGGCAGGAACCGGACAGACTGTGAACTTGCCAAGAGATGCAATACCCTTCCACACCTTTGGGTGTCTGTCTGGCATCAGATTGGCAGCTGCACCAACCAGAGGAACAGAAGAGAAGAGAGATGCCACTGGGCACTGCCCTGCCAGTAGTGGCCTTCAGGGGGCTCCTTCCGGGGCTCCGGCCTG
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CCGGAAGGCGAAGGTTGTAGTGAGCCTATATCACATCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGTTAAAAAAAAAAAAAAAAGAAGGAAAGAAAGAGAAAGAGAGAGAAAGAAAGAAAGAAAGAGAAAGAAAAAAGATTTTATTGGTGGTGGAGGAAGGATGTTTGGGCCTGGGAGACTTTGAGTTGAGGTGTCTTTGAGCCAAACATGGGGGCAAACATGGACTGCAAGGAGCCTGGAGGTGAGTGCATTCCCTGGCCCTGCTCAGCTGCTTGGTTCCTGTTTCTGCAGATCTCAACTACTGCACCCACCACTCCCCATGCAAGAATGGGGCAACGTGCTCCAACAGTGGGCAGCGAAGCTACACCTGCACCTGTCGCCCAGGCTACACTGGTGTGGACTGTGAGCTGGAGCTCAGCGAGTGTGACAGCAACCCCTGTCGCAATGGAGGCAGCTGTAAGGTGAGGCCCAGACCAGCGCAGGAAGACAGAGGTGTCAGGTGGTGTCTGGGCATCCCTAACCTAGGCAGTTAGTGGATGTACAGCCATGGACAGGCATTGTGGGCAGGTGGAGCCCAGCCTTCAGTCACACATCCCTGCCCCCCAGGGTCTGACTTTGGCCCCTTTATGGTCTCTCTCCAGGACCAGGAGGATGGCTACCACTGCCTGTGTCCTCCGGGCTACTATGGCCTGCATTGTGAACACAGCACCTTGAGCTGCGCCGACTCCCCCTGCTTCAATGGGGGCTCCTGCCGGGAGCGCAACCAGGGGGCCAACTATGCTTGTGAATGTCCCCCCAACTTCACCGGCTCCAACTGCGAGAAGAAAGTGGACAGGTGCACCAGCAACCCCTGTGCCAACGGTGCGTGCTGCTGCCCTGCTAACCTGGTGGACTGGCCCTGGGGCTGAGAGAGACTTCTGGTGAGGGAGGGTCAGGAGAGGAGCGAGGCATTGTCTGCCACTCTGGCCCCCCATCTGCTCTGGAGGGCGAAGAGCTTGCTTGATCAGCTGGGGGGCTGTGGAAGCGGAGCTGGTTAGTTGCACGCAGGCCTTAGGAGCAGGGGTGGTATGCACCCTGCATAGCTTCCATTCCTATTCCCATGTCAGAACCCCGTCCTGGCTGGGGTGGCCTCTGACCCTCCCCAGGAAGTCCTGAGCTGGAGAGAGGGATGTTGGAGGCTTCATGTTTCTCCTCAAAGGAGGCAGTGATTCAGTCAGAGCCCTGCTCCTGGAGGCCTCATCTTGCCCCGTGCCCAGGTAGAGCATGAGGTAGCATGAGGCATCTTGAATGTTTGCACCTTTTGAGGCACAAAGCCTGTTGGTAATCCTTGTCTATCTGGCTCCCAGGTGACCCTCTGTGAGGCAGGCAGGCAGGCAGCGCTCAGGAGCTGGAGAGGGGTGGGAAGGGCTGAGAGGGAGTCTGCTCTCTCACTGAAGCCTCTGGCACTGCCATTTCTTCATCACTGAATGGGAAACTATAATACCTGTCCTCTGTCCTTCATGTGGTTGTGAAGATGAAGTAAAACAGTCATGATTGTACTTATCCGAGCATTAACTATATACCAAACATGGGCTCTTGCCTTCATGTACCTTCCCGGCTATCCTATGAAGGGGCTAGCATTCTACTCCAGTCTAACAAATGGGGAAACTGAGGCTTAGAGACACGGTTAAGCAGCAAGTGCCAGATCTCAGGCCACAGAGTGACAGCTGAGGTCCCAACTCAAGCCTATCTGTCTGATTCTACGTTAAAGTTCTGTAAGATGCTAGTCATTTTTATACATGAGCCCACTGAGGCCGAGAGAATCAAGGTCATGCTAAACTCCAGGTCTCCTGACTCTGTGCAGTTCTCTTTGTAGTGGGCTCTGCAGGTGGAGGTAGAAGGGCCCGAACGTGTTCCTGGAATGGGGCTCCCACCCCCTGCCCCAGGGAGCTCCCAGGCTATCACTGACTTGTGTCTCATGCGTCCTCACAGGGGGACAGTGCCTGAACCGAGGTCCAAGCCGCATGTGCCGCTGCCGTCCTGGATTCACGGGCACCTACTCTGAACTCCACGTCAGCGACTGTGCCCGTAACCCTTGCGCCCACGGTGGCACTTGCCATGACCTGGAGAATGGGCTCATGTGCACCTGCCCTGCCGGCTTCTCTGGCCGACGCTGTGAGGTGCGGACATCCATCGATGCCTGTGCCTCGAGTCCCTGCTTCAACAGGGCCACCTGCTACACCGACCTCTCCACAGACACCTTTGTGTGCAACTGCCCTTATGGCTTTGTGGGCAGCCGCTGCGAGTTCCCCGTGGGCTTGCCGCCCAGCTTCCCCTGGGTGGCCGTCTCGCTGGGTGTGGGGCTGGCAGTGCTGCTGGTACTGCTGGGCATGGTGGCAGTGGCTGTGCGGCAGCTGCGGCTTCGACGGCCGGACGACGGCAGCAGGGAAGCCATGAACAACTTGTCGGACTTCCAGAAGGACAACCTGATTCCTGCCGCCCAGCTTAAAAACACAAACCAGAAGAAGGAGCTGGAAGTGGACTGTGGCCTGGACAAGTCCAACTGTGGCAAACAGCAAAACCACACATTGGACTATAATCTGGCCCCAGGGCCCCTGGGGCGGGGGACCATGCCAGGAAAGTTTCCCCACAGTGACAAGAGCTTAGGAGAGAAGGCGCCACTGCGGTTACACAGGTGAGTGGCACCCAGAAGCCCAGGGCCTGGCCACCGGCCCCGACATGGTTCTGCCTAGGCTCCTCTTAGGCCAGGCGGGAAGCAGTTAAGCAGCTGAGGTTTTGTTACTGACAGGAAGATCCTCCAGTAGGATTTCTGTCAGGGGTCCTTTGTCCTTCCCTCCCATTCATTCATTTGTTCATTCACACATGTCAAGTGTCCCTAGGGTGTCTCTTGTGACTTCCGTCTTTCCACAGTGTGGCTTGCCTCTAGTGGCAGCACTGGCTTTATGCAGGGCTCAGACCCTTCTGGTGAGGTTGGGAGGCCTGTGACTCTCTTAGGGGCCTTTTCCTAAGTGCCCCCCTGCAGCAGCCCAGCACTGGGCACGTCCAGCCCCTGTGTCTTCCCCAAGAACCACCCTGCAGATGCCCTTTGGCTCTCCAGGGTCCTCCCTCCCCCCAAGCCTCTCCCCGTCCCTCCCTTACACGCCTGTCTTGTGTTCCCTCAGTGAAAAGCCAGAGTGTCGGATATCAGCGATATGCTCCCCCAGGGACTCCATGTACCAGTCTGTGTGTTTGATATCAGAGGAGAGGAATGAATGTGTCATTGCCACGGAGGTGAGTGCTGGGCTCGCCTTTCCTTCTGCCTTTTGTGGGAGGGAAAGTGGCCTGGTCACTCTTGACCCATGGGCCATTCCTGAAGGGTAGGTCAGAACCCTGCCTTGGCAGGCCAAGTTCAGTGGACTCTTGGGTCCCTGCTGGCCTCATTGCCACTAAGGGTGTGAAACAGGAACCATGGCGGCAAGCCTGGTCTGGTCCTTTCCTGCTGTATTGGTGCTGGGTTGGGCAGCCACGGCACTGCTGGCCAGCCTCTGATGGGTGAGGGGGCCCCTCACCCCTTGTGCCCTTCCTGCCCCTTCCCACTGGCTTCCTCCATTGACCTCATGAGCGCAAGCTCCCAGGCCCGTGTGTGTGTTGGGCCGAAGACTGGGGAGGACTGCCCCACCTGCCCTTAGCCCCTGCCTGCCCCATCGCCTTCTCCCAGGGAGGCCCAGGGAGGGCCTGGAGGGAGTGCGCATGCCCAGGGTAACCTGTTTCCCTGCCTTCCGCTTGCTCCCAGGTATAAGGCAGGAGCCTACCTGGACATCCCTGCTCAGCCCCGCGGCTGGACCTTCCTTCTGCATTGTTTACATTGCATCCTGGATGGGACGTTTTTCATATGCAACGTGCTGCTCTCAGGAGGAGGAGGGAATGGCAGGAACCGGACAGACTGTGAACTTGCCAAGAGATGCAATACCCTTCCACACCTTTGGGTGTCTGTCTGGCATCAGATTGGCAGCTGCACCAACCAGAGGAACAGAAGAGAAGAGAGATGCCACTGGGCACTGCCCTGCCAGTAGTGGCCTTCAGGGGGCTCCTTCCGGGGCTCCGGCCTG
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Task1_train_20544
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A genomic change on Chromosome 15 affects DLL4 (delta like canonical Notch ligand 4). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Adams-Oliver syndrome
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CGACAGAGTGAGACTCTGTTAAAAAAAAAAAAAAAAGAAGGAAAGAAAGAGAAAGAGAGAGAAAGAAAGAAAGAAAGAGAAAGAAAAAAGATTTTATTGGTGGTGGAGGAAGGATGTTTGGGCCTGGGAGACTTTGAGTTGAGGTGTCTTTGAGCCAAACATGGGGGCAAACATGGACTGCAAGGAGCCTGGAGGTGAGTGCATTCCCTGGCCCTGCTCAGCTGCTTGGTTCCTGTTTCTGCAGATCTCAACTACTGCACCCACCACTCCCCATGCAAGAATGGGGCAACGTGCTCCAACAGTGGGCAGCGAAGCTACACCTGCACCTGTCGCCCAGGCTACACTGGTGTGGACTGTGAGCTGGAGCTCAGCGAGTGTGACAGCAACCCCTGTCGCAATGGAGGCAGCTGTAAGGTGAGGCCCAGACCAGCGCAGGAAGACAGAGGTGTCAGGTGGTGTCTGGGCATCCCTAACCTAGGCAGTTAGTGGATGTACAGCCATGGACAGGCATTGTGGGCAGGTGGAGCCCAGCCTTCAGTCACACATCCCTGCCCCCCAGGGTCTGACTTTGGCCCCTTTATGGTCTCTCTCCAGGACCAGGAGGATGGCTACCACTGCCTGTGTCCTCCGGGCTACTATGGCCTGCATTGTGAACACAGCACCTTGAGCTGCGCCGACTCCCCCTGCTTCAATGGGGGCTCCTGCCGGGAGCGCAACCAGGGGGCCAACTATGCTTGTGAATGTCCCCCCAACTTCACCGGCTCCAACTGCGAGAAGAAAGTGGACAGGTGCACCAGCAACCCCTGTGCCAACGGTGCGTGCTGCTGCCCTGCTAACCTGGTGGACTGGCCCTGGGGCTGAGAGAGACTTCTGGTGAGGGAGGGTCAGGAGAGGAGCGAGGCATTGTCTGCCACTCTGGCCCCCCATCTGCTCTGGAGGGCGAAGAGCTTGCTTGATCAGCTGGGGGGCTGTGGAAGCGGAGCTGGTTAGTTGCACGCAGGCCTTAGGAGCAGGGGTGGTATGCACCCTGCATAGCTTCCATTCCTATTCCCATGTCAGAACCCCGTCCTGGCTGGGGTGGCCTCTGACCCTCCCCAGGAAGTCCTGAGCTGGAGAGAGGGATGTTGGAGGCTTCATGTTTCTCCTCAAAGGAGGCAGTGATTCAGTCAGAGCCCTGCTCCTGGAGGCCTCATCTTGCCCCGTGCCCAGGTAGAGCATGAGGTAGCATGAGGCATCTTGAATGTTTGCACCTTTTGAGGCACAAAGCCTGTTGGTAATCCTTGTCTATCTGGCTCCCAGGTGACCCTCTGTGAGGCAGGCAGGCAGGCAGCGCTCAGGAGCTGGAGAGGGGTGGGAAGGGCTGAGAGGGAGTCTGCTCTCTCACTGAAGCCTCTGGCACTGCCATTTCTTCATCACTGAATGGGAAACTATAATACCTGTCCTCTGTCCTTCATGTGGTTGTGAAGATGAAGTAAAACAGTCATGATTGTACTTATCCGAGCATTAACTATATACCAAACATGGGCTCTTGCCTTCATGTACCTTCCCGGCTATCCTATGAAGGGGCTAGCATTCTACTCCAGTCTAACAAATGGGGAAACTGAGGCTTAGAGACACGGTTAAGCAGCAAGTGCCAGATCTCAGGCCACAGAGTGACAGCTGAGGTCCCAACTCAAGCCTATCTGTCTGATTCTACGTTAAAGTTCTGTAAGATGCTAGTCATTTTTATACATGAGCCCACTGAGGCCGAGAGAATCAAGGTCATGCTAAACTCCAGGTCTCCTGACTCTGTGCAGTTCTCTTTGTAGTGGGCTCTGCAGGTGGAGGTAGAAGGGCCCGAACGTGTTCCTGGAATGGGGCTCCCACCCCCTGCCCCAGGGAGCTCCCAGGCTATCACTGACTTGTGTCTCATGCGTCCTCACAGGGGGACAGTGCCTGAACCGAGGTCCAAGCCGCATGTGCCGCTGCCGTCCTGGATTCACGGGCACCTACTGTGAACTCCACGTCAGCGACTGTGCCCGTAACCCTTGCGCCCACGGTGGCACTTGCCATGACCTGGAGAATGGGCTCATGTGCACCTGCCCTGCCGGCTTCTCTGGCCGACGCTGTGAGGTGCGGACATCCATCGATGCCTGTGCCTCGAGTCCCTGCTTCAACAGGGCCACCTGCTACACCGACCTCTCCACAGACACCTTTGTGTGCAACTGCCCTTATGGCTTTGTGGGCAGCCGCTGCGAGTTCCCCGTGGGCTTGCCGCCCAGCTTCCCCTGGGTGGCCGTCTCGCTGGGTGTGGGGCTGGCAGTGCTGCTGGTACTGCTGGGCATGGTGGCAGTGGCTGTGCGGCAGCTGCGGCTTCGACGGCCGGACGACGGCAGCAGGGAAGCCATGAACAACTTGTCGGACTTCCAGAAGGACAACCTGATTCCTGCCGCCCAGCTTAAAAACACAAACCAGAAGAAGGAGCTGGAAGTGGACTGTGGCCTGGACAAGTCCAACTGTGGCAAACAGCAAAACCACACATTGGACTATAATCTGGCCCCAGGGCCCCTGGGGCGGGGGACCATGCCAGGAAAGTTTCCCCACAGTGACAAGAGCTTAGGAGAGAAGGCGCCACTGCGGTTACACAGGTGAGTGGCACCCAGAAGCCCAGGGCCTGGCCACCGGCCCCGACATGGTTCTGCCTAGGCTCCTCTTAGGCCAGGCGGGAAGCAGTTAAGCAGCTGAGGTTTTGTTACTGACAGGAAGATCCTCCAGTAGGATTTCTGTCAGGGGTCCTTTGTCCTTCCCTCCCATTCATTCATTTGTTCATTCACACATGTCAAGTGTCCCTAGGGTGTCTCTTGTGACTTCCGTCTTTCCACAGTGTGGCTTGCCTCTAGTGGCAGCACTGGCTTTATGCAGGGCTCAGACCCTTCTGGTGAGGTTGGGAGGCCTGTGACTCTCTTAGGGGCCTTTTCCTAAGTGCCCCCCTGCAGCAGCCCAGCACTGGGCACGTCCAGCCCCTGTGTCTTCCCCAAGAACCACCCTGCAGATGCCCTTTGGCTCTCCAGGGTCCTCCCTCCCCCCAAGCCTCTCCCCGTCCCTCCCTTACACGCCTGTCTTGTGTTCCCTCAGTGAAAAGCCAGAGTGTCGGATATCAGCGATATGCTCCCCCAGGGACTCCATGTACCAGTCTGTGTGTTTGATATCAGAGGAGAGGAATGAATGTGTCATTGCCACGGAGGTGAGTGCTGGGCTCGCCTTTCCTTCTGCCTTTTGTGGGAGGGAAAGTGGCCTGGTCACTCTTGACCCATGGGCCATTCCTGAAGGGTAGGTCAGAACCCTGCCTTGGCAGGCCAAGTTCAGTGGACTCTTGGGTCCCTGCTGGCCTCATTGCCACTAAGGGTGTGAAACAGGAACCATGGCGGCAAGCCTGGTCTGGTCCTTTCCTGCTGTATTGGTGCTGGGTTGGGCAGCCACGGCACTGCTGGCCAGCCTCTGATGGGTGAGGGGGCCCCTCACCCCTTGTGCCCTTCCTGCCCCTTCCCACTGGCTTCCTCCATTGACCTCATGAGCGCAAGCTCCCAGGCCCGTGTGTGTGTTGGGCCGAAGACTGGGGAGGACTGCCCCACCTGCCCTTAGCCCCTGCCTGCCCCATCGCCTTCTCCCAGGGAGGCCCAGGGAGGGCCTGGAGGGAGTGCGCATGCCCAGGGTAACCTGTTTCCCTGCCTTCCGCTTGCTCCCAGGTATAAGGCAGGAGCCTACCTGGACATCCCTGCTCAGCCCCGCGGCTGGACCTTCCTTCTGCATTGTTTACATTGCATCCTGGATGGGACGTTTTTCATATGCAACGTGCTGCTCTCAGGAGGAGGAGGGAATGGCAGGAACCGGACAGACTGTGAACTTGCCAAGAGATGCAATACCCTTCCACACCTTTGGGTGTCTGTCTGGCATCAGATTGGCAGCTGCACCAACCAGAGGAACAGAAGAGAAGAGAGATGCCACTGGGCACTGCCCTGCCAGTAGTGGCCTTCAGGGGGCTCCTTCCGGGGCTCCGGCCTGTTTTCCAGAGAGAGTGGCAGTAGCCCCATGGGGCCCGGAGCTGCTGTGGCCTCCA
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CGACAGAGTGAGACTCTGTTAAAAAAAAAAAAAAAAGAAGGAAAGAAAGAGAAAGAGAGAGAAAGAAAGAAAGAAAGAGAAAGAAAAAAGATTTTATTGGTGGTGGAGGAAGGATGTTTGGGCCTGGGAGACTTTGAGTTGAGGTGTCTTTGAGCCAAACATGGGGGCAAACATGGACTGCAAGGAGCCTGGAGGTGAGTGCATTCCCTGGCCCTGCTCAGCTGCTTGGTTCCTGTTTCTGCAGATCTCAACTACTGCACCCACCACTCCCCATGCAAGAATGGGGCAACGTGCTCCAACAGTGGGCAGCGAAGCTACACCTGCACCTGTCGCCCAGGCTACACTGGTGTGGACTGTGAGCTGGAGCTCAGCGAGTGTGACAGCAACCCCTGTCGCAATGGAGGCAGCTGTAAGGTGAGGCCCAGACCAGCGCAGGAAGACAGAGGTGTCAGGTGGTGTCTGGGCATCCCTAACCTAGGCAGTTAGTGGATGTACAGCCATGGACAGGCATTGTGGGCAGGTGGAGCCCAGCCTTCAGTCACACATCCCTGCCCCCCAGGGTCTGACTTTGGCCCCTTTATGGTCTCTCTCCAGGACCAGGAGGATGGCTACCACTGCCTGTGTCCTCCGGGCTACTATGGCCTGCATTGTGAACACAGCACCTTGAGCTGCGCCGACTCCCCCTGCTTCAATGGGGGCTCCTGCCGGGAGCGCAACCAGGGGGCCAACTATGCTTGTGAATGTCCCCCCAACTTCACCGGCTCCAACTGCGAGAAGAAAGTGGACAGGTGCACCAGCAACCCCTGTGCCAACGGTGCGTGCTGCTGCCCTGCTAACCTGGTGGACTGGCCCTGGGGCTGAGAGAGACTTCTGGTGAGGGAGGGTCAGGAGAGGAGCGAGGCATTGTCTGCCACTCTGGCCCCCCATCTGCTCTGGAGGGCGAAGAGCTTGCTTGATCAGCTGGGGGGCTGTGGAAGCGGAGCTGGTTAGTTGCACGCAGGCCTTAGGAGCAGGGGTGGTATGCACCCTGCATAGCTTCCATTCCTATTCCCATGTCAGAACCCCGTCCTGGCTGGGGTGGCCTCTGACCCTCCCCAGGAAGTCCTGAGCTGGAGAGAGGGATGTTGGAGGCTTCATGTTTCTCCTCAAAGGAGGCAGTGATTCAGTCAGAGCCCTGCTCCTGGAGGCCTCATCTTGCCCCGTGCCCAGGTAGAGCATGAGGTAGCATGAGGCATCTTGAATGTTTGCACCTTTTGAGGCACAAAGCCTGTTGGTAATCCTTGTCTATCTGGCTCCCAGGTGACCCTCTGTGAGGCAGGCAGGCAGGCAGCGCTCAGGAGCTGGAGAGGGGTGGGAAGGGCTGAGAGGGAGTCTGCTCTCTCACTGAAGCCTCTGGCACTGCCATTTCTTCATCACTGAATGGGAAACTATAATACCTGTCCTCTGTCCTTCATGTGGTTGTGAAGATGAAGTAAAACAGTCATGATTGTACTTATCCGAGCATTAACTATATACCAAACATGGGCTCTTGCCTTCATGTACCTTCCCGGCTATCCTATGAAGGGGCTAGCATTCTACTCCAGTCTAACAAATGGGGAAACTGAGGCTTAGAGACACGGTTAAGCAGCAAGTGCCAGATCTCAGGCCACAGAGTGACAGCTGAGGTCCCAACTCAAGCCTATCTGTCTGATTCTACGTTAAAGTTCTGTAAGATGCTAGTCATTTTTATACATGAGCCCACTGAGGCCGAGAGAATCAAGGTCATGCTAAACTCCAGGTCTCCTGACTCTGTGCAGTTCTCTTTGTAGTGGGCTCTGCAGGTGGAGGTAGAAGGGCCCGAACGTGTTCCTGGAATGGGGCTCCCACCCCCTGCCCCAGGGAGCTCCCAGGCTATCACTGACTTGTGTCTCATGCGTCCTCACAGGGGGACAGTGCCTGAACCGAGGTCCAAGCCGCATGTGCCGCTGCCGTCCTGGATTCACGGGCACCTACTGTGAACTCCACGTCAGCGACTGTGCCCGTAACCCTTGCGCCCACGGTGGCACTTGGCATGACCTGGAGAATGGGCTCATGTGCACCTGCCCTGCCGGCTTCTCTGGCCGACGCTGTGAGGTGCGGACATCCATCGATGCCTGTGCCTCGAGTCCCTGCTTCAACAGGGCCACCTGCTACACCGACCTCTCCACAGACACCTTTGTGTGCAACTGCCCTTATGGCTTTGTGGGCAGCCGCTGCGAGTTCCCCGTGGGCTTGCCGCCCAGCTTCCCCTGGGTGGCCGTCTCGCTGGGTGTGGGGCTGGCAGTGCTGCTGGTACTGCTGGGCATGGTGGCAGTGGCTGTGCGGCAGCTGCGGCTTCGACGGCCGGACGACGGCAGCAGGGAAGCCATGAACAACTTGTCGGACTTCCAGAAGGACAACCTGATTCCTGCCGCCCAGCTTAAAAACACAAACCAGAAGAAGGAGCTGGAAGTGGACTGTGGCCTGGACAAGTCCAACTGTGGCAAACAGCAAAACCACACATTGGACTATAATCTGGCCCCAGGGCCCCTGGGGCGGGGGACCATGCCAGGAAAGTTTCCCCACAGTGACAAGAGCTTAGGAGAGAAGGCGCCACTGCGGTTACACAGGTGAGTGGCACCCAGAAGCCCAGGGCCTGGCCACCGGCCCCGACATGGTTCTGCCTAGGCTCCTCTTAGGCCAGGCGGGAAGCAGTTAAGCAGCTGAGGTTTTGTTACTGACAGGAAGATCCTCCAGTAGGATTTCTGTCAGGGGTCCTTTGTCCTTCCCTCCCATTCATTCATTTGTTCATTCACACATGTCAAGTGTCCCTAGGGTGTCTCTTGTGACTTCCGTCTTTCCACAGTGTGGCTTGCCTCTAGTGGCAGCACTGGCTTTATGCAGGGCTCAGACCCTTCTGGTGAGGTTGGGAGGCCTGTGACTCTCTTAGGGGCCTTTTCCTAAGTGCCCCCCTGCAGCAGCCCAGCACTGGGCACGTCCAGCCCCTGTGTCTTCCCCAAGAACCACCCTGCAGATGCCCTTTGGCTCTCCAGGGTCCTCCCTCCCCCCAAGCCTCTCCCCGTCCCTCCCTTACACGCCTGTCTTGTGTTCCCTCAGTGAAAAGCCAGAGTGTCGGATATCAGCGATATGCTCCCCCAGGGACTCCATGTACCAGTCTGTGTGTTTGATATCAGAGGAGAGGAATGAATGTGTCATTGCCACGGAGGTGAGTGCTGGGCTCGCCTTTCCTTCTGCCTTTTGTGGGAGGGAAAGTGGCCTGGTCACTCTTGACCCATGGGCCATTCCTGAAGGGTAGGTCAGAACCCTGCCTTGGCAGGCCAAGTTCAGTGGACTCTTGGGTCCCTGCTGGCCTCATTGCCACTAAGGGTGTGAAACAGGAACCATGGCGGCAAGCCTGGTCTGGTCCTTTCCTGCTGTATTGGTGCTGGGTTGGGCAGCCACGGCACTGCTGGCCAGCCTCTGATGGGTGAGGGGGCCCCTCACCCCTTGTGCCCTTCCTGCCCCTTCCCACTGGCTTCCTCCATTGACCTCATGAGCGCAAGCTCCCAGGCCCGTGTGTGTGTTGGGCCGAAGACTGGGGAGGACTGCCCCACCTGCCCTTAGCCCCTGCCTGCCCCATCGCCTTCTCCCAGGGAGGCCCAGGGAGGGCCTGGAGGGAGTGCGCATGCCCAGGGTAACCTGTTTCCCTGCCTTCCGCTTGCTCCCAGGTATAAGGCAGGAGCCTACCTGGACATCCCTGCTCAGCCCCGCGGCTGGACCTTCCTTCTGCATTGTTTACATTGCATCCTGGATGGGACGTTTTTCATATGCAACGTGCTGCTCTCAGGAGGAGGAGGGAATGGCAGGAACCGGACAGACTGTGAACTTGCCAAGAGATGCAATACCCTTCCACACCTTTGGGTGTCTGTCTGGCATCAGATTGGCAGCTGCACCAACCAGAGGAACAGAAGAGAAGAGAGATGCCACTGGGCACTGCCCTGCCAGTAGTGGCCTTCAGGGGGCTCCTTCCGGGGCTCCGGCCTGTTTTCCAGAGAGAGTGGCAGTAGCCCCATGGGGCCCGGAGCTGCTGTGGCCTCCA
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Task1_train_20545
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Here’s a variant in DLL4 (delta like canonical Notch ligand 4) located on Chromosome 15. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Adams-Oliver syndrome 6
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AAAAGAAGGAAAGAAAGAGAAAGAGAGAGAAAGAAAGAAAGAAAGAGAAAGAAAAAAGATTTTATTGGTGGTGGAGGAAGGATGTTTGGGCCTGGGAGACTTTGAGTTGAGGTGTCTTTGAGCCAAACATGGGGGCAAACATGGACTGCAAGGAGCCTGGAGGTGAGTGCATTCCCTGGCCCTGCTCAGCTGCTTGGTTCCTGTTTCTGCAGATCTCAACTACTGCACCCACCACTCCCCATGCAAGAATGGGGCAACGTGCTCCAACAGTGGGCAGCGAAGCTACACCTGCACCTGTCGCCCAGGCTACACTGGTGTGGACTGTGAGCTGGAGCTCAGCGAGTGTGACAGCAACCCCTGTCGCAATGGAGGCAGCTGTAAGGTGAGGCCCAGACCAGCGCAGGAAGACAGAGGTGTCAGGTGGTGTCTGGGCATCCCTAACCTAGGCAGTTAGTGGATGTACAGCCATGGACAGGCATTGTGGGCAGGTGGAGCCCAGCCTTCAGTCACACATCCCTGCCCCCCAGGGTCTGACTTTGGCCCCTTTATGGTCTCTCTCCAGGACCAGGAGGATGGCTACCACTGCCTGTGTCCTCCGGGCTACTATGGCCTGCATTGTGAACACAGCACCTTGAGCTGCGCCGACTCCCCCTGCTTCAATGGGGGCTCCTGCCGGGAGCGCAACCAGGGGGCCAACTATGCTTGTGAATGTCCCCCCAACTTCACCGGCTCCAACTGCGAGAAGAAAGTGGACAGGTGCACCAGCAACCCCTGTGCCAACGGTGCGTGCTGCTGCCCTGCTAACCTGGTGGACTGGCCCTGGGGCTGAGAGAGACTTCTGGTGAGGGAGGGTCAGGAGAGGAGCGAGGCATTGTCTGCCACTCTGGCCCCCCATCTGCTCTGGAGGGCGAAGAGCTTGCTTGATCAGCTGGGGGGCTGTGGAAGCGGAGCTGGTTAGTTGCACGCAGGCCTTAGGAGCAGGGGTGGTATGCACCCTGCATAGCTTCCATTCCTATTCCCATGTCAGAACCCCGTCCTGGCTGGGGTGGCCTCTGACCCTCCCCAGGAAGTCCTGAGCTGGAGAGAGGGATGTTGGAGGCTTCATGTTTCTCCTCAAAGGAGGCAGTGATTCAGTCAGAGCCCTGCTCCTGGAGGCCTCATCTTGCCCCGTGCCCAGGTAGAGCATGAGGTAGCATGAGGCATCTTGAATGTTTGCACCTTTTGAGGCACAAAGCCTGTTGGTAATCCTTGTCTATCTGGCTCCCAGGTGACCCTCTGTGAGGCAGGCAGGCAGGCAGCGCTCAGGAGCTGGAGAGGGGTGGGAAGGGCTGAGAGGGAGTCTGCTCTCTCACTGAAGCCTCTGGCACTGCCATTTCTTCATCACTGAATGGGAAACTATAATACCTGTCCTCTGTCCTTCATGTGGTTGTGAAGATGAAGTAAAACAGTCATGATTGTACTTATCCGAGCATTAACTATATACCAAACATGGGCTCTTGCCTTCATGTACCTTCCCGGCTATCCTATGAAGGGGCTAGCATTCTACTCCAGTCTAACAAATGGGGAAACTGAGGCTTAGAGACACGGTTAAGCAGCAAGTGCCAGATCTCAGGCCACAGAGTGACAGCTGAGGTCCCAACTCAAGCCTATCTGTCTGATTCTACGTTAAAGTTCTGTAAGATGCTAGTCATTTTTATACATGAGCCCACTGAGGCCGAGAGAATCAAGGTCATGCTAAACTCCAGGTCTCCTGACTCTGTGCAGTTCTCTTTGTAGTGGGCTCTGCAGGTGGAGGTAGAAGGGCCCGAACGTGTTCCTGGAATGGGGCTCCCACCCCCTGCCCCAGGGAGCTCCCAGGCTATCACTGACTTGTGTCTCATGCGTCCTCACAGGGGGACAGTGCCTGAACCGAGGTCCAAGCCGCATGTGCCGCTGCCGTCCTGGATTCACGGGCACCTACTGTGAACTCCACGTCAGCGACTGTGCCCGTAACCCTTGCGCCCACGGTGGCACTTGCCATGACCTGGAGAATGGGCTCATGTGCACCTGCCCTGCCGGCTTCTCTGGCCGACGCTGTGAGGTGCGGACATCCATCGATGCCTGTGCCTCGAGTCCCTGCTTCAACAGGGCCACCTGCTACACCGACCTCTCCACAGACACCTTTGTGTGCAACTGCCCTTATGGCTTTGTGGGCAGCCGCTGCGAGTTCCCCGTGGGCTTGCCGCCCAGCTTCCCCTGGGTGGCCGTCTCGCTGGGTGTGGGGCTGGCAGTGCTGCTGGTACTGCTGGGCATGGTGGCAGTGGCTGTGCGGCAGCTGCGGCTTCGACGGCCGGACGACGGCAGCAGGGAAGCCATGAACAACTTGTCGGACTTCCAGAAGGACAACCTGATTCCTGCCGCCCAGCTTAAAAACACAAACCAGAAGAAGGAGCTGGAAGTGGACTGTGGCCTGGACAAGTCCAACTGTGGCAAACAGCAAAACCACACATTGGACTATAATCTGGCCCCAGGGCCCCTGGGGCGGGGGACCATGCCAGGAAAGTTTCCCCACAGTGACAAGAGCTTAGGAGAGAAGGCGCCACTGCGGTTACACAGGTGAGTGGCACCCAGAAGCCCAGGGCCTGGCCACCGGCCCCGACATGGTTCTGCCTAGGCTCCTCTTAGGCCAGGCGGGAAGCAGTTAAGCAGCTGAGGTTTTGTTACTGACAGGAAGATCCTCCAGTAGGATTTCTGTCAGGGGTCCTTTGTCCTTCCCTCCCATTCATTCATTTGTTCATTCACACATGTCAAGTGTCCCTAGGGTGTCTCTTGTGACTTCCGTCTTTCCACAGTGTGGCTTGCCTCTAGTGGCAGCACTGGCTTTATGCAGGGCTCAGACCCTTCTGGTGAGGTTGGGAGGCCTGTGACTCTCTTAGGGGCCTTTTCCTAAGTGCCCCCCTGCAGCAGCCCAGCACTGGGCACGTCCAGCCCCTGTGTCTTCCCCAAGAACCACCCTGCAGATGCCCTTTGGCTCTCCAGGGTCCTCCCTCCCCCCAAGCCTCTCCCCGTCCCTCCCTTACACGCCTGTCTTGTGTTCCCTCAGTGAAAAGCCAGAGTGTCGGATATCAGCGATATGCTCCCCCAGGGACTCCATGTACCAGTCTGTGTGTTTGATATCAGAGGAGAGGAATGAATGTGTCATTGCCACGGAGGTGAGTGCTGGGCTCGCCTTTCCTTCTGCCTTTTGTGGGAGGGAAAGTGGCCTGGTCACTCTTGACCCATGGGCCATTCCTGAAGGGTAGGTCAGAACCCTGCCTTGGCAGGCCAAGTTCAGTGGACTCTTGGGTCCCTGCTGGCCTCATTGCCACTAAGGGTGTGAAACAGGAACCATGGCGGCAAGCCTGGTCTGGTCCTTTCCTGCTGTATTGGTGCTGGGTTGGGCAGCCACGGCACTGCTGGCCAGCCTCTGATGGGTGAGGGGGCCCCTCACCCCTTGTGCCCTTCCTGCCCCTTCCCACTGGCTTCCTCCATTGACCTCATGAGCGCAAGCTCCCAGGCCCGTGTGTGTGTTGGGCCGAAGACTGGGGAGGACTGCCCCACCTGCCCTTAGCCCCTGCCTGCCCCATCGCCTTCTCCCAGGGAGGCCCAGGGAGGGCCTGGAGGGAGTGCGCATGCCCAGGGTAACCTGTTTCCCTGCCTTCCGCTTGCTCCCAGGTATAAGGCAGGAGCCTACCTGGACATCCCTGCTCAGCCCCGCGGCTGGACCTTCCTTCTGCATTGTTTACATTGCATCCTGGATGGGACGTTTTTCATATGCAACGTGCTGCTCTCAGGAGGAGGAGGGAATGGCAGGAACCGGACAGACTGTGAACTTGCCAAGAGATGCAATACCCTTCCACACCTTTGGGTGTCTGTCTGGCATCAGATTGGCAGCTGCACCAACCAGAGGAACAGAAGAGAAGAGAGATGCCACTGGGCACTGCCCTGCCAGTAGTGGCCTTCAGGGGGCTCCTTCCGGGGCTCCGGCCTGTTTTCCAGAGAGAGTGGCAGTAGCCCCATGGGGCCCGGAGCTGCTGTGGCCTCCACTGGCATCCGTGTTTCCAAAAGTGCCTTTGGC
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AAAAGAAGGAAAGAAAGAGAAAGAGAGAGAAAGAAAGAAAGAAAGAGAAAGAAAAAAGATTTTATTGGTGGTGGAGGAAGGATGTTTGGGCCTGGGAGACTTTGAGTTGAGGTGTCTTTGAGCCAAACATGGGGGCAAACATGGACTGCAAGGAGCCTGGAGGTGAGTGCATTCCCTGGCCCTGCTCAGCTGCTTGGTTCCTGTTTCTGCAGATCTCAACTACTGCACCCACCACTCCCCATGCAAGAATGGGGCAACGTGCTCCAACAGTGGGCAGCGAAGCTACACCTGCACCTGTCGCCCAGGCTACACTGGTGTGGACTGTGAGCTGGAGCTCAGCGAGTGTGACAGCAACCCCTGTCGCAATGGAGGCAGCTGTAAGGTGAGGCCCAGACCAGCGCAGGAAGACAGAGGTGTCAGGTGGTGTCTGGGCATCCCTAACCTAGGCAGTTAGTGGATGTACAGCCATGGACAGGCATTGTGGGCAGGTGGAGCCCAGCCTTCAGTCACACATCCCTGCCCCCCAGGGTCTGACTTTGGCCCCTTTATGGTCTCTCTCCAGGACCAGGAGGATGGCTACCACTGCCTGTGTCCTCCGGGCTACTATGGCCTGCATTGTGAACACAGCACCTTGAGCTGCGCCGACTCCCCCTGCTTCAATGGGGGCTCCTGCCGGGAGCGCAACCAGGGGGCCAACTATGCTTGTGAATGTCCCCCCAACTTCACCGGCTCCAACTGCGAGAAGAAAGTGGACAGGTGCACCAGCAACCCCTGTGCCAACGGTGCGTGCTGCTGCCCTGCTAACCTGGTGGACTGGCCCTGGGGCTGAGAGAGACTTCTGGTGAGGGAGGGTCAGGAGAGGAGCGAGGCATTGTCTGCCACTCTGGCCCCCCATCTGCTCTGGAGGGCGAAGAGCTTGCTTGATCAGCTGGGGGGCTGTGGAAGCGGAGCTGGTTAGTTGCACGCAGGCCTTAGGAGCAGGGGTGGTATGCACCCTGCATAGCTTCCATTCCTATTCCCATGTCAGAACCCCGTCCTGGCTGGGGTGGCCTCTGACCCTCCCCAGGAAGTCCTGAGCTGGAGAGAGGGATGTTGGAGGCTTCATGTTTCTCCTCAAAGGAGGCAGTGATTCAGTCAGAGCCCTGCTCCTGGAGGCCTCATCTTGCCCCGTGCCCAGGTAGAGCATGAGGTAGCATGAGGCATCTTGAATGTTTGCACCTTTTGAGGCACAAAGCCTGTTGGTAATCCTTGTCTATCTGGCTCCCAGGTGACCCTCTGTGAGGCAGGCAGGCAGGCAGCGCTCAGGAGCTGGAGAGGGGTGGGAAGGGCTGAGAGGGAGTCTGCTCTCTCACTGAAGCCTCTGGCACTGCCATTTCTTCATCACTGAATGGGAAACTATAATACCTGTCCTCTGTCCTTCATGTGGTTGTGAAGATGAAGTAAAACAGTCATGATTGTACTTATCCGAGCATTAACTATATACCAAACATGGGCTCTTGCCTTCATGTACCTTCCCGGCTATCCTATGAAGGGGCTAGCATTCTACTCCAGTCTAACAAATGGGGAAACTGAGGCTTAGAGACACGGTTAAGCAGCAAGTGCCAGATCTCAGGCCACAGAGTGACAGCTGAGGTCCCAACTCAAGCCTATCTGTCTGATTCTACGTTAAAGTTCTGTAAGATGCTAGTCATTTTTATACATGAGCCCACTGAGGCCGAGAGAATCAAGGTCATGCTAAACTCCAGGTCTCCTGACTCTGTGCAGTTCTCTTTGTAGTGGGCTCTGCAGGTGGAGGTAGAAGGGCCCGAACGTGTTCCTGGAATGGGGCTCCCACCCCCTGCCCCAGGGAGCTCCCAGGCTATCACTGACTTGTGTCTCATGCGTCCTCACAGGGGGACAGTGCCTGAACCGAGGTCCAAGCCGCATGTGCCGCTGCCGTCCTGGATTCACGGGCACCTACTGTGAACTCCACGTCAGCGACTGTGCCCGTAACCCTTGCGCCCACGGTGGCACTTGCCATGACCTGGAGAATGGGCTCATGTGCACCTACCCTGCCGGCTTCTCTGGCCGACGCTGTGAGGTGCGGACATCCATCGATGCCTGTGCCTCGAGTCCCTGCTTCAACAGGGCCACCTGCTACACCGACCTCTCCACAGACACCTTTGTGTGCAACTGCCCTTATGGCTTTGTGGGCAGCCGCTGCGAGTTCCCCGTGGGCTTGCCGCCCAGCTTCCCCTGGGTGGCCGTCTCGCTGGGTGTGGGGCTGGCAGTGCTGCTGGTACTGCTGGGCATGGTGGCAGTGGCTGTGCGGCAGCTGCGGCTTCGACGGCCGGACGACGGCAGCAGGGAAGCCATGAACAACTTGTCGGACTTCCAGAAGGACAACCTGATTCCTGCCGCCCAGCTTAAAAACACAAACCAGAAGAAGGAGCTGGAAGTGGACTGTGGCCTGGACAAGTCCAACTGTGGCAAACAGCAAAACCACACATTGGACTATAATCTGGCCCCAGGGCCCCTGGGGCGGGGGACCATGCCAGGAAAGTTTCCCCACAGTGACAAGAGCTTAGGAGAGAAGGCGCCACTGCGGTTACACAGGTGAGTGGCACCCAGAAGCCCAGGGCCTGGCCACCGGCCCCGACATGGTTCTGCCTAGGCTCCTCTTAGGCCAGGCGGGAAGCAGTTAAGCAGCTGAGGTTTTGTTACTGACAGGAAGATCCTCCAGTAGGATTTCTGTCAGGGGTCCTTTGTCCTTCCCTCCCATTCATTCATTTGTTCATTCACACATGTCAAGTGTCCCTAGGGTGTCTCTTGTGACTTCCGTCTTTCCACAGTGTGGCTTGCCTCTAGTGGCAGCACTGGCTTTATGCAGGGCTCAGACCCTTCTGGTGAGGTTGGGAGGCCTGTGACTCTCTTAGGGGCCTTTTCCTAAGTGCCCCCCTGCAGCAGCCCAGCACTGGGCACGTCCAGCCCCTGTGTCTTCCCCAAGAACCACCCTGCAGATGCCCTTTGGCTCTCCAGGGTCCTCCCTCCCCCCAAGCCTCTCCCCGTCCCTCCCTTACACGCCTGTCTTGTGTTCCCTCAGTGAAAAGCCAGAGTGTCGGATATCAGCGATATGCTCCCCCAGGGACTCCATGTACCAGTCTGTGTGTTTGATATCAGAGGAGAGGAATGAATGTGTCATTGCCACGGAGGTGAGTGCTGGGCTCGCCTTTCCTTCTGCCTTTTGTGGGAGGGAAAGTGGCCTGGTCACTCTTGACCCATGGGCCATTCCTGAAGGGTAGGTCAGAACCCTGCCTTGGCAGGCCAAGTTCAGTGGACTCTTGGGTCCCTGCTGGCCTCATTGCCACTAAGGGTGTGAAACAGGAACCATGGCGGCAAGCCTGGTCTGGTCCTTTCCTGCTGTATTGGTGCTGGGTTGGGCAGCCACGGCACTGCTGGCCAGCCTCTGATGGGTGAGGGGGCCCCTCACCCCTTGTGCCCTTCCTGCCCCTTCCCACTGGCTTCCTCCATTGACCTCATGAGCGCAAGCTCCCAGGCCCGTGTGTGTGTTGGGCCGAAGACTGGGGAGGACTGCCCCACCTGCCCTTAGCCCCTGCCTGCCCCATCGCCTTCTCCCAGGGAGGCCCAGGGAGGGCCTGGAGGGAGTGCGCATGCCCAGGGTAACCTGTTTCCCTGCCTTCCGCTTGCTCCCAGGTATAAGGCAGGAGCCTACCTGGACATCCCTGCTCAGCCCCGCGGCTGGACCTTCCTTCTGCATTGTTTACATTGCATCCTGGATGGGACGTTTTTCATATGCAACGTGCTGCTCTCAGGAGGAGGAGGGAATGGCAGGAACCGGACAGACTGTGAACTTGCCAAGAGATGCAATACCCTTCCACACCTTTGGGTGTCTGTCTGGCATCAGATTGGCAGCTGCACCAACCAGAGGAACAGAAGAGAAGAGAGATGCCACTGGGCACTGCCCTGCCAGTAGTGGCCTTCAGGGGGCTCCTTCCGGGGCTCCGGCCTGTTTTCCAGAGAGAGTGGCAGTAGCCCCATGGGGCCCGGAGCTGCTGTGGCCTCCACTGGCATCCGTGTTTCCAAAAGTGCCTTTGGC
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Task1_train_20546
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This is a variant in NDUFAF1 (NADH:ubiquinone oxidoreductase complex assembly factor 1), located on Chromosome 15. Is this mutation a likely cause of disease or not?
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Pathogenic; Mitochondrial complex 1 deficiency, nuclear type 11
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CCTGGACCAGGGTGGGAGTAGAAGAGATGGCTAGAAATGGTCAGCTGCTGAGTGTATTTTGGAAGCAGAGGTGACAGGACTCGCTAATAGACTGGATGTGGGGCAAAGGAGAAGAATTCAGGATGACCCTCAAGTATATGACATGAGCAAAATGGGGACTTTCTTGTTGAGTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGGTCTCAGCTTACTGCAACCTCCACCTCCCAAGTTCAAGCAATCCTCCTGCCTCAGCCCCCCTAGTAGCTGGGATTACAGGCACACACCACCATGCCCGGCTAATTTTTTTTTTTTTTTTTTTTTTTTTGAGACGAAGTCTCCCGCCCAGCCTGGAGTGCAGTGGCACGATCTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACCTGCCACCAAGCCCGGCTAATTTTTTTTGTATTTTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGAATGGTCTCCATCATCTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCGCGGCCGGCCTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCAGGCTGGAGAGCAGTGGCCCATCTCGGCTCACTGCCACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACGACGCCACCACACCCAACTAATTTTTTTATTTTTAGTAGAGACAGAGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTCTAATTCTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTAGCCAGGCTGGTCTCAAACTCCTGATCTCAGGTGATTTACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGACATGAGCCACCACGCCTGGCCTAGGACACTACTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAAAGTTTGGCTCTTGTTGCCCAGGCTGGAGTGCAATGACACGATCTCGGCTCACCGAAACCTCCGCCTCCTGGGTTCAAGCAATTATCCTGCCTTAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCCAGCTAATTTTGTATTTTTTTTAGTAGAGACAACAGGGTTTCTCCATGTTGGTCAGGCTGGTGTCGAACTCCCAACCTCAAGTGATCCGTCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCAGGCCTAGGACACCAACTTTAGCAGAGTTGCCTGGAAGACATGAAATGGCAGAAACTTCTAAAAAACAAACAAACCCCATCTATTTGGACACAGAGCAGAGATGTGCCTGTGACTTAGCATGGACCTGGCCACATCCATATCAAAAATATTCACTAGTTAGTATGTTAACATTTATATTAATGAAACAAAATTCATTTATGTCTCTTAACCTTTCTTCTACCCACCCACCCCCACCTTCCAAGAAAGATTAGTAACAAAAAAGAAACTACAATGTAACAATCATCTCCAAGACTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATCTCACTCTGTTGCCCAGGCTGGAGTACAATGGCACGATCAGAGACTAGGTTTCACCATGTTGGCCAACCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAATTGCTGGGATTATAGGCGTGAGCCACCTCACCCAGCCAAGACCTCATTTTTATAAACAATGAAGATTTATGCTGTTACCTTGACCTCCTGCCAGTAGGGTCCCCCGCGGGTGAACATGAAGTAACTATACATCTGATTCGTCCTCTGGAAGAAATCTGTGTCCTCCTTGATATTCACCATCCAAGGCCGACCATCCCCACGTACACGGAGATACAGAGTATTGAACTGGGACCAATCGTAAGACATCTTCCTCTCAAAAGCACCCTAAGATATTGAAAGTAAAGTTCATTGTACCTCATTCTCCATTATTAGCAAAATGTGAGTCATCACCAAGTCAGCATCATCAACAGGATGCACTAACCATTTTTCTGACTTTCTGCCCCATAAGAAGGCACATAAACCCAGTGATTATTATTTTAGCACAAAATACTGACATAGTTATATGTTTCTAAGGTAATGTTCAACACACAACTGGCCCAGGACAGTGTTTACATGGGGTAGGCACTCACCTGTGTTCAATGAATGGAAATGAATGTATTTCCTTTACCTGGTCGTATGGAGCAATGACTTTTTCTTTTCTTTTCTTTTCTTTTCTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTGCAAGCTCTGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGTACTATAGGCGCCCAAAACCACACCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCGCCCACCTTGGCCACCCAAAGTGTGGGGATTACAGGCATGAGCCACTGCGCCCGGCCTTTTTTTTTTTTTTTTTTTTTTGAGACAAAGTTTCGCTCTTGTTGCCCAGACTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTCTGCCTCCAGAGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTACCTGGAATTACAGGCATGCACCACCATGTCCAGCACTCTGGGAGGCCAAGGGTGGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGTGCACCAGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGAGGGCGGAAGTTGCAGTGAGCCGAGATCACGCCACTGCACTCTAGCCTGGGCGACAGAGCAAGACTCCGTTTCAAAAAAAAAAAAAGAAAGCCACAGGCTAACCCTACATCCACTCTACAAAACCCCTGGTCATTACAGAGGTTGTGGTCTTTTTTAGAGGAGATGAAAATCTCTCCAAAAATCTTTCAAATGTCTAACCTCTCAGGATTCCTGAAACATAACAATGCTCGTTCCTGGCCCAAAGCAATGCGCAGAAACAAGTTAACTCCTCCTCCTCAGAAACCACTTCCCCCTTGTGCTTCCACTTCACACTTGTGCCAATAGTTACTTATCCCCAGACACAGGTGAGGTGCCAAATATAACATGCCAGGTGTTTTCATTTACAGAAACAAAAGCTATCTTCTATAGTTTATGCTACAATGAAGTTCACCCCTGTTTACTAGAAAACGATGGCTCCTGGGCCTCACCTACCCTTGGAATCCTGGATATCATTGCACAGTACCCACTTCGGGTAGACTCCCCGTCCTGAGGCGCCTCAGAGCTCAGAGTTCCATATAGCAGTGCACTTTGGTTATTCTTGCCCATTTTCAAAAACACTTCACTTCTGCCTCCAATCGTCTTATCAGAAGTCACTGTCCACTTATCCAAATCTTCTTTCCCCCGGAATTGCCAGACAACCTTGGCTTGTTCCAGCAAGACCTCATGCAGAGGGTGGCCTTCCGGTCCTCTCCAATGATCCACAATTTCATCCTTCAAAAGCCTAAAATGGTATATTGCTTCATCTCTAATTGCTTTATCGAAACTAACATCAGGCTTCTCCTCAGAAGAAGTTATATCCAAAGCAACTTCTTTCTGGTGATCTCCTTGCAAATCCCCTTCAGTCTTCCTCTGTGAGGAGGCTTTGCCAGGAGAAGCCACTGGTTTCTGAAGACTACTGGAATACTCTGCAAAGCGAATACCCAAAAATGGATACAAGGCAGAAGTTGGCTTAGAGAATTTTCTGAGAAAATAAGTACCACGCAGCAATTTGT
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CCTGGACCAGGGTGGGAGTAGAAGAGATGGCTAGAAATGGTCAGCTGCTGAGTGTATTTTGGAAGCAGAGGTGACAGGACTCGCTAATAGACTGGATGTGGGGCAAAGGAGAAGAATTCAGGATGACCCTCAAGTATATGACATGAGCAAAATGGGGACTTTCTTGTTGAGTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGGTCTCAGCTTACTGCAACCTCCACCTCCCAAGTTCAAGCAATCCTCCTGCCTCAGCCCCCCTAGTAGCTGGGATTACAGGCACACACCACCATGCCCGGCTAATTTTTTTTTTTTTTTTTTTTTTTTTGAGACGAAGTCTCCCGCCCAGCCTGGAGTGCAGTGGCACGATCTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACCTGCCACCAAGCCCGGCTAATTTTTTTTGTATTTTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGAATGGTCTCCATCATCTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCGCGGCCGGCCTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCAGGCTGGAGAGCAGTGGCCCATCTCGGCTCACTGCCACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACGACGCCACCACACCCAACTAATTTTTTTATTTTTAGTAGAGACAGAGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTCTAATTCTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTAGCCAGGCTGGTCTCAAACTCCTGATCTCAGGTGATTTACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGACATGAGCCACCACGCCTGGCCTAGGACACTACTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAAAGTTTGGCTCTTGTTGCCCAGGCTGGAGTGCAATGACACGATCTCGGCTCACCGAAACCTCCGCCTCCTGGGTTCAAGCAATTATCCTGCCTTAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCCAGCTAATTTTGTATTTTTTTTAGTAGAGACAACAGGGTTTCTCCATGTTGGTCAGGCTGGTGTCGAACTCCCAACCTCAAGTGATCCGTCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCAGGCCTAGGACACCAACTTTAGCAGAGTTGCCTGGAAGACATGAAATGGCAGAAACTTCTAAAAAACAAACAAACCCCATCTATTTGGACACAGAGCAGAGATGTGCCTGTGACTTAGCATGGACCTGGCCACATCCATATCAAAAATATTCACTAGTTAGTATGTTAACATTTATATTAATGAAACAAAATTCATTTATGTCTCTTAACCTTTCTTCTACCCACCCACCCCCACCTTCCAAGAAAGATTAGTAACAAAAAAGAAACTACAATGTAACAATCATCTCCAAGACTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATCTCACTCTGTTGCCCAGGCTGGAGTACAATGGCACGATCAGAGACTAGGTTTCACCATGTTGGCCAACCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAATTGCTGGGATTATAGGCGTGAGCCACCTCACCCAGCCAAGACCTCATTTTTATAAACAATGAAGATTTATGCTGTTACCTTGACCTCCTGCCAGTAGGGTCCCCCGCGGGTGAACATGAAGTAACTATACATCTGATTCGTCCTCTGGAAGAAATCTGTGTCCTCCTTGATATTCACCATCCAAGGCCGACCATCCCCACGTACACGGAGATACAGAGGATTGAACTGGGACCAATCGTAAGACATCTTCCTCTCAAAAGCACCCTAAGATATTGAAAGTAAAGTTCATTGTACCTCATTCTCCATTATTAGCAAAATGTGAGTCATCACCAAGTCAGCATCATCAACAGGATGCACTAACCATTTTTCTGACTTTCTGCCCCATAAGAAGGCACATAAACCCAGTGATTATTATTTTAGCACAAAATACTGACATAGTTATATGTTTCTAAGGTAATGTTCAACACACAACTGGCCCAGGACAGTGTTTACATGGGGTAGGCACTCACCTGTGTTCAATGAATGGAAATGAATGTATTTCCTTTACCTGGTCGTATGGAGCAATGACTTTTTCTTTTCTTTTCTTTTCTTTTCTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTGCAAGCTCTGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGTACTATAGGCGCCCAAAACCACACCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCGCCCACCTTGGCCACCCAAAGTGTGGGGATTACAGGCATGAGCCACTGCGCCCGGCCTTTTTTTTTTTTTTTTTTTTTTGAGACAAAGTTTCGCTCTTGTTGCCCAGACTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTCTGCCTCCAGAGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTACCTGGAATTACAGGCATGCACCACCATGTCCAGCACTCTGGGAGGCCAAGGGTGGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGTGCACCAGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGAGGGCGGAAGTTGCAGTGAGCCGAGATCACGCCACTGCACTCTAGCCTGGGCGACAGAGCAAGACTCCGTTTCAAAAAAAAAAAAAGAAAGCCACAGGCTAACCCTACATCCACTCTACAAAACCCCTGGTCATTACAGAGGTTGTGGTCTTTTTTAGAGGAGATGAAAATCTCTCCAAAAATCTTTCAAATGTCTAACCTCTCAGGATTCCTGAAACATAACAATGCTCGTTCCTGGCCCAAAGCAATGCGCAGAAACAAGTTAACTCCTCCTCCTCAGAAACCACTTCCCCCTTGTGCTTCCACTTCACACTTGTGCCAATAGTTACTTATCCCCAGACACAGGTGAGGTGCCAAATATAACATGCCAGGTGTTTTCATTTACAGAAACAAAAGCTATCTTCTATAGTTTATGCTACAATGAAGTTCACCCCTGTTTACTAGAAAACGATGGCTCCTGGGCCTCACCTACCCTTGGAATCCTGGATATCATTGCACAGTACCCACTTCGGGTAGACTCCCCGTCCTGAGGCGCCTCAGAGCTCAGAGTTCCATATAGCAGTGCACTTTGGTTATTCTTGCCCATTTTCAAAAACACTTCACTTCTGCCTCCAATCGTCTTATCAGAAGTCACTGTCCACTTATCCAAATCTTCTTTCCCCCGGAATTGCCAGACAACCTTGGCTTGTTCCAGCAAGACCTCATGCAGAGGGTGGCCTTCCGGTCCTCTCCAATGATCCACAATTTCATCCTTCAAAAGCCTAAAATGGTATATTGCTTCATCTCTAATTGCTTTATCGAAACTAACATCAGGCTTCTCCTCAGAAGAAGTTATATCCAAAGCAACTTCTTTCTGGTGATCTCCTTGCAAATCCCCTTCAGTCTTCCTCTGTGAGGAGGCTTTGCCAGGAGAAGCCACTGGTTTCTGAAGACTACTGGAATACTCTGCAAAGCGAATACCCAAAAATGGATACAAGGCAGAAGTTGGCTTAGAGAATTTTCTGAGAAAATAAGTACCACGCAGCAATTTGT
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Task1_train_20547
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Mutation context: Chromosome 15, Gene NDUFAF1 (NADH:ubiquinone oxidoreductase complex assembly factor 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; not provided
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GACCAATCGTAAGACATCTTCCTCTCAAAAGCACCCTAAGATATTGAAAGTAAAGTTCATTGTACCTCATTCTCCATTATTAGCAAAATGTGAGTCATCACCAAGTCAGCATCATCAACAGGATGCACTAACCATTTTTCTGACTTTCTGCCCCATAAGAAGGCACATAAACCCAGTGATTATTATTTTAGCACAAAATACTGACATAGTTATATGTTTCTAAGGTAATGTTCAACACACAACTGGCCCAGGACAGTGTTTACATGGGGTAGGCACTCACCTGTGTTCAATGAATGGAAATGAATGTATTTCCTTTACCTGGTCGTATGGAGCAATGACTTTTTCTTTTCTTTTCTTTTCTTTTCTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTGCAAGCTCTGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGTACTATAGGCGCCCAAAACCACACCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCGCCCACCTTGGCCACCCAAAGTGTGGGGATTACAGGCATGAGCCACTGCGCCCGGCCTTTTTTTTTTTTTTTTTTTTTTGAGACAAAGTTTCGCTCTTGTTGCCCAGACTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTCTGCCTCCAGAGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTACCTGGAATTACAGGCATGCACCACCATGTCCAGCACTCTGGGAGGCCAAGGGTGGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGTGCACCAGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGAGGGCGGAAGTTGCAGTGAGCCGAGATCACGCCACTGCACTCTAGCCTGGGCGACAGAGCAAGACTCCGTTTCAAAAAAAAAAAAAGAAAGCCACAGGCTAACCCTACATCCACTCTACAAAACCCCTGGTCATTACAGAGGTTGTGGTCTTTTTTAGAGGAGATGAAAATCTCTCCAAAAATCTTTCAAATGTCTAACCTCTCAGGATTCCTGAAACATAACAATGCTCGTTCCTGGCCCAAAGCAATGCGCAGAAACAAGTTAACTCCTCCTCCTCAGAAACCACTTCCCCCTTGTGCTTCCACTTCACACTTGTGCCAATAGTTACTTATCCCCAGACACAGGTGAGGTGCCAAATATAACATGCCAGGTGTTTTCATTTACAGAAACAAAAGCTATCTTCTATAGTTTATGCTACAATGAAGTTCACCCCTGTTTACTAGAAAACGATGGCTCCTGGGCCTCACCTACCCTTGGAATCCTGGATATCATTGCACAGTACCCACTTCGGGTAGACTCCCCGTCCTGAGGCGCCTCAGAGCTCAGAGTTCCATATAGCAGTGCACTTTGGTTATTCTTGCCCATTTTCAAAAACACTTCACTTCTGCCTCCAATCGTCTTATCAGAAGTCACTGTCCACTTATCCAAATCTTCTTTCCCCCGGAATTGCCAGACAACCTTGGCTTGTTCCAGCAAGACCTCATGCAGAGGGTGGCCTTCCGGTCCTCTCCAATGATCCACAATTTCATCCTTCAAAAGCCTAAAATGGTATATTGCTTCATCTCTAATTGCTTTATCGAAACTAACATCAGGCTTCTCCTCAGAAGAAGTTATATCCAAAGCAACTTCTTTCTGGTGATCTCCTTGCAAATCCCCTTCAGTCTTCCTCTGTGAGGAGGCTTTGCCAGGAGAAGCCACTGGTTTCTGAAGACTACTGGAATACTCTGCAAAGCGAATACCCAAAAATGGATACAAGGCAGAAGTTGGCTTAGAGAATTTTCTGAGAAAATAAGTACCACGCAGCAATTTGTGAACCAAAGCCATGGTACAAAAAAATCAAAATGTAAGTTTCTTCCTGGGCTAGCAAGGGCCACCAAGAAGCTTCAGCAAATAGCCCAATTCTACCTATAACAGAAGAGACATTGAAGAATTATCAGCATAGCAATGAATGCATCACAATTTCAAATTCAACAGAAATCAGGTATTTTGAAGTTTGTTAACTTATTTGTTTACTATTATTATTATTATTATTTGAGACAAGGTCTTGCTCTGTGGCCCAGGCTGGGTACAGTGGCACAATCACAGCTCACTGTAGCCTCTACTTTCTGGGCTCAAATGATCCTCCCATCTCAGCCACCCAAGTAGCTGGGATTACAAGCACACACCACCATGCCCAGCTAATTTTTAAATTTTTTGTAGAAATGGATCTCCCTGGCCAGGCACGGTCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACGAGGTCAAGAGATAGAGACTGGGCCGGGCGCGGTGGCTGACGCCTGTAATCCCAGCACTTGGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAAATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATAGCGTCAACCCAGGAGGCAGAGCTTGCAGTGAGCGGAGATCCCGCCACTACACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCGGGAAAAAAAAAAAAAAAAAAATTGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAACTTAGCTGGGTGTGGTGGTGCGCACTTGTGGTCCCAGCTACTAAGGAGGCTGAGGCAAAAGAATTCCTTGAACCTGGGAGGAGGAGGCTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGCAACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAACAGAAAGAAAGAAAAAGAAATAGATCTCCCTGTGTTGCCCATGATGGTTTTGAACTCCTAGGATCCAGTGATTCTCCCCTCGGCTTCCCAAAGTGCTGGGCTGTAGGAATGATGCACTGTCCCCGGCCTTTTTTTTTTCTTTTCTTTTTATAAGAGACTGGGTCAGGCCAGGTGTGGTAGCTCACGCCTGTAATCTCAACACTTTGGGAGGCCGAGGCGGATGGATCACCTGAGGTAAGGAGTTCGAGACCAGCCTTGACAACATGGTGAAACCCCATCTCTACTAAAAATAATCCAGGCGTGGTGGCAGACGCCTGTAATCCCAGCTACTAGGGAGCCTTAAGCAGGAGAATCACTTGAACCCAGGAGGCAGGGATTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGACAAGAGCAAAATTCCATGTGAAAAAAAAAAAAAAAGAGACAGGGTCTCTTGCTCTGTCACCCAGGCTGCAGCGCCGTGGCAAGATCGATAACTCATTGTAGCCTTGAACTCCTGGGCCCTGGACTGAAATGATTCTCCCACCTCAGCCTCCAAGGTAGCTGAGACTACAGGTGCACACCACCATGCCCAGCTAATTTTTTTAAAAAATGTTGGCCGGGTGCCGTGCATCACACCTGTAATCCCAGCACTTTGGGAGTCCAAGGTGGACGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAAATGGTAAAACCCCATCTCTACTAAAAATACAGAAATTAGTTGGTCATGTTGGAGAGCGCCTGTAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGTGACAAAAGTGAAATTCCATCTCAAAAAAAATAAAAAAACCAAAAATTGTAGCCCGCCACAGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGTCTTAGGCAGGCAAATGACTTGTCGTCAGGAGTTGGAGACCAGCCTGCCCAACATGGTAAAACCCCGTCTCCATTAA
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GACCAATCGTAAGACATCTTCCTCTCAAAAGCACCCTAAGATATTGAAAGTAAAGTTCATTGTACCTCATTCTCCATTATTAGCAAAATGTGAGTCATCACCAAGTCAGCATCATCAACAGGATGCACTAACCATTTTTCTGACTTTCTGCCCCATAAGAAGGCACATAAACCCAGTGATTATTATTTTAGCACAAAATACTGACATAGTTATATGTTTCTAAGGTAATGTTCAACACACAACTGGCCCAGGACAGTGTTTACATGGGGTAGGCACTCACCTGTGTTCAATGAATGGAAATGAATGTATTTCCTTTACCTGGTCGTATGGAGCAATGACTTTTTCTTTTCTTTTCTTTTCTTTTCTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTGCAAGCTCTGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGTACTATAGGCGCCCAAAACCACACCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCGCCCACCTTGGCCACCCAAAGTGTGGGGATTACAGGCATGAGCCACTGCGCCCGGCCTTTTTTTTTTTTTTTTTTTTTTGAGACAAAGTTTCGCTCTTGTTGCCCAGACTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTCTGCCTCCAGAGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTACCTGGAATTACAGGCATGCACCACCATGTCCAGCACTCTGGGAGGCCAAGGGTGGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGTGCACCAGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGAGGGCGGAAGTTGCAGTGAGCCGAGATCACGCCACTGCACTCTAGCCTGGGCGACAGAGCAAGACTCCGTTTCAAAAAAAAAAAAAGAAAGCCACAGGCTAACCCTACATCCACTCTACAAAACCCCTGGTCATTACAGAGGTTGTGGTCTTTTTTAGAGGAGATGAAAATCTCTCCAAAAATCTTTCAAATGTCTAACCTCTCAGGATTCCTGAAACATAACAATGCTCGTTCCTGGCCCAAAGCAATGCGCAGAAACAAGTTAACTCCTCCTCCTCAGAAACCACTTCCCCCTTGTGCTTCCACTTCACACTTGTGCCAATAGTTACTTATCCCCAGACACAGGTGAGGTGCCAAATATAACATGCCAGGTGTTTTCATTTACAGAAACAAAAGCTATCTTCTATAGTTTATGCTACAATGAAGTTCACCCCTGTTTACTAGAAAACGATGGCTCCTGGGCCTCACCTACCCTTGGAATCCTGGATATCATTGCACAGTACCCACTTCGGGTAGACTCCCCGTCCTGAGGCGCCTCAGAGCTCAGAGTTCCATATAGCAGTGCACTTTGGTTATTCTTGCCCATTTTCAAAAACACTTCACTTCTGCCTCCAATCGTCTTATCAGAAGTCACTGTCCACTTATCCAAATCTTCTTTCCCCCGGAATTGCCAGACAACCTTGGCTTGTTCCAGCAAGACCTCATGCAGAGGGTGGCCTTCCGGTCCTCTCCAATGATCCACAATTTCATCCTTCAAAAGCCTAAAATGGTATATTGCTTCATCTCTAATTGCTTTATCGAAACTAACATCAGGCTTCTCCTCAGAAGAAGTTATATCCAAAGCAACTTCTTTCTGGTGATCTCCTTGCAAATCCCCTTCAGTCTTCCTCTGTGAGGAGGCTTTGCCAGGAGAAGCCACTGGTTTCTGAAGACTACTGGAATACTCTGCAAAGCGAATACCCAAAAATGGATACAAGGCAGAAGTTGGCTTAGAGAATTTTCTGAGAAAATAAGTACCACGCAGCAATTTGTGAACCAAAGCCGTGGTACAAAAAAATCAAAATGTAAGTTTCTTCCTGGGCTAGCAAGGGCCACCAAGAAGCTTCAGCAAATAGCCCAATTCTACCTATAACAGAAGAGACATTGAAGAATTATCAGCATAGCAATGAATGCATCACAATTTCAAATTCAACAGAAATCAGGTATTTTGAAGTTTGTTAACTTATTTGTTTACTATTATTATTATTATTATTTGAGACAAGGTCTTGCTCTGTGGCCCAGGCTGGGTACAGTGGCACAATCACAGCTCACTGTAGCCTCTACTTTCTGGGCTCAAATGATCCTCCCATCTCAGCCACCCAAGTAGCTGGGATTACAAGCACACACCACCATGCCCAGCTAATTTTTAAATTTTTTGTAGAAATGGATCTCCCTGGCCAGGCACGGTCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACGAGGTCAAGAGATAGAGACTGGGCCGGGCGCGGTGGCTGACGCCTGTAATCCCAGCACTTGGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAAATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATAGCGTCAACCCAGGAGGCAGAGCTTGCAGTGAGCGGAGATCCCGCCACTACACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCGGGAAAAAAAAAAAAAAAAAAATTGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAACTTAGCTGGGTGTGGTGGTGCGCACTTGTGGTCCCAGCTACTAAGGAGGCTGAGGCAAAAGAATTCCTTGAACCTGGGAGGAGGAGGCTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGCAACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAACAGAAAGAAAGAAAAAGAAATAGATCTCCCTGTGTTGCCCATGATGGTTTTGAACTCCTAGGATCCAGTGATTCTCCCCTCGGCTTCCCAAAGTGCTGGGCTGTAGGAATGATGCACTGTCCCCGGCCTTTTTTTTTTCTTTTCTTTTTATAAGAGACTGGGTCAGGCCAGGTGTGGTAGCTCACGCCTGTAATCTCAACACTTTGGGAGGCCGAGGCGGATGGATCACCTGAGGTAAGGAGTTCGAGACCAGCCTTGACAACATGGTGAAACCCCATCTCTACTAAAAATAATCCAGGCGTGGTGGCAGACGCCTGTAATCCCAGCTACTAGGGAGCCTTAAGCAGGAGAATCACTTGAACCCAGGAGGCAGGGATTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGACAAGAGCAAAATTCCATGTGAAAAAAAAAAAAAAAGAGACAGGGTCTCTTGCTCTGTCACCCAGGCTGCAGCGCCGTGGCAAGATCGATAACTCATTGTAGCCTTGAACTCCTGGGCCCTGGACTGAAATGATTCTCCCACCTCAGCCTCCAAGGTAGCTGAGACTACAGGTGCACACCACCATGCCCAGCTAATTTTTTTAAAAAATGTTGGCCGGGTGCCGTGCATCACACCTGTAATCCCAGCACTTTGGGAGTCCAAGGTGGACGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAAATGGTAAAACCCCATCTCTACTAAAAATACAGAAATTAGTTGGTCATGTTGGAGAGCGCCTGTAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGTGACAAAAGTGAAATTCCATCTCAAAAAAAATAAAAAAACCAAAAATTGTAGCCCGCCACAGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGTCTTAGGCAGGCAAATGACTTGTCGTCAGGAGTTGGAGACCAGCCTGCCCAACATGGTAAAACCCCGTCTCCATTAA
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Task1_train_20548
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A mutation on Chromosome 15 affecting MAPKBP1 (mitogen-activated protein kinase binding protein 1) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Nephronophthisis 20
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GAGTTTGAATGTTACAGGCTTCCCCAGTGTGCCCCATCCTTAGTTTTGCCTCGGTCATCTTGGACAAGTTATTGAATTTGACCAAGCCTCAGTTTCCTCACCTGTAAAATGGTGTACTTGATTCACCTAATTGTTCTAAGAATAAAATGAAATAATGTAAGTGGGAGACATAGAAGAGTGCCTGATATATAGTGGGTGCTTCCCCTTGGTCATGTTGAAGGGTATATACCAGTTATGTATGGCCTGTGACAGGCACTGGGCTAAGTCCTGGCCACCATTCCCTTTTTCGTCCCATTCCCTTCCATCTCCTTGGGTAGGCAGAGGACTGCTCCCGAATGGAGGTCTGATTGTGTTCCCTCGGCCTCTTCAGGTCTACCCCGAGGTGAAGGATAGTAACCAGGCCTGCCTGCCCCCCAGTTCCTTTATTACCTGCTCCTCAGACAACACCATCCGCCTGTGGAACACAGAGAGCTCCGGGGTGCATGGCTCCACCCTCCACCGAAACATCCTCAGCAGTGTGAGCCCTGAGGCTGTGGGGCCCCGCTTCACCCTCAGTGCCCCCATCCCCACAGCTATTGCACCTTGTTACTGGGAACTGGTCCCTAGGCCTTGGCCTTCCAGCCTTCATTTGGCTGTGCTCTGTGGTCCAAGGGTTTGTTTTGCTCAGCTTTCTTGCCCCTTGCAGCTGTACTGGTCAGGCCTGCCTCATCCACCTTTTCTAACCTGTTCCACTAGGACCTCATTAAAATCATCTATGTGGATGGGAACACCCAGGCCCTGCTGGACACAGAGCTGCCTGGAGGAGACAAAGCTGATGCATCCCTGTTGGATCCCCGCGTGGGCATCCGCTCGGTGTGTGTCAGCCCCAATGGACAGCATCTAGCATCAGGGGACCGTATGGGCACACTTAGGTAATGCCAGGCCCTGGGTGGGTACTGACTGCCTCTCATGGTGCAGAGTTGGGTATTTAGAACTTTAGGGAGGGTTTGGCTCAAAAAGATTGGGCAACAAGATACTTATTTACAAGGCAAAGATAATAACTTCACAATGAGTAAACCTAGCAGAAATCATCTTCACCAAGTGATCAAGGTTAACATCCTCATATCAACATCATTAAGCCCATGATAGGATGTACTAAGAAGGATGTGACAATGTTTCTGTGGTATTCTTACCAAAAATGCATAAACTCAATATAGGCGTGAGAAAACATCCGACAAACTCACATTGAGGTACATACCACAGAGTAACTGATCAATACTCTTCAAAAACGTCAAGATCATGAAAAGTAAGGAAAGACCAGAGAACTGTTACAGACCACAGAAGTCTAAGGAGAAGTAACTAAATGCAATTTGGATTCTGGATAGGATCTAGAGTCAAGAAAAAGGACATAGTAGGAAAACTGGTGAAATTTGAATAAGGTCTCTAATTAATAGTATTATACCAACATAAATTTCCTAGTTTTGATAATTGCACTATCGTTATGTAAGATGTTCACATTAGGGAAAGCTGGGTAAGGGAAATATAGACGCTCTCTGTTCTTTCAGCAACTTTTCTCTAAGCCTAAAAGTTCAAAAAAAGGAAAAAGGAGGAGAAAATGTAGCAGAGGAGGGGGCGTGAGTCCTTCCTGCGGCCTGGCCATGGCCTCTTCCCACCTCTCCTCATCTTTGCAGGGTGCACGAACTTCAGTCCCTGAGTGAGATGCTGAAGGTGGAGGCCCATGACTCTGAGATTCTGTGCCTGGAGTATTCTAAGCCAGACACAGGTTAGGAGAATGCCCGGAATGGCACAGGGCTCCTCCAGTCCTGCCGGTGCCACTTATATCTGTCCCGGCTCTTGGACGTGGGGTCGGTAATCTTTGGATCATTGGTGTCTTTGCTGGTTTAGAGGAAGACAGCTCTGTCCTTGCTCCATGGTTCACATGGCTTGGGGATATGGGGCTCAGTTCCCTTGGGGCTCTTTGCCAGGCCCAGATAAGGGCTGTTCAGGGCACTCATGGGCTGATGGAGTTCTTTCATCCCCAGGTCTGAAACTGCTAGCATCGGCGAGCCGGGACCGGCTGATCCATGTGCTGGATGCCGGGCGGGAGTACAGCCTACAGCAGACGCTGGACGAACACTCATCCTCCATCACTGCTGTTAAGTTTGCAGGTGCGGGCAGGGTGAATGAGACACATCCTGCCACTCTCACCCCTGCTGCCATCTGCCTCCCACCTCCATGAGAAGGGTCTGCCCATTGTGGGGGAGTGTTGGACAGCAGCTGGGAGGCCTGGAGCTGGTTGGGAAGATAGGTGGAACAGAGACTCTCAGTGCTGGGACTTGAGCCAACCAGGTTGGACTGAGGATAAGGAGACAGGAAAACCTGGGTTTCCAGGTTTAATTTAGTTGGTTTTCCCTGGCATGTAGAGTAGCTTGATGGGGGATCTCATGGAGGGAAGGTGGGAGGCAGGCTGCTCCCATGTGGTGAGAACAGTGGGAACAGCTGGGCTTCCCTCCTTCATAGCCAGTGATGGGCAAGTCCGCATGATCAGCTGTGGAGCAGACAAGAGCATCTACTTCCGCACTGCGCAGAAGGTGAGGGCGCTGGGCTTTCCTGAGAGGGGCGGGACAGGGCGGGGTCTGCCATTCCCTGCCTAAGGTTACAAGAGGTGAAGGGAGGCGCAAGTAGGGCTCTTGGGGCCTGGTGAGGCATTTGGGTGTGGGCCTGCCCACATGCTCCACCCCTGCAGTCTGGAGATGGAGTGCAGTTCACACGGACACACCACGTGGTGCGGAAGACGACCCTCTATGACATGGATGTGGAGCCCAGCTGGAAGTACACGGCTATCGGCTGCCAGGACCGAAATATTCGGTGGGCGTCCCCTCCTCAGACTCTGCCCACATTCCTTCATCTCCCTACGGGGTCAGCTCTGTGCAGCTAAGTTCCCACATCTGTCGTTCTGTACAGGACTTTGTACCCCCTTGAGCCTACAGTACTTTGCTTCACCCAAGAGGTGGTAGCCTGTTTGCTGCTGGGGGTAGCTCCCAGAGAGTGTAGACTGGGAGTGAAAGCTGGCATTTCCATCCCCCAGGCGTGTTCCACCTTCACCGCCTCCTCATGAGAAAGAGACTATGTTTCTTACAGGATATTTAACATCAGCAGTGGAAAGCAGAAGAAGCTGTTTAAAGGGTCACAGGGTGAGGACGGCACACTCATTAAGGTAAGGACCCAGAGGGGGTACTGGACAGGGGCTCGGGGACAGAGTGGTGCTGGGTGGGAGGGACTGGTACTTCCCATGTCCTCCAGCTGCACACCCTGCTACTCCTCAGGTGCAGACAGACCCCTCAGGGATCTACATTGCCACCAGCTGTTCTGACAAGAATCTCTCCATTTTTGACTTCTCCTCAGGCGAGTGCGTGGCCACCATGTTTGGCCACTCAGGTGAGTGTAGCCTGAATCCCCGAGTAGAAGCTGATACCTGCGTAAACCTGAGTGAGTTCCACCCCTGGAACTTCACTCTTCTATTAGTTTCTTGGGACCCGCAGAGCTACCTATCCCTACCCTGCAGCCAACCCCCGTGTCCACTGTTGGGATGGAGAGGACTTGGTTGGGAATTTAAGGTGGCTTATAGACCGTATTCTTTGTTCTTCACAGAGATTGTCACTGGCATGAAATTTAGTAATGATTGTAAACATCTCATCTCTGTGTCTGGGGACAGGTGAGCAGAAGCCAGCTTCCCTGAGAGGCAGATTCTTACTCTGCCACAGCACCCTGCCCTCCCCTCTCTCCATTTCAGTGATGTCTCTGGGAAGTGGGGTTAACAGGGATAGCTTTTGGCTGTGCTTGACCTGAAGTGGAGGGTGGCTCTGGTCTCCTTGCCATCCATGGATAAGGGGAACGAATGGCGCTAGCCATTCTACCTGCCCCTCCTTCAGCCAACTGTGTGGCTTTACCCCAGCTGCATATTTGTGTGGCGCCTGAGCTCTGAGATGACCATCAGCATGAGGCAGCGTCTGGCCGAGTTGCGCCAGCGTCAGCGGGGCGGCAAGCAGCAAGGACCATCCTCTCCCCAAAGGGCTTCTGGACCCAACCGGTGAGAACAGAATGTGGGCAAGTGATG
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GAGTTTGAATGTTACAGGCTTCCCCAGTGTGCCCCATCCTTAGTTTTGCCTCGGTCATCTTGGACAAGTTATTGAATTTGACCAAGCCTCAGTTTCCTCACCTGTAAAATGGTGTACTTGATTCACCTAATTGTTCTAAGAATAAAATGAAATAATGTAAGTGGGAGACATAGAAGAGTGCCTGATATATAGTGGGTGCTTCCCCTTGGTCATGTTGAAGGGTATATACCAGTTATGTATGGCCTGTGACAGGCACTGGGCTAAGTCCTGGCCACCATTCCCTTTTTCGTCCCATTCCCTTCCATCTCCTTGGGTAGGCAGAGGACTGCTCCCGAATGGAGGTCTGATTGTGTTCCCTCGGCCTCTTCAGGTCTACCCCGAGGTGAAGGATAGTAACCAGGCCTGCCTGCCCCCCAGTTCCTTTATTACCTGCTCCTCAGACAACACCATCCGCCTGTGGAACACAGAGAGCTCCGGGGTGCATGGCTCCACCCTCCACCGAAACATCCTCAGCAGTGTGAGCCCTGAGGCTGTGGGGCCCCGCTTCACCCTCAGTGCCCCCATCCCCACAGCTATTGCACCTTGTTACTGGGAACTGGTCCCTAGGCCTTGGCCTTCCAGCCTTCATTTGGCTGTGCTCTGTGGTCCAAGGGTTTGTTTTGCTCAGCTTTCTTGCCCCTTGCAGCTGTACTGGTCAGGCCTGCCTCATCCACCTTTTCTAACCTGTTCCACTAGGACCTCATTAAAATCATCTATGTGGATGGGAACACCCAGGCCCTGCTGGACACAGAGCTGCCTGGAGGAGACAAAGCTGATGCATCCCTGTTGGATCCCCGCGTGGGCATCCGCTCGGTGTGTGTCAGCCCCAATGGACAGCATCTAGCATCAGGGGACCGTATGGGCACACTTAGGTAATGCCAGGCCCTGGGTGGGTACTGACTGCCTCTCATGGTGCAGAGTTGGGTATTTAGAACTTTAGGGAGGGTTTGGCTCAAAAAGATTGGGCAACAAGATACTTATTTACAAGGCAAAGATAATAACTTCACAATGAGTAAACCTAGCAGAAATCATCTTCACCAAGTGATCAAGGTTAACATCCTCATATCAACATCATTAAGCCCATGATAGGATGTACTAAGAAGGATGTGACAATGTTTCTGTGGTATTCTTACCAAAAATGCATAAACTCAATATAGGCGTGAGAAAACATCCGACAAACTCACATTGAGGTACATACCACAGAGTAACTGATCAATACTCTTCAAAAACGTCAAGATCATGAAAAGTAAGGAAAGACCAGAGAACTGTTACAGACCACAGAAGTCTAAGGAGAAGTAACTAAATGCAATTTGGATTCTGGATAGGATCTAGAGTCAAGAAAAAGGACATAGTAGGAAAACTGGTGAAATTTGAATAAGGTCTCTAATTAATAGTATTATACCAACATAAATTTCCTAGTTTTGATAATTGCACTATCGTTATGTAAGATGTTCACATTAGGGAAAGCTGGGTAAGGGAAATATAGACGCTCTCTGTTCTTTCAGCAACTTTTCTCTAAGCCTAAAAGTTCAAAAAAAGGAAAAAGGAGGAGAAAATGTAGCAGAGGAGGGGGCGTGAGTCCTTCCTGCGGCCTGGCCATGGCCTCTTCCCACCTCTCCTCATCTTTGCAGGGTGCACGAACTTCAGTCCCTGAGTGAGATGCTGAAGGTGGAGGCCCATGACTCTGAGATTCTGTGCCTGGAGTATTCTAAGCCAGACACAGGTTAGGAGAATGCCCGGAATGGCACAGGGCTCCTCCAGTCCTGCCGGTGCCACTTATATCTGTCCCGGCTCTTGGACGTGGGGTCGGTAATCTTTGGATCATTGGTGTCTTTGCTGGTTTAGAGGAAGACAGCTCTGTCCTTGCTCCATGGTTCACATGGCTTGGGGATATGGGGCTCAGTTCCCTTGGGGCTCTTTGCCAGGCCCAGATAAGGGCTGTTCAGGGCACTCATGGGCTGATGGAGTTCTTTCATCCCCAGGTCTGAAACTGCTAGCATCGGCGAGCCAGGACCGGCTGATCCATGTGCTGGATGCCGGGCGGGAGTACAGCCTACAGCAGACGCTGGACGAACACTCATCCTCCATCACTGCTGTTAAGTTTGCAGGTGCGGGCAGGGTGAATGAGACACATCCTGCCACTCTCACCCCTGCTGCCATCTGCCTCCCACCTCCATGAGAAGGGTCTGCCCATTGTGGGGGAGTGTTGGACAGCAGCTGGGAGGCCTGGAGCTGGTTGGGAAGATAGGTGGAACAGAGACTCTCAGTGCTGGGACTTGAGCCAACCAGGTTGGACTGAGGATAAGGAGACAGGAAAACCTGGGTTTCCAGGTTTAATTTAGTTGGTTTTCCCTGGCATGTAGAGTAGCTTGATGGGGGATCTCATGGAGGGAAGGTGGGAGGCAGGCTGCTCCCATGTGGTGAGAACAGTGGGAACAGCTGGGCTTCCCTCCTTCATAGCCAGTGATGGGCAAGTCCGCATGATCAGCTGTGGAGCAGACAAGAGCATCTACTTCCGCACTGCGCAGAAGGTGAGGGCGCTGGGCTTTCCTGAGAGGGGCGGGACAGGGCGGGGTCTGCCATTCCCTGCCTAAGGTTACAAGAGGTGAAGGGAGGCGCAAGTAGGGCTCTTGGGGCCTGGTGAGGCATTTGGGTGTGGGCCTGCCCACATGCTCCACCCCTGCAGTCTGGAGATGGAGTGCAGTTCACACGGACACACCACGTGGTGCGGAAGACGACCCTCTATGACATGGATGTGGAGCCCAGCTGGAAGTACACGGCTATCGGCTGCCAGGACCGAAATATTCGGTGGGCGTCCCCTCCTCAGACTCTGCCCACATTCCTTCATCTCCCTACGGGGTCAGCTCTGTGCAGCTAAGTTCCCACATCTGTCGTTCTGTACAGGACTTTGTACCCCCTTGAGCCTACAGTACTTTGCTTCACCCAAGAGGTGGTAGCCTGTTTGCTGCTGGGGGTAGCTCCCAGAGAGTGTAGACTGGGAGTGAAAGCTGGCATTTCCATCCCCCAGGCGTGTTCCACCTTCACCGCCTCCTCATGAGAAAGAGACTATGTTTCTTACAGGATATTTAACATCAGCAGTGGAAAGCAGAAGAAGCTGTTTAAAGGGTCACAGGGTGAGGACGGCACACTCATTAAGGTAAGGACCCAGAGGGGGTACTGGACAGGGGCTCGGGGACAGAGTGGTGCTGGGTGGGAGGGACTGGTACTTCCCATGTCCTCCAGCTGCACACCCTGCTACTCCTCAGGTGCAGACAGACCCCTCAGGGATCTACATTGCCACCAGCTGTTCTGACAAGAATCTCTCCATTTTTGACTTCTCCTCAGGCGAGTGCGTGGCCACCATGTTTGGCCACTCAGGTGAGTGTAGCCTGAATCCCCGAGTAGAAGCTGATACCTGCGTAAACCTGAGTGAGTTCCACCCCTGGAACTTCACTCTTCTATTAGTTTCTTGGGACCCGCAGAGCTACCTATCCCTACCCTGCAGCCAACCCCCGTGTCCACTGTTGGGATGGAGAGGACTTGGTTGGGAATTTAAGGTGGCTTATAGACCGTATTCTTTGTTCTTCACAGAGATTGTCACTGGCATGAAATTTAGTAATGATTGTAAACATCTCATCTCTGTGTCTGGGGACAGGTGAGCAGAAGCCAGCTTCCCTGAGAGGCAGATTCTTACTCTGCCACAGCACCCTGCCCTCCCCTCTCTCCATTTCAGTGATGTCTCTGGGAAGTGGGGTTAACAGGGATAGCTTTTGGCTGTGCTTGACCTGAAGTGGAGGGTGGCTCTGGTCTCCTTGCCATCCATGGATAAGGGGAACGAATGGCGCTAGCCATTCTACCTGCCCCTCCTTCAGCCAACTGTGTGGCTTTACCCCAGCTGCATATTTGTGTGGCGCCTGAGCTCTGAGATGACCATCAGCATGAGGCAGCGTCTGGCCGAGTTGCGCCAGCGTCAGCGGGGCGGCAAGCAGCAAGGACCATCCTCTCCCCAAAGGGCTTCTGGACCCAACCGGTGAGAACAGAATGTGGGCAAGTGATG
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Task1_train_20549
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Here is a genetic alteration in CAPN3 (calpain 3) on Chromosome 15. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2A
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CAAAACCTAATAACAGAATGACTGTAATTGTACCTATTTTATAGGTGAGAAATCTGAGACAGAAAGGAAGAAATAACTCACCTAAAGTTACACAGGCACAGCCAATAAGGGGCCAACCTAGACTTTGAACCGAGGTGGTCAGTCACCAGAGACCACTGTCCTCTATTCTGCCTCTCCAAGACTAGTAAAAAGCCCTGGGCATTTTCTTGGAGGGACAGATGGCTAGGCTGATGGTTCCTGCAAGCCCAGACATAGAGTCCTTCAAAGCCGCAATCCCAGGGATCAGGAGGCTGATAGTACTCCCTATTTTACCTGTCACTTCCCACCTTCTTCCATAGCCTCTAATCTTGGATTATTGAGACTGGTCGCATGGGAACAGGCATGACTGCAGCCTAGGACATGCCTCCACTCTGCCATACTTGAAATGTGCTCATCTCCTTACAGCCCAGGGAGCAGCTATTGTGGGTAGAAGACAAGGTGGAGGCCAGGCAGGCACTTCCCTTCCCCAGAGCCACTTATGCTCTCATCTAAGAGCCCTGAAACCAGGTGTGACATCCCAGGAGTTGACAGACAGTCTGGTTCAGTATCTAATTCCAACTTCTGTCTCAGATGCCTAATGTGGCATGGCTGAATGAGTCAACATATAACCTGTACAGTAAGTCCTCACTTAACATCATTGATAGGTGCTTGTAAACTGTGACTTTAACGAAAACATACCGTGTGCTGTAGGGACTTAACTCTTGTTTATATCAGTTAGCCTGGTTTCACTATACAGTACATCATTTTGCTTAAAGTCACAGCTTACGAGAACCTATCGATGATGTTAAGTGAGGATTTTCTCTGCTCAGGTGCACTTTTTTTTTTTTTTAAGACGGAGTCTCTTTCTGTCACCTGGGCTGGAGTGCAGTGGCGTGATCTGGGTTCACTACAACCTCTGCCTCCTGGGTTCAAGCAATTCTTCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCGCCGCCACACCCGGCTTATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATTGTTGGCCATGCTGGTCTCGAACTCCTGACCTCATGTGATCCACCCGCCTCGGCCTCCCAAAGTGCAGAGATTAGAGACGTGAGCCACATGGCCCAGCAGGACCACTTTTTAGCAGATTCAGTCCCAGTGTTCATTTTGTGGATGGGGAGAGACAAGAGGTGGCAAGGTCAAGTGTGCAGGTAGAGACAGGGATTTTCTCAAATGAGGACTCTGCTGAGTAGCATTTTCCATGCAGACATTTCCAATGAGCGCTGACCCAAGAACATTCTAAAAAAGATACCAAATCTAACATTGAATAATGTTCTGATATCCTAAAATTTTAGGACTAAAAATCATGTTCTCTAAAATTCACAGAATATTTTTGTAGAATTCAGTACCTCCCGTTCACCCTAACTAGCTTTTTTGCAATATTGTTTTCCATTCATTTGATGGCCAGTAGTTGGGTGGTCTGTATAACTGCCTACTCAATAACATGTCAGCAGTTCTCAGCTTCTTTCCAGTGTTCACCTTACTCAGATACTCCCTTTTCATTTTCTGGCAACACCAGCACTTCATGGCAACAGAAATGTCCCTAGCCAGGTTCTCTCTCTACCATGCAGTCTCTCTTGCTCTCATACTCACAGTGTTTCTTCACATCTATTTTTAGTTTTCCTGGCTCAAGCATCTTCAGGCCACTGAAACACAACCCTCACTCTCTTTCTCTCTCCCTCTGGCATGCATGCTGCTGGTAGGAGACCCCCAAGTCAACATTGCTTCAGAAATCCTTTAGCACTCATTTCTCAGGAGAACTTATGGCTTCAGAATCACAGCTCGGTTTTTAAGATGGACATAACCTGTACGACCTTCTGATGGGCTTTCAACTTTGAACTGGATGTGGACACTTTTCTCTCAGATGACAGAATTACTCCAACTTCCCCTTTGCAGTTGCTTCCTTTCCTTGAAGGTAGCTGTATCTTATTTTCTTTAAAAAGCTTTTTCTTCCAAAGCCACTTGCCATGCCGACCGTCATTAGCGCATCTGTGGCTCCAAGGACAGCGGCTGAGCCCCGGTCCCCAGGGCCAGTTCCTCACCCGGCCCAGAGCAAGGCCACTGAGGCTGGGGGTGGAAACCCAAGTGGCATCTATTCAGCCATCATCAGCCGCAATTTTCCTATTATCGGAGTGAAAGAGAAGACATTCGAGCAACTTCACAAGAAATGTCTAGAAAAGAAAGTTCTTTATGTGGACCCTGAGTTCCCACCGGATGAGACCTCTCTCTTTTATAGCCAGAAGTTCCCCATCCAGTTCGTCTGGAAGAGACCTCCGGTGAGTAGCTTCCTGCTTGCTGGCTGGGTTTTCCCCCCACGGAGGAGTCCTCTCACTCAGCACCTCCGGCAGCTCAGCTGTGCACATGGGCACTGGGGGAAGGATCCTGGCAGCAGCTCTGCTGGGCTCTGTCTTTAAGTGTGAAGCAGGGAGGAGAGGAACAGGTCTCAGATATTTCACCAAATCTCAGCAAAATCCAGAGGGAGAGCGCAGGAGGTGGGGCTGATTCTTATGCTCTGGCTCTTTCTCTCTGAAAAAAAAAAAAAAATCTTGCTTTTTATAAAAGTGGGTGGAACTCAGTTTAATTCATCCTGTAAAAATAAATATTCCTTTCTCAGAACAAATTCCAGACAGCCCAGATGTACCTGTTCGTTTTAAATATTATTCATCTTTGTAAGATTATTTCAGTTTCTCTGGCTAAAATCATGATGTTATTCTTCTTTAATTTACCAATGGCCATATCTTTCTGAAACACAGAAACCCTAGAAAGAGAAGAGTCATAGGCAAGGAATATTTTTTCATGCATAAAATGTTGGGGTTAAAGAGAGAGAGACCTAGCAATCGCTTTTGTCCACCTACCTCACCTCATAAGTGAGGAGTCAAGGCACACTAGAGTGAAATATATCTAGTGGGCACATGACAGAGCCCGGATTAAAACTTTCTGTTTTAGGAAACTCTCCCAGCCTCTGGGTTTCATTTACAGTGATCGCCAGGAGGGAAATCACATTCCCCTGGCTCACCTCTCTGATCATCCCTCCAGTGTGACTCTTGTTCTTAATTCGAGAAATATTTATTGAGCATCTACTAGTGCCAGCACTGGGCAAGCAACTGGGGGGACAGCAGTGAGTAAGAAAGACCAAAATTCCAGCTGTCTTGGAACCTAGGGTCCTGAAGGGAAGATGGGCATTGAACAAGAGTGACATTGTCAGGAGACGATGTTCTGGGTGCCACAGGATCATGTGGCAAGGAGAGCTAACCTGGTCCAGGGAGACAAACCCTCTCTGAGGAAATGATGACAAGCTGAGACCCAATACTATTGATTAGCCATGGTTTTCTTTAACCTAAGGTGGGCCAGGCATGGTGGCTCATGCCTATAAACCCAGCATTTTGGAAGGCCCAGGCTGGAGGATTGCTTGAGCCCAAGAGTTAGAGACCAGCCTGGGCAACAGGGTGAAAACCTATCTCTTTTGTACTAAAAATTCAAAAAATTATCCAGGCATGGTGGCACATGCCTGTGGTCCTAGCTACTCAGAGGCTGAGGTGGGAAGATCACTTGAACTCGGGGAGTTGAGGCAGCAGTGAGCCGAGATCATGCCACTGCACTCCAGGCTGGGTGACAGGAGTGAGACCCAGTCTCAAACAACAACAATAACAACAACAAACCTGAGGTGGAGTACTAGACAACCCTGTATATTCCATAGGGGCTCTTCTTGGTTCTATGGTAAGGCCCATAACTGTCCTGAAGGCCTTCAGTTTAGAAGATAACACTACTCTGCTATCAGAGTAGTTGGACATGTCACAACCCCCTGCTGAAATATCTTCAGTGACATCCCTCTCTCGGCCCCCACTGCCTTCAGGACAAGTCCAAACTCCTTAGCCAAGCCATAGGCCCTTCTCAGCTGGTCCCTGCCTACCTGTCCAGGCCCATGTCCATCCTCTTTCCCCAGATCCTGACACACCAGCAGTGCTTGGACATTTAGCTGCTCTGTAGTTCCAAGTCTTCTCACACCGGAGGCCTT
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CAAAACCTAATAACAGAATGACTGTAATTGTACCTATTTTATAGGTGAGAAATCTGAGACAGAAAGGAAGAAATAACTCACCTAAAGTTACACAGGCACAGCCAATAAGGGGCCAACCTAGACTTTGAACCGAGGTGGTCAGTCACCAGAGACCACTGTCCTCTATTCTGCCTCTCCAAGACTAGTAAAAAGCCCTGGGCATTTTCTTGGAGGGACAGATGGCTAGGCTGATGGTTCCTGCAAGCCCAGACATAGAGTCCTTCAAAGCCGCAATCCCAGGGATCAGGAGGCTGATAGTACTCCCTATTTTACCTGTCACTTCCCACCTTCTTCCATAGCCTCTAATCTTGGATTATTGAGACTGGTCGCATGGGAACAGGCATGACTGCAGCCTAGGACATGCCTCCACTCTGCCATACTTGAAATGTGCTCATCTCCTTACAGCCCAGGGAGCAGCTATTGTGGGTAGAAGACAAGGTGGAGGCCAGGCAGGCACTTCCCTTCCCCAGAGCCACTTATGCTCTCATCTAAGAGCCCTGAAACCAGGTGTGACATCCCAGGAGTTGACAGACAGTCTGGTTCAGTATCTAATTCCAACTTCTGTCTCAGATGCCTAATGTGGCATGGCTGAATGAGTCAACATATAACCTGTACAGTAAGTCCTCACTTAACATCATTGATAGGTGCTTGTAAACTGTGACTTTAACGAAAACATACCGTGTGCTGTAGGGACTTAACTCTTGTTTATATCAGTTAGCCTGGTTTCACTATACAGTACATCATTTTGCTTAAAGTCACAGCTTACGAGAACCTATCGATGATGTTAAGTGAGGATTTTCTCTGCTCAGGTGCACTTTTTTTTTTTTTTAAGACGGAGTCTCTTTCTGTCACCTGGGCTGGAGTGCAGTGGCGTGATCTGGGTTCACTACAACCTCTGCCTCCTGGGTTCAAGCAATTCTTCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCGCCGCCACACCCGGCTTATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATTGTTGGCCATGCTGGTCTCGAACTCCTGACCTCATGTGATCCACCCGCCTCGGCCTCCCAAAGTGCAGAGATTAGAGACGTGAGCCACATGGCCCAGCAGGACCACTTTTTAGCAGATTCAGTCCCAGTGTTCATTTTGTGGATGGGGAGAGACAAGAGGTGGCAAGGTCAAGTGTGCAGGTAGAGACAGGGATTTTCTCAAATGAGGACTCTGCTGAGTAGCATTTTCCATGCAGACATTTCCAATGAGCGCTGACCCAAGAACATTCTAAAAAAGATACCAAATCTAACATTGAATAATGTTCTGATATCCTAAAATTTTAGGACTAAAAATCATGTTCTCTAAAATTCACAGAATATTTTTGTAGAATTCAGTACCTCCCGTTCACCCTAACTAGCTTTTTTGCAATATTGTTTTCCATTCATTTGATGGCCAGTAGTTGGGTGGTCTGTATAACTGCCTACTCAATAACATGTCAGCAGTTCTCAGCTTCTTTCCAGTGTTCACCTTACTCAGATACTCCCTTTTCATTTTCTGGCAACACCAGCACTTCATGGCAACAGAAATGTCCCTAGCCAGGTTCTCTCTCTACCATGCAGTCTCTCTTGCTCTCATACTCACAGTGTTTCTTCACATCTATTTTTAGTTTTCCTGGCTCAAGCATCTTCAGGCCACTGAAACACAACCCTCACTCTCTTTCTCTCTCCCTCTGGCATGCATGCTGCTGGTAGGAGACCCCCAAGTCAACATTGCTTCAGAAATCCTTTAGCACTCATTTCTCAGGAGAACTTATGGCTTCAGAATCACAGCTCGGTTTTTAAGATGGACATAACCTGTACGACCTTCTGATGGGCTTTCAACTTTGAACTGGATGTGGACACTTTTCTCTCAGATGACAGAATTACTCCAACTTCCCCTTTGCAGTTGCTTCCTTTCCTTGAAGGTAGCTGTATCTTATTTTCTTTAAAAAGCTTTTTCTTCCAAAGCCACTTGCCGTGCCGACCGTCATTAGCGCATCTGTGGCTCCAAGGACAGCGGCTGAGCCCCGGTCCCCAGGGCCAGTTCCTCACCCGGCCCAGAGCAAGGCCACTGAGGCTGGGGGTGGAAACCCAAGTGGCATCTATTCAGCCATCATCAGCCGCAATTTTCCTATTATCGGAGTGAAAGAGAAGACATTCGAGCAACTTCACAAGAAATGTCTAGAAAAGAAAGTTCTTTATGTGGACCCTGAGTTCCCACCGGATGAGACCTCTCTCTTTTATAGCCAGAAGTTCCCCATCCAGTTCGTCTGGAAGAGACCTCCGGTGAGTAGCTTCCTGCTTGCTGGCTGGGTTTTCCCCCCACGGAGGAGTCCTCTCACTCAGCACCTCCGGCAGCTCAGCTGTGCACATGGGCACTGGGGGAAGGATCCTGGCAGCAGCTCTGCTGGGCTCTGTCTTTAAGTGTGAAGCAGGGAGGAGAGGAACAGGTCTCAGATATTTCACCAAATCTCAGCAAAATCCAGAGGGAGAGCGCAGGAGGTGGGGCTGATTCTTATGCTCTGGCTCTTTCTCTCTGAAAAAAAAAAAAAAATCTTGCTTTTTATAAAAGTGGGTGGAACTCAGTTTAATTCATCCTGTAAAAATAAATATTCCTTTCTCAGAACAAATTCCAGACAGCCCAGATGTACCTGTTCGTTTTAAATATTATTCATCTTTGTAAGATTATTTCAGTTTCTCTGGCTAAAATCATGATGTTATTCTTCTTTAATTTACCAATGGCCATATCTTTCTGAAACACAGAAACCCTAGAAAGAGAAGAGTCATAGGCAAGGAATATTTTTTCATGCATAAAATGTTGGGGTTAAAGAGAGAGAGACCTAGCAATCGCTTTTGTCCACCTACCTCACCTCATAAGTGAGGAGTCAAGGCACACTAGAGTGAAATATATCTAGTGGGCACATGACAGAGCCCGGATTAAAACTTTCTGTTTTAGGAAACTCTCCCAGCCTCTGGGTTTCATTTACAGTGATCGCCAGGAGGGAAATCACATTCCCCTGGCTCACCTCTCTGATCATCCCTCCAGTGTGACTCTTGTTCTTAATTCGAGAAATATTTATTGAGCATCTACTAGTGCCAGCACTGGGCAAGCAACTGGGGGGACAGCAGTGAGTAAGAAAGACCAAAATTCCAGCTGTCTTGGAACCTAGGGTCCTGAAGGGAAGATGGGCATTGAACAAGAGTGACATTGTCAGGAGACGATGTTCTGGGTGCCACAGGATCATGTGGCAAGGAGAGCTAACCTGGTCCAGGGAGACAAACCCTCTCTGAGGAAATGATGACAAGCTGAGACCCAATACTATTGATTAGCCATGGTTTTCTTTAACCTAAGGTGGGCCAGGCATGGTGGCTCATGCCTATAAACCCAGCATTTTGGAAGGCCCAGGCTGGAGGATTGCTTGAGCCCAAGAGTTAGAGACCAGCCTGGGCAACAGGGTGAAAACCTATCTCTTTTGTACTAAAAATTCAAAAAATTATCCAGGCATGGTGGCACATGCCTGTGGTCCTAGCTACTCAGAGGCTGAGGTGGGAAGATCACTTGAACTCGGGGAGTTGAGGCAGCAGTGAGCCGAGATCATGCCACTGCACTCCAGGCTGGGTGACAGGAGTGAGACCCAGTCTCAAACAACAACAATAACAACAACAAACCTGAGGTGGAGTACTAGACAACCCTGTATATTCCATAGGGGCTCTTCTTGGTTCTATGGTAAGGCCCATAACTGTCCTGAAGGCCTTCAGTTTAGAAGATAACACTACTCTGCTATCAGAGTAGTTGGACATGTCACAACCCCCTGCTGAAATATCTTCAGTGACATCCCTCTCTCGGCCCCCACTGCCTTCAGGACAAGTCCAAACTCCTTAGCCAAGCCATAGGCCCTTCTCAGCTGGTCCCTGCCTACCTGTCCAGGCCCATGTCCATCCTCTTTCCCCAGATCCTGACACACCAGCAGTGCTTGGACATTTAGCTGCTCTGTAGTTCCAAGTCTTCTCACACCGGAGGCCTT
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Task1_train_20550
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This mutation is located in gene CAPN3 (calpain 3) on Chromosome 15. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2A
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AAACCTAATAACAGAATGACTGTAATTGTACCTATTTTATAGGTGAGAAATCTGAGACAGAAAGGAAGAAATAACTCACCTAAAGTTACACAGGCACAGCCAATAAGGGGCCAACCTAGACTTTGAACCGAGGTGGTCAGTCACCAGAGACCACTGTCCTCTATTCTGCCTCTCCAAGACTAGTAAAAAGCCCTGGGCATTTTCTTGGAGGGACAGATGGCTAGGCTGATGGTTCCTGCAAGCCCAGACATAGAGTCCTTCAAAGCCGCAATCCCAGGGATCAGGAGGCTGATAGTACTCCCTATTTTACCTGTCACTTCCCACCTTCTTCCATAGCCTCTAATCTTGGATTATTGAGACTGGTCGCATGGGAACAGGCATGACTGCAGCCTAGGACATGCCTCCACTCTGCCATACTTGAAATGTGCTCATCTCCTTACAGCCCAGGGAGCAGCTATTGTGGGTAGAAGACAAGGTGGAGGCCAGGCAGGCACTTCCCTTCCCCAGAGCCACTTATGCTCTCATCTAAGAGCCCTGAAACCAGGTGTGACATCCCAGGAGTTGACAGACAGTCTGGTTCAGTATCTAATTCCAACTTCTGTCTCAGATGCCTAATGTGGCATGGCTGAATGAGTCAACATATAACCTGTACAGTAAGTCCTCACTTAACATCATTGATAGGTGCTTGTAAACTGTGACTTTAACGAAAACATACCGTGTGCTGTAGGGACTTAACTCTTGTTTATATCAGTTAGCCTGGTTTCACTATACAGTACATCATTTTGCTTAAAGTCACAGCTTACGAGAACCTATCGATGATGTTAAGTGAGGATTTTCTCTGCTCAGGTGCACTTTTTTTTTTTTTTAAGACGGAGTCTCTTTCTGTCACCTGGGCTGGAGTGCAGTGGCGTGATCTGGGTTCACTACAACCTCTGCCTCCTGGGTTCAAGCAATTCTTCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCGCCGCCACACCCGGCTTATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATTGTTGGCCATGCTGGTCTCGAACTCCTGACCTCATGTGATCCACCCGCCTCGGCCTCCCAAAGTGCAGAGATTAGAGACGTGAGCCACATGGCCCAGCAGGACCACTTTTTAGCAGATTCAGTCCCAGTGTTCATTTTGTGGATGGGGAGAGACAAGAGGTGGCAAGGTCAAGTGTGCAGGTAGAGACAGGGATTTTCTCAAATGAGGACTCTGCTGAGTAGCATTTTCCATGCAGACATTTCCAATGAGCGCTGACCCAAGAACATTCTAAAAAAGATACCAAATCTAACATTGAATAATGTTCTGATATCCTAAAATTTTAGGACTAAAAATCATGTTCTCTAAAATTCACAGAATATTTTTGTAGAATTCAGTACCTCCCGTTCACCCTAACTAGCTTTTTTGCAATATTGTTTTCCATTCATTTGATGGCCAGTAGTTGGGTGGTCTGTATAACTGCCTACTCAATAACATGTCAGCAGTTCTCAGCTTCTTTCCAGTGTTCACCTTACTCAGATACTCCCTTTTCATTTTCTGGCAACACCAGCACTTCATGGCAACAGAAATGTCCCTAGCCAGGTTCTCTCTCTACCATGCAGTCTCTCTTGCTCTCATACTCACAGTGTTTCTTCACATCTATTTTTAGTTTTCCTGGCTCAAGCATCTTCAGGCCACTGAAACACAACCCTCACTCTCTTTCTCTCTCCCTCTGGCATGCATGCTGCTGGTAGGAGACCCCCAAGTCAACATTGCTTCAGAAATCCTTTAGCACTCATTTCTCAGGAGAACTTATGGCTTCAGAATCACAGCTCGGTTTTTAAGATGGACATAACCTGTACGACCTTCTGATGGGCTTTCAACTTTGAACTGGATGTGGACACTTTTCTCTCAGATGACAGAATTACTCCAACTTCCCCTTTGCAGTTGCTTCCTTTCCTTGAAGGTAGCTGTATCTTATTTTCTTTAAAAAGCTTTTTCTTCCAAAGCCACTTGCCATGCCGACCGTCATTAGCGCATCTGTGGCTCCAAGGACAGCGGCTGAGCCCCGGTCCCCAGGGCCAGTTCCTCACCCGGCCCAGAGCAAGGCCACTGAGGCTGGGGGTGGAAACCCAAGTGGCATCTATTCAGCCATCATCAGCCGCAATTTTCCTATTATCGGAGTGAAAGAGAAGACATTCGAGCAACTTCACAAGAAATGTCTAGAAAAGAAAGTTCTTTATGTGGACCCTGAGTTCCCACCGGATGAGACCTCTCTCTTTTATAGCCAGAAGTTCCCCATCCAGTTCGTCTGGAAGAGACCTCCGGTGAGTAGCTTCCTGCTTGCTGGCTGGGTTTTCCCCCCACGGAGGAGTCCTCTCACTCAGCACCTCCGGCAGCTCAGCTGTGCACATGGGCACTGGGGGAAGGATCCTGGCAGCAGCTCTGCTGGGCTCTGTCTTTAAGTGTGAAGCAGGGAGGAGAGGAACAGGTCTCAGATATTTCACCAAATCTCAGCAAAATCCAGAGGGAGAGCGCAGGAGGTGGGGCTGATTCTTATGCTCTGGCTCTTTCTCTCTGAAAAAAAAAAAAAAATCTTGCTTTTTATAAAAGTGGGTGGAACTCAGTTTAATTCATCCTGTAAAAATAAATATTCCTTTCTCAGAACAAATTCCAGACAGCCCAGATGTACCTGTTCGTTTTAAATATTATTCATCTTTGTAAGATTATTTCAGTTTCTCTGGCTAAAATCATGATGTTATTCTTCTTTAATTTACCAATGGCCATATCTTTCTGAAACACAGAAACCCTAGAAAGAGAAGAGTCATAGGCAAGGAATATTTTTTCATGCATAAAATGTTGGGGTTAAAGAGAGAGAGACCTAGCAATCGCTTTTGTCCACCTACCTCACCTCATAAGTGAGGAGTCAAGGCACACTAGAGTGAAATATATCTAGTGGGCACATGACAGAGCCCGGATTAAAACTTTCTGTTTTAGGAAACTCTCCCAGCCTCTGGGTTTCATTTACAGTGATCGCCAGGAGGGAAATCACATTCCCCTGGCTCACCTCTCTGATCATCCCTCCAGTGTGACTCTTGTTCTTAATTCGAGAAATATTTATTGAGCATCTACTAGTGCCAGCACTGGGCAAGCAACTGGGGGGACAGCAGTGAGTAAGAAAGACCAAAATTCCAGCTGTCTTGGAACCTAGGGTCCTGAAGGGAAGATGGGCATTGAACAAGAGTGACATTGTCAGGAGACGATGTTCTGGGTGCCACAGGATCATGTGGCAAGGAGAGCTAACCTGGTCCAGGGAGACAAACCCTCTCTGAGGAAATGATGACAAGCTGAGACCCAATACTATTGATTAGCCATGGTTTTCTTTAACCTAAGGTGGGCCAGGCATGGTGGCTCATGCCTATAAACCCAGCATTTTGGAAGGCCCAGGCTGGAGGATTGCTTGAGCCCAAGAGTTAGAGACCAGCCTGGGCAACAGGGTGAAAACCTATCTCTTTTGTACTAAAAATTCAAAAAATTATCCAGGCATGGTGGCACATGCCTGTGGTCCTAGCTACTCAGAGGCTGAGGTGGGAAGATCACTTGAACTCGGGGAGTTGAGGCAGCAGTGAGCCGAGATCATGCCACTGCACTCCAGGCTGGGTGACAGGAGTGAGACCCAGTCTCAAACAACAACAATAACAACAACAAACCTGAGGTGGAGTACTAGACAACCCTGTATATTCCATAGGGGCTCTTCTTGGTTCTATGGTAAGGCCCATAACTGTCCTGAAGGCCTTCAGTTTAGAAGATAACACTACTCTGCTATCAGAGTAGTTGGACATGTCACAACCCCCTGCTGAAATATCTTCAGTGACATCCCTCTCTCGGCCCCCACTGCCTTCAGGACAAGTCCAAACTCCTTAGCCAAGCCATAGGCCCTTCTCAGCTGGTCCCTGCCTACCTGTCCAGGCCCATGTCCATCCTCTTTCCCCAGATCCTGACACACCAGCAGTGCTTGGACATTTAGCTGCTCTGTAGTTCCAAGTCTTCTCACACCGGAGGCCTTTG
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AAACCTAATAACAGAATGACTGTAATTGTACCTATTTTATAGGTGAGAAATCTGAGACAGAAAGGAAGAAATAACTCACCTAAAGTTACACAGGCACAGCCAATAAGGGGCCAACCTAGACTTTGAACCGAGGTGGTCAGTCACCAGAGACCACTGTCCTCTATTCTGCCTCTCCAAGACTAGTAAAAAGCCCTGGGCATTTTCTTGGAGGGACAGATGGCTAGGCTGATGGTTCCTGCAAGCCCAGACATAGAGTCCTTCAAAGCCGCAATCCCAGGGATCAGGAGGCTGATAGTACTCCCTATTTTACCTGTCACTTCCCACCTTCTTCCATAGCCTCTAATCTTGGATTATTGAGACTGGTCGCATGGGAACAGGCATGACTGCAGCCTAGGACATGCCTCCACTCTGCCATACTTGAAATGTGCTCATCTCCTTACAGCCCAGGGAGCAGCTATTGTGGGTAGAAGACAAGGTGGAGGCCAGGCAGGCACTTCCCTTCCCCAGAGCCACTTATGCTCTCATCTAAGAGCCCTGAAACCAGGTGTGACATCCCAGGAGTTGACAGACAGTCTGGTTCAGTATCTAATTCCAACTTCTGTCTCAGATGCCTAATGTGGCATGGCTGAATGAGTCAACATATAACCTGTACAGTAAGTCCTCACTTAACATCATTGATAGGTGCTTGTAAACTGTGACTTTAACGAAAACATACCGTGTGCTGTAGGGACTTAACTCTTGTTTATATCAGTTAGCCTGGTTTCACTATACAGTACATCATTTTGCTTAAAGTCACAGCTTACGAGAACCTATCGATGATGTTAAGTGAGGATTTTCTCTGCTCAGGTGCACTTTTTTTTTTTTTTAAGACGGAGTCTCTTTCTGTCACCTGGGCTGGAGTGCAGTGGCGTGATCTGGGTTCACTACAACCTCTGCCTCCTGGGTTCAAGCAATTCTTCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCGCCGCCACACCCGGCTTATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATTGTTGGCCATGCTGGTCTCGAACTCCTGACCTCATGTGATCCACCCGCCTCGGCCTCCCAAAGTGCAGAGATTAGAGACGTGAGCCACATGGCCCAGCAGGACCACTTTTTAGCAGATTCAGTCCCAGTGTTCATTTTGTGGATGGGGAGAGACAAGAGGTGGCAAGGTCAAGTGTGCAGGTAGAGACAGGGATTTTCTCAAATGAGGACTCTGCTGAGTAGCATTTTCCATGCAGACATTTCCAATGAGCGCTGACCCAAGAACATTCTAAAAAAGATACCAAATCTAACATTGAATAATGTTCTGATATCCTAAAATTTTAGGACTAAAAATCATGTTCTCTAAAATTCACAGAATATTTTTGTAGAATTCAGTACCTCCCGTTCACCCTAACTAGCTTTTTTGCAATATTGTTTTCCATTCATTTGATGGCCAGTAGTTGGGTGGTCTGTATAACTGCCTACTCAATAACATGTCAGCAGTTCTCAGCTTCTTTCCAGTGTTCACCTTACTCAGATACTCCCTTTTCATTTTCTGGCAACACCAGCACTTCATGGCAACAGAAATGTCCCTAGCCAGGTTCTCTCTCTACCATGCAGTCTCTCTTGCTCTCATACTCACAGTGTTTCTTCACATCTATTTTTAGTTTTCCTGGCTCAAGCATCTTCAGGCCACTGAAACACAACCCTCACTCTCTTTCTCTCTCCCTCTGGCATGCATGCTGCTGGTAGGAGACCCCCAAGTCAACATTGCTTCAGAAATCCTTTAGCACTCATTTCTCAGGAGAACTTATGGCTTCAGAATCACAGCTCGGTTTTTAAGATGGACATAACCTGTACGACCTTCTGATGGGCTTTCAACTTTGAACTGGATGTGGACACTTTTCTCTCAGATGACAGAATTACTCCAACTTCCCCTTTGCAGTTGCTTCCTTTCCTTGAAGGTAGCTGTATCTTATTTTCTTTAAAAAGCTTTTTCTTCCAAAGCCACTTGCCATTCCGACCGTCATTAGCGCATCTGTGGCTCCAAGGACAGCGGCTGAGCCCCGGTCCCCAGGGCCAGTTCCTCACCCGGCCCAGAGCAAGGCCACTGAGGCTGGGGGTGGAAACCCAAGTGGCATCTATTCAGCCATCATCAGCCGCAATTTTCCTATTATCGGAGTGAAAGAGAAGACATTCGAGCAACTTCACAAGAAATGTCTAGAAAAGAAAGTTCTTTATGTGGACCCTGAGTTCCCACCGGATGAGACCTCTCTCTTTTATAGCCAGAAGTTCCCCATCCAGTTCGTCTGGAAGAGACCTCCGGTGAGTAGCTTCCTGCTTGCTGGCTGGGTTTTCCCCCCACGGAGGAGTCCTCTCACTCAGCACCTCCGGCAGCTCAGCTGTGCACATGGGCACTGGGGGAAGGATCCTGGCAGCAGCTCTGCTGGGCTCTGTCTTTAAGTGTGAAGCAGGGAGGAGAGGAACAGGTCTCAGATATTTCACCAAATCTCAGCAAAATCCAGAGGGAGAGCGCAGGAGGTGGGGCTGATTCTTATGCTCTGGCTCTTTCTCTCTGAAAAAAAAAAAAAAATCTTGCTTTTTATAAAAGTGGGTGGAACTCAGTTTAATTCATCCTGTAAAAATAAATATTCCTTTCTCAGAACAAATTCCAGACAGCCCAGATGTACCTGTTCGTTTTAAATATTATTCATCTTTGTAAGATTATTTCAGTTTCTCTGGCTAAAATCATGATGTTATTCTTCTTTAATTTACCAATGGCCATATCTTTCTGAAACACAGAAACCCTAGAAAGAGAAGAGTCATAGGCAAGGAATATTTTTTCATGCATAAAATGTTGGGGTTAAAGAGAGAGAGACCTAGCAATCGCTTTTGTCCACCTACCTCACCTCATAAGTGAGGAGTCAAGGCACACTAGAGTGAAATATATCTAGTGGGCACATGACAGAGCCCGGATTAAAACTTTCTGTTTTAGGAAACTCTCCCAGCCTCTGGGTTTCATTTACAGTGATCGCCAGGAGGGAAATCACATTCCCCTGGCTCACCTCTCTGATCATCCCTCCAGTGTGACTCTTGTTCTTAATTCGAGAAATATTTATTGAGCATCTACTAGTGCCAGCACTGGGCAAGCAACTGGGGGGACAGCAGTGAGTAAGAAAGACCAAAATTCCAGCTGTCTTGGAACCTAGGGTCCTGAAGGGAAGATGGGCATTGAACAAGAGTGACATTGTCAGGAGACGATGTTCTGGGTGCCACAGGATCATGTGGCAAGGAGAGCTAACCTGGTCCAGGGAGACAAACCCTCTCTGAGGAAATGATGACAAGCTGAGACCCAATACTATTGATTAGCCATGGTTTTCTTTAACCTAAGGTGGGCCAGGCATGGTGGCTCATGCCTATAAACCCAGCATTTTGGAAGGCCCAGGCTGGAGGATTGCTTGAGCCCAAGAGTTAGAGACCAGCCTGGGCAACAGGGTGAAAACCTATCTCTTTTGTACTAAAAATTCAAAAAATTATCCAGGCATGGTGGCACATGCCTGTGGTCCTAGCTACTCAGAGGCTGAGGTGGGAAGATCACTTGAACTCGGGGAGTTGAGGCAGCAGTGAGCCGAGATCATGCCACTGCACTCCAGGCTGGGTGACAGGAGTGAGACCCAGTCTCAAACAACAACAATAACAACAACAAACCTGAGGTGGAGTACTAGACAACCCTGTATATTCCATAGGGGCTCTTCTTGGTTCTATGGTAAGGCCCATAACTGTCCTGAAGGCCTTCAGTTTAGAAGATAACACTACTCTGCTATCAGAGTAGTTGGACATGTCACAACCCCCTGCTGAAATATCTTCAGTGACATCCCTCTCTCGGCCCCCACTGCCTTCAGGACAAGTCCAAACTCCTTAGCCAAGCCATAGGCCCTTCTCAGCTGGTCCCTGCCTACCTGTCCAGGCCCATGTCCATCCTCTTTCCCCAGATCCTGACACACCAGCAGTGCTTGGACATTTAGCTGCTCTGTAGTTCCAAGTCTTCTCACACCGGAGGCCTTTG
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Task1_train_20551
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A variant on Chromosome 15 in gene CAPN3 (calpain 3) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2A
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GTCCTTCAAAGCCGCAATCCCAGGGATCAGGAGGCTGATAGTACTCCCTATTTTACCTGTCACTTCCCACCTTCTTCCATAGCCTCTAATCTTGGATTATTGAGACTGGTCGCATGGGAACAGGCATGACTGCAGCCTAGGACATGCCTCCACTCTGCCATACTTGAAATGTGCTCATCTCCTTACAGCCCAGGGAGCAGCTATTGTGGGTAGAAGACAAGGTGGAGGCCAGGCAGGCACTTCCCTTCCCCAGAGCCACTTATGCTCTCATCTAAGAGCCCTGAAACCAGGTGTGACATCCCAGGAGTTGACAGACAGTCTGGTTCAGTATCTAATTCCAACTTCTGTCTCAGATGCCTAATGTGGCATGGCTGAATGAGTCAACATATAACCTGTACAGTAAGTCCTCACTTAACATCATTGATAGGTGCTTGTAAACTGTGACTTTAACGAAAACATACCGTGTGCTGTAGGGACTTAACTCTTGTTTATATCAGTTAGCCTGGTTTCACTATACAGTACATCATTTTGCTTAAAGTCACAGCTTACGAGAACCTATCGATGATGTTAAGTGAGGATTTTCTCTGCTCAGGTGCACTTTTTTTTTTTTTTAAGACGGAGTCTCTTTCTGTCACCTGGGCTGGAGTGCAGTGGCGTGATCTGGGTTCACTACAACCTCTGCCTCCTGGGTTCAAGCAATTCTTCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCGCCGCCACACCCGGCTTATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATTGTTGGCCATGCTGGTCTCGAACTCCTGACCTCATGTGATCCACCCGCCTCGGCCTCCCAAAGTGCAGAGATTAGAGACGTGAGCCACATGGCCCAGCAGGACCACTTTTTAGCAGATTCAGTCCCAGTGTTCATTTTGTGGATGGGGAGAGACAAGAGGTGGCAAGGTCAAGTGTGCAGGTAGAGACAGGGATTTTCTCAAATGAGGACTCTGCTGAGTAGCATTTTCCATGCAGACATTTCCAATGAGCGCTGACCCAAGAACATTCTAAAAAAGATACCAAATCTAACATTGAATAATGTTCTGATATCCTAAAATTTTAGGACTAAAAATCATGTTCTCTAAAATTCACAGAATATTTTTGTAGAATTCAGTACCTCCCGTTCACCCTAACTAGCTTTTTTGCAATATTGTTTTCCATTCATTTGATGGCCAGTAGTTGGGTGGTCTGTATAACTGCCTACTCAATAACATGTCAGCAGTTCTCAGCTTCTTTCCAGTGTTCACCTTACTCAGATACTCCCTTTTCATTTTCTGGCAACACCAGCACTTCATGGCAACAGAAATGTCCCTAGCCAGGTTCTCTCTCTACCATGCAGTCTCTCTTGCTCTCATACTCACAGTGTTTCTTCACATCTATTTTTAGTTTTCCTGGCTCAAGCATCTTCAGGCCACTGAAACACAACCCTCACTCTCTTTCTCTCTCCCTCTGGCATGCATGCTGCTGGTAGGAGACCCCCAAGTCAACATTGCTTCAGAAATCCTTTAGCACTCATTTCTCAGGAGAACTTATGGCTTCAGAATCACAGCTCGGTTTTTAAGATGGACATAACCTGTACGACCTTCTGATGGGCTTTCAACTTTGAACTGGATGTGGACACTTTTCTCTCAGATGACAGAATTACTCCAACTTCCCCTTTGCAGTTGCTTCCTTTCCTTGAAGGTAGCTGTATCTTATTTTCTTTAAAAAGCTTTTTCTTCCAAAGCCACTTGCCATGCCGACCGTCATTAGCGCATCTGTGGCTCCAAGGACAGCGGCTGAGCCCCGGTCCCCAGGGCCAGTTCCTCACCCGGCCCAGAGCAAGGCCACTGAGGCTGGGGGTGGAAACCCAAGTGGCATCTATTCAGCCATCATCAGCCGCAATTTTCCTATTATCGGAGTGAAAGAGAAGACATTCGAGCAACTTCACAAGAAATGTCTAGAAAAGAAAGTTCTTTATGTGGACCCTGAGTTCCCACCGGATGAGACCTCTCTCTTTTATAGCCAGAAGTTCCCCATCCAGTTCGTCTGGAAGAGACCTCCGGTGAGTAGCTTCCTGCTTGCTGGCTGGGTTTTCCCCCCACGGAGGAGTCCTCTCACTCAGCACCTCCGGCAGCTCAGCTGTGCACATGGGCACTGGGGGAAGGATCCTGGCAGCAGCTCTGCTGGGCTCTGTCTTTAAGTGTGAAGCAGGGAGGAGAGGAACAGGTCTCAGATATTTCACCAAATCTCAGCAAAATCCAGAGGGAGAGCGCAGGAGGTGGGGCTGATTCTTATGCTCTGGCTCTTTCTCTCTGAAAAAAAAAAAAAAATCTTGCTTTTTATAAAAGTGGGTGGAACTCAGTTTAATTCATCCTGTAAAAATAAATATTCCTTTCTCAGAACAAATTCCAGACAGCCCAGATGTACCTGTTCGTTTTAAATATTATTCATCTTTGTAAGATTATTTCAGTTTCTCTGGCTAAAATCATGATGTTATTCTTCTTTAATTTACCAATGGCCATATCTTTCTGAAACACAGAAACCCTAGAAAGAGAAGAGTCATAGGCAAGGAATATTTTTTCATGCATAAAATGTTGGGGTTAAAGAGAGAGAGACCTAGCAATCGCTTTTGTCCACCTACCTCACCTCATAAGTGAGGAGTCAAGGCACACTAGAGTGAAATATATCTAGTGGGCACATGACAGAGCCCGGATTAAAACTTTCTGTTTTAGGAAACTCTCCCAGCCTCTGGGTTTCATTTACAGTGATCGCCAGGAGGGAAATCACATTCCCCTGGCTCACCTCTCTGATCATCCCTCCAGTGTGACTCTTGTTCTTAATTCGAGAAATATTTATTGAGCATCTACTAGTGCCAGCACTGGGCAAGCAACTGGGGGGACAGCAGTGAGTAAGAAAGACCAAAATTCCAGCTGTCTTGGAACCTAGGGTCCTGAAGGGAAGATGGGCATTGAACAAGAGTGACATTGTCAGGAGACGATGTTCTGGGTGCCACAGGATCATGTGGCAAGGAGAGCTAACCTGGTCCAGGGAGACAAACCCTCTCTGAGGAAATGATGACAAGCTGAGACCCAATACTATTGATTAGCCATGGTTTTCTTTAACCTAAGGTGGGCCAGGCATGGTGGCTCATGCCTATAAACCCAGCATTTTGGAAGGCCCAGGCTGGAGGATTGCTTGAGCCCAAGAGTTAGAGACCAGCCTGGGCAACAGGGTGAAAACCTATCTCTTTTGTACTAAAAATTCAAAAAATTATCCAGGCATGGTGGCACATGCCTGTGGTCCTAGCTACTCAGAGGCTGAGGTGGGAAGATCACTTGAACTCGGGGAGTTGAGGCAGCAGTGAGCCGAGATCATGCCACTGCACTCCAGGCTGGGTGACAGGAGTGAGACCCAGTCTCAAACAACAACAATAACAACAACAAACCTGAGGTGGAGTACTAGACAACCCTGTATATTCCATAGGGGCTCTTCTTGGTTCTATGGTAAGGCCCATAACTGTCCTGAAGGCCTTCAGTTTAGAAGATAACACTACTCTGCTATCAGAGTAGTTGGACATGTCACAACCCCCTGCTGAAATATCTTCAGTGACATCCCTCTCTCGGCCCCCACTGCCTTCAGGACAAGTCCAAACTCCTTAGCCAAGCCATAGGCCCTTCTCAGCTGGTCCCTGCCTACCTGTCCAGGCCCATGTCCATCCTCTTTCCCCAGATCCTGACACACCAGCAGTGCTTGGACATTTAGCTGCTCTGTAGTTCCAAGTCTTCTCACACCGGAGGCCTTTGCTCATGCTGTCTGTCTGCCTGACATGCCTTTTTTGTTCCTATCTGAACCTCTGCTCAGGTGTCACTTCCTTCAATCTTTCTCATGACTGATTTCCTCTCACTGAGAGCAGAAATCCTTCCTGTTCATCTTTGAGGCCCCCTCACCAAGCTCAGGCCAGTCCCATAGTGGGTACTCAGCTGATGCTGGTGAGTGAAAACCCACGCCCAAGGGCCTTGACCAGTGAGACAGGATAGGCCTGCGTTCCCAGGCAGGG
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GTCCTTCAAAGCCGCAATCCCAGGGATCAGGAGGCTGATAGTACTCCCTATTTTACCTGTCACTTCCCACCTTCTTCCATAGCCTCTAATCTTGGATTATTGAGACTGGTCGCATGGGAACAGGCATGACTGCAGCCTAGGACATGCCTCCACTCTGCCATACTTGAAATGTGCTCATCTCCTTACAGCCCAGGGAGCAGCTATTGTGGGTAGAAGACAAGGTGGAGGCCAGGCAGGCACTTCCCTTCCCCAGAGCCACTTATGCTCTCATCTAAGAGCCCTGAAACCAGGTGTGACATCCCAGGAGTTGACAGACAGTCTGGTTCAGTATCTAATTCCAACTTCTGTCTCAGATGCCTAATGTGGCATGGCTGAATGAGTCAACATATAACCTGTACAGTAAGTCCTCACTTAACATCATTGATAGGTGCTTGTAAACTGTGACTTTAACGAAAACATACCGTGTGCTGTAGGGACTTAACTCTTGTTTATATCAGTTAGCCTGGTTTCACTATACAGTACATCATTTTGCTTAAAGTCACAGCTTACGAGAACCTATCGATGATGTTAAGTGAGGATTTTCTCTGCTCAGGTGCACTTTTTTTTTTTTTTAAGACGGAGTCTCTTTCTGTCACCTGGGCTGGAGTGCAGTGGCGTGATCTGGGTTCACTACAACCTCTGCCTCCTGGGTTCAAGCAATTCTTCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCGCCGCCACACCCGGCTTATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATTGTTGGCCATGCTGGTCTCGAACTCCTGACCTCATGTGATCCACCCGCCTCGGCCTCCCAAAGTGCAGAGATTAGAGACGTGAGCCACATGGCCCAGCAGGACCACTTTTTAGCAGATTCAGTCCCAGTGTTCATTTTGTGGATGGGGAGAGACAAGAGGTGGCAAGGTCAAGTGTGCAGGTAGAGACAGGGATTTTCTCAAATGAGGACTCTGCTGAGTAGCATTTTCCATGCAGACATTTCCAATGAGCGCTGACCCAAGAACATTCTAAAAAAGATACCAAATCTAACATTGAATAATGTTCTGATATCCTAAAATTTTAGGACTAAAAATCATGTTCTCTAAAATTCACAGAATATTTTTGTAGAATTCAGTACCTCCCGTTCACCCTAACTAGCTTTTTTGCAATATTGTTTTCCATTCATTTGATGGCCAGTAGTTGGGTGGTCTGTATAACTGCCTACTCAATAACATGTCAGCAGTTCTCAGCTTCTTTCCAGTGTTCACCTTACTCAGATACTCCCTTTTCATTTTCTGGCAACACCAGCACTTCATGGCAACAGAAATGTCCCTAGCCAGGTTCTCTCTCTACCATGCAGTCTCTCTTGCTCTCATACTCACAGTGTTTCTTCACATCTATTTTTAGTTTTCCTGGCTCAAGCATCTTCAGGCCACTGAAACACAACCCTCACTCTCTTTCTCTCTCCCTCTGGCATGCATGCTGCTGGTAGGAGACCCCCAAGTCAACATTGCTTCAGAAATCCTTTAGCACTCATTTCTCAGGAGAACTTATGGCTTCAGAATCACAGCTCGGTTTTTAAGATGGACATAACCTGTACGACCTTCTGATGGGCTTTCAACTTTGAACTGGATGTGGACACTTTTCTCTCAGATGACAGAATTACTCCAACTTCCCCTTTGCAGTTGCTTCCTTTCCTTGAAGGTAGCTGTATCTTATTTTCTTTAAAAAGCTTTTTCTTCCAAAGCCACTTGCCATGCCGACCGTCATTAGCGCATCTGTGGCTCCAAGGACAGCGGCTGAGCCCCGGTCCCCAGGGCCAGTTCCTCACCCGGCCCAGAGCAAGGCCACTGAGGCTGGGGGTGGAAACCCAAGTGGCATCTATTCAGCCATCATCAGCCGCAATTTTCCTATTATCGGAGTGAAAGAGAAGACATTCGAGCAACTTCACAAGAAATGTCTAGAAAAGAAAGTTCTTTATGTGGACCCTGAGTTCCCACCGGATGAGACCTTTCTCTTTTATAGCCAGAAGTTCCCCATCCAGTTCGTCTGGAAGAGACCTCCGGTGAGTAGCTTCCTGCTTGCTGGCTGGGTTTTCCCCCCACGGAGGAGTCCTCTCACTCAGCACCTCCGGCAGCTCAGCTGTGCACATGGGCACTGGGGGAAGGATCCTGGCAGCAGCTCTGCTGGGCTCTGTCTTTAAGTGTGAAGCAGGGAGGAGAGGAACAGGTCTCAGATATTTCACCAAATCTCAGCAAAATCCAGAGGGAGAGCGCAGGAGGTGGGGCTGATTCTTATGCTCTGGCTCTTTCTCTCTGAAAAAAAAAAAAAAATCTTGCTTTTTATAAAAGTGGGTGGAACTCAGTTTAATTCATCCTGTAAAAATAAATATTCCTTTCTCAGAACAAATTCCAGACAGCCCAGATGTACCTGTTCGTTTTAAATATTATTCATCTTTGTAAGATTATTTCAGTTTCTCTGGCTAAAATCATGATGTTATTCTTCTTTAATTTACCAATGGCCATATCTTTCTGAAACACAGAAACCCTAGAAAGAGAAGAGTCATAGGCAAGGAATATTTTTTCATGCATAAAATGTTGGGGTTAAAGAGAGAGAGACCTAGCAATCGCTTTTGTCCACCTACCTCACCTCATAAGTGAGGAGTCAAGGCACACTAGAGTGAAATATATCTAGTGGGCACATGACAGAGCCCGGATTAAAACTTTCTGTTTTAGGAAACTCTCCCAGCCTCTGGGTTTCATTTACAGTGATCGCCAGGAGGGAAATCACATTCCCCTGGCTCACCTCTCTGATCATCCCTCCAGTGTGACTCTTGTTCTTAATTCGAGAAATATTTATTGAGCATCTACTAGTGCCAGCACTGGGCAAGCAACTGGGGGGACAGCAGTGAGTAAGAAAGACCAAAATTCCAGCTGTCTTGGAACCTAGGGTCCTGAAGGGAAGATGGGCATTGAACAAGAGTGACATTGTCAGGAGACGATGTTCTGGGTGCCACAGGATCATGTGGCAAGGAGAGCTAACCTGGTCCAGGGAGACAAACCCTCTCTGAGGAAATGATGACAAGCTGAGACCCAATACTATTGATTAGCCATGGTTTTCTTTAACCTAAGGTGGGCCAGGCATGGTGGCTCATGCCTATAAACCCAGCATTTTGGAAGGCCCAGGCTGGAGGATTGCTTGAGCCCAAGAGTTAGAGACCAGCCTGGGCAACAGGGTGAAAACCTATCTCTTTTGTACTAAAAATTCAAAAAATTATCCAGGCATGGTGGCACATGCCTGTGGTCCTAGCTACTCAGAGGCTGAGGTGGGAAGATCACTTGAACTCGGGGAGTTGAGGCAGCAGTGAGCCGAGATCATGCCACTGCACTCCAGGCTGGGTGACAGGAGTGAGACCCAGTCTCAAACAACAACAATAACAACAACAAACCTGAGGTGGAGTACTAGACAACCCTGTATATTCCATAGGGGCTCTTCTTGGTTCTATGGTAAGGCCCATAACTGTCCTGAAGGCCTTCAGTTTAGAAGATAACACTACTCTGCTATCAGAGTAGTTGGACATGTCACAACCCCCTGCTGAAATATCTTCAGTGACATCCCTCTCTCGGCCCCCACTGCCTTCAGGACAAGTCCAAACTCCTTAGCCAAGCCATAGGCCCTTCTCAGCTGGTCCCTGCCTACCTGTCCAGGCCCATGTCCATCCTCTTTCCCCAGATCCTGACACACCAGCAGTGCTTGGACATTTAGCTGCTCTGTAGTTCCAAGTCTTCTCACACCGGAGGCCTTTGCTCATGCTGTCTGTCTGCCTGACATGCCTTTTTTGTTCCTATCTGAACCTCTGCTCAGGTGTCACTTCCTTCAATCTTTCTCATGACTGATTTCCTCTCACTGAGAGCAGAAATCCTTCCTGTTCATCTTTGAGGCCCCCTCACCAAGCTCAGGCCAGTCCCATAGTGGGTACTCAGCTGATGCTGGTGAGTGAAAACCCACGCCCAAGGGCCTTGACCAGTGAGACAGGATAGGCCTGCGTTCCCAGGCAGGG
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Task1_train_20552
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Located on Chromosome 15, this mutation impacts CAPN3 (calpain 3). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2A
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CTGATAGTACTCCCTATTTTACCTGTCACTTCCCACCTTCTTCCATAGCCTCTAATCTTGGATTATTGAGACTGGTCGCATGGGAACAGGCATGACTGCAGCCTAGGACATGCCTCCACTCTGCCATACTTGAAATGTGCTCATCTCCTTACAGCCCAGGGAGCAGCTATTGTGGGTAGAAGACAAGGTGGAGGCCAGGCAGGCACTTCCCTTCCCCAGAGCCACTTATGCTCTCATCTAAGAGCCCTGAAACCAGGTGTGACATCCCAGGAGTTGACAGACAGTCTGGTTCAGTATCTAATTCCAACTTCTGTCTCAGATGCCTAATGTGGCATGGCTGAATGAGTCAACATATAACCTGTACAGTAAGTCCTCACTTAACATCATTGATAGGTGCTTGTAAACTGTGACTTTAACGAAAACATACCGTGTGCTGTAGGGACTTAACTCTTGTTTATATCAGTTAGCCTGGTTTCACTATACAGTACATCATTTTGCTTAAAGTCACAGCTTACGAGAACCTATCGATGATGTTAAGTGAGGATTTTCTCTGCTCAGGTGCACTTTTTTTTTTTTTTAAGACGGAGTCTCTTTCTGTCACCTGGGCTGGAGTGCAGTGGCGTGATCTGGGTTCACTACAACCTCTGCCTCCTGGGTTCAAGCAATTCTTCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCGCCGCCACACCCGGCTTATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATTGTTGGCCATGCTGGTCTCGAACTCCTGACCTCATGTGATCCACCCGCCTCGGCCTCCCAAAGTGCAGAGATTAGAGACGTGAGCCACATGGCCCAGCAGGACCACTTTTTAGCAGATTCAGTCCCAGTGTTCATTTTGTGGATGGGGAGAGACAAGAGGTGGCAAGGTCAAGTGTGCAGGTAGAGACAGGGATTTTCTCAAATGAGGACTCTGCTGAGTAGCATTTTCCATGCAGACATTTCCAATGAGCGCTGACCCAAGAACATTCTAAAAAAGATACCAAATCTAACATTGAATAATGTTCTGATATCCTAAAATTTTAGGACTAAAAATCATGTTCTCTAAAATTCACAGAATATTTTTGTAGAATTCAGTACCTCCCGTTCACCCTAACTAGCTTTTTTGCAATATTGTTTTCCATTCATTTGATGGCCAGTAGTTGGGTGGTCTGTATAACTGCCTACTCAATAACATGTCAGCAGTTCTCAGCTTCTTTCCAGTGTTCACCTTACTCAGATACTCCCTTTTCATTTTCTGGCAACACCAGCACTTCATGGCAACAGAAATGTCCCTAGCCAGGTTCTCTCTCTACCATGCAGTCTCTCTTGCTCTCATACTCACAGTGTTTCTTCACATCTATTTTTAGTTTTCCTGGCTCAAGCATCTTCAGGCCACTGAAACACAACCCTCACTCTCTTTCTCTCTCCCTCTGGCATGCATGCTGCTGGTAGGAGACCCCCAAGTCAACATTGCTTCAGAAATCCTTTAGCACTCATTTCTCAGGAGAACTTATGGCTTCAGAATCACAGCTCGGTTTTTAAGATGGACATAACCTGTACGACCTTCTGATGGGCTTTCAACTTTGAACTGGATGTGGACACTTTTCTCTCAGATGACAGAATTACTCCAACTTCCCCTTTGCAGTTGCTTCCTTTCCTTGAAGGTAGCTGTATCTTATTTTCTTTAAAAAGCTTTTTCTTCCAAAGCCACTTGCCATGCCGACCGTCATTAGCGCATCTGTGGCTCCAAGGACAGCGGCTGAGCCCCGGTCCCCAGGGCCAGTTCCTCACCCGGCCCAGAGCAAGGCCACTGAGGCTGGGGGTGGAAACCCAAGTGGCATCTATTCAGCCATCATCAGCCGCAATTTTCCTATTATCGGAGTGAAAGAGAAGACATTCGAGCAACTTCACAAGAAATGTCTAGAAAAGAAAGTTCTTTATGTGGACCCTGAGTTCCCACCGGATGAGACCTCTCTCTTTTATAGCCAGAAGTTCCCCATCCAGTTCGTCTGGAAGAGACCTCCGGTGAGTAGCTTCCTGCTTGCTGGCTGGGTTTTCCCCCCACGGAGGAGTCCTCTCACTCAGCACCTCCGGCAGCTCAGCTGTGCACATGGGCACTGGGGGAAGGATCCTGGCAGCAGCTCTGCTGGGCTCTGTCTTTAAGTGTGAAGCAGGGAGGAGAGGAACAGGTCTCAGATATTTCACCAAATCTCAGCAAAATCCAGAGGGAGAGCGCAGGAGGTGGGGCTGATTCTTATGCTCTGGCTCTTTCTCTCTGAAAAAAAAAAAAAAATCTTGCTTTTTATAAAAGTGGGTGGAACTCAGTTTAATTCATCCTGTAAAAATAAATATTCCTTTCTCAGAACAAATTCCAGACAGCCCAGATGTACCTGTTCGTTTTAAATATTATTCATCTTTGTAAGATTATTTCAGTTTCTCTGGCTAAAATCATGATGTTATTCTTCTTTAATTTACCAATGGCCATATCTTTCTGAAACACAGAAACCCTAGAAAGAGAAGAGTCATAGGCAAGGAATATTTTTTCATGCATAAAATGTTGGGGTTAAAGAGAGAGAGACCTAGCAATCGCTTTTGTCCACCTACCTCACCTCATAAGTGAGGAGTCAAGGCACACTAGAGTGAAATATATCTAGTGGGCACATGACAGAGCCCGGATTAAAACTTTCTGTTTTAGGAAACTCTCCCAGCCTCTGGGTTTCATTTACAGTGATCGCCAGGAGGGAAATCACATTCCCCTGGCTCACCTCTCTGATCATCCCTCCAGTGTGACTCTTGTTCTTAATTCGAGAAATATTTATTGAGCATCTACTAGTGCCAGCACTGGGCAAGCAACTGGGGGGACAGCAGTGAGTAAGAAAGACCAAAATTCCAGCTGTCTTGGAACCTAGGGTCCTGAAGGGAAGATGGGCATTGAACAAGAGTGACATTGTCAGGAGACGATGTTCTGGGTGCCACAGGATCATGTGGCAAGGAGAGCTAACCTGGTCCAGGGAGACAAACCCTCTCTGAGGAAATGATGACAAGCTGAGACCCAATACTATTGATTAGCCATGGTTTTCTTTAACCTAAGGTGGGCCAGGCATGGTGGCTCATGCCTATAAACCCAGCATTTTGGAAGGCCCAGGCTGGAGGATTGCTTGAGCCCAAGAGTTAGAGACCAGCCTGGGCAACAGGGTGAAAACCTATCTCTTTTGTACTAAAAATTCAAAAAATTATCCAGGCATGGTGGCACATGCCTGTGGTCCTAGCTACTCAGAGGCTGAGGTGGGAAGATCACTTGAACTCGGGGAGTTGAGGCAGCAGTGAGCCGAGATCATGCCACTGCACTCCAGGCTGGGTGACAGGAGTGAGACCCAGTCTCAAACAACAACAATAACAACAACAAACCTGAGGTGGAGTACTAGACAACCCTGTATATTCCATAGGGGCTCTTCTTGGTTCTATGGTAAGGCCCATAACTGTCCTGAAGGCCTTCAGTTTAGAAGATAACACTACTCTGCTATCAGAGTAGTTGGACATGTCACAACCCCCTGCTGAAATATCTTCAGTGACATCCCTCTCTCGGCCCCCACTGCCTTCAGGACAAGTCCAAACTCCTTAGCCAAGCCATAGGCCCTTCTCAGCTGGTCCCTGCCTACCTGTCCAGGCCCATGTCCATCCTCTTTCCCCAGATCCTGACACACCAGCAGTGCTTGGACATTTAGCTGCTCTGTAGTTCCAAGTCTTCTCACACCGGAGGCCTTTGCTCATGCTGTCTGTCTGCCTGACATGCCTTTTTTGTTCCTATCTGAACCTCTGCTCAGGTGTCACTTCCTTCAATCTTTCTCATGACTGATTTCCTCTCACTGAGAGCAGAAATCCTTCCTGTTCATCTTTGAGGCCCCCTCACCAAGCTCAGGCCAGTCCCATAGTGGGTACTCAGCTGATGCTGGTGAGTGAAAACCCACGCCCAAGGGCCTTGACCAGTGAGACAGGATAGGCCTGCGTTCCCAGGCAGGGAGTTCCTAAAAGCCCTTTCTTGGGCCAGACATGG
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CTGATAGTACTCCCTATTTTACCTGTCACTTCCCACCTTCTTCCATAGCCTCTAATCTTGGATTATTGAGACTGGTCGCATGGGAACAGGCATGACTGCAGCCTAGGACATGCCTCCACTCTGCCATACTTGAAATGTGCTCATCTCCTTACAGCCCAGGGAGCAGCTATTGTGGGTAGAAGACAAGGTGGAGGCCAGGCAGGCACTTCCCTTCCCCAGAGCCACTTATGCTCTCATCTAAGAGCCCTGAAACCAGGTGTGACATCCCAGGAGTTGACAGACAGTCTGGTTCAGTATCTAATTCCAACTTCTGTCTCAGATGCCTAATGTGGCATGGCTGAATGAGTCAACATATAACCTGTACAGTAAGTCCTCACTTAACATCATTGATAGGTGCTTGTAAACTGTGACTTTAACGAAAACATACCGTGTGCTGTAGGGACTTAACTCTTGTTTATATCAGTTAGCCTGGTTTCACTATACAGTACATCATTTTGCTTAAAGTCACAGCTTACGAGAACCTATCGATGATGTTAAGTGAGGATTTTCTCTGCTCAGGTGCACTTTTTTTTTTTTTTAAGACGGAGTCTCTTTCTGTCACCTGGGCTGGAGTGCAGTGGCGTGATCTGGGTTCACTACAACCTCTGCCTCCTGGGTTCAAGCAATTCTTCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCGCCGCCACACCCGGCTTATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATTGTTGGCCATGCTGGTCTCGAACTCCTGACCTCATGTGATCCACCCGCCTCGGCCTCCCAAAGTGCAGAGATTAGAGACGTGAGCCACATGGCCCAGCAGGACCACTTTTTAGCAGATTCAGTCCCAGTGTTCATTTTGTGGATGGGGAGAGACAAGAGGTGGCAAGGTCAAGTGTGCAGGTAGAGACAGGGATTTTCTCAAATGAGGACTCTGCTGAGTAGCATTTTCCATGCAGACATTTCCAATGAGCGCTGACCCAAGAACATTCTAAAAAAGATACCAAATCTAACATTGAATAATGTTCTGATATCCTAAAATTTTAGGACTAAAAATCATGTTCTCTAAAATTCACAGAATATTTTTGTAGAATTCAGTACCTCCCGTTCACCCTAACTAGCTTTTTTGCAATATTGTTTTCCATTCATTTGATGGCCAGTAGTTGGGTGGTCTGTATAACTGCCTACTCAATAACATGTCAGCAGTTCTCAGCTTCTTTCCAGTGTTCACCTTACTCAGATACTCCCTTTTCATTTTCTGGCAACACCAGCACTTCATGGCAACAGAAATGTCCCTAGCCAGGTTCTCTCTCTACCATGCAGTCTCTCTTGCTCTCATACTCACAGTGTTTCTTCACATCTATTTTTAGTTTTCCTGGCTCAAGCATCTTCAGGCCACTGAAACACAACCCTCACTCTCTTTCTCTCTCCCTCTGGCATGCATGCTGCTGGTAGGAGACCCCCAAGTCAACATTGCTTCAGAAATCCTTTAGCACTCATTTCTCAGGAGAACTTATGGCTTCAGAATCACAGCTCGGTTTTTAAGATGGACATAACCTGTACGACCTTCTGATGGGCTTTCAACTTTGAACTGGATGTGGACACTTTTCTCTCAGATGACAGAATTACTCCAACTTCCCCTTTGCAGTTGCTTCCTTTCCTTGAAGGTAGCTGTATCTTATTTTCTTTAAAAAGCTTTTTCTTCCAAAGCCACTTGCCATGCCGACCGTCATTAGCGCATCTGTGGCTCCAAGGACAGCGGCTGAGCCCCGGTCCCCAGGGCCAGTTCCTCACCCGGCCCAGAGCAAGGCCACTGAGGCTGGGGGTGGAAACCCAAGTGGCATCTATTCAGCCATCATCAGCCGCAATTTTCCTATTATCGGAGTGAAAGAGAAGACATTCGAGCAACTTCACAAGAAATGTCTAGAAAAGAAAGTTCTTTATGTGGACCCTGAGTTCCCACCGGATGAGACCTCTCTCTTTTATAGCCAGAAGTTCCCCATCCAGTTAGTCTGGAAGAGACCTCCGGTGAGTAGCTTCCTGCTTGCTGGCTGGGTTTTCCCCCCACGGAGGAGTCCTCTCACTCAGCACCTCCGGCAGCTCAGCTGTGCACATGGGCACTGGGGGAAGGATCCTGGCAGCAGCTCTGCTGGGCTCTGTCTTTAAGTGTGAAGCAGGGAGGAGAGGAACAGGTCTCAGATATTTCACCAAATCTCAGCAAAATCCAGAGGGAGAGCGCAGGAGGTGGGGCTGATTCTTATGCTCTGGCTCTTTCTCTCTGAAAAAAAAAAAAAAATCTTGCTTTTTATAAAAGTGGGTGGAACTCAGTTTAATTCATCCTGTAAAAATAAATATTCCTTTCTCAGAACAAATTCCAGACAGCCCAGATGTACCTGTTCGTTTTAAATATTATTCATCTTTGTAAGATTATTTCAGTTTCTCTGGCTAAAATCATGATGTTATTCTTCTTTAATTTACCAATGGCCATATCTTTCTGAAACACAGAAACCCTAGAAAGAGAAGAGTCATAGGCAAGGAATATTTTTTCATGCATAAAATGTTGGGGTTAAAGAGAGAGAGACCTAGCAATCGCTTTTGTCCACCTACCTCACCTCATAAGTGAGGAGTCAAGGCACACTAGAGTGAAATATATCTAGTGGGCACATGACAGAGCCCGGATTAAAACTTTCTGTTTTAGGAAACTCTCCCAGCCTCTGGGTTTCATTTACAGTGATCGCCAGGAGGGAAATCACATTCCCCTGGCTCACCTCTCTGATCATCCCTCCAGTGTGACTCTTGTTCTTAATTCGAGAAATATTTATTGAGCATCTACTAGTGCCAGCACTGGGCAAGCAACTGGGGGGACAGCAGTGAGTAAGAAAGACCAAAATTCCAGCTGTCTTGGAACCTAGGGTCCTGAAGGGAAGATGGGCATTGAACAAGAGTGACATTGTCAGGAGACGATGTTCTGGGTGCCACAGGATCATGTGGCAAGGAGAGCTAACCTGGTCCAGGGAGACAAACCCTCTCTGAGGAAATGATGACAAGCTGAGACCCAATACTATTGATTAGCCATGGTTTTCTTTAACCTAAGGTGGGCCAGGCATGGTGGCTCATGCCTATAAACCCAGCATTTTGGAAGGCCCAGGCTGGAGGATTGCTTGAGCCCAAGAGTTAGAGACCAGCCTGGGCAACAGGGTGAAAACCTATCTCTTTTGTACTAAAAATTCAAAAAATTATCCAGGCATGGTGGCACATGCCTGTGGTCCTAGCTACTCAGAGGCTGAGGTGGGAAGATCACTTGAACTCGGGGAGTTGAGGCAGCAGTGAGCCGAGATCATGCCACTGCACTCCAGGCTGGGTGACAGGAGTGAGACCCAGTCTCAAACAACAACAATAACAACAACAAACCTGAGGTGGAGTACTAGACAACCCTGTATATTCCATAGGGGCTCTTCTTGGTTCTATGGTAAGGCCCATAACTGTCCTGAAGGCCTTCAGTTTAGAAGATAACACTACTCTGCTATCAGAGTAGTTGGACATGTCACAACCCCCTGCTGAAATATCTTCAGTGACATCCCTCTCTCGGCCCCCACTGCCTTCAGGACAAGTCCAAACTCCTTAGCCAAGCCATAGGCCCTTCTCAGCTGGTCCCTGCCTACCTGTCCAGGCCCATGTCCATCCTCTTTCCCCAGATCCTGACACACCAGCAGTGCTTGGACATTTAGCTGCTCTGTAGTTCCAAGTCTTCTCACACCGGAGGCCTTTGCTCATGCTGTCTGTCTGCCTGACATGCCTTTTTTGTTCCTATCTGAACCTCTGCTCAGGTGTCACTTCCTTCAATCTTTCTCATGACTGATTTCCTCTCACTGAGAGCAGAAATCCTTCCTGTTCATCTTTGAGGCCCCCTCACCAAGCTCAGGCCAGTCCCATAGTGGGTACTCAGCTGATGCTGGTGAGTGAAAACCCACGCCCAAGGGCCTTGACCAGTGAGACAGGATAGGCCTGCGTTCCCAGGCAGGGAGTTCCTAAAAGCCCTTTCTTGGGCCAGACATGG
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Task1_train_20553
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A variant on Chromosome 15 in gene CAPN3 (calpain 3) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Autosomal recessive limb-girdle muscular dystrophy
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CTGATAGTACTCCCTATTTTACCTGTCACTTCCCACCTTCTTCCATAGCCTCTAATCTTGGATTATTGAGACTGGTCGCATGGGAACAGGCATGACTGCAGCCTAGGACATGCCTCCACTCTGCCATACTTGAAATGTGCTCATCTCCTTACAGCCCAGGGAGCAGCTATTGTGGGTAGAAGACAAGGTGGAGGCCAGGCAGGCACTTCCCTTCCCCAGAGCCACTTATGCTCTCATCTAAGAGCCCTGAAACCAGGTGTGACATCCCAGGAGTTGACAGACAGTCTGGTTCAGTATCTAATTCCAACTTCTGTCTCAGATGCCTAATGTGGCATGGCTGAATGAGTCAACATATAACCTGTACAGTAAGTCCTCACTTAACATCATTGATAGGTGCTTGTAAACTGTGACTTTAACGAAAACATACCGTGTGCTGTAGGGACTTAACTCTTGTTTATATCAGTTAGCCTGGTTTCACTATACAGTACATCATTTTGCTTAAAGTCACAGCTTACGAGAACCTATCGATGATGTTAAGTGAGGATTTTCTCTGCTCAGGTGCACTTTTTTTTTTTTTTAAGACGGAGTCTCTTTCTGTCACCTGGGCTGGAGTGCAGTGGCGTGATCTGGGTTCACTACAACCTCTGCCTCCTGGGTTCAAGCAATTCTTCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCGCCGCCACACCCGGCTTATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATTGTTGGCCATGCTGGTCTCGAACTCCTGACCTCATGTGATCCACCCGCCTCGGCCTCCCAAAGTGCAGAGATTAGAGACGTGAGCCACATGGCCCAGCAGGACCACTTTTTAGCAGATTCAGTCCCAGTGTTCATTTTGTGGATGGGGAGAGACAAGAGGTGGCAAGGTCAAGTGTGCAGGTAGAGACAGGGATTTTCTCAAATGAGGACTCTGCTGAGTAGCATTTTCCATGCAGACATTTCCAATGAGCGCTGACCCAAGAACATTCTAAAAAAGATACCAAATCTAACATTGAATAATGTTCTGATATCCTAAAATTTTAGGACTAAAAATCATGTTCTCTAAAATTCACAGAATATTTTTGTAGAATTCAGTACCTCCCGTTCACCCTAACTAGCTTTTTTGCAATATTGTTTTCCATTCATTTGATGGCCAGTAGTTGGGTGGTCTGTATAACTGCCTACTCAATAACATGTCAGCAGTTCTCAGCTTCTTTCCAGTGTTCACCTTACTCAGATACTCCCTTTTCATTTTCTGGCAACACCAGCACTTCATGGCAACAGAAATGTCCCTAGCCAGGTTCTCTCTCTACCATGCAGTCTCTCTTGCTCTCATACTCACAGTGTTTCTTCACATCTATTTTTAGTTTTCCTGGCTCAAGCATCTTCAGGCCACTGAAACACAACCCTCACTCTCTTTCTCTCTCCCTCTGGCATGCATGCTGCTGGTAGGAGACCCCCAAGTCAACATTGCTTCAGAAATCCTTTAGCACTCATTTCTCAGGAGAACTTATGGCTTCAGAATCACAGCTCGGTTTTTAAGATGGACATAACCTGTACGACCTTCTGATGGGCTTTCAACTTTGAACTGGATGTGGACACTTTTCTCTCAGATGACAGAATTACTCCAACTTCCCCTTTGCAGTTGCTTCCTTTCCTTGAAGGTAGCTGTATCTTATTTTCTTTAAAAAGCTTTTTCTTCCAAAGCCACTTGCCATGCCGACCGTCATTAGCGCATCTGTGGCTCCAAGGACAGCGGCTGAGCCCCGGTCCCCAGGGCCAGTTCCTCACCCGGCCCAGAGCAAGGCCACTGAGGCTGGGGGTGGAAACCCAAGTGGCATCTATTCAGCCATCATCAGCCGCAATTTTCCTATTATCGGAGTGAAAGAGAAGACATTCGAGCAACTTCACAAGAAATGTCTAGAAAAGAAAGTTCTTTATGTGGACCCTGAGTTCCCACCGGATGAGACCTCTCTCTTTTATAGCCAGAAGTTCCCCATCCAGTTCGTCTGGAAGAGACCTCCGGTGAGTAGCTTCCTGCTTGCTGGCTGGGTTTTCCCCCCACGGAGGAGTCCTCTCACTCAGCACCTCCGGCAGCTCAGCTGTGCACATGGGCACTGGGGGAAGGATCCTGGCAGCAGCTCTGCTGGGCTCTGTCTTTAAGTGTGAAGCAGGGAGGAGAGGAACAGGTCTCAGATATTTCACCAAATCTCAGCAAAATCCAGAGGGAGAGCGCAGGAGGTGGGGCTGATTCTTATGCTCTGGCTCTTTCTCTCTGAAAAAAAAAAAAAAATCTTGCTTTTTATAAAAGTGGGTGGAACTCAGTTTAATTCATCCTGTAAAAATAAATATTCCTTTCTCAGAACAAATTCCAGACAGCCCAGATGTACCTGTTCGTTTTAAATATTATTCATCTTTGTAAGATTATTTCAGTTTCTCTGGCTAAAATCATGATGTTATTCTTCTTTAATTTACCAATGGCCATATCTTTCTGAAACACAGAAACCCTAGAAAGAGAAGAGTCATAGGCAAGGAATATTTTTTCATGCATAAAATGTTGGGGTTAAAGAGAGAGAGACCTAGCAATCGCTTTTGTCCACCTACCTCACCTCATAAGTGAGGAGTCAAGGCACACTAGAGTGAAATATATCTAGTGGGCACATGACAGAGCCCGGATTAAAACTTTCTGTTTTAGGAAACTCTCCCAGCCTCTGGGTTTCATTTACAGTGATCGCCAGGAGGGAAATCACATTCCCCTGGCTCACCTCTCTGATCATCCCTCCAGTGTGACTCTTGTTCTTAATTCGAGAAATATTTATTGAGCATCTACTAGTGCCAGCACTGGGCAAGCAACTGGGGGGACAGCAGTGAGTAAGAAAGACCAAAATTCCAGCTGTCTTGGAACCTAGGGTCCTGAAGGGAAGATGGGCATTGAACAAGAGTGACATTGTCAGGAGACGATGTTCTGGGTGCCACAGGATCATGTGGCAAGGAGAGCTAACCTGGTCCAGGGAGACAAACCCTCTCTGAGGAAATGATGACAAGCTGAGACCCAATACTATTGATTAGCCATGGTTTTCTTTAACCTAAGGTGGGCCAGGCATGGTGGCTCATGCCTATAAACCCAGCATTTTGGAAGGCCCAGGCTGGAGGATTGCTTGAGCCCAAGAGTTAGAGACCAGCCTGGGCAACAGGGTGAAAACCTATCTCTTTTGTACTAAAAATTCAAAAAATTATCCAGGCATGGTGGCACATGCCTGTGGTCCTAGCTACTCAGAGGCTGAGGTGGGAAGATCACTTGAACTCGGGGAGTTGAGGCAGCAGTGAGCCGAGATCATGCCACTGCACTCCAGGCTGGGTGACAGGAGTGAGACCCAGTCTCAAACAACAACAATAACAACAACAAACCTGAGGTGGAGTACTAGACAACCCTGTATATTCCATAGGGGCTCTTCTTGGTTCTATGGTAAGGCCCATAACTGTCCTGAAGGCCTTCAGTTTAGAAGATAACACTACTCTGCTATCAGAGTAGTTGGACATGTCACAACCCCCTGCTGAAATATCTTCAGTGACATCCCTCTCTCGGCCCCCACTGCCTTCAGGACAAGTCCAAACTCCTTAGCCAAGCCATAGGCCCTTCTCAGCTGGTCCCTGCCTACCTGTCCAGGCCCATGTCCATCCTCTTTCCCCAGATCCTGACACACCAGCAGTGCTTGGACATTTAGCTGCTCTGTAGTTCCAAGTCTTCTCACACCGGAGGCCTTTGCTCATGCTGTCTGTCTGCCTGACATGCCTTTTTTGTTCCTATCTGAACCTCTGCTCAGGTGTCACTTCCTTCAATCTTTCTCATGACTGATTTCCTCTCACTGAGAGCAGAAATCCTTCCTGTTCATCTTTGAGGCCCCCTCACCAAGCTCAGGCCAGTCCCATAGTGGGTACTCAGCTGATGCTGGTGAGTGAAAACCCACGCCCAAGGGCCTTGACCAGTGAGACAGGATAGGCCTGCGTTCCCAGGCAGGGAGTTCCTAAAAGCCCTTTCTTGGGCCAGACATGG
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CTGATAGTACTCCCTATTTTACCTGTCACTTCCCACCTTCTTCCATAGCCTCTAATCTTGGATTATTGAGACTGGTCGCATGGGAACAGGCATGACTGCAGCCTAGGACATGCCTCCACTCTGCCATACTTGAAATGTGCTCATCTCCTTACAGCCCAGGGAGCAGCTATTGTGGGTAGAAGACAAGGTGGAGGCCAGGCAGGCACTTCCCTTCCCCAGAGCCACTTATGCTCTCATCTAAGAGCCCTGAAACCAGGTGTGACATCCCAGGAGTTGACAGACAGTCTGGTTCAGTATCTAATTCCAACTTCTGTCTCAGATGCCTAATGTGGCATGGCTGAATGAGTCAACATATAACCTGTACAGTAAGTCCTCACTTAACATCATTGATAGGTGCTTGTAAACTGTGACTTTAACGAAAACATACCGTGTGCTGTAGGGACTTAACTCTTGTTTATATCAGTTAGCCTGGTTTCACTATACAGTACATCATTTTGCTTAAAGTCACAGCTTACGAGAACCTATCGATGATGTTAAGTGAGGATTTTCTCTGCTCAGGTGCACTTTTTTTTTTTTTTAAGACGGAGTCTCTTTCTGTCACCTGGGCTGGAGTGCAGTGGCGTGATCTGGGTTCACTACAACCTCTGCCTCCTGGGTTCAAGCAATTCTTCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCGCCGCCACACCCGGCTTATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATTGTTGGCCATGCTGGTCTCGAACTCCTGACCTCATGTGATCCACCCGCCTCGGCCTCCCAAAGTGCAGAGATTAGAGACGTGAGCCACATGGCCCAGCAGGACCACTTTTTAGCAGATTCAGTCCCAGTGTTCATTTTGTGGATGGGGAGAGACAAGAGGTGGCAAGGTCAAGTGTGCAGGTAGAGACAGGGATTTTCTCAAATGAGGACTCTGCTGAGTAGCATTTTCCATGCAGACATTTCCAATGAGCGCTGACCCAAGAACATTCTAAAAAAGATACCAAATCTAACATTGAATAATGTTCTGATATCCTAAAATTTTAGGACTAAAAATCATGTTCTCTAAAATTCACAGAATATTTTTGTAGAATTCAGTACCTCCCGTTCACCCTAACTAGCTTTTTTGCAATATTGTTTTCCATTCATTTGATGGCCAGTAGTTGGGTGGTCTGTATAACTGCCTACTCAATAACATGTCAGCAGTTCTCAGCTTCTTTCCAGTGTTCACCTTACTCAGATACTCCCTTTTCATTTTCTGGCAACACCAGCACTTCATGGCAACAGAAATGTCCCTAGCCAGGTTCTCTCTCTACCATGCAGTCTCTCTTGCTCTCATACTCACAGTGTTTCTTCACATCTATTTTTAGTTTTCCTGGCTCAAGCATCTTCAGGCCACTGAAACACAACCCTCACTCTCTTTCTCTCTCCCTCTGGCATGCATGCTGCTGGTAGGAGACCCCCAAGTCAACATTGCTTCAGAAATCCTTTAGCACTCATTTCTCAGGAGAACTTATGGCTTCAGAATCACAGCTCGGTTTTTAAGATGGACATAACCTGTACGACCTTCTGATGGGCTTTCAACTTTGAACTGGATGTGGACACTTTTCTCTCAGATGACAGAATTACTCCAACTTCCCCTTTGCAGTTGCTTCCTTTCCTTGAAGGTAGCTGTATCTTATTTTCTTTAAAAAGCTTTTTCTTCCAAAGCCACTTGCCATGCCGACCGTCATTAGCGCATCTGTGGCTCCAAGGACAGCGGCTGAGCCCCGGTCCCCAGGGCCAGTTCCTCACCCGGCCCAGAGCAAGGCCACTGAGGCTGGGGGTGGAAACCCAAGTGGCATCTATTCAGCCATCATCAGCCGCAATTTTCCTATTATCGGAGTGAAAGAGAAGACATTCGAGCAACTTCACAAGAAATGTCTAGAAAAGAAAGTTCTTTATGTGGACCCTGAGTTCCCACCGGATGAGACCTCTCTCTTTTATAGCCAGAAGTTCCCCATCCAGTTAGTCTGGAAGAGACCTCCGGTGAGTAGCTTCCTGCTTGCTGGCTGGGTTTTCCCCCCACGGAGGAGTCCTCTCACTCAGCACCTCCGGCAGCTCAGCTGTGCACATGGGCACTGGGGGAAGGATCCTGGCAGCAGCTCTGCTGGGCTCTGTCTTTAAGTGTGAAGCAGGGAGGAGAGGAACAGGTCTCAGATATTTCACCAAATCTCAGCAAAATCCAGAGGGAGAGCGCAGGAGGTGGGGCTGATTCTTATGCTCTGGCTCTTTCTCTCTGAAAAAAAAAAAAAAATCTTGCTTTTTATAAAAGTGGGTGGAACTCAGTTTAATTCATCCTGTAAAAATAAATATTCCTTTCTCAGAACAAATTCCAGACAGCCCAGATGTACCTGTTCGTTTTAAATATTATTCATCTTTGTAAGATTATTTCAGTTTCTCTGGCTAAAATCATGATGTTATTCTTCTTTAATTTACCAATGGCCATATCTTTCTGAAACACAGAAACCCTAGAAAGAGAAGAGTCATAGGCAAGGAATATTTTTTCATGCATAAAATGTTGGGGTTAAAGAGAGAGAGACCTAGCAATCGCTTTTGTCCACCTACCTCACCTCATAAGTGAGGAGTCAAGGCACACTAGAGTGAAATATATCTAGTGGGCACATGACAGAGCCCGGATTAAAACTTTCTGTTTTAGGAAACTCTCCCAGCCTCTGGGTTTCATTTACAGTGATCGCCAGGAGGGAAATCACATTCCCCTGGCTCACCTCTCTGATCATCCCTCCAGTGTGACTCTTGTTCTTAATTCGAGAAATATTTATTGAGCATCTACTAGTGCCAGCACTGGGCAAGCAACTGGGGGGACAGCAGTGAGTAAGAAAGACCAAAATTCCAGCTGTCTTGGAACCTAGGGTCCTGAAGGGAAGATGGGCATTGAACAAGAGTGACATTGTCAGGAGACGATGTTCTGGGTGCCACAGGATCATGTGGCAAGGAGAGCTAACCTGGTCCAGGGAGACAAACCCTCTCTGAGGAAATGATGACAAGCTGAGACCCAATACTATTGATTAGCCATGGTTTTCTTTAACCTAAGGTGGGCCAGGCATGGTGGCTCATGCCTATAAACCCAGCATTTTGGAAGGCCCAGGCTGGAGGATTGCTTGAGCCCAAGAGTTAGAGACCAGCCTGGGCAACAGGGTGAAAACCTATCTCTTTTGTACTAAAAATTCAAAAAATTATCCAGGCATGGTGGCACATGCCTGTGGTCCTAGCTACTCAGAGGCTGAGGTGGGAAGATCACTTGAACTCGGGGAGTTGAGGCAGCAGTGAGCCGAGATCATGCCACTGCACTCCAGGCTGGGTGACAGGAGTGAGACCCAGTCTCAAACAACAACAATAACAACAACAAACCTGAGGTGGAGTACTAGACAACCCTGTATATTCCATAGGGGCTCTTCTTGGTTCTATGGTAAGGCCCATAACTGTCCTGAAGGCCTTCAGTTTAGAAGATAACACTACTCTGCTATCAGAGTAGTTGGACATGTCACAACCCCCTGCTGAAATATCTTCAGTGACATCCCTCTCTCGGCCCCCACTGCCTTCAGGACAAGTCCAAACTCCTTAGCCAAGCCATAGGCCCTTCTCAGCTGGTCCCTGCCTACCTGTCCAGGCCCATGTCCATCCTCTTTCCCCAGATCCTGACACACCAGCAGTGCTTGGACATTTAGCTGCTCTGTAGTTCCAAGTCTTCTCACACCGGAGGCCTTTGCTCATGCTGTCTGTCTGCCTGACATGCCTTTTTTGTTCCTATCTGAACCTCTGCTCAGGTGTCACTTCCTTCAATCTTTCTCATGACTGATTTCCTCTCACTGAGAGCAGAAATCCTTCCTGTTCATCTTTGAGGCCCCCTCACCAAGCTCAGGCCAGTCCCATAGTGGGTACTCAGCTGATGCTGGTGAGTGAAAACCCACGCCCAAGGGCCTTGACCAGTGAGACAGGATAGGCCTGCGTTCCCAGGCAGGGAGTTCCTAAAAGCCCTTTCTTGGGCCAGACATGG
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Task1_train_20554
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A mutation found in LOC126862115, CAPN3 (BRD4-independent group 4 enhancer GRCh37_chr15:42677734-42678933| calpain 3) on Chromosome 15 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Autosomal recessive limb-girdle muscular dystrophy
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TAATAGCTACTGCGGCCGGGCGCGGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACAAGGTCAAGAGATGGAGACCATCCTGGCCAACATGGTGAAACCGTATCTCTACTAAAGATACAAAAATTAGCTGGGCATGGTGGCGCATGCCTATAGTCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATCACTTGAACCCCGGAGGCAGAGGTTTCAGTGAGCCAAGATTGCACCAGTGCACTGCAGCCTGGCGACAGAGTGAGACTCCGTCTCAAAAAAATACCTATCTATCTATCTGTCTATCTACTGTTATTCTTACCTGGTCATTTCCTTTTTGTTTCACAGGAAATTTGCGAGAATCCCCGATTTATCATTGATGGAGCCAACAGAACTGACATCTGTCAAGGAGAGCTAGGTAGGAAAGTGCCTCAGGTCAGATCCTGCCAGATGATCAAGGGGTGATTACAAGGTGTGATCCCCTTCCAGGAGGTAAAGGGACAATCTGTGCTTGCTTCCAGTAACTTTTTGGAAGATTTTTTATAACAGTTGCTTTATGGTCGTTTATCTACATGCTGGCGATTGCTTCATTTCCTCCTACATGCCTCTTTAGCACTCTGCCATGCATCACAGGGGGTATCTGCATCCTGTGGCCTCCTCTCCAGTATCTCAAGGACACTTACATACCCCACTCAGCATGACAAAAGCCCTGCTTTTCACTGTATCGTCTTTCTTGGAAGACAGCTCTGTGACTGTGCACCAAGCATGCCCCTTGGGCATGGAGATTCTAGATACACACACAAAAGGCATCGCCAAGGAAAGCACTTGTAACTGGAACCCTTGTTTAAATTGCCCCAGCATAGCTCCATCTTAAAAGAGTCTTTCCACAAAGATGGCATCCGCCATGTGGATGAGCATCCAATTTTCTCTTTGATTGGTTAGCTTGACTGCTCCATCTGATCTTCCTCTCTCTCGACCTCTTGTTCAGAAAGTATTGTCTTTGGTGTGGACTATAAGCAAGCTCTGTGAAGTAAAATTGGAGAGAACACCAACAGAAACAATTTAAATTTGAGGAAAAGGGGGCACCTAAGACCAAAGGAATTTGGCTTATTTCATTCCAGAAGGGGAGGCTGAGAATAAATCAGATGAATATCTGGGTTCCTGCACCTGAGGGAAGGCTTCCTGCAGAGCCCTGGGCATAATAATCTGGGACCTTCAAACCAATAACCTCTTTCCAAGGAAAGACTGGCTGCTTCCAAGGAGGGTAGGGGAGAGTGGCTGCAGGCAGCTCTCAGTCTCCCCTGCACACTCTCAGTTGCATTTCACTTAACCCATCCTCCTTAGAAGGCAGCTCTGTGACCAGGTACACCCCCTATTATATATATATATACACACACAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAGAGCAAAGTGTTACCTCCAACTACATACAGTACTCTGTCAGAAAAGAGGTTCAGAGAATAAGAAAACGTCCCGAGCTCATTCCGTTGCCAGCAATGTCTTACTGCCCCCTATAGACGGGTTCCAGGGCAGCTGCCTACCTGGCCTTCCTTCCAATACAAATCATCTTGGTGGATGGTTCTCTGAGGCTCAGTCTTCGCTGAAGTCAGAAGAGGAATTGGACTCACATTGCAAAGGCACAGGGCAGGGCAGATTTCCTACAGGTGTTAGGAAGAACAACCCAGTTATGATCACCTACTGCTCTGTCTCCATTGAGGCCTAAAAAGGAAGTGAGTTTATACTGCAGTTGGAGGAACTGCCTGCAGCCTTGAGGAAAATGTCTAGTCACAAGGGAGTAAGTTACCTGTTGATCATATTGTCAAGGAATTCCTGTCCAATTCTCCTTCCCTGGGTTGACACCTCTGTAAGGTCAGATCTGGAAGTAGGAGAGTGGGCACCAAGGGAGTCCCCGTTCAGGGAAGTGGAGTGGCTGGCTGGGATTGGGGCTTTTTCTTCCCAGGAGGAGCAGGAGTGCTCACGATCTGTGCCCTGTGTCTGCCTGCAGGGGACTGCTGGTTTCTCGCAGCCATTGCCTGCCTGACCCTGAACCAGCACCTTCTTTTCCGAGTCATACCCCATGATCAAAGTTTCATCGAAAACTACGCAGGGATCTTCCACTTCCAGGTGAGGTAATGAGAGTGTAGTTAAGAGGGCCAGCGGCAGGCCACCCACCGCTGGTCTCCTGGCCTTGACTTCCCAGAAGCTGGAGGAAACTTCCCACCCATCTACCCGCAGCGGCAACAGTCGGCATGGACCCCCTTAAGGCTTCAAGCCTGGGAGGAAGCAGTTGCTTATCTCTGGCTCCCTAATCCCTCCCCCACCACCTTCCACTATGTCCCAGAAAGACAGGAAGACATCCTGTTTACTGTGGGTCTATTTTTGTCTTTGCAGCTGTCTGGCTGCTTTTATTGCCTGCAGCCCTTCTCAAGTAGGTCCCTAAGATATTAGCACTGTGACACCACAGGACCCTTCAGGTTGTACAGGAACCCCTGTCCAGGGCTCCTGTATACTTCTTCCTCTCTAAGGCATGGCGGTACCAAGGCTATCACTCCTCTCTTCCAAGCCCTGGAAGAAGAGTCTGCTTAACCTGGGGATCAGGCTTCTTGTTTGCCCTAGAACTGAATCTGATGGTTCTAGAATCCATCCAGCTACTGGAAATTTTCTGGGTCCCAGTCACCTTGGCATAGAGCTGGTGCTAGAGCAGAACCAAACTGAATTCTACCTGTGAGGGTCTCGTAGCTTCCGGGATGCTGGGGAGTCAGCCTGTCTCCAGCTTCAAAGGCTCCCTCATGTCCCAGGATGACCCACATTATCAGTTCTTGCTCCCCGGGTCTTGCACCTCAGCACGGAAGGCCTCAGAAAAGGTCTGTCTCCAGGCTCAGACTCCCCCTCCTGCCGCCTTGGGAACATGGCATATTTAAAGGGTCTCAGATCTAAAGGGCCTTACATACAAATATCAGATAGATTTCTGTTCTCATTTCAATGAGGGAGAAAGTGCCATTGAAAAGGAGACTAAACCACATTTGGCCCTTTTCAGTTCAAACTGATTCATTCAAAAAAGAGCGACATCCAAACTTGAAATGATTGAACAATGTTCCTGCTACAGCTAGAATAGATTCTGGGTCACTTTGTTCCTCCGTTTCAATCCTTGTTCTTCAGTTTGGCATCAAGAAATACCTAAATCAGCACAGTGCCTTCACTGCATAGTTCCCAATCCTGGCCACATTGAATCAGCTGGGGGCACCTGAGAGTGCTGACACCCAGGCCCTGCCCCAGACCTGCTGAGCAGGAGAATGAAAATCTTACATCCTAAGACACTCATGGAGCACCTACTCTACCCATTACTGGGCTGGACTCTGTGGAAGACATGAAGTATATGTAACTCACTTCCAGCTCTCAAAAAGCACCCAGTCCAGTTAGAGACAGATTTACACACCCCAAACACAAAATAGGATGAACAGGCACCCAGATGCAGAGTCCAGGAAATGATGCTGCTTTGGGATTCAAGAACCCCCTGAGGAATGTGGAGGAAGGACACATTTCCTAACAGTAATTTGAGTATGTGACTCTGTGCGTGACGCTTCTGTGCAGTTCTGGCGCTATGGAGAGTGGGTGGACGTGGTTATAGATGACTGCCTGCCAACGTACAACAATCAACTGGTTTTCACCAAGTCCAACCACCGCAATGAGTTCTGGAGTGCTCTGCTGGAGAAGGCTTATGCTAAGTAAGCAACACTTTAGAATGTGAGGTGGGGCTAGAGGTGAGAAAGTGGGTTGCAAAATCCAGCCGAGACCTCACTCACAGGAAGAGGCATGTGCCTCTATACGTGCATATGTGTGGGCATGCAAGTCCAACTGTGACCCAAAGTTAGAGATCAGTTCCAGGCAACAACAGCTCTAACTAAAAACATTAAATTTAAGAGTAGAAATGAAGATTTGCATAGAAGACCTTTAGCTTTAGCTTACCATAGCGAGTTCTTTCATTGCACCTCCATGGTGGCATTGCAAGTCTTGGATCAGAGCATTGTATCTCTGGAGCTCAGATCCCAGGGT
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TAATAGCTACTGCGGCCGGGCGCGGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACAAGGTCAAGAGATGGAGACCATCCTGGCCAACATGGTGAAACCGTATCTCTACTAAAGATACAAAAATTAGCTGGGCATGGTGGCGCATGCCTATAGTCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATCACTTGAACCCCGGAGGCAGAGGTTTCAGTGAGCCAAGATTGCACCAGTGCACTGCAGCCTGGCGACAGAGTGAGACTCCGTCTCAAAAAAATACCTATCTATCTATCTGTCTATCTACTGTTATTCTTACCTGGTCATTTCCTTTTTGTTTCACAGGAAATTTGCGAGAATCCCCGATTTATCATTGATGGAGCCAACAGAACTGACATCTGTCAAGGAGAGCTAGGTAGGAAAGTGCCTCAGGTCAGATCCTGCCAGATGATCAAGGGGTGATTACAAGGTGTGATCCCCTTCCAGGAGGTAAAGGGACAATCTGTGCTTGCTTCCAGTAACTTTTTGGAAGATTTTTTATAACAGTTGCTTTATGGTCGTTTATCTACATGCTGGCGATTGCTTCATTTCCTCCTACATGCCTCTTTAGCACTCTGCCATGCATCACAGGGGGTATCTGCATCCTGTGGCCTCCTCTCCAGTATCTCAAGGACACTTACATACCCCACTCAGCATGACAAAAGCCCTGCTTTTCACTGTATCGTCTTTCTTGGAAGACAGCTCTGTGACTGTGCACCAAGCATGCCCCTTGGGCATGGAGATTCTAGATACACACACAAAAGGCATCGCCAAGGAAAGCACTTGTAACTGGAACCCTTGTTTAAATTGCCCCAGCATAGCTCCATCTTAAAAGAGTCTTTCCACAAAGATGGCATCCGCCATGTGGATGAGCATCCAATTTTCTCTTTGATTGGTTAGCTTGACTGCTCCATCTGATCTTCCTCTCTCTCGACCTCTTGTTCAGAAAGTATTGTCTTTGGTGTGGACTATAAGCAAGCTCTGTGAAGTAAAATTGGAGAGAACACCAACAGAAACAATTTAAATTTGAGGAAAAGGGGGCACCTAAGACCAAAGGAATTTGGCTTATTTCATTCCAGAAGGGGAGGCTGAGAATAAATCAGATGAATATCTGGGTTCCTGCACCTGAGGGAAGGCTTCCTGCAGAGCCCTGGGCATAATAATCTGGGACCTTCAAACCAATAACCTCTTTCCAAGGAAAGACTGGCTGCTTCCAAGGAGGGTAGGGGAGAGTGGCTGCAGGCAGCTCTCAGTCTCCCCTGCACACTCTCAGTTGCATTTCACTTAACCCATCCTCCTTAGAAGGCAGCTCTGTGACCAGGTACACCCCCTATTATATATATATATACACACACAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAGAGCAAAGTGTTACCTCCAACTACATACAGTACTCTGTCAGAAAAGAGGTTCAGAGAATAAGAAAACGTCCCGAGCTCATTCCGTTGCCAGCAATGTCTTACTGCCCCCTATAGACGGGTTCCAGGGCAGCTGCCTACCTGGCCTTCCTTCCAATACAAATCATCTTGGTGGATGGTTCTCTGAGGCTCAGTCTTCGCTGAAGTCAGAAGAGGAATTGGACTCACATTGCAAAGGCACAGGGCAGGGCAGATTTCCTACAGGTGTTAGGAAGAACAACCCAGTTATGATCACCTACTGCTCTGTCTCCATTGAGGCCTAAAAAGGAAGTGAGTTTATACTGCAGTTGGAGGAACTGCCTGCAGCCTTGAGGAAAATGTCTAGTCACAAGGGAGTAAGTTACCTGTTGATCATATTGTCAAGGAATTCCTGTCCAATTCTCCTTCCCTGGGTTGACACCTCTGTAAGGTCAGATCTGGAAGTAGGAGAGTGGGCACCAAGGGAGTCCCCGTTCAGGGAAGTGGAGTGGCTGGCTGGGATTGGGGCTTTTTCTTCCCAGGAGGAGCAGGAGTGCTCACGATCTGTGCCCTGTGTCTGCCTGCAGAGGACTGCTGGTTTCTCGCAGCCATTGCCTGCCTGACCCTGAACCAGCACCTTCTTTTCCGAGTCATACCCCATGATCAAAGTTTCATCGAAAACTACGCAGGGATCTTCCACTTCCAGGTGAGGTAATGAGAGTGTAGTTAAGAGGGCCAGCGGCAGGCCACCCACCGCTGGTCTCCTGGCCTTGACTTCCCAGAAGCTGGAGGAAACTTCCCACCCATCTACCCGCAGCGGCAACAGTCGGCATGGACCCCCTTAAGGCTTCAAGCCTGGGAGGAAGCAGTTGCTTATCTCTGGCTCCCTAATCCCTCCCCCACCACCTTCCACTATGTCCCAGAAAGACAGGAAGACATCCTGTTTACTGTGGGTCTATTTTTGTCTTTGCAGCTGTCTGGCTGCTTTTATTGCCTGCAGCCCTTCTCAAGTAGGTCCCTAAGATATTAGCACTGTGACACCACAGGACCCTTCAGGTTGTACAGGAACCCCTGTCCAGGGCTCCTGTATACTTCTTCCTCTCTAAGGCATGGCGGTACCAAGGCTATCACTCCTCTCTTCCAAGCCCTGGAAGAAGAGTCTGCTTAACCTGGGGATCAGGCTTCTTGTTTGCCCTAGAACTGAATCTGATGGTTCTAGAATCCATCCAGCTACTGGAAATTTTCTGGGTCCCAGTCACCTTGGCATAGAGCTGGTGCTAGAGCAGAACCAAACTGAATTCTACCTGTGAGGGTCTCGTAGCTTCCGGGATGCTGGGGAGTCAGCCTGTCTCCAGCTTCAAAGGCTCCCTCATGTCCCAGGATGACCCACATTATCAGTTCTTGCTCCCCGGGTCTTGCACCTCAGCACGGAAGGCCTCAGAAAAGGTCTGTCTCCAGGCTCAGACTCCCCCTCCTGCCGCCTTGGGAACATGGCATATTTAAAGGGTCTCAGATCTAAAGGGCCTTACATACAAATATCAGATAGATTTCTGTTCTCATTTCAATGAGGGAGAAAGTGCCATTGAAAAGGAGACTAAACCACATTTGGCCCTTTTCAGTTCAAACTGATTCATTCAAAAAAGAGCGACATCCAAACTTGAAATGATTGAACAATGTTCCTGCTACAGCTAGAATAGATTCTGGGTCACTTTGTTCCTCCGTTTCAATCCTTGTTCTTCAGTTTGGCATCAAGAAATACCTAAATCAGCACAGTGCCTTCACTGCATAGTTCCCAATCCTGGCCACATTGAATCAGCTGGGGGCACCTGAGAGTGCTGACACCCAGGCCCTGCCCCAGACCTGCTGAGCAGGAGAATGAAAATCTTACATCCTAAGACACTCATGGAGCACCTACTCTACCCATTACTGGGCTGGACTCTGTGGAAGACATGAAGTATATGTAACTCACTTCCAGCTCTCAAAAAGCACCCAGTCCAGTTAGAGACAGATTTACACACCCCAAACACAAAATAGGATGAACAGGCACCCAGATGCAGAGTCCAGGAAATGATGCTGCTTTGGGATTCAAGAACCCCCTGAGGAATGTGGAGGAAGGACACATTTCCTAACAGTAATTTGAGTATGTGACTCTGTGCGTGACGCTTCTGTGCAGTTCTGGCGCTATGGAGAGTGGGTGGACGTGGTTATAGATGACTGCCTGCCAACGTACAACAATCAACTGGTTTTCACCAAGTCCAACCACCGCAATGAGTTCTGGAGTGCTCTGCTGGAGAAGGCTTATGCTAAGTAAGCAACACTTTAGAATGTGAGGTGGGGCTAGAGGTGAGAAAGTGGGTTGCAAAATCCAGCCGAGACCTCACTCACAGGAAGAGGCATGTGCCTCTATACGTGCATATGTGTGGGCATGCAAGTCCAACTGTGACCCAAAGTTAGAGATCAGTTCCAGGCAACAACAGCTCTAACTAAAAACATTAAATTTAAGAGTAGAAATGAAGATTTGCATAGAAGACCTTTAGCTTTAGCTTACCATAGCGAGTTCTTTCATTGCACCTCCATGGTGGCATTGCAAGTCTTGGATCAGAGCATTGTATCTCTGGAGCTCAGATCCCAGGGT
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Task1_train_20555
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This mutation occurs in CAPN3 (calpain 3) on Chromosome 15. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2A
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GGGTCTTGCACCTCAGCACGGAAGGCCTCAGAAAAGGTCTGTCTCCAGGCTCAGACTCCCCCTCCTGCCGCCTTGGGAACATGGCATATTTAAAGGGTCTCAGATCTAAAGGGCCTTACATACAAATATCAGATAGATTTCTGTTCTCATTTCAATGAGGGAGAAAGTGCCATTGAAAAGGAGACTAAACCACATTTGGCCCTTTTCAGTTCAAACTGATTCATTCAAAAAAGAGCGACATCCAAACTTGAAATGATTGAACAATGTTCCTGCTACAGCTAGAATAGATTCTGGGTCACTTTGTTCCTCCGTTTCAATCCTTGTTCTTCAGTTTGGCATCAAGAAATACCTAAATCAGCACAGTGCCTTCACTGCATAGTTCCCAATCCTGGCCACATTGAATCAGCTGGGGGCACCTGAGAGTGCTGACACCCAGGCCCTGCCCCAGACCTGCTGAGCAGGAGAATGAAAATCTTACATCCTAAGACACTCATGGAGCACCTACTCTACCCATTACTGGGCTGGACTCTGTGGAAGACATGAAGTATATGTAACTCACTTCCAGCTCTCAAAAAGCACCCAGTCCAGTTAGAGACAGATTTACACACCCCAAACACAAAATAGGATGAACAGGCACCCAGATGCAGAGTCCAGGAAATGATGCTGCTTTGGGATTCAAGAACCCCCTGAGGAATGTGGAGGAAGGACACATTTCCTAACAGTAATTTGAGTATGTGACTCTGTGCGTGACGCTTCTGTGCAGTTCTGGCGCTATGGAGAGTGGGTGGACGTGGTTATAGATGACTGCCTGCCAACGTACAACAATCAACTGGTTTTCACCAAGTCCAACCACCGCAATGAGTTCTGGAGTGCTCTGCTGGAGAAGGCTTATGCTAAGTAAGCAACACTTTAGAATGTGAGGTGGGGCTAGAGGTGAGAAAGTGGGTTGCAAAATCCAGCCGAGACCTCACTCACAGGAAGAGGCATGTGCCTCTATACGTGCATATGTGTGGGCATGCAAGTCCAACTGTGACCCAAAGTTAGAGATCAGTTCCAGGCAACAACAGCTCTAACTAAAAACATTAAATTTAAGAGTAGAAATGAAGATTTGCATAGAAGACCTTTAGCTTTAGCTTACCATAGCGAGTTCTTTCATTGCACCTCCATGGTGGCATTGCAAGTCTTGGATCAGAGCATTGTATCTCTGGAGCTCAGATCCCAGGGTCTCGCTTGGCTCAACCTCATGTGCTTATAGCAGATTTATAAAGCCATGTTGTCTCTCAACTTAAAAGCTCCACCCCAGATGCTAATAATGGATTTTTTAAATTTTTTTGAAACAAGGTCTCACTCTGTAATGCAGGCTGGAGTGCAGTGGTGCAGTCACGGCTCACTGCAGCATTGACCTCCTGGGTTCAAGGTGCTCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACATGCGGGCATCACCATGCCCAGTTAATTTTTGTATTTTTTTGTAGAGACGGGGTTTTGCCATGTTGCCCAGACTGGTCTCGAACTCTTGGGCTCATGCAATCCACCAGCCTTGGCCTCCCGAAGCGCTGGGATTGCCGGTGTGAGCCACCACACCGGCAGCTGCTAATGGCTTTAATGCAGCCCTTCCTCAACGTTCAGGATGTAGTGGAAAGAGCTCTCAGGAAGTGGGGATAGCTGGGTTTCAATCCCAGTGCTTCTGGCTCTCTGTGGTCTTGGGTGGGTCACTTAGCCTCTTGAGCTCAGTTTCTTCATTATGAAGAAAGGGAATCATTGTTTCCATCCCATGAGCTCATAGGGTTAATGTGGAATTGATGAAAGAACATCACAGCATCCAAGAGGTAAAGTTCTGGTGGCAGTGGTACCTGGGTTTTGTTCCCTGGAACTCTGTGACCCCAAATTGGTCTTCATCCTCTCTCTAAGGCTCCATGGTTCCTACGAAGCTCTGAAAGGTGGGAACACCACAGAGGCCATGGAGGACTTCACAGGAGGGGTGGCAGAGTTTTTTGAGATCAGGGATGCTCCTAGTGACATGTACAAGATCATGAAGAAAGCCATCGAGAGAGGCTCCCTCATGGGCTGCTCCATTGATGTAAGTCTGGGGTGTGGGGCACAGGGTGGGGAGCTCCAAGTGTCAGGAAGCCTTTTACCCAATGAAGGGCAGCATAGAGCTTTTGTGTGGGACAGAGCGAATGTTTTGTTTGAGGAAGCAGGAACTGGCTCTCAACTTTGAGGACTGGGAATTTCTCAAGGGAGAACAGTTCTTCCGGATTTTCAATAAAGACACTGGTCAAGGACATTTCAAGCCCTGGAATGTCAGTGGAAATCAGTCCAGAGGCCTGTGTCAGTGGAGGCCTCCCTTGCTGGTGCTCCTCAGTCTCAGCACGCTCCCATTAAGCTGGCCACGTACTTGGCTGTGGACCTGAGCCCACCATTTCCCTAAGAAAGCCTCCCAGTCACTGGGCTTTCACCACACCTCCCCGCTTGAGACGTGGGCTTTGTGTTGTTACCTGGGAGAAGCTAAGCCTGCAGCACCTTTCAGTGCAAAGAAATGCTGTGAACTGAGACAGGAGCCAAGGGTAGGGAGATGGCCGCCCATGGCCAGGCCTCCTTCAGGGGGCATGCCTTCCCTGAGGGCTGCTCAGTATATTGATATGATAATCTTAGTGGTTTCCATTGGGGAGGATGGGGCTGAAGCTGAATTCCTGCCCCTTCTTCTCCCAACACGCCCAATGGACAGCTTGGAAGGTCAGTTAGCACACAACACCATGGATGAACTTTTTTTCTGTATCACTTTTCTCCGTCTTTCCTCCATTCGTGCTCTGTTGATCTCTCCTCTCTCCCTTTGTCTGTCCCATCTCTTTCTCCTCTCTCCTTCCCTTTCCACCCTTCTGTGTTTGTTCTCTCCCTCCCCTGTGTTGTTCCCTACATTCTCCATCGGGCCTCAGGATGGCACGAACATGACCTATGGAACCTCTCCTTCTGGTCTGAACATGGGGGAGTTGATTGCACGGATGGTAAGGAATATGGATAACTCACTGCTCCAGGACTCAGACCTCGACCCCAGAGGCTCAGATGAAAGACCGACCCGGGTGTGTACACCTCCGATTATCAGAACTGACCATCCCTCCAACCCACATGACCCCGCCCTATTAGTGTCAGACTCCCCTCAGCAGCCAGGGCCTTACCCACACACCCCCACCTGGCACCTCCCAAGGGTCTGGGTTGAAATAACTTGCTCAGCCAAGGCTCCTGAAGAGGGTGCAAGAACCAGGATTTTGGAGGGAATCTCTGCTGGAGTTTCTGCATATTCCATGGTCCAGGCAGTTCCTCTCATAACGAACTATCAGACAGAAATACTTGTAAAGATACTTCATTTATTTTGAAATATTTTTCCTCTTCTAATGTATTCATTTATTCATTCAACACTTATTTTTGAGCTCCTACTATGTTCCAGGCACTCCTCTAGCAAACAAAGCAAATTCTCTCCTCTTTTTCAATATTTGTGGAAAAAGCAAGGTCTCCCTCTTGTAGAGTTTATATTCTAGTATTTTCATAAGTTATACCTGCTCACTGGAGAATACTGAGCCATACAGAAAAACACAGAGGAAAATTTCACTTATATTTTTCCCCATGTAAAGATAACCACTCTTAACATCTAGTATATGTTCTTCCAGGATTTTTCTATGCACACACTGAATCTGTATTTTTATTTTTAAAATGTTATCATATTGTATGTACCTCTTTGCAGCCTGCTTTTTTCAGTTAGTTTTTTTTGTTTTTTTGTTTTTTTTTTTTTTTTTGGAAACCAAGTCTTGCTCTATTCCCTAGGCTGGAGCACAGTGGTGCCATCTCGGCTCACTGCAACCTCTGCCTCCAAAGTTAAACTAATTCTCCTGCCTCAGCCTCCCGACATAGCTGGGATTACAGGCACACACCACCACACATGGCTAATTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCATGTTGGCTGGAATGGTCTTGAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTAAGCCACCACA
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GGGTCTTGCACCTCAGCACGGAAGGCCTCAGAAAAGGTCTGTCTCCAGGCTCAGACTCCCCCTCCTGCCGCCTTGGGAACATGGCATATTTAAAGGGTCTCAGATCTAAAGGGCCTTACATACAAATATCAGATAGATTTCTGTTCTCATTTCAATGAGGGAGAAAGTGCCATTGAAAAGGAGACTAAACCACATTTGGCCCTTTTCAGTTCAAACTGATTCATTCAAAAAAGAGCGACATCCAAACTTGAAATGATTGAACAATGTTCCTGCTACAGCTAGAATAGATTCTGGGTCACTTTGTTCCTCCGTTTCAATCCTTGTTCTTCAGTTTGGCATCAAGAAATACCTAAATCAGCACAGTGCCTTCACTGCATAGTTCCCAATCCTGGCCACATTGAATCAGCTGGGGGCACCTGAGAGTGCTGACACCCAGGCCCTGCCCCAGACCTGCTGAGCAGGAGAATGAAAATCTTACATCCTAAGACACTCATGGAGCACCTACTCTACCCATTACTGGGCTGGACTCTGTGGAAGACATGAAGTATATGTAACTCACTTCCAGCTCTCAAAAAGCACCCAGTCCAGTTAGAGACAGATTTACACACCCCAAACACAAAATAGGATGAACAGGCACCCAGATGCAGAGTCCAGGAAATGATGCTGCTTTGGGATTCAAGAACCCCCTGAGGAATGTGGAGGAAGGACACATTTCCTAACAGTAATTTGAGTATGTGACTCTGTGCGTGACGCTTCTGTGCAGTTCTGGCGCTATGGAGAGTGGGTGGACGTGGTTATAGATGACTGCCTGCCAACGTACAACAATCAACTGGTTTTCACCAAGTCCAACCACCGCAATGAGTTCTGGAGTGCTCTGCTGGAGAAGGCTTATGCTAAGTAAGCAACACTTTAGAATGTGAGGTGGGGCTAGAGGTGAGAAAGTGGGTTGCAAAATCCAGCCGAGACCTCACTCACAGGAAGAGGCATGTGCCTCTATACGTGCATATGTGTGGGCATGCAAGTCCAACTGTGACCCAAAGTTAGAGATCAGTTCCAGGCAACAACAGCTCTAACTAAAAACATTAAATTTAAGAGTAGAAATGAAGATTTGCATAGAAGACCTTTAGCTTTAGCTTACCATAGCGAGTTCTTTCATTGCACCTCCATGGTGGCATTGCAAGTCTTGGATCAGAGCATTGTATCTCTGGAGCTCAGATCCCAGGGTCTCGCTTGGCTCAACCTCATGTGCTTATAGCAGATTTATAAAGCCATGTTGTCTCTCAACTTAAAAGCTCCACCCCAGATGCTAATAATGGATTTTTTAAATTTTTTTGAAACAAGGTCTCACTCTGTAATGCAGGCTGGAGTGCAGTGGTGCAGTCACGGCTCACTGCAGCATTGACCTCCTGGGTTCAAGGTGCTCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACATGCGGGCATCACCATGCCCAGTTAATTTTTGTATTTTTTTGTAGAGACGGGGTTTTGCCATGTTGCCCAGACTGGTCTCGAACTCTTGGGCTCATGCAATCCACCAGCCTTGGCCTCCCGAAGCGCTGGGATTGCCGGTGTGAGCCACCACACCGGCAGCTGCTAATGGCTTTAATGCAGCCCTTCCTCAACGTTCAGGATGTAGTGGAAAGAGCTCTCAGGAAGTGGGGATAGCTGGGTTTCAATCCCAGTGCTTCTGGCTCTCTGTGGTCTTGGGTGGGTCACTTAGCCTCTTGAGCTCAGTTTCTTCATTATGAAGAAAGGGAATCATTGTTTCCATCCCATGAGCTCATAGGGTTAATGTGGAATTGATGAAAGAACATCACAGCATCCAAGAGGTAAAGTTCTGGTGGCAGTGGTACCTGGGTTTTGTTCCCTGGAACTCTGTGACCCCAAATTGGTCTTCATCCTCTCTCTAAGGCTCCATGGTTCCTACGAAGCTCTGAAAGGTGGGAACACCACAGAGGCCATGGAGGACTTCACAGGAGGGGTGGCAGAGTTTTTTGAGATCAGGGATGCTCCTAGTGACAGGTACAAGATCATGAAGAAAGCCATCGAGAGAGGCTCCCTCATGGGCTGCTCCATTGATGTAAGTCTGGGGTGTGGGGCACAGGGTGGGGAGCTCCAAGTGTCAGGAAGCCTTTTACCCAATGAAGGGCAGCATAGAGCTTTTGTGTGGGACAGAGCGAATGTTTTGTTTGAGGAAGCAGGAACTGGCTCTCAACTTTGAGGACTGGGAATTTCTCAAGGGAGAACAGTTCTTCCGGATTTTCAATAAAGACACTGGTCAAGGACATTTCAAGCCCTGGAATGTCAGTGGAAATCAGTCCAGAGGCCTGTGTCAGTGGAGGCCTCCCTTGCTGGTGCTCCTCAGTCTCAGCACGCTCCCATTAAGCTGGCCACGTACTTGGCTGTGGACCTGAGCCCACCATTTCCCTAAGAAAGCCTCCCAGTCACTGGGCTTTCACCACACCTCCCCGCTTGAGACGTGGGCTTTGTGTTGTTACCTGGGAGAAGCTAAGCCTGCAGCACCTTTCAGTGCAAAGAAATGCTGTGAACTGAGACAGGAGCCAAGGGTAGGGAGATGGCCGCCCATGGCCAGGCCTCCTTCAGGGGGCATGCCTTCCCTGAGGGCTGCTCAGTATATTGATATGATAATCTTAGTGGTTTCCATTGGGGAGGATGGGGCTGAAGCTGAATTCCTGCCCCTTCTTCTCCCAACACGCCCAATGGACAGCTTGGAAGGTCAGTTAGCACACAACACCATGGATGAACTTTTTTTCTGTATCACTTTTCTCCGTCTTTCCTCCATTCGTGCTCTGTTGATCTCTCCTCTCTCCCTTTGTCTGTCCCATCTCTTTCTCCTCTCTCCTTCCCTTTCCACCCTTCTGTGTTTGTTCTCTCCCTCCCCTGTGTTGTTCCCTACATTCTCCATCGGGCCTCAGGATGGCACGAACATGACCTATGGAACCTCTCCTTCTGGTCTGAACATGGGGGAGTTGATTGCACGGATGGTAAGGAATATGGATAACTCACTGCTCCAGGACTCAGACCTCGACCCCAGAGGCTCAGATGAAAGACCGACCCGGGTGTGTACACCTCCGATTATCAGAACTGACCATCCCTCCAACCCACATGACCCCGCCCTATTAGTGTCAGACTCCCCTCAGCAGCCAGGGCCTTACCCACACACCCCCACCTGGCACCTCCCAAGGGTCTGGGTTGAAATAACTTGCTCAGCCAAGGCTCCTGAAGAGGGTGCAAGAACCAGGATTTTGGAGGGAATCTCTGCTGGAGTTTCTGCATATTCCATGGTCCAGGCAGTTCCTCTCATAACGAACTATCAGACAGAAATACTTGTAAAGATACTTCATTTATTTTGAAATATTTTTCCTCTTCTAATGTATTCATTTATTCATTCAACACTTATTTTTGAGCTCCTACTATGTTCCAGGCACTCCTCTAGCAAACAAAGCAAATTCTCTCCTCTTTTTCAATATTTGTGGAAAAAGCAAGGTCTCCCTCTTGTAGAGTTTATATTCTAGTATTTTCATAAGTTATACCTGCTCACTGGAGAATACTGAGCCATACAGAAAAACACAGAGGAAAATTTCACTTATATTTTTCCCCATGTAAAGATAACCACTCTTAACATCTAGTATATGTTCTTCCAGGATTTTTCTATGCACACACTGAATCTGTATTTTTATTTTTAAAATGTTATCATATTGTATGTACCTCTTTGCAGCCTGCTTTTTTCAGTTAGTTTTTTTTGTTTTTTTGTTTTTTTTTTTTTTTTTGGAAACCAAGTCTTGCTCTATTCCCTAGGCTGGAGCACAGTGGTGCCATCTCGGCTCACTGCAACCTCTGCCTCCAAAGTTAAACTAATTCTCCTGCCTCAGCCTCCCGACATAGCTGGGATTACAGGCACACACCACCACACATGGCTAATTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCATGTTGGCTGGAATGGTCTTGAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTAAGCCACCACA
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Task1_train_20556
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This variant lies on Chromosome 15 and affects the gene CAPN3 (calpain 3). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Muscular dystrophy, limb-girdle, autosomal dominant 4
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GGGTCTTGCACCTCAGCACGGAAGGCCTCAGAAAAGGTCTGTCTCCAGGCTCAGACTCCCCCTCCTGCCGCCTTGGGAACATGGCATATTTAAAGGGTCTCAGATCTAAAGGGCCTTACATACAAATATCAGATAGATTTCTGTTCTCATTTCAATGAGGGAGAAAGTGCCATTGAAAAGGAGACTAAACCACATTTGGCCCTTTTCAGTTCAAACTGATTCATTCAAAAAAGAGCGACATCCAAACTTGAAATGATTGAACAATGTTCCTGCTACAGCTAGAATAGATTCTGGGTCACTTTGTTCCTCCGTTTCAATCCTTGTTCTTCAGTTTGGCATCAAGAAATACCTAAATCAGCACAGTGCCTTCACTGCATAGTTCCCAATCCTGGCCACATTGAATCAGCTGGGGGCACCTGAGAGTGCTGACACCCAGGCCCTGCCCCAGACCTGCTGAGCAGGAGAATGAAAATCTTACATCCTAAGACACTCATGGAGCACCTACTCTACCCATTACTGGGCTGGACTCTGTGGAAGACATGAAGTATATGTAACTCACTTCCAGCTCTCAAAAAGCACCCAGTCCAGTTAGAGACAGATTTACACACCCCAAACACAAAATAGGATGAACAGGCACCCAGATGCAGAGTCCAGGAAATGATGCTGCTTTGGGATTCAAGAACCCCCTGAGGAATGTGGAGGAAGGACACATTTCCTAACAGTAATTTGAGTATGTGACTCTGTGCGTGACGCTTCTGTGCAGTTCTGGCGCTATGGAGAGTGGGTGGACGTGGTTATAGATGACTGCCTGCCAACGTACAACAATCAACTGGTTTTCACCAAGTCCAACCACCGCAATGAGTTCTGGAGTGCTCTGCTGGAGAAGGCTTATGCTAAGTAAGCAACACTTTAGAATGTGAGGTGGGGCTAGAGGTGAGAAAGTGGGTTGCAAAATCCAGCCGAGACCTCACTCACAGGAAGAGGCATGTGCCTCTATACGTGCATATGTGTGGGCATGCAAGTCCAACTGTGACCCAAAGTTAGAGATCAGTTCCAGGCAACAACAGCTCTAACTAAAAACATTAAATTTAAGAGTAGAAATGAAGATTTGCATAGAAGACCTTTAGCTTTAGCTTACCATAGCGAGTTCTTTCATTGCACCTCCATGGTGGCATTGCAAGTCTTGGATCAGAGCATTGTATCTCTGGAGCTCAGATCCCAGGGTCTCGCTTGGCTCAACCTCATGTGCTTATAGCAGATTTATAAAGCCATGTTGTCTCTCAACTTAAAAGCTCCACCCCAGATGCTAATAATGGATTTTTTAAATTTTTTTGAAACAAGGTCTCACTCTGTAATGCAGGCTGGAGTGCAGTGGTGCAGTCACGGCTCACTGCAGCATTGACCTCCTGGGTTCAAGGTGCTCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACATGCGGGCATCACCATGCCCAGTTAATTTTTGTATTTTTTTGTAGAGACGGGGTTTTGCCATGTTGCCCAGACTGGTCTCGAACTCTTGGGCTCATGCAATCCACCAGCCTTGGCCTCCCGAAGCGCTGGGATTGCCGGTGTGAGCCACCACACCGGCAGCTGCTAATGGCTTTAATGCAGCCCTTCCTCAACGTTCAGGATGTAGTGGAAAGAGCTCTCAGGAAGTGGGGATAGCTGGGTTTCAATCCCAGTGCTTCTGGCTCTCTGTGGTCTTGGGTGGGTCACTTAGCCTCTTGAGCTCAGTTTCTTCATTATGAAGAAAGGGAATCATTGTTTCCATCCCATGAGCTCATAGGGTTAATGTGGAATTGATGAAAGAACATCACAGCATCCAAGAGGTAAAGTTCTGGTGGCAGTGGTACCTGGGTTTTGTTCCCTGGAACTCTGTGACCCCAAATTGGTCTTCATCCTCTCTCTAAGGCTCCATGGTTCCTACGAAGCTCTGAAAGGTGGGAACACCACAGAGGCCATGGAGGACTTCACAGGAGGGGTGGCAGAGTTTTTTGAGATCAGGGATGCTCCTAGTGACATGTACAAGATCATGAAGAAAGCCATCGAGAGAGGCTCCCTCATGGGCTGCTCCATTGATGTAAGTCTGGGGTGTGGGGCACAGGGTGGGGAGCTCCAAGTGTCAGGAAGCCTTTTACCCAATGAAGGGCAGCATAGAGCTTTTGTGTGGGACAGAGCGAATGTTTTGTTTGAGGAAGCAGGAACTGGCTCTCAACTTTGAGGACTGGGAATTTCTCAAGGGAGAACAGTTCTTCCGGATTTTCAATAAAGACACTGGTCAAGGACATTTCAAGCCCTGGAATGTCAGTGGAAATCAGTCCAGAGGCCTGTGTCAGTGGAGGCCTCCCTTGCTGGTGCTCCTCAGTCTCAGCACGCTCCCATTAAGCTGGCCACGTACTTGGCTGTGGACCTGAGCCCACCATTTCCCTAAGAAAGCCTCCCAGTCACTGGGCTTTCACCACACCTCCCCGCTTGAGACGTGGGCTTTGTGTTGTTACCTGGGAGAAGCTAAGCCTGCAGCACCTTTCAGTGCAAAGAAATGCTGTGAACTGAGACAGGAGCCAAGGGTAGGGAGATGGCCGCCCATGGCCAGGCCTCCTTCAGGGGGCATGCCTTCCCTGAGGGCTGCTCAGTATATTGATATGATAATCTTAGTGGTTTCCATTGGGGAGGATGGGGCTGAAGCTGAATTCCTGCCCCTTCTTCTCCCAACACGCCCAATGGACAGCTTGGAAGGTCAGTTAGCACACAACACCATGGATGAACTTTTTTTCTGTATCACTTTTCTCCGTCTTTCCTCCATTCGTGCTCTGTTGATCTCTCCTCTCTCCCTTTGTCTGTCCCATCTCTTTCTCCTCTCTCCTTCCCTTTCCACCCTTCTGTGTTTGTTCTCTCCCTCCCCTGTGTTGTTCCCTACATTCTCCATCGGGCCTCAGGATGGCACGAACATGACCTATGGAACCTCTCCTTCTGGTCTGAACATGGGGGAGTTGATTGCACGGATGGTAAGGAATATGGATAACTCACTGCTCCAGGACTCAGACCTCGACCCCAGAGGCTCAGATGAAAGACCGACCCGGGTGTGTACACCTCCGATTATCAGAACTGACCATCCCTCCAACCCACATGACCCCGCCCTATTAGTGTCAGACTCCCCTCAGCAGCCAGGGCCTTACCCACACACCCCCACCTGGCACCTCCCAAGGGTCTGGGTTGAAATAACTTGCTCAGCCAAGGCTCCTGAAGAGGGTGCAAGAACCAGGATTTTGGAGGGAATCTCTGCTGGAGTTTCTGCATATTCCATGGTCCAGGCAGTTCCTCTCATAACGAACTATCAGACAGAAATACTTGTAAAGATACTTCATTTATTTTGAAATATTTTTCCTCTTCTAATGTATTCATTTATTCATTCAACACTTATTTTTGAGCTCCTACTATGTTCCAGGCACTCCTCTAGCAAACAAAGCAAATTCTCTCCTCTTTTTCAATATTTGTGGAAAAAGCAAGGTCTCCCTCTTGTAGAGTTTATATTCTAGTATTTTCATAAGTTATACCTGCTCACTGGAGAATACTGAGCCATACAGAAAAACACAGAGGAAAATTTCACTTATATTTTTCCCCATGTAAAGATAACCACTCTTAACATCTAGTATATGTTCTTCCAGGATTTTTCTATGCACACACTGAATCTGTATTTTTATTTTTAAAATGTTATCATATTGTATGTACCTCTTTGCAGCCTGCTTTTTTCAGTTAGTTTTTTTTGTTTTTTTGTTTTTTTTTTTTTTTTTGGAAACCAAGTCTTGCTCTATTCCCTAGGCTGGAGCACAGTGGTGCCATCTCGGCTCACTGCAACCTCTGCCTCCAAAGTTAAACTAATTCTCCTGCCTCAGCCTCCCGACATAGCTGGGATTACAGGCACACACCACCACACATGGCTAATTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCATGTTGGCTGGAATGGTCTTGAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTAAGCCACCACA
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GGGTCTTGCACCTCAGCACGGAAGGCCTCAGAAAAGGTCTGTCTCCAGGCTCAGACTCCCCCTCCTGCCGCCTTGGGAACATGGCATATTTAAAGGGTCTCAGATCTAAAGGGCCTTACATACAAATATCAGATAGATTTCTGTTCTCATTTCAATGAGGGAGAAAGTGCCATTGAAAAGGAGACTAAACCACATTTGGCCCTTTTCAGTTCAAACTGATTCATTCAAAAAAGAGCGACATCCAAACTTGAAATGATTGAACAATGTTCCTGCTACAGCTAGAATAGATTCTGGGTCACTTTGTTCCTCCGTTTCAATCCTTGTTCTTCAGTTTGGCATCAAGAAATACCTAAATCAGCACAGTGCCTTCACTGCATAGTTCCCAATCCTGGCCACATTGAATCAGCTGGGGGCACCTGAGAGTGCTGACACCCAGGCCCTGCCCCAGACCTGCTGAGCAGGAGAATGAAAATCTTACATCCTAAGACACTCATGGAGCACCTACTCTACCCATTACTGGGCTGGACTCTGTGGAAGACATGAAGTATATGTAACTCACTTCCAGCTCTCAAAAAGCACCCAGTCCAGTTAGAGACAGATTTACACACCCCAAACACAAAATAGGATGAACAGGCACCCAGATGCAGAGTCCAGGAAATGATGCTGCTTTGGGATTCAAGAACCCCCTGAGGAATGTGGAGGAAGGACACATTTCCTAACAGTAATTTGAGTATGTGACTCTGTGCGTGACGCTTCTGTGCAGTTCTGGCGCTATGGAGAGTGGGTGGACGTGGTTATAGATGACTGCCTGCCAACGTACAACAATCAACTGGTTTTCACCAAGTCCAACCACCGCAATGAGTTCTGGAGTGCTCTGCTGGAGAAGGCTTATGCTAAGTAAGCAACACTTTAGAATGTGAGGTGGGGCTAGAGGTGAGAAAGTGGGTTGCAAAATCCAGCCGAGACCTCACTCACAGGAAGAGGCATGTGCCTCTATACGTGCATATGTGTGGGCATGCAAGTCCAACTGTGACCCAAAGTTAGAGATCAGTTCCAGGCAACAACAGCTCTAACTAAAAACATTAAATTTAAGAGTAGAAATGAAGATTTGCATAGAAGACCTTTAGCTTTAGCTTACCATAGCGAGTTCTTTCATTGCACCTCCATGGTGGCATTGCAAGTCTTGGATCAGAGCATTGTATCTCTGGAGCTCAGATCCCAGGGTCTCGCTTGGCTCAACCTCATGTGCTTATAGCAGATTTATAAAGCCATGTTGTCTCTCAACTTAAAAGCTCCACCCCAGATGCTAATAATGGATTTTTTAAATTTTTTTGAAACAAGGTCTCACTCTGTAATGCAGGCTGGAGTGCAGTGGTGCAGTCACGGCTCACTGCAGCATTGACCTCCTGGGTTCAAGGTGCTCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACATGCGGGCATCACCATGCCCAGTTAATTTTTGTATTTTTTTGTAGAGACGGGGTTTTGCCATGTTGCCCAGACTGGTCTCGAACTCTTGGGCTCATGCAATCCACCAGCCTTGGCCTCCCGAAGCGCTGGGATTGCCGGTGTGAGCCACCACACCGGCAGCTGCTAATGGCTTTAATGCAGCCCTTCCTCAACGTTCAGGATGTAGTGGAAAGAGCTCTCAGGAAGTGGGGATAGCTGGGTTTCAATCCCAGTGCTTCTGGCTCTCTGTGGTCTTGGGTGGGTCACTTAGCCTCTTGAGCTCAGTTTCTTCATTATGAAGAAAGGGAATCATTGTTTCCATCCCATGAGCTCATAGGGTTAATGTGGAATTGATGAAAGAACATCACAGCATCCAAGAGGTAAAGTTCTGGTGGCAGTGGTACCTGGGTTTTGTTCCCTGGAACTCTGTGACCCCAAATTGGTCTTCATCCTCTCTCTAAGGCTCCATGGTTCCTACGAAGCTCTGAAAGGTGGGAACACCACAGAGGCCATGGAGGACTTCACAGGAGGGGTGGCAGAGTTTTTTGAGATCAGGGATGCTCCTAGTGACAGGTACAAGATCATGAAGAAAGCCATCGAGAGAGGCTCCCTCATGGGCTGCTCCATTGATGTAAGTCTGGGGTGTGGGGCACAGGGTGGGGAGCTCCAAGTGTCAGGAAGCCTTTTACCCAATGAAGGGCAGCATAGAGCTTTTGTGTGGGACAGAGCGAATGTTTTGTTTGAGGAAGCAGGAACTGGCTCTCAACTTTGAGGACTGGGAATTTCTCAAGGGAGAACAGTTCTTCCGGATTTTCAATAAAGACACTGGTCAAGGACATTTCAAGCCCTGGAATGTCAGTGGAAATCAGTCCAGAGGCCTGTGTCAGTGGAGGCCTCCCTTGCTGGTGCTCCTCAGTCTCAGCACGCTCCCATTAAGCTGGCCACGTACTTGGCTGTGGACCTGAGCCCACCATTTCCCTAAGAAAGCCTCCCAGTCACTGGGCTTTCACCACACCTCCCCGCTTGAGACGTGGGCTTTGTGTTGTTACCTGGGAGAAGCTAAGCCTGCAGCACCTTTCAGTGCAAAGAAATGCTGTGAACTGAGACAGGAGCCAAGGGTAGGGAGATGGCCGCCCATGGCCAGGCCTCCTTCAGGGGGCATGCCTTCCCTGAGGGCTGCTCAGTATATTGATATGATAATCTTAGTGGTTTCCATTGGGGAGGATGGGGCTGAAGCTGAATTCCTGCCCCTTCTTCTCCCAACACGCCCAATGGACAGCTTGGAAGGTCAGTTAGCACACAACACCATGGATGAACTTTTTTTCTGTATCACTTTTCTCCGTCTTTCCTCCATTCGTGCTCTGTTGATCTCTCCTCTCTCCCTTTGTCTGTCCCATCTCTTTCTCCTCTCTCCTTCCCTTTCCACCCTTCTGTGTTTGTTCTCTCCCTCCCCTGTGTTGTTCCCTACATTCTCCATCGGGCCTCAGGATGGCACGAACATGACCTATGGAACCTCTCCTTCTGGTCTGAACATGGGGGAGTTGATTGCACGGATGGTAAGGAATATGGATAACTCACTGCTCCAGGACTCAGACCTCGACCCCAGAGGCTCAGATGAAAGACCGACCCGGGTGTGTACACCTCCGATTATCAGAACTGACCATCCCTCCAACCCACATGACCCCGCCCTATTAGTGTCAGACTCCCCTCAGCAGCCAGGGCCTTACCCACACACCCCCACCTGGCACCTCCCAAGGGTCTGGGTTGAAATAACTTGCTCAGCCAAGGCTCCTGAAGAGGGTGCAAGAACCAGGATTTTGGAGGGAATCTCTGCTGGAGTTTCTGCATATTCCATGGTCCAGGCAGTTCCTCTCATAACGAACTATCAGACAGAAATACTTGTAAAGATACTTCATTTATTTTGAAATATTTTTCCTCTTCTAATGTATTCATTTATTCATTCAACACTTATTTTTGAGCTCCTACTATGTTCCAGGCACTCCTCTAGCAAACAAAGCAAATTCTCTCCTCTTTTTCAATATTTGTGGAAAAAGCAAGGTCTCCCTCTTGTAGAGTTTATATTCTAGTATTTTCATAAGTTATACCTGCTCACTGGAGAATACTGAGCCATACAGAAAAACACAGAGGAAAATTTCACTTATATTTTTCCCCATGTAAAGATAACCACTCTTAACATCTAGTATATGTTCTTCCAGGATTTTTCTATGCACACACTGAATCTGTATTTTTATTTTTAAAATGTTATCATATTGTATGTACCTCTTTGCAGCCTGCTTTTTTCAGTTAGTTTTTTTTGTTTTTTTGTTTTTTTTTTTTTTTTTGGAAACCAAGTCTTGCTCTATTCCCTAGGCTGGAGCACAGTGGTGCCATCTCGGCTCACTGCAACCTCTGCCTCCAAAGTTAAACTAATTCTCCTGCCTCAGCCTCCCGACATAGCTGGGATTACAGGCACACACCACCACACATGGCTAATTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCATGTTGGCTGGAATGGTCTTGAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTAAGCCACCACA
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Task1_train_20557
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Located on Chromosome 15, this mutation impacts CAPN3 (calpain 3). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Autosomal recessive limb-girdle muscular dystrophy
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GGGTCTTGCACCTCAGCACGGAAGGCCTCAGAAAAGGTCTGTCTCCAGGCTCAGACTCCCCCTCCTGCCGCCTTGGGAACATGGCATATTTAAAGGGTCTCAGATCTAAAGGGCCTTACATACAAATATCAGATAGATTTCTGTTCTCATTTCAATGAGGGAGAAAGTGCCATTGAAAAGGAGACTAAACCACATTTGGCCCTTTTCAGTTCAAACTGATTCATTCAAAAAAGAGCGACATCCAAACTTGAAATGATTGAACAATGTTCCTGCTACAGCTAGAATAGATTCTGGGTCACTTTGTTCCTCCGTTTCAATCCTTGTTCTTCAGTTTGGCATCAAGAAATACCTAAATCAGCACAGTGCCTTCACTGCATAGTTCCCAATCCTGGCCACATTGAATCAGCTGGGGGCACCTGAGAGTGCTGACACCCAGGCCCTGCCCCAGACCTGCTGAGCAGGAGAATGAAAATCTTACATCCTAAGACACTCATGGAGCACCTACTCTACCCATTACTGGGCTGGACTCTGTGGAAGACATGAAGTATATGTAACTCACTTCCAGCTCTCAAAAAGCACCCAGTCCAGTTAGAGACAGATTTACACACCCCAAACACAAAATAGGATGAACAGGCACCCAGATGCAGAGTCCAGGAAATGATGCTGCTTTGGGATTCAAGAACCCCCTGAGGAATGTGGAGGAAGGACACATTTCCTAACAGTAATTTGAGTATGTGACTCTGTGCGTGACGCTTCTGTGCAGTTCTGGCGCTATGGAGAGTGGGTGGACGTGGTTATAGATGACTGCCTGCCAACGTACAACAATCAACTGGTTTTCACCAAGTCCAACCACCGCAATGAGTTCTGGAGTGCTCTGCTGGAGAAGGCTTATGCTAAGTAAGCAACACTTTAGAATGTGAGGTGGGGCTAGAGGTGAGAAAGTGGGTTGCAAAATCCAGCCGAGACCTCACTCACAGGAAGAGGCATGTGCCTCTATACGTGCATATGTGTGGGCATGCAAGTCCAACTGTGACCCAAAGTTAGAGATCAGTTCCAGGCAACAACAGCTCTAACTAAAAACATTAAATTTAAGAGTAGAAATGAAGATTTGCATAGAAGACCTTTAGCTTTAGCTTACCATAGCGAGTTCTTTCATTGCACCTCCATGGTGGCATTGCAAGTCTTGGATCAGAGCATTGTATCTCTGGAGCTCAGATCCCAGGGTCTCGCTTGGCTCAACCTCATGTGCTTATAGCAGATTTATAAAGCCATGTTGTCTCTCAACTTAAAAGCTCCACCCCAGATGCTAATAATGGATTTTTTAAATTTTTTTGAAACAAGGTCTCACTCTGTAATGCAGGCTGGAGTGCAGTGGTGCAGTCACGGCTCACTGCAGCATTGACCTCCTGGGTTCAAGGTGCTCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACATGCGGGCATCACCATGCCCAGTTAATTTTTGTATTTTTTTGTAGAGACGGGGTTTTGCCATGTTGCCCAGACTGGTCTCGAACTCTTGGGCTCATGCAATCCACCAGCCTTGGCCTCCCGAAGCGCTGGGATTGCCGGTGTGAGCCACCACACCGGCAGCTGCTAATGGCTTTAATGCAGCCCTTCCTCAACGTTCAGGATGTAGTGGAAAGAGCTCTCAGGAAGTGGGGATAGCTGGGTTTCAATCCCAGTGCTTCTGGCTCTCTGTGGTCTTGGGTGGGTCACTTAGCCTCTTGAGCTCAGTTTCTTCATTATGAAGAAAGGGAATCATTGTTTCCATCCCATGAGCTCATAGGGTTAATGTGGAATTGATGAAAGAACATCACAGCATCCAAGAGGTAAAGTTCTGGTGGCAGTGGTACCTGGGTTTTGTTCCCTGGAACTCTGTGACCCCAAATTGGTCTTCATCCTCTCTCTAAGGCTCCATGGTTCCTACGAAGCTCTGAAAGGTGGGAACACCACAGAGGCCATGGAGGACTTCACAGGAGGGGTGGCAGAGTTTTTTGAGATCAGGGATGCTCCTAGTGACATGTACAAGATCATGAAGAAAGCCATCGAGAGAGGCTCCCTCATGGGCTGCTCCATTGATGTAAGTCTGGGGTGTGGGGCACAGGGTGGGGAGCTCCAAGTGTCAGGAAGCCTTTTACCCAATGAAGGGCAGCATAGAGCTTTTGTGTGGGACAGAGCGAATGTTTTGTTTGAGGAAGCAGGAACTGGCTCTCAACTTTGAGGACTGGGAATTTCTCAAGGGAGAACAGTTCTTCCGGATTTTCAATAAAGACACTGGTCAAGGACATTTCAAGCCCTGGAATGTCAGTGGAAATCAGTCCAGAGGCCTGTGTCAGTGGAGGCCTCCCTTGCTGGTGCTCCTCAGTCTCAGCACGCTCCCATTAAGCTGGCCACGTACTTGGCTGTGGACCTGAGCCCACCATTTCCCTAAGAAAGCCTCCCAGTCACTGGGCTTTCACCACACCTCCCCGCTTGAGACGTGGGCTTTGTGTTGTTACCTGGGAGAAGCTAAGCCTGCAGCACCTTTCAGTGCAAAGAAATGCTGTGAACTGAGACAGGAGCCAAGGGTAGGGAGATGGCCGCCCATGGCCAGGCCTCCTTCAGGGGGCATGCCTTCCCTGAGGGCTGCTCAGTATATTGATATGATAATCTTAGTGGTTTCCATTGGGGAGGATGGGGCTGAAGCTGAATTCCTGCCCCTTCTTCTCCCAACACGCCCAATGGACAGCTTGGAAGGTCAGTTAGCACACAACACCATGGATGAACTTTTTTTCTGTATCACTTTTCTCCGTCTTTCCTCCATTCGTGCTCTGTTGATCTCTCCTCTCTCCCTTTGTCTGTCCCATCTCTTTCTCCTCTCTCCTTCCCTTTCCACCCTTCTGTGTTTGTTCTCTCCCTCCCCTGTGTTGTTCCCTACATTCTCCATCGGGCCTCAGGATGGCACGAACATGACCTATGGAACCTCTCCTTCTGGTCTGAACATGGGGGAGTTGATTGCACGGATGGTAAGGAATATGGATAACTCACTGCTCCAGGACTCAGACCTCGACCCCAGAGGCTCAGATGAAAGACCGACCCGGGTGTGTACACCTCCGATTATCAGAACTGACCATCCCTCCAACCCACATGACCCCGCCCTATTAGTGTCAGACTCCCCTCAGCAGCCAGGGCCTTACCCACACACCCCCACCTGGCACCTCCCAAGGGTCTGGGTTGAAATAACTTGCTCAGCCAAGGCTCCTGAAGAGGGTGCAAGAACCAGGATTTTGGAGGGAATCTCTGCTGGAGTTTCTGCATATTCCATGGTCCAGGCAGTTCCTCTCATAACGAACTATCAGACAGAAATACTTGTAAAGATACTTCATTTATTTTGAAATATTTTTCCTCTTCTAATGTATTCATTTATTCATTCAACACTTATTTTTGAGCTCCTACTATGTTCCAGGCACTCCTCTAGCAAACAAAGCAAATTCTCTCCTCTTTTTCAATATTTGTGGAAAAAGCAAGGTCTCCCTCTTGTAGAGTTTATATTCTAGTATTTTCATAAGTTATACCTGCTCACTGGAGAATACTGAGCCATACAGAAAAACACAGAGGAAAATTTCACTTATATTTTTCCCCATGTAAAGATAACCACTCTTAACATCTAGTATATGTTCTTCCAGGATTTTTCTATGCACACACTGAATCTGTATTTTTATTTTTAAAATGTTATCATATTGTATGTACCTCTTTGCAGCCTGCTTTTTTCAGTTAGTTTTTTTTGTTTTTTTGTTTTTTTTTTTTTTTTTGGAAACCAAGTCTTGCTCTATTCCCTAGGCTGGAGCACAGTGGTGCCATCTCGGCTCACTGCAACCTCTGCCTCCAAAGTTAAACTAATTCTCCTGCCTCAGCCTCCCGACATAGCTGGGATTACAGGCACACACCACCACACATGGCTAATTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCATGTTGGCTGGAATGGTCTTGAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTAAGCCACCACA
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GGGTCTTGCACCTCAGCACGGAAGGCCTCAGAAAAGGTCTGTCTCCAGGCTCAGACTCCCCCTCCTGCCGCCTTGGGAACATGGCATATTTAAAGGGTCTCAGATCTAAAGGGCCTTACATACAAATATCAGATAGATTTCTGTTCTCATTTCAATGAGGGAGAAAGTGCCATTGAAAAGGAGACTAAACCACATTTGGCCCTTTTCAGTTCAAACTGATTCATTCAAAAAAGAGCGACATCCAAACTTGAAATGATTGAACAATGTTCCTGCTACAGCTAGAATAGATTCTGGGTCACTTTGTTCCTCCGTTTCAATCCTTGTTCTTCAGTTTGGCATCAAGAAATACCTAAATCAGCACAGTGCCTTCACTGCATAGTTCCCAATCCTGGCCACATTGAATCAGCTGGGGGCACCTGAGAGTGCTGACACCCAGGCCCTGCCCCAGACCTGCTGAGCAGGAGAATGAAAATCTTACATCCTAAGACACTCATGGAGCACCTACTCTACCCATTACTGGGCTGGACTCTGTGGAAGACATGAAGTATATGTAACTCACTTCCAGCTCTCAAAAAGCACCCAGTCCAGTTAGAGACAGATTTACACACCCCAAACACAAAATAGGATGAACAGGCACCCAGATGCAGAGTCCAGGAAATGATGCTGCTTTGGGATTCAAGAACCCCCTGAGGAATGTGGAGGAAGGACACATTTCCTAACAGTAATTTGAGTATGTGACTCTGTGCGTGACGCTTCTGTGCAGTTCTGGCGCTATGGAGAGTGGGTGGACGTGGTTATAGATGACTGCCTGCCAACGTACAACAATCAACTGGTTTTCACCAAGTCCAACCACCGCAATGAGTTCTGGAGTGCTCTGCTGGAGAAGGCTTATGCTAAGTAAGCAACACTTTAGAATGTGAGGTGGGGCTAGAGGTGAGAAAGTGGGTTGCAAAATCCAGCCGAGACCTCACTCACAGGAAGAGGCATGTGCCTCTATACGTGCATATGTGTGGGCATGCAAGTCCAACTGTGACCCAAAGTTAGAGATCAGTTCCAGGCAACAACAGCTCTAACTAAAAACATTAAATTTAAGAGTAGAAATGAAGATTTGCATAGAAGACCTTTAGCTTTAGCTTACCATAGCGAGTTCTTTCATTGCACCTCCATGGTGGCATTGCAAGTCTTGGATCAGAGCATTGTATCTCTGGAGCTCAGATCCCAGGGTCTCGCTTGGCTCAACCTCATGTGCTTATAGCAGATTTATAAAGCCATGTTGTCTCTCAACTTAAAAGCTCCACCCCAGATGCTAATAATGGATTTTTTAAATTTTTTTGAAACAAGGTCTCACTCTGTAATGCAGGCTGGAGTGCAGTGGTGCAGTCACGGCTCACTGCAGCATTGACCTCCTGGGTTCAAGGTGCTCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACATGCGGGCATCACCATGCCCAGTTAATTTTTGTATTTTTTTGTAGAGACGGGGTTTTGCCATGTTGCCCAGACTGGTCTCGAACTCTTGGGCTCATGCAATCCACCAGCCTTGGCCTCCCGAAGCGCTGGGATTGCCGGTGTGAGCCACCACACCGGCAGCTGCTAATGGCTTTAATGCAGCCCTTCCTCAACGTTCAGGATGTAGTGGAAAGAGCTCTCAGGAAGTGGGGATAGCTGGGTTTCAATCCCAGTGCTTCTGGCTCTCTGTGGTCTTGGGTGGGTCACTTAGCCTCTTGAGCTCAGTTTCTTCATTATGAAGAAAGGGAATCATTGTTTCCATCCCATGAGCTCATAGGGTTAATGTGGAATTGATGAAAGAACATCACAGCATCCAAGAGGTAAAGTTCTGGTGGCAGTGGTACCTGGGTTTTGTTCCCTGGAACTCTGTGACCCCAAATTGGTCTTCATCCTCTCTCTAAGGCTCCATGGTTCCTACGAAGCTCTGAAAGGTGGGAACACCACAGAGGCCATGGAGGACTTCACAGGAGGGGTGGCAGAGTTTTTTGAGATCAGGGATGCTCCTAGTGACAGGTACAAGATCATGAAGAAAGCCATCGAGAGAGGCTCCCTCATGGGCTGCTCCATTGATGTAAGTCTGGGGTGTGGGGCACAGGGTGGGGAGCTCCAAGTGTCAGGAAGCCTTTTACCCAATGAAGGGCAGCATAGAGCTTTTGTGTGGGACAGAGCGAATGTTTTGTTTGAGGAAGCAGGAACTGGCTCTCAACTTTGAGGACTGGGAATTTCTCAAGGGAGAACAGTTCTTCCGGATTTTCAATAAAGACACTGGTCAAGGACATTTCAAGCCCTGGAATGTCAGTGGAAATCAGTCCAGAGGCCTGTGTCAGTGGAGGCCTCCCTTGCTGGTGCTCCTCAGTCTCAGCACGCTCCCATTAAGCTGGCCACGTACTTGGCTGTGGACCTGAGCCCACCATTTCCCTAAGAAAGCCTCCCAGTCACTGGGCTTTCACCACACCTCCCCGCTTGAGACGTGGGCTTTGTGTTGTTACCTGGGAGAAGCTAAGCCTGCAGCACCTTTCAGTGCAAAGAAATGCTGTGAACTGAGACAGGAGCCAAGGGTAGGGAGATGGCCGCCCATGGCCAGGCCTCCTTCAGGGGGCATGCCTTCCCTGAGGGCTGCTCAGTATATTGATATGATAATCTTAGTGGTTTCCATTGGGGAGGATGGGGCTGAAGCTGAATTCCTGCCCCTTCTTCTCCCAACACGCCCAATGGACAGCTTGGAAGGTCAGTTAGCACACAACACCATGGATGAACTTTTTTTCTGTATCACTTTTCTCCGTCTTTCCTCCATTCGTGCTCTGTTGATCTCTCCTCTCTCCCTTTGTCTGTCCCATCTCTTTCTCCTCTCTCCTTCCCTTTCCACCCTTCTGTGTTTGTTCTCTCCCTCCCCTGTGTTGTTCCCTACATTCTCCATCGGGCCTCAGGATGGCACGAACATGACCTATGGAACCTCTCCTTCTGGTCTGAACATGGGGGAGTTGATTGCACGGATGGTAAGGAATATGGATAACTCACTGCTCCAGGACTCAGACCTCGACCCCAGAGGCTCAGATGAAAGACCGACCCGGGTGTGTACACCTCCGATTATCAGAACTGACCATCCCTCCAACCCACATGACCCCGCCCTATTAGTGTCAGACTCCCCTCAGCAGCCAGGGCCTTACCCACACACCCCCACCTGGCACCTCCCAAGGGTCTGGGTTGAAATAACTTGCTCAGCCAAGGCTCCTGAAGAGGGTGCAAGAACCAGGATTTTGGAGGGAATCTCTGCTGGAGTTTCTGCATATTCCATGGTCCAGGCAGTTCCTCTCATAACGAACTATCAGACAGAAATACTTGTAAAGATACTTCATTTATTTTGAAATATTTTTCCTCTTCTAATGTATTCATTTATTCATTCAACACTTATTTTTGAGCTCCTACTATGTTCCAGGCACTCCTCTAGCAAACAAAGCAAATTCTCTCCTCTTTTTCAATATTTGTGGAAAAAGCAAGGTCTCCCTCTTGTAGAGTTTATATTCTAGTATTTTCATAAGTTATACCTGCTCACTGGAGAATACTGAGCCATACAGAAAAACACAGAGGAAAATTTCACTTATATTTTTCCCCATGTAAAGATAACCACTCTTAACATCTAGTATATGTTCTTCCAGGATTTTTCTATGCACACACTGAATCTGTATTTTTATTTTTAAAATGTTATCATATTGTATGTACCTCTTTGCAGCCTGCTTTTTTCAGTTAGTTTTTTTTGTTTTTTTGTTTTTTTTTTTTTTTTTGGAAACCAAGTCTTGCTCTATTCCCTAGGCTGGAGCACAGTGGTGCCATCTCGGCTCACTGCAACCTCTGCCTCCAAAGTTAAACTAATTCTCCTGCCTCAGCCTCCCGACATAGCTGGGATTACAGGCACACACCACCACACATGGCTAATTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCATGTTGGCTGGAATGGTCTTGAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTAAGCCACCACA
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Task1_train_20558
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A mutation in CAPN3 (calpain 3), located on Chromosome 15, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2A
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GGGTCTTGCACCTCAGCACGGAAGGCCTCAGAAAAGGTCTGTCTCCAGGCTCAGACTCCCCCTCCTGCCGCCTTGGGAACATGGCATATTTAAAGGGTCTCAGATCTAAAGGGCCTTACATACAAATATCAGATAGATTTCTGTTCTCATTTCAATGAGGGAGAAAGTGCCATTGAAAAGGAGACTAAACCACATTTGGCCCTTTTCAGTTCAAACTGATTCATTCAAAAAAGAGCGACATCCAAACTTGAAATGATTGAACAATGTTCCTGCTACAGCTAGAATAGATTCTGGGTCACTTTGTTCCTCCGTTTCAATCCTTGTTCTTCAGTTTGGCATCAAGAAATACCTAAATCAGCACAGTGCCTTCACTGCATAGTTCCCAATCCTGGCCACATTGAATCAGCTGGGGGCACCTGAGAGTGCTGACACCCAGGCCCTGCCCCAGACCTGCTGAGCAGGAGAATGAAAATCTTACATCCTAAGACACTCATGGAGCACCTACTCTACCCATTACTGGGCTGGACTCTGTGGAAGACATGAAGTATATGTAACTCACTTCCAGCTCTCAAAAAGCACCCAGTCCAGTTAGAGACAGATTTACACACCCCAAACACAAAATAGGATGAACAGGCACCCAGATGCAGAGTCCAGGAAATGATGCTGCTTTGGGATTCAAGAACCCCCTGAGGAATGTGGAGGAAGGACACATTTCCTAACAGTAATTTGAGTATGTGACTCTGTGCGTGACGCTTCTGTGCAGTTCTGGCGCTATGGAGAGTGGGTGGACGTGGTTATAGATGACTGCCTGCCAACGTACAACAATCAACTGGTTTTCACCAAGTCCAACCACCGCAATGAGTTCTGGAGTGCTCTGCTGGAGAAGGCTTATGCTAAGTAAGCAACACTTTAGAATGTGAGGTGGGGCTAGAGGTGAGAAAGTGGGTTGCAAAATCCAGCCGAGACCTCACTCACAGGAAGAGGCATGTGCCTCTATACGTGCATATGTGTGGGCATGCAAGTCCAACTGTGACCCAAAGTTAGAGATCAGTTCCAGGCAACAACAGCTCTAACTAAAAACATTAAATTTAAGAGTAGAAATGAAGATTTGCATAGAAGACCTTTAGCTTTAGCTTACCATAGCGAGTTCTTTCATTGCACCTCCATGGTGGCATTGCAAGTCTTGGATCAGAGCATTGTATCTCTGGAGCTCAGATCCCAGGGTCTCGCTTGGCTCAACCTCATGTGCTTATAGCAGATTTATAAAGCCATGTTGTCTCTCAACTTAAAAGCTCCACCCCAGATGCTAATAATGGATTTTTTAAATTTTTTTGAAACAAGGTCTCACTCTGTAATGCAGGCTGGAGTGCAGTGGTGCAGTCACGGCTCACTGCAGCATTGACCTCCTGGGTTCAAGGTGCTCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACATGCGGGCATCACCATGCCCAGTTAATTTTTGTATTTTTTTGTAGAGACGGGGTTTTGCCATGTTGCCCAGACTGGTCTCGAACTCTTGGGCTCATGCAATCCACCAGCCTTGGCCTCCCGAAGCGCTGGGATTGCCGGTGTGAGCCACCACACCGGCAGCTGCTAATGGCTTTAATGCAGCCCTTCCTCAACGTTCAGGATGTAGTGGAAAGAGCTCTCAGGAAGTGGGGATAGCTGGGTTTCAATCCCAGTGCTTCTGGCTCTCTGTGGTCTTGGGTGGGTCACTTAGCCTCTTGAGCTCAGTTTCTTCATTATGAAGAAAGGGAATCATTGTTTCCATCCCATGAGCTCATAGGGTTAATGTGGAATTGATGAAAGAACATCACAGCATCCAAGAGGTAAAGTTCTGGTGGCAGTGGTACCTGGGTTTTGTTCCCTGGAACTCTGTGACCCCAAATTGGTCTTCATCCTCTCTCTAAGGCTCCATGGTTCCTACGAAGCTCTGAAAGGTGGGAACACCACAGAGGCCATGGAGGACTTCACAGGAGGGGTGGCAGAGTTTTTTGAGATCAGGGATGCTCCTAGTGACATGTACAAGATCATGAAGAAAGCCATCGAGAGAGGCTCCCTCATGGGCTGCTCCATTGATGTAAGTCTGGGGTGTGGGGCACAGGGTGGGGAGCTCCAAGTGTCAGGAAGCCTTTTACCCAATGAAGGGCAGCATAGAGCTTTTGTGTGGGACAGAGCGAATGTTTTGTTTGAGGAAGCAGGAACTGGCTCTCAACTTTGAGGACTGGGAATTTCTCAAGGGAGAACAGTTCTTCCGGATTTTCAATAAAGACACTGGTCAAGGACATTTCAAGCCCTGGAATGTCAGTGGAAATCAGTCCAGAGGCCTGTGTCAGTGGAGGCCTCCCTTGCTGGTGCTCCTCAGTCTCAGCACGCTCCCATTAAGCTGGCCACGTACTTGGCTGTGGACCTGAGCCCACCATTTCCCTAAGAAAGCCTCCCAGTCACTGGGCTTTCACCACACCTCCCCGCTTGAGACGTGGGCTTTGTGTTGTTACCTGGGAGAAGCTAAGCCTGCAGCACCTTTCAGTGCAAAGAAATGCTGTGAACTGAGACAGGAGCCAAGGGTAGGGAGATGGCCGCCCATGGCCAGGCCTCCTTCAGGGGGCATGCCTTCCCTGAGGGCTGCTCAGTATATTGATATGATAATCTTAGTGGTTTCCATTGGGGAGGATGGGGCTGAAGCTGAATTCCTGCCCCTTCTTCTCCCAACACGCCCAATGGACAGCTTGGAAGGTCAGTTAGCACACAACACCATGGATGAACTTTTTTTCTGTATCACTTTTCTCCGTCTTTCCTCCATTCGTGCTCTGTTGATCTCTCCTCTCTCCCTTTGTCTGTCCCATCTCTTTCTCCTCTCTCCTTCCCTTTCCACCCTTCTGTGTTTGTTCTCTCCCTCCCCTGTGTTGTTCCCTACATTCTCCATCGGGCCTCAGGATGGCACGAACATGACCTATGGAACCTCTCCTTCTGGTCTGAACATGGGGGAGTTGATTGCACGGATGGTAAGGAATATGGATAACTCACTGCTCCAGGACTCAGACCTCGACCCCAGAGGCTCAGATGAAAGACCGACCCGGGTGTGTACACCTCCGATTATCAGAACTGACCATCCCTCCAACCCACATGACCCCGCCCTATTAGTGTCAGACTCCCCTCAGCAGCCAGGGCCTTACCCACACACCCCCACCTGGCACCTCCCAAGGGTCTGGGTTGAAATAACTTGCTCAGCCAAGGCTCCTGAAGAGGGTGCAAGAACCAGGATTTTGGAGGGAATCTCTGCTGGAGTTTCTGCATATTCCATGGTCCAGGCAGTTCCTCTCATAACGAACTATCAGACAGAAATACTTGTAAAGATACTTCATTTATTTTGAAATATTTTTCCTCTTCTAATGTATTCATTTATTCATTCAACACTTATTTTTGAGCTCCTACTATGTTCCAGGCACTCCTCTAGCAAACAAAGCAAATTCTCTCCTCTTTTTCAATATTTGTGGAAAAAGCAAGGTCTCCCTCTTGTAGAGTTTATATTCTAGTATTTTCATAAGTTATACCTGCTCACTGGAGAATACTGAGCCATACAGAAAAACACAGAGGAAAATTTCACTTATATTTTTCCCCATGTAAAGATAACCACTCTTAACATCTAGTATATGTTCTTCCAGGATTTTTCTATGCACACACTGAATCTGTATTTTTATTTTTAAAATGTTATCATATTGTATGTACCTCTTTGCAGCCTGCTTTTTTCAGTTAGTTTTTTTTGTTTTTTTGTTTTTTTTTTTTTTTTTGGAAACCAAGTCTTGCTCTATTCCCTAGGCTGGAGCACAGTGGTGCCATCTCGGCTCACTGCAACCTCTGCCTCCAAAGTTAAACTAATTCTCCTGCCTCAGCCTCCCGACATAGCTGGGATTACAGGCACACACCACCACACATGGCTAATTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCATGTTGGCTGGAATGGTCTTGAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTAAGCCACCACA
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GGGTCTTGCACCTCAGCACGGAAGGCCTCAGAAAAGGTCTGTCTCCAGGCTCAGACTCCCCCTCCTGCCGCCTTGGGAACATGGCATATTTAAAGGGTCTCAGATCTAAAGGGCCTTACATACAAATATCAGATAGATTTCTGTTCTCATTTCAATGAGGGAGAAAGTGCCATTGAAAAGGAGACTAAACCACATTTGGCCCTTTTCAGTTCAAACTGATTCATTCAAAAAAGAGCGACATCCAAACTTGAAATGATTGAACAATGTTCCTGCTACAGCTAGAATAGATTCTGGGTCACTTTGTTCCTCCGTTTCAATCCTTGTTCTTCAGTTTGGCATCAAGAAATACCTAAATCAGCACAGTGCCTTCACTGCATAGTTCCCAATCCTGGCCACATTGAATCAGCTGGGGGCACCTGAGAGTGCTGACACCCAGGCCCTGCCCCAGACCTGCTGAGCAGGAGAATGAAAATCTTACATCCTAAGACACTCATGGAGCACCTACTCTACCCATTACTGGGCTGGACTCTGTGGAAGACATGAAGTATATGTAACTCACTTCCAGCTCTCAAAAAGCACCCAGTCCAGTTAGAGACAGATTTACACACCCCAAACACAAAATAGGATGAACAGGCACCCAGATGCAGAGTCCAGGAAATGATGCTGCTTTGGGATTCAAGAACCCCCTGAGGAATGTGGAGGAAGGACACATTTCCTAACAGTAATTTGAGTATGTGACTCTGTGCGTGACGCTTCTGTGCAGTTCTGGCGCTATGGAGAGTGGGTGGACGTGGTTATAGATGACTGCCTGCCAACGTACAACAATCAACTGGTTTTCACCAAGTCCAACCACCGCAATGAGTTCTGGAGTGCTCTGCTGGAGAAGGCTTATGCTAAGTAAGCAACACTTTAGAATGTGAGGTGGGGCTAGAGGTGAGAAAGTGGGTTGCAAAATCCAGCCGAGACCTCACTCACAGGAAGAGGCATGTGCCTCTATACGTGCATATGTGTGGGCATGCAAGTCCAACTGTGACCCAAAGTTAGAGATCAGTTCCAGGCAACAACAGCTCTAACTAAAAACATTAAATTTAAGAGTAGAAATGAAGATTTGCATAGAAGACCTTTAGCTTTAGCTTACCATAGCGAGTTCTTTCATTGCACCTCCATGGTGGCATTGCAAGTCTTGGATCAGAGCATTGTATCTCTGGAGCTCAGATCCCAGGGTCTCGCTTGGCTCAACCTCATGTGCTTATAGCAGATTTATAAAGCCATGTTGTCTCTCAACTTAAAAGCTCCACCCCAGATGCTAATAATGGATTTTTTAAATTTTTTTGAAACAAGGTCTCACTCTGTAATGCAGGCTGGAGTGCAGTGGTGCAGTCACGGCTCACTGCAGCATTGACCTCCTGGGTTCAAGGTGCTCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACATGCGGGCATCACCATGCCCAGTTAATTTTTGTATTTTTTTGTAGAGACGGGGTTTTGCCATGTTGCCCAGACTGGTCTCGAACTCTTGGGCTCATGCAATCCACCAGCCTTGGCCTCCCGAAGCGCTGGGATTGCCGGTGTGAGCCACCACACCGGCAGCTGCTAATGGCTTTAATGCAGCCCTTCCTCAACGTTCAGGATGTAGTGGAAAGAGCTCTCAGGAAGTGGGGATAGCTGGGTTTCAATCCCAGTGCTTCTGGCTCTCTGTGGTCTTGGGTGGGTCACTTAGCCTCTTGAGCTCAGTTTCTTCATTATGAAGAAAGGGAATCATTGTTTCCATCCCATGAGCTCATAGGGTTAATGTGGAATTGATGAAAGAACATCACAGCATCCAAGAGGTAAAGTTCTGGTGGCAGTGGTACCTGGGTTTTGTTCCCTGGAACTCTGTGACCCCAAATTGGTCTTCATCCTCTCTCTAAGGCTCCATGGTTCCTACGAAGCTCTGAAAGGTGGGAACACCACAGAGGCCATGGAGGACTTCACAGGAGGGGTGGCAGAGTTTTTTGAGATCAGGGATGCTCCTAGTGACAGGTACAAGATCATGAAGAAAGCCATCGAGAGAGGCTCCCTCATGGGCTGCTCCATTGATGTAAGTCTGGGGTGTGGGGCACAGGGTGGGGAGCTCCAAGTGTCAGGAAGCCTTTTACCCAATGAAGGGCAGCATAGAGCTTTTGTGTGGGACAGAGCGAATGTTTTGTTTGAGGAAGCAGGAACTGGCTCTCAACTTTGAGGACTGGGAATTTCTCAAGGGAGAACAGTTCTTCCGGATTTTCAATAAAGACACTGGTCAAGGACATTTCAAGCCCTGGAATGTCAGTGGAAATCAGTCCAGAGGCCTGTGTCAGTGGAGGCCTCCCTTGCTGGTGCTCCTCAGTCTCAGCACGCTCCCATTAAGCTGGCCACGTACTTGGCTGTGGACCTGAGCCCACCATTTCCCTAAGAAAGCCTCCCAGTCACTGGGCTTTCACCACACCTCCCCGCTTGAGACGTGGGCTTTGTGTTGTTACCTGGGAGAAGCTAAGCCTGCAGCACCTTTCAGTGCAAAGAAATGCTGTGAACTGAGACAGGAGCCAAGGGTAGGGAGATGGCCGCCCATGGCCAGGCCTCCTTCAGGGGGCATGCCTTCCCTGAGGGCTGCTCAGTATATTGATATGATAATCTTAGTGGTTTCCATTGGGGAGGATGGGGCTGAAGCTGAATTCCTGCCCCTTCTTCTCCCAACACGCCCAATGGACAGCTTGGAAGGTCAGTTAGCACACAACACCATGGATGAACTTTTTTTCTGTATCACTTTTCTCCGTCTTTCCTCCATTCGTGCTCTGTTGATCTCTCCTCTCTCCCTTTGTCTGTCCCATCTCTTTCTCCTCTCTCCTTCCCTTTCCACCCTTCTGTGTTTGTTCTCTCCCTCCCCTGTGTTGTTCCCTACATTCTCCATCGGGCCTCAGGATGGCACGAACATGACCTATGGAACCTCTCCTTCTGGTCTGAACATGGGGGAGTTGATTGCACGGATGGTAAGGAATATGGATAACTCACTGCTCCAGGACTCAGACCTCGACCCCAGAGGCTCAGATGAAAGACCGACCCGGGTGTGTACACCTCCGATTATCAGAACTGACCATCCCTCCAACCCACATGACCCCGCCCTATTAGTGTCAGACTCCCCTCAGCAGCCAGGGCCTTACCCACACACCCCCACCTGGCACCTCCCAAGGGTCTGGGTTGAAATAACTTGCTCAGCCAAGGCTCCTGAAGAGGGTGCAAGAACCAGGATTTTGGAGGGAATCTCTGCTGGAGTTTCTGCATATTCCATGGTCCAGGCAGTTCCTCTCATAACGAACTATCAGACAGAAATACTTGTAAAGATACTTCATTTATTTTGAAATATTTTTCCTCTTCTAATGTATTCATTTATTCATTCAACACTTATTTTTGAGCTCCTACTATGTTCCAGGCACTCCTCTAGCAAACAAAGCAAATTCTCTCCTCTTTTTCAATATTTGTGGAAAAAGCAAGGTCTCCCTCTTGTAGAGTTTATATTCTAGTATTTTCATAAGTTATACCTGCTCACTGGAGAATACTGAGCCATACAGAAAAACACAGAGGAAAATTTCACTTATATTTTTCCCCATGTAAAGATAACCACTCTTAACATCTAGTATATGTTCTTCCAGGATTTTTCTATGCACACACTGAATCTGTATTTTTATTTTTAAAATGTTATCATATTGTATGTACCTCTTTGCAGCCTGCTTTTTTCAGTTAGTTTTTTTTGTTTTTTTGTTTTTTTTTTTTTTTTTGGAAACCAAGTCTTGCTCTATTCCCTAGGCTGGAGCACAGTGGTGCCATCTCGGCTCACTGCAACCTCTGCCTCCAAAGTTAAACTAATTCTCCTGCCTCAGCCTCCCGACATAGCTGGGATTACAGGCACACACCACCACACATGGCTAATTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCATGTTGGCTGGAATGGTCTTGAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTAAGCCACCACA
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Task1_train_20559
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This variant lies on Chromosome 15 and affects the gene CAPN3 (calpain 3). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2A
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ACCCTGGATGGCTTCAGGGGAAGGGGGATCCTGAAGCCCAGGGCAGCCTCCAACTCTACCCCTTCCTCCTTTGAAGGATACTAAGGGGTCCAGAAAGGAGGGGCAGGACACTGTTACCCACCCCACATCCCAGCATCCACATTGCTCTCTGATGGTCAGGACAGAGCCTTCTCAGGGAGACCAGCCTGTCTGGAGCTGTGTCTCTTGGCACTCTTAAAGGGCCACTGAAGGTCCGTTCGTGGTCGTGAGGCACACTTTCAGGGAGCAGAGTGGTCTGTGTCTTCACAGAGCCCGGAAAATGAACTAGTATGAACTTTGCCTCCAAGCAGCAGAACTTCTGTTCCCCCGCCCCTAATGGGTTCTCTGGTTACTGCTCTACAGACAATCATTCCGGTTCAGTATGAGACAAGAATGGCCTGCGGGCTGGTCAGAGGTCACGCCTACTCTGTCACGGGGCTGGATGAGGTAAGCCTGGTGGGGCTTGGTGGGGCAAGGGCACCCTCCTGGGTTAACCTCATGAAGTCAGGACTTAGCTGTTGGGGCCCCTTCCCTGTCTGCAGAGCTTGCCTCCAATCAGGACATTCAGTTCAAGGTCCAAGCCACGCCTGGGAGCAGAGGGGCCTGTGAAACTGGTAGAGGTGGATCCTGCCACAGTTGGTGCACAGTTTATCTTTGCTTTTCGTGCTAAAGATGGCAATTTTTCCAACATTTCCAATGAACAAATTGAAATATCACTTAACTTTGCTTTTACAAAGTTGGTTTCATGTGTTCTTGAGCTTCCTGTTCTCTCGTGTTCAGATAGCTACAGTTGTCTCTGGGTAGCCACGGGGACTGGTTCCAGAAGCCCCAACAGTAACAAAATCTGCAGATGCTCAAGTCCCTTCTGTAAAATGGAGTAGTATTTGCATATAACCTATGCACATCCTCCCATATACTTTAAGTCATCTCTGGATTACTTACGATACCTAACACAATGGAAATGCTATGTAAATAGTTATTGCACTGCATTGGGTTTTTTTGGTATTATTTTCTGTTGTTGTATTATTATTTTTTCTTTTTTTGAATATTTTTGATCCACAATTGGTTATATGCCAAAGCCATGGATACGAGAGGCTGACTGTTCTGTTTTGCTCCTTCTGGGACTTCTGGGTTTTCCTGGACCATGTCTGAGACAGGAACGTTGTAAGACCTGTTGCACACAGTTGGGCAGGTTGTGCCCTGTACAGAGGGATGGGCTGAGAGGGGCAGTTGCCTGCATCACCCATTGCAGCAGACTGGAGGGAGTCTGCTTGTTTGTAGTTCCTCAGTCAGCAGGGGCCTTTTGTCTTTCTTTCTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAGTCTCGGCTCACTGCAATGTCCGCCTCCTGGATTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCGTGTCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGGTTTCTCCATGTTGATCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCGCCCACCTCGGCCTCTCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCCAGCAGGGGCCTTTTTTCTAATTTATATGAAGACACCTAATTTATATGTGTTAGCAGGGCCCTACTGTTTATGCCTCACCTCCTCCCCCGAAGCTCATAACGGCAGGATGTTCCTGAGAAAATTGCCTCTTAGAAGATAGAGAGGAGATGGCCAAGCCCTAAGTTAGGCAGACTCAGGAGGAAAGGTCTGACCCACCCCCTGCCATTCCCCAGCACACTTGTGATTAATCTCCTTGGCCAGAGCCAGGCAGAACACCCTCGCGTAAGAGATTTGCCCCCCAGCCCCGTCCCAGCCCTCAGCAAGACAGAAGATTCCCTTTCCAGAGAGGCTGCAGAGCATGAGAGCTCTTTCTGTGTGCTTAAGGTCCCGTTCAAAGGTGAGAAAGTGAAGCTGGTGCGGCTGCGGAATCCGTGGGGCCAGGTGGAGTGGAACGGTTCTTGGAGTGATAGGTAGGTGAGGGGACCCCACGGGATTGGCGGTGGCGGGGAACAGGGTCCGGGACAAGGCTGTGTTGGGAACTGAGCCATGAGAGTATTGAAGATGCTTGGTATAAAATCACCCTCAAAACCAATGATCCGCAGAGAAGAGGGGCACAGGTGTTGGCTCCAGGGAAGGGCCAGGAGTGGAAGCGGGGTGCTGGGGACCCAGAGAGGTTGCTGACAACCATTGGCTGGAAAGGAAGGATTCCAGAAAGCGTGGGGAAGGTCCAGGCAGGAAAAGCGTATGAATGCAGGGTTCTGGGCTAGAGAAGTGACTTCCCTTCTTGGGGTCTTGTGTTGCCTTTCCTGTGAAATGGGAACAGTATTATTAGCACTTACCTTGTGGGCTGATATGAGGAGTAAATGGGACTGTTTTTGGCAAGTGCTGAGCCATTGCTAAGATTCCCTTACCCGTGCTGTCCCTGTATAAAGGCACAAGGGCCCTTTGAAAGAATTTTACTGCTTATCATTGAAAGGAATAGACTGGGGGCAACAAAAATAACAAACATGCGAAGTTATTATGAAGGCTCCAGCACATTTGCAAAACCTCCATGGTCCTACTGGTTCCTGATTACCTCCACTGAATGAGAGGCAATTCATTACTGAATGAGCCATAAGCGCCTCTTATTTCGAGAGGGGGATGGCAGGACTCAGTAGAGGAGAAGGACCGCACCCAGGCAGCCTGGGCCCCTCGGCTCCTGTACTTATATACTGCTGGGTACTTCTTAGCCCAGCATGTAATTACTGGTTCGTTCAGTCATTCGTTTAGCAAATGTTTCTTGGGCACCTACTACATAGGAGGCACAGGTCAAGGCACTGGGGATATTCTGTGAACCCATAGCCTCCCTTGATACACTGTGATTAGGGGCTGATCCTCATGTCCTGACTGCCTCCTGCAGACATTCTCATGCCTTCCTTCACCTATGCACGCTACACCTATCCTTACTTCCTCAGTGCTGACTTCTGCCAGGCCCTAGGCTACCCACCTGGGGATGTAGAAATGTAGAAATGAACACAGACACGTGGGCCCTGTGCCTGTGGGTTTAAGGTCCGGGGAAGGACAGGCAAGCACACACTAATAATTGAGATGAGTGCCACAGTAAGGATCACAAAGAGGGGGCCTCTGCACCTAGTTTGGGTGGGAGGGGAGGCGTAGAGAAAGGTTACCTGGAGGGAGTGACATTGGAACTGTGCTCTGTGCTCTGGGAAGGCCCTCAGTGACTCCTCAGTTGTCTACTTCACTGGCCCAAGTCACCTGCAGGGACGCTTGCTGTGTTCTCCAGCCTCAGAGCTTGGTGTGCAGCCCTGCCCTGCTTACCATGATGCTGCCATCACAGGGGCTGGAGACAAGTGGACCCAACGCTGTTCACTCAAGGAGATTCCCTTTGCTGCATCCCTCCTCCTGGTCTCAGGAATCTCCATGTCCCCTGCAGTGTTCTCTGACTGACTCCAAGCGCTTCCTCCACCCCTTACCTTTCCAGGGAGCACCCAGTTTAGTTGAATTCTCCTCTGTGAGCCTGAAACACACATGCACTTTATTGCCACCATAGTGAGGAGAGAGAGTGTGAAAACTGCCCAGCCTTTAGAAGCACAATGCTTGATTATTTCCCAGCACAGGAAAGGAGATGTTTACAGACTTGGCCTTTTTCCTTAGTAAATCAGAGTTTCTTATTATATGACAGACACTATGCTAACAGCTTTGCATGCATTATTGCATCTGCCCATCCCAGCCCTGTGAACAGGTGACATAATCATTTTCCTTTTGCAATTGAGGAAGCAGAGTCTGACAGAGGTTAAGTGACCTGCCCAAGGTTGCATAGCTAGCCCTATTATTAAACGGAACTCCCAGTTTGTCTATGTCCAGAACCCATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGCCACCCAGGCTGGAGTGCAATGGCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTTC
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ACCCTGGATGGCTTCAGGGGAAGGGGGATCCTGAAGCCCAGGGCAGCCTCCAACTCTACCCCTTCCTCCTTTGAAGGATACTAAGGGGTCCAGAAAGGAGGGGCAGGACACTGTTACCCACCCCACATCCCAGCATCCACATTGCTCTCTGATGGTCAGGACAGAGCCTTCTCAGGGAGACCAGCCTGTCTGGAGCTGTGTCTCTTGGCACTCTTAAAGGGCCACTGAAGGTCCGTTCGTGGTCGTGAGGCACACTTTCAGGGAGCAGAGTGGTCTGTGTCTTCACAGAGCCCGGAAAATGAACTAGTATGAACTTTGCCTCCAAGCAGCAGAACTTCTGTTCCCCCGCCCCTAATGGGTTCTCTGGTTACTGCTCTACAGACAATCATTCCGGTTCAGTATGAGACAAGAATGGCCTGCGGGCTGGTCAGAGGTCACGCCTACTCTGTCACGGGGCTGGATGAGGTAAGCCTGGTGGGGCTTGGTGGGGCAAGGGCACCCTCCTGGGTTAACCTCATGAAGTCAGGACTTAGCTGTTGGGGCCCCTTCCCTGTCTGCAGAGCTTGCCTCCAATCAGGACATTCAGTTCAAGGTCCAAGCCACGCCTGGGAGCAGAGGGGCCTGTGAAACTGGTAGAGGTGGATCCTGCCACAGTTGGTGCACAGTTTATCTTTGCTTTTCGTGCTAAAGATGGCAATTTTTCCAACATTTCCAATGAACAAATTGAAATATCACTTAACTTTGCTTTTACAAAGTTGGTTTCATGTGTTCTTGAGCTTCCTGTTCTCTCGTGTTCAGATAGCTACAGTTGTCTCTGGGTAGCCACGGGGACTGGTTCCAGAAGCCCCAACAGTAACAAAATCTGCAGATGCTCAAGTCCCTTCTGTAAAATGGAGTAGTATTTGCATATAACCTATGCACATCCTCCCATATACTTTAAGTCATCTCTGGATTACTTACGATACCTAACACAATGGAAATGCTATGTAAATAGTTATTGCACTGCATTGGGTTTTTTTGGTATTATTTTCTGTTGTTGTATTATTATTTTTTCTTTTTTTGAATATTTTTGATCCACAATTGGTTATATGCCAAAGCCATGGATACGAGAGGCTGACTGTTCTGTTTTGCTCCTTCTGGGACTTCTGGGTTTTCCTGGACCATGTCTGAGACAGGAACGTTGTAAGACCTGTTGCACACAGTTGGGCAGGTTGTGCCCTGTACAGAGGGATGGGCTGAGAGGGGCAGTTGCCTGCATCACCCATTGCAGCAGACTGGAGGGAGTCTGCTTGTTTGTAGTTCCTCAGTCAGCAGGGGCCTTTTGTCTTTCTTTCTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAGTCTCGGCTCACTGCAATGTCCGCCTCCTGGATTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCGTGTCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGGTTTCTCCATGTTGATCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCGCCCACCTCGGCCTCTCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCCAGCAGGGGCCTTTTTTCTAATTTATATGAAGACACCTAATTTATATGTGTTAGCAGGGCCCTACTGTTTATGCCTCACCTCCTCCCCCGAAGCTCATAACGGCAGGATGTTCCTGAGAAAATTGCCTCTTAGAAGATAGAGAGGAGATGGCCAAGCCCTAAGTTAGGCAGACTCAGGAGGAAAGGTCTGACCCACCCCCTGCCATTCCCCAGCACACTTGTGATTAATCTCCTTGGCCAGAGCCAGGCAGAACACCCTCGCGTAAGAGATTTGCCCCCCAGCCCCGTCCCAGCCCTCAGCAAGACAGAAGATTCCCTTTCCAGAGAGGCTGCAGAGCATGAGAGCTCTTTCTGTGTGCTTAAGGTCCCGTTCAAAGGTGAGAAAGTGAAGCTGGTGCGGCTGCGGAATCCGTGCGGCCAGGTGGAGTGGAACGGTTCTTGGAGTGATAGGTAGGTGAGGGGACCCCACGGGATTGGCGGTGGCGGGGAACAGGGTCCGGGACAAGGCTGTGTTGGGAACTGAGCCATGAGAGTATTGAAGATGCTTGGTATAAAATCACCCTCAAAACCAATGATCCGCAGAGAAGAGGGGCACAGGTGTTGGCTCCAGGGAAGGGCCAGGAGTGGAAGCGGGGTGCTGGGGACCCAGAGAGGTTGCTGACAACCATTGGCTGGAAAGGAAGGATTCCAGAAAGCGTGGGGAAGGTCCAGGCAGGAAAAGCGTATGAATGCAGGGTTCTGGGCTAGAGAAGTGACTTCCCTTCTTGGGGTCTTGTGTTGCCTTTCCTGTGAAATGGGAACAGTATTATTAGCACTTACCTTGTGGGCTGATATGAGGAGTAAATGGGACTGTTTTTGGCAAGTGCTGAGCCATTGCTAAGATTCCCTTACCCGTGCTGTCCCTGTATAAAGGCACAAGGGCCCTTTGAAAGAATTTTACTGCTTATCATTGAAAGGAATAGACTGGGGGCAACAAAAATAACAAACATGCGAAGTTATTATGAAGGCTCCAGCACATTTGCAAAACCTCCATGGTCCTACTGGTTCCTGATTACCTCCACTGAATGAGAGGCAATTCATTACTGAATGAGCCATAAGCGCCTCTTATTTCGAGAGGGGGATGGCAGGACTCAGTAGAGGAGAAGGACCGCACCCAGGCAGCCTGGGCCCCTCGGCTCCTGTACTTATATACTGCTGGGTACTTCTTAGCCCAGCATGTAATTACTGGTTCGTTCAGTCATTCGTTTAGCAAATGTTTCTTGGGCACCTACTACATAGGAGGCACAGGTCAAGGCACTGGGGATATTCTGTGAACCCATAGCCTCCCTTGATACACTGTGATTAGGGGCTGATCCTCATGTCCTGACTGCCTCCTGCAGACATTCTCATGCCTTCCTTCACCTATGCACGCTACACCTATCCTTACTTCCTCAGTGCTGACTTCTGCCAGGCCCTAGGCTACCCACCTGGGGATGTAGAAATGTAGAAATGAACACAGACACGTGGGCCCTGTGCCTGTGGGTTTAAGGTCCGGGGAAGGACAGGCAAGCACACACTAATAATTGAGATGAGTGCCACAGTAAGGATCACAAAGAGGGGGCCTCTGCACCTAGTTTGGGTGGGAGGGGAGGCGTAGAGAAAGGTTACCTGGAGGGAGTGACATTGGAACTGTGCTCTGTGCTCTGGGAAGGCCCTCAGTGACTCCTCAGTTGTCTACTTCACTGGCCCAAGTCACCTGCAGGGACGCTTGCTGTGTTCTCCAGCCTCAGAGCTTGGTGTGCAGCCCTGCCCTGCTTACCATGATGCTGCCATCACAGGGGCTGGAGACAAGTGGACCCAACGCTGTTCACTCAAGGAGATTCCCTTTGCTGCATCCCTCCTCCTGGTCTCAGGAATCTCCATGTCCCCTGCAGTGTTCTCTGACTGACTCCAAGCGCTTCCTCCACCCCTTACCTTTCCAGGGAGCACCCAGTTTAGTTGAATTCTCCTCTGTGAGCCTGAAACACACATGCACTTTATTGCCACCATAGTGAGGAGAGAGAGTGTGAAAACTGCCCAGCCTTTAGAAGCACAATGCTTGATTATTTCCCAGCACAGGAAAGGAGATGTTTACAGACTTGGCCTTTTTCCTTAGTAAATCAGAGTTTCTTATTATATGACAGACACTATGCTAACAGCTTTGCATGCATTATTGCATCTGCCCATCCCAGCCCTGTGAACAGGTGACATAATCATTTTCCTTTTGCAATTGAGGAAGCAGAGTCTGACAGAGGTTAAGTGACCTGCCCAAGGTTGCATAGCTAGCCCTATTATTAAACGGAACTCCCAGTTTGTCTATGTCCAGAACCCATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGCCACCCAGGCTGGAGTGCAATGGCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTTC
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Task1_train_20560
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An alteration has been detected in CAPN3 (calpain 3) on Chromosome 15. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Autosomal recessive limb-girdle muscular dystrophy
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GGGAGGCAGAGGTTACAGTGAGCCCAGATTGCGCCACTGCACTCCAGCCTGGGCGACAAGAGAGACTCTGTCTTGGAAAAAAAAAAAAAAATGTTGTCTTAGTATAATGTCAAGGGAAAGGTTTTTTGTGTTTTTATTACTTTATTTTTTATTTAAAAACTATAATAGAGACGGGCCTCGCTATATTTCTCGGGCTGGTCTCAAACTCCTGGGCTCAAGCGGTCCTCCCACCTTGGCCTCCCAAAATGCTGGCATGTGGGCCTGGTCAACATATGGGACCCCAACTCTACAAAAAATTTTAAAATTAGCCAGATGTGGTGGCGTGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAAGCAGGGGGTCACTTGAGCCCAGGAGGTTGAGGCTGCAGTGAACTATGATTGTACCACTGCAGTCCATCCTGGGCAACAGAGCAAGACACTGTCTTAAAAAAAAAGTGCTGGGATTACAGATGTAAGCCACCACACCTGGCCTTCTATTTTTTATGGATATATCATAGCTATATATATTTTTGGGGTACATATGTACCCATATTTTGGGGGTACATATGTACCCATATTTTGGGGGTACATATGATATTTTGATACACATATACAATGTGTAATGATCAAATTAGGGTAATTGAGATACCATCATCTCAAATATGTATCTTTTCTTTGTGTTGGGAACATTACAATTCTTTTCCTCTAGTTATTTTGAAAGATATATAGGCTGGGCGTGGTGGCTTATGCCTGTAATCCCAGCACCTTGGGAGGCTGAGGCGGGCAGATCACTTGAGGTCAGAAGTTCAAGACTAGCCTGGTCAACATGGTGAAACCCCATCTCTACAAAAATACAAAAATTAGCCAGGTGTGGTGGTGTGCACCTGTAATCCCAGCTGCTCAGCTGGCTGAGGCAGGAGAATCCCTTGACCTCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCAACAGAGCGAGACTCTGTCTCAAAAAATACACACACACACACACACACACACACACACACACACACACACACATATATATACACACATATATATACACACACATATACACACACACACGTCTGTATATATATGTGTGTGTGTATATATACACACACACACTATACTATAAATTCTTGTTTAGCTATGTTTGTCTTACTGTGCTATTGAGCATTAGAGCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTTTGTCGCCCAGGCTGGCATACAATGGCGCAATATCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAACTAGGATTACAAGTGCCCGCCATAATGCTCAGCTAATTTTTGTATTTTCAGTAGAGATGGGGTTTCACCATGTTGGCCAAGCTGGTCTCAAACTCCTAGCCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACAGCACCCTGGTGAGCACTAGAGCTTATTTCTTCTATCTAACTGTATTTTTGTATCCATTAGCCACCCTCTTTTCATCCTCCCCTCTCCTTCCCTTCCCAGCCTCTGGTAACCACTGTCTGCTCTCTACTTCCATGACATATGCTTTGTTTTAGCTCTCACATATGAGTGAGAGCATGCGACATTTATCTTTCTGGCCCTGGCACATTTTTGAATCATTGTTAGAAAAGATGATGGTTTGGAGTAGATACATCAGAAGTGACAGCGTTTGCCCTAAAAAGGAAAGACAGGCTCCTCTGGGACCCTGACCAAGTTCCTGTGAACTATTTTATTATTGTGCTGTGTTAGTCCTGGGGTCTTCCGTTCCCAGCCCTCCTCACCTGCTCCCATATGGCTCTCTCTCTTCTTCCAACCTCTCAGGATGTCCTATGAGGATTTCATCTACCATTTCACAAAGTTGGAGATCTGCAACCTCACGGCCGATGCTCTGCAGTCTGACAAGCTTCAGACCTGGACAGTGTCTGTGAACGAGGGCCGCTGGGTACGGGGTTGCTCTGCCGGAGGCTGCCGCAACTTCCCAGGTGGGAGATGCTCTTGATGGGGGGAGGGTCTAAGCCGAAAAAGTTCCAGGCAGAAGAAGCCTAACTAGTGCTTATTAAGTCTCTCTGTTCCAGACGTCCACTATCTTATTAAACCTTCCCTGTTTTACTGAGAAGGAAACCACCATGCTGAGAAGTTTGCAATAGGGAGCTGGTAGCAACTTTGAAGCAGGAAACTGTGGGAACAATGCAGATGCTGCTTGACTTACGATGAGGTTATGTCCAGATAAGCCCATCCATCTTTGAAAATACCCTAAGTGAAAAGTGCATTCAATATGCCTAACCCACCAAACATCATAGCTTAGCCTGGCCTACCTTAAACATGCTCGGAACACTGACCTTAGCCTAAAGTTGGGCAAAATCATCTAACTCAAAGCCTATTTTACAAGAAAGTGTTGAATATCTCATGTAACTTACTTAATACTGTACTAAAAGTGAAAAACAGAATGGTTGTACGGGTACTCGAAATCCAGTTTCTACTGAATGTGCATCTCTTTCACATTGTAAAGTTAAAAAATTGTAGCCGAACCATCCTAAGTCAGGGACTGTGAGTACTGTGTCAGTAACAGTAAGGGCACTATTGGAGAACCAAGTTAGCAGCTGCTGCAATAGTTCAAGTCAGAGATGATGAAAACCTAGACCAAGTCAGTAGCAGCAGAGATGGAGGGGAGACAGCAGATTTAGGGAGAGCATATTGGGTGATGTAGGGAAGGAAGAAGAATGATGTCAAGATTCCCAGTTGGGGACCTGACAACATTGCAACATAAGACACACAAGAAGATCGGGTGGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCAGAGCCAGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCACAGGCAACATAGTGACACCTCATCGTTACAAAAAATAAAAAAAAAAATGAGGTGGGAGGATTGCTTGAGCTCGGGAGGTTGAGGCTACAATAAACTGTGATCATGCCACTGCACTCCTGCCTGGGTGACAGAGTGAGACCCTGCCTCAAAAAAAAAAGACACACAAGAGAAAAATATCAGCGTGTTGTTTGTTTTTGGTGGAGTTAATTGTGGGGTTCTAGGGAAAGGAATTTAGCTTGGGACATGGAAAGTTTGAGGTTCCTGTAGAGTGTCCCAGTGAAGATTTGTAATAGAGCATCGGATGCGCATATTAGATGGCACTTGGTGATATGATAAGAACTCAAAAAATATTTGAGGAATAAAGGAAAGAAGAGGCCAGACGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCATCATGCGCGTGTAGGGGGCAGTTAAAAAGCAGAAGTAAGAAAGATTGCCTAGGGAGGCAGGAAGGGTGAGGTGAGAGGAGAAGAGGCCCAGGACCAGATTCTAGTCACCAACAGCGTTTAAGGGGCAGGTAAGGAAAACAAAACCATCAGCAAAGACTGAGAATGAAAGCCCAGAGAGGAAGGAAAAGCCACACATACAATCAGTACAGCTCCATCTGAATAAAGGTAGCGCCCCCCCCCCCCCCAAATCATTAGAGAAATGCCTGAATCGTGTTTTCTGTTGATATTTCCTAAGCACCTAGATGTAGGGAATAGAAATAAATGGCTCCCTCTGTCTCATCCCCTTCCTGCCCTCTGAGAGGCAGCTGTGAATGCGTGCTTCCTTTCTGGGGGTGCAGATACTTTCTGGACCAACCCTCAGT
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GGGAGGCAGAGGTTACAGTGAGCCCAGATTGCGCCACTGCACTCCAGCCTGGGCGACAAGAGAGACTCTGTCTTGGAAAAAAAAAAAAAAATGTTGTCTTAGTATAATGTCAAGGGAAAGGTTTTTTGTGTTTTTATTACTTTATTTTTTATTTAAAAACTATAATAGAGACGGGCCTCGCTATATTTCTCGGGCTGGTCTCAAACTCCTGGGCTCAAGCGGTCCTCCCACCTTGGCCTCCCAAAATGCTGGCATGTGGGCCTGGTCAACATATGGGACCCCAACTCTACAAAAAATTTTAAAATTAGCCAGATGTGGTGGCGTGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAAGCAGGGGGTCACTTGAGCCCAGGAGGTTGAGGCTGCAGTGAACTATGATTGTACCACTGCAGTCCATCCTGGGCAACAGAGCAAGACACTGTCTTAAAAAAAAAGTGCTGGGATTACAGATGTAAGCCACCACACCTGGCCTTCTATTTTTTATGGATATATCATAGCTATATATATTTTTGGGGTACATATGTACCCATATTTTGGGGGTACATATGTACCCATATTTTGGGGGTACATATGATATTTTGATACACATATACAATGTGTAATGATCAAATTAGGGTAATTGAGATACCATCATCTCAAATATGTATCTTTTCTTTGTGTTGGGAACATTACAATTCTTTTCCTCTAGTTATTTTGAAAGATATATAGGCTGGGCGTGGTGGCTTATGCCTGTAATCCCAGCACCTTGGGAGGCTGAGGCGGGCAGATCACTTGAGGTCAGAAGTTCAAGACTAGCCTGGTCAACATGGTGAAACCCCATCTCTACAAAAATACAAAAATTAGCCAGGTGTGGTGGTGTGCACCTGTAATCCCAGCTGCTCAGCTGGCTGAGGCAGGAGAATCCCTTGACCTCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCAACAGAGCGAGACTCTGTCTCAAAAAATACACACACACACACACACACACACACACACACACACACACACACATATATATACACACATATATATACACACACATATACACACACACACGTCTGTATATATATGTGTGTGTGTATATATACACACACACACTATACTATAAATTCTTGTTTAGCTATGTTTGTCTTACTGTGCTATTGAGCATTAGAGCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTTTGTCGCCCAGGCTGGCATACAATGGCGCAATATCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAACTAGGATTACAAGTGCCCGCCATAATGCTCAGCTAATTTTTGTATTTTCAGTAGAGATGGGGTTTCACCATGTTGGCCAAGCTGGTCTCAAACTCCTAGCCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACAGCACCCTGGTGAGCACTAGAGCTTATTTCTTCTATCTAACTGTATTTTTGTATCCATTAGCCACCCTCTTTTCATCCTCCCCTCTCCTTCCCTTCCCAGCCTCTGGTAACCACTGTCTGCTCTCTACTTCCATGACATATGCTTTGTTTTAGCTCTCACATATGAGTGAGAGCATGCGACATTTATCTTTCTGGCCCTGGCACATTTTTGAATCATTGTTAGAAAAGATGATGGTTTGGAGTAGATACATCAGAAGTGACAGCGTTTGCCCTAAAAAGGAAAGACAGGCTCCTCTGGGACCCTGACCAAGTTCCTGTGAACTATTTTATTATTGTGCTGTGTTAGTCCTGGGGTCTTCCGTTCCCAGCCCTCCTCACCTGCTCCCATATGGCTCTCTCTCTTCTTCCAACCTCTCAGGATGTCCTATGAGGATTTCATCTACCATTTCACAAAGTTGGAGATCTGCAACCTCACGGCCGATGCTCTGCAGTCTGACAAGCTTCAGACCTGGACAGTGTCTGTGAACGAGGGCCGCTGGGTACAGGGTTGCTCTGCCGGAGGCTGCCGCAACTTCCCAGGTGGGAGATGCTCTTGATGGGGGGAGGGTCTAAGCCGAAAAAGTTCCAGGCAGAAGAAGCCTAACTAGTGCTTATTAAGTCTCTCTGTTCCAGACGTCCACTATCTTATTAAACCTTCCCTGTTTTACTGAGAAGGAAACCACCATGCTGAGAAGTTTGCAATAGGGAGCTGGTAGCAACTTTGAAGCAGGAAACTGTGGGAACAATGCAGATGCTGCTTGACTTACGATGAGGTTATGTCCAGATAAGCCCATCCATCTTTGAAAATACCCTAAGTGAAAAGTGCATTCAATATGCCTAACCCACCAAACATCATAGCTTAGCCTGGCCTACCTTAAACATGCTCGGAACACTGACCTTAGCCTAAAGTTGGGCAAAATCATCTAACTCAAAGCCTATTTTACAAGAAAGTGTTGAATATCTCATGTAACTTACTTAATACTGTACTAAAAGTGAAAAACAGAATGGTTGTACGGGTACTCGAAATCCAGTTTCTACTGAATGTGCATCTCTTTCACATTGTAAAGTTAAAAAATTGTAGCCGAACCATCCTAAGTCAGGGACTGTGAGTACTGTGTCAGTAACAGTAAGGGCACTATTGGAGAACCAAGTTAGCAGCTGCTGCAATAGTTCAAGTCAGAGATGATGAAAACCTAGACCAAGTCAGTAGCAGCAGAGATGGAGGGGAGACAGCAGATTTAGGGAGAGCATATTGGGTGATGTAGGGAAGGAAGAAGAATGATGTCAAGATTCCCAGTTGGGGACCTGACAACATTGCAACATAAGACACACAAGAAGATCGGGTGGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCAGAGCCAGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCACAGGCAACATAGTGACACCTCATCGTTACAAAAAATAAAAAAAAAAATGAGGTGGGAGGATTGCTTGAGCTCGGGAGGTTGAGGCTACAATAAACTGTGATCATGCCACTGCACTCCTGCCTGGGTGACAGAGTGAGACCCTGCCTCAAAAAAAAAAGACACACAAGAGAAAAATATCAGCGTGTTGTTTGTTTTTGGTGGAGTTAATTGTGGGGTTCTAGGGAAAGGAATTTAGCTTGGGACATGGAAAGTTTGAGGTTCCTGTAGAGTGTCCCAGTGAAGATTTGTAATAGAGCATCGGATGCGCATATTAGATGGCACTTGGTGATATGATAAGAACTCAAAAAATATTTGAGGAATAAAGGAAAGAAGAGGCCAGACGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCATCATGCGCGTGTAGGGGGCAGTTAAAAAGCAGAAGTAAGAAAGATTGCCTAGGGAGGCAGGAAGGGTGAGGTGAGAGGAGAAGAGGCCCAGGACCAGATTCTAGTCACCAACAGCGTTTAAGGGGCAGGTAAGGAAAACAAAACCATCAGCAAAGACTGAGAATGAAAGCCCAGAGAGGAAGGAAAAGCCACACATACAATCAGTACAGCTCCATCTGAATAAAGGTAGCGCCCCCCCCCCCCCCAAATCATTAGAGAAATGCCTGAATCGTGTTTTCTGTTGATATTTCCTAAGCACCTAGATGTAGGGAATAGAAATAAATGGCTCCCTCTGTCTCATCCCCTTCCTGCCCTCTGAGAGGCAGCTGTGAATGCGTGCTTCCTTTCTGGGGGTGCAGATACTTTCTGGACCAACCCTCAGT
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Task1_train_20561
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An alteration has been detected in CAPN3 (calpain 3) on Chromosome 15. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2A
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CCAGATTGCGCCACTGCACTCCAGCCTGGGCGACAAGAGAGACTCTGTCTTGGAAAAAAAAAAAAAAATGTTGTCTTAGTATAATGTCAAGGGAAAGGTTTTTTGTGTTTTTATTACTTTATTTTTTATTTAAAAACTATAATAGAGACGGGCCTCGCTATATTTCTCGGGCTGGTCTCAAACTCCTGGGCTCAAGCGGTCCTCCCACCTTGGCCTCCCAAAATGCTGGCATGTGGGCCTGGTCAACATATGGGACCCCAACTCTACAAAAAATTTTAAAATTAGCCAGATGTGGTGGCGTGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAAGCAGGGGGTCACTTGAGCCCAGGAGGTTGAGGCTGCAGTGAACTATGATTGTACCACTGCAGTCCATCCTGGGCAACAGAGCAAGACACTGTCTTAAAAAAAAAGTGCTGGGATTACAGATGTAAGCCACCACACCTGGCCTTCTATTTTTTATGGATATATCATAGCTATATATATTTTTGGGGTACATATGTACCCATATTTTGGGGGTACATATGTACCCATATTTTGGGGGTACATATGATATTTTGATACACATATACAATGTGTAATGATCAAATTAGGGTAATTGAGATACCATCATCTCAAATATGTATCTTTTCTTTGTGTTGGGAACATTACAATTCTTTTCCTCTAGTTATTTTGAAAGATATATAGGCTGGGCGTGGTGGCTTATGCCTGTAATCCCAGCACCTTGGGAGGCTGAGGCGGGCAGATCACTTGAGGTCAGAAGTTCAAGACTAGCCTGGTCAACATGGTGAAACCCCATCTCTACAAAAATACAAAAATTAGCCAGGTGTGGTGGTGTGCACCTGTAATCCCAGCTGCTCAGCTGGCTGAGGCAGGAGAATCCCTTGACCTCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCAACAGAGCGAGACTCTGTCTCAAAAAATACACACACACACACACACACACACACACACACACACACACACACATATATATACACACATATATATACACACACATATACACACACACACGTCTGTATATATATGTGTGTGTGTATATATACACACACACACTATACTATAAATTCTTGTTTAGCTATGTTTGTCTTACTGTGCTATTGAGCATTAGAGCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTTTGTCGCCCAGGCTGGCATACAATGGCGCAATATCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAACTAGGATTACAAGTGCCCGCCATAATGCTCAGCTAATTTTTGTATTTTCAGTAGAGATGGGGTTTCACCATGTTGGCCAAGCTGGTCTCAAACTCCTAGCCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACAGCACCCTGGTGAGCACTAGAGCTTATTTCTTCTATCTAACTGTATTTTTGTATCCATTAGCCACCCTCTTTTCATCCTCCCCTCTCCTTCCCTTCCCAGCCTCTGGTAACCACTGTCTGCTCTCTACTTCCATGACATATGCTTTGTTTTAGCTCTCACATATGAGTGAGAGCATGCGACATTTATCTTTCTGGCCCTGGCACATTTTTGAATCATTGTTAGAAAAGATGATGGTTTGGAGTAGATACATCAGAAGTGACAGCGTTTGCCCTAAAAAGGAAAGACAGGCTCCTCTGGGACCCTGACCAAGTTCCTGTGAACTATTTTATTATTGTGCTGTGTTAGTCCTGGGGTCTTCCGTTCCCAGCCCTCCTCACCTGCTCCCATATGGCTCTCTCTCTTCTTCCAACCTCTCAGGATGTCCTATGAGGATTTCATCTACCATTTCACAAAGTTGGAGATCTGCAACCTCACGGCCGATGCTCTGCAGTCTGACAAGCTTCAGACCTGGACAGTGTCTGTGAACGAGGGCCGCTGGGTACGGGGTTGCTCTGCCGGAGGCTGCCGCAACTTCCCAGGTGGGAGATGCTCTTGATGGGGGGAGGGTCTAAGCCGAAAAAGTTCCAGGCAGAAGAAGCCTAACTAGTGCTTATTAAGTCTCTCTGTTCCAGACGTCCACTATCTTATTAAACCTTCCCTGTTTTACTGAGAAGGAAACCACCATGCTGAGAAGTTTGCAATAGGGAGCTGGTAGCAACTTTGAAGCAGGAAACTGTGGGAACAATGCAGATGCTGCTTGACTTACGATGAGGTTATGTCCAGATAAGCCCATCCATCTTTGAAAATACCCTAAGTGAAAAGTGCATTCAATATGCCTAACCCACCAAACATCATAGCTTAGCCTGGCCTACCTTAAACATGCTCGGAACACTGACCTTAGCCTAAAGTTGGGCAAAATCATCTAACTCAAAGCCTATTTTACAAGAAAGTGTTGAATATCTCATGTAACTTACTTAATACTGTACTAAAAGTGAAAAACAGAATGGTTGTACGGGTACTCGAAATCCAGTTTCTACTGAATGTGCATCTCTTTCACATTGTAAAGTTAAAAAATTGTAGCCGAACCATCCTAAGTCAGGGACTGTGAGTACTGTGTCAGTAACAGTAAGGGCACTATTGGAGAACCAAGTTAGCAGCTGCTGCAATAGTTCAAGTCAGAGATGATGAAAACCTAGACCAAGTCAGTAGCAGCAGAGATGGAGGGGAGACAGCAGATTTAGGGAGAGCATATTGGGTGATGTAGGGAAGGAAGAAGAATGATGTCAAGATTCCCAGTTGGGGACCTGACAACATTGCAACATAAGACACACAAGAAGATCGGGTGGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCAGAGCCAGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCACAGGCAACATAGTGACACCTCATCGTTACAAAAAATAAAAAAAAAAATGAGGTGGGAGGATTGCTTGAGCTCGGGAGGTTGAGGCTACAATAAACTGTGATCATGCCACTGCACTCCTGCCTGGGTGACAGAGTGAGACCCTGCCTCAAAAAAAAAAGACACACAAGAGAAAAATATCAGCGTGTTGTTTGTTTTTGGTGGAGTTAATTGTGGGGTTCTAGGGAAAGGAATTTAGCTTGGGACATGGAAAGTTTGAGGTTCCTGTAGAGTGTCCCAGTGAAGATTTGTAATAGAGCATCGGATGCGCATATTAGATGGCACTTGGTGATATGATAAGAACTCAAAAAATATTTGAGGAATAAAGGAAAGAAGAGGCCAGACGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCATCATGCGCGTGTAGGGGGCAGTTAAAAAGCAGAAGTAAGAAAGATTGCCTAGGGAGGCAGGAAGGGTGAGGTGAGAGGAGAAGAGGCCCAGGACCAGATTCTAGTCACCAACAGCGTTTAAGGGGCAGGTAAGGAAAACAAAACCATCAGCAAAGACTGAGAATGAAAGCCCAGAGAGGAAGGAAAAGCCACACATACAATCAGTACAGCTCCATCTGAATAAAGGTAGCGCCCCCCCCCCCCCCAAATCATTAGAGAAATGCCTGAATCGTGTTTTCTGTTGATATTTCCTAAGCACCTAGATGTAGGGAATAGAAATAAATGGCTCCCTCTGTCTCATCCCCTTCCTGCCCTCTGAGAGGCAGCTGTGAATGCGTGCTTCCTTTCTGGGGGTGCAGATACTTTCTGGACCAACCCTCAGTACCGTCTGAAGCTCCTGGAGGAG
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CCAGATTGCGCCACTGCACTCCAGCCTGGGCGACAAGAGAGACTCTGTCTTGGAAAAAAAAAAAAAAATGTTGTCTTAGTATAATGTCAAGGGAAAGGTTTTTTGTGTTTTTATTACTTTATTTTTTATTTAAAAACTATAATAGAGACGGGCCTCGCTATATTTCTCGGGCTGGTCTCAAACTCCTGGGCTCAAGCGGTCCTCCCACCTTGGCCTCCCAAAATGCTGGCATGTGGGCCTGGTCAACATATGGGACCCCAACTCTACAAAAAATTTTAAAATTAGCCAGATGTGGTGGCGTGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAAGCAGGGGGTCACTTGAGCCCAGGAGGTTGAGGCTGCAGTGAACTATGATTGTACCACTGCAGTCCATCCTGGGCAACAGAGCAAGACACTGTCTTAAAAAAAAAGTGCTGGGATTACAGATGTAAGCCACCACACCTGGCCTTCTATTTTTTATGGATATATCATAGCTATATATATTTTTGGGGTACATATGTACCCATATTTTGGGGGTACATATGTACCCATATTTTGGGGGTACATATGATATTTTGATACACATATACAATGTGTAATGATCAAATTAGGGTAATTGAGATACCATCATCTCAAATATGTATCTTTTCTTTGTGTTGGGAACATTACAATTCTTTTCCTCTAGTTATTTTGAAAGATATATAGGCTGGGCGTGGTGGCTTATGCCTGTAATCCCAGCACCTTGGGAGGCTGAGGCGGGCAGATCACTTGAGGTCAGAAGTTCAAGACTAGCCTGGTCAACATGGTGAAACCCCATCTCTACAAAAATACAAAAATTAGCCAGGTGTGGTGGTGTGCACCTGTAATCCCAGCTGCTCAGCTGGCTGAGGCAGGAGAATCCCTTGACCTCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCAACAGAGCGAGACTCTGTCTCAAAAAATACACACACACACACACACACACACACACACACACACACACACACATATATATACACACATATATATACACACACATATACACACACACACGTCTGTATATATATGTGTGTGTGTATATATACACACACACACTATACTATAAATTCTTGTTTAGCTATGTTTGTCTTACTGTGCTATTGAGCATTAGAGCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTTTGTCGCCCAGGCTGGCATACAATGGCGCAATATCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAACTAGGATTACAAGTGCCCGCCATAATGCTCAGCTAATTTTTGTATTTTCAGTAGAGATGGGGTTTCACCATGTTGGCCAAGCTGGTCTCAAACTCCTAGCCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACAGCACCCTGGTGAGCACTAGAGCTTATTTCTTCTATCTAACTGTATTTTTGTATCCATTAGCCACCCTCTTTTCATCCTCCCCTCTCCTTCCCTTCCCAGCCTCTGGTAACCACTGTCTGCTCTCTACTTCCATGACATATGCTTTGTTTTAGCTCTCACATATGAGTGAGAGCATGCGACATTTATCTTTCTGGCCCTGGCACATTTTTGAATCATTGTTAGAAAAGATGATGGTTTGGAGTAGATACATCAGAAGTGACAGCGTTTGCCCTAAAAAGGAAAGACAGGCTCCTCTGGGACCCTGACCAAGTTCCTGTGAACTATTTTATTATTGTGCTGTGTTAGTCCTGGGGTCTTCCGTTCCCAGCCCTCCTCACCTGCTCCCATATGGCTCTCTCTCTTCTTCCAACCTCTCAGGATGTCCTATGAGGATTTCATCTACCATTTCACAAAGTTGGAGATCTGCAACCTCACGGCCGATGCTCTGCAGTCTGACAAGCTTCAGACCTGGACAGTGTCTGTGAACGAGGGCCGCTGGGTACGGGGTTGCTCTGCCGGAGGCTGCTGCAACTTCCCAGGTGGGAGATGCTCTTGATGGGGGGAGGGTCTAAGCCGAAAAAGTTCCAGGCAGAAGAAGCCTAACTAGTGCTTATTAAGTCTCTCTGTTCCAGACGTCCACTATCTTATTAAACCTTCCCTGTTTTACTGAGAAGGAAACCACCATGCTGAGAAGTTTGCAATAGGGAGCTGGTAGCAACTTTGAAGCAGGAAACTGTGGGAACAATGCAGATGCTGCTTGACTTACGATGAGGTTATGTCCAGATAAGCCCATCCATCTTTGAAAATACCCTAAGTGAAAAGTGCATTCAATATGCCTAACCCACCAAACATCATAGCTTAGCCTGGCCTACCTTAAACATGCTCGGAACACTGACCTTAGCCTAAAGTTGGGCAAAATCATCTAACTCAAAGCCTATTTTACAAGAAAGTGTTGAATATCTCATGTAACTTACTTAATACTGTACTAAAAGTGAAAAACAGAATGGTTGTACGGGTACTCGAAATCCAGTTTCTACTGAATGTGCATCTCTTTCACATTGTAAAGTTAAAAAATTGTAGCCGAACCATCCTAAGTCAGGGACTGTGAGTACTGTGTCAGTAACAGTAAGGGCACTATTGGAGAACCAAGTTAGCAGCTGCTGCAATAGTTCAAGTCAGAGATGATGAAAACCTAGACCAAGTCAGTAGCAGCAGAGATGGAGGGGAGACAGCAGATTTAGGGAGAGCATATTGGGTGATGTAGGGAAGGAAGAAGAATGATGTCAAGATTCCCAGTTGGGGACCTGACAACATTGCAACATAAGACACACAAGAAGATCGGGTGGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCAGAGCCAGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCACAGGCAACATAGTGACACCTCATCGTTACAAAAAATAAAAAAAAAAATGAGGTGGGAGGATTGCTTGAGCTCGGGAGGTTGAGGCTACAATAAACTGTGATCATGCCACTGCACTCCTGCCTGGGTGACAGAGTGAGACCCTGCCTCAAAAAAAAAAGACACACAAGAGAAAAATATCAGCGTGTTGTTTGTTTTTGGTGGAGTTAATTGTGGGGTTCTAGGGAAAGGAATTTAGCTTGGGACATGGAAAGTTTGAGGTTCCTGTAGAGTGTCCCAGTGAAGATTTGTAATAGAGCATCGGATGCGCATATTAGATGGCACTTGGTGATATGATAAGAACTCAAAAAATATTTGAGGAATAAAGGAAAGAAGAGGCCAGACGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCATCATGCGCGTGTAGGGGGCAGTTAAAAAGCAGAAGTAAGAAAGATTGCCTAGGGAGGCAGGAAGGGTGAGGTGAGAGGAGAAGAGGCCCAGGACCAGATTCTAGTCACCAACAGCGTTTAAGGGGCAGGTAAGGAAAACAAAACCATCAGCAAAGACTGAGAATGAAAGCCCAGAGAGGAAGGAAAAGCCACACATACAATCAGTACAGCTCCATCTGAATAAAGGTAGCGCCCCCCCCCCCCCCAAATCATTAGAGAAATGCCTGAATCGTGTTTTCTGTTGATATTTCCTAAGCACCTAGATGTAGGGAATAGAAATAAATGGCTCCCTCTGTCTCATCCCCTTCCTGCCCTCTGAGAGGCAGCTGTGAATGCGTGCTTCCTTTCTGGGGGTGCAGATACTTTCTGGACCAACCCTCAGTACCGTCTGAAGCTCCTGGAGGAG
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Task1_train_20562
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This genomic variant is located on Chromosome 15, within the CAPN3 (calpain 3) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Muscular dystrophy, limb-girdle, autosomal dominant 4
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CCAGATTGCGCCACTGCACTCCAGCCTGGGCGACAAGAGAGACTCTGTCTTGGAAAAAAAAAAAAAAATGTTGTCTTAGTATAATGTCAAGGGAAAGGTTTTTTGTGTTTTTATTACTTTATTTTTTATTTAAAAACTATAATAGAGACGGGCCTCGCTATATTTCTCGGGCTGGTCTCAAACTCCTGGGCTCAAGCGGTCCTCCCACCTTGGCCTCCCAAAATGCTGGCATGTGGGCCTGGTCAACATATGGGACCCCAACTCTACAAAAAATTTTAAAATTAGCCAGATGTGGTGGCGTGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAAGCAGGGGGTCACTTGAGCCCAGGAGGTTGAGGCTGCAGTGAACTATGATTGTACCACTGCAGTCCATCCTGGGCAACAGAGCAAGACACTGTCTTAAAAAAAAAGTGCTGGGATTACAGATGTAAGCCACCACACCTGGCCTTCTATTTTTTATGGATATATCATAGCTATATATATTTTTGGGGTACATATGTACCCATATTTTGGGGGTACATATGTACCCATATTTTGGGGGTACATATGATATTTTGATACACATATACAATGTGTAATGATCAAATTAGGGTAATTGAGATACCATCATCTCAAATATGTATCTTTTCTTTGTGTTGGGAACATTACAATTCTTTTCCTCTAGTTATTTTGAAAGATATATAGGCTGGGCGTGGTGGCTTATGCCTGTAATCCCAGCACCTTGGGAGGCTGAGGCGGGCAGATCACTTGAGGTCAGAAGTTCAAGACTAGCCTGGTCAACATGGTGAAACCCCATCTCTACAAAAATACAAAAATTAGCCAGGTGTGGTGGTGTGCACCTGTAATCCCAGCTGCTCAGCTGGCTGAGGCAGGAGAATCCCTTGACCTCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCAACAGAGCGAGACTCTGTCTCAAAAAATACACACACACACACACACACACACACACACACACACACACACACATATATATACACACATATATATACACACACATATACACACACACACGTCTGTATATATATGTGTGTGTGTATATATACACACACACACTATACTATAAATTCTTGTTTAGCTATGTTTGTCTTACTGTGCTATTGAGCATTAGAGCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTTTGTCGCCCAGGCTGGCATACAATGGCGCAATATCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAACTAGGATTACAAGTGCCCGCCATAATGCTCAGCTAATTTTTGTATTTTCAGTAGAGATGGGGTTTCACCATGTTGGCCAAGCTGGTCTCAAACTCCTAGCCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACAGCACCCTGGTGAGCACTAGAGCTTATTTCTTCTATCTAACTGTATTTTTGTATCCATTAGCCACCCTCTTTTCATCCTCCCCTCTCCTTCCCTTCCCAGCCTCTGGTAACCACTGTCTGCTCTCTACTTCCATGACATATGCTTTGTTTTAGCTCTCACATATGAGTGAGAGCATGCGACATTTATCTTTCTGGCCCTGGCACATTTTTGAATCATTGTTAGAAAAGATGATGGTTTGGAGTAGATACATCAGAAGTGACAGCGTTTGCCCTAAAAAGGAAAGACAGGCTCCTCTGGGACCCTGACCAAGTTCCTGTGAACTATTTTATTATTGTGCTGTGTTAGTCCTGGGGTCTTCCGTTCCCAGCCCTCCTCACCTGCTCCCATATGGCTCTCTCTCTTCTTCCAACCTCTCAGGATGTCCTATGAGGATTTCATCTACCATTTCACAAAGTTGGAGATCTGCAACCTCACGGCCGATGCTCTGCAGTCTGACAAGCTTCAGACCTGGACAGTGTCTGTGAACGAGGGCCGCTGGGTACGGGGTTGCTCTGCCGGAGGCTGCCGCAACTTCCCAGGTGGGAGATGCTCTTGATGGGGGGAGGGTCTAAGCCGAAAAAGTTCCAGGCAGAAGAAGCCTAACTAGTGCTTATTAAGTCTCTCTGTTCCAGACGTCCACTATCTTATTAAACCTTCCCTGTTTTACTGAGAAGGAAACCACCATGCTGAGAAGTTTGCAATAGGGAGCTGGTAGCAACTTTGAAGCAGGAAACTGTGGGAACAATGCAGATGCTGCTTGACTTACGATGAGGTTATGTCCAGATAAGCCCATCCATCTTTGAAAATACCCTAAGTGAAAAGTGCATTCAATATGCCTAACCCACCAAACATCATAGCTTAGCCTGGCCTACCTTAAACATGCTCGGAACACTGACCTTAGCCTAAAGTTGGGCAAAATCATCTAACTCAAAGCCTATTTTACAAGAAAGTGTTGAATATCTCATGTAACTTACTTAATACTGTACTAAAAGTGAAAAACAGAATGGTTGTACGGGTACTCGAAATCCAGTTTCTACTGAATGTGCATCTCTTTCACATTGTAAAGTTAAAAAATTGTAGCCGAACCATCCTAAGTCAGGGACTGTGAGTACTGTGTCAGTAACAGTAAGGGCACTATTGGAGAACCAAGTTAGCAGCTGCTGCAATAGTTCAAGTCAGAGATGATGAAAACCTAGACCAAGTCAGTAGCAGCAGAGATGGAGGGGAGACAGCAGATTTAGGGAGAGCATATTGGGTGATGTAGGGAAGGAAGAAGAATGATGTCAAGATTCCCAGTTGGGGACCTGACAACATTGCAACATAAGACACACAAGAAGATCGGGTGGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCAGAGCCAGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCACAGGCAACATAGTGACACCTCATCGTTACAAAAAATAAAAAAAAAAATGAGGTGGGAGGATTGCTTGAGCTCGGGAGGTTGAGGCTACAATAAACTGTGATCATGCCACTGCACTCCTGCCTGGGTGACAGAGTGAGACCCTGCCTCAAAAAAAAAAGACACACAAGAGAAAAATATCAGCGTGTTGTTTGTTTTTGGTGGAGTTAATTGTGGGGTTCTAGGGAAAGGAATTTAGCTTGGGACATGGAAAGTTTGAGGTTCCTGTAGAGTGTCCCAGTGAAGATTTGTAATAGAGCATCGGATGCGCATATTAGATGGCACTTGGTGATATGATAAGAACTCAAAAAATATTTGAGGAATAAAGGAAAGAAGAGGCCAGACGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCATCATGCGCGTGTAGGGGGCAGTTAAAAAGCAGAAGTAAGAAAGATTGCCTAGGGAGGCAGGAAGGGTGAGGTGAGAGGAGAAGAGGCCCAGGACCAGATTCTAGTCACCAACAGCGTTTAAGGGGCAGGTAAGGAAAACAAAACCATCAGCAAAGACTGAGAATGAAAGCCCAGAGAGGAAGGAAAAGCCACACATACAATCAGTACAGCTCCATCTGAATAAAGGTAGCGCCCCCCCCCCCCCCAAATCATTAGAGAAATGCCTGAATCGTGTTTTCTGTTGATATTTCCTAAGCACCTAGATGTAGGGAATAGAAATAAATGGCTCCCTCTGTCTCATCCCCTTCCTGCCCTCTGAGAGGCAGCTGTGAATGCGTGCTTCCTTTCTGGGGGTGCAGATACTTTCTGGACCAACCCTCAGTACCGTCTGAAGCTCCTGGAGGAG
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CCAGATTGCGCCACTGCACTCCAGCCTGGGCGACAAGAGAGACTCTGTCTTGGAAAAAAAAAAAAAAATGTTGTCTTAGTATAATGTCAAGGGAAAGGTTTTTTGTGTTTTTATTACTTTATTTTTTATTTAAAAACTATAATAGAGACGGGCCTCGCTATATTTCTCGGGCTGGTCTCAAACTCCTGGGCTCAAGCGGTCCTCCCACCTTGGCCTCCCAAAATGCTGGCATGTGGGCCTGGTCAACATATGGGACCCCAACTCTACAAAAAATTTTAAAATTAGCCAGATGTGGTGGCGTGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAAGCAGGGGGTCACTTGAGCCCAGGAGGTTGAGGCTGCAGTGAACTATGATTGTACCACTGCAGTCCATCCTGGGCAACAGAGCAAGACACTGTCTTAAAAAAAAAGTGCTGGGATTACAGATGTAAGCCACCACACCTGGCCTTCTATTTTTTATGGATATATCATAGCTATATATATTTTTGGGGTACATATGTACCCATATTTTGGGGGTACATATGTACCCATATTTTGGGGGTACATATGATATTTTGATACACATATACAATGTGTAATGATCAAATTAGGGTAATTGAGATACCATCATCTCAAATATGTATCTTTTCTTTGTGTTGGGAACATTACAATTCTTTTCCTCTAGTTATTTTGAAAGATATATAGGCTGGGCGTGGTGGCTTATGCCTGTAATCCCAGCACCTTGGGAGGCTGAGGCGGGCAGATCACTTGAGGTCAGAAGTTCAAGACTAGCCTGGTCAACATGGTGAAACCCCATCTCTACAAAAATACAAAAATTAGCCAGGTGTGGTGGTGTGCACCTGTAATCCCAGCTGCTCAGCTGGCTGAGGCAGGAGAATCCCTTGACCTCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCAACAGAGCGAGACTCTGTCTCAAAAAATACACACACACACACACACACACACACACACACACACACACACACATATATATACACACATATATATACACACACATATACACACACACACGTCTGTATATATATGTGTGTGTGTATATATACACACACACACTATACTATAAATTCTTGTTTAGCTATGTTTGTCTTACTGTGCTATTGAGCATTAGAGCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTTTGTCGCCCAGGCTGGCATACAATGGCGCAATATCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAACTAGGATTACAAGTGCCCGCCATAATGCTCAGCTAATTTTTGTATTTTCAGTAGAGATGGGGTTTCACCATGTTGGCCAAGCTGGTCTCAAACTCCTAGCCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACAGCACCCTGGTGAGCACTAGAGCTTATTTCTTCTATCTAACTGTATTTTTGTATCCATTAGCCACCCTCTTTTCATCCTCCCCTCTCCTTCCCTTCCCAGCCTCTGGTAACCACTGTCTGCTCTCTACTTCCATGACATATGCTTTGTTTTAGCTCTCACATATGAGTGAGAGCATGCGACATTTATCTTTCTGGCCCTGGCACATTTTTGAATCATTGTTAGAAAAGATGATGGTTTGGAGTAGATACATCAGAAGTGACAGCGTTTGCCCTAAAAAGGAAAGACAGGCTCCTCTGGGACCCTGACCAAGTTCCTGTGAACTATTTTATTATTGTGCTGTGTTAGTCCTGGGGTCTTCCGTTCCCAGCCCTCCTCACCTGCTCCCATATGGCTCTCTCTCTTCTTCCAACCTCTCAGGATGTCCTATGAGGATTTCATCTACCATTTCACAAAGTTGGAGATCTGCAACCTCACGGCCGATGCTCTGCAGTCTGACAAGCTTCAGACCTGGACAGTGTCTGTGAACGAGGGCCGCTGGGTACGGGGTTGCTCTGCCGGAGGCTGCTGCAACTTCCCAGGTGGGAGATGCTCTTGATGGGGGGAGGGTCTAAGCCGAAAAAGTTCCAGGCAGAAGAAGCCTAACTAGTGCTTATTAAGTCTCTCTGTTCCAGACGTCCACTATCTTATTAAACCTTCCCTGTTTTACTGAGAAGGAAACCACCATGCTGAGAAGTTTGCAATAGGGAGCTGGTAGCAACTTTGAAGCAGGAAACTGTGGGAACAATGCAGATGCTGCTTGACTTACGATGAGGTTATGTCCAGATAAGCCCATCCATCTTTGAAAATACCCTAAGTGAAAAGTGCATTCAATATGCCTAACCCACCAAACATCATAGCTTAGCCTGGCCTACCTTAAACATGCTCGGAACACTGACCTTAGCCTAAAGTTGGGCAAAATCATCTAACTCAAAGCCTATTTTACAAGAAAGTGTTGAATATCTCATGTAACTTACTTAATACTGTACTAAAAGTGAAAAACAGAATGGTTGTACGGGTACTCGAAATCCAGTTTCTACTGAATGTGCATCTCTTTCACATTGTAAAGTTAAAAAATTGTAGCCGAACCATCCTAAGTCAGGGACTGTGAGTACTGTGTCAGTAACAGTAAGGGCACTATTGGAGAACCAAGTTAGCAGCTGCTGCAATAGTTCAAGTCAGAGATGATGAAAACCTAGACCAAGTCAGTAGCAGCAGAGATGGAGGGGAGACAGCAGATTTAGGGAGAGCATATTGGGTGATGTAGGGAAGGAAGAAGAATGATGTCAAGATTCCCAGTTGGGGACCTGACAACATTGCAACATAAGACACACAAGAAGATCGGGTGGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCAGAGCCAGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCACAGGCAACATAGTGACACCTCATCGTTACAAAAAATAAAAAAAAAAATGAGGTGGGAGGATTGCTTGAGCTCGGGAGGTTGAGGCTACAATAAACTGTGATCATGCCACTGCACTCCTGCCTGGGTGACAGAGTGAGACCCTGCCTCAAAAAAAAAAGACACACAAGAGAAAAATATCAGCGTGTTGTTTGTTTTTGGTGGAGTTAATTGTGGGGTTCTAGGGAAAGGAATTTAGCTTGGGACATGGAAAGTTTGAGGTTCCTGTAGAGTGTCCCAGTGAAGATTTGTAATAGAGCATCGGATGCGCATATTAGATGGCACTTGGTGATATGATAAGAACTCAAAAAATATTTGAGGAATAAAGGAAAGAAGAGGCCAGACGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCATCATGCGCGTGTAGGGGGCAGTTAAAAAGCAGAAGTAAGAAAGATTGCCTAGGGAGGCAGGAAGGGTGAGGTGAGAGGAGAAGAGGCCCAGGACCAGATTCTAGTCACCAACAGCGTTTAAGGGGCAGGTAAGGAAAACAAAACCATCAGCAAAGACTGAGAATGAAAGCCCAGAGAGGAAGGAAAAGCCACACATACAATCAGTACAGCTCCATCTGAATAAAGGTAGCGCCCCCCCCCCCCCCAAATCATTAGAGAAATGCCTGAATCGTGTTTTCTGTTGATATTTCCTAAGCACCTAGATGTAGGGAATAGAAATAAATGGCTCCCTCTGTCTCATCCCCTTCCTGCCCTCTGAGAGGCAGCTGTGAATGCGTGCTTCCTTTCTGGGGGTGCAGATACTTTCTGGACCAACCCTCAGTACCGTCTGAAGCTCCTGGAGGAG
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Task1_train_20563
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A variant on Chromosome 15 in gene CAPN3 (calpain 3) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Muscular dystrophy, limb-girdle, autosomal dominant 4
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CCAGATTGCGCCACTGCACTCCAGCCTGGGCGACAAGAGAGACTCTGTCTTGGAAAAAAAAAAAAAAATGTTGTCTTAGTATAATGTCAAGGGAAAGGTTTTTTGTGTTTTTATTACTTTATTTTTTATTTAAAAACTATAATAGAGACGGGCCTCGCTATATTTCTCGGGCTGGTCTCAAACTCCTGGGCTCAAGCGGTCCTCCCACCTTGGCCTCCCAAAATGCTGGCATGTGGGCCTGGTCAACATATGGGACCCCAACTCTACAAAAAATTTTAAAATTAGCCAGATGTGGTGGCGTGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAAGCAGGGGGTCACTTGAGCCCAGGAGGTTGAGGCTGCAGTGAACTATGATTGTACCACTGCAGTCCATCCTGGGCAACAGAGCAAGACACTGTCTTAAAAAAAAAGTGCTGGGATTACAGATGTAAGCCACCACACCTGGCCTTCTATTTTTTATGGATATATCATAGCTATATATATTTTTGGGGTACATATGTACCCATATTTTGGGGGTACATATGTACCCATATTTTGGGGGTACATATGATATTTTGATACACATATACAATGTGTAATGATCAAATTAGGGTAATTGAGATACCATCATCTCAAATATGTATCTTTTCTTTGTGTTGGGAACATTACAATTCTTTTCCTCTAGTTATTTTGAAAGATATATAGGCTGGGCGTGGTGGCTTATGCCTGTAATCCCAGCACCTTGGGAGGCTGAGGCGGGCAGATCACTTGAGGTCAGAAGTTCAAGACTAGCCTGGTCAACATGGTGAAACCCCATCTCTACAAAAATACAAAAATTAGCCAGGTGTGGTGGTGTGCACCTGTAATCCCAGCTGCTCAGCTGGCTGAGGCAGGAGAATCCCTTGACCTCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCAACAGAGCGAGACTCTGTCTCAAAAAATACACACACACACACACACACACACACACACACACACACACACACATATATATACACACATATATATACACACACATATACACACACACACGTCTGTATATATATGTGTGTGTGTATATATACACACACACACTATACTATAAATTCTTGTTTAGCTATGTTTGTCTTACTGTGCTATTGAGCATTAGAGCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTTTGTCGCCCAGGCTGGCATACAATGGCGCAATATCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAACTAGGATTACAAGTGCCCGCCATAATGCTCAGCTAATTTTTGTATTTTCAGTAGAGATGGGGTTTCACCATGTTGGCCAAGCTGGTCTCAAACTCCTAGCCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACAGCACCCTGGTGAGCACTAGAGCTTATTTCTTCTATCTAACTGTATTTTTGTATCCATTAGCCACCCTCTTTTCATCCTCCCCTCTCCTTCCCTTCCCAGCCTCTGGTAACCACTGTCTGCTCTCTACTTCCATGACATATGCTTTGTTTTAGCTCTCACATATGAGTGAGAGCATGCGACATTTATCTTTCTGGCCCTGGCACATTTTTGAATCATTGTTAGAAAAGATGATGGTTTGGAGTAGATACATCAGAAGTGACAGCGTTTGCCCTAAAAAGGAAAGACAGGCTCCTCTGGGACCCTGACCAAGTTCCTGTGAACTATTTTATTATTGTGCTGTGTTAGTCCTGGGGTCTTCCGTTCCCAGCCCTCCTCACCTGCTCCCATATGGCTCTCTCTCTTCTTCCAACCTCTCAGGATGTCCTATGAGGATTTCATCTACCATTTCACAAAGTTGGAGATCTGCAACCTCACGGCCGATGCTCTGCAGTCTGACAAGCTTCAGACCTGGACAGTGTCTGTGAACGAGGGCCGCTGGGTACGGGGTTGCTCTGCCGGAGGCTGCCGCAACTTCCCAGGTGGGAGATGCTCTTGATGGGGGGAGGGTCTAAGCCGAAAAAGTTCCAGGCAGAAGAAGCCTAACTAGTGCTTATTAAGTCTCTCTGTTCCAGACGTCCACTATCTTATTAAACCTTCCCTGTTTTACTGAGAAGGAAACCACCATGCTGAGAAGTTTGCAATAGGGAGCTGGTAGCAACTTTGAAGCAGGAAACTGTGGGAACAATGCAGATGCTGCTTGACTTACGATGAGGTTATGTCCAGATAAGCCCATCCATCTTTGAAAATACCCTAAGTGAAAAGTGCATTCAATATGCCTAACCCACCAAACATCATAGCTTAGCCTGGCCTACCTTAAACATGCTCGGAACACTGACCTTAGCCTAAAGTTGGGCAAAATCATCTAACTCAAAGCCTATTTTACAAGAAAGTGTTGAATATCTCATGTAACTTACTTAATACTGTACTAAAAGTGAAAAACAGAATGGTTGTACGGGTACTCGAAATCCAGTTTCTACTGAATGTGCATCTCTTTCACATTGTAAAGTTAAAAAATTGTAGCCGAACCATCCTAAGTCAGGGACTGTGAGTACTGTGTCAGTAACAGTAAGGGCACTATTGGAGAACCAAGTTAGCAGCTGCTGCAATAGTTCAAGTCAGAGATGATGAAAACCTAGACCAAGTCAGTAGCAGCAGAGATGGAGGGGAGACAGCAGATTTAGGGAGAGCATATTGGGTGATGTAGGGAAGGAAGAAGAATGATGTCAAGATTCCCAGTTGGGGACCTGACAACATTGCAACATAAGACACACAAGAAGATCGGGTGGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCAGAGCCAGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCACAGGCAACATAGTGACACCTCATCGTTACAAAAAATAAAAAAAAAAATGAGGTGGGAGGATTGCTTGAGCTCGGGAGGTTGAGGCTACAATAAACTGTGATCATGCCACTGCACTCCTGCCTGGGTGACAGAGTGAGACCCTGCCTCAAAAAAAAAAGACACACAAGAGAAAAATATCAGCGTGTTGTTTGTTTTTGGTGGAGTTAATTGTGGGGTTCTAGGGAAAGGAATTTAGCTTGGGACATGGAAAGTTTGAGGTTCCTGTAGAGTGTCCCAGTGAAGATTTGTAATAGAGCATCGGATGCGCATATTAGATGGCACTTGGTGATATGATAAGAACTCAAAAAATATTTGAGGAATAAAGGAAAGAAGAGGCCAGACGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCATCATGCGCGTGTAGGGGGCAGTTAAAAAGCAGAAGTAAGAAAGATTGCCTAGGGAGGCAGGAAGGGTGAGGTGAGAGGAGAAGAGGCCCAGGACCAGATTCTAGTCACCAACAGCGTTTAAGGGGCAGGTAAGGAAAACAAAACCATCAGCAAAGACTGAGAATGAAAGCCCAGAGAGGAAGGAAAAGCCACACATACAATCAGTACAGCTCCATCTGAATAAAGGTAGCGCCCCCCCCCCCCCCAAATCATTAGAGAAATGCCTGAATCGTGTTTTCTGTTGATATTTCCTAAGCACCTAGATGTAGGGAATAGAAATAAATGGCTCCCTCTGTCTCATCCCCTTCCTGCCCTCTGAGAGGCAGCTGTGAATGCGTGCTTCCTTTCTGGGGGTGCAGATACTTTCTGGACCAACCCTCAGTACCGTCTGAAGCTCCTGGAGGAG
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CCAGATTGCGCCACTGCACTCCAGCCTGGGCGACAAGAGAGACTCTGTCTTGGAAAAAAAAAAAAAAATGTTGTCTTAGTATAATGTCAAGGGAAAGGTTTTTTGTGTTTTTATTACTTTATTTTTTATTTAAAAACTATAATAGAGACGGGCCTCGCTATATTTCTCGGGCTGGTCTCAAACTCCTGGGCTCAAGCGGTCCTCCCACCTTGGCCTCCCAAAATGCTGGCATGTGGGCCTGGTCAACATATGGGACCCCAACTCTACAAAAAATTTTAAAATTAGCCAGATGTGGTGGCGTGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAAGCAGGGGGTCACTTGAGCCCAGGAGGTTGAGGCTGCAGTGAACTATGATTGTACCACTGCAGTCCATCCTGGGCAACAGAGCAAGACACTGTCTTAAAAAAAAAGTGCTGGGATTACAGATGTAAGCCACCACACCTGGCCTTCTATTTTTTATGGATATATCATAGCTATATATATTTTTGGGGTACATATGTACCCATATTTTGGGGGTACATATGTACCCATATTTTGGGGGTACATATGATATTTTGATACACATATACAATGTGTAATGATCAAATTAGGGTAATTGAGATACCATCATCTCAAATATGTATCTTTTCTTTGTGTTGGGAACATTACAATTCTTTTCCTCTAGTTATTTTGAAAGATATATAGGCTGGGCGTGGTGGCTTATGCCTGTAATCCCAGCACCTTGGGAGGCTGAGGCGGGCAGATCACTTGAGGTCAGAAGTTCAAGACTAGCCTGGTCAACATGGTGAAACCCCATCTCTACAAAAATACAAAAATTAGCCAGGTGTGGTGGTGTGCACCTGTAATCCCAGCTGCTCAGCTGGCTGAGGCAGGAGAATCCCTTGACCTCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCAACAGAGCGAGACTCTGTCTCAAAAAATACACACACACACACACACACACACACACACACACACACACACACATATATATACACACATATATATACACACACATATACACACACACACGTCTGTATATATATGTGTGTGTGTATATATACACACACACACTATACTATAAATTCTTGTTTAGCTATGTTTGTCTTACTGTGCTATTGAGCATTAGAGCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTTTGTCGCCCAGGCTGGCATACAATGGCGCAATATCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAACTAGGATTACAAGTGCCCGCCATAATGCTCAGCTAATTTTTGTATTTTCAGTAGAGATGGGGTTTCACCATGTTGGCCAAGCTGGTCTCAAACTCCTAGCCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACAGCACCCTGGTGAGCACTAGAGCTTATTTCTTCTATCTAACTGTATTTTTGTATCCATTAGCCACCCTCTTTTCATCCTCCCCTCTCCTTCCCTTCCCAGCCTCTGGTAACCACTGTCTGCTCTCTACTTCCATGACATATGCTTTGTTTTAGCTCTCACATATGAGTGAGAGCATGCGACATTTATCTTTCTGGCCCTGGCACATTTTTGAATCATTGTTAGAAAAGATGATGGTTTGGAGTAGATACATCAGAAGTGACAGCGTTTGCCCTAAAAAGGAAAGACAGGCTCCTCTGGGACCCTGACCAAGTTCCTGTGAACTATTTTATTATTGTGCTGTGTTAGTCCTGGGGTCTTCCGTTCCCAGCCCTCCTCACCTGCTCCCATATGGCTCTCTCTCTTCTTCCAACCTCTCAGGATGTCCTATGAGGATTTCATCTACCATTTCACAAAGTTGGAGATCTGCAACCTCACGGCCGATGCTCTGCAGTCTGACAAGCTTCAGACCTGGACAGTGTCTGTGAACGAGGGCCGCTGGGTACGGGGTTGCTCTGCCGGAGGCTGCTGCAACTTCCCAGGTGGGAGATGCTCTTGATGGGGGGAGGGTCTAAGCCGAAAAAGTTCCAGGCAGAAGAAGCCTAACTAGTGCTTATTAAGTCTCTCTGTTCCAGACGTCCACTATCTTATTAAACCTTCCCTGTTTTACTGAGAAGGAAACCACCATGCTGAGAAGTTTGCAATAGGGAGCTGGTAGCAACTTTGAAGCAGGAAACTGTGGGAACAATGCAGATGCTGCTTGACTTACGATGAGGTTATGTCCAGATAAGCCCATCCATCTTTGAAAATACCCTAAGTGAAAAGTGCATTCAATATGCCTAACCCACCAAACATCATAGCTTAGCCTGGCCTACCTTAAACATGCTCGGAACACTGACCTTAGCCTAAAGTTGGGCAAAATCATCTAACTCAAAGCCTATTTTACAAGAAAGTGTTGAATATCTCATGTAACTTACTTAATACTGTACTAAAAGTGAAAAACAGAATGGTTGTACGGGTACTCGAAATCCAGTTTCTACTGAATGTGCATCTCTTTCACATTGTAAAGTTAAAAAATTGTAGCCGAACCATCCTAAGTCAGGGACTGTGAGTACTGTGTCAGTAACAGTAAGGGCACTATTGGAGAACCAAGTTAGCAGCTGCTGCAATAGTTCAAGTCAGAGATGATGAAAACCTAGACCAAGTCAGTAGCAGCAGAGATGGAGGGGAGACAGCAGATTTAGGGAGAGCATATTGGGTGATGTAGGGAAGGAAGAAGAATGATGTCAAGATTCCCAGTTGGGGACCTGACAACATTGCAACATAAGACACACAAGAAGATCGGGTGGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCAGAGCCAGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCACAGGCAACATAGTGACACCTCATCGTTACAAAAAATAAAAAAAAAAATGAGGTGGGAGGATTGCTTGAGCTCGGGAGGTTGAGGCTACAATAAACTGTGATCATGCCACTGCACTCCTGCCTGGGTGACAGAGTGAGACCCTGCCTCAAAAAAAAAAGACACACAAGAGAAAAATATCAGCGTGTTGTTTGTTTTTGGTGGAGTTAATTGTGGGGTTCTAGGGAAAGGAATTTAGCTTGGGACATGGAAAGTTTGAGGTTCCTGTAGAGTGTCCCAGTGAAGATTTGTAATAGAGCATCGGATGCGCATATTAGATGGCACTTGGTGATATGATAAGAACTCAAAAAATATTTGAGGAATAAAGGAAAGAAGAGGCCAGACGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCATCATGCGCGTGTAGGGGGCAGTTAAAAAGCAGAAGTAAGAAAGATTGCCTAGGGAGGCAGGAAGGGTGAGGTGAGAGGAGAAGAGGCCCAGGACCAGATTCTAGTCACCAACAGCGTTTAAGGGGCAGGTAAGGAAAACAAAACCATCAGCAAAGACTGAGAATGAAAGCCCAGAGAGGAAGGAAAAGCCACACATACAATCAGTACAGCTCCATCTGAATAAAGGTAGCGCCCCCCCCCCCCCCAAATCATTAGAGAAATGCCTGAATCGTGTTTTCTGTTGATATTTCCTAAGCACCTAGATGTAGGGAATAGAAATAAATGGCTCCCTCTGTCTCATCCCCTTCCTGCCCTCTGAGAGGCAGCTGTGAATGCGTGCTTCCTTTCTGGGGGTGCAGATACTTTCTGGACCAACCCTCAGTACCGTCTGAAGCTCCTGGAGGAG
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Task1_train_20564
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A genetic alteration is present in CAPN3 (calpain 3) on Chromosome 15. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2A
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CCAGATTGCGCCACTGCACTCCAGCCTGGGCGACAAGAGAGACTCTGTCTTGGAAAAAAAAAAAAAAATGTTGTCTTAGTATAATGTCAAGGGAAAGGTTTTTTGTGTTTTTATTACTTTATTTTTTATTTAAAAACTATAATAGAGACGGGCCTCGCTATATTTCTCGGGCTGGTCTCAAACTCCTGGGCTCAAGCGGTCCTCCCACCTTGGCCTCCCAAAATGCTGGCATGTGGGCCTGGTCAACATATGGGACCCCAACTCTACAAAAAATTTTAAAATTAGCCAGATGTGGTGGCGTGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAAGCAGGGGGTCACTTGAGCCCAGGAGGTTGAGGCTGCAGTGAACTATGATTGTACCACTGCAGTCCATCCTGGGCAACAGAGCAAGACACTGTCTTAAAAAAAAAGTGCTGGGATTACAGATGTAAGCCACCACACCTGGCCTTCTATTTTTTATGGATATATCATAGCTATATATATTTTTGGGGTACATATGTACCCATATTTTGGGGGTACATATGTACCCATATTTTGGGGGTACATATGATATTTTGATACACATATACAATGTGTAATGATCAAATTAGGGTAATTGAGATACCATCATCTCAAATATGTATCTTTTCTTTGTGTTGGGAACATTACAATTCTTTTCCTCTAGTTATTTTGAAAGATATATAGGCTGGGCGTGGTGGCTTATGCCTGTAATCCCAGCACCTTGGGAGGCTGAGGCGGGCAGATCACTTGAGGTCAGAAGTTCAAGACTAGCCTGGTCAACATGGTGAAACCCCATCTCTACAAAAATACAAAAATTAGCCAGGTGTGGTGGTGTGCACCTGTAATCCCAGCTGCTCAGCTGGCTGAGGCAGGAGAATCCCTTGACCTCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCAACAGAGCGAGACTCTGTCTCAAAAAATACACACACACACACACACACACACACACACACACACACACACACATATATATACACACATATATATACACACACATATACACACACACACGTCTGTATATATATGTGTGTGTGTATATATACACACACACACTATACTATAAATTCTTGTTTAGCTATGTTTGTCTTACTGTGCTATTGAGCATTAGAGCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTTTGTCGCCCAGGCTGGCATACAATGGCGCAATATCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAACTAGGATTACAAGTGCCCGCCATAATGCTCAGCTAATTTTTGTATTTTCAGTAGAGATGGGGTTTCACCATGTTGGCCAAGCTGGTCTCAAACTCCTAGCCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACAGCACCCTGGTGAGCACTAGAGCTTATTTCTTCTATCTAACTGTATTTTTGTATCCATTAGCCACCCTCTTTTCATCCTCCCCTCTCCTTCCCTTCCCAGCCTCTGGTAACCACTGTCTGCTCTCTACTTCCATGACATATGCTTTGTTTTAGCTCTCACATATGAGTGAGAGCATGCGACATTTATCTTTCTGGCCCTGGCACATTTTTGAATCATTGTTAGAAAAGATGATGGTTTGGAGTAGATACATCAGAAGTGACAGCGTTTGCCCTAAAAAGGAAAGACAGGCTCCTCTGGGACCCTGACCAAGTTCCTGTGAACTATTTTATTATTGTGCTGTGTTAGTCCTGGGGTCTTCCGTTCCCAGCCCTCCTCACCTGCTCCCATATGGCTCTCTCTCTTCTTCCAACCTCTCAGGATGTCCTATGAGGATTTCATCTACCATTTCACAAAGTTGGAGATCTGCAACCTCACGGCCGATGCTCTGCAGTCTGACAAGCTTCAGACCTGGACAGTGTCTGTGAACGAGGGCCGCTGGGTACGGGGTTGCTCTGCCGGAGGCTGCCGCAACTTCCCAGGTGGGAGATGCTCTTGATGGGGGGAGGGTCTAAGCCGAAAAAGTTCCAGGCAGAAGAAGCCTAACTAGTGCTTATTAAGTCTCTCTGTTCCAGACGTCCACTATCTTATTAAACCTTCCCTGTTTTACTGAGAAGGAAACCACCATGCTGAGAAGTTTGCAATAGGGAGCTGGTAGCAACTTTGAAGCAGGAAACTGTGGGAACAATGCAGATGCTGCTTGACTTACGATGAGGTTATGTCCAGATAAGCCCATCCATCTTTGAAAATACCCTAAGTGAAAAGTGCATTCAATATGCCTAACCCACCAAACATCATAGCTTAGCCTGGCCTACCTTAAACATGCTCGGAACACTGACCTTAGCCTAAAGTTGGGCAAAATCATCTAACTCAAAGCCTATTTTACAAGAAAGTGTTGAATATCTCATGTAACTTACTTAATACTGTACTAAAAGTGAAAAACAGAATGGTTGTACGGGTACTCGAAATCCAGTTTCTACTGAATGTGCATCTCTTTCACATTGTAAAGTTAAAAAATTGTAGCCGAACCATCCTAAGTCAGGGACTGTGAGTACTGTGTCAGTAACAGTAAGGGCACTATTGGAGAACCAAGTTAGCAGCTGCTGCAATAGTTCAAGTCAGAGATGATGAAAACCTAGACCAAGTCAGTAGCAGCAGAGATGGAGGGGAGACAGCAGATTTAGGGAGAGCATATTGGGTGATGTAGGGAAGGAAGAAGAATGATGTCAAGATTCCCAGTTGGGGACCTGACAACATTGCAACATAAGACACACAAGAAGATCGGGTGGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCAGAGCCAGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCACAGGCAACATAGTGACACCTCATCGTTACAAAAAATAAAAAAAAAAATGAGGTGGGAGGATTGCTTGAGCTCGGGAGGTTGAGGCTACAATAAACTGTGATCATGCCACTGCACTCCTGCCTGGGTGACAGAGTGAGACCCTGCCTCAAAAAAAAAAGACACACAAGAGAAAAATATCAGCGTGTTGTTTGTTTTTGGTGGAGTTAATTGTGGGGTTCTAGGGAAAGGAATTTAGCTTGGGACATGGAAAGTTTGAGGTTCCTGTAGAGTGTCCCAGTGAAGATTTGTAATAGAGCATCGGATGCGCATATTAGATGGCACTTGGTGATATGATAAGAACTCAAAAAATATTTGAGGAATAAAGGAAAGAAGAGGCCAGACGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCATCATGCGCGTGTAGGGGGCAGTTAAAAAGCAGAAGTAAGAAAGATTGCCTAGGGAGGCAGGAAGGGTGAGGTGAGAGGAGAAGAGGCCCAGGACCAGATTCTAGTCACCAACAGCGTTTAAGGGGCAGGTAAGGAAAACAAAACCATCAGCAAAGACTGAGAATGAAAGCCCAGAGAGGAAGGAAAAGCCACACATACAATCAGTACAGCTCCATCTGAATAAAGGTAGCGCCCCCCCCCCCCCCAAATCATTAGAGAAATGCCTGAATCGTGTTTTCTGTTGATATTTCCTAAGCACCTAGATGTAGGGAATAGAAATAAATGGCTCCCTCTGTCTCATCCCCTTCCTGCCCTCTGAGAGGCAGCTGTGAATGCGTGCTTCCTTTCTGGGGGTGCAGATACTTTCTGGACCAACCCTCAGTACCGTCTGAAGCTCCTGGAGGAG
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CCAGATTGCGCCACTGCACTCCAGCCTGGGCGACAAGAGAGACTCTGTCTTGGAAAAAAAAAAAAAAATGTTGTCTTAGTATAATGTCAAGGGAAAGGTTTTTTGTGTTTTTATTACTTTATTTTTTATTTAAAAACTATAATAGAGACGGGCCTCGCTATATTTCTCGGGCTGGTCTCAAACTCCTGGGCTCAAGCGGTCCTCCCACCTTGGCCTCCCAAAATGCTGGCATGTGGGCCTGGTCAACATATGGGACCCCAACTCTACAAAAAATTTTAAAATTAGCCAGATGTGGTGGCGTGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAAGCAGGGGGTCACTTGAGCCCAGGAGGTTGAGGCTGCAGTGAACTATGATTGTACCACTGCAGTCCATCCTGGGCAACAGAGCAAGACACTGTCTTAAAAAAAAAGTGCTGGGATTACAGATGTAAGCCACCACACCTGGCCTTCTATTTTTTATGGATATATCATAGCTATATATATTTTTGGGGTACATATGTACCCATATTTTGGGGGTACATATGTACCCATATTTTGGGGGTACATATGATATTTTGATACACATATACAATGTGTAATGATCAAATTAGGGTAATTGAGATACCATCATCTCAAATATGTATCTTTTCTTTGTGTTGGGAACATTACAATTCTTTTCCTCTAGTTATTTTGAAAGATATATAGGCTGGGCGTGGTGGCTTATGCCTGTAATCCCAGCACCTTGGGAGGCTGAGGCGGGCAGATCACTTGAGGTCAGAAGTTCAAGACTAGCCTGGTCAACATGGTGAAACCCCATCTCTACAAAAATACAAAAATTAGCCAGGTGTGGTGGTGTGCACCTGTAATCCCAGCTGCTCAGCTGGCTGAGGCAGGAGAATCCCTTGACCTCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCAACAGAGCGAGACTCTGTCTCAAAAAATACACACACACACACACACACACACACACACACACACACACACACATATATATACACACATATATATACACACACATATACACACACACACGTCTGTATATATATGTGTGTGTGTATATATACACACACACACTATACTATAAATTCTTGTTTAGCTATGTTTGTCTTACTGTGCTATTGAGCATTAGAGCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTTTGTCGCCCAGGCTGGCATACAATGGCGCAATATCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAACTAGGATTACAAGTGCCCGCCATAATGCTCAGCTAATTTTTGTATTTTCAGTAGAGATGGGGTTTCACCATGTTGGCCAAGCTGGTCTCAAACTCCTAGCCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACAGCACCCTGGTGAGCACTAGAGCTTATTTCTTCTATCTAACTGTATTTTTGTATCCATTAGCCACCCTCTTTTCATCCTCCCCTCTCCTTCCCTTCCCAGCCTCTGGTAACCACTGTCTGCTCTCTACTTCCATGACATATGCTTTGTTTTAGCTCTCACATATGAGTGAGAGCATGCGACATTTATCTTTCTGGCCCTGGCACATTTTTGAATCATTGTTAGAAAAGATGATGGTTTGGAGTAGATACATCAGAAGTGACAGCGTTTGCCCTAAAAAGGAAAGACAGGCTCCTCTGGGACCCTGACCAAGTTCCTGTGAACTATTTTATTATTGTGCTGTGTTAGTCCTGGGGTCTTCCGTTCCCAGCCCTCCTCACCTGCTCCCATATGGCTCTCTCTCTTCTTCCAACCTCTCAGGATGTCCTATGAGGATTTCATCTACCATTTCACAAAGTTGGAGATCTGCAACCTCACGGCCGATGCTCTGCAGTCTGACAAGCTTCAGACCTGGACAGTGTCTGTGAACGAGGGCCGCTGGGTACGGGGTTGCTCTGCCGGAGGCTGCTGCAACTTCCCAGGTGGGAGATGCTCTTGATGGGGGGAGGGTCTAAGCCGAAAAAGTTCCAGGCAGAAGAAGCCTAACTAGTGCTTATTAAGTCTCTCTGTTCCAGACGTCCACTATCTTATTAAACCTTCCCTGTTTTACTGAGAAGGAAACCACCATGCTGAGAAGTTTGCAATAGGGAGCTGGTAGCAACTTTGAAGCAGGAAACTGTGGGAACAATGCAGATGCTGCTTGACTTACGATGAGGTTATGTCCAGATAAGCCCATCCATCTTTGAAAATACCCTAAGTGAAAAGTGCATTCAATATGCCTAACCCACCAAACATCATAGCTTAGCCTGGCCTACCTTAAACATGCTCGGAACACTGACCTTAGCCTAAAGTTGGGCAAAATCATCTAACTCAAAGCCTATTTTACAAGAAAGTGTTGAATATCTCATGTAACTTACTTAATACTGTACTAAAAGTGAAAAACAGAATGGTTGTACGGGTACTCGAAATCCAGTTTCTACTGAATGTGCATCTCTTTCACATTGTAAAGTTAAAAAATTGTAGCCGAACCATCCTAAGTCAGGGACTGTGAGTACTGTGTCAGTAACAGTAAGGGCACTATTGGAGAACCAAGTTAGCAGCTGCTGCAATAGTTCAAGTCAGAGATGATGAAAACCTAGACCAAGTCAGTAGCAGCAGAGATGGAGGGGAGACAGCAGATTTAGGGAGAGCATATTGGGTGATGTAGGGAAGGAAGAAGAATGATGTCAAGATTCCCAGTTGGGGACCTGACAACATTGCAACATAAGACACACAAGAAGATCGGGTGGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCAGAGCCAGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCACAGGCAACATAGTGACACCTCATCGTTACAAAAAATAAAAAAAAAAATGAGGTGGGAGGATTGCTTGAGCTCGGGAGGTTGAGGCTACAATAAACTGTGATCATGCCACTGCACTCCTGCCTGGGTGACAGAGTGAGACCCTGCCTCAAAAAAAAAAGACACACAAGAGAAAAATATCAGCGTGTTGTTTGTTTTTGGTGGAGTTAATTGTGGGGTTCTAGGGAAAGGAATTTAGCTTGGGACATGGAAAGTTTGAGGTTCCTGTAGAGTGTCCCAGTGAAGATTTGTAATAGAGCATCGGATGCGCATATTAGATGGCACTTGGTGATATGATAAGAACTCAAAAAATATTTGAGGAATAAAGGAAAGAAGAGGCCAGACGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCATCATGCGCGTGTAGGGGGCAGTTAAAAAGCAGAAGTAAGAAAGATTGCCTAGGGAGGCAGGAAGGGTGAGGTGAGAGGAGAAGAGGCCCAGGACCAGATTCTAGTCACCAACAGCGTTTAAGGGGCAGGTAAGGAAAACAAAACCATCAGCAAAGACTGAGAATGAAAGCCCAGAGAGGAAGGAAAAGCCACACATACAATCAGTACAGCTCCATCTGAATAAAGGTAGCGCCCCCCCCCCCCCCAAATCATTAGAGAAATGCCTGAATCGTGTTTTCTGTTGATATTTCCTAAGCACCTAGATGTAGGGAATAGAAATAAATGGCTCCCTCTGTCTCATCCCCTTCCTGCCCTCTGAGAGGCAGCTGTGAATGCGTGCTTCCTTTCTGGGGGTGCAGATACTTTCTGGACCAACCCTCAGTACCGTCTGAAGCTCCTGGAGGAG
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Task1_train_20565
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This alteration occurs within gene CAPN3 (calpain 3) located on Chromosome 15. Is it associated with a disease or is it a benign variant?
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Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2A
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CAGATTGCGCCACTGCACTCCAGCCTGGGCGACAAGAGAGACTCTGTCTTGGAAAAAAAAAAAAAAATGTTGTCTTAGTATAATGTCAAGGGAAAGGTTTTTTGTGTTTTTATTACTTTATTTTTTATTTAAAAACTATAATAGAGACGGGCCTCGCTATATTTCTCGGGCTGGTCTCAAACTCCTGGGCTCAAGCGGTCCTCCCACCTTGGCCTCCCAAAATGCTGGCATGTGGGCCTGGTCAACATATGGGACCCCAACTCTACAAAAAATTTTAAAATTAGCCAGATGTGGTGGCGTGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAAGCAGGGGGTCACTTGAGCCCAGGAGGTTGAGGCTGCAGTGAACTATGATTGTACCACTGCAGTCCATCCTGGGCAACAGAGCAAGACACTGTCTTAAAAAAAAAGTGCTGGGATTACAGATGTAAGCCACCACACCTGGCCTTCTATTTTTTATGGATATATCATAGCTATATATATTTTTGGGGTACATATGTACCCATATTTTGGGGGTACATATGTACCCATATTTTGGGGGTACATATGATATTTTGATACACATATACAATGTGTAATGATCAAATTAGGGTAATTGAGATACCATCATCTCAAATATGTATCTTTTCTTTGTGTTGGGAACATTACAATTCTTTTCCTCTAGTTATTTTGAAAGATATATAGGCTGGGCGTGGTGGCTTATGCCTGTAATCCCAGCACCTTGGGAGGCTGAGGCGGGCAGATCACTTGAGGTCAGAAGTTCAAGACTAGCCTGGTCAACATGGTGAAACCCCATCTCTACAAAAATACAAAAATTAGCCAGGTGTGGTGGTGTGCACCTGTAATCCCAGCTGCTCAGCTGGCTGAGGCAGGAGAATCCCTTGACCTCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCAACAGAGCGAGACTCTGTCTCAAAAAATACACACACACACACACACACACACACACACACACACACACACACATATATATACACACATATATATACACACACATATACACACACACACGTCTGTATATATATGTGTGTGTGTATATATACACACACACACTATACTATAAATTCTTGTTTAGCTATGTTTGTCTTACTGTGCTATTGAGCATTAGAGCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTTTGTCGCCCAGGCTGGCATACAATGGCGCAATATCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAACTAGGATTACAAGTGCCCGCCATAATGCTCAGCTAATTTTTGTATTTTCAGTAGAGATGGGGTTTCACCATGTTGGCCAAGCTGGTCTCAAACTCCTAGCCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACAGCACCCTGGTGAGCACTAGAGCTTATTTCTTCTATCTAACTGTATTTTTGTATCCATTAGCCACCCTCTTTTCATCCTCCCCTCTCCTTCCCTTCCCAGCCTCTGGTAACCACTGTCTGCTCTCTACTTCCATGACATATGCTTTGTTTTAGCTCTCACATATGAGTGAGAGCATGCGACATTTATCTTTCTGGCCCTGGCACATTTTTGAATCATTGTTAGAAAAGATGATGGTTTGGAGTAGATACATCAGAAGTGACAGCGTTTGCCCTAAAAAGGAAAGACAGGCTCCTCTGGGACCCTGACCAAGTTCCTGTGAACTATTTTATTATTGTGCTGTGTTAGTCCTGGGGTCTTCCGTTCCCAGCCCTCCTCACCTGCTCCCATATGGCTCTCTCTCTTCTTCCAACCTCTCAGGATGTCCTATGAGGATTTCATCTACCATTTCACAAAGTTGGAGATCTGCAACCTCACGGCCGATGCTCTGCAGTCTGACAAGCTTCAGACCTGGACAGTGTCTGTGAACGAGGGCCGCTGGGTACGGGGTTGCTCTGCCGGAGGCTGCCGCAACTTCCCAGGTGGGAGATGCTCTTGATGGGGGGAGGGTCTAAGCCGAAAAAGTTCCAGGCAGAAGAAGCCTAACTAGTGCTTATTAAGTCTCTCTGTTCCAGACGTCCACTATCTTATTAAACCTTCCCTGTTTTACTGAGAAGGAAACCACCATGCTGAGAAGTTTGCAATAGGGAGCTGGTAGCAACTTTGAAGCAGGAAACTGTGGGAACAATGCAGATGCTGCTTGACTTACGATGAGGTTATGTCCAGATAAGCCCATCCATCTTTGAAAATACCCTAAGTGAAAAGTGCATTCAATATGCCTAACCCACCAAACATCATAGCTTAGCCTGGCCTACCTTAAACATGCTCGGAACACTGACCTTAGCCTAAAGTTGGGCAAAATCATCTAACTCAAAGCCTATTTTACAAGAAAGTGTTGAATATCTCATGTAACTTACTTAATACTGTACTAAAAGTGAAAAACAGAATGGTTGTACGGGTACTCGAAATCCAGTTTCTACTGAATGTGCATCTCTTTCACATTGTAAAGTTAAAAAATTGTAGCCGAACCATCCTAAGTCAGGGACTGTGAGTACTGTGTCAGTAACAGTAAGGGCACTATTGGAGAACCAAGTTAGCAGCTGCTGCAATAGTTCAAGTCAGAGATGATGAAAACCTAGACCAAGTCAGTAGCAGCAGAGATGGAGGGGAGACAGCAGATTTAGGGAGAGCATATTGGGTGATGTAGGGAAGGAAGAAGAATGATGTCAAGATTCCCAGTTGGGGACCTGACAACATTGCAACATAAGACACACAAGAAGATCGGGTGGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCAGAGCCAGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCACAGGCAACATAGTGACACCTCATCGTTACAAAAAATAAAAAAAAAAATGAGGTGGGAGGATTGCTTGAGCTCGGGAGGTTGAGGCTACAATAAACTGTGATCATGCCACTGCACTCCTGCCTGGGTGACAGAGTGAGACCCTGCCTCAAAAAAAAAAGACACACAAGAGAAAAATATCAGCGTGTTGTTTGTTTTTGGTGGAGTTAATTGTGGGGTTCTAGGGAAAGGAATTTAGCTTGGGACATGGAAAGTTTGAGGTTCCTGTAGAGTGTCCCAGTGAAGATTTGTAATAGAGCATCGGATGCGCATATTAGATGGCACTTGGTGATATGATAAGAACTCAAAAAATATTTGAGGAATAAAGGAAAGAAGAGGCCAGACGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCATCATGCGCGTGTAGGGGGCAGTTAAAAAGCAGAAGTAAGAAAGATTGCCTAGGGAGGCAGGAAGGGTGAGGTGAGAGGAGAAGAGGCCCAGGACCAGATTCTAGTCACCAACAGCGTTTAAGGGGCAGGTAAGGAAAACAAAACCATCAGCAAAGACTGAGAATGAAAGCCCAGAGAGGAAGGAAAAGCCACACATACAATCAGTACAGCTCCATCTGAATAAAGGTAGCGCCCCCCCCCCCCCCAAATCATTAGAGAAATGCCTGAATCGTGTTTTCTGTTGATATTTCCTAAGCACCTAGATGTAGGGAATAGAAATAAATGGCTCCCTCTGTCTCATCCCCTTCCTGCCCTCTGAGAGGCAGCTGTGAATGCGTGCTTCCTTTCTGGGGGTGCAGATACTTTCTGGACCAACCCTCAGTACCGTCTGAAGCTCCTGGAGGAGG
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CAGATTGCGCCACTGCACTCCAGCCTGGGCGACAAGAGAGACTCTGTCTTGGAAAAAAAAAAAAAAATGTTGTCTTAGTATAATGTCAAGGGAAAGGTTTTTTGTGTTTTTATTACTTTATTTTTTATTTAAAAACTATAATAGAGACGGGCCTCGCTATATTTCTCGGGCTGGTCTCAAACTCCTGGGCTCAAGCGGTCCTCCCACCTTGGCCTCCCAAAATGCTGGCATGTGGGCCTGGTCAACATATGGGACCCCAACTCTACAAAAAATTTTAAAATTAGCCAGATGTGGTGGCGTGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAAGCAGGGGGTCACTTGAGCCCAGGAGGTTGAGGCTGCAGTGAACTATGATTGTACCACTGCAGTCCATCCTGGGCAACAGAGCAAGACACTGTCTTAAAAAAAAAGTGCTGGGATTACAGATGTAAGCCACCACACCTGGCCTTCTATTTTTTATGGATATATCATAGCTATATATATTTTTGGGGTACATATGTACCCATATTTTGGGGGTACATATGTACCCATATTTTGGGGGTACATATGATATTTTGATACACATATACAATGTGTAATGATCAAATTAGGGTAATTGAGATACCATCATCTCAAATATGTATCTTTTCTTTGTGTTGGGAACATTACAATTCTTTTCCTCTAGTTATTTTGAAAGATATATAGGCTGGGCGTGGTGGCTTATGCCTGTAATCCCAGCACCTTGGGAGGCTGAGGCGGGCAGATCACTTGAGGTCAGAAGTTCAAGACTAGCCTGGTCAACATGGTGAAACCCCATCTCTACAAAAATACAAAAATTAGCCAGGTGTGGTGGTGTGCACCTGTAATCCCAGCTGCTCAGCTGGCTGAGGCAGGAGAATCCCTTGACCTCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCAACAGAGCGAGACTCTGTCTCAAAAAATACACACACACACACACACACACACACACACACACACACACACACATATATATACACACATATATATACACACACATATACACACACACACGTCTGTATATATATGTGTGTGTGTATATATACACACACACACTATACTATAAATTCTTGTTTAGCTATGTTTGTCTTACTGTGCTATTGAGCATTAGAGCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTTTGTCGCCCAGGCTGGCATACAATGGCGCAATATCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAACTAGGATTACAAGTGCCCGCCATAATGCTCAGCTAATTTTTGTATTTTCAGTAGAGATGGGGTTTCACCATGTTGGCCAAGCTGGTCTCAAACTCCTAGCCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACAGCACCCTGGTGAGCACTAGAGCTTATTTCTTCTATCTAACTGTATTTTTGTATCCATTAGCCACCCTCTTTTCATCCTCCCCTCTCCTTCCCTTCCCAGCCTCTGGTAACCACTGTCTGCTCTCTACTTCCATGACATATGCTTTGTTTTAGCTCTCACATATGAGTGAGAGCATGCGACATTTATCTTTCTGGCCCTGGCACATTTTTGAATCATTGTTAGAAAAGATGATGGTTTGGAGTAGATACATCAGAAGTGACAGCGTTTGCCCTAAAAAGGAAAGACAGGCTCCTCTGGGACCCTGACCAAGTTCCTGTGAACTATTTTATTATTGTGCTGTGTTAGTCCTGGGGTCTTCCGTTCCCAGCCCTCCTCACCTGCTCCCATATGGCTCTCTCTCTTCTTCCAACCTCTCAGGATGTCCTATGAGGATTTCATCTACCATTTCACAAAGTTGGAGATCTGCAACCTCACGGCCGATGCTCTGCAGTCTGACAAGCTTCAGACCTGGACAGTGTCTGTGAACGAGGGCCGCTGGGTACGGGGTTGCTCTGCCGGAGGCTGCCACAACTTCCCAGGTGGGAGATGCTCTTGATGGGGGGAGGGTCTAAGCCGAAAAAGTTCCAGGCAGAAGAAGCCTAACTAGTGCTTATTAAGTCTCTCTGTTCCAGACGTCCACTATCTTATTAAACCTTCCCTGTTTTACTGAGAAGGAAACCACCATGCTGAGAAGTTTGCAATAGGGAGCTGGTAGCAACTTTGAAGCAGGAAACTGTGGGAACAATGCAGATGCTGCTTGACTTACGATGAGGTTATGTCCAGATAAGCCCATCCATCTTTGAAAATACCCTAAGTGAAAAGTGCATTCAATATGCCTAACCCACCAAACATCATAGCTTAGCCTGGCCTACCTTAAACATGCTCGGAACACTGACCTTAGCCTAAAGTTGGGCAAAATCATCTAACTCAAAGCCTATTTTACAAGAAAGTGTTGAATATCTCATGTAACTTACTTAATACTGTACTAAAAGTGAAAAACAGAATGGTTGTACGGGTACTCGAAATCCAGTTTCTACTGAATGTGCATCTCTTTCACATTGTAAAGTTAAAAAATTGTAGCCGAACCATCCTAAGTCAGGGACTGTGAGTACTGTGTCAGTAACAGTAAGGGCACTATTGGAGAACCAAGTTAGCAGCTGCTGCAATAGTTCAAGTCAGAGATGATGAAAACCTAGACCAAGTCAGTAGCAGCAGAGATGGAGGGGAGACAGCAGATTTAGGGAGAGCATATTGGGTGATGTAGGGAAGGAAGAAGAATGATGTCAAGATTCCCAGTTGGGGACCTGACAACATTGCAACATAAGACACACAAGAAGATCGGGTGGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCAGAGCCAGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCACAGGCAACATAGTGACACCTCATCGTTACAAAAAATAAAAAAAAAAATGAGGTGGGAGGATTGCTTGAGCTCGGGAGGTTGAGGCTACAATAAACTGTGATCATGCCACTGCACTCCTGCCTGGGTGACAGAGTGAGACCCTGCCTCAAAAAAAAAAGACACACAAGAGAAAAATATCAGCGTGTTGTTTGTTTTTGGTGGAGTTAATTGTGGGGTTCTAGGGAAAGGAATTTAGCTTGGGACATGGAAAGTTTGAGGTTCCTGTAGAGTGTCCCAGTGAAGATTTGTAATAGAGCATCGGATGCGCATATTAGATGGCACTTGGTGATATGATAAGAACTCAAAAAATATTTGAGGAATAAAGGAAAGAAGAGGCCAGACGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCATCATGCGCGTGTAGGGGGCAGTTAAAAAGCAGAAGTAAGAAAGATTGCCTAGGGAGGCAGGAAGGGTGAGGTGAGAGGAGAAGAGGCCCAGGACCAGATTCTAGTCACCAACAGCGTTTAAGGGGCAGGTAAGGAAAACAAAACCATCAGCAAAGACTGAGAATGAAAGCCCAGAGAGGAAGGAAAAGCCACACATACAATCAGTACAGCTCCATCTGAATAAAGGTAGCGCCCCCCCCCCCCCCAAATCATTAGAGAAATGCCTGAATCGTGTTTTCTGTTGATATTTCCTAAGCACCTAGATGTAGGGAATAGAAATAAATGGCTCCCTCTGTCTCATCCCCTTCCTGCCCTCTGAGAGGCAGCTGTGAATGCGTGCTTCCTTTCTGGGGGTGCAGATACTTTCTGGACCAACCCTCAGTACCGTCTGAAGCTCCTGGAGGAGG
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Task1_train_20566
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Given a variant located on Chromosome 15 and affecting CAPN3 (calpain 3), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2A
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CAGATTGCGCCACTGCACTCCAGCCTGGGCGACAAGAGAGACTCTGTCTTGGAAAAAAAAAAAAAAATGTTGTCTTAGTATAATGTCAAGGGAAAGGTTTTTTGTGTTTTTATTACTTTATTTTTTATTTAAAAACTATAATAGAGACGGGCCTCGCTATATTTCTCGGGCTGGTCTCAAACTCCTGGGCTCAAGCGGTCCTCCCACCTTGGCCTCCCAAAATGCTGGCATGTGGGCCTGGTCAACATATGGGACCCCAACTCTACAAAAAATTTTAAAATTAGCCAGATGTGGTGGCGTGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAAGCAGGGGGTCACTTGAGCCCAGGAGGTTGAGGCTGCAGTGAACTATGATTGTACCACTGCAGTCCATCCTGGGCAACAGAGCAAGACACTGTCTTAAAAAAAAAGTGCTGGGATTACAGATGTAAGCCACCACACCTGGCCTTCTATTTTTTATGGATATATCATAGCTATATATATTTTTGGGGTACATATGTACCCATATTTTGGGGGTACATATGTACCCATATTTTGGGGGTACATATGATATTTTGATACACATATACAATGTGTAATGATCAAATTAGGGTAATTGAGATACCATCATCTCAAATATGTATCTTTTCTTTGTGTTGGGAACATTACAATTCTTTTCCTCTAGTTATTTTGAAAGATATATAGGCTGGGCGTGGTGGCTTATGCCTGTAATCCCAGCACCTTGGGAGGCTGAGGCGGGCAGATCACTTGAGGTCAGAAGTTCAAGACTAGCCTGGTCAACATGGTGAAACCCCATCTCTACAAAAATACAAAAATTAGCCAGGTGTGGTGGTGTGCACCTGTAATCCCAGCTGCTCAGCTGGCTGAGGCAGGAGAATCCCTTGACCTCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCAACAGAGCGAGACTCTGTCTCAAAAAATACACACACACACACACACACACACACACACACACACACACACACATATATATACACACATATATATACACACACATATACACACACACACGTCTGTATATATATGTGTGTGTGTATATATACACACACACACTATACTATAAATTCTTGTTTAGCTATGTTTGTCTTACTGTGCTATTGAGCATTAGAGCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTTTGTCGCCCAGGCTGGCATACAATGGCGCAATATCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAACTAGGATTACAAGTGCCCGCCATAATGCTCAGCTAATTTTTGTATTTTCAGTAGAGATGGGGTTTCACCATGTTGGCCAAGCTGGTCTCAAACTCCTAGCCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACAGCACCCTGGTGAGCACTAGAGCTTATTTCTTCTATCTAACTGTATTTTTGTATCCATTAGCCACCCTCTTTTCATCCTCCCCTCTCCTTCCCTTCCCAGCCTCTGGTAACCACTGTCTGCTCTCTACTTCCATGACATATGCTTTGTTTTAGCTCTCACATATGAGTGAGAGCATGCGACATTTATCTTTCTGGCCCTGGCACATTTTTGAATCATTGTTAGAAAAGATGATGGTTTGGAGTAGATACATCAGAAGTGACAGCGTTTGCCCTAAAAAGGAAAGACAGGCTCCTCTGGGACCCTGACCAAGTTCCTGTGAACTATTTTATTATTGTGCTGTGTTAGTCCTGGGGTCTTCCGTTCCCAGCCCTCCTCACCTGCTCCCATATGGCTCTCTCTCTTCTTCCAACCTCTCAGGATGTCCTATGAGGATTTCATCTACCATTTCACAAAGTTGGAGATCTGCAACCTCACGGCCGATGCTCTGCAGTCTGACAAGCTTCAGACCTGGACAGTGTCTGTGAACGAGGGCCGCTGGGTACGGGGTTGCTCTGCCGGAGGCTGCCGCAACTTCCCAGGTGGGAGATGCTCTTGATGGGGGGAGGGTCTAAGCCGAAAAAGTTCCAGGCAGAAGAAGCCTAACTAGTGCTTATTAAGTCTCTCTGTTCCAGACGTCCACTATCTTATTAAACCTTCCCTGTTTTACTGAGAAGGAAACCACCATGCTGAGAAGTTTGCAATAGGGAGCTGGTAGCAACTTTGAAGCAGGAAACTGTGGGAACAATGCAGATGCTGCTTGACTTACGATGAGGTTATGTCCAGATAAGCCCATCCATCTTTGAAAATACCCTAAGTGAAAAGTGCATTCAATATGCCTAACCCACCAAACATCATAGCTTAGCCTGGCCTACCTTAAACATGCTCGGAACACTGACCTTAGCCTAAAGTTGGGCAAAATCATCTAACTCAAAGCCTATTTTACAAGAAAGTGTTGAATATCTCATGTAACTTACTTAATACTGTACTAAAAGTGAAAAACAGAATGGTTGTACGGGTACTCGAAATCCAGTTTCTACTGAATGTGCATCTCTTTCACATTGTAAAGTTAAAAAATTGTAGCCGAACCATCCTAAGTCAGGGACTGTGAGTACTGTGTCAGTAACAGTAAGGGCACTATTGGAGAACCAAGTTAGCAGCTGCTGCAATAGTTCAAGTCAGAGATGATGAAAACCTAGACCAAGTCAGTAGCAGCAGAGATGGAGGGGAGACAGCAGATTTAGGGAGAGCATATTGGGTGATGTAGGGAAGGAAGAAGAATGATGTCAAGATTCCCAGTTGGGGACCTGACAACATTGCAACATAAGACACACAAGAAGATCGGGTGGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCAGAGCCAGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCACAGGCAACATAGTGACACCTCATCGTTACAAAAAATAAAAAAAAAAATGAGGTGGGAGGATTGCTTGAGCTCGGGAGGTTGAGGCTACAATAAACTGTGATCATGCCACTGCACTCCTGCCTGGGTGACAGAGTGAGACCCTGCCTCAAAAAAAAAAGACACACAAGAGAAAAATATCAGCGTGTTGTTTGTTTTTGGTGGAGTTAATTGTGGGGTTCTAGGGAAAGGAATTTAGCTTGGGACATGGAAAGTTTGAGGTTCCTGTAGAGTGTCCCAGTGAAGATTTGTAATAGAGCATCGGATGCGCATATTAGATGGCACTTGGTGATATGATAAGAACTCAAAAAATATTTGAGGAATAAAGGAAAGAAGAGGCCAGACGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCATCATGCGCGTGTAGGGGGCAGTTAAAAAGCAGAAGTAAGAAAGATTGCCTAGGGAGGCAGGAAGGGTGAGGTGAGAGGAGAAGAGGCCCAGGACCAGATTCTAGTCACCAACAGCGTTTAAGGGGCAGGTAAGGAAAACAAAACCATCAGCAAAGACTGAGAATGAAAGCCCAGAGAGGAAGGAAAAGCCACACATACAATCAGTACAGCTCCATCTGAATAAAGGTAGCGCCCCCCCCCCCCCCAAATCATTAGAGAAATGCCTGAATCGTGTTTTCTGTTGATATTTCCTAAGCACCTAGATGTAGGGAATAGAAATAAATGGCTCCCTCTGTCTCATCCCCTTCCTGCCCTCTGAGAGGCAGCTGTGAATGCGTGCTTCCTTTCTGGGGGTGCAGATACTTTCTGGACCAACCCTCAGTACCGTCTGAAGCTCCTGGAGGAGG
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CAGATTGCGCCACTGCACTCCAGCCTGGGCGACAAGAGAGACTCTGTCTTGGAAAAAAAAAAAAAAATGTTGTCTTAGTATAATGTCAAGGGAAAGGTTTTTTGTGTTTTTATTACTTTATTTTTTATTTAAAAACTATAATAGAGACGGGCCTCGCTATATTTCTCGGGCTGGTCTCAAACTCCTGGGCTCAAGCGGTCCTCCCACCTTGGCCTCCCAAAATGCTGGCATGTGGGCCTGGTCAACATATGGGACCCCAACTCTACAAAAAATTTTAAAATTAGCCAGATGTGGTGGCGTGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAAGCAGGGGGTCACTTGAGCCCAGGAGGTTGAGGCTGCAGTGAACTATGATTGTACCACTGCAGTCCATCCTGGGCAACAGAGCAAGACACTGTCTTAAAAAAAAAGTGCTGGGATTACAGATGTAAGCCACCACACCTGGCCTTCTATTTTTTATGGATATATCATAGCTATATATATTTTTGGGGTACATATGTACCCATATTTTGGGGGTACATATGTACCCATATTTTGGGGGTACATATGATATTTTGATACACATATACAATGTGTAATGATCAAATTAGGGTAATTGAGATACCATCATCTCAAATATGTATCTTTTCTTTGTGTTGGGAACATTACAATTCTTTTCCTCTAGTTATTTTGAAAGATATATAGGCTGGGCGTGGTGGCTTATGCCTGTAATCCCAGCACCTTGGGAGGCTGAGGCGGGCAGATCACTTGAGGTCAGAAGTTCAAGACTAGCCTGGTCAACATGGTGAAACCCCATCTCTACAAAAATACAAAAATTAGCCAGGTGTGGTGGTGTGCACCTGTAATCCCAGCTGCTCAGCTGGCTGAGGCAGGAGAATCCCTTGACCTCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCAACAGAGCGAGACTCTGTCTCAAAAAATACACACACACACACACACACACACACACACACACACACACACACATATATATACACACATATATATACACACACATATACACACACACACGTCTGTATATATATGTGTGTGTGTATATATACACACACACACTATACTATAAATTCTTGTTTAGCTATGTTTGTCTTACTGTGCTATTGAGCATTAGAGCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTTTGTCGCCCAGGCTGGCATACAATGGCGCAATATCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAACTAGGATTACAAGTGCCCGCCATAATGCTCAGCTAATTTTTGTATTTTCAGTAGAGATGGGGTTTCACCATGTTGGCCAAGCTGGTCTCAAACTCCTAGCCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACAGCACCCTGGTGAGCACTAGAGCTTATTTCTTCTATCTAACTGTATTTTTGTATCCATTAGCCACCCTCTTTTCATCCTCCCCTCTCCTTCCCTTCCCAGCCTCTGGTAACCACTGTCTGCTCTCTACTTCCATGACATATGCTTTGTTTTAGCTCTCACATATGAGTGAGAGCATGCGACATTTATCTTTCTGGCCCTGGCACATTTTTGAATCATTGTTAGAAAAGATGATGGTTTGGAGTAGATACATCAGAAGTGACAGCGTTTGCCCTAAAAAGGAAAGACAGGCTCCTCTGGGACCCTGACCAAGTTCCTGTGAACTATTTTATTATTGTGCTGTGTTAGTCCTGGGGTCTTCCGTTCCCAGCCCTCCTCACCTGCTCCCATATGGCTCTCTCTCTTCTTCCAACCTCTCAGGATGTCCTATGAGGATTTCATCTACCATTTCACAAAGTTGGAGATCTGCAACCTCACGGCCGATGCTCTGCAGTCTGACAAGCTTCAGACCTGGACAGTGTCTGTGAACGAGGGCCGCTGGGTACGGGGTTGCTCTGCCGGAGGCTGCCACAACTTCCCAGGTGGGAGATGCTCTTGATGGGGGGAGGGTCTAAGCCGAAAAAGTTCCAGGCAGAAGAAGCCTAACTAGTGCTTATTAAGTCTCTCTGTTCCAGACGTCCACTATCTTATTAAACCTTCCCTGTTTTACTGAGAAGGAAACCACCATGCTGAGAAGTTTGCAATAGGGAGCTGGTAGCAACTTTGAAGCAGGAAACTGTGGGAACAATGCAGATGCTGCTTGACTTACGATGAGGTTATGTCCAGATAAGCCCATCCATCTTTGAAAATACCCTAAGTGAAAAGTGCATTCAATATGCCTAACCCACCAAACATCATAGCTTAGCCTGGCCTACCTTAAACATGCTCGGAACACTGACCTTAGCCTAAAGTTGGGCAAAATCATCTAACTCAAAGCCTATTTTACAAGAAAGTGTTGAATATCTCATGTAACTTACTTAATACTGTACTAAAAGTGAAAAACAGAATGGTTGTACGGGTACTCGAAATCCAGTTTCTACTGAATGTGCATCTCTTTCACATTGTAAAGTTAAAAAATTGTAGCCGAACCATCCTAAGTCAGGGACTGTGAGTACTGTGTCAGTAACAGTAAGGGCACTATTGGAGAACCAAGTTAGCAGCTGCTGCAATAGTTCAAGTCAGAGATGATGAAAACCTAGACCAAGTCAGTAGCAGCAGAGATGGAGGGGAGACAGCAGATTTAGGGAGAGCATATTGGGTGATGTAGGGAAGGAAGAAGAATGATGTCAAGATTCCCAGTTGGGGACCTGACAACATTGCAACATAAGACACACAAGAAGATCGGGTGGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCAGAGCCAGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCACAGGCAACATAGTGACACCTCATCGTTACAAAAAATAAAAAAAAAAATGAGGTGGGAGGATTGCTTGAGCTCGGGAGGTTGAGGCTACAATAAACTGTGATCATGCCACTGCACTCCTGCCTGGGTGACAGAGTGAGACCCTGCCTCAAAAAAAAAAGACACACAAGAGAAAAATATCAGCGTGTTGTTTGTTTTTGGTGGAGTTAATTGTGGGGTTCTAGGGAAAGGAATTTAGCTTGGGACATGGAAAGTTTGAGGTTCCTGTAGAGTGTCCCAGTGAAGATTTGTAATAGAGCATCGGATGCGCATATTAGATGGCACTTGGTGATATGATAAGAACTCAAAAAATATTTGAGGAATAAAGGAAAGAAGAGGCCAGACGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCATCATGCGCGTGTAGGGGGCAGTTAAAAAGCAGAAGTAAGAAAGATTGCCTAGGGAGGCAGGAAGGGTGAGGTGAGAGGAGAAGAGGCCCAGGACCAGATTCTAGTCACCAACAGCGTTTAAGGGGCAGGTAAGGAAAACAAAACCATCAGCAAAGACTGAGAATGAAAGCCCAGAGAGGAAGGAAAAGCCACACATACAATCAGTACAGCTCCATCTGAATAAAGGTAGCGCCCCCCCCCCCCCCAAATCATTAGAGAAATGCCTGAATCGTGTTTTCTGTTGATATTTCCTAAGCACCTAGATGTAGGGAATAGAAATAAATGGCTCCCTCTGTCTCATCCCCTTCCTGCCCTCTGAGAGGCAGCTGTGAATGCGTGCTTCCTTTCTGGGGGTGCAGATACTTTCTGGACCAACCCTCAGTACCGTCTGAAGCTCCTGGAGGAGG
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Task1_train_20567
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The gene CAPN3 (calpain 3) is located on Chromosome 15, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Muscular dystrophy, limb-girdle, autosomal dominant 4
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CAGATTGCGCCACTGCACTCCAGCCTGGGCGACAAGAGAGACTCTGTCTTGGAAAAAAAAAAAAAAATGTTGTCTTAGTATAATGTCAAGGGAAAGGTTTTTTGTGTTTTTATTACTTTATTTTTTATTTAAAAACTATAATAGAGACGGGCCTCGCTATATTTCTCGGGCTGGTCTCAAACTCCTGGGCTCAAGCGGTCCTCCCACCTTGGCCTCCCAAAATGCTGGCATGTGGGCCTGGTCAACATATGGGACCCCAACTCTACAAAAAATTTTAAAATTAGCCAGATGTGGTGGCGTGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAAGCAGGGGGTCACTTGAGCCCAGGAGGTTGAGGCTGCAGTGAACTATGATTGTACCACTGCAGTCCATCCTGGGCAACAGAGCAAGACACTGTCTTAAAAAAAAAGTGCTGGGATTACAGATGTAAGCCACCACACCTGGCCTTCTATTTTTTATGGATATATCATAGCTATATATATTTTTGGGGTACATATGTACCCATATTTTGGGGGTACATATGTACCCATATTTTGGGGGTACATATGATATTTTGATACACATATACAATGTGTAATGATCAAATTAGGGTAATTGAGATACCATCATCTCAAATATGTATCTTTTCTTTGTGTTGGGAACATTACAATTCTTTTCCTCTAGTTATTTTGAAAGATATATAGGCTGGGCGTGGTGGCTTATGCCTGTAATCCCAGCACCTTGGGAGGCTGAGGCGGGCAGATCACTTGAGGTCAGAAGTTCAAGACTAGCCTGGTCAACATGGTGAAACCCCATCTCTACAAAAATACAAAAATTAGCCAGGTGTGGTGGTGTGCACCTGTAATCCCAGCTGCTCAGCTGGCTGAGGCAGGAGAATCCCTTGACCTCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCAACAGAGCGAGACTCTGTCTCAAAAAATACACACACACACACACACACACACACACACACACACACACACACATATATATACACACATATATATACACACACATATACACACACACACGTCTGTATATATATGTGTGTGTGTATATATACACACACACACTATACTATAAATTCTTGTTTAGCTATGTTTGTCTTACTGTGCTATTGAGCATTAGAGCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTTTGTCGCCCAGGCTGGCATACAATGGCGCAATATCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAACTAGGATTACAAGTGCCCGCCATAATGCTCAGCTAATTTTTGTATTTTCAGTAGAGATGGGGTTTCACCATGTTGGCCAAGCTGGTCTCAAACTCCTAGCCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACAGCACCCTGGTGAGCACTAGAGCTTATTTCTTCTATCTAACTGTATTTTTGTATCCATTAGCCACCCTCTTTTCATCCTCCCCTCTCCTTCCCTTCCCAGCCTCTGGTAACCACTGTCTGCTCTCTACTTCCATGACATATGCTTTGTTTTAGCTCTCACATATGAGTGAGAGCATGCGACATTTATCTTTCTGGCCCTGGCACATTTTTGAATCATTGTTAGAAAAGATGATGGTTTGGAGTAGATACATCAGAAGTGACAGCGTTTGCCCTAAAAAGGAAAGACAGGCTCCTCTGGGACCCTGACCAAGTTCCTGTGAACTATTTTATTATTGTGCTGTGTTAGTCCTGGGGTCTTCCGTTCCCAGCCCTCCTCACCTGCTCCCATATGGCTCTCTCTCTTCTTCCAACCTCTCAGGATGTCCTATGAGGATTTCATCTACCATTTCACAAAGTTGGAGATCTGCAACCTCACGGCCGATGCTCTGCAGTCTGACAAGCTTCAGACCTGGACAGTGTCTGTGAACGAGGGCCGCTGGGTACGGGGTTGCTCTGCCGGAGGCTGCCGCAACTTCCCAGGTGGGAGATGCTCTTGATGGGGGGAGGGTCTAAGCCGAAAAAGTTCCAGGCAGAAGAAGCCTAACTAGTGCTTATTAAGTCTCTCTGTTCCAGACGTCCACTATCTTATTAAACCTTCCCTGTTTTACTGAGAAGGAAACCACCATGCTGAGAAGTTTGCAATAGGGAGCTGGTAGCAACTTTGAAGCAGGAAACTGTGGGAACAATGCAGATGCTGCTTGACTTACGATGAGGTTATGTCCAGATAAGCCCATCCATCTTTGAAAATACCCTAAGTGAAAAGTGCATTCAATATGCCTAACCCACCAAACATCATAGCTTAGCCTGGCCTACCTTAAACATGCTCGGAACACTGACCTTAGCCTAAAGTTGGGCAAAATCATCTAACTCAAAGCCTATTTTACAAGAAAGTGTTGAATATCTCATGTAACTTACTTAATACTGTACTAAAAGTGAAAAACAGAATGGTTGTACGGGTACTCGAAATCCAGTTTCTACTGAATGTGCATCTCTTTCACATTGTAAAGTTAAAAAATTGTAGCCGAACCATCCTAAGTCAGGGACTGTGAGTACTGTGTCAGTAACAGTAAGGGCACTATTGGAGAACCAAGTTAGCAGCTGCTGCAATAGTTCAAGTCAGAGATGATGAAAACCTAGACCAAGTCAGTAGCAGCAGAGATGGAGGGGAGACAGCAGATTTAGGGAGAGCATATTGGGTGATGTAGGGAAGGAAGAAGAATGATGTCAAGATTCCCAGTTGGGGACCTGACAACATTGCAACATAAGACACACAAGAAGATCGGGTGGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCAGAGCCAGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCACAGGCAACATAGTGACACCTCATCGTTACAAAAAATAAAAAAAAAAATGAGGTGGGAGGATTGCTTGAGCTCGGGAGGTTGAGGCTACAATAAACTGTGATCATGCCACTGCACTCCTGCCTGGGTGACAGAGTGAGACCCTGCCTCAAAAAAAAAAGACACACAAGAGAAAAATATCAGCGTGTTGTTTGTTTTTGGTGGAGTTAATTGTGGGGTTCTAGGGAAAGGAATTTAGCTTGGGACATGGAAAGTTTGAGGTTCCTGTAGAGTGTCCCAGTGAAGATTTGTAATAGAGCATCGGATGCGCATATTAGATGGCACTTGGTGATATGATAAGAACTCAAAAAATATTTGAGGAATAAAGGAAAGAAGAGGCCAGACGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCATCATGCGCGTGTAGGGGGCAGTTAAAAAGCAGAAGTAAGAAAGATTGCCTAGGGAGGCAGGAAGGGTGAGGTGAGAGGAGAAGAGGCCCAGGACCAGATTCTAGTCACCAACAGCGTTTAAGGGGCAGGTAAGGAAAACAAAACCATCAGCAAAGACTGAGAATGAAAGCCCAGAGAGGAAGGAAAAGCCACACATACAATCAGTACAGCTCCATCTGAATAAAGGTAGCGCCCCCCCCCCCCCCAAATCATTAGAGAAATGCCTGAATCGTGTTTTCTGTTGATATTTCCTAAGCACCTAGATGTAGGGAATAGAAATAAATGGCTCCCTCTGTCTCATCCCCTTCCTGCCCTCTGAGAGGCAGCTGTGAATGCGTGCTTCCTTTCTGGGGGTGCAGATACTTTCTGGACCAACCCTCAGTACCGTCTGAAGCTCCTGGAGGAGG
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CAGATTGCGCCACTGCACTCCAGCCTGGGCGACAAGAGAGACTCTGTCTTGGAAAAAAAAAAAAAAATGTTGTCTTAGTATAATGTCAAGGGAAAGGTTTTTTGTGTTTTTATTACTTTATTTTTTATTTAAAAACTATAATAGAGACGGGCCTCGCTATATTTCTCGGGCTGGTCTCAAACTCCTGGGCTCAAGCGGTCCTCCCACCTTGGCCTCCCAAAATGCTGGCATGTGGGCCTGGTCAACATATGGGACCCCAACTCTACAAAAAATTTTAAAATTAGCCAGATGTGGTGGCGTGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAAGCAGGGGGTCACTTGAGCCCAGGAGGTTGAGGCTGCAGTGAACTATGATTGTACCACTGCAGTCCATCCTGGGCAACAGAGCAAGACACTGTCTTAAAAAAAAAGTGCTGGGATTACAGATGTAAGCCACCACACCTGGCCTTCTATTTTTTATGGATATATCATAGCTATATATATTTTTGGGGTACATATGTACCCATATTTTGGGGGTACATATGTACCCATATTTTGGGGGTACATATGATATTTTGATACACATATACAATGTGTAATGATCAAATTAGGGTAATTGAGATACCATCATCTCAAATATGTATCTTTTCTTTGTGTTGGGAACATTACAATTCTTTTCCTCTAGTTATTTTGAAAGATATATAGGCTGGGCGTGGTGGCTTATGCCTGTAATCCCAGCACCTTGGGAGGCTGAGGCGGGCAGATCACTTGAGGTCAGAAGTTCAAGACTAGCCTGGTCAACATGGTGAAACCCCATCTCTACAAAAATACAAAAATTAGCCAGGTGTGGTGGTGTGCACCTGTAATCCCAGCTGCTCAGCTGGCTGAGGCAGGAGAATCCCTTGACCTCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCAACAGAGCGAGACTCTGTCTCAAAAAATACACACACACACACACACACACACACACACACACACACACACACATATATATACACACATATATATACACACACATATACACACACACACGTCTGTATATATATGTGTGTGTGTATATATACACACACACACTATACTATAAATTCTTGTTTAGCTATGTTTGTCTTACTGTGCTATTGAGCATTAGAGCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTTTGTCGCCCAGGCTGGCATACAATGGCGCAATATCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAACTAGGATTACAAGTGCCCGCCATAATGCTCAGCTAATTTTTGTATTTTCAGTAGAGATGGGGTTTCACCATGTTGGCCAAGCTGGTCTCAAACTCCTAGCCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACAGCACCCTGGTGAGCACTAGAGCTTATTTCTTCTATCTAACTGTATTTTTGTATCCATTAGCCACCCTCTTTTCATCCTCCCCTCTCCTTCCCTTCCCAGCCTCTGGTAACCACTGTCTGCTCTCTACTTCCATGACATATGCTTTGTTTTAGCTCTCACATATGAGTGAGAGCATGCGACATTTATCTTTCTGGCCCTGGCACATTTTTGAATCATTGTTAGAAAAGATGATGGTTTGGAGTAGATACATCAGAAGTGACAGCGTTTGCCCTAAAAAGGAAAGACAGGCTCCTCTGGGACCCTGACCAAGTTCCTGTGAACTATTTTATTATTGTGCTGTGTTAGTCCTGGGGTCTTCCGTTCCCAGCCCTCCTCACCTGCTCCCATATGGCTCTCTCTCTTCTTCCAACCTCTCAGGATGTCCTATGAGGATTTCATCTACCATTTCACAAAGTTGGAGATCTGCAACCTCACGGCCGATGCTCTGCAGTCTGACAAGCTTCAGACCTGGACAGTGTCTGTGAACGAGGGCCGCTGGGTACGGGGTTGCTCTGCCGGAGGCTGCCACAACTTCCCAGGTGGGAGATGCTCTTGATGGGGGGAGGGTCTAAGCCGAAAAAGTTCCAGGCAGAAGAAGCCTAACTAGTGCTTATTAAGTCTCTCTGTTCCAGACGTCCACTATCTTATTAAACCTTCCCTGTTTTACTGAGAAGGAAACCACCATGCTGAGAAGTTTGCAATAGGGAGCTGGTAGCAACTTTGAAGCAGGAAACTGTGGGAACAATGCAGATGCTGCTTGACTTACGATGAGGTTATGTCCAGATAAGCCCATCCATCTTTGAAAATACCCTAAGTGAAAAGTGCATTCAATATGCCTAACCCACCAAACATCATAGCTTAGCCTGGCCTACCTTAAACATGCTCGGAACACTGACCTTAGCCTAAAGTTGGGCAAAATCATCTAACTCAAAGCCTATTTTACAAGAAAGTGTTGAATATCTCATGTAACTTACTTAATACTGTACTAAAAGTGAAAAACAGAATGGTTGTACGGGTACTCGAAATCCAGTTTCTACTGAATGTGCATCTCTTTCACATTGTAAAGTTAAAAAATTGTAGCCGAACCATCCTAAGTCAGGGACTGTGAGTACTGTGTCAGTAACAGTAAGGGCACTATTGGAGAACCAAGTTAGCAGCTGCTGCAATAGTTCAAGTCAGAGATGATGAAAACCTAGACCAAGTCAGTAGCAGCAGAGATGGAGGGGAGACAGCAGATTTAGGGAGAGCATATTGGGTGATGTAGGGAAGGAAGAAGAATGATGTCAAGATTCCCAGTTGGGGACCTGACAACATTGCAACATAAGACACACAAGAAGATCGGGTGGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCAGAGCCAGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCACAGGCAACATAGTGACACCTCATCGTTACAAAAAATAAAAAAAAAAATGAGGTGGGAGGATTGCTTGAGCTCGGGAGGTTGAGGCTACAATAAACTGTGATCATGCCACTGCACTCCTGCCTGGGTGACAGAGTGAGACCCTGCCTCAAAAAAAAAAGACACACAAGAGAAAAATATCAGCGTGTTGTTTGTTTTTGGTGGAGTTAATTGTGGGGTTCTAGGGAAAGGAATTTAGCTTGGGACATGGAAAGTTTGAGGTTCCTGTAGAGTGTCCCAGTGAAGATTTGTAATAGAGCATCGGATGCGCATATTAGATGGCACTTGGTGATATGATAAGAACTCAAAAAATATTTGAGGAATAAAGGAAAGAAGAGGCCAGACGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCATCATGCGCGTGTAGGGGGCAGTTAAAAAGCAGAAGTAAGAAAGATTGCCTAGGGAGGCAGGAAGGGTGAGGTGAGAGGAGAAGAGGCCCAGGACCAGATTCTAGTCACCAACAGCGTTTAAGGGGCAGGTAAGGAAAACAAAACCATCAGCAAAGACTGAGAATGAAAGCCCAGAGAGGAAGGAAAAGCCACACATACAATCAGTACAGCTCCATCTGAATAAAGGTAGCGCCCCCCCCCCCCCCAAATCATTAGAGAAATGCCTGAATCGTGTTTTCTGTTGATATTTCCTAAGCACCTAGATGTAGGGAATAGAAATAAATGGCTCCCTCTGTCTCATCCCCTTCCTGCCCTCTGAGAGGCAGCTGTGAATGCGTGCTTCCTTTCTGGGGGTGCAGATACTTTCTGGACCAACCCTCAGTACCGTCTGAAGCTCCTGGAGGAGG
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Task1_train_20568
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Gene CAPN3 (calpain 3) on Chromosome 15 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Autosomal recessive limb-girdle muscular dystrophy
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CAGATTGCGCCACTGCACTCCAGCCTGGGCGACAAGAGAGACTCTGTCTTGGAAAAAAAAAAAAAAATGTTGTCTTAGTATAATGTCAAGGGAAAGGTTTTTTGTGTTTTTATTACTTTATTTTTTATTTAAAAACTATAATAGAGACGGGCCTCGCTATATTTCTCGGGCTGGTCTCAAACTCCTGGGCTCAAGCGGTCCTCCCACCTTGGCCTCCCAAAATGCTGGCATGTGGGCCTGGTCAACATATGGGACCCCAACTCTACAAAAAATTTTAAAATTAGCCAGATGTGGTGGCGTGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAAGCAGGGGGTCACTTGAGCCCAGGAGGTTGAGGCTGCAGTGAACTATGATTGTACCACTGCAGTCCATCCTGGGCAACAGAGCAAGACACTGTCTTAAAAAAAAAGTGCTGGGATTACAGATGTAAGCCACCACACCTGGCCTTCTATTTTTTATGGATATATCATAGCTATATATATTTTTGGGGTACATATGTACCCATATTTTGGGGGTACATATGTACCCATATTTTGGGGGTACATATGATATTTTGATACACATATACAATGTGTAATGATCAAATTAGGGTAATTGAGATACCATCATCTCAAATATGTATCTTTTCTTTGTGTTGGGAACATTACAATTCTTTTCCTCTAGTTATTTTGAAAGATATATAGGCTGGGCGTGGTGGCTTATGCCTGTAATCCCAGCACCTTGGGAGGCTGAGGCGGGCAGATCACTTGAGGTCAGAAGTTCAAGACTAGCCTGGTCAACATGGTGAAACCCCATCTCTACAAAAATACAAAAATTAGCCAGGTGTGGTGGTGTGCACCTGTAATCCCAGCTGCTCAGCTGGCTGAGGCAGGAGAATCCCTTGACCTCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCAACAGAGCGAGACTCTGTCTCAAAAAATACACACACACACACACACACACACACACACACACACACACACACATATATATACACACATATATATACACACACATATACACACACACACGTCTGTATATATATGTGTGTGTGTATATATACACACACACACTATACTATAAATTCTTGTTTAGCTATGTTTGTCTTACTGTGCTATTGAGCATTAGAGCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTTTGTCGCCCAGGCTGGCATACAATGGCGCAATATCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAACTAGGATTACAAGTGCCCGCCATAATGCTCAGCTAATTTTTGTATTTTCAGTAGAGATGGGGTTTCACCATGTTGGCCAAGCTGGTCTCAAACTCCTAGCCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACAGCACCCTGGTGAGCACTAGAGCTTATTTCTTCTATCTAACTGTATTTTTGTATCCATTAGCCACCCTCTTTTCATCCTCCCCTCTCCTTCCCTTCCCAGCCTCTGGTAACCACTGTCTGCTCTCTACTTCCATGACATATGCTTTGTTTTAGCTCTCACATATGAGTGAGAGCATGCGACATTTATCTTTCTGGCCCTGGCACATTTTTGAATCATTGTTAGAAAAGATGATGGTTTGGAGTAGATACATCAGAAGTGACAGCGTTTGCCCTAAAAAGGAAAGACAGGCTCCTCTGGGACCCTGACCAAGTTCCTGTGAACTATTTTATTATTGTGCTGTGTTAGTCCTGGGGTCTTCCGTTCCCAGCCCTCCTCACCTGCTCCCATATGGCTCTCTCTCTTCTTCCAACCTCTCAGGATGTCCTATGAGGATTTCATCTACCATTTCACAAAGTTGGAGATCTGCAACCTCACGGCCGATGCTCTGCAGTCTGACAAGCTTCAGACCTGGACAGTGTCTGTGAACGAGGGCCGCTGGGTACGGGGTTGCTCTGCCGGAGGCTGCCGCAACTTCCCAGGTGGGAGATGCTCTTGATGGGGGGAGGGTCTAAGCCGAAAAAGTTCCAGGCAGAAGAAGCCTAACTAGTGCTTATTAAGTCTCTCTGTTCCAGACGTCCACTATCTTATTAAACCTTCCCTGTTTTACTGAGAAGGAAACCACCATGCTGAGAAGTTTGCAATAGGGAGCTGGTAGCAACTTTGAAGCAGGAAACTGTGGGAACAATGCAGATGCTGCTTGACTTACGATGAGGTTATGTCCAGATAAGCCCATCCATCTTTGAAAATACCCTAAGTGAAAAGTGCATTCAATATGCCTAACCCACCAAACATCATAGCTTAGCCTGGCCTACCTTAAACATGCTCGGAACACTGACCTTAGCCTAAAGTTGGGCAAAATCATCTAACTCAAAGCCTATTTTACAAGAAAGTGTTGAATATCTCATGTAACTTACTTAATACTGTACTAAAAGTGAAAAACAGAATGGTTGTACGGGTACTCGAAATCCAGTTTCTACTGAATGTGCATCTCTTTCACATTGTAAAGTTAAAAAATTGTAGCCGAACCATCCTAAGTCAGGGACTGTGAGTACTGTGTCAGTAACAGTAAGGGCACTATTGGAGAACCAAGTTAGCAGCTGCTGCAATAGTTCAAGTCAGAGATGATGAAAACCTAGACCAAGTCAGTAGCAGCAGAGATGGAGGGGAGACAGCAGATTTAGGGAGAGCATATTGGGTGATGTAGGGAAGGAAGAAGAATGATGTCAAGATTCCCAGTTGGGGACCTGACAACATTGCAACATAAGACACACAAGAAGATCGGGTGGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCAGAGCCAGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCACAGGCAACATAGTGACACCTCATCGTTACAAAAAATAAAAAAAAAAATGAGGTGGGAGGATTGCTTGAGCTCGGGAGGTTGAGGCTACAATAAACTGTGATCATGCCACTGCACTCCTGCCTGGGTGACAGAGTGAGACCCTGCCTCAAAAAAAAAAGACACACAAGAGAAAAATATCAGCGTGTTGTTTGTTTTTGGTGGAGTTAATTGTGGGGTTCTAGGGAAAGGAATTTAGCTTGGGACATGGAAAGTTTGAGGTTCCTGTAGAGTGTCCCAGTGAAGATTTGTAATAGAGCATCGGATGCGCATATTAGATGGCACTTGGTGATATGATAAGAACTCAAAAAATATTTGAGGAATAAAGGAAAGAAGAGGCCAGACGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCATCATGCGCGTGTAGGGGGCAGTTAAAAAGCAGAAGTAAGAAAGATTGCCTAGGGAGGCAGGAAGGGTGAGGTGAGAGGAGAAGAGGCCCAGGACCAGATTCTAGTCACCAACAGCGTTTAAGGGGCAGGTAAGGAAAACAAAACCATCAGCAAAGACTGAGAATGAAAGCCCAGAGAGGAAGGAAAAGCCACACATACAATCAGTACAGCTCCATCTGAATAAAGGTAGCGCCCCCCCCCCCCCCAAATCATTAGAGAAATGCCTGAATCGTGTTTTCTGTTGATATTTCCTAAGCACCTAGATGTAGGGAATAGAAATAAATGGCTCCCTCTGTCTCATCCCCTTCCTGCCCTCTGAGAGGCAGCTGTGAATGCGTGCTTCCTTTCTGGGGGTGCAGATACTTTCTGGACCAACCCTCAGTACCGTCTGAAGCTCCTGGAGGAGG
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CAGATTGCGCCACTGCACTCCAGCCTGGGCGACAAGAGAGACTCTGTCTTGGAAAAAAAAAAAAAAATGTTGTCTTAGTATAATGTCAAGGGAAAGGTTTTTTGTGTTTTTATTACTTTATTTTTTATTTAAAAACTATAATAGAGACGGGCCTCGCTATATTTCTCGGGCTGGTCTCAAACTCCTGGGCTCAAGCGGTCCTCCCACCTTGGCCTCCCAAAATGCTGGCATGTGGGCCTGGTCAACATATGGGACCCCAACTCTACAAAAAATTTTAAAATTAGCCAGATGTGGTGGCGTGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAAGCAGGGGGTCACTTGAGCCCAGGAGGTTGAGGCTGCAGTGAACTATGATTGTACCACTGCAGTCCATCCTGGGCAACAGAGCAAGACACTGTCTTAAAAAAAAAGTGCTGGGATTACAGATGTAAGCCACCACACCTGGCCTTCTATTTTTTATGGATATATCATAGCTATATATATTTTTGGGGTACATATGTACCCATATTTTGGGGGTACATATGTACCCATATTTTGGGGGTACATATGATATTTTGATACACATATACAATGTGTAATGATCAAATTAGGGTAATTGAGATACCATCATCTCAAATATGTATCTTTTCTTTGTGTTGGGAACATTACAATTCTTTTCCTCTAGTTATTTTGAAAGATATATAGGCTGGGCGTGGTGGCTTATGCCTGTAATCCCAGCACCTTGGGAGGCTGAGGCGGGCAGATCACTTGAGGTCAGAAGTTCAAGACTAGCCTGGTCAACATGGTGAAACCCCATCTCTACAAAAATACAAAAATTAGCCAGGTGTGGTGGTGTGCACCTGTAATCCCAGCTGCTCAGCTGGCTGAGGCAGGAGAATCCCTTGACCTCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCAACAGAGCGAGACTCTGTCTCAAAAAATACACACACACACACACACACACACACACACACACACACACACACATATATATACACACATATATATACACACACATATACACACACACACGTCTGTATATATATGTGTGTGTGTATATATACACACACACACTATACTATAAATTCTTGTTTAGCTATGTTTGTCTTACTGTGCTATTGAGCATTAGAGCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTTTGTCGCCCAGGCTGGCATACAATGGCGCAATATCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAACTAGGATTACAAGTGCCCGCCATAATGCTCAGCTAATTTTTGTATTTTCAGTAGAGATGGGGTTTCACCATGTTGGCCAAGCTGGTCTCAAACTCCTAGCCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACAGCACCCTGGTGAGCACTAGAGCTTATTTCTTCTATCTAACTGTATTTTTGTATCCATTAGCCACCCTCTTTTCATCCTCCCCTCTCCTTCCCTTCCCAGCCTCTGGTAACCACTGTCTGCTCTCTACTTCCATGACATATGCTTTGTTTTAGCTCTCACATATGAGTGAGAGCATGCGACATTTATCTTTCTGGCCCTGGCACATTTTTGAATCATTGTTAGAAAAGATGATGGTTTGGAGTAGATACATCAGAAGTGACAGCGTTTGCCCTAAAAAGGAAAGACAGGCTCCTCTGGGACCCTGACCAAGTTCCTGTGAACTATTTTATTATTGTGCTGTGTTAGTCCTGGGGTCTTCCGTTCCCAGCCCTCCTCACCTGCTCCCATATGGCTCTCTCTCTTCTTCCAACCTCTCAGGATGTCCTATGAGGATTTCATCTACCATTTCACAAAGTTGGAGATCTGCAACCTCACGGCCGATGCTCTGCAGTCTGACAAGCTTCAGACCTGGACAGTGTCTGTGAACGAGGGCCGCTGGGTACGGGGTTGCTCTGCCGGAGGCTGCCACAACTTCCCAGGTGGGAGATGCTCTTGATGGGGGGAGGGTCTAAGCCGAAAAAGTTCCAGGCAGAAGAAGCCTAACTAGTGCTTATTAAGTCTCTCTGTTCCAGACGTCCACTATCTTATTAAACCTTCCCTGTTTTACTGAGAAGGAAACCACCATGCTGAGAAGTTTGCAATAGGGAGCTGGTAGCAACTTTGAAGCAGGAAACTGTGGGAACAATGCAGATGCTGCTTGACTTACGATGAGGTTATGTCCAGATAAGCCCATCCATCTTTGAAAATACCCTAAGTGAAAAGTGCATTCAATATGCCTAACCCACCAAACATCATAGCTTAGCCTGGCCTACCTTAAACATGCTCGGAACACTGACCTTAGCCTAAAGTTGGGCAAAATCATCTAACTCAAAGCCTATTTTACAAGAAAGTGTTGAATATCTCATGTAACTTACTTAATACTGTACTAAAAGTGAAAAACAGAATGGTTGTACGGGTACTCGAAATCCAGTTTCTACTGAATGTGCATCTCTTTCACATTGTAAAGTTAAAAAATTGTAGCCGAACCATCCTAAGTCAGGGACTGTGAGTACTGTGTCAGTAACAGTAAGGGCACTATTGGAGAACCAAGTTAGCAGCTGCTGCAATAGTTCAAGTCAGAGATGATGAAAACCTAGACCAAGTCAGTAGCAGCAGAGATGGAGGGGAGACAGCAGATTTAGGGAGAGCATATTGGGTGATGTAGGGAAGGAAGAAGAATGATGTCAAGATTCCCAGTTGGGGACCTGACAACATTGCAACATAAGACACACAAGAAGATCGGGTGGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCAGAGCCAGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCACAGGCAACATAGTGACACCTCATCGTTACAAAAAATAAAAAAAAAAATGAGGTGGGAGGATTGCTTGAGCTCGGGAGGTTGAGGCTACAATAAACTGTGATCATGCCACTGCACTCCTGCCTGGGTGACAGAGTGAGACCCTGCCTCAAAAAAAAAAGACACACAAGAGAAAAATATCAGCGTGTTGTTTGTTTTTGGTGGAGTTAATTGTGGGGTTCTAGGGAAAGGAATTTAGCTTGGGACATGGAAAGTTTGAGGTTCCTGTAGAGTGTCCCAGTGAAGATTTGTAATAGAGCATCGGATGCGCATATTAGATGGCACTTGGTGATATGATAAGAACTCAAAAAATATTTGAGGAATAAAGGAAAGAAGAGGCCAGACGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCATCATGCGCGTGTAGGGGGCAGTTAAAAAGCAGAAGTAAGAAAGATTGCCTAGGGAGGCAGGAAGGGTGAGGTGAGAGGAGAAGAGGCCCAGGACCAGATTCTAGTCACCAACAGCGTTTAAGGGGCAGGTAAGGAAAACAAAACCATCAGCAAAGACTGAGAATGAAAGCCCAGAGAGGAAGGAAAAGCCACACATACAATCAGTACAGCTCCATCTGAATAAAGGTAGCGCCCCCCCCCCCCCCAAATCATTAGAGAAATGCCTGAATCGTGTTTTCTGTTGATATTTCCTAAGCACCTAGATGTAGGGAATAGAAATAAATGGCTCCCTCTGTCTCATCCCCTTCCTGCCCTCTGAGAGGCAGCTGTGAATGCGTGCTTCCTTTCTGGGGGTGCAGATACTTTCTGGACCAACCCTCAGTACCGTCTGAAGCTCCTGGAGGAGG
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Task1_train_20569
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The gene CAPN3 (calpain 3) is located on Chromosome 15, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Abnormality of the musculature
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CAGATTGCGCCACTGCACTCCAGCCTGGGCGACAAGAGAGACTCTGTCTTGGAAAAAAAAAAAAAAATGTTGTCTTAGTATAATGTCAAGGGAAAGGTTTTTTGTGTTTTTATTACTTTATTTTTTATTTAAAAACTATAATAGAGACGGGCCTCGCTATATTTCTCGGGCTGGTCTCAAACTCCTGGGCTCAAGCGGTCCTCCCACCTTGGCCTCCCAAAATGCTGGCATGTGGGCCTGGTCAACATATGGGACCCCAACTCTACAAAAAATTTTAAAATTAGCCAGATGTGGTGGCGTGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAAGCAGGGGGTCACTTGAGCCCAGGAGGTTGAGGCTGCAGTGAACTATGATTGTACCACTGCAGTCCATCCTGGGCAACAGAGCAAGACACTGTCTTAAAAAAAAAGTGCTGGGATTACAGATGTAAGCCACCACACCTGGCCTTCTATTTTTTATGGATATATCATAGCTATATATATTTTTGGGGTACATATGTACCCATATTTTGGGGGTACATATGTACCCATATTTTGGGGGTACATATGATATTTTGATACACATATACAATGTGTAATGATCAAATTAGGGTAATTGAGATACCATCATCTCAAATATGTATCTTTTCTTTGTGTTGGGAACATTACAATTCTTTTCCTCTAGTTATTTTGAAAGATATATAGGCTGGGCGTGGTGGCTTATGCCTGTAATCCCAGCACCTTGGGAGGCTGAGGCGGGCAGATCACTTGAGGTCAGAAGTTCAAGACTAGCCTGGTCAACATGGTGAAACCCCATCTCTACAAAAATACAAAAATTAGCCAGGTGTGGTGGTGTGCACCTGTAATCCCAGCTGCTCAGCTGGCTGAGGCAGGAGAATCCCTTGACCTCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCAACAGAGCGAGACTCTGTCTCAAAAAATACACACACACACACACACACACACACACACACACACACACACACATATATATACACACATATATATACACACACATATACACACACACACGTCTGTATATATATGTGTGTGTGTATATATACACACACACACTATACTATAAATTCTTGTTTAGCTATGTTTGTCTTACTGTGCTATTGAGCATTAGAGCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTTTGTCGCCCAGGCTGGCATACAATGGCGCAATATCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAACTAGGATTACAAGTGCCCGCCATAATGCTCAGCTAATTTTTGTATTTTCAGTAGAGATGGGGTTTCACCATGTTGGCCAAGCTGGTCTCAAACTCCTAGCCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACAGCACCCTGGTGAGCACTAGAGCTTATTTCTTCTATCTAACTGTATTTTTGTATCCATTAGCCACCCTCTTTTCATCCTCCCCTCTCCTTCCCTTCCCAGCCTCTGGTAACCACTGTCTGCTCTCTACTTCCATGACATATGCTTTGTTTTAGCTCTCACATATGAGTGAGAGCATGCGACATTTATCTTTCTGGCCCTGGCACATTTTTGAATCATTGTTAGAAAAGATGATGGTTTGGAGTAGATACATCAGAAGTGACAGCGTTTGCCCTAAAAAGGAAAGACAGGCTCCTCTGGGACCCTGACCAAGTTCCTGTGAACTATTTTATTATTGTGCTGTGTTAGTCCTGGGGTCTTCCGTTCCCAGCCCTCCTCACCTGCTCCCATATGGCTCTCTCTCTTCTTCCAACCTCTCAGGATGTCCTATGAGGATTTCATCTACCATTTCACAAAGTTGGAGATCTGCAACCTCACGGCCGATGCTCTGCAGTCTGACAAGCTTCAGACCTGGACAGTGTCTGTGAACGAGGGCCGCTGGGTACGGGGTTGCTCTGCCGGAGGCTGCCGCAACTTCCCAGGTGGGAGATGCTCTTGATGGGGGGAGGGTCTAAGCCGAAAAAGTTCCAGGCAGAAGAAGCCTAACTAGTGCTTATTAAGTCTCTCTGTTCCAGACGTCCACTATCTTATTAAACCTTCCCTGTTTTACTGAGAAGGAAACCACCATGCTGAGAAGTTTGCAATAGGGAGCTGGTAGCAACTTTGAAGCAGGAAACTGTGGGAACAATGCAGATGCTGCTTGACTTACGATGAGGTTATGTCCAGATAAGCCCATCCATCTTTGAAAATACCCTAAGTGAAAAGTGCATTCAATATGCCTAACCCACCAAACATCATAGCTTAGCCTGGCCTACCTTAAACATGCTCGGAACACTGACCTTAGCCTAAAGTTGGGCAAAATCATCTAACTCAAAGCCTATTTTACAAGAAAGTGTTGAATATCTCATGTAACTTACTTAATACTGTACTAAAAGTGAAAAACAGAATGGTTGTACGGGTACTCGAAATCCAGTTTCTACTGAATGTGCATCTCTTTCACATTGTAAAGTTAAAAAATTGTAGCCGAACCATCCTAAGTCAGGGACTGTGAGTACTGTGTCAGTAACAGTAAGGGCACTATTGGAGAACCAAGTTAGCAGCTGCTGCAATAGTTCAAGTCAGAGATGATGAAAACCTAGACCAAGTCAGTAGCAGCAGAGATGGAGGGGAGACAGCAGATTTAGGGAGAGCATATTGGGTGATGTAGGGAAGGAAGAAGAATGATGTCAAGATTCCCAGTTGGGGACCTGACAACATTGCAACATAAGACACACAAGAAGATCGGGTGGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCAGAGCCAGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCACAGGCAACATAGTGACACCTCATCGTTACAAAAAATAAAAAAAAAAATGAGGTGGGAGGATTGCTTGAGCTCGGGAGGTTGAGGCTACAATAAACTGTGATCATGCCACTGCACTCCTGCCTGGGTGACAGAGTGAGACCCTGCCTCAAAAAAAAAAGACACACAAGAGAAAAATATCAGCGTGTTGTTTGTTTTTGGTGGAGTTAATTGTGGGGTTCTAGGGAAAGGAATTTAGCTTGGGACATGGAAAGTTTGAGGTTCCTGTAGAGTGTCCCAGTGAAGATTTGTAATAGAGCATCGGATGCGCATATTAGATGGCACTTGGTGATATGATAAGAACTCAAAAAATATTTGAGGAATAAAGGAAAGAAGAGGCCAGACGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCATCATGCGCGTGTAGGGGGCAGTTAAAAAGCAGAAGTAAGAAAGATTGCCTAGGGAGGCAGGAAGGGTGAGGTGAGAGGAGAAGAGGCCCAGGACCAGATTCTAGTCACCAACAGCGTTTAAGGGGCAGGTAAGGAAAACAAAACCATCAGCAAAGACTGAGAATGAAAGCCCAGAGAGGAAGGAAAAGCCACACATACAATCAGTACAGCTCCATCTGAATAAAGGTAGCGCCCCCCCCCCCCCCAAATCATTAGAGAAATGCCTGAATCGTGTTTTCTGTTGATATTTCCTAAGCACCTAGATGTAGGGAATAGAAATAAATGGCTCCCTCTGTCTCATCCCCTTCCTGCCCTCTGAGAGGCAGCTGTGAATGCGTGCTTCCTTTCTGGGGGTGCAGATACTTTCTGGACCAACCCTCAGTACCGTCTGAAGCTCCTGGAGGAGG
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CAGATTGCGCCACTGCACTCCAGCCTGGGCGACAAGAGAGACTCTGTCTTGGAAAAAAAAAAAAAAATGTTGTCTTAGTATAATGTCAAGGGAAAGGTTTTTTGTGTTTTTATTACTTTATTTTTTATTTAAAAACTATAATAGAGACGGGCCTCGCTATATTTCTCGGGCTGGTCTCAAACTCCTGGGCTCAAGCGGTCCTCCCACCTTGGCCTCCCAAAATGCTGGCATGTGGGCCTGGTCAACATATGGGACCCCAACTCTACAAAAAATTTTAAAATTAGCCAGATGTGGTGGCGTGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAAGCAGGGGGTCACTTGAGCCCAGGAGGTTGAGGCTGCAGTGAACTATGATTGTACCACTGCAGTCCATCCTGGGCAACAGAGCAAGACACTGTCTTAAAAAAAAAGTGCTGGGATTACAGATGTAAGCCACCACACCTGGCCTTCTATTTTTTATGGATATATCATAGCTATATATATTTTTGGGGTACATATGTACCCATATTTTGGGGGTACATATGTACCCATATTTTGGGGGTACATATGATATTTTGATACACATATACAATGTGTAATGATCAAATTAGGGTAATTGAGATACCATCATCTCAAATATGTATCTTTTCTTTGTGTTGGGAACATTACAATTCTTTTCCTCTAGTTATTTTGAAAGATATATAGGCTGGGCGTGGTGGCTTATGCCTGTAATCCCAGCACCTTGGGAGGCTGAGGCGGGCAGATCACTTGAGGTCAGAAGTTCAAGACTAGCCTGGTCAACATGGTGAAACCCCATCTCTACAAAAATACAAAAATTAGCCAGGTGTGGTGGTGTGCACCTGTAATCCCAGCTGCTCAGCTGGCTGAGGCAGGAGAATCCCTTGACCTCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCAACAGAGCGAGACTCTGTCTCAAAAAATACACACACACACACACACACACACACACACACACACACACACACATATATATACACACATATATATACACACACATATACACACACACACGTCTGTATATATATGTGTGTGTGTATATATACACACACACACTATACTATAAATTCTTGTTTAGCTATGTTTGTCTTACTGTGCTATTGAGCATTAGAGCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTTTGTCGCCCAGGCTGGCATACAATGGCGCAATATCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAACTAGGATTACAAGTGCCCGCCATAATGCTCAGCTAATTTTTGTATTTTCAGTAGAGATGGGGTTTCACCATGTTGGCCAAGCTGGTCTCAAACTCCTAGCCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACAGCACCCTGGTGAGCACTAGAGCTTATTTCTTCTATCTAACTGTATTTTTGTATCCATTAGCCACCCTCTTTTCATCCTCCCCTCTCCTTCCCTTCCCAGCCTCTGGTAACCACTGTCTGCTCTCTACTTCCATGACATATGCTTTGTTTTAGCTCTCACATATGAGTGAGAGCATGCGACATTTATCTTTCTGGCCCTGGCACATTTTTGAATCATTGTTAGAAAAGATGATGGTTTGGAGTAGATACATCAGAAGTGACAGCGTTTGCCCTAAAAAGGAAAGACAGGCTCCTCTGGGACCCTGACCAAGTTCCTGTGAACTATTTTATTATTGTGCTGTGTTAGTCCTGGGGTCTTCCGTTCCCAGCCCTCCTCACCTGCTCCCATATGGCTCTCTCTCTTCTTCCAACCTCTCAGGATGTCCTATGAGGATTTCATCTACCATTTCACAAAGTTGGAGATCTGCAACCTCACGGCCGATGCTCTGCAGTCTGACAAGCTTCAGACCTGGACAGTGTCTGTGAACGAGGGCCGCTGGGTACGGGGTTGCTCTGCCGGAGGCTGCCTCAACTTCCCAGGTGGGAGATGCTCTTGATGGGGGGAGGGTCTAAGCCGAAAAAGTTCCAGGCAGAAGAAGCCTAACTAGTGCTTATTAAGTCTCTCTGTTCCAGACGTCCACTATCTTATTAAACCTTCCCTGTTTTACTGAGAAGGAAACCACCATGCTGAGAAGTTTGCAATAGGGAGCTGGTAGCAACTTTGAAGCAGGAAACTGTGGGAACAATGCAGATGCTGCTTGACTTACGATGAGGTTATGTCCAGATAAGCCCATCCATCTTTGAAAATACCCTAAGTGAAAAGTGCATTCAATATGCCTAACCCACCAAACATCATAGCTTAGCCTGGCCTACCTTAAACATGCTCGGAACACTGACCTTAGCCTAAAGTTGGGCAAAATCATCTAACTCAAAGCCTATTTTACAAGAAAGTGTTGAATATCTCATGTAACTTACTTAATACTGTACTAAAAGTGAAAAACAGAATGGTTGTACGGGTACTCGAAATCCAGTTTCTACTGAATGTGCATCTCTTTCACATTGTAAAGTTAAAAAATTGTAGCCGAACCATCCTAAGTCAGGGACTGTGAGTACTGTGTCAGTAACAGTAAGGGCACTATTGGAGAACCAAGTTAGCAGCTGCTGCAATAGTTCAAGTCAGAGATGATGAAAACCTAGACCAAGTCAGTAGCAGCAGAGATGGAGGGGAGACAGCAGATTTAGGGAGAGCATATTGGGTGATGTAGGGAAGGAAGAAGAATGATGTCAAGATTCCCAGTTGGGGACCTGACAACATTGCAACATAAGACACACAAGAAGATCGGGTGGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCAGAGCCAGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCACAGGCAACATAGTGACACCTCATCGTTACAAAAAATAAAAAAAAAAATGAGGTGGGAGGATTGCTTGAGCTCGGGAGGTTGAGGCTACAATAAACTGTGATCATGCCACTGCACTCCTGCCTGGGTGACAGAGTGAGACCCTGCCTCAAAAAAAAAAGACACACAAGAGAAAAATATCAGCGTGTTGTTTGTTTTTGGTGGAGTTAATTGTGGGGTTCTAGGGAAAGGAATTTAGCTTGGGACATGGAAAGTTTGAGGTTCCTGTAGAGTGTCCCAGTGAAGATTTGTAATAGAGCATCGGATGCGCATATTAGATGGCACTTGGTGATATGATAAGAACTCAAAAAATATTTGAGGAATAAAGGAAAGAAGAGGCCAGACGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCATCATGCGCGTGTAGGGGGCAGTTAAAAAGCAGAAGTAAGAAAGATTGCCTAGGGAGGCAGGAAGGGTGAGGTGAGAGGAGAAGAGGCCCAGGACCAGATTCTAGTCACCAACAGCGTTTAAGGGGCAGGTAAGGAAAACAAAACCATCAGCAAAGACTGAGAATGAAAGCCCAGAGAGGAAGGAAAAGCCACACATACAATCAGTACAGCTCCATCTGAATAAAGGTAGCGCCCCCCCCCCCCCCAAATCATTAGAGAAATGCCTGAATCGTGTTTTCTGTTGATATTTCCTAAGCACCTAGATGTAGGGAATAGAAATAAATGGCTCCCTCTGTCTCATCCCCTTCCTGCCCTCTGAGAGGCAGCTGTGAATGCGTGCTTCCTTTCTGGGGGTGCAGATACTTTCTGGACCAACCCTCAGTACCGTCTGAAGCTCCTGGAGGAGG
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Task1_train_20570
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A sequence alteration has been identified in CAPN3 (calpain 3) on Chromosome 15. Is it disease-inducing or harmless?
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Pathogenic; Autosomal recessive limb-girdle muscular dystrophy
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CAGATTGCGCCACTGCACTCCAGCCTGGGCGACAAGAGAGACTCTGTCTTGGAAAAAAAAAAAAAAATGTTGTCTTAGTATAATGTCAAGGGAAAGGTTTTTTGTGTTTTTATTACTTTATTTTTTATTTAAAAACTATAATAGAGACGGGCCTCGCTATATTTCTCGGGCTGGTCTCAAACTCCTGGGCTCAAGCGGTCCTCCCACCTTGGCCTCCCAAAATGCTGGCATGTGGGCCTGGTCAACATATGGGACCCCAACTCTACAAAAAATTTTAAAATTAGCCAGATGTGGTGGCGTGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAAGCAGGGGGTCACTTGAGCCCAGGAGGTTGAGGCTGCAGTGAACTATGATTGTACCACTGCAGTCCATCCTGGGCAACAGAGCAAGACACTGTCTTAAAAAAAAAGTGCTGGGATTACAGATGTAAGCCACCACACCTGGCCTTCTATTTTTTATGGATATATCATAGCTATATATATTTTTGGGGTACATATGTACCCATATTTTGGGGGTACATATGTACCCATATTTTGGGGGTACATATGATATTTTGATACACATATACAATGTGTAATGATCAAATTAGGGTAATTGAGATACCATCATCTCAAATATGTATCTTTTCTTTGTGTTGGGAACATTACAATTCTTTTCCTCTAGTTATTTTGAAAGATATATAGGCTGGGCGTGGTGGCTTATGCCTGTAATCCCAGCACCTTGGGAGGCTGAGGCGGGCAGATCACTTGAGGTCAGAAGTTCAAGACTAGCCTGGTCAACATGGTGAAACCCCATCTCTACAAAAATACAAAAATTAGCCAGGTGTGGTGGTGTGCACCTGTAATCCCAGCTGCTCAGCTGGCTGAGGCAGGAGAATCCCTTGACCTCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCAACAGAGCGAGACTCTGTCTCAAAAAATACACACACACACACACACACACACACACACACACACACACACACATATATATACACACATATATATACACACACATATACACACACACACGTCTGTATATATATGTGTGTGTGTATATATACACACACACACTATACTATAAATTCTTGTTTAGCTATGTTTGTCTTACTGTGCTATTGAGCATTAGAGCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTTTGTCGCCCAGGCTGGCATACAATGGCGCAATATCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAACTAGGATTACAAGTGCCCGCCATAATGCTCAGCTAATTTTTGTATTTTCAGTAGAGATGGGGTTTCACCATGTTGGCCAAGCTGGTCTCAAACTCCTAGCCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACAGCACCCTGGTGAGCACTAGAGCTTATTTCTTCTATCTAACTGTATTTTTGTATCCATTAGCCACCCTCTTTTCATCCTCCCCTCTCCTTCCCTTCCCAGCCTCTGGTAACCACTGTCTGCTCTCTACTTCCATGACATATGCTTTGTTTTAGCTCTCACATATGAGTGAGAGCATGCGACATTTATCTTTCTGGCCCTGGCACATTTTTGAATCATTGTTAGAAAAGATGATGGTTTGGAGTAGATACATCAGAAGTGACAGCGTTTGCCCTAAAAAGGAAAGACAGGCTCCTCTGGGACCCTGACCAAGTTCCTGTGAACTATTTTATTATTGTGCTGTGTTAGTCCTGGGGTCTTCCGTTCCCAGCCCTCCTCACCTGCTCCCATATGGCTCTCTCTCTTCTTCCAACCTCTCAGGATGTCCTATGAGGATTTCATCTACCATTTCACAAAGTTGGAGATCTGCAACCTCACGGCCGATGCTCTGCAGTCTGACAAGCTTCAGACCTGGACAGTGTCTGTGAACGAGGGCCGCTGGGTACGGGGTTGCTCTGCCGGAGGCTGCCGCAACTTCCCAGGTGGGAGATGCTCTTGATGGGGGGAGGGTCTAAGCCGAAAAAGTTCCAGGCAGAAGAAGCCTAACTAGTGCTTATTAAGTCTCTCTGTTCCAGACGTCCACTATCTTATTAAACCTTCCCTGTTTTACTGAGAAGGAAACCACCATGCTGAGAAGTTTGCAATAGGGAGCTGGTAGCAACTTTGAAGCAGGAAACTGTGGGAACAATGCAGATGCTGCTTGACTTACGATGAGGTTATGTCCAGATAAGCCCATCCATCTTTGAAAATACCCTAAGTGAAAAGTGCATTCAATATGCCTAACCCACCAAACATCATAGCTTAGCCTGGCCTACCTTAAACATGCTCGGAACACTGACCTTAGCCTAAAGTTGGGCAAAATCATCTAACTCAAAGCCTATTTTACAAGAAAGTGTTGAATATCTCATGTAACTTACTTAATACTGTACTAAAAGTGAAAAACAGAATGGTTGTACGGGTACTCGAAATCCAGTTTCTACTGAATGTGCATCTCTTTCACATTGTAAAGTTAAAAAATTGTAGCCGAACCATCCTAAGTCAGGGACTGTGAGTACTGTGTCAGTAACAGTAAGGGCACTATTGGAGAACCAAGTTAGCAGCTGCTGCAATAGTTCAAGTCAGAGATGATGAAAACCTAGACCAAGTCAGTAGCAGCAGAGATGGAGGGGAGACAGCAGATTTAGGGAGAGCATATTGGGTGATGTAGGGAAGGAAGAAGAATGATGTCAAGATTCCCAGTTGGGGACCTGACAACATTGCAACATAAGACACACAAGAAGATCGGGTGGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCAGAGCCAGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCACAGGCAACATAGTGACACCTCATCGTTACAAAAAATAAAAAAAAAAATGAGGTGGGAGGATTGCTTGAGCTCGGGAGGTTGAGGCTACAATAAACTGTGATCATGCCACTGCACTCCTGCCTGGGTGACAGAGTGAGACCCTGCCTCAAAAAAAAAAGACACACAAGAGAAAAATATCAGCGTGTTGTTTGTTTTTGGTGGAGTTAATTGTGGGGTTCTAGGGAAAGGAATTTAGCTTGGGACATGGAAAGTTTGAGGTTCCTGTAGAGTGTCCCAGTGAAGATTTGTAATAGAGCATCGGATGCGCATATTAGATGGCACTTGGTGATATGATAAGAACTCAAAAAATATTTGAGGAATAAAGGAAAGAAGAGGCCAGACGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCATCATGCGCGTGTAGGGGGCAGTTAAAAAGCAGAAGTAAGAAAGATTGCCTAGGGAGGCAGGAAGGGTGAGGTGAGAGGAGAAGAGGCCCAGGACCAGATTCTAGTCACCAACAGCGTTTAAGGGGCAGGTAAGGAAAACAAAACCATCAGCAAAGACTGAGAATGAAAGCCCAGAGAGGAAGGAAAAGCCACACATACAATCAGTACAGCTCCATCTGAATAAAGGTAGCGCCCCCCCCCCCCCCAAATCATTAGAGAAATGCCTGAATCGTGTTTTCTGTTGATATTTCCTAAGCACCTAGATGTAGGGAATAGAAATAAATGGCTCCCTCTGTCTCATCCCCTTCCTGCCCTCTGAGAGGCAGCTGTGAATGCGTGCTTCCTTTCTGGGGGTGCAGATACTTTCTGGACCAACCCTCAGTACCGTCTGAAGCTCCTGGAGGAGG
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CAGATTGCGCCACTGCACTCCAGCCTGGGCGACAAGAGAGACTCTGTCTTGGAAAAAAAAAAAAAAATGTTGTCTTAGTATAATGTCAAGGGAAAGGTTTTTTGTGTTTTTATTACTTTATTTTTTATTTAAAAACTATAATAGAGACGGGCCTCGCTATATTTCTCGGGCTGGTCTCAAACTCCTGGGCTCAAGCGGTCCTCCCACCTTGGCCTCCCAAAATGCTGGCATGTGGGCCTGGTCAACATATGGGACCCCAACTCTACAAAAAATTTTAAAATTAGCCAGATGTGGTGGCGTGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAAGCAGGGGGTCACTTGAGCCCAGGAGGTTGAGGCTGCAGTGAACTATGATTGTACCACTGCAGTCCATCCTGGGCAACAGAGCAAGACACTGTCTTAAAAAAAAAGTGCTGGGATTACAGATGTAAGCCACCACACCTGGCCTTCTATTTTTTATGGATATATCATAGCTATATATATTTTTGGGGTACATATGTACCCATATTTTGGGGGTACATATGTACCCATATTTTGGGGGTACATATGATATTTTGATACACATATACAATGTGTAATGATCAAATTAGGGTAATTGAGATACCATCATCTCAAATATGTATCTTTTCTTTGTGTTGGGAACATTACAATTCTTTTCCTCTAGTTATTTTGAAAGATATATAGGCTGGGCGTGGTGGCTTATGCCTGTAATCCCAGCACCTTGGGAGGCTGAGGCGGGCAGATCACTTGAGGTCAGAAGTTCAAGACTAGCCTGGTCAACATGGTGAAACCCCATCTCTACAAAAATACAAAAATTAGCCAGGTGTGGTGGTGTGCACCTGTAATCCCAGCTGCTCAGCTGGCTGAGGCAGGAGAATCCCTTGACCTCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCAACAGAGCGAGACTCTGTCTCAAAAAATACACACACACACACACACACACACACACACACACACACACACACATATATATACACACATATATATACACACACATATACACACACACACGTCTGTATATATATGTGTGTGTGTATATATACACACACACACTATACTATAAATTCTTGTTTAGCTATGTTTGTCTTACTGTGCTATTGAGCATTAGAGCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTTTGTCGCCCAGGCTGGCATACAATGGCGCAATATCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAACTAGGATTACAAGTGCCCGCCATAATGCTCAGCTAATTTTTGTATTTTCAGTAGAGATGGGGTTTCACCATGTTGGCCAAGCTGGTCTCAAACTCCTAGCCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACAGCACCCTGGTGAGCACTAGAGCTTATTTCTTCTATCTAACTGTATTTTTGTATCCATTAGCCACCCTCTTTTCATCCTCCCCTCTCCTTCCCTTCCCAGCCTCTGGTAACCACTGTCTGCTCTCTACTTCCATGACATATGCTTTGTTTTAGCTCTCACATATGAGTGAGAGCATGCGACATTTATCTTTCTGGCCCTGGCACATTTTTGAATCATTGTTAGAAAAGATGATGGTTTGGAGTAGATACATCAGAAGTGACAGCGTTTGCCCTAAAAAGGAAAGACAGGCTCCTCTGGGACCCTGACCAAGTTCCTGTGAACTATTTTATTATTGTGCTGTGTTAGTCCTGGGGTCTTCCGTTCCCAGCCCTCCTCACCTGCTCCCATATGGCTCTCTCTCTTCTTCCAACCTCTCAGGATGTCCTATGAGGATTTCATCTACCATTTCACAAAGTTGGAGATCTGCAACCTCACGGCCGATGCTCTGCAGTCTGACAAGCTTCAGACCTGGACAGTGTCTGTGAACGAGGGCCGCTGGGTACGGGGTTGCTCTGCCGGAGGCTGCCTCAACTTCCCAGGTGGGAGATGCTCTTGATGGGGGGAGGGTCTAAGCCGAAAAAGTTCCAGGCAGAAGAAGCCTAACTAGTGCTTATTAAGTCTCTCTGTTCCAGACGTCCACTATCTTATTAAACCTTCCCTGTTTTACTGAGAAGGAAACCACCATGCTGAGAAGTTTGCAATAGGGAGCTGGTAGCAACTTTGAAGCAGGAAACTGTGGGAACAATGCAGATGCTGCTTGACTTACGATGAGGTTATGTCCAGATAAGCCCATCCATCTTTGAAAATACCCTAAGTGAAAAGTGCATTCAATATGCCTAACCCACCAAACATCATAGCTTAGCCTGGCCTACCTTAAACATGCTCGGAACACTGACCTTAGCCTAAAGTTGGGCAAAATCATCTAACTCAAAGCCTATTTTACAAGAAAGTGTTGAATATCTCATGTAACTTACTTAATACTGTACTAAAAGTGAAAAACAGAATGGTTGTACGGGTACTCGAAATCCAGTTTCTACTGAATGTGCATCTCTTTCACATTGTAAAGTTAAAAAATTGTAGCCGAACCATCCTAAGTCAGGGACTGTGAGTACTGTGTCAGTAACAGTAAGGGCACTATTGGAGAACCAAGTTAGCAGCTGCTGCAATAGTTCAAGTCAGAGATGATGAAAACCTAGACCAAGTCAGTAGCAGCAGAGATGGAGGGGAGACAGCAGATTTAGGGAGAGCATATTGGGTGATGTAGGGAAGGAAGAAGAATGATGTCAAGATTCCCAGTTGGGGACCTGACAACATTGCAACATAAGACACACAAGAAGATCGGGTGGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCAGAGCCAGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCACAGGCAACATAGTGACACCTCATCGTTACAAAAAATAAAAAAAAAAATGAGGTGGGAGGATTGCTTGAGCTCGGGAGGTTGAGGCTACAATAAACTGTGATCATGCCACTGCACTCCTGCCTGGGTGACAGAGTGAGACCCTGCCTCAAAAAAAAAAGACACACAAGAGAAAAATATCAGCGTGTTGTTTGTTTTTGGTGGAGTTAATTGTGGGGTTCTAGGGAAAGGAATTTAGCTTGGGACATGGAAAGTTTGAGGTTCCTGTAGAGTGTCCCAGTGAAGATTTGTAATAGAGCATCGGATGCGCATATTAGATGGCACTTGGTGATATGATAAGAACTCAAAAAATATTTGAGGAATAAAGGAAAGAAGAGGCCAGACGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCATCATGCGCGTGTAGGGGGCAGTTAAAAAGCAGAAGTAAGAAAGATTGCCTAGGGAGGCAGGAAGGGTGAGGTGAGAGGAGAAGAGGCCCAGGACCAGATTCTAGTCACCAACAGCGTTTAAGGGGCAGGTAAGGAAAACAAAACCATCAGCAAAGACTGAGAATGAAAGCCCAGAGAGGAAGGAAAAGCCACACATACAATCAGTACAGCTCCATCTGAATAAAGGTAGCGCCCCCCCCCCCCCCAAATCATTAGAGAAATGCCTGAATCGTGTTTTCTGTTGATATTTCCTAAGCACCTAGATGTAGGGAATAGAAATAAATGGCTCCCTCTGTCTCATCCCCTTCCTGCCCTCTGAGAGGCAGCTGTGAATGCGTGCTTCCTTTCTGGGGGTGCAGATACTTTCTGGACCAACCCTCAGTACCGTCTGAAGCTCCTGGAGGAGG
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Task1_train_20571
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A mutation on Chromosome 15 affecting CAPN3 (calpain 3) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Muscular dystrophy, limb-girdle, autosomal dominant 4
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CAGATTGCGCCACTGCACTCCAGCCTGGGCGACAAGAGAGACTCTGTCTTGGAAAAAAAAAAAAAAATGTTGTCTTAGTATAATGTCAAGGGAAAGGTTTTTTGTGTTTTTATTACTTTATTTTTTATTTAAAAACTATAATAGAGACGGGCCTCGCTATATTTCTCGGGCTGGTCTCAAACTCCTGGGCTCAAGCGGTCCTCCCACCTTGGCCTCCCAAAATGCTGGCATGTGGGCCTGGTCAACATATGGGACCCCAACTCTACAAAAAATTTTAAAATTAGCCAGATGTGGTGGCGTGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAAGCAGGGGGTCACTTGAGCCCAGGAGGTTGAGGCTGCAGTGAACTATGATTGTACCACTGCAGTCCATCCTGGGCAACAGAGCAAGACACTGTCTTAAAAAAAAAGTGCTGGGATTACAGATGTAAGCCACCACACCTGGCCTTCTATTTTTTATGGATATATCATAGCTATATATATTTTTGGGGTACATATGTACCCATATTTTGGGGGTACATATGTACCCATATTTTGGGGGTACATATGATATTTTGATACACATATACAATGTGTAATGATCAAATTAGGGTAATTGAGATACCATCATCTCAAATATGTATCTTTTCTTTGTGTTGGGAACATTACAATTCTTTTCCTCTAGTTATTTTGAAAGATATATAGGCTGGGCGTGGTGGCTTATGCCTGTAATCCCAGCACCTTGGGAGGCTGAGGCGGGCAGATCACTTGAGGTCAGAAGTTCAAGACTAGCCTGGTCAACATGGTGAAACCCCATCTCTACAAAAATACAAAAATTAGCCAGGTGTGGTGGTGTGCACCTGTAATCCCAGCTGCTCAGCTGGCTGAGGCAGGAGAATCCCTTGACCTCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCAACAGAGCGAGACTCTGTCTCAAAAAATACACACACACACACACACACACACACACACACACACACACACACATATATATACACACATATATATACACACACATATACACACACACACGTCTGTATATATATGTGTGTGTGTATATATACACACACACACTATACTATAAATTCTTGTTTAGCTATGTTTGTCTTACTGTGCTATTGAGCATTAGAGCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTTTGTCGCCCAGGCTGGCATACAATGGCGCAATATCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAACTAGGATTACAAGTGCCCGCCATAATGCTCAGCTAATTTTTGTATTTTCAGTAGAGATGGGGTTTCACCATGTTGGCCAAGCTGGTCTCAAACTCCTAGCCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACAGCACCCTGGTGAGCACTAGAGCTTATTTCTTCTATCTAACTGTATTTTTGTATCCATTAGCCACCCTCTTTTCATCCTCCCCTCTCCTTCCCTTCCCAGCCTCTGGTAACCACTGTCTGCTCTCTACTTCCATGACATATGCTTTGTTTTAGCTCTCACATATGAGTGAGAGCATGCGACATTTATCTTTCTGGCCCTGGCACATTTTTGAATCATTGTTAGAAAAGATGATGGTTTGGAGTAGATACATCAGAAGTGACAGCGTTTGCCCTAAAAAGGAAAGACAGGCTCCTCTGGGACCCTGACCAAGTTCCTGTGAACTATTTTATTATTGTGCTGTGTTAGTCCTGGGGTCTTCCGTTCCCAGCCCTCCTCACCTGCTCCCATATGGCTCTCTCTCTTCTTCCAACCTCTCAGGATGTCCTATGAGGATTTCATCTACCATTTCACAAAGTTGGAGATCTGCAACCTCACGGCCGATGCTCTGCAGTCTGACAAGCTTCAGACCTGGACAGTGTCTGTGAACGAGGGCCGCTGGGTACGGGGTTGCTCTGCCGGAGGCTGCCGCAACTTCCCAGGTGGGAGATGCTCTTGATGGGGGGAGGGTCTAAGCCGAAAAAGTTCCAGGCAGAAGAAGCCTAACTAGTGCTTATTAAGTCTCTCTGTTCCAGACGTCCACTATCTTATTAAACCTTCCCTGTTTTACTGAGAAGGAAACCACCATGCTGAGAAGTTTGCAATAGGGAGCTGGTAGCAACTTTGAAGCAGGAAACTGTGGGAACAATGCAGATGCTGCTTGACTTACGATGAGGTTATGTCCAGATAAGCCCATCCATCTTTGAAAATACCCTAAGTGAAAAGTGCATTCAATATGCCTAACCCACCAAACATCATAGCTTAGCCTGGCCTACCTTAAACATGCTCGGAACACTGACCTTAGCCTAAAGTTGGGCAAAATCATCTAACTCAAAGCCTATTTTACAAGAAAGTGTTGAATATCTCATGTAACTTACTTAATACTGTACTAAAAGTGAAAAACAGAATGGTTGTACGGGTACTCGAAATCCAGTTTCTACTGAATGTGCATCTCTTTCACATTGTAAAGTTAAAAAATTGTAGCCGAACCATCCTAAGTCAGGGACTGTGAGTACTGTGTCAGTAACAGTAAGGGCACTATTGGAGAACCAAGTTAGCAGCTGCTGCAATAGTTCAAGTCAGAGATGATGAAAACCTAGACCAAGTCAGTAGCAGCAGAGATGGAGGGGAGACAGCAGATTTAGGGAGAGCATATTGGGTGATGTAGGGAAGGAAGAAGAATGATGTCAAGATTCCCAGTTGGGGACCTGACAACATTGCAACATAAGACACACAAGAAGATCGGGTGGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCAGAGCCAGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCACAGGCAACATAGTGACACCTCATCGTTACAAAAAATAAAAAAAAAAATGAGGTGGGAGGATTGCTTGAGCTCGGGAGGTTGAGGCTACAATAAACTGTGATCATGCCACTGCACTCCTGCCTGGGTGACAGAGTGAGACCCTGCCTCAAAAAAAAAAGACACACAAGAGAAAAATATCAGCGTGTTGTTTGTTTTTGGTGGAGTTAATTGTGGGGTTCTAGGGAAAGGAATTTAGCTTGGGACATGGAAAGTTTGAGGTTCCTGTAGAGTGTCCCAGTGAAGATTTGTAATAGAGCATCGGATGCGCATATTAGATGGCACTTGGTGATATGATAAGAACTCAAAAAATATTTGAGGAATAAAGGAAAGAAGAGGCCAGACGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCATCATGCGCGTGTAGGGGGCAGTTAAAAAGCAGAAGTAAGAAAGATTGCCTAGGGAGGCAGGAAGGGTGAGGTGAGAGGAGAAGAGGCCCAGGACCAGATTCTAGTCACCAACAGCGTTTAAGGGGCAGGTAAGGAAAACAAAACCATCAGCAAAGACTGAGAATGAAAGCCCAGAGAGGAAGGAAAAGCCACACATACAATCAGTACAGCTCCATCTGAATAAAGGTAGCGCCCCCCCCCCCCCCAAATCATTAGAGAAATGCCTGAATCGTGTTTTCTGTTGATATTTCCTAAGCACCTAGATGTAGGGAATAGAAATAAATGGCTCCCTCTGTCTCATCCCCTTCCTGCCCTCTGAGAGGCAGCTGTGAATGCGTGCTTCCTTTCTGGGGGTGCAGATACTTTCTGGACCAACCCTCAGTACCGTCTGAAGCTCCTGGAGGAGG
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CAGATTGCGCCACTGCACTCCAGCCTGGGCGACAAGAGAGACTCTGTCTTGGAAAAAAAAAAAAAAATGTTGTCTTAGTATAATGTCAAGGGAAAGGTTTTTTGTGTTTTTATTACTTTATTTTTTATTTAAAAACTATAATAGAGACGGGCCTCGCTATATTTCTCGGGCTGGTCTCAAACTCCTGGGCTCAAGCGGTCCTCCCACCTTGGCCTCCCAAAATGCTGGCATGTGGGCCTGGTCAACATATGGGACCCCAACTCTACAAAAAATTTTAAAATTAGCCAGATGTGGTGGCGTGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAAGCAGGGGGTCACTTGAGCCCAGGAGGTTGAGGCTGCAGTGAACTATGATTGTACCACTGCAGTCCATCCTGGGCAACAGAGCAAGACACTGTCTTAAAAAAAAAGTGCTGGGATTACAGATGTAAGCCACCACACCTGGCCTTCTATTTTTTATGGATATATCATAGCTATATATATTTTTGGGGTACATATGTACCCATATTTTGGGGGTACATATGTACCCATATTTTGGGGGTACATATGATATTTTGATACACATATACAATGTGTAATGATCAAATTAGGGTAATTGAGATACCATCATCTCAAATATGTATCTTTTCTTTGTGTTGGGAACATTACAATTCTTTTCCTCTAGTTATTTTGAAAGATATATAGGCTGGGCGTGGTGGCTTATGCCTGTAATCCCAGCACCTTGGGAGGCTGAGGCGGGCAGATCACTTGAGGTCAGAAGTTCAAGACTAGCCTGGTCAACATGGTGAAACCCCATCTCTACAAAAATACAAAAATTAGCCAGGTGTGGTGGTGTGCACCTGTAATCCCAGCTGCTCAGCTGGCTGAGGCAGGAGAATCCCTTGACCTCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCAACAGAGCGAGACTCTGTCTCAAAAAATACACACACACACACACACACACACACACACACACACACACACACATATATATACACACATATATATACACACACATATACACACACACACGTCTGTATATATATGTGTGTGTGTATATATACACACACACACTATACTATAAATTCTTGTTTAGCTATGTTTGTCTTACTGTGCTATTGAGCATTAGAGCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTTTGTCGCCCAGGCTGGCATACAATGGCGCAATATCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAACTAGGATTACAAGTGCCCGCCATAATGCTCAGCTAATTTTTGTATTTTCAGTAGAGATGGGGTTTCACCATGTTGGCCAAGCTGGTCTCAAACTCCTAGCCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACAGCACCCTGGTGAGCACTAGAGCTTATTTCTTCTATCTAACTGTATTTTTGTATCCATTAGCCACCCTCTTTTCATCCTCCCCTCTCCTTCCCTTCCCAGCCTCTGGTAACCACTGTCTGCTCTCTACTTCCATGACATATGCTTTGTTTTAGCTCTCACATATGAGTGAGAGCATGCGACATTTATCTTTCTGGCCCTGGCACATTTTTGAATCATTGTTAGAAAAGATGATGGTTTGGAGTAGATACATCAGAAGTGACAGCGTTTGCCCTAAAAAGGAAAGACAGGCTCCTCTGGGACCCTGACCAAGTTCCTGTGAACTATTTTATTATTGTGCTGTGTTAGTCCTGGGGTCTTCCGTTCCCAGCCCTCCTCACCTGCTCCCATATGGCTCTCTCTCTTCTTCCAACCTCTCAGGATGTCCTATGAGGATTTCATCTACCATTTCACAAAGTTGGAGATCTGCAACCTCACGGCCGATGCTCTGCAGTCTGACAAGCTTCAGACCTGGACAGTGTCTGTGAACGAGGGCCGCTGGGTACGGGGTTGCTCTGCCGGAGGCTGCCTCAACTTCCCAGGTGGGAGATGCTCTTGATGGGGGGAGGGTCTAAGCCGAAAAAGTTCCAGGCAGAAGAAGCCTAACTAGTGCTTATTAAGTCTCTCTGTTCCAGACGTCCACTATCTTATTAAACCTTCCCTGTTTTACTGAGAAGGAAACCACCATGCTGAGAAGTTTGCAATAGGGAGCTGGTAGCAACTTTGAAGCAGGAAACTGTGGGAACAATGCAGATGCTGCTTGACTTACGATGAGGTTATGTCCAGATAAGCCCATCCATCTTTGAAAATACCCTAAGTGAAAAGTGCATTCAATATGCCTAACCCACCAAACATCATAGCTTAGCCTGGCCTACCTTAAACATGCTCGGAACACTGACCTTAGCCTAAAGTTGGGCAAAATCATCTAACTCAAAGCCTATTTTACAAGAAAGTGTTGAATATCTCATGTAACTTACTTAATACTGTACTAAAAGTGAAAAACAGAATGGTTGTACGGGTACTCGAAATCCAGTTTCTACTGAATGTGCATCTCTTTCACATTGTAAAGTTAAAAAATTGTAGCCGAACCATCCTAAGTCAGGGACTGTGAGTACTGTGTCAGTAACAGTAAGGGCACTATTGGAGAACCAAGTTAGCAGCTGCTGCAATAGTTCAAGTCAGAGATGATGAAAACCTAGACCAAGTCAGTAGCAGCAGAGATGGAGGGGAGACAGCAGATTTAGGGAGAGCATATTGGGTGATGTAGGGAAGGAAGAAGAATGATGTCAAGATTCCCAGTTGGGGACCTGACAACATTGCAACATAAGACACACAAGAAGATCGGGTGGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCAGAGCCAGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCACAGGCAACATAGTGACACCTCATCGTTACAAAAAATAAAAAAAAAAATGAGGTGGGAGGATTGCTTGAGCTCGGGAGGTTGAGGCTACAATAAACTGTGATCATGCCACTGCACTCCTGCCTGGGTGACAGAGTGAGACCCTGCCTCAAAAAAAAAAGACACACAAGAGAAAAATATCAGCGTGTTGTTTGTTTTTGGTGGAGTTAATTGTGGGGTTCTAGGGAAAGGAATTTAGCTTGGGACATGGAAAGTTTGAGGTTCCTGTAGAGTGTCCCAGTGAAGATTTGTAATAGAGCATCGGATGCGCATATTAGATGGCACTTGGTGATATGATAAGAACTCAAAAAATATTTGAGGAATAAAGGAAAGAAGAGGCCAGACGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCATCATGCGCGTGTAGGGGGCAGTTAAAAAGCAGAAGTAAGAAAGATTGCCTAGGGAGGCAGGAAGGGTGAGGTGAGAGGAGAAGAGGCCCAGGACCAGATTCTAGTCACCAACAGCGTTTAAGGGGCAGGTAAGGAAAACAAAACCATCAGCAAAGACTGAGAATGAAAGCCCAGAGAGGAAGGAAAAGCCACACATACAATCAGTACAGCTCCATCTGAATAAAGGTAGCGCCCCCCCCCCCCCCAAATCATTAGAGAAATGCCTGAATCGTGTTTTCTGTTGATATTTCCTAAGCACCTAGATGTAGGGAATAGAAATAAATGGCTCCCTCTGTCTCATCCCCTTCCTGCCCTCTGAGAGGCAGCTGTGAATGCGTGCTTCCTTTCTGGGGGTGCAGATACTTTCTGGACCAACCCTCAGTACCGTCTGAAGCTCCTGGAGGAGG
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Task1_train_20572
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Given this context: Chromosome 15, gene CAPN3, LOC130056921 (calpain 3| ATAC-STARR-seq lymphoblastoid active region 9300) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2A
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GAGGGCCGCTGGGTACGGGGTTGCTCTGCCGGAGGCTGCCGCAACTTCCCAGGTGGGAGATGCTCTTGATGGGGGGAGGGTCTAAGCCGAAAAAGTTCCAGGCAGAAGAAGCCTAACTAGTGCTTATTAAGTCTCTCTGTTCCAGACGTCCACTATCTTATTAAACCTTCCCTGTTTTACTGAGAAGGAAACCACCATGCTGAGAAGTTTGCAATAGGGAGCTGGTAGCAACTTTGAAGCAGGAAACTGTGGGAACAATGCAGATGCTGCTTGACTTACGATGAGGTTATGTCCAGATAAGCCCATCCATCTTTGAAAATACCCTAAGTGAAAAGTGCATTCAATATGCCTAACCCACCAAACATCATAGCTTAGCCTGGCCTACCTTAAACATGCTCGGAACACTGACCTTAGCCTAAAGTTGGGCAAAATCATCTAACTCAAAGCCTATTTTACAAGAAAGTGTTGAATATCTCATGTAACTTACTTAATACTGTACTAAAAGTGAAAAACAGAATGGTTGTACGGGTACTCGAAATCCAGTTTCTACTGAATGTGCATCTCTTTCACATTGTAAAGTTAAAAAATTGTAGCCGAACCATCCTAAGTCAGGGACTGTGAGTACTGTGTCAGTAACAGTAAGGGCACTATTGGAGAACCAAGTTAGCAGCTGCTGCAATAGTTCAAGTCAGAGATGATGAAAACCTAGACCAAGTCAGTAGCAGCAGAGATGGAGGGGAGACAGCAGATTTAGGGAGAGCATATTGGGTGATGTAGGGAAGGAAGAAGAATGATGTCAAGATTCCCAGTTGGGGACCTGACAACATTGCAACATAAGACACACAAGAAGATCGGGTGGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCAGAGCCAGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCACAGGCAACATAGTGACACCTCATCGTTACAAAAAATAAAAAAAAAAATGAGGTGGGAGGATTGCTTGAGCTCGGGAGGTTGAGGCTACAATAAACTGTGATCATGCCACTGCACTCCTGCCTGGGTGACAGAGTGAGACCCTGCCTCAAAAAAAAAAGACACACAAGAGAAAAATATCAGCGTGTTGTTTGTTTTTGGTGGAGTTAATTGTGGGGTTCTAGGGAAAGGAATTTAGCTTGGGACATGGAAAGTTTGAGGTTCCTGTAGAGTGTCCCAGTGAAGATTTGTAATAGAGCATCGGATGCGCATATTAGATGGCACTTGGTGATATGATAAGAACTCAAAAAATATTTGAGGAATAAAGGAAAGAAGAGGCCAGACGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCATCATGCGCGTGTAGGGGGCAGTTAAAAAGCAGAAGTAAGAAAGATTGCCTAGGGAGGCAGGAAGGGTGAGGTGAGAGGAGAAGAGGCCCAGGACCAGATTCTAGTCACCAACAGCGTTTAAGGGGCAGGTAAGGAAAACAAAACCATCAGCAAAGACTGAGAATGAAAGCCCAGAGAGGAAGGAAAAGCCACACATACAATCAGTACAGCTCCATCTGAATAAAGGTAGCGCCCCCCCCCCCCCCAAATCATTAGAGAAATGCCTGAATCGTGTTTTCTGTTGATATTTCCTAAGCACCTAGATGTAGGGAATAGAAATAAATGGCTCCCTCTGTCTCATCCCCTTCCTGCCCTCTGAGAGGCAGCTGTGAATGCGTGCTTCCTTTCTGGGGGTGCAGATACTTTCTGGACCAACCCTCAGTACCGTCTGAAGCTCCTGGAGGAGGACGATGACCCTGATGACTCGGAGGTGATTTGCAGCTTCCTGGTGGCCCTGATGCAGAAGAACCGGCGGAAGGACCGGAAGCTAGGGGCCAGTCTCTTCACCATTGGCTTCGCCATCTACGAGGTGTGCAGTCCTGATTGGCTCCAGCCCAGGAAACATACTTTCCCAGGGAGGACGCTTCCAGGGGCTTCTAGAGGGGCCCTCTGGCTTCCTCAATACCCAGTGACCCACAGAGCTCCTGGTATCAGGACCACTTGTGTTTGTAACAAGCAAAAAATACCAGGGGGGGCATTAGAGAGGCAGTGGAGCGGGCCTGGCAGAACAGGTGCCTGGGGGTCAGGCTTCCGCATGCGGGCTGCAGTTGCTGGCATTGCCTTCCGCAGGCTCCTCATCCTCATTCACATCTGAAGCATCTTCCTTTCTGTTTCTTCTCAAGGTTCCCAAAGAGGTATAGCAGCAGCAGCGGCCAGCAGTTGTGTGCAGCACTACCCAGGGGGCCCCGAGTCTGTCTGTGGCTCGTCGAGAAGCTTCCTGGTGGGGTTTGTGGGCAGGACTGTGATAGGAGAGGGCCTTGCCTGTGTTATTTCCACTGCAGAGCAGGTGCCTCAGGGCATTGCATGACCCATGACTACCACCCCCAGGATGTGCACTTTCTCCCTCGCACCAGACACTGCACGTCACACACATGCCTTTGCACACTCACCCTCCTCCACGCTTACAGCCACACACACAGTCACACAGACGCGTTCTGAGGGTGGCTGCCCGCTTGGGATGGAGGAATCACTTCCCTCAGAACCCAGCCAAGTCCTCTAGGCCTCCTTGGGGGTCCTTCCAGCCTGAGGGGCTTCGGAGCTGAGGAGCAGCTGTTCTGGTAAGTGTCCCTGAGTGTGGGGATGACACATTTGCCATTCACTCTGAATCACAACAGAAAAGGAAGAGGAAGTGAGGTAGGGAGGCTATTTAAGCCTTGGGAGTCGGAAGTAGGGAGGTTGAAACTGTGACATGGGTGACCAGGGAGTTGGGAAGGGACCCTTGGAGGTGGCTGTGGCAGGACAGGATGTTCCTCCCGAGGGGCTCATGTGCCCTGGGCTCTCCCCATCTCTCAGATGCACGGGAACAAGCAGCACCTGCAGAAGGACTTCTTCCTGTACAACGCCTCCAAGGCCAGGAGCAAAACCTACATCAACATGCGGGAGGTGTCCCAGCGCTTCCGCCTGCCTCCCAGCGAGTACGTCATCGTGCCCTCCACCTACGAGCCCCACCAGGAGGGGGAATTCATCCTCCGGGTCTTCTCTGAAAAGAGGAACCTCTCTGAGTGAGTGCTGGCCCAGCTTTCCCACGTGTTTCTAAAAGCTCACATGGCCCACTCCAGAGGTTGAAGGCATGAGGCAGCTAGACACGTCTCCTCCAGGGTCCTTCTGCTGCTCCTGAGCCACTGGCCACATTACCCCCATTCATTCATTCATCCATTCTGTGATATTTATTGAGCACCTACTATGTTCCAGGCACTGTCCTAGGCACTAAGGATAGAGTAGTGAAGTAAACAGAAAGAAATCCCTGCCTTCATGGAGCTTAATATTCTAACATGAGACAATAATGGATAGGAAAAACATATGTAGCATGTTAGATTTGGAGAGGTGATATGGAGCAAAAATAAAGTAGGGAAGAGGGATAGGAGGTGTTGGGGATGCTTGAAATTTTAGGTTAGCATGGCCAGGAAAGCCACATCCTGTCCCTGGCCACCACAGATGAGCTCATAGCCCCTGCCACTCTGATCTCTGTCCTTGGAAGATGCACCAGGTCCATGGGTAGGTGGCTGGGTCATGCCTTTGGGGGGCTCTGAGCAATACTAACAAGAACCTGCGTGCCTGGGCTTGGCTGTCGGGGATGGTGCTGACATGGGGCTGGTTCCTGGGGTTGGGGTGTTCCAGGGGTTCTCTAGAGGCTGGTTCTGGCTTGGCTGCCAGGAAGCCGTGCACCAGAGCAAACCGTCCACGGGCCTCCTGCTT
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GAGGGCCGCTGGGTACGGGGTTGCTCTGCCGGAGGCTGCCGCAACTTCCCAGGTGGGAGATGCTCTTGATGGGGGGAGGGTCTAAGCCGAAAAAGTTCCAGGCAGAAGAAGCCTAACTAGTGCTTATTAAGTCTCTCTGTTCCAGACGTCCACTATCTTATTAAACCTTCCCTGTTTTACTGAGAAGGAAACCACCATGCTGAGAAGTTTGCAATAGGGAGCTGGTAGCAACTTTGAAGCAGGAAACTGTGGGAACAATGCAGATGCTGCTTGACTTACGATGAGGTTATGTCCAGATAAGCCCATCCATCTTTGAAAATACCCTAAGTGAAAAGTGCATTCAATATGCCTAACCCACCAAACATCATAGCTTAGCCTGGCCTACCTTAAACATGCTCGGAACACTGACCTTAGCCTAAAGTTGGGCAAAATCATCTAACTCAAAGCCTATTTTACAAGAAAGTGTTGAATATCTCATGTAACTTACTTAATACTGTACTAAAAGTGAAAAACAGAATGGTTGTACGGGTACTCGAAATCCAGTTTCTACTGAATGTGCATCTCTTTCACATTGTAAAGTTAAAAAATTGTAGCCGAACCATCCTAAGTCAGGGACTGTGAGTACTGTGTCAGTAACAGTAAGGGCACTATTGGAGAACCAAGTTAGCAGCTGCTGCAATAGTTCAAGTCAGAGATGATGAAAACCTAGACCAAGTCAGTAGCAGCAGAGATGGAGGGGAGACAGCAGATTTAGGGAGAGCATATTGGGTGATGTAGGGAAGGAAGAAGAATGATGTCAAGATTCCCAGTTGGGGACCTGACAACATTGCAACATAAGACACACAAGAAGATCGGGTGGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCAGAGCCAGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCACAGGCAACATAGTGACACCTCATCGTTACAAAAAATAAAAAAAAAAATGAGGTGGGAGGATTGCTTGAGCTCGGGAGGTTGAGGCTACAATAAACTGTGATCATGCCACTGCACTCCTGCCTGGGTGACAGAGTGAGACCCTGCCTCAAAAAAAAAAGACACACAAGAGAAAAATATCAGCGTGTTGTTTGTTTTTGGTGGAGTTAATTGTGGGGTTCTAGGGAAAGGAATTTAGCTTGGGACATGGAAAGTTTGAGGTTCCTGTAGAGTGTCCCAGTGAAGATTTGTAATAGAGCATCGGATGCGCATATTAGATGGCACTTGGTGATATGATAAGAACTCAAAAAATATTTGAGGAATAAAGGAAAGAAGAGGCCAGACGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCATCATGCGCGTGTAGGGGGCAGTTAAAAAGCAGAAGTAAGAAAGATTGCCTAGGGAGGCAGGAAGGGTGAGGTGAGAGGAGAAGAGGCCCAGGACCAGATTCTAGTCACCAACAGCGTTTAAGGGGCAGGTAAGGAAAACAAAACCATCAGCAAAGACTGAGAATGAAAGCCCAGAGAGGAAGGAAAAGCCACACATACAATCAGTACAGCTCCATCTGAATAAAGGTAGCGCCCCCCCCCCCCCCAAATCATTAGAGAAATGCCTGAATCGTGTTTTCTGTTGATATTTCCTAAGCACCTAGATGTAGGGAATAGAAATAAATGGCTCCCTCTGTCTCATCCCCTTCCTGCCCTCTGAGAGGCAGCTGTGAATGCGTGCTTCCTTTCTGGGGGTGCAGATACTTTCCGGACCAACCCTCAGTACCGTCTGAAGCTCCTGGAGGAGGACGATGACCCTGATGACTCGGAGGTGATTTGCAGCTTCCTGGTGGCCCTGATGCAGAAGAACCGGCGGAAGGACCGGAAGCTAGGGGCCAGTCTCTTCACCATTGGCTTCGCCATCTACGAGGTGTGCAGTCCTGATTGGCTCCAGCCCAGGAAACATACTTTCCCAGGGAGGACGCTTCCAGGGGCTTCTAGAGGGGCCCTCTGGCTTCCTCAATACCCAGTGACCCACAGAGCTCCTGGTATCAGGACCACTTGTGTTTGTAACAAGCAAAAAATACCAGGGGGGGCATTAGAGAGGCAGTGGAGCGGGCCTGGCAGAACAGGTGCCTGGGGGTCAGGCTTCCGCATGCGGGCTGCAGTTGCTGGCATTGCCTTCCGCAGGCTCCTCATCCTCATTCACATCTGAAGCATCTTCCTTTCTGTTTCTTCTCAAGGTTCCCAAAGAGGTATAGCAGCAGCAGCGGCCAGCAGTTGTGTGCAGCACTACCCAGGGGGCCCCGAGTCTGTCTGTGGCTCGTCGAGAAGCTTCCTGGTGGGGTTTGTGGGCAGGACTGTGATAGGAGAGGGCCTTGCCTGTGTTATTTCCACTGCAGAGCAGGTGCCTCAGGGCATTGCATGACCCATGACTACCACCCCCAGGATGTGCACTTTCTCCCTCGCACCAGACACTGCACGTCACACACATGCCTTTGCACACTCACCCTCCTCCACGCTTACAGCCACACACACAGTCACACAGACGCGTTCTGAGGGTGGCTGCCCGCTTGGGATGGAGGAATCACTTCCCTCAGAACCCAGCCAAGTCCTCTAGGCCTCCTTGGGGGTCCTTCCAGCCTGAGGGGCTTCGGAGCTGAGGAGCAGCTGTTCTGGTAAGTGTCCCTGAGTGTGGGGATGACACATTTGCCATTCACTCTGAATCACAACAGAAAAGGAAGAGGAAGTGAGGTAGGGAGGCTATTTAAGCCTTGGGAGTCGGAAGTAGGGAGGTTGAAACTGTGACATGGGTGACCAGGGAGTTGGGAAGGGACCCTTGGAGGTGGCTGTGGCAGGACAGGATGTTCCTCCCGAGGGGCTCATGTGCCCTGGGCTCTCCCCATCTCTCAGATGCACGGGAACAAGCAGCACCTGCAGAAGGACTTCTTCCTGTACAACGCCTCCAAGGCCAGGAGCAAAACCTACATCAACATGCGGGAGGTGTCCCAGCGCTTCCGCCTGCCTCCCAGCGAGTACGTCATCGTGCCCTCCACCTACGAGCCCCACCAGGAGGGGGAATTCATCCTCCGGGTCTTCTCTGAAAAGAGGAACCTCTCTGAGTGAGTGCTGGCCCAGCTTTCCCACGTGTTTCTAAAAGCTCACATGGCCCACTCCAGAGGTTGAAGGCATGAGGCAGCTAGACACGTCTCCTCCAGGGTCCTTCTGCTGCTCCTGAGCCACTGGCCACATTACCCCCATTCATTCATTCATCCATTCTGTGATATTTATTGAGCACCTACTATGTTCCAGGCACTGTCCTAGGCACTAAGGATAGAGTAGTGAAGTAAACAGAAAGAAATCCCTGCCTTCATGGAGCTTAATATTCTAACATGAGACAATAATGGATAGGAAAAACATATGTAGCATGTTAGATTTGGAGAGGTGATATGGAGCAAAAATAAAGTAGGGAAGAGGGATAGGAGGTGTTGGGGATGCTTGAAATTTTAGGTTAGCATGGCCAGGAAAGCCACATCCTGTCCCTGGCCACCACAGATGAGCTCATAGCCCCTGCCACTCTGATCTCTGTCCTTGGAAGATGCACCAGGTCCATGGGTAGGTGGCTGGGTCATGCCTTTGGGGGGCTCTGAGCAATACTAACAAGAACCTGCGTGCCTGGGCTTGGCTGTCGGGGATGGTGCTGACATGGGGCTGGTTCCTGGGGTTGGGGTGTTCCAGGGGTTCTCTAGAGGCTGGTTCTGGCTTGGCTGCCAGGAAGCCGTGCACCAGAGCAAACCGTCCACGGGCCTCCTGCTT
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Task1_train_20573
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Located on Chromosome 15, this mutation impacts CAPN3 (calpain 3). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2A
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GCCGAAAAAGTTCCAGGCAGAAGAAGCCTAACTAGTGCTTATTAAGTCTCTCTGTTCCAGACGTCCACTATCTTATTAAACCTTCCCTGTTTTACTGAGAAGGAAACCACCATGCTGAGAAGTTTGCAATAGGGAGCTGGTAGCAACTTTGAAGCAGGAAACTGTGGGAACAATGCAGATGCTGCTTGACTTACGATGAGGTTATGTCCAGATAAGCCCATCCATCTTTGAAAATACCCTAAGTGAAAAGTGCATTCAATATGCCTAACCCACCAAACATCATAGCTTAGCCTGGCCTACCTTAAACATGCTCGGAACACTGACCTTAGCCTAAAGTTGGGCAAAATCATCTAACTCAAAGCCTATTTTACAAGAAAGTGTTGAATATCTCATGTAACTTACTTAATACTGTACTAAAAGTGAAAAACAGAATGGTTGTACGGGTACTCGAAATCCAGTTTCTACTGAATGTGCATCTCTTTCACATTGTAAAGTTAAAAAATTGTAGCCGAACCATCCTAAGTCAGGGACTGTGAGTACTGTGTCAGTAACAGTAAGGGCACTATTGGAGAACCAAGTTAGCAGCTGCTGCAATAGTTCAAGTCAGAGATGATGAAAACCTAGACCAAGTCAGTAGCAGCAGAGATGGAGGGGAGACAGCAGATTTAGGGAGAGCATATTGGGTGATGTAGGGAAGGAAGAAGAATGATGTCAAGATTCCCAGTTGGGGACCTGACAACATTGCAACATAAGACACACAAGAAGATCGGGTGGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCAGAGCCAGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCACAGGCAACATAGTGACACCTCATCGTTACAAAAAATAAAAAAAAAAATGAGGTGGGAGGATTGCTTGAGCTCGGGAGGTTGAGGCTACAATAAACTGTGATCATGCCACTGCACTCCTGCCTGGGTGACAGAGTGAGACCCTGCCTCAAAAAAAAAAGACACACAAGAGAAAAATATCAGCGTGTTGTTTGTTTTTGGTGGAGTTAATTGTGGGGTTCTAGGGAAAGGAATTTAGCTTGGGACATGGAAAGTTTGAGGTTCCTGTAGAGTGTCCCAGTGAAGATTTGTAATAGAGCATCGGATGCGCATATTAGATGGCACTTGGTGATATGATAAGAACTCAAAAAATATTTGAGGAATAAAGGAAAGAAGAGGCCAGACGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCATCATGCGCGTGTAGGGGGCAGTTAAAAAGCAGAAGTAAGAAAGATTGCCTAGGGAGGCAGGAAGGGTGAGGTGAGAGGAGAAGAGGCCCAGGACCAGATTCTAGTCACCAACAGCGTTTAAGGGGCAGGTAAGGAAAACAAAACCATCAGCAAAGACTGAGAATGAAAGCCCAGAGAGGAAGGAAAAGCCACACATACAATCAGTACAGCTCCATCTGAATAAAGGTAGCGCCCCCCCCCCCCCCAAATCATTAGAGAAATGCCTGAATCGTGTTTTCTGTTGATATTTCCTAAGCACCTAGATGTAGGGAATAGAAATAAATGGCTCCCTCTGTCTCATCCCCTTCCTGCCCTCTGAGAGGCAGCTGTGAATGCGTGCTTCCTTTCTGGGGGTGCAGATACTTTCTGGACCAACCCTCAGTACCGTCTGAAGCTCCTGGAGGAGGACGATGACCCTGATGACTCGGAGGTGATTTGCAGCTTCCTGGTGGCCCTGATGCAGAAGAACCGGCGGAAGGACCGGAAGCTAGGGGCCAGTCTCTTCACCATTGGCTTCGCCATCTACGAGGTGTGCAGTCCTGATTGGCTCCAGCCCAGGAAACATACTTTCCCAGGGAGGACGCTTCCAGGGGCTTCTAGAGGGGCCCTCTGGCTTCCTCAATACCCAGTGACCCACAGAGCTCCTGGTATCAGGACCACTTGTGTTTGTAACAAGCAAAAAATACCAGGGGGGGCATTAGAGAGGCAGTGGAGCGGGCCTGGCAGAACAGGTGCCTGGGGGTCAGGCTTCCGCATGCGGGCTGCAGTTGCTGGCATTGCCTTCCGCAGGCTCCTCATCCTCATTCACATCTGAAGCATCTTCCTTTCTGTTTCTTCTCAAGGTTCCCAAAGAGGTATAGCAGCAGCAGCGGCCAGCAGTTGTGTGCAGCACTACCCAGGGGGCCCCGAGTCTGTCTGTGGCTCGTCGAGAAGCTTCCTGGTGGGGTTTGTGGGCAGGACTGTGATAGGAGAGGGCCTTGCCTGTGTTATTTCCACTGCAGAGCAGGTGCCTCAGGGCATTGCATGACCCATGACTACCACCCCCAGGATGTGCACTTTCTCCCTCGCACCAGACACTGCACGTCACACACATGCCTTTGCACACTCACCCTCCTCCACGCTTACAGCCACACACACAGTCACACAGACGCGTTCTGAGGGTGGCTGCCCGCTTGGGATGGAGGAATCACTTCCCTCAGAACCCAGCCAAGTCCTCTAGGCCTCCTTGGGGGTCCTTCCAGCCTGAGGGGCTTCGGAGCTGAGGAGCAGCTGTTCTGGTAAGTGTCCCTGAGTGTGGGGATGACACATTTGCCATTCACTCTGAATCACAACAGAAAAGGAAGAGGAAGTGAGGTAGGGAGGCTATTTAAGCCTTGGGAGTCGGAAGTAGGGAGGTTGAAACTGTGACATGGGTGACCAGGGAGTTGGGAAGGGACCCTTGGAGGTGGCTGTGGCAGGACAGGATGTTCCTCCCGAGGGGCTCATGTGCCCTGGGCTCTCCCCATCTCTCAGATGCACGGGAACAAGCAGCACCTGCAGAAGGACTTCTTCCTGTACAACGCCTCCAAGGCCAGGAGCAAAACCTACATCAACATGCGGGAGGTGTCCCAGCGCTTCCGCCTGCCTCCCAGCGAGTACGTCATCGTGCCCTCCACCTACGAGCCCCACCAGGAGGGGGAATTCATCCTCCGGGTCTTCTCTGAAAAGAGGAACCTCTCTGAGTGAGTGCTGGCCCAGCTTTCCCACGTGTTTCTAAAAGCTCACATGGCCCACTCCAGAGGTTGAAGGCATGAGGCAGCTAGACACGTCTCCTCCAGGGTCCTTCTGCTGCTCCTGAGCCACTGGCCACATTACCCCCATTCATTCATTCATCCATTCTGTGATATTTATTGAGCACCTACTATGTTCCAGGCACTGTCCTAGGCACTAAGGATAGAGTAGTGAAGTAAACAGAAAGAAATCCCTGCCTTCATGGAGCTTAATATTCTAACATGAGACAATAATGGATAGGAAAAACATATGTAGCATGTTAGATTTGGAGAGGTGATATGGAGCAAAAATAAAGTAGGGAAGAGGGATAGGAGGTGTTGGGGATGCTTGAAATTTTAGGTTAGCATGGCCAGGAAAGCCACATCCTGTCCCTGGCCACCACAGATGAGCTCATAGCCCCTGCCACTCTGATCTCTGTCCTTGGAAGATGCACCAGGTCCATGGGTAGGTGGCTGGGTCATGCCTTTGGGGGGCTCTGAGCAATACTAACAAGAACCTGCGTGCCTGGGCTTGGCTGTCGGGGATGGTGCTGACATGGGGCTGGTTCCTGGGGTTGGGGTGTTCCAGGGGTTCTCTAGAGGCTGGTTCTGGCTTGGCTGCCAGGAAGCCGTGCACCAGAGCAAACCGTCCACGGGCCTCCTGCTTGCTTCTGGTGACACTGAGACCCCACATGTCTGTATTCCTCACAGGGAAGTTGAAAATACCATCTCCGTGGATCGGCCAGTGGTGA
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GCCGAAAAAGTTCCAGGCAGAAGAAGCCTAACTAGTGCTTATTAAGTCTCTCTGTTCCAGACGTCCACTATCTTATTAAACCTTCCCTGTTTTACTGAGAAGGAAACCACCATGCTGAGAAGTTTGCAATAGGGAGCTGGTAGCAACTTTGAAGCAGGAAACTGTGGGAACAATGCAGATGCTGCTTGACTTACGATGAGGTTATGTCCAGATAAGCCCATCCATCTTTGAAAATACCCTAAGTGAAAAGTGCATTCAATATGCCTAACCCACCAAACATCATAGCTTAGCCTGGCCTACCTTAAACATGCTCGGAACACTGACCTTAGCCTAAAGTTGGGCAAAATCATCTAACTCAAAGCCTATTTTACAAGAAAGTGTTGAATATCTCATGTAACTTACTTAATACTGTACTAAAAGTGAAAAACAGAATGGTTGTACGGGTACTCGAAATCCAGTTTCTACTGAATGTGCATCTCTTTCACATTGTAAAGTTAAAAAATTGTAGCCGAACCATCCTAAGTCAGGGACTGTGAGTACTGTGTCAGTAACAGTAAGGGCACTATTGGAGAACCAAGTTAGCAGCTGCTGCAATAGTTCAAGTCAGAGATGATGAAAACCTAGACCAAGTCAGTAGCAGCAGAGATGGAGGGGAGACAGCAGATTTAGGGAGAGCATATTGGGTGATGTAGGGAAGGAAGAAGAATGATGTCAAGATTCCCAGTTGGGGACCTGACAACATTGCAACATAAGACACACAAGAAGATCGGGTGGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCAGAGCCAGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCACAGGCAACATAGTGACACCTCATCGTTACAAAAAATAAAAAAAAAAATGAGGTGGGAGGATTGCTTGAGCTCGGGAGGTTGAGGCTACAATAAACTGTGATCATGCCACTGCACTCCTGCCTGGGTGACAGAGTGAGACCCTGCCTCAAAAAAAAAAGACACACAAGAGAAAAATATCAGCGTGTTGTTTGTTTTTGGTGGAGTTAATTGTGGGGTTCTAGGGAAAGGAATTTAGCTTGGGACATGGAAAGTTTGAGGTTCCTGTAGAGTGTCCCAGTGAAGATTTGTAATAGAGCATCGGATGCGCATATTAGATGGCACTTGGTGATATGATAAGAACTCAAAAAATATTTGAGGAATAAAGGAAAGAAGAGGCCAGACGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCATCATGCGCGTGTAGGGGGCAGTTAAAAAGCAGAAGTAAGAAAGATTGCCTAGGGAGGCAGGAAGGGTGAGGTGAGAGGAGAAGAGGCCCAGGACCAGATTCTAGTCACCAACAGCGTTTAAGGGGCAGGTAAGGAAAACAAAACCATCAGCAAAGACTGAGAATGAAAGCCCAGAGAGGAAGGAAAAGCCACACATACAATCAGTACAGCTCCATCTGAATAAAGGTAGCGCCCCCCCCCCCCCCAAATCATTAGAGAAATGCCTGAATCGTGTTTTCTGTTGATATTTCCTAAGCACCTAGATGTAGGGAATAGAAATAAATGGCTCCCTCTGTCTCATCCCCTTCCTGCCCTCTGAGAGGCAGCTGTGAATGCGTGCTTCCTTTCTGGGGGTGCAGATACTTTCTGGACCAACCCTCAGTACCGTCTGAAGCTCCTGGAGGAGGACGATGACCCTGATGACTCGGAGGTGATTTGCAGCTTCCTGGTGGACCTGATGCAGAAGAACCGGCGGAAGGACCGGAAGCTAGGGGCCAGTCTCTTCACCATTGGCTTCGCCATCTACGAGGTGTGCAGTCCTGATTGGCTCCAGCCCAGGAAACATACTTTCCCAGGGAGGACGCTTCCAGGGGCTTCTAGAGGGGCCCTCTGGCTTCCTCAATACCCAGTGACCCACAGAGCTCCTGGTATCAGGACCACTTGTGTTTGTAACAAGCAAAAAATACCAGGGGGGGCATTAGAGAGGCAGTGGAGCGGGCCTGGCAGAACAGGTGCCTGGGGGTCAGGCTTCCGCATGCGGGCTGCAGTTGCTGGCATTGCCTTCCGCAGGCTCCTCATCCTCATTCACATCTGAAGCATCTTCCTTTCTGTTTCTTCTCAAGGTTCCCAAAGAGGTATAGCAGCAGCAGCGGCCAGCAGTTGTGTGCAGCACTACCCAGGGGGCCCCGAGTCTGTCTGTGGCTCGTCGAGAAGCTTCCTGGTGGGGTTTGTGGGCAGGACTGTGATAGGAGAGGGCCTTGCCTGTGTTATTTCCACTGCAGAGCAGGTGCCTCAGGGCATTGCATGACCCATGACTACCACCCCCAGGATGTGCACTTTCTCCCTCGCACCAGACACTGCACGTCACACACATGCCTTTGCACACTCACCCTCCTCCACGCTTACAGCCACACACACAGTCACACAGACGCGTTCTGAGGGTGGCTGCCCGCTTGGGATGGAGGAATCACTTCCCTCAGAACCCAGCCAAGTCCTCTAGGCCTCCTTGGGGGTCCTTCCAGCCTGAGGGGCTTCGGAGCTGAGGAGCAGCTGTTCTGGTAAGTGTCCCTGAGTGTGGGGATGACACATTTGCCATTCACTCTGAATCACAACAGAAAAGGAAGAGGAAGTGAGGTAGGGAGGCTATTTAAGCCTTGGGAGTCGGAAGTAGGGAGGTTGAAACTGTGACATGGGTGACCAGGGAGTTGGGAAGGGACCCTTGGAGGTGGCTGTGGCAGGACAGGATGTTCCTCCCGAGGGGCTCATGTGCCCTGGGCTCTCCCCATCTCTCAGATGCACGGGAACAAGCAGCACCTGCAGAAGGACTTCTTCCTGTACAACGCCTCCAAGGCCAGGAGCAAAACCTACATCAACATGCGGGAGGTGTCCCAGCGCTTCCGCCTGCCTCCCAGCGAGTACGTCATCGTGCCCTCCACCTACGAGCCCCACCAGGAGGGGGAATTCATCCTCCGGGTCTTCTCTGAAAAGAGGAACCTCTCTGAGTGAGTGCTGGCCCAGCTTTCCCACGTGTTTCTAAAAGCTCACATGGCCCACTCCAGAGGTTGAAGGCATGAGGCAGCTAGACACGTCTCCTCCAGGGTCCTTCTGCTGCTCCTGAGCCACTGGCCACATTACCCCCATTCATTCATTCATCCATTCTGTGATATTTATTGAGCACCTACTATGTTCCAGGCACTGTCCTAGGCACTAAGGATAGAGTAGTGAAGTAAACAGAAAGAAATCCCTGCCTTCATGGAGCTTAATATTCTAACATGAGACAATAATGGATAGGAAAAACATATGTAGCATGTTAGATTTGGAGAGGTGATATGGAGCAAAAATAAAGTAGGGAAGAGGGATAGGAGGTGTTGGGGATGCTTGAAATTTTAGGTTAGCATGGCCAGGAAAGCCACATCCTGTCCCTGGCCACCACAGATGAGCTCATAGCCCCTGCCACTCTGATCTCTGTCCTTGGAAGATGCACCAGGTCCATGGGTAGGTGGCTGGGTCATGCCTTTGGGGGGCTCTGAGCAATACTAACAAGAACCTGCGTGCCTGGGCTTGGCTGTCGGGGATGGTGCTGACATGGGGCTGGTTCCTGGGGTTGGGGTGTTCCAGGGGTTCTCTAGAGGCTGGTTCTGGCTTGGCTGCCAGGAAGCCGTGCACCAGAGCAAACCGTCCACGGGCCTCCTGCTTGCTTCTGGTGACACTGAGACCCCACATGTCTGTATTCCTCACAGGGAAGTTGAAAATACCATCTCCGTGGATCGGCCAGTGGTGA
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Task1_train_20574
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Given a variant located on Chromosome 15 and affecting CAPN3 (calpain 3), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2A
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GCCGAAAAAGTTCCAGGCAGAAGAAGCCTAACTAGTGCTTATTAAGTCTCTCTGTTCCAGACGTCCACTATCTTATTAAACCTTCCCTGTTTTACTGAGAAGGAAACCACCATGCTGAGAAGTTTGCAATAGGGAGCTGGTAGCAACTTTGAAGCAGGAAACTGTGGGAACAATGCAGATGCTGCTTGACTTACGATGAGGTTATGTCCAGATAAGCCCATCCATCTTTGAAAATACCCTAAGTGAAAAGTGCATTCAATATGCCTAACCCACCAAACATCATAGCTTAGCCTGGCCTACCTTAAACATGCTCGGAACACTGACCTTAGCCTAAAGTTGGGCAAAATCATCTAACTCAAAGCCTATTTTACAAGAAAGTGTTGAATATCTCATGTAACTTACTTAATACTGTACTAAAAGTGAAAAACAGAATGGTTGTACGGGTACTCGAAATCCAGTTTCTACTGAATGTGCATCTCTTTCACATTGTAAAGTTAAAAAATTGTAGCCGAACCATCCTAAGTCAGGGACTGTGAGTACTGTGTCAGTAACAGTAAGGGCACTATTGGAGAACCAAGTTAGCAGCTGCTGCAATAGTTCAAGTCAGAGATGATGAAAACCTAGACCAAGTCAGTAGCAGCAGAGATGGAGGGGAGACAGCAGATTTAGGGAGAGCATATTGGGTGATGTAGGGAAGGAAGAAGAATGATGTCAAGATTCCCAGTTGGGGACCTGACAACATTGCAACATAAGACACACAAGAAGATCGGGTGGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCAGAGCCAGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCACAGGCAACATAGTGACACCTCATCGTTACAAAAAATAAAAAAAAAAATGAGGTGGGAGGATTGCTTGAGCTCGGGAGGTTGAGGCTACAATAAACTGTGATCATGCCACTGCACTCCTGCCTGGGTGACAGAGTGAGACCCTGCCTCAAAAAAAAAAGACACACAAGAGAAAAATATCAGCGTGTTGTTTGTTTTTGGTGGAGTTAATTGTGGGGTTCTAGGGAAAGGAATTTAGCTTGGGACATGGAAAGTTTGAGGTTCCTGTAGAGTGTCCCAGTGAAGATTTGTAATAGAGCATCGGATGCGCATATTAGATGGCACTTGGTGATATGATAAGAACTCAAAAAATATTTGAGGAATAAAGGAAAGAAGAGGCCAGACGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCATCATGCGCGTGTAGGGGGCAGTTAAAAAGCAGAAGTAAGAAAGATTGCCTAGGGAGGCAGGAAGGGTGAGGTGAGAGGAGAAGAGGCCCAGGACCAGATTCTAGTCACCAACAGCGTTTAAGGGGCAGGTAAGGAAAACAAAACCATCAGCAAAGACTGAGAATGAAAGCCCAGAGAGGAAGGAAAAGCCACACATACAATCAGTACAGCTCCATCTGAATAAAGGTAGCGCCCCCCCCCCCCCCAAATCATTAGAGAAATGCCTGAATCGTGTTTTCTGTTGATATTTCCTAAGCACCTAGATGTAGGGAATAGAAATAAATGGCTCCCTCTGTCTCATCCCCTTCCTGCCCTCTGAGAGGCAGCTGTGAATGCGTGCTTCCTTTCTGGGGGTGCAGATACTTTCTGGACCAACCCTCAGTACCGTCTGAAGCTCCTGGAGGAGGACGATGACCCTGATGACTCGGAGGTGATTTGCAGCTTCCTGGTGGCCCTGATGCAGAAGAACCGGCGGAAGGACCGGAAGCTAGGGGCCAGTCTCTTCACCATTGGCTTCGCCATCTACGAGGTGTGCAGTCCTGATTGGCTCCAGCCCAGGAAACATACTTTCCCAGGGAGGACGCTTCCAGGGGCTTCTAGAGGGGCCCTCTGGCTTCCTCAATACCCAGTGACCCACAGAGCTCCTGGTATCAGGACCACTTGTGTTTGTAACAAGCAAAAAATACCAGGGGGGGCATTAGAGAGGCAGTGGAGCGGGCCTGGCAGAACAGGTGCCTGGGGGTCAGGCTTCCGCATGCGGGCTGCAGTTGCTGGCATTGCCTTCCGCAGGCTCCTCATCCTCATTCACATCTGAAGCATCTTCCTTTCTGTTTCTTCTCAAGGTTCCCAAAGAGGTATAGCAGCAGCAGCGGCCAGCAGTTGTGTGCAGCACTACCCAGGGGGCCCCGAGTCTGTCTGTGGCTCGTCGAGAAGCTTCCTGGTGGGGTTTGTGGGCAGGACTGTGATAGGAGAGGGCCTTGCCTGTGTTATTTCCACTGCAGAGCAGGTGCCTCAGGGCATTGCATGACCCATGACTACCACCCCCAGGATGTGCACTTTCTCCCTCGCACCAGACACTGCACGTCACACACATGCCTTTGCACACTCACCCTCCTCCACGCTTACAGCCACACACACAGTCACACAGACGCGTTCTGAGGGTGGCTGCCCGCTTGGGATGGAGGAATCACTTCCCTCAGAACCCAGCCAAGTCCTCTAGGCCTCCTTGGGGGTCCTTCCAGCCTGAGGGGCTTCGGAGCTGAGGAGCAGCTGTTCTGGTAAGTGTCCCTGAGTGTGGGGATGACACATTTGCCATTCACTCTGAATCACAACAGAAAAGGAAGAGGAAGTGAGGTAGGGAGGCTATTTAAGCCTTGGGAGTCGGAAGTAGGGAGGTTGAAACTGTGACATGGGTGACCAGGGAGTTGGGAAGGGACCCTTGGAGGTGGCTGTGGCAGGACAGGATGTTCCTCCCGAGGGGCTCATGTGCCCTGGGCTCTCCCCATCTCTCAGATGCACGGGAACAAGCAGCACCTGCAGAAGGACTTCTTCCTGTACAACGCCTCCAAGGCCAGGAGCAAAACCTACATCAACATGCGGGAGGTGTCCCAGCGCTTCCGCCTGCCTCCCAGCGAGTACGTCATCGTGCCCTCCACCTACGAGCCCCACCAGGAGGGGGAATTCATCCTCCGGGTCTTCTCTGAAAAGAGGAACCTCTCTGAGTGAGTGCTGGCCCAGCTTTCCCACGTGTTTCTAAAAGCTCACATGGCCCACTCCAGAGGTTGAAGGCATGAGGCAGCTAGACACGTCTCCTCCAGGGTCCTTCTGCTGCTCCTGAGCCACTGGCCACATTACCCCCATTCATTCATTCATCCATTCTGTGATATTTATTGAGCACCTACTATGTTCCAGGCACTGTCCTAGGCACTAAGGATAGAGTAGTGAAGTAAACAGAAAGAAATCCCTGCCTTCATGGAGCTTAATATTCTAACATGAGACAATAATGGATAGGAAAAACATATGTAGCATGTTAGATTTGGAGAGGTGATATGGAGCAAAAATAAAGTAGGGAAGAGGGATAGGAGGTGTTGGGGATGCTTGAAATTTTAGGTTAGCATGGCCAGGAAAGCCACATCCTGTCCCTGGCCACCACAGATGAGCTCATAGCCCCTGCCACTCTGATCTCTGTCCTTGGAAGATGCACCAGGTCCATGGGTAGGTGGCTGGGTCATGCCTTTGGGGGGCTCTGAGCAATACTAACAAGAACCTGCGTGCCTGGGCTTGGCTGTCGGGGATGGTGCTGACATGGGGCTGGTTCCTGGGGTTGGGGTGTTCCAGGGGTTCTCTAGAGGCTGGTTCTGGCTTGGCTGCCAGGAAGCCGTGCACCAGAGCAAACCGTCCACGGGCCTCCTGCTTGCTTCTGGTGACACTGAGACCCCACATGTCTGTATTCCTCACAGGGAAGTTGAAAATACCATCTCCGTGGATCGGCCAGTGGTGA
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GCCGAAAAAGTTCCAGGCAGAAGAAGCCTAACTAGTGCTTATTAAGTCTCTCTGTTCCAGACGTCCACTATCTTATTAAACCTTCCCTGTTTTACTGAGAAGGAAACCACCATGCTGAGAAGTTTGCAATAGGGAGCTGGTAGCAACTTTGAAGCAGGAAACTGTGGGAACAATGCAGATGCTGCTTGACTTACGATGAGGTTATGTCCAGATAAGCCCATCCATCTTTGAAAATACCCTAAGTGAAAAGTGCATTCAATATGCCTAACCCACCAAACATCATAGCTTAGCCTGGCCTACCTTAAACATGCTCGGAACACTGACCTTAGCCTAAAGTTGGGCAAAATCATCTAACTCAAAGCCTATTTTACAAGAAAGTGTTGAATATCTCATGTAACTTACTTAATACTGTACTAAAAGTGAAAAACAGAATGGTTGTACGGGTACTCGAAATCCAGTTTCTACTGAATGTGCATCTCTTTCACATTGTAAAGTTAAAAAATTGTAGCCGAACCATCCTAAGTCAGGGACTGTGAGTACTGTGTCAGTAACAGTAAGGGCACTATTGGAGAACCAAGTTAGCAGCTGCTGCAATAGTTCAAGTCAGAGATGATGAAAACCTAGACCAAGTCAGTAGCAGCAGAGATGGAGGGGAGACAGCAGATTTAGGGAGAGCATATTGGGTGATGTAGGGAAGGAAGAAGAATGATGTCAAGATTCCCAGTTGGGGACCTGACAACATTGCAACATAAGACACACAAGAAGATCGGGTGGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCAGAGCCAGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCACAGGCAACATAGTGACACCTCATCGTTACAAAAAATAAAAAAAAAAATGAGGTGGGAGGATTGCTTGAGCTCGGGAGGTTGAGGCTACAATAAACTGTGATCATGCCACTGCACTCCTGCCTGGGTGACAGAGTGAGACCCTGCCTCAAAAAAAAAAGACACACAAGAGAAAAATATCAGCGTGTTGTTTGTTTTTGGTGGAGTTAATTGTGGGGTTCTAGGGAAAGGAATTTAGCTTGGGACATGGAAAGTTTGAGGTTCCTGTAGAGTGTCCCAGTGAAGATTTGTAATAGAGCATCGGATGCGCATATTAGATGGCACTTGGTGATATGATAAGAACTCAAAAAATATTTGAGGAATAAAGGAAAGAAGAGGCCAGACGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCATCATGCGCGTGTAGGGGGCAGTTAAAAAGCAGAAGTAAGAAAGATTGCCTAGGGAGGCAGGAAGGGTGAGGTGAGAGGAGAAGAGGCCCAGGACCAGATTCTAGTCACCAACAGCGTTTAAGGGGCAGGTAAGGAAAACAAAACCATCAGCAAAGACTGAGAATGAAAGCCCAGAGAGGAAGGAAAAGCCACACATACAATCAGTACAGCTCCATCTGAATAAAGGTAGCGCCCCCCCCCCCCCCAAATCATTAGAGAAATGCCTGAATCGTGTTTTCTGTTGATATTTCCTAAGCACCTAGATGTAGGGAATAGAAATAAATGGCTCCCTCTGTCTCATCCCCTTCCTGCCCTCTGAGAGGCAGCTGTGAATGCGTGCTTCCTTTCTGGGGGTGCAGATACTTTCTGGACCAACCCTCAGTACCGTCTGAAGCTCCTGGAGGAGGACGATGACCCTGATGACTCGGAGGTGATTTGCAGCTTCCTGGTGGACCTGATGCAGAAGAACCGGCGGAAGGACCGGAAGCTAGGGGCCAGTCTCTTCACCATTGGCTTCGCCATCTACGAGGTGTGCAGTCCTGATTGGCTCCAGCCCAGGAAACATACTTTCCCAGGGAGGACGCTTCCAGGGGCTTCTAGAGGGGCCCTCTGGCTTCCTCAATACCCAGTGACCCACAGAGCTCCTGGTATCAGGACCACTTGTGTTTGTAACAAGCAAAAAATACCAGGGGGGGCATTAGAGAGGCAGTGGAGCGGGCCTGGCAGAACAGGTGCCTGGGGGTCAGGCTTCCGCATGCGGGCTGCAGTTGCTGGCATTGCCTTCCGCAGGCTCCTCATCCTCATTCACATCTGAAGCATCTTCCTTTCTGTTTCTTCTCAAGGTTCCCAAAGAGGTATAGCAGCAGCAGCGGCCAGCAGTTGTGTGCAGCACTACCCAGGGGGCCCCGAGTCTGTCTGTGGCTCGTCGAGAAGCTTCCTGGTGGGGTTTGTGGGCAGGACTGTGATAGGAGAGGGCCTTGCCTGTGTTATTTCCACTGCAGAGCAGGTGCCTCAGGGCATTGCATGACCCATGACTACCACCCCCAGGATGTGCACTTTCTCCCTCGCACCAGACACTGCACGTCACACACATGCCTTTGCACACTCACCCTCCTCCACGCTTACAGCCACACACACAGTCACACAGACGCGTTCTGAGGGTGGCTGCCCGCTTGGGATGGAGGAATCACTTCCCTCAGAACCCAGCCAAGTCCTCTAGGCCTCCTTGGGGGTCCTTCCAGCCTGAGGGGCTTCGGAGCTGAGGAGCAGCTGTTCTGGTAAGTGTCCCTGAGTGTGGGGATGACACATTTGCCATTCACTCTGAATCACAACAGAAAAGGAAGAGGAAGTGAGGTAGGGAGGCTATTTAAGCCTTGGGAGTCGGAAGTAGGGAGGTTGAAACTGTGACATGGGTGACCAGGGAGTTGGGAAGGGACCCTTGGAGGTGGCTGTGGCAGGACAGGATGTTCCTCCCGAGGGGCTCATGTGCCCTGGGCTCTCCCCATCTCTCAGATGCACGGGAACAAGCAGCACCTGCAGAAGGACTTCTTCCTGTACAACGCCTCCAAGGCCAGGAGCAAAACCTACATCAACATGCGGGAGGTGTCCCAGCGCTTCCGCCTGCCTCCCAGCGAGTACGTCATCGTGCCCTCCACCTACGAGCCCCACCAGGAGGGGGAATTCATCCTCCGGGTCTTCTCTGAAAAGAGGAACCTCTCTGAGTGAGTGCTGGCCCAGCTTTCCCACGTGTTTCTAAAAGCTCACATGGCCCACTCCAGAGGTTGAAGGCATGAGGCAGCTAGACACGTCTCCTCCAGGGTCCTTCTGCTGCTCCTGAGCCACTGGCCACATTACCCCCATTCATTCATTCATCCATTCTGTGATATTTATTGAGCACCTACTATGTTCCAGGCACTGTCCTAGGCACTAAGGATAGAGTAGTGAAGTAAACAGAAAGAAATCCCTGCCTTCATGGAGCTTAATATTCTAACATGAGACAATAATGGATAGGAAAAACATATGTAGCATGTTAGATTTGGAGAGGTGATATGGAGCAAAAATAAAGTAGGGAAGAGGGATAGGAGGTGTTGGGGATGCTTGAAATTTTAGGTTAGCATGGCCAGGAAAGCCACATCCTGTCCCTGGCCACCACAGATGAGCTCATAGCCCCTGCCACTCTGATCTCTGTCCTTGGAAGATGCACCAGGTCCATGGGTAGGTGGCTGGGTCATGCCTTTGGGGGGCTCTGAGCAATACTAACAAGAACCTGCGTGCCTGGGCTTGGCTGTCGGGGATGGTGCTGACATGGGGCTGGTTCCTGGGGTTGGGGTGTTCCAGGGGTTCTCTAGAGGCTGGTTCTGGCTTGGCTGCCAGGAAGCCGTGCACCAGAGCAAACCGTCCACGGGCCTCCTGCTTGCTTCTGGTGACACTGAGACCCCACATGTCTGTATTCCTCACAGGGAAGTTGAAAATACCATCTCCGTGGATCGGCCAGTGGTGA
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Task1_train_20575
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Assess the clinical impact of this variant on gene CAPN3 (calpain 3), found on Chromosome 15. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Muscular dystrophy, limb-girdle, autosomal dominant 4
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GCCGAAAAAGTTCCAGGCAGAAGAAGCCTAACTAGTGCTTATTAAGTCTCTCTGTTCCAGACGTCCACTATCTTATTAAACCTTCCCTGTTTTACTGAGAAGGAAACCACCATGCTGAGAAGTTTGCAATAGGGAGCTGGTAGCAACTTTGAAGCAGGAAACTGTGGGAACAATGCAGATGCTGCTTGACTTACGATGAGGTTATGTCCAGATAAGCCCATCCATCTTTGAAAATACCCTAAGTGAAAAGTGCATTCAATATGCCTAACCCACCAAACATCATAGCTTAGCCTGGCCTACCTTAAACATGCTCGGAACACTGACCTTAGCCTAAAGTTGGGCAAAATCATCTAACTCAAAGCCTATTTTACAAGAAAGTGTTGAATATCTCATGTAACTTACTTAATACTGTACTAAAAGTGAAAAACAGAATGGTTGTACGGGTACTCGAAATCCAGTTTCTACTGAATGTGCATCTCTTTCACATTGTAAAGTTAAAAAATTGTAGCCGAACCATCCTAAGTCAGGGACTGTGAGTACTGTGTCAGTAACAGTAAGGGCACTATTGGAGAACCAAGTTAGCAGCTGCTGCAATAGTTCAAGTCAGAGATGATGAAAACCTAGACCAAGTCAGTAGCAGCAGAGATGGAGGGGAGACAGCAGATTTAGGGAGAGCATATTGGGTGATGTAGGGAAGGAAGAAGAATGATGTCAAGATTCCCAGTTGGGGACCTGACAACATTGCAACATAAGACACACAAGAAGATCGGGTGGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCAGAGCCAGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCACAGGCAACATAGTGACACCTCATCGTTACAAAAAATAAAAAAAAAAATGAGGTGGGAGGATTGCTTGAGCTCGGGAGGTTGAGGCTACAATAAACTGTGATCATGCCACTGCACTCCTGCCTGGGTGACAGAGTGAGACCCTGCCTCAAAAAAAAAAGACACACAAGAGAAAAATATCAGCGTGTTGTTTGTTTTTGGTGGAGTTAATTGTGGGGTTCTAGGGAAAGGAATTTAGCTTGGGACATGGAAAGTTTGAGGTTCCTGTAGAGTGTCCCAGTGAAGATTTGTAATAGAGCATCGGATGCGCATATTAGATGGCACTTGGTGATATGATAAGAACTCAAAAAATATTTGAGGAATAAAGGAAAGAAGAGGCCAGACGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCATCATGCGCGTGTAGGGGGCAGTTAAAAAGCAGAAGTAAGAAAGATTGCCTAGGGAGGCAGGAAGGGTGAGGTGAGAGGAGAAGAGGCCCAGGACCAGATTCTAGTCACCAACAGCGTTTAAGGGGCAGGTAAGGAAAACAAAACCATCAGCAAAGACTGAGAATGAAAGCCCAGAGAGGAAGGAAAAGCCACACATACAATCAGTACAGCTCCATCTGAATAAAGGTAGCGCCCCCCCCCCCCCCAAATCATTAGAGAAATGCCTGAATCGTGTTTTCTGTTGATATTTCCTAAGCACCTAGATGTAGGGAATAGAAATAAATGGCTCCCTCTGTCTCATCCCCTTCCTGCCCTCTGAGAGGCAGCTGTGAATGCGTGCTTCCTTTCTGGGGGTGCAGATACTTTCTGGACCAACCCTCAGTACCGTCTGAAGCTCCTGGAGGAGGACGATGACCCTGATGACTCGGAGGTGATTTGCAGCTTCCTGGTGGCCCTGATGCAGAAGAACCGGCGGAAGGACCGGAAGCTAGGGGCCAGTCTCTTCACCATTGGCTTCGCCATCTACGAGGTGTGCAGTCCTGATTGGCTCCAGCCCAGGAAACATACTTTCCCAGGGAGGACGCTTCCAGGGGCTTCTAGAGGGGCCCTCTGGCTTCCTCAATACCCAGTGACCCACAGAGCTCCTGGTATCAGGACCACTTGTGTTTGTAACAAGCAAAAAATACCAGGGGGGGCATTAGAGAGGCAGTGGAGCGGGCCTGGCAGAACAGGTGCCTGGGGGTCAGGCTTCCGCATGCGGGCTGCAGTTGCTGGCATTGCCTTCCGCAGGCTCCTCATCCTCATTCACATCTGAAGCATCTTCCTTTCTGTTTCTTCTCAAGGTTCCCAAAGAGGTATAGCAGCAGCAGCGGCCAGCAGTTGTGTGCAGCACTACCCAGGGGGCCCCGAGTCTGTCTGTGGCTCGTCGAGAAGCTTCCTGGTGGGGTTTGTGGGCAGGACTGTGATAGGAGAGGGCCTTGCCTGTGTTATTTCCACTGCAGAGCAGGTGCCTCAGGGCATTGCATGACCCATGACTACCACCCCCAGGATGTGCACTTTCTCCCTCGCACCAGACACTGCACGTCACACACATGCCTTTGCACACTCACCCTCCTCCACGCTTACAGCCACACACACAGTCACACAGACGCGTTCTGAGGGTGGCTGCCCGCTTGGGATGGAGGAATCACTTCCCTCAGAACCCAGCCAAGTCCTCTAGGCCTCCTTGGGGGTCCTTCCAGCCTGAGGGGCTTCGGAGCTGAGGAGCAGCTGTTCTGGTAAGTGTCCCTGAGTGTGGGGATGACACATTTGCCATTCACTCTGAATCACAACAGAAAAGGAAGAGGAAGTGAGGTAGGGAGGCTATTTAAGCCTTGGGAGTCGGAAGTAGGGAGGTTGAAACTGTGACATGGGTGACCAGGGAGTTGGGAAGGGACCCTTGGAGGTGGCTGTGGCAGGACAGGATGTTCCTCCCGAGGGGCTCATGTGCCCTGGGCTCTCCCCATCTCTCAGATGCACGGGAACAAGCAGCACCTGCAGAAGGACTTCTTCCTGTACAACGCCTCCAAGGCCAGGAGCAAAACCTACATCAACATGCGGGAGGTGTCCCAGCGCTTCCGCCTGCCTCCCAGCGAGTACGTCATCGTGCCCTCCACCTACGAGCCCCACCAGGAGGGGGAATTCATCCTCCGGGTCTTCTCTGAAAAGAGGAACCTCTCTGAGTGAGTGCTGGCCCAGCTTTCCCACGTGTTTCTAAAAGCTCACATGGCCCACTCCAGAGGTTGAAGGCATGAGGCAGCTAGACACGTCTCCTCCAGGGTCCTTCTGCTGCTCCTGAGCCACTGGCCACATTACCCCCATTCATTCATTCATCCATTCTGTGATATTTATTGAGCACCTACTATGTTCCAGGCACTGTCCTAGGCACTAAGGATAGAGTAGTGAAGTAAACAGAAAGAAATCCCTGCCTTCATGGAGCTTAATATTCTAACATGAGACAATAATGGATAGGAAAAACATATGTAGCATGTTAGATTTGGAGAGGTGATATGGAGCAAAAATAAAGTAGGGAAGAGGGATAGGAGGTGTTGGGGATGCTTGAAATTTTAGGTTAGCATGGCCAGGAAAGCCACATCCTGTCCCTGGCCACCACAGATGAGCTCATAGCCCCTGCCACTCTGATCTCTGTCCTTGGAAGATGCACCAGGTCCATGGGTAGGTGGCTGGGTCATGCCTTTGGGGGGCTCTGAGCAATACTAACAAGAACCTGCGTGCCTGGGCTTGGCTGTCGGGGATGGTGCTGACATGGGGCTGGTTCCTGGGGTTGGGGTGTTCCAGGGGTTCTCTAGAGGCTGGTTCTGGCTTGGCTGCCAGGAAGCCGTGCACCAGAGCAAACCGTCCACGGGCCTCCTGCTTGCTTCTGGTGACACTGAGACCCCACATGTCTGTATTCCTCACAGGGAAGTTGAAAATACCATCTCCGTGGATCGGCCAGTGGTGA
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GCCGAAAAAGTTCCAGGCAGAAGAAGCCTAACTAGTGCTTATTAAGTCTCTCTGTTCCAGACGTCCACTATCTTATTAAACCTTCCCTGTTTTACTGAGAAGGAAACCACCATGCTGAGAAGTTTGCAATAGGGAGCTGGTAGCAACTTTGAAGCAGGAAACTGTGGGAACAATGCAGATGCTGCTTGACTTACGATGAGGTTATGTCCAGATAAGCCCATCCATCTTTGAAAATACCCTAAGTGAAAAGTGCATTCAATATGCCTAACCCACCAAACATCATAGCTTAGCCTGGCCTACCTTAAACATGCTCGGAACACTGACCTTAGCCTAAAGTTGGGCAAAATCATCTAACTCAAAGCCTATTTTACAAGAAAGTGTTGAATATCTCATGTAACTTACTTAATACTGTACTAAAAGTGAAAAACAGAATGGTTGTACGGGTACTCGAAATCCAGTTTCTACTGAATGTGCATCTCTTTCACATTGTAAAGTTAAAAAATTGTAGCCGAACCATCCTAAGTCAGGGACTGTGAGTACTGTGTCAGTAACAGTAAGGGCACTATTGGAGAACCAAGTTAGCAGCTGCTGCAATAGTTCAAGTCAGAGATGATGAAAACCTAGACCAAGTCAGTAGCAGCAGAGATGGAGGGGAGACAGCAGATTTAGGGAGAGCATATTGGGTGATGTAGGGAAGGAAGAAGAATGATGTCAAGATTCCCAGTTGGGGACCTGACAACATTGCAACATAAGACACACAAGAAGATCGGGTGGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCAGAGCCAGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCACAGGCAACATAGTGACACCTCATCGTTACAAAAAATAAAAAAAAAAATGAGGTGGGAGGATTGCTTGAGCTCGGGAGGTTGAGGCTACAATAAACTGTGATCATGCCACTGCACTCCTGCCTGGGTGACAGAGTGAGACCCTGCCTCAAAAAAAAAAGACACACAAGAGAAAAATATCAGCGTGTTGTTTGTTTTTGGTGGAGTTAATTGTGGGGTTCTAGGGAAAGGAATTTAGCTTGGGACATGGAAAGTTTGAGGTTCCTGTAGAGTGTCCCAGTGAAGATTTGTAATAGAGCATCGGATGCGCATATTAGATGGCACTTGGTGATATGATAAGAACTCAAAAAATATTTGAGGAATAAAGGAAAGAAGAGGCCAGACGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCATCATGCGCGTGTAGGGGGCAGTTAAAAAGCAGAAGTAAGAAAGATTGCCTAGGGAGGCAGGAAGGGTGAGGTGAGAGGAGAAGAGGCCCAGGACCAGATTCTAGTCACCAACAGCGTTTAAGGGGCAGGTAAGGAAAACAAAACCATCAGCAAAGACTGAGAATGAAAGCCCAGAGAGGAAGGAAAAGCCACACATACAATCAGTACAGCTCCATCTGAATAAAGGTAGCGCCCCCCCCCCCCCCAAATCATTAGAGAAATGCCTGAATCGTGTTTTCTGTTGATATTTCCTAAGCACCTAGATGTAGGGAATAGAAATAAATGGCTCCCTCTGTCTCATCCCCTTCCTGCCCTCTGAGAGGCAGCTGTGAATGCGTGCTTCCTTTCTGGGGGTGCAGATACTTTCTGGACCAACCCTCAGTACCGTCTGAAGCTCCTGGAGGAGGACGATGACCCTGATGACTCGGAGGTGATTTGCAGCTTCCTGGTGGACCTGATGCAGAAGAACCGGCGGAAGGACCGGAAGCTAGGGGCCAGTCTCTTCACCATTGGCTTCGCCATCTACGAGGTGTGCAGTCCTGATTGGCTCCAGCCCAGGAAACATACTTTCCCAGGGAGGACGCTTCCAGGGGCTTCTAGAGGGGCCCTCTGGCTTCCTCAATACCCAGTGACCCACAGAGCTCCTGGTATCAGGACCACTTGTGTTTGTAACAAGCAAAAAATACCAGGGGGGGCATTAGAGAGGCAGTGGAGCGGGCCTGGCAGAACAGGTGCCTGGGGGTCAGGCTTCCGCATGCGGGCTGCAGTTGCTGGCATTGCCTTCCGCAGGCTCCTCATCCTCATTCACATCTGAAGCATCTTCCTTTCTGTTTCTTCTCAAGGTTCCCAAAGAGGTATAGCAGCAGCAGCGGCCAGCAGTTGTGTGCAGCACTACCCAGGGGGCCCCGAGTCTGTCTGTGGCTCGTCGAGAAGCTTCCTGGTGGGGTTTGTGGGCAGGACTGTGATAGGAGAGGGCCTTGCCTGTGTTATTTCCACTGCAGAGCAGGTGCCTCAGGGCATTGCATGACCCATGACTACCACCCCCAGGATGTGCACTTTCTCCCTCGCACCAGACACTGCACGTCACACACATGCCTTTGCACACTCACCCTCCTCCACGCTTACAGCCACACACACAGTCACACAGACGCGTTCTGAGGGTGGCTGCCCGCTTGGGATGGAGGAATCACTTCCCTCAGAACCCAGCCAAGTCCTCTAGGCCTCCTTGGGGGTCCTTCCAGCCTGAGGGGCTTCGGAGCTGAGGAGCAGCTGTTCTGGTAAGTGTCCCTGAGTGTGGGGATGACACATTTGCCATTCACTCTGAATCACAACAGAAAAGGAAGAGGAAGTGAGGTAGGGAGGCTATTTAAGCCTTGGGAGTCGGAAGTAGGGAGGTTGAAACTGTGACATGGGTGACCAGGGAGTTGGGAAGGGACCCTTGGAGGTGGCTGTGGCAGGACAGGATGTTCCTCCCGAGGGGCTCATGTGCCCTGGGCTCTCCCCATCTCTCAGATGCACGGGAACAAGCAGCACCTGCAGAAGGACTTCTTCCTGTACAACGCCTCCAAGGCCAGGAGCAAAACCTACATCAACATGCGGGAGGTGTCCCAGCGCTTCCGCCTGCCTCCCAGCGAGTACGTCATCGTGCCCTCCACCTACGAGCCCCACCAGGAGGGGGAATTCATCCTCCGGGTCTTCTCTGAAAAGAGGAACCTCTCTGAGTGAGTGCTGGCCCAGCTTTCCCACGTGTTTCTAAAAGCTCACATGGCCCACTCCAGAGGTTGAAGGCATGAGGCAGCTAGACACGTCTCCTCCAGGGTCCTTCTGCTGCTCCTGAGCCACTGGCCACATTACCCCCATTCATTCATTCATCCATTCTGTGATATTTATTGAGCACCTACTATGTTCCAGGCACTGTCCTAGGCACTAAGGATAGAGTAGTGAAGTAAACAGAAAGAAATCCCTGCCTTCATGGAGCTTAATATTCTAACATGAGACAATAATGGATAGGAAAAACATATGTAGCATGTTAGATTTGGAGAGGTGATATGGAGCAAAAATAAAGTAGGGAAGAGGGATAGGAGGTGTTGGGGATGCTTGAAATTTTAGGTTAGCATGGCCAGGAAAGCCACATCCTGTCCCTGGCCACCACAGATGAGCTCATAGCCCCTGCCACTCTGATCTCTGTCCTTGGAAGATGCACCAGGTCCATGGGTAGGTGGCTGGGTCATGCCTTTGGGGGGCTCTGAGCAATACTAACAAGAACCTGCGTGCCTGGGCTTGGCTGTCGGGGATGGTGCTGACATGGGGCTGGTTCCTGGGGTTGGGGTGTTCCAGGGGTTCTCTAGAGGCTGGTTCTGGCTTGGCTGCCAGGAAGCCGTGCACCAGAGCAAACCGTCCACGGGCCTCCTGCTTGCTTCTGGTGACACTGAGACCCCACATGTCTGTATTCCTCACAGGGAAGTTGAAAATACCATCTCCGTGGATCGGCCAGTGGTGA
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Task1_train_20576
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Consider a variant on Chromosome 15 in gene CAPN3 (calpain 3). Determine its clinical classification and disease relevance.
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Pathogenic; Muscular dystrophy, limb-girdle, autosomal dominant 4
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CAGAAGAAGCCTAACTAGTGCTTATTAAGTCTCTCTGTTCCAGACGTCCACTATCTTATTAAACCTTCCCTGTTTTACTGAGAAGGAAACCACCATGCTGAGAAGTTTGCAATAGGGAGCTGGTAGCAACTTTGAAGCAGGAAACTGTGGGAACAATGCAGATGCTGCTTGACTTACGATGAGGTTATGTCCAGATAAGCCCATCCATCTTTGAAAATACCCTAAGTGAAAAGTGCATTCAATATGCCTAACCCACCAAACATCATAGCTTAGCCTGGCCTACCTTAAACATGCTCGGAACACTGACCTTAGCCTAAAGTTGGGCAAAATCATCTAACTCAAAGCCTATTTTACAAGAAAGTGTTGAATATCTCATGTAACTTACTTAATACTGTACTAAAAGTGAAAAACAGAATGGTTGTACGGGTACTCGAAATCCAGTTTCTACTGAATGTGCATCTCTTTCACATTGTAAAGTTAAAAAATTGTAGCCGAACCATCCTAAGTCAGGGACTGTGAGTACTGTGTCAGTAACAGTAAGGGCACTATTGGAGAACCAAGTTAGCAGCTGCTGCAATAGTTCAAGTCAGAGATGATGAAAACCTAGACCAAGTCAGTAGCAGCAGAGATGGAGGGGAGACAGCAGATTTAGGGAGAGCATATTGGGTGATGTAGGGAAGGAAGAAGAATGATGTCAAGATTCCCAGTTGGGGACCTGACAACATTGCAACATAAGACACACAAGAAGATCGGGTGGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCAGAGCCAGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCACAGGCAACATAGTGACACCTCATCGTTACAAAAAATAAAAAAAAAAATGAGGTGGGAGGATTGCTTGAGCTCGGGAGGTTGAGGCTACAATAAACTGTGATCATGCCACTGCACTCCTGCCTGGGTGACAGAGTGAGACCCTGCCTCAAAAAAAAAAGACACACAAGAGAAAAATATCAGCGTGTTGTTTGTTTTTGGTGGAGTTAATTGTGGGGTTCTAGGGAAAGGAATTTAGCTTGGGACATGGAAAGTTTGAGGTTCCTGTAGAGTGTCCCAGTGAAGATTTGTAATAGAGCATCGGATGCGCATATTAGATGGCACTTGGTGATATGATAAGAACTCAAAAAATATTTGAGGAATAAAGGAAAGAAGAGGCCAGACGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCATCATGCGCGTGTAGGGGGCAGTTAAAAAGCAGAAGTAAGAAAGATTGCCTAGGGAGGCAGGAAGGGTGAGGTGAGAGGAGAAGAGGCCCAGGACCAGATTCTAGTCACCAACAGCGTTTAAGGGGCAGGTAAGGAAAACAAAACCATCAGCAAAGACTGAGAATGAAAGCCCAGAGAGGAAGGAAAAGCCACACATACAATCAGTACAGCTCCATCTGAATAAAGGTAGCGCCCCCCCCCCCCCCAAATCATTAGAGAAATGCCTGAATCGTGTTTTCTGTTGATATTTCCTAAGCACCTAGATGTAGGGAATAGAAATAAATGGCTCCCTCTGTCTCATCCCCTTCCTGCCCTCTGAGAGGCAGCTGTGAATGCGTGCTTCCTTTCTGGGGGTGCAGATACTTTCTGGACCAACCCTCAGTACCGTCTGAAGCTCCTGGAGGAGGACGATGACCCTGATGACTCGGAGGTGATTTGCAGCTTCCTGGTGGCCCTGATGCAGAAGAACCGGCGGAAGGACCGGAAGCTAGGGGCCAGTCTCTTCACCATTGGCTTCGCCATCTACGAGGTGTGCAGTCCTGATTGGCTCCAGCCCAGGAAACATACTTTCCCAGGGAGGACGCTTCCAGGGGCTTCTAGAGGGGCCCTCTGGCTTCCTCAATACCCAGTGACCCACAGAGCTCCTGGTATCAGGACCACTTGTGTTTGTAACAAGCAAAAAATACCAGGGGGGGCATTAGAGAGGCAGTGGAGCGGGCCTGGCAGAACAGGTGCCTGGGGGTCAGGCTTCCGCATGCGGGCTGCAGTTGCTGGCATTGCCTTCCGCAGGCTCCTCATCCTCATTCACATCTGAAGCATCTTCCTTTCTGTTTCTTCTCAAGGTTCCCAAAGAGGTATAGCAGCAGCAGCGGCCAGCAGTTGTGTGCAGCACTACCCAGGGGGCCCCGAGTCTGTCTGTGGCTCGTCGAGAAGCTTCCTGGTGGGGTTTGTGGGCAGGACTGTGATAGGAGAGGGCCTTGCCTGTGTTATTTCCACTGCAGAGCAGGTGCCTCAGGGCATTGCATGACCCATGACTACCACCCCCAGGATGTGCACTTTCTCCCTCGCACCAGACACTGCACGTCACACACATGCCTTTGCACACTCACCCTCCTCCACGCTTACAGCCACACACACAGTCACACAGACGCGTTCTGAGGGTGGCTGCCCGCTTGGGATGGAGGAATCACTTCCCTCAGAACCCAGCCAAGTCCTCTAGGCCTCCTTGGGGGTCCTTCCAGCCTGAGGGGCTTCGGAGCTGAGGAGCAGCTGTTCTGGTAAGTGTCCCTGAGTGTGGGGATGACACATTTGCCATTCACTCTGAATCACAACAGAAAAGGAAGAGGAAGTGAGGTAGGGAGGCTATTTAAGCCTTGGGAGTCGGAAGTAGGGAGGTTGAAACTGTGACATGGGTGACCAGGGAGTTGGGAAGGGACCCTTGGAGGTGGCTGTGGCAGGACAGGATGTTCCTCCCGAGGGGCTCATGTGCCCTGGGCTCTCCCCATCTCTCAGATGCACGGGAACAAGCAGCACCTGCAGAAGGACTTCTTCCTGTACAACGCCTCCAAGGCCAGGAGCAAAACCTACATCAACATGCGGGAGGTGTCCCAGCGCTTCCGCCTGCCTCCCAGCGAGTACGTCATCGTGCCCTCCACCTACGAGCCCCACCAGGAGGGGGAATTCATCCTCCGGGTCTTCTCTGAAAAGAGGAACCTCTCTGAGTGAGTGCTGGCCCAGCTTTCCCACGTGTTTCTAAAAGCTCACATGGCCCACTCCAGAGGTTGAAGGCATGAGGCAGCTAGACACGTCTCCTCCAGGGTCCTTCTGCTGCTCCTGAGCCACTGGCCACATTACCCCCATTCATTCATTCATCCATTCTGTGATATTTATTGAGCACCTACTATGTTCCAGGCACTGTCCTAGGCACTAAGGATAGAGTAGTGAAGTAAACAGAAAGAAATCCCTGCCTTCATGGAGCTTAATATTCTAACATGAGACAATAATGGATAGGAAAAACATATGTAGCATGTTAGATTTGGAGAGGTGATATGGAGCAAAAATAAAGTAGGGAAGAGGGATAGGAGGTGTTGGGGATGCTTGAAATTTTAGGTTAGCATGGCCAGGAAAGCCACATCCTGTCCCTGGCCACCACAGATGAGCTCATAGCCCCTGCCACTCTGATCTCTGTCCTTGGAAGATGCACCAGGTCCATGGGTAGGTGGCTGGGTCATGCCTTTGGGGGGCTCTGAGCAATACTAACAAGAACCTGCGTGCCTGGGCTTGGCTGTCGGGGATGGTGCTGACATGGGGCTGGTTCCTGGGGTTGGGGTGTTCCAGGGGTTCTCTAGAGGCTGGTTCTGGCTTGGCTGCCAGGAAGCCGTGCACCAGAGCAAACCGTCCACGGGCCTCCTGCTTGCTTCTGGTGACACTGAGACCCCACATGTCTGTATTCCTCACAGGGAAGTTGAAAATACCATCTCCGTGGATCGGCCAGTGGTGAGTGGTTTAGATCTTCTG
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CAGAAGAAGCCTAACTAGTGCTTATTAAGTCTCTCTGTTCCAGACGTCCACTATCTTATTAAACCTTCCCTGTTTTACTGAGAAGGAAACCACCATGCTGAGAAGTTTGCAATAGGGAGCTGGTAGCAACTTTGAAGCAGGAAACTGTGGGAACAATGCAGATGCTGCTTGACTTACGATGAGGTTATGTCCAGATAAGCCCATCCATCTTTGAAAATACCCTAAGTGAAAAGTGCATTCAATATGCCTAACCCACCAAACATCATAGCTTAGCCTGGCCTACCTTAAACATGCTCGGAACACTGACCTTAGCCTAAAGTTGGGCAAAATCATCTAACTCAAAGCCTATTTTACAAGAAAGTGTTGAATATCTCATGTAACTTACTTAATACTGTACTAAAAGTGAAAAACAGAATGGTTGTACGGGTACTCGAAATCCAGTTTCTACTGAATGTGCATCTCTTTCACATTGTAAAGTTAAAAAATTGTAGCCGAACCATCCTAAGTCAGGGACTGTGAGTACTGTGTCAGTAACAGTAAGGGCACTATTGGAGAACCAAGTTAGCAGCTGCTGCAATAGTTCAAGTCAGAGATGATGAAAACCTAGACCAAGTCAGTAGCAGCAGAGATGGAGGGGAGACAGCAGATTTAGGGAGAGCATATTGGGTGATGTAGGGAAGGAAGAAGAATGATGTCAAGATTCCCAGTTGGGGACCTGACAACATTGCAACATAAGACACACAAGAAGATCGGGTGGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCAGAGCCAGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCACAGGCAACATAGTGACACCTCATCGTTACAAAAAATAAAAAAAAAAATGAGGTGGGAGGATTGCTTGAGCTCGGGAGGTTGAGGCTACAATAAACTGTGATCATGCCACTGCACTCCTGCCTGGGTGACAGAGTGAGACCCTGCCTCAAAAAAAAAAGACACACAAGAGAAAAATATCAGCGTGTTGTTTGTTTTTGGTGGAGTTAATTGTGGGGTTCTAGGGAAAGGAATTTAGCTTGGGACATGGAAAGTTTGAGGTTCCTGTAGAGTGTCCCAGTGAAGATTTGTAATAGAGCATCGGATGCGCATATTAGATGGCACTTGGTGATATGATAAGAACTCAAAAAATATTTGAGGAATAAAGGAAAGAAGAGGCCAGACGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCATCATGCGCGTGTAGGGGGCAGTTAAAAAGCAGAAGTAAGAAAGATTGCCTAGGGAGGCAGGAAGGGTGAGGTGAGAGGAGAAGAGGCCCAGGACCAGATTCTAGTCACCAACAGCGTTTAAGGGGCAGGTAAGGAAAACAAAACCATCAGCAAAGACTGAGAATGAAAGCCCAGAGAGGAAGGAAAAGCCACACATACAATCAGTACAGCTCCATCTGAATAAAGGTAGCGCCCCCCCCCCCCCCAAATCATTAGAGAAATGCCTGAATCGTGTTTTCTGTTGATATTTCCTAAGCACCTAGATGTAGGGAATAGAAATAAATGGCTCCCTCTGTCTCATCCCCTTCCTGCCCTCTGAGAGGCAGCTGTGAATGCGTGCTTCCTTTCTGGGGGTGCAGATACTTTCTGGACCAACCCTCAGTACCGTCTGAAGCTCCTGGAGGAGGACGATGACCCTGATGACTCGGAGGTGATTTGCAGCTTCCTGGTGGCCCTGATGCAGAAGAACTGGCGGAAGGACCGGAAGCTAGGGGCCAGTCTCTTCACCATTGGCTTCGCCATCTACGAGGTGTGCAGTCCTGATTGGCTCCAGCCCAGGAAACATACTTTCCCAGGGAGGACGCTTCCAGGGGCTTCTAGAGGGGCCCTCTGGCTTCCTCAATACCCAGTGACCCACAGAGCTCCTGGTATCAGGACCACTTGTGTTTGTAACAAGCAAAAAATACCAGGGGGGGCATTAGAGAGGCAGTGGAGCGGGCCTGGCAGAACAGGTGCCTGGGGGTCAGGCTTCCGCATGCGGGCTGCAGTTGCTGGCATTGCCTTCCGCAGGCTCCTCATCCTCATTCACATCTGAAGCATCTTCCTTTCTGTTTCTTCTCAAGGTTCCCAAAGAGGTATAGCAGCAGCAGCGGCCAGCAGTTGTGTGCAGCACTACCCAGGGGGCCCCGAGTCTGTCTGTGGCTCGTCGAGAAGCTTCCTGGTGGGGTTTGTGGGCAGGACTGTGATAGGAGAGGGCCTTGCCTGTGTTATTTCCACTGCAGAGCAGGTGCCTCAGGGCATTGCATGACCCATGACTACCACCCCCAGGATGTGCACTTTCTCCCTCGCACCAGACACTGCACGTCACACACATGCCTTTGCACACTCACCCTCCTCCACGCTTACAGCCACACACACAGTCACACAGACGCGTTCTGAGGGTGGCTGCCCGCTTGGGATGGAGGAATCACTTCCCTCAGAACCCAGCCAAGTCCTCTAGGCCTCCTTGGGGGTCCTTCCAGCCTGAGGGGCTTCGGAGCTGAGGAGCAGCTGTTCTGGTAAGTGTCCCTGAGTGTGGGGATGACACATTTGCCATTCACTCTGAATCACAACAGAAAAGGAAGAGGAAGTGAGGTAGGGAGGCTATTTAAGCCTTGGGAGTCGGAAGTAGGGAGGTTGAAACTGTGACATGGGTGACCAGGGAGTTGGGAAGGGACCCTTGGAGGTGGCTGTGGCAGGACAGGATGTTCCTCCCGAGGGGCTCATGTGCCCTGGGCTCTCCCCATCTCTCAGATGCACGGGAACAAGCAGCACCTGCAGAAGGACTTCTTCCTGTACAACGCCTCCAAGGCCAGGAGCAAAACCTACATCAACATGCGGGAGGTGTCCCAGCGCTTCCGCCTGCCTCCCAGCGAGTACGTCATCGTGCCCTCCACCTACGAGCCCCACCAGGAGGGGGAATTCATCCTCCGGGTCTTCTCTGAAAAGAGGAACCTCTCTGAGTGAGTGCTGGCCCAGCTTTCCCACGTGTTTCTAAAAGCTCACATGGCCCACTCCAGAGGTTGAAGGCATGAGGCAGCTAGACACGTCTCCTCCAGGGTCCTTCTGCTGCTCCTGAGCCACTGGCCACATTACCCCCATTCATTCATTCATCCATTCTGTGATATTTATTGAGCACCTACTATGTTCCAGGCACTGTCCTAGGCACTAAGGATAGAGTAGTGAAGTAAACAGAAAGAAATCCCTGCCTTCATGGAGCTTAATATTCTAACATGAGACAATAATGGATAGGAAAAACATATGTAGCATGTTAGATTTGGAGAGGTGATATGGAGCAAAAATAAAGTAGGGAAGAGGGATAGGAGGTGTTGGGGATGCTTGAAATTTTAGGTTAGCATGGCCAGGAAAGCCACATCCTGTCCCTGGCCACCACAGATGAGCTCATAGCCCCTGCCACTCTGATCTCTGTCCTTGGAAGATGCACCAGGTCCATGGGTAGGTGGCTGGGTCATGCCTTTGGGGGGCTCTGAGCAATACTAACAAGAACCTGCGTGCCTGGGCTTGGCTGTCGGGGATGGTGCTGACATGGGGCTGGTTCCTGGGGTTGGGGTGTTCCAGGGGTTCTCTAGAGGCTGGTTCTGGCTTGGCTGCCAGGAAGCCGTGCACCAGAGCAAACCGTCCACGGGCCTCCTGCTTGCTTCTGGTGACACTGAGACCCCACATGTCTGTATTCCTCACAGGGAAGTTGAAAATACCATCTCCGTGGATCGGCCAGTGGTGAGTGGTTTAGATCTTCTG
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Task1_train_20577
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A variant has been detected on Chromosome 15 in CAPN3 (calpain 3). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2A
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CAGAAGAAGCCTAACTAGTGCTTATTAAGTCTCTCTGTTCCAGACGTCCACTATCTTATTAAACCTTCCCTGTTTTACTGAGAAGGAAACCACCATGCTGAGAAGTTTGCAATAGGGAGCTGGTAGCAACTTTGAAGCAGGAAACTGTGGGAACAATGCAGATGCTGCTTGACTTACGATGAGGTTATGTCCAGATAAGCCCATCCATCTTTGAAAATACCCTAAGTGAAAAGTGCATTCAATATGCCTAACCCACCAAACATCATAGCTTAGCCTGGCCTACCTTAAACATGCTCGGAACACTGACCTTAGCCTAAAGTTGGGCAAAATCATCTAACTCAAAGCCTATTTTACAAGAAAGTGTTGAATATCTCATGTAACTTACTTAATACTGTACTAAAAGTGAAAAACAGAATGGTTGTACGGGTACTCGAAATCCAGTTTCTACTGAATGTGCATCTCTTTCACATTGTAAAGTTAAAAAATTGTAGCCGAACCATCCTAAGTCAGGGACTGTGAGTACTGTGTCAGTAACAGTAAGGGCACTATTGGAGAACCAAGTTAGCAGCTGCTGCAATAGTTCAAGTCAGAGATGATGAAAACCTAGACCAAGTCAGTAGCAGCAGAGATGGAGGGGAGACAGCAGATTTAGGGAGAGCATATTGGGTGATGTAGGGAAGGAAGAAGAATGATGTCAAGATTCCCAGTTGGGGACCTGACAACATTGCAACATAAGACACACAAGAAGATCGGGTGGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCAGAGCCAGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCACAGGCAACATAGTGACACCTCATCGTTACAAAAAATAAAAAAAAAAATGAGGTGGGAGGATTGCTTGAGCTCGGGAGGTTGAGGCTACAATAAACTGTGATCATGCCACTGCACTCCTGCCTGGGTGACAGAGTGAGACCCTGCCTCAAAAAAAAAAGACACACAAGAGAAAAATATCAGCGTGTTGTTTGTTTTTGGTGGAGTTAATTGTGGGGTTCTAGGGAAAGGAATTTAGCTTGGGACATGGAAAGTTTGAGGTTCCTGTAGAGTGTCCCAGTGAAGATTTGTAATAGAGCATCGGATGCGCATATTAGATGGCACTTGGTGATATGATAAGAACTCAAAAAATATTTGAGGAATAAAGGAAAGAAGAGGCCAGACGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCATCATGCGCGTGTAGGGGGCAGTTAAAAAGCAGAAGTAAGAAAGATTGCCTAGGGAGGCAGGAAGGGTGAGGTGAGAGGAGAAGAGGCCCAGGACCAGATTCTAGTCACCAACAGCGTTTAAGGGGCAGGTAAGGAAAACAAAACCATCAGCAAAGACTGAGAATGAAAGCCCAGAGAGGAAGGAAAAGCCACACATACAATCAGTACAGCTCCATCTGAATAAAGGTAGCGCCCCCCCCCCCCCCAAATCATTAGAGAAATGCCTGAATCGTGTTTTCTGTTGATATTTCCTAAGCACCTAGATGTAGGGAATAGAAATAAATGGCTCCCTCTGTCTCATCCCCTTCCTGCCCTCTGAGAGGCAGCTGTGAATGCGTGCTTCCTTTCTGGGGGTGCAGATACTTTCTGGACCAACCCTCAGTACCGTCTGAAGCTCCTGGAGGAGGACGATGACCCTGATGACTCGGAGGTGATTTGCAGCTTCCTGGTGGCCCTGATGCAGAAGAACCGGCGGAAGGACCGGAAGCTAGGGGCCAGTCTCTTCACCATTGGCTTCGCCATCTACGAGGTGTGCAGTCCTGATTGGCTCCAGCCCAGGAAACATACTTTCCCAGGGAGGACGCTTCCAGGGGCTTCTAGAGGGGCCCTCTGGCTTCCTCAATACCCAGTGACCCACAGAGCTCCTGGTATCAGGACCACTTGTGTTTGTAACAAGCAAAAAATACCAGGGGGGGCATTAGAGAGGCAGTGGAGCGGGCCTGGCAGAACAGGTGCCTGGGGGTCAGGCTTCCGCATGCGGGCTGCAGTTGCTGGCATTGCCTTCCGCAGGCTCCTCATCCTCATTCACATCTGAAGCATCTTCCTTTCTGTTTCTTCTCAAGGTTCCCAAAGAGGTATAGCAGCAGCAGCGGCCAGCAGTTGTGTGCAGCACTACCCAGGGGGCCCCGAGTCTGTCTGTGGCTCGTCGAGAAGCTTCCTGGTGGGGTTTGTGGGCAGGACTGTGATAGGAGAGGGCCTTGCCTGTGTTATTTCCACTGCAGAGCAGGTGCCTCAGGGCATTGCATGACCCATGACTACCACCCCCAGGATGTGCACTTTCTCCCTCGCACCAGACACTGCACGTCACACACATGCCTTTGCACACTCACCCTCCTCCACGCTTACAGCCACACACACAGTCACACAGACGCGTTCTGAGGGTGGCTGCCCGCTTGGGATGGAGGAATCACTTCCCTCAGAACCCAGCCAAGTCCTCTAGGCCTCCTTGGGGGTCCTTCCAGCCTGAGGGGCTTCGGAGCTGAGGAGCAGCTGTTCTGGTAAGTGTCCCTGAGTGTGGGGATGACACATTTGCCATTCACTCTGAATCACAACAGAAAAGGAAGAGGAAGTGAGGTAGGGAGGCTATTTAAGCCTTGGGAGTCGGAAGTAGGGAGGTTGAAACTGTGACATGGGTGACCAGGGAGTTGGGAAGGGACCCTTGGAGGTGGCTGTGGCAGGACAGGATGTTCCTCCCGAGGGGCTCATGTGCCCTGGGCTCTCCCCATCTCTCAGATGCACGGGAACAAGCAGCACCTGCAGAAGGACTTCTTCCTGTACAACGCCTCCAAGGCCAGGAGCAAAACCTACATCAACATGCGGGAGGTGTCCCAGCGCTTCCGCCTGCCTCCCAGCGAGTACGTCATCGTGCCCTCCACCTACGAGCCCCACCAGGAGGGGGAATTCATCCTCCGGGTCTTCTCTGAAAAGAGGAACCTCTCTGAGTGAGTGCTGGCCCAGCTTTCCCACGTGTTTCTAAAAGCTCACATGGCCCACTCCAGAGGTTGAAGGCATGAGGCAGCTAGACACGTCTCCTCCAGGGTCCTTCTGCTGCTCCTGAGCCACTGGCCACATTACCCCCATTCATTCATTCATCCATTCTGTGATATTTATTGAGCACCTACTATGTTCCAGGCACTGTCCTAGGCACTAAGGATAGAGTAGTGAAGTAAACAGAAAGAAATCCCTGCCTTCATGGAGCTTAATATTCTAACATGAGACAATAATGGATAGGAAAAACATATGTAGCATGTTAGATTTGGAGAGGTGATATGGAGCAAAAATAAAGTAGGGAAGAGGGATAGGAGGTGTTGGGGATGCTTGAAATTTTAGGTTAGCATGGCCAGGAAAGCCACATCCTGTCCCTGGCCACCACAGATGAGCTCATAGCCCCTGCCACTCTGATCTCTGTCCTTGGAAGATGCACCAGGTCCATGGGTAGGTGGCTGGGTCATGCCTTTGGGGGGCTCTGAGCAATACTAACAAGAACCTGCGTGCCTGGGCTTGGCTGTCGGGGATGGTGCTGACATGGGGCTGGTTCCTGGGGTTGGGGTGTTCCAGGGGTTCTCTAGAGGCTGGTTCTGGCTTGGCTGCCAGGAAGCCGTGCACCAGAGCAAACCGTCCACGGGCCTCCTGCTTGCTTCTGGTGACACTGAGACCCCACATGTCTGTATTCCTCACAGGGAAGTTGAAAATACCATCTCCGTGGATCGGCCAGTGGTGAGTGGTTTAGATCTTCTG
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CAGAAGAAGCCTAACTAGTGCTTATTAAGTCTCTCTGTTCCAGACGTCCACTATCTTATTAAACCTTCCCTGTTTTACTGAGAAGGAAACCACCATGCTGAGAAGTTTGCAATAGGGAGCTGGTAGCAACTTTGAAGCAGGAAACTGTGGGAACAATGCAGATGCTGCTTGACTTACGATGAGGTTATGTCCAGATAAGCCCATCCATCTTTGAAAATACCCTAAGTGAAAAGTGCATTCAATATGCCTAACCCACCAAACATCATAGCTTAGCCTGGCCTACCTTAAACATGCTCGGAACACTGACCTTAGCCTAAAGTTGGGCAAAATCATCTAACTCAAAGCCTATTTTACAAGAAAGTGTTGAATATCTCATGTAACTTACTTAATACTGTACTAAAAGTGAAAAACAGAATGGTTGTACGGGTACTCGAAATCCAGTTTCTACTGAATGTGCATCTCTTTCACATTGTAAAGTTAAAAAATTGTAGCCGAACCATCCTAAGTCAGGGACTGTGAGTACTGTGTCAGTAACAGTAAGGGCACTATTGGAGAACCAAGTTAGCAGCTGCTGCAATAGTTCAAGTCAGAGATGATGAAAACCTAGACCAAGTCAGTAGCAGCAGAGATGGAGGGGAGACAGCAGATTTAGGGAGAGCATATTGGGTGATGTAGGGAAGGAAGAAGAATGATGTCAAGATTCCCAGTTGGGGACCTGACAACATTGCAACATAAGACACACAAGAAGATCGGGTGGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCAGAGCCAGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCACAGGCAACATAGTGACACCTCATCGTTACAAAAAATAAAAAAAAAAATGAGGTGGGAGGATTGCTTGAGCTCGGGAGGTTGAGGCTACAATAAACTGTGATCATGCCACTGCACTCCTGCCTGGGTGACAGAGTGAGACCCTGCCTCAAAAAAAAAAGACACACAAGAGAAAAATATCAGCGTGTTGTTTGTTTTTGGTGGAGTTAATTGTGGGGTTCTAGGGAAAGGAATTTAGCTTGGGACATGGAAAGTTTGAGGTTCCTGTAGAGTGTCCCAGTGAAGATTTGTAATAGAGCATCGGATGCGCATATTAGATGGCACTTGGTGATATGATAAGAACTCAAAAAATATTTGAGGAATAAAGGAAAGAAGAGGCCAGACGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCATCATGCGCGTGTAGGGGGCAGTTAAAAAGCAGAAGTAAGAAAGATTGCCTAGGGAGGCAGGAAGGGTGAGGTGAGAGGAGAAGAGGCCCAGGACCAGATTCTAGTCACCAACAGCGTTTAAGGGGCAGGTAAGGAAAACAAAACCATCAGCAAAGACTGAGAATGAAAGCCCAGAGAGGAAGGAAAAGCCACACATACAATCAGTACAGCTCCATCTGAATAAAGGTAGCGCCCCCCCCCCCCCCAAATCATTAGAGAAATGCCTGAATCGTGTTTTCTGTTGATATTTCCTAAGCACCTAGATGTAGGGAATAGAAATAAATGGCTCCCTCTGTCTCATCCCCTTCCTGCCCTCTGAGAGGCAGCTGTGAATGCGTGCTTCCTTTCTGGGGGTGCAGATACTTTCTGGACCAACCCTCAGTACCGTCTGAAGCTCCTGGAGGAGGACGATGACCCTGATGACTCGGAGGTGATTTGCAGCTTCCTGGTGGCCCTGATGCAGAAGAACTGGCGGAAGGACCGGAAGCTAGGGGCCAGTCTCTTCACCATTGGCTTCGCCATCTACGAGGTGTGCAGTCCTGATTGGCTCCAGCCCAGGAAACATACTTTCCCAGGGAGGACGCTTCCAGGGGCTTCTAGAGGGGCCCTCTGGCTTCCTCAATACCCAGTGACCCACAGAGCTCCTGGTATCAGGACCACTTGTGTTTGTAACAAGCAAAAAATACCAGGGGGGGCATTAGAGAGGCAGTGGAGCGGGCCTGGCAGAACAGGTGCCTGGGGGTCAGGCTTCCGCATGCGGGCTGCAGTTGCTGGCATTGCCTTCCGCAGGCTCCTCATCCTCATTCACATCTGAAGCATCTTCCTTTCTGTTTCTTCTCAAGGTTCCCAAAGAGGTATAGCAGCAGCAGCGGCCAGCAGTTGTGTGCAGCACTACCCAGGGGGCCCCGAGTCTGTCTGTGGCTCGTCGAGAAGCTTCCTGGTGGGGTTTGTGGGCAGGACTGTGATAGGAGAGGGCCTTGCCTGTGTTATTTCCACTGCAGAGCAGGTGCCTCAGGGCATTGCATGACCCATGACTACCACCCCCAGGATGTGCACTTTCTCCCTCGCACCAGACACTGCACGTCACACACATGCCTTTGCACACTCACCCTCCTCCACGCTTACAGCCACACACACAGTCACACAGACGCGTTCTGAGGGTGGCTGCCCGCTTGGGATGGAGGAATCACTTCCCTCAGAACCCAGCCAAGTCCTCTAGGCCTCCTTGGGGGTCCTTCCAGCCTGAGGGGCTTCGGAGCTGAGGAGCAGCTGTTCTGGTAAGTGTCCCTGAGTGTGGGGATGACACATTTGCCATTCACTCTGAATCACAACAGAAAAGGAAGAGGAAGTGAGGTAGGGAGGCTATTTAAGCCTTGGGAGTCGGAAGTAGGGAGGTTGAAACTGTGACATGGGTGACCAGGGAGTTGGGAAGGGACCCTTGGAGGTGGCTGTGGCAGGACAGGATGTTCCTCCCGAGGGGCTCATGTGCCCTGGGCTCTCCCCATCTCTCAGATGCACGGGAACAAGCAGCACCTGCAGAAGGACTTCTTCCTGTACAACGCCTCCAAGGCCAGGAGCAAAACCTACATCAACATGCGGGAGGTGTCCCAGCGCTTCCGCCTGCCTCCCAGCGAGTACGTCATCGTGCCCTCCACCTACGAGCCCCACCAGGAGGGGGAATTCATCCTCCGGGTCTTCTCTGAAAAGAGGAACCTCTCTGAGTGAGTGCTGGCCCAGCTTTCCCACGTGTTTCTAAAAGCTCACATGGCCCACTCCAGAGGTTGAAGGCATGAGGCAGCTAGACACGTCTCCTCCAGGGTCCTTCTGCTGCTCCTGAGCCACTGGCCACATTACCCCCATTCATTCATTCATCCATTCTGTGATATTTATTGAGCACCTACTATGTTCCAGGCACTGTCCTAGGCACTAAGGATAGAGTAGTGAAGTAAACAGAAAGAAATCCCTGCCTTCATGGAGCTTAATATTCTAACATGAGACAATAATGGATAGGAAAAACATATGTAGCATGTTAGATTTGGAGAGGTGATATGGAGCAAAAATAAAGTAGGGAAGAGGGATAGGAGGTGTTGGGGATGCTTGAAATTTTAGGTTAGCATGGCCAGGAAAGCCACATCCTGTCCCTGGCCACCACAGATGAGCTCATAGCCCCTGCCACTCTGATCTCTGTCCTTGGAAGATGCACCAGGTCCATGGGTAGGTGGCTGGGTCATGCCTTTGGGGGGCTCTGAGCAATACTAACAAGAACCTGCGTGCCTGGGCTTGGCTGTCGGGGATGGTGCTGACATGGGGCTGGTTCCTGGGGTTGGGGTGTTCCAGGGGTTCTCTAGAGGCTGGTTCTGGCTTGGCTGCCAGGAAGCCGTGCACCAGAGCAAACCGTCCACGGGCCTCCTGCTTGCTTCTGGTGACACTGAGACCCCACATGTCTGTATTCCTCACAGGGAAGTTGAAAATACCATCTCCGTGGATCGGCCAGTGGTGAGTGGTTTAGATCTTCTG
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Task1_train_20578
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A variant was discovered in gene CAPN3 (calpain 3), Chromosome 15. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Muscular dystrophy, limb-girdle, autosomal dominant 4
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CAGAAGAAGCCTAACTAGTGCTTATTAAGTCTCTCTGTTCCAGACGTCCACTATCTTATTAAACCTTCCCTGTTTTACTGAGAAGGAAACCACCATGCTGAGAAGTTTGCAATAGGGAGCTGGTAGCAACTTTGAAGCAGGAAACTGTGGGAACAATGCAGATGCTGCTTGACTTACGATGAGGTTATGTCCAGATAAGCCCATCCATCTTTGAAAATACCCTAAGTGAAAAGTGCATTCAATATGCCTAACCCACCAAACATCATAGCTTAGCCTGGCCTACCTTAAACATGCTCGGAACACTGACCTTAGCCTAAAGTTGGGCAAAATCATCTAACTCAAAGCCTATTTTACAAGAAAGTGTTGAATATCTCATGTAACTTACTTAATACTGTACTAAAAGTGAAAAACAGAATGGTTGTACGGGTACTCGAAATCCAGTTTCTACTGAATGTGCATCTCTTTCACATTGTAAAGTTAAAAAATTGTAGCCGAACCATCCTAAGTCAGGGACTGTGAGTACTGTGTCAGTAACAGTAAGGGCACTATTGGAGAACCAAGTTAGCAGCTGCTGCAATAGTTCAAGTCAGAGATGATGAAAACCTAGACCAAGTCAGTAGCAGCAGAGATGGAGGGGAGACAGCAGATTTAGGGAGAGCATATTGGGTGATGTAGGGAAGGAAGAAGAATGATGTCAAGATTCCCAGTTGGGGACCTGACAACATTGCAACATAAGACACACAAGAAGATCGGGTGGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCAGAGCCAGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCACAGGCAACATAGTGACACCTCATCGTTACAAAAAATAAAAAAAAAAATGAGGTGGGAGGATTGCTTGAGCTCGGGAGGTTGAGGCTACAATAAACTGTGATCATGCCACTGCACTCCTGCCTGGGTGACAGAGTGAGACCCTGCCTCAAAAAAAAAAGACACACAAGAGAAAAATATCAGCGTGTTGTTTGTTTTTGGTGGAGTTAATTGTGGGGTTCTAGGGAAAGGAATTTAGCTTGGGACATGGAAAGTTTGAGGTTCCTGTAGAGTGTCCCAGTGAAGATTTGTAATAGAGCATCGGATGCGCATATTAGATGGCACTTGGTGATATGATAAGAACTCAAAAAATATTTGAGGAATAAAGGAAAGAAGAGGCCAGACGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCATCATGCGCGTGTAGGGGGCAGTTAAAAAGCAGAAGTAAGAAAGATTGCCTAGGGAGGCAGGAAGGGTGAGGTGAGAGGAGAAGAGGCCCAGGACCAGATTCTAGTCACCAACAGCGTTTAAGGGGCAGGTAAGGAAAACAAAACCATCAGCAAAGACTGAGAATGAAAGCCCAGAGAGGAAGGAAAAGCCACACATACAATCAGTACAGCTCCATCTGAATAAAGGTAGCGCCCCCCCCCCCCCCAAATCATTAGAGAAATGCCTGAATCGTGTTTTCTGTTGATATTTCCTAAGCACCTAGATGTAGGGAATAGAAATAAATGGCTCCCTCTGTCTCATCCCCTTCCTGCCCTCTGAGAGGCAGCTGTGAATGCGTGCTTCCTTTCTGGGGGTGCAGATACTTTCTGGACCAACCCTCAGTACCGTCTGAAGCTCCTGGAGGAGGACGATGACCCTGATGACTCGGAGGTGATTTGCAGCTTCCTGGTGGCCCTGATGCAGAAGAACCGGCGGAAGGACCGGAAGCTAGGGGCCAGTCTCTTCACCATTGGCTTCGCCATCTACGAGGTGTGCAGTCCTGATTGGCTCCAGCCCAGGAAACATACTTTCCCAGGGAGGACGCTTCCAGGGGCTTCTAGAGGGGCCCTCTGGCTTCCTCAATACCCAGTGACCCACAGAGCTCCTGGTATCAGGACCACTTGTGTTTGTAACAAGCAAAAAATACCAGGGGGGGCATTAGAGAGGCAGTGGAGCGGGCCTGGCAGAACAGGTGCCTGGGGGTCAGGCTTCCGCATGCGGGCTGCAGTTGCTGGCATTGCCTTCCGCAGGCTCCTCATCCTCATTCACATCTGAAGCATCTTCCTTTCTGTTTCTTCTCAAGGTTCCCAAAGAGGTATAGCAGCAGCAGCGGCCAGCAGTTGTGTGCAGCACTACCCAGGGGGCCCCGAGTCTGTCTGTGGCTCGTCGAGAAGCTTCCTGGTGGGGTTTGTGGGCAGGACTGTGATAGGAGAGGGCCTTGCCTGTGTTATTTCCACTGCAGAGCAGGTGCCTCAGGGCATTGCATGACCCATGACTACCACCCCCAGGATGTGCACTTTCTCCCTCGCACCAGACACTGCACGTCACACACATGCCTTTGCACACTCACCCTCCTCCACGCTTACAGCCACACACACAGTCACACAGACGCGTTCTGAGGGTGGCTGCCCGCTTGGGATGGAGGAATCACTTCCCTCAGAACCCAGCCAAGTCCTCTAGGCCTCCTTGGGGGTCCTTCCAGCCTGAGGGGCTTCGGAGCTGAGGAGCAGCTGTTCTGGTAAGTGTCCCTGAGTGTGGGGATGACACATTTGCCATTCACTCTGAATCACAACAGAAAAGGAAGAGGAAGTGAGGTAGGGAGGCTATTTAAGCCTTGGGAGTCGGAAGTAGGGAGGTTGAAACTGTGACATGGGTGACCAGGGAGTTGGGAAGGGACCCTTGGAGGTGGCTGTGGCAGGACAGGATGTTCCTCCCGAGGGGCTCATGTGCCCTGGGCTCTCCCCATCTCTCAGATGCACGGGAACAAGCAGCACCTGCAGAAGGACTTCTTCCTGTACAACGCCTCCAAGGCCAGGAGCAAAACCTACATCAACATGCGGGAGGTGTCCCAGCGCTTCCGCCTGCCTCCCAGCGAGTACGTCATCGTGCCCTCCACCTACGAGCCCCACCAGGAGGGGGAATTCATCCTCCGGGTCTTCTCTGAAAAGAGGAACCTCTCTGAGTGAGTGCTGGCCCAGCTTTCCCACGTGTTTCTAAAAGCTCACATGGCCCACTCCAGAGGTTGAAGGCATGAGGCAGCTAGACACGTCTCCTCCAGGGTCCTTCTGCTGCTCCTGAGCCACTGGCCACATTACCCCCATTCATTCATTCATCCATTCTGTGATATTTATTGAGCACCTACTATGTTCCAGGCACTGTCCTAGGCACTAAGGATAGAGTAGTGAAGTAAACAGAAAGAAATCCCTGCCTTCATGGAGCTTAATATTCTAACATGAGACAATAATGGATAGGAAAAACATATGTAGCATGTTAGATTTGGAGAGGTGATATGGAGCAAAAATAAAGTAGGGAAGAGGGATAGGAGGTGTTGGGGATGCTTGAAATTTTAGGTTAGCATGGCCAGGAAAGCCACATCCTGTCCCTGGCCACCACAGATGAGCTCATAGCCCCTGCCACTCTGATCTCTGTCCTTGGAAGATGCACCAGGTCCATGGGTAGGTGGCTGGGTCATGCCTTTGGGGGGCTCTGAGCAATACTAACAAGAACCTGCGTGCCTGGGCTTGGCTGTCGGGGATGGTGCTGACATGGGGCTGGTTCCTGGGGTTGGGGTGTTCCAGGGGTTCTCTAGAGGCTGGTTCTGGCTTGGCTGCCAGGAAGCCGTGCACCAGAGCAAACCGTCCACGGGCCTCCTGCTTGCTTCTGGTGACACTGAGACCCCACATGTCTGTATTCCTCACAGGGAAGTTGAAAATACCATCTCCGTGGATCGGCCAGTGGTGAGTGGTTTAGATCTTCTG
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CAGAAGAAGCCTAACTAGTGCTTATTAAGTCTCTCTGTTCCAGACGTCCACTATCTTATTAAACCTTCCCTGTTTTACTGAGAAGGAAACCACCATGCTGAGAAGTTTGCAATAGGGAGCTGGTAGCAACTTTGAAGCAGGAAACTGTGGGAACAATGCAGATGCTGCTTGACTTACGATGAGGTTATGTCCAGATAAGCCCATCCATCTTTGAAAATACCCTAAGTGAAAAGTGCATTCAATATGCCTAACCCACCAAACATCATAGCTTAGCCTGGCCTACCTTAAACATGCTCGGAACACTGACCTTAGCCTAAAGTTGGGCAAAATCATCTAACTCAAAGCCTATTTTACAAGAAAGTGTTGAATATCTCATGTAACTTACTTAATACTGTACTAAAAGTGAAAAACAGAATGGTTGTACGGGTACTCGAAATCCAGTTTCTACTGAATGTGCATCTCTTTCACATTGTAAAGTTAAAAAATTGTAGCCGAACCATCCTAAGTCAGGGACTGTGAGTACTGTGTCAGTAACAGTAAGGGCACTATTGGAGAACCAAGTTAGCAGCTGCTGCAATAGTTCAAGTCAGAGATGATGAAAACCTAGACCAAGTCAGTAGCAGCAGAGATGGAGGGGAGACAGCAGATTTAGGGAGAGCATATTGGGTGATGTAGGGAAGGAAGAAGAATGATGTCAAGATTCCCAGTTGGGGACCTGACAACATTGCAACATAAGACACACAAGAAGATCGGGTGGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCAGAGCCAGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCACAGGCAACATAGTGACACCTCATCGTTACAAAAAATAAAAAAAAAAATGAGGTGGGAGGATTGCTTGAGCTCGGGAGGTTGAGGCTACAATAAACTGTGATCATGCCACTGCACTCCTGCCTGGGTGACAGAGTGAGACCCTGCCTCAAAAAAAAAAGACACACAAGAGAAAAATATCAGCGTGTTGTTTGTTTTTGGTGGAGTTAATTGTGGGGTTCTAGGGAAAGGAATTTAGCTTGGGACATGGAAAGTTTGAGGTTCCTGTAGAGTGTCCCAGTGAAGATTTGTAATAGAGCATCGGATGCGCATATTAGATGGCACTTGGTGATATGATAAGAACTCAAAAAATATTTGAGGAATAAAGGAAAGAAGAGGCCAGACGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCATCATGCGCGTGTAGGGGGCAGTTAAAAAGCAGAAGTAAGAAAGATTGCCTAGGGAGGCAGGAAGGGTGAGGTGAGAGGAGAAGAGGCCCAGGACCAGATTCTAGTCACCAACAGCGTTTAAGGGGCAGGTAAGGAAAACAAAACCATCAGCAAAGACTGAGAATGAAAGCCCAGAGAGGAAGGAAAAGCCACACATACAATCAGTACAGCTCCATCTGAATAAAGGTAGCGCCCCCCCCCCCCCCAAATCATTAGAGAAATGCCTGAATCGTGTTTTCTGTTGATATTTCCTAAGCACCTAGATGTAGGGAATAGAAATAAATGGCTCCCTCTGTCTCATCCCCTTCCTGCCCTCTGAGAGGCAGCTGTGAATGCGTGCTTCCTTTCTGGGGGTGCAGATACTTTCTGGACCAACCCTCAGTACCGTCTGAAGCTCCTGGAGGAGGACGATGACCCTGATGACTCGGAGGTGATTTGCAGCTTCCTGGTGGCCCTGATGCAGAAGAACTGGCGGAAGGACCGGAAGCTAGGGGCCAGTCTCTTCACCATTGGCTTCGCCATCTACGAGGTGTGCAGTCCTGATTGGCTCCAGCCCAGGAAACATACTTTCCCAGGGAGGACGCTTCCAGGGGCTTCTAGAGGGGCCCTCTGGCTTCCTCAATACCCAGTGACCCACAGAGCTCCTGGTATCAGGACCACTTGTGTTTGTAACAAGCAAAAAATACCAGGGGGGGCATTAGAGAGGCAGTGGAGCGGGCCTGGCAGAACAGGTGCCTGGGGGTCAGGCTTCCGCATGCGGGCTGCAGTTGCTGGCATTGCCTTCCGCAGGCTCCTCATCCTCATTCACATCTGAAGCATCTTCCTTTCTGTTTCTTCTCAAGGTTCCCAAAGAGGTATAGCAGCAGCAGCGGCCAGCAGTTGTGTGCAGCACTACCCAGGGGGCCCCGAGTCTGTCTGTGGCTCGTCGAGAAGCTTCCTGGTGGGGTTTGTGGGCAGGACTGTGATAGGAGAGGGCCTTGCCTGTGTTATTTCCACTGCAGAGCAGGTGCCTCAGGGCATTGCATGACCCATGACTACCACCCCCAGGATGTGCACTTTCTCCCTCGCACCAGACACTGCACGTCACACACATGCCTTTGCACACTCACCCTCCTCCACGCTTACAGCCACACACACAGTCACACAGACGCGTTCTGAGGGTGGCTGCCCGCTTGGGATGGAGGAATCACTTCCCTCAGAACCCAGCCAAGTCCTCTAGGCCTCCTTGGGGGTCCTTCCAGCCTGAGGGGCTTCGGAGCTGAGGAGCAGCTGTTCTGGTAAGTGTCCCTGAGTGTGGGGATGACACATTTGCCATTCACTCTGAATCACAACAGAAAAGGAAGAGGAAGTGAGGTAGGGAGGCTATTTAAGCCTTGGGAGTCGGAAGTAGGGAGGTTGAAACTGTGACATGGGTGACCAGGGAGTTGGGAAGGGACCCTTGGAGGTGGCTGTGGCAGGACAGGATGTTCCTCCCGAGGGGCTCATGTGCCCTGGGCTCTCCCCATCTCTCAGATGCACGGGAACAAGCAGCACCTGCAGAAGGACTTCTTCCTGTACAACGCCTCCAAGGCCAGGAGCAAAACCTACATCAACATGCGGGAGGTGTCCCAGCGCTTCCGCCTGCCTCCCAGCGAGTACGTCATCGTGCCCTCCACCTACGAGCCCCACCAGGAGGGGGAATTCATCCTCCGGGTCTTCTCTGAAAAGAGGAACCTCTCTGAGTGAGTGCTGGCCCAGCTTTCCCACGTGTTTCTAAAAGCTCACATGGCCCACTCCAGAGGTTGAAGGCATGAGGCAGCTAGACACGTCTCCTCCAGGGTCCTTCTGCTGCTCCTGAGCCACTGGCCACATTACCCCCATTCATTCATTCATCCATTCTGTGATATTTATTGAGCACCTACTATGTTCCAGGCACTGTCCTAGGCACTAAGGATAGAGTAGTGAAGTAAACAGAAAGAAATCCCTGCCTTCATGGAGCTTAATATTCTAACATGAGACAATAATGGATAGGAAAAACATATGTAGCATGTTAGATTTGGAGAGGTGATATGGAGCAAAAATAAAGTAGGGAAGAGGGATAGGAGGTGTTGGGGATGCTTGAAATTTTAGGTTAGCATGGCCAGGAAAGCCACATCCTGTCCCTGGCCACCACAGATGAGCTCATAGCCCCTGCCACTCTGATCTCTGTCCTTGGAAGATGCACCAGGTCCATGGGTAGGTGGCTGGGTCATGCCTTTGGGGGGCTCTGAGCAATACTAACAAGAACCTGCGTGCCTGGGCTTGGCTGTCGGGGATGGTGCTGACATGGGGCTGGTTCCTGGGGTTGGGGTGTTCCAGGGGTTCTCTAGAGGCTGGTTCTGGCTTGGCTGCCAGGAAGCCGTGCACCAGAGCAAACCGTCCACGGGCCTCCTGCTTGCTTCTGGTGACACTGAGACCCCACATGTCTGTATTCCTCACAGGGAAGTTGAAAATACCATCTCCGTGGATCGGCCAGTGGTGAGTGGTTTAGATCTTCTG
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Task1_train_20579
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Consider a variant on Chromosome 15 in gene CAPN3 (calpain 3). Determine its clinical classification and disease relevance.
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Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2A
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CAGAAGAAGCCTAACTAGTGCTTATTAAGTCTCTCTGTTCCAGACGTCCACTATCTTATTAAACCTTCCCTGTTTTACTGAGAAGGAAACCACCATGCTGAGAAGTTTGCAATAGGGAGCTGGTAGCAACTTTGAAGCAGGAAACTGTGGGAACAATGCAGATGCTGCTTGACTTACGATGAGGTTATGTCCAGATAAGCCCATCCATCTTTGAAAATACCCTAAGTGAAAAGTGCATTCAATATGCCTAACCCACCAAACATCATAGCTTAGCCTGGCCTACCTTAAACATGCTCGGAACACTGACCTTAGCCTAAAGTTGGGCAAAATCATCTAACTCAAAGCCTATTTTACAAGAAAGTGTTGAATATCTCATGTAACTTACTTAATACTGTACTAAAAGTGAAAAACAGAATGGTTGTACGGGTACTCGAAATCCAGTTTCTACTGAATGTGCATCTCTTTCACATTGTAAAGTTAAAAAATTGTAGCCGAACCATCCTAAGTCAGGGACTGTGAGTACTGTGTCAGTAACAGTAAGGGCACTATTGGAGAACCAAGTTAGCAGCTGCTGCAATAGTTCAAGTCAGAGATGATGAAAACCTAGACCAAGTCAGTAGCAGCAGAGATGGAGGGGAGACAGCAGATTTAGGGAGAGCATATTGGGTGATGTAGGGAAGGAAGAAGAATGATGTCAAGATTCCCAGTTGGGGACCTGACAACATTGCAACATAAGACACACAAGAAGATCGGGTGGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCAGAGCCAGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCACAGGCAACATAGTGACACCTCATCGTTACAAAAAATAAAAAAAAAAATGAGGTGGGAGGATTGCTTGAGCTCGGGAGGTTGAGGCTACAATAAACTGTGATCATGCCACTGCACTCCTGCCTGGGTGACAGAGTGAGACCCTGCCTCAAAAAAAAAAGACACACAAGAGAAAAATATCAGCGTGTTGTTTGTTTTTGGTGGAGTTAATTGTGGGGTTCTAGGGAAAGGAATTTAGCTTGGGACATGGAAAGTTTGAGGTTCCTGTAGAGTGTCCCAGTGAAGATTTGTAATAGAGCATCGGATGCGCATATTAGATGGCACTTGGTGATATGATAAGAACTCAAAAAATATTTGAGGAATAAAGGAAAGAAGAGGCCAGACGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCATCATGCGCGTGTAGGGGGCAGTTAAAAAGCAGAAGTAAGAAAGATTGCCTAGGGAGGCAGGAAGGGTGAGGTGAGAGGAGAAGAGGCCCAGGACCAGATTCTAGTCACCAACAGCGTTTAAGGGGCAGGTAAGGAAAACAAAACCATCAGCAAAGACTGAGAATGAAAGCCCAGAGAGGAAGGAAAAGCCACACATACAATCAGTACAGCTCCATCTGAATAAAGGTAGCGCCCCCCCCCCCCCCAAATCATTAGAGAAATGCCTGAATCGTGTTTTCTGTTGATATTTCCTAAGCACCTAGATGTAGGGAATAGAAATAAATGGCTCCCTCTGTCTCATCCCCTTCCTGCCCTCTGAGAGGCAGCTGTGAATGCGTGCTTCCTTTCTGGGGGTGCAGATACTTTCTGGACCAACCCTCAGTACCGTCTGAAGCTCCTGGAGGAGGACGATGACCCTGATGACTCGGAGGTGATTTGCAGCTTCCTGGTGGCCCTGATGCAGAAGAACCGGCGGAAGGACCGGAAGCTAGGGGCCAGTCTCTTCACCATTGGCTTCGCCATCTACGAGGTGTGCAGTCCTGATTGGCTCCAGCCCAGGAAACATACTTTCCCAGGGAGGACGCTTCCAGGGGCTTCTAGAGGGGCCCTCTGGCTTCCTCAATACCCAGTGACCCACAGAGCTCCTGGTATCAGGACCACTTGTGTTTGTAACAAGCAAAAAATACCAGGGGGGGCATTAGAGAGGCAGTGGAGCGGGCCTGGCAGAACAGGTGCCTGGGGGTCAGGCTTCCGCATGCGGGCTGCAGTTGCTGGCATTGCCTTCCGCAGGCTCCTCATCCTCATTCACATCTGAAGCATCTTCCTTTCTGTTTCTTCTCAAGGTTCCCAAAGAGGTATAGCAGCAGCAGCGGCCAGCAGTTGTGTGCAGCACTACCCAGGGGGCCCCGAGTCTGTCTGTGGCTCGTCGAGAAGCTTCCTGGTGGGGTTTGTGGGCAGGACTGTGATAGGAGAGGGCCTTGCCTGTGTTATTTCCACTGCAGAGCAGGTGCCTCAGGGCATTGCATGACCCATGACTACCACCCCCAGGATGTGCACTTTCTCCCTCGCACCAGACACTGCACGTCACACACATGCCTTTGCACACTCACCCTCCTCCACGCTTACAGCCACACACACAGTCACACAGACGCGTTCTGAGGGTGGCTGCCCGCTTGGGATGGAGGAATCACTTCCCTCAGAACCCAGCCAAGTCCTCTAGGCCTCCTTGGGGGTCCTTCCAGCCTGAGGGGCTTCGGAGCTGAGGAGCAGCTGTTCTGGTAAGTGTCCCTGAGTGTGGGGATGACACATTTGCCATTCACTCTGAATCACAACAGAAAAGGAAGAGGAAGTGAGGTAGGGAGGCTATTTAAGCCTTGGGAGTCGGAAGTAGGGAGGTTGAAACTGTGACATGGGTGACCAGGGAGTTGGGAAGGGACCCTTGGAGGTGGCTGTGGCAGGACAGGATGTTCCTCCCGAGGGGCTCATGTGCCCTGGGCTCTCCCCATCTCTCAGATGCACGGGAACAAGCAGCACCTGCAGAAGGACTTCTTCCTGTACAACGCCTCCAAGGCCAGGAGCAAAACCTACATCAACATGCGGGAGGTGTCCCAGCGCTTCCGCCTGCCTCCCAGCGAGTACGTCATCGTGCCCTCCACCTACGAGCCCCACCAGGAGGGGGAATTCATCCTCCGGGTCTTCTCTGAAAAGAGGAACCTCTCTGAGTGAGTGCTGGCCCAGCTTTCCCACGTGTTTCTAAAAGCTCACATGGCCCACTCCAGAGGTTGAAGGCATGAGGCAGCTAGACACGTCTCCTCCAGGGTCCTTCTGCTGCTCCTGAGCCACTGGCCACATTACCCCCATTCATTCATTCATCCATTCTGTGATATTTATTGAGCACCTACTATGTTCCAGGCACTGTCCTAGGCACTAAGGATAGAGTAGTGAAGTAAACAGAAAGAAATCCCTGCCTTCATGGAGCTTAATATTCTAACATGAGACAATAATGGATAGGAAAAACATATGTAGCATGTTAGATTTGGAGAGGTGATATGGAGCAAAAATAAAGTAGGGAAGAGGGATAGGAGGTGTTGGGGATGCTTGAAATTTTAGGTTAGCATGGCCAGGAAAGCCACATCCTGTCCCTGGCCACCACAGATGAGCTCATAGCCCCTGCCACTCTGATCTCTGTCCTTGGAAGATGCACCAGGTCCATGGGTAGGTGGCTGGGTCATGCCTTTGGGGGGCTCTGAGCAATACTAACAAGAACCTGCGTGCCTGGGCTTGGCTGTCGGGGATGGTGCTGACATGGGGCTGGTTCCTGGGGTTGGGGTGTTCCAGGGGTTCTCTAGAGGCTGGTTCTGGCTTGGCTGCCAGGAAGCCGTGCACCAGAGCAAACCGTCCACGGGCCTCCTGCTTGCTTCTGGTGACACTGAGACCCCACATGTCTGTATTCCTCACAGGGAAGTTGAAAATACCATCTCCGTGGATCGGCCAGTGGTGAGTGGTTTAGATCTTCTG
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CAGAAGAAGCCTAACTAGTGCTTATTAAGTCTCTCTGTTCCAGACGTCCACTATCTTATTAAACCTTCCCTGTTTTACTGAGAAGGAAACCACCATGCTGAGAAGTTTGCAATAGGGAGCTGGTAGCAACTTTGAAGCAGGAAACTGTGGGAACAATGCAGATGCTGCTTGACTTACGATGAGGTTATGTCCAGATAAGCCCATCCATCTTTGAAAATACCCTAAGTGAAAAGTGCATTCAATATGCCTAACCCACCAAACATCATAGCTTAGCCTGGCCTACCTTAAACATGCTCGGAACACTGACCTTAGCCTAAAGTTGGGCAAAATCATCTAACTCAAAGCCTATTTTACAAGAAAGTGTTGAATATCTCATGTAACTTACTTAATACTGTACTAAAAGTGAAAAACAGAATGGTTGTACGGGTACTCGAAATCCAGTTTCTACTGAATGTGCATCTCTTTCACATTGTAAAGTTAAAAAATTGTAGCCGAACCATCCTAAGTCAGGGACTGTGAGTACTGTGTCAGTAACAGTAAGGGCACTATTGGAGAACCAAGTTAGCAGCTGCTGCAATAGTTCAAGTCAGAGATGATGAAAACCTAGACCAAGTCAGTAGCAGCAGAGATGGAGGGGAGACAGCAGATTTAGGGAGAGCATATTGGGTGATGTAGGGAAGGAAGAAGAATGATGTCAAGATTCCCAGTTGGGGACCTGACAACATTGCAACATAAGACACACAAGAAGATCGGGTGGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCAGAGCCAGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCACAGGCAACATAGTGACACCTCATCGTTACAAAAAATAAAAAAAAAAATGAGGTGGGAGGATTGCTTGAGCTCGGGAGGTTGAGGCTACAATAAACTGTGATCATGCCACTGCACTCCTGCCTGGGTGACAGAGTGAGACCCTGCCTCAAAAAAAAAAGACACACAAGAGAAAAATATCAGCGTGTTGTTTGTTTTTGGTGGAGTTAATTGTGGGGTTCTAGGGAAAGGAATTTAGCTTGGGACATGGAAAGTTTGAGGTTCCTGTAGAGTGTCCCAGTGAAGATTTGTAATAGAGCATCGGATGCGCATATTAGATGGCACTTGGTGATATGATAAGAACTCAAAAAATATTTGAGGAATAAAGGAAAGAAGAGGCCAGACGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCATCATGCGCGTGTAGGGGGCAGTTAAAAAGCAGAAGTAAGAAAGATTGCCTAGGGAGGCAGGAAGGGTGAGGTGAGAGGAGAAGAGGCCCAGGACCAGATTCTAGTCACCAACAGCGTTTAAGGGGCAGGTAAGGAAAACAAAACCATCAGCAAAGACTGAGAATGAAAGCCCAGAGAGGAAGGAAAAGCCACACATACAATCAGTACAGCTCCATCTGAATAAAGGTAGCGCCCCCCCCCCCCCCAAATCATTAGAGAAATGCCTGAATCGTGTTTTCTGTTGATATTTCCTAAGCACCTAGATGTAGGGAATAGAAATAAATGGCTCCCTCTGTCTCATCCCCTTCCTGCCCTCTGAGAGGCAGCTGTGAATGCGTGCTTCCTTTCTGGGGGTGCAGATACTTTCTGGACCAACCCTCAGTACCGTCTGAAGCTCCTGGAGGAGGACGATGACCCTGATGACTCGGAGGTGATTTGCAGCTTCCTGGTGGCCCTGATGCAGAAGAACTGGCGGAAGGACCGGAAGCTAGGGGCCAGTCTCTTCACCATTGGCTTCGCCATCTACGAGGTGTGCAGTCCTGATTGGCTCCAGCCCAGGAAACATACTTTCCCAGGGAGGACGCTTCCAGGGGCTTCTAGAGGGGCCCTCTGGCTTCCTCAATACCCAGTGACCCACAGAGCTCCTGGTATCAGGACCACTTGTGTTTGTAACAAGCAAAAAATACCAGGGGGGGCATTAGAGAGGCAGTGGAGCGGGCCTGGCAGAACAGGTGCCTGGGGGTCAGGCTTCCGCATGCGGGCTGCAGTTGCTGGCATTGCCTTCCGCAGGCTCCTCATCCTCATTCACATCTGAAGCATCTTCCTTTCTGTTTCTTCTCAAGGTTCCCAAAGAGGTATAGCAGCAGCAGCGGCCAGCAGTTGTGTGCAGCACTACCCAGGGGGCCCCGAGTCTGTCTGTGGCTCGTCGAGAAGCTTCCTGGTGGGGTTTGTGGGCAGGACTGTGATAGGAGAGGGCCTTGCCTGTGTTATTTCCACTGCAGAGCAGGTGCCTCAGGGCATTGCATGACCCATGACTACCACCCCCAGGATGTGCACTTTCTCCCTCGCACCAGACACTGCACGTCACACACATGCCTTTGCACACTCACCCTCCTCCACGCTTACAGCCACACACACAGTCACACAGACGCGTTCTGAGGGTGGCTGCCCGCTTGGGATGGAGGAATCACTTCCCTCAGAACCCAGCCAAGTCCTCTAGGCCTCCTTGGGGGTCCTTCCAGCCTGAGGGGCTTCGGAGCTGAGGAGCAGCTGTTCTGGTAAGTGTCCCTGAGTGTGGGGATGACACATTTGCCATTCACTCTGAATCACAACAGAAAAGGAAGAGGAAGTGAGGTAGGGAGGCTATTTAAGCCTTGGGAGTCGGAAGTAGGGAGGTTGAAACTGTGACATGGGTGACCAGGGAGTTGGGAAGGGACCCTTGGAGGTGGCTGTGGCAGGACAGGATGTTCCTCCCGAGGGGCTCATGTGCCCTGGGCTCTCCCCATCTCTCAGATGCACGGGAACAAGCAGCACCTGCAGAAGGACTTCTTCCTGTACAACGCCTCCAAGGCCAGGAGCAAAACCTACATCAACATGCGGGAGGTGTCCCAGCGCTTCCGCCTGCCTCCCAGCGAGTACGTCATCGTGCCCTCCACCTACGAGCCCCACCAGGAGGGGGAATTCATCCTCCGGGTCTTCTCTGAAAAGAGGAACCTCTCTGAGTGAGTGCTGGCCCAGCTTTCCCACGTGTTTCTAAAAGCTCACATGGCCCACTCCAGAGGTTGAAGGCATGAGGCAGCTAGACACGTCTCCTCCAGGGTCCTTCTGCTGCTCCTGAGCCACTGGCCACATTACCCCCATTCATTCATTCATCCATTCTGTGATATTTATTGAGCACCTACTATGTTCCAGGCACTGTCCTAGGCACTAAGGATAGAGTAGTGAAGTAAACAGAAAGAAATCCCTGCCTTCATGGAGCTTAATATTCTAACATGAGACAATAATGGATAGGAAAAACATATGTAGCATGTTAGATTTGGAGAGGTGATATGGAGCAAAAATAAAGTAGGGAAGAGGGATAGGAGGTGTTGGGGATGCTTGAAATTTTAGGTTAGCATGGCCAGGAAAGCCACATCCTGTCCCTGGCCACCACAGATGAGCTCATAGCCCCTGCCACTCTGATCTCTGTCCTTGGAAGATGCACCAGGTCCATGGGTAGGTGGCTGGGTCATGCCTTTGGGGGGCTCTGAGCAATACTAACAAGAACCTGCGTGCCTGGGCTTGGCTGTCGGGGATGGTGCTGACATGGGGCTGGTTCCTGGGGTTGGGGTGTTCCAGGGGTTCTCTAGAGGCTGGTTCTGGCTTGGCTGCCAGGAAGCCGTGCACCAGAGCAAACCGTCCACGGGCCTCCTGCTTGCTTCTGGTGACACTGAGACCCCACATGTCTGTATTCCTCACAGGGAAGTTGAAAATACCATCTCCGTGGATCGGCCAGTGGTGAGTGGTTTAGATCTTCTG
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Task1_train_20580
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A variant on Chromosome 15 in gene CAPN3 (calpain 3) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Autosomal recessive limb-girdle muscular dystrophy
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AGAAGCCTAACTAGTGCTTATTAAGTCTCTCTGTTCCAGACGTCCACTATCTTATTAAACCTTCCCTGTTTTACTGAGAAGGAAACCACCATGCTGAGAAGTTTGCAATAGGGAGCTGGTAGCAACTTTGAAGCAGGAAACTGTGGGAACAATGCAGATGCTGCTTGACTTACGATGAGGTTATGTCCAGATAAGCCCATCCATCTTTGAAAATACCCTAAGTGAAAAGTGCATTCAATATGCCTAACCCACCAAACATCATAGCTTAGCCTGGCCTACCTTAAACATGCTCGGAACACTGACCTTAGCCTAAAGTTGGGCAAAATCATCTAACTCAAAGCCTATTTTACAAGAAAGTGTTGAATATCTCATGTAACTTACTTAATACTGTACTAAAAGTGAAAAACAGAATGGTTGTACGGGTACTCGAAATCCAGTTTCTACTGAATGTGCATCTCTTTCACATTGTAAAGTTAAAAAATTGTAGCCGAACCATCCTAAGTCAGGGACTGTGAGTACTGTGTCAGTAACAGTAAGGGCACTATTGGAGAACCAAGTTAGCAGCTGCTGCAATAGTTCAAGTCAGAGATGATGAAAACCTAGACCAAGTCAGTAGCAGCAGAGATGGAGGGGAGACAGCAGATTTAGGGAGAGCATATTGGGTGATGTAGGGAAGGAAGAAGAATGATGTCAAGATTCCCAGTTGGGGACCTGACAACATTGCAACATAAGACACACAAGAAGATCGGGTGGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCAGAGCCAGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCACAGGCAACATAGTGACACCTCATCGTTACAAAAAATAAAAAAAAAAATGAGGTGGGAGGATTGCTTGAGCTCGGGAGGTTGAGGCTACAATAAACTGTGATCATGCCACTGCACTCCTGCCTGGGTGACAGAGTGAGACCCTGCCTCAAAAAAAAAAGACACACAAGAGAAAAATATCAGCGTGTTGTTTGTTTTTGGTGGAGTTAATTGTGGGGTTCTAGGGAAAGGAATTTAGCTTGGGACATGGAAAGTTTGAGGTTCCTGTAGAGTGTCCCAGTGAAGATTTGTAATAGAGCATCGGATGCGCATATTAGATGGCACTTGGTGATATGATAAGAACTCAAAAAATATTTGAGGAATAAAGGAAAGAAGAGGCCAGACGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCATCATGCGCGTGTAGGGGGCAGTTAAAAAGCAGAAGTAAGAAAGATTGCCTAGGGAGGCAGGAAGGGTGAGGTGAGAGGAGAAGAGGCCCAGGACCAGATTCTAGTCACCAACAGCGTTTAAGGGGCAGGTAAGGAAAACAAAACCATCAGCAAAGACTGAGAATGAAAGCCCAGAGAGGAAGGAAAAGCCACACATACAATCAGTACAGCTCCATCTGAATAAAGGTAGCGCCCCCCCCCCCCCCAAATCATTAGAGAAATGCCTGAATCGTGTTTTCTGTTGATATTTCCTAAGCACCTAGATGTAGGGAATAGAAATAAATGGCTCCCTCTGTCTCATCCCCTTCCTGCCCTCTGAGAGGCAGCTGTGAATGCGTGCTTCCTTTCTGGGGGTGCAGATACTTTCTGGACCAACCCTCAGTACCGTCTGAAGCTCCTGGAGGAGGACGATGACCCTGATGACTCGGAGGTGATTTGCAGCTTCCTGGTGGCCCTGATGCAGAAGAACCGGCGGAAGGACCGGAAGCTAGGGGCCAGTCTCTTCACCATTGGCTTCGCCATCTACGAGGTGTGCAGTCCTGATTGGCTCCAGCCCAGGAAACATACTTTCCCAGGGAGGACGCTTCCAGGGGCTTCTAGAGGGGCCCTCTGGCTTCCTCAATACCCAGTGACCCACAGAGCTCCTGGTATCAGGACCACTTGTGTTTGTAACAAGCAAAAAATACCAGGGGGGGCATTAGAGAGGCAGTGGAGCGGGCCTGGCAGAACAGGTGCCTGGGGGTCAGGCTTCCGCATGCGGGCTGCAGTTGCTGGCATTGCCTTCCGCAGGCTCCTCATCCTCATTCACATCTGAAGCATCTTCCTTTCTGTTTCTTCTCAAGGTTCCCAAAGAGGTATAGCAGCAGCAGCGGCCAGCAGTTGTGTGCAGCACTACCCAGGGGGCCCCGAGTCTGTCTGTGGCTCGTCGAGAAGCTTCCTGGTGGGGTTTGTGGGCAGGACTGTGATAGGAGAGGGCCTTGCCTGTGTTATTTCCACTGCAGAGCAGGTGCCTCAGGGCATTGCATGACCCATGACTACCACCCCCAGGATGTGCACTTTCTCCCTCGCACCAGACACTGCACGTCACACACATGCCTTTGCACACTCACCCTCCTCCACGCTTACAGCCACACACACAGTCACACAGACGCGTTCTGAGGGTGGCTGCCCGCTTGGGATGGAGGAATCACTTCCCTCAGAACCCAGCCAAGTCCTCTAGGCCTCCTTGGGGGTCCTTCCAGCCTGAGGGGCTTCGGAGCTGAGGAGCAGCTGTTCTGGTAAGTGTCCCTGAGTGTGGGGATGACACATTTGCCATTCACTCTGAATCACAACAGAAAAGGAAGAGGAAGTGAGGTAGGGAGGCTATTTAAGCCTTGGGAGTCGGAAGTAGGGAGGTTGAAACTGTGACATGGGTGACCAGGGAGTTGGGAAGGGACCCTTGGAGGTGGCTGTGGCAGGACAGGATGTTCCTCCCGAGGGGCTCATGTGCCCTGGGCTCTCCCCATCTCTCAGATGCACGGGAACAAGCAGCACCTGCAGAAGGACTTCTTCCTGTACAACGCCTCCAAGGCCAGGAGCAAAACCTACATCAACATGCGGGAGGTGTCCCAGCGCTTCCGCCTGCCTCCCAGCGAGTACGTCATCGTGCCCTCCACCTACGAGCCCCACCAGGAGGGGGAATTCATCCTCCGGGTCTTCTCTGAAAAGAGGAACCTCTCTGAGTGAGTGCTGGCCCAGCTTTCCCACGTGTTTCTAAAAGCTCACATGGCCCACTCCAGAGGTTGAAGGCATGAGGCAGCTAGACACGTCTCCTCCAGGGTCCTTCTGCTGCTCCTGAGCCACTGGCCACATTACCCCCATTCATTCATTCATCCATTCTGTGATATTTATTGAGCACCTACTATGTTCCAGGCACTGTCCTAGGCACTAAGGATAGAGTAGTGAAGTAAACAGAAAGAAATCCCTGCCTTCATGGAGCTTAATATTCTAACATGAGACAATAATGGATAGGAAAAACATATGTAGCATGTTAGATTTGGAGAGGTGATATGGAGCAAAAATAAAGTAGGGAAGAGGGATAGGAGGTGTTGGGGATGCTTGAAATTTTAGGTTAGCATGGCCAGGAAAGCCACATCCTGTCCCTGGCCACCACAGATGAGCTCATAGCCCCTGCCACTCTGATCTCTGTCCTTGGAAGATGCACCAGGTCCATGGGTAGGTGGCTGGGTCATGCCTTTGGGGGGCTCTGAGCAATACTAACAAGAACCTGCGTGCCTGGGCTTGGCTGTCGGGGATGGTGCTGACATGGGGCTGGTTCCTGGGGTTGGGGTGTTCCAGGGGTTCTCTAGAGGCTGGTTCTGGCTTGGCTGCCAGGAAGCCGTGCACCAGAGCAAACCGTCCACGGGCCTCCTGCTTGCTTCTGGTGACACTGAGACCCCACATGTCTGTATTCCTCACAGGGAAGTTGAAAATACCATCTCCGTGGATCGGCCAGTGGTGAGTGGTTTAGATCTTCTGTGCG
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AGAAGCCTAACTAGTGCTTATTAAGTCTCTCTGTTCCAGACGTCCACTATCTTATTAAACCTTCCCTGTTTTACTGAGAAGGAAACCACCATGCTGAGAAGTTTGCAATAGGGAGCTGGTAGCAACTTTGAAGCAGGAAACTGTGGGAACAATGCAGATGCTGCTTGACTTACGATGAGGTTATGTCCAGATAAGCCCATCCATCTTTGAAAATACCCTAAGTGAAAAGTGCATTCAATATGCCTAACCCACCAAACATCATAGCTTAGCCTGGCCTACCTTAAACATGCTCGGAACACTGACCTTAGCCTAAAGTTGGGCAAAATCATCTAACTCAAAGCCTATTTTACAAGAAAGTGTTGAATATCTCATGTAACTTACTTAATACTGTACTAAAAGTGAAAAACAGAATGGTTGTACGGGTACTCGAAATCCAGTTTCTACTGAATGTGCATCTCTTTCACATTGTAAAGTTAAAAAATTGTAGCCGAACCATCCTAAGTCAGGGACTGTGAGTACTGTGTCAGTAACAGTAAGGGCACTATTGGAGAACCAAGTTAGCAGCTGCTGCAATAGTTCAAGTCAGAGATGATGAAAACCTAGACCAAGTCAGTAGCAGCAGAGATGGAGGGGAGACAGCAGATTTAGGGAGAGCATATTGGGTGATGTAGGGAAGGAAGAAGAATGATGTCAAGATTCCCAGTTGGGGACCTGACAACATTGCAACATAAGACACACAAGAAGATCGGGTGGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCAGAGCCAGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCACAGGCAACATAGTGACACCTCATCGTTACAAAAAATAAAAAAAAAAATGAGGTGGGAGGATTGCTTGAGCTCGGGAGGTTGAGGCTACAATAAACTGTGATCATGCCACTGCACTCCTGCCTGGGTGACAGAGTGAGACCCTGCCTCAAAAAAAAAAGACACACAAGAGAAAAATATCAGCGTGTTGTTTGTTTTTGGTGGAGTTAATTGTGGGGTTCTAGGGAAAGGAATTTAGCTTGGGACATGGAAAGTTTGAGGTTCCTGTAGAGTGTCCCAGTGAAGATTTGTAATAGAGCATCGGATGCGCATATTAGATGGCACTTGGTGATATGATAAGAACTCAAAAAATATTTGAGGAATAAAGGAAAGAAGAGGCCAGACGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCATCATGCGCGTGTAGGGGGCAGTTAAAAAGCAGAAGTAAGAAAGATTGCCTAGGGAGGCAGGAAGGGTGAGGTGAGAGGAGAAGAGGCCCAGGACCAGATTCTAGTCACCAACAGCGTTTAAGGGGCAGGTAAGGAAAACAAAACCATCAGCAAAGACTGAGAATGAAAGCCCAGAGAGGAAGGAAAAGCCACACATACAATCAGTACAGCTCCATCTGAATAAAGGTAGCGCCCCCCCCCCCCCCAAATCATTAGAGAAATGCCTGAATCGTGTTTTCTGTTGATATTTCCTAAGCACCTAGATGTAGGGAATAGAAATAAATGGCTCCCTCTGTCTCATCCCCTTCCTGCCCTCTGAGAGGCAGCTGTGAATGCGTGCTTCCTTTCTGGGGGTGCAGATACTTTCTGGACCAACCCTCAGTACCGTCTGAAGCTCCTGGAGGAGGACGATGACCCTGATGACTCGGAGGTGATTTGCAGCTTCCTGGTGGCCCTGATGCAGAAGAACCGGCAGAAGGACCGGAAGCTAGGGGCCAGTCTCTTCACCATTGGCTTCGCCATCTACGAGGTGTGCAGTCCTGATTGGCTCCAGCCCAGGAAACATACTTTCCCAGGGAGGACGCTTCCAGGGGCTTCTAGAGGGGCCCTCTGGCTTCCTCAATACCCAGTGACCCACAGAGCTCCTGGTATCAGGACCACTTGTGTTTGTAACAAGCAAAAAATACCAGGGGGGGCATTAGAGAGGCAGTGGAGCGGGCCTGGCAGAACAGGTGCCTGGGGGTCAGGCTTCCGCATGCGGGCTGCAGTTGCTGGCATTGCCTTCCGCAGGCTCCTCATCCTCATTCACATCTGAAGCATCTTCCTTTCTGTTTCTTCTCAAGGTTCCCAAAGAGGTATAGCAGCAGCAGCGGCCAGCAGTTGTGTGCAGCACTACCCAGGGGGCCCCGAGTCTGTCTGTGGCTCGTCGAGAAGCTTCCTGGTGGGGTTTGTGGGCAGGACTGTGATAGGAGAGGGCCTTGCCTGTGTTATTTCCACTGCAGAGCAGGTGCCTCAGGGCATTGCATGACCCATGACTACCACCCCCAGGATGTGCACTTTCTCCCTCGCACCAGACACTGCACGTCACACACATGCCTTTGCACACTCACCCTCCTCCACGCTTACAGCCACACACACAGTCACACAGACGCGTTCTGAGGGTGGCTGCCCGCTTGGGATGGAGGAATCACTTCCCTCAGAACCCAGCCAAGTCCTCTAGGCCTCCTTGGGGGTCCTTCCAGCCTGAGGGGCTTCGGAGCTGAGGAGCAGCTGTTCTGGTAAGTGTCCCTGAGTGTGGGGATGACACATTTGCCATTCACTCTGAATCACAACAGAAAAGGAAGAGGAAGTGAGGTAGGGAGGCTATTTAAGCCTTGGGAGTCGGAAGTAGGGAGGTTGAAACTGTGACATGGGTGACCAGGGAGTTGGGAAGGGACCCTTGGAGGTGGCTGTGGCAGGACAGGATGTTCCTCCCGAGGGGCTCATGTGCCCTGGGCTCTCCCCATCTCTCAGATGCACGGGAACAAGCAGCACCTGCAGAAGGACTTCTTCCTGTACAACGCCTCCAAGGCCAGGAGCAAAACCTACATCAACATGCGGGAGGTGTCCCAGCGCTTCCGCCTGCCTCCCAGCGAGTACGTCATCGTGCCCTCCACCTACGAGCCCCACCAGGAGGGGGAATTCATCCTCCGGGTCTTCTCTGAAAAGAGGAACCTCTCTGAGTGAGTGCTGGCCCAGCTTTCCCACGTGTTTCTAAAAGCTCACATGGCCCACTCCAGAGGTTGAAGGCATGAGGCAGCTAGACACGTCTCCTCCAGGGTCCTTCTGCTGCTCCTGAGCCACTGGCCACATTACCCCCATTCATTCATTCATCCATTCTGTGATATTTATTGAGCACCTACTATGTTCCAGGCACTGTCCTAGGCACTAAGGATAGAGTAGTGAAGTAAACAGAAAGAAATCCCTGCCTTCATGGAGCTTAATATTCTAACATGAGACAATAATGGATAGGAAAAACATATGTAGCATGTTAGATTTGGAGAGGTGATATGGAGCAAAAATAAAGTAGGGAAGAGGGATAGGAGGTGTTGGGGATGCTTGAAATTTTAGGTTAGCATGGCCAGGAAAGCCACATCCTGTCCCTGGCCACCACAGATGAGCTCATAGCCCCTGCCACTCTGATCTCTGTCCTTGGAAGATGCACCAGGTCCATGGGTAGGTGGCTGGGTCATGCCTTTGGGGGGCTCTGAGCAATACTAACAAGAACCTGCGTGCCTGGGCTTGGCTGTCGGGGATGGTGCTGACATGGGGCTGGTTCCTGGGGTTGGGGTGTTCCAGGGGTTCTCTAGAGGCTGGTTCTGGCTTGGCTGCCAGGAAGCCGTGCACCAGAGCAAACCGTCCACGGGCCTCCTGCTTGCTTCTGGTGACACTGAGACCCCACATGTCTGTATTCCTCACAGGGAAGTTGAAAATACCATCTCCGTGGATCGGCCAGTGGTGAGTGGTTTAGATCTTCTGTGCG
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Task1_train_20581
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This variant impacts the gene CAPN3 (calpain 3) on Chromosome 15. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2A
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TTAATACTGTACTAAAAGTGAAAAACAGAATGGTTGTACGGGTACTCGAAATCCAGTTTCTACTGAATGTGCATCTCTTTCACATTGTAAAGTTAAAAAATTGTAGCCGAACCATCCTAAGTCAGGGACTGTGAGTACTGTGTCAGTAACAGTAAGGGCACTATTGGAGAACCAAGTTAGCAGCTGCTGCAATAGTTCAAGTCAGAGATGATGAAAACCTAGACCAAGTCAGTAGCAGCAGAGATGGAGGGGAGACAGCAGATTTAGGGAGAGCATATTGGGTGATGTAGGGAAGGAAGAAGAATGATGTCAAGATTCCCAGTTGGGGACCTGACAACATTGCAACATAAGACACACAAGAAGATCGGGTGGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCAGAGCCAGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCACAGGCAACATAGTGACACCTCATCGTTACAAAAAATAAAAAAAAAAATGAGGTGGGAGGATTGCTTGAGCTCGGGAGGTTGAGGCTACAATAAACTGTGATCATGCCACTGCACTCCTGCCTGGGTGACAGAGTGAGACCCTGCCTCAAAAAAAAAAGACACACAAGAGAAAAATATCAGCGTGTTGTTTGTTTTTGGTGGAGTTAATTGTGGGGTTCTAGGGAAAGGAATTTAGCTTGGGACATGGAAAGTTTGAGGTTCCTGTAGAGTGTCCCAGTGAAGATTTGTAATAGAGCATCGGATGCGCATATTAGATGGCACTTGGTGATATGATAAGAACTCAAAAAATATTTGAGGAATAAAGGAAAGAAGAGGCCAGACGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCATCATGCGCGTGTAGGGGGCAGTTAAAAAGCAGAAGTAAGAAAGATTGCCTAGGGAGGCAGGAAGGGTGAGGTGAGAGGAGAAGAGGCCCAGGACCAGATTCTAGTCACCAACAGCGTTTAAGGGGCAGGTAAGGAAAACAAAACCATCAGCAAAGACTGAGAATGAAAGCCCAGAGAGGAAGGAAAAGCCACACATACAATCAGTACAGCTCCATCTGAATAAAGGTAGCGCCCCCCCCCCCCCCAAATCATTAGAGAAATGCCTGAATCGTGTTTTCTGTTGATATTTCCTAAGCACCTAGATGTAGGGAATAGAAATAAATGGCTCCCTCTGTCTCATCCCCTTCCTGCCCTCTGAGAGGCAGCTGTGAATGCGTGCTTCCTTTCTGGGGGTGCAGATACTTTCTGGACCAACCCTCAGTACCGTCTGAAGCTCCTGGAGGAGGACGATGACCCTGATGACTCGGAGGTGATTTGCAGCTTCCTGGTGGCCCTGATGCAGAAGAACCGGCGGAAGGACCGGAAGCTAGGGGCCAGTCTCTTCACCATTGGCTTCGCCATCTACGAGGTGTGCAGTCCTGATTGGCTCCAGCCCAGGAAACATACTTTCCCAGGGAGGACGCTTCCAGGGGCTTCTAGAGGGGCCCTCTGGCTTCCTCAATACCCAGTGACCCACAGAGCTCCTGGTATCAGGACCACTTGTGTTTGTAACAAGCAAAAAATACCAGGGGGGGCATTAGAGAGGCAGTGGAGCGGGCCTGGCAGAACAGGTGCCTGGGGGTCAGGCTTCCGCATGCGGGCTGCAGTTGCTGGCATTGCCTTCCGCAGGCTCCTCATCCTCATTCACATCTGAAGCATCTTCCTTTCTGTTTCTTCTCAAGGTTCCCAAAGAGGTATAGCAGCAGCAGCGGCCAGCAGTTGTGTGCAGCACTACCCAGGGGGCCCCGAGTCTGTCTGTGGCTCGTCGAGAAGCTTCCTGGTGGGGTTTGTGGGCAGGACTGTGATAGGAGAGGGCCTTGCCTGTGTTATTTCCACTGCAGAGCAGGTGCCTCAGGGCATTGCATGACCCATGACTACCACCCCCAGGATGTGCACTTTCTCCCTCGCACCAGACACTGCACGTCACACACATGCCTTTGCACACTCACCCTCCTCCACGCTTACAGCCACACACACAGTCACACAGACGCGTTCTGAGGGTGGCTGCCCGCTTGGGATGGAGGAATCACTTCCCTCAGAACCCAGCCAAGTCCTCTAGGCCTCCTTGGGGGTCCTTCCAGCCTGAGGGGCTTCGGAGCTGAGGAGCAGCTGTTCTGGTAAGTGTCCCTGAGTGTGGGGATGACACATTTGCCATTCACTCTGAATCACAACAGAAAAGGAAGAGGAAGTGAGGTAGGGAGGCTATTTAAGCCTTGGGAGTCGGAAGTAGGGAGGTTGAAACTGTGACATGGGTGACCAGGGAGTTGGGAAGGGACCCTTGGAGGTGGCTGTGGCAGGACAGGATGTTCCTCCCGAGGGGCTCATGTGCCCTGGGCTCTCCCCATCTCTCAGATGCACGGGAACAAGCAGCACCTGCAGAAGGACTTCTTCCTGTACAACGCCTCCAAGGCCAGGAGCAAAACCTACATCAACATGCGGGAGGTGTCCCAGCGCTTCCGCCTGCCTCCCAGCGAGTACGTCATCGTGCCCTCCACCTACGAGCCCCACCAGGAGGGGGAATTCATCCTCCGGGTCTTCTCTGAAAAGAGGAACCTCTCTGAGTGAGTGCTGGCCCAGCTTTCCCACGTGTTTCTAAAAGCTCACATGGCCCACTCCAGAGGTTGAAGGCATGAGGCAGCTAGACACGTCTCCTCCAGGGTCCTTCTGCTGCTCCTGAGCCACTGGCCACATTACCCCCATTCATTCATTCATCCATTCTGTGATATTTATTGAGCACCTACTATGTTCCAGGCACTGTCCTAGGCACTAAGGATAGAGTAGTGAAGTAAACAGAAAGAAATCCCTGCCTTCATGGAGCTTAATATTCTAACATGAGACAATAATGGATAGGAAAAACATATGTAGCATGTTAGATTTGGAGAGGTGATATGGAGCAAAAATAAAGTAGGGAAGAGGGATAGGAGGTGTTGGGGATGCTTGAAATTTTAGGTTAGCATGGCCAGGAAAGCCACATCCTGTCCCTGGCCACCACAGATGAGCTCATAGCCCCTGCCACTCTGATCTCTGTCCTTGGAAGATGCACCAGGTCCATGGGTAGGTGGCTGGGTCATGCCTTTGGGGGGCTCTGAGCAATACTAACAAGAACCTGCGTGCCTGGGCTTGGCTGTCGGGGATGGTGCTGACATGGGGCTGGTTCCTGGGGTTGGGGTGTTCCAGGGGTTCTCTAGAGGCTGGTTCTGGCTTGGCTGCCAGGAAGCCGTGCACCAGAGCAAACCGTCCACGGGCCTCCTGCTTGCTTCTGGTGACACTGAGACCCCACATGTCTGTATTCCTCACAGGGAAGTTGAAAATACCATCTCCGTGGATCGGCCAGTGGTGAGTGGTTTAGATCTTCTGTGCGAAAAGTCCAGAGGGTCCCCTTCCCTGACCATGCAGGGGACAGATGGTGCAGGGGAGAATGGGCACTGGCAGAGGGAATGGGAGTCTGGGCTGTGCTGAGCAGTCCCTCCTTGGCACTGCAAATCCTACTTTGGCATGGCCAGAAGTAATCGGCCTTAAGCACCGGGGGCCATTGAGGCAGTTCAGGGGCTGGGAAATATGGAAGAGGGTCCTGGAAAGGAGAAGCAATTTGAACAATCGGAGGGAACAAGGCCACAGGAAGGGATGACAAGAGCCGCAGCGAACACTGGATTCTGAGACTGGATAACATTGGATTTCACACATAGAGAAAAGAAAGTAAGCTGGTGCCGGACCTGGTGTTGACACTTGGATCCTCCACTTA
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TTAATACTGTACTAAAAGTGAAAAACAGAATGGTTGTACGGGTACTCGAAATCCAGTTTCTACTGAATGTGCATCTCTTTCACATTGTAAAGTTAAAAAATTGTAGCCGAACCATCCTAAGTCAGGGACTGTGAGTACTGTGTCAGTAACAGTAAGGGCACTATTGGAGAACCAAGTTAGCAGCTGCTGCAATAGTTCAAGTCAGAGATGATGAAAACCTAGACCAAGTCAGTAGCAGCAGAGATGGAGGGGAGACAGCAGATTTAGGGAGAGCATATTGGGTGATGTAGGGAAGGAAGAAGAATGATGTCAAGATTCCCAGTTGGGGACCTGACAACATTGCAACATAAGACACACAAGAAGATCGGGTGGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCAGAGCCAGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCACAGGCAACATAGTGACACCTCATCGTTACAAAAAATAAAAAAAAAAATGAGGTGGGAGGATTGCTTGAGCTCGGGAGGTTGAGGCTACAATAAACTGTGATCATGCCACTGCACTCCTGCCTGGGTGACAGAGTGAGACCCTGCCTCAAAAAAAAAAGACACACAAGAGAAAAATATCAGCGTGTTGTTTGTTTTTGGTGGAGTTAATTGTGGGGTTCTAGGGAAAGGAATTTAGCTTGGGACATGGAAAGTTTGAGGTTCCTGTAGAGTGTCCCAGTGAAGATTTGTAATAGAGCATCGGATGCGCATATTAGATGGCACTTGGTGATATGATAAGAACTCAAAAAATATTTGAGGAATAAAGGAAAGAAGAGGCCAGACGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCATCATGCGCGTGTAGGGGGCAGTTAAAAAGCAGAAGTAAGAAAGATTGCCTAGGGAGGCAGGAAGGGTGAGGTGAGAGGAGAAGAGGCCCAGGACCAGATTCTAGTCACCAACAGCGTTTAAGGGGCAGGTAAGGAAAACAAAACCATCAGCAAAGACTGAGAATGAAAGCCCAGAGAGGAAGGAAAAGCCACACATACAATCAGTACAGCTCCATCTGAATAAAGGTAGCGCCCCCCCCCCCCCCAAATCATTAGAGAAATGCCTGAATCGTGTTTTCTGTTGATATTTCCTAAGCACCTAGATGTAGGGAATAGAAATAAATGGCTCCCTCTGTCTCATCCCCTTCCTGCCCTCTGAGAGGCAGCTGTGAATGCGTGCTTCCTTTCTGGGGGTGCAGATACTTTCTGGACCAACCCTCAGTACCGTCTGAAGCTCCTGGAGGAGGACGATGACCCTGATGACTCGGAGGTGATTTGCAGCTTCCTGGTGGCCCTGATGCAGAAGAACCGGCGGAAGGACCGGAAGCTAGGGGCCAGTCTCTTCACCATTGGCTTCGCCATCTACGAGGTGTGCAGTCCTGATTGGCTCCAGCCCAGGAAACATACTTTCCCAGGGAGGACGCTTCCAGGGGCTTCTAGAGGGGCCCTCTGGCTTCCTCAATACCCAGTGACCCACAGAGCTCCTGGTATCAGGACCACTTGTGTTTGTAACAAGCAAAAAATACCAGGGGGGGCATTAGAGAGGCAGTGGAGCGGGCCTGGCAGAACAGGTGCCTGGGGGTCAGGCTTCCGCATGCGGGCTGCAGTTGCTGGCATTGCCTTCCGCAGGCTCCTCATCCTCATTCACATCTGAAGCATCTTCCTTTCTGTTTCTTCTCAAGGTTCCCAAAGAGTTATAGCAGCAGCAGCGGCCAGCAGTTGTGTGCAGCACTACCCAGGGGGCCCCGAGTCTGTCTGTGGCTCGTCGAGAAGCTTCCTGGTGGGGTTTGTGGGCAGGACTGTGATAGGAGAGGGCCTTGCCTGTGTTATTTCCACTGCAGAGCAGGTGCCTCAGGGCATTGCATGACCCATGACTACCACCCCCAGGATGTGCACTTTCTCCCTCGCACCAGACACTGCACGTCACACACATGCCTTTGCACACTCACCCTCCTCCACGCTTACAGCCACACACACAGTCACACAGACGCGTTCTGAGGGTGGCTGCCCGCTTGGGATGGAGGAATCACTTCCCTCAGAACCCAGCCAAGTCCTCTAGGCCTCCTTGGGGGTCCTTCCAGCCTGAGGGGCTTCGGAGCTGAGGAGCAGCTGTTCTGGTAAGTGTCCCTGAGTGTGGGGATGACACATTTGCCATTCACTCTGAATCACAACAGAAAAGGAAGAGGAAGTGAGGTAGGGAGGCTATTTAAGCCTTGGGAGTCGGAAGTAGGGAGGTTGAAACTGTGACATGGGTGACCAGGGAGTTGGGAAGGGACCCTTGGAGGTGGCTGTGGCAGGACAGGATGTTCCTCCCGAGGGGCTCATGTGCCCTGGGCTCTCCCCATCTCTCAGATGCACGGGAACAAGCAGCACCTGCAGAAGGACTTCTTCCTGTACAACGCCTCCAAGGCCAGGAGCAAAACCTACATCAACATGCGGGAGGTGTCCCAGCGCTTCCGCCTGCCTCCCAGCGAGTACGTCATCGTGCCCTCCACCTACGAGCCCCACCAGGAGGGGGAATTCATCCTCCGGGTCTTCTCTGAAAAGAGGAACCTCTCTGAGTGAGTGCTGGCCCAGCTTTCCCACGTGTTTCTAAAAGCTCACATGGCCCACTCCAGAGGTTGAAGGCATGAGGCAGCTAGACACGTCTCCTCCAGGGTCCTTCTGCTGCTCCTGAGCCACTGGCCACATTACCCCCATTCATTCATTCATCCATTCTGTGATATTTATTGAGCACCTACTATGTTCCAGGCACTGTCCTAGGCACTAAGGATAGAGTAGTGAAGTAAACAGAAAGAAATCCCTGCCTTCATGGAGCTTAATATTCTAACATGAGACAATAATGGATAGGAAAAACATATGTAGCATGTTAGATTTGGAGAGGTGATATGGAGCAAAAATAAAGTAGGGAAGAGGGATAGGAGGTGTTGGGGATGCTTGAAATTTTAGGTTAGCATGGCCAGGAAAGCCACATCCTGTCCCTGGCCACCACAGATGAGCTCATAGCCCCTGCCACTCTGATCTCTGTCCTTGGAAGATGCACCAGGTCCATGGGTAGGTGGCTGGGTCATGCCTTTGGGGGGCTCTGAGCAATACTAACAAGAACCTGCGTGCCTGGGCTTGGCTGTCGGGGATGGTGCTGACATGGGGCTGGTTCCTGGGGTTGGGGTGTTCCAGGGGTTCTCTAGAGGCTGGTTCTGGCTTGGCTGCCAGGAAGCCGTGCACCAGAGCAAACCGTCCACGGGCCTCCTGCTTGCTTCTGGTGACACTGAGACCCCACATGTCTGTATTCCTCACAGGGAAGTTGAAAATACCATCTCCGTGGATCGGCCAGTGGTGAGTGGTTTAGATCTTCTGTGCGAAAAGTCCAGAGGGTCCCCTTCCCTGACCATGCAGGGGACAGATGGTGCAGGGGAGAATGGGCACTGGCAGAGGGAATGGGAGTCTGGGCTGTGCTGAGCAGTCCCTCCTTGGCACTGCAAATCCTACTTTGGCATGGCCAGAAGTAATCGGCCTTAAGCACCGGGGGCCATTGAGGCAGTTCAGGGGCTGGGAAATATGGAAGAGGGTCCTGGAAAGGAGAAGCAATTTGAACAATCGGAGGGAACAAGGCCACAGGAAGGGATGACAAGAGCCGCAGCGAACACTGGATTCTGAGACTGGATAACATTGGATTTCACACATAGAGAAAAGAAAGTAAGCTGGTGCCGGACCTGGTGTTGACACTTGGATCCTCCACTTA
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Task1_train_20582
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Gene CAPN3 (calpain 3) on Chromosome 15 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2A
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AAGAGGCCAGACGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCATCATGCGCGTGTAGGGGGCAGTTAAAAAGCAGAAGTAAGAAAGATTGCCTAGGGAGGCAGGAAGGGTGAGGTGAGAGGAGAAGAGGCCCAGGACCAGATTCTAGTCACCAACAGCGTTTAAGGGGCAGGTAAGGAAAACAAAACCATCAGCAAAGACTGAGAATGAAAGCCCAGAGAGGAAGGAAAAGCCACACATACAATCAGTACAGCTCCATCTGAATAAAGGTAGCGCCCCCCCCCCCCCCAAATCATTAGAGAAATGCCTGAATCGTGTTTTCTGTTGATATTTCCTAAGCACCTAGATGTAGGGAATAGAAATAAATGGCTCCCTCTGTCTCATCCCCTTCCTGCCCTCTGAGAGGCAGCTGTGAATGCGTGCTTCCTTTCTGGGGGTGCAGATACTTTCTGGACCAACCCTCAGTACCGTCTGAAGCTCCTGGAGGAGGACGATGACCCTGATGACTCGGAGGTGATTTGCAGCTTCCTGGTGGCCCTGATGCAGAAGAACCGGCGGAAGGACCGGAAGCTAGGGGCCAGTCTCTTCACCATTGGCTTCGCCATCTACGAGGTGTGCAGTCCTGATTGGCTCCAGCCCAGGAAACATACTTTCCCAGGGAGGACGCTTCCAGGGGCTTCTAGAGGGGCCCTCTGGCTTCCTCAATACCCAGTGACCCACAGAGCTCCTGGTATCAGGACCACTTGTGTTTGTAACAAGCAAAAAATACCAGGGGGGGCATTAGAGAGGCAGTGGAGCGGGCCTGGCAGAACAGGTGCCTGGGGGTCAGGCTTCCGCATGCGGGCTGCAGTTGCTGGCATTGCCTTCCGCAGGCTCCTCATCCTCATTCACATCTGAAGCATCTTCCTTTCTGTTTCTTCTCAAGGTTCCCAAAGAGGTATAGCAGCAGCAGCGGCCAGCAGTTGTGTGCAGCACTACCCAGGGGGCCCCGAGTCTGTCTGTGGCTCGTCGAGAAGCTTCCTGGTGGGGTTTGTGGGCAGGACTGTGATAGGAGAGGGCCTTGCCTGTGTTATTTCCACTGCAGAGCAGGTGCCTCAGGGCATTGCATGACCCATGACTACCACCCCCAGGATGTGCACTTTCTCCCTCGCACCAGACACTGCACGTCACACACATGCCTTTGCACACTCACCCTCCTCCACGCTTACAGCCACACACACAGTCACACAGACGCGTTCTGAGGGTGGCTGCCCGCTTGGGATGGAGGAATCACTTCCCTCAGAACCCAGCCAAGTCCTCTAGGCCTCCTTGGGGGTCCTTCCAGCCTGAGGGGCTTCGGAGCTGAGGAGCAGCTGTTCTGGTAAGTGTCCCTGAGTGTGGGGATGACACATTTGCCATTCACTCTGAATCACAACAGAAAAGGAAGAGGAAGTGAGGTAGGGAGGCTATTTAAGCCTTGGGAGTCGGAAGTAGGGAGGTTGAAACTGTGACATGGGTGACCAGGGAGTTGGGAAGGGACCCTTGGAGGTGGCTGTGGCAGGACAGGATGTTCCTCCCGAGGGGCTCATGTGCCCTGGGCTCTCCCCATCTCTCAGATGCACGGGAACAAGCAGCACCTGCAGAAGGACTTCTTCCTGTACAACGCCTCCAAGGCCAGGAGCAAAACCTACATCAACATGCGGGAGGTGTCCCAGCGCTTCCGCCTGCCTCCCAGCGAGTACGTCATCGTGCCCTCCACCTACGAGCCCCACCAGGAGGGGGAATTCATCCTCCGGGTCTTCTCTGAAAAGAGGAACCTCTCTGAGTGAGTGCTGGCCCAGCTTTCCCACGTGTTTCTAAAAGCTCACATGGCCCACTCCAGAGGTTGAAGGCATGAGGCAGCTAGACACGTCTCCTCCAGGGTCCTTCTGCTGCTCCTGAGCCACTGGCCACATTACCCCCATTCATTCATTCATCCATTCTGTGATATTTATTGAGCACCTACTATGTTCCAGGCACTGTCCTAGGCACTAAGGATAGAGTAGTGAAGTAAACAGAAAGAAATCCCTGCCTTCATGGAGCTTAATATTCTAACATGAGACAATAATGGATAGGAAAAACATATGTAGCATGTTAGATTTGGAGAGGTGATATGGAGCAAAAATAAAGTAGGGAAGAGGGATAGGAGGTGTTGGGGATGCTTGAAATTTTAGGTTAGCATGGCCAGGAAAGCCACATCCTGTCCCTGGCCACCACAGATGAGCTCATAGCCCCTGCCACTCTGATCTCTGTCCTTGGAAGATGCACCAGGTCCATGGGTAGGTGGCTGGGTCATGCCTTTGGGGGGCTCTGAGCAATACTAACAAGAACCTGCGTGCCTGGGCTTGGCTGTCGGGGATGGTGCTGACATGGGGCTGGTTCCTGGGGTTGGGGTGTTCCAGGGGTTCTCTAGAGGCTGGTTCTGGCTTGGCTGCCAGGAAGCCGTGCACCAGAGCAAACCGTCCACGGGCCTCCTGCTTGCTTCTGGTGACACTGAGACCCCACATGTCTGTATTCCTCACAGGGAAGTTGAAAATACCATCTCCGTGGATCGGCCAGTGGTGAGTGGTTTAGATCTTCTGTGCGAAAAGTCCAGAGGGTCCCCTTCCCTGACCATGCAGGGGACAGATGGTGCAGGGGAGAATGGGCACTGGCAGAGGGAATGGGAGTCTGGGCTGTGCTGAGCAGTCCCTCCTTGGCACTGCAAATCCTACTTTGGCATGGCCAGAAGTAATCGGCCTTAAGCACCGGGGGCCATTGAGGCAGTTCAGGGGCTGGGAAATATGGAAGAGGGTCCTGGAAAGGAGAAGCAATTTGAACAATCGGAGGGAACAAGGCCACAGGAAGGGATGACAAGAGCCGCAGCGAACACTGGATTCTGAGACTGGATAACATTGGATTTCACACATAGAGAAAAGAAAGTAAGCTGGTGCCGGACCTGGTGTTGACACTTGGATCCTCCACTTACCAGCGGGGTGACCTGGACAATTTCTGTAATCCCTCTCACTCAGTTTCCTACTCAGTAAAACGGGGATGATAATGTGCCTTGCAAGGCTTTTGTGAGGCTTCATCAATGAGGTGATGTATGTGAAGTGTCTGGCACAGCATGGGCACTCAAACAGAGGTGCTTTTTCACACTTTACACCTTACAAGGTACTTTTCACATGTGTCATCGCGATACTTGCAAGGTTGCTGAGAGGTAGATGGGGTTATAATCCCTGGTGTTCAAGAAAGGAAGCAGAGGCTCAATGGGGTTGAATGACTTCTCTGAGTTCACAGAGCTCAGTAAGTGGCAGGGTTGGAACTCACATTCAGACTCTCTGACTCCAGACTTAGGTTTTTCCGCACCTCCACGCTGAGGCCAGCCCCAGGCAGTGAGAAGCCCAAAGTCCGAAGCACAGAGTGCTGTGTGTTGGGCTCTGTGTGTTGAGGAGTCTTGTGACTGCCTTGGGGCTTTGGGCTGTAGTCAGCTGACAGTCCTTTGTGCTCTGTGGGGATGACGTAGGCCAATGGGAGGACAAATGCCCCTCTGAACTGTCTTCTGGGCAGTGACAGTCATGGTCATAATCCTGACCCTGAGCCAGTGCCAGGTCTCCAAGTGCCTTCTGAATGACCACAGGCGATTGGTTTTAGTGGTAGGTGTGTGGGGATCTGTTCTGGTCATCTGGATGCTGGTCATCGGTGTGCAGTATTGATCAGGACCTGCAAACCCAAAAGCTTATGGGAGCTGGCACGTCACGTGAGTAGAGCAGGCAGGTGCAGGGGTTTTGATGTCCCTGCACTGACA
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AAGAGGCCAGACGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCATCATGCGCGTGTAGGGGGCAGTTAAAAAGCAGAAGTAAGAAAGATTGCCTAGGGAGGCAGGAAGGGTGAGGTGAGAGGAGAAGAGGCCCAGGACCAGATTCTAGTCACCAACAGCGTTTAAGGGGCAGGTAAGGAAAACAAAACCATCAGCAAAGACTGAGAATGAAAGCCCAGAGAGGAAGGAAAAGCCACACATACAATCAGTACAGCTCCATCTGAATAAAGGTAGCGCCCCCCCCCCCCCCAAATCATTAGAGAAATGCCTGAATCGTGTTTTCTGTTGATATTTCCTAAGCACCTAGATGTAGGGAATAGAAATAAATGGCTCCCTCTGTCTCATCCCCTTCCTGCCCTCTGAGAGGCAGCTGTGAATGCGTGCTTCCTTTCTGGGGGTGCAGATACTTTCTGGACCAACCCTCAGTACCGTCTGAAGCTCCTGGAGGAGGACGATGACCCTGATGACTCGGAGGTGATTTGCAGCTTCCTGGTGGCCCTGATGCAGAAGAACCGGCGGAAGGACCGGAAGCTAGGGGCCAGTCTCTTCACCATTGGCTTCGCCATCTACGAGGTGTGCAGTCCTGATTGGCTCCAGCCCAGGAAACATACTTTCCCAGGGAGGACGCTTCCAGGGGCTTCTAGAGGGGCCCTCTGGCTTCCTCAATACCCAGTGACCCACAGAGCTCCTGGTATCAGGACCACTTGTGTTTGTAACAAGCAAAAAATACCAGGGGGGGCATTAGAGAGGCAGTGGAGCGGGCCTGGCAGAACAGGTGCCTGGGGGTCAGGCTTCCGCATGCGGGCTGCAGTTGCTGGCATTGCCTTCCGCAGGCTCCTCATCCTCATTCACATCTGAAGCATCTTCCTTTCTGTTTCTTCTCAAGGTTCCCAAAGAGGTATAGCAGCAGCAGCGGCCAGCAGTTGTGTGCAGCACTACCCAGGGGGCCCCGAGTCTGTCTGTGGCTCGTCGAGAAGCTTCCTGGTGGGGTTTGTGGGCAGGACTGTGATAGGAGAGGGCCTTGCCTGTGTTATTTCCACTGCAGAGCAGGTGCCTCAGGGCATTGCATGACCCATGACTACCACCCCCAGGATGTGCACTTTCTCCCTCGCACCAGACACTGCACGTCACACACATGCCTTTGCACACTCACCCTCCTCCACGCTTACAGCCACACACACAGTCACACAGACGCGTTCTGAGGGTGGCTGCCCGCTTGGGATGGAGGAATCACTTCCCTCAGAACCCAGCCAAGTCCTCTAGGCCTCCTTGGGGGTCCTTCCAGCCTGAGGGGCTTCGGAGCTGAGGAGCAGCTGTTCTGGTAAGTGTCCCTGAGTGTGGGGATGACACATTTGCCATTCACTCTGAATCACAACAGAAAAGGAAGAGGAAGTGAGGTAGGGAGGCTATTTAAGCCTTGGGAGTCGGAAGTAGGGAGGTTGAAACTGTGACATGGGTGACCAGGGAGTTGGGAAGGGACCCTTGGAGGTGGCTGTGGCAGGACAGGATGTTCCTCCCGAGGGGCTCATGTGCCCTGGGCTCTCCCCATCTCTCAGATGCACGGGAACAAGCAGCACCTGCAGAAGGACTTCTTCCTGTACAACGCCTCCAAGGCCAGGAGCAAAACCTACATCAACATGCGGGAGGTGTCCCAGCGCTTCCGCCTGCCTCCCAGCGAGTACGTCATCGTGCCCTCCACCTACGAGCCCCACCAGGAGTGGGAATTCATCCTCCGGGTCTTCTCTGAAAAGAGGAACCTCTCTGAGTGAGTGCTGGCCCAGCTTTCCCACGTGTTTCTAAAAGCTCACATGGCCCACTCCAGAGGTTGAAGGCATGAGGCAGCTAGACACGTCTCCTCCAGGGTCCTTCTGCTGCTCCTGAGCCACTGGCCACATTACCCCCATTCATTCATTCATCCATTCTGTGATATTTATTGAGCACCTACTATGTTCCAGGCACTGTCCTAGGCACTAAGGATAGAGTAGTGAAGTAAACAGAAAGAAATCCCTGCCTTCATGGAGCTTAATATTCTAACATGAGACAATAATGGATAGGAAAAACATATGTAGCATGTTAGATTTGGAGAGGTGATATGGAGCAAAAATAAAGTAGGGAAGAGGGATAGGAGGTGTTGGGGATGCTTGAAATTTTAGGTTAGCATGGCCAGGAAAGCCACATCCTGTCCCTGGCCACCACAGATGAGCTCATAGCCCCTGCCACTCTGATCTCTGTCCTTGGAAGATGCACCAGGTCCATGGGTAGGTGGCTGGGTCATGCCTTTGGGGGGCTCTGAGCAATACTAACAAGAACCTGCGTGCCTGGGCTTGGCTGTCGGGGATGGTGCTGACATGGGGCTGGTTCCTGGGGTTGGGGTGTTCCAGGGGTTCTCTAGAGGCTGGTTCTGGCTTGGCTGCCAGGAAGCCGTGCACCAGAGCAAACCGTCCACGGGCCTCCTGCTTGCTTCTGGTGACACTGAGACCCCACATGTCTGTATTCCTCACAGGGAAGTTGAAAATACCATCTCCGTGGATCGGCCAGTGGTGAGTGGTTTAGATCTTCTGTGCGAAAAGTCCAGAGGGTCCCCTTCCCTGACCATGCAGGGGACAGATGGTGCAGGGGAGAATGGGCACTGGCAGAGGGAATGGGAGTCTGGGCTGTGCTGAGCAGTCCCTCCTTGGCACTGCAAATCCTACTTTGGCATGGCCAGAAGTAATCGGCCTTAAGCACCGGGGGCCATTGAGGCAGTTCAGGGGCTGGGAAATATGGAAGAGGGTCCTGGAAAGGAGAAGCAATTTGAACAATCGGAGGGAACAAGGCCACAGGAAGGGATGACAAGAGCCGCAGCGAACACTGGATTCTGAGACTGGATAACATTGGATTTCACACATAGAGAAAAGAAAGTAAGCTGGTGCCGGACCTGGTGTTGACACTTGGATCCTCCACTTACCAGCGGGGTGACCTGGACAATTTCTGTAATCCCTCTCACTCAGTTTCCTACTCAGTAAAACGGGGATGATAATGTGCCTTGCAAGGCTTTTGTGAGGCTTCATCAATGAGGTGATGTATGTGAAGTGTCTGGCACAGCATGGGCACTCAAACAGAGGTGCTTTTTCACACTTTACACCTTACAAGGTACTTTTCACATGTGTCATCGCGATACTTGCAAGGTTGCTGAGAGGTAGATGGGGTTATAATCCCTGGTGTTCAAGAAAGGAAGCAGAGGCTCAATGGGGTTGAATGACTTCTCTGAGTTCACAGAGCTCAGTAAGTGGCAGGGTTGGAACTCACATTCAGACTCTCTGACTCCAGACTTAGGTTTTTCCGCACCTCCACGCTGAGGCCAGCCCCAGGCAGTGAGAAGCCCAAAGTCCGAAGCACAGAGTGCTGTGTGTTGGGCTCTGTGTGTTGAGGAGTCTTGTGACTGCCTTGGGGCTTTGGGCTGTAGTCAGCTGACAGTCCTTTGTGCTCTGTGGGGATGACGTAGGCCAATGGGAGGACAAATGCCCCTCTGAACTGTCTTCTGGGCAGTGACAGTCATGGTCATAATCCTGACCCTGAGCCAGTGCCAGGTCTCCAAGTGCCTTCTGAATGACCACAGGCGATTGGTTTTAGTGGTAGGTGTGTGGGGATCTGTTCTGGTCATCTGGATGCTGGTCATCGGTGTGCAGTATTGATCAGGACCTGCAAACCCAAAAGCTTATGGGAGCTGGCACGTCACGTGAGTAGAGCAGGCAGGTGCAGGGGTTTTGATGTCCCTGCACTGACA
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Task1_train_20583
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The following genetic variant occurs in CAPN3 (calpain 3) on Chromosome 15. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; CAPN3-related disorder
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AAGAGGCCAGACGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCATCATGCGCGTGTAGGGGGCAGTTAAAAAGCAGAAGTAAGAAAGATTGCCTAGGGAGGCAGGAAGGGTGAGGTGAGAGGAGAAGAGGCCCAGGACCAGATTCTAGTCACCAACAGCGTTTAAGGGGCAGGTAAGGAAAACAAAACCATCAGCAAAGACTGAGAATGAAAGCCCAGAGAGGAAGGAAAAGCCACACATACAATCAGTACAGCTCCATCTGAATAAAGGTAGCGCCCCCCCCCCCCCCAAATCATTAGAGAAATGCCTGAATCGTGTTTTCTGTTGATATTTCCTAAGCACCTAGATGTAGGGAATAGAAATAAATGGCTCCCTCTGTCTCATCCCCTTCCTGCCCTCTGAGAGGCAGCTGTGAATGCGTGCTTCCTTTCTGGGGGTGCAGATACTTTCTGGACCAACCCTCAGTACCGTCTGAAGCTCCTGGAGGAGGACGATGACCCTGATGACTCGGAGGTGATTTGCAGCTTCCTGGTGGCCCTGATGCAGAAGAACCGGCGGAAGGACCGGAAGCTAGGGGCCAGTCTCTTCACCATTGGCTTCGCCATCTACGAGGTGTGCAGTCCTGATTGGCTCCAGCCCAGGAAACATACTTTCCCAGGGAGGACGCTTCCAGGGGCTTCTAGAGGGGCCCTCTGGCTTCCTCAATACCCAGTGACCCACAGAGCTCCTGGTATCAGGACCACTTGTGTTTGTAACAAGCAAAAAATACCAGGGGGGGCATTAGAGAGGCAGTGGAGCGGGCCTGGCAGAACAGGTGCCTGGGGGTCAGGCTTCCGCATGCGGGCTGCAGTTGCTGGCATTGCCTTCCGCAGGCTCCTCATCCTCATTCACATCTGAAGCATCTTCCTTTCTGTTTCTTCTCAAGGTTCCCAAAGAGGTATAGCAGCAGCAGCGGCCAGCAGTTGTGTGCAGCACTACCCAGGGGGCCCCGAGTCTGTCTGTGGCTCGTCGAGAAGCTTCCTGGTGGGGTTTGTGGGCAGGACTGTGATAGGAGAGGGCCTTGCCTGTGTTATTTCCACTGCAGAGCAGGTGCCTCAGGGCATTGCATGACCCATGACTACCACCCCCAGGATGTGCACTTTCTCCCTCGCACCAGACACTGCACGTCACACACATGCCTTTGCACACTCACCCTCCTCCACGCTTACAGCCACACACACAGTCACACAGACGCGTTCTGAGGGTGGCTGCCCGCTTGGGATGGAGGAATCACTTCCCTCAGAACCCAGCCAAGTCCTCTAGGCCTCCTTGGGGGTCCTTCCAGCCTGAGGGGCTTCGGAGCTGAGGAGCAGCTGTTCTGGTAAGTGTCCCTGAGTGTGGGGATGACACATTTGCCATTCACTCTGAATCACAACAGAAAAGGAAGAGGAAGTGAGGTAGGGAGGCTATTTAAGCCTTGGGAGTCGGAAGTAGGGAGGTTGAAACTGTGACATGGGTGACCAGGGAGTTGGGAAGGGACCCTTGGAGGTGGCTGTGGCAGGACAGGATGTTCCTCCCGAGGGGCTCATGTGCCCTGGGCTCTCCCCATCTCTCAGATGCACGGGAACAAGCAGCACCTGCAGAAGGACTTCTTCCTGTACAACGCCTCCAAGGCCAGGAGCAAAACCTACATCAACATGCGGGAGGTGTCCCAGCGCTTCCGCCTGCCTCCCAGCGAGTACGTCATCGTGCCCTCCACCTACGAGCCCCACCAGGAGGGGGAATTCATCCTCCGGGTCTTCTCTGAAAAGAGGAACCTCTCTGAGTGAGTGCTGGCCCAGCTTTCCCACGTGTTTCTAAAAGCTCACATGGCCCACTCCAGAGGTTGAAGGCATGAGGCAGCTAGACACGTCTCCTCCAGGGTCCTTCTGCTGCTCCTGAGCCACTGGCCACATTACCCCCATTCATTCATTCATCCATTCTGTGATATTTATTGAGCACCTACTATGTTCCAGGCACTGTCCTAGGCACTAAGGATAGAGTAGTGAAGTAAACAGAAAGAAATCCCTGCCTTCATGGAGCTTAATATTCTAACATGAGACAATAATGGATAGGAAAAACATATGTAGCATGTTAGATTTGGAGAGGTGATATGGAGCAAAAATAAAGTAGGGAAGAGGGATAGGAGGTGTTGGGGATGCTTGAAATTTTAGGTTAGCATGGCCAGGAAAGCCACATCCTGTCCCTGGCCACCACAGATGAGCTCATAGCCCCTGCCACTCTGATCTCTGTCCTTGGAAGATGCACCAGGTCCATGGGTAGGTGGCTGGGTCATGCCTTTGGGGGGCTCTGAGCAATACTAACAAGAACCTGCGTGCCTGGGCTTGGCTGTCGGGGATGGTGCTGACATGGGGCTGGTTCCTGGGGTTGGGGTGTTCCAGGGGTTCTCTAGAGGCTGGTTCTGGCTTGGCTGCCAGGAAGCCGTGCACCAGAGCAAACCGTCCACGGGCCTCCTGCTTGCTTCTGGTGACACTGAGACCCCACATGTCTGTATTCCTCACAGGGAAGTTGAAAATACCATCTCCGTGGATCGGCCAGTGGTGAGTGGTTTAGATCTTCTGTGCGAAAAGTCCAGAGGGTCCCCTTCCCTGACCATGCAGGGGACAGATGGTGCAGGGGAGAATGGGCACTGGCAGAGGGAATGGGAGTCTGGGCTGTGCTGAGCAGTCCCTCCTTGGCACTGCAAATCCTACTTTGGCATGGCCAGAAGTAATCGGCCTTAAGCACCGGGGGCCATTGAGGCAGTTCAGGGGCTGGGAAATATGGAAGAGGGTCCTGGAAAGGAGAAGCAATTTGAACAATCGGAGGGAACAAGGCCACAGGAAGGGATGACAAGAGCCGCAGCGAACACTGGATTCTGAGACTGGATAACATTGGATTTCACACATAGAGAAAAGAAAGTAAGCTGGTGCCGGACCTGGTGTTGACACTTGGATCCTCCACTTACCAGCGGGGTGACCTGGACAATTTCTGTAATCCCTCTCACTCAGTTTCCTACTCAGTAAAACGGGGATGATAATGTGCCTTGCAAGGCTTTTGTGAGGCTTCATCAATGAGGTGATGTATGTGAAGTGTCTGGCACAGCATGGGCACTCAAACAGAGGTGCTTTTTCACACTTTACACCTTACAAGGTACTTTTCACATGTGTCATCGCGATACTTGCAAGGTTGCTGAGAGGTAGATGGGGTTATAATCCCTGGTGTTCAAGAAAGGAAGCAGAGGCTCAATGGGGTTGAATGACTTCTCTGAGTTCACAGAGCTCAGTAAGTGGCAGGGTTGGAACTCACATTCAGACTCTCTGACTCCAGACTTAGGTTTTTCCGCACCTCCACGCTGAGGCCAGCCCCAGGCAGTGAGAAGCCCAAAGTCCGAAGCACAGAGTGCTGTGTGTTGGGCTCTGTGTGTTGAGGAGTCTTGTGACTGCCTTGGGGCTTTGGGCTGTAGTCAGCTGACAGTCCTTTGTGCTCTGTGGGGATGACGTAGGCCAATGGGAGGACAAATGCCCCTCTGAACTGTCTTCTGGGCAGTGACAGTCATGGTCATAATCCTGACCCTGAGCCAGTGCCAGGTCTCCAAGTGCCTTCTGAATGACCACAGGCGATTGGTTTTAGTGGTAGGTGTGTGGGGATCTGTTCTGGTCATCTGGATGCTGGTCATCGGTGTGCAGTATTGATCAGGACCTGCAAACCCAAAAGCTTATGGGAGCTGGCACGTCACGTGAGTAGAGCAGGCAGGTGCAGGGGTTTTGATGTCCCTGCACTGACA
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AAGAGGCCAGACGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCATCATGCGCGTGTAGGGGGCAGTTAAAAAGCAGAAGTAAGAAAGATTGCCTAGGGAGGCAGGAAGGGTGAGGTGAGAGGAGAAGAGGCCCAGGACCAGATTCTAGTCACCAACAGCGTTTAAGGGGCAGGTAAGGAAAACAAAACCATCAGCAAAGACTGAGAATGAAAGCCCAGAGAGGAAGGAAAAGCCACACATACAATCAGTACAGCTCCATCTGAATAAAGGTAGCGCCCCCCCCCCCCCCAAATCATTAGAGAAATGCCTGAATCGTGTTTTCTGTTGATATTTCCTAAGCACCTAGATGTAGGGAATAGAAATAAATGGCTCCCTCTGTCTCATCCCCTTCCTGCCCTCTGAGAGGCAGCTGTGAATGCGTGCTTCCTTTCTGGGGGTGCAGATACTTTCTGGACCAACCCTCAGTACCGTCTGAAGCTCCTGGAGGAGGACGATGACCCTGATGACTCGGAGGTGATTTGCAGCTTCCTGGTGGCCCTGATGCAGAAGAACCGGCGGAAGGACCGGAAGCTAGGGGCCAGTCTCTTCACCATTGGCTTCGCCATCTACGAGGTGTGCAGTCCTGATTGGCTCCAGCCCAGGAAACATACTTTCCCAGGGAGGACGCTTCCAGGGGCTTCTAGAGGGGCCCTCTGGCTTCCTCAATACCCAGTGACCCACAGAGCTCCTGGTATCAGGACCACTTGTGTTTGTAACAAGCAAAAAATACCAGGGGGGGCATTAGAGAGGCAGTGGAGCGGGCCTGGCAGAACAGGTGCCTGGGGGTCAGGCTTCCGCATGCGGGCTGCAGTTGCTGGCATTGCCTTCCGCAGGCTCCTCATCCTCATTCACATCTGAAGCATCTTCCTTTCTGTTTCTTCTCAAGGTTCCCAAAGAGGTATAGCAGCAGCAGCGGCCAGCAGTTGTGTGCAGCACTACCCAGGGGGCCCCGAGTCTGTCTGTGGCTCGTCGAGAAGCTTCCTGGTGGGGTTTGTGGGCAGGACTGTGATAGGAGAGGGCCTTGCCTGTGTTATTTCCACTGCAGAGCAGGTGCCTCAGGGCATTGCATGACCCATGACTACCACCCCCAGGATGTGCACTTTCTCCCTCGCACCAGACACTGCACGTCACACACATGCCTTTGCACACTCACCCTCCTCCACGCTTACAGCCACACACACAGTCACACAGACGCGTTCTGAGGGTGGCTGCCCGCTTGGGATGGAGGAATCACTTCCCTCAGAACCCAGCCAAGTCCTCTAGGCCTCCTTGGGGGTCCTTCCAGCCTGAGGGGCTTCGGAGCTGAGGAGCAGCTGTTCTGGTAAGTGTCCCTGAGTGTGGGGATGACACATTTGCCATTCACTCTGAATCACAACAGAAAAGGAAGAGGAAGTGAGGTAGGGAGGCTATTTAAGCCTTGGGAGTCGGAAGTAGGGAGGTTGAAACTGTGACATGGGTGACCAGGGAGTTGGGAAGGGACCCTTGGAGGTGGCTGTGGCAGGACAGGATGTTCCTCCCGAGGGGCTCATGTGCCCTGGGCTCTCCCCATCTCTCAGATGCACGGGAACAAGCAGCACCTGCAGAAGGACTTCTTCCTGTACAACGCCTCCAAGGCCAGGAGCAAAACCTACATCAACATGCGGGAGGTGTCCCAGCGCTTCCGCCTGCCTCCCAGCGAGTACGTCATCGTGCCCTCCACCTACGAGCCCCACCAGGAGTGGGAATTCATCCTCCGGGTCTTCTCTGAAAAGAGGAACCTCTCTGAGTGAGTGCTGGCCCAGCTTTCCCACGTGTTTCTAAAAGCTCACATGGCCCACTCCAGAGGTTGAAGGCATGAGGCAGCTAGACACGTCTCCTCCAGGGTCCTTCTGCTGCTCCTGAGCCACTGGCCACATTACCCCCATTCATTCATTCATCCATTCTGTGATATTTATTGAGCACCTACTATGTTCCAGGCACTGTCCTAGGCACTAAGGATAGAGTAGTGAAGTAAACAGAAAGAAATCCCTGCCTTCATGGAGCTTAATATTCTAACATGAGACAATAATGGATAGGAAAAACATATGTAGCATGTTAGATTTGGAGAGGTGATATGGAGCAAAAATAAAGTAGGGAAGAGGGATAGGAGGTGTTGGGGATGCTTGAAATTTTAGGTTAGCATGGCCAGGAAAGCCACATCCTGTCCCTGGCCACCACAGATGAGCTCATAGCCCCTGCCACTCTGATCTCTGTCCTTGGAAGATGCACCAGGTCCATGGGTAGGTGGCTGGGTCATGCCTTTGGGGGGCTCTGAGCAATACTAACAAGAACCTGCGTGCCTGGGCTTGGCTGTCGGGGATGGTGCTGACATGGGGCTGGTTCCTGGGGTTGGGGTGTTCCAGGGGTTCTCTAGAGGCTGGTTCTGGCTTGGCTGCCAGGAAGCCGTGCACCAGAGCAAACCGTCCACGGGCCTCCTGCTTGCTTCTGGTGACACTGAGACCCCACATGTCTGTATTCCTCACAGGGAAGTTGAAAATACCATCTCCGTGGATCGGCCAGTGGTGAGTGGTTTAGATCTTCTGTGCGAAAAGTCCAGAGGGTCCCCTTCCCTGACCATGCAGGGGACAGATGGTGCAGGGGAGAATGGGCACTGGCAGAGGGAATGGGAGTCTGGGCTGTGCTGAGCAGTCCCTCCTTGGCACTGCAAATCCTACTTTGGCATGGCCAGAAGTAATCGGCCTTAAGCACCGGGGGCCATTGAGGCAGTTCAGGGGCTGGGAAATATGGAAGAGGGTCCTGGAAAGGAGAAGCAATTTGAACAATCGGAGGGAACAAGGCCACAGGAAGGGATGACAAGAGCCGCAGCGAACACTGGATTCTGAGACTGGATAACATTGGATTTCACACATAGAGAAAAGAAAGTAAGCTGGTGCCGGACCTGGTGTTGACACTTGGATCCTCCACTTACCAGCGGGGTGACCTGGACAATTTCTGTAATCCCTCTCACTCAGTTTCCTACTCAGTAAAACGGGGATGATAATGTGCCTTGCAAGGCTTTTGTGAGGCTTCATCAATGAGGTGATGTATGTGAAGTGTCTGGCACAGCATGGGCACTCAAACAGAGGTGCTTTTTCACACTTTACACCTTACAAGGTACTTTTCACATGTGTCATCGCGATACTTGCAAGGTTGCTGAGAGGTAGATGGGGTTATAATCCCTGGTGTTCAAGAAAGGAAGCAGAGGCTCAATGGGGTTGAATGACTTCTCTGAGTTCACAGAGCTCAGTAAGTGGCAGGGTTGGAACTCACATTCAGACTCTCTGACTCCAGACTTAGGTTTTTCCGCACCTCCACGCTGAGGCCAGCCCCAGGCAGTGAGAAGCCCAAAGTCCGAAGCACAGAGTGCTGTGTGTTGGGCTCTGTGTGTTGAGGAGTCTTGTGACTGCCTTGGGGCTTTGGGCTGTAGTCAGCTGACAGTCCTTTGTGCTCTGTGGGGATGACGTAGGCCAATGGGAGGACAAATGCCCCTCTGAACTGTCTTCTGGGCAGTGACAGTCATGGTCATAATCCTGACCCTGAGCCAGTGCCAGGTCTCCAAGTGCCTTCTGAATGACCACAGGCGATTGGTTTTAGTGGTAGGTGTGTGGGGATCTGTTCTGGTCATCTGGATGCTGGTCATCGGTGTGCAGTATTGATCAGGACCTGCAAACCCAAAAGCTTATGGGAGCTGGCACGTCACGTGAGTAGAGCAGGCAGGTGCAGGGGTTTTGATGTCCCTGCACTGACA
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Task1_train_20584
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This gene mutation involves CAPN3 (calpain 3) on Chromosome 15. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Autosomal recessive limb-girdle muscular dystrophy
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AAGAGGCCAGACGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCATCATGCGCGTGTAGGGGGCAGTTAAAAAGCAGAAGTAAGAAAGATTGCCTAGGGAGGCAGGAAGGGTGAGGTGAGAGGAGAAGAGGCCCAGGACCAGATTCTAGTCACCAACAGCGTTTAAGGGGCAGGTAAGGAAAACAAAACCATCAGCAAAGACTGAGAATGAAAGCCCAGAGAGGAAGGAAAAGCCACACATACAATCAGTACAGCTCCATCTGAATAAAGGTAGCGCCCCCCCCCCCCCCAAATCATTAGAGAAATGCCTGAATCGTGTTTTCTGTTGATATTTCCTAAGCACCTAGATGTAGGGAATAGAAATAAATGGCTCCCTCTGTCTCATCCCCTTCCTGCCCTCTGAGAGGCAGCTGTGAATGCGTGCTTCCTTTCTGGGGGTGCAGATACTTTCTGGACCAACCCTCAGTACCGTCTGAAGCTCCTGGAGGAGGACGATGACCCTGATGACTCGGAGGTGATTTGCAGCTTCCTGGTGGCCCTGATGCAGAAGAACCGGCGGAAGGACCGGAAGCTAGGGGCCAGTCTCTTCACCATTGGCTTCGCCATCTACGAGGTGTGCAGTCCTGATTGGCTCCAGCCCAGGAAACATACTTTCCCAGGGAGGACGCTTCCAGGGGCTTCTAGAGGGGCCCTCTGGCTTCCTCAATACCCAGTGACCCACAGAGCTCCTGGTATCAGGACCACTTGTGTTTGTAACAAGCAAAAAATACCAGGGGGGGCATTAGAGAGGCAGTGGAGCGGGCCTGGCAGAACAGGTGCCTGGGGGTCAGGCTTCCGCATGCGGGCTGCAGTTGCTGGCATTGCCTTCCGCAGGCTCCTCATCCTCATTCACATCTGAAGCATCTTCCTTTCTGTTTCTTCTCAAGGTTCCCAAAGAGGTATAGCAGCAGCAGCGGCCAGCAGTTGTGTGCAGCACTACCCAGGGGGCCCCGAGTCTGTCTGTGGCTCGTCGAGAAGCTTCCTGGTGGGGTTTGTGGGCAGGACTGTGATAGGAGAGGGCCTTGCCTGTGTTATTTCCACTGCAGAGCAGGTGCCTCAGGGCATTGCATGACCCATGACTACCACCCCCAGGATGTGCACTTTCTCCCTCGCACCAGACACTGCACGTCACACACATGCCTTTGCACACTCACCCTCCTCCACGCTTACAGCCACACACACAGTCACACAGACGCGTTCTGAGGGTGGCTGCCCGCTTGGGATGGAGGAATCACTTCCCTCAGAACCCAGCCAAGTCCTCTAGGCCTCCTTGGGGGTCCTTCCAGCCTGAGGGGCTTCGGAGCTGAGGAGCAGCTGTTCTGGTAAGTGTCCCTGAGTGTGGGGATGACACATTTGCCATTCACTCTGAATCACAACAGAAAAGGAAGAGGAAGTGAGGTAGGGAGGCTATTTAAGCCTTGGGAGTCGGAAGTAGGGAGGTTGAAACTGTGACATGGGTGACCAGGGAGTTGGGAAGGGACCCTTGGAGGTGGCTGTGGCAGGACAGGATGTTCCTCCCGAGGGGCTCATGTGCCCTGGGCTCTCCCCATCTCTCAGATGCACGGGAACAAGCAGCACCTGCAGAAGGACTTCTTCCTGTACAACGCCTCCAAGGCCAGGAGCAAAACCTACATCAACATGCGGGAGGTGTCCCAGCGCTTCCGCCTGCCTCCCAGCGAGTACGTCATCGTGCCCTCCACCTACGAGCCCCACCAGGAGGGGGAATTCATCCTCCGGGTCTTCTCTGAAAAGAGGAACCTCTCTGAGTGAGTGCTGGCCCAGCTTTCCCACGTGTTTCTAAAAGCTCACATGGCCCACTCCAGAGGTTGAAGGCATGAGGCAGCTAGACACGTCTCCTCCAGGGTCCTTCTGCTGCTCCTGAGCCACTGGCCACATTACCCCCATTCATTCATTCATCCATTCTGTGATATTTATTGAGCACCTACTATGTTCCAGGCACTGTCCTAGGCACTAAGGATAGAGTAGTGAAGTAAACAGAAAGAAATCCCTGCCTTCATGGAGCTTAATATTCTAACATGAGACAATAATGGATAGGAAAAACATATGTAGCATGTTAGATTTGGAGAGGTGATATGGAGCAAAAATAAAGTAGGGAAGAGGGATAGGAGGTGTTGGGGATGCTTGAAATTTTAGGTTAGCATGGCCAGGAAAGCCACATCCTGTCCCTGGCCACCACAGATGAGCTCATAGCCCCTGCCACTCTGATCTCTGTCCTTGGAAGATGCACCAGGTCCATGGGTAGGTGGCTGGGTCATGCCTTTGGGGGGCTCTGAGCAATACTAACAAGAACCTGCGTGCCTGGGCTTGGCTGTCGGGGATGGTGCTGACATGGGGCTGGTTCCTGGGGTTGGGGTGTTCCAGGGGTTCTCTAGAGGCTGGTTCTGGCTTGGCTGCCAGGAAGCCGTGCACCAGAGCAAACCGTCCACGGGCCTCCTGCTTGCTTCTGGTGACACTGAGACCCCACATGTCTGTATTCCTCACAGGGAAGTTGAAAATACCATCTCCGTGGATCGGCCAGTGGTGAGTGGTTTAGATCTTCTGTGCGAAAAGTCCAGAGGGTCCCCTTCCCTGACCATGCAGGGGACAGATGGTGCAGGGGAGAATGGGCACTGGCAGAGGGAATGGGAGTCTGGGCTGTGCTGAGCAGTCCCTCCTTGGCACTGCAAATCCTACTTTGGCATGGCCAGAAGTAATCGGCCTTAAGCACCGGGGGCCATTGAGGCAGTTCAGGGGCTGGGAAATATGGAAGAGGGTCCTGGAAAGGAGAAGCAATTTGAACAATCGGAGGGAACAAGGCCACAGGAAGGGATGACAAGAGCCGCAGCGAACACTGGATTCTGAGACTGGATAACATTGGATTTCACACATAGAGAAAAGAAAGTAAGCTGGTGCCGGACCTGGTGTTGACACTTGGATCCTCCACTTACCAGCGGGGTGACCTGGACAATTTCTGTAATCCCTCTCACTCAGTTTCCTACTCAGTAAAACGGGGATGATAATGTGCCTTGCAAGGCTTTTGTGAGGCTTCATCAATGAGGTGATGTATGTGAAGTGTCTGGCACAGCATGGGCACTCAAACAGAGGTGCTTTTTCACACTTTACACCTTACAAGGTACTTTTCACATGTGTCATCGCGATACTTGCAAGGTTGCTGAGAGGTAGATGGGGTTATAATCCCTGGTGTTCAAGAAAGGAAGCAGAGGCTCAATGGGGTTGAATGACTTCTCTGAGTTCACAGAGCTCAGTAAGTGGCAGGGTTGGAACTCACATTCAGACTCTCTGACTCCAGACTTAGGTTTTTCCGCACCTCCACGCTGAGGCCAGCCCCAGGCAGTGAGAAGCCCAAAGTCCGAAGCACAGAGTGCTGTGTGTTGGGCTCTGTGTGTTGAGGAGTCTTGTGACTGCCTTGGGGCTTTGGGCTGTAGTCAGCTGACAGTCCTTTGTGCTCTGTGGGGATGACGTAGGCCAATGGGAGGACAAATGCCCCTCTGAACTGTCTTCTGGGCAGTGACAGTCATGGTCATAATCCTGACCCTGAGCCAGTGCCAGGTCTCCAAGTGCCTTCTGAATGACCACAGGCGATTGGTTTTAGTGGTAGGTGTGTGGGGATCTGTTCTGGTCATCTGGATGCTGGTCATCGGTGTGCAGTATTGATCAGGACCTGCAAACCCAAAAGCTTATGGGAGCTGGCACGTCACGTGAGTAGAGCAGGCAGGTGCAGGGGTTTTGATGTCCCTGCACTGACA
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AAGAGGCCAGACGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCATCATGCGCGTGTAGGGGGCAGTTAAAAAGCAGAAGTAAGAAAGATTGCCTAGGGAGGCAGGAAGGGTGAGGTGAGAGGAGAAGAGGCCCAGGACCAGATTCTAGTCACCAACAGCGTTTAAGGGGCAGGTAAGGAAAACAAAACCATCAGCAAAGACTGAGAATGAAAGCCCAGAGAGGAAGGAAAAGCCACACATACAATCAGTACAGCTCCATCTGAATAAAGGTAGCGCCCCCCCCCCCCCCAAATCATTAGAGAAATGCCTGAATCGTGTTTTCTGTTGATATTTCCTAAGCACCTAGATGTAGGGAATAGAAATAAATGGCTCCCTCTGTCTCATCCCCTTCCTGCCCTCTGAGAGGCAGCTGTGAATGCGTGCTTCCTTTCTGGGGGTGCAGATACTTTCTGGACCAACCCTCAGTACCGTCTGAAGCTCCTGGAGGAGGACGATGACCCTGATGACTCGGAGGTGATTTGCAGCTTCCTGGTGGCCCTGATGCAGAAGAACCGGCGGAAGGACCGGAAGCTAGGGGCCAGTCTCTTCACCATTGGCTTCGCCATCTACGAGGTGTGCAGTCCTGATTGGCTCCAGCCCAGGAAACATACTTTCCCAGGGAGGACGCTTCCAGGGGCTTCTAGAGGGGCCCTCTGGCTTCCTCAATACCCAGTGACCCACAGAGCTCCTGGTATCAGGACCACTTGTGTTTGTAACAAGCAAAAAATACCAGGGGGGGCATTAGAGAGGCAGTGGAGCGGGCCTGGCAGAACAGGTGCCTGGGGGTCAGGCTTCCGCATGCGGGCTGCAGTTGCTGGCATTGCCTTCCGCAGGCTCCTCATCCTCATTCACATCTGAAGCATCTTCCTTTCTGTTTCTTCTCAAGGTTCCCAAAGAGGTATAGCAGCAGCAGCGGCCAGCAGTTGTGTGCAGCACTACCCAGGGGGCCCCGAGTCTGTCTGTGGCTCGTCGAGAAGCTTCCTGGTGGGGTTTGTGGGCAGGACTGTGATAGGAGAGGGCCTTGCCTGTGTTATTTCCACTGCAGAGCAGGTGCCTCAGGGCATTGCATGACCCATGACTACCACCCCCAGGATGTGCACTTTCTCCCTCGCACCAGACACTGCACGTCACACACATGCCTTTGCACACTCACCCTCCTCCACGCTTACAGCCACACACACAGTCACACAGACGCGTTCTGAGGGTGGCTGCCCGCTTGGGATGGAGGAATCACTTCCCTCAGAACCCAGCCAAGTCCTCTAGGCCTCCTTGGGGGTCCTTCCAGCCTGAGGGGCTTCGGAGCTGAGGAGCAGCTGTTCTGGTAAGTGTCCCTGAGTGTGGGGATGACACATTTGCCATTCACTCTGAATCACAACAGAAAAGGAAGAGGAAGTGAGGTAGGGAGGCTATTTAAGCCTTGGGAGTCGGAAGTAGGGAGGTTGAAACTGTGACATGGGTGACCAGGGAGTTGGGAAGGGACCCTTGGAGGTGGCTGTGGCAGGACAGGATGTTCCTCCCGAGGGGCTCATGTGCCCTGGGCTCTCCCCATCTCTCAGATGCACGGGAACAAGCAGCACCTGCAGAAGGACTTCTTCCTGTACAACGCCTCCAAGGCCAGGAGCAAAACCTACATCAACATGCGGGAGGTGTCCCAGCGCTTCCGCCTGCCTCCCAGCGAGTACGTCATCGTGCCCTCCACCTACGAGCCCCACCAGGAGTGGGAATTCATCCTCCGGGTCTTCTCTGAAAAGAGGAACCTCTCTGAGTGAGTGCTGGCCCAGCTTTCCCACGTGTTTCTAAAAGCTCACATGGCCCACTCCAGAGGTTGAAGGCATGAGGCAGCTAGACACGTCTCCTCCAGGGTCCTTCTGCTGCTCCTGAGCCACTGGCCACATTACCCCCATTCATTCATTCATCCATTCTGTGATATTTATTGAGCACCTACTATGTTCCAGGCACTGTCCTAGGCACTAAGGATAGAGTAGTGAAGTAAACAGAAAGAAATCCCTGCCTTCATGGAGCTTAATATTCTAACATGAGACAATAATGGATAGGAAAAACATATGTAGCATGTTAGATTTGGAGAGGTGATATGGAGCAAAAATAAAGTAGGGAAGAGGGATAGGAGGTGTTGGGGATGCTTGAAATTTTAGGTTAGCATGGCCAGGAAAGCCACATCCTGTCCCTGGCCACCACAGATGAGCTCATAGCCCCTGCCACTCTGATCTCTGTCCTTGGAAGATGCACCAGGTCCATGGGTAGGTGGCTGGGTCATGCCTTTGGGGGGCTCTGAGCAATACTAACAAGAACCTGCGTGCCTGGGCTTGGCTGTCGGGGATGGTGCTGACATGGGGCTGGTTCCTGGGGTTGGGGTGTTCCAGGGGTTCTCTAGAGGCTGGTTCTGGCTTGGCTGCCAGGAAGCCGTGCACCAGAGCAAACCGTCCACGGGCCTCCTGCTTGCTTCTGGTGACACTGAGACCCCACATGTCTGTATTCCTCACAGGGAAGTTGAAAATACCATCTCCGTGGATCGGCCAGTGGTGAGTGGTTTAGATCTTCTGTGCGAAAAGTCCAGAGGGTCCCCTTCCCTGACCATGCAGGGGACAGATGGTGCAGGGGAGAATGGGCACTGGCAGAGGGAATGGGAGTCTGGGCTGTGCTGAGCAGTCCCTCCTTGGCACTGCAAATCCTACTTTGGCATGGCCAGAAGTAATCGGCCTTAAGCACCGGGGGCCATTGAGGCAGTTCAGGGGCTGGGAAATATGGAAGAGGGTCCTGGAAAGGAGAAGCAATTTGAACAATCGGAGGGAACAAGGCCACAGGAAGGGATGACAAGAGCCGCAGCGAACACTGGATTCTGAGACTGGATAACATTGGATTTCACACATAGAGAAAAGAAAGTAAGCTGGTGCCGGACCTGGTGTTGACACTTGGATCCTCCACTTACCAGCGGGGTGACCTGGACAATTTCTGTAATCCCTCTCACTCAGTTTCCTACTCAGTAAAACGGGGATGATAATGTGCCTTGCAAGGCTTTTGTGAGGCTTCATCAATGAGGTGATGTATGTGAAGTGTCTGGCACAGCATGGGCACTCAAACAGAGGTGCTTTTTCACACTTTACACCTTACAAGGTACTTTTCACATGTGTCATCGCGATACTTGCAAGGTTGCTGAGAGGTAGATGGGGTTATAATCCCTGGTGTTCAAGAAAGGAAGCAGAGGCTCAATGGGGTTGAATGACTTCTCTGAGTTCACAGAGCTCAGTAAGTGGCAGGGTTGGAACTCACATTCAGACTCTCTGACTCCAGACTTAGGTTTTTCCGCACCTCCACGCTGAGGCCAGCCCCAGGCAGTGAGAAGCCCAAAGTCCGAAGCACAGAGTGCTGTGTGTTGGGCTCTGTGTGTTGAGGAGTCTTGTGACTGCCTTGGGGCTTTGGGCTGTAGTCAGCTGACAGTCCTTTGTGCTCTGTGGGGATGACGTAGGCCAATGGGAGGACAAATGCCCCTCTGAACTGTCTTCTGGGCAGTGACAGTCATGGTCATAATCCTGACCCTGAGCCAGTGCCAGGTCTCCAAGTGCCTTCTGAATGACCACAGGCGATTGGTTTTAGTGGTAGGTGTGTGGGGATCTGTTCTGGTCATCTGGATGCTGGTCATCGGTGTGCAGTATTGATCAGGACCTGCAAACCCAAAAGCTTATGGGAGCTGGCACGTCACGTGAGTAGAGCAGGCAGGTGCAGGGGTTTTGATGTCCCTGCACTGACA
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Task1_train_20585
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Mutation context: Chromosome 15, Gene CAPN3 (calpain 3). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Muscular dystrophy, limb-girdle, autosomal dominant 4
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AAGAGGCCAGACGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCATCATGCGCGTGTAGGGGGCAGTTAAAAAGCAGAAGTAAGAAAGATTGCCTAGGGAGGCAGGAAGGGTGAGGTGAGAGGAGAAGAGGCCCAGGACCAGATTCTAGTCACCAACAGCGTTTAAGGGGCAGGTAAGGAAAACAAAACCATCAGCAAAGACTGAGAATGAAAGCCCAGAGAGGAAGGAAAAGCCACACATACAATCAGTACAGCTCCATCTGAATAAAGGTAGCGCCCCCCCCCCCCCCAAATCATTAGAGAAATGCCTGAATCGTGTTTTCTGTTGATATTTCCTAAGCACCTAGATGTAGGGAATAGAAATAAATGGCTCCCTCTGTCTCATCCCCTTCCTGCCCTCTGAGAGGCAGCTGTGAATGCGTGCTTCCTTTCTGGGGGTGCAGATACTTTCTGGACCAACCCTCAGTACCGTCTGAAGCTCCTGGAGGAGGACGATGACCCTGATGACTCGGAGGTGATTTGCAGCTTCCTGGTGGCCCTGATGCAGAAGAACCGGCGGAAGGACCGGAAGCTAGGGGCCAGTCTCTTCACCATTGGCTTCGCCATCTACGAGGTGTGCAGTCCTGATTGGCTCCAGCCCAGGAAACATACTTTCCCAGGGAGGACGCTTCCAGGGGCTTCTAGAGGGGCCCTCTGGCTTCCTCAATACCCAGTGACCCACAGAGCTCCTGGTATCAGGACCACTTGTGTTTGTAACAAGCAAAAAATACCAGGGGGGGCATTAGAGAGGCAGTGGAGCGGGCCTGGCAGAACAGGTGCCTGGGGGTCAGGCTTCCGCATGCGGGCTGCAGTTGCTGGCATTGCCTTCCGCAGGCTCCTCATCCTCATTCACATCTGAAGCATCTTCCTTTCTGTTTCTTCTCAAGGTTCCCAAAGAGGTATAGCAGCAGCAGCGGCCAGCAGTTGTGTGCAGCACTACCCAGGGGGCCCCGAGTCTGTCTGTGGCTCGTCGAGAAGCTTCCTGGTGGGGTTTGTGGGCAGGACTGTGATAGGAGAGGGCCTTGCCTGTGTTATTTCCACTGCAGAGCAGGTGCCTCAGGGCATTGCATGACCCATGACTACCACCCCCAGGATGTGCACTTTCTCCCTCGCACCAGACACTGCACGTCACACACATGCCTTTGCACACTCACCCTCCTCCACGCTTACAGCCACACACACAGTCACACAGACGCGTTCTGAGGGTGGCTGCCCGCTTGGGATGGAGGAATCACTTCCCTCAGAACCCAGCCAAGTCCTCTAGGCCTCCTTGGGGGTCCTTCCAGCCTGAGGGGCTTCGGAGCTGAGGAGCAGCTGTTCTGGTAAGTGTCCCTGAGTGTGGGGATGACACATTTGCCATTCACTCTGAATCACAACAGAAAAGGAAGAGGAAGTGAGGTAGGGAGGCTATTTAAGCCTTGGGAGTCGGAAGTAGGGAGGTTGAAACTGTGACATGGGTGACCAGGGAGTTGGGAAGGGACCCTTGGAGGTGGCTGTGGCAGGACAGGATGTTCCTCCCGAGGGGCTCATGTGCCCTGGGCTCTCCCCATCTCTCAGATGCACGGGAACAAGCAGCACCTGCAGAAGGACTTCTTCCTGTACAACGCCTCCAAGGCCAGGAGCAAAACCTACATCAACATGCGGGAGGTGTCCCAGCGCTTCCGCCTGCCTCCCAGCGAGTACGTCATCGTGCCCTCCACCTACGAGCCCCACCAGGAGGGGGAATTCATCCTCCGGGTCTTCTCTGAAAAGAGGAACCTCTCTGAGTGAGTGCTGGCCCAGCTTTCCCACGTGTTTCTAAAAGCTCACATGGCCCACTCCAGAGGTTGAAGGCATGAGGCAGCTAGACACGTCTCCTCCAGGGTCCTTCTGCTGCTCCTGAGCCACTGGCCACATTACCCCCATTCATTCATTCATCCATTCTGTGATATTTATTGAGCACCTACTATGTTCCAGGCACTGTCCTAGGCACTAAGGATAGAGTAGTGAAGTAAACAGAAAGAAATCCCTGCCTTCATGGAGCTTAATATTCTAACATGAGACAATAATGGATAGGAAAAACATATGTAGCATGTTAGATTTGGAGAGGTGATATGGAGCAAAAATAAAGTAGGGAAGAGGGATAGGAGGTGTTGGGGATGCTTGAAATTTTAGGTTAGCATGGCCAGGAAAGCCACATCCTGTCCCTGGCCACCACAGATGAGCTCATAGCCCCTGCCACTCTGATCTCTGTCCTTGGAAGATGCACCAGGTCCATGGGTAGGTGGCTGGGTCATGCCTTTGGGGGGCTCTGAGCAATACTAACAAGAACCTGCGTGCCTGGGCTTGGCTGTCGGGGATGGTGCTGACATGGGGCTGGTTCCTGGGGTTGGGGTGTTCCAGGGGTTCTCTAGAGGCTGGTTCTGGCTTGGCTGCCAGGAAGCCGTGCACCAGAGCAAACCGTCCACGGGCCTCCTGCTTGCTTCTGGTGACACTGAGACCCCACATGTCTGTATTCCTCACAGGGAAGTTGAAAATACCATCTCCGTGGATCGGCCAGTGGTGAGTGGTTTAGATCTTCTGTGCGAAAAGTCCAGAGGGTCCCCTTCCCTGACCATGCAGGGGACAGATGGTGCAGGGGAGAATGGGCACTGGCAGAGGGAATGGGAGTCTGGGCTGTGCTGAGCAGTCCCTCCTTGGCACTGCAAATCCTACTTTGGCATGGCCAGAAGTAATCGGCCTTAAGCACCGGGGGCCATTGAGGCAGTTCAGGGGCTGGGAAATATGGAAGAGGGTCCTGGAAAGGAGAAGCAATTTGAACAATCGGAGGGAACAAGGCCACAGGAAGGGATGACAAGAGCCGCAGCGAACACTGGATTCTGAGACTGGATAACATTGGATTTCACACATAGAGAAAAGAAAGTAAGCTGGTGCCGGACCTGGTGTTGACACTTGGATCCTCCACTTACCAGCGGGGTGACCTGGACAATTTCTGTAATCCCTCTCACTCAGTTTCCTACTCAGTAAAACGGGGATGATAATGTGCCTTGCAAGGCTTTTGTGAGGCTTCATCAATGAGGTGATGTATGTGAAGTGTCTGGCACAGCATGGGCACTCAAACAGAGGTGCTTTTTCACACTTTACACCTTACAAGGTACTTTTCACATGTGTCATCGCGATACTTGCAAGGTTGCTGAGAGGTAGATGGGGTTATAATCCCTGGTGTTCAAGAAAGGAAGCAGAGGCTCAATGGGGTTGAATGACTTCTCTGAGTTCACAGAGCTCAGTAAGTGGCAGGGTTGGAACTCACATTCAGACTCTCTGACTCCAGACTTAGGTTTTTCCGCACCTCCACGCTGAGGCCAGCCCCAGGCAGTGAGAAGCCCAAAGTCCGAAGCACAGAGTGCTGTGTGTTGGGCTCTGTGTGTTGAGGAGTCTTGTGACTGCCTTGGGGCTTTGGGCTGTAGTCAGCTGACAGTCCTTTGTGCTCTGTGGGGATGACGTAGGCCAATGGGAGGACAAATGCCCCTCTGAACTGTCTTCTGGGCAGTGACAGTCATGGTCATAATCCTGACCCTGAGCCAGTGCCAGGTCTCCAAGTGCCTTCTGAATGACCACAGGCGATTGGTTTTAGTGGTAGGTGTGTGGGGATCTGTTCTGGTCATCTGGATGCTGGTCATCGGTGTGCAGTATTGATCAGGACCTGCAAACCCAAAAGCTTATGGGAGCTGGCACGTCACGTGAGTAGAGCAGGCAGGTGCAGGGGTTTTGATGTCCCTGCACTGACA
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AAGAGGCCAGACGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCATCATGCGCGTGTAGGGGGCAGTTAAAAAGCAGAAGTAAGAAAGATTGCCTAGGGAGGCAGGAAGGGTGAGGTGAGAGGAGAAGAGGCCCAGGACCAGATTCTAGTCACCAACAGCGTTTAAGGGGCAGGTAAGGAAAACAAAACCATCAGCAAAGACTGAGAATGAAAGCCCAGAGAGGAAGGAAAAGCCACACATACAATCAGTACAGCTCCATCTGAATAAAGGTAGCGCCCCCCCCCCCCCCAAATCATTAGAGAAATGCCTGAATCGTGTTTTCTGTTGATATTTCCTAAGCACCTAGATGTAGGGAATAGAAATAAATGGCTCCCTCTGTCTCATCCCCTTCCTGCCCTCTGAGAGGCAGCTGTGAATGCGTGCTTCCTTTCTGGGGGTGCAGATACTTTCTGGACCAACCCTCAGTACCGTCTGAAGCTCCTGGAGGAGGACGATGACCCTGATGACTCGGAGGTGATTTGCAGCTTCCTGGTGGCCCTGATGCAGAAGAACCGGCGGAAGGACCGGAAGCTAGGGGCCAGTCTCTTCACCATTGGCTTCGCCATCTACGAGGTGTGCAGTCCTGATTGGCTCCAGCCCAGGAAACATACTTTCCCAGGGAGGACGCTTCCAGGGGCTTCTAGAGGGGCCCTCTGGCTTCCTCAATACCCAGTGACCCACAGAGCTCCTGGTATCAGGACCACTTGTGTTTGTAACAAGCAAAAAATACCAGGGGGGGCATTAGAGAGGCAGTGGAGCGGGCCTGGCAGAACAGGTGCCTGGGGGTCAGGCTTCCGCATGCGGGCTGCAGTTGCTGGCATTGCCTTCCGCAGGCTCCTCATCCTCATTCACATCTGAAGCATCTTCCTTTCTGTTTCTTCTCAAGGTTCCCAAAGAGGTATAGCAGCAGCAGCGGCCAGCAGTTGTGTGCAGCACTACCCAGGGGGCCCCGAGTCTGTCTGTGGCTCGTCGAGAAGCTTCCTGGTGGGGTTTGTGGGCAGGACTGTGATAGGAGAGGGCCTTGCCTGTGTTATTTCCACTGCAGAGCAGGTGCCTCAGGGCATTGCATGACCCATGACTACCACCCCCAGGATGTGCACTTTCTCCCTCGCACCAGACACTGCACGTCACACACATGCCTTTGCACACTCACCCTCCTCCACGCTTACAGCCACACACACAGTCACACAGACGCGTTCTGAGGGTGGCTGCCCGCTTGGGATGGAGGAATCACTTCCCTCAGAACCCAGCCAAGTCCTCTAGGCCTCCTTGGGGGTCCTTCCAGCCTGAGGGGCTTCGGAGCTGAGGAGCAGCTGTTCTGGTAAGTGTCCCTGAGTGTGGGGATGACACATTTGCCATTCACTCTGAATCACAACAGAAAAGGAAGAGGAAGTGAGGTAGGGAGGCTATTTAAGCCTTGGGAGTCGGAAGTAGGGAGGTTGAAACTGTGACATGGGTGACCAGGGAGTTGGGAAGGGACCCTTGGAGGTGGCTGTGGCAGGACAGGATGTTCCTCCCGAGGGGCTCATGTGCCCTGGGCTCTCCCCATCTCTCAGATGCACGGGAACAAGCAGCACCTGCAGAAGGACTTCTTCCTGTACAACGCCTCCAAGGCCAGGAGCAAAACCTACATCAACATGCGGGAGGTGTCCCAGCGCTTCCGCCTGCCTCCCAGCGAGTACGTCATCGTGCCCTCCACCTACGAGCCCCACCAGGAGTGGGAATTCATCCTCCGGGTCTTCTCTGAAAAGAGGAACCTCTCTGAGTGAGTGCTGGCCCAGCTTTCCCACGTGTTTCTAAAAGCTCACATGGCCCACTCCAGAGGTTGAAGGCATGAGGCAGCTAGACACGTCTCCTCCAGGGTCCTTCTGCTGCTCCTGAGCCACTGGCCACATTACCCCCATTCATTCATTCATCCATTCTGTGATATTTATTGAGCACCTACTATGTTCCAGGCACTGTCCTAGGCACTAAGGATAGAGTAGTGAAGTAAACAGAAAGAAATCCCTGCCTTCATGGAGCTTAATATTCTAACATGAGACAATAATGGATAGGAAAAACATATGTAGCATGTTAGATTTGGAGAGGTGATATGGAGCAAAAATAAAGTAGGGAAGAGGGATAGGAGGTGTTGGGGATGCTTGAAATTTTAGGTTAGCATGGCCAGGAAAGCCACATCCTGTCCCTGGCCACCACAGATGAGCTCATAGCCCCTGCCACTCTGATCTCTGTCCTTGGAAGATGCACCAGGTCCATGGGTAGGTGGCTGGGTCATGCCTTTGGGGGGCTCTGAGCAATACTAACAAGAACCTGCGTGCCTGGGCTTGGCTGTCGGGGATGGTGCTGACATGGGGCTGGTTCCTGGGGTTGGGGTGTTCCAGGGGTTCTCTAGAGGCTGGTTCTGGCTTGGCTGCCAGGAAGCCGTGCACCAGAGCAAACCGTCCACGGGCCTCCTGCTTGCTTCTGGTGACACTGAGACCCCACATGTCTGTATTCCTCACAGGGAAGTTGAAAATACCATCTCCGTGGATCGGCCAGTGGTGAGTGGTTTAGATCTTCTGTGCGAAAAGTCCAGAGGGTCCCCTTCCCTGACCATGCAGGGGACAGATGGTGCAGGGGAGAATGGGCACTGGCAGAGGGAATGGGAGTCTGGGCTGTGCTGAGCAGTCCCTCCTTGGCACTGCAAATCCTACTTTGGCATGGCCAGAAGTAATCGGCCTTAAGCACCGGGGGCCATTGAGGCAGTTCAGGGGCTGGGAAATATGGAAGAGGGTCCTGGAAAGGAGAAGCAATTTGAACAATCGGAGGGAACAAGGCCACAGGAAGGGATGACAAGAGCCGCAGCGAACACTGGATTCTGAGACTGGATAACATTGGATTTCACACATAGAGAAAAGAAAGTAAGCTGGTGCCGGACCTGGTGTTGACACTTGGATCCTCCACTTACCAGCGGGGTGACCTGGACAATTTCTGTAATCCCTCTCACTCAGTTTCCTACTCAGTAAAACGGGGATGATAATGTGCCTTGCAAGGCTTTTGTGAGGCTTCATCAATGAGGTGATGTATGTGAAGTGTCTGGCACAGCATGGGCACTCAAACAGAGGTGCTTTTTCACACTTTACACCTTACAAGGTACTTTTCACATGTGTCATCGCGATACTTGCAAGGTTGCTGAGAGGTAGATGGGGTTATAATCCCTGGTGTTCAAGAAAGGAAGCAGAGGCTCAATGGGGTTGAATGACTTCTCTGAGTTCACAGAGCTCAGTAAGTGGCAGGGTTGGAACTCACATTCAGACTCTCTGACTCCAGACTTAGGTTTTTCCGCACCTCCACGCTGAGGCCAGCCCCAGGCAGTGAGAAGCCCAAAGTCCGAAGCACAGAGTGCTGTGTGTTGGGCTCTGTGTGTTGAGGAGTCTTGTGACTGCCTTGGGGCTTTGGGCTGTAGTCAGCTGACAGTCCTTTGTGCTCTGTGGGGATGACGTAGGCCAATGGGAGGACAAATGCCCCTCTGAACTGTCTTCTGGGCAGTGACAGTCATGGTCATAATCCTGACCCTGAGCCAGTGCCAGGTCTCCAAGTGCCTTCTGAATGACCACAGGCGATTGGTTTTAGTGGTAGGTGTGTGGGGATCTGTTCTGGTCATCTGGATGCTGGTCATCGGTGTGCAGTATTGATCAGGACCTGCAAACCCAAAAGCTTATGGGAGCTGGCACGTCACGTGAGTAGAGCAGGCAGGTGCAGGGGTTTTGATGTCCCTGCACTGACA
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Task1_train_20586
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The gene CAPN3 (calpain 3) is located on Chromosome 15, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Abnormality of the musculature
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GTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCATCATGCGCGTGTAGGGGGCAGTTAAAAAGCAGAAGTAAGAAAGATTGCCTAGGGAGGCAGGAAGGGTGAGGTGAGAGGAGAAGAGGCCCAGGACCAGATTCTAGTCACCAACAGCGTTTAAGGGGCAGGTAAGGAAAACAAAACCATCAGCAAAGACTGAGAATGAAAGCCCAGAGAGGAAGGAAAAGCCACACATACAATCAGTACAGCTCCATCTGAATAAAGGTAGCGCCCCCCCCCCCCCCAAATCATTAGAGAAATGCCTGAATCGTGTTTTCTGTTGATATTTCCTAAGCACCTAGATGTAGGGAATAGAAATAAATGGCTCCCTCTGTCTCATCCCCTTCCTGCCCTCTGAGAGGCAGCTGTGAATGCGTGCTTCCTTTCTGGGGGTGCAGATACTTTCTGGACCAACCCTCAGTACCGTCTGAAGCTCCTGGAGGAGGACGATGACCCTGATGACTCGGAGGTGATTTGCAGCTTCCTGGTGGCCCTGATGCAGAAGAACCGGCGGAAGGACCGGAAGCTAGGGGCCAGTCTCTTCACCATTGGCTTCGCCATCTACGAGGTGTGCAGTCCTGATTGGCTCCAGCCCAGGAAACATACTTTCCCAGGGAGGACGCTTCCAGGGGCTTCTAGAGGGGCCCTCTGGCTTCCTCAATACCCAGTGACCCACAGAGCTCCTGGTATCAGGACCACTTGTGTTTGTAACAAGCAAAAAATACCAGGGGGGGCATTAGAGAGGCAGTGGAGCGGGCCTGGCAGAACAGGTGCCTGGGGGTCAGGCTTCCGCATGCGGGCTGCAGTTGCTGGCATTGCCTTCCGCAGGCTCCTCATCCTCATTCACATCTGAAGCATCTTCCTTTCTGTTTCTTCTCAAGGTTCCCAAAGAGGTATAGCAGCAGCAGCGGCCAGCAGTTGTGTGCAGCACTACCCAGGGGGCCCCGAGTCTGTCTGTGGCTCGTCGAGAAGCTTCCTGGTGGGGTTTGTGGGCAGGACTGTGATAGGAGAGGGCCTTGCCTGTGTTATTTCCACTGCAGAGCAGGTGCCTCAGGGCATTGCATGACCCATGACTACCACCCCCAGGATGTGCACTTTCTCCCTCGCACCAGACACTGCACGTCACACACATGCCTTTGCACACTCACCCTCCTCCACGCTTACAGCCACACACACAGTCACACAGACGCGTTCTGAGGGTGGCTGCCCGCTTGGGATGGAGGAATCACTTCCCTCAGAACCCAGCCAAGTCCTCTAGGCCTCCTTGGGGGTCCTTCCAGCCTGAGGGGCTTCGGAGCTGAGGAGCAGCTGTTCTGGTAAGTGTCCCTGAGTGTGGGGATGACACATTTGCCATTCACTCTGAATCACAACAGAAAAGGAAGAGGAAGTGAGGTAGGGAGGCTATTTAAGCCTTGGGAGTCGGAAGTAGGGAGGTTGAAACTGTGACATGGGTGACCAGGGAGTTGGGAAGGGACCCTTGGAGGTGGCTGTGGCAGGACAGGATGTTCCTCCCGAGGGGCTCATGTGCCCTGGGCTCTCCCCATCTCTCAGATGCACGGGAACAAGCAGCACCTGCAGAAGGACTTCTTCCTGTACAACGCCTCCAAGGCCAGGAGCAAAACCTACATCAACATGCGGGAGGTGTCCCAGCGCTTCCGCCTGCCTCCCAGCGAGTACGTCATCGTGCCCTCCACCTACGAGCCCCACCAGGAGGGGGAATTCATCCTCCGGGTCTTCTCTGAAAAGAGGAACCTCTCTGAGTGAGTGCTGGCCCAGCTTTCCCACGTGTTTCTAAAAGCTCACATGGCCCACTCCAGAGGTTGAAGGCATGAGGCAGCTAGACACGTCTCCTCCAGGGTCCTTCTGCTGCTCCTGAGCCACTGGCCACATTACCCCCATTCATTCATTCATCCATTCTGTGATATTTATTGAGCACCTACTATGTTCCAGGCACTGTCCTAGGCACTAAGGATAGAGTAGTGAAGTAAACAGAAAGAAATCCCTGCCTTCATGGAGCTTAATATTCTAACATGAGACAATAATGGATAGGAAAAACATATGTAGCATGTTAGATTTGGAGAGGTGATATGGAGCAAAAATAAAGTAGGGAAGAGGGATAGGAGGTGTTGGGGATGCTTGAAATTTTAGGTTAGCATGGCCAGGAAAGCCACATCCTGTCCCTGGCCACCACAGATGAGCTCATAGCCCCTGCCACTCTGATCTCTGTCCTTGGAAGATGCACCAGGTCCATGGGTAGGTGGCTGGGTCATGCCTTTGGGGGGCTCTGAGCAATACTAACAAGAACCTGCGTGCCTGGGCTTGGCTGTCGGGGATGGTGCTGACATGGGGCTGGTTCCTGGGGTTGGGGTGTTCCAGGGGTTCTCTAGAGGCTGGTTCTGGCTTGGCTGCCAGGAAGCCGTGCACCAGAGCAAACCGTCCACGGGCCTCCTGCTTGCTTCTGGTGACACTGAGACCCCACATGTCTGTATTCCTCACAGGGAAGTTGAAAATACCATCTCCGTGGATCGGCCAGTGGTGAGTGGTTTAGATCTTCTGTGCGAAAAGTCCAGAGGGTCCCCTTCCCTGACCATGCAGGGGACAGATGGTGCAGGGGAGAATGGGCACTGGCAGAGGGAATGGGAGTCTGGGCTGTGCTGAGCAGTCCCTCCTTGGCACTGCAAATCCTACTTTGGCATGGCCAGAAGTAATCGGCCTTAAGCACCGGGGGCCATTGAGGCAGTTCAGGGGCTGGGAAATATGGAAGAGGGTCCTGGAAAGGAGAAGCAATTTGAACAATCGGAGGGAACAAGGCCACAGGAAGGGATGACAAGAGCCGCAGCGAACACTGGATTCTGAGACTGGATAACATTGGATTTCACACATAGAGAAAAGAAAGTAAGCTGGTGCCGGACCTGGTGTTGACACTTGGATCCTCCACTTACCAGCGGGGTGACCTGGACAATTTCTGTAATCCCTCTCACTCAGTTTCCTACTCAGTAAAACGGGGATGATAATGTGCCTTGCAAGGCTTTTGTGAGGCTTCATCAATGAGGTGATGTATGTGAAGTGTCTGGCACAGCATGGGCACTCAAACAGAGGTGCTTTTTCACACTTTACACCTTACAAGGTACTTTTCACATGTGTCATCGCGATACTTGCAAGGTTGCTGAGAGGTAGATGGGGTTATAATCCCTGGTGTTCAAGAAAGGAAGCAGAGGCTCAATGGGGTTGAATGACTTCTCTGAGTTCACAGAGCTCAGTAAGTGGCAGGGTTGGAACTCACATTCAGACTCTCTGACTCCAGACTTAGGTTTTTCCGCACCTCCACGCTGAGGCCAGCCCCAGGCAGTGAGAAGCCCAAAGTCCGAAGCACAGAGTGCTGTGTGTTGGGCTCTGTGTGTTGAGGAGTCTTGTGACTGCCTTGGGGCTTTGGGCTGTAGTCAGCTGACAGTCCTTTGTGCTCTGTGGGGATGACGTAGGCCAATGGGAGGACAAATGCCCCTCTGAACTGTCTTCTGGGCAGTGACAGTCATGGTCATAATCCTGACCCTGAGCCAGTGCCAGGTCTCCAAGTGCCTTCTGAATGACCACAGGCGATTGGTTTTAGTGGTAGGTGTGTGGGGATCTGTTCTGGTCATCTGGATGCTGGTCATCGGTGTGCAGTATTGATCAGGACCTGCAAACCCAAAAGCTTATGGGAGCTGGCACGTCACGTGAGTAGAGCAGGCAGGTGCAGGGGTTTTGATGTCCCTGCACTGACACAGTTGTCTGCAGTT
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GTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCATCATGCGCGTGTAGGGGGCAGTTAAAAAGCAGAAGTAAGAAAGATTGCCTAGGGAGGCAGGAAGGGTGAGGTGAGAGGAGAAGAGGCCCAGGACCAGATTCTAGTCACCAACAGCGTTTAAGGGGCAGGTAAGGAAAACAAAACCATCAGCAAAGACTGAGAATGAAAGCCCAGAGAGGAAGGAAAAGCCACACATACAATCAGTACAGCTCCATCTGAATAAAGGTAGCGCCCCCCCCCCCCCCAAATCATTAGAGAAATGCCTGAATCGTGTTTTCTGTTGATATTTCCTAAGCACCTAGATGTAGGGAATAGAAATAAATGGCTCCCTCTGTCTCATCCCCTTCCTGCCCTCTGAGAGGCAGCTGTGAATGCGTGCTTCCTTTCTGGGGGTGCAGATACTTTCTGGACCAACCCTCAGTACCGTCTGAAGCTCCTGGAGGAGGACGATGACCCTGATGACTCGGAGGTGATTTGCAGCTTCCTGGTGGCCCTGATGCAGAAGAACCGGCGGAAGGACCGGAAGCTAGGGGCCAGTCTCTTCACCATTGGCTTCGCCATCTACGAGGTGTGCAGTCCTGATTGGCTCCAGCCCAGGAAACATACTTTCCCAGGGAGGACGCTTCCAGGGGCTTCTAGAGGGGCCCTCTGGCTTCCTCAATACCCAGTGACCCACAGAGCTCCTGGTATCAGGACCACTTGTGTTTGTAACAAGCAAAAAATACCAGGGGGGGCATTAGAGAGGCAGTGGAGCGGGCCTGGCAGAACAGGTGCCTGGGGGTCAGGCTTCCGCATGCGGGCTGCAGTTGCTGGCATTGCCTTCCGCAGGCTCCTCATCCTCATTCACATCTGAAGCATCTTCCTTTCTGTTTCTTCTCAAGGTTCCCAAAGAGGTATAGCAGCAGCAGCGGCCAGCAGTTGTGTGCAGCACTACCCAGGGGGCCCCGAGTCTGTCTGTGGCTCGTCGAGAAGCTTCCTGGTGGGGTTTGTGGGCAGGACTGTGATAGGAGAGGGCCTTGCCTGTGTTATTTCCACTGCAGAGCAGGTGCCTCAGGGCATTGCATGACCCATGACTACCACCCCCAGGATGTGCACTTTCTCCCTCGCACCAGACACTGCACGTCACACACATGCCTTTGCACACTCACCCTCCTCCACGCTTACAGCCACACACACAGTCACACAGACGCGTTCTGAGGGTGGCTGCCCGCTTGGGATGGAGGAATCACTTCCCTCAGAACCCAGCCAAGTCCTCTAGGCCTCCTTGGGGGTCCTTCCAGCCTGAGGGGCTTCGGAGCTGAGGAGCAGCTGTTCTGGTAAGTGTCCCTGAGTGTGGGGATGACACATTTGCCATTCACTCTGAATCACAACAGAAAAGGAAGAGGAAGTGAGGTAGGGAGGCTATTTAAGCCTTGGGAGTCGGAAGTAGGGAGGTTGAAACTGTGACATGGGTGACCAGGGAGTTGGGAAGGGACCCTTGGAGGTGGCTGTGGCAGGACAGGATGTTCCTCCCGAGGGGCTCATGTGCCCTGGGCTCTCCCCATCTCTCAGATGCACGGGAACAAGCAGCACCTGCAGAAGGACTTCTTCCTGTACAACGCCTCCAAGGCCAGGAGCAAAACCTACATCAACATGCGGGAGGTGTCCCAGCGCTTCCGCCTGCCTCCCAGCGAGTACGTCATCGTGCCCTCCACCTACGAGCCCCACCAGGAGGGGGAATTCATCCTCTGGGTCTTCTCTGAAAAGAGGAACCTCTCTGAGTGAGTGCTGGCCCAGCTTTCCCACGTGTTTCTAAAAGCTCACATGGCCCACTCCAGAGGTTGAAGGCATGAGGCAGCTAGACACGTCTCCTCCAGGGTCCTTCTGCTGCTCCTGAGCCACTGGCCACATTACCCCCATTCATTCATTCATCCATTCTGTGATATTTATTGAGCACCTACTATGTTCCAGGCACTGTCCTAGGCACTAAGGATAGAGTAGTGAAGTAAACAGAAAGAAATCCCTGCCTTCATGGAGCTTAATATTCTAACATGAGACAATAATGGATAGGAAAAACATATGTAGCATGTTAGATTTGGAGAGGTGATATGGAGCAAAAATAAAGTAGGGAAGAGGGATAGGAGGTGTTGGGGATGCTTGAAATTTTAGGTTAGCATGGCCAGGAAAGCCACATCCTGTCCCTGGCCACCACAGATGAGCTCATAGCCCCTGCCACTCTGATCTCTGTCCTTGGAAGATGCACCAGGTCCATGGGTAGGTGGCTGGGTCATGCCTTTGGGGGGCTCTGAGCAATACTAACAAGAACCTGCGTGCCTGGGCTTGGCTGTCGGGGATGGTGCTGACATGGGGCTGGTTCCTGGGGTTGGGGTGTTCCAGGGGTTCTCTAGAGGCTGGTTCTGGCTTGGCTGCCAGGAAGCCGTGCACCAGAGCAAACCGTCCACGGGCCTCCTGCTTGCTTCTGGTGACACTGAGACCCCACATGTCTGTATTCCTCACAGGGAAGTTGAAAATACCATCTCCGTGGATCGGCCAGTGGTGAGTGGTTTAGATCTTCTGTGCGAAAAGTCCAGAGGGTCCCCTTCCCTGACCATGCAGGGGACAGATGGTGCAGGGGAGAATGGGCACTGGCAGAGGGAATGGGAGTCTGGGCTGTGCTGAGCAGTCCCTCCTTGGCACTGCAAATCCTACTTTGGCATGGCCAGAAGTAATCGGCCTTAAGCACCGGGGGCCATTGAGGCAGTTCAGGGGCTGGGAAATATGGAAGAGGGTCCTGGAAAGGAGAAGCAATTTGAACAATCGGAGGGAACAAGGCCACAGGAAGGGATGACAAGAGCCGCAGCGAACACTGGATTCTGAGACTGGATAACATTGGATTTCACACATAGAGAAAAGAAAGTAAGCTGGTGCCGGACCTGGTGTTGACACTTGGATCCTCCACTTACCAGCGGGGTGACCTGGACAATTTCTGTAATCCCTCTCACTCAGTTTCCTACTCAGTAAAACGGGGATGATAATGTGCCTTGCAAGGCTTTTGTGAGGCTTCATCAATGAGGTGATGTATGTGAAGTGTCTGGCACAGCATGGGCACTCAAACAGAGGTGCTTTTTCACACTTTACACCTTACAAGGTACTTTTCACATGTGTCATCGCGATACTTGCAAGGTTGCTGAGAGGTAGATGGGGTTATAATCCCTGGTGTTCAAGAAAGGAAGCAGAGGCTCAATGGGGTTGAATGACTTCTCTGAGTTCACAGAGCTCAGTAAGTGGCAGGGTTGGAACTCACATTCAGACTCTCTGACTCCAGACTTAGGTTTTTCCGCACCTCCACGCTGAGGCCAGCCCCAGGCAGTGAGAAGCCCAAAGTCCGAAGCACAGAGTGCTGTGTGTTGGGCTCTGTGTGTTGAGGAGTCTTGTGACTGCCTTGGGGCTTTGGGCTGTAGTCAGCTGACAGTCCTTTGTGCTCTGTGGGGATGACGTAGGCCAATGGGAGGACAAATGCCCCTCTGAACTGTCTTCTGGGCAGTGACAGTCATGGTCATAATCCTGACCCTGAGCCAGTGCCAGGTCTCCAAGTGCCTTCTGAATGACCACAGGCGATTGGTTTTAGTGGTAGGTGTGTGGGGATCTGTTCTGGTCATCTGGATGCTGGTCATCGGTGTGCAGTATTGATCAGGACCTGCAAACCCAAAAGCTTATGGGAGCTGGCACGTCACGTGAGTAGAGCAGGCAGGTGCAGGGGTTTTGATGTCCCTGCACTGACACAGTTGTCTGCAGTT
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Task1_train_20587
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The gene CAPN3 (calpain 3) on Chromosome 15 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2A
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GTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCATCATGCGCGTGTAGGGGGCAGTTAAAAAGCAGAAGTAAGAAAGATTGCCTAGGGAGGCAGGAAGGGTGAGGTGAGAGGAGAAGAGGCCCAGGACCAGATTCTAGTCACCAACAGCGTTTAAGGGGCAGGTAAGGAAAACAAAACCATCAGCAAAGACTGAGAATGAAAGCCCAGAGAGGAAGGAAAAGCCACACATACAATCAGTACAGCTCCATCTGAATAAAGGTAGCGCCCCCCCCCCCCCCAAATCATTAGAGAAATGCCTGAATCGTGTTTTCTGTTGATATTTCCTAAGCACCTAGATGTAGGGAATAGAAATAAATGGCTCCCTCTGTCTCATCCCCTTCCTGCCCTCTGAGAGGCAGCTGTGAATGCGTGCTTCCTTTCTGGGGGTGCAGATACTTTCTGGACCAACCCTCAGTACCGTCTGAAGCTCCTGGAGGAGGACGATGACCCTGATGACTCGGAGGTGATTTGCAGCTTCCTGGTGGCCCTGATGCAGAAGAACCGGCGGAAGGACCGGAAGCTAGGGGCCAGTCTCTTCACCATTGGCTTCGCCATCTACGAGGTGTGCAGTCCTGATTGGCTCCAGCCCAGGAAACATACTTTCCCAGGGAGGACGCTTCCAGGGGCTTCTAGAGGGGCCCTCTGGCTTCCTCAATACCCAGTGACCCACAGAGCTCCTGGTATCAGGACCACTTGTGTTTGTAACAAGCAAAAAATACCAGGGGGGGCATTAGAGAGGCAGTGGAGCGGGCCTGGCAGAACAGGTGCCTGGGGGTCAGGCTTCCGCATGCGGGCTGCAGTTGCTGGCATTGCCTTCCGCAGGCTCCTCATCCTCATTCACATCTGAAGCATCTTCCTTTCTGTTTCTTCTCAAGGTTCCCAAAGAGGTATAGCAGCAGCAGCGGCCAGCAGTTGTGTGCAGCACTACCCAGGGGGCCCCGAGTCTGTCTGTGGCTCGTCGAGAAGCTTCCTGGTGGGGTTTGTGGGCAGGACTGTGATAGGAGAGGGCCTTGCCTGTGTTATTTCCACTGCAGAGCAGGTGCCTCAGGGCATTGCATGACCCATGACTACCACCCCCAGGATGTGCACTTTCTCCCTCGCACCAGACACTGCACGTCACACACATGCCTTTGCACACTCACCCTCCTCCACGCTTACAGCCACACACACAGTCACACAGACGCGTTCTGAGGGTGGCTGCCCGCTTGGGATGGAGGAATCACTTCCCTCAGAACCCAGCCAAGTCCTCTAGGCCTCCTTGGGGGTCCTTCCAGCCTGAGGGGCTTCGGAGCTGAGGAGCAGCTGTTCTGGTAAGTGTCCCTGAGTGTGGGGATGACACATTTGCCATTCACTCTGAATCACAACAGAAAAGGAAGAGGAAGTGAGGTAGGGAGGCTATTTAAGCCTTGGGAGTCGGAAGTAGGGAGGTTGAAACTGTGACATGGGTGACCAGGGAGTTGGGAAGGGACCCTTGGAGGTGGCTGTGGCAGGACAGGATGTTCCTCCCGAGGGGCTCATGTGCCCTGGGCTCTCCCCATCTCTCAGATGCACGGGAACAAGCAGCACCTGCAGAAGGACTTCTTCCTGTACAACGCCTCCAAGGCCAGGAGCAAAACCTACATCAACATGCGGGAGGTGTCCCAGCGCTTCCGCCTGCCTCCCAGCGAGTACGTCATCGTGCCCTCCACCTACGAGCCCCACCAGGAGGGGGAATTCATCCTCCGGGTCTTCTCTGAAAAGAGGAACCTCTCTGAGTGAGTGCTGGCCCAGCTTTCCCACGTGTTTCTAAAAGCTCACATGGCCCACTCCAGAGGTTGAAGGCATGAGGCAGCTAGACACGTCTCCTCCAGGGTCCTTCTGCTGCTCCTGAGCCACTGGCCACATTACCCCCATTCATTCATTCATCCATTCTGTGATATTTATTGAGCACCTACTATGTTCCAGGCACTGTCCTAGGCACTAAGGATAGAGTAGTGAAGTAAACAGAAAGAAATCCCTGCCTTCATGGAGCTTAATATTCTAACATGAGACAATAATGGATAGGAAAAACATATGTAGCATGTTAGATTTGGAGAGGTGATATGGAGCAAAAATAAAGTAGGGAAGAGGGATAGGAGGTGTTGGGGATGCTTGAAATTTTAGGTTAGCATGGCCAGGAAAGCCACATCCTGTCCCTGGCCACCACAGATGAGCTCATAGCCCCTGCCACTCTGATCTCTGTCCTTGGAAGATGCACCAGGTCCATGGGTAGGTGGCTGGGTCATGCCTTTGGGGGGCTCTGAGCAATACTAACAAGAACCTGCGTGCCTGGGCTTGGCTGTCGGGGATGGTGCTGACATGGGGCTGGTTCCTGGGGTTGGGGTGTTCCAGGGGTTCTCTAGAGGCTGGTTCTGGCTTGGCTGCCAGGAAGCCGTGCACCAGAGCAAACCGTCCACGGGCCTCCTGCTTGCTTCTGGTGACACTGAGACCCCACATGTCTGTATTCCTCACAGGGAAGTTGAAAATACCATCTCCGTGGATCGGCCAGTGGTGAGTGGTTTAGATCTTCTGTGCGAAAAGTCCAGAGGGTCCCCTTCCCTGACCATGCAGGGGACAGATGGTGCAGGGGAGAATGGGCACTGGCAGAGGGAATGGGAGTCTGGGCTGTGCTGAGCAGTCCCTCCTTGGCACTGCAAATCCTACTTTGGCATGGCCAGAAGTAATCGGCCTTAAGCACCGGGGGCCATTGAGGCAGTTCAGGGGCTGGGAAATATGGAAGAGGGTCCTGGAAAGGAGAAGCAATTTGAACAATCGGAGGGAACAAGGCCACAGGAAGGGATGACAAGAGCCGCAGCGAACACTGGATTCTGAGACTGGATAACATTGGATTTCACACATAGAGAAAAGAAAGTAAGCTGGTGCCGGACCTGGTGTTGACACTTGGATCCTCCACTTACCAGCGGGGTGACCTGGACAATTTCTGTAATCCCTCTCACTCAGTTTCCTACTCAGTAAAACGGGGATGATAATGTGCCTTGCAAGGCTTTTGTGAGGCTTCATCAATGAGGTGATGTATGTGAAGTGTCTGGCACAGCATGGGCACTCAAACAGAGGTGCTTTTTCACACTTTACACCTTACAAGGTACTTTTCACATGTGTCATCGCGATACTTGCAAGGTTGCTGAGAGGTAGATGGGGTTATAATCCCTGGTGTTCAAGAAAGGAAGCAGAGGCTCAATGGGGTTGAATGACTTCTCTGAGTTCACAGAGCTCAGTAAGTGGCAGGGTTGGAACTCACATTCAGACTCTCTGACTCCAGACTTAGGTTTTTCCGCACCTCCACGCTGAGGCCAGCCCCAGGCAGTGAGAAGCCCAAAGTCCGAAGCACAGAGTGCTGTGTGTTGGGCTCTGTGTGTTGAGGAGTCTTGTGACTGCCTTGGGGCTTTGGGCTGTAGTCAGCTGACAGTCCTTTGTGCTCTGTGGGGATGACGTAGGCCAATGGGAGGACAAATGCCCCTCTGAACTGTCTTCTGGGCAGTGACAGTCATGGTCATAATCCTGACCCTGAGCCAGTGCCAGGTCTCCAAGTGCCTTCTGAATGACCACAGGCGATTGGTTTTAGTGGTAGGTGTGTGGGGATCTGTTCTGGTCATCTGGATGCTGGTCATCGGTGTGCAGTATTGATCAGGACCTGCAAACCCAAAAGCTTATGGGAGCTGGCACGTCACGTGAGTAGAGCAGGCAGGTGCAGGGGTTTTGATGTCCCTGCACTGACACAGTTGTCTGCAGTT
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GTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCATCATGCGCGTGTAGGGGGCAGTTAAAAAGCAGAAGTAAGAAAGATTGCCTAGGGAGGCAGGAAGGGTGAGGTGAGAGGAGAAGAGGCCCAGGACCAGATTCTAGTCACCAACAGCGTTTAAGGGGCAGGTAAGGAAAACAAAACCATCAGCAAAGACTGAGAATGAAAGCCCAGAGAGGAAGGAAAAGCCACACATACAATCAGTACAGCTCCATCTGAATAAAGGTAGCGCCCCCCCCCCCCCCAAATCATTAGAGAAATGCCTGAATCGTGTTTTCTGTTGATATTTCCTAAGCACCTAGATGTAGGGAATAGAAATAAATGGCTCCCTCTGTCTCATCCCCTTCCTGCCCTCTGAGAGGCAGCTGTGAATGCGTGCTTCCTTTCTGGGGGTGCAGATACTTTCTGGACCAACCCTCAGTACCGTCTGAAGCTCCTGGAGGAGGACGATGACCCTGATGACTCGGAGGTGATTTGCAGCTTCCTGGTGGCCCTGATGCAGAAGAACCGGCGGAAGGACCGGAAGCTAGGGGCCAGTCTCTTCACCATTGGCTTCGCCATCTACGAGGTGTGCAGTCCTGATTGGCTCCAGCCCAGGAAACATACTTTCCCAGGGAGGACGCTTCCAGGGGCTTCTAGAGGGGCCCTCTGGCTTCCTCAATACCCAGTGACCCACAGAGCTCCTGGTATCAGGACCACTTGTGTTTGTAACAAGCAAAAAATACCAGGGGGGGCATTAGAGAGGCAGTGGAGCGGGCCTGGCAGAACAGGTGCCTGGGGGTCAGGCTTCCGCATGCGGGCTGCAGTTGCTGGCATTGCCTTCCGCAGGCTCCTCATCCTCATTCACATCTGAAGCATCTTCCTTTCTGTTTCTTCTCAAGGTTCCCAAAGAGGTATAGCAGCAGCAGCGGCCAGCAGTTGTGTGCAGCACTACCCAGGGGGCCCCGAGTCTGTCTGTGGCTCGTCGAGAAGCTTCCTGGTGGGGTTTGTGGGCAGGACTGTGATAGGAGAGGGCCTTGCCTGTGTTATTTCCACTGCAGAGCAGGTGCCTCAGGGCATTGCATGACCCATGACTACCACCCCCAGGATGTGCACTTTCTCCCTCGCACCAGACACTGCACGTCACACACATGCCTTTGCACACTCACCCTCCTCCACGCTTACAGCCACACACACAGTCACACAGACGCGTTCTGAGGGTGGCTGCCCGCTTGGGATGGAGGAATCACTTCCCTCAGAACCCAGCCAAGTCCTCTAGGCCTCCTTGGGGGTCCTTCCAGCCTGAGGGGCTTCGGAGCTGAGGAGCAGCTGTTCTGGTAAGTGTCCCTGAGTGTGGGGATGACACATTTGCCATTCACTCTGAATCACAACAGAAAAGGAAGAGGAAGTGAGGTAGGGAGGCTATTTAAGCCTTGGGAGTCGGAAGTAGGGAGGTTGAAACTGTGACATGGGTGACCAGGGAGTTGGGAAGGGACCCTTGGAGGTGGCTGTGGCAGGACAGGATGTTCCTCCCGAGGGGCTCATGTGCCCTGGGCTCTCCCCATCTCTCAGATGCACGGGAACAAGCAGCACCTGCAGAAGGACTTCTTCCTGTACAACGCCTCCAAGGCCAGGAGCAAAACCTACATCAACATGCGGGAGGTGTCCCAGCGCTTCCGCCTGCCTCCCAGCGAGTACGTCATCGTGCCCTCCACCTACGAGCCCCACCAGGAGGGGGAATTCATCCTCTGGGTCTTCTCTGAAAAGAGGAACCTCTCTGAGTGAGTGCTGGCCCAGCTTTCCCACGTGTTTCTAAAAGCTCACATGGCCCACTCCAGAGGTTGAAGGCATGAGGCAGCTAGACACGTCTCCTCCAGGGTCCTTCTGCTGCTCCTGAGCCACTGGCCACATTACCCCCATTCATTCATTCATCCATTCTGTGATATTTATTGAGCACCTACTATGTTCCAGGCACTGTCCTAGGCACTAAGGATAGAGTAGTGAAGTAAACAGAAAGAAATCCCTGCCTTCATGGAGCTTAATATTCTAACATGAGACAATAATGGATAGGAAAAACATATGTAGCATGTTAGATTTGGAGAGGTGATATGGAGCAAAAATAAAGTAGGGAAGAGGGATAGGAGGTGTTGGGGATGCTTGAAATTTTAGGTTAGCATGGCCAGGAAAGCCACATCCTGTCCCTGGCCACCACAGATGAGCTCATAGCCCCTGCCACTCTGATCTCTGTCCTTGGAAGATGCACCAGGTCCATGGGTAGGTGGCTGGGTCATGCCTTTGGGGGGCTCTGAGCAATACTAACAAGAACCTGCGTGCCTGGGCTTGGCTGTCGGGGATGGTGCTGACATGGGGCTGGTTCCTGGGGTTGGGGTGTTCCAGGGGTTCTCTAGAGGCTGGTTCTGGCTTGGCTGCCAGGAAGCCGTGCACCAGAGCAAACCGTCCACGGGCCTCCTGCTTGCTTCTGGTGACACTGAGACCCCACATGTCTGTATTCCTCACAGGGAAGTTGAAAATACCATCTCCGTGGATCGGCCAGTGGTGAGTGGTTTAGATCTTCTGTGCGAAAAGTCCAGAGGGTCCCCTTCCCTGACCATGCAGGGGACAGATGGTGCAGGGGAGAATGGGCACTGGCAGAGGGAATGGGAGTCTGGGCTGTGCTGAGCAGTCCCTCCTTGGCACTGCAAATCCTACTTTGGCATGGCCAGAAGTAATCGGCCTTAAGCACCGGGGGCCATTGAGGCAGTTCAGGGGCTGGGAAATATGGAAGAGGGTCCTGGAAAGGAGAAGCAATTTGAACAATCGGAGGGAACAAGGCCACAGGAAGGGATGACAAGAGCCGCAGCGAACACTGGATTCTGAGACTGGATAACATTGGATTTCACACATAGAGAAAAGAAAGTAAGCTGGTGCCGGACCTGGTGTTGACACTTGGATCCTCCACTTACCAGCGGGGTGACCTGGACAATTTCTGTAATCCCTCTCACTCAGTTTCCTACTCAGTAAAACGGGGATGATAATGTGCCTTGCAAGGCTTTTGTGAGGCTTCATCAATGAGGTGATGTATGTGAAGTGTCTGGCACAGCATGGGCACTCAAACAGAGGTGCTTTTTCACACTTTACACCTTACAAGGTACTTTTCACATGTGTCATCGCGATACTTGCAAGGTTGCTGAGAGGTAGATGGGGTTATAATCCCTGGTGTTCAAGAAAGGAAGCAGAGGCTCAATGGGGTTGAATGACTTCTCTGAGTTCACAGAGCTCAGTAAGTGGCAGGGTTGGAACTCACATTCAGACTCTCTGACTCCAGACTTAGGTTTTTCCGCACCTCCACGCTGAGGCCAGCCCCAGGCAGTGAGAAGCCCAAAGTCCGAAGCACAGAGTGCTGTGTGTTGGGCTCTGTGTGTTGAGGAGTCTTGTGACTGCCTTGGGGCTTTGGGCTGTAGTCAGCTGACAGTCCTTTGTGCTCTGTGGGGATGACGTAGGCCAATGGGAGGACAAATGCCCCTCTGAACTGTCTTCTGGGCAGTGACAGTCATGGTCATAATCCTGACCCTGAGCCAGTGCCAGGTCTCCAAGTGCCTTCTGAATGACCACAGGCGATTGGTTTTAGTGGTAGGTGTGTGGGGATCTGTTCTGGTCATCTGGATGCTGGTCATCGGTGTGCAGTATTGATCAGGACCTGCAAACCCAAAAGCTTATGGGAGCTGGCACGTCACGTGAGTAGAGCAGGCAGGTGCAGGGGTTTTGATGTCCCTGCACTGACACAGTTGTCTGCAGTT
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Task1_train_20588
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A mutation in CAPN3 (calpain 3), located on Chromosome 15, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Muscular dystrophy, limb-girdle, autosomal dominant 4
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GTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCATCATGCGCGTGTAGGGGGCAGTTAAAAAGCAGAAGTAAGAAAGATTGCCTAGGGAGGCAGGAAGGGTGAGGTGAGAGGAGAAGAGGCCCAGGACCAGATTCTAGTCACCAACAGCGTTTAAGGGGCAGGTAAGGAAAACAAAACCATCAGCAAAGACTGAGAATGAAAGCCCAGAGAGGAAGGAAAAGCCACACATACAATCAGTACAGCTCCATCTGAATAAAGGTAGCGCCCCCCCCCCCCCCAAATCATTAGAGAAATGCCTGAATCGTGTTTTCTGTTGATATTTCCTAAGCACCTAGATGTAGGGAATAGAAATAAATGGCTCCCTCTGTCTCATCCCCTTCCTGCCCTCTGAGAGGCAGCTGTGAATGCGTGCTTCCTTTCTGGGGGTGCAGATACTTTCTGGACCAACCCTCAGTACCGTCTGAAGCTCCTGGAGGAGGACGATGACCCTGATGACTCGGAGGTGATTTGCAGCTTCCTGGTGGCCCTGATGCAGAAGAACCGGCGGAAGGACCGGAAGCTAGGGGCCAGTCTCTTCACCATTGGCTTCGCCATCTACGAGGTGTGCAGTCCTGATTGGCTCCAGCCCAGGAAACATACTTTCCCAGGGAGGACGCTTCCAGGGGCTTCTAGAGGGGCCCTCTGGCTTCCTCAATACCCAGTGACCCACAGAGCTCCTGGTATCAGGACCACTTGTGTTTGTAACAAGCAAAAAATACCAGGGGGGGCATTAGAGAGGCAGTGGAGCGGGCCTGGCAGAACAGGTGCCTGGGGGTCAGGCTTCCGCATGCGGGCTGCAGTTGCTGGCATTGCCTTCCGCAGGCTCCTCATCCTCATTCACATCTGAAGCATCTTCCTTTCTGTTTCTTCTCAAGGTTCCCAAAGAGGTATAGCAGCAGCAGCGGCCAGCAGTTGTGTGCAGCACTACCCAGGGGGCCCCGAGTCTGTCTGTGGCTCGTCGAGAAGCTTCCTGGTGGGGTTTGTGGGCAGGACTGTGATAGGAGAGGGCCTTGCCTGTGTTATTTCCACTGCAGAGCAGGTGCCTCAGGGCATTGCATGACCCATGACTACCACCCCCAGGATGTGCACTTTCTCCCTCGCACCAGACACTGCACGTCACACACATGCCTTTGCACACTCACCCTCCTCCACGCTTACAGCCACACACACAGTCACACAGACGCGTTCTGAGGGTGGCTGCCCGCTTGGGATGGAGGAATCACTTCCCTCAGAACCCAGCCAAGTCCTCTAGGCCTCCTTGGGGGTCCTTCCAGCCTGAGGGGCTTCGGAGCTGAGGAGCAGCTGTTCTGGTAAGTGTCCCTGAGTGTGGGGATGACACATTTGCCATTCACTCTGAATCACAACAGAAAAGGAAGAGGAAGTGAGGTAGGGAGGCTATTTAAGCCTTGGGAGTCGGAAGTAGGGAGGTTGAAACTGTGACATGGGTGACCAGGGAGTTGGGAAGGGACCCTTGGAGGTGGCTGTGGCAGGACAGGATGTTCCTCCCGAGGGGCTCATGTGCCCTGGGCTCTCCCCATCTCTCAGATGCACGGGAACAAGCAGCACCTGCAGAAGGACTTCTTCCTGTACAACGCCTCCAAGGCCAGGAGCAAAACCTACATCAACATGCGGGAGGTGTCCCAGCGCTTCCGCCTGCCTCCCAGCGAGTACGTCATCGTGCCCTCCACCTACGAGCCCCACCAGGAGGGGGAATTCATCCTCCGGGTCTTCTCTGAAAAGAGGAACCTCTCTGAGTGAGTGCTGGCCCAGCTTTCCCACGTGTTTCTAAAAGCTCACATGGCCCACTCCAGAGGTTGAAGGCATGAGGCAGCTAGACACGTCTCCTCCAGGGTCCTTCTGCTGCTCCTGAGCCACTGGCCACATTACCCCCATTCATTCATTCATCCATTCTGTGATATTTATTGAGCACCTACTATGTTCCAGGCACTGTCCTAGGCACTAAGGATAGAGTAGTGAAGTAAACAGAAAGAAATCCCTGCCTTCATGGAGCTTAATATTCTAACATGAGACAATAATGGATAGGAAAAACATATGTAGCATGTTAGATTTGGAGAGGTGATATGGAGCAAAAATAAAGTAGGGAAGAGGGATAGGAGGTGTTGGGGATGCTTGAAATTTTAGGTTAGCATGGCCAGGAAAGCCACATCCTGTCCCTGGCCACCACAGATGAGCTCATAGCCCCTGCCACTCTGATCTCTGTCCTTGGAAGATGCACCAGGTCCATGGGTAGGTGGCTGGGTCATGCCTTTGGGGGGCTCTGAGCAATACTAACAAGAACCTGCGTGCCTGGGCTTGGCTGTCGGGGATGGTGCTGACATGGGGCTGGTTCCTGGGGTTGGGGTGTTCCAGGGGTTCTCTAGAGGCTGGTTCTGGCTTGGCTGCCAGGAAGCCGTGCACCAGAGCAAACCGTCCACGGGCCTCCTGCTTGCTTCTGGTGACACTGAGACCCCACATGTCTGTATTCCTCACAGGGAAGTTGAAAATACCATCTCCGTGGATCGGCCAGTGGTGAGTGGTTTAGATCTTCTGTGCGAAAAGTCCAGAGGGTCCCCTTCCCTGACCATGCAGGGGACAGATGGTGCAGGGGAGAATGGGCACTGGCAGAGGGAATGGGAGTCTGGGCTGTGCTGAGCAGTCCCTCCTTGGCACTGCAAATCCTACTTTGGCATGGCCAGAAGTAATCGGCCTTAAGCACCGGGGGCCATTGAGGCAGTTCAGGGGCTGGGAAATATGGAAGAGGGTCCTGGAAAGGAGAAGCAATTTGAACAATCGGAGGGAACAAGGCCACAGGAAGGGATGACAAGAGCCGCAGCGAACACTGGATTCTGAGACTGGATAACATTGGATTTCACACATAGAGAAAAGAAAGTAAGCTGGTGCCGGACCTGGTGTTGACACTTGGATCCTCCACTTACCAGCGGGGTGACCTGGACAATTTCTGTAATCCCTCTCACTCAGTTTCCTACTCAGTAAAACGGGGATGATAATGTGCCTTGCAAGGCTTTTGTGAGGCTTCATCAATGAGGTGATGTATGTGAAGTGTCTGGCACAGCATGGGCACTCAAACAGAGGTGCTTTTTCACACTTTACACCTTACAAGGTACTTTTCACATGTGTCATCGCGATACTTGCAAGGTTGCTGAGAGGTAGATGGGGTTATAATCCCTGGTGTTCAAGAAAGGAAGCAGAGGCTCAATGGGGTTGAATGACTTCTCTGAGTTCACAGAGCTCAGTAAGTGGCAGGGTTGGAACTCACATTCAGACTCTCTGACTCCAGACTTAGGTTTTTCCGCACCTCCACGCTGAGGCCAGCCCCAGGCAGTGAGAAGCCCAAAGTCCGAAGCACAGAGTGCTGTGTGTTGGGCTCTGTGTGTTGAGGAGTCTTGTGACTGCCTTGGGGCTTTGGGCTGTAGTCAGCTGACAGTCCTTTGTGCTCTGTGGGGATGACGTAGGCCAATGGGAGGACAAATGCCCCTCTGAACTGTCTTCTGGGCAGTGACAGTCATGGTCATAATCCTGACCCTGAGCCAGTGCCAGGTCTCCAAGTGCCTTCTGAATGACCACAGGCGATTGGTTTTAGTGGTAGGTGTGTGGGGATCTGTTCTGGTCATCTGGATGCTGGTCATCGGTGTGCAGTATTGATCAGGACCTGCAAACCCAAAAGCTTATGGGAGCTGGCACGTCACGTGAGTAGAGCAGGCAGGTGCAGGGGTTTTGATGTCCCTGCACTGACACAGTTGTCTGCAGTT
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GTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCATCATGCGCGTGTAGGGGGCAGTTAAAAAGCAGAAGTAAGAAAGATTGCCTAGGGAGGCAGGAAGGGTGAGGTGAGAGGAGAAGAGGCCCAGGACCAGATTCTAGTCACCAACAGCGTTTAAGGGGCAGGTAAGGAAAACAAAACCATCAGCAAAGACTGAGAATGAAAGCCCAGAGAGGAAGGAAAAGCCACACATACAATCAGTACAGCTCCATCTGAATAAAGGTAGCGCCCCCCCCCCCCCCAAATCATTAGAGAAATGCCTGAATCGTGTTTTCTGTTGATATTTCCTAAGCACCTAGATGTAGGGAATAGAAATAAATGGCTCCCTCTGTCTCATCCCCTTCCTGCCCTCTGAGAGGCAGCTGTGAATGCGTGCTTCCTTTCTGGGGGTGCAGATACTTTCTGGACCAACCCTCAGTACCGTCTGAAGCTCCTGGAGGAGGACGATGACCCTGATGACTCGGAGGTGATTTGCAGCTTCCTGGTGGCCCTGATGCAGAAGAACCGGCGGAAGGACCGGAAGCTAGGGGCCAGTCTCTTCACCATTGGCTTCGCCATCTACGAGGTGTGCAGTCCTGATTGGCTCCAGCCCAGGAAACATACTTTCCCAGGGAGGACGCTTCCAGGGGCTTCTAGAGGGGCCCTCTGGCTTCCTCAATACCCAGTGACCCACAGAGCTCCTGGTATCAGGACCACTTGTGTTTGTAACAAGCAAAAAATACCAGGGGGGGCATTAGAGAGGCAGTGGAGCGGGCCTGGCAGAACAGGTGCCTGGGGGTCAGGCTTCCGCATGCGGGCTGCAGTTGCTGGCATTGCCTTCCGCAGGCTCCTCATCCTCATTCACATCTGAAGCATCTTCCTTTCTGTTTCTTCTCAAGGTTCCCAAAGAGGTATAGCAGCAGCAGCGGCCAGCAGTTGTGTGCAGCACTACCCAGGGGGCCCCGAGTCTGTCTGTGGCTCGTCGAGAAGCTTCCTGGTGGGGTTTGTGGGCAGGACTGTGATAGGAGAGGGCCTTGCCTGTGTTATTTCCACTGCAGAGCAGGTGCCTCAGGGCATTGCATGACCCATGACTACCACCCCCAGGATGTGCACTTTCTCCCTCGCACCAGACACTGCACGTCACACACATGCCTTTGCACACTCACCCTCCTCCACGCTTACAGCCACACACACAGTCACACAGACGCGTTCTGAGGGTGGCTGCCCGCTTGGGATGGAGGAATCACTTCCCTCAGAACCCAGCCAAGTCCTCTAGGCCTCCTTGGGGGTCCTTCCAGCCTGAGGGGCTTCGGAGCTGAGGAGCAGCTGTTCTGGTAAGTGTCCCTGAGTGTGGGGATGACACATTTGCCATTCACTCTGAATCACAACAGAAAAGGAAGAGGAAGTGAGGTAGGGAGGCTATTTAAGCCTTGGGAGTCGGAAGTAGGGAGGTTGAAACTGTGACATGGGTGACCAGGGAGTTGGGAAGGGACCCTTGGAGGTGGCTGTGGCAGGACAGGATGTTCCTCCCGAGGGGCTCATGTGCCCTGGGCTCTCCCCATCTCTCAGATGCACGGGAACAAGCAGCACCTGCAGAAGGACTTCTTCCTGTACAACGCCTCCAAGGCCAGGAGCAAAACCTACATCAACATGCGGGAGGTGTCCCAGCGCTTCCGCCTGCCTCCCAGCGAGTACGTCATCGTGCCCTCCACCTACGAGCCCCACCAGGAGGGGGAATTCATCCTCTGGGTCTTCTCTGAAAAGAGGAACCTCTCTGAGTGAGTGCTGGCCCAGCTTTCCCACGTGTTTCTAAAAGCTCACATGGCCCACTCCAGAGGTTGAAGGCATGAGGCAGCTAGACACGTCTCCTCCAGGGTCCTTCTGCTGCTCCTGAGCCACTGGCCACATTACCCCCATTCATTCATTCATCCATTCTGTGATATTTATTGAGCACCTACTATGTTCCAGGCACTGTCCTAGGCACTAAGGATAGAGTAGTGAAGTAAACAGAAAGAAATCCCTGCCTTCATGGAGCTTAATATTCTAACATGAGACAATAATGGATAGGAAAAACATATGTAGCATGTTAGATTTGGAGAGGTGATATGGAGCAAAAATAAAGTAGGGAAGAGGGATAGGAGGTGTTGGGGATGCTTGAAATTTTAGGTTAGCATGGCCAGGAAAGCCACATCCTGTCCCTGGCCACCACAGATGAGCTCATAGCCCCTGCCACTCTGATCTCTGTCCTTGGAAGATGCACCAGGTCCATGGGTAGGTGGCTGGGTCATGCCTTTGGGGGGCTCTGAGCAATACTAACAAGAACCTGCGTGCCTGGGCTTGGCTGTCGGGGATGGTGCTGACATGGGGCTGGTTCCTGGGGTTGGGGTGTTCCAGGGGTTCTCTAGAGGCTGGTTCTGGCTTGGCTGCCAGGAAGCCGTGCACCAGAGCAAACCGTCCACGGGCCTCCTGCTTGCTTCTGGTGACACTGAGACCCCACATGTCTGTATTCCTCACAGGGAAGTTGAAAATACCATCTCCGTGGATCGGCCAGTGGTGAGTGGTTTAGATCTTCTGTGCGAAAAGTCCAGAGGGTCCCCTTCCCTGACCATGCAGGGGACAGATGGTGCAGGGGAGAATGGGCACTGGCAGAGGGAATGGGAGTCTGGGCTGTGCTGAGCAGTCCCTCCTTGGCACTGCAAATCCTACTTTGGCATGGCCAGAAGTAATCGGCCTTAAGCACCGGGGGCCATTGAGGCAGTTCAGGGGCTGGGAAATATGGAAGAGGGTCCTGGAAAGGAGAAGCAATTTGAACAATCGGAGGGAACAAGGCCACAGGAAGGGATGACAAGAGCCGCAGCGAACACTGGATTCTGAGACTGGATAACATTGGATTTCACACATAGAGAAAAGAAAGTAAGCTGGTGCCGGACCTGGTGTTGACACTTGGATCCTCCACTTACCAGCGGGGTGACCTGGACAATTTCTGTAATCCCTCTCACTCAGTTTCCTACTCAGTAAAACGGGGATGATAATGTGCCTTGCAAGGCTTTTGTGAGGCTTCATCAATGAGGTGATGTATGTGAAGTGTCTGGCACAGCATGGGCACTCAAACAGAGGTGCTTTTTCACACTTTACACCTTACAAGGTACTTTTCACATGTGTCATCGCGATACTTGCAAGGTTGCTGAGAGGTAGATGGGGTTATAATCCCTGGTGTTCAAGAAAGGAAGCAGAGGCTCAATGGGGTTGAATGACTTCTCTGAGTTCACAGAGCTCAGTAAGTGGCAGGGTTGGAACTCACATTCAGACTCTCTGACTCCAGACTTAGGTTTTTCCGCACCTCCACGCTGAGGCCAGCCCCAGGCAGTGAGAAGCCCAAAGTCCGAAGCACAGAGTGCTGTGTGTTGGGCTCTGTGTGTTGAGGAGTCTTGTGACTGCCTTGGGGCTTTGGGCTGTAGTCAGCTGACAGTCCTTTGTGCTCTGTGGGGATGACGTAGGCCAATGGGAGGACAAATGCCCCTCTGAACTGTCTTCTGGGCAGTGACAGTCATGGTCATAATCCTGACCCTGAGCCAGTGCCAGGTCTCCAAGTGCCTTCTGAATGACCACAGGCGATTGGTTTTAGTGGTAGGTGTGTGGGGATCTGTTCTGGTCATCTGGATGCTGGTCATCGGTGTGCAGTATTGATCAGGACCTGCAAACCCAAAAGCTTATGGGAGCTGGCACGTCACGTGAGTAGAGCAGGCAGGTGCAGGGGTTTTGATGTCCCTGCACTGACACAGTTGTCTGCAGTT
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Task1_train_20589
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Gene CAPN3 (calpain 3), found on Chromosome 15, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2A
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GTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCATCATGCGCGTGTAGGGGGCAGTTAAAAAGCAGAAGTAAGAAAGATTGCCTAGGGAGGCAGGAAGGGTGAGGTGAGAGGAGAAGAGGCCCAGGACCAGATTCTAGTCACCAACAGCGTTTAAGGGGCAGGTAAGGAAAACAAAACCATCAGCAAAGACTGAGAATGAAAGCCCAGAGAGGAAGGAAAAGCCACACATACAATCAGTACAGCTCCATCTGAATAAAGGTAGCGCCCCCCCCCCCCCCAAATCATTAGAGAAATGCCTGAATCGTGTTTTCTGTTGATATTTCCTAAGCACCTAGATGTAGGGAATAGAAATAAATGGCTCCCTCTGTCTCATCCCCTTCCTGCCCTCTGAGAGGCAGCTGTGAATGCGTGCTTCCTTTCTGGGGGTGCAGATACTTTCTGGACCAACCCTCAGTACCGTCTGAAGCTCCTGGAGGAGGACGATGACCCTGATGACTCGGAGGTGATTTGCAGCTTCCTGGTGGCCCTGATGCAGAAGAACCGGCGGAAGGACCGGAAGCTAGGGGCCAGTCTCTTCACCATTGGCTTCGCCATCTACGAGGTGTGCAGTCCTGATTGGCTCCAGCCCAGGAAACATACTTTCCCAGGGAGGACGCTTCCAGGGGCTTCTAGAGGGGCCCTCTGGCTTCCTCAATACCCAGTGACCCACAGAGCTCCTGGTATCAGGACCACTTGTGTTTGTAACAAGCAAAAAATACCAGGGGGGGCATTAGAGAGGCAGTGGAGCGGGCCTGGCAGAACAGGTGCCTGGGGGTCAGGCTTCCGCATGCGGGCTGCAGTTGCTGGCATTGCCTTCCGCAGGCTCCTCATCCTCATTCACATCTGAAGCATCTTCCTTTCTGTTTCTTCTCAAGGTTCCCAAAGAGGTATAGCAGCAGCAGCGGCCAGCAGTTGTGTGCAGCACTACCCAGGGGGCCCCGAGTCTGTCTGTGGCTCGTCGAGAAGCTTCCTGGTGGGGTTTGTGGGCAGGACTGTGATAGGAGAGGGCCTTGCCTGTGTTATTTCCACTGCAGAGCAGGTGCCTCAGGGCATTGCATGACCCATGACTACCACCCCCAGGATGTGCACTTTCTCCCTCGCACCAGACACTGCACGTCACACACATGCCTTTGCACACTCACCCTCCTCCACGCTTACAGCCACACACACAGTCACACAGACGCGTTCTGAGGGTGGCTGCCCGCTTGGGATGGAGGAATCACTTCCCTCAGAACCCAGCCAAGTCCTCTAGGCCTCCTTGGGGGTCCTTCCAGCCTGAGGGGCTTCGGAGCTGAGGAGCAGCTGTTCTGGTAAGTGTCCCTGAGTGTGGGGATGACACATTTGCCATTCACTCTGAATCACAACAGAAAAGGAAGAGGAAGTGAGGTAGGGAGGCTATTTAAGCCTTGGGAGTCGGAAGTAGGGAGGTTGAAACTGTGACATGGGTGACCAGGGAGTTGGGAAGGGACCCTTGGAGGTGGCTGTGGCAGGACAGGATGTTCCTCCCGAGGGGCTCATGTGCCCTGGGCTCTCCCCATCTCTCAGATGCACGGGAACAAGCAGCACCTGCAGAAGGACTTCTTCCTGTACAACGCCTCCAAGGCCAGGAGCAAAACCTACATCAACATGCGGGAGGTGTCCCAGCGCTTCCGCCTGCCTCCCAGCGAGTACGTCATCGTGCCCTCCACCTACGAGCCCCACCAGGAGGGGGAATTCATCCTCCGGGTCTTCTCTGAAAAGAGGAACCTCTCTGAGTGAGTGCTGGCCCAGCTTTCCCACGTGTTTCTAAAAGCTCACATGGCCCACTCCAGAGGTTGAAGGCATGAGGCAGCTAGACACGTCTCCTCCAGGGTCCTTCTGCTGCTCCTGAGCCACTGGCCACATTACCCCCATTCATTCATTCATCCATTCTGTGATATTTATTGAGCACCTACTATGTTCCAGGCACTGTCCTAGGCACTAAGGATAGAGTAGTGAAGTAAACAGAAAGAAATCCCTGCCTTCATGGAGCTTAATATTCTAACATGAGACAATAATGGATAGGAAAAACATATGTAGCATGTTAGATTTGGAGAGGTGATATGGAGCAAAAATAAAGTAGGGAAGAGGGATAGGAGGTGTTGGGGATGCTTGAAATTTTAGGTTAGCATGGCCAGGAAAGCCACATCCTGTCCCTGGCCACCACAGATGAGCTCATAGCCCCTGCCACTCTGATCTCTGTCCTTGGAAGATGCACCAGGTCCATGGGTAGGTGGCTGGGTCATGCCTTTGGGGGGCTCTGAGCAATACTAACAAGAACCTGCGTGCCTGGGCTTGGCTGTCGGGGATGGTGCTGACATGGGGCTGGTTCCTGGGGTTGGGGTGTTCCAGGGGTTCTCTAGAGGCTGGTTCTGGCTTGGCTGCCAGGAAGCCGTGCACCAGAGCAAACCGTCCACGGGCCTCCTGCTTGCTTCTGGTGACACTGAGACCCCACATGTCTGTATTCCTCACAGGGAAGTTGAAAATACCATCTCCGTGGATCGGCCAGTGGTGAGTGGTTTAGATCTTCTGTGCGAAAAGTCCAGAGGGTCCCCTTCCCTGACCATGCAGGGGACAGATGGTGCAGGGGAGAATGGGCACTGGCAGAGGGAATGGGAGTCTGGGCTGTGCTGAGCAGTCCCTCCTTGGCACTGCAAATCCTACTTTGGCATGGCCAGAAGTAATCGGCCTTAAGCACCGGGGGCCATTGAGGCAGTTCAGGGGCTGGGAAATATGGAAGAGGGTCCTGGAAAGGAGAAGCAATTTGAACAATCGGAGGGAACAAGGCCACAGGAAGGGATGACAAGAGCCGCAGCGAACACTGGATTCTGAGACTGGATAACATTGGATTTCACACATAGAGAAAAGAAAGTAAGCTGGTGCCGGACCTGGTGTTGACACTTGGATCCTCCACTTACCAGCGGGGTGACCTGGACAATTTCTGTAATCCCTCTCACTCAGTTTCCTACTCAGTAAAACGGGGATGATAATGTGCCTTGCAAGGCTTTTGTGAGGCTTCATCAATGAGGTGATGTATGTGAAGTGTCTGGCACAGCATGGGCACTCAAACAGAGGTGCTTTTTCACACTTTACACCTTACAAGGTACTTTTCACATGTGTCATCGCGATACTTGCAAGGTTGCTGAGAGGTAGATGGGGTTATAATCCCTGGTGTTCAAGAAAGGAAGCAGAGGCTCAATGGGGTTGAATGACTTCTCTGAGTTCACAGAGCTCAGTAAGTGGCAGGGTTGGAACTCACATTCAGACTCTCTGACTCCAGACTTAGGTTTTTCCGCACCTCCACGCTGAGGCCAGCCCCAGGCAGTGAGAAGCCCAAAGTCCGAAGCACAGAGTGCTGTGTGTTGGGCTCTGTGTGTTGAGGAGTCTTGTGACTGCCTTGGGGCTTTGGGCTGTAGTCAGCTGACAGTCCTTTGTGCTCTGTGGGGATGACGTAGGCCAATGGGAGGACAAATGCCCCTCTGAACTGTCTTCTGGGCAGTGACAGTCATGGTCATAATCCTGACCCTGAGCCAGTGCCAGGTCTCCAAGTGCCTTCTGAATGACCACAGGCGATTGGTTTTAGTGGTAGGTGTGTGGGGATCTGTTCTGGTCATCTGGATGCTGGTCATCGGTGTGCAGTATTGATCAGGACCTGCAAACCCAAAAGCTTATGGGAGCTGGCACGTCACGTGAGTAGAGCAGGCAGGTGCAGGGGTTTTGATGTCCCTGCACTGACACAGTTGTCTGCAGTT
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GTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCATCATGCGCGTGTAGGGGGCAGTTAAAAAGCAGAAGTAAGAAAGATTGCCTAGGGAGGCAGGAAGGGTGAGGTGAGAGGAGAAGAGGCCCAGGACCAGATTCTAGTCACCAACAGCGTTTAAGGGGCAGGTAAGGAAAACAAAACCATCAGCAAAGACTGAGAATGAAAGCCCAGAGAGGAAGGAAAAGCCACACATACAATCAGTACAGCTCCATCTGAATAAAGGTAGCGCCCCCCCCCCCCCCAAATCATTAGAGAAATGCCTGAATCGTGTTTTCTGTTGATATTTCCTAAGCACCTAGATGTAGGGAATAGAAATAAATGGCTCCCTCTGTCTCATCCCCTTCCTGCCCTCTGAGAGGCAGCTGTGAATGCGTGCTTCCTTTCTGGGGGTGCAGATACTTTCTGGACCAACCCTCAGTACCGTCTGAAGCTCCTGGAGGAGGACGATGACCCTGATGACTCGGAGGTGATTTGCAGCTTCCTGGTGGCCCTGATGCAGAAGAACCGGCGGAAGGACCGGAAGCTAGGGGCCAGTCTCTTCACCATTGGCTTCGCCATCTACGAGGTGTGCAGTCCTGATTGGCTCCAGCCCAGGAAACATACTTTCCCAGGGAGGACGCTTCCAGGGGCTTCTAGAGGGGCCCTCTGGCTTCCTCAATACCCAGTGACCCACAGAGCTCCTGGTATCAGGACCACTTGTGTTTGTAACAAGCAAAAAATACCAGGGGGGGCATTAGAGAGGCAGTGGAGCGGGCCTGGCAGAACAGGTGCCTGGGGGTCAGGCTTCCGCATGCGGGCTGCAGTTGCTGGCATTGCCTTCCGCAGGCTCCTCATCCTCATTCACATCTGAAGCATCTTCCTTTCTGTTTCTTCTCAAGGTTCCCAAAGAGGTATAGCAGCAGCAGCGGCCAGCAGTTGTGTGCAGCACTACCCAGGGGGCCCCGAGTCTGTCTGTGGCTCGTCGAGAAGCTTCCTGGTGGGGTTTGTGGGCAGGACTGTGATAGGAGAGGGCCTTGCCTGTGTTATTTCCACTGCAGAGCAGGTGCCTCAGGGCATTGCATGACCCATGACTACCACCCCCAGGATGTGCACTTTCTCCCTCGCACCAGACACTGCACGTCACACACATGCCTTTGCACACTCACCCTCCTCCACGCTTACAGCCACACACACAGTCACACAGACGCGTTCTGAGGGTGGCTGCCCGCTTGGGATGGAGGAATCACTTCCCTCAGAACCCAGCCAAGTCCTCTAGGCCTCCTTGGGGGTCCTTCCAGCCTGAGGGGCTTCGGAGCTGAGGAGCAGCTGTTCTGGTAAGTGTCCCTGAGTGTGGGGATGACACATTTGCCATTCACTCTGAATCACAACAGAAAAGGAAGAGGAAGTGAGGTAGGGAGGCTATTTAAGCCTTGGGAGTCGGAAGTAGGGAGGTTGAAACTGTGACATGGGTGACCAGGGAGTTGGGAAGGGACCCTTGGAGGTGGCTGTGGCAGGACAGGATGTTCCTCCCGAGGGGCTCATGTGCCCTGGGCTCTCCCCATCTCTCAGATGCACGGGAACAAGCAGCACCTGCAGAAGGACTTCTTCCTGTACAACGCCTCCAAGGCCAGGAGCAAAACCTACATCAACATGCGGGAGGTGTCCCAGCGCTTCCGCCTGCCTCCCAGCGAGTACGTCATCGTGCCCTCCACCTACGAGCCCCACCAGGAGGGGGAATTCATCCTCTGGGTCTTCTCTGAAAAGAGGAACCTCTCTGAGTGAGTGCTGGCCCAGCTTTCCCACGTGTTTCTAAAAGCTCACATGGCCCACTCCAGAGGTTGAAGGCATGAGGCAGCTAGACACGTCTCCTCCAGGGTCCTTCTGCTGCTCCTGAGCCACTGGCCACATTACCCCCATTCATTCATTCATCCATTCTGTGATATTTATTGAGCACCTACTATGTTCCAGGCACTGTCCTAGGCACTAAGGATAGAGTAGTGAAGTAAACAGAAAGAAATCCCTGCCTTCATGGAGCTTAATATTCTAACATGAGACAATAATGGATAGGAAAAACATATGTAGCATGTTAGATTTGGAGAGGTGATATGGAGCAAAAATAAAGTAGGGAAGAGGGATAGGAGGTGTTGGGGATGCTTGAAATTTTAGGTTAGCATGGCCAGGAAAGCCACATCCTGTCCCTGGCCACCACAGATGAGCTCATAGCCCCTGCCACTCTGATCTCTGTCCTTGGAAGATGCACCAGGTCCATGGGTAGGTGGCTGGGTCATGCCTTTGGGGGGCTCTGAGCAATACTAACAAGAACCTGCGTGCCTGGGCTTGGCTGTCGGGGATGGTGCTGACATGGGGCTGGTTCCTGGGGTTGGGGTGTTCCAGGGGTTCTCTAGAGGCTGGTTCTGGCTTGGCTGCCAGGAAGCCGTGCACCAGAGCAAACCGTCCACGGGCCTCCTGCTTGCTTCTGGTGACACTGAGACCCCACATGTCTGTATTCCTCACAGGGAAGTTGAAAATACCATCTCCGTGGATCGGCCAGTGGTGAGTGGTTTAGATCTTCTGTGCGAAAAGTCCAGAGGGTCCCCTTCCCTGACCATGCAGGGGACAGATGGTGCAGGGGAGAATGGGCACTGGCAGAGGGAATGGGAGTCTGGGCTGTGCTGAGCAGTCCCTCCTTGGCACTGCAAATCCTACTTTGGCATGGCCAGAAGTAATCGGCCTTAAGCACCGGGGGCCATTGAGGCAGTTCAGGGGCTGGGAAATATGGAAGAGGGTCCTGGAAAGGAGAAGCAATTTGAACAATCGGAGGGAACAAGGCCACAGGAAGGGATGACAAGAGCCGCAGCGAACACTGGATTCTGAGACTGGATAACATTGGATTTCACACATAGAGAAAAGAAAGTAAGCTGGTGCCGGACCTGGTGTTGACACTTGGATCCTCCACTTACCAGCGGGGTGACCTGGACAATTTCTGTAATCCCTCTCACTCAGTTTCCTACTCAGTAAAACGGGGATGATAATGTGCCTTGCAAGGCTTTTGTGAGGCTTCATCAATGAGGTGATGTATGTGAAGTGTCTGGCACAGCATGGGCACTCAAACAGAGGTGCTTTTTCACACTTTACACCTTACAAGGTACTTTTCACATGTGTCATCGCGATACTTGCAAGGTTGCTGAGAGGTAGATGGGGTTATAATCCCTGGTGTTCAAGAAAGGAAGCAGAGGCTCAATGGGGTTGAATGACTTCTCTGAGTTCACAGAGCTCAGTAAGTGGCAGGGTTGGAACTCACATTCAGACTCTCTGACTCCAGACTTAGGTTTTTCCGCACCTCCACGCTGAGGCCAGCCCCAGGCAGTGAGAAGCCCAAAGTCCGAAGCACAGAGTGCTGTGTGTTGGGCTCTGTGTGTTGAGGAGTCTTGTGACTGCCTTGGGGCTTTGGGCTGTAGTCAGCTGACAGTCCTTTGTGCTCTGTGGGGATGACGTAGGCCAATGGGAGGACAAATGCCCCTCTGAACTGTCTTCTGGGCAGTGACAGTCATGGTCATAATCCTGACCCTGAGCCAGTGCCAGGTCTCCAAGTGCCTTCTGAATGACCACAGGCGATTGGTTTTAGTGGTAGGTGTGTGGGGATCTGTTCTGGTCATCTGGATGCTGGTCATCGGTGTGCAGTATTGATCAGGACCTGCAAACCCAAAAGCTTATGGGAGCTGGCACGTCACGTGAGTAGAGCAGGCAGGTGCAGGGGTTTTGATGTCCCTGCACTGACACAGTTGTCTGCAGTT
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Task1_train_20590
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Located on Chromosome 15, this mutation impacts CAPN3 (calpain 3). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Muscular dystrophy, limb-girdle, autosomal dominant 4
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GTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCATCATGCGCGTGTAGGGGGCAGTTAAAAAGCAGAAGTAAGAAAGATTGCCTAGGGAGGCAGGAAGGGTGAGGTGAGAGGAGAAGAGGCCCAGGACCAGATTCTAGTCACCAACAGCGTTTAAGGGGCAGGTAAGGAAAACAAAACCATCAGCAAAGACTGAGAATGAAAGCCCAGAGAGGAAGGAAAAGCCACACATACAATCAGTACAGCTCCATCTGAATAAAGGTAGCGCCCCCCCCCCCCCCAAATCATTAGAGAAATGCCTGAATCGTGTTTTCTGTTGATATTTCCTAAGCACCTAGATGTAGGGAATAGAAATAAATGGCTCCCTCTGTCTCATCCCCTTCCTGCCCTCTGAGAGGCAGCTGTGAATGCGTGCTTCCTTTCTGGGGGTGCAGATACTTTCTGGACCAACCCTCAGTACCGTCTGAAGCTCCTGGAGGAGGACGATGACCCTGATGACTCGGAGGTGATTTGCAGCTTCCTGGTGGCCCTGATGCAGAAGAACCGGCGGAAGGACCGGAAGCTAGGGGCCAGTCTCTTCACCATTGGCTTCGCCATCTACGAGGTGTGCAGTCCTGATTGGCTCCAGCCCAGGAAACATACTTTCCCAGGGAGGACGCTTCCAGGGGCTTCTAGAGGGGCCCTCTGGCTTCCTCAATACCCAGTGACCCACAGAGCTCCTGGTATCAGGACCACTTGTGTTTGTAACAAGCAAAAAATACCAGGGGGGGCATTAGAGAGGCAGTGGAGCGGGCCTGGCAGAACAGGTGCCTGGGGGTCAGGCTTCCGCATGCGGGCTGCAGTTGCTGGCATTGCCTTCCGCAGGCTCCTCATCCTCATTCACATCTGAAGCATCTTCCTTTCTGTTTCTTCTCAAGGTTCCCAAAGAGGTATAGCAGCAGCAGCGGCCAGCAGTTGTGTGCAGCACTACCCAGGGGGCCCCGAGTCTGTCTGTGGCTCGTCGAGAAGCTTCCTGGTGGGGTTTGTGGGCAGGACTGTGATAGGAGAGGGCCTTGCCTGTGTTATTTCCACTGCAGAGCAGGTGCCTCAGGGCATTGCATGACCCATGACTACCACCCCCAGGATGTGCACTTTCTCCCTCGCACCAGACACTGCACGTCACACACATGCCTTTGCACACTCACCCTCCTCCACGCTTACAGCCACACACACAGTCACACAGACGCGTTCTGAGGGTGGCTGCCCGCTTGGGATGGAGGAATCACTTCCCTCAGAACCCAGCCAAGTCCTCTAGGCCTCCTTGGGGGTCCTTCCAGCCTGAGGGGCTTCGGAGCTGAGGAGCAGCTGTTCTGGTAAGTGTCCCTGAGTGTGGGGATGACACATTTGCCATTCACTCTGAATCACAACAGAAAAGGAAGAGGAAGTGAGGTAGGGAGGCTATTTAAGCCTTGGGAGTCGGAAGTAGGGAGGTTGAAACTGTGACATGGGTGACCAGGGAGTTGGGAAGGGACCCTTGGAGGTGGCTGTGGCAGGACAGGATGTTCCTCCCGAGGGGCTCATGTGCCCTGGGCTCTCCCCATCTCTCAGATGCACGGGAACAAGCAGCACCTGCAGAAGGACTTCTTCCTGTACAACGCCTCCAAGGCCAGGAGCAAAACCTACATCAACATGCGGGAGGTGTCCCAGCGCTTCCGCCTGCCTCCCAGCGAGTACGTCATCGTGCCCTCCACCTACGAGCCCCACCAGGAGGGGGAATTCATCCTCCGGGTCTTCTCTGAAAAGAGGAACCTCTCTGAGTGAGTGCTGGCCCAGCTTTCCCACGTGTTTCTAAAAGCTCACATGGCCCACTCCAGAGGTTGAAGGCATGAGGCAGCTAGACACGTCTCCTCCAGGGTCCTTCTGCTGCTCCTGAGCCACTGGCCACATTACCCCCATTCATTCATTCATCCATTCTGTGATATTTATTGAGCACCTACTATGTTCCAGGCACTGTCCTAGGCACTAAGGATAGAGTAGTGAAGTAAACAGAAAGAAATCCCTGCCTTCATGGAGCTTAATATTCTAACATGAGACAATAATGGATAGGAAAAACATATGTAGCATGTTAGATTTGGAGAGGTGATATGGAGCAAAAATAAAGTAGGGAAGAGGGATAGGAGGTGTTGGGGATGCTTGAAATTTTAGGTTAGCATGGCCAGGAAAGCCACATCCTGTCCCTGGCCACCACAGATGAGCTCATAGCCCCTGCCACTCTGATCTCTGTCCTTGGAAGATGCACCAGGTCCATGGGTAGGTGGCTGGGTCATGCCTTTGGGGGGCTCTGAGCAATACTAACAAGAACCTGCGTGCCTGGGCTTGGCTGTCGGGGATGGTGCTGACATGGGGCTGGTTCCTGGGGTTGGGGTGTTCCAGGGGTTCTCTAGAGGCTGGTTCTGGCTTGGCTGCCAGGAAGCCGTGCACCAGAGCAAACCGTCCACGGGCCTCCTGCTTGCTTCTGGTGACACTGAGACCCCACATGTCTGTATTCCTCACAGGGAAGTTGAAAATACCATCTCCGTGGATCGGCCAGTGGTGAGTGGTTTAGATCTTCTGTGCGAAAAGTCCAGAGGGTCCCCTTCCCTGACCATGCAGGGGACAGATGGTGCAGGGGAGAATGGGCACTGGCAGAGGGAATGGGAGTCTGGGCTGTGCTGAGCAGTCCCTCCTTGGCACTGCAAATCCTACTTTGGCATGGCCAGAAGTAATCGGCCTTAAGCACCGGGGGCCATTGAGGCAGTTCAGGGGCTGGGAAATATGGAAGAGGGTCCTGGAAAGGAGAAGCAATTTGAACAATCGGAGGGAACAAGGCCACAGGAAGGGATGACAAGAGCCGCAGCGAACACTGGATTCTGAGACTGGATAACATTGGATTTCACACATAGAGAAAAGAAAGTAAGCTGGTGCCGGACCTGGTGTTGACACTTGGATCCTCCACTTACCAGCGGGGTGACCTGGACAATTTCTGTAATCCCTCTCACTCAGTTTCCTACTCAGTAAAACGGGGATGATAATGTGCCTTGCAAGGCTTTTGTGAGGCTTCATCAATGAGGTGATGTATGTGAAGTGTCTGGCACAGCATGGGCACTCAAACAGAGGTGCTTTTTCACACTTTACACCTTACAAGGTACTTTTCACATGTGTCATCGCGATACTTGCAAGGTTGCTGAGAGGTAGATGGGGTTATAATCCCTGGTGTTCAAGAAAGGAAGCAGAGGCTCAATGGGGTTGAATGACTTCTCTGAGTTCACAGAGCTCAGTAAGTGGCAGGGTTGGAACTCACATTCAGACTCTCTGACTCCAGACTTAGGTTTTTCCGCACCTCCACGCTGAGGCCAGCCCCAGGCAGTGAGAAGCCCAAAGTCCGAAGCACAGAGTGCTGTGTGTTGGGCTCTGTGTGTTGAGGAGTCTTGTGACTGCCTTGGGGCTTTGGGCTGTAGTCAGCTGACAGTCCTTTGTGCTCTGTGGGGATGACGTAGGCCAATGGGAGGACAAATGCCCCTCTGAACTGTCTTCTGGGCAGTGACAGTCATGGTCATAATCCTGACCCTGAGCCAGTGCCAGGTCTCCAAGTGCCTTCTGAATGACCACAGGCGATTGGTTTTAGTGGTAGGTGTGTGGGGATCTGTTCTGGTCATCTGGATGCTGGTCATCGGTGTGCAGTATTGATCAGGACCTGCAAACCCAAAAGCTTATGGGAGCTGGCACGTCACGTGAGTAGAGCAGGCAGGTGCAGGGGTTTTGATGTCCCTGCACTGACACAGTTGTCTGCAGTT
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GTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCATCATGCGCGTGTAGGGGGCAGTTAAAAAGCAGAAGTAAGAAAGATTGCCTAGGGAGGCAGGAAGGGTGAGGTGAGAGGAGAAGAGGCCCAGGACCAGATTCTAGTCACCAACAGCGTTTAAGGGGCAGGTAAGGAAAACAAAACCATCAGCAAAGACTGAGAATGAAAGCCCAGAGAGGAAGGAAAAGCCACACATACAATCAGTACAGCTCCATCTGAATAAAGGTAGCGCCCCCCCCCCCCCCAAATCATTAGAGAAATGCCTGAATCGTGTTTTCTGTTGATATTTCCTAAGCACCTAGATGTAGGGAATAGAAATAAATGGCTCCCTCTGTCTCATCCCCTTCCTGCCCTCTGAGAGGCAGCTGTGAATGCGTGCTTCCTTTCTGGGGGTGCAGATACTTTCTGGACCAACCCTCAGTACCGTCTGAAGCTCCTGGAGGAGGACGATGACCCTGATGACTCGGAGGTGATTTGCAGCTTCCTGGTGGCCCTGATGCAGAAGAACCGGCGGAAGGACCGGAAGCTAGGGGCCAGTCTCTTCACCATTGGCTTCGCCATCTACGAGGTGTGCAGTCCTGATTGGCTCCAGCCCAGGAAACATACTTTCCCAGGGAGGACGCTTCCAGGGGCTTCTAGAGGGGCCCTCTGGCTTCCTCAATACCCAGTGACCCACAGAGCTCCTGGTATCAGGACCACTTGTGTTTGTAACAAGCAAAAAATACCAGGGGGGGCATTAGAGAGGCAGTGGAGCGGGCCTGGCAGAACAGGTGCCTGGGGGTCAGGCTTCCGCATGCGGGCTGCAGTTGCTGGCATTGCCTTCCGCAGGCTCCTCATCCTCATTCACATCTGAAGCATCTTCCTTTCTGTTTCTTCTCAAGGTTCCCAAAGAGGTATAGCAGCAGCAGCGGCCAGCAGTTGTGTGCAGCACTACCCAGGGGGCCCCGAGTCTGTCTGTGGCTCGTCGAGAAGCTTCCTGGTGGGGTTTGTGGGCAGGACTGTGATAGGAGAGGGCCTTGCCTGTGTTATTTCCACTGCAGAGCAGGTGCCTCAGGGCATTGCATGACCCATGACTACCACCCCCAGGATGTGCACTTTCTCCCTCGCACCAGACACTGCACGTCACACACATGCCTTTGCACACTCACCCTCCTCCACGCTTACAGCCACACACACAGTCACACAGACGCGTTCTGAGGGTGGCTGCCCGCTTGGGATGGAGGAATCACTTCCCTCAGAACCCAGCCAAGTCCTCTAGGCCTCCTTGGGGGTCCTTCCAGCCTGAGGGGCTTCGGAGCTGAGGAGCAGCTGTTCTGGTAAGTGTCCCTGAGTGTGGGGATGACACATTTGCCATTCACTCTGAATCACAACAGAAAAGGAAGAGGAAGTGAGGTAGGGAGGCTATTTAAGCCTTGGGAGTCGGAAGTAGGGAGGTTGAAACTGTGACATGGGTGACCAGGGAGTTGGGAAGGGACCCTTGGAGGTGGCTGTGGCAGGACAGGATGTTCCTCCCGAGGGGCTCATGTGCCCTGGGCTCTCCCCATCTCTCAGATGCACGGGAACAAGCAGCACCTGCAGAAGGACTTCTTCCTGTACAACGCCTCCAAGGCCAGGAGCAAAACCTACATCAACATGCGGGAGGTGTCCCAGCGCTTCCGCCTGCCTCCCAGCGAGTACGTCATCGTGCCCTCCACCTACGAGCCCCACCAGGAGGGGGAATTCATCCTCTGGGTCTTCTCTGAAAAGAGGAACCTCTCTGAGTGAGTGCTGGCCCAGCTTTCCCACGTGTTTCTAAAAGCTCACATGGCCCACTCCAGAGGTTGAAGGCATGAGGCAGCTAGACACGTCTCCTCCAGGGTCCTTCTGCTGCTCCTGAGCCACTGGCCACATTACCCCCATTCATTCATTCATCCATTCTGTGATATTTATTGAGCACCTACTATGTTCCAGGCACTGTCCTAGGCACTAAGGATAGAGTAGTGAAGTAAACAGAAAGAAATCCCTGCCTTCATGGAGCTTAATATTCTAACATGAGACAATAATGGATAGGAAAAACATATGTAGCATGTTAGATTTGGAGAGGTGATATGGAGCAAAAATAAAGTAGGGAAGAGGGATAGGAGGTGTTGGGGATGCTTGAAATTTTAGGTTAGCATGGCCAGGAAAGCCACATCCTGTCCCTGGCCACCACAGATGAGCTCATAGCCCCTGCCACTCTGATCTCTGTCCTTGGAAGATGCACCAGGTCCATGGGTAGGTGGCTGGGTCATGCCTTTGGGGGGCTCTGAGCAATACTAACAAGAACCTGCGTGCCTGGGCTTGGCTGTCGGGGATGGTGCTGACATGGGGCTGGTTCCTGGGGTTGGGGTGTTCCAGGGGTTCTCTAGAGGCTGGTTCTGGCTTGGCTGCCAGGAAGCCGTGCACCAGAGCAAACCGTCCACGGGCCTCCTGCTTGCTTCTGGTGACACTGAGACCCCACATGTCTGTATTCCTCACAGGGAAGTTGAAAATACCATCTCCGTGGATCGGCCAGTGGTGAGTGGTTTAGATCTTCTGTGCGAAAAGTCCAGAGGGTCCCCTTCCCTGACCATGCAGGGGACAGATGGTGCAGGGGAGAATGGGCACTGGCAGAGGGAATGGGAGTCTGGGCTGTGCTGAGCAGTCCCTCCTTGGCACTGCAAATCCTACTTTGGCATGGCCAGAAGTAATCGGCCTTAAGCACCGGGGGCCATTGAGGCAGTTCAGGGGCTGGGAAATATGGAAGAGGGTCCTGGAAAGGAGAAGCAATTTGAACAATCGGAGGGAACAAGGCCACAGGAAGGGATGACAAGAGCCGCAGCGAACACTGGATTCTGAGACTGGATAACATTGGATTTCACACATAGAGAAAAGAAAGTAAGCTGGTGCCGGACCTGGTGTTGACACTTGGATCCTCCACTTACCAGCGGGGTGACCTGGACAATTTCTGTAATCCCTCTCACTCAGTTTCCTACTCAGTAAAACGGGGATGATAATGTGCCTTGCAAGGCTTTTGTGAGGCTTCATCAATGAGGTGATGTATGTGAAGTGTCTGGCACAGCATGGGCACTCAAACAGAGGTGCTTTTTCACACTTTACACCTTACAAGGTACTTTTCACATGTGTCATCGCGATACTTGCAAGGTTGCTGAGAGGTAGATGGGGTTATAATCCCTGGTGTTCAAGAAAGGAAGCAGAGGCTCAATGGGGTTGAATGACTTCTCTGAGTTCACAGAGCTCAGTAAGTGGCAGGGTTGGAACTCACATTCAGACTCTCTGACTCCAGACTTAGGTTTTTCCGCACCTCCACGCTGAGGCCAGCCCCAGGCAGTGAGAAGCCCAAAGTCCGAAGCACAGAGTGCTGTGTGTTGGGCTCTGTGTGTTGAGGAGTCTTGTGACTGCCTTGGGGCTTTGGGCTGTAGTCAGCTGACAGTCCTTTGTGCTCTGTGGGGATGACGTAGGCCAATGGGAGGACAAATGCCCCTCTGAACTGTCTTCTGGGCAGTGACAGTCATGGTCATAATCCTGACCCTGAGCCAGTGCCAGGTCTCCAAGTGCCTTCTGAATGACCACAGGCGATTGGTTTTAGTGGTAGGTGTGTGGGGATCTGTTCTGGTCATCTGGATGCTGGTCATCGGTGTGCAGTATTGATCAGGACCTGCAAACCCAAAAGCTTATGGGAGCTGGCACGTCACGTGAGTAGAGCAGGCAGGTGCAGGGGTTTTGATGTCCCTGCACTGACACAGTTGTCTGCAGTT
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Task1_train_20591
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This sequence variant lies in CAPN3 (calpain 3) on Chromosome 15. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2A
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TGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCATCATGCGCGTGTAGGGGGCAGTTAAAAAGCAGAAGTAAGAAAGATTGCCTAGGGAGGCAGGAAGGGTGAGGTGAGAGGAGAAGAGGCCCAGGACCAGATTCTAGTCACCAACAGCGTTTAAGGGGCAGGTAAGGAAAACAAAACCATCAGCAAAGACTGAGAATGAAAGCCCAGAGAGGAAGGAAAAGCCACACATACAATCAGTACAGCTCCATCTGAATAAAGGTAGCGCCCCCCCCCCCCCCAAATCATTAGAGAAATGCCTGAATCGTGTTTTCTGTTGATATTTCCTAAGCACCTAGATGTAGGGAATAGAAATAAATGGCTCCCTCTGTCTCATCCCCTTCCTGCCCTCTGAGAGGCAGCTGTGAATGCGTGCTTCCTTTCTGGGGGTGCAGATACTTTCTGGACCAACCCTCAGTACCGTCTGAAGCTCCTGGAGGAGGACGATGACCCTGATGACTCGGAGGTGATTTGCAGCTTCCTGGTGGCCCTGATGCAGAAGAACCGGCGGAAGGACCGGAAGCTAGGGGCCAGTCTCTTCACCATTGGCTTCGCCATCTACGAGGTGTGCAGTCCTGATTGGCTCCAGCCCAGGAAACATACTTTCCCAGGGAGGACGCTTCCAGGGGCTTCTAGAGGGGCCCTCTGGCTTCCTCAATACCCAGTGACCCACAGAGCTCCTGGTATCAGGACCACTTGTGTTTGTAACAAGCAAAAAATACCAGGGGGGGCATTAGAGAGGCAGTGGAGCGGGCCTGGCAGAACAGGTGCCTGGGGGTCAGGCTTCCGCATGCGGGCTGCAGTTGCTGGCATTGCCTTCCGCAGGCTCCTCATCCTCATTCACATCTGAAGCATCTTCCTTTCTGTTTCTTCTCAAGGTTCCCAAAGAGGTATAGCAGCAGCAGCGGCCAGCAGTTGTGTGCAGCACTACCCAGGGGGCCCCGAGTCTGTCTGTGGCTCGTCGAGAAGCTTCCTGGTGGGGTTTGTGGGCAGGACTGTGATAGGAGAGGGCCTTGCCTGTGTTATTTCCACTGCAGAGCAGGTGCCTCAGGGCATTGCATGACCCATGACTACCACCCCCAGGATGTGCACTTTCTCCCTCGCACCAGACACTGCACGTCACACACATGCCTTTGCACACTCACCCTCCTCCACGCTTACAGCCACACACACAGTCACACAGACGCGTTCTGAGGGTGGCTGCCCGCTTGGGATGGAGGAATCACTTCCCTCAGAACCCAGCCAAGTCCTCTAGGCCTCCTTGGGGGTCCTTCCAGCCTGAGGGGCTTCGGAGCTGAGGAGCAGCTGTTCTGGTAAGTGTCCCTGAGTGTGGGGATGACACATTTGCCATTCACTCTGAATCACAACAGAAAAGGAAGAGGAAGTGAGGTAGGGAGGCTATTTAAGCCTTGGGAGTCGGAAGTAGGGAGGTTGAAACTGTGACATGGGTGACCAGGGAGTTGGGAAGGGACCCTTGGAGGTGGCTGTGGCAGGACAGGATGTTCCTCCCGAGGGGCTCATGTGCCCTGGGCTCTCCCCATCTCTCAGATGCACGGGAACAAGCAGCACCTGCAGAAGGACTTCTTCCTGTACAACGCCTCCAAGGCCAGGAGCAAAACCTACATCAACATGCGGGAGGTGTCCCAGCGCTTCCGCCTGCCTCCCAGCGAGTACGTCATCGTGCCCTCCACCTACGAGCCCCACCAGGAGGGGGAATTCATCCTCCGGGTCTTCTCTGAAAAGAGGAACCTCTCTGAGTGAGTGCTGGCCCAGCTTTCCCACGTGTTTCTAAAAGCTCACATGGCCCACTCCAGAGGTTGAAGGCATGAGGCAGCTAGACACGTCTCCTCCAGGGTCCTTCTGCTGCTCCTGAGCCACTGGCCACATTACCCCCATTCATTCATTCATCCATTCTGTGATATTTATTGAGCACCTACTATGTTCCAGGCACTGTCCTAGGCACTAAGGATAGAGTAGTGAAGTAAACAGAAAGAAATCCCTGCCTTCATGGAGCTTAATATTCTAACATGAGACAATAATGGATAGGAAAAACATATGTAGCATGTTAGATTTGGAGAGGTGATATGGAGCAAAAATAAAGTAGGGAAGAGGGATAGGAGGTGTTGGGGATGCTTGAAATTTTAGGTTAGCATGGCCAGGAAAGCCACATCCTGTCCCTGGCCACCACAGATGAGCTCATAGCCCCTGCCACTCTGATCTCTGTCCTTGGAAGATGCACCAGGTCCATGGGTAGGTGGCTGGGTCATGCCTTTGGGGGGCTCTGAGCAATACTAACAAGAACCTGCGTGCCTGGGCTTGGCTGTCGGGGATGGTGCTGACATGGGGCTGGTTCCTGGGGTTGGGGTGTTCCAGGGGTTCTCTAGAGGCTGGTTCTGGCTTGGCTGCCAGGAAGCCGTGCACCAGAGCAAACCGTCCACGGGCCTCCTGCTTGCTTCTGGTGACACTGAGACCCCACATGTCTGTATTCCTCACAGGGAAGTTGAAAATACCATCTCCGTGGATCGGCCAGTGGTGAGTGGTTTAGATCTTCTGTGCGAAAAGTCCAGAGGGTCCCCTTCCCTGACCATGCAGGGGACAGATGGTGCAGGGGAGAATGGGCACTGGCAGAGGGAATGGGAGTCTGGGCTGTGCTGAGCAGTCCCTCCTTGGCACTGCAAATCCTACTTTGGCATGGCCAGAAGTAATCGGCCTTAAGCACCGGGGGCCATTGAGGCAGTTCAGGGGCTGGGAAATATGGAAGAGGGTCCTGGAAAGGAGAAGCAATTTGAACAATCGGAGGGAACAAGGCCACAGGAAGGGATGACAAGAGCCGCAGCGAACACTGGATTCTGAGACTGGATAACATTGGATTTCACACATAGAGAAAAGAAAGTAAGCTGGTGCCGGACCTGGTGTTGACACTTGGATCCTCCACTTACCAGCGGGGTGACCTGGACAATTTCTGTAATCCCTCTCACTCAGTTTCCTACTCAGTAAAACGGGGATGATAATGTGCCTTGCAAGGCTTTTGTGAGGCTTCATCAATGAGGTGATGTATGTGAAGTGTCTGGCACAGCATGGGCACTCAAACAGAGGTGCTTTTTCACACTTTACACCTTACAAGGTACTTTTCACATGTGTCATCGCGATACTTGCAAGGTTGCTGAGAGGTAGATGGGGTTATAATCCCTGGTGTTCAAGAAAGGAAGCAGAGGCTCAATGGGGTTGAATGACTTCTCTGAGTTCACAGAGCTCAGTAAGTGGCAGGGTTGGAACTCACATTCAGACTCTCTGACTCCAGACTTAGGTTTTTCCGCACCTCCACGCTGAGGCCAGCCCCAGGCAGTGAGAAGCCCAAAGTCCGAAGCACAGAGTGCTGTGTGTTGGGCTCTGTGTGTTGAGGAGTCTTGTGACTGCCTTGGGGCTTTGGGCTGTAGTCAGCTGACAGTCCTTTGTGCTCTGTGGGGATGACGTAGGCCAATGGGAGGACAAATGCCCCTCTGAACTGTCTTCTGGGCAGTGACAGTCATGGTCATAATCCTGACCCTGAGCCAGTGCCAGGTCTCCAAGTGCCTTCTGAATGACCACAGGCGATTGGTTTTAGTGGTAGGTGTGTGGGGATCTGTTCTGGTCATCTGGATGCTGGTCATCGGTGTGCAGTATTGATCAGGACCTGCAAACCCAAAAGCTTATGGGAGCTGGCACGTCACGTGAGTAGAGCAGGCAGGTGCAGGGGTTTTGATGTCCCTGCACTGACACAGTTGTCTGCAGTTC
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TGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCATCATGCGCGTGTAGGGGGCAGTTAAAAAGCAGAAGTAAGAAAGATTGCCTAGGGAGGCAGGAAGGGTGAGGTGAGAGGAGAAGAGGCCCAGGACCAGATTCTAGTCACCAACAGCGTTTAAGGGGCAGGTAAGGAAAACAAAACCATCAGCAAAGACTGAGAATGAAAGCCCAGAGAGGAAGGAAAAGCCACACATACAATCAGTACAGCTCCATCTGAATAAAGGTAGCGCCCCCCCCCCCCCCAAATCATTAGAGAAATGCCTGAATCGTGTTTTCTGTTGATATTTCCTAAGCACCTAGATGTAGGGAATAGAAATAAATGGCTCCCTCTGTCTCATCCCCTTCCTGCCCTCTGAGAGGCAGCTGTGAATGCGTGCTTCCTTTCTGGGGGTGCAGATACTTTCTGGACCAACCCTCAGTACCGTCTGAAGCTCCTGGAGGAGGACGATGACCCTGATGACTCGGAGGTGATTTGCAGCTTCCTGGTGGCCCTGATGCAGAAGAACCGGCGGAAGGACCGGAAGCTAGGGGCCAGTCTCTTCACCATTGGCTTCGCCATCTACGAGGTGTGCAGTCCTGATTGGCTCCAGCCCAGGAAACATACTTTCCCAGGGAGGACGCTTCCAGGGGCTTCTAGAGGGGCCCTCTGGCTTCCTCAATACCCAGTGACCCACAGAGCTCCTGGTATCAGGACCACTTGTGTTTGTAACAAGCAAAAAATACCAGGGGGGGCATTAGAGAGGCAGTGGAGCGGGCCTGGCAGAACAGGTGCCTGGGGGTCAGGCTTCCGCATGCGGGCTGCAGTTGCTGGCATTGCCTTCCGCAGGCTCCTCATCCTCATTCACATCTGAAGCATCTTCCTTTCTGTTTCTTCTCAAGGTTCCCAAAGAGGTATAGCAGCAGCAGCGGCCAGCAGTTGTGTGCAGCACTACCCAGGGGGCCCCGAGTCTGTCTGTGGCTCGTCGAGAAGCTTCCTGGTGGGGTTTGTGGGCAGGACTGTGATAGGAGAGGGCCTTGCCTGTGTTATTTCCACTGCAGAGCAGGTGCCTCAGGGCATTGCATGACCCATGACTACCACCCCCAGGATGTGCACTTTCTCCCTCGCACCAGACACTGCACGTCACACACATGCCTTTGCACACTCACCCTCCTCCACGCTTACAGCCACACACACAGTCACACAGACGCGTTCTGAGGGTGGCTGCCCGCTTGGGATGGAGGAATCACTTCCCTCAGAACCCAGCCAAGTCCTCTAGGCCTCCTTGGGGGTCCTTCCAGCCTGAGGGGCTTCGGAGCTGAGGAGCAGCTGTTCTGGTAAGTGTCCCTGAGTGTGGGGATGACACATTTGCCATTCACTCTGAATCACAACAGAAAAGGAAGAGGAAGTGAGGTAGGGAGGCTATTTAAGCCTTGGGAGTCGGAAGTAGGGAGGTTGAAACTGTGACATGGGTGACCAGGGAGTTGGGAAGGGACCCTTGGAGGTGGCTGTGGCAGGACAGGATGTTCCTCCCGAGGGGCTCATGTGCCCTGGGCTCTCCCCATCTCTCAGATGCACGGGAACAAGCAGCACCTGCAGAAGGACTTCTTCCTGTACAACGCCTCCAAGGCCAGGAGCAAAACCTACATCAACATGCGGGAGGTGTCCCAGCGCTTCCGCCTGCCTCCCAGCGAGTACGTCATCGTGCCCTCCACCTACGAGCCCCACCAGGAGGGGGAATTCATCCTCCAGGTCTTCTCTGAAAAGAGGAACCTCTCTGAGTGAGTGCTGGCCCAGCTTTCCCACGTGTTTCTAAAAGCTCACATGGCCCACTCCAGAGGTTGAAGGCATGAGGCAGCTAGACACGTCTCCTCCAGGGTCCTTCTGCTGCTCCTGAGCCACTGGCCACATTACCCCCATTCATTCATTCATCCATTCTGTGATATTTATTGAGCACCTACTATGTTCCAGGCACTGTCCTAGGCACTAAGGATAGAGTAGTGAAGTAAACAGAAAGAAATCCCTGCCTTCATGGAGCTTAATATTCTAACATGAGACAATAATGGATAGGAAAAACATATGTAGCATGTTAGATTTGGAGAGGTGATATGGAGCAAAAATAAAGTAGGGAAGAGGGATAGGAGGTGTTGGGGATGCTTGAAATTTTAGGTTAGCATGGCCAGGAAAGCCACATCCTGTCCCTGGCCACCACAGATGAGCTCATAGCCCCTGCCACTCTGATCTCTGTCCTTGGAAGATGCACCAGGTCCATGGGTAGGTGGCTGGGTCATGCCTTTGGGGGGCTCTGAGCAATACTAACAAGAACCTGCGTGCCTGGGCTTGGCTGTCGGGGATGGTGCTGACATGGGGCTGGTTCCTGGGGTTGGGGTGTTCCAGGGGTTCTCTAGAGGCTGGTTCTGGCTTGGCTGCCAGGAAGCCGTGCACCAGAGCAAACCGTCCACGGGCCTCCTGCTTGCTTCTGGTGACACTGAGACCCCACATGTCTGTATTCCTCACAGGGAAGTTGAAAATACCATCTCCGTGGATCGGCCAGTGGTGAGTGGTTTAGATCTTCTGTGCGAAAAGTCCAGAGGGTCCCCTTCCCTGACCATGCAGGGGACAGATGGTGCAGGGGAGAATGGGCACTGGCAGAGGGAATGGGAGTCTGGGCTGTGCTGAGCAGTCCCTCCTTGGCACTGCAAATCCTACTTTGGCATGGCCAGAAGTAATCGGCCTTAAGCACCGGGGGCCATTGAGGCAGTTCAGGGGCTGGGAAATATGGAAGAGGGTCCTGGAAAGGAGAAGCAATTTGAACAATCGGAGGGAACAAGGCCACAGGAAGGGATGACAAGAGCCGCAGCGAACACTGGATTCTGAGACTGGATAACATTGGATTTCACACATAGAGAAAAGAAAGTAAGCTGGTGCCGGACCTGGTGTTGACACTTGGATCCTCCACTTACCAGCGGGGTGACCTGGACAATTTCTGTAATCCCTCTCACTCAGTTTCCTACTCAGTAAAACGGGGATGATAATGTGCCTTGCAAGGCTTTTGTGAGGCTTCATCAATGAGGTGATGTATGTGAAGTGTCTGGCACAGCATGGGCACTCAAACAGAGGTGCTTTTTCACACTTTACACCTTACAAGGTACTTTTCACATGTGTCATCGCGATACTTGCAAGGTTGCTGAGAGGTAGATGGGGTTATAATCCCTGGTGTTCAAGAAAGGAAGCAGAGGCTCAATGGGGTTGAATGACTTCTCTGAGTTCACAGAGCTCAGTAAGTGGCAGGGTTGGAACTCACATTCAGACTCTCTGACTCCAGACTTAGGTTTTTCCGCACCTCCACGCTGAGGCCAGCCCCAGGCAGTGAGAAGCCCAAAGTCCGAAGCACAGAGTGCTGTGTGTTGGGCTCTGTGTGTTGAGGAGTCTTGTGACTGCCTTGGGGCTTTGGGCTGTAGTCAGCTGACAGTCCTTTGTGCTCTGTGGGGATGACGTAGGCCAATGGGAGGACAAATGCCCCTCTGAACTGTCTTCTGGGCAGTGACAGTCATGGTCATAATCCTGACCCTGAGCCAGTGCCAGGTCTCCAAGTGCCTTCTGAATGACCACAGGCGATTGGTTTTAGTGGTAGGTGTGTGGGGATCTGTTCTGGTCATCTGGATGCTGGTCATCGGTGTGCAGTATTGATCAGGACCTGCAAACCCAAAAGCTTATGGGAGCTGGCACGTCACGTGAGTAGAGCAGGCAGGTGCAGGGGTTTTGATGTCCCTGCACTGACACAGTTGTCTGCAGTTC
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Task1_train_20592
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This is a variant in CAPN3 (calpain 3), located on Chromosome 15. Is this mutation a likely cause of disease or not?
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Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2A
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TGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCATCATGCGCGTGTAGGGGGCAGTTAAAAAGCAGAAGTAAGAAAGATTGCCTAGGGAGGCAGGAAGGGTGAGGTGAGAGGAGAAGAGGCCCAGGACCAGATTCTAGTCACCAACAGCGTTTAAGGGGCAGGTAAGGAAAACAAAACCATCAGCAAAGACTGAGAATGAAAGCCCAGAGAGGAAGGAAAAGCCACACATACAATCAGTACAGCTCCATCTGAATAAAGGTAGCGCCCCCCCCCCCCCCAAATCATTAGAGAAATGCCTGAATCGTGTTTTCTGTTGATATTTCCTAAGCACCTAGATGTAGGGAATAGAAATAAATGGCTCCCTCTGTCTCATCCCCTTCCTGCCCTCTGAGAGGCAGCTGTGAATGCGTGCTTCCTTTCTGGGGGTGCAGATACTTTCTGGACCAACCCTCAGTACCGTCTGAAGCTCCTGGAGGAGGACGATGACCCTGATGACTCGGAGGTGATTTGCAGCTTCCTGGTGGCCCTGATGCAGAAGAACCGGCGGAAGGACCGGAAGCTAGGGGCCAGTCTCTTCACCATTGGCTTCGCCATCTACGAGGTGTGCAGTCCTGATTGGCTCCAGCCCAGGAAACATACTTTCCCAGGGAGGACGCTTCCAGGGGCTTCTAGAGGGGCCCTCTGGCTTCCTCAATACCCAGTGACCCACAGAGCTCCTGGTATCAGGACCACTTGTGTTTGTAACAAGCAAAAAATACCAGGGGGGGCATTAGAGAGGCAGTGGAGCGGGCCTGGCAGAACAGGTGCCTGGGGGTCAGGCTTCCGCATGCGGGCTGCAGTTGCTGGCATTGCCTTCCGCAGGCTCCTCATCCTCATTCACATCTGAAGCATCTTCCTTTCTGTTTCTTCTCAAGGTTCCCAAAGAGGTATAGCAGCAGCAGCGGCCAGCAGTTGTGTGCAGCACTACCCAGGGGGCCCCGAGTCTGTCTGTGGCTCGTCGAGAAGCTTCCTGGTGGGGTTTGTGGGCAGGACTGTGATAGGAGAGGGCCTTGCCTGTGTTATTTCCACTGCAGAGCAGGTGCCTCAGGGCATTGCATGACCCATGACTACCACCCCCAGGATGTGCACTTTCTCCCTCGCACCAGACACTGCACGTCACACACATGCCTTTGCACACTCACCCTCCTCCACGCTTACAGCCACACACACAGTCACACAGACGCGTTCTGAGGGTGGCTGCCCGCTTGGGATGGAGGAATCACTTCCCTCAGAACCCAGCCAAGTCCTCTAGGCCTCCTTGGGGGTCCTTCCAGCCTGAGGGGCTTCGGAGCTGAGGAGCAGCTGTTCTGGTAAGTGTCCCTGAGTGTGGGGATGACACATTTGCCATTCACTCTGAATCACAACAGAAAAGGAAGAGGAAGTGAGGTAGGGAGGCTATTTAAGCCTTGGGAGTCGGAAGTAGGGAGGTTGAAACTGTGACATGGGTGACCAGGGAGTTGGGAAGGGACCCTTGGAGGTGGCTGTGGCAGGACAGGATGTTCCTCCCGAGGGGCTCATGTGCCCTGGGCTCTCCCCATCTCTCAGATGCACGGGAACAAGCAGCACCTGCAGAAGGACTTCTTCCTGTACAACGCCTCCAAGGCCAGGAGCAAAACCTACATCAACATGCGGGAGGTGTCCCAGCGCTTCCGCCTGCCTCCCAGCGAGTACGTCATCGTGCCCTCCACCTACGAGCCCCACCAGGAGGGGGAATTCATCCTCCGGGTCTTCTCTGAAAAGAGGAACCTCTCTGAGTGAGTGCTGGCCCAGCTTTCCCACGTGTTTCTAAAAGCTCACATGGCCCACTCCAGAGGTTGAAGGCATGAGGCAGCTAGACACGTCTCCTCCAGGGTCCTTCTGCTGCTCCTGAGCCACTGGCCACATTACCCCCATTCATTCATTCATCCATTCTGTGATATTTATTGAGCACCTACTATGTTCCAGGCACTGTCCTAGGCACTAAGGATAGAGTAGTGAAGTAAACAGAAAGAAATCCCTGCCTTCATGGAGCTTAATATTCTAACATGAGACAATAATGGATAGGAAAAACATATGTAGCATGTTAGATTTGGAGAGGTGATATGGAGCAAAAATAAAGTAGGGAAGAGGGATAGGAGGTGTTGGGGATGCTTGAAATTTTAGGTTAGCATGGCCAGGAAAGCCACATCCTGTCCCTGGCCACCACAGATGAGCTCATAGCCCCTGCCACTCTGATCTCTGTCCTTGGAAGATGCACCAGGTCCATGGGTAGGTGGCTGGGTCATGCCTTTGGGGGGCTCTGAGCAATACTAACAAGAACCTGCGTGCCTGGGCTTGGCTGTCGGGGATGGTGCTGACATGGGGCTGGTTCCTGGGGTTGGGGTGTTCCAGGGGTTCTCTAGAGGCTGGTTCTGGCTTGGCTGCCAGGAAGCCGTGCACCAGAGCAAACCGTCCACGGGCCTCCTGCTTGCTTCTGGTGACACTGAGACCCCACATGTCTGTATTCCTCACAGGGAAGTTGAAAATACCATCTCCGTGGATCGGCCAGTGGTGAGTGGTTTAGATCTTCTGTGCGAAAAGTCCAGAGGGTCCCCTTCCCTGACCATGCAGGGGACAGATGGTGCAGGGGAGAATGGGCACTGGCAGAGGGAATGGGAGTCTGGGCTGTGCTGAGCAGTCCCTCCTTGGCACTGCAAATCCTACTTTGGCATGGCCAGAAGTAATCGGCCTTAAGCACCGGGGGCCATTGAGGCAGTTCAGGGGCTGGGAAATATGGAAGAGGGTCCTGGAAAGGAGAAGCAATTTGAACAATCGGAGGGAACAAGGCCACAGGAAGGGATGACAAGAGCCGCAGCGAACACTGGATTCTGAGACTGGATAACATTGGATTTCACACATAGAGAAAAGAAAGTAAGCTGGTGCCGGACCTGGTGTTGACACTTGGATCCTCCACTTACCAGCGGGGTGACCTGGACAATTTCTGTAATCCCTCTCACTCAGTTTCCTACTCAGTAAAACGGGGATGATAATGTGCCTTGCAAGGCTTTTGTGAGGCTTCATCAATGAGGTGATGTATGTGAAGTGTCTGGCACAGCATGGGCACTCAAACAGAGGTGCTTTTTCACACTTTACACCTTACAAGGTACTTTTCACATGTGTCATCGCGATACTTGCAAGGTTGCTGAGAGGTAGATGGGGTTATAATCCCTGGTGTTCAAGAAAGGAAGCAGAGGCTCAATGGGGTTGAATGACTTCTCTGAGTTCACAGAGCTCAGTAAGTGGCAGGGTTGGAACTCACATTCAGACTCTCTGACTCCAGACTTAGGTTTTTCCGCACCTCCACGCTGAGGCCAGCCCCAGGCAGTGAGAAGCCCAAAGTCCGAAGCACAGAGTGCTGTGTGTTGGGCTCTGTGTGTTGAGGAGTCTTGTGACTGCCTTGGGGCTTTGGGCTGTAGTCAGCTGACAGTCCTTTGTGCTCTGTGGGGATGACGTAGGCCAATGGGAGGACAAATGCCCCTCTGAACTGTCTTCTGGGCAGTGACAGTCATGGTCATAATCCTGACCCTGAGCCAGTGCCAGGTCTCCAAGTGCCTTCTGAATGACCACAGGCGATTGGTTTTAGTGGTAGGTGTGTGGGGATCTGTTCTGGTCATCTGGATGCTGGTCATCGGTGTGCAGTATTGATCAGGACCTGCAAACCCAAAAGCTTATGGGAGCTGGCACGTCACGTGAGTAGAGCAGGCAGGTGCAGGGGTTTTGATGTCCCTGCACTGACACAGTTGTCTGCAGTTC
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TGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCATCATGCGCGTGTAGGGGGCAGTTAAAAAGCAGAAGTAAGAAAGATTGCCTAGGGAGGCAGGAAGGGTGAGGTGAGAGGAGAAGAGGCCCAGGACCAGATTCTAGTCACCAACAGCGTTTAAGGGGCAGGTAAGGAAAACAAAACCATCAGCAAAGACTGAGAATGAAAGCCCAGAGAGGAAGGAAAAGCCACACATACAATCAGTACAGCTCCATCTGAATAAAGGTAGCGCCCCCCCCCCCCCCAAATCATTAGAGAAATGCCTGAATCGTGTTTTCTGTTGATATTTCCTAAGCACCTAGATGTAGGGAATAGAAATAAATGGCTCCCTCTGTCTCATCCCCTTCCTGCCCTCTGAGAGGCAGCTGTGAATGCGTGCTTCCTTTCTGGGGGTGCAGATACTTTCTGGACCAACCCTCAGTACCGTCTGAAGCTCCTGGAGGAGGACGATGACCCTGATGACTCGGAGGTGATTTGCAGCTTCCTGGTGGCCCTGATGCAGAAGAACCGGCGGAAGGACCGGAAGCTAGGGGCCAGTCTCTTCACCATTGGCTTCGCCATCTACGAGGTGTGCAGTCCTGATTGGCTCCAGCCCAGGAAACATACTTTCCCAGGGAGGACGCTTCCAGGGGCTTCTAGAGGGGCCCTCTGGCTTCCTCAATACCCAGTGACCCACAGAGCTCCTGGTATCAGGACCACTTGTGTTTGTAACAAGCAAAAAATACCAGGGGGGGCATTAGAGAGGCAGTGGAGCGGGCCTGGCAGAACAGGTGCCTGGGGGTCAGGCTTCCGCATGCGGGCTGCAGTTGCTGGCATTGCCTTCCGCAGGCTCCTCATCCTCATTCACATCTGAAGCATCTTCCTTTCTGTTTCTTCTCAAGGTTCCCAAAGAGGTATAGCAGCAGCAGCGGCCAGCAGTTGTGTGCAGCACTACCCAGGGGGCCCCGAGTCTGTCTGTGGCTCGTCGAGAAGCTTCCTGGTGGGGTTTGTGGGCAGGACTGTGATAGGAGAGGGCCTTGCCTGTGTTATTTCCACTGCAGAGCAGGTGCCTCAGGGCATTGCATGACCCATGACTACCACCCCCAGGATGTGCACTTTCTCCCTCGCACCAGACACTGCACGTCACACACATGCCTTTGCACACTCACCCTCCTCCACGCTTACAGCCACACACACAGTCACACAGACGCGTTCTGAGGGTGGCTGCCCGCTTGGGATGGAGGAATCACTTCCCTCAGAACCCAGCCAAGTCCTCTAGGCCTCCTTGGGGGTCCTTCCAGCCTGAGGGGCTTCGGAGCTGAGGAGCAGCTGTTCTGGTAAGTGTCCCTGAGTGTGGGGATGACACATTTGCCATTCACTCTGAATCACAACAGAAAAGGAAGAGGAAGTGAGGTAGGGAGGCTATTTAAGCCTTGGGAGTCGGAAGTAGGGAGGTTGAAACTGTGACATGGGTGACCAGGGAGTTGGGAAGGGACCCTTGGAGGTGGCTGTGGCAGGACAGGATGTTCCTCCCGAGGGGCTCATGTGCCCTGGGCTCTCCCCATCTCTCAGATGCACGGGAACAAGCAGCACCTGCAGAAGGACTTCTTCCTGTACAACGCCTCCAAGGCCAGGAGCAAAACCTACATCAACATGCGGGAGGTGTCCCAGCGCTTCCGCCTGCCTCCCAGCGAGTACGTCATCGTGCCCTCCACCTACGAGCCCCACCAGGAGGGGGAATTCATCCTCCAGGTCTTCTCTGAAAAGAGGAACCTCTCTGAGTGAGTGCTGGCCCAGCTTTCCCACGTGTTTCTAAAAGCTCACATGGCCCACTCCAGAGGTTGAAGGCATGAGGCAGCTAGACACGTCTCCTCCAGGGTCCTTCTGCTGCTCCTGAGCCACTGGCCACATTACCCCCATTCATTCATTCATCCATTCTGTGATATTTATTGAGCACCTACTATGTTCCAGGCACTGTCCTAGGCACTAAGGATAGAGTAGTGAAGTAAACAGAAAGAAATCCCTGCCTTCATGGAGCTTAATATTCTAACATGAGACAATAATGGATAGGAAAAACATATGTAGCATGTTAGATTTGGAGAGGTGATATGGAGCAAAAATAAAGTAGGGAAGAGGGATAGGAGGTGTTGGGGATGCTTGAAATTTTAGGTTAGCATGGCCAGGAAAGCCACATCCTGTCCCTGGCCACCACAGATGAGCTCATAGCCCCTGCCACTCTGATCTCTGTCCTTGGAAGATGCACCAGGTCCATGGGTAGGTGGCTGGGTCATGCCTTTGGGGGGCTCTGAGCAATACTAACAAGAACCTGCGTGCCTGGGCTTGGCTGTCGGGGATGGTGCTGACATGGGGCTGGTTCCTGGGGTTGGGGTGTTCCAGGGGTTCTCTAGAGGCTGGTTCTGGCTTGGCTGCCAGGAAGCCGTGCACCAGAGCAAACCGTCCACGGGCCTCCTGCTTGCTTCTGGTGACACTGAGACCCCACATGTCTGTATTCCTCACAGGGAAGTTGAAAATACCATCTCCGTGGATCGGCCAGTGGTGAGTGGTTTAGATCTTCTGTGCGAAAAGTCCAGAGGGTCCCCTTCCCTGACCATGCAGGGGACAGATGGTGCAGGGGAGAATGGGCACTGGCAGAGGGAATGGGAGTCTGGGCTGTGCTGAGCAGTCCCTCCTTGGCACTGCAAATCCTACTTTGGCATGGCCAGAAGTAATCGGCCTTAAGCACCGGGGGCCATTGAGGCAGTTCAGGGGCTGGGAAATATGGAAGAGGGTCCTGGAAAGGAGAAGCAATTTGAACAATCGGAGGGAACAAGGCCACAGGAAGGGATGACAAGAGCCGCAGCGAACACTGGATTCTGAGACTGGATAACATTGGATTTCACACATAGAGAAAAGAAAGTAAGCTGGTGCCGGACCTGGTGTTGACACTTGGATCCTCCACTTACCAGCGGGGTGACCTGGACAATTTCTGTAATCCCTCTCACTCAGTTTCCTACTCAGTAAAACGGGGATGATAATGTGCCTTGCAAGGCTTTTGTGAGGCTTCATCAATGAGGTGATGTATGTGAAGTGTCTGGCACAGCATGGGCACTCAAACAGAGGTGCTTTTTCACACTTTACACCTTACAAGGTACTTTTCACATGTGTCATCGCGATACTTGCAAGGTTGCTGAGAGGTAGATGGGGTTATAATCCCTGGTGTTCAAGAAAGGAAGCAGAGGCTCAATGGGGTTGAATGACTTCTCTGAGTTCACAGAGCTCAGTAAGTGGCAGGGTTGGAACTCACATTCAGACTCTCTGACTCCAGACTTAGGTTTTTCCGCACCTCCACGCTGAGGCCAGCCCCAGGCAGTGAGAAGCCCAAAGTCCGAAGCACAGAGTGCTGTGTGTTGGGCTCTGTGTGTTGAGGAGTCTTGTGACTGCCTTGGGGCTTTGGGCTGTAGTCAGCTGACAGTCCTTTGTGCTCTGTGGGGATGACGTAGGCCAATGGGAGGACAAATGCCCCTCTGAACTGTCTTCTGGGCAGTGACAGTCATGGTCATAATCCTGACCCTGAGCCAGTGCCAGGTCTCCAAGTGCCTTCTGAATGACCACAGGCGATTGGTTTTAGTGGTAGGTGTGTGGGGATCTGTTCTGGTCATCTGGATGCTGGTCATCGGTGTGCAGTATTGATCAGGACCTGCAAACCCAAAAGCTTATGGGAGCTGGCACGTCACGTGAGTAGAGCAGGCAGGTGCAGGGGTTTTGATGTCCCTGCACTGACACAGTTGTCTGCAGTTC
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Task1_train_20593
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A mutation in CAPN3 (calpain 3), located on Chromosome 15, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Muscular dystrophy, limb-girdle, autosomal dominant 4
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TGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCATCATGCGCGTGTAGGGGGCAGTTAAAAAGCAGAAGTAAGAAAGATTGCCTAGGGAGGCAGGAAGGGTGAGGTGAGAGGAGAAGAGGCCCAGGACCAGATTCTAGTCACCAACAGCGTTTAAGGGGCAGGTAAGGAAAACAAAACCATCAGCAAAGACTGAGAATGAAAGCCCAGAGAGGAAGGAAAAGCCACACATACAATCAGTACAGCTCCATCTGAATAAAGGTAGCGCCCCCCCCCCCCCCAAATCATTAGAGAAATGCCTGAATCGTGTTTTCTGTTGATATTTCCTAAGCACCTAGATGTAGGGAATAGAAATAAATGGCTCCCTCTGTCTCATCCCCTTCCTGCCCTCTGAGAGGCAGCTGTGAATGCGTGCTTCCTTTCTGGGGGTGCAGATACTTTCTGGACCAACCCTCAGTACCGTCTGAAGCTCCTGGAGGAGGACGATGACCCTGATGACTCGGAGGTGATTTGCAGCTTCCTGGTGGCCCTGATGCAGAAGAACCGGCGGAAGGACCGGAAGCTAGGGGCCAGTCTCTTCACCATTGGCTTCGCCATCTACGAGGTGTGCAGTCCTGATTGGCTCCAGCCCAGGAAACATACTTTCCCAGGGAGGACGCTTCCAGGGGCTTCTAGAGGGGCCCTCTGGCTTCCTCAATACCCAGTGACCCACAGAGCTCCTGGTATCAGGACCACTTGTGTTTGTAACAAGCAAAAAATACCAGGGGGGGCATTAGAGAGGCAGTGGAGCGGGCCTGGCAGAACAGGTGCCTGGGGGTCAGGCTTCCGCATGCGGGCTGCAGTTGCTGGCATTGCCTTCCGCAGGCTCCTCATCCTCATTCACATCTGAAGCATCTTCCTTTCTGTTTCTTCTCAAGGTTCCCAAAGAGGTATAGCAGCAGCAGCGGCCAGCAGTTGTGTGCAGCACTACCCAGGGGGCCCCGAGTCTGTCTGTGGCTCGTCGAGAAGCTTCCTGGTGGGGTTTGTGGGCAGGACTGTGATAGGAGAGGGCCTTGCCTGTGTTATTTCCACTGCAGAGCAGGTGCCTCAGGGCATTGCATGACCCATGACTACCACCCCCAGGATGTGCACTTTCTCCCTCGCACCAGACACTGCACGTCACACACATGCCTTTGCACACTCACCCTCCTCCACGCTTACAGCCACACACACAGTCACACAGACGCGTTCTGAGGGTGGCTGCCCGCTTGGGATGGAGGAATCACTTCCCTCAGAACCCAGCCAAGTCCTCTAGGCCTCCTTGGGGGTCCTTCCAGCCTGAGGGGCTTCGGAGCTGAGGAGCAGCTGTTCTGGTAAGTGTCCCTGAGTGTGGGGATGACACATTTGCCATTCACTCTGAATCACAACAGAAAAGGAAGAGGAAGTGAGGTAGGGAGGCTATTTAAGCCTTGGGAGTCGGAAGTAGGGAGGTTGAAACTGTGACATGGGTGACCAGGGAGTTGGGAAGGGACCCTTGGAGGTGGCTGTGGCAGGACAGGATGTTCCTCCCGAGGGGCTCATGTGCCCTGGGCTCTCCCCATCTCTCAGATGCACGGGAACAAGCAGCACCTGCAGAAGGACTTCTTCCTGTACAACGCCTCCAAGGCCAGGAGCAAAACCTACATCAACATGCGGGAGGTGTCCCAGCGCTTCCGCCTGCCTCCCAGCGAGTACGTCATCGTGCCCTCCACCTACGAGCCCCACCAGGAGGGGGAATTCATCCTCCGGGTCTTCTCTGAAAAGAGGAACCTCTCTGAGTGAGTGCTGGCCCAGCTTTCCCACGTGTTTCTAAAAGCTCACATGGCCCACTCCAGAGGTTGAAGGCATGAGGCAGCTAGACACGTCTCCTCCAGGGTCCTTCTGCTGCTCCTGAGCCACTGGCCACATTACCCCCATTCATTCATTCATCCATTCTGTGATATTTATTGAGCACCTACTATGTTCCAGGCACTGTCCTAGGCACTAAGGATAGAGTAGTGAAGTAAACAGAAAGAAATCCCTGCCTTCATGGAGCTTAATATTCTAACATGAGACAATAATGGATAGGAAAAACATATGTAGCATGTTAGATTTGGAGAGGTGATATGGAGCAAAAATAAAGTAGGGAAGAGGGATAGGAGGTGTTGGGGATGCTTGAAATTTTAGGTTAGCATGGCCAGGAAAGCCACATCCTGTCCCTGGCCACCACAGATGAGCTCATAGCCCCTGCCACTCTGATCTCTGTCCTTGGAAGATGCACCAGGTCCATGGGTAGGTGGCTGGGTCATGCCTTTGGGGGGCTCTGAGCAATACTAACAAGAACCTGCGTGCCTGGGCTTGGCTGTCGGGGATGGTGCTGACATGGGGCTGGTTCCTGGGGTTGGGGTGTTCCAGGGGTTCTCTAGAGGCTGGTTCTGGCTTGGCTGCCAGGAAGCCGTGCACCAGAGCAAACCGTCCACGGGCCTCCTGCTTGCTTCTGGTGACACTGAGACCCCACATGTCTGTATTCCTCACAGGGAAGTTGAAAATACCATCTCCGTGGATCGGCCAGTGGTGAGTGGTTTAGATCTTCTGTGCGAAAAGTCCAGAGGGTCCCCTTCCCTGACCATGCAGGGGACAGATGGTGCAGGGGAGAATGGGCACTGGCAGAGGGAATGGGAGTCTGGGCTGTGCTGAGCAGTCCCTCCTTGGCACTGCAAATCCTACTTTGGCATGGCCAGAAGTAATCGGCCTTAAGCACCGGGGGCCATTGAGGCAGTTCAGGGGCTGGGAAATATGGAAGAGGGTCCTGGAAAGGAGAAGCAATTTGAACAATCGGAGGGAACAAGGCCACAGGAAGGGATGACAAGAGCCGCAGCGAACACTGGATTCTGAGACTGGATAACATTGGATTTCACACATAGAGAAAAGAAAGTAAGCTGGTGCCGGACCTGGTGTTGACACTTGGATCCTCCACTTACCAGCGGGGTGACCTGGACAATTTCTGTAATCCCTCTCACTCAGTTTCCTACTCAGTAAAACGGGGATGATAATGTGCCTTGCAAGGCTTTTGTGAGGCTTCATCAATGAGGTGATGTATGTGAAGTGTCTGGCACAGCATGGGCACTCAAACAGAGGTGCTTTTTCACACTTTACACCTTACAAGGTACTTTTCACATGTGTCATCGCGATACTTGCAAGGTTGCTGAGAGGTAGATGGGGTTATAATCCCTGGTGTTCAAGAAAGGAAGCAGAGGCTCAATGGGGTTGAATGACTTCTCTGAGTTCACAGAGCTCAGTAAGTGGCAGGGTTGGAACTCACATTCAGACTCTCTGACTCCAGACTTAGGTTTTTCCGCACCTCCACGCTGAGGCCAGCCCCAGGCAGTGAGAAGCCCAAAGTCCGAAGCACAGAGTGCTGTGTGTTGGGCTCTGTGTGTTGAGGAGTCTTGTGACTGCCTTGGGGCTTTGGGCTGTAGTCAGCTGACAGTCCTTTGTGCTCTGTGGGGATGACGTAGGCCAATGGGAGGACAAATGCCCCTCTGAACTGTCTTCTGGGCAGTGACAGTCATGGTCATAATCCTGACCCTGAGCCAGTGCCAGGTCTCCAAGTGCCTTCTGAATGACCACAGGCGATTGGTTTTAGTGGTAGGTGTGTGGGGATCTGTTCTGGTCATCTGGATGCTGGTCATCGGTGTGCAGTATTGATCAGGACCTGCAAACCCAAAAGCTTATGGGAGCTGGCACGTCACGTGAGTAGAGCAGGCAGGTGCAGGGGTTTTGATGTCCCTGCACTGACACAGTTGTCTGCAGTTC
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TGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCATCATGCGCGTGTAGGGGGCAGTTAAAAAGCAGAAGTAAGAAAGATTGCCTAGGGAGGCAGGAAGGGTGAGGTGAGAGGAGAAGAGGCCCAGGACCAGATTCTAGTCACCAACAGCGTTTAAGGGGCAGGTAAGGAAAACAAAACCATCAGCAAAGACTGAGAATGAAAGCCCAGAGAGGAAGGAAAAGCCACACATACAATCAGTACAGCTCCATCTGAATAAAGGTAGCGCCCCCCCCCCCCCCAAATCATTAGAGAAATGCCTGAATCGTGTTTTCTGTTGATATTTCCTAAGCACCTAGATGTAGGGAATAGAAATAAATGGCTCCCTCTGTCTCATCCCCTTCCTGCCCTCTGAGAGGCAGCTGTGAATGCGTGCTTCCTTTCTGGGGGTGCAGATACTTTCTGGACCAACCCTCAGTACCGTCTGAAGCTCCTGGAGGAGGACGATGACCCTGATGACTCGGAGGTGATTTGCAGCTTCCTGGTGGCCCTGATGCAGAAGAACCGGCGGAAGGACCGGAAGCTAGGGGCCAGTCTCTTCACCATTGGCTTCGCCATCTACGAGGTGTGCAGTCCTGATTGGCTCCAGCCCAGGAAACATACTTTCCCAGGGAGGACGCTTCCAGGGGCTTCTAGAGGGGCCCTCTGGCTTCCTCAATACCCAGTGACCCACAGAGCTCCTGGTATCAGGACCACTTGTGTTTGTAACAAGCAAAAAATACCAGGGGGGGCATTAGAGAGGCAGTGGAGCGGGCCTGGCAGAACAGGTGCCTGGGGGTCAGGCTTCCGCATGCGGGCTGCAGTTGCTGGCATTGCCTTCCGCAGGCTCCTCATCCTCATTCACATCTGAAGCATCTTCCTTTCTGTTTCTTCTCAAGGTTCCCAAAGAGGTATAGCAGCAGCAGCGGCCAGCAGTTGTGTGCAGCACTACCCAGGGGGCCCCGAGTCTGTCTGTGGCTCGTCGAGAAGCTTCCTGGTGGGGTTTGTGGGCAGGACTGTGATAGGAGAGGGCCTTGCCTGTGTTATTTCCACTGCAGAGCAGGTGCCTCAGGGCATTGCATGACCCATGACTACCACCCCCAGGATGTGCACTTTCTCCCTCGCACCAGACACTGCACGTCACACACATGCCTTTGCACACTCACCCTCCTCCACGCTTACAGCCACACACACAGTCACACAGACGCGTTCTGAGGGTGGCTGCCCGCTTGGGATGGAGGAATCACTTCCCTCAGAACCCAGCCAAGTCCTCTAGGCCTCCTTGGGGGTCCTTCCAGCCTGAGGGGCTTCGGAGCTGAGGAGCAGCTGTTCTGGTAAGTGTCCCTGAGTGTGGGGATGACACATTTGCCATTCACTCTGAATCACAACAGAAAAGGAAGAGGAAGTGAGGTAGGGAGGCTATTTAAGCCTTGGGAGTCGGAAGTAGGGAGGTTGAAACTGTGACATGGGTGACCAGGGAGTTGGGAAGGGACCCTTGGAGGTGGCTGTGGCAGGACAGGATGTTCCTCCCGAGGGGCTCATGTGCCCTGGGCTCTCCCCATCTCTCAGATGCACGGGAACAAGCAGCACCTGCAGAAGGACTTCTTCCTGTACAACGCCTCCAAGGCCAGGAGCAAAACCTACATCAACATGCGGGAGGTGTCCCAGCGCTTCCGCCTGCCTCCCAGCGAGTACGTCATCGTGCCCTCCACCTACGAGCCCCACCAGGAGGGGGAATTCATCCTCCAGGTCTTCTCTGAAAAGAGGAACCTCTCTGAGTGAGTGCTGGCCCAGCTTTCCCACGTGTTTCTAAAAGCTCACATGGCCCACTCCAGAGGTTGAAGGCATGAGGCAGCTAGACACGTCTCCTCCAGGGTCCTTCTGCTGCTCCTGAGCCACTGGCCACATTACCCCCATTCATTCATTCATCCATTCTGTGATATTTATTGAGCACCTACTATGTTCCAGGCACTGTCCTAGGCACTAAGGATAGAGTAGTGAAGTAAACAGAAAGAAATCCCTGCCTTCATGGAGCTTAATATTCTAACATGAGACAATAATGGATAGGAAAAACATATGTAGCATGTTAGATTTGGAGAGGTGATATGGAGCAAAAATAAAGTAGGGAAGAGGGATAGGAGGTGTTGGGGATGCTTGAAATTTTAGGTTAGCATGGCCAGGAAAGCCACATCCTGTCCCTGGCCACCACAGATGAGCTCATAGCCCCTGCCACTCTGATCTCTGTCCTTGGAAGATGCACCAGGTCCATGGGTAGGTGGCTGGGTCATGCCTTTGGGGGGCTCTGAGCAATACTAACAAGAACCTGCGTGCCTGGGCTTGGCTGTCGGGGATGGTGCTGACATGGGGCTGGTTCCTGGGGTTGGGGTGTTCCAGGGGTTCTCTAGAGGCTGGTTCTGGCTTGGCTGCCAGGAAGCCGTGCACCAGAGCAAACCGTCCACGGGCCTCCTGCTTGCTTCTGGTGACACTGAGACCCCACATGTCTGTATTCCTCACAGGGAAGTTGAAAATACCATCTCCGTGGATCGGCCAGTGGTGAGTGGTTTAGATCTTCTGTGCGAAAAGTCCAGAGGGTCCCCTTCCCTGACCATGCAGGGGACAGATGGTGCAGGGGAGAATGGGCACTGGCAGAGGGAATGGGAGTCTGGGCTGTGCTGAGCAGTCCCTCCTTGGCACTGCAAATCCTACTTTGGCATGGCCAGAAGTAATCGGCCTTAAGCACCGGGGGCCATTGAGGCAGTTCAGGGGCTGGGAAATATGGAAGAGGGTCCTGGAAAGGAGAAGCAATTTGAACAATCGGAGGGAACAAGGCCACAGGAAGGGATGACAAGAGCCGCAGCGAACACTGGATTCTGAGACTGGATAACATTGGATTTCACACATAGAGAAAAGAAAGTAAGCTGGTGCCGGACCTGGTGTTGACACTTGGATCCTCCACTTACCAGCGGGGTGACCTGGACAATTTCTGTAATCCCTCTCACTCAGTTTCCTACTCAGTAAAACGGGGATGATAATGTGCCTTGCAAGGCTTTTGTGAGGCTTCATCAATGAGGTGATGTATGTGAAGTGTCTGGCACAGCATGGGCACTCAAACAGAGGTGCTTTTTCACACTTTACACCTTACAAGGTACTTTTCACATGTGTCATCGCGATACTTGCAAGGTTGCTGAGAGGTAGATGGGGTTATAATCCCTGGTGTTCAAGAAAGGAAGCAGAGGCTCAATGGGGTTGAATGACTTCTCTGAGTTCACAGAGCTCAGTAAGTGGCAGGGTTGGAACTCACATTCAGACTCTCTGACTCCAGACTTAGGTTTTTCCGCACCTCCACGCTGAGGCCAGCCCCAGGCAGTGAGAAGCCCAAAGTCCGAAGCACAGAGTGCTGTGTGTTGGGCTCTGTGTGTTGAGGAGTCTTGTGACTGCCTTGGGGCTTTGGGCTGTAGTCAGCTGACAGTCCTTTGTGCTCTGTGGGGATGACGTAGGCCAATGGGAGGACAAATGCCCCTCTGAACTGTCTTCTGGGCAGTGACAGTCATGGTCATAATCCTGACCCTGAGCCAGTGCCAGGTCTCCAAGTGCCTTCTGAATGACCACAGGCGATTGGTTTTAGTGGTAGGTGTGTGGGGATCTGTTCTGGTCATCTGGATGCTGGTCATCGGTGTGCAGTATTGATCAGGACCTGCAAACCCAAAAGCTTATGGGAGCTGGCACGTCACGTGAGTAGAGCAGGCAGGTGCAGGGGTTTTGATGTCCCTGCACTGACACAGTTGTCTGCAGTTC
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Task1_train_20594
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Here is a mutation in CAPN3 (calpain 3) on Chromosome 15. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Autosomal recessive limb-girdle muscular dystrophy
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TGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCATCATGCGCGTGTAGGGGGCAGTTAAAAAGCAGAAGTAAGAAAGATTGCCTAGGGAGGCAGGAAGGGTGAGGTGAGAGGAGAAGAGGCCCAGGACCAGATTCTAGTCACCAACAGCGTTTAAGGGGCAGGTAAGGAAAACAAAACCATCAGCAAAGACTGAGAATGAAAGCCCAGAGAGGAAGGAAAAGCCACACATACAATCAGTACAGCTCCATCTGAATAAAGGTAGCGCCCCCCCCCCCCCCAAATCATTAGAGAAATGCCTGAATCGTGTTTTCTGTTGATATTTCCTAAGCACCTAGATGTAGGGAATAGAAATAAATGGCTCCCTCTGTCTCATCCCCTTCCTGCCCTCTGAGAGGCAGCTGTGAATGCGTGCTTCCTTTCTGGGGGTGCAGATACTTTCTGGACCAACCCTCAGTACCGTCTGAAGCTCCTGGAGGAGGACGATGACCCTGATGACTCGGAGGTGATTTGCAGCTTCCTGGTGGCCCTGATGCAGAAGAACCGGCGGAAGGACCGGAAGCTAGGGGCCAGTCTCTTCACCATTGGCTTCGCCATCTACGAGGTGTGCAGTCCTGATTGGCTCCAGCCCAGGAAACATACTTTCCCAGGGAGGACGCTTCCAGGGGCTTCTAGAGGGGCCCTCTGGCTTCCTCAATACCCAGTGACCCACAGAGCTCCTGGTATCAGGACCACTTGTGTTTGTAACAAGCAAAAAATACCAGGGGGGGCATTAGAGAGGCAGTGGAGCGGGCCTGGCAGAACAGGTGCCTGGGGGTCAGGCTTCCGCATGCGGGCTGCAGTTGCTGGCATTGCCTTCCGCAGGCTCCTCATCCTCATTCACATCTGAAGCATCTTCCTTTCTGTTTCTTCTCAAGGTTCCCAAAGAGGTATAGCAGCAGCAGCGGCCAGCAGTTGTGTGCAGCACTACCCAGGGGGCCCCGAGTCTGTCTGTGGCTCGTCGAGAAGCTTCCTGGTGGGGTTTGTGGGCAGGACTGTGATAGGAGAGGGCCTTGCCTGTGTTATTTCCACTGCAGAGCAGGTGCCTCAGGGCATTGCATGACCCATGACTACCACCCCCAGGATGTGCACTTTCTCCCTCGCACCAGACACTGCACGTCACACACATGCCTTTGCACACTCACCCTCCTCCACGCTTACAGCCACACACACAGTCACACAGACGCGTTCTGAGGGTGGCTGCCCGCTTGGGATGGAGGAATCACTTCCCTCAGAACCCAGCCAAGTCCTCTAGGCCTCCTTGGGGGTCCTTCCAGCCTGAGGGGCTTCGGAGCTGAGGAGCAGCTGTTCTGGTAAGTGTCCCTGAGTGTGGGGATGACACATTTGCCATTCACTCTGAATCACAACAGAAAAGGAAGAGGAAGTGAGGTAGGGAGGCTATTTAAGCCTTGGGAGTCGGAAGTAGGGAGGTTGAAACTGTGACATGGGTGACCAGGGAGTTGGGAAGGGACCCTTGGAGGTGGCTGTGGCAGGACAGGATGTTCCTCCCGAGGGGCTCATGTGCCCTGGGCTCTCCCCATCTCTCAGATGCACGGGAACAAGCAGCACCTGCAGAAGGACTTCTTCCTGTACAACGCCTCCAAGGCCAGGAGCAAAACCTACATCAACATGCGGGAGGTGTCCCAGCGCTTCCGCCTGCCTCCCAGCGAGTACGTCATCGTGCCCTCCACCTACGAGCCCCACCAGGAGGGGGAATTCATCCTCCGGGTCTTCTCTGAAAAGAGGAACCTCTCTGAGTGAGTGCTGGCCCAGCTTTCCCACGTGTTTCTAAAAGCTCACATGGCCCACTCCAGAGGTTGAAGGCATGAGGCAGCTAGACACGTCTCCTCCAGGGTCCTTCTGCTGCTCCTGAGCCACTGGCCACATTACCCCCATTCATTCATTCATCCATTCTGTGATATTTATTGAGCACCTACTATGTTCCAGGCACTGTCCTAGGCACTAAGGATAGAGTAGTGAAGTAAACAGAAAGAAATCCCTGCCTTCATGGAGCTTAATATTCTAACATGAGACAATAATGGATAGGAAAAACATATGTAGCATGTTAGATTTGGAGAGGTGATATGGAGCAAAAATAAAGTAGGGAAGAGGGATAGGAGGTGTTGGGGATGCTTGAAATTTTAGGTTAGCATGGCCAGGAAAGCCACATCCTGTCCCTGGCCACCACAGATGAGCTCATAGCCCCTGCCACTCTGATCTCTGTCCTTGGAAGATGCACCAGGTCCATGGGTAGGTGGCTGGGTCATGCCTTTGGGGGGCTCTGAGCAATACTAACAAGAACCTGCGTGCCTGGGCTTGGCTGTCGGGGATGGTGCTGACATGGGGCTGGTTCCTGGGGTTGGGGTGTTCCAGGGGTTCTCTAGAGGCTGGTTCTGGCTTGGCTGCCAGGAAGCCGTGCACCAGAGCAAACCGTCCACGGGCCTCCTGCTTGCTTCTGGTGACACTGAGACCCCACATGTCTGTATTCCTCACAGGGAAGTTGAAAATACCATCTCCGTGGATCGGCCAGTGGTGAGTGGTTTAGATCTTCTGTGCGAAAAGTCCAGAGGGTCCCCTTCCCTGACCATGCAGGGGACAGATGGTGCAGGGGAGAATGGGCACTGGCAGAGGGAATGGGAGTCTGGGCTGTGCTGAGCAGTCCCTCCTTGGCACTGCAAATCCTACTTTGGCATGGCCAGAAGTAATCGGCCTTAAGCACCGGGGGCCATTGAGGCAGTTCAGGGGCTGGGAAATATGGAAGAGGGTCCTGGAAAGGAGAAGCAATTTGAACAATCGGAGGGAACAAGGCCACAGGAAGGGATGACAAGAGCCGCAGCGAACACTGGATTCTGAGACTGGATAACATTGGATTTCACACATAGAGAAAAGAAAGTAAGCTGGTGCCGGACCTGGTGTTGACACTTGGATCCTCCACTTACCAGCGGGGTGACCTGGACAATTTCTGTAATCCCTCTCACTCAGTTTCCTACTCAGTAAAACGGGGATGATAATGTGCCTTGCAAGGCTTTTGTGAGGCTTCATCAATGAGGTGATGTATGTGAAGTGTCTGGCACAGCATGGGCACTCAAACAGAGGTGCTTTTTCACACTTTACACCTTACAAGGTACTTTTCACATGTGTCATCGCGATACTTGCAAGGTTGCTGAGAGGTAGATGGGGTTATAATCCCTGGTGTTCAAGAAAGGAAGCAGAGGCTCAATGGGGTTGAATGACTTCTCTGAGTTCACAGAGCTCAGTAAGTGGCAGGGTTGGAACTCACATTCAGACTCTCTGACTCCAGACTTAGGTTTTTCCGCACCTCCACGCTGAGGCCAGCCCCAGGCAGTGAGAAGCCCAAAGTCCGAAGCACAGAGTGCTGTGTGTTGGGCTCTGTGTGTTGAGGAGTCTTGTGACTGCCTTGGGGCTTTGGGCTGTAGTCAGCTGACAGTCCTTTGTGCTCTGTGGGGATGACGTAGGCCAATGGGAGGACAAATGCCCCTCTGAACTGTCTTCTGGGCAGTGACAGTCATGGTCATAATCCTGACCCTGAGCCAGTGCCAGGTCTCCAAGTGCCTTCTGAATGACCACAGGCGATTGGTTTTAGTGGTAGGTGTGTGGGGATCTGTTCTGGTCATCTGGATGCTGGTCATCGGTGTGCAGTATTGATCAGGACCTGCAAACCCAAAAGCTTATGGGAGCTGGCACGTCACGTGAGTAGAGCAGGCAGGTGCAGGGGTTTTGATGTCCCTGCACTGACACAGTTGTCTGCAGTTC
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TGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCATCATGCGCGTGTAGGGGGCAGTTAAAAAGCAGAAGTAAGAAAGATTGCCTAGGGAGGCAGGAAGGGTGAGGTGAGAGGAGAAGAGGCCCAGGACCAGATTCTAGTCACCAACAGCGTTTAAGGGGCAGGTAAGGAAAACAAAACCATCAGCAAAGACTGAGAATGAAAGCCCAGAGAGGAAGGAAAAGCCACACATACAATCAGTACAGCTCCATCTGAATAAAGGTAGCGCCCCCCCCCCCCCCAAATCATTAGAGAAATGCCTGAATCGTGTTTTCTGTTGATATTTCCTAAGCACCTAGATGTAGGGAATAGAAATAAATGGCTCCCTCTGTCTCATCCCCTTCCTGCCCTCTGAGAGGCAGCTGTGAATGCGTGCTTCCTTTCTGGGGGTGCAGATACTTTCTGGACCAACCCTCAGTACCGTCTGAAGCTCCTGGAGGAGGACGATGACCCTGATGACTCGGAGGTGATTTGCAGCTTCCTGGTGGCCCTGATGCAGAAGAACCGGCGGAAGGACCGGAAGCTAGGGGCCAGTCTCTTCACCATTGGCTTCGCCATCTACGAGGTGTGCAGTCCTGATTGGCTCCAGCCCAGGAAACATACTTTCCCAGGGAGGACGCTTCCAGGGGCTTCTAGAGGGGCCCTCTGGCTTCCTCAATACCCAGTGACCCACAGAGCTCCTGGTATCAGGACCACTTGTGTTTGTAACAAGCAAAAAATACCAGGGGGGGCATTAGAGAGGCAGTGGAGCGGGCCTGGCAGAACAGGTGCCTGGGGGTCAGGCTTCCGCATGCGGGCTGCAGTTGCTGGCATTGCCTTCCGCAGGCTCCTCATCCTCATTCACATCTGAAGCATCTTCCTTTCTGTTTCTTCTCAAGGTTCCCAAAGAGGTATAGCAGCAGCAGCGGCCAGCAGTTGTGTGCAGCACTACCCAGGGGGCCCCGAGTCTGTCTGTGGCTCGTCGAGAAGCTTCCTGGTGGGGTTTGTGGGCAGGACTGTGATAGGAGAGGGCCTTGCCTGTGTTATTTCCACTGCAGAGCAGGTGCCTCAGGGCATTGCATGACCCATGACTACCACCCCCAGGATGTGCACTTTCTCCCTCGCACCAGACACTGCACGTCACACACATGCCTTTGCACACTCACCCTCCTCCACGCTTACAGCCACACACACAGTCACACAGACGCGTTCTGAGGGTGGCTGCCCGCTTGGGATGGAGGAATCACTTCCCTCAGAACCCAGCCAAGTCCTCTAGGCCTCCTTGGGGGTCCTTCCAGCCTGAGGGGCTTCGGAGCTGAGGAGCAGCTGTTCTGGTAAGTGTCCCTGAGTGTGGGGATGACACATTTGCCATTCACTCTGAATCACAACAGAAAAGGAAGAGGAAGTGAGGTAGGGAGGCTATTTAAGCCTTGGGAGTCGGAAGTAGGGAGGTTGAAACTGTGACATGGGTGACCAGGGAGTTGGGAAGGGACCCTTGGAGGTGGCTGTGGCAGGACAGGATGTTCCTCCCGAGGGGCTCATGTGCCCTGGGCTCTCCCCATCTCTCAGATGCACGGGAACAAGCAGCACCTGCAGAAGGACTTCTTCCTGTACAACGCCTCCAAGGCCAGGAGCAAAACCTACATCAACATGCGGGAGGTGTCCCAGCGCTTCCGCCTGCCTCCCAGCGAGTACGTCATCGTGCCCTCCACCTACGAGCCCCACCAGGAGGGGGAATTCATCCTCCAGGTCTTCTCTGAAAAGAGGAACCTCTCTGAGTGAGTGCTGGCCCAGCTTTCCCACGTGTTTCTAAAAGCTCACATGGCCCACTCCAGAGGTTGAAGGCATGAGGCAGCTAGACACGTCTCCTCCAGGGTCCTTCTGCTGCTCCTGAGCCACTGGCCACATTACCCCCATTCATTCATTCATCCATTCTGTGATATTTATTGAGCACCTACTATGTTCCAGGCACTGTCCTAGGCACTAAGGATAGAGTAGTGAAGTAAACAGAAAGAAATCCCTGCCTTCATGGAGCTTAATATTCTAACATGAGACAATAATGGATAGGAAAAACATATGTAGCATGTTAGATTTGGAGAGGTGATATGGAGCAAAAATAAAGTAGGGAAGAGGGATAGGAGGTGTTGGGGATGCTTGAAATTTTAGGTTAGCATGGCCAGGAAAGCCACATCCTGTCCCTGGCCACCACAGATGAGCTCATAGCCCCTGCCACTCTGATCTCTGTCCTTGGAAGATGCACCAGGTCCATGGGTAGGTGGCTGGGTCATGCCTTTGGGGGGCTCTGAGCAATACTAACAAGAACCTGCGTGCCTGGGCTTGGCTGTCGGGGATGGTGCTGACATGGGGCTGGTTCCTGGGGTTGGGGTGTTCCAGGGGTTCTCTAGAGGCTGGTTCTGGCTTGGCTGCCAGGAAGCCGTGCACCAGAGCAAACCGTCCACGGGCCTCCTGCTTGCTTCTGGTGACACTGAGACCCCACATGTCTGTATTCCTCACAGGGAAGTTGAAAATACCATCTCCGTGGATCGGCCAGTGGTGAGTGGTTTAGATCTTCTGTGCGAAAAGTCCAGAGGGTCCCCTTCCCTGACCATGCAGGGGACAGATGGTGCAGGGGAGAATGGGCACTGGCAGAGGGAATGGGAGTCTGGGCTGTGCTGAGCAGTCCCTCCTTGGCACTGCAAATCCTACTTTGGCATGGCCAGAAGTAATCGGCCTTAAGCACCGGGGGCCATTGAGGCAGTTCAGGGGCTGGGAAATATGGAAGAGGGTCCTGGAAAGGAGAAGCAATTTGAACAATCGGAGGGAACAAGGCCACAGGAAGGGATGACAAGAGCCGCAGCGAACACTGGATTCTGAGACTGGATAACATTGGATTTCACACATAGAGAAAAGAAAGTAAGCTGGTGCCGGACCTGGTGTTGACACTTGGATCCTCCACTTACCAGCGGGGTGACCTGGACAATTTCTGTAATCCCTCTCACTCAGTTTCCTACTCAGTAAAACGGGGATGATAATGTGCCTTGCAAGGCTTTTGTGAGGCTTCATCAATGAGGTGATGTATGTGAAGTGTCTGGCACAGCATGGGCACTCAAACAGAGGTGCTTTTTCACACTTTACACCTTACAAGGTACTTTTCACATGTGTCATCGCGATACTTGCAAGGTTGCTGAGAGGTAGATGGGGTTATAATCCCTGGTGTTCAAGAAAGGAAGCAGAGGCTCAATGGGGTTGAATGACTTCTCTGAGTTCACAGAGCTCAGTAAGTGGCAGGGTTGGAACTCACATTCAGACTCTCTGACTCCAGACTTAGGTTTTTCCGCACCTCCACGCTGAGGCCAGCCCCAGGCAGTGAGAAGCCCAAAGTCCGAAGCACAGAGTGCTGTGTGTTGGGCTCTGTGTGTTGAGGAGTCTTGTGACTGCCTTGGGGCTTTGGGCTGTAGTCAGCTGACAGTCCTTTGTGCTCTGTGGGGATGACGTAGGCCAATGGGAGGACAAATGCCCCTCTGAACTGTCTTCTGGGCAGTGACAGTCATGGTCATAATCCTGACCCTGAGCCAGTGCCAGGTCTCCAAGTGCCTTCTGAATGACCACAGGCGATTGGTTTTAGTGGTAGGTGTGTGGGGATCTGTTCTGGTCATCTGGATGCTGGTCATCGGTGTGCAGTATTGATCAGGACCTGCAAACCCAAAAGCTTATGGGAGCTGGCACGTCACGTGAGTAGAGCAGGCAGGTGCAGGGGTTTTGATGTCCCTGCACTGACACAGTTGTCTGCAGTTC
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Task1_train_20595
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Here is a genetic alteration in CAPN3 (calpain 3) on Chromosome 15. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Muscular dystrophy, limb-girdle, autosomal dominant 4
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TGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCATCATGCGCGTGTAGGGGGCAGTTAAAAAGCAGAAGTAAGAAAGATTGCCTAGGGAGGCAGGAAGGGTGAGGTGAGAGGAGAAGAGGCCCAGGACCAGATTCTAGTCACCAACAGCGTTTAAGGGGCAGGTAAGGAAAACAAAACCATCAGCAAAGACTGAGAATGAAAGCCCAGAGAGGAAGGAAAAGCCACACATACAATCAGTACAGCTCCATCTGAATAAAGGTAGCGCCCCCCCCCCCCCCAAATCATTAGAGAAATGCCTGAATCGTGTTTTCTGTTGATATTTCCTAAGCACCTAGATGTAGGGAATAGAAATAAATGGCTCCCTCTGTCTCATCCCCTTCCTGCCCTCTGAGAGGCAGCTGTGAATGCGTGCTTCCTTTCTGGGGGTGCAGATACTTTCTGGACCAACCCTCAGTACCGTCTGAAGCTCCTGGAGGAGGACGATGACCCTGATGACTCGGAGGTGATTTGCAGCTTCCTGGTGGCCCTGATGCAGAAGAACCGGCGGAAGGACCGGAAGCTAGGGGCCAGTCTCTTCACCATTGGCTTCGCCATCTACGAGGTGTGCAGTCCTGATTGGCTCCAGCCCAGGAAACATACTTTCCCAGGGAGGACGCTTCCAGGGGCTTCTAGAGGGGCCCTCTGGCTTCCTCAATACCCAGTGACCCACAGAGCTCCTGGTATCAGGACCACTTGTGTTTGTAACAAGCAAAAAATACCAGGGGGGGCATTAGAGAGGCAGTGGAGCGGGCCTGGCAGAACAGGTGCCTGGGGGTCAGGCTTCCGCATGCGGGCTGCAGTTGCTGGCATTGCCTTCCGCAGGCTCCTCATCCTCATTCACATCTGAAGCATCTTCCTTTCTGTTTCTTCTCAAGGTTCCCAAAGAGGTATAGCAGCAGCAGCGGCCAGCAGTTGTGTGCAGCACTACCCAGGGGGCCCCGAGTCTGTCTGTGGCTCGTCGAGAAGCTTCCTGGTGGGGTTTGTGGGCAGGACTGTGATAGGAGAGGGCCTTGCCTGTGTTATTTCCACTGCAGAGCAGGTGCCTCAGGGCATTGCATGACCCATGACTACCACCCCCAGGATGTGCACTTTCTCCCTCGCACCAGACACTGCACGTCACACACATGCCTTTGCACACTCACCCTCCTCCACGCTTACAGCCACACACACAGTCACACAGACGCGTTCTGAGGGTGGCTGCCCGCTTGGGATGGAGGAATCACTTCCCTCAGAACCCAGCCAAGTCCTCTAGGCCTCCTTGGGGGTCCTTCCAGCCTGAGGGGCTTCGGAGCTGAGGAGCAGCTGTTCTGGTAAGTGTCCCTGAGTGTGGGGATGACACATTTGCCATTCACTCTGAATCACAACAGAAAAGGAAGAGGAAGTGAGGTAGGGAGGCTATTTAAGCCTTGGGAGTCGGAAGTAGGGAGGTTGAAACTGTGACATGGGTGACCAGGGAGTTGGGAAGGGACCCTTGGAGGTGGCTGTGGCAGGACAGGATGTTCCTCCCGAGGGGCTCATGTGCCCTGGGCTCTCCCCATCTCTCAGATGCACGGGAACAAGCAGCACCTGCAGAAGGACTTCTTCCTGTACAACGCCTCCAAGGCCAGGAGCAAAACCTACATCAACATGCGGGAGGTGTCCCAGCGCTTCCGCCTGCCTCCCAGCGAGTACGTCATCGTGCCCTCCACCTACGAGCCCCACCAGGAGGGGGAATTCATCCTCCGGGTCTTCTCTGAAAAGAGGAACCTCTCTGAGTGAGTGCTGGCCCAGCTTTCCCACGTGTTTCTAAAAGCTCACATGGCCCACTCCAGAGGTTGAAGGCATGAGGCAGCTAGACACGTCTCCTCCAGGGTCCTTCTGCTGCTCCTGAGCCACTGGCCACATTACCCCCATTCATTCATTCATCCATTCTGTGATATTTATTGAGCACCTACTATGTTCCAGGCACTGTCCTAGGCACTAAGGATAGAGTAGTGAAGTAAACAGAAAGAAATCCCTGCCTTCATGGAGCTTAATATTCTAACATGAGACAATAATGGATAGGAAAAACATATGTAGCATGTTAGATTTGGAGAGGTGATATGGAGCAAAAATAAAGTAGGGAAGAGGGATAGGAGGTGTTGGGGATGCTTGAAATTTTAGGTTAGCATGGCCAGGAAAGCCACATCCTGTCCCTGGCCACCACAGATGAGCTCATAGCCCCTGCCACTCTGATCTCTGTCCTTGGAAGATGCACCAGGTCCATGGGTAGGTGGCTGGGTCATGCCTTTGGGGGGCTCTGAGCAATACTAACAAGAACCTGCGTGCCTGGGCTTGGCTGTCGGGGATGGTGCTGACATGGGGCTGGTTCCTGGGGTTGGGGTGTTCCAGGGGTTCTCTAGAGGCTGGTTCTGGCTTGGCTGCCAGGAAGCCGTGCACCAGAGCAAACCGTCCACGGGCCTCCTGCTTGCTTCTGGTGACACTGAGACCCCACATGTCTGTATTCCTCACAGGGAAGTTGAAAATACCATCTCCGTGGATCGGCCAGTGGTGAGTGGTTTAGATCTTCTGTGCGAAAAGTCCAGAGGGTCCCCTTCCCTGACCATGCAGGGGACAGATGGTGCAGGGGAGAATGGGCACTGGCAGAGGGAATGGGAGTCTGGGCTGTGCTGAGCAGTCCCTCCTTGGCACTGCAAATCCTACTTTGGCATGGCCAGAAGTAATCGGCCTTAAGCACCGGGGGCCATTGAGGCAGTTCAGGGGCTGGGAAATATGGAAGAGGGTCCTGGAAAGGAGAAGCAATTTGAACAATCGGAGGGAACAAGGCCACAGGAAGGGATGACAAGAGCCGCAGCGAACACTGGATTCTGAGACTGGATAACATTGGATTTCACACATAGAGAAAAGAAAGTAAGCTGGTGCCGGACCTGGTGTTGACACTTGGATCCTCCACTTACCAGCGGGGTGACCTGGACAATTTCTGTAATCCCTCTCACTCAGTTTCCTACTCAGTAAAACGGGGATGATAATGTGCCTTGCAAGGCTTTTGTGAGGCTTCATCAATGAGGTGATGTATGTGAAGTGTCTGGCACAGCATGGGCACTCAAACAGAGGTGCTTTTTCACACTTTACACCTTACAAGGTACTTTTCACATGTGTCATCGCGATACTTGCAAGGTTGCTGAGAGGTAGATGGGGTTATAATCCCTGGTGTTCAAGAAAGGAAGCAGAGGCTCAATGGGGTTGAATGACTTCTCTGAGTTCACAGAGCTCAGTAAGTGGCAGGGTTGGAACTCACATTCAGACTCTCTGACTCCAGACTTAGGTTTTTCCGCACCTCCACGCTGAGGCCAGCCCCAGGCAGTGAGAAGCCCAAAGTCCGAAGCACAGAGTGCTGTGTGTTGGGCTCTGTGTGTTGAGGAGTCTTGTGACTGCCTTGGGGCTTTGGGCTGTAGTCAGCTGACAGTCCTTTGTGCTCTGTGGGGATGACGTAGGCCAATGGGAGGACAAATGCCCCTCTGAACTGTCTTCTGGGCAGTGACAGTCATGGTCATAATCCTGACCCTGAGCCAGTGCCAGGTCTCCAAGTGCCTTCTGAATGACCACAGGCGATTGGTTTTAGTGGTAGGTGTGTGGGGATCTGTTCTGGTCATCTGGATGCTGGTCATCGGTGTGCAGTATTGATCAGGACCTGCAAACCCAAAAGCTTATGGGAGCTGGCACGTCACGTGAGTAGAGCAGGCAGGTGCAGGGGTTTTGATGTCCCTGCACTGACACAGTTGTCTGCAGTTC
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TGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCATCATGCGCGTGTAGGGGGCAGTTAAAAAGCAGAAGTAAGAAAGATTGCCTAGGGAGGCAGGAAGGGTGAGGTGAGAGGAGAAGAGGCCCAGGACCAGATTCTAGTCACCAACAGCGTTTAAGGGGCAGGTAAGGAAAACAAAACCATCAGCAAAGACTGAGAATGAAAGCCCAGAGAGGAAGGAAAAGCCACACATACAATCAGTACAGCTCCATCTGAATAAAGGTAGCGCCCCCCCCCCCCCCAAATCATTAGAGAAATGCCTGAATCGTGTTTTCTGTTGATATTTCCTAAGCACCTAGATGTAGGGAATAGAAATAAATGGCTCCCTCTGTCTCATCCCCTTCCTGCCCTCTGAGAGGCAGCTGTGAATGCGTGCTTCCTTTCTGGGGGTGCAGATACTTTCTGGACCAACCCTCAGTACCGTCTGAAGCTCCTGGAGGAGGACGATGACCCTGATGACTCGGAGGTGATTTGCAGCTTCCTGGTGGCCCTGATGCAGAAGAACCGGCGGAAGGACCGGAAGCTAGGGGCCAGTCTCTTCACCATTGGCTTCGCCATCTACGAGGTGTGCAGTCCTGATTGGCTCCAGCCCAGGAAACATACTTTCCCAGGGAGGACGCTTCCAGGGGCTTCTAGAGGGGCCCTCTGGCTTCCTCAATACCCAGTGACCCACAGAGCTCCTGGTATCAGGACCACTTGTGTTTGTAACAAGCAAAAAATACCAGGGGGGGCATTAGAGAGGCAGTGGAGCGGGCCTGGCAGAACAGGTGCCTGGGGGTCAGGCTTCCGCATGCGGGCTGCAGTTGCTGGCATTGCCTTCCGCAGGCTCCTCATCCTCATTCACATCTGAAGCATCTTCCTTTCTGTTTCTTCTCAAGGTTCCCAAAGAGGTATAGCAGCAGCAGCGGCCAGCAGTTGTGTGCAGCACTACCCAGGGGGCCCCGAGTCTGTCTGTGGCTCGTCGAGAAGCTTCCTGGTGGGGTTTGTGGGCAGGACTGTGATAGGAGAGGGCCTTGCCTGTGTTATTTCCACTGCAGAGCAGGTGCCTCAGGGCATTGCATGACCCATGACTACCACCCCCAGGATGTGCACTTTCTCCCTCGCACCAGACACTGCACGTCACACACATGCCTTTGCACACTCACCCTCCTCCACGCTTACAGCCACACACACAGTCACACAGACGCGTTCTGAGGGTGGCTGCCCGCTTGGGATGGAGGAATCACTTCCCTCAGAACCCAGCCAAGTCCTCTAGGCCTCCTTGGGGGTCCTTCCAGCCTGAGGGGCTTCGGAGCTGAGGAGCAGCTGTTCTGGTAAGTGTCCCTGAGTGTGGGGATGACACATTTGCCATTCACTCTGAATCACAACAGAAAAGGAAGAGGAAGTGAGGTAGGGAGGCTATTTAAGCCTTGGGAGTCGGAAGTAGGGAGGTTGAAACTGTGACATGGGTGACCAGGGAGTTGGGAAGGGACCCTTGGAGGTGGCTGTGGCAGGACAGGATGTTCCTCCCGAGGGGCTCATGTGCCCTGGGCTCTCCCCATCTCTCAGATGCACGGGAACAAGCAGCACCTGCAGAAGGACTTCTTCCTGTACAACGCCTCCAAGGCCAGGAGCAAAACCTACATCAACATGCGGGAGGTGTCCCAGCGCTTCCGCCTGCCTCCCAGCGAGTACGTCATCGTGCCCTCCACCTACGAGCCCCACCAGGAGGGGGAATTCATCCTCCAGGTCTTCTCTGAAAAGAGGAACCTCTCTGAGTGAGTGCTGGCCCAGCTTTCCCACGTGTTTCTAAAAGCTCACATGGCCCACTCCAGAGGTTGAAGGCATGAGGCAGCTAGACACGTCTCCTCCAGGGTCCTTCTGCTGCTCCTGAGCCACTGGCCACATTACCCCCATTCATTCATTCATCCATTCTGTGATATTTATTGAGCACCTACTATGTTCCAGGCACTGTCCTAGGCACTAAGGATAGAGTAGTGAAGTAAACAGAAAGAAATCCCTGCCTTCATGGAGCTTAATATTCTAACATGAGACAATAATGGATAGGAAAAACATATGTAGCATGTTAGATTTGGAGAGGTGATATGGAGCAAAAATAAAGTAGGGAAGAGGGATAGGAGGTGTTGGGGATGCTTGAAATTTTAGGTTAGCATGGCCAGGAAAGCCACATCCTGTCCCTGGCCACCACAGATGAGCTCATAGCCCCTGCCACTCTGATCTCTGTCCTTGGAAGATGCACCAGGTCCATGGGTAGGTGGCTGGGTCATGCCTTTGGGGGGCTCTGAGCAATACTAACAAGAACCTGCGTGCCTGGGCTTGGCTGTCGGGGATGGTGCTGACATGGGGCTGGTTCCTGGGGTTGGGGTGTTCCAGGGGTTCTCTAGAGGCTGGTTCTGGCTTGGCTGCCAGGAAGCCGTGCACCAGAGCAAACCGTCCACGGGCCTCCTGCTTGCTTCTGGTGACACTGAGACCCCACATGTCTGTATTCCTCACAGGGAAGTTGAAAATACCATCTCCGTGGATCGGCCAGTGGTGAGTGGTTTAGATCTTCTGTGCGAAAAGTCCAGAGGGTCCCCTTCCCTGACCATGCAGGGGACAGATGGTGCAGGGGAGAATGGGCACTGGCAGAGGGAATGGGAGTCTGGGCTGTGCTGAGCAGTCCCTCCTTGGCACTGCAAATCCTACTTTGGCATGGCCAGAAGTAATCGGCCTTAAGCACCGGGGGCCATTGAGGCAGTTCAGGGGCTGGGAAATATGGAAGAGGGTCCTGGAAAGGAGAAGCAATTTGAACAATCGGAGGGAACAAGGCCACAGGAAGGGATGACAAGAGCCGCAGCGAACACTGGATTCTGAGACTGGATAACATTGGATTTCACACATAGAGAAAAGAAAGTAAGCTGGTGCCGGACCTGGTGTTGACACTTGGATCCTCCACTTACCAGCGGGGTGACCTGGACAATTTCTGTAATCCCTCTCACTCAGTTTCCTACTCAGTAAAACGGGGATGATAATGTGCCTTGCAAGGCTTTTGTGAGGCTTCATCAATGAGGTGATGTATGTGAAGTGTCTGGCACAGCATGGGCACTCAAACAGAGGTGCTTTTTCACACTTTACACCTTACAAGGTACTTTTCACATGTGTCATCGCGATACTTGCAAGGTTGCTGAGAGGTAGATGGGGTTATAATCCCTGGTGTTCAAGAAAGGAAGCAGAGGCTCAATGGGGTTGAATGACTTCTCTGAGTTCACAGAGCTCAGTAAGTGGCAGGGTTGGAACTCACATTCAGACTCTCTGACTCCAGACTTAGGTTTTTCCGCACCTCCACGCTGAGGCCAGCCCCAGGCAGTGAGAAGCCCAAAGTCCGAAGCACAGAGTGCTGTGTGTTGGGCTCTGTGTGTTGAGGAGTCTTGTGACTGCCTTGGGGCTTTGGGCTGTAGTCAGCTGACAGTCCTTTGTGCTCTGTGGGGATGACGTAGGCCAATGGGAGGACAAATGCCCCTCTGAACTGTCTTCTGGGCAGTGACAGTCATGGTCATAATCCTGACCCTGAGCCAGTGCCAGGTCTCCAAGTGCCTTCTGAATGACCACAGGCGATTGGTTTTAGTGGTAGGTGTGTGGGGATCTGTTCTGGTCATCTGGATGCTGGTCATCGGTGTGCAGTATTGATCAGGACCTGCAAACCCAAAAGCTTATGGGAGCTGGCACGTCACGTGAGTAGAGCAGGCAGGTGCAGGGGTTTTGATGTCCCTGCACTGACACAGTTGTCTGCAGTTC
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Task1_train_20596
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A variant was discovered in gene CAPN3 (calpain 3), Chromosome 15. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2A
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GCAAAGGCTGAGACAGAACCAGCTTGAGAGCGGAGGCGCAACTCTTGTCTCCTGGTGGCCTTGAGCATTTCACAATAGGGGGATAAAGGATAGGAGCAGAAAAGTGGGGCTGACTTCAGAAATGGGGTCCTCTAGAGCTCACGGGAGGGTGTTAGATTGGAGTGGGAGCTTAGTGGAGGTGAGCCTTAGAGGCAAAAGTCTCCAGACCAATCCAGGGCCCCTCTTCTATCCGGGGGCCCCTCTTCTATCCAGGGCCCCTCTTCTGTCTGGGAGCCCCTCTTCTATCTGGGGCCTCATGCAGTGGGGCCTAGGGGAGGTTCTCTGAGGACTTGGCCTTGATGACAGGGTGGCTGGAGGAATCAGAACGGTCAGACCTTCTTTGACCTGCGGGCACCTTTAGTTGGAATGGTCAGGCCTGGGATGGTGGAGGGGGCTCTTGCAGGTGGGGACTGGGGTGGCGGGGAGGAGGCTGTATGGCCGCCATATCTCCTTTGGCTGGGGGCGTCAGGGCTGGAGAGGTGTGAAGAGTCCCTGAGGCCTCGATGCATCTCACTCCAGCTCACCAGGTCTGCATTTGCCCGTCCCCAGCTCCTGCTGCCACCTCCGGCCGTTTTAGGCACTTGGCTCCCTTGGCCCAGAGGAGCTTGCCTCACAGGCCTGTGCACCTCTGACCCCTGTGAACCAGTTTTCCTTTGTGCCTCCACAGCCACAGCCTGGCAGCTCTGATCAGGAAAGTGAGGAACAGCAACAATTCCGGAACATTTTCAAGCAGATAGCAGGAGATGTGAGTACCTCCAAGCCCAGGACGCCCACAGGTGCTTCCTTCTCTCCTGGATTAACTGCTCAGATTACCAATTATTTCATTATTGTTTGGTAGAGGTCACTTTGGACTTTGGTGGAGCCAGGGGATGTGTGCGTAGCACACAAATCCACAAGCCCTTGAGTTTTGGACTGCCACGTCTGCTGGGGGGCTCAGAGGCCTTTTTGCTCTGAGCTGCCCACGGTGGTCCTGATAGCTGAGGTGCAGTATCTGGCCCCCTGTCTTCCTCAGAAAAGCCCCAGCTTCCCATGACATAATAGCACCGACAGGGATTTTACAAACACAGCCAGGTGGAATTTGTTTTGCAAAGTGTCCGCGCCAGGAGCTGCTGTACTCCTGAACCATGACCCTCCTCTCCCTTCCTCCTCAGGACATGGAGATCTGTGCAGATGAGCTCAAGAAGGTCCTTAACACAGTCGTGAACAAACGTGAGTTGCTCAAACCAAATGGGGGTGGGGTGGGTGGGGAGTCCCGTTGTCTCAAAGCAGCTCCTCACTCTTCTCCATCCCCCCAGACAAGGACCTGAAGACACACGGGTTCACACTGGAGTCCTGCCGTAGCATGATTGCGCTCATGGATGTATCCTTCCTGCCGCCCCTTCCCGACCCTCTGTCATCAGCCCACGGGGGCCAAGGCAACATACAGGGTGCCCAGTCAGGCAAAGGGCCCTAATTTGTGCCCAGGGAAACTTAAGGAGACCCTGATTCAGAACATCTTGGATACTCGTCTGAAAGGGGTTGTTAGAGGCGGAAGGGGAGGATGTTGGGTTGTAACTGCCCTAACCCCTGTGCTTCTCTCAGGCCTGGGATCCTGCCCAAGCAAAAGTGGTCCTTAGGAGAGCGGCTCCTGGGTTACAGAGTAGGCGCAATCTCTGACTGGTGGTGGAGTGGAGGGGAGGGTTAAATAGTACAACAGGGCAGTGGGTAGGACAGCCCGGAGTCTCCTAGACCCTCCCTCCAAATCCAGGGGGATTTTGCTGTGTGCTGTGTAGCCCTGACCTCCCTCCTCCAGACAGATGGCTCTGGAAAGCTCAACCTGCAGGAGTTCCACCACCTCTGGAACAAGATTAAGGCCTGGCAGGTGGGAAGAGAAAATGAAGCGTGGGAGTCAAGAATGGGGTTGATTTGGAGATTCAGTGTGTGACCTCCATCCTCAAATTTTCTATTGCCAGAAAATTTTCAAACACTATGACACAGACCAGTCCGGCACCATCAACAGCTACGAGATGCGAAATGCAGTCAACGACGCAGGTGCTGAGAAGGAAGGGGTGGCAGGGATGTGGACCCGAGACGGTGGGAGCAGGAATGGGAGGGGACTAGGCTACTAGGGCCCCACTAGAGAAAGGAGAGGGAAAGGGCTTCTCACTTTCCCTTCCCAGGTCACAGAGTGGCCGAGAGGCAGGGAAAATAGAAGGCAGGCCCAAGGCCTCCAGCTCCACGTCCACCTCTAACATGGTCCCCTCCACAGGATTCCACCTCAACAACCAGCTCTATGACATCATTACCATGCGGTACGCAGACAAACACATGAACATCGACTTTGACAGTTTCATCTGCTGCTTCGTTAGGCTGGAGGGCATGTTCAGTAAGTGGGAGAGGGGGGCTGCCCTCTGCTCTCTTGCAGGGGCAGTTGTGGCAACAGGCATCTCACCTGATAATCTCCAGTCTGCTCCATCCAGGCTGAACAAGGGCCAATGACCTCTTTAGGCCCAGAATGGGATGGCAAAGGGAGGGTTACTGGTGATTCTCTGCCTGCACATCTTTGTGCTGATGAGGGACAGCACTGGGCACATGGTCCTCTGAGGGGAAGTTACAGTAGTAGAGGCGGAGTGCGCCTGTAACTGGCCTCTGGCCTGTGCATTCTTTCACAGGAGCTTTTCATGCATTTGACAAGGATGGAGATGGTATCATCAAGCTCAACGTTCTGGAGGTAAAGCATAGGCACAGCACATTCCCCCTACACATTAAAACTCAAGGTGGAGGGGTCAACGGGGCGGACTGGACCCAGGGTGTGCTCCTCATTTCCACACAGTGGTGGAGGGAAGGGATAGGAACAGAACATGGAGGGAGGCTCAGCAGGCTCCCAGGACACATGCACTTGAGGCCCAAAAGGACCTCTGCTCCCCCAGTCACTTGATGCGGGAAAACATGCACCTTCTTAGGGAAGATCTAGGAGAAAGGAAACAGTAAGCCACTGCTTCTTGGAAAATCTTCTGGGGGTCTGACCTGCTGGGACTGTTCCCTTTCCTCTTGCCCCGTAAGATTCCTAGGGCGGGGGGGGGGGGGGTCACTCTTTTCTGATCTACATTCTGATCTTGGGACTTCTTTCAGTGGCTGCAGCTCACCATGTATGCCTGAACCAGGCTGGCCTCATCCAAAGCCATGCAGGATCACTCAGGATTTCAGTTTCACCCTCTATTTCCAAAGCCATTTACCTCAAAGGACCCAGCAGCTACACCCCTACAGGCTTCCAGGCACCTCATCAGTCATGCTCCTCCTCCATTTTACCCCCTACCCATCCTTGATCGGTCATGCCTAGCCTGACCCTTTAGTAAAGCAATGAGGTAGGAAGAACAAACCCTTGTCCCTTTGCCATGTGGAGGAAAGTGCCTGCCTCTGGTCCGAGCCGCCTCGGTTCTGAAGCGAGTGCTCCTGCTTACCTTGCTCTAGGCTGTCTGCAGAAGCACCTGCCGGTGGCACTCAGCACCTCCTTGTGCTAGAGCCCTCCATCACCTTCACGCTGTCCCACCATGGGCCAGGAACCAAACCAGCACTGGGTTCTACTGCTGTGGGGTAAACTAACTCAGTGGAATAGGGCTGGTTACTTTGGGCTGTCCAACTCATAAGTTTGGCTGCATTTTGAAAAAAGCTGATCTAAATAAAGGCATGTGTATGGCTGGTCCCCTTGTGTTTTGTTGTCTCACATTTAGATATCAGCCATGCATGACTGAATGGCTTCCAATCATATACTCACCTATCACCTACAAGAGAACAATGAAAAACACACACAAAAACAAAATCTTGAATTTTGTAATCATGCCTATTGCTATTTCTTGAGCATAAGAATGGCTCAGATACTTTCCAAGACATAAAAGGAAGGCAGAGGAATAGTTGTTGCTGTAAAAGACATCAAGAATAAATGGGTCATGTACAACGGGAGGGGCCGGTTACCTGAATAATGGAGTGGAGATTGAGCTATCCTAGCTCCTCTGCTCACTAACTGACCTGTCGCATGACCGTGGACAAAACCCTGAACGCAGCTGTTTGTTTGCTAAAC
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GCAAAGGCTGAGACAGAACCAGCTTGAGAGCGGAGGCGCAACTCTTGTCTCCTGGTGGCCTTGAGCATTTCACAATAGGGGGATAAAGGATAGGAGCAGAAAAGTGGGGCTGACTTCAGAAATGGGGTCCTCTAGAGCTCACGGGAGGGTGTTAGATTGGAGTGGGAGCTTAGTGGAGGTGAGCCTTAGAGGCAAAAGTCTCCAGACCAATCCAGGGCCCCTCTTCTATCCGGGGGCCCCTCTTCTATCCAGGGCCCCTCTTCTGTCTGGGAGCCCCTCTTCTATCTGGGGCCTCATGCAGTGGGGCCTAGGGGAGGTTCTCTGAGGACTTGGCCTTGATGACAGGGTGGCTGGAGGAATCAGAACGGTCAGACCTTCTTTGACCTGCGGGCACCTTTAGTTGGAATGGTCAGGCCTGGGATGGTGGAGGGGGCTCTTGCAGGTGGGGACTGGGGTGGCGGGGAGGAGGCTGTATGGCCGCCATATCTCCTTTGGCTGGGGGCGTCAGGGCTGGAGAGGTGTGAAGAGTCCCTGAGGCCTCGATGCATCTCACTCCAGCTCACCAGGTCTGCATTTGCCCGTCCCCAGCTCCTGCTGCCACCTCCGGCCGTTTTAGGCACTTGGCTCCCTTGGCCCAGAGGAGCTTGCCTCACAGGCCTGTGCACCTCTGACCCCTGTGAACCAGTTTTCCTTTGTGCCTCCACAGCCACAGCCTGGCAGCTCTGATCAGGAAAGTGAGGAACAGCAACAATTCCGGAACATTTTCAAGCAGATAGCAGGAGATGTGAGTACCTCCAAGCCCAGGACGCCCACAGGTGCTTCCTTCTCTCCTGGATTAACTGCTCAGATTACCAATTATTTCATTATTGTTTGGTAGAGGTCACTTTGGACTTTGGTGGAGCCAGGGGATGTGTGCGTAGCACACAAATCCACAAGCCCTTGAGTTTTGGACTGCCACGTCTGCTGGGGGGCTCAGAGGCCTTTTTGCTCTGAGCTGCCCACGGTGGTCCTGATAGCTGAGGTGCAGTATCTGGCCCCCTGTCTTCCTCAGAAAAGCCCCAGCTTCCCATGACATAATAGCACCGACAGGGATTTTACAAACACAGCCAGGTGGAATTTGTTTTGCAAAGTGTCCGCGCCAGGAGCTGCTGTACTCCTGAACCATGACCCTCCTCTCCCTTCCTCCTCAGGACATGGAGATCTGTGCAGATGAGCTCAAGAAGGTCCTTAACACAGTCGTGAACAAACGTGAGTTGCTCAAACCAAATGGGGGTGGGGTGGGTGGGGAGTCCCGTTGTCTCAAAGCAGCTCCTCACTCTTCTCCATCCCCCCAGACAAGGACCTGAAGACACACGGGTTCACACTGGAGTCCTGCCGTAGCATGATTGCGCTCATGGATGTATCCTTCCTGCCGCCCCTTCCCGACCCTCTGTCATCAGCCCACGGGGGCCAAGGCAACATACAGGGTGCCCAGTCAGGCAAAGGGCCCTAATTTGTGCCCAGGGAAACTTAAGGAGACCCTGATTCAGAACATCTTGGATACTCGTCTGAAAGGGGTTGTTAGAGGCGGAAGGGGAGGATGTTGGGTTGTAACTGCCCTAACCCCTGTGCTTCTCTCAGGCCTGGGATCCTGCCCAAGCAAAAGTGGTCCTTAGGAGAGCGGCTCCTGGGTTACAGAGTAGGCGCAATCTCTGACTGGTGGTGGAGTGGAGGGGAGGGTTAAATAGTACAACAGGGCAGTGGGTAGGACAGCCCGGAGTCTCCTAGACCCTCCCTCCAAATCCAGGGGGATTTTGCTGTGTGCTGTGTAGCCCTGACCTCCCTCCTCCAGACAGATGGCTCTGGAAAGCTCAACCTGCAGGAGTTCCACCACCTCTGGAACAAGATTAAGGCCTGGCAGGTGGGAAGAGAAAATGAAGCGTGGGAGTCAAGAATGGGGTTGATTTGGAGATTCAGTGTGTGACCTCCATCCTCAAATTTTCTATTGCCAGAAAATTTTCAAACACTATGACACAGACCAGTCCGGCACCATCAACAGCTACGAGATGGGAAATGCAGTCAACGACGCAGGTGCTGAGAAGGAAGGGGTGGCAGGGATGTGGACCCGAGACGGTGGGAGCAGGAATGGGAGGGGACTAGGCTACTAGGGCCCCACTAGAGAAAGGAGAGGGAAAGGGCTTCTCACTTTCCCTTCCCAGGTCACAGAGTGGCCGAGAGGCAGGGAAAATAGAAGGCAGGCCCAAGGCCTCCAGCTCCACGTCCACCTCTAACATGGTCCCCTCCACAGGATTCCACCTCAACAACCAGCTCTATGACATCATTACCATGCGGTACGCAGACAAACACATGAACATCGACTTTGACAGTTTCATCTGCTGCTTCGTTAGGCTGGAGGGCATGTTCAGTAAGTGGGAGAGGGGGGCTGCCCTCTGCTCTCTTGCAGGGGCAGTTGTGGCAACAGGCATCTCACCTGATAATCTCCAGTCTGCTCCATCCAGGCTGAACAAGGGCCAATGACCTCTTTAGGCCCAGAATGGGATGGCAAAGGGAGGGTTACTGGTGATTCTCTGCCTGCACATCTTTGTGCTGATGAGGGACAGCACTGGGCACATGGTCCTCTGAGGGGAAGTTACAGTAGTAGAGGCGGAGTGCGCCTGTAACTGGCCTCTGGCCTGTGCATTCTTTCACAGGAGCTTTTCATGCATTTGACAAGGATGGAGATGGTATCATCAAGCTCAACGTTCTGGAGGTAAAGCATAGGCACAGCACATTCCCCCTACACATTAAAACTCAAGGTGGAGGGGTCAACGGGGCGGACTGGACCCAGGGTGTGCTCCTCATTTCCACACAGTGGTGGAGGGAAGGGATAGGAACAGAACATGGAGGGAGGCTCAGCAGGCTCCCAGGACACATGCACTTGAGGCCCAAAAGGACCTCTGCTCCCCCAGTCACTTGATGCGGGAAAACATGCACCTTCTTAGGGAAGATCTAGGAGAAAGGAAACAGTAAGCCACTGCTTCTTGGAAAATCTTCTGGGGGTCTGACCTGCTGGGACTGTTCCCTTTCCTCTTGCCCCGTAAGATTCCTAGGGCGGGGGGGGGGGGGGTCACTCTTTTCTGATCTACATTCTGATCTTGGGACTTCTTTCAGTGGCTGCAGCTCACCATGTATGCCTGAACCAGGCTGGCCTCATCCAAAGCCATGCAGGATCACTCAGGATTTCAGTTTCACCCTCTATTTCCAAAGCCATTTACCTCAAAGGACCCAGCAGCTACACCCCTACAGGCTTCCAGGCACCTCATCAGTCATGCTCCTCCTCCATTTTACCCCCTACCCATCCTTGATCGGTCATGCCTAGCCTGACCCTTTAGTAAAGCAATGAGGTAGGAAGAACAAACCCTTGTCCCTTTGCCATGTGGAGGAAAGTGCCTGCCTCTGGTCCGAGCCGCCTCGGTTCTGAAGCGAGTGCTCCTGCTTACCTTGCTCTAGGCTGTCTGCAGAAGCACCTGCCGGTGGCACTCAGCACCTCCTTGTGCTAGAGCCCTCCATCACCTTCACGCTGTCCCACCATGGGCCAGGAACCAAACCAGCACTGGGTTCTACTGCTGTGGGGTAAACTAACTCAGTGGAATAGGGCTGGTTACTTTGGGCTGTCCAACTCATAAGTTTGGCTGCATTTTGAAAAAAGCTGATCTAAATAAAGGCATGTGTATGGCTGGTCCCCTTGTGTTTTGTTGTCTCACATTTAGATATCAGCCATGCATGACTGAATGGCTTCCAATCATATACTCACCTATCACCTACAAGAGAACAATGAAAAACACACACAAAAACAAAATCTTGAATTTTGTAATCATGCCTATTGCTATTTCTTGAGCATAAGAATGGCTCAGATACTTTCCAAGACATAAAAGGAAGGCAGAGGAATAGTTGTTGCTGTAAAAGACATCAAGAATAAATGGGTCATGTACAACGGGAGGGGCCGGTTACCTGAATAATGGAGTGGAGATTGAGCTATCCTAGCTCCTCTGCTCACTAACTGACCTGTCGCATGACCGTGGACAAAACCCTGAACGCAGCTGTTTGTTTGCTAAAC
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Task1_train_20597
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This sequence change occurs on Chromosome 15, altering CAPN3 (calpain 3). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2A
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CTATCTGGGGCCTCATGCAGTGGGGCCTAGGGGAGGTTCTCTGAGGACTTGGCCTTGATGACAGGGTGGCTGGAGGAATCAGAACGGTCAGACCTTCTTTGACCTGCGGGCACCTTTAGTTGGAATGGTCAGGCCTGGGATGGTGGAGGGGGCTCTTGCAGGTGGGGACTGGGGTGGCGGGGAGGAGGCTGTATGGCCGCCATATCTCCTTTGGCTGGGGGCGTCAGGGCTGGAGAGGTGTGAAGAGTCCCTGAGGCCTCGATGCATCTCACTCCAGCTCACCAGGTCTGCATTTGCCCGTCCCCAGCTCCTGCTGCCACCTCCGGCCGTTTTAGGCACTTGGCTCCCTTGGCCCAGAGGAGCTTGCCTCACAGGCCTGTGCACCTCTGACCCCTGTGAACCAGTTTTCCTTTGTGCCTCCACAGCCACAGCCTGGCAGCTCTGATCAGGAAAGTGAGGAACAGCAACAATTCCGGAACATTTTCAAGCAGATAGCAGGAGATGTGAGTACCTCCAAGCCCAGGACGCCCACAGGTGCTTCCTTCTCTCCTGGATTAACTGCTCAGATTACCAATTATTTCATTATTGTTTGGTAGAGGTCACTTTGGACTTTGGTGGAGCCAGGGGATGTGTGCGTAGCACACAAATCCACAAGCCCTTGAGTTTTGGACTGCCACGTCTGCTGGGGGGCTCAGAGGCCTTTTTGCTCTGAGCTGCCCACGGTGGTCCTGATAGCTGAGGTGCAGTATCTGGCCCCCTGTCTTCCTCAGAAAAGCCCCAGCTTCCCATGACATAATAGCACCGACAGGGATTTTACAAACACAGCCAGGTGGAATTTGTTTTGCAAAGTGTCCGCGCCAGGAGCTGCTGTACTCCTGAACCATGACCCTCCTCTCCCTTCCTCCTCAGGACATGGAGATCTGTGCAGATGAGCTCAAGAAGGTCCTTAACACAGTCGTGAACAAACGTGAGTTGCTCAAACCAAATGGGGGTGGGGTGGGTGGGGAGTCCCGTTGTCTCAAAGCAGCTCCTCACTCTTCTCCATCCCCCCAGACAAGGACCTGAAGACACACGGGTTCACACTGGAGTCCTGCCGTAGCATGATTGCGCTCATGGATGTATCCTTCCTGCCGCCCCTTCCCGACCCTCTGTCATCAGCCCACGGGGGCCAAGGCAACATACAGGGTGCCCAGTCAGGCAAAGGGCCCTAATTTGTGCCCAGGGAAACTTAAGGAGACCCTGATTCAGAACATCTTGGATACTCGTCTGAAAGGGGTTGTTAGAGGCGGAAGGGGAGGATGTTGGGTTGTAACTGCCCTAACCCCTGTGCTTCTCTCAGGCCTGGGATCCTGCCCAAGCAAAAGTGGTCCTTAGGAGAGCGGCTCCTGGGTTACAGAGTAGGCGCAATCTCTGACTGGTGGTGGAGTGGAGGGGAGGGTTAAATAGTACAACAGGGCAGTGGGTAGGACAGCCCGGAGTCTCCTAGACCCTCCCTCCAAATCCAGGGGGATTTTGCTGTGTGCTGTGTAGCCCTGACCTCCCTCCTCCAGACAGATGGCTCTGGAAAGCTCAACCTGCAGGAGTTCCACCACCTCTGGAACAAGATTAAGGCCTGGCAGGTGGGAAGAGAAAATGAAGCGTGGGAGTCAAGAATGGGGTTGATTTGGAGATTCAGTGTGTGACCTCCATCCTCAAATTTTCTATTGCCAGAAAATTTTCAAACACTATGACACAGACCAGTCCGGCACCATCAACAGCTACGAGATGCGAAATGCAGTCAACGACGCAGGTGCTGAGAAGGAAGGGGTGGCAGGGATGTGGACCCGAGACGGTGGGAGCAGGAATGGGAGGGGACTAGGCTACTAGGGCCCCACTAGAGAAAGGAGAGGGAAAGGGCTTCTCACTTTCCCTTCCCAGGTCACAGAGTGGCCGAGAGGCAGGGAAAATAGAAGGCAGGCCCAAGGCCTCCAGCTCCACGTCCACCTCTAACATGGTCCCCTCCACAGGATTCCACCTCAACAACCAGCTCTATGACATCATTACCATGCGGTACGCAGACAAACACATGAACATCGACTTTGACAGTTTCATCTGCTGCTTCGTTAGGCTGGAGGGCATGTTCAGTAAGTGGGAGAGGGGGGCTGCCCTCTGCTCTCTTGCAGGGGCAGTTGTGGCAACAGGCATCTCACCTGATAATCTCCAGTCTGCTCCATCCAGGCTGAACAAGGGCCAATGACCTCTTTAGGCCCAGAATGGGATGGCAAAGGGAGGGTTACTGGTGATTCTCTGCCTGCACATCTTTGTGCTGATGAGGGACAGCACTGGGCACATGGTCCTCTGAGGGGAAGTTACAGTAGTAGAGGCGGAGTGCGCCTGTAACTGGCCTCTGGCCTGTGCATTCTTTCACAGGAGCTTTTCATGCATTTGACAAGGATGGAGATGGTATCATCAAGCTCAACGTTCTGGAGGTAAAGCATAGGCACAGCACATTCCCCCTACACATTAAAACTCAAGGTGGAGGGGTCAACGGGGCGGACTGGACCCAGGGTGTGCTCCTCATTTCCACACAGTGGTGGAGGGAAGGGATAGGAACAGAACATGGAGGGAGGCTCAGCAGGCTCCCAGGACACATGCACTTGAGGCCCAAAAGGACCTCTGCTCCCCCAGTCACTTGATGCGGGAAAACATGCACCTTCTTAGGGAAGATCTAGGAGAAAGGAAACAGTAAGCCACTGCTTCTTGGAAAATCTTCTGGGGGTCTGACCTGCTGGGACTGTTCCCTTTCCTCTTGCCCCGTAAGATTCCTAGGGCGGGGGGGGGGGGGGTCACTCTTTTCTGATCTACATTCTGATCTTGGGACTTCTTTCAGTGGCTGCAGCTCACCATGTATGCCTGAACCAGGCTGGCCTCATCCAAAGCCATGCAGGATCACTCAGGATTTCAGTTTCACCCTCTATTTCCAAAGCCATTTACCTCAAAGGACCCAGCAGCTACACCCCTACAGGCTTCCAGGCACCTCATCAGTCATGCTCCTCCTCCATTTTACCCCCTACCCATCCTTGATCGGTCATGCCTAGCCTGACCCTTTAGTAAAGCAATGAGGTAGGAAGAACAAACCCTTGTCCCTTTGCCATGTGGAGGAAAGTGCCTGCCTCTGGTCCGAGCCGCCTCGGTTCTGAAGCGAGTGCTCCTGCTTACCTTGCTCTAGGCTGTCTGCAGAAGCACCTGCCGGTGGCACTCAGCACCTCCTTGTGCTAGAGCCCTCCATCACCTTCACGCTGTCCCACCATGGGCCAGGAACCAAACCAGCACTGGGTTCTACTGCTGTGGGGTAAACTAACTCAGTGGAATAGGGCTGGTTACTTTGGGCTGTCCAACTCATAAGTTTGGCTGCATTTTGAAAAAAGCTGATCTAAATAAAGGCATGTGTATGGCTGGTCCCCTTGTGTTTTGTTGTCTCACATTTAGATATCAGCCATGCATGACTGAATGGCTTCCAATCATATACTCACCTATCACCTACAAGAGAACAATGAAAAACACACACAAAAACAAAATCTTGAATTTTGTAATCATGCCTATTGCTATTTCTTGAGCATAAGAATGGCTCAGATACTTTCCAAGACATAAAAGGAAGGCAGAGGAATAGTTGTTGCTGTAAAAGACATCAAGAATAAATGGGTCATGTACAACGGGAGGGGCCGGTTACCTGAATAATGGAGTGGAGATTGAGCTATCCTAGCTCCTCTGCTCACTAACTGACCTGTCGCATGACCGTGGACAAAACCCTGAACGCAGCTGTTTGTTTGCTAAACTTCTCTGGACCATGGCCTGCGGCATATCTATAGGCATCCTGTGTTTTCCACCCAGTTTCCTTCTTCCTCGCTAAGCCAACGTGGAAAGGGCTGGCCGTGAATATGCAGACAAGGTAACGAAAGTAAACCGTCAATTAGTAAAAGTACTTTATTTTCCTCTTGTATTTGCTTTATATCTTGCTTTACAAAGTTACGAAGTTCACAGCTTTATACCAAAATGTAAGAAGGCTATTTGCTTATAAACATTTTTGCAGTCAGGTGTCATCTGATTTCATTCTTCT
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CTATCTGGGGCCTCATGCAGTGGGGCCTAGGGGAGGTTCTCTGAGGACTTGGCCTTGATGACAGGGTGGCTGGAGGAATCAGAACGGTCAGACCTTCTTTGACCTGCGGGCACCTTTAGTTGGAATGGTCAGGCCTGGGATGGTGGAGGGGGCTCTTGCAGGTGGGGACTGGGGTGGCGGGGAGGAGGCTGTATGGCCGCCATATCTCCTTTGGCTGGGGGCGTCAGGGCTGGAGAGGTGTGAAGAGTCCCTGAGGCCTCGATGCATCTCACTCCAGCTCACCAGGTCTGCATTTGCCCGTCCCCAGCTCCTGCTGCCACCTCCGGCCGTTTTAGGCACTTGGCTCCCTTGGCCCAGAGGAGCTTGCCTCACAGGCCTGTGCACCTCTGACCCCTGTGAACCAGTTTTCCTTTGTGCCTCCACAGCCACAGCCTGGCAGCTCTGATCAGGAAAGTGAGGAACAGCAACAATTCCGGAACATTTTCAAGCAGATAGCAGGAGATGTGAGTACCTCCAAGCCCAGGACGCCCACAGGTGCTTCCTTCTCTCCTGGATTAACTGCTCAGATTACCAATTATTTCATTATTGTTTGGTAGAGGTCACTTTGGACTTTGGTGGAGCCAGGGGATGTGTGCGTAGCACACAAATCCACAAGCCCTTGAGTTTTGGACTGCCACGTCTGCTGGGGGGCTCAGAGGCCTTTTTGCTCTGAGCTGCCCACGGTGGTCCTGATAGCTGAGGTGCAGTATCTGGCCCCCTGTCTTCCTCAGAAAAGCCCCAGCTTCCCATGACATAATAGCACCGACAGGGATTTTACAAACACAGCCAGGTGGAATTTGTTTTGCAAAGTGTCCGCGCCAGGAGCTGCTGTACTCCTGAACCATGACCCTCCTCTCCCTTCCTCCTCAGGACATGGAGATCTGTGCAGATGAGCTCAAGAAGGTCCTTAACACAGTCGTGAACAAACGTGAGTTGCTCAAACCAAATGGGGGTGGGGTGGGTGGGGAGTCCCGTTGTCTCAAAGCAGCTCCTCACTCTTCTCCATCCCCCCAGACAAGGACCTGAAGACACACGGGTTCACACTGGAGTCCTGCCGTAGCATGATTGCGCTCATGGATGTATCCTTCCTGCCGCCCCTTCCCGACCCTCTGTCATCAGCCCACGGGGGCCAAGGCAACATACAGGGTGCCCAGTCAGGCAAAGGGCCCTAATTTGTGCCCAGGGAAACTTAAGGAGACCCTGATTCAGAACATCTTGGATACTCGTCTGAAAGGGGTTGTTAGAGGCGGAAGGGGAGGATGTTGGGTTGTAACTGCCCTAACCCCTGTGCTTCTCTCAGGCCTGGGATCCTGCCCAAGCAAAAGTGGTCCTTAGGAGAGCGGCTCCTGGGTTACAGAGTAGGCGCAATCTCTGACTGGTGGTGGAGTGGAGGGGAGGGTTAAATAGTACAACAGGGCAGTGGGTAGGACAGCCCGGAGTCTCCTAGACCCTCCCTCCAAATCCAGGGGGATTTTGCTGTGTGCTGTGTAGCCCTGACCTCCCTCCTCCAGACAGATGGCTCTGGAAAGCTCAACCTGCAGGAGTTCCACCACCTCTGGAACAAGATTAAGGCCTGGCAGGTGGGAAGAGAAAATGAAGCGTGGGAGTCAAGAATGGGGTTGATTTGGAGATTCAGTGTGTGACCTCCATCCTCAAATTTTCTATTGCCAGAAAATTTTCAAACACTATGACACAGACCAGTCCGGCACCATCAACAGCTACGAGATGCGAAATGCAGTCAACGACGCAGGTGCTGAGAAGGAAGGGGTGGCAGGGATGTGGACCCGAGACGGTGGGAGCAGGAATGGGAGGGGACTAGGCTACTAGGGCCCCACTAGAGAAAGGAGAGGGAAAGGGCTTCTCACTTTCCCTTCCCAGGTCACAGAGTGGCCGAGAGGCAGGGAAAATAGAAGGCAGGCCCAAGGCCTCCAGCTCCACGTCCACCTCTAACATGGTCCCCTCCACAGGATTCCACCTCAACAACCAGCTCTATGACATCATTACCATGCAGTACGCAGACAAACACATGAACATCGACTTTGACAGTTTCATCTGCTGCTTCGTTAGGCTGGAGGGCATGTTCAGTAAGTGGGAGAGGGGGGCTGCCCTCTGCTCTCTTGCAGGGGCAGTTGTGGCAACAGGCATCTCACCTGATAATCTCCAGTCTGCTCCATCCAGGCTGAACAAGGGCCAATGACCTCTTTAGGCCCAGAATGGGATGGCAAAGGGAGGGTTACTGGTGATTCTCTGCCTGCACATCTTTGTGCTGATGAGGGACAGCACTGGGCACATGGTCCTCTGAGGGGAAGTTACAGTAGTAGAGGCGGAGTGCGCCTGTAACTGGCCTCTGGCCTGTGCATTCTTTCACAGGAGCTTTTCATGCATTTGACAAGGATGGAGATGGTATCATCAAGCTCAACGTTCTGGAGGTAAAGCATAGGCACAGCACATTCCCCCTACACATTAAAACTCAAGGTGGAGGGGTCAACGGGGCGGACTGGACCCAGGGTGTGCTCCTCATTTCCACACAGTGGTGGAGGGAAGGGATAGGAACAGAACATGGAGGGAGGCTCAGCAGGCTCCCAGGACACATGCACTTGAGGCCCAAAAGGACCTCTGCTCCCCCAGTCACTTGATGCGGGAAAACATGCACCTTCTTAGGGAAGATCTAGGAGAAAGGAAACAGTAAGCCACTGCTTCTTGGAAAATCTTCTGGGGGTCTGACCTGCTGGGACTGTTCCCTTTCCTCTTGCCCCGTAAGATTCCTAGGGCGGGGGGGGGGGGGGTCACTCTTTTCTGATCTACATTCTGATCTTGGGACTTCTTTCAGTGGCTGCAGCTCACCATGTATGCCTGAACCAGGCTGGCCTCATCCAAAGCCATGCAGGATCACTCAGGATTTCAGTTTCACCCTCTATTTCCAAAGCCATTTACCTCAAAGGACCCAGCAGCTACACCCCTACAGGCTTCCAGGCACCTCATCAGTCATGCTCCTCCTCCATTTTACCCCCTACCCATCCTTGATCGGTCATGCCTAGCCTGACCCTTTAGTAAAGCAATGAGGTAGGAAGAACAAACCCTTGTCCCTTTGCCATGTGGAGGAAAGTGCCTGCCTCTGGTCCGAGCCGCCTCGGTTCTGAAGCGAGTGCTCCTGCTTACCTTGCTCTAGGCTGTCTGCAGAAGCACCTGCCGGTGGCACTCAGCACCTCCTTGTGCTAGAGCCCTCCATCACCTTCACGCTGTCCCACCATGGGCCAGGAACCAAACCAGCACTGGGTTCTACTGCTGTGGGGTAAACTAACTCAGTGGAATAGGGCTGGTTACTTTGGGCTGTCCAACTCATAAGTTTGGCTGCATTTTGAAAAAAGCTGATCTAAATAAAGGCATGTGTATGGCTGGTCCCCTTGTGTTTTGTTGTCTCACATTTAGATATCAGCCATGCATGACTGAATGGCTTCCAATCATATACTCACCTATCACCTACAAGAGAACAATGAAAAACACACACAAAAACAAAATCTTGAATTTTGTAATCATGCCTATTGCTATTTCTTGAGCATAAGAATGGCTCAGATACTTTCCAAGACATAAAAGGAAGGCAGAGGAATAGTTGTTGCTGTAAAAGACATCAAGAATAAATGGGTCATGTACAACGGGAGGGGCCGGTTACCTGAATAATGGAGTGGAGATTGAGCTATCCTAGCTCCTCTGCTCACTAACTGACCTGTCGCATGACCGTGGACAAAACCCTGAACGCAGCTGTTTGTTTGCTAAACTTCTCTGGACCATGGCCTGCGGCATATCTATAGGCATCCTGTGTTTTCCACCCAGTTTCCTTCTTCCTCGCTAAGCCAACGTGGAAAGGGCTGGCCGTGAATATGCAGACAAGGTAACGAAAGTAAACCGTCAATTAGTAAAAGTACTTTATTTTCCTCTTGTATTTGCTTTATATCTTGCTTTACAAAGTTACGAAGTTCACAGCTTTATACCAAAATGTAAGAAGGCTATTTGCTTATAAACATTTTTGCAGTCAGGTGTCATCTGATTTCATTCTTCT
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Task1_train_20598
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Located on Chromosome 15, this mutation impacts CAPN3 (calpain 3). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Abnormality of the musculature
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CTATCTGGGGCCTCATGCAGTGGGGCCTAGGGGAGGTTCTCTGAGGACTTGGCCTTGATGACAGGGTGGCTGGAGGAATCAGAACGGTCAGACCTTCTTTGACCTGCGGGCACCTTTAGTTGGAATGGTCAGGCCTGGGATGGTGGAGGGGGCTCTTGCAGGTGGGGACTGGGGTGGCGGGGAGGAGGCTGTATGGCCGCCATATCTCCTTTGGCTGGGGGCGTCAGGGCTGGAGAGGTGTGAAGAGTCCCTGAGGCCTCGATGCATCTCACTCCAGCTCACCAGGTCTGCATTTGCCCGTCCCCAGCTCCTGCTGCCACCTCCGGCCGTTTTAGGCACTTGGCTCCCTTGGCCCAGAGGAGCTTGCCTCACAGGCCTGTGCACCTCTGACCCCTGTGAACCAGTTTTCCTTTGTGCCTCCACAGCCACAGCCTGGCAGCTCTGATCAGGAAAGTGAGGAACAGCAACAATTCCGGAACATTTTCAAGCAGATAGCAGGAGATGTGAGTACCTCCAAGCCCAGGACGCCCACAGGTGCTTCCTTCTCTCCTGGATTAACTGCTCAGATTACCAATTATTTCATTATTGTTTGGTAGAGGTCACTTTGGACTTTGGTGGAGCCAGGGGATGTGTGCGTAGCACACAAATCCACAAGCCCTTGAGTTTTGGACTGCCACGTCTGCTGGGGGGCTCAGAGGCCTTTTTGCTCTGAGCTGCCCACGGTGGTCCTGATAGCTGAGGTGCAGTATCTGGCCCCCTGTCTTCCTCAGAAAAGCCCCAGCTTCCCATGACATAATAGCACCGACAGGGATTTTACAAACACAGCCAGGTGGAATTTGTTTTGCAAAGTGTCCGCGCCAGGAGCTGCTGTACTCCTGAACCATGACCCTCCTCTCCCTTCCTCCTCAGGACATGGAGATCTGTGCAGATGAGCTCAAGAAGGTCCTTAACACAGTCGTGAACAAACGTGAGTTGCTCAAACCAAATGGGGGTGGGGTGGGTGGGGAGTCCCGTTGTCTCAAAGCAGCTCCTCACTCTTCTCCATCCCCCCAGACAAGGACCTGAAGACACACGGGTTCACACTGGAGTCCTGCCGTAGCATGATTGCGCTCATGGATGTATCCTTCCTGCCGCCCCTTCCCGACCCTCTGTCATCAGCCCACGGGGGCCAAGGCAACATACAGGGTGCCCAGTCAGGCAAAGGGCCCTAATTTGTGCCCAGGGAAACTTAAGGAGACCCTGATTCAGAACATCTTGGATACTCGTCTGAAAGGGGTTGTTAGAGGCGGAAGGGGAGGATGTTGGGTTGTAACTGCCCTAACCCCTGTGCTTCTCTCAGGCCTGGGATCCTGCCCAAGCAAAAGTGGTCCTTAGGAGAGCGGCTCCTGGGTTACAGAGTAGGCGCAATCTCTGACTGGTGGTGGAGTGGAGGGGAGGGTTAAATAGTACAACAGGGCAGTGGGTAGGACAGCCCGGAGTCTCCTAGACCCTCCCTCCAAATCCAGGGGGATTTTGCTGTGTGCTGTGTAGCCCTGACCTCCCTCCTCCAGACAGATGGCTCTGGAAAGCTCAACCTGCAGGAGTTCCACCACCTCTGGAACAAGATTAAGGCCTGGCAGGTGGGAAGAGAAAATGAAGCGTGGGAGTCAAGAATGGGGTTGATTTGGAGATTCAGTGTGTGACCTCCATCCTCAAATTTTCTATTGCCAGAAAATTTTCAAACACTATGACACAGACCAGTCCGGCACCATCAACAGCTACGAGATGCGAAATGCAGTCAACGACGCAGGTGCTGAGAAGGAAGGGGTGGCAGGGATGTGGACCCGAGACGGTGGGAGCAGGAATGGGAGGGGACTAGGCTACTAGGGCCCCACTAGAGAAAGGAGAGGGAAAGGGCTTCTCACTTTCCCTTCCCAGGTCACAGAGTGGCCGAGAGGCAGGGAAAATAGAAGGCAGGCCCAAGGCCTCCAGCTCCACGTCCACCTCTAACATGGTCCCCTCCACAGGATTCCACCTCAACAACCAGCTCTATGACATCATTACCATGCGGTACGCAGACAAACACATGAACATCGACTTTGACAGTTTCATCTGCTGCTTCGTTAGGCTGGAGGGCATGTTCAGTAAGTGGGAGAGGGGGGCTGCCCTCTGCTCTCTTGCAGGGGCAGTTGTGGCAACAGGCATCTCACCTGATAATCTCCAGTCTGCTCCATCCAGGCTGAACAAGGGCCAATGACCTCTTTAGGCCCAGAATGGGATGGCAAAGGGAGGGTTACTGGTGATTCTCTGCCTGCACATCTTTGTGCTGATGAGGGACAGCACTGGGCACATGGTCCTCTGAGGGGAAGTTACAGTAGTAGAGGCGGAGTGCGCCTGTAACTGGCCTCTGGCCTGTGCATTCTTTCACAGGAGCTTTTCATGCATTTGACAAGGATGGAGATGGTATCATCAAGCTCAACGTTCTGGAGGTAAAGCATAGGCACAGCACATTCCCCCTACACATTAAAACTCAAGGTGGAGGGGTCAACGGGGCGGACTGGACCCAGGGTGTGCTCCTCATTTCCACACAGTGGTGGAGGGAAGGGATAGGAACAGAACATGGAGGGAGGCTCAGCAGGCTCCCAGGACACATGCACTTGAGGCCCAAAAGGACCTCTGCTCCCCCAGTCACTTGATGCGGGAAAACATGCACCTTCTTAGGGAAGATCTAGGAGAAAGGAAACAGTAAGCCACTGCTTCTTGGAAAATCTTCTGGGGGTCTGACCTGCTGGGACTGTTCCCTTTCCTCTTGCCCCGTAAGATTCCTAGGGCGGGGGGGGGGGGGGTCACTCTTTTCTGATCTACATTCTGATCTTGGGACTTCTTTCAGTGGCTGCAGCTCACCATGTATGCCTGAACCAGGCTGGCCTCATCCAAAGCCATGCAGGATCACTCAGGATTTCAGTTTCACCCTCTATTTCCAAAGCCATTTACCTCAAAGGACCCAGCAGCTACACCCCTACAGGCTTCCAGGCACCTCATCAGTCATGCTCCTCCTCCATTTTACCCCCTACCCATCCTTGATCGGTCATGCCTAGCCTGACCCTTTAGTAAAGCAATGAGGTAGGAAGAACAAACCCTTGTCCCTTTGCCATGTGGAGGAAAGTGCCTGCCTCTGGTCCGAGCCGCCTCGGTTCTGAAGCGAGTGCTCCTGCTTACCTTGCTCTAGGCTGTCTGCAGAAGCACCTGCCGGTGGCACTCAGCACCTCCTTGTGCTAGAGCCCTCCATCACCTTCACGCTGTCCCACCATGGGCCAGGAACCAAACCAGCACTGGGTTCTACTGCTGTGGGGTAAACTAACTCAGTGGAATAGGGCTGGTTACTTTGGGCTGTCCAACTCATAAGTTTGGCTGCATTTTGAAAAAAGCTGATCTAAATAAAGGCATGTGTATGGCTGGTCCCCTTGTGTTTTGTTGTCTCACATTTAGATATCAGCCATGCATGACTGAATGGCTTCCAATCATATACTCACCTATCACCTACAAGAGAACAATGAAAAACACACACAAAAACAAAATCTTGAATTTTGTAATCATGCCTATTGCTATTTCTTGAGCATAAGAATGGCTCAGATACTTTCCAAGACATAAAAGGAAGGCAGAGGAATAGTTGTTGCTGTAAAAGACATCAAGAATAAATGGGTCATGTACAACGGGAGGGGCCGGTTACCTGAATAATGGAGTGGAGATTGAGCTATCCTAGCTCCTCTGCTCACTAACTGACCTGTCGCATGACCGTGGACAAAACCCTGAACGCAGCTGTTTGTTTGCTAAACTTCTCTGGACCATGGCCTGCGGCATATCTATAGGCATCCTGTGTTTTCCACCCAGTTTCCTTCTTCCTCGCTAAGCCAACGTGGAAAGGGCTGGCCGTGAATATGCAGACAAGGTAACGAAAGTAAACCGTCAATTAGTAAAAGTACTTTATTTTCCTCTTGTATTTGCTTTATATCTTGCTTTACAAAGTTACGAAGTTCACAGCTTTATACCAAAATGTAAGAAGGCTATTTGCTTATAAACATTTTTGCAGTCAGGTGTCATCTGATTTCATTCTTCT
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CTATCTGGGGCCTCATGCAGTGGGGCCTAGGGGAGGTTCTCTGAGGACTTGGCCTTGATGACAGGGTGGCTGGAGGAATCAGAACGGTCAGACCTTCTTTGACCTGCGGGCACCTTTAGTTGGAATGGTCAGGCCTGGGATGGTGGAGGGGGCTCTTGCAGGTGGGGACTGGGGTGGCGGGGAGGAGGCTGTATGGCCGCCATATCTCCTTTGGCTGGGGGCGTCAGGGCTGGAGAGGTGTGAAGAGTCCCTGAGGCCTCGATGCATCTCACTCCAGCTCACCAGGTCTGCATTTGCCCGTCCCCAGCTCCTGCTGCCACCTCCGGCCGTTTTAGGCACTTGGCTCCCTTGGCCCAGAGGAGCTTGCCTCACAGGCCTGTGCACCTCTGACCCCTGTGAACCAGTTTTCCTTTGTGCCTCCACAGCCACAGCCTGGCAGCTCTGATCAGGAAAGTGAGGAACAGCAACAATTCCGGAACATTTTCAAGCAGATAGCAGGAGATGTGAGTACCTCCAAGCCCAGGACGCCCACAGGTGCTTCCTTCTCTCCTGGATTAACTGCTCAGATTACCAATTATTTCATTATTGTTTGGTAGAGGTCACTTTGGACTTTGGTGGAGCCAGGGGATGTGTGCGTAGCACACAAATCCACAAGCCCTTGAGTTTTGGACTGCCACGTCTGCTGGGGGGCTCAGAGGCCTTTTTGCTCTGAGCTGCCCACGGTGGTCCTGATAGCTGAGGTGCAGTATCTGGCCCCCTGTCTTCCTCAGAAAAGCCCCAGCTTCCCATGACATAATAGCACCGACAGGGATTTTACAAACACAGCCAGGTGGAATTTGTTTTGCAAAGTGTCCGCGCCAGGAGCTGCTGTACTCCTGAACCATGACCCTCCTCTCCCTTCCTCCTCAGGACATGGAGATCTGTGCAGATGAGCTCAAGAAGGTCCTTAACACAGTCGTGAACAAACGTGAGTTGCTCAAACCAAATGGGGGTGGGGTGGGTGGGGAGTCCCGTTGTCTCAAAGCAGCTCCTCACTCTTCTCCATCCCCCCAGACAAGGACCTGAAGACACACGGGTTCACACTGGAGTCCTGCCGTAGCATGATTGCGCTCATGGATGTATCCTTCCTGCCGCCCCTTCCCGACCCTCTGTCATCAGCCCACGGGGGCCAAGGCAACATACAGGGTGCCCAGTCAGGCAAAGGGCCCTAATTTGTGCCCAGGGAAACTTAAGGAGACCCTGATTCAGAACATCTTGGATACTCGTCTGAAAGGGGTTGTTAGAGGCGGAAGGGGAGGATGTTGGGTTGTAACTGCCCTAACCCCTGTGCTTCTCTCAGGCCTGGGATCCTGCCCAAGCAAAAGTGGTCCTTAGGAGAGCGGCTCCTGGGTTACAGAGTAGGCGCAATCTCTGACTGGTGGTGGAGTGGAGGGGAGGGTTAAATAGTACAACAGGGCAGTGGGTAGGACAGCCCGGAGTCTCCTAGACCCTCCCTCCAAATCCAGGGGGATTTTGCTGTGTGCTGTGTAGCCCTGACCTCCCTCCTCCAGACAGATGGCTCTGGAAAGCTCAACCTGCAGGAGTTCCACCACCTCTGGAACAAGATTAAGGCCTGGCAGGTGGGAAGAGAAAATGAAGCGTGGGAGTCAAGAATGGGGTTGATTTGGAGATTCAGTGTGTGACCTCCATCCTCAAATTTTCTATTGCCAGAAAATTTTCAAACACTATGACACAGACCAGTCCGGCACCATCAACAGCTACGAGATGCGAAATGCAGTCAACGACGCAGGTGCTGAGAAGGAAGGGGTGGCAGGGATGTGGACCCGAGACGGTGGGAGCAGGAATGGGAGGGGACTAGGCTACTAGGGCCCCACTAGAGAAAGGAGAGGGAAAGGGCTTCTCACTTTCCCTTCCCAGGTCACAGAGTGGCCGAGAGGCAGGGAAAATAGAAGGCAGGCCCAAGGCCTCCAGCTCCACGTCCACCTCTAACATGGTCCCCTCCACAGGATTCCACCTCAACAACCAGCTCTATGACATCATTACCATGCAGTACGCAGACAAACACATGAACATCGACTTTGACAGTTTCATCTGCTGCTTCGTTAGGCTGGAGGGCATGTTCAGTAAGTGGGAGAGGGGGGCTGCCCTCTGCTCTCTTGCAGGGGCAGTTGTGGCAACAGGCATCTCACCTGATAATCTCCAGTCTGCTCCATCCAGGCTGAACAAGGGCCAATGACCTCTTTAGGCCCAGAATGGGATGGCAAAGGGAGGGTTACTGGTGATTCTCTGCCTGCACATCTTTGTGCTGATGAGGGACAGCACTGGGCACATGGTCCTCTGAGGGGAAGTTACAGTAGTAGAGGCGGAGTGCGCCTGTAACTGGCCTCTGGCCTGTGCATTCTTTCACAGGAGCTTTTCATGCATTTGACAAGGATGGAGATGGTATCATCAAGCTCAACGTTCTGGAGGTAAAGCATAGGCACAGCACATTCCCCCTACACATTAAAACTCAAGGTGGAGGGGTCAACGGGGCGGACTGGACCCAGGGTGTGCTCCTCATTTCCACACAGTGGTGGAGGGAAGGGATAGGAACAGAACATGGAGGGAGGCTCAGCAGGCTCCCAGGACACATGCACTTGAGGCCCAAAAGGACCTCTGCTCCCCCAGTCACTTGATGCGGGAAAACATGCACCTTCTTAGGGAAGATCTAGGAGAAAGGAAACAGTAAGCCACTGCTTCTTGGAAAATCTTCTGGGGGTCTGACCTGCTGGGACTGTTCCCTTTCCTCTTGCCCCGTAAGATTCCTAGGGCGGGGGGGGGGGGGGTCACTCTTTTCTGATCTACATTCTGATCTTGGGACTTCTTTCAGTGGCTGCAGCTCACCATGTATGCCTGAACCAGGCTGGCCTCATCCAAAGCCATGCAGGATCACTCAGGATTTCAGTTTCACCCTCTATTTCCAAAGCCATTTACCTCAAAGGACCCAGCAGCTACACCCCTACAGGCTTCCAGGCACCTCATCAGTCATGCTCCTCCTCCATTTTACCCCCTACCCATCCTTGATCGGTCATGCCTAGCCTGACCCTTTAGTAAAGCAATGAGGTAGGAAGAACAAACCCTTGTCCCTTTGCCATGTGGAGGAAAGTGCCTGCCTCTGGTCCGAGCCGCCTCGGTTCTGAAGCGAGTGCTCCTGCTTACCTTGCTCTAGGCTGTCTGCAGAAGCACCTGCCGGTGGCACTCAGCACCTCCTTGTGCTAGAGCCCTCCATCACCTTCACGCTGTCCCACCATGGGCCAGGAACCAAACCAGCACTGGGTTCTACTGCTGTGGGGTAAACTAACTCAGTGGAATAGGGCTGGTTACTTTGGGCTGTCCAACTCATAAGTTTGGCTGCATTTTGAAAAAAGCTGATCTAAATAAAGGCATGTGTATGGCTGGTCCCCTTGTGTTTTGTTGTCTCACATTTAGATATCAGCCATGCATGACTGAATGGCTTCCAATCATATACTCACCTATCACCTACAAGAGAACAATGAAAAACACACACAAAAACAAAATCTTGAATTTTGTAATCATGCCTATTGCTATTTCTTGAGCATAAGAATGGCTCAGATACTTTCCAAGACATAAAAGGAAGGCAGAGGAATAGTTGTTGCTGTAAAAGACATCAAGAATAAATGGGTCATGTACAACGGGAGGGGCCGGTTACCTGAATAATGGAGTGGAGATTGAGCTATCCTAGCTCCTCTGCTCACTAACTGACCTGTCGCATGACCGTGGACAAAACCCTGAACGCAGCTGTTTGTTTGCTAAACTTCTCTGGACCATGGCCTGCGGCATATCTATAGGCATCCTGTGTTTTCCACCCAGTTTCCTTCTTCCTCGCTAAGCCAACGTGGAAAGGGCTGGCCGTGAATATGCAGACAAGGTAACGAAAGTAAACCGTCAATTAGTAAAAGTACTTTATTTTCCTCTTGTATTTGCTTTATATCTTGCTTTACAAAGTTACGAAGTTCACAGCTTTATACCAAAATGTAAGAAGGCTATTTGCTTATAAACATTTTTGCAGTCAGGTGTCATCTGATTTCATTCTTCT
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Task1_train_20599
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This sequence change occurs on Chromosome 15, altering CAPN3 (calpain 3). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Muscular dystrophy, limb-girdle, autosomal dominant 4
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CTATCTGGGGCCTCATGCAGTGGGGCCTAGGGGAGGTTCTCTGAGGACTTGGCCTTGATGACAGGGTGGCTGGAGGAATCAGAACGGTCAGACCTTCTTTGACCTGCGGGCACCTTTAGTTGGAATGGTCAGGCCTGGGATGGTGGAGGGGGCTCTTGCAGGTGGGGACTGGGGTGGCGGGGAGGAGGCTGTATGGCCGCCATATCTCCTTTGGCTGGGGGCGTCAGGGCTGGAGAGGTGTGAAGAGTCCCTGAGGCCTCGATGCATCTCACTCCAGCTCACCAGGTCTGCATTTGCCCGTCCCCAGCTCCTGCTGCCACCTCCGGCCGTTTTAGGCACTTGGCTCCCTTGGCCCAGAGGAGCTTGCCTCACAGGCCTGTGCACCTCTGACCCCTGTGAACCAGTTTTCCTTTGTGCCTCCACAGCCACAGCCTGGCAGCTCTGATCAGGAAAGTGAGGAACAGCAACAATTCCGGAACATTTTCAAGCAGATAGCAGGAGATGTGAGTACCTCCAAGCCCAGGACGCCCACAGGTGCTTCCTTCTCTCCTGGATTAACTGCTCAGATTACCAATTATTTCATTATTGTTTGGTAGAGGTCACTTTGGACTTTGGTGGAGCCAGGGGATGTGTGCGTAGCACACAAATCCACAAGCCCTTGAGTTTTGGACTGCCACGTCTGCTGGGGGGCTCAGAGGCCTTTTTGCTCTGAGCTGCCCACGGTGGTCCTGATAGCTGAGGTGCAGTATCTGGCCCCCTGTCTTCCTCAGAAAAGCCCCAGCTTCCCATGACATAATAGCACCGACAGGGATTTTACAAACACAGCCAGGTGGAATTTGTTTTGCAAAGTGTCCGCGCCAGGAGCTGCTGTACTCCTGAACCATGACCCTCCTCTCCCTTCCTCCTCAGGACATGGAGATCTGTGCAGATGAGCTCAAGAAGGTCCTTAACACAGTCGTGAACAAACGTGAGTTGCTCAAACCAAATGGGGGTGGGGTGGGTGGGGAGTCCCGTTGTCTCAAAGCAGCTCCTCACTCTTCTCCATCCCCCCAGACAAGGACCTGAAGACACACGGGTTCACACTGGAGTCCTGCCGTAGCATGATTGCGCTCATGGATGTATCCTTCCTGCCGCCCCTTCCCGACCCTCTGTCATCAGCCCACGGGGGCCAAGGCAACATACAGGGTGCCCAGTCAGGCAAAGGGCCCTAATTTGTGCCCAGGGAAACTTAAGGAGACCCTGATTCAGAACATCTTGGATACTCGTCTGAAAGGGGTTGTTAGAGGCGGAAGGGGAGGATGTTGGGTTGTAACTGCCCTAACCCCTGTGCTTCTCTCAGGCCTGGGATCCTGCCCAAGCAAAAGTGGTCCTTAGGAGAGCGGCTCCTGGGTTACAGAGTAGGCGCAATCTCTGACTGGTGGTGGAGTGGAGGGGAGGGTTAAATAGTACAACAGGGCAGTGGGTAGGACAGCCCGGAGTCTCCTAGACCCTCCCTCCAAATCCAGGGGGATTTTGCTGTGTGCTGTGTAGCCCTGACCTCCCTCCTCCAGACAGATGGCTCTGGAAAGCTCAACCTGCAGGAGTTCCACCACCTCTGGAACAAGATTAAGGCCTGGCAGGTGGGAAGAGAAAATGAAGCGTGGGAGTCAAGAATGGGGTTGATTTGGAGATTCAGTGTGTGACCTCCATCCTCAAATTTTCTATTGCCAGAAAATTTTCAAACACTATGACACAGACCAGTCCGGCACCATCAACAGCTACGAGATGCGAAATGCAGTCAACGACGCAGGTGCTGAGAAGGAAGGGGTGGCAGGGATGTGGACCCGAGACGGTGGGAGCAGGAATGGGAGGGGACTAGGCTACTAGGGCCCCACTAGAGAAAGGAGAGGGAAAGGGCTTCTCACTTTCCCTTCCCAGGTCACAGAGTGGCCGAGAGGCAGGGAAAATAGAAGGCAGGCCCAAGGCCTCCAGCTCCACGTCCACCTCTAACATGGTCCCCTCCACAGGATTCCACCTCAACAACCAGCTCTATGACATCATTACCATGCGGTACGCAGACAAACACATGAACATCGACTTTGACAGTTTCATCTGCTGCTTCGTTAGGCTGGAGGGCATGTTCAGTAAGTGGGAGAGGGGGGCTGCCCTCTGCTCTCTTGCAGGGGCAGTTGTGGCAACAGGCATCTCACCTGATAATCTCCAGTCTGCTCCATCCAGGCTGAACAAGGGCCAATGACCTCTTTAGGCCCAGAATGGGATGGCAAAGGGAGGGTTACTGGTGATTCTCTGCCTGCACATCTTTGTGCTGATGAGGGACAGCACTGGGCACATGGTCCTCTGAGGGGAAGTTACAGTAGTAGAGGCGGAGTGCGCCTGTAACTGGCCTCTGGCCTGTGCATTCTTTCACAGGAGCTTTTCATGCATTTGACAAGGATGGAGATGGTATCATCAAGCTCAACGTTCTGGAGGTAAAGCATAGGCACAGCACATTCCCCCTACACATTAAAACTCAAGGTGGAGGGGTCAACGGGGCGGACTGGACCCAGGGTGTGCTCCTCATTTCCACACAGTGGTGGAGGGAAGGGATAGGAACAGAACATGGAGGGAGGCTCAGCAGGCTCCCAGGACACATGCACTTGAGGCCCAAAAGGACCTCTGCTCCCCCAGTCACTTGATGCGGGAAAACATGCACCTTCTTAGGGAAGATCTAGGAGAAAGGAAACAGTAAGCCACTGCTTCTTGGAAAATCTTCTGGGGGTCTGACCTGCTGGGACTGTTCCCTTTCCTCTTGCCCCGTAAGATTCCTAGGGCGGGGGGGGGGGGGGTCACTCTTTTCTGATCTACATTCTGATCTTGGGACTTCTTTCAGTGGCTGCAGCTCACCATGTATGCCTGAACCAGGCTGGCCTCATCCAAAGCCATGCAGGATCACTCAGGATTTCAGTTTCACCCTCTATTTCCAAAGCCATTTACCTCAAAGGACCCAGCAGCTACACCCCTACAGGCTTCCAGGCACCTCATCAGTCATGCTCCTCCTCCATTTTACCCCCTACCCATCCTTGATCGGTCATGCCTAGCCTGACCCTTTAGTAAAGCAATGAGGTAGGAAGAACAAACCCTTGTCCCTTTGCCATGTGGAGGAAAGTGCCTGCCTCTGGTCCGAGCCGCCTCGGTTCTGAAGCGAGTGCTCCTGCTTACCTTGCTCTAGGCTGTCTGCAGAAGCACCTGCCGGTGGCACTCAGCACCTCCTTGTGCTAGAGCCCTCCATCACCTTCACGCTGTCCCACCATGGGCCAGGAACCAAACCAGCACTGGGTTCTACTGCTGTGGGGTAAACTAACTCAGTGGAATAGGGCTGGTTACTTTGGGCTGTCCAACTCATAAGTTTGGCTGCATTTTGAAAAAAGCTGATCTAAATAAAGGCATGTGTATGGCTGGTCCCCTTGTGTTTTGTTGTCTCACATTTAGATATCAGCCATGCATGACTGAATGGCTTCCAATCATATACTCACCTATCACCTACAAGAGAACAATGAAAAACACACACAAAAACAAAATCTTGAATTTTGTAATCATGCCTATTGCTATTTCTTGAGCATAAGAATGGCTCAGATACTTTCCAAGACATAAAAGGAAGGCAGAGGAATAGTTGTTGCTGTAAAAGACATCAAGAATAAATGGGTCATGTACAACGGGAGGGGCCGGTTACCTGAATAATGGAGTGGAGATTGAGCTATCCTAGCTCCTCTGCTCACTAACTGACCTGTCGCATGACCGTGGACAAAACCCTGAACGCAGCTGTTTGTTTGCTAAACTTCTCTGGACCATGGCCTGCGGCATATCTATAGGCATCCTGTGTTTTCCACCCAGTTTCCTTCTTCCTCGCTAAGCCAACGTGGAAAGGGCTGGCCGTGAATATGCAGACAAGGTAACGAAAGTAAACCGTCAATTAGTAAAAGTACTTTATTTTCCTCTTGTATTTGCTTTATATCTTGCTTTACAAAGTTACGAAGTTCACAGCTTTATACCAAAATGTAAGAAGGCTATTTGCTTATAAACATTTTTGCAGTCAGGTGTCATCTGATTTCATTCTTCT
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CTATCTGGGGCCTCATGCAGTGGGGCCTAGGGGAGGTTCTCTGAGGACTTGGCCTTGATGACAGGGTGGCTGGAGGAATCAGAACGGTCAGACCTTCTTTGACCTGCGGGCACCTTTAGTTGGAATGGTCAGGCCTGGGATGGTGGAGGGGGCTCTTGCAGGTGGGGACTGGGGTGGCGGGGAGGAGGCTGTATGGCCGCCATATCTCCTTTGGCTGGGGGCGTCAGGGCTGGAGAGGTGTGAAGAGTCCCTGAGGCCTCGATGCATCTCACTCCAGCTCACCAGGTCTGCATTTGCCCGTCCCCAGCTCCTGCTGCCACCTCCGGCCGTTTTAGGCACTTGGCTCCCTTGGCCCAGAGGAGCTTGCCTCACAGGCCTGTGCACCTCTGACCCCTGTGAACCAGTTTTCCTTTGTGCCTCCACAGCCACAGCCTGGCAGCTCTGATCAGGAAAGTGAGGAACAGCAACAATTCCGGAACATTTTCAAGCAGATAGCAGGAGATGTGAGTACCTCCAAGCCCAGGACGCCCACAGGTGCTTCCTTCTCTCCTGGATTAACTGCTCAGATTACCAATTATTTCATTATTGTTTGGTAGAGGTCACTTTGGACTTTGGTGGAGCCAGGGGATGTGTGCGTAGCACACAAATCCACAAGCCCTTGAGTTTTGGACTGCCACGTCTGCTGGGGGGCTCAGAGGCCTTTTTGCTCTGAGCTGCCCACGGTGGTCCTGATAGCTGAGGTGCAGTATCTGGCCCCCTGTCTTCCTCAGAAAAGCCCCAGCTTCCCATGACATAATAGCACCGACAGGGATTTTACAAACACAGCCAGGTGGAATTTGTTTTGCAAAGTGTCCGCGCCAGGAGCTGCTGTACTCCTGAACCATGACCCTCCTCTCCCTTCCTCCTCAGGACATGGAGATCTGTGCAGATGAGCTCAAGAAGGTCCTTAACACAGTCGTGAACAAACGTGAGTTGCTCAAACCAAATGGGGGTGGGGTGGGTGGGGAGTCCCGTTGTCTCAAAGCAGCTCCTCACTCTTCTCCATCCCCCCAGACAAGGACCTGAAGACACACGGGTTCACACTGGAGTCCTGCCGTAGCATGATTGCGCTCATGGATGTATCCTTCCTGCCGCCCCTTCCCGACCCTCTGTCATCAGCCCACGGGGGCCAAGGCAACATACAGGGTGCCCAGTCAGGCAAAGGGCCCTAATTTGTGCCCAGGGAAACTTAAGGAGACCCTGATTCAGAACATCTTGGATACTCGTCTGAAAGGGGTTGTTAGAGGCGGAAGGGGAGGATGTTGGGTTGTAACTGCCCTAACCCCTGTGCTTCTCTCAGGCCTGGGATCCTGCCCAAGCAAAAGTGGTCCTTAGGAGAGCGGCTCCTGGGTTACAGAGTAGGCGCAATCTCTGACTGGTGGTGGAGTGGAGGGGAGGGTTAAATAGTACAACAGGGCAGTGGGTAGGACAGCCCGGAGTCTCCTAGACCCTCCCTCCAAATCCAGGGGGATTTTGCTGTGTGCTGTGTAGCCCTGACCTCCCTCCTCCAGACAGATGGCTCTGGAAAGCTCAACCTGCAGGAGTTCCACCACCTCTGGAACAAGATTAAGGCCTGGCAGGTGGGAAGAGAAAATGAAGCGTGGGAGTCAAGAATGGGGTTGATTTGGAGATTCAGTGTGTGACCTCCATCCTCAAATTTTCTATTGCCAGAAAATTTTCAAACACTATGACACAGACCAGTCCGGCACCATCAACAGCTACGAGATGCGAAATGCAGTCAACGACGCAGGTGCTGAGAAGGAAGGGGTGGCAGGGATGTGGACCCGAGACGGTGGGAGCAGGAATGGGAGGGGACTAGGCTACTAGGGCCCCACTAGAGAAAGGAGAGGGAAAGGGCTTCTCACTTTCCCTTCCCAGGTCACAGAGTGGCCGAGAGGCAGGGAAAATAGAAGGCAGGCCCAAGGCCTCCAGCTCCACGTCCACCTCTAACATGGTCCCCTCCACAGGATTCCACCTCAACAACCAGCTCTATGACATCATTACCATGCAGTACGCAGACAAACACATGAACATCGACTTTGACAGTTTCATCTGCTGCTTCGTTAGGCTGGAGGGCATGTTCAGTAAGTGGGAGAGGGGGGCTGCCCTCTGCTCTCTTGCAGGGGCAGTTGTGGCAACAGGCATCTCACCTGATAATCTCCAGTCTGCTCCATCCAGGCTGAACAAGGGCCAATGACCTCTTTAGGCCCAGAATGGGATGGCAAAGGGAGGGTTACTGGTGATTCTCTGCCTGCACATCTTTGTGCTGATGAGGGACAGCACTGGGCACATGGTCCTCTGAGGGGAAGTTACAGTAGTAGAGGCGGAGTGCGCCTGTAACTGGCCTCTGGCCTGTGCATTCTTTCACAGGAGCTTTTCATGCATTTGACAAGGATGGAGATGGTATCATCAAGCTCAACGTTCTGGAGGTAAAGCATAGGCACAGCACATTCCCCCTACACATTAAAACTCAAGGTGGAGGGGTCAACGGGGCGGACTGGACCCAGGGTGTGCTCCTCATTTCCACACAGTGGTGGAGGGAAGGGATAGGAACAGAACATGGAGGGAGGCTCAGCAGGCTCCCAGGACACATGCACTTGAGGCCCAAAAGGACCTCTGCTCCCCCAGTCACTTGATGCGGGAAAACATGCACCTTCTTAGGGAAGATCTAGGAGAAAGGAAACAGTAAGCCACTGCTTCTTGGAAAATCTTCTGGGGGTCTGACCTGCTGGGACTGTTCCCTTTCCTCTTGCCCCGTAAGATTCCTAGGGCGGGGGGGGGGGGGGTCACTCTTTTCTGATCTACATTCTGATCTTGGGACTTCTTTCAGTGGCTGCAGCTCACCATGTATGCCTGAACCAGGCTGGCCTCATCCAAAGCCATGCAGGATCACTCAGGATTTCAGTTTCACCCTCTATTTCCAAAGCCATTTACCTCAAAGGACCCAGCAGCTACACCCCTACAGGCTTCCAGGCACCTCATCAGTCATGCTCCTCCTCCATTTTACCCCCTACCCATCCTTGATCGGTCATGCCTAGCCTGACCCTTTAGTAAAGCAATGAGGTAGGAAGAACAAACCCTTGTCCCTTTGCCATGTGGAGGAAAGTGCCTGCCTCTGGTCCGAGCCGCCTCGGTTCTGAAGCGAGTGCTCCTGCTTACCTTGCTCTAGGCTGTCTGCAGAAGCACCTGCCGGTGGCACTCAGCACCTCCTTGTGCTAGAGCCCTCCATCACCTTCACGCTGTCCCACCATGGGCCAGGAACCAAACCAGCACTGGGTTCTACTGCTGTGGGGTAAACTAACTCAGTGGAATAGGGCTGGTTACTTTGGGCTGTCCAACTCATAAGTTTGGCTGCATTTTGAAAAAAGCTGATCTAAATAAAGGCATGTGTATGGCTGGTCCCCTTGTGTTTTGTTGTCTCACATTTAGATATCAGCCATGCATGACTGAATGGCTTCCAATCATATACTCACCTATCACCTACAAGAGAACAATGAAAAACACACACAAAAACAAAATCTTGAATTTTGTAATCATGCCTATTGCTATTTCTTGAGCATAAGAATGGCTCAGATACTTTCCAAGACATAAAAGGAAGGCAGAGGAATAGTTGTTGCTGTAAAAGACATCAAGAATAAATGGGTCATGTACAACGGGAGGGGCCGGTTACCTGAATAATGGAGTGGAGATTGAGCTATCCTAGCTCCTCTGCTCACTAACTGACCTGTCGCATGACCGTGGACAAAACCCTGAACGCAGCTGTTTGTTTGCTAAACTTCTCTGGACCATGGCCTGCGGCATATCTATAGGCATCCTGTGTTTTCCACCCAGTTTCCTTCTTCCTCGCTAAGCCAACGTGGAAAGGGCTGGCCGTGAATATGCAGACAAGGTAACGAAAGTAAACCGTCAATTAGTAAAAGTACTTTATTTTCCTCTTGTATTTGCTTTATATCTTGCTTTACAAAGTTACGAAGTTCACAGCTTTATACCAAAATGTAAGAAGGCTATTTGCTTATAAACATTTTTGCAGTCAGGTGTCATCTGATTTCATTCTTCT
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Subsets and Splits
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