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_1100
|
Here’s a variant in ABCA4 (ATP binding cassette subfamily A member 4) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing?
|
Pathogenic; Retinitis pigmentosa 19
|
ACCGTGGTGTGGGTGGGGCTCTCTGTAGGAGGCATATCTGAGCCTTGGAGCAACTCAAGCCCAGTGAACCAGCTGGGCTCTGAGCCAAGGAACTGCCTCAAGCTGTGGACTGCATAAGCAGCAGGGGTACCTGGGCTTGTCGACTGGCTCCAGCAGCTCGAGGGTGCAGAGGGAGGTCATGACTTTCAGTCTGCTGTTTAGCAAAATTTACAAACACCTAGAGGTAAGAGAAGAGCGAGATTAGGTAGATATTTCCAGGAAAACAGCACCCTACACCCACCTACCCACTTTGCTCTCTATTTTCCACAGTTCACATACAGCCCTGCTGGTATGGCTTGTGTCCTACCCGGGGGAGGCTGGCCCACTCACAGAAGCCTGGCCACCACTGCCCTGGTCAGAGCTAGCTTCTTAGACTAGACTCCTGAGTGATGCCACAGGAGTTCCTGCTGGAGGACTCAAGGGACTTGGGCACCAGACATTGGGGTAATCAAGGCAAGGCAGATTCTCAGCTAGCAGCATCCTAATAACTAAAAAAAAAGGTAATTGATCCCTGTTCAGCTCCTCATTGAGTGTGCAGGTGGCTCCTGCTCGTGCCTCCCTCTGCTTAATGCTGATGAGAAGGTGCAGGTGAGCCAGATCCTCAGGGGTTAAATGGAGACTTCCCTGTTTCCACTGCTTTACTGAACTGTCTCTAAAGATGTTTATTTTTAAAAAAACATATATAAAAACACAAAACCCAGAAACAACCCAAATGTCTATCAATGAATGAATAGATGGATGAACAAAATGTAGCACATATACGTACAAAGGAATATTATTCGGCCTGAAAAAGGAAGGAAATTCTGGCACATGATACAACACGGATGAACCTTGAGGACATTATGCTAAGTCCTCGCATAATAAGCCAGACACAAAAGGACAAACACTGTATGATTCCACTTATATGAGGTATCTATAGTAGTCAGAGCCTTAGAGACAGAAAGTAGAACAGTAGTTGCCAAGGGCGAGGGGGGCAGTAAGTGGTGAGTTAGTGTTTAATGGGCACAGATTTTCACTGAAGCAAGATGAAAGAGTTCTATCGGGGATGGTGGTAACGGTTGCACAACAATGTAAATGTACTTAGTGCCACTGCACTGTGCACTTAAACATGGTTGGCATGGTCAATTTTATGTTATTATATTTTACCGCAATAAAAAATGTGATTACATTTTTAAAAACCACACATGGAATGCACGTTTATCAAAACTCACTAAACTGTACATTTAAAATAGGTGTTTTTGTTTTGTTTTGCTTTTTTGAGACAGGGGCTTGCTCTGTCACCCAGACTAGAGTGCAGTGGTATGAACACAGCTCATTGCAGCCTTGACCTCCTGGGCTCCAGCAATCTTCCTTCCTCAACCTCCCATGTAGATGGGACCACAGGCATGCACCACCACGCCTGGCTAATTTTCTGATTTTTTTTTTTTTTTTCTGTAGAGACAAAGTCTCACTTTGTTACATGGGCCTGTCTTAAACTCCTGGGCTCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGAACCTGTGTTTCATCGTATGTTAATTACACATCAATAAAGCTGATTTGAAGGAAAAACCACCACCACAAACGAGCAAGAATGAAATAACACACCATAGCATCACAGGGAAGGAAAATGTAAAAAAAAGAATCAATGAAGTTTCCTGATGACTAAAAAATATTGTTAGAAAACAATTTCTGATATATCAGCTTTTACCCCAATAAACAGAGGGCAAGAGTTTGTTAAAAATCGGGAATGTTATGCCTCCCTCTTATGGCAATTCCAACCCACACTGGGTGTTCTGGACCAGTCTTTGCTCAGCTCTCGGTGCCCCAGGGCCAACTTGCCTGGTCCAGTGTGGTCTGTGTGACTGAGTACTCCTCGATGAGCAGGCTGTCCTTGTGGGAGAGGAGGAGCTGGAAGATCCTCGCCAGGGAGGAGGAGGAGACCTGGAACTGGAGCATGTTGTAGTGCCTCTCCCTCTGCACACTGCCTGGGAAGTTCCCCTGGAAGAACTGCTCCACAGGGTTCAGGTCAGGAAGCAGGTCGTCCTTCGGGGATTTGATCTTCATTGTGACGATATAGCCATCTCCAAATCTAGGGGATGCACACAGTGCAGGACAGGCCTCTGTTAGTGGTTGGGCCTAAGGTAATCCCAAAATAAGGAGTAGACTCATCAGAAATTTTGGGGATTAAGCTCAGCTTGGTGGCTCACACCTGAAATCCCAGCAATTTGGGAGGTAGAGGTGGGAGGATCACTTGAGCTCAGGAATGTAAGATAAGCCTGGGCAACAAGAAAGACCCTGTCTCTACGAAAATTAGCAGGGCATGGTGGCACATGCCTGTGGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGGATCACTTGAGCATAGGAGGTCAAGGCTACAGTGAGCCATGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAAAAACCGAAAAACAAGAAACAAACCCAAACAAGAACAACAAAAAAAGAAATACTGGGGATTAAAGGCCCATACCATAGACCTGTGTACATACTGAAAACTAGGAGAGAAAAACCATGGTAGTCCCTGGAGAAATCATTTGATACCAGTTTTTAGAGATCAAATGTCTGCATGGTAATGTGGGATAATCGTACTTGCTGAAGTCAAAGGTAGTTTTATTTATTTTATTTTATTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTGAGACAGTCTCACCGTTGCCCAGGCTGGAGTACAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGTCTCCTGAGAGGCTGGAACTACAGGCACCTGCCACCACACTCGGCTAATTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAAGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCTATTTTATTTTTTGAGACAGAGTCTTGCTGTTTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGATTCACTGCAACCTCTGCCTTCTGAGTTCAAGCAATTCTTGTGCCTCAGTTTCCCGAGTAGGTGGGATTACAGGTGCATACCACCATGCCCATCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCTTCCCAAAGTGATAGGATTACAGGTGTAAGCCACTGCACCTGGCCGTCAAAGGTAGTTTTAGCCCAGTGTGGGGATCCCAAGACTGCCCATAAAGACACGTGGACCAGTGCATACTGAGTGGTGGTAAGGGCTGATGGGCCAGGTGGGAGCAAAGGCTCGGGAAGGCAGCACTTCCCTGAGGAAGCTTCCTGAAACAATGGAGCTGCTAGGGCTTGGGCCATTGGTGCTTTCTTTCTCCTTCAGCAGGATGGCTGGTTACCCTCTCTTGGATGAGTGATGGTCCACCAGAGAGTGTGTGCACGGCTAGCGGGTGTCAGTACCCTATGCCCTGGTATCCTGTGTCAGTCATAACTGACTCCAAAGCTTCCTCCACAGTCTAGGGCTGTTCTCCTCTGCAGTAAGATGCAGAGGAGAAAGGCTGTTTACCTTTCAGCTCCAGAAAACTCACCATCCCTCCACACAGGGAACACTCCCCTCTCACCCCCTCTATCATGGAGATATTAAGGAGCTGGAGGGAAAGGAATAGGAGACTTCCCTTTCTCCAGCAGTTGGACACAGGAAGTTGCTGACACAGGTCTGGTGACCTGACATGCTGCTATTTCTATAGATATCTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGG
|
ACCGTGGTGTGGGTGGGGCTCTCTGTAGGAGGCATATCTGAGCCTTGGAGCAACTCAAGCCCAGTGAACCAGCTGGGCTCTGAGCCAAGGAACTGCCTCAAGCTGTGGACTGCATAAGCAGCAGGGGTACCTGGGCTTGTCGACTGGCTCCAGCAGCTCGAGGGTGCAGAGGGAGGTCATGACTTTCAGTCTGCTGTTTAGCAAAATTTACAAACACCTAGAGGTAAGAGAAGAGCGAGATTAGGTAGATATTTCCAGGAAAACAGCACCCTACACCCACCTACCCACTTTGCTCTCTATTTTCCACAGTTCACATACAGCCCTGCTGGTATGGCTTGTGTCCTACCCGGGGGAGGCTGGCCCACTCACAGAAGCCTGGCCACCACTGCCCTGGTCAGAGCTAGCTTCTTAGACTAGACTCCTGAGTGATGCCACAGGAGTTCCTGCTGGAGGACTCAAGGGACTTGGGCACCAGACATTGGGGTAATCAAGGCAAGGCAGATTCTCAGCTAGCAGCATCCTAATAACTAAAAAAAAAGGTAATTGATCCCTGTTCAGCTCCTCATTGAGTGTGCAGGTGGCTCCTGCTCGTGCCTCCCTCTGCTTAATGCTGATGAGAAGGTGCAGGTGAGCCAGATCCTCAGGGGTTAAATGGAGACTTCCCTGTTTCCACTGCTTTACTGAACTGTCTCTAAAGATGTTTATTTTTAAAAAAACATATATAAAAACACAAAACCCAGAAACAACCCAAATGTCTATCAATGAATGAATAGATGGATGAACAAAATGTAGCACATATACGTACAAAGGAATATTATTCGGCCTGAAAAAGGAAGGAAATTCTGGCACATGATACAACACGGATGAACCTTGAGGACATTATGCTAAGTCCTCGCATAATAAGCCAGACACAAAAGGACAAACACTGTATGATTCCACTTATATGAGGTATCTATAGTAGTCAGAGCCTTAGAGACAGAAAGTAGAACAGTAGTTGCCAAGGGCGAGGGGGGCAGTAAGTGGTGAGTTAGTGTTTAATGGGCACAGATTTTCACTGAAGCAAGATGAAAGAGTTCTATCGGGGATGGTGGTAACGGTTGCACAACAATGTAAATGTACTTAGTGCCACTGCACTGTGCACTTAAACATGGTTGGCATGGTCAATTTTATGTTATTATATTTTACCGCAATAAAAAATGTGATTACATTTTTAAAAACCACACATGGAATGCACGTTTATCAAAACTCACTAAACTGTACATTTAAAATAGGTGTTTTTGTTTTGTTTTGCTTTTTTGAGACAGGGGCTTGCTCTGTCACCCAGACTAGAGTGCAGTGGTATGAACACAGCTCATTGCAGCCTTGACCTCCTGGGCTCCAGCAATCTTCCTTCCTCAACCTCCCATGTAGATGGGACCACAGGCATGCACCACCACGCCTGGCTAATTTTCTGATTTTTTTTTTTTTTTTCTGTAGAGACAAAGTCTCACTTTGTTACATGGGCCTGTCTTAAACTCCTGGGCTCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGAACCTGTGTTTCATCGTATGTTAATTACACATCAATAAAGCTGATTTGAAGGAAAAACCACCACCACAAACGAGCAAGAATGAAATAACACACCATAGCATCACAGGGAAGGAAAATGTAAAAAAAAGAATCAATGAAGTTTCCTGATGACTAAAAAATATTGTTAGAAAACAATTTCTGATATATCAGCTTTTACCCCAATAAACAGAGGGCAAGAGTTTGTTAAAAATCGGGAATGTTATGCCTCCCTCTTATGGCAATTCCAACCCACACTGGGTGTTCTGGACCAGTCTTTGCTCAGCTCTCGGTGCCCCAGGGCCAACTTGCCTGGTCCAGTGTGGTCTGTGTGACTGAGTACTCCTCGATGAGCAGGCTGTCCTTGTGGGAGAGGAGGAGCTGGAAGATCCTCGCCAGGGAGGAGGAGGAGACCTGGAACTGGAGCATGTTGTAGTGCCTCTCCCTCTGCACACTGCCTGGGAAGTTCCCCTGGAAGGACTGCTCCACAGGGTTCAGGTCAGGAAGCAGGTCGTCCTTCGGGGATTTGATCTTCATTGTGACGATATAGCCATCTCCAAATCTAGGGGATGCACACAGTGCAGGACAGGCCTCTGTTAGTGGTTGGGCCTAAGGTAATCCCAAAATAAGGAGTAGACTCATCAGAAATTTTGGGGATTAAGCTCAGCTTGGTGGCTCACACCTGAAATCCCAGCAATTTGGGAGGTAGAGGTGGGAGGATCACTTGAGCTCAGGAATGTAAGATAAGCCTGGGCAACAAGAAAGACCCTGTCTCTACGAAAATTAGCAGGGCATGGTGGCACATGCCTGTGGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGGATCACTTGAGCATAGGAGGTCAAGGCTACAGTGAGCCATGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAAAAACCGAAAAACAAGAAACAAACCCAAACAAGAACAACAAAAAAAGAAATACTGGGGATTAAAGGCCCATACCATAGACCTGTGTACATACTGAAAACTAGGAGAGAAAAACCATGGTAGTCCCTGGAGAAATCATTTGATACCAGTTTTTAGAGATCAAATGTCTGCATGGTAATGTGGGATAATCGTACTTGCTGAAGTCAAAGGTAGTTTTATTTATTTTATTTTATTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTGAGACAGTCTCACCGTTGCCCAGGCTGGAGTACAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGTCTCCTGAGAGGCTGGAACTACAGGCACCTGCCACCACACTCGGCTAATTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAAGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCTATTTTATTTTTTGAGACAGAGTCTTGCTGTTTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGATTCACTGCAACCTCTGCCTTCTGAGTTCAAGCAATTCTTGTGCCTCAGTTTCCCGAGTAGGTGGGATTACAGGTGCATACCACCATGCCCATCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCTTCCCAAAGTGATAGGATTACAGGTGTAAGCCACTGCACCTGGCCGTCAAAGGTAGTTTTAGCCCAGTGTGGGGATCCCAAGACTGCCCATAAAGACACGTGGACCAGTGCATACTGAGTGGTGGTAAGGGCTGATGGGCCAGGTGGGAGCAAAGGCTCGGGAAGGCAGCACTTCCCTGAGGAAGCTTCCTGAAACAATGGAGCTGCTAGGGCTTGGGCCATTGGTGCTTTCTTTCTCCTTCAGCAGGATGGCTGGTTACCCTCTCTTGGATGAGTGATGGTCCACCAGAGAGTGTGTGCACGGCTAGCGGGTGTCAGTACCCTATGCCCTGGTATCCTGTGTCAGTCATAACTGACTCCAAAGCTTCCTCCACAGTCTAGGGCTGTTCTCCTCTGCAGTAAGATGCAGAGGAGAAAGGCTGTTTACCTTTCAGCTCCAGAAAACTCACCATCCCTCCACACAGGGAACACTCCCCTCTCACCCCCTCTATCATGGAGATATTAAGGAGCTGGAGGGAAAGGAATAGGAGACTTCCCTTTCTCCAGCAGTTGGACACAGGAAGTTGCTGACACAGGTCTGGTGACCTGACATGCTGCTATTTCTATAGATATCTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGG
|
Task1_train_1101
|
This sequence change occurs on Chromosome 1, altering ABCA4 (ATP binding cassette subfamily A member 4). What is the medical significance of this variant — is it benign or linked to a disease?
|
Pathogenic; Severe early-childhood-onset retinal dystrophy
|
ACCGTGGTGTGGGTGGGGCTCTCTGTAGGAGGCATATCTGAGCCTTGGAGCAACTCAAGCCCAGTGAACCAGCTGGGCTCTGAGCCAAGGAACTGCCTCAAGCTGTGGACTGCATAAGCAGCAGGGGTACCTGGGCTTGTCGACTGGCTCCAGCAGCTCGAGGGTGCAGAGGGAGGTCATGACTTTCAGTCTGCTGTTTAGCAAAATTTACAAACACCTAGAGGTAAGAGAAGAGCGAGATTAGGTAGATATTTCCAGGAAAACAGCACCCTACACCCACCTACCCACTTTGCTCTCTATTTTCCACAGTTCACATACAGCCCTGCTGGTATGGCTTGTGTCCTACCCGGGGGAGGCTGGCCCACTCACAGAAGCCTGGCCACCACTGCCCTGGTCAGAGCTAGCTTCTTAGACTAGACTCCTGAGTGATGCCACAGGAGTTCCTGCTGGAGGACTCAAGGGACTTGGGCACCAGACATTGGGGTAATCAAGGCAAGGCAGATTCTCAGCTAGCAGCATCCTAATAACTAAAAAAAAAGGTAATTGATCCCTGTTCAGCTCCTCATTGAGTGTGCAGGTGGCTCCTGCTCGTGCCTCCCTCTGCTTAATGCTGATGAGAAGGTGCAGGTGAGCCAGATCCTCAGGGGTTAAATGGAGACTTCCCTGTTTCCACTGCTTTACTGAACTGTCTCTAAAGATGTTTATTTTTAAAAAAACATATATAAAAACACAAAACCCAGAAACAACCCAAATGTCTATCAATGAATGAATAGATGGATGAACAAAATGTAGCACATATACGTACAAAGGAATATTATTCGGCCTGAAAAAGGAAGGAAATTCTGGCACATGATACAACACGGATGAACCTTGAGGACATTATGCTAAGTCCTCGCATAATAAGCCAGACACAAAAGGACAAACACTGTATGATTCCACTTATATGAGGTATCTATAGTAGTCAGAGCCTTAGAGACAGAAAGTAGAACAGTAGTTGCCAAGGGCGAGGGGGGCAGTAAGTGGTGAGTTAGTGTTTAATGGGCACAGATTTTCACTGAAGCAAGATGAAAGAGTTCTATCGGGGATGGTGGTAACGGTTGCACAACAATGTAAATGTACTTAGTGCCACTGCACTGTGCACTTAAACATGGTTGGCATGGTCAATTTTATGTTATTATATTTTACCGCAATAAAAAATGTGATTACATTTTTAAAAACCACACATGGAATGCACGTTTATCAAAACTCACTAAACTGTACATTTAAAATAGGTGTTTTTGTTTTGTTTTGCTTTTTTGAGACAGGGGCTTGCTCTGTCACCCAGACTAGAGTGCAGTGGTATGAACACAGCTCATTGCAGCCTTGACCTCCTGGGCTCCAGCAATCTTCCTTCCTCAACCTCCCATGTAGATGGGACCACAGGCATGCACCACCACGCCTGGCTAATTTTCTGATTTTTTTTTTTTTTTTCTGTAGAGACAAAGTCTCACTTTGTTACATGGGCCTGTCTTAAACTCCTGGGCTCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGAACCTGTGTTTCATCGTATGTTAATTACACATCAATAAAGCTGATTTGAAGGAAAAACCACCACCACAAACGAGCAAGAATGAAATAACACACCATAGCATCACAGGGAAGGAAAATGTAAAAAAAAGAATCAATGAAGTTTCCTGATGACTAAAAAATATTGTTAGAAAACAATTTCTGATATATCAGCTTTTACCCCAATAAACAGAGGGCAAGAGTTTGTTAAAAATCGGGAATGTTATGCCTCCCTCTTATGGCAATTCCAACCCACACTGGGTGTTCTGGACCAGTCTTTGCTCAGCTCTCGGTGCCCCAGGGCCAACTTGCCTGGTCCAGTGTGGTCTGTGTGACTGAGTACTCCTCGATGAGCAGGCTGTCCTTGTGGGAGAGGAGGAGCTGGAAGATCCTCGCCAGGGAGGAGGAGGAGACCTGGAACTGGAGCATGTTGTAGTGCCTCTCCCTCTGCACACTGCCTGGGAAGTTCCCCTGGAAGAACTGCTCCACAGGGTTCAGGTCAGGAAGCAGGTCGTCCTTCGGGGATTTGATCTTCATTGTGACGATATAGCCATCTCCAAATCTAGGGGATGCACACAGTGCAGGACAGGCCTCTGTTAGTGGTTGGGCCTAAGGTAATCCCAAAATAAGGAGTAGACTCATCAGAAATTTTGGGGATTAAGCTCAGCTTGGTGGCTCACACCTGAAATCCCAGCAATTTGGGAGGTAGAGGTGGGAGGATCACTTGAGCTCAGGAATGTAAGATAAGCCTGGGCAACAAGAAAGACCCTGTCTCTACGAAAATTAGCAGGGCATGGTGGCACATGCCTGTGGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGGATCACTTGAGCATAGGAGGTCAAGGCTACAGTGAGCCATGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAAAAACCGAAAAACAAGAAACAAACCCAAACAAGAACAACAAAAAAAGAAATACTGGGGATTAAAGGCCCATACCATAGACCTGTGTACATACTGAAAACTAGGAGAGAAAAACCATGGTAGTCCCTGGAGAAATCATTTGATACCAGTTTTTAGAGATCAAATGTCTGCATGGTAATGTGGGATAATCGTACTTGCTGAAGTCAAAGGTAGTTTTATTTATTTTATTTTATTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTGAGACAGTCTCACCGTTGCCCAGGCTGGAGTACAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGTCTCCTGAGAGGCTGGAACTACAGGCACCTGCCACCACACTCGGCTAATTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAAGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCTATTTTATTTTTTGAGACAGAGTCTTGCTGTTTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGATTCACTGCAACCTCTGCCTTCTGAGTTCAAGCAATTCTTGTGCCTCAGTTTCCCGAGTAGGTGGGATTACAGGTGCATACCACCATGCCCATCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCTTCCCAAAGTGATAGGATTACAGGTGTAAGCCACTGCACCTGGCCGTCAAAGGTAGTTTTAGCCCAGTGTGGGGATCCCAAGACTGCCCATAAAGACACGTGGACCAGTGCATACTGAGTGGTGGTAAGGGCTGATGGGCCAGGTGGGAGCAAAGGCTCGGGAAGGCAGCACTTCCCTGAGGAAGCTTCCTGAAACAATGGAGCTGCTAGGGCTTGGGCCATTGGTGCTTTCTTTCTCCTTCAGCAGGATGGCTGGTTACCCTCTCTTGGATGAGTGATGGTCCACCAGAGAGTGTGTGCACGGCTAGCGGGTGTCAGTACCCTATGCCCTGGTATCCTGTGTCAGTCATAACTGACTCCAAAGCTTCCTCCACAGTCTAGGGCTGTTCTCCTCTGCAGTAAGATGCAGAGGAGAAAGGCTGTTTACCTTTCAGCTCCAGAAAACTCACCATCCCTCCACACAGGGAACACTCCCCTCTCACCCCCTCTATCATGGAGATATTAAGGAGCTGGAGGGAAAGGAATAGGAGACTTCCCTTTCTCCAGCAGTTGGACACAGGAAGTTGCTGACACAGGTCTGGTGACCTGACATGCTGCTATTTCTATAGATATCTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGG
|
ACCGTGGTGTGGGTGGGGCTCTCTGTAGGAGGCATATCTGAGCCTTGGAGCAACTCAAGCCCAGTGAACCAGCTGGGCTCTGAGCCAAGGAACTGCCTCAAGCTGTGGACTGCATAAGCAGCAGGGGTACCTGGGCTTGTCGACTGGCTCCAGCAGCTCGAGGGTGCAGAGGGAGGTCATGACTTTCAGTCTGCTGTTTAGCAAAATTTACAAACACCTAGAGGTAAGAGAAGAGCGAGATTAGGTAGATATTTCCAGGAAAACAGCACCCTACACCCACCTACCCACTTTGCTCTCTATTTTCCACAGTTCACATACAGCCCTGCTGGTATGGCTTGTGTCCTACCCGGGGGAGGCTGGCCCACTCACAGAAGCCTGGCCACCACTGCCCTGGTCAGAGCTAGCTTCTTAGACTAGACTCCTGAGTGATGCCACAGGAGTTCCTGCTGGAGGACTCAAGGGACTTGGGCACCAGACATTGGGGTAATCAAGGCAAGGCAGATTCTCAGCTAGCAGCATCCTAATAACTAAAAAAAAAGGTAATTGATCCCTGTTCAGCTCCTCATTGAGTGTGCAGGTGGCTCCTGCTCGTGCCTCCCTCTGCTTAATGCTGATGAGAAGGTGCAGGTGAGCCAGATCCTCAGGGGTTAAATGGAGACTTCCCTGTTTCCACTGCTTTACTGAACTGTCTCTAAAGATGTTTATTTTTAAAAAAACATATATAAAAACACAAAACCCAGAAACAACCCAAATGTCTATCAATGAATGAATAGATGGATGAACAAAATGTAGCACATATACGTACAAAGGAATATTATTCGGCCTGAAAAAGGAAGGAAATTCTGGCACATGATACAACACGGATGAACCTTGAGGACATTATGCTAAGTCCTCGCATAATAAGCCAGACACAAAAGGACAAACACTGTATGATTCCACTTATATGAGGTATCTATAGTAGTCAGAGCCTTAGAGACAGAAAGTAGAACAGTAGTTGCCAAGGGCGAGGGGGGCAGTAAGTGGTGAGTTAGTGTTTAATGGGCACAGATTTTCACTGAAGCAAGATGAAAGAGTTCTATCGGGGATGGTGGTAACGGTTGCACAACAATGTAAATGTACTTAGTGCCACTGCACTGTGCACTTAAACATGGTTGGCATGGTCAATTTTATGTTATTATATTTTACCGCAATAAAAAATGTGATTACATTTTTAAAAACCACACATGGAATGCACGTTTATCAAAACTCACTAAACTGTACATTTAAAATAGGTGTTTTTGTTTTGTTTTGCTTTTTTGAGACAGGGGCTTGCTCTGTCACCCAGACTAGAGTGCAGTGGTATGAACACAGCTCATTGCAGCCTTGACCTCCTGGGCTCCAGCAATCTTCCTTCCTCAACCTCCCATGTAGATGGGACCACAGGCATGCACCACCACGCCTGGCTAATTTTCTGATTTTTTTTTTTTTTTTCTGTAGAGACAAAGTCTCACTTTGTTACATGGGCCTGTCTTAAACTCCTGGGCTCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGAACCTGTGTTTCATCGTATGTTAATTACACATCAATAAAGCTGATTTGAAGGAAAAACCACCACCACAAACGAGCAAGAATGAAATAACACACCATAGCATCACAGGGAAGGAAAATGTAAAAAAAAGAATCAATGAAGTTTCCTGATGACTAAAAAATATTGTTAGAAAACAATTTCTGATATATCAGCTTTTACCCCAATAAACAGAGGGCAAGAGTTTGTTAAAAATCGGGAATGTTATGCCTCCCTCTTATGGCAATTCCAACCCACACTGGGTGTTCTGGACCAGTCTTTGCTCAGCTCTCGGTGCCCCAGGGCCAACTTGCCTGGTCCAGTGTGGTCTGTGTGACTGAGTACTCCTCGATGAGCAGGCTGTCCTTGTGGGAGAGGAGGAGCTGGAAGATCCTCGCCAGGGAGGAGGAGGAGACCTGGAACTGGAGCATGTTGTAGTGCCTCTCCCTCTGCACACTGCCTGGGAAGTTCCCCTGGAAGGACTGCTCCACAGGGTTCAGGTCAGGAAGCAGGTCGTCCTTCGGGGATTTGATCTTCATTGTGACGATATAGCCATCTCCAAATCTAGGGGATGCACACAGTGCAGGACAGGCCTCTGTTAGTGGTTGGGCCTAAGGTAATCCCAAAATAAGGAGTAGACTCATCAGAAATTTTGGGGATTAAGCTCAGCTTGGTGGCTCACACCTGAAATCCCAGCAATTTGGGAGGTAGAGGTGGGAGGATCACTTGAGCTCAGGAATGTAAGATAAGCCTGGGCAACAAGAAAGACCCTGTCTCTACGAAAATTAGCAGGGCATGGTGGCACATGCCTGTGGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGGATCACTTGAGCATAGGAGGTCAAGGCTACAGTGAGCCATGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAAAAACCGAAAAACAAGAAACAAACCCAAACAAGAACAACAAAAAAAGAAATACTGGGGATTAAAGGCCCATACCATAGACCTGTGTACATACTGAAAACTAGGAGAGAAAAACCATGGTAGTCCCTGGAGAAATCATTTGATACCAGTTTTTAGAGATCAAATGTCTGCATGGTAATGTGGGATAATCGTACTTGCTGAAGTCAAAGGTAGTTTTATTTATTTTATTTTATTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTGAGACAGTCTCACCGTTGCCCAGGCTGGAGTACAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGTCTCCTGAGAGGCTGGAACTACAGGCACCTGCCACCACACTCGGCTAATTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAAGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCTATTTTATTTTTTGAGACAGAGTCTTGCTGTTTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGATTCACTGCAACCTCTGCCTTCTGAGTTCAAGCAATTCTTGTGCCTCAGTTTCCCGAGTAGGTGGGATTACAGGTGCATACCACCATGCCCATCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCTTCCCAAAGTGATAGGATTACAGGTGTAAGCCACTGCACCTGGCCGTCAAAGGTAGTTTTAGCCCAGTGTGGGGATCCCAAGACTGCCCATAAAGACACGTGGACCAGTGCATACTGAGTGGTGGTAAGGGCTGATGGGCCAGGTGGGAGCAAAGGCTCGGGAAGGCAGCACTTCCCTGAGGAAGCTTCCTGAAACAATGGAGCTGCTAGGGCTTGGGCCATTGGTGCTTTCTTTCTCCTTCAGCAGGATGGCTGGTTACCCTCTCTTGGATGAGTGATGGTCCACCAGAGAGTGTGTGCACGGCTAGCGGGTGTCAGTACCCTATGCCCTGGTATCCTGTGTCAGTCATAACTGACTCCAAAGCTTCCTCCACAGTCTAGGGCTGTTCTCCTCTGCAGTAAGATGCAGAGGAGAAAGGCTGTTTACCTTTCAGCTCCAGAAAACTCACCATCCCTCCACACAGGGAACACTCCCCTCTCACCCCCTCTATCATGGAGATATTAAGGAGCTGGAGGGAAAGGAATAGGAGACTTCCCTTTCTCCAGCAGTTGGACACAGGAAGTTGCTGACACAGGTCTGGTGACCTGACATGCTGCTATTTCTATAGATATCTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGG
|
Task1_train_1102
|
This variant lies on Chromosome 1 and affects the gene ABCA4 (ATP binding cassette subfamily A member 4). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
|
Pathogenic; Severe early-childhood-onset retinal dystrophy
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CCTCAGTCTCCTGAGAGGCTGGAACTACAGGCACCTGCCACCACACTCGGCTAATTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAAGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCTATTTTATTTTTTGAGACAGAGTCTTGCTGTTTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGATTCACTGCAACCTCTGCCTTCTGAGTTCAAGCAATTCTTGTGCCTCAGTTTCCCGAGTAGGTGGGATTACAGGTGCATACCACCATGCCCATCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCTTCCCAAAGTGATAGGATTACAGGTGTAAGCCACTGCACCTGGCCGTCAAAGGTAGTTTTAGCCCAGTGTGGGGATCCCAAGACTGCCCATAAAGACACGTGGACCAGTGCATACTGAGTGGTGGTAAGGGCTGATGGGCCAGGTGGGAGCAAAGGCTCGGGAAGGCAGCACTTCCCTGAGGAAGCTTCCTGAAACAATGGAGCTGCTAGGGCTTGGGCCATTGGTGCTTTCTTTCTCCTTCAGCAGGATGGCTGGTTACCCTCTCTTGGATGAGTGATGGTCCACCAGAGAGTGTGTGCACGGCTAGCGGGTGTCAGTACCCTATGCCCTGGTATCCTGTGTCAGTCATAACTGACTCCAAAGCTTCCTCCACAGTCTAGGGCTGTTCTCCTCTGCAGTAAGATGCAGAGGAGAAAGGCTGTTTACCTTTCAGCTCCAGAAAACTCACCATCCCTCCACACAGGGAACACTCCCCTCTCACCCCCTCTATCATGGAGATATTAAGGAGCTGGAGGGAAAGGAATAGGAGACTTCCCTTTCTCCAGCAGTTGGACACAGGAAGTTGCTGACACAGGTCTGGTGACCTGACATGCTGCTATTTCTATAGATATCTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAAGTGTTTGTTAAATAAATGAGTAATTGTAACTCTGCTCTTTTCTAGGTTATAAAGCATATCAGAACGTGAATGAGCACGGCAATATGCTGATAATCTTAAACTGTTAGCTTTGGCATGCAAACTCTTAATAATAAGGAATTATCTACAATAGTTTACAATGTGTGGGTACAGGATAAGGATAATCCTATTCAAGATTACTGCCATTGTTGGTTTGTCATATAACATATGGTCTTTTTTCAAACTCAAAAGCATACAATATTCTAAAAACAAAGATGGGTCCTCAAGTCAGTTGGTCTCCTAACCATTCCTACATTGGAGTGGACTCTTAGTAAATAGGCCACAGGTCCCGGATCTGTTGAGATAAGTGGTGAAATATTGAGGCAGTGGTAGCAGCCCTCCCTCATCCCAGCCAGGCTCTGCATGCATCCTGATCAGATGCCCCATCCAGAGACTTGGGCGAGTCTTCGACCACAGGAAATTAGGCCAATATAGAGGAGTTTCTTATCAGCATGATGGCCTTCTCCATCTGCTGCTGGAGAATGAGGCCCAGCCACCACCTGCCTCTGCCCCAGGGGATGACGGAGCAGCAGGACTCTTCCAAGTGTCAATGGAGAACACAGGATCCAGGTGGATCCACAGAAGGCAACAAGGGGCACGCCCCACCATCTGCTTACTTGGACTTGAGATGCTGAATGGTGCCCATACATCGAAAGGCGCCCTTTACCATGATGGCCAGCCGGGTACACAGTGCCTCACATTCTTCCATGCTGTGGGGCAGGAGAGAGGAGGTGAGCAGGAGAGGATTCCCACCCACCTTCCCCAGCCCTGGGAATCTCTTGCCTGTGGGATGTGAGGACCACAGCCCTCCCTTCTCTGATGATGCTCACGATGACGTTCCACAGCATGCGGCGTGCCTGGGGGTCCATCCCTGTGGTGGGCTCATCCTGGGGGGTGGAGAGAAGGTTGGGGGCACAGGCTGGGAGCTGGCCCTTCTGATTACTGCTTCCCCCTGGGCTGGCTCCCCTGTGGAGGATGAGCTGACAGAAGGCGCACACAGTCACTCCCCTCACTTGAGCAAGACAGGGGTACCCTGGTGTAGGGTAGGGAAGGCAGGAGGTGGATCCAAGAGTAAAGAAGCGTGGCGTCCATCCTGGGCCCATTTCAGCCCACGAGGGGATTAAAGTGGATTAAGGCAATGACAGAATTCTCCTCAAAAAAAGAAAATCCTGCAAATACATTTGTCAGAAGGCAGGGAGGTCACTCAGGTCACTTCCTTGGTTCCCGCTATGTCCTGTGCCCTCATGATCCTTGGGCTGCGTGGGCATGGCCTCAGGCCTGGCCTGGCTCAGCTCAGGAGCCTTTGACCCAGCTCAGTGCTCCTGTATGGGGACCAGACACCGACAGGCCGCAGAGTGGGCTGAACTTCCCGGCTGTGAGCCGATGGCCCCACAGGAGACATCCTGGGAACGCAGGATGTGCGCAGTCCCAAGTCAAGGCTGTGCCGTGACTTGTTTTTCTCCGGAGCTGTGTGAACCAAACACTGGGCTGATCGCTCAAAATGAGCAACACAGGAAACAGTCCAGACTAAAGCCAAACTGCTGCAGTTTCTAAATCTGCCGACCCAGAACCTATTTCCCCAACCCAAGAGACCCAGCACTTGGTTTAAGCCCTTGGTGCGGCCCAAGCCCGCAGTTACCAGCAGCACCAGCGGTGGGCAGCCAATGAGTGCGATGGCTGTGGAGAGTTTCCGCTTGTTGCCCCCACTGTACGTGCCAGCCAGGCAGTCGGCGTAGACAGTCAGGCCCAGGCTCTTAATACTCCAGTTTGCAACCTAGGGAAGAGAAAGAAATGCCATTTGGAGAAGACAAGCAAACACCCCAAACCTCCCCCAGTTCAAAGCCTTGGGCTCCCAGATCTCACGCCTCCAGAATGAAATCCCCAGCTAGGCTGAAACAGGCTCCTGCTGGCTCCTGTCCTCTGGCATGTGCTTCAGGCGCCAGACAGGGGCTCTTTCTCTCTGTGTCTTGGATCCCAGGGTGGCCCAGCCTGCTCAGCATCTGTTGGGTGTAGCCGCCTGGGAAATGGACTTCAGCCTTACAAAGAGCAAGACAGTGGGTCTCGCCCAGCGTCCTGGACCATGGCTAGCAGTGGAGGAGGAAGGCTCTGTTTGAGAAGATGGTGAGTCCCAGACCTGTTGATCCCACCCGTCAAGAGGGTTACACCCAAAGCCTTGTGCATCCGACACATACCTATGGAGCACTGACCATACGCCAGGCACTGAACCAGGCACTGGAGAACAATGTGAACACAGCCATTGCTGCTATCCTCAGACTGCGGGGAGGTGGCAGTCAAAATAAACAGAATACTGGCAGATCGTGACAGTGCTGTGAGGGAACGATGACAGAGACACCAGGTGTGTGTGCACATGCGCAGGAGGGGATCTAGGGAAGCCACTGGAGACAAGCTCACCATGCTTCTGCCTTCTATACTAGTCCCCCGTGCCTGGAATGTTCCTCCCTAGGTGTGCACGTGGCTCCTTCTCTCACCTCTAGTTCTTCATTCAGGTTCTCTCCTCTGCAGGCTCTCCCTGGGCCACCCTACCTCAAAATGCAAACCCTGCCCCAGCAGTTCCTCCCTGCGTTACTTTTCCCTGAGGACTTTTCACTCTCTAATGTACTGGATATTTTACCTATTTATCTACAGATCGTCTATCCCTCCCACTAGAATGTAATCTCCATTTTTAACTTTTTATTTGGAAATAGTTTCAAACTCACACAAACATATAG
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CCTCAGTCTCCTGAGAGGCTGGAACTACAGGCACCTGCCACCACACTCGGCTAATTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAAGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCTATTTTATTTTTTGAGACAGAGTCTTGCTGTTTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGATTCACTGCAACCTCTGCCTTCTGAGTTCAAGCAATTCTTGTGCCTCAGTTTCCCGAGTAGGTGGGATTACAGGTGCATACCACCATGCCCATCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCTTCCCAAAGTGATAGGATTACAGGTGTAAGCCACTGCACCTGGCCGTCAAAGGTAGTTTTAGCCCAGTGTGGGGATCCCAAGACTGCCCATAAAGACACGTGGACCAGTGCATACTGAGTGGTGGTAAGGGCTGATGGGCCAGGTGGGAGCAAAGGCTCGGGAAGGCAGCACTTCCCTGAGGAAGCTTCCTGAAACAATGGAGCTGCTAGGGCTTGGGCCATTGGTGCTTTCTTTCTCCTTCAGCAGGATGGCTGGTTACCCTCTCTTGGATGAGTGATGGTCCACCAGAGAGTGTGTGCACGGCTAGCGGGTGTCAGTACCCTATGCCCTGGTATCCTGTGTCAGTCATAACTGACTCCAAAGCTTCCTCCACAGTCTAGGGCTGTTCTCCTCTGCAGTAAGATGCAGAGGAGAAAGGCTGTTTACCTTTCAGCTCCAGAAAACTCACCATCCCTCCACACAGGGAACACTCCCCTCTCACCCCCTCTATCATGGAGATATTAAGGAGCTGGAGGGAAAGGAATAGGAGACTTCCCTTTCTCCAGCAGTTGGACACAGGAAGTTGCTGACACAGGTCTGGTGACCTGACATGCTGCTATTTCTATAGATATCTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAAGTGTTTGTTAAATAAATGAGTAATTGTAACTCTGCTCTTTTCTAGGTTATAAAGCATATCAGAACGTGAATGAGCACGGCAATATGCTGATAATCTTAAACTGTTAGCTTTGGCATGCAAACTCTTAATAATAAGGAATTATCTACAATAGTTTACAATGTGTGGGTACAGGATAAGGATAATCCTATTCAAGATTACTGCCATTGTTGGTTTGTCATATAACATATGGTCTTTTTTCAAACTCAAAAGCATACAATATTCTAAAAACAAAGATGGGTCCTCAAGTCAGTTGGTCTCCTAACCATTCCTACATTGGAGTGGACTCTTAGTAAATAGGCCACAGGTCCCGGATCTGTTGAGATAAGTGGTGAAATATTGAGGCAGTGGTAGCAGCCCTCCCTCATCCCAGCCAGGCTCTGCATGCATCCTGATCAGATGCCCCATCCAGAGACTTGGGCGAGTCTTCGACCACAGGAAATTAGGCCAATATAGAGGAGTTTCTTATCAGCATGATGGCCTTCTCCATCTGCTGCTGGAGAATGAGGCCCAGCCACCACCTGCCTCTGCCCCAGGGGATGACGGAGCAGCAGGACTCTTCCAAGTGTCAATGGAGAACACAGGATCCAGGTGGATCCACAGAAGGCAACAAGGGGCACGCCCCACCATCTGCTTACTTGGACTTGAGATGCTGAATGGTGCCCATACATCGAAAGGCGCCCTTTACCATGATGGCCAGCCAGGTACACAGTGCCTCACATTCTTCCATGCTGTGGGGCAGGAGAGAGGAGGTGAGCAGGAGAGGATTCCCACCCACCTTCCCCAGCCCTGGGAATCTCTTGCCTGTGGGATGTGAGGACCACAGCCCTCCCTTCTCTGATGATGCTCACGATGACGTTCCACAGCATGCGGCGTGCCTGGGGGTCCATCCCTGTGGTGGGCTCATCCTGGGGGGTGGAGAGAAGGTTGGGGGCACAGGCTGGGAGCTGGCCCTTCTGATTACTGCTTCCCCCTGGGCTGGCTCCCCTGTGGAGGATGAGCTGACAGAAGGCGCACACAGTCACTCCCCTCACTTGAGCAAGACAGGGGTACCCTGGTGTAGGGTAGGGAAGGCAGGAGGTGGATCCAAGAGTAAAGAAGCGTGGCGTCCATCCTGGGCCCATTTCAGCCCACGAGGGGATTAAAGTGGATTAAGGCAATGACAGAATTCTCCTCAAAAAAAGAAAATCCTGCAAATACATTTGTCAGAAGGCAGGGAGGTCACTCAGGTCACTTCCTTGGTTCCCGCTATGTCCTGTGCCCTCATGATCCTTGGGCTGCGTGGGCATGGCCTCAGGCCTGGCCTGGCTCAGCTCAGGAGCCTTTGACCCAGCTCAGTGCTCCTGTATGGGGACCAGACACCGACAGGCCGCAGAGTGGGCTGAACTTCCCGGCTGTGAGCCGATGGCCCCACAGGAGACATCCTGGGAACGCAGGATGTGCGCAGTCCCAAGTCAAGGCTGTGCCGTGACTTGTTTTTCTCCGGAGCTGTGTGAACCAAACACTGGGCTGATCGCTCAAAATGAGCAACACAGGAAACAGTCCAGACTAAAGCCAAACTGCTGCAGTTTCTAAATCTGCCGACCCAGAACCTATTTCCCCAACCCAAGAGACCCAGCACTTGGTTTAAGCCCTTGGTGCGGCCCAAGCCCGCAGTTACCAGCAGCACCAGCGGTGGGCAGCCAATGAGTGCGATGGCTGTGGAGAGTTTCCGCTTGTTGCCCCCACTGTACGTGCCAGCCAGGCAGTCGGCGTAGACAGTCAGGCCCAGGCTCTTAATACTCCAGTTTGCAACCTAGGGAAGAGAAAGAAATGCCATTTGGAGAAGACAAGCAAACACCCCAAACCTCCCCCAGTTCAAAGCCTTGGGCTCCCAGATCTCACGCCTCCAGAATGAAATCCCCAGCTAGGCTGAAACAGGCTCCTGCTGGCTCCTGTCCTCTGGCATGTGCTTCAGGCGCCAGACAGGGGCTCTTTCTCTCTGTGTCTTGGATCCCAGGGTGGCCCAGCCTGCTCAGCATCTGTTGGGTGTAGCCGCCTGGGAAATGGACTTCAGCCTTACAAAGAGCAAGACAGTGGGTCTCGCCCAGCGTCCTGGACCATGGCTAGCAGTGGAGGAGGAAGGCTCTGTTTGAGAAGATGGTGAGTCCCAGACCTGTTGATCCCACCCGTCAAGAGGGTTACACCCAAAGCCTTGTGCATCCGACACATACCTATGGAGCACTGACCATACGCCAGGCACTGAACCAGGCACTGGAGAACAATGTGAACACAGCCATTGCTGCTATCCTCAGACTGCGGGGAGGTGGCAGTCAAAATAAACAGAATACTGGCAGATCGTGACAGTGCTGTGAGGGAACGATGACAGAGACACCAGGTGTGTGTGCACATGCGCAGGAGGGGATCTAGGGAAGCCACTGGAGACAAGCTCACCATGCTTCTGCCTTCTATACTAGTCCCCCGTGCCTGGAATGTTCCTCCCTAGGTGTGCACGTGGCTCCTTCTCTCACCTCTAGTTCTTCATTCAGGTTCTCTCCTCTGCAGGCTCTCCCTGGGCCACCCTACCTCAAAATGCAAACCCTGCCCCAGCAGTTCCTCCCTGCGTTACTTTTCCCTGAGGACTTTTCACTCTCTAATGTACTGGATATTTTACCTATTTATCTACAGATCGTCTATCCCTCCCACTAGAATGTAATCTCCATTTTTAACTTTTTATTTGGAAATAGTTTCAAACTCACACAAACATATAG
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Task1_train_1103
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This variant lies on Chromosome 1 and affects the gene ABCA4 (ATP binding cassette subfamily A member 4). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Retinitis pigmentosa
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CCTCAGTCTCCTGAGAGGCTGGAACTACAGGCACCTGCCACCACACTCGGCTAATTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAAGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCTATTTTATTTTTTGAGACAGAGTCTTGCTGTTTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGATTCACTGCAACCTCTGCCTTCTGAGTTCAAGCAATTCTTGTGCCTCAGTTTCCCGAGTAGGTGGGATTACAGGTGCATACCACCATGCCCATCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCTTCCCAAAGTGATAGGATTACAGGTGTAAGCCACTGCACCTGGCCGTCAAAGGTAGTTTTAGCCCAGTGTGGGGATCCCAAGACTGCCCATAAAGACACGTGGACCAGTGCATACTGAGTGGTGGTAAGGGCTGATGGGCCAGGTGGGAGCAAAGGCTCGGGAAGGCAGCACTTCCCTGAGGAAGCTTCCTGAAACAATGGAGCTGCTAGGGCTTGGGCCATTGGTGCTTTCTTTCTCCTTCAGCAGGATGGCTGGTTACCCTCTCTTGGATGAGTGATGGTCCACCAGAGAGTGTGTGCACGGCTAGCGGGTGTCAGTACCCTATGCCCTGGTATCCTGTGTCAGTCATAACTGACTCCAAAGCTTCCTCCACAGTCTAGGGCTGTTCTCCTCTGCAGTAAGATGCAGAGGAGAAAGGCTGTTTACCTTTCAGCTCCAGAAAACTCACCATCCCTCCACACAGGGAACACTCCCCTCTCACCCCCTCTATCATGGAGATATTAAGGAGCTGGAGGGAAAGGAATAGGAGACTTCCCTTTCTCCAGCAGTTGGACACAGGAAGTTGCTGACACAGGTCTGGTGACCTGACATGCTGCTATTTCTATAGATATCTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAAGTGTTTGTTAAATAAATGAGTAATTGTAACTCTGCTCTTTTCTAGGTTATAAAGCATATCAGAACGTGAATGAGCACGGCAATATGCTGATAATCTTAAACTGTTAGCTTTGGCATGCAAACTCTTAATAATAAGGAATTATCTACAATAGTTTACAATGTGTGGGTACAGGATAAGGATAATCCTATTCAAGATTACTGCCATTGTTGGTTTGTCATATAACATATGGTCTTTTTTCAAACTCAAAAGCATACAATATTCTAAAAACAAAGATGGGTCCTCAAGTCAGTTGGTCTCCTAACCATTCCTACATTGGAGTGGACTCTTAGTAAATAGGCCACAGGTCCCGGATCTGTTGAGATAAGTGGTGAAATATTGAGGCAGTGGTAGCAGCCCTCCCTCATCCCAGCCAGGCTCTGCATGCATCCTGATCAGATGCCCCATCCAGAGACTTGGGCGAGTCTTCGACCACAGGAAATTAGGCCAATATAGAGGAGTTTCTTATCAGCATGATGGCCTTCTCCATCTGCTGCTGGAGAATGAGGCCCAGCCACCACCTGCCTCTGCCCCAGGGGATGACGGAGCAGCAGGACTCTTCCAAGTGTCAATGGAGAACACAGGATCCAGGTGGATCCACAGAAGGCAACAAGGGGCACGCCCCACCATCTGCTTACTTGGACTTGAGATGCTGAATGGTGCCCATACATCGAAAGGCGCCCTTTACCATGATGGCCAGCCGGGTACACAGTGCCTCACATTCTTCCATGCTGTGGGGCAGGAGAGAGGAGGTGAGCAGGAGAGGATTCCCACCCACCTTCCCCAGCCCTGGGAATCTCTTGCCTGTGGGATGTGAGGACCACAGCCCTCCCTTCTCTGATGATGCTCACGATGACGTTCCACAGCATGCGGCGTGCCTGGGGGTCCATCCCTGTGGTGGGCTCATCCTGGGGGGTGGAGAGAAGGTTGGGGGCACAGGCTGGGAGCTGGCCCTTCTGATTACTGCTTCCCCCTGGGCTGGCTCCCCTGTGGAGGATGAGCTGACAGAAGGCGCACACAGTCACTCCCCTCACTTGAGCAAGACAGGGGTACCCTGGTGTAGGGTAGGGAAGGCAGGAGGTGGATCCAAGAGTAAAGAAGCGTGGCGTCCATCCTGGGCCCATTTCAGCCCACGAGGGGATTAAAGTGGATTAAGGCAATGACAGAATTCTCCTCAAAAAAAGAAAATCCTGCAAATACATTTGTCAGAAGGCAGGGAGGTCACTCAGGTCACTTCCTTGGTTCCCGCTATGTCCTGTGCCCTCATGATCCTTGGGCTGCGTGGGCATGGCCTCAGGCCTGGCCTGGCTCAGCTCAGGAGCCTTTGACCCAGCTCAGTGCTCCTGTATGGGGACCAGACACCGACAGGCCGCAGAGTGGGCTGAACTTCCCGGCTGTGAGCCGATGGCCCCACAGGAGACATCCTGGGAACGCAGGATGTGCGCAGTCCCAAGTCAAGGCTGTGCCGTGACTTGTTTTTCTCCGGAGCTGTGTGAACCAAACACTGGGCTGATCGCTCAAAATGAGCAACACAGGAAACAGTCCAGACTAAAGCCAAACTGCTGCAGTTTCTAAATCTGCCGACCCAGAACCTATTTCCCCAACCCAAGAGACCCAGCACTTGGTTTAAGCCCTTGGTGCGGCCCAAGCCCGCAGTTACCAGCAGCACCAGCGGTGGGCAGCCAATGAGTGCGATGGCTGTGGAGAGTTTCCGCTTGTTGCCCCCACTGTACGTGCCAGCCAGGCAGTCGGCGTAGACAGTCAGGCCCAGGCTCTTAATACTCCAGTTTGCAACCTAGGGAAGAGAAAGAAATGCCATTTGGAGAAGACAAGCAAACACCCCAAACCTCCCCCAGTTCAAAGCCTTGGGCTCCCAGATCTCACGCCTCCAGAATGAAATCCCCAGCTAGGCTGAAACAGGCTCCTGCTGGCTCCTGTCCTCTGGCATGTGCTTCAGGCGCCAGACAGGGGCTCTTTCTCTCTGTGTCTTGGATCCCAGGGTGGCCCAGCCTGCTCAGCATCTGTTGGGTGTAGCCGCCTGGGAAATGGACTTCAGCCTTACAAAGAGCAAGACAGTGGGTCTCGCCCAGCGTCCTGGACCATGGCTAGCAGTGGAGGAGGAAGGCTCTGTTTGAGAAGATGGTGAGTCCCAGACCTGTTGATCCCACCCGTCAAGAGGGTTACACCCAAAGCCTTGTGCATCCGACACATACCTATGGAGCACTGACCATACGCCAGGCACTGAACCAGGCACTGGAGAACAATGTGAACACAGCCATTGCTGCTATCCTCAGACTGCGGGGAGGTGGCAGTCAAAATAAACAGAATACTGGCAGATCGTGACAGTGCTGTGAGGGAACGATGACAGAGACACCAGGTGTGTGTGCACATGCGCAGGAGGGGATCTAGGGAAGCCACTGGAGACAAGCTCACCATGCTTCTGCCTTCTATACTAGTCCCCCGTGCCTGGAATGTTCCTCCCTAGGTGTGCACGTGGCTCCTTCTCTCACCTCTAGTTCTTCATTCAGGTTCTCTCCTCTGCAGGCTCTCCCTGGGCCACCCTACCTCAAAATGCAAACCCTGCCCCAGCAGTTCCTCCCTGCGTTACTTTTCCCTGAGGACTTTTCACTCTCTAATGTACTGGATATTTTACCTATTTATCTACAGATCGTCTATCCCTCCCACTAGAATGTAATCTCCATTTTTAACTTTTTATTTGGAAATAGTTTCAAACTCACACAAACATATAG
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CCTCAGTCTCCTGAGAGGCTGGAACTACAGGCACCTGCCACCACACTCGGCTAATTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAAGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCTATTTTATTTTTTGAGACAGAGTCTTGCTGTTTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGATTCACTGCAACCTCTGCCTTCTGAGTTCAAGCAATTCTTGTGCCTCAGTTTCCCGAGTAGGTGGGATTACAGGTGCATACCACCATGCCCATCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCTTCCCAAAGTGATAGGATTACAGGTGTAAGCCACTGCACCTGGCCGTCAAAGGTAGTTTTAGCCCAGTGTGGGGATCCCAAGACTGCCCATAAAGACACGTGGACCAGTGCATACTGAGTGGTGGTAAGGGCTGATGGGCCAGGTGGGAGCAAAGGCTCGGGAAGGCAGCACTTCCCTGAGGAAGCTTCCTGAAACAATGGAGCTGCTAGGGCTTGGGCCATTGGTGCTTTCTTTCTCCTTCAGCAGGATGGCTGGTTACCCTCTCTTGGATGAGTGATGGTCCACCAGAGAGTGTGTGCACGGCTAGCGGGTGTCAGTACCCTATGCCCTGGTATCCTGTGTCAGTCATAACTGACTCCAAAGCTTCCTCCACAGTCTAGGGCTGTTCTCCTCTGCAGTAAGATGCAGAGGAGAAAGGCTGTTTACCTTTCAGCTCCAGAAAACTCACCATCCCTCCACACAGGGAACACTCCCCTCTCACCCCCTCTATCATGGAGATATTAAGGAGCTGGAGGGAAAGGAATAGGAGACTTCCCTTTCTCCAGCAGTTGGACACAGGAAGTTGCTGACACAGGTCTGGTGACCTGACATGCTGCTATTTCTATAGATATCTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAAGTGTTTGTTAAATAAATGAGTAATTGTAACTCTGCTCTTTTCTAGGTTATAAAGCATATCAGAACGTGAATGAGCACGGCAATATGCTGATAATCTTAAACTGTTAGCTTTGGCATGCAAACTCTTAATAATAAGGAATTATCTACAATAGTTTACAATGTGTGGGTACAGGATAAGGATAATCCTATTCAAGATTACTGCCATTGTTGGTTTGTCATATAACATATGGTCTTTTTTCAAACTCAAAAGCATACAATATTCTAAAAACAAAGATGGGTCCTCAAGTCAGTTGGTCTCCTAACCATTCCTACATTGGAGTGGACTCTTAGTAAATAGGCCACAGGTCCCGGATCTGTTGAGATAAGTGGTGAAATATTGAGGCAGTGGTAGCAGCCCTCCCTCATCCCAGCCAGGCTCTGCATGCATCCTGATCAGATGCCCCATCCAGAGACTTGGGCGAGTCTTCGACCACAGGAAATTAGGCCAATATAGAGGAGTTTCTTATCAGCATGATGGCCTTCTCCATCTGCTGCTGGAGAATGAGGCCCAGCCACCACCTGCCTCTGCCCCAGGGGATGACGGAGCAGCAGGACTCTTCCAAGTGTCAATGGAGAACACAGGATCCAGGTGGATCCACAGAAGGCAACAAGGGGCACGCCCCACCATCTGCTTACTTGGACTTGAGATGCTGAATGGTGCCCATACATCGAAAGGCGCCCTTTACCATGATGGCCAGCCAGGTACACAGTGCCTCACATTCTTCCATGCTGTGGGGCAGGAGAGAGGAGGTGAGCAGGAGAGGATTCCCACCCACCTTCCCCAGCCCTGGGAATCTCTTGCCTGTGGGATGTGAGGACCACAGCCCTCCCTTCTCTGATGATGCTCACGATGACGTTCCACAGCATGCGGCGTGCCTGGGGGTCCATCCCTGTGGTGGGCTCATCCTGGGGGGTGGAGAGAAGGTTGGGGGCACAGGCTGGGAGCTGGCCCTTCTGATTACTGCTTCCCCCTGGGCTGGCTCCCCTGTGGAGGATGAGCTGACAGAAGGCGCACACAGTCACTCCCCTCACTTGAGCAAGACAGGGGTACCCTGGTGTAGGGTAGGGAAGGCAGGAGGTGGATCCAAGAGTAAAGAAGCGTGGCGTCCATCCTGGGCCCATTTCAGCCCACGAGGGGATTAAAGTGGATTAAGGCAATGACAGAATTCTCCTCAAAAAAAGAAAATCCTGCAAATACATTTGTCAGAAGGCAGGGAGGTCACTCAGGTCACTTCCTTGGTTCCCGCTATGTCCTGTGCCCTCATGATCCTTGGGCTGCGTGGGCATGGCCTCAGGCCTGGCCTGGCTCAGCTCAGGAGCCTTTGACCCAGCTCAGTGCTCCTGTATGGGGACCAGACACCGACAGGCCGCAGAGTGGGCTGAACTTCCCGGCTGTGAGCCGATGGCCCCACAGGAGACATCCTGGGAACGCAGGATGTGCGCAGTCCCAAGTCAAGGCTGTGCCGTGACTTGTTTTTCTCCGGAGCTGTGTGAACCAAACACTGGGCTGATCGCTCAAAATGAGCAACACAGGAAACAGTCCAGACTAAAGCCAAACTGCTGCAGTTTCTAAATCTGCCGACCCAGAACCTATTTCCCCAACCCAAGAGACCCAGCACTTGGTTTAAGCCCTTGGTGCGGCCCAAGCCCGCAGTTACCAGCAGCACCAGCGGTGGGCAGCCAATGAGTGCGATGGCTGTGGAGAGTTTCCGCTTGTTGCCCCCACTGTACGTGCCAGCCAGGCAGTCGGCGTAGACAGTCAGGCCCAGGCTCTTAATACTCCAGTTTGCAACCTAGGGAAGAGAAAGAAATGCCATTTGGAGAAGACAAGCAAACACCCCAAACCTCCCCCAGTTCAAAGCCTTGGGCTCCCAGATCTCACGCCTCCAGAATGAAATCCCCAGCTAGGCTGAAACAGGCTCCTGCTGGCTCCTGTCCTCTGGCATGTGCTTCAGGCGCCAGACAGGGGCTCTTTCTCTCTGTGTCTTGGATCCCAGGGTGGCCCAGCCTGCTCAGCATCTGTTGGGTGTAGCCGCCTGGGAAATGGACTTCAGCCTTACAAAGAGCAAGACAGTGGGTCTCGCCCAGCGTCCTGGACCATGGCTAGCAGTGGAGGAGGAAGGCTCTGTTTGAGAAGATGGTGAGTCCCAGACCTGTTGATCCCACCCGTCAAGAGGGTTACACCCAAAGCCTTGTGCATCCGACACATACCTATGGAGCACTGACCATACGCCAGGCACTGAACCAGGCACTGGAGAACAATGTGAACACAGCCATTGCTGCTATCCTCAGACTGCGGGGAGGTGGCAGTCAAAATAAACAGAATACTGGCAGATCGTGACAGTGCTGTGAGGGAACGATGACAGAGACACCAGGTGTGTGTGCACATGCGCAGGAGGGGATCTAGGGAAGCCACTGGAGACAAGCTCACCATGCTTCTGCCTTCTATACTAGTCCCCCGTGCCTGGAATGTTCCTCCCTAGGTGTGCACGTGGCTCCTTCTCTCACCTCTAGTTCTTCATTCAGGTTCTCTCCTCTGCAGGCTCTCCCTGGGCCACCCTACCTCAAAATGCAAACCCTGCCCCAGCAGTTCCTCCCTGCGTTACTTTTCCCTGAGGACTTTTCACTCTCTAATGTACTGGATATTTTACCTATTTATCTACAGATCGTCTATCCCTCCCACTAGAATGTAATCTCCATTTTTAACTTTTTATTTGGAAATAGTTTCAAACTCACACAAACATATAG
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Task1_train_1104
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This alteration in ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Retinal dystrophy
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CCTCAGTCTCCTGAGAGGCTGGAACTACAGGCACCTGCCACCACACTCGGCTAATTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAAGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCTATTTTATTTTTTGAGACAGAGTCTTGCTGTTTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGATTCACTGCAACCTCTGCCTTCTGAGTTCAAGCAATTCTTGTGCCTCAGTTTCCCGAGTAGGTGGGATTACAGGTGCATACCACCATGCCCATCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCTTCCCAAAGTGATAGGATTACAGGTGTAAGCCACTGCACCTGGCCGTCAAAGGTAGTTTTAGCCCAGTGTGGGGATCCCAAGACTGCCCATAAAGACACGTGGACCAGTGCATACTGAGTGGTGGTAAGGGCTGATGGGCCAGGTGGGAGCAAAGGCTCGGGAAGGCAGCACTTCCCTGAGGAAGCTTCCTGAAACAATGGAGCTGCTAGGGCTTGGGCCATTGGTGCTTTCTTTCTCCTTCAGCAGGATGGCTGGTTACCCTCTCTTGGATGAGTGATGGTCCACCAGAGAGTGTGTGCACGGCTAGCGGGTGTCAGTACCCTATGCCCTGGTATCCTGTGTCAGTCATAACTGACTCCAAAGCTTCCTCCACAGTCTAGGGCTGTTCTCCTCTGCAGTAAGATGCAGAGGAGAAAGGCTGTTTACCTTTCAGCTCCAGAAAACTCACCATCCCTCCACACAGGGAACACTCCCCTCTCACCCCCTCTATCATGGAGATATTAAGGAGCTGGAGGGAAAGGAATAGGAGACTTCCCTTTCTCCAGCAGTTGGACACAGGAAGTTGCTGACACAGGTCTGGTGACCTGACATGCTGCTATTTCTATAGATATCTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAAGTGTTTGTTAAATAAATGAGTAATTGTAACTCTGCTCTTTTCTAGGTTATAAAGCATATCAGAACGTGAATGAGCACGGCAATATGCTGATAATCTTAAACTGTTAGCTTTGGCATGCAAACTCTTAATAATAAGGAATTATCTACAATAGTTTACAATGTGTGGGTACAGGATAAGGATAATCCTATTCAAGATTACTGCCATTGTTGGTTTGTCATATAACATATGGTCTTTTTTCAAACTCAAAAGCATACAATATTCTAAAAACAAAGATGGGTCCTCAAGTCAGTTGGTCTCCTAACCATTCCTACATTGGAGTGGACTCTTAGTAAATAGGCCACAGGTCCCGGATCTGTTGAGATAAGTGGTGAAATATTGAGGCAGTGGTAGCAGCCCTCCCTCATCCCAGCCAGGCTCTGCATGCATCCTGATCAGATGCCCCATCCAGAGACTTGGGCGAGTCTTCGACCACAGGAAATTAGGCCAATATAGAGGAGTTTCTTATCAGCATGATGGCCTTCTCCATCTGCTGCTGGAGAATGAGGCCCAGCCACCACCTGCCTCTGCCCCAGGGGATGACGGAGCAGCAGGACTCTTCCAAGTGTCAATGGAGAACACAGGATCCAGGTGGATCCACAGAAGGCAACAAGGGGCACGCCCCACCATCTGCTTACTTGGACTTGAGATGCTGAATGGTGCCCATACATCGAAAGGCGCCCTTTACCATGATGGCCAGCCGGGTACACAGTGCCTCACATTCTTCCATGCTGTGGGGCAGGAGAGAGGAGGTGAGCAGGAGAGGATTCCCACCCACCTTCCCCAGCCCTGGGAATCTCTTGCCTGTGGGATGTGAGGACCACAGCCCTCCCTTCTCTGATGATGCTCACGATGACGTTCCACAGCATGCGGCGTGCCTGGGGGTCCATCCCTGTGGTGGGCTCATCCTGGGGGGTGGAGAGAAGGTTGGGGGCACAGGCTGGGAGCTGGCCCTTCTGATTACTGCTTCCCCCTGGGCTGGCTCCCCTGTGGAGGATGAGCTGACAGAAGGCGCACACAGTCACTCCCCTCACTTGAGCAAGACAGGGGTACCCTGGTGTAGGGTAGGGAAGGCAGGAGGTGGATCCAAGAGTAAAGAAGCGTGGCGTCCATCCTGGGCCCATTTCAGCCCACGAGGGGATTAAAGTGGATTAAGGCAATGACAGAATTCTCCTCAAAAAAAGAAAATCCTGCAAATACATTTGTCAGAAGGCAGGGAGGTCACTCAGGTCACTTCCTTGGTTCCCGCTATGTCCTGTGCCCTCATGATCCTTGGGCTGCGTGGGCATGGCCTCAGGCCTGGCCTGGCTCAGCTCAGGAGCCTTTGACCCAGCTCAGTGCTCCTGTATGGGGACCAGACACCGACAGGCCGCAGAGTGGGCTGAACTTCCCGGCTGTGAGCCGATGGCCCCACAGGAGACATCCTGGGAACGCAGGATGTGCGCAGTCCCAAGTCAAGGCTGTGCCGTGACTTGTTTTTCTCCGGAGCTGTGTGAACCAAACACTGGGCTGATCGCTCAAAATGAGCAACACAGGAAACAGTCCAGACTAAAGCCAAACTGCTGCAGTTTCTAAATCTGCCGACCCAGAACCTATTTCCCCAACCCAAGAGACCCAGCACTTGGTTTAAGCCCTTGGTGCGGCCCAAGCCCGCAGTTACCAGCAGCACCAGCGGTGGGCAGCCAATGAGTGCGATGGCTGTGGAGAGTTTCCGCTTGTTGCCCCCACTGTACGTGCCAGCCAGGCAGTCGGCGTAGACAGTCAGGCCCAGGCTCTTAATACTCCAGTTTGCAACCTAGGGAAGAGAAAGAAATGCCATTTGGAGAAGACAAGCAAACACCCCAAACCTCCCCCAGTTCAAAGCCTTGGGCTCCCAGATCTCACGCCTCCAGAATGAAATCCCCAGCTAGGCTGAAACAGGCTCCTGCTGGCTCCTGTCCTCTGGCATGTGCTTCAGGCGCCAGACAGGGGCTCTTTCTCTCTGTGTCTTGGATCCCAGGGTGGCCCAGCCTGCTCAGCATCTGTTGGGTGTAGCCGCCTGGGAAATGGACTTCAGCCTTACAAAGAGCAAGACAGTGGGTCTCGCCCAGCGTCCTGGACCATGGCTAGCAGTGGAGGAGGAAGGCTCTGTTTGAGAAGATGGTGAGTCCCAGACCTGTTGATCCCACCCGTCAAGAGGGTTACACCCAAAGCCTTGTGCATCCGACACATACCTATGGAGCACTGACCATACGCCAGGCACTGAACCAGGCACTGGAGAACAATGTGAACACAGCCATTGCTGCTATCCTCAGACTGCGGGGAGGTGGCAGTCAAAATAAACAGAATACTGGCAGATCGTGACAGTGCTGTGAGGGAACGATGACAGAGACACCAGGTGTGTGTGCACATGCGCAGGAGGGGATCTAGGGAAGCCACTGGAGACAAGCTCACCATGCTTCTGCCTTCTATACTAGTCCCCCGTGCCTGGAATGTTCCTCCCTAGGTGTGCACGTGGCTCCTTCTCTCACCTCTAGTTCTTCATTCAGGTTCTCTCCTCTGCAGGCTCTCCCTGGGCCACCCTACCTCAAAATGCAAACCCTGCCCCAGCAGTTCCTCCCTGCGTTACTTTTCCCTGAGGACTTTTCACTCTCTAATGTACTGGATATTTTACCTATTTATCTACAGATCGTCTATCCCTCCCACTAGAATGTAATCTCCATTTTTAACTTTTTATTTGGAAATAGTTTCAAACTCACACAAACATATAG
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CCTCAGTCTCCTGAGAGGCTGGAACTACAGGCACCTGCCACCACACTCGGCTAATTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAAGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCTATTTTATTTTTTGAGACAGAGTCTTGCTGTTTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGATTCACTGCAACCTCTGCCTTCTGAGTTCAAGCAATTCTTGTGCCTCAGTTTCCCGAGTAGGTGGGATTACAGGTGCATACCACCATGCCCATCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCTTCCCAAAGTGATAGGATTACAGGTGTAAGCCACTGCACCTGGCCGTCAAAGGTAGTTTTAGCCCAGTGTGGGGATCCCAAGACTGCCCATAAAGACACGTGGACCAGTGCATACTGAGTGGTGGTAAGGGCTGATGGGCCAGGTGGGAGCAAAGGCTCGGGAAGGCAGCACTTCCCTGAGGAAGCTTCCTGAAACAATGGAGCTGCTAGGGCTTGGGCCATTGGTGCTTTCTTTCTCCTTCAGCAGGATGGCTGGTTACCCTCTCTTGGATGAGTGATGGTCCACCAGAGAGTGTGTGCACGGCTAGCGGGTGTCAGTACCCTATGCCCTGGTATCCTGTGTCAGTCATAACTGACTCCAAAGCTTCCTCCACAGTCTAGGGCTGTTCTCCTCTGCAGTAAGATGCAGAGGAGAAAGGCTGTTTACCTTTCAGCTCCAGAAAACTCACCATCCCTCCACACAGGGAACACTCCCCTCTCACCCCCTCTATCATGGAGATATTAAGGAGCTGGAGGGAAAGGAATAGGAGACTTCCCTTTCTCCAGCAGTTGGACACAGGAAGTTGCTGACACAGGTCTGGTGACCTGACATGCTGCTATTTCTATAGATATCTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAAGTGTTTGTTAAATAAATGAGTAATTGTAACTCTGCTCTTTTCTAGGTTATAAAGCATATCAGAACGTGAATGAGCACGGCAATATGCTGATAATCTTAAACTGTTAGCTTTGGCATGCAAACTCTTAATAATAAGGAATTATCTACAATAGTTTACAATGTGTGGGTACAGGATAAGGATAATCCTATTCAAGATTACTGCCATTGTTGGTTTGTCATATAACATATGGTCTTTTTTCAAACTCAAAAGCATACAATATTCTAAAAACAAAGATGGGTCCTCAAGTCAGTTGGTCTCCTAACCATTCCTACATTGGAGTGGACTCTTAGTAAATAGGCCACAGGTCCCGGATCTGTTGAGATAAGTGGTGAAATATTGAGGCAGTGGTAGCAGCCCTCCCTCATCCCAGCCAGGCTCTGCATGCATCCTGATCAGATGCCCCATCCAGAGACTTGGGCGAGTCTTCGACCACAGGAAATTAGGCCAATATAGAGGAGTTTCTTATCAGCATGATGGCCTTCTCCATCTGCTGCTGGAGAATGAGGCCCAGCCACCACCTGCCTCTGCCCCAGGGGATGACGGAGCAGCAGGACTCTTCCAAGTGTCAATGGAGAACACAGGATCCAGGTGGATCCACAGAAGGCAACAAGGGGCACGCCCCACCATCTGCTTACTTGGACTTGAGATGCTGAATGGTGCCCATACATCGAAAGGCGCCCTTTACCATGATGGCCAGCCAGGTACACAGTGCCTCACATTCTTCCATGCTGTGGGGCAGGAGAGAGGAGGTGAGCAGGAGAGGATTCCCACCCACCTTCCCCAGCCCTGGGAATCTCTTGCCTGTGGGATGTGAGGACCACAGCCCTCCCTTCTCTGATGATGCTCACGATGACGTTCCACAGCATGCGGCGTGCCTGGGGGTCCATCCCTGTGGTGGGCTCATCCTGGGGGGTGGAGAGAAGGTTGGGGGCACAGGCTGGGAGCTGGCCCTTCTGATTACTGCTTCCCCCTGGGCTGGCTCCCCTGTGGAGGATGAGCTGACAGAAGGCGCACACAGTCACTCCCCTCACTTGAGCAAGACAGGGGTACCCTGGTGTAGGGTAGGGAAGGCAGGAGGTGGATCCAAGAGTAAAGAAGCGTGGCGTCCATCCTGGGCCCATTTCAGCCCACGAGGGGATTAAAGTGGATTAAGGCAATGACAGAATTCTCCTCAAAAAAAGAAAATCCTGCAAATACATTTGTCAGAAGGCAGGGAGGTCACTCAGGTCACTTCCTTGGTTCCCGCTATGTCCTGTGCCCTCATGATCCTTGGGCTGCGTGGGCATGGCCTCAGGCCTGGCCTGGCTCAGCTCAGGAGCCTTTGACCCAGCTCAGTGCTCCTGTATGGGGACCAGACACCGACAGGCCGCAGAGTGGGCTGAACTTCCCGGCTGTGAGCCGATGGCCCCACAGGAGACATCCTGGGAACGCAGGATGTGCGCAGTCCCAAGTCAAGGCTGTGCCGTGACTTGTTTTTCTCCGGAGCTGTGTGAACCAAACACTGGGCTGATCGCTCAAAATGAGCAACACAGGAAACAGTCCAGACTAAAGCCAAACTGCTGCAGTTTCTAAATCTGCCGACCCAGAACCTATTTCCCCAACCCAAGAGACCCAGCACTTGGTTTAAGCCCTTGGTGCGGCCCAAGCCCGCAGTTACCAGCAGCACCAGCGGTGGGCAGCCAATGAGTGCGATGGCTGTGGAGAGTTTCCGCTTGTTGCCCCCACTGTACGTGCCAGCCAGGCAGTCGGCGTAGACAGTCAGGCCCAGGCTCTTAATACTCCAGTTTGCAACCTAGGGAAGAGAAAGAAATGCCATTTGGAGAAGACAAGCAAACACCCCAAACCTCCCCCAGTTCAAAGCCTTGGGCTCCCAGATCTCACGCCTCCAGAATGAAATCCCCAGCTAGGCTGAAACAGGCTCCTGCTGGCTCCTGTCCTCTGGCATGTGCTTCAGGCGCCAGACAGGGGCTCTTTCTCTCTGTGTCTTGGATCCCAGGGTGGCCCAGCCTGCTCAGCATCTGTTGGGTGTAGCCGCCTGGGAAATGGACTTCAGCCTTACAAAGAGCAAGACAGTGGGTCTCGCCCAGCGTCCTGGACCATGGCTAGCAGTGGAGGAGGAAGGCTCTGTTTGAGAAGATGGTGAGTCCCAGACCTGTTGATCCCACCCGTCAAGAGGGTTACACCCAAAGCCTTGTGCATCCGACACATACCTATGGAGCACTGACCATACGCCAGGCACTGAACCAGGCACTGGAGAACAATGTGAACACAGCCATTGCTGCTATCCTCAGACTGCGGGGAGGTGGCAGTCAAAATAAACAGAATACTGGCAGATCGTGACAGTGCTGTGAGGGAACGATGACAGAGACACCAGGTGTGTGTGCACATGCGCAGGAGGGGATCTAGGGAAGCCACTGGAGACAAGCTCACCATGCTTCTGCCTTCTATACTAGTCCCCCGTGCCTGGAATGTTCCTCCCTAGGTGTGCACGTGGCTCCTTCTCTCACCTCTAGTTCTTCATTCAGGTTCTCTCCTCTGCAGGCTCTCCCTGGGCCACCCTACCTCAAAATGCAAACCCTGCCCCAGCAGTTCCTCCCTGCGTTACTTTTCCCTGAGGACTTTTCACTCTCTAATGTACTGGATATTTTACCTATTTATCTACAGATCGTCTATCCCTCCCACTAGAATGTAATCTCCATTTTTAACTTTTTATTTGGAAATAGTTTCAAACTCACACAAACATATAG
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Task1_train_1105
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A sequence alteration has been identified in ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Is it disease-inducing or harmless?
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Pathogenic; not provided
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GTCTCCTGAGAGGCTGGAACTACAGGCACCTGCCACCACACTCGGCTAATTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAAGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCTATTTTATTTTTTGAGACAGAGTCTTGCTGTTTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGATTCACTGCAACCTCTGCCTTCTGAGTTCAAGCAATTCTTGTGCCTCAGTTTCCCGAGTAGGTGGGATTACAGGTGCATACCACCATGCCCATCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCTTCCCAAAGTGATAGGATTACAGGTGTAAGCCACTGCACCTGGCCGTCAAAGGTAGTTTTAGCCCAGTGTGGGGATCCCAAGACTGCCCATAAAGACACGTGGACCAGTGCATACTGAGTGGTGGTAAGGGCTGATGGGCCAGGTGGGAGCAAAGGCTCGGGAAGGCAGCACTTCCCTGAGGAAGCTTCCTGAAACAATGGAGCTGCTAGGGCTTGGGCCATTGGTGCTTTCTTTCTCCTTCAGCAGGATGGCTGGTTACCCTCTCTTGGATGAGTGATGGTCCACCAGAGAGTGTGTGCACGGCTAGCGGGTGTCAGTACCCTATGCCCTGGTATCCTGTGTCAGTCATAACTGACTCCAAAGCTTCCTCCACAGTCTAGGGCTGTTCTCCTCTGCAGTAAGATGCAGAGGAGAAAGGCTGTTTACCTTTCAGCTCCAGAAAACTCACCATCCCTCCACACAGGGAACACTCCCCTCTCACCCCCTCTATCATGGAGATATTAAGGAGCTGGAGGGAAAGGAATAGGAGACTTCCCTTTCTCCAGCAGTTGGACACAGGAAGTTGCTGACACAGGTCTGGTGACCTGACATGCTGCTATTTCTATAGATATCTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAAGTGTTTGTTAAATAAATGAGTAATTGTAACTCTGCTCTTTTCTAGGTTATAAAGCATATCAGAACGTGAATGAGCACGGCAATATGCTGATAATCTTAAACTGTTAGCTTTGGCATGCAAACTCTTAATAATAAGGAATTATCTACAATAGTTTACAATGTGTGGGTACAGGATAAGGATAATCCTATTCAAGATTACTGCCATTGTTGGTTTGTCATATAACATATGGTCTTTTTTCAAACTCAAAAGCATACAATATTCTAAAAACAAAGATGGGTCCTCAAGTCAGTTGGTCTCCTAACCATTCCTACATTGGAGTGGACTCTTAGTAAATAGGCCACAGGTCCCGGATCTGTTGAGATAAGTGGTGAAATATTGAGGCAGTGGTAGCAGCCCTCCCTCATCCCAGCCAGGCTCTGCATGCATCCTGATCAGATGCCCCATCCAGAGACTTGGGCGAGTCTTCGACCACAGGAAATTAGGCCAATATAGAGGAGTTTCTTATCAGCATGATGGCCTTCTCCATCTGCTGCTGGAGAATGAGGCCCAGCCACCACCTGCCTCTGCCCCAGGGGATGACGGAGCAGCAGGACTCTTCCAAGTGTCAATGGAGAACACAGGATCCAGGTGGATCCACAGAAGGCAACAAGGGGCACGCCCCACCATCTGCTTACTTGGACTTGAGATGCTGAATGGTGCCCATACATCGAAAGGCGCCCTTTACCATGATGGCCAGCCGGGTACACAGTGCCTCACATTCTTCCATGCTGTGGGGCAGGAGAGAGGAGGTGAGCAGGAGAGGATTCCCACCCACCTTCCCCAGCCCTGGGAATCTCTTGCCTGTGGGATGTGAGGACCACAGCCCTCCCTTCTCTGATGATGCTCACGATGACGTTCCACAGCATGCGGCGTGCCTGGGGGTCCATCCCTGTGGTGGGCTCATCCTGGGGGGTGGAGAGAAGGTTGGGGGCACAGGCTGGGAGCTGGCCCTTCTGATTACTGCTTCCCCCTGGGCTGGCTCCCCTGTGGAGGATGAGCTGACAGAAGGCGCACACAGTCACTCCCCTCACTTGAGCAAGACAGGGGTACCCTGGTGTAGGGTAGGGAAGGCAGGAGGTGGATCCAAGAGTAAAGAAGCGTGGCGTCCATCCTGGGCCCATTTCAGCCCACGAGGGGATTAAAGTGGATTAAGGCAATGACAGAATTCTCCTCAAAAAAAGAAAATCCTGCAAATACATTTGTCAGAAGGCAGGGAGGTCACTCAGGTCACTTCCTTGGTTCCCGCTATGTCCTGTGCCCTCATGATCCTTGGGCTGCGTGGGCATGGCCTCAGGCCTGGCCTGGCTCAGCTCAGGAGCCTTTGACCCAGCTCAGTGCTCCTGTATGGGGACCAGACACCGACAGGCCGCAGAGTGGGCTGAACTTCCCGGCTGTGAGCCGATGGCCCCACAGGAGACATCCTGGGAACGCAGGATGTGCGCAGTCCCAAGTCAAGGCTGTGCCGTGACTTGTTTTTCTCCGGAGCTGTGTGAACCAAACACTGGGCTGATCGCTCAAAATGAGCAACACAGGAAACAGTCCAGACTAAAGCCAAACTGCTGCAGTTTCTAAATCTGCCGACCCAGAACCTATTTCCCCAACCCAAGAGACCCAGCACTTGGTTTAAGCCCTTGGTGCGGCCCAAGCCCGCAGTTACCAGCAGCACCAGCGGTGGGCAGCCAATGAGTGCGATGGCTGTGGAGAGTTTCCGCTTGTTGCCCCCACTGTACGTGCCAGCCAGGCAGTCGGCGTAGACAGTCAGGCCCAGGCTCTTAATACTCCAGTTTGCAACCTAGGGAAGAGAAAGAAATGCCATTTGGAGAAGACAAGCAAACACCCCAAACCTCCCCCAGTTCAAAGCCTTGGGCTCCCAGATCTCACGCCTCCAGAATGAAATCCCCAGCTAGGCTGAAACAGGCTCCTGCTGGCTCCTGTCCTCTGGCATGTGCTTCAGGCGCCAGACAGGGGCTCTTTCTCTCTGTGTCTTGGATCCCAGGGTGGCCCAGCCTGCTCAGCATCTGTTGGGTGTAGCCGCCTGGGAAATGGACTTCAGCCTTACAAAGAGCAAGACAGTGGGTCTCGCCCAGCGTCCTGGACCATGGCTAGCAGTGGAGGAGGAAGGCTCTGTTTGAGAAGATGGTGAGTCCCAGACCTGTTGATCCCACCCGTCAAGAGGGTTACACCCAAAGCCTTGTGCATCCGACACATACCTATGGAGCACTGACCATACGCCAGGCACTGAACCAGGCACTGGAGAACAATGTGAACACAGCCATTGCTGCTATCCTCAGACTGCGGGGAGGTGGCAGTCAAAATAAACAGAATACTGGCAGATCGTGACAGTGCTGTGAGGGAACGATGACAGAGACACCAGGTGTGTGTGCACATGCGCAGGAGGGGATCTAGGGAAGCCACTGGAGACAAGCTCACCATGCTTCTGCCTTCTATACTAGTCCCCCGTGCCTGGAATGTTCCTCCCTAGGTGTGCACGTGGCTCCTTCTCTCACCTCTAGTTCTTCATTCAGGTTCTCTCCTCTGCAGGCTCTCCCTGGGCCACCCTACCTCAAAATGCAAACCCTGCCCCAGCAGTTCCTCCCTGCGTTACTTTTCCCTGAGGACTTTTCACTCTCTAATGTACTGGATATTTTACCTATTTATCTACAGATCGTCTATCCCTCCCACTAGAATGTAATCTCCATTTTTAACTTTTTATTTGGAAATAGTTTCAAACTCACACAAACATATAGGAATA
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GTCTCCTGAGAGGCTGGAACTACAGGCACCTGCCACCACACTCGGCTAATTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAAGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCTATTTTATTTTTTGAGACAGAGTCTTGCTGTTTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGATTCACTGCAACCTCTGCCTTCTGAGTTCAAGCAATTCTTGTGCCTCAGTTTCCCGAGTAGGTGGGATTACAGGTGCATACCACCATGCCCATCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCTTCCCAAAGTGATAGGATTACAGGTGTAAGCCACTGCACCTGGCCGTCAAAGGTAGTTTTAGCCCAGTGTGGGGATCCCAAGACTGCCCATAAAGACACGTGGACCAGTGCATACTGAGTGGTGGTAAGGGCTGATGGGCCAGGTGGGAGCAAAGGCTCGGGAAGGCAGCACTTCCCTGAGGAAGCTTCCTGAAACAATGGAGCTGCTAGGGCTTGGGCCATTGGTGCTTTCTTTCTCCTTCAGCAGGATGGCTGGTTACCCTCTCTTGGATGAGTGATGGTCCACCAGAGAGTGTGTGCACGGCTAGCGGGTGTCAGTACCCTATGCCCTGGTATCCTGTGTCAGTCATAACTGACTCCAAAGCTTCCTCCACAGTCTAGGGCTGTTCTCCTCTGCAGTAAGATGCAGAGGAGAAAGGCTGTTTACCTTTCAGCTCCAGAAAACTCACCATCCCTCCACACAGGGAACACTCCCCTCTCACCCCCTCTATCATGGAGATATTAAGGAGCTGGAGGGAAAGGAATAGGAGACTTCCCTTTCTCCAGCAGTTGGACACAGGAAGTTGCTGACACAGGTCTGGTGACCTGACATGCTGCTATTTCTATAGATATCTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAAGTGTTTGTTAAATAAATGAGTAATTGTAACTCTGCTCTTTTCTAGGTTATAAAGCATATCAGAACGTGAATGAGCACGGCAATATGCTGATAATCTTAAACTGTTAGCTTTGGCATGCAAACTCTTAATAATAAGGAATTATCTACAATAGTTTACAATGTGTGGGTACAGGATAAGGATAATCCTATTCAAGATTACTGCCATTGTTGGTTTGTCATATAACATATGGTCTTTTTTCAAACTCAAAAGCATACAATATTCTAAAAACAAAGATGGGTCCTCAAGTCAGTTGGTCTCCTAACCATTCCTACATTGGAGTGGACTCTTAGTAAATAGGCCACAGGTCCCGGATCTGTTGAGATAAGTGGTGAAATATTGAGGCAGTGGTAGCAGCCCTCCCTCATCCCAGCCAGGCTCTGCATGCATCCTGATCAGATGCCCCATCCAGAGACTTGGGCGAGTCTTCGACCACAGGAAATTAGGCCAATATAGAGGAGTTTCTTATCAGCATGATGGCCTTCTCCATCTGCTGCTGGAGAATGAGGCCCAGCCACCACCTGCCTCTGCCCCAGGGGATGACGGAGCAGCAGGACTCTTCCAAGTGTCAATGGAGAACACAGGATCCAGGTGGATCCACAGAAGGCAACAAGGGGCACGCCCCACCATCTGCTTACTTGGACTTGAGATGCTGAATGGTGCCCATACATCGAAAGGCGCCCTTTACCATGATGGCCAGCCGGGTATACAGTGCCTCACATTCTTCCATGCTGTGGGGCAGGAGAGAGGAGGTGAGCAGGAGAGGATTCCCACCCACCTTCCCCAGCCCTGGGAATCTCTTGCCTGTGGGATGTGAGGACCACAGCCCTCCCTTCTCTGATGATGCTCACGATGACGTTCCACAGCATGCGGCGTGCCTGGGGGTCCATCCCTGTGGTGGGCTCATCCTGGGGGGTGGAGAGAAGGTTGGGGGCACAGGCTGGGAGCTGGCCCTTCTGATTACTGCTTCCCCCTGGGCTGGCTCCCCTGTGGAGGATGAGCTGACAGAAGGCGCACACAGTCACTCCCCTCACTTGAGCAAGACAGGGGTACCCTGGTGTAGGGTAGGGAAGGCAGGAGGTGGATCCAAGAGTAAAGAAGCGTGGCGTCCATCCTGGGCCCATTTCAGCCCACGAGGGGATTAAAGTGGATTAAGGCAATGACAGAATTCTCCTCAAAAAAAGAAAATCCTGCAAATACATTTGTCAGAAGGCAGGGAGGTCACTCAGGTCACTTCCTTGGTTCCCGCTATGTCCTGTGCCCTCATGATCCTTGGGCTGCGTGGGCATGGCCTCAGGCCTGGCCTGGCTCAGCTCAGGAGCCTTTGACCCAGCTCAGTGCTCCTGTATGGGGACCAGACACCGACAGGCCGCAGAGTGGGCTGAACTTCCCGGCTGTGAGCCGATGGCCCCACAGGAGACATCCTGGGAACGCAGGATGTGCGCAGTCCCAAGTCAAGGCTGTGCCGTGACTTGTTTTTCTCCGGAGCTGTGTGAACCAAACACTGGGCTGATCGCTCAAAATGAGCAACACAGGAAACAGTCCAGACTAAAGCCAAACTGCTGCAGTTTCTAAATCTGCCGACCCAGAACCTATTTCCCCAACCCAAGAGACCCAGCACTTGGTTTAAGCCCTTGGTGCGGCCCAAGCCCGCAGTTACCAGCAGCACCAGCGGTGGGCAGCCAATGAGTGCGATGGCTGTGGAGAGTTTCCGCTTGTTGCCCCCACTGTACGTGCCAGCCAGGCAGTCGGCGTAGACAGTCAGGCCCAGGCTCTTAATACTCCAGTTTGCAACCTAGGGAAGAGAAAGAAATGCCATTTGGAGAAGACAAGCAAACACCCCAAACCTCCCCCAGTTCAAAGCCTTGGGCTCCCAGATCTCACGCCTCCAGAATGAAATCCCCAGCTAGGCTGAAACAGGCTCCTGCTGGCTCCTGTCCTCTGGCATGTGCTTCAGGCGCCAGACAGGGGCTCTTTCTCTCTGTGTCTTGGATCCCAGGGTGGCCCAGCCTGCTCAGCATCTGTTGGGTGTAGCCGCCTGGGAAATGGACTTCAGCCTTACAAAGAGCAAGACAGTGGGTCTCGCCCAGCGTCCTGGACCATGGCTAGCAGTGGAGGAGGAAGGCTCTGTTTGAGAAGATGGTGAGTCCCAGACCTGTTGATCCCACCCGTCAAGAGGGTTACACCCAAAGCCTTGTGCATCCGACACATACCTATGGAGCACTGACCATACGCCAGGCACTGAACCAGGCACTGGAGAACAATGTGAACACAGCCATTGCTGCTATCCTCAGACTGCGGGGAGGTGGCAGTCAAAATAAACAGAATACTGGCAGATCGTGACAGTGCTGTGAGGGAACGATGACAGAGACACCAGGTGTGTGTGCACATGCGCAGGAGGGGATCTAGGGAAGCCACTGGAGACAAGCTCACCATGCTTCTGCCTTCTATACTAGTCCCCCGTGCCTGGAATGTTCCTCCCTAGGTGTGCACGTGGCTCCTTCTCTCACCTCTAGTTCTTCATTCAGGTTCTCTCCTCTGCAGGCTCTCCCTGGGCCACCCTACCTCAAAATGCAAACCCTGCCCCAGCAGTTCCTCCCTGCGTTACTTTTCCCTGAGGACTTTTCACTCTCTAATGTACTGGATATTTTACCTATTTATCTACAGATCGTCTATCCCTCCCACTAGAATGTAATCTCCATTTTTAACTTTTTATTTGGAAATAGTTTCAAACTCACACAAACATATAGGAATA
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Task1_train_1106
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Here is a variant affecting ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; not provided
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ACAGGCACCTGCCACCACACTCGGCTAATTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAAGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCTATTTTATTTTTTGAGACAGAGTCTTGCTGTTTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGATTCACTGCAACCTCTGCCTTCTGAGTTCAAGCAATTCTTGTGCCTCAGTTTCCCGAGTAGGTGGGATTACAGGTGCATACCACCATGCCCATCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCTTCCCAAAGTGATAGGATTACAGGTGTAAGCCACTGCACCTGGCCGTCAAAGGTAGTTTTAGCCCAGTGTGGGGATCCCAAGACTGCCCATAAAGACACGTGGACCAGTGCATACTGAGTGGTGGTAAGGGCTGATGGGCCAGGTGGGAGCAAAGGCTCGGGAAGGCAGCACTTCCCTGAGGAAGCTTCCTGAAACAATGGAGCTGCTAGGGCTTGGGCCATTGGTGCTTTCTTTCTCCTTCAGCAGGATGGCTGGTTACCCTCTCTTGGATGAGTGATGGTCCACCAGAGAGTGTGTGCACGGCTAGCGGGTGTCAGTACCCTATGCCCTGGTATCCTGTGTCAGTCATAACTGACTCCAAAGCTTCCTCCACAGTCTAGGGCTGTTCTCCTCTGCAGTAAGATGCAGAGGAGAAAGGCTGTTTACCTTTCAGCTCCAGAAAACTCACCATCCCTCCACACAGGGAACACTCCCCTCTCACCCCCTCTATCATGGAGATATTAAGGAGCTGGAGGGAAAGGAATAGGAGACTTCCCTTTCTCCAGCAGTTGGACACAGGAAGTTGCTGACACAGGTCTGGTGACCTGACATGCTGCTATTTCTATAGATATCTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAAGTGTTTGTTAAATAAATGAGTAATTGTAACTCTGCTCTTTTCTAGGTTATAAAGCATATCAGAACGTGAATGAGCACGGCAATATGCTGATAATCTTAAACTGTTAGCTTTGGCATGCAAACTCTTAATAATAAGGAATTATCTACAATAGTTTACAATGTGTGGGTACAGGATAAGGATAATCCTATTCAAGATTACTGCCATTGTTGGTTTGTCATATAACATATGGTCTTTTTTCAAACTCAAAAGCATACAATATTCTAAAAACAAAGATGGGTCCTCAAGTCAGTTGGTCTCCTAACCATTCCTACATTGGAGTGGACTCTTAGTAAATAGGCCACAGGTCCCGGATCTGTTGAGATAAGTGGTGAAATATTGAGGCAGTGGTAGCAGCCCTCCCTCATCCCAGCCAGGCTCTGCATGCATCCTGATCAGATGCCCCATCCAGAGACTTGGGCGAGTCTTCGACCACAGGAAATTAGGCCAATATAGAGGAGTTTCTTATCAGCATGATGGCCTTCTCCATCTGCTGCTGGAGAATGAGGCCCAGCCACCACCTGCCTCTGCCCCAGGGGATGACGGAGCAGCAGGACTCTTCCAAGTGTCAATGGAGAACACAGGATCCAGGTGGATCCACAGAAGGCAACAAGGGGCACGCCCCACCATCTGCTTACTTGGACTTGAGATGCTGAATGGTGCCCATACATCGAAAGGCGCCCTTTACCATGATGGCCAGCCGGGTACACAGTGCCTCACATTCTTCCATGCTGTGGGGCAGGAGAGAGGAGGTGAGCAGGAGAGGATTCCCACCCACCTTCCCCAGCCCTGGGAATCTCTTGCCTGTGGGATGTGAGGACCACAGCCCTCCCTTCTCTGATGATGCTCACGATGACGTTCCACAGCATGCGGCGTGCCTGGGGGTCCATCCCTGTGGTGGGCTCATCCTGGGGGGTGGAGAGAAGGTTGGGGGCACAGGCTGGGAGCTGGCCCTTCTGATTACTGCTTCCCCCTGGGCTGGCTCCCCTGTGGAGGATGAGCTGACAGAAGGCGCACACAGTCACTCCCCTCACTTGAGCAAGACAGGGGTACCCTGGTGTAGGGTAGGGAAGGCAGGAGGTGGATCCAAGAGTAAAGAAGCGTGGCGTCCATCCTGGGCCCATTTCAGCCCACGAGGGGATTAAAGTGGATTAAGGCAATGACAGAATTCTCCTCAAAAAAAGAAAATCCTGCAAATACATTTGTCAGAAGGCAGGGAGGTCACTCAGGTCACTTCCTTGGTTCCCGCTATGTCCTGTGCCCTCATGATCCTTGGGCTGCGTGGGCATGGCCTCAGGCCTGGCCTGGCTCAGCTCAGGAGCCTTTGACCCAGCTCAGTGCTCCTGTATGGGGACCAGACACCGACAGGCCGCAGAGTGGGCTGAACTTCCCGGCTGTGAGCCGATGGCCCCACAGGAGACATCCTGGGAACGCAGGATGTGCGCAGTCCCAAGTCAAGGCTGTGCCGTGACTTGTTTTTCTCCGGAGCTGTGTGAACCAAACACTGGGCTGATCGCTCAAAATGAGCAACACAGGAAACAGTCCAGACTAAAGCCAAACTGCTGCAGTTTCTAAATCTGCCGACCCAGAACCTATTTCCCCAACCCAAGAGACCCAGCACTTGGTTTAAGCCCTTGGTGCGGCCCAAGCCCGCAGTTACCAGCAGCACCAGCGGTGGGCAGCCAATGAGTGCGATGGCTGTGGAGAGTTTCCGCTTGTTGCCCCCACTGTACGTGCCAGCCAGGCAGTCGGCGTAGACAGTCAGGCCCAGGCTCTTAATACTCCAGTTTGCAACCTAGGGAAGAGAAAGAAATGCCATTTGGAGAAGACAAGCAAACACCCCAAACCTCCCCCAGTTCAAAGCCTTGGGCTCCCAGATCTCACGCCTCCAGAATGAAATCCCCAGCTAGGCTGAAACAGGCTCCTGCTGGCTCCTGTCCTCTGGCATGTGCTTCAGGCGCCAGACAGGGGCTCTTTCTCTCTGTGTCTTGGATCCCAGGGTGGCCCAGCCTGCTCAGCATCTGTTGGGTGTAGCCGCCTGGGAAATGGACTTCAGCCTTACAAAGAGCAAGACAGTGGGTCTCGCCCAGCGTCCTGGACCATGGCTAGCAGTGGAGGAGGAAGGCTCTGTTTGAGAAGATGGTGAGTCCCAGACCTGTTGATCCCACCCGTCAAGAGGGTTACACCCAAAGCCTTGTGCATCCGACACATACCTATGGAGCACTGACCATACGCCAGGCACTGAACCAGGCACTGGAGAACAATGTGAACACAGCCATTGCTGCTATCCTCAGACTGCGGGGAGGTGGCAGTCAAAATAAACAGAATACTGGCAGATCGTGACAGTGCTGTGAGGGAACGATGACAGAGACACCAGGTGTGTGTGCACATGCGCAGGAGGGGATCTAGGGAAGCCACTGGAGACAAGCTCACCATGCTTCTGCCTTCTATACTAGTCCCCCGTGCCTGGAATGTTCCTCCCTAGGTGTGCACGTGGCTCCTTCTCTCACCTCTAGTTCTTCATTCAGGTTCTCTCCTCTGCAGGCTCTCCCTGGGCCACCCTACCTCAAAATGCAAACCCTGCCCCAGCAGTTCCTCCCTGCGTTACTTTTCCCTGAGGACTTTTCACTCTCTAATGTACTGGATATTTTACCTATTTATCTACAGATCGTCTATCCCTCCCACTAGAATGTAATCTCCATTTTTAACTTTTTATTTGGAAATAGTTTCAAACTCACACAAACATATAGGAATAAAAATAGTTCATAGAATTATT
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ACAGGCACCTGCCACCACACTCGGCTAATTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAAGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCTATTTTATTTTTTGAGACAGAGTCTTGCTGTTTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGATTCACTGCAACCTCTGCCTTCTGAGTTCAAGCAATTCTTGTGCCTCAGTTTCCCGAGTAGGTGGGATTACAGGTGCATACCACCATGCCCATCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCTTCCCAAAGTGATAGGATTACAGGTGTAAGCCACTGCACCTGGCCGTCAAAGGTAGTTTTAGCCCAGTGTGGGGATCCCAAGACTGCCCATAAAGACACGTGGACCAGTGCATACTGAGTGGTGGTAAGGGCTGATGGGCCAGGTGGGAGCAAAGGCTCGGGAAGGCAGCACTTCCCTGAGGAAGCTTCCTGAAACAATGGAGCTGCTAGGGCTTGGGCCATTGGTGCTTTCTTTCTCCTTCAGCAGGATGGCTGGTTACCCTCTCTTGGATGAGTGATGGTCCACCAGAGAGTGTGTGCACGGCTAGCGGGTGTCAGTACCCTATGCCCTGGTATCCTGTGTCAGTCATAACTGACTCCAAAGCTTCCTCCACAGTCTAGGGCTGTTCTCCTCTGCAGTAAGATGCAGAGGAGAAAGGCTGTTTACCTTTCAGCTCCAGAAAACTCACCATCCCTCCACACAGGGAACACTCCCCTCTCACCCCCTCTATCATGGAGATATTAAGGAGCTGGAGGGAAAGGAATAGGAGACTTCCCTTTCTCCAGCAGTTGGACACAGGAAGTTGCTGACACAGGTCTGGTGACCTGACATGCTGCTATTTCTATAGATATCTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAAGTGTTTGTTAAATAAATGAGTAATTGTAACTCTGCTCTTTTCTAGGTTATAAAGCATATCAGAACGTGAATGAGCACGGCAATATGCTGATAATCTTAAACTGTTAGCTTTGGCATGCAAACTCTTAATAATAAGGAATTATCTACAATAGTTTACAATGTGTGGGTACAGGATAAGGATAATCCTATTCAAGATTACTGCCATTGTTGGTTTGTCATATAACATATGGTCTTTTTTCAAACTCAAAAGCATACAATATTCTAAAAACAAAGATGGGTCCTCAAGTCAGTTGGTCTCCTAACCATTCCTACATTGGAGTGGACTCTTAGTAAATAGGCCACAGGTCCCGGATCTGTTGAGATAAGTGGTGAAATATTGAGGCAGTGGTAGCAGCCCTCCCTCATCCCAGCCAGGCTCTGCATGCATCCTGATCAGATGCCCCATCCAGAGACTTGGGCGAGTCTTCGACCACAGGAAATTAGGCCAATATAGAGGAGTTTCTTATCAGCATGATGGCCTTCTCCATCTGCTGCTGGAGAATGAGGCCCAGCCACCACCTGCCTCTGCCCCAGGGGATGACGGAGCAGCAGGACTCTTCCAAGTGTCAATGGAGAACACAGGATCCAGGTGGATCCACAGAAGGCAACAAGGGGCACGCCCCACCATCTGCTTACTTGGACTTGAGATGCTGAATGGTGCCCATACATCGAAAGGCGCCCTTTACCATGATGGCCAGCCGGGTACACAGTGCCTCACATTCTTCCTTGCTGTGGGGCAGGAGAGAGGAGGTGAGCAGGAGAGGATTCCCACCCACCTTCCCCAGCCCTGGGAATCTCTTGCCTGTGGGATGTGAGGACCACAGCCCTCCCTTCTCTGATGATGCTCACGATGACGTTCCACAGCATGCGGCGTGCCTGGGGGTCCATCCCTGTGGTGGGCTCATCCTGGGGGGTGGAGAGAAGGTTGGGGGCACAGGCTGGGAGCTGGCCCTTCTGATTACTGCTTCCCCCTGGGCTGGCTCCCCTGTGGAGGATGAGCTGACAGAAGGCGCACACAGTCACTCCCCTCACTTGAGCAAGACAGGGGTACCCTGGTGTAGGGTAGGGAAGGCAGGAGGTGGATCCAAGAGTAAAGAAGCGTGGCGTCCATCCTGGGCCCATTTCAGCCCACGAGGGGATTAAAGTGGATTAAGGCAATGACAGAATTCTCCTCAAAAAAAGAAAATCCTGCAAATACATTTGTCAGAAGGCAGGGAGGTCACTCAGGTCACTTCCTTGGTTCCCGCTATGTCCTGTGCCCTCATGATCCTTGGGCTGCGTGGGCATGGCCTCAGGCCTGGCCTGGCTCAGCTCAGGAGCCTTTGACCCAGCTCAGTGCTCCTGTATGGGGACCAGACACCGACAGGCCGCAGAGTGGGCTGAACTTCCCGGCTGTGAGCCGATGGCCCCACAGGAGACATCCTGGGAACGCAGGATGTGCGCAGTCCCAAGTCAAGGCTGTGCCGTGACTTGTTTTTCTCCGGAGCTGTGTGAACCAAACACTGGGCTGATCGCTCAAAATGAGCAACACAGGAAACAGTCCAGACTAAAGCCAAACTGCTGCAGTTTCTAAATCTGCCGACCCAGAACCTATTTCCCCAACCCAAGAGACCCAGCACTTGGTTTAAGCCCTTGGTGCGGCCCAAGCCCGCAGTTACCAGCAGCACCAGCGGTGGGCAGCCAATGAGTGCGATGGCTGTGGAGAGTTTCCGCTTGTTGCCCCCACTGTACGTGCCAGCCAGGCAGTCGGCGTAGACAGTCAGGCCCAGGCTCTTAATACTCCAGTTTGCAACCTAGGGAAGAGAAAGAAATGCCATTTGGAGAAGACAAGCAAACACCCCAAACCTCCCCCAGTTCAAAGCCTTGGGCTCCCAGATCTCACGCCTCCAGAATGAAATCCCCAGCTAGGCTGAAACAGGCTCCTGCTGGCTCCTGTCCTCTGGCATGTGCTTCAGGCGCCAGACAGGGGCTCTTTCTCTCTGTGTCTTGGATCCCAGGGTGGCCCAGCCTGCTCAGCATCTGTTGGGTGTAGCCGCCTGGGAAATGGACTTCAGCCTTACAAAGAGCAAGACAGTGGGTCTCGCCCAGCGTCCTGGACCATGGCTAGCAGTGGAGGAGGAAGGCTCTGTTTGAGAAGATGGTGAGTCCCAGACCTGTTGATCCCACCCGTCAAGAGGGTTACACCCAAAGCCTTGTGCATCCGACACATACCTATGGAGCACTGACCATACGCCAGGCACTGAACCAGGCACTGGAGAACAATGTGAACACAGCCATTGCTGCTATCCTCAGACTGCGGGGAGGTGGCAGTCAAAATAAACAGAATACTGGCAGATCGTGACAGTGCTGTGAGGGAACGATGACAGAGACACCAGGTGTGTGTGCACATGCGCAGGAGGGGATCTAGGGAAGCCACTGGAGACAAGCTCACCATGCTTCTGCCTTCTATACTAGTCCCCCGTGCCTGGAATGTTCCTCCCTAGGTGTGCACGTGGCTCCTTCTCTCACCTCTAGTTCTTCATTCAGGTTCTCTCCTCTGCAGGCTCTCCCTGGGCCACCCTACCTCAAAATGCAAACCCTGCCCCAGCAGTTCCTCCCTGCGTTACTTTTCCCTGAGGACTTTTCACTCTCTAATGTACTGGATATTTTACCTATTTATCTACAGATCGTCTATCCCTCCCACTAGAATGTAATCTCCATTTTTAACTTTTTATTTGGAAATAGTTTCAAACTCACACAAACATATAGGAATAAAAATAGTTCATAGAATTATT
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Task1_train_1107
|
Mutation context: Chromosome 1, Gene ABCA4 (ATP binding cassette subfamily A member 4). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
|
Pathogenic; not provided
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GCCAGGCTGGTCTTAAACTCCTGACCTCAAGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCTATTTTATTTTTTGAGACAGAGTCTTGCTGTTTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGATTCACTGCAACCTCTGCCTTCTGAGTTCAAGCAATTCTTGTGCCTCAGTTTCCCGAGTAGGTGGGATTACAGGTGCATACCACCATGCCCATCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCTTCCCAAAGTGATAGGATTACAGGTGTAAGCCACTGCACCTGGCCGTCAAAGGTAGTTTTAGCCCAGTGTGGGGATCCCAAGACTGCCCATAAAGACACGTGGACCAGTGCATACTGAGTGGTGGTAAGGGCTGATGGGCCAGGTGGGAGCAAAGGCTCGGGAAGGCAGCACTTCCCTGAGGAAGCTTCCTGAAACAATGGAGCTGCTAGGGCTTGGGCCATTGGTGCTTTCTTTCTCCTTCAGCAGGATGGCTGGTTACCCTCTCTTGGATGAGTGATGGTCCACCAGAGAGTGTGTGCACGGCTAGCGGGTGTCAGTACCCTATGCCCTGGTATCCTGTGTCAGTCATAACTGACTCCAAAGCTTCCTCCACAGTCTAGGGCTGTTCTCCTCTGCAGTAAGATGCAGAGGAGAAAGGCTGTTTACCTTTCAGCTCCAGAAAACTCACCATCCCTCCACACAGGGAACACTCCCCTCTCACCCCCTCTATCATGGAGATATTAAGGAGCTGGAGGGAAAGGAATAGGAGACTTCCCTTTCTCCAGCAGTTGGACACAGGAAGTTGCTGACACAGGTCTGGTGACCTGACATGCTGCTATTTCTATAGATATCTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAAGTGTTTGTTAAATAAATGAGTAATTGTAACTCTGCTCTTTTCTAGGTTATAAAGCATATCAGAACGTGAATGAGCACGGCAATATGCTGATAATCTTAAACTGTTAGCTTTGGCATGCAAACTCTTAATAATAAGGAATTATCTACAATAGTTTACAATGTGTGGGTACAGGATAAGGATAATCCTATTCAAGATTACTGCCATTGTTGGTTTGTCATATAACATATGGTCTTTTTTCAAACTCAAAAGCATACAATATTCTAAAAACAAAGATGGGTCCTCAAGTCAGTTGGTCTCCTAACCATTCCTACATTGGAGTGGACTCTTAGTAAATAGGCCACAGGTCCCGGATCTGTTGAGATAAGTGGTGAAATATTGAGGCAGTGGTAGCAGCCCTCCCTCATCCCAGCCAGGCTCTGCATGCATCCTGATCAGATGCCCCATCCAGAGACTTGGGCGAGTCTTCGACCACAGGAAATTAGGCCAATATAGAGGAGTTTCTTATCAGCATGATGGCCTTCTCCATCTGCTGCTGGAGAATGAGGCCCAGCCACCACCTGCCTCTGCCCCAGGGGATGACGGAGCAGCAGGACTCTTCCAAGTGTCAATGGAGAACACAGGATCCAGGTGGATCCACAGAAGGCAACAAGGGGCACGCCCCACCATCTGCTTACTTGGACTTGAGATGCTGAATGGTGCCCATACATCGAAAGGCGCCCTTTACCATGATGGCCAGCCGGGTACACAGTGCCTCACATTCTTCCATGCTGTGGGGCAGGAGAGAGGAGGTGAGCAGGAGAGGATTCCCACCCACCTTCCCCAGCCCTGGGAATCTCTTGCCTGTGGGATGTGAGGACCACAGCCCTCCCTTCTCTGATGATGCTCACGATGACGTTCCACAGCATGCGGCGTGCCTGGGGGTCCATCCCTGTGGTGGGCTCATCCTGGGGGGTGGAGAGAAGGTTGGGGGCACAGGCTGGGAGCTGGCCCTTCTGATTACTGCTTCCCCCTGGGCTGGCTCCCCTGTGGAGGATGAGCTGACAGAAGGCGCACACAGTCACTCCCCTCACTTGAGCAAGACAGGGGTACCCTGGTGTAGGGTAGGGAAGGCAGGAGGTGGATCCAAGAGTAAAGAAGCGTGGCGTCCATCCTGGGCCCATTTCAGCCCACGAGGGGATTAAAGTGGATTAAGGCAATGACAGAATTCTCCTCAAAAAAAGAAAATCCTGCAAATACATTTGTCAGAAGGCAGGGAGGTCACTCAGGTCACTTCCTTGGTTCCCGCTATGTCCTGTGCCCTCATGATCCTTGGGCTGCGTGGGCATGGCCTCAGGCCTGGCCTGGCTCAGCTCAGGAGCCTTTGACCCAGCTCAGTGCTCCTGTATGGGGACCAGACACCGACAGGCCGCAGAGTGGGCTGAACTTCCCGGCTGTGAGCCGATGGCCCCACAGGAGACATCCTGGGAACGCAGGATGTGCGCAGTCCCAAGTCAAGGCTGTGCCGTGACTTGTTTTTCTCCGGAGCTGTGTGAACCAAACACTGGGCTGATCGCTCAAAATGAGCAACACAGGAAACAGTCCAGACTAAAGCCAAACTGCTGCAGTTTCTAAATCTGCCGACCCAGAACCTATTTCCCCAACCCAAGAGACCCAGCACTTGGTTTAAGCCCTTGGTGCGGCCCAAGCCCGCAGTTACCAGCAGCACCAGCGGTGGGCAGCCAATGAGTGCGATGGCTGTGGAGAGTTTCCGCTTGTTGCCCCCACTGTACGTGCCAGCCAGGCAGTCGGCGTAGACAGTCAGGCCCAGGCTCTTAATACTCCAGTTTGCAACCTAGGGAAGAGAAAGAAATGCCATTTGGAGAAGACAAGCAAACACCCCAAACCTCCCCCAGTTCAAAGCCTTGGGCTCCCAGATCTCACGCCTCCAGAATGAAATCCCCAGCTAGGCTGAAACAGGCTCCTGCTGGCTCCTGTCCTCTGGCATGTGCTTCAGGCGCCAGACAGGGGCTCTTTCTCTCTGTGTCTTGGATCCCAGGGTGGCCCAGCCTGCTCAGCATCTGTTGGGTGTAGCCGCCTGGGAAATGGACTTCAGCCTTACAAAGAGCAAGACAGTGGGTCTCGCCCAGCGTCCTGGACCATGGCTAGCAGTGGAGGAGGAAGGCTCTGTTTGAGAAGATGGTGAGTCCCAGACCTGTTGATCCCACCCGTCAAGAGGGTTACACCCAAAGCCTTGTGCATCCGACACATACCTATGGAGCACTGACCATACGCCAGGCACTGAACCAGGCACTGGAGAACAATGTGAACACAGCCATTGCTGCTATCCTCAGACTGCGGGGAGGTGGCAGTCAAAATAAACAGAATACTGGCAGATCGTGACAGTGCTGTGAGGGAACGATGACAGAGACACCAGGTGTGTGTGCACATGCGCAGGAGGGGATCTAGGGAAGCCACTGGAGACAAGCTCACCATGCTTCTGCCTTCTATACTAGTCCCCCGTGCCTGGAATGTTCCTCCCTAGGTGTGCACGTGGCTCCTTCTCTCACCTCTAGTTCTTCATTCAGGTTCTCTCCTCTGCAGGCTCTCCCTGGGCCACCCTACCTCAAAATGCAAACCCTGCCCCAGCAGTTCCTCCCTGCGTTACTTTTCCCTGAGGACTTTTCACTCTCTAATGTACTGGATATTTTACCTATTTATCTACAGATCGTCTATCCCTCCCACTAGAATGTAATCTCCATTTTTAACTTTTTATTTGGAAATAGTTTCAAACTCACACAAACATATAGGAATAAAAATAGTTCATAGAATTATTAACTAATAAAACCCTTCTCTCTCTCACACACAATTTTTTGTGACCCATTTGAGGGTAAATTACTCATCACAGCCCTTCA
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GCCAGGCTGGTCTTAAACTCCTGACCTCAAGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCTATTTTATTTTTTGAGACAGAGTCTTGCTGTTTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGATTCACTGCAACCTCTGCCTTCTGAGTTCAAGCAATTCTTGTGCCTCAGTTTCCCGAGTAGGTGGGATTACAGGTGCATACCACCATGCCCATCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCTTCCCAAAGTGATAGGATTACAGGTGTAAGCCACTGCACCTGGCCGTCAAAGGTAGTTTTAGCCCAGTGTGGGGATCCCAAGACTGCCCATAAAGACACGTGGACCAGTGCATACTGAGTGGTGGTAAGGGCTGATGGGCCAGGTGGGAGCAAAGGCTCGGGAAGGCAGCACTTCCCTGAGGAAGCTTCCTGAAACAATGGAGCTGCTAGGGCTTGGGCCATTGGTGCTTTCTTTCTCCTTCAGCAGGATGGCTGGTTACCCTCTCTTGGATGAGTGATGGTCCACCAGAGAGTGTGTGCACGGCTAGCGGGTGTCAGTACCCTATGCCCTGGTATCCTGTGTCAGTCATAACTGACTCCAAAGCTTCCTCCACAGTCTAGGGCTGTTCTCCTCTGCAGTAAGATGCAGAGGAGAAAGGCTGTTTACCTTTCAGCTCCAGAAAACTCACCATCCCTCCACACAGGGAACACTCCCCTCTCACCCCCTCTATCATGGAGATATTAAGGAGCTGGAGGGAAAGGAATAGGAGACTTCCCTTTCTCCAGCAGTTGGACACAGGAAGTTGCTGACACAGGTCTGGTGACCTGACATGCTGCTATTTCTATAGATATCTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAAGTGTTTGTTAAATAAATGAGTAATTGTAACTCTGCTCTTTTCTAGGTTATAAAGCATATCAGAACGTGAATGAGCACGGCAATATGCTGATAATCTTAAACTGTTAGCTTTGGCATGCAAACTCTTAATAATAAGGAATTATCTACAATAGTTTACAATGTGTGGGTACAGGATAAGGATAATCCTATTCAAGATTACTGCCATTGTTGGTTTGTCATATAACATATGGTCTTTTTTCAAACTCAAAAGCATACAATATTCTAAAAACAAAGATGGGTCCTCAAGTCAGTTGGTCTCCTAACCATTCCTACATTGGAGTGGACTCTTAGTAAATAGGCCACAGGTCCCGGATCTGTTGAGATAAGTGGTGAAATATTGAGGCAGTGGTAGCAGCCCTCCCTCATCCCAGCCAGGCTCTGCATGCATCCTGATCAGATGCCCCATCCAGAGACTTGGGCGAGTCTTCGACCACAGGAAATTAGGCCAATATAGAGGAGTTTCTTATCAGCATGATGGCCTTCTCCATCTGCTGCTGGAGAATGAGGCCCAGCCACCACCTGCCTCTGCCCCAGGGGATGACGGAGCAGCAGGACTCTTCCAAGTGTCAATGGAGAACACAGGATCCAGGTGGATCCACAGAAGGCAACAAGGGGCACGCCCCACCATCTGCTTACTTGGACTTGAGATGCTGAATGGTGCCCATACATCGAAAGGCGCCCTTTACCATGATGGCCAGCCGGGTACACAGTGCCTCACATTCTTCCATGCTGTGGGGCAGGAGAGAGGAGGTGAGCAGGAGAGGATTCCCACCCACCTTCCCCAGCCCTGGGAATCTCTTGCCTGCGGGATGTGAGGACCACAGCCCTCCCTTCTCTGATGATGCTCACGATGACGTTCCACAGCATGCGGCGTGCCTGGGGGTCCATCCCTGTGGTGGGCTCATCCTGGGGGGTGGAGAGAAGGTTGGGGGCACAGGCTGGGAGCTGGCCCTTCTGATTACTGCTTCCCCCTGGGCTGGCTCCCCTGTGGAGGATGAGCTGACAGAAGGCGCACACAGTCACTCCCCTCACTTGAGCAAGACAGGGGTACCCTGGTGTAGGGTAGGGAAGGCAGGAGGTGGATCCAAGAGTAAAGAAGCGTGGCGTCCATCCTGGGCCCATTTCAGCCCACGAGGGGATTAAAGTGGATTAAGGCAATGACAGAATTCTCCTCAAAAAAAGAAAATCCTGCAAATACATTTGTCAGAAGGCAGGGAGGTCACTCAGGTCACTTCCTTGGTTCCCGCTATGTCCTGTGCCCTCATGATCCTTGGGCTGCGTGGGCATGGCCTCAGGCCTGGCCTGGCTCAGCTCAGGAGCCTTTGACCCAGCTCAGTGCTCCTGTATGGGGACCAGACACCGACAGGCCGCAGAGTGGGCTGAACTTCCCGGCTGTGAGCCGATGGCCCCACAGGAGACATCCTGGGAACGCAGGATGTGCGCAGTCCCAAGTCAAGGCTGTGCCGTGACTTGTTTTTCTCCGGAGCTGTGTGAACCAAACACTGGGCTGATCGCTCAAAATGAGCAACACAGGAAACAGTCCAGACTAAAGCCAAACTGCTGCAGTTTCTAAATCTGCCGACCCAGAACCTATTTCCCCAACCCAAGAGACCCAGCACTTGGTTTAAGCCCTTGGTGCGGCCCAAGCCCGCAGTTACCAGCAGCACCAGCGGTGGGCAGCCAATGAGTGCGATGGCTGTGGAGAGTTTCCGCTTGTTGCCCCCACTGTACGTGCCAGCCAGGCAGTCGGCGTAGACAGTCAGGCCCAGGCTCTTAATACTCCAGTTTGCAACCTAGGGAAGAGAAAGAAATGCCATTTGGAGAAGACAAGCAAACACCCCAAACCTCCCCCAGTTCAAAGCCTTGGGCTCCCAGATCTCACGCCTCCAGAATGAAATCCCCAGCTAGGCTGAAACAGGCTCCTGCTGGCTCCTGTCCTCTGGCATGTGCTTCAGGCGCCAGACAGGGGCTCTTTCTCTCTGTGTCTTGGATCCCAGGGTGGCCCAGCCTGCTCAGCATCTGTTGGGTGTAGCCGCCTGGGAAATGGACTTCAGCCTTACAAAGAGCAAGACAGTGGGTCTCGCCCAGCGTCCTGGACCATGGCTAGCAGTGGAGGAGGAAGGCTCTGTTTGAGAAGATGGTGAGTCCCAGACCTGTTGATCCCACCCGTCAAGAGGGTTACACCCAAAGCCTTGTGCATCCGACACATACCTATGGAGCACTGACCATACGCCAGGCACTGAACCAGGCACTGGAGAACAATGTGAACACAGCCATTGCTGCTATCCTCAGACTGCGGGGAGGTGGCAGTCAAAATAAACAGAATACTGGCAGATCGTGACAGTGCTGTGAGGGAACGATGACAGAGACACCAGGTGTGTGTGCACATGCGCAGGAGGGGATCTAGGGAAGCCACTGGAGACAAGCTCACCATGCTTCTGCCTTCTATACTAGTCCCCCGTGCCTGGAATGTTCCTCCCTAGGTGTGCACGTGGCTCCTTCTCTCACCTCTAGTTCTTCATTCAGGTTCTCTCCTCTGCAGGCTCTCCCTGGGCCACCCTACCTCAAAATGCAAACCCTGCCCCAGCAGTTCCTCCCTGCGTTACTTTTCCCTGAGGACTTTTCACTCTCTAATGTACTGGATATTTTACCTATTTATCTACAGATCGTCTATCCCTCCCACTAGAATGTAATCTCCATTTTTAACTTTTTATTTGGAAATAGTTTCAAACTCACACAAACATATAGGAATAAAAATAGTTCATAGAATTATTAACTAATAAAACCCTTCTCTCTCTCACACACAATTTTTTGTGACCCATTTGAGGGTAAATTACTCATCACAGCCCTTCA
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Task1_train_1108
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Consider a variant on Chromosome 1 in gene ABCA4 (ATP binding cassette subfamily A member 4). Determine its clinical classification and disease relevance.
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Pathogenic; Retinal dystrophy
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GATTACAGGCATGAGCCACCACGCCCAGCCTATTTTATTTTTTGAGACAGAGTCTTGCTGTTTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGATTCACTGCAACCTCTGCCTTCTGAGTTCAAGCAATTCTTGTGCCTCAGTTTCCCGAGTAGGTGGGATTACAGGTGCATACCACCATGCCCATCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCTTCCCAAAGTGATAGGATTACAGGTGTAAGCCACTGCACCTGGCCGTCAAAGGTAGTTTTAGCCCAGTGTGGGGATCCCAAGACTGCCCATAAAGACACGTGGACCAGTGCATACTGAGTGGTGGTAAGGGCTGATGGGCCAGGTGGGAGCAAAGGCTCGGGAAGGCAGCACTTCCCTGAGGAAGCTTCCTGAAACAATGGAGCTGCTAGGGCTTGGGCCATTGGTGCTTTCTTTCTCCTTCAGCAGGATGGCTGGTTACCCTCTCTTGGATGAGTGATGGTCCACCAGAGAGTGTGTGCACGGCTAGCGGGTGTCAGTACCCTATGCCCTGGTATCCTGTGTCAGTCATAACTGACTCCAAAGCTTCCTCCACAGTCTAGGGCTGTTCTCCTCTGCAGTAAGATGCAGAGGAGAAAGGCTGTTTACCTTTCAGCTCCAGAAAACTCACCATCCCTCCACACAGGGAACACTCCCCTCTCACCCCCTCTATCATGGAGATATTAAGGAGCTGGAGGGAAAGGAATAGGAGACTTCCCTTTCTCCAGCAGTTGGACACAGGAAGTTGCTGACACAGGTCTGGTGACCTGACATGCTGCTATTTCTATAGATATCTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAAGTGTTTGTTAAATAAATGAGTAATTGTAACTCTGCTCTTTTCTAGGTTATAAAGCATATCAGAACGTGAATGAGCACGGCAATATGCTGATAATCTTAAACTGTTAGCTTTGGCATGCAAACTCTTAATAATAAGGAATTATCTACAATAGTTTACAATGTGTGGGTACAGGATAAGGATAATCCTATTCAAGATTACTGCCATTGTTGGTTTGTCATATAACATATGGTCTTTTTTCAAACTCAAAAGCATACAATATTCTAAAAACAAAGATGGGTCCTCAAGTCAGTTGGTCTCCTAACCATTCCTACATTGGAGTGGACTCTTAGTAAATAGGCCACAGGTCCCGGATCTGTTGAGATAAGTGGTGAAATATTGAGGCAGTGGTAGCAGCCCTCCCTCATCCCAGCCAGGCTCTGCATGCATCCTGATCAGATGCCCCATCCAGAGACTTGGGCGAGTCTTCGACCACAGGAAATTAGGCCAATATAGAGGAGTTTCTTATCAGCATGATGGCCTTCTCCATCTGCTGCTGGAGAATGAGGCCCAGCCACCACCTGCCTCTGCCCCAGGGGATGACGGAGCAGCAGGACTCTTCCAAGTGTCAATGGAGAACACAGGATCCAGGTGGATCCACAGAAGGCAACAAGGGGCACGCCCCACCATCTGCTTACTTGGACTTGAGATGCTGAATGGTGCCCATACATCGAAAGGCGCCCTTTACCATGATGGCCAGCCGGGTACACAGTGCCTCACATTCTTCCATGCTGTGGGGCAGGAGAGAGGAGGTGAGCAGGAGAGGATTCCCACCCACCTTCCCCAGCCCTGGGAATCTCTTGCCTGTGGGATGTGAGGACCACAGCCCTCCCTTCTCTGATGATGCTCACGATGACGTTCCACAGCATGCGGCGTGCCTGGGGGTCCATCCCTGTGGTGGGCTCATCCTGGGGGGTGGAGAGAAGGTTGGGGGCACAGGCTGGGAGCTGGCCCTTCTGATTACTGCTTCCCCCTGGGCTGGCTCCCCTGTGGAGGATGAGCTGACAGAAGGCGCACACAGTCACTCCCCTCACTTGAGCAAGACAGGGGTACCCTGGTGTAGGGTAGGGAAGGCAGGAGGTGGATCCAAGAGTAAAGAAGCGTGGCGTCCATCCTGGGCCCATTTCAGCCCACGAGGGGATTAAAGTGGATTAAGGCAATGACAGAATTCTCCTCAAAAAAAGAAAATCCTGCAAATACATTTGTCAGAAGGCAGGGAGGTCACTCAGGTCACTTCCTTGGTTCCCGCTATGTCCTGTGCCCTCATGATCCTTGGGCTGCGTGGGCATGGCCTCAGGCCTGGCCTGGCTCAGCTCAGGAGCCTTTGACCCAGCTCAGTGCTCCTGTATGGGGACCAGACACCGACAGGCCGCAGAGTGGGCTGAACTTCCCGGCTGTGAGCCGATGGCCCCACAGGAGACATCCTGGGAACGCAGGATGTGCGCAGTCCCAAGTCAAGGCTGTGCCGTGACTTGTTTTTCTCCGGAGCTGTGTGAACCAAACACTGGGCTGATCGCTCAAAATGAGCAACACAGGAAACAGTCCAGACTAAAGCCAAACTGCTGCAGTTTCTAAATCTGCCGACCCAGAACCTATTTCCCCAACCCAAGAGACCCAGCACTTGGTTTAAGCCCTTGGTGCGGCCCAAGCCCGCAGTTACCAGCAGCACCAGCGGTGGGCAGCCAATGAGTGCGATGGCTGTGGAGAGTTTCCGCTTGTTGCCCCCACTGTACGTGCCAGCCAGGCAGTCGGCGTAGACAGTCAGGCCCAGGCTCTTAATACTCCAGTTTGCAACCTAGGGAAGAGAAAGAAATGCCATTTGGAGAAGACAAGCAAACACCCCAAACCTCCCCCAGTTCAAAGCCTTGGGCTCCCAGATCTCACGCCTCCAGAATGAAATCCCCAGCTAGGCTGAAACAGGCTCCTGCTGGCTCCTGTCCTCTGGCATGTGCTTCAGGCGCCAGACAGGGGCTCTTTCTCTCTGTGTCTTGGATCCCAGGGTGGCCCAGCCTGCTCAGCATCTGTTGGGTGTAGCCGCCTGGGAAATGGACTTCAGCCTTACAAAGAGCAAGACAGTGGGTCTCGCCCAGCGTCCTGGACCATGGCTAGCAGTGGAGGAGGAAGGCTCTGTTTGAGAAGATGGTGAGTCCCAGACCTGTTGATCCCACCCGTCAAGAGGGTTACACCCAAAGCCTTGTGCATCCGACACATACCTATGGAGCACTGACCATACGCCAGGCACTGAACCAGGCACTGGAGAACAATGTGAACACAGCCATTGCTGCTATCCTCAGACTGCGGGGAGGTGGCAGTCAAAATAAACAGAATACTGGCAGATCGTGACAGTGCTGTGAGGGAACGATGACAGAGACACCAGGTGTGTGTGCACATGCGCAGGAGGGGATCTAGGGAAGCCACTGGAGACAAGCTCACCATGCTTCTGCCTTCTATACTAGTCCCCCGTGCCTGGAATGTTCCTCCCTAGGTGTGCACGTGGCTCCTTCTCTCACCTCTAGTTCTTCATTCAGGTTCTCTCCTCTGCAGGCTCTCCCTGGGCCACCCTACCTCAAAATGCAAACCCTGCCCCAGCAGTTCCTCCCTGCGTTACTTTTCCCTGAGGACTTTTCACTCTCTAATGTACTGGATATTTTACCTATTTATCTACAGATCGTCTATCCCTCCCACTAGAATGTAATCTCCATTTTTAACTTTTTATTTGGAAATAGTTTCAAACTCACACAAACATATAGGAATAAAAATAGTTCATAGAATTATTAACTAATAAAACCCTTCTCTCTCTCACACACAATTTTTTGTGACCCATTTGAGGGTAAATTACTCATCACAGCCCTTCACTCCTAAATACTTCAGGGCATATTTCCTAAGAATAGAGATCTTCTCTTACATAACCACAGTACA
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GATTACAGGCATGAGCCACCACGCCCAGCCTATTTTATTTTTTGAGACAGAGTCTTGCTGTTTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGATTCACTGCAACCTCTGCCTTCTGAGTTCAAGCAATTCTTGTGCCTCAGTTTCCCGAGTAGGTGGGATTACAGGTGCATACCACCATGCCCATCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCTTCCCAAAGTGATAGGATTACAGGTGTAAGCCACTGCACCTGGCCGTCAAAGGTAGTTTTAGCCCAGTGTGGGGATCCCAAGACTGCCCATAAAGACACGTGGACCAGTGCATACTGAGTGGTGGTAAGGGCTGATGGGCCAGGTGGGAGCAAAGGCTCGGGAAGGCAGCACTTCCCTGAGGAAGCTTCCTGAAACAATGGAGCTGCTAGGGCTTGGGCCATTGGTGCTTTCTTTCTCCTTCAGCAGGATGGCTGGTTACCCTCTCTTGGATGAGTGATGGTCCACCAGAGAGTGTGTGCACGGCTAGCGGGTGTCAGTACCCTATGCCCTGGTATCCTGTGTCAGTCATAACTGACTCCAAAGCTTCCTCCACAGTCTAGGGCTGTTCTCCTCTGCAGTAAGATGCAGAGGAGAAAGGCTGTTTACCTTTCAGCTCCAGAAAACTCACCATCCCTCCACACAGGGAACACTCCCCTCTCACCCCCTCTATCATGGAGATATTAAGGAGCTGGAGGGAAAGGAATAGGAGACTTCCCTTTCTCCAGCAGTTGGACACAGGAAGTTGCTGACACAGGTCTGGTGACCTGACATGCTGCTATTTCTATAGATATCTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAAGTGTTTGTTAAATAAATGAGTAATTGTAACTCTGCTCTTTTCTAGGTTATAAAGCATATCAGAACGTGAATGAGCACGGCAATATGCTGATAATCTTAAACTGTTAGCTTTGGCATGCAAACTCTTAATAATAAGGAATTATCTACAATAGTTTACAATGTGTGGGTACAGGATAAGGATAATCCTATTCAAGATTACTGCCATTGTTGGTTTGTCATATAACATATGGTCTTTTTTCAAACTCAAAAGCATACAATATTCTAAAAACAAAGATGGGTCCTCAAGTCAGTTGGTCTCCTAACCATTCCTACATTGGAGTGGACTCTTAGTAAATAGGCCACAGGTCCCGGATCTGTTGAGATAAGTGGTGAAATATTGAGGCAGTGGTAGCAGCCCTCCCTCATCCCAGCCAGGCTCTGCATGCATCCTGATCAGATGCCCCATCCAGAGACTTGGGCGAGTCTTCGACCACAGGAAATTAGGCCAATATAGAGGAGTTTCTTATCAGCATGATGGCCTTCTCCATCTGCTGCTGGAGAATGAGGCCCAGCCACCACCTGCCTCTGCCCCAGGGGATGACGGAGCAGCAGGACTCTTCCAAGTGTCAATGGAGAACACAGGATCCAGGTGGATCCACAGAAGGCAACAAGGGGCACGCCCCACCATCTGCTTACTTGGACTTGAGATGCTGAATGGTGCCCATACATCGAAAGGCGCCCTTTACCATGATGGCCAGCCGGGTACACAGTGCCTCACATTCTTCCATGCTGTGGGGCAGGAGAGAGGAGGTGAGCAGGAGAGGATTCCCACCCACCTTCCCCAGCCCTGGGAATCTCTTGCCTGTGGGATGTGAGGACCACAGCCCTCCCTTCTCTGATGATGCTCACGATGACGTTCCACAGCATGCAGCGTGCCTGGGGGTCCATCCCTGTGGTGGGCTCATCCTGGGGGGTGGAGAGAAGGTTGGGGGCACAGGCTGGGAGCTGGCCCTTCTGATTACTGCTTCCCCCTGGGCTGGCTCCCCTGTGGAGGATGAGCTGACAGAAGGCGCACACAGTCACTCCCCTCACTTGAGCAAGACAGGGGTACCCTGGTGTAGGGTAGGGAAGGCAGGAGGTGGATCCAAGAGTAAAGAAGCGTGGCGTCCATCCTGGGCCCATTTCAGCCCACGAGGGGATTAAAGTGGATTAAGGCAATGACAGAATTCTCCTCAAAAAAAGAAAATCCTGCAAATACATTTGTCAGAAGGCAGGGAGGTCACTCAGGTCACTTCCTTGGTTCCCGCTATGTCCTGTGCCCTCATGATCCTTGGGCTGCGTGGGCATGGCCTCAGGCCTGGCCTGGCTCAGCTCAGGAGCCTTTGACCCAGCTCAGTGCTCCTGTATGGGGACCAGACACCGACAGGCCGCAGAGTGGGCTGAACTTCCCGGCTGTGAGCCGATGGCCCCACAGGAGACATCCTGGGAACGCAGGATGTGCGCAGTCCCAAGTCAAGGCTGTGCCGTGACTTGTTTTTCTCCGGAGCTGTGTGAACCAAACACTGGGCTGATCGCTCAAAATGAGCAACACAGGAAACAGTCCAGACTAAAGCCAAACTGCTGCAGTTTCTAAATCTGCCGACCCAGAACCTATTTCCCCAACCCAAGAGACCCAGCACTTGGTTTAAGCCCTTGGTGCGGCCCAAGCCCGCAGTTACCAGCAGCACCAGCGGTGGGCAGCCAATGAGTGCGATGGCTGTGGAGAGTTTCCGCTTGTTGCCCCCACTGTACGTGCCAGCCAGGCAGTCGGCGTAGACAGTCAGGCCCAGGCTCTTAATACTCCAGTTTGCAACCTAGGGAAGAGAAAGAAATGCCATTTGGAGAAGACAAGCAAACACCCCAAACCTCCCCCAGTTCAAAGCCTTGGGCTCCCAGATCTCACGCCTCCAGAATGAAATCCCCAGCTAGGCTGAAACAGGCTCCTGCTGGCTCCTGTCCTCTGGCATGTGCTTCAGGCGCCAGACAGGGGCTCTTTCTCTCTGTGTCTTGGATCCCAGGGTGGCCCAGCCTGCTCAGCATCTGTTGGGTGTAGCCGCCTGGGAAATGGACTTCAGCCTTACAAAGAGCAAGACAGTGGGTCTCGCCCAGCGTCCTGGACCATGGCTAGCAGTGGAGGAGGAAGGCTCTGTTTGAGAAGATGGTGAGTCCCAGACCTGTTGATCCCACCCGTCAAGAGGGTTACACCCAAAGCCTTGTGCATCCGACACATACCTATGGAGCACTGACCATACGCCAGGCACTGAACCAGGCACTGGAGAACAATGTGAACACAGCCATTGCTGCTATCCTCAGACTGCGGGGAGGTGGCAGTCAAAATAAACAGAATACTGGCAGATCGTGACAGTGCTGTGAGGGAACGATGACAGAGACACCAGGTGTGTGTGCACATGCGCAGGAGGGGATCTAGGGAAGCCACTGGAGACAAGCTCACCATGCTTCTGCCTTCTATACTAGTCCCCCGTGCCTGGAATGTTCCTCCCTAGGTGTGCACGTGGCTCCTTCTCTCACCTCTAGTTCTTCATTCAGGTTCTCTCCTCTGCAGGCTCTCCCTGGGCCACCCTACCTCAAAATGCAAACCCTGCCCCAGCAGTTCCTCCCTGCGTTACTTTTCCCTGAGGACTTTTCACTCTCTAATGTACTGGATATTTTACCTATTTATCTACAGATCGTCTATCCCTCCCACTAGAATGTAATCTCCATTTTTAACTTTTTATTTGGAAATAGTTTCAAACTCACACAAACATATAGGAATAAAAATAGTTCATAGAATTATTAACTAATAAAACCCTTCTCTCTCTCACACACAATTTTTTGTGACCCATTTGAGGGTAAATTACTCATCACAGCCCTTCACTCCTAAATACTTCAGGGCATATTTCCTAAGAATAGAGATCTTCTCTTACATAACCACAGTACA
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Task1_train_1109
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A variant affecting Chromosome 1, within the gene ABCA4 (ATP binding cassette subfamily A member 4), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Stargardt disease
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AGCCACCACGCCCAGCCTATTTTATTTTTTGAGACAGAGTCTTGCTGTTTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGATTCACTGCAACCTCTGCCTTCTGAGTTCAAGCAATTCTTGTGCCTCAGTTTCCCGAGTAGGTGGGATTACAGGTGCATACCACCATGCCCATCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCTTCCCAAAGTGATAGGATTACAGGTGTAAGCCACTGCACCTGGCCGTCAAAGGTAGTTTTAGCCCAGTGTGGGGATCCCAAGACTGCCCATAAAGACACGTGGACCAGTGCATACTGAGTGGTGGTAAGGGCTGATGGGCCAGGTGGGAGCAAAGGCTCGGGAAGGCAGCACTTCCCTGAGGAAGCTTCCTGAAACAATGGAGCTGCTAGGGCTTGGGCCATTGGTGCTTTCTTTCTCCTTCAGCAGGATGGCTGGTTACCCTCTCTTGGATGAGTGATGGTCCACCAGAGAGTGTGTGCACGGCTAGCGGGTGTCAGTACCCTATGCCCTGGTATCCTGTGTCAGTCATAACTGACTCCAAAGCTTCCTCCACAGTCTAGGGCTGTTCTCCTCTGCAGTAAGATGCAGAGGAGAAAGGCTGTTTACCTTTCAGCTCCAGAAAACTCACCATCCCTCCACACAGGGAACACTCCCCTCTCACCCCCTCTATCATGGAGATATTAAGGAGCTGGAGGGAAAGGAATAGGAGACTTCCCTTTCTCCAGCAGTTGGACACAGGAAGTTGCTGACACAGGTCTGGTGACCTGACATGCTGCTATTTCTATAGATATCTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAAGTGTTTGTTAAATAAATGAGTAATTGTAACTCTGCTCTTTTCTAGGTTATAAAGCATATCAGAACGTGAATGAGCACGGCAATATGCTGATAATCTTAAACTGTTAGCTTTGGCATGCAAACTCTTAATAATAAGGAATTATCTACAATAGTTTACAATGTGTGGGTACAGGATAAGGATAATCCTATTCAAGATTACTGCCATTGTTGGTTTGTCATATAACATATGGTCTTTTTTCAAACTCAAAAGCATACAATATTCTAAAAACAAAGATGGGTCCTCAAGTCAGTTGGTCTCCTAACCATTCCTACATTGGAGTGGACTCTTAGTAAATAGGCCACAGGTCCCGGATCTGTTGAGATAAGTGGTGAAATATTGAGGCAGTGGTAGCAGCCCTCCCTCATCCCAGCCAGGCTCTGCATGCATCCTGATCAGATGCCCCATCCAGAGACTTGGGCGAGTCTTCGACCACAGGAAATTAGGCCAATATAGAGGAGTTTCTTATCAGCATGATGGCCTTCTCCATCTGCTGCTGGAGAATGAGGCCCAGCCACCACCTGCCTCTGCCCCAGGGGATGACGGAGCAGCAGGACTCTTCCAAGTGTCAATGGAGAACACAGGATCCAGGTGGATCCACAGAAGGCAACAAGGGGCACGCCCCACCATCTGCTTACTTGGACTTGAGATGCTGAATGGTGCCCATACATCGAAAGGCGCCCTTTACCATGATGGCCAGCCGGGTACACAGTGCCTCACATTCTTCCATGCTGTGGGGCAGGAGAGAGGAGGTGAGCAGGAGAGGATTCCCACCCACCTTCCCCAGCCCTGGGAATCTCTTGCCTGTGGGATGTGAGGACCACAGCCCTCCCTTCTCTGATGATGCTCACGATGACGTTCCACAGCATGCGGCGTGCCTGGGGGTCCATCCCTGTGGTGGGCTCATCCTGGGGGGTGGAGAGAAGGTTGGGGGCACAGGCTGGGAGCTGGCCCTTCTGATTACTGCTTCCCCCTGGGCTGGCTCCCCTGTGGAGGATGAGCTGACAGAAGGCGCACACAGTCACTCCCCTCACTTGAGCAAGACAGGGGTACCCTGGTGTAGGGTAGGGAAGGCAGGAGGTGGATCCAAGAGTAAAGAAGCGTGGCGTCCATCCTGGGCCCATTTCAGCCCACGAGGGGATTAAAGTGGATTAAGGCAATGACAGAATTCTCCTCAAAAAAAGAAAATCCTGCAAATACATTTGTCAGAAGGCAGGGAGGTCACTCAGGTCACTTCCTTGGTTCCCGCTATGTCCTGTGCCCTCATGATCCTTGGGCTGCGTGGGCATGGCCTCAGGCCTGGCCTGGCTCAGCTCAGGAGCCTTTGACCCAGCTCAGTGCTCCTGTATGGGGACCAGACACCGACAGGCCGCAGAGTGGGCTGAACTTCCCGGCTGTGAGCCGATGGCCCCACAGGAGACATCCTGGGAACGCAGGATGTGCGCAGTCCCAAGTCAAGGCTGTGCCGTGACTTGTTTTTCTCCGGAGCTGTGTGAACCAAACACTGGGCTGATCGCTCAAAATGAGCAACACAGGAAACAGTCCAGACTAAAGCCAAACTGCTGCAGTTTCTAAATCTGCCGACCCAGAACCTATTTCCCCAACCCAAGAGACCCAGCACTTGGTTTAAGCCCTTGGTGCGGCCCAAGCCCGCAGTTACCAGCAGCACCAGCGGTGGGCAGCCAATGAGTGCGATGGCTGTGGAGAGTTTCCGCTTGTTGCCCCCACTGTACGTGCCAGCCAGGCAGTCGGCGTAGACAGTCAGGCCCAGGCTCTTAATACTCCAGTTTGCAACCTAGGGAAGAGAAAGAAATGCCATTTGGAGAAGACAAGCAAACACCCCAAACCTCCCCCAGTTCAAAGCCTTGGGCTCCCAGATCTCACGCCTCCAGAATGAAATCCCCAGCTAGGCTGAAACAGGCTCCTGCTGGCTCCTGTCCTCTGGCATGTGCTTCAGGCGCCAGACAGGGGCTCTTTCTCTCTGTGTCTTGGATCCCAGGGTGGCCCAGCCTGCTCAGCATCTGTTGGGTGTAGCCGCCTGGGAAATGGACTTCAGCCTTACAAAGAGCAAGACAGTGGGTCTCGCCCAGCGTCCTGGACCATGGCTAGCAGTGGAGGAGGAAGGCTCTGTTTGAGAAGATGGTGAGTCCCAGACCTGTTGATCCCACCCGTCAAGAGGGTTACACCCAAAGCCTTGTGCATCCGACACATACCTATGGAGCACTGACCATACGCCAGGCACTGAACCAGGCACTGGAGAACAATGTGAACACAGCCATTGCTGCTATCCTCAGACTGCGGGGAGGTGGCAGTCAAAATAAACAGAATACTGGCAGATCGTGACAGTGCTGTGAGGGAACGATGACAGAGACACCAGGTGTGTGTGCACATGCGCAGGAGGGGATCTAGGGAAGCCACTGGAGACAAGCTCACCATGCTTCTGCCTTCTATACTAGTCCCCCGTGCCTGGAATGTTCCTCCCTAGGTGTGCACGTGGCTCCTTCTCTCACCTCTAGTTCTTCATTCAGGTTCTCTCCTCTGCAGGCTCTCCCTGGGCCACCCTACCTCAAAATGCAAACCCTGCCCCAGCAGTTCCTCCCTGCGTTACTTTTCCCTGAGGACTTTTCACTCTCTAATGTACTGGATATTTTACCTATTTATCTACAGATCGTCTATCCCTCCCACTAGAATGTAATCTCCATTTTTAACTTTTTATTTGGAAATAGTTTCAAACTCACACAAACATATAGGAATAAAAATAGTTCATAGAATTATTAACTAATAAAACCCTTCTCTCTCTCACACACAATTTTTTGTGACCCATTTGAGGGTAAATTACTCATCACAGCCCTTCACTCCTAAATACTTCAGGGCATATTTCCTAAGAATAGAGATCTTCTCTTACATAACCACAGTACATTATCAATGTCAG
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AGCCACCACGCCCAGCCTATTTTATTTTTTGAGACAGAGTCTTGCTGTTTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGATTCACTGCAACCTCTGCCTTCTGAGTTCAAGCAATTCTTGTGCCTCAGTTTCCCGAGTAGGTGGGATTACAGGTGCATACCACCATGCCCATCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCTTCCCAAAGTGATAGGATTACAGGTGTAAGCCACTGCACCTGGCCGTCAAAGGTAGTTTTAGCCCAGTGTGGGGATCCCAAGACTGCCCATAAAGACACGTGGACCAGTGCATACTGAGTGGTGGTAAGGGCTGATGGGCCAGGTGGGAGCAAAGGCTCGGGAAGGCAGCACTTCCCTGAGGAAGCTTCCTGAAACAATGGAGCTGCTAGGGCTTGGGCCATTGGTGCTTTCTTTCTCCTTCAGCAGGATGGCTGGTTACCCTCTCTTGGATGAGTGATGGTCCACCAGAGAGTGTGTGCACGGCTAGCGGGTGTCAGTACCCTATGCCCTGGTATCCTGTGTCAGTCATAACTGACTCCAAAGCTTCCTCCACAGTCTAGGGCTGTTCTCCTCTGCAGTAAGATGCAGAGGAGAAAGGCTGTTTACCTTTCAGCTCCAGAAAACTCACCATCCCTCCACACAGGGAACACTCCCCTCTCACCCCCTCTATCATGGAGATATTAAGGAGCTGGAGGGAAAGGAATAGGAGACTTCCCTTTCTCCAGCAGTTGGACACAGGAAGTTGCTGACACAGGTCTGGTGACCTGACATGCTGCTATTTCTATAGATATCTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAAGTGTTTGTTAAATAAATGAGTAATTGTAACTCTGCTCTTTTCTAGGTTATAAAGCATATCAGAACGTGAATGAGCACGGCAATATGCTGATAATCTTAAACTGTTAGCTTTGGCATGCAAACTCTTAATAATAAGGAATTATCTACAATAGTTTACAATGTGTGGGTACAGGATAAGGATAATCCTATTCAAGATTACTGCCATTGTTGGTTTGTCATATAACATATGGTCTTTTTTCAAACTCAAAAGCATACAATATTCTAAAAACAAAGATGGGTCCTCAAGTCAGTTGGTCTCCTAACCATTCCTACATTGGAGTGGACTCTTAGTAAATAGGCCACAGGTCCCGGATCTGTTGAGATAAGTGGTGAAATATTGAGGCAGTGGTAGCAGCCCTCCCTCATCCCAGCCAGGCTCTGCATGCATCCTGATCAGATGCCCCATCCAGAGACTTGGGCGAGTCTTCGACCACAGGAAATTAGGCCAATATAGAGGAGTTTCTTATCAGCATGATGGCCTTCTCCATCTGCTGCTGGAGAATGAGGCCCAGCCACCACCTGCCTCTGCCCCAGGGGATGACGGAGCAGCAGGACTCTTCCAAGTGTCAATGGAGAACACAGGATCCAGGTGGATCCACAGAAGGCAACAAGGGGCACGCCCCACCATCTGCTTACTTGGACTTGAGATGCTGAATGGTGCCCATACATCGAAAGGCGCCCTTTACCATGATGGCCAGCCGGGTACACAGTGCCTCACATTCTTCCATGCTGTGGGGCAGGAGAGAGGAGGTGAGCAGGAGAGGATTCCCACCCACCTTCCCCAGCCCTGGGAATCTCTTGCCTGTGGGATGTGAGGACCACAGCCCTCCCTTCTCTGATGATGCTCACGATGACGTTCCACAGCATGCGGCGTGCCTGGGGTTCCATCCCTGTGGTGGGCTCATCCTGGGGGGTGGAGAGAAGGTTGGGGGCACAGGCTGGGAGCTGGCCCTTCTGATTACTGCTTCCCCCTGGGCTGGCTCCCCTGTGGAGGATGAGCTGACAGAAGGCGCACACAGTCACTCCCCTCACTTGAGCAAGACAGGGGTACCCTGGTGTAGGGTAGGGAAGGCAGGAGGTGGATCCAAGAGTAAAGAAGCGTGGCGTCCATCCTGGGCCCATTTCAGCCCACGAGGGGATTAAAGTGGATTAAGGCAATGACAGAATTCTCCTCAAAAAAAGAAAATCCTGCAAATACATTTGTCAGAAGGCAGGGAGGTCACTCAGGTCACTTCCTTGGTTCCCGCTATGTCCTGTGCCCTCATGATCCTTGGGCTGCGTGGGCATGGCCTCAGGCCTGGCCTGGCTCAGCTCAGGAGCCTTTGACCCAGCTCAGTGCTCCTGTATGGGGACCAGACACCGACAGGCCGCAGAGTGGGCTGAACTTCCCGGCTGTGAGCCGATGGCCCCACAGGAGACATCCTGGGAACGCAGGATGTGCGCAGTCCCAAGTCAAGGCTGTGCCGTGACTTGTTTTTCTCCGGAGCTGTGTGAACCAAACACTGGGCTGATCGCTCAAAATGAGCAACACAGGAAACAGTCCAGACTAAAGCCAAACTGCTGCAGTTTCTAAATCTGCCGACCCAGAACCTATTTCCCCAACCCAAGAGACCCAGCACTTGGTTTAAGCCCTTGGTGCGGCCCAAGCCCGCAGTTACCAGCAGCACCAGCGGTGGGCAGCCAATGAGTGCGATGGCTGTGGAGAGTTTCCGCTTGTTGCCCCCACTGTACGTGCCAGCCAGGCAGTCGGCGTAGACAGTCAGGCCCAGGCTCTTAATACTCCAGTTTGCAACCTAGGGAAGAGAAAGAAATGCCATTTGGAGAAGACAAGCAAACACCCCAAACCTCCCCCAGTTCAAAGCCTTGGGCTCCCAGATCTCACGCCTCCAGAATGAAATCCCCAGCTAGGCTGAAACAGGCTCCTGCTGGCTCCTGTCCTCTGGCATGTGCTTCAGGCGCCAGACAGGGGCTCTTTCTCTCTGTGTCTTGGATCCCAGGGTGGCCCAGCCTGCTCAGCATCTGTTGGGTGTAGCCGCCTGGGAAATGGACTTCAGCCTTACAAAGAGCAAGACAGTGGGTCTCGCCCAGCGTCCTGGACCATGGCTAGCAGTGGAGGAGGAAGGCTCTGTTTGAGAAGATGGTGAGTCCCAGACCTGTTGATCCCACCCGTCAAGAGGGTTACACCCAAAGCCTTGTGCATCCGACACATACCTATGGAGCACTGACCATACGCCAGGCACTGAACCAGGCACTGGAGAACAATGTGAACACAGCCATTGCTGCTATCCTCAGACTGCGGGGAGGTGGCAGTCAAAATAAACAGAATACTGGCAGATCGTGACAGTGCTGTGAGGGAACGATGACAGAGACACCAGGTGTGTGTGCACATGCGCAGGAGGGGATCTAGGGAAGCCACTGGAGACAAGCTCACCATGCTTCTGCCTTCTATACTAGTCCCCCGTGCCTGGAATGTTCCTCCCTAGGTGTGCACGTGGCTCCTTCTCTCACCTCTAGTTCTTCATTCAGGTTCTCTCCTCTGCAGGCTCTCCCTGGGCCACCCTACCTCAAAATGCAAACCCTGCCCCAGCAGTTCCTCCCTGCGTTACTTTTCCCTGAGGACTTTTCACTCTCTAATGTACTGGATATTTTACCTATTTATCTACAGATCGTCTATCCCTCCCACTAGAATGTAATCTCCATTTTTAACTTTTTATTTGGAAATAGTTTCAAACTCACACAAACATATAGGAATAAAAATAGTTCATAGAATTATTAACTAATAAAACCCTTCTCTCTCTCACACACAATTTTTTGTGACCCATTTGAGGGTAAATTACTCATCACAGCCCTTCACTCCTAAATACTTCAGGGCATATTTCCTAAGAATAGAGATCTTCTCTTACATAACCACAGTACATTATCAATGTCAG
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Task1_train_1110
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A sequence alteration has been identified in ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Is it disease-inducing or harmless?
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Pathogenic; not provided
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TATTTTATTTTTTGAGACAGAGTCTTGCTGTTTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGATTCACTGCAACCTCTGCCTTCTGAGTTCAAGCAATTCTTGTGCCTCAGTTTCCCGAGTAGGTGGGATTACAGGTGCATACCACCATGCCCATCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCTTCCCAAAGTGATAGGATTACAGGTGTAAGCCACTGCACCTGGCCGTCAAAGGTAGTTTTAGCCCAGTGTGGGGATCCCAAGACTGCCCATAAAGACACGTGGACCAGTGCATACTGAGTGGTGGTAAGGGCTGATGGGCCAGGTGGGAGCAAAGGCTCGGGAAGGCAGCACTTCCCTGAGGAAGCTTCCTGAAACAATGGAGCTGCTAGGGCTTGGGCCATTGGTGCTTTCTTTCTCCTTCAGCAGGATGGCTGGTTACCCTCTCTTGGATGAGTGATGGTCCACCAGAGAGTGTGTGCACGGCTAGCGGGTGTCAGTACCCTATGCCCTGGTATCCTGTGTCAGTCATAACTGACTCCAAAGCTTCCTCCACAGTCTAGGGCTGTTCTCCTCTGCAGTAAGATGCAGAGGAGAAAGGCTGTTTACCTTTCAGCTCCAGAAAACTCACCATCCCTCCACACAGGGAACACTCCCCTCTCACCCCCTCTATCATGGAGATATTAAGGAGCTGGAGGGAAAGGAATAGGAGACTTCCCTTTCTCCAGCAGTTGGACACAGGAAGTTGCTGACACAGGTCTGGTGACCTGACATGCTGCTATTTCTATAGATATCTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAAGTGTTTGTTAAATAAATGAGTAATTGTAACTCTGCTCTTTTCTAGGTTATAAAGCATATCAGAACGTGAATGAGCACGGCAATATGCTGATAATCTTAAACTGTTAGCTTTGGCATGCAAACTCTTAATAATAAGGAATTATCTACAATAGTTTACAATGTGTGGGTACAGGATAAGGATAATCCTATTCAAGATTACTGCCATTGTTGGTTTGTCATATAACATATGGTCTTTTTTCAAACTCAAAAGCATACAATATTCTAAAAACAAAGATGGGTCCTCAAGTCAGTTGGTCTCCTAACCATTCCTACATTGGAGTGGACTCTTAGTAAATAGGCCACAGGTCCCGGATCTGTTGAGATAAGTGGTGAAATATTGAGGCAGTGGTAGCAGCCCTCCCTCATCCCAGCCAGGCTCTGCATGCATCCTGATCAGATGCCCCATCCAGAGACTTGGGCGAGTCTTCGACCACAGGAAATTAGGCCAATATAGAGGAGTTTCTTATCAGCATGATGGCCTTCTCCATCTGCTGCTGGAGAATGAGGCCCAGCCACCACCTGCCTCTGCCCCAGGGGATGACGGAGCAGCAGGACTCTTCCAAGTGTCAATGGAGAACACAGGATCCAGGTGGATCCACAGAAGGCAACAAGGGGCACGCCCCACCATCTGCTTACTTGGACTTGAGATGCTGAATGGTGCCCATACATCGAAAGGCGCCCTTTACCATGATGGCCAGCCGGGTACACAGTGCCTCACATTCTTCCATGCTGTGGGGCAGGAGAGAGGAGGTGAGCAGGAGAGGATTCCCACCCACCTTCCCCAGCCCTGGGAATCTCTTGCCTGTGGGATGTGAGGACCACAGCCCTCCCTTCTCTGATGATGCTCACGATGACGTTCCACAGCATGCGGCGTGCCTGGGGGTCCATCCCTGTGGTGGGCTCATCCTGGGGGGTGGAGAGAAGGTTGGGGGCACAGGCTGGGAGCTGGCCCTTCTGATTACTGCTTCCCCCTGGGCTGGCTCCCCTGTGGAGGATGAGCTGACAGAAGGCGCACACAGTCACTCCCCTCACTTGAGCAAGACAGGGGTACCCTGGTGTAGGGTAGGGAAGGCAGGAGGTGGATCCAAGAGTAAAGAAGCGTGGCGTCCATCCTGGGCCCATTTCAGCCCACGAGGGGATTAAAGTGGATTAAGGCAATGACAGAATTCTCCTCAAAAAAAGAAAATCCTGCAAATACATTTGTCAGAAGGCAGGGAGGTCACTCAGGTCACTTCCTTGGTTCCCGCTATGTCCTGTGCCCTCATGATCCTTGGGCTGCGTGGGCATGGCCTCAGGCCTGGCCTGGCTCAGCTCAGGAGCCTTTGACCCAGCTCAGTGCTCCTGTATGGGGACCAGACACCGACAGGCCGCAGAGTGGGCTGAACTTCCCGGCTGTGAGCCGATGGCCCCACAGGAGACATCCTGGGAACGCAGGATGTGCGCAGTCCCAAGTCAAGGCTGTGCCGTGACTTGTTTTTCTCCGGAGCTGTGTGAACCAAACACTGGGCTGATCGCTCAAAATGAGCAACACAGGAAACAGTCCAGACTAAAGCCAAACTGCTGCAGTTTCTAAATCTGCCGACCCAGAACCTATTTCCCCAACCCAAGAGACCCAGCACTTGGTTTAAGCCCTTGGTGCGGCCCAAGCCCGCAGTTACCAGCAGCACCAGCGGTGGGCAGCCAATGAGTGCGATGGCTGTGGAGAGTTTCCGCTTGTTGCCCCCACTGTACGTGCCAGCCAGGCAGTCGGCGTAGACAGTCAGGCCCAGGCTCTTAATACTCCAGTTTGCAACCTAGGGAAGAGAAAGAAATGCCATTTGGAGAAGACAAGCAAACACCCCAAACCTCCCCCAGTTCAAAGCCTTGGGCTCCCAGATCTCACGCCTCCAGAATGAAATCCCCAGCTAGGCTGAAACAGGCTCCTGCTGGCTCCTGTCCTCTGGCATGTGCTTCAGGCGCCAGACAGGGGCTCTTTCTCTCTGTGTCTTGGATCCCAGGGTGGCCCAGCCTGCTCAGCATCTGTTGGGTGTAGCCGCCTGGGAAATGGACTTCAGCCTTACAAAGAGCAAGACAGTGGGTCTCGCCCAGCGTCCTGGACCATGGCTAGCAGTGGAGGAGGAAGGCTCTGTTTGAGAAGATGGTGAGTCCCAGACCTGTTGATCCCACCCGTCAAGAGGGTTACACCCAAAGCCTTGTGCATCCGACACATACCTATGGAGCACTGACCATACGCCAGGCACTGAACCAGGCACTGGAGAACAATGTGAACACAGCCATTGCTGCTATCCTCAGACTGCGGGGAGGTGGCAGTCAAAATAAACAGAATACTGGCAGATCGTGACAGTGCTGTGAGGGAACGATGACAGAGACACCAGGTGTGTGTGCACATGCGCAGGAGGGGATCTAGGGAAGCCACTGGAGACAAGCTCACCATGCTTCTGCCTTCTATACTAGTCCCCCGTGCCTGGAATGTTCCTCCCTAGGTGTGCACGTGGCTCCTTCTCTCACCTCTAGTTCTTCATTCAGGTTCTCTCCTCTGCAGGCTCTCCCTGGGCCACCCTACCTCAAAATGCAAACCCTGCCCCAGCAGTTCCTCCCTGCGTTACTTTTCCCTGAGGACTTTTCACTCTCTAATGTACTGGATATTTTACCTATTTATCTACAGATCGTCTATCCCTCCCACTAGAATGTAATCTCCATTTTTAACTTTTTATTTGGAAATAGTTTCAAACTCACACAAACATATAGGAATAAAAATAGTTCATAGAATTATTAACTAATAAAACCCTTCTCTCTCTCACACACAATTTTTTGTGACCCATTTGAGGGTAAATTACTCATCACAGCCCTTCACTCCTAAATACTTCAGGGCATATTTCCTAAGAATAGAGATCTTCTCTTACATAACCACAGTACATTATCAATGTCAGTAAACTTAATGTTATGA
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TATTTTATTTTTTGAGACAGAGTCTTGCTGTTTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGATTCACTGCAACCTCTGCCTTCTGAGTTCAAGCAATTCTTGTGCCTCAGTTTCCCGAGTAGGTGGGATTACAGGTGCATACCACCATGCCCATCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCTTCCCAAAGTGATAGGATTACAGGTGTAAGCCACTGCACCTGGCCGTCAAAGGTAGTTTTAGCCCAGTGTGGGGATCCCAAGACTGCCCATAAAGACACGTGGACCAGTGCATACTGAGTGGTGGTAAGGGCTGATGGGCCAGGTGGGAGCAAAGGCTCGGGAAGGCAGCACTTCCCTGAGGAAGCTTCCTGAAACAATGGAGCTGCTAGGGCTTGGGCCATTGGTGCTTTCTTTCTCCTTCAGCAGGATGGCTGGTTACCCTCTCTTGGATGAGTGATGGTCCACCAGAGAGTGTGTGCACGGCTAGCGGGTGTCAGTACCCTATGCCCTGGTATCCTGTGTCAGTCATAACTGACTCCAAAGCTTCCTCCACAGTCTAGGGCTGTTCTCCTCTGCAGTAAGATGCAGAGGAGAAAGGCTGTTTACCTTTCAGCTCCAGAAAACTCACCATCCCTCCACACAGGGAACACTCCCCTCTCACCCCCTCTATCATGGAGATATTAAGGAGCTGGAGGGAAAGGAATAGGAGACTTCCCTTTCTCCAGCAGTTGGACACAGGAAGTTGCTGACACAGGTCTGGTGACCTGACATGCTGCTATTTCTATAGATATCTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAAGTGTTTGTTAAATAAATGAGTAATTGTAACTCTGCTCTTTTCTAGGTTATAAAGCATATCAGAACGTGAATGAGCACGGCAATATGCTGATAATCTTAAACTGTTAGCTTTGGCATGCAAACTCTTAATAATAAGGAATTATCTACAATAGTTTACAATGTGTGGGTACAGGATAAGGATAATCCTATTCAAGATTACTGCCATTGTTGGTTTGTCATATAACATATGGTCTTTTTTCAAACTCAAAAGCATACAATATTCTAAAAACAAAGATGGGTCCTCAAGTCAGTTGGTCTCCTAACCATTCCTACATTGGAGTGGACTCTTAGTAAATAGGCCACAGGTCCCGGATCTGTTGAGATAAGTGGTGAAATATTGAGGCAGTGGTAGCAGCCCTCCCTCATCCCAGCCAGGCTCTGCATGCATCCTGATCAGATGCCCCATCCAGAGACTTGGGCGAGTCTTCGACCACAGGAAATTAGGCCAATATAGAGGAGTTTCTTATCAGCATGATGGCCTTCTCCATCTGCTGCTGGAGAATGAGGCCCAGCCACCACCTGCCTCTGCCCCAGGGGATGACGGAGCAGCAGGACTCTTCCAAGTGTCAATGGAGAACACAGGATCCAGGTGGATCCACAGAAGGCAACAAGGGGCACGCCCCACCATCTGCTTACTTGGACTTGAGATGCTGAATGGTGCCCATACATCGAAAGGCGCCCTTTACCATGATGGCCAGCCGGGTACACAGTGCCTCACATTCTTCCATGCTGTGGGGCAGGAGAGAGGAGGTGAGCAGGAGAGGATTCCCACCCACCTTCCCCAGCCCTGGGAATCTCTTGCCTGTGGGATGTGAGGACCACAGCCCTCCCTTCTCTGATGATGCTCACGATGACGTTCCACAGCATGCGGCGTGCCTGGGGGTCCATCCCTGTGGTGGACTCATCCTGGGGGGTGGAGAGAAGGTTGGGGGCACAGGCTGGGAGCTGGCCCTTCTGATTACTGCTTCCCCCTGGGCTGGCTCCCCTGTGGAGGATGAGCTGACAGAAGGCGCACACAGTCACTCCCCTCACTTGAGCAAGACAGGGGTACCCTGGTGTAGGGTAGGGAAGGCAGGAGGTGGATCCAAGAGTAAAGAAGCGTGGCGTCCATCCTGGGCCCATTTCAGCCCACGAGGGGATTAAAGTGGATTAAGGCAATGACAGAATTCTCCTCAAAAAAAGAAAATCCTGCAAATACATTTGTCAGAAGGCAGGGAGGTCACTCAGGTCACTTCCTTGGTTCCCGCTATGTCCTGTGCCCTCATGATCCTTGGGCTGCGTGGGCATGGCCTCAGGCCTGGCCTGGCTCAGCTCAGGAGCCTTTGACCCAGCTCAGTGCTCCTGTATGGGGACCAGACACCGACAGGCCGCAGAGTGGGCTGAACTTCCCGGCTGTGAGCCGATGGCCCCACAGGAGACATCCTGGGAACGCAGGATGTGCGCAGTCCCAAGTCAAGGCTGTGCCGTGACTTGTTTTTCTCCGGAGCTGTGTGAACCAAACACTGGGCTGATCGCTCAAAATGAGCAACACAGGAAACAGTCCAGACTAAAGCCAAACTGCTGCAGTTTCTAAATCTGCCGACCCAGAACCTATTTCCCCAACCCAAGAGACCCAGCACTTGGTTTAAGCCCTTGGTGCGGCCCAAGCCCGCAGTTACCAGCAGCACCAGCGGTGGGCAGCCAATGAGTGCGATGGCTGTGGAGAGTTTCCGCTTGTTGCCCCCACTGTACGTGCCAGCCAGGCAGTCGGCGTAGACAGTCAGGCCCAGGCTCTTAATACTCCAGTTTGCAACCTAGGGAAGAGAAAGAAATGCCATTTGGAGAAGACAAGCAAACACCCCAAACCTCCCCCAGTTCAAAGCCTTGGGCTCCCAGATCTCACGCCTCCAGAATGAAATCCCCAGCTAGGCTGAAACAGGCTCCTGCTGGCTCCTGTCCTCTGGCATGTGCTTCAGGCGCCAGACAGGGGCTCTTTCTCTCTGTGTCTTGGATCCCAGGGTGGCCCAGCCTGCTCAGCATCTGTTGGGTGTAGCCGCCTGGGAAATGGACTTCAGCCTTACAAAGAGCAAGACAGTGGGTCTCGCCCAGCGTCCTGGACCATGGCTAGCAGTGGAGGAGGAAGGCTCTGTTTGAGAAGATGGTGAGTCCCAGACCTGTTGATCCCACCCGTCAAGAGGGTTACACCCAAAGCCTTGTGCATCCGACACATACCTATGGAGCACTGACCATACGCCAGGCACTGAACCAGGCACTGGAGAACAATGTGAACACAGCCATTGCTGCTATCCTCAGACTGCGGGGAGGTGGCAGTCAAAATAAACAGAATACTGGCAGATCGTGACAGTGCTGTGAGGGAACGATGACAGAGACACCAGGTGTGTGTGCACATGCGCAGGAGGGGATCTAGGGAAGCCACTGGAGACAAGCTCACCATGCTTCTGCCTTCTATACTAGTCCCCCGTGCCTGGAATGTTCCTCCCTAGGTGTGCACGTGGCTCCTTCTCTCACCTCTAGTTCTTCATTCAGGTTCTCTCCTCTGCAGGCTCTCCCTGGGCCACCCTACCTCAAAATGCAAACCCTGCCCCAGCAGTTCCTCCCTGCGTTACTTTTCCCTGAGGACTTTTCACTCTCTAATGTACTGGATATTTTACCTATTTATCTACAGATCGTCTATCCCTCCCACTAGAATGTAATCTCCATTTTTAACTTTTTATTTGGAAATAGTTTCAAACTCACACAAACATATAGGAATAAAAATAGTTCATAGAATTATTAACTAATAAAACCCTTCTCTCTCTCACACACAATTTTTTGTGACCCATTTGAGGGTAAATTACTCATCACAGCCCTTCACTCCTAAATACTTCAGGGCATATTTCCTAAGAATAGAGATCTTCTCTTACATAACCACAGTACATTATCAATGTCAGTAAACTTAATGTTATGA
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Task1_train_1111
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The gene ABCA4 (ATP binding cassette subfamily A member 4) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Retinal dystrophy
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TTTTATTTTTTGAGACAGAGTCTTGCTGTTTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGATTCACTGCAACCTCTGCCTTCTGAGTTCAAGCAATTCTTGTGCCTCAGTTTCCCGAGTAGGTGGGATTACAGGTGCATACCACCATGCCCATCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCTTCCCAAAGTGATAGGATTACAGGTGTAAGCCACTGCACCTGGCCGTCAAAGGTAGTTTTAGCCCAGTGTGGGGATCCCAAGACTGCCCATAAAGACACGTGGACCAGTGCATACTGAGTGGTGGTAAGGGCTGATGGGCCAGGTGGGAGCAAAGGCTCGGGAAGGCAGCACTTCCCTGAGGAAGCTTCCTGAAACAATGGAGCTGCTAGGGCTTGGGCCATTGGTGCTTTCTTTCTCCTTCAGCAGGATGGCTGGTTACCCTCTCTTGGATGAGTGATGGTCCACCAGAGAGTGTGTGCACGGCTAGCGGGTGTCAGTACCCTATGCCCTGGTATCCTGTGTCAGTCATAACTGACTCCAAAGCTTCCTCCACAGTCTAGGGCTGTTCTCCTCTGCAGTAAGATGCAGAGGAGAAAGGCTGTTTACCTTTCAGCTCCAGAAAACTCACCATCCCTCCACACAGGGAACACTCCCCTCTCACCCCCTCTATCATGGAGATATTAAGGAGCTGGAGGGAAAGGAATAGGAGACTTCCCTTTCTCCAGCAGTTGGACACAGGAAGTTGCTGACACAGGTCTGGTGACCTGACATGCTGCTATTTCTATAGATATCTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAAGTGTTTGTTAAATAAATGAGTAATTGTAACTCTGCTCTTTTCTAGGTTATAAAGCATATCAGAACGTGAATGAGCACGGCAATATGCTGATAATCTTAAACTGTTAGCTTTGGCATGCAAACTCTTAATAATAAGGAATTATCTACAATAGTTTACAATGTGTGGGTACAGGATAAGGATAATCCTATTCAAGATTACTGCCATTGTTGGTTTGTCATATAACATATGGTCTTTTTTCAAACTCAAAAGCATACAATATTCTAAAAACAAAGATGGGTCCTCAAGTCAGTTGGTCTCCTAACCATTCCTACATTGGAGTGGACTCTTAGTAAATAGGCCACAGGTCCCGGATCTGTTGAGATAAGTGGTGAAATATTGAGGCAGTGGTAGCAGCCCTCCCTCATCCCAGCCAGGCTCTGCATGCATCCTGATCAGATGCCCCATCCAGAGACTTGGGCGAGTCTTCGACCACAGGAAATTAGGCCAATATAGAGGAGTTTCTTATCAGCATGATGGCCTTCTCCATCTGCTGCTGGAGAATGAGGCCCAGCCACCACCTGCCTCTGCCCCAGGGGATGACGGAGCAGCAGGACTCTTCCAAGTGTCAATGGAGAACACAGGATCCAGGTGGATCCACAGAAGGCAACAAGGGGCACGCCCCACCATCTGCTTACTTGGACTTGAGATGCTGAATGGTGCCCATACATCGAAAGGCGCCCTTTACCATGATGGCCAGCCGGGTACACAGTGCCTCACATTCTTCCATGCTGTGGGGCAGGAGAGAGGAGGTGAGCAGGAGAGGATTCCCACCCACCTTCCCCAGCCCTGGGAATCTCTTGCCTGTGGGATGTGAGGACCACAGCCCTCCCTTCTCTGATGATGCTCACGATGACGTTCCACAGCATGCGGCGTGCCTGGGGGTCCATCCCTGTGGTGGGCTCATCCTGGGGGGTGGAGAGAAGGTTGGGGGCACAGGCTGGGAGCTGGCCCTTCTGATTACTGCTTCCCCCTGGGCTGGCTCCCCTGTGGAGGATGAGCTGACAGAAGGCGCACACAGTCACTCCCCTCACTTGAGCAAGACAGGGGTACCCTGGTGTAGGGTAGGGAAGGCAGGAGGTGGATCCAAGAGTAAAGAAGCGTGGCGTCCATCCTGGGCCCATTTCAGCCCACGAGGGGATTAAAGTGGATTAAGGCAATGACAGAATTCTCCTCAAAAAAAGAAAATCCTGCAAATACATTTGTCAGAAGGCAGGGAGGTCACTCAGGTCACTTCCTTGGTTCCCGCTATGTCCTGTGCCCTCATGATCCTTGGGCTGCGTGGGCATGGCCTCAGGCCTGGCCTGGCTCAGCTCAGGAGCCTTTGACCCAGCTCAGTGCTCCTGTATGGGGACCAGACACCGACAGGCCGCAGAGTGGGCTGAACTTCCCGGCTGTGAGCCGATGGCCCCACAGGAGACATCCTGGGAACGCAGGATGTGCGCAGTCCCAAGTCAAGGCTGTGCCGTGACTTGTTTTTCTCCGGAGCTGTGTGAACCAAACACTGGGCTGATCGCTCAAAATGAGCAACACAGGAAACAGTCCAGACTAAAGCCAAACTGCTGCAGTTTCTAAATCTGCCGACCCAGAACCTATTTCCCCAACCCAAGAGACCCAGCACTTGGTTTAAGCCCTTGGTGCGGCCCAAGCCCGCAGTTACCAGCAGCACCAGCGGTGGGCAGCCAATGAGTGCGATGGCTGTGGAGAGTTTCCGCTTGTTGCCCCCACTGTACGTGCCAGCCAGGCAGTCGGCGTAGACAGTCAGGCCCAGGCTCTTAATACTCCAGTTTGCAACCTAGGGAAGAGAAAGAAATGCCATTTGGAGAAGACAAGCAAACACCCCAAACCTCCCCCAGTTCAAAGCCTTGGGCTCCCAGATCTCACGCCTCCAGAATGAAATCCCCAGCTAGGCTGAAACAGGCTCCTGCTGGCTCCTGTCCTCTGGCATGTGCTTCAGGCGCCAGACAGGGGCTCTTTCTCTCTGTGTCTTGGATCCCAGGGTGGCCCAGCCTGCTCAGCATCTGTTGGGTGTAGCCGCCTGGGAAATGGACTTCAGCCTTACAAAGAGCAAGACAGTGGGTCTCGCCCAGCGTCCTGGACCATGGCTAGCAGTGGAGGAGGAAGGCTCTGTTTGAGAAGATGGTGAGTCCCAGACCTGTTGATCCCACCCGTCAAGAGGGTTACACCCAAAGCCTTGTGCATCCGACACATACCTATGGAGCACTGACCATACGCCAGGCACTGAACCAGGCACTGGAGAACAATGTGAACACAGCCATTGCTGCTATCCTCAGACTGCGGGGAGGTGGCAGTCAAAATAAACAGAATACTGGCAGATCGTGACAGTGCTGTGAGGGAACGATGACAGAGACACCAGGTGTGTGTGCACATGCGCAGGAGGGGATCTAGGGAAGCCACTGGAGACAAGCTCACCATGCTTCTGCCTTCTATACTAGTCCCCCGTGCCTGGAATGTTCCTCCCTAGGTGTGCACGTGGCTCCTTCTCTCACCTCTAGTTCTTCATTCAGGTTCTCTCCTCTGCAGGCTCTCCCTGGGCCACCCTACCTCAAAATGCAAACCCTGCCCCAGCAGTTCCTCCCTGCGTTACTTTTCCCTGAGGACTTTTCACTCTCTAATGTACTGGATATTTTACCTATTTATCTACAGATCGTCTATCCCTCCCACTAGAATGTAATCTCCATTTTTAACTTTTTATTTGGAAATAGTTTCAAACTCACACAAACATATAGGAATAAAAATAGTTCATAGAATTATTAACTAATAAAACCCTTCTCTCTCTCACACACAATTTTTTGTGACCCATTTGAGGGTAAATTACTCATCACAGCCCTTCACTCCTAAATACTTCAGGGCATATTTCCTAAGAATAGAGATCTTCTCTTACATAACCACAGTACATTATCAATGTCAGTAAACTTAATGTTATGATA
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TTTTATTTTTTGAGACAGAGTCTTGCTGTTTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGATTCACTGCAACCTCTGCCTTCTGAGTTCAAGCAATTCTTGTGCCTCAGTTTCCCGAGTAGGTGGGATTACAGGTGCATACCACCATGCCCATCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCTTCCCAAAGTGATAGGATTACAGGTGTAAGCCACTGCACCTGGCCGTCAAAGGTAGTTTTAGCCCAGTGTGGGGATCCCAAGACTGCCCATAAAGACACGTGGACCAGTGCATACTGAGTGGTGGTAAGGGCTGATGGGCCAGGTGGGAGCAAAGGCTCGGGAAGGCAGCACTTCCCTGAGGAAGCTTCCTGAAACAATGGAGCTGCTAGGGCTTGGGCCATTGGTGCTTTCTTTCTCCTTCAGCAGGATGGCTGGTTACCCTCTCTTGGATGAGTGATGGTCCACCAGAGAGTGTGTGCACGGCTAGCGGGTGTCAGTACCCTATGCCCTGGTATCCTGTGTCAGTCATAACTGACTCCAAAGCTTCCTCCACAGTCTAGGGCTGTTCTCCTCTGCAGTAAGATGCAGAGGAGAAAGGCTGTTTACCTTTCAGCTCCAGAAAACTCACCATCCCTCCACACAGGGAACACTCCCCTCTCACCCCCTCTATCATGGAGATATTAAGGAGCTGGAGGGAAAGGAATAGGAGACTTCCCTTTCTCCAGCAGTTGGACACAGGAAGTTGCTGACACAGGTCTGGTGACCTGACATGCTGCTATTTCTATAGATATCTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAAGTGTTTGTTAAATAAATGAGTAATTGTAACTCTGCTCTTTTCTAGGTTATAAAGCATATCAGAACGTGAATGAGCACGGCAATATGCTGATAATCTTAAACTGTTAGCTTTGGCATGCAAACTCTTAATAATAAGGAATTATCTACAATAGTTTACAATGTGTGGGTACAGGATAAGGATAATCCTATTCAAGATTACTGCCATTGTTGGTTTGTCATATAACATATGGTCTTTTTTCAAACTCAAAAGCATACAATATTCTAAAAACAAAGATGGGTCCTCAAGTCAGTTGGTCTCCTAACCATTCCTACATTGGAGTGGACTCTTAGTAAATAGGCCACAGGTCCCGGATCTGTTGAGATAAGTGGTGAAATATTGAGGCAGTGGTAGCAGCCCTCCCTCATCCCAGCCAGGCTCTGCATGCATCCTGATCAGATGCCCCATCCAGAGACTTGGGCGAGTCTTCGACCACAGGAAATTAGGCCAATATAGAGGAGTTTCTTATCAGCATGATGGCCTTCTCCATCTGCTGCTGGAGAATGAGGCCCAGCCACCACCTGCCTCTGCCCCAGGGGATGACGGAGCAGCAGGACTCTTCCAAGTGTCAATGGAGAACACAGGATCCAGGTGGATCCACAGAAGGCAACAAGGGGCACGCCCCACCATCTGCTTACTTGGACTTGAGATGCTGAATGGTGCCCATACATCGAAAGGCGCCCTTTACCATGATGGCCAGCCGGGTACACAGTGCCTCACATTCTTCCATGCTGTGGGGCAGGAGAGAGGAGGTGAGCAGGAGAGGATTCCCACCCACCTTCCCCAGCCCTGGGAATCTCTTGCCTGTGGGATGTGAGGACCACAGCCCTCCCTTCTCTGATGATGCTCACGATGACGTTCCACAGCATGCGGCGTGCCTGGGGGTCCATCCCTGTGGTGGGCCCATCCTGGGGGGTGGAGAGAAGGTTGGGGGCACAGGCTGGGAGCTGGCCCTTCTGATTACTGCTTCCCCCTGGGCTGGCTCCCCTGTGGAGGATGAGCTGACAGAAGGCGCACACAGTCACTCCCCTCACTTGAGCAAGACAGGGGTACCCTGGTGTAGGGTAGGGAAGGCAGGAGGTGGATCCAAGAGTAAAGAAGCGTGGCGTCCATCCTGGGCCCATTTCAGCCCACGAGGGGATTAAAGTGGATTAAGGCAATGACAGAATTCTCCTCAAAAAAAGAAAATCCTGCAAATACATTTGTCAGAAGGCAGGGAGGTCACTCAGGTCACTTCCTTGGTTCCCGCTATGTCCTGTGCCCTCATGATCCTTGGGCTGCGTGGGCATGGCCTCAGGCCTGGCCTGGCTCAGCTCAGGAGCCTTTGACCCAGCTCAGTGCTCCTGTATGGGGACCAGACACCGACAGGCCGCAGAGTGGGCTGAACTTCCCGGCTGTGAGCCGATGGCCCCACAGGAGACATCCTGGGAACGCAGGATGTGCGCAGTCCCAAGTCAAGGCTGTGCCGTGACTTGTTTTTCTCCGGAGCTGTGTGAACCAAACACTGGGCTGATCGCTCAAAATGAGCAACACAGGAAACAGTCCAGACTAAAGCCAAACTGCTGCAGTTTCTAAATCTGCCGACCCAGAACCTATTTCCCCAACCCAAGAGACCCAGCACTTGGTTTAAGCCCTTGGTGCGGCCCAAGCCCGCAGTTACCAGCAGCACCAGCGGTGGGCAGCCAATGAGTGCGATGGCTGTGGAGAGTTTCCGCTTGTTGCCCCCACTGTACGTGCCAGCCAGGCAGTCGGCGTAGACAGTCAGGCCCAGGCTCTTAATACTCCAGTTTGCAACCTAGGGAAGAGAAAGAAATGCCATTTGGAGAAGACAAGCAAACACCCCAAACCTCCCCCAGTTCAAAGCCTTGGGCTCCCAGATCTCACGCCTCCAGAATGAAATCCCCAGCTAGGCTGAAACAGGCTCCTGCTGGCTCCTGTCCTCTGGCATGTGCTTCAGGCGCCAGACAGGGGCTCTTTCTCTCTGTGTCTTGGATCCCAGGGTGGCCCAGCCTGCTCAGCATCTGTTGGGTGTAGCCGCCTGGGAAATGGACTTCAGCCTTACAAAGAGCAAGACAGTGGGTCTCGCCCAGCGTCCTGGACCATGGCTAGCAGTGGAGGAGGAAGGCTCTGTTTGAGAAGATGGTGAGTCCCAGACCTGTTGATCCCACCCGTCAAGAGGGTTACACCCAAAGCCTTGTGCATCCGACACATACCTATGGAGCACTGACCATACGCCAGGCACTGAACCAGGCACTGGAGAACAATGTGAACACAGCCATTGCTGCTATCCTCAGACTGCGGGGAGGTGGCAGTCAAAATAAACAGAATACTGGCAGATCGTGACAGTGCTGTGAGGGAACGATGACAGAGACACCAGGTGTGTGTGCACATGCGCAGGAGGGGATCTAGGGAAGCCACTGGAGACAAGCTCACCATGCTTCTGCCTTCTATACTAGTCCCCCGTGCCTGGAATGTTCCTCCCTAGGTGTGCACGTGGCTCCTTCTCTCACCTCTAGTTCTTCATTCAGGTTCTCTCCTCTGCAGGCTCTCCCTGGGCCACCCTACCTCAAAATGCAAACCCTGCCCCAGCAGTTCCTCCCTGCGTTACTTTTCCCTGAGGACTTTTCACTCTCTAATGTACTGGATATTTTACCTATTTATCTACAGATCGTCTATCCCTCCCACTAGAATGTAATCTCCATTTTTAACTTTTTATTTGGAAATAGTTTCAAACTCACACAAACATATAGGAATAAAAATAGTTCATAGAATTATTAACTAATAAAACCCTTCTCTCTCTCACACACAATTTTTTGTGACCCATTTGAGGGTAAATTACTCATCACAGCCCTTCACTCCTAAATACTTCAGGGCATATTTCCTAAGAATAGAGATCTTCTCTTACATAACCACAGTACATTATCAATGTCAGTAAACTTAATGTTATGATA
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Task1_train_1112
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A variant found in Chromosome 1 affects ABCA4 (ATP binding cassette subfamily A member 4). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; not provided
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TCCAGCAGTTGGACACAGGAAGTTGCTGACACAGGTCTGGTGACCTGACATGCTGCTATTTCTATAGATATCTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAAGTGTTTGTTAAATAAATGAGTAATTGTAACTCTGCTCTTTTCTAGGTTATAAAGCATATCAGAACGTGAATGAGCACGGCAATATGCTGATAATCTTAAACTGTTAGCTTTGGCATGCAAACTCTTAATAATAAGGAATTATCTACAATAGTTTACAATGTGTGGGTACAGGATAAGGATAATCCTATTCAAGATTACTGCCATTGTTGGTTTGTCATATAACATATGGTCTTTTTTCAAACTCAAAAGCATACAATATTCTAAAAACAAAGATGGGTCCTCAAGTCAGTTGGTCTCCTAACCATTCCTACATTGGAGTGGACTCTTAGTAAATAGGCCACAGGTCCCGGATCTGTTGAGATAAGTGGTGAAATATTGAGGCAGTGGTAGCAGCCCTCCCTCATCCCAGCCAGGCTCTGCATGCATCCTGATCAGATGCCCCATCCAGAGACTTGGGCGAGTCTTCGACCACAGGAAATTAGGCCAATATAGAGGAGTTTCTTATCAGCATGATGGCCTTCTCCATCTGCTGCTGGAGAATGAGGCCCAGCCACCACCTGCCTCTGCCCCAGGGGATGACGGAGCAGCAGGACTCTTCCAAGTGTCAATGGAGAACACAGGATCCAGGTGGATCCACAGAAGGCAACAAGGGGCACGCCCCACCATCTGCTTACTTGGACTTGAGATGCTGAATGGTGCCCATACATCGAAAGGCGCCCTTTACCATGATGGCCAGCCGGGTACACAGTGCCTCACATTCTTCCATGCTGTGGGGCAGGAGAGAGGAGGTGAGCAGGAGAGGATTCCCACCCACCTTCCCCAGCCCTGGGAATCTCTTGCCTGTGGGATGTGAGGACCACAGCCCTCCCTTCTCTGATGATGCTCACGATGACGTTCCACAGCATGCGGCGTGCCTGGGGGTCCATCCCTGTGGTGGGCTCATCCTGGGGGGTGGAGAGAAGGTTGGGGGCACAGGCTGGGAGCTGGCCCTTCTGATTACTGCTTCCCCCTGGGCTGGCTCCCCTGTGGAGGATGAGCTGACAGAAGGCGCACACAGTCACTCCCCTCACTTGAGCAAGACAGGGGTACCCTGGTGTAGGGTAGGGAAGGCAGGAGGTGGATCCAAGAGTAAAGAAGCGTGGCGTCCATCCTGGGCCCATTTCAGCCCACGAGGGGATTAAAGTGGATTAAGGCAATGACAGAATTCTCCTCAAAAAAAGAAAATCCTGCAAATACATTTGTCAGAAGGCAGGGAGGTCACTCAGGTCACTTCCTTGGTTCCCGCTATGTCCTGTGCCCTCATGATCCTTGGGCTGCGTGGGCATGGCCTCAGGCCTGGCCTGGCTCAGCTCAGGAGCCTTTGACCCAGCTCAGTGCTCCTGTATGGGGACCAGACACCGACAGGCCGCAGAGTGGGCTGAACTTCCCGGCTGTGAGCCGATGGCCCCACAGGAGACATCCTGGGAACGCAGGATGTGCGCAGTCCCAAGTCAAGGCTGTGCCGTGACTTGTTTTTCTCCGGAGCTGTGTGAACCAAACACTGGGCTGATCGCTCAAAATGAGCAACACAGGAAACAGTCCAGACTAAAGCCAAACTGCTGCAGTTTCTAAATCTGCCGACCCAGAACCTATTTCCCCAACCCAAGAGACCCAGCACTTGGTTTAAGCCCTTGGTGCGGCCCAAGCCCGCAGTTACCAGCAGCACCAGCGGTGGGCAGCCAATGAGTGCGATGGCTGTGGAGAGTTTCCGCTTGTTGCCCCCACTGTACGTGCCAGCCAGGCAGTCGGCGTAGACAGTCAGGCCCAGGCTCTTAATACTCCAGTTTGCAACCTAGGGAAGAGAAAGAAATGCCATTTGGAGAAGACAAGCAAACACCCCAAACCTCCCCCAGTTCAAAGCCTTGGGCTCCCAGATCTCACGCCTCCAGAATGAAATCCCCAGCTAGGCTGAAACAGGCTCCTGCTGGCTCCTGTCCTCTGGCATGTGCTTCAGGCGCCAGACAGGGGCTCTTTCTCTCTGTGTCTTGGATCCCAGGGTGGCCCAGCCTGCTCAGCATCTGTTGGGTGTAGCCGCCTGGGAAATGGACTTCAGCCTTACAAAGAGCAAGACAGTGGGTCTCGCCCAGCGTCCTGGACCATGGCTAGCAGTGGAGGAGGAAGGCTCTGTTTGAGAAGATGGTGAGTCCCAGACCTGTTGATCCCACCCGTCAAGAGGGTTACACCCAAAGCCTTGTGCATCCGACACATACCTATGGAGCACTGACCATACGCCAGGCACTGAACCAGGCACTGGAGAACAATGTGAACACAGCCATTGCTGCTATCCTCAGACTGCGGGGAGGTGGCAGTCAAAATAAACAGAATACTGGCAGATCGTGACAGTGCTGTGAGGGAACGATGACAGAGACACCAGGTGTGTGTGCACATGCGCAGGAGGGGATCTAGGGAAGCCACTGGAGACAAGCTCACCATGCTTCTGCCTTCTATACTAGTCCCCCGTGCCTGGAATGTTCCTCCCTAGGTGTGCACGTGGCTCCTTCTCTCACCTCTAGTTCTTCATTCAGGTTCTCTCCTCTGCAGGCTCTCCCTGGGCCACCCTACCTCAAAATGCAAACCCTGCCCCAGCAGTTCCTCCCTGCGTTACTTTTCCCTGAGGACTTTTCACTCTCTAATGTACTGGATATTTTACCTATTTATCTACAGATCGTCTATCCCTCCCACTAGAATGTAATCTCCATTTTTAACTTTTTATTTGGAAATAGTTTCAAACTCACACAAACATATAGGAATAAAAATAGTTCATAGAATTATTAACTAATAAAACCCTTCTCTCTCTCACACACAATTTTTTGTGACCCATTTGAGGGTAAATTACTCATCACAGCCCTTCACTCCTAAATACTTCAGGGCATATTTCCTAAGAATAGAGATCTTCTCTTACATAACCACAGTACATTATCAATGTCAGTAAACTTAATGTTATGATACATTTACCTAATCTACTGTTCATAGTTCAGTTTTGTCAGTTGGTCCAATAATATCCTTCTATCATTTTTTTTCTCTTCTGCACAAGATGTAGTCTATTGTCTGCTATTCAGTCATTATGCCTGTTTAGCCTCCTGCGATCAGAGATATTTCCATAGCTCTTTCTTTGTCTTTTATGACTCTTATGTTTTTGAAGAATACAGTCTCCTTTTTTTTTTTTTAAGGAATATTCCTTCTTTGGAGCTTGTCAGATGTTTCCTCATGATAAGATTCAGGTTACATATCTCCAATCTGGATTCTACATAAGTGAAATTGTGTCCTTCACAGGGTATCACATCTCGGGGCATGAGATGTCCATCTGCCCCTTATGGTTAATTTTGATCACCCAGTTAAGGTGCTGTCTAATTTCTCCATTGTAAAATTATTATGTTTCTCCCATGTAACCAATAAGCAATCTGTACAGAGTTACTTTTATTTCTTTAAAATTATATTATTATTATTTTAAGAGACAGAGTCTTGCTCTGTTTCCCAGGCTGGAGAGCAGTGGCTTGATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCATTCCTCCCACCTCAGCCACCTGAGTAGCTGGGACTATAGGCGTGCACCACCAGGCCCAGCTAATTTGTTTGCTAATTTTTTGTAGAGACAGGGTCTCCCTATGTTGCACAGGCTAATCTGGAACTCCTGGGCTCAAGCGATCTTCCTACCTTGGCCTCCCAAAGTGCTGCGATTACAGGTGTGAGCCACCATGCCCAGCC
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TCCAGCAGTTGGACACAGGAAGTTGCTGACACAGGTCTGGTGACCTGACATGCTGCTATTTCTATAGATATCTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAAGTGTTTGTTAAATAAATGAGTAATTGTAACTCTGCTCTTTTCTAGGTTATAAAGCATATCAGAACGTGAATGAGCACGGCAATATGCTGATAATCTTAAACTGTTAGCTTTGGCATGCAAACTCTTAATAATAAGGAATTATCTACAATAGTTTACAATGTGTGGGTACAGGATAAGGATAATCCTATTCAAGATTACTGCCATTGTTGGTTTGTCATATAACATATGGTCTTTTTTCAAACTCAAAAGCATACAATATTCTAAAAACAAAGATGGGTCCTCAAGTCAGTTGGTCTCCTAACCATTCCTACATTGGAGTGGACTCTTAGTAAATAGGCCACAGGTCCCGGATCTGTTGAGATAAGTGGTGAAATATTGAGGCAGTGGTAGCAGCCCTCCCTCATCCCAGCCAGGCTCTGCATGCATCCTGATCAGATGCCCCATCCAGAGACTTGGGCGAGTCTTCGACCACAGGAAATTAGGCCAATATAGAGGAGTTTCTTATCAGCATGATGGCCTTCTCCATCTGCTGCTGGAGAATGAGGCCCAGCCACCACCTGCCTCTGCCCCAGGGGATGACGGAGCAGCAGGACTCTTCCAAGTGTCAATGGAGAACACAGGATCCAGGTGGATCCACAGAAGGCAACAAGGGGCACGCCCCACCATCTGCTTACTTGGACTTGAGATGCTGAATGGTGCCCATACATCGAAAGGCGCCCTTTACCATGATGGCCAGCCGGGTACACAGTGCCTCACATTCTTCCATGCTGTGGGGCAGGAGAGAGGAGGTGAGCAGGAGAGGATTCCCACCCACCTTCCCCAGCCCTGGGAATCTCTTGCCTGTGGGATGTGAGGACCACAGCCCTCCCTTCTCTGATGATGCTCACGATGACGTTCCACAGCATGCGGCGTGCCTGGGGGTCCATCCCTGTGGTGGGCTCATCCTGGGGGGTGGAGAGAAGGTTGGGGGCACAGGCTGGGAGCTGGCCCTTCTGATTACTGCTTCCCCCTGGGCTGGCTCCCCTGTGGAGGATGAGCTGACAGAAGGCGCACACAGTCACTCCCCTCACTTGAGCAAGACAGGGGTACCCTGGTGTAGGGTAGGGAAGGCAGGAGGTGGATCCAAGAGTAAAGAAGCGTGGCGTCCATCCTGGGCCCATTTCAGCCCACGAGGGGATTAAAGTGGATTAAGGCAATGACAGAATTCTCCTCAAAAAAAGAAAATCCTGCAAATACATTTGTCAGAAGGCAGGGAGGTCACTCAGGTCACTTCCTTGGTTCCCGCTATGTCCTGTGCCCTCATGATCCTTGGGCTGCGTGGGCATGGCCTCAGGCCTGGCCTGGCTCAGCTCAGGAGCCTTTGACCCAGCTCAGTGCTCCTGTATGGGGACCAGACACCGACAGGCCGCAGAGTGGGCTGAACTTCCCGGCTGTGAGCCGATGGCCCCACAGGAGACATCCTGGGAACGCAGGATGTGCGCAGTCCCAAGTCAAGGCTGTGCCGTGACTTGTTTTTCTCCGGAGCTGTGTGAACCAAACACTGGGCTGATCGCTCAAAATGAGCAACACAGGAAACAGTCCAGACTAAAGCCAAACTGCTGCAGTTTCTAAATCTGCCGACCCAGAACCTATTTCCCCAACCCAAGAGACCCAGCACTTGGTTTAAGCCCTTGGTGCGGCCCAAGCCCGCAGTTACCAGCAGCACCAGCGGTGGGCAGCCAATGAGTGGGATGGCTGTGGAGAGTTTCCGCTTGTTGCCCCCACTGTACGTGCCAGCCAGGCAGTCGGCGTAGACAGTCAGGCCCAGGCTCTTAATACTCCAGTTTGCAACCTAGGGAAGAGAAAGAAATGCCATTTGGAGAAGACAAGCAAACACCCCAAACCTCCCCCAGTTCAAAGCCTTGGGCTCCCAGATCTCACGCCTCCAGAATGAAATCCCCAGCTAGGCTGAAACAGGCTCCTGCTGGCTCCTGTCCTCTGGCATGTGCTTCAGGCGCCAGACAGGGGCTCTTTCTCTCTGTGTCTTGGATCCCAGGGTGGCCCAGCCTGCTCAGCATCTGTTGGGTGTAGCCGCCTGGGAAATGGACTTCAGCCTTACAAAGAGCAAGACAGTGGGTCTCGCCCAGCGTCCTGGACCATGGCTAGCAGTGGAGGAGGAAGGCTCTGTTTGAGAAGATGGTGAGTCCCAGACCTGTTGATCCCACCCGTCAAGAGGGTTACACCCAAAGCCTTGTGCATCCGACACATACCTATGGAGCACTGACCATACGCCAGGCACTGAACCAGGCACTGGAGAACAATGTGAACACAGCCATTGCTGCTATCCTCAGACTGCGGGGAGGTGGCAGTCAAAATAAACAGAATACTGGCAGATCGTGACAGTGCTGTGAGGGAACGATGACAGAGACACCAGGTGTGTGTGCACATGCGCAGGAGGGGATCTAGGGAAGCCACTGGAGACAAGCTCACCATGCTTCTGCCTTCTATACTAGTCCCCCGTGCCTGGAATGTTCCTCCCTAGGTGTGCACGTGGCTCCTTCTCTCACCTCTAGTTCTTCATTCAGGTTCTCTCCTCTGCAGGCTCTCCCTGGGCCACCCTACCTCAAAATGCAAACCCTGCCCCAGCAGTTCCTCCCTGCGTTACTTTTCCCTGAGGACTTTTCACTCTCTAATGTACTGGATATTTTACCTATTTATCTACAGATCGTCTATCCCTCCCACTAGAATGTAATCTCCATTTTTAACTTTTTATTTGGAAATAGTTTCAAACTCACACAAACATATAGGAATAAAAATAGTTCATAGAATTATTAACTAATAAAACCCTTCTCTCTCTCACACACAATTTTTTGTGACCCATTTGAGGGTAAATTACTCATCACAGCCCTTCACTCCTAAATACTTCAGGGCATATTTCCTAAGAATAGAGATCTTCTCTTACATAACCACAGTACATTATCAATGTCAGTAAACTTAATGTTATGATACATTTACCTAATCTACTGTTCATAGTTCAGTTTTGTCAGTTGGTCCAATAATATCCTTCTATCATTTTTTTTCTCTTCTGCACAAGATGTAGTCTATTGTCTGCTATTCAGTCATTATGCCTGTTTAGCCTCCTGCGATCAGAGATATTTCCATAGCTCTTTCTTTGTCTTTTATGACTCTTATGTTTTTGAAGAATACAGTCTCCTTTTTTTTTTTTTAAGGAATATTCCTTCTTTGGAGCTTGTCAGATGTTTCCTCATGATAAGATTCAGGTTACATATCTCCAATCTGGATTCTACATAAGTGAAATTGTGTCCTTCACAGGGTATCACATCTCGGGGCATGAGATGTCCATCTGCCCCTTATGGTTAATTTTGATCACCCAGTTAAGGTGCTGTCTAATTTCTCCATTGTAAAATTATTATGTTTCTCCCATGTAACCAATAAGCAATCTGTACAGAGTTACTTTTATTTCTTTAAAATTATATTATTATTATTTTAAGAGACAGAGTCTTGCTCTGTTTCCCAGGCTGGAGAGCAGTGGCTTGATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCATTCCTCCCACCTCAGCCACCTGAGTAGCTGGGACTATAGGCGTGCACCACCAGGCCCAGCTAATTTGTTTGCTAATTTTTTGTAGAGACAGGGTCTCCCTATGTTGCACAGGCTAATCTGGAACTCCTGGGCTCAAGCGATCTTCCTACCTTGGCCTCCCAAAGTGCTGCGATTACAGGTGTGAGCCACCATGCCCAGCC
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Task1_train_1113
|
Mutation context: Chromosome 1, Gene ABCA4 (ATP binding cassette subfamily A member 4). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
|
Pathogenic; not provided
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CACAGGTCTGGTGACCTGACATGCTGCTATTTCTATAGATATCTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAAGTGTTTGTTAAATAAATGAGTAATTGTAACTCTGCTCTTTTCTAGGTTATAAAGCATATCAGAACGTGAATGAGCACGGCAATATGCTGATAATCTTAAACTGTTAGCTTTGGCATGCAAACTCTTAATAATAAGGAATTATCTACAATAGTTTACAATGTGTGGGTACAGGATAAGGATAATCCTATTCAAGATTACTGCCATTGTTGGTTTGTCATATAACATATGGTCTTTTTTCAAACTCAAAAGCATACAATATTCTAAAAACAAAGATGGGTCCTCAAGTCAGTTGGTCTCCTAACCATTCCTACATTGGAGTGGACTCTTAGTAAATAGGCCACAGGTCCCGGATCTGTTGAGATAAGTGGTGAAATATTGAGGCAGTGGTAGCAGCCCTCCCTCATCCCAGCCAGGCTCTGCATGCATCCTGATCAGATGCCCCATCCAGAGACTTGGGCGAGTCTTCGACCACAGGAAATTAGGCCAATATAGAGGAGTTTCTTATCAGCATGATGGCCTTCTCCATCTGCTGCTGGAGAATGAGGCCCAGCCACCACCTGCCTCTGCCCCAGGGGATGACGGAGCAGCAGGACTCTTCCAAGTGTCAATGGAGAACACAGGATCCAGGTGGATCCACAGAAGGCAACAAGGGGCACGCCCCACCATCTGCTTACTTGGACTTGAGATGCTGAATGGTGCCCATACATCGAAAGGCGCCCTTTACCATGATGGCCAGCCGGGTACACAGTGCCTCACATTCTTCCATGCTGTGGGGCAGGAGAGAGGAGGTGAGCAGGAGAGGATTCCCACCCACCTTCCCCAGCCCTGGGAATCTCTTGCCTGTGGGATGTGAGGACCACAGCCCTCCCTTCTCTGATGATGCTCACGATGACGTTCCACAGCATGCGGCGTGCCTGGGGGTCCATCCCTGTGGTGGGCTCATCCTGGGGGGTGGAGAGAAGGTTGGGGGCACAGGCTGGGAGCTGGCCCTTCTGATTACTGCTTCCCCCTGGGCTGGCTCCCCTGTGGAGGATGAGCTGACAGAAGGCGCACACAGTCACTCCCCTCACTTGAGCAAGACAGGGGTACCCTGGTGTAGGGTAGGGAAGGCAGGAGGTGGATCCAAGAGTAAAGAAGCGTGGCGTCCATCCTGGGCCCATTTCAGCCCACGAGGGGATTAAAGTGGATTAAGGCAATGACAGAATTCTCCTCAAAAAAAGAAAATCCTGCAAATACATTTGTCAGAAGGCAGGGAGGTCACTCAGGTCACTTCCTTGGTTCCCGCTATGTCCTGTGCCCTCATGATCCTTGGGCTGCGTGGGCATGGCCTCAGGCCTGGCCTGGCTCAGCTCAGGAGCCTTTGACCCAGCTCAGTGCTCCTGTATGGGGACCAGACACCGACAGGCCGCAGAGTGGGCTGAACTTCCCGGCTGTGAGCCGATGGCCCCACAGGAGACATCCTGGGAACGCAGGATGTGCGCAGTCCCAAGTCAAGGCTGTGCCGTGACTTGTTTTTCTCCGGAGCTGTGTGAACCAAACACTGGGCTGATCGCTCAAAATGAGCAACACAGGAAACAGTCCAGACTAAAGCCAAACTGCTGCAGTTTCTAAATCTGCCGACCCAGAACCTATTTCCCCAACCCAAGAGACCCAGCACTTGGTTTAAGCCCTTGGTGCGGCCCAAGCCCGCAGTTACCAGCAGCACCAGCGGTGGGCAGCCAATGAGTGCGATGGCTGTGGAGAGTTTCCGCTTGTTGCCCCCACTGTACGTGCCAGCCAGGCAGTCGGCGTAGACAGTCAGGCCCAGGCTCTTAATACTCCAGTTTGCAACCTAGGGAAGAGAAAGAAATGCCATTTGGAGAAGACAAGCAAACACCCCAAACCTCCCCCAGTTCAAAGCCTTGGGCTCCCAGATCTCACGCCTCCAGAATGAAATCCCCAGCTAGGCTGAAACAGGCTCCTGCTGGCTCCTGTCCTCTGGCATGTGCTTCAGGCGCCAGACAGGGGCTCTTTCTCTCTGTGTCTTGGATCCCAGGGTGGCCCAGCCTGCTCAGCATCTGTTGGGTGTAGCCGCCTGGGAAATGGACTTCAGCCTTACAAAGAGCAAGACAGTGGGTCTCGCCCAGCGTCCTGGACCATGGCTAGCAGTGGAGGAGGAAGGCTCTGTTTGAGAAGATGGTGAGTCCCAGACCTGTTGATCCCACCCGTCAAGAGGGTTACACCCAAAGCCTTGTGCATCCGACACATACCTATGGAGCACTGACCATACGCCAGGCACTGAACCAGGCACTGGAGAACAATGTGAACACAGCCATTGCTGCTATCCTCAGACTGCGGGGAGGTGGCAGTCAAAATAAACAGAATACTGGCAGATCGTGACAGTGCTGTGAGGGAACGATGACAGAGACACCAGGTGTGTGTGCACATGCGCAGGAGGGGATCTAGGGAAGCCACTGGAGACAAGCTCACCATGCTTCTGCCTTCTATACTAGTCCCCCGTGCCTGGAATGTTCCTCCCTAGGTGTGCACGTGGCTCCTTCTCTCACCTCTAGTTCTTCATTCAGGTTCTCTCCTCTGCAGGCTCTCCCTGGGCCACCCTACCTCAAAATGCAAACCCTGCCCCAGCAGTTCCTCCCTGCGTTACTTTTCCCTGAGGACTTTTCACTCTCTAATGTACTGGATATTTTACCTATTTATCTACAGATCGTCTATCCCTCCCACTAGAATGTAATCTCCATTTTTAACTTTTTATTTGGAAATAGTTTCAAACTCACACAAACATATAGGAATAAAAATAGTTCATAGAATTATTAACTAATAAAACCCTTCTCTCTCTCACACACAATTTTTTGTGACCCATTTGAGGGTAAATTACTCATCACAGCCCTTCACTCCTAAATACTTCAGGGCATATTTCCTAAGAATAGAGATCTTCTCTTACATAACCACAGTACATTATCAATGTCAGTAAACTTAATGTTATGATACATTTACCTAATCTACTGTTCATAGTTCAGTTTTGTCAGTTGGTCCAATAATATCCTTCTATCATTTTTTTTCTCTTCTGCACAAGATGTAGTCTATTGTCTGCTATTCAGTCATTATGCCTGTTTAGCCTCCTGCGATCAGAGATATTTCCATAGCTCTTTCTTTGTCTTTTATGACTCTTATGTTTTTGAAGAATACAGTCTCCTTTTTTTTTTTTTAAGGAATATTCCTTCTTTGGAGCTTGTCAGATGTTTCCTCATGATAAGATTCAGGTTACATATCTCCAATCTGGATTCTACATAAGTGAAATTGTGTCCTTCACAGGGTATCACATCTCGGGGCATGAGATGTCCATCTGCCCCTTATGGTTAATTTTGATCACCCAGTTAAGGTGCTGTCTAATTTCTCCATTGTAAAATTATTATGTTTCTCCCATGTAACCAATAAGCAATCTGTACAGAGTTACTTTTATTTCTTTAAAATTATATTATTATTATTTTAAGAGACAGAGTCTTGCTCTGTTTCCCAGGCTGGAGAGCAGTGGCTTGATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCATTCCTCCCACCTCAGCCACCTGAGTAGCTGGGACTATAGGCGTGCACCACCAGGCCCAGCTAATTTGTTTGCTAATTTTTTGTAGAGACAGGGTCTCCCTATGTTGCACAGGCTAATCTGGAACTCCTGGGCTCAAGCGATCTTCCTACCTTGGCCTCCCAAAGTGCTGCGATTACAGGTGTGAGCCACCATGCCCAGCCCCTTATTTTTTTTTTAAAAGCACTTCCTT
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CACAGGTCTGGTGACCTGACATGCTGCTATTTCTATAGATATCTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAAGTGTTTGTTAAATAAATGAGTAATTGTAACTCTGCTCTTTTCTAGGTTATAAAGCATATCAGAACGTGAATGAGCACGGCAATATGCTGATAATCTTAAACTGTTAGCTTTGGCATGCAAACTCTTAATAATAAGGAATTATCTACAATAGTTTACAATGTGTGGGTACAGGATAAGGATAATCCTATTCAAGATTACTGCCATTGTTGGTTTGTCATATAACATATGGTCTTTTTTCAAACTCAAAAGCATACAATATTCTAAAAACAAAGATGGGTCCTCAAGTCAGTTGGTCTCCTAACCATTCCTACATTGGAGTGGACTCTTAGTAAATAGGCCACAGGTCCCGGATCTGTTGAGATAAGTGGTGAAATATTGAGGCAGTGGTAGCAGCCCTCCCTCATCCCAGCCAGGCTCTGCATGCATCCTGATCAGATGCCCCATCCAGAGACTTGGGCGAGTCTTCGACCACAGGAAATTAGGCCAATATAGAGGAGTTTCTTATCAGCATGATGGCCTTCTCCATCTGCTGCTGGAGAATGAGGCCCAGCCACCACCTGCCTCTGCCCCAGGGGATGACGGAGCAGCAGGACTCTTCCAAGTGTCAATGGAGAACACAGGATCCAGGTGGATCCACAGAAGGCAACAAGGGGCACGCCCCACCATCTGCTTACTTGGACTTGAGATGCTGAATGGTGCCCATACATCGAAAGGCGCCCTTTACCATGATGGCCAGCCGGGTACACAGTGCCTCACATTCTTCCATGCTGTGGGGCAGGAGAGAGGAGGTGAGCAGGAGAGGATTCCCACCCACCTTCCCCAGCCCTGGGAATCTCTTGCCTGTGGGATGTGAGGACCACAGCCCTCCCTTCTCTGATGATGCTCACGATGACGTTCCACAGCATGCGGCGTGCCTGGGGGTCCATCCCTGTGGTGGGCTCATCCTGGGGGGTGGAGAGAAGGTTGGGGGCACAGGCTGGGAGCTGGCCCTTCTGATTACTGCTTCCCCCTGGGCTGGCTCCCCTGTGGAGGATGAGCTGACAGAAGGCGCACACAGTCACTCCCCTCACTTGAGCAAGACAGGGGTACCCTGGTGTAGGGTAGGGAAGGCAGGAGGTGGATCCAAGAGTAAAGAAGCGTGGCGTCCATCCTGGGCCCATTTCAGCCCACGAGGGGATTAAAGTGGATTAAGGCAATGACAGAATTCTCCTCAAAAAAAGAAAATCCTGCAAATACATTTGTCAGAAGGCAGGGAGGTCACTCAGGTCACTTCCTTGGTTCCCGCTATGTCCTGTGCCCTCATGATCCTTGGGCTGCGTGGGCATGGCCTCAGGCCTGGCCTGGCTCAGCTCAGGAGCCTTTGACCCAGCTCAGTGCTCCTGTATGGGGACCAGACACCGACAGGCCGCAGAGTGGGCTGAACTTCCCGGCTGTGAGCCGATGGCCCCACAGGAGACATCCTGGGAACGCAGGATGTGCGCAGTCCCAAGTCAAGGCTGTGCCGTGACTTGTTTTTCTCCGGAGCTGTGTGAACCAAACACTGGGCTGATCGCTCAAAATGAGCAACACAGGAAACAGTCCAGACTAAAGCCAAACTGCTGCAGTTTCTAAATCTGCCGACCCAGAACCTATTTCCCCAACCCAAGAGACCCAGCACTTGGTTTAAGCCCTTGGTGCGGCCCAAGCCCGCAGTTACCAGCAGCACCAGCGGTGGGCAGCCAATGAGTGCGATGGCTGTGGAGAGTTTCCGCTTGTTGTCCCCACTGTACGTGCCAGCCAGGCAGTCGGCGTAGACAGTCAGGCCCAGGCTCTTAATACTCCAGTTTGCAACCTAGGGAAGAGAAAGAAATGCCATTTGGAGAAGACAAGCAAACACCCCAAACCTCCCCCAGTTCAAAGCCTTGGGCTCCCAGATCTCACGCCTCCAGAATGAAATCCCCAGCTAGGCTGAAACAGGCTCCTGCTGGCTCCTGTCCTCTGGCATGTGCTTCAGGCGCCAGACAGGGGCTCTTTCTCTCTGTGTCTTGGATCCCAGGGTGGCCCAGCCTGCTCAGCATCTGTTGGGTGTAGCCGCCTGGGAAATGGACTTCAGCCTTACAAAGAGCAAGACAGTGGGTCTCGCCCAGCGTCCTGGACCATGGCTAGCAGTGGAGGAGGAAGGCTCTGTTTGAGAAGATGGTGAGTCCCAGACCTGTTGATCCCACCCGTCAAGAGGGTTACACCCAAAGCCTTGTGCATCCGACACATACCTATGGAGCACTGACCATACGCCAGGCACTGAACCAGGCACTGGAGAACAATGTGAACACAGCCATTGCTGCTATCCTCAGACTGCGGGGAGGTGGCAGTCAAAATAAACAGAATACTGGCAGATCGTGACAGTGCTGTGAGGGAACGATGACAGAGACACCAGGTGTGTGTGCACATGCGCAGGAGGGGATCTAGGGAAGCCACTGGAGACAAGCTCACCATGCTTCTGCCTTCTATACTAGTCCCCCGTGCCTGGAATGTTCCTCCCTAGGTGTGCACGTGGCTCCTTCTCTCACCTCTAGTTCTTCATTCAGGTTCTCTCCTCTGCAGGCTCTCCCTGGGCCACCCTACCTCAAAATGCAAACCCTGCCCCAGCAGTTCCTCCCTGCGTTACTTTTCCCTGAGGACTTTTCACTCTCTAATGTACTGGATATTTTACCTATTTATCTACAGATCGTCTATCCCTCCCACTAGAATGTAATCTCCATTTTTAACTTTTTATTTGGAAATAGTTTCAAACTCACACAAACATATAGGAATAAAAATAGTTCATAGAATTATTAACTAATAAAACCCTTCTCTCTCTCACACACAATTTTTTGTGACCCATTTGAGGGTAAATTACTCATCACAGCCCTTCACTCCTAAATACTTCAGGGCATATTTCCTAAGAATAGAGATCTTCTCTTACATAACCACAGTACATTATCAATGTCAGTAAACTTAATGTTATGATACATTTACCTAATCTACTGTTCATAGTTCAGTTTTGTCAGTTGGTCCAATAATATCCTTCTATCATTTTTTTTCTCTTCTGCACAAGATGTAGTCTATTGTCTGCTATTCAGTCATTATGCCTGTTTAGCCTCCTGCGATCAGAGATATTTCCATAGCTCTTTCTTTGTCTTTTATGACTCTTATGTTTTTGAAGAATACAGTCTCCTTTTTTTTTTTTTAAGGAATATTCCTTCTTTGGAGCTTGTCAGATGTTTCCTCATGATAAGATTCAGGTTACATATCTCCAATCTGGATTCTACATAAGTGAAATTGTGTCCTTCACAGGGTATCACATCTCGGGGCATGAGATGTCCATCTGCCCCTTATGGTTAATTTTGATCACCCAGTTAAGGTGCTGTCTAATTTCTCCATTGTAAAATTATTATGTTTCTCCCATGTAACCAATAAGCAATCTGTACAGAGTTACTTTTATTTCTTTAAAATTATATTATTATTATTTTAAGAGACAGAGTCTTGCTCTGTTTCCCAGGCTGGAGAGCAGTGGCTTGATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCATTCCTCCCACCTCAGCCACCTGAGTAGCTGGGACTATAGGCGTGCACCACCAGGCCCAGCTAATTTGTTTGCTAATTTTTTGTAGAGACAGGGTCTCCCTATGTTGCACAGGCTAATCTGGAACTCCTGGGCTCAAGCGATCTTCCTACCTTGGCCTCCCAAAGTGCTGCGATTACAGGTGTGAGCCACCATGCCCAGCCCCTTATTTTTTTTTTAAAAGCACTTCCTT
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Task1_train_1114
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This alteration occurs within gene ABCA4 (ATP binding cassette subfamily A member 4) located on Chromosome 1. Is it associated with a disease or is it a benign variant?
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Pathogenic; not provided
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ACAGGTCTGGTGACCTGACATGCTGCTATTTCTATAGATATCTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAAGTGTTTGTTAAATAAATGAGTAATTGTAACTCTGCTCTTTTCTAGGTTATAAAGCATATCAGAACGTGAATGAGCACGGCAATATGCTGATAATCTTAAACTGTTAGCTTTGGCATGCAAACTCTTAATAATAAGGAATTATCTACAATAGTTTACAATGTGTGGGTACAGGATAAGGATAATCCTATTCAAGATTACTGCCATTGTTGGTTTGTCATATAACATATGGTCTTTTTTCAAACTCAAAAGCATACAATATTCTAAAAACAAAGATGGGTCCTCAAGTCAGTTGGTCTCCTAACCATTCCTACATTGGAGTGGACTCTTAGTAAATAGGCCACAGGTCCCGGATCTGTTGAGATAAGTGGTGAAATATTGAGGCAGTGGTAGCAGCCCTCCCTCATCCCAGCCAGGCTCTGCATGCATCCTGATCAGATGCCCCATCCAGAGACTTGGGCGAGTCTTCGACCACAGGAAATTAGGCCAATATAGAGGAGTTTCTTATCAGCATGATGGCCTTCTCCATCTGCTGCTGGAGAATGAGGCCCAGCCACCACCTGCCTCTGCCCCAGGGGATGACGGAGCAGCAGGACTCTTCCAAGTGTCAATGGAGAACACAGGATCCAGGTGGATCCACAGAAGGCAACAAGGGGCACGCCCCACCATCTGCTTACTTGGACTTGAGATGCTGAATGGTGCCCATACATCGAAAGGCGCCCTTTACCATGATGGCCAGCCGGGTACACAGTGCCTCACATTCTTCCATGCTGTGGGGCAGGAGAGAGGAGGTGAGCAGGAGAGGATTCCCACCCACCTTCCCCAGCCCTGGGAATCTCTTGCCTGTGGGATGTGAGGACCACAGCCCTCCCTTCTCTGATGATGCTCACGATGACGTTCCACAGCATGCGGCGTGCCTGGGGGTCCATCCCTGTGGTGGGCTCATCCTGGGGGGTGGAGAGAAGGTTGGGGGCACAGGCTGGGAGCTGGCCCTTCTGATTACTGCTTCCCCCTGGGCTGGCTCCCCTGTGGAGGATGAGCTGACAGAAGGCGCACACAGTCACTCCCCTCACTTGAGCAAGACAGGGGTACCCTGGTGTAGGGTAGGGAAGGCAGGAGGTGGATCCAAGAGTAAAGAAGCGTGGCGTCCATCCTGGGCCCATTTCAGCCCACGAGGGGATTAAAGTGGATTAAGGCAATGACAGAATTCTCCTCAAAAAAAGAAAATCCTGCAAATACATTTGTCAGAAGGCAGGGAGGTCACTCAGGTCACTTCCTTGGTTCCCGCTATGTCCTGTGCCCTCATGATCCTTGGGCTGCGTGGGCATGGCCTCAGGCCTGGCCTGGCTCAGCTCAGGAGCCTTTGACCCAGCTCAGTGCTCCTGTATGGGGACCAGACACCGACAGGCCGCAGAGTGGGCTGAACTTCCCGGCTGTGAGCCGATGGCCCCACAGGAGACATCCTGGGAACGCAGGATGTGCGCAGTCCCAAGTCAAGGCTGTGCCGTGACTTGTTTTTCTCCGGAGCTGTGTGAACCAAACACTGGGCTGATCGCTCAAAATGAGCAACACAGGAAACAGTCCAGACTAAAGCCAAACTGCTGCAGTTTCTAAATCTGCCGACCCAGAACCTATTTCCCCAACCCAAGAGACCCAGCACTTGGTTTAAGCCCTTGGTGCGGCCCAAGCCCGCAGTTACCAGCAGCACCAGCGGTGGGCAGCCAATGAGTGCGATGGCTGTGGAGAGTTTCCGCTTGTTGCCCCCACTGTACGTGCCAGCCAGGCAGTCGGCGTAGACAGTCAGGCCCAGGCTCTTAATACTCCAGTTTGCAACCTAGGGAAGAGAAAGAAATGCCATTTGGAGAAGACAAGCAAACACCCCAAACCTCCCCCAGTTCAAAGCCTTGGGCTCCCAGATCTCACGCCTCCAGAATGAAATCCCCAGCTAGGCTGAAACAGGCTCCTGCTGGCTCCTGTCCTCTGGCATGTGCTTCAGGCGCCAGACAGGGGCTCTTTCTCTCTGTGTCTTGGATCCCAGGGTGGCCCAGCCTGCTCAGCATCTGTTGGGTGTAGCCGCCTGGGAAATGGACTTCAGCCTTACAAAGAGCAAGACAGTGGGTCTCGCCCAGCGTCCTGGACCATGGCTAGCAGTGGAGGAGGAAGGCTCTGTTTGAGAAGATGGTGAGTCCCAGACCTGTTGATCCCACCCGTCAAGAGGGTTACACCCAAAGCCTTGTGCATCCGACACATACCTATGGAGCACTGACCATACGCCAGGCACTGAACCAGGCACTGGAGAACAATGTGAACACAGCCATTGCTGCTATCCTCAGACTGCGGGGAGGTGGCAGTCAAAATAAACAGAATACTGGCAGATCGTGACAGTGCTGTGAGGGAACGATGACAGAGACACCAGGTGTGTGTGCACATGCGCAGGAGGGGATCTAGGGAAGCCACTGGAGACAAGCTCACCATGCTTCTGCCTTCTATACTAGTCCCCCGTGCCTGGAATGTTCCTCCCTAGGTGTGCACGTGGCTCCTTCTCTCACCTCTAGTTCTTCATTCAGGTTCTCTCCTCTGCAGGCTCTCCCTGGGCCACCCTACCTCAAAATGCAAACCCTGCCCCAGCAGTTCCTCCCTGCGTTACTTTTCCCTGAGGACTTTTCACTCTCTAATGTACTGGATATTTTACCTATTTATCTACAGATCGTCTATCCCTCCCACTAGAATGTAATCTCCATTTTTAACTTTTTATTTGGAAATAGTTTCAAACTCACACAAACATATAGGAATAAAAATAGTTCATAGAATTATTAACTAATAAAACCCTTCTCTCTCTCACACACAATTTTTTGTGACCCATTTGAGGGTAAATTACTCATCACAGCCCTTCACTCCTAAATACTTCAGGGCATATTTCCTAAGAATAGAGATCTTCTCTTACATAACCACAGTACATTATCAATGTCAGTAAACTTAATGTTATGATACATTTACCTAATCTACTGTTCATAGTTCAGTTTTGTCAGTTGGTCCAATAATATCCTTCTATCATTTTTTTTCTCTTCTGCACAAGATGTAGTCTATTGTCTGCTATTCAGTCATTATGCCTGTTTAGCCTCCTGCGATCAGAGATATTTCCATAGCTCTTTCTTTGTCTTTTATGACTCTTATGTTTTTGAAGAATACAGTCTCCTTTTTTTTTTTTTAAGGAATATTCCTTCTTTGGAGCTTGTCAGATGTTTCCTCATGATAAGATTCAGGTTACATATCTCCAATCTGGATTCTACATAAGTGAAATTGTGTCCTTCACAGGGTATCACATCTCGGGGCATGAGATGTCCATCTGCCCCTTATGGTTAATTTTGATCACCCAGTTAAGGTGCTGTCTAATTTCTCCATTGTAAAATTATTATGTTTCTCCCATGTAACCAATAAGCAATCTGTACAGAGTTACTTTTATTTCTTTAAAATTATATTATTATTATTTTAAGAGACAGAGTCTTGCTCTGTTTCCCAGGCTGGAGAGCAGTGGCTTGATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCATTCCTCCCACCTCAGCCACCTGAGTAGCTGGGACTATAGGCGTGCACCACCAGGCCCAGCTAATTTGTTTGCTAATTTTTTGTAGAGACAGGGTCTCCCTATGTTGCACAGGCTAATCTGGAACTCCTGGGCTCAAGCGATCTTCCTACCTTGGCCTCCCAAAGTGCTGCGATTACAGGTGTGAGCCACCATGCCCAGCCCCTTATTTTTTTTTTAAAAGCACTTCCTTA
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ACAGGTCTGGTGACCTGACATGCTGCTATTTCTATAGATATCTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAAGTGTTTGTTAAATAAATGAGTAATTGTAACTCTGCTCTTTTCTAGGTTATAAAGCATATCAGAACGTGAATGAGCACGGCAATATGCTGATAATCTTAAACTGTTAGCTTTGGCATGCAAACTCTTAATAATAAGGAATTATCTACAATAGTTTACAATGTGTGGGTACAGGATAAGGATAATCCTATTCAAGATTACTGCCATTGTTGGTTTGTCATATAACATATGGTCTTTTTTCAAACTCAAAAGCATACAATATTCTAAAAACAAAGATGGGTCCTCAAGTCAGTTGGTCTCCTAACCATTCCTACATTGGAGTGGACTCTTAGTAAATAGGCCACAGGTCCCGGATCTGTTGAGATAAGTGGTGAAATATTGAGGCAGTGGTAGCAGCCCTCCCTCATCCCAGCCAGGCTCTGCATGCATCCTGATCAGATGCCCCATCCAGAGACTTGGGCGAGTCTTCGACCACAGGAAATTAGGCCAATATAGAGGAGTTTCTTATCAGCATGATGGCCTTCTCCATCTGCTGCTGGAGAATGAGGCCCAGCCACCACCTGCCTCTGCCCCAGGGGATGACGGAGCAGCAGGACTCTTCCAAGTGTCAATGGAGAACACAGGATCCAGGTGGATCCACAGAAGGCAACAAGGGGCACGCCCCACCATCTGCTTACTTGGACTTGAGATGCTGAATGGTGCCCATACATCGAAAGGCGCCCTTTACCATGATGGCCAGCCGGGTACACAGTGCCTCACATTCTTCCATGCTGTGGGGCAGGAGAGAGGAGGTGAGCAGGAGAGGATTCCCACCCACCTTCCCCAGCCCTGGGAATCTCTTGCCTGTGGGATGTGAGGACCACAGCCCTCCCTTCTCTGATGATGCTCACGATGACGTTCCACAGCATGCGGCGTGCCTGGGGGTCCATCCCTGTGGTGGGCTCATCCTGGGGGGTGGAGAGAAGGTTGGGGGCACAGGCTGGGAGCTGGCCCTTCTGATTACTGCTTCCCCCTGGGCTGGCTCCCCTGTGGAGGATGAGCTGACAGAAGGCGCACACAGTCACTCCCCTCACTTGAGCAAGACAGGGGTACCCTGGTGTAGGGTAGGGAAGGCAGGAGGTGGATCCAAGAGTAAAGAAGCGTGGCGTCCATCCTGGGCCCATTTCAGCCCACGAGGGGATTAAAGTGGATTAAGGCAATGACAGAATTCTCCTCAAAAAAAGAAAATCCTGCAAATACATTTGTCAGAAGGCAGGGAGGTCACTCAGGTCACTTCCTTGGTTCCCGCTATGTCCTGTGCCCTCATGATCCTTGGGCTGCGTGGGCATGGCCTCAGGCCTGGCCTGGCTCAGCTCAGGAGCCTTTGACCCAGCTCAGTGCTCCTGTATGGGGACCAGACACCGACAGGCCGCAGAGTGGGCTGAACTTCCCGGCTGTGAGCCGATGGCCCCACAGGAGACATCCTGGGAACGCAGGATGTGCGCAGTCCCAAGTCAAGGCTGTGCCGTGACTTGTTTTTCTCCGGAGCTGTGTGAACCAAACACTGGGCTGATCGCTCAAAATGAGCAACACAGGAAACAGTCCAGACTAAAGCCAAACTGCTGCAGTTTCTAAATCTGCCGACCCAGAACCTATTTCCCCAACCCAAGAGACCCAGCACTTGGTTTAAGCCCTTGGTGCGGCCCAAGCCCGCAGTTACCAGCAGCACCAGCGGTGGGCAGCCAATGAGTGCGATGGCTGTGGAGAGTTTCCGCTTGTTGCTCCCACTGTACGTGCCAGCCAGGCAGTCGGCGTAGACAGTCAGGCCCAGGCTCTTAATACTCCAGTTTGCAACCTAGGGAAGAGAAAGAAATGCCATTTGGAGAAGACAAGCAAACACCCCAAACCTCCCCCAGTTCAAAGCCTTGGGCTCCCAGATCTCACGCCTCCAGAATGAAATCCCCAGCTAGGCTGAAACAGGCTCCTGCTGGCTCCTGTCCTCTGGCATGTGCTTCAGGCGCCAGACAGGGGCTCTTTCTCTCTGTGTCTTGGATCCCAGGGTGGCCCAGCCTGCTCAGCATCTGTTGGGTGTAGCCGCCTGGGAAATGGACTTCAGCCTTACAAAGAGCAAGACAGTGGGTCTCGCCCAGCGTCCTGGACCATGGCTAGCAGTGGAGGAGGAAGGCTCTGTTTGAGAAGATGGTGAGTCCCAGACCTGTTGATCCCACCCGTCAAGAGGGTTACACCCAAAGCCTTGTGCATCCGACACATACCTATGGAGCACTGACCATACGCCAGGCACTGAACCAGGCACTGGAGAACAATGTGAACACAGCCATTGCTGCTATCCTCAGACTGCGGGGAGGTGGCAGTCAAAATAAACAGAATACTGGCAGATCGTGACAGTGCTGTGAGGGAACGATGACAGAGACACCAGGTGTGTGTGCACATGCGCAGGAGGGGATCTAGGGAAGCCACTGGAGACAAGCTCACCATGCTTCTGCCTTCTATACTAGTCCCCCGTGCCTGGAATGTTCCTCCCTAGGTGTGCACGTGGCTCCTTCTCTCACCTCTAGTTCTTCATTCAGGTTCTCTCCTCTGCAGGCTCTCCCTGGGCCACCCTACCTCAAAATGCAAACCCTGCCCCAGCAGTTCCTCCCTGCGTTACTTTTCCCTGAGGACTTTTCACTCTCTAATGTACTGGATATTTTACCTATTTATCTACAGATCGTCTATCCCTCCCACTAGAATGTAATCTCCATTTTTAACTTTTTATTTGGAAATAGTTTCAAACTCACACAAACATATAGGAATAAAAATAGTTCATAGAATTATTAACTAATAAAACCCTTCTCTCTCTCACACACAATTTTTTGTGACCCATTTGAGGGTAAATTACTCATCACAGCCCTTCACTCCTAAATACTTCAGGGCATATTTCCTAAGAATAGAGATCTTCTCTTACATAACCACAGTACATTATCAATGTCAGTAAACTTAATGTTATGATACATTTACCTAATCTACTGTTCATAGTTCAGTTTTGTCAGTTGGTCCAATAATATCCTTCTATCATTTTTTTTCTCTTCTGCACAAGATGTAGTCTATTGTCTGCTATTCAGTCATTATGCCTGTTTAGCCTCCTGCGATCAGAGATATTTCCATAGCTCTTTCTTTGTCTTTTATGACTCTTATGTTTTTGAAGAATACAGTCTCCTTTTTTTTTTTTTAAGGAATATTCCTTCTTTGGAGCTTGTCAGATGTTTCCTCATGATAAGATTCAGGTTACATATCTCCAATCTGGATTCTACATAAGTGAAATTGTGTCCTTCACAGGGTATCACATCTCGGGGCATGAGATGTCCATCTGCCCCTTATGGTTAATTTTGATCACCCAGTTAAGGTGCTGTCTAATTTCTCCATTGTAAAATTATTATGTTTCTCCCATGTAACCAATAAGCAATCTGTACAGAGTTACTTTTATTTCTTTAAAATTATATTATTATTATTTTAAGAGACAGAGTCTTGCTCTGTTTCCCAGGCTGGAGAGCAGTGGCTTGATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCATTCCTCCCACCTCAGCCACCTGAGTAGCTGGGACTATAGGCGTGCACCACCAGGCCCAGCTAATTTGTTTGCTAATTTTTTGTAGAGACAGGGTCTCCCTATGTTGCACAGGCTAATCTGGAACTCCTGGGCTCAAGCGATCTTCCTACCTTGGCCTCCCAAAGTGCTGCGATTACAGGTGTGAGCCACCATGCCCAGCCCCTTATTTTTTTTTTAAAAGCACTTCCTTA
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Task1_train_1115
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Consider a variant on Chromosome 1 in gene ABCA4 (ATP binding cassette subfamily A member 4). Determine its clinical classification and disease relevance.
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Pathogenic; Retinal dystrophy
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TTCTATAGATATCTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAAGTGTTTGTTAAATAAATGAGTAATTGTAACTCTGCTCTTTTCTAGGTTATAAAGCATATCAGAACGTGAATGAGCACGGCAATATGCTGATAATCTTAAACTGTTAGCTTTGGCATGCAAACTCTTAATAATAAGGAATTATCTACAATAGTTTACAATGTGTGGGTACAGGATAAGGATAATCCTATTCAAGATTACTGCCATTGTTGGTTTGTCATATAACATATGGTCTTTTTTCAAACTCAAAAGCATACAATATTCTAAAAACAAAGATGGGTCCTCAAGTCAGTTGGTCTCCTAACCATTCCTACATTGGAGTGGACTCTTAGTAAATAGGCCACAGGTCCCGGATCTGTTGAGATAAGTGGTGAAATATTGAGGCAGTGGTAGCAGCCCTCCCTCATCCCAGCCAGGCTCTGCATGCATCCTGATCAGATGCCCCATCCAGAGACTTGGGCGAGTCTTCGACCACAGGAAATTAGGCCAATATAGAGGAGTTTCTTATCAGCATGATGGCCTTCTCCATCTGCTGCTGGAGAATGAGGCCCAGCCACCACCTGCCTCTGCCCCAGGGGATGACGGAGCAGCAGGACTCTTCCAAGTGTCAATGGAGAACACAGGATCCAGGTGGATCCACAGAAGGCAACAAGGGGCACGCCCCACCATCTGCTTACTTGGACTTGAGATGCTGAATGGTGCCCATACATCGAAAGGCGCCCTTTACCATGATGGCCAGCCGGGTACACAGTGCCTCACATTCTTCCATGCTGTGGGGCAGGAGAGAGGAGGTGAGCAGGAGAGGATTCCCACCCACCTTCCCCAGCCCTGGGAATCTCTTGCCTGTGGGATGTGAGGACCACAGCCCTCCCTTCTCTGATGATGCTCACGATGACGTTCCACAGCATGCGGCGTGCCTGGGGGTCCATCCCTGTGGTGGGCTCATCCTGGGGGGTGGAGAGAAGGTTGGGGGCACAGGCTGGGAGCTGGCCCTTCTGATTACTGCTTCCCCCTGGGCTGGCTCCCCTGTGGAGGATGAGCTGACAGAAGGCGCACACAGTCACTCCCCTCACTTGAGCAAGACAGGGGTACCCTGGTGTAGGGTAGGGAAGGCAGGAGGTGGATCCAAGAGTAAAGAAGCGTGGCGTCCATCCTGGGCCCATTTCAGCCCACGAGGGGATTAAAGTGGATTAAGGCAATGACAGAATTCTCCTCAAAAAAAGAAAATCCTGCAAATACATTTGTCAGAAGGCAGGGAGGTCACTCAGGTCACTTCCTTGGTTCCCGCTATGTCCTGTGCCCTCATGATCCTTGGGCTGCGTGGGCATGGCCTCAGGCCTGGCCTGGCTCAGCTCAGGAGCCTTTGACCCAGCTCAGTGCTCCTGTATGGGGACCAGACACCGACAGGCCGCAGAGTGGGCTGAACTTCCCGGCTGTGAGCCGATGGCCCCACAGGAGACATCCTGGGAACGCAGGATGTGCGCAGTCCCAAGTCAAGGCTGTGCCGTGACTTGTTTTTCTCCGGAGCTGTGTGAACCAAACACTGGGCTGATCGCTCAAAATGAGCAACACAGGAAACAGTCCAGACTAAAGCCAAACTGCTGCAGTTTCTAAATCTGCCGACCCAGAACCTATTTCCCCAACCCAAGAGACCCAGCACTTGGTTTAAGCCCTTGGTGCGGCCCAAGCCCGCAGTTACCAGCAGCACCAGCGGTGGGCAGCCAATGAGTGCGATGGCTGTGGAGAGTTTCCGCTTGTTGCCCCCACTGTACGTGCCAGCCAGGCAGTCGGCGTAGACAGTCAGGCCCAGGCTCTTAATACTCCAGTTTGCAACCTAGGGAAGAGAAAGAAATGCCATTTGGAGAAGACAAGCAAACACCCCAAACCTCCCCCAGTTCAAAGCCTTGGGCTCCCAGATCTCACGCCTCCAGAATGAAATCCCCAGCTAGGCTGAAACAGGCTCCTGCTGGCTCCTGTCCTCTGGCATGTGCTTCAGGCGCCAGACAGGGGCTCTTTCTCTCTGTGTCTTGGATCCCAGGGTGGCCCAGCCTGCTCAGCATCTGTTGGGTGTAGCCGCCTGGGAAATGGACTTCAGCCTTACAAAGAGCAAGACAGTGGGTCTCGCCCAGCGTCCTGGACCATGGCTAGCAGTGGAGGAGGAAGGCTCTGTTTGAGAAGATGGTGAGTCCCAGACCTGTTGATCCCACCCGTCAAGAGGGTTACACCCAAAGCCTTGTGCATCCGACACATACCTATGGAGCACTGACCATACGCCAGGCACTGAACCAGGCACTGGAGAACAATGTGAACACAGCCATTGCTGCTATCCTCAGACTGCGGGGAGGTGGCAGTCAAAATAAACAGAATACTGGCAGATCGTGACAGTGCTGTGAGGGAACGATGACAGAGACACCAGGTGTGTGTGCACATGCGCAGGAGGGGATCTAGGGAAGCCACTGGAGACAAGCTCACCATGCTTCTGCCTTCTATACTAGTCCCCCGTGCCTGGAATGTTCCTCCCTAGGTGTGCACGTGGCTCCTTCTCTCACCTCTAGTTCTTCATTCAGGTTCTCTCCTCTGCAGGCTCTCCCTGGGCCACCCTACCTCAAAATGCAAACCCTGCCCCAGCAGTTCCTCCCTGCGTTACTTTTCCCTGAGGACTTTTCACTCTCTAATGTACTGGATATTTTACCTATTTATCTACAGATCGTCTATCCCTCCCACTAGAATGTAATCTCCATTTTTAACTTTTTATTTGGAAATAGTTTCAAACTCACACAAACATATAGGAATAAAAATAGTTCATAGAATTATTAACTAATAAAACCCTTCTCTCTCTCACACACAATTTTTTGTGACCCATTTGAGGGTAAATTACTCATCACAGCCCTTCACTCCTAAATACTTCAGGGCATATTTCCTAAGAATAGAGATCTTCTCTTACATAACCACAGTACATTATCAATGTCAGTAAACTTAATGTTATGATACATTTACCTAATCTACTGTTCATAGTTCAGTTTTGTCAGTTGGTCCAATAATATCCTTCTATCATTTTTTTTCTCTTCTGCACAAGATGTAGTCTATTGTCTGCTATTCAGTCATTATGCCTGTTTAGCCTCCTGCGATCAGAGATATTTCCATAGCTCTTTCTTTGTCTTTTATGACTCTTATGTTTTTGAAGAATACAGTCTCCTTTTTTTTTTTTTAAGGAATATTCCTTCTTTGGAGCTTGTCAGATGTTTCCTCATGATAAGATTCAGGTTACATATCTCCAATCTGGATTCTACATAAGTGAAATTGTGTCCTTCACAGGGTATCACATCTCGGGGCATGAGATGTCCATCTGCCCCTTATGGTTAATTTTGATCACCCAGTTAAGGTGCTGTCTAATTTCTCCATTGTAAAATTATTATGTTTCTCCCATGTAACCAATAAGCAATCTGTACAGAGTTACTTTTATTTCTTTAAAATTATATTATTATTATTTTAAGAGACAGAGTCTTGCTCTGTTTCCCAGGCTGGAGAGCAGTGGCTTGATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCATTCCTCCCACCTCAGCCACCTGAGTAGCTGGGACTATAGGCGTGCACCACCAGGCCCAGCTAATTTGTTTGCTAATTTTTTGTAGAGACAGGGTCTCCCTATGTTGCACAGGCTAATCTGGAACTCCTGGGCTCAAGCGATCTTCCTACCTTGGCCTCCCAAAGTGCTGCGATTACAGGTGTGAGCCACCATGCCCAGCCCCTTATTTTTTTTTTAAAAGCACTTCCTTACTTTCTGGCATAAGATATTCCAGGTTCAT
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TTCTATAGATATCTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAAGTGTTTGTTAAATAAATGAGTAATTGTAACTCTGCTCTTTTCTAGGTTATAAAGCATATCAGAACGTGAATGAGCACGGCAATATGCTGATAATCTTAAACTGTTAGCTTTGGCATGCAAACTCTTAATAATAAGGAATTATCTACAATAGTTTACAATGTGTGGGTACAGGATAAGGATAATCCTATTCAAGATTACTGCCATTGTTGGTTTGTCATATAACATATGGTCTTTTTTCAAACTCAAAAGCATACAATATTCTAAAAACAAAGATGGGTCCTCAAGTCAGTTGGTCTCCTAACCATTCCTACATTGGAGTGGACTCTTAGTAAATAGGCCACAGGTCCCGGATCTGTTGAGATAAGTGGTGAAATATTGAGGCAGTGGTAGCAGCCCTCCCTCATCCCAGCCAGGCTCTGCATGCATCCTGATCAGATGCCCCATCCAGAGACTTGGGCGAGTCTTCGACCACAGGAAATTAGGCCAATATAGAGGAGTTTCTTATCAGCATGATGGCCTTCTCCATCTGCTGCTGGAGAATGAGGCCCAGCCACCACCTGCCTCTGCCCCAGGGGATGACGGAGCAGCAGGACTCTTCCAAGTGTCAATGGAGAACACAGGATCCAGGTGGATCCACAGAAGGCAACAAGGGGCACGCCCCACCATCTGCTTACTTGGACTTGAGATGCTGAATGGTGCCCATACATCGAAAGGCGCCCTTTACCATGATGGCCAGCCGGGTACACAGTGCCTCACATTCTTCCATGCTGTGGGGCAGGAGAGAGGAGGTGAGCAGGAGAGGATTCCCACCCACCTTCCCCAGCCCTGGGAATCTCTTGCCTGTGGGATGTGAGGACCACAGCCCTCCCTTCTCTGATGATGCTCACGATGACGTTCCACAGCATGCGGCGTGCCTGGGGGTCCATCCCTGTGGTGGGCTCATCCTGGGGGGTGGAGAGAAGGTTGGGGGCACAGGCTGGGAGCTGGCCCTTCTGATTACTGCTTCCCCCTGGGCTGGCTCCCCTGTGGAGGATGAGCTGACAGAAGGCGCACACAGTCACTCCCCTCACTTGAGCAAGACAGGGGTACCCTGGTGTAGGGTAGGGAAGGCAGGAGGTGGATCCAAGAGTAAAGAAGCGTGGCGTCCATCCTGGGCCCATTTCAGCCCACGAGGGGATTAAAGTGGATTAAGGCAATGACAGAATTCTCCTCAAAAAAAGAAAATCCTGCAAATACATTTGTCAGAAGGCAGGGAGGTCACTCAGGTCACTTCCTTGGTTCCCGCTATGTCCTGTGCCCTCATGATCCTTGGGCTGCGTGGGCATGGCCTCAGGCCTGGCCTGGCTCAGCTCAGGAGCCTTTGACCCAGCTCAGTGCTCCTGTATGGGGACCAGACACCGACAGGCCGCAGAGTGGGCTGAACTTCCCGGCTGTGAGCCGATGGCCCCACAGGAGACATCCTGGGAACGCAGGATGTGCGCAGTCCCAAGTCAAGGCTGTGCCGTGACTTGTTTTTCTCCGGAGCTGTGTGAACCAAACACTGGGCTGATCGCTCAAAATGAGCAACACAGGAAACAGTCCAGACTAAAGCCAAACTGCTGCAGTTTCTAAATCTGCCGACCCAGAACCTATTTCCCCAACCCAAGAGACCCAGCACTTGGTTTAAGCCCTTGGTGCGGCCCAAGCCCGCAGTTACCAGCAGCACCAGCGGTGGGCAGCCAATGAGTGCGATGGCTGTGGAGAGTTTCCGCTTGTTGCCCCCACTGTACGTGCCAGCCAGGCAGTCGACGTAGACAGTCAGGCCCAGGCTCTTAATACTCCAGTTTGCAACCTAGGGAAGAGAAAGAAATGCCATTTGGAGAAGACAAGCAAACACCCCAAACCTCCCCCAGTTCAAAGCCTTGGGCTCCCAGATCTCACGCCTCCAGAATGAAATCCCCAGCTAGGCTGAAACAGGCTCCTGCTGGCTCCTGTCCTCTGGCATGTGCTTCAGGCGCCAGACAGGGGCTCTTTCTCTCTGTGTCTTGGATCCCAGGGTGGCCCAGCCTGCTCAGCATCTGTTGGGTGTAGCCGCCTGGGAAATGGACTTCAGCCTTACAAAGAGCAAGACAGTGGGTCTCGCCCAGCGTCCTGGACCATGGCTAGCAGTGGAGGAGGAAGGCTCTGTTTGAGAAGATGGTGAGTCCCAGACCTGTTGATCCCACCCGTCAAGAGGGTTACACCCAAAGCCTTGTGCATCCGACACATACCTATGGAGCACTGACCATACGCCAGGCACTGAACCAGGCACTGGAGAACAATGTGAACACAGCCATTGCTGCTATCCTCAGACTGCGGGGAGGTGGCAGTCAAAATAAACAGAATACTGGCAGATCGTGACAGTGCTGTGAGGGAACGATGACAGAGACACCAGGTGTGTGTGCACATGCGCAGGAGGGGATCTAGGGAAGCCACTGGAGACAAGCTCACCATGCTTCTGCCTTCTATACTAGTCCCCCGTGCCTGGAATGTTCCTCCCTAGGTGTGCACGTGGCTCCTTCTCTCACCTCTAGTTCTTCATTCAGGTTCTCTCCTCTGCAGGCTCTCCCTGGGCCACCCTACCTCAAAATGCAAACCCTGCCCCAGCAGTTCCTCCCTGCGTTACTTTTCCCTGAGGACTTTTCACTCTCTAATGTACTGGATATTTTACCTATTTATCTACAGATCGTCTATCCCTCCCACTAGAATGTAATCTCCATTTTTAACTTTTTATTTGGAAATAGTTTCAAACTCACACAAACATATAGGAATAAAAATAGTTCATAGAATTATTAACTAATAAAACCCTTCTCTCTCTCACACACAATTTTTTGTGACCCATTTGAGGGTAAATTACTCATCACAGCCCTTCACTCCTAAATACTTCAGGGCATATTTCCTAAGAATAGAGATCTTCTCTTACATAACCACAGTACATTATCAATGTCAGTAAACTTAATGTTATGATACATTTACCTAATCTACTGTTCATAGTTCAGTTTTGTCAGTTGGTCCAATAATATCCTTCTATCATTTTTTTTCTCTTCTGCACAAGATGTAGTCTATTGTCTGCTATTCAGTCATTATGCCTGTTTAGCCTCCTGCGATCAGAGATATTTCCATAGCTCTTTCTTTGTCTTTTATGACTCTTATGTTTTTGAAGAATACAGTCTCCTTTTTTTTTTTTTAAGGAATATTCCTTCTTTGGAGCTTGTCAGATGTTTCCTCATGATAAGATTCAGGTTACATATCTCCAATCTGGATTCTACATAAGTGAAATTGTGTCCTTCACAGGGTATCACATCTCGGGGCATGAGATGTCCATCTGCCCCTTATGGTTAATTTTGATCACCCAGTTAAGGTGCTGTCTAATTTCTCCATTGTAAAATTATTATGTTTCTCCCATGTAACCAATAAGCAATCTGTACAGAGTTACTTTTATTTCTTTAAAATTATATTATTATTATTTTAAGAGACAGAGTCTTGCTCTGTTTCCCAGGCTGGAGAGCAGTGGCTTGATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCATTCCTCCCACCTCAGCCACCTGAGTAGCTGGGACTATAGGCGTGCACCACCAGGCCCAGCTAATTTGTTTGCTAATTTTTTGTAGAGACAGGGTCTCCCTATGTTGCACAGGCTAATCTGGAACTCCTGGGCTCAAGCGATCTTCCTACCTTGGCCTCCCAAAGTGCTGCGATTACAGGTGTGAGCCACCATGCCCAGCCCCTTATTTTTTTTTTAAAAGCACTTCCTTACTTTCTGGCATAAGATATTCCAGGTTCAT
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Task1_train_1116
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This sequence change occurs on Chromosome 1, altering ABCA4 (ATP binding cassette subfamily A member 4). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Retinitis pigmentosa
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TTCTATAGATATCTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAAGTGTTTGTTAAATAAATGAGTAATTGTAACTCTGCTCTTTTCTAGGTTATAAAGCATATCAGAACGTGAATGAGCACGGCAATATGCTGATAATCTTAAACTGTTAGCTTTGGCATGCAAACTCTTAATAATAAGGAATTATCTACAATAGTTTACAATGTGTGGGTACAGGATAAGGATAATCCTATTCAAGATTACTGCCATTGTTGGTTTGTCATATAACATATGGTCTTTTTTCAAACTCAAAAGCATACAATATTCTAAAAACAAAGATGGGTCCTCAAGTCAGTTGGTCTCCTAACCATTCCTACATTGGAGTGGACTCTTAGTAAATAGGCCACAGGTCCCGGATCTGTTGAGATAAGTGGTGAAATATTGAGGCAGTGGTAGCAGCCCTCCCTCATCCCAGCCAGGCTCTGCATGCATCCTGATCAGATGCCCCATCCAGAGACTTGGGCGAGTCTTCGACCACAGGAAATTAGGCCAATATAGAGGAGTTTCTTATCAGCATGATGGCCTTCTCCATCTGCTGCTGGAGAATGAGGCCCAGCCACCACCTGCCTCTGCCCCAGGGGATGACGGAGCAGCAGGACTCTTCCAAGTGTCAATGGAGAACACAGGATCCAGGTGGATCCACAGAAGGCAACAAGGGGCACGCCCCACCATCTGCTTACTTGGACTTGAGATGCTGAATGGTGCCCATACATCGAAAGGCGCCCTTTACCATGATGGCCAGCCGGGTACACAGTGCCTCACATTCTTCCATGCTGTGGGGCAGGAGAGAGGAGGTGAGCAGGAGAGGATTCCCACCCACCTTCCCCAGCCCTGGGAATCTCTTGCCTGTGGGATGTGAGGACCACAGCCCTCCCTTCTCTGATGATGCTCACGATGACGTTCCACAGCATGCGGCGTGCCTGGGGGTCCATCCCTGTGGTGGGCTCATCCTGGGGGGTGGAGAGAAGGTTGGGGGCACAGGCTGGGAGCTGGCCCTTCTGATTACTGCTTCCCCCTGGGCTGGCTCCCCTGTGGAGGATGAGCTGACAGAAGGCGCACACAGTCACTCCCCTCACTTGAGCAAGACAGGGGTACCCTGGTGTAGGGTAGGGAAGGCAGGAGGTGGATCCAAGAGTAAAGAAGCGTGGCGTCCATCCTGGGCCCATTTCAGCCCACGAGGGGATTAAAGTGGATTAAGGCAATGACAGAATTCTCCTCAAAAAAAGAAAATCCTGCAAATACATTTGTCAGAAGGCAGGGAGGTCACTCAGGTCACTTCCTTGGTTCCCGCTATGTCCTGTGCCCTCATGATCCTTGGGCTGCGTGGGCATGGCCTCAGGCCTGGCCTGGCTCAGCTCAGGAGCCTTTGACCCAGCTCAGTGCTCCTGTATGGGGACCAGACACCGACAGGCCGCAGAGTGGGCTGAACTTCCCGGCTGTGAGCCGATGGCCCCACAGGAGACATCCTGGGAACGCAGGATGTGCGCAGTCCCAAGTCAAGGCTGTGCCGTGACTTGTTTTTCTCCGGAGCTGTGTGAACCAAACACTGGGCTGATCGCTCAAAATGAGCAACACAGGAAACAGTCCAGACTAAAGCCAAACTGCTGCAGTTTCTAAATCTGCCGACCCAGAACCTATTTCCCCAACCCAAGAGACCCAGCACTTGGTTTAAGCCCTTGGTGCGGCCCAAGCCCGCAGTTACCAGCAGCACCAGCGGTGGGCAGCCAATGAGTGCGATGGCTGTGGAGAGTTTCCGCTTGTTGCCCCCACTGTACGTGCCAGCCAGGCAGTCGGCGTAGACAGTCAGGCCCAGGCTCTTAATACTCCAGTTTGCAACCTAGGGAAGAGAAAGAAATGCCATTTGGAGAAGACAAGCAAACACCCCAAACCTCCCCCAGTTCAAAGCCTTGGGCTCCCAGATCTCACGCCTCCAGAATGAAATCCCCAGCTAGGCTGAAACAGGCTCCTGCTGGCTCCTGTCCTCTGGCATGTGCTTCAGGCGCCAGACAGGGGCTCTTTCTCTCTGTGTCTTGGATCCCAGGGTGGCCCAGCCTGCTCAGCATCTGTTGGGTGTAGCCGCCTGGGAAATGGACTTCAGCCTTACAAAGAGCAAGACAGTGGGTCTCGCCCAGCGTCCTGGACCATGGCTAGCAGTGGAGGAGGAAGGCTCTGTTTGAGAAGATGGTGAGTCCCAGACCTGTTGATCCCACCCGTCAAGAGGGTTACACCCAAAGCCTTGTGCATCCGACACATACCTATGGAGCACTGACCATACGCCAGGCACTGAACCAGGCACTGGAGAACAATGTGAACACAGCCATTGCTGCTATCCTCAGACTGCGGGGAGGTGGCAGTCAAAATAAACAGAATACTGGCAGATCGTGACAGTGCTGTGAGGGAACGATGACAGAGACACCAGGTGTGTGTGCACATGCGCAGGAGGGGATCTAGGGAAGCCACTGGAGACAAGCTCACCATGCTTCTGCCTTCTATACTAGTCCCCCGTGCCTGGAATGTTCCTCCCTAGGTGTGCACGTGGCTCCTTCTCTCACCTCTAGTTCTTCATTCAGGTTCTCTCCTCTGCAGGCTCTCCCTGGGCCACCCTACCTCAAAATGCAAACCCTGCCCCAGCAGTTCCTCCCTGCGTTACTTTTCCCTGAGGACTTTTCACTCTCTAATGTACTGGATATTTTACCTATTTATCTACAGATCGTCTATCCCTCCCACTAGAATGTAATCTCCATTTTTAACTTTTTATTTGGAAATAGTTTCAAACTCACACAAACATATAGGAATAAAAATAGTTCATAGAATTATTAACTAATAAAACCCTTCTCTCTCTCACACACAATTTTTTGTGACCCATTTGAGGGTAAATTACTCATCACAGCCCTTCACTCCTAAATACTTCAGGGCATATTTCCTAAGAATAGAGATCTTCTCTTACATAACCACAGTACATTATCAATGTCAGTAAACTTAATGTTATGATACATTTACCTAATCTACTGTTCATAGTTCAGTTTTGTCAGTTGGTCCAATAATATCCTTCTATCATTTTTTTTCTCTTCTGCACAAGATGTAGTCTATTGTCTGCTATTCAGTCATTATGCCTGTTTAGCCTCCTGCGATCAGAGATATTTCCATAGCTCTTTCTTTGTCTTTTATGACTCTTATGTTTTTGAAGAATACAGTCTCCTTTTTTTTTTTTTAAGGAATATTCCTTCTTTGGAGCTTGTCAGATGTTTCCTCATGATAAGATTCAGGTTACATATCTCCAATCTGGATTCTACATAAGTGAAATTGTGTCCTTCACAGGGTATCACATCTCGGGGCATGAGATGTCCATCTGCCCCTTATGGTTAATTTTGATCACCCAGTTAAGGTGCTGTCTAATTTCTCCATTGTAAAATTATTATGTTTCTCCCATGTAACCAATAAGCAATCTGTACAGAGTTACTTTTATTTCTTTAAAATTATATTATTATTATTTTAAGAGACAGAGTCTTGCTCTGTTTCCCAGGCTGGAGAGCAGTGGCTTGATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCATTCCTCCCACCTCAGCCACCTGAGTAGCTGGGACTATAGGCGTGCACCACCAGGCCCAGCTAATTTGTTTGCTAATTTTTTGTAGAGACAGGGTCTCCCTATGTTGCACAGGCTAATCTGGAACTCCTGGGCTCAAGCGATCTTCCTACCTTGGCCTCCCAAAGTGCTGCGATTACAGGTGTGAGCCACCATGCCCAGCCCCTTATTTTTTTTTTAAAAGCACTTCCTTACTTTCTGGCATAAGATATTCCAGGTTCAT
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TTCTATAGATATCTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAAGTGTTTGTTAAATAAATGAGTAATTGTAACTCTGCTCTTTTCTAGGTTATAAAGCATATCAGAACGTGAATGAGCACGGCAATATGCTGATAATCTTAAACTGTTAGCTTTGGCATGCAAACTCTTAATAATAAGGAATTATCTACAATAGTTTACAATGTGTGGGTACAGGATAAGGATAATCCTATTCAAGATTACTGCCATTGTTGGTTTGTCATATAACATATGGTCTTTTTTCAAACTCAAAAGCATACAATATTCTAAAAACAAAGATGGGTCCTCAAGTCAGTTGGTCTCCTAACCATTCCTACATTGGAGTGGACTCTTAGTAAATAGGCCACAGGTCCCGGATCTGTTGAGATAAGTGGTGAAATATTGAGGCAGTGGTAGCAGCCCTCCCTCATCCCAGCCAGGCTCTGCATGCATCCTGATCAGATGCCCCATCCAGAGACTTGGGCGAGTCTTCGACCACAGGAAATTAGGCCAATATAGAGGAGTTTCTTATCAGCATGATGGCCTTCTCCATCTGCTGCTGGAGAATGAGGCCCAGCCACCACCTGCCTCTGCCCCAGGGGATGACGGAGCAGCAGGACTCTTCCAAGTGTCAATGGAGAACACAGGATCCAGGTGGATCCACAGAAGGCAACAAGGGGCACGCCCCACCATCTGCTTACTTGGACTTGAGATGCTGAATGGTGCCCATACATCGAAAGGCGCCCTTTACCATGATGGCCAGCCGGGTACACAGTGCCTCACATTCTTCCATGCTGTGGGGCAGGAGAGAGGAGGTGAGCAGGAGAGGATTCCCACCCACCTTCCCCAGCCCTGGGAATCTCTTGCCTGTGGGATGTGAGGACCACAGCCCTCCCTTCTCTGATGATGCTCACGATGACGTTCCACAGCATGCGGCGTGCCTGGGGGTCCATCCCTGTGGTGGGCTCATCCTGGGGGGTGGAGAGAAGGTTGGGGGCACAGGCTGGGAGCTGGCCCTTCTGATTACTGCTTCCCCCTGGGCTGGCTCCCCTGTGGAGGATGAGCTGACAGAAGGCGCACACAGTCACTCCCCTCACTTGAGCAAGACAGGGGTACCCTGGTGTAGGGTAGGGAAGGCAGGAGGTGGATCCAAGAGTAAAGAAGCGTGGCGTCCATCCTGGGCCCATTTCAGCCCACGAGGGGATTAAAGTGGATTAAGGCAATGACAGAATTCTCCTCAAAAAAAGAAAATCCTGCAAATACATTTGTCAGAAGGCAGGGAGGTCACTCAGGTCACTTCCTTGGTTCCCGCTATGTCCTGTGCCCTCATGATCCTTGGGCTGCGTGGGCATGGCCTCAGGCCTGGCCTGGCTCAGCTCAGGAGCCTTTGACCCAGCTCAGTGCTCCTGTATGGGGACCAGACACCGACAGGCCGCAGAGTGGGCTGAACTTCCCGGCTGTGAGCCGATGGCCCCACAGGAGACATCCTGGGAACGCAGGATGTGCGCAGTCCCAAGTCAAGGCTGTGCCGTGACTTGTTTTTCTCCGGAGCTGTGTGAACCAAACACTGGGCTGATCGCTCAAAATGAGCAACACAGGAAACAGTCCAGACTAAAGCCAAACTGCTGCAGTTTCTAAATCTGCCGACCCAGAACCTATTTCCCCAACCCAAGAGACCCAGCACTTGGTTTAAGCCCTTGGTGCGGCCCAAGCCCGCAGTTACCAGCAGCACCAGCGGTGGGCAGCCAATGAGTGCGATGGCTGTGGAGAGTTTCCGCTTGTTGCCCCCACTGTACGTGCCAGCCAGGCAGTCGACGTAGACAGTCAGGCCCAGGCTCTTAATACTCCAGTTTGCAACCTAGGGAAGAGAAAGAAATGCCATTTGGAGAAGACAAGCAAACACCCCAAACCTCCCCCAGTTCAAAGCCTTGGGCTCCCAGATCTCACGCCTCCAGAATGAAATCCCCAGCTAGGCTGAAACAGGCTCCTGCTGGCTCCTGTCCTCTGGCATGTGCTTCAGGCGCCAGACAGGGGCTCTTTCTCTCTGTGTCTTGGATCCCAGGGTGGCCCAGCCTGCTCAGCATCTGTTGGGTGTAGCCGCCTGGGAAATGGACTTCAGCCTTACAAAGAGCAAGACAGTGGGTCTCGCCCAGCGTCCTGGACCATGGCTAGCAGTGGAGGAGGAAGGCTCTGTTTGAGAAGATGGTGAGTCCCAGACCTGTTGATCCCACCCGTCAAGAGGGTTACACCCAAAGCCTTGTGCATCCGACACATACCTATGGAGCACTGACCATACGCCAGGCACTGAACCAGGCACTGGAGAACAATGTGAACACAGCCATTGCTGCTATCCTCAGACTGCGGGGAGGTGGCAGTCAAAATAAACAGAATACTGGCAGATCGTGACAGTGCTGTGAGGGAACGATGACAGAGACACCAGGTGTGTGTGCACATGCGCAGGAGGGGATCTAGGGAAGCCACTGGAGACAAGCTCACCATGCTTCTGCCTTCTATACTAGTCCCCCGTGCCTGGAATGTTCCTCCCTAGGTGTGCACGTGGCTCCTTCTCTCACCTCTAGTTCTTCATTCAGGTTCTCTCCTCTGCAGGCTCTCCCTGGGCCACCCTACCTCAAAATGCAAACCCTGCCCCAGCAGTTCCTCCCTGCGTTACTTTTCCCTGAGGACTTTTCACTCTCTAATGTACTGGATATTTTACCTATTTATCTACAGATCGTCTATCCCTCCCACTAGAATGTAATCTCCATTTTTAACTTTTTATTTGGAAATAGTTTCAAACTCACACAAACATATAGGAATAAAAATAGTTCATAGAATTATTAACTAATAAAACCCTTCTCTCTCTCACACACAATTTTTTGTGACCCATTTGAGGGTAAATTACTCATCACAGCCCTTCACTCCTAAATACTTCAGGGCATATTTCCTAAGAATAGAGATCTTCTCTTACATAACCACAGTACATTATCAATGTCAGTAAACTTAATGTTATGATACATTTACCTAATCTACTGTTCATAGTTCAGTTTTGTCAGTTGGTCCAATAATATCCTTCTATCATTTTTTTTCTCTTCTGCACAAGATGTAGTCTATTGTCTGCTATTCAGTCATTATGCCTGTTTAGCCTCCTGCGATCAGAGATATTTCCATAGCTCTTTCTTTGTCTTTTATGACTCTTATGTTTTTGAAGAATACAGTCTCCTTTTTTTTTTTTTAAGGAATATTCCTTCTTTGGAGCTTGTCAGATGTTTCCTCATGATAAGATTCAGGTTACATATCTCCAATCTGGATTCTACATAAGTGAAATTGTGTCCTTCACAGGGTATCACATCTCGGGGCATGAGATGTCCATCTGCCCCTTATGGTTAATTTTGATCACCCAGTTAAGGTGCTGTCTAATTTCTCCATTGTAAAATTATTATGTTTCTCCCATGTAACCAATAAGCAATCTGTACAGAGTTACTTTTATTTCTTTAAAATTATATTATTATTATTTTAAGAGACAGAGTCTTGCTCTGTTTCCCAGGCTGGAGAGCAGTGGCTTGATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCATTCCTCCCACCTCAGCCACCTGAGTAGCTGGGACTATAGGCGTGCACCACCAGGCCCAGCTAATTTGTTTGCTAATTTTTTGTAGAGACAGGGTCTCCCTATGTTGCACAGGCTAATCTGGAACTCCTGGGCTCAAGCGATCTTCCTACCTTGGCCTCCCAAAGTGCTGCGATTACAGGTGTGAGCCACCATGCCCAGCCCCTTATTTTTTTTTTAAAAGCACTTCCTTACTTTCTGGCATAAGATATTCCAGGTTCAT
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Task1_train_1117
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Here’s a variant in ABCA4 (ATP binding cassette subfamily A member 4) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Severe early-childhood-onset retinal dystrophy
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TTCTATAGATATCTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAAGTGTTTGTTAAATAAATGAGTAATTGTAACTCTGCTCTTTTCTAGGTTATAAAGCATATCAGAACGTGAATGAGCACGGCAATATGCTGATAATCTTAAACTGTTAGCTTTGGCATGCAAACTCTTAATAATAAGGAATTATCTACAATAGTTTACAATGTGTGGGTACAGGATAAGGATAATCCTATTCAAGATTACTGCCATTGTTGGTTTGTCATATAACATATGGTCTTTTTTCAAACTCAAAAGCATACAATATTCTAAAAACAAAGATGGGTCCTCAAGTCAGTTGGTCTCCTAACCATTCCTACATTGGAGTGGACTCTTAGTAAATAGGCCACAGGTCCCGGATCTGTTGAGATAAGTGGTGAAATATTGAGGCAGTGGTAGCAGCCCTCCCTCATCCCAGCCAGGCTCTGCATGCATCCTGATCAGATGCCCCATCCAGAGACTTGGGCGAGTCTTCGACCACAGGAAATTAGGCCAATATAGAGGAGTTTCTTATCAGCATGATGGCCTTCTCCATCTGCTGCTGGAGAATGAGGCCCAGCCACCACCTGCCTCTGCCCCAGGGGATGACGGAGCAGCAGGACTCTTCCAAGTGTCAATGGAGAACACAGGATCCAGGTGGATCCACAGAAGGCAACAAGGGGCACGCCCCACCATCTGCTTACTTGGACTTGAGATGCTGAATGGTGCCCATACATCGAAAGGCGCCCTTTACCATGATGGCCAGCCGGGTACACAGTGCCTCACATTCTTCCATGCTGTGGGGCAGGAGAGAGGAGGTGAGCAGGAGAGGATTCCCACCCACCTTCCCCAGCCCTGGGAATCTCTTGCCTGTGGGATGTGAGGACCACAGCCCTCCCTTCTCTGATGATGCTCACGATGACGTTCCACAGCATGCGGCGTGCCTGGGGGTCCATCCCTGTGGTGGGCTCATCCTGGGGGGTGGAGAGAAGGTTGGGGGCACAGGCTGGGAGCTGGCCCTTCTGATTACTGCTTCCCCCTGGGCTGGCTCCCCTGTGGAGGATGAGCTGACAGAAGGCGCACACAGTCACTCCCCTCACTTGAGCAAGACAGGGGTACCCTGGTGTAGGGTAGGGAAGGCAGGAGGTGGATCCAAGAGTAAAGAAGCGTGGCGTCCATCCTGGGCCCATTTCAGCCCACGAGGGGATTAAAGTGGATTAAGGCAATGACAGAATTCTCCTCAAAAAAAGAAAATCCTGCAAATACATTTGTCAGAAGGCAGGGAGGTCACTCAGGTCACTTCCTTGGTTCCCGCTATGTCCTGTGCCCTCATGATCCTTGGGCTGCGTGGGCATGGCCTCAGGCCTGGCCTGGCTCAGCTCAGGAGCCTTTGACCCAGCTCAGTGCTCCTGTATGGGGACCAGACACCGACAGGCCGCAGAGTGGGCTGAACTTCCCGGCTGTGAGCCGATGGCCCCACAGGAGACATCCTGGGAACGCAGGATGTGCGCAGTCCCAAGTCAAGGCTGTGCCGTGACTTGTTTTTCTCCGGAGCTGTGTGAACCAAACACTGGGCTGATCGCTCAAAATGAGCAACACAGGAAACAGTCCAGACTAAAGCCAAACTGCTGCAGTTTCTAAATCTGCCGACCCAGAACCTATTTCCCCAACCCAAGAGACCCAGCACTTGGTTTAAGCCCTTGGTGCGGCCCAAGCCCGCAGTTACCAGCAGCACCAGCGGTGGGCAGCCAATGAGTGCGATGGCTGTGGAGAGTTTCCGCTTGTTGCCCCCACTGTACGTGCCAGCCAGGCAGTCGGCGTAGACAGTCAGGCCCAGGCTCTTAATACTCCAGTTTGCAACCTAGGGAAGAGAAAGAAATGCCATTTGGAGAAGACAAGCAAACACCCCAAACCTCCCCCAGTTCAAAGCCTTGGGCTCCCAGATCTCACGCCTCCAGAATGAAATCCCCAGCTAGGCTGAAACAGGCTCCTGCTGGCTCCTGTCCTCTGGCATGTGCTTCAGGCGCCAGACAGGGGCTCTTTCTCTCTGTGTCTTGGATCCCAGGGTGGCCCAGCCTGCTCAGCATCTGTTGGGTGTAGCCGCCTGGGAAATGGACTTCAGCCTTACAAAGAGCAAGACAGTGGGTCTCGCCCAGCGTCCTGGACCATGGCTAGCAGTGGAGGAGGAAGGCTCTGTTTGAGAAGATGGTGAGTCCCAGACCTGTTGATCCCACCCGTCAAGAGGGTTACACCCAAAGCCTTGTGCATCCGACACATACCTATGGAGCACTGACCATACGCCAGGCACTGAACCAGGCACTGGAGAACAATGTGAACACAGCCATTGCTGCTATCCTCAGACTGCGGGGAGGTGGCAGTCAAAATAAACAGAATACTGGCAGATCGTGACAGTGCTGTGAGGGAACGATGACAGAGACACCAGGTGTGTGTGCACATGCGCAGGAGGGGATCTAGGGAAGCCACTGGAGACAAGCTCACCATGCTTCTGCCTTCTATACTAGTCCCCCGTGCCTGGAATGTTCCTCCCTAGGTGTGCACGTGGCTCCTTCTCTCACCTCTAGTTCTTCATTCAGGTTCTCTCCTCTGCAGGCTCTCCCTGGGCCACCCTACCTCAAAATGCAAACCCTGCCCCAGCAGTTCCTCCCTGCGTTACTTTTCCCTGAGGACTTTTCACTCTCTAATGTACTGGATATTTTACCTATTTATCTACAGATCGTCTATCCCTCCCACTAGAATGTAATCTCCATTTTTAACTTTTTATTTGGAAATAGTTTCAAACTCACACAAACATATAGGAATAAAAATAGTTCATAGAATTATTAACTAATAAAACCCTTCTCTCTCTCACACACAATTTTTTGTGACCCATTTGAGGGTAAATTACTCATCACAGCCCTTCACTCCTAAATACTTCAGGGCATATTTCCTAAGAATAGAGATCTTCTCTTACATAACCACAGTACATTATCAATGTCAGTAAACTTAATGTTATGATACATTTACCTAATCTACTGTTCATAGTTCAGTTTTGTCAGTTGGTCCAATAATATCCTTCTATCATTTTTTTTCTCTTCTGCACAAGATGTAGTCTATTGTCTGCTATTCAGTCATTATGCCTGTTTAGCCTCCTGCGATCAGAGATATTTCCATAGCTCTTTCTTTGTCTTTTATGACTCTTATGTTTTTGAAGAATACAGTCTCCTTTTTTTTTTTTTAAGGAATATTCCTTCTTTGGAGCTTGTCAGATGTTTCCTCATGATAAGATTCAGGTTACATATCTCCAATCTGGATTCTACATAAGTGAAATTGTGTCCTTCACAGGGTATCACATCTCGGGGCATGAGATGTCCATCTGCCCCTTATGGTTAATTTTGATCACCCAGTTAAGGTGCTGTCTAATTTCTCCATTGTAAAATTATTATGTTTCTCCCATGTAACCAATAAGCAATCTGTACAGAGTTACTTTTATTTCTTTAAAATTATATTATTATTATTTTAAGAGACAGAGTCTTGCTCTGTTTCCCAGGCTGGAGAGCAGTGGCTTGATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCATTCCTCCCACCTCAGCCACCTGAGTAGCTGGGACTATAGGCGTGCACCACCAGGCCCAGCTAATTTGTTTGCTAATTTTTTGTAGAGACAGGGTCTCCCTATGTTGCACAGGCTAATCTGGAACTCCTGGGCTCAAGCGATCTTCCTACCTTGGCCTCCCAAAGTGCTGCGATTACAGGTGTGAGCCACCATGCCCAGCCCCTTATTTTTTTTTTAAAAGCACTTCCTTACTTTCTGGCATAAGATATTCCAGGTTCAT
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TTCTATAGATATCTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAAGTGTTTGTTAAATAAATGAGTAATTGTAACTCTGCTCTTTTCTAGGTTATAAAGCATATCAGAACGTGAATGAGCACGGCAATATGCTGATAATCTTAAACTGTTAGCTTTGGCATGCAAACTCTTAATAATAAGGAATTATCTACAATAGTTTACAATGTGTGGGTACAGGATAAGGATAATCCTATTCAAGATTACTGCCATTGTTGGTTTGTCATATAACATATGGTCTTTTTTCAAACTCAAAAGCATACAATATTCTAAAAACAAAGATGGGTCCTCAAGTCAGTTGGTCTCCTAACCATTCCTACATTGGAGTGGACTCTTAGTAAATAGGCCACAGGTCCCGGATCTGTTGAGATAAGTGGTGAAATATTGAGGCAGTGGTAGCAGCCCTCCCTCATCCCAGCCAGGCTCTGCATGCATCCTGATCAGATGCCCCATCCAGAGACTTGGGCGAGTCTTCGACCACAGGAAATTAGGCCAATATAGAGGAGTTTCTTATCAGCATGATGGCCTTCTCCATCTGCTGCTGGAGAATGAGGCCCAGCCACCACCTGCCTCTGCCCCAGGGGATGACGGAGCAGCAGGACTCTTCCAAGTGTCAATGGAGAACACAGGATCCAGGTGGATCCACAGAAGGCAACAAGGGGCACGCCCCACCATCTGCTTACTTGGACTTGAGATGCTGAATGGTGCCCATACATCGAAAGGCGCCCTTTACCATGATGGCCAGCCGGGTACACAGTGCCTCACATTCTTCCATGCTGTGGGGCAGGAGAGAGGAGGTGAGCAGGAGAGGATTCCCACCCACCTTCCCCAGCCCTGGGAATCTCTTGCCTGTGGGATGTGAGGACCACAGCCCTCCCTTCTCTGATGATGCTCACGATGACGTTCCACAGCATGCGGCGTGCCTGGGGGTCCATCCCTGTGGTGGGCTCATCCTGGGGGGTGGAGAGAAGGTTGGGGGCACAGGCTGGGAGCTGGCCCTTCTGATTACTGCTTCCCCCTGGGCTGGCTCCCCTGTGGAGGATGAGCTGACAGAAGGCGCACACAGTCACTCCCCTCACTTGAGCAAGACAGGGGTACCCTGGTGTAGGGTAGGGAAGGCAGGAGGTGGATCCAAGAGTAAAGAAGCGTGGCGTCCATCCTGGGCCCATTTCAGCCCACGAGGGGATTAAAGTGGATTAAGGCAATGACAGAATTCTCCTCAAAAAAAGAAAATCCTGCAAATACATTTGTCAGAAGGCAGGGAGGTCACTCAGGTCACTTCCTTGGTTCCCGCTATGTCCTGTGCCCTCATGATCCTTGGGCTGCGTGGGCATGGCCTCAGGCCTGGCCTGGCTCAGCTCAGGAGCCTTTGACCCAGCTCAGTGCTCCTGTATGGGGACCAGACACCGACAGGCCGCAGAGTGGGCTGAACTTCCCGGCTGTGAGCCGATGGCCCCACAGGAGACATCCTGGGAACGCAGGATGTGCGCAGTCCCAAGTCAAGGCTGTGCCGTGACTTGTTTTTCTCCGGAGCTGTGTGAACCAAACACTGGGCTGATCGCTCAAAATGAGCAACACAGGAAACAGTCCAGACTAAAGCCAAACTGCTGCAGTTTCTAAATCTGCCGACCCAGAACCTATTTCCCCAACCCAAGAGACCCAGCACTTGGTTTAAGCCCTTGGTGCGGCCCAAGCCCGCAGTTACCAGCAGCACCAGCGGTGGGCAGCCAATGAGTGCGATGGCTGTGGAGAGTTTCCGCTTGTTGCCCCCACTGTACGTGCCAGCCAGGCAGTCGACGTAGACAGTCAGGCCCAGGCTCTTAATACTCCAGTTTGCAACCTAGGGAAGAGAAAGAAATGCCATTTGGAGAAGACAAGCAAACACCCCAAACCTCCCCCAGTTCAAAGCCTTGGGCTCCCAGATCTCACGCCTCCAGAATGAAATCCCCAGCTAGGCTGAAACAGGCTCCTGCTGGCTCCTGTCCTCTGGCATGTGCTTCAGGCGCCAGACAGGGGCTCTTTCTCTCTGTGTCTTGGATCCCAGGGTGGCCCAGCCTGCTCAGCATCTGTTGGGTGTAGCCGCCTGGGAAATGGACTTCAGCCTTACAAAGAGCAAGACAGTGGGTCTCGCCCAGCGTCCTGGACCATGGCTAGCAGTGGAGGAGGAAGGCTCTGTTTGAGAAGATGGTGAGTCCCAGACCTGTTGATCCCACCCGTCAAGAGGGTTACACCCAAAGCCTTGTGCATCCGACACATACCTATGGAGCACTGACCATACGCCAGGCACTGAACCAGGCACTGGAGAACAATGTGAACACAGCCATTGCTGCTATCCTCAGACTGCGGGGAGGTGGCAGTCAAAATAAACAGAATACTGGCAGATCGTGACAGTGCTGTGAGGGAACGATGACAGAGACACCAGGTGTGTGTGCACATGCGCAGGAGGGGATCTAGGGAAGCCACTGGAGACAAGCTCACCATGCTTCTGCCTTCTATACTAGTCCCCCGTGCCTGGAATGTTCCTCCCTAGGTGTGCACGTGGCTCCTTCTCTCACCTCTAGTTCTTCATTCAGGTTCTCTCCTCTGCAGGCTCTCCCTGGGCCACCCTACCTCAAAATGCAAACCCTGCCCCAGCAGTTCCTCCCTGCGTTACTTTTCCCTGAGGACTTTTCACTCTCTAATGTACTGGATATTTTACCTATTTATCTACAGATCGTCTATCCCTCCCACTAGAATGTAATCTCCATTTTTAACTTTTTATTTGGAAATAGTTTCAAACTCACACAAACATATAGGAATAAAAATAGTTCATAGAATTATTAACTAATAAAACCCTTCTCTCTCTCACACACAATTTTTTGTGACCCATTTGAGGGTAAATTACTCATCACAGCCCTTCACTCCTAAATACTTCAGGGCATATTTCCTAAGAATAGAGATCTTCTCTTACATAACCACAGTACATTATCAATGTCAGTAAACTTAATGTTATGATACATTTACCTAATCTACTGTTCATAGTTCAGTTTTGTCAGTTGGTCCAATAATATCCTTCTATCATTTTTTTTCTCTTCTGCACAAGATGTAGTCTATTGTCTGCTATTCAGTCATTATGCCTGTTTAGCCTCCTGCGATCAGAGATATTTCCATAGCTCTTTCTTTGTCTTTTATGACTCTTATGTTTTTGAAGAATACAGTCTCCTTTTTTTTTTTTTAAGGAATATTCCTTCTTTGGAGCTTGTCAGATGTTTCCTCATGATAAGATTCAGGTTACATATCTCCAATCTGGATTCTACATAAGTGAAATTGTGTCCTTCACAGGGTATCACATCTCGGGGCATGAGATGTCCATCTGCCCCTTATGGTTAATTTTGATCACCCAGTTAAGGTGCTGTCTAATTTCTCCATTGTAAAATTATTATGTTTCTCCCATGTAACCAATAAGCAATCTGTACAGAGTTACTTTTATTTCTTTAAAATTATATTATTATTATTTTAAGAGACAGAGTCTTGCTCTGTTTCCCAGGCTGGAGAGCAGTGGCTTGATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCATTCCTCCCACCTCAGCCACCTGAGTAGCTGGGACTATAGGCGTGCACCACCAGGCCCAGCTAATTTGTTTGCTAATTTTTTGTAGAGACAGGGTCTCCCTATGTTGCACAGGCTAATCTGGAACTCCTGGGCTCAAGCGATCTTCCTACCTTGGCCTCCCAAAGTGCTGCGATTACAGGTGTGAGCCACCATGCCCAGCCCCTTATTTTTTTTTTAAAAGCACTTCCTTACTTTCTGGCATAAGATATTCCAGGTTCAT
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Task1_train_1118
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Mutation context: Chromosome 1, Gene ABCA4 (ATP binding cassette subfamily A member 4). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Age related macular degeneration 2
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TTCTATAGATATCTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAAGTGTTTGTTAAATAAATGAGTAATTGTAACTCTGCTCTTTTCTAGGTTATAAAGCATATCAGAACGTGAATGAGCACGGCAATATGCTGATAATCTTAAACTGTTAGCTTTGGCATGCAAACTCTTAATAATAAGGAATTATCTACAATAGTTTACAATGTGTGGGTACAGGATAAGGATAATCCTATTCAAGATTACTGCCATTGTTGGTTTGTCATATAACATATGGTCTTTTTTCAAACTCAAAAGCATACAATATTCTAAAAACAAAGATGGGTCCTCAAGTCAGTTGGTCTCCTAACCATTCCTACATTGGAGTGGACTCTTAGTAAATAGGCCACAGGTCCCGGATCTGTTGAGATAAGTGGTGAAATATTGAGGCAGTGGTAGCAGCCCTCCCTCATCCCAGCCAGGCTCTGCATGCATCCTGATCAGATGCCCCATCCAGAGACTTGGGCGAGTCTTCGACCACAGGAAATTAGGCCAATATAGAGGAGTTTCTTATCAGCATGATGGCCTTCTCCATCTGCTGCTGGAGAATGAGGCCCAGCCACCACCTGCCTCTGCCCCAGGGGATGACGGAGCAGCAGGACTCTTCCAAGTGTCAATGGAGAACACAGGATCCAGGTGGATCCACAGAAGGCAACAAGGGGCACGCCCCACCATCTGCTTACTTGGACTTGAGATGCTGAATGGTGCCCATACATCGAAAGGCGCCCTTTACCATGATGGCCAGCCGGGTACACAGTGCCTCACATTCTTCCATGCTGTGGGGCAGGAGAGAGGAGGTGAGCAGGAGAGGATTCCCACCCACCTTCCCCAGCCCTGGGAATCTCTTGCCTGTGGGATGTGAGGACCACAGCCCTCCCTTCTCTGATGATGCTCACGATGACGTTCCACAGCATGCGGCGTGCCTGGGGGTCCATCCCTGTGGTGGGCTCATCCTGGGGGGTGGAGAGAAGGTTGGGGGCACAGGCTGGGAGCTGGCCCTTCTGATTACTGCTTCCCCCTGGGCTGGCTCCCCTGTGGAGGATGAGCTGACAGAAGGCGCACACAGTCACTCCCCTCACTTGAGCAAGACAGGGGTACCCTGGTGTAGGGTAGGGAAGGCAGGAGGTGGATCCAAGAGTAAAGAAGCGTGGCGTCCATCCTGGGCCCATTTCAGCCCACGAGGGGATTAAAGTGGATTAAGGCAATGACAGAATTCTCCTCAAAAAAAGAAAATCCTGCAAATACATTTGTCAGAAGGCAGGGAGGTCACTCAGGTCACTTCCTTGGTTCCCGCTATGTCCTGTGCCCTCATGATCCTTGGGCTGCGTGGGCATGGCCTCAGGCCTGGCCTGGCTCAGCTCAGGAGCCTTTGACCCAGCTCAGTGCTCCTGTATGGGGACCAGACACCGACAGGCCGCAGAGTGGGCTGAACTTCCCGGCTGTGAGCCGATGGCCCCACAGGAGACATCCTGGGAACGCAGGATGTGCGCAGTCCCAAGTCAAGGCTGTGCCGTGACTTGTTTTTCTCCGGAGCTGTGTGAACCAAACACTGGGCTGATCGCTCAAAATGAGCAACACAGGAAACAGTCCAGACTAAAGCCAAACTGCTGCAGTTTCTAAATCTGCCGACCCAGAACCTATTTCCCCAACCCAAGAGACCCAGCACTTGGTTTAAGCCCTTGGTGCGGCCCAAGCCCGCAGTTACCAGCAGCACCAGCGGTGGGCAGCCAATGAGTGCGATGGCTGTGGAGAGTTTCCGCTTGTTGCCCCCACTGTACGTGCCAGCCAGGCAGTCGGCGTAGACAGTCAGGCCCAGGCTCTTAATACTCCAGTTTGCAACCTAGGGAAGAGAAAGAAATGCCATTTGGAGAAGACAAGCAAACACCCCAAACCTCCCCCAGTTCAAAGCCTTGGGCTCCCAGATCTCACGCCTCCAGAATGAAATCCCCAGCTAGGCTGAAACAGGCTCCTGCTGGCTCCTGTCCTCTGGCATGTGCTTCAGGCGCCAGACAGGGGCTCTTTCTCTCTGTGTCTTGGATCCCAGGGTGGCCCAGCCTGCTCAGCATCTGTTGGGTGTAGCCGCCTGGGAAATGGACTTCAGCCTTACAAAGAGCAAGACAGTGGGTCTCGCCCAGCGTCCTGGACCATGGCTAGCAGTGGAGGAGGAAGGCTCTGTTTGAGAAGATGGTGAGTCCCAGACCTGTTGATCCCACCCGTCAAGAGGGTTACACCCAAAGCCTTGTGCATCCGACACATACCTATGGAGCACTGACCATACGCCAGGCACTGAACCAGGCACTGGAGAACAATGTGAACACAGCCATTGCTGCTATCCTCAGACTGCGGGGAGGTGGCAGTCAAAATAAACAGAATACTGGCAGATCGTGACAGTGCTGTGAGGGAACGATGACAGAGACACCAGGTGTGTGTGCACATGCGCAGGAGGGGATCTAGGGAAGCCACTGGAGACAAGCTCACCATGCTTCTGCCTTCTATACTAGTCCCCCGTGCCTGGAATGTTCCTCCCTAGGTGTGCACGTGGCTCCTTCTCTCACCTCTAGTTCTTCATTCAGGTTCTCTCCTCTGCAGGCTCTCCCTGGGCCACCCTACCTCAAAATGCAAACCCTGCCCCAGCAGTTCCTCCCTGCGTTACTTTTCCCTGAGGACTTTTCACTCTCTAATGTACTGGATATTTTACCTATTTATCTACAGATCGTCTATCCCTCCCACTAGAATGTAATCTCCATTTTTAACTTTTTATTTGGAAATAGTTTCAAACTCACACAAACATATAGGAATAAAAATAGTTCATAGAATTATTAACTAATAAAACCCTTCTCTCTCTCACACACAATTTTTTGTGACCCATTTGAGGGTAAATTACTCATCACAGCCCTTCACTCCTAAATACTTCAGGGCATATTTCCTAAGAATAGAGATCTTCTCTTACATAACCACAGTACATTATCAATGTCAGTAAACTTAATGTTATGATACATTTACCTAATCTACTGTTCATAGTTCAGTTTTGTCAGTTGGTCCAATAATATCCTTCTATCATTTTTTTTCTCTTCTGCACAAGATGTAGTCTATTGTCTGCTATTCAGTCATTATGCCTGTTTAGCCTCCTGCGATCAGAGATATTTCCATAGCTCTTTCTTTGTCTTTTATGACTCTTATGTTTTTGAAGAATACAGTCTCCTTTTTTTTTTTTTAAGGAATATTCCTTCTTTGGAGCTTGTCAGATGTTTCCTCATGATAAGATTCAGGTTACATATCTCCAATCTGGATTCTACATAAGTGAAATTGTGTCCTTCACAGGGTATCACATCTCGGGGCATGAGATGTCCATCTGCCCCTTATGGTTAATTTTGATCACCCAGTTAAGGTGCTGTCTAATTTCTCCATTGTAAAATTATTATGTTTCTCCCATGTAACCAATAAGCAATCTGTACAGAGTTACTTTTATTTCTTTAAAATTATATTATTATTATTTTAAGAGACAGAGTCTTGCTCTGTTTCCCAGGCTGGAGAGCAGTGGCTTGATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCATTCCTCCCACCTCAGCCACCTGAGTAGCTGGGACTATAGGCGTGCACCACCAGGCCCAGCTAATTTGTTTGCTAATTTTTTGTAGAGACAGGGTCTCCCTATGTTGCACAGGCTAATCTGGAACTCCTGGGCTCAAGCGATCTTCCTACCTTGGCCTCCCAAAGTGCTGCGATTACAGGTGTGAGCCACCATGCCCAGCCCCTTATTTTTTTTTTAAAAGCACTTCCTTACTTTCTGGCATAAGATATTCCAGGTTCAT
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TTCTATAGATATCTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAAGTGTTTGTTAAATAAATGAGTAATTGTAACTCTGCTCTTTTCTAGGTTATAAAGCATATCAGAACGTGAATGAGCACGGCAATATGCTGATAATCTTAAACTGTTAGCTTTGGCATGCAAACTCTTAATAATAAGGAATTATCTACAATAGTTTACAATGTGTGGGTACAGGATAAGGATAATCCTATTCAAGATTACTGCCATTGTTGGTTTGTCATATAACATATGGTCTTTTTTCAAACTCAAAAGCATACAATATTCTAAAAACAAAGATGGGTCCTCAAGTCAGTTGGTCTCCTAACCATTCCTACATTGGAGTGGACTCTTAGTAAATAGGCCACAGGTCCCGGATCTGTTGAGATAAGTGGTGAAATATTGAGGCAGTGGTAGCAGCCCTCCCTCATCCCAGCCAGGCTCTGCATGCATCCTGATCAGATGCCCCATCCAGAGACTTGGGCGAGTCTTCGACCACAGGAAATTAGGCCAATATAGAGGAGTTTCTTATCAGCATGATGGCCTTCTCCATCTGCTGCTGGAGAATGAGGCCCAGCCACCACCTGCCTCTGCCCCAGGGGATGACGGAGCAGCAGGACTCTTCCAAGTGTCAATGGAGAACACAGGATCCAGGTGGATCCACAGAAGGCAACAAGGGGCACGCCCCACCATCTGCTTACTTGGACTTGAGATGCTGAATGGTGCCCATACATCGAAAGGCGCCCTTTACCATGATGGCCAGCCGGGTACACAGTGCCTCACATTCTTCCATGCTGTGGGGCAGGAGAGAGGAGGTGAGCAGGAGAGGATTCCCACCCACCTTCCCCAGCCCTGGGAATCTCTTGCCTGTGGGATGTGAGGACCACAGCCCTCCCTTCTCTGATGATGCTCACGATGACGTTCCACAGCATGCGGCGTGCCTGGGGGTCCATCCCTGTGGTGGGCTCATCCTGGGGGGTGGAGAGAAGGTTGGGGGCACAGGCTGGGAGCTGGCCCTTCTGATTACTGCTTCCCCCTGGGCTGGCTCCCCTGTGGAGGATGAGCTGACAGAAGGCGCACACAGTCACTCCCCTCACTTGAGCAAGACAGGGGTACCCTGGTGTAGGGTAGGGAAGGCAGGAGGTGGATCCAAGAGTAAAGAAGCGTGGCGTCCATCCTGGGCCCATTTCAGCCCACGAGGGGATTAAAGTGGATTAAGGCAATGACAGAATTCTCCTCAAAAAAAGAAAATCCTGCAAATACATTTGTCAGAAGGCAGGGAGGTCACTCAGGTCACTTCCTTGGTTCCCGCTATGTCCTGTGCCCTCATGATCCTTGGGCTGCGTGGGCATGGCCTCAGGCCTGGCCTGGCTCAGCTCAGGAGCCTTTGACCCAGCTCAGTGCTCCTGTATGGGGACCAGACACCGACAGGCCGCAGAGTGGGCTGAACTTCCCGGCTGTGAGCCGATGGCCCCACAGGAGACATCCTGGGAACGCAGGATGTGCGCAGTCCCAAGTCAAGGCTGTGCCGTGACTTGTTTTTCTCCGGAGCTGTGTGAACCAAACACTGGGCTGATCGCTCAAAATGAGCAACACAGGAAACAGTCCAGACTAAAGCCAAACTGCTGCAGTTTCTAAATCTGCCGACCCAGAACCTATTTCCCCAACCCAAGAGACCCAGCACTTGGTTTAAGCCCTTGGTGCGGCCCAAGCCCGCAGTTACCAGCAGCACCAGCGGTGGGCAGCCAATGAGTGCGATGGCTGTGGAGAGTTTCCGCTTGTTGCCCCCACTGTACGTGCCAGCCAGGCAGTCGACGTAGACAGTCAGGCCCAGGCTCTTAATACTCCAGTTTGCAACCTAGGGAAGAGAAAGAAATGCCATTTGGAGAAGACAAGCAAACACCCCAAACCTCCCCCAGTTCAAAGCCTTGGGCTCCCAGATCTCACGCCTCCAGAATGAAATCCCCAGCTAGGCTGAAACAGGCTCCTGCTGGCTCCTGTCCTCTGGCATGTGCTTCAGGCGCCAGACAGGGGCTCTTTCTCTCTGTGTCTTGGATCCCAGGGTGGCCCAGCCTGCTCAGCATCTGTTGGGTGTAGCCGCCTGGGAAATGGACTTCAGCCTTACAAAGAGCAAGACAGTGGGTCTCGCCCAGCGTCCTGGACCATGGCTAGCAGTGGAGGAGGAAGGCTCTGTTTGAGAAGATGGTGAGTCCCAGACCTGTTGATCCCACCCGTCAAGAGGGTTACACCCAAAGCCTTGTGCATCCGACACATACCTATGGAGCACTGACCATACGCCAGGCACTGAACCAGGCACTGGAGAACAATGTGAACACAGCCATTGCTGCTATCCTCAGACTGCGGGGAGGTGGCAGTCAAAATAAACAGAATACTGGCAGATCGTGACAGTGCTGTGAGGGAACGATGACAGAGACACCAGGTGTGTGTGCACATGCGCAGGAGGGGATCTAGGGAAGCCACTGGAGACAAGCTCACCATGCTTCTGCCTTCTATACTAGTCCCCCGTGCCTGGAATGTTCCTCCCTAGGTGTGCACGTGGCTCCTTCTCTCACCTCTAGTTCTTCATTCAGGTTCTCTCCTCTGCAGGCTCTCCCTGGGCCACCCTACCTCAAAATGCAAACCCTGCCCCAGCAGTTCCTCCCTGCGTTACTTTTCCCTGAGGACTTTTCACTCTCTAATGTACTGGATATTTTACCTATTTATCTACAGATCGTCTATCCCTCCCACTAGAATGTAATCTCCATTTTTAACTTTTTATTTGGAAATAGTTTCAAACTCACACAAACATATAGGAATAAAAATAGTTCATAGAATTATTAACTAATAAAACCCTTCTCTCTCTCACACACAATTTTTTGTGACCCATTTGAGGGTAAATTACTCATCACAGCCCTTCACTCCTAAATACTTCAGGGCATATTTCCTAAGAATAGAGATCTTCTCTTACATAACCACAGTACATTATCAATGTCAGTAAACTTAATGTTATGATACATTTACCTAATCTACTGTTCATAGTTCAGTTTTGTCAGTTGGTCCAATAATATCCTTCTATCATTTTTTTTCTCTTCTGCACAAGATGTAGTCTATTGTCTGCTATTCAGTCATTATGCCTGTTTAGCCTCCTGCGATCAGAGATATTTCCATAGCTCTTTCTTTGTCTTTTATGACTCTTATGTTTTTGAAGAATACAGTCTCCTTTTTTTTTTTTTAAGGAATATTCCTTCTTTGGAGCTTGTCAGATGTTTCCTCATGATAAGATTCAGGTTACATATCTCCAATCTGGATTCTACATAAGTGAAATTGTGTCCTTCACAGGGTATCACATCTCGGGGCATGAGATGTCCATCTGCCCCTTATGGTTAATTTTGATCACCCAGTTAAGGTGCTGTCTAATTTCTCCATTGTAAAATTATTATGTTTCTCCCATGTAACCAATAAGCAATCTGTACAGAGTTACTTTTATTTCTTTAAAATTATATTATTATTATTTTAAGAGACAGAGTCTTGCTCTGTTTCCCAGGCTGGAGAGCAGTGGCTTGATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCATTCCTCCCACCTCAGCCACCTGAGTAGCTGGGACTATAGGCGTGCACCACCAGGCCCAGCTAATTTGTTTGCTAATTTTTTGTAGAGACAGGGTCTCCCTATGTTGCACAGGCTAATCTGGAACTCCTGGGCTCAAGCGATCTTCCTACCTTGGCCTCCCAAAGTGCTGCGATTACAGGTGTGAGCCACCATGCCCAGCCCCTTATTTTTTTTTTAAAAGCACTTCCTTACTTTCTGGCATAAGATATTCCAGGTTCAT
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Task1_train_1119
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Gene ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Cone-rod dystrophy 3
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TTCTATAGATATCTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAAGTGTTTGTTAAATAAATGAGTAATTGTAACTCTGCTCTTTTCTAGGTTATAAAGCATATCAGAACGTGAATGAGCACGGCAATATGCTGATAATCTTAAACTGTTAGCTTTGGCATGCAAACTCTTAATAATAAGGAATTATCTACAATAGTTTACAATGTGTGGGTACAGGATAAGGATAATCCTATTCAAGATTACTGCCATTGTTGGTTTGTCATATAACATATGGTCTTTTTTCAAACTCAAAAGCATACAATATTCTAAAAACAAAGATGGGTCCTCAAGTCAGTTGGTCTCCTAACCATTCCTACATTGGAGTGGACTCTTAGTAAATAGGCCACAGGTCCCGGATCTGTTGAGATAAGTGGTGAAATATTGAGGCAGTGGTAGCAGCCCTCCCTCATCCCAGCCAGGCTCTGCATGCATCCTGATCAGATGCCCCATCCAGAGACTTGGGCGAGTCTTCGACCACAGGAAATTAGGCCAATATAGAGGAGTTTCTTATCAGCATGATGGCCTTCTCCATCTGCTGCTGGAGAATGAGGCCCAGCCACCACCTGCCTCTGCCCCAGGGGATGACGGAGCAGCAGGACTCTTCCAAGTGTCAATGGAGAACACAGGATCCAGGTGGATCCACAGAAGGCAACAAGGGGCACGCCCCACCATCTGCTTACTTGGACTTGAGATGCTGAATGGTGCCCATACATCGAAAGGCGCCCTTTACCATGATGGCCAGCCGGGTACACAGTGCCTCACATTCTTCCATGCTGTGGGGCAGGAGAGAGGAGGTGAGCAGGAGAGGATTCCCACCCACCTTCCCCAGCCCTGGGAATCTCTTGCCTGTGGGATGTGAGGACCACAGCCCTCCCTTCTCTGATGATGCTCACGATGACGTTCCACAGCATGCGGCGTGCCTGGGGGTCCATCCCTGTGGTGGGCTCATCCTGGGGGGTGGAGAGAAGGTTGGGGGCACAGGCTGGGAGCTGGCCCTTCTGATTACTGCTTCCCCCTGGGCTGGCTCCCCTGTGGAGGATGAGCTGACAGAAGGCGCACACAGTCACTCCCCTCACTTGAGCAAGACAGGGGTACCCTGGTGTAGGGTAGGGAAGGCAGGAGGTGGATCCAAGAGTAAAGAAGCGTGGCGTCCATCCTGGGCCCATTTCAGCCCACGAGGGGATTAAAGTGGATTAAGGCAATGACAGAATTCTCCTCAAAAAAAGAAAATCCTGCAAATACATTTGTCAGAAGGCAGGGAGGTCACTCAGGTCACTTCCTTGGTTCCCGCTATGTCCTGTGCCCTCATGATCCTTGGGCTGCGTGGGCATGGCCTCAGGCCTGGCCTGGCTCAGCTCAGGAGCCTTTGACCCAGCTCAGTGCTCCTGTATGGGGACCAGACACCGACAGGCCGCAGAGTGGGCTGAACTTCCCGGCTGTGAGCCGATGGCCCCACAGGAGACATCCTGGGAACGCAGGATGTGCGCAGTCCCAAGTCAAGGCTGTGCCGTGACTTGTTTTTCTCCGGAGCTGTGTGAACCAAACACTGGGCTGATCGCTCAAAATGAGCAACACAGGAAACAGTCCAGACTAAAGCCAAACTGCTGCAGTTTCTAAATCTGCCGACCCAGAACCTATTTCCCCAACCCAAGAGACCCAGCACTTGGTTTAAGCCCTTGGTGCGGCCCAAGCCCGCAGTTACCAGCAGCACCAGCGGTGGGCAGCCAATGAGTGCGATGGCTGTGGAGAGTTTCCGCTTGTTGCCCCCACTGTACGTGCCAGCCAGGCAGTCGGCGTAGACAGTCAGGCCCAGGCTCTTAATACTCCAGTTTGCAACCTAGGGAAGAGAAAGAAATGCCATTTGGAGAAGACAAGCAAACACCCCAAACCTCCCCCAGTTCAAAGCCTTGGGCTCCCAGATCTCACGCCTCCAGAATGAAATCCCCAGCTAGGCTGAAACAGGCTCCTGCTGGCTCCTGTCCTCTGGCATGTGCTTCAGGCGCCAGACAGGGGCTCTTTCTCTCTGTGTCTTGGATCCCAGGGTGGCCCAGCCTGCTCAGCATCTGTTGGGTGTAGCCGCCTGGGAAATGGACTTCAGCCTTACAAAGAGCAAGACAGTGGGTCTCGCCCAGCGTCCTGGACCATGGCTAGCAGTGGAGGAGGAAGGCTCTGTTTGAGAAGATGGTGAGTCCCAGACCTGTTGATCCCACCCGTCAAGAGGGTTACACCCAAAGCCTTGTGCATCCGACACATACCTATGGAGCACTGACCATACGCCAGGCACTGAACCAGGCACTGGAGAACAATGTGAACACAGCCATTGCTGCTATCCTCAGACTGCGGGGAGGTGGCAGTCAAAATAAACAGAATACTGGCAGATCGTGACAGTGCTGTGAGGGAACGATGACAGAGACACCAGGTGTGTGTGCACATGCGCAGGAGGGGATCTAGGGAAGCCACTGGAGACAAGCTCACCATGCTTCTGCCTTCTATACTAGTCCCCCGTGCCTGGAATGTTCCTCCCTAGGTGTGCACGTGGCTCCTTCTCTCACCTCTAGTTCTTCATTCAGGTTCTCTCCTCTGCAGGCTCTCCCTGGGCCACCCTACCTCAAAATGCAAACCCTGCCCCAGCAGTTCCTCCCTGCGTTACTTTTCCCTGAGGACTTTTCACTCTCTAATGTACTGGATATTTTACCTATTTATCTACAGATCGTCTATCCCTCCCACTAGAATGTAATCTCCATTTTTAACTTTTTATTTGGAAATAGTTTCAAACTCACACAAACATATAGGAATAAAAATAGTTCATAGAATTATTAACTAATAAAACCCTTCTCTCTCTCACACACAATTTTTTGTGACCCATTTGAGGGTAAATTACTCATCACAGCCCTTCACTCCTAAATACTTCAGGGCATATTTCCTAAGAATAGAGATCTTCTCTTACATAACCACAGTACATTATCAATGTCAGTAAACTTAATGTTATGATACATTTACCTAATCTACTGTTCATAGTTCAGTTTTGTCAGTTGGTCCAATAATATCCTTCTATCATTTTTTTTCTCTTCTGCACAAGATGTAGTCTATTGTCTGCTATTCAGTCATTATGCCTGTTTAGCCTCCTGCGATCAGAGATATTTCCATAGCTCTTTCTTTGTCTTTTATGACTCTTATGTTTTTGAAGAATACAGTCTCCTTTTTTTTTTTTTAAGGAATATTCCTTCTTTGGAGCTTGTCAGATGTTTCCTCATGATAAGATTCAGGTTACATATCTCCAATCTGGATTCTACATAAGTGAAATTGTGTCCTTCACAGGGTATCACATCTCGGGGCATGAGATGTCCATCTGCCCCTTATGGTTAATTTTGATCACCCAGTTAAGGTGCTGTCTAATTTCTCCATTGTAAAATTATTATGTTTCTCCCATGTAACCAATAAGCAATCTGTACAGAGTTACTTTTATTTCTTTAAAATTATATTATTATTATTTTAAGAGACAGAGTCTTGCTCTGTTTCCCAGGCTGGAGAGCAGTGGCTTGATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCATTCCTCCCACCTCAGCCACCTGAGTAGCTGGGACTATAGGCGTGCACCACCAGGCCCAGCTAATTTGTTTGCTAATTTTTTGTAGAGACAGGGTCTCCCTATGTTGCACAGGCTAATCTGGAACTCCTGGGCTCAAGCGATCTTCCTACCTTGGCCTCCCAAAGTGCTGCGATTACAGGTGTGAGCCACCATGCCCAGCCCCTTATTTTTTTTTTAAAAGCACTTCCTTACTTTCTGGCATAAGATATTCCAGGTTCAT
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TTCTATAGATATCTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAAGTGTTTGTTAAATAAATGAGTAATTGTAACTCTGCTCTTTTCTAGGTTATAAAGCATATCAGAACGTGAATGAGCACGGCAATATGCTGATAATCTTAAACTGTTAGCTTTGGCATGCAAACTCTTAATAATAAGGAATTATCTACAATAGTTTACAATGTGTGGGTACAGGATAAGGATAATCCTATTCAAGATTACTGCCATTGTTGGTTTGTCATATAACATATGGTCTTTTTTCAAACTCAAAAGCATACAATATTCTAAAAACAAAGATGGGTCCTCAAGTCAGTTGGTCTCCTAACCATTCCTACATTGGAGTGGACTCTTAGTAAATAGGCCACAGGTCCCGGATCTGTTGAGATAAGTGGTGAAATATTGAGGCAGTGGTAGCAGCCCTCCCTCATCCCAGCCAGGCTCTGCATGCATCCTGATCAGATGCCCCATCCAGAGACTTGGGCGAGTCTTCGACCACAGGAAATTAGGCCAATATAGAGGAGTTTCTTATCAGCATGATGGCCTTCTCCATCTGCTGCTGGAGAATGAGGCCCAGCCACCACCTGCCTCTGCCCCAGGGGATGACGGAGCAGCAGGACTCTTCCAAGTGTCAATGGAGAACACAGGATCCAGGTGGATCCACAGAAGGCAACAAGGGGCACGCCCCACCATCTGCTTACTTGGACTTGAGATGCTGAATGGTGCCCATACATCGAAAGGCGCCCTTTACCATGATGGCCAGCCGGGTACACAGTGCCTCACATTCTTCCATGCTGTGGGGCAGGAGAGAGGAGGTGAGCAGGAGAGGATTCCCACCCACCTTCCCCAGCCCTGGGAATCTCTTGCCTGTGGGATGTGAGGACCACAGCCCTCCCTTCTCTGATGATGCTCACGATGACGTTCCACAGCATGCGGCGTGCCTGGGGGTCCATCCCTGTGGTGGGCTCATCCTGGGGGGTGGAGAGAAGGTTGGGGGCACAGGCTGGGAGCTGGCCCTTCTGATTACTGCTTCCCCCTGGGCTGGCTCCCCTGTGGAGGATGAGCTGACAGAAGGCGCACACAGTCACTCCCCTCACTTGAGCAAGACAGGGGTACCCTGGTGTAGGGTAGGGAAGGCAGGAGGTGGATCCAAGAGTAAAGAAGCGTGGCGTCCATCCTGGGCCCATTTCAGCCCACGAGGGGATTAAAGTGGATTAAGGCAATGACAGAATTCTCCTCAAAAAAAGAAAATCCTGCAAATACATTTGTCAGAAGGCAGGGAGGTCACTCAGGTCACTTCCTTGGTTCCCGCTATGTCCTGTGCCCTCATGATCCTTGGGCTGCGTGGGCATGGCCTCAGGCCTGGCCTGGCTCAGCTCAGGAGCCTTTGACCCAGCTCAGTGCTCCTGTATGGGGACCAGACACCGACAGGCCGCAGAGTGGGCTGAACTTCCCGGCTGTGAGCCGATGGCCCCACAGGAGACATCCTGGGAACGCAGGATGTGCGCAGTCCCAAGTCAAGGCTGTGCCGTGACTTGTTTTTCTCCGGAGCTGTGTGAACCAAACACTGGGCTGATCGCTCAAAATGAGCAACACAGGAAACAGTCCAGACTAAAGCCAAACTGCTGCAGTTTCTAAATCTGCCGACCCAGAACCTATTTCCCCAACCCAAGAGACCCAGCACTTGGTTTAAGCCCTTGGTGCGGCCCAAGCCCGCAGTTACCAGCAGCACCAGCGGTGGGCAGCCAATGAGTGCGATGGCTGTGGAGAGTTTCCGCTTGTTGCCCCCACTGTACGTGCCAGCCAGGCAGTCGACGTAGACAGTCAGGCCCAGGCTCTTAATACTCCAGTTTGCAACCTAGGGAAGAGAAAGAAATGCCATTTGGAGAAGACAAGCAAACACCCCAAACCTCCCCCAGTTCAAAGCCTTGGGCTCCCAGATCTCACGCCTCCAGAATGAAATCCCCAGCTAGGCTGAAACAGGCTCCTGCTGGCTCCTGTCCTCTGGCATGTGCTTCAGGCGCCAGACAGGGGCTCTTTCTCTCTGTGTCTTGGATCCCAGGGTGGCCCAGCCTGCTCAGCATCTGTTGGGTGTAGCCGCCTGGGAAATGGACTTCAGCCTTACAAAGAGCAAGACAGTGGGTCTCGCCCAGCGTCCTGGACCATGGCTAGCAGTGGAGGAGGAAGGCTCTGTTTGAGAAGATGGTGAGTCCCAGACCTGTTGATCCCACCCGTCAAGAGGGTTACACCCAAAGCCTTGTGCATCCGACACATACCTATGGAGCACTGACCATACGCCAGGCACTGAACCAGGCACTGGAGAACAATGTGAACACAGCCATTGCTGCTATCCTCAGACTGCGGGGAGGTGGCAGTCAAAATAAACAGAATACTGGCAGATCGTGACAGTGCTGTGAGGGAACGATGACAGAGACACCAGGTGTGTGTGCACATGCGCAGGAGGGGATCTAGGGAAGCCACTGGAGACAAGCTCACCATGCTTCTGCCTTCTATACTAGTCCCCCGTGCCTGGAATGTTCCTCCCTAGGTGTGCACGTGGCTCCTTCTCTCACCTCTAGTTCTTCATTCAGGTTCTCTCCTCTGCAGGCTCTCCCTGGGCCACCCTACCTCAAAATGCAAACCCTGCCCCAGCAGTTCCTCCCTGCGTTACTTTTCCCTGAGGACTTTTCACTCTCTAATGTACTGGATATTTTACCTATTTATCTACAGATCGTCTATCCCTCCCACTAGAATGTAATCTCCATTTTTAACTTTTTATTTGGAAATAGTTTCAAACTCACACAAACATATAGGAATAAAAATAGTTCATAGAATTATTAACTAATAAAACCCTTCTCTCTCTCACACACAATTTTTTGTGACCCATTTGAGGGTAAATTACTCATCACAGCCCTTCACTCCTAAATACTTCAGGGCATATTTCCTAAGAATAGAGATCTTCTCTTACATAACCACAGTACATTATCAATGTCAGTAAACTTAATGTTATGATACATTTACCTAATCTACTGTTCATAGTTCAGTTTTGTCAGTTGGTCCAATAATATCCTTCTATCATTTTTTTTCTCTTCTGCACAAGATGTAGTCTATTGTCTGCTATTCAGTCATTATGCCTGTTTAGCCTCCTGCGATCAGAGATATTTCCATAGCTCTTTCTTTGTCTTTTATGACTCTTATGTTTTTGAAGAATACAGTCTCCTTTTTTTTTTTTTAAGGAATATTCCTTCTTTGGAGCTTGTCAGATGTTTCCTCATGATAAGATTCAGGTTACATATCTCCAATCTGGATTCTACATAAGTGAAATTGTGTCCTTCACAGGGTATCACATCTCGGGGCATGAGATGTCCATCTGCCCCTTATGGTTAATTTTGATCACCCAGTTAAGGTGCTGTCTAATTTCTCCATTGTAAAATTATTATGTTTCTCCCATGTAACCAATAAGCAATCTGTACAGAGTTACTTTTATTTCTTTAAAATTATATTATTATTATTTTAAGAGACAGAGTCTTGCTCTGTTTCCCAGGCTGGAGAGCAGTGGCTTGATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCATTCCTCCCACCTCAGCCACCTGAGTAGCTGGGACTATAGGCGTGCACCACCAGGCCCAGCTAATTTGTTTGCTAATTTTTTGTAGAGACAGGGTCTCCCTATGTTGCACAGGCTAATCTGGAACTCCTGGGCTCAAGCGATCTTCCTACCTTGGCCTCCCAAAGTGCTGCGATTACAGGTGTGAGCCACCATGCCCAGCCCCTTATTTTTTTTTTAAAAGCACTTCCTTACTTTCTGGCATAAGATATTCCAGGTTCAT
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Task1_train_1120
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A change on Chromosome 1 affects gene ABCA4 (ATP binding cassette subfamily A member 4). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Retinitis pigmentosa 19
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TTCTATAGATATCTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAAGTGTTTGTTAAATAAATGAGTAATTGTAACTCTGCTCTTTTCTAGGTTATAAAGCATATCAGAACGTGAATGAGCACGGCAATATGCTGATAATCTTAAACTGTTAGCTTTGGCATGCAAACTCTTAATAATAAGGAATTATCTACAATAGTTTACAATGTGTGGGTACAGGATAAGGATAATCCTATTCAAGATTACTGCCATTGTTGGTTTGTCATATAACATATGGTCTTTTTTCAAACTCAAAAGCATACAATATTCTAAAAACAAAGATGGGTCCTCAAGTCAGTTGGTCTCCTAACCATTCCTACATTGGAGTGGACTCTTAGTAAATAGGCCACAGGTCCCGGATCTGTTGAGATAAGTGGTGAAATATTGAGGCAGTGGTAGCAGCCCTCCCTCATCCCAGCCAGGCTCTGCATGCATCCTGATCAGATGCCCCATCCAGAGACTTGGGCGAGTCTTCGACCACAGGAAATTAGGCCAATATAGAGGAGTTTCTTATCAGCATGATGGCCTTCTCCATCTGCTGCTGGAGAATGAGGCCCAGCCACCACCTGCCTCTGCCCCAGGGGATGACGGAGCAGCAGGACTCTTCCAAGTGTCAATGGAGAACACAGGATCCAGGTGGATCCACAGAAGGCAACAAGGGGCACGCCCCACCATCTGCTTACTTGGACTTGAGATGCTGAATGGTGCCCATACATCGAAAGGCGCCCTTTACCATGATGGCCAGCCGGGTACACAGTGCCTCACATTCTTCCATGCTGTGGGGCAGGAGAGAGGAGGTGAGCAGGAGAGGATTCCCACCCACCTTCCCCAGCCCTGGGAATCTCTTGCCTGTGGGATGTGAGGACCACAGCCCTCCCTTCTCTGATGATGCTCACGATGACGTTCCACAGCATGCGGCGTGCCTGGGGGTCCATCCCTGTGGTGGGCTCATCCTGGGGGGTGGAGAGAAGGTTGGGGGCACAGGCTGGGAGCTGGCCCTTCTGATTACTGCTTCCCCCTGGGCTGGCTCCCCTGTGGAGGATGAGCTGACAGAAGGCGCACACAGTCACTCCCCTCACTTGAGCAAGACAGGGGTACCCTGGTGTAGGGTAGGGAAGGCAGGAGGTGGATCCAAGAGTAAAGAAGCGTGGCGTCCATCCTGGGCCCATTTCAGCCCACGAGGGGATTAAAGTGGATTAAGGCAATGACAGAATTCTCCTCAAAAAAAGAAAATCCTGCAAATACATTTGTCAGAAGGCAGGGAGGTCACTCAGGTCACTTCCTTGGTTCCCGCTATGTCCTGTGCCCTCATGATCCTTGGGCTGCGTGGGCATGGCCTCAGGCCTGGCCTGGCTCAGCTCAGGAGCCTTTGACCCAGCTCAGTGCTCCTGTATGGGGACCAGACACCGACAGGCCGCAGAGTGGGCTGAACTTCCCGGCTGTGAGCCGATGGCCCCACAGGAGACATCCTGGGAACGCAGGATGTGCGCAGTCCCAAGTCAAGGCTGTGCCGTGACTTGTTTTTCTCCGGAGCTGTGTGAACCAAACACTGGGCTGATCGCTCAAAATGAGCAACACAGGAAACAGTCCAGACTAAAGCCAAACTGCTGCAGTTTCTAAATCTGCCGACCCAGAACCTATTTCCCCAACCCAAGAGACCCAGCACTTGGTTTAAGCCCTTGGTGCGGCCCAAGCCCGCAGTTACCAGCAGCACCAGCGGTGGGCAGCCAATGAGTGCGATGGCTGTGGAGAGTTTCCGCTTGTTGCCCCCACTGTACGTGCCAGCCAGGCAGTCGGCGTAGACAGTCAGGCCCAGGCTCTTAATACTCCAGTTTGCAACCTAGGGAAGAGAAAGAAATGCCATTTGGAGAAGACAAGCAAACACCCCAAACCTCCCCCAGTTCAAAGCCTTGGGCTCCCAGATCTCACGCCTCCAGAATGAAATCCCCAGCTAGGCTGAAACAGGCTCCTGCTGGCTCCTGTCCTCTGGCATGTGCTTCAGGCGCCAGACAGGGGCTCTTTCTCTCTGTGTCTTGGATCCCAGGGTGGCCCAGCCTGCTCAGCATCTGTTGGGTGTAGCCGCCTGGGAAATGGACTTCAGCCTTACAAAGAGCAAGACAGTGGGTCTCGCCCAGCGTCCTGGACCATGGCTAGCAGTGGAGGAGGAAGGCTCTGTTTGAGAAGATGGTGAGTCCCAGACCTGTTGATCCCACCCGTCAAGAGGGTTACACCCAAAGCCTTGTGCATCCGACACATACCTATGGAGCACTGACCATACGCCAGGCACTGAACCAGGCACTGGAGAACAATGTGAACACAGCCATTGCTGCTATCCTCAGACTGCGGGGAGGTGGCAGTCAAAATAAACAGAATACTGGCAGATCGTGACAGTGCTGTGAGGGAACGATGACAGAGACACCAGGTGTGTGTGCACATGCGCAGGAGGGGATCTAGGGAAGCCACTGGAGACAAGCTCACCATGCTTCTGCCTTCTATACTAGTCCCCCGTGCCTGGAATGTTCCTCCCTAGGTGTGCACGTGGCTCCTTCTCTCACCTCTAGTTCTTCATTCAGGTTCTCTCCTCTGCAGGCTCTCCCTGGGCCACCCTACCTCAAAATGCAAACCCTGCCCCAGCAGTTCCTCCCTGCGTTACTTTTCCCTGAGGACTTTTCACTCTCTAATGTACTGGATATTTTACCTATTTATCTACAGATCGTCTATCCCTCCCACTAGAATGTAATCTCCATTTTTAACTTTTTATTTGGAAATAGTTTCAAACTCACACAAACATATAGGAATAAAAATAGTTCATAGAATTATTAACTAATAAAACCCTTCTCTCTCTCACACACAATTTTTTGTGACCCATTTGAGGGTAAATTACTCATCACAGCCCTTCACTCCTAAATACTTCAGGGCATATTTCCTAAGAATAGAGATCTTCTCTTACATAACCACAGTACATTATCAATGTCAGTAAACTTAATGTTATGATACATTTACCTAATCTACTGTTCATAGTTCAGTTTTGTCAGTTGGTCCAATAATATCCTTCTATCATTTTTTTTCTCTTCTGCACAAGATGTAGTCTATTGTCTGCTATTCAGTCATTATGCCTGTTTAGCCTCCTGCGATCAGAGATATTTCCATAGCTCTTTCTTTGTCTTTTATGACTCTTATGTTTTTGAAGAATACAGTCTCCTTTTTTTTTTTTTAAGGAATATTCCTTCTTTGGAGCTTGTCAGATGTTTCCTCATGATAAGATTCAGGTTACATATCTCCAATCTGGATTCTACATAAGTGAAATTGTGTCCTTCACAGGGTATCACATCTCGGGGCATGAGATGTCCATCTGCCCCTTATGGTTAATTTTGATCACCCAGTTAAGGTGCTGTCTAATTTCTCCATTGTAAAATTATTATGTTTCTCCCATGTAACCAATAAGCAATCTGTACAGAGTTACTTTTATTTCTTTAAAATTATATTATTATTATTTTAAGAGACAGAGTCTTGCTCTGTTTCCCAGGCTGGAGAGCAGTGGCTTGATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCATTCCTCCCACCTCAGCCACCTGAGTAGCTGGGACTATAGGCGTGCACCACCAGGCCCAGCTAATTTGTTTGCTAATTTTTTGTAGAGACAGGGTCTCCCTATGTTGCACAGGCTAATCTGGAACTCCTGGGCTCAAGCGATCTTCCTACCTTGGCCTCCCAAAGTGCTGCGATTACAGGTGTGAGCCACCATGCCCAGCCCCTTATTTTTTTTTTAAAAGCACTTCCTTACTTTCTGGCATAAGATATTCCAGGTTCAT
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TTCTATAGATATCTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAAGTGTTTGTTAAATAAATGAGTAATTGTAACTCTGCTCTTTTCTAGGTTATAAAGCATATCAGAACGTGAATGAGCACGGCAATATGCTGATAATCTTAAACTGTTAGCTTTGGCATGCAAACTCTTAATAATAAGGAATTATCTACAATAGTTTACAATGTGTGGGTACAGGATAAGGATAATCCTATTCAAGATTACTGCCATTGTTGGTTTGTCATATAACATATGGTCTTTTTTCAAACTCAAAAGCATACAATATTCTAAAAACAAAGATGGGTCCTCAAGTCAGTTGGTCTCCTAACCATTCCTACATTGGAGTGGACTCTTAGTAAATAGGCCACAGGTCCCGGATCTGTTGAGATAAGTGGTGAAATATTGAGGCAGTGGTAGCAGCCCTCCCTCATCCCAGCCAGGCTCTGCATGCATCCTGATCAGATGCCCCATCCAGAGACTTGGGCGAGTCTTCGACCACAGGAAATTAGGCCAATATAGAGGAGTTTCTTATCAGCATGATGGCCTTCTCCATCTGCTGCTGGAGAATGAGGCCCAGCCACCACCTGCCTCTGCCCCAGGGGATGACGGAGCAGCAGGACTCTTCCAAGTGTCAATGGAGAACACAGGATCCAGGTGGATCCACAGAAGGCAACAAGGGGCACGCCCCACCATCTGCTTACTTGGACTTGAGATGCTGAATGGTGCCCATACATCGAAAGGCGCCCTTTACCATGATGGCCAGCCGGGTACACAGTGCCTCACATTCTTCCATGCTGTGGGGCAGGAGAGAGGAGGTGAGCAGGAGAGGATTCCCACCCACCTTCCCCAGCCCTGGGAATCTCTTGCCTGTGGGATGTGAGGACCACAGCCCTCCCTTCTCTGATGATGCTCACGATGACGTTCCACAGCATGCGGCGTGCCTGGGGGTCCATCCCTGTGGTGGGCTCATCCTGGGGGGTGGAGAGAAGGTTGGGGGCACAGGCTGGGAGCTGGCCCTTCTGATTACTGCTTCCCCCTGGGCTGGCTCCCCTGTGGAGGATGAGCTGACAGAAGGCGCACACAGTCACTCCCCTCACTTGAGCAAGACAGGGGTACCCTGGTGTAGGGTAGGGAAGGCAGGAGGTGGATCCAAGAGTAAAGAAGCGTGGCGTCCATCCTGGGCCCATTTCAGCCCACGAGGGGATTAAAGTGGATTAAGGCAATGACAGAATTCTCCTCAAAAAAAGAAAATCCTGCAAATACATTTGTCAGAAGGCAGGGAGGTCACTCAGGTCACTTCCTTGGTTCCCGCTATGTCCTGTGCCCTCATGATCCTTGGGCTGCGTGGGCATGGCCTCAGGCCTGGCCTGGCTCAGCTCAGGAGCCTTTGACCCAGCTCAGTGCTCCTGTATGGGGACCAGACACCGACAGGCCGCAGAGTGGGCTGAACTTCCCGGCTGTGAGCCGATGGCCCCACAGGAGACATCCTGGGAACGCAGGATGTGCGCAGTCCCAAGTCAAGGCTGTGCCGTGACTTGTTTTTCTCCGGAGCTGTGTGAACCAAACACTGGGCTGATCGCTCAAAATGAGCAACACAGGAAACAGTCCAGACTAAAGCCAAACTGCTGCAGTTTCTAAATCTGCCGACCCAGAACCTATTTCCCCAACCCAAGAGACCCAGCACTTGGTTTAAGCCCTTGGTGCGGCCCAAGCCCGCAGTTACCAGCAGCACCAGCGGTGGGCAGCCAATGAGTGCGATGGCTGTGGAGAGTTTCCGCTTGTTGCCCCCACTGTACGTGCCAGCCAGGCAGTCGACGTAGACAGTCAGGCCCAGGCTCTTAATACTCCAGTTTGCAACCTAGGGAAGAGAAAGAAATGCCATTTGGAGAAGACAAGCAAACACCCCAAACCTCCCCCAGTTCAAAGCCTTGGGCTCCCAGATCTCACGCCTCCAGAATGAAATCCCCAGCTAGGCTGAAACAGGCTCCTGCTGGCTCCTGTCCTCTGGCATGTGCTTCAGGCGCCAGACAGGGGCTCTTTCTCTCTGTGTCTTGGATCCCAGGGTGGCCCAGCCTGCTCAGCATCTGTTGGGTGTAGCCGCCTGGGAAATGGACTTCAGCCTTACAAAGAGCAAGACAGTGGGTCTCGCCCAGCGTCCTGGACCATGGCTAGCAGTGGAGGAGGAAGGCTCTGTTTGAGAAGATGGTGAGTCCCAGACCTGTTGATCCCACCCGTCAAGAGGGTTACACCCAAAGCCTTGTGCATCCGACACATACCTATGGAGCACTGACCATACGCCAGGCACTGAACCAGGCACTGGAGAACAATGTGAACACAGCCATTGCTGCTATCCTCAGACTGCGGGGAGGTGGCAGTCAAAATAAACAGAATACTGGCAGATCGTGACAGTGCTGTGAGGGAACGATGACAGAGACACCAGGTGTGTGTGCACATGCGCAGGAGGGGATCTAGGGAAGCCACTGGAGACAAGCTCACCATGCTTCTGCCTTCTATACTAGTCCCCCGTGCCTGGAATGTTCCTCCCTAGGTGTGCACGTGGCTCCTTCTCTCACCTCTAGTTCTTCATTCAGGTTCTCTCCTCTGCAGGCTCTCCCTGGGCCACCCTACCTCAAAATGCAAACCCTGCCCCAGCAGTTCCTCCCTGCGTTACTTTTCCCTGAGGACTTTTCACTCTCTAATGTACTGGATATTTTACCTATTTATCTACAGATCGTCTATCCCTCCCACTAGAATGTAATCTCCATTTTTAACTTTTTATTTGGAAATAGTTTCAAACTCACACAAACATATAGGAATAAAAATAGTTCATAGAATTATTAACTAATAAAACCCTTCTCTCTCTCACACACAATTTTTTGTGACCCATTTGAGGGTAAATTACTCATCACAGCCCTTCACTCCTAAATACTTCAGGGCATATTTCCTAAGAATAGAGATCTTCTCTTACATAACCACAGTACATTATCAATGTCAGTAAACTTAATGTTATGATACATTTACCTAATCTACTGTTCATAGTTCAGTTTTGTCAGTTGGTCCAATAATATCCTTCTATCATTTTTTTTCTCTTCTGCACAAGATGTAGTCTATTGTCTGCTATTCAGTCATTATGCCTGTTTAGCCTCCTGCGATCAGAGATATTTCCATAGCTCTTTCTTTGTCTTTTATGACTCTTATGTTTTTGAAGAATACAGTCTCCTTTTTTTTTTTTTAAGGAATATTCCTTCTTTGGAGCTTGTCAGATGTTTCCTCATGATAAGATTCAGGTTACATATCTCCAATCTGGATTCTACATAAGTGAAATTGTGTCCTTCACAGGGTATCACATCTCGGGGCATGAGATGTCCATCTGCCCCTTATGGTTAATTTTGATCACCCAGTTAAGGTGCTGTCTAATTTCTCCATTGTAAAATTATTATGTTTCTCCCATGTAACCAATAAGCAATCTGTACAGAGTTACTTTTATTTCTTTAAAATTATATTATTATTATTTTAAGAGACAGAGTCTTGCTCTGTTTCCCAGGCTGGAGAGCAGTGGCTTGATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCATTCCTCCCACCTCAGCCACCTGAGTAGCTGGGACTATAGGCGTGCACCACCAGGCCCAGCTAATTTGTTTGCTAATTTTTTGTAGAGACAGGGTCTCCCTATGTTGCACAGGCTAATCTGGAACTCCTGGGCTCAAGCGATCTTCCTACCTTGGCCTCCCAAAGTGCTGCGATTACAGGTGTGAGCCACCATGCCCAGCCCCTTATTTTTTTTTTAAAAGCACTTCCTTACTTTCTGGCATAAGATATTCCAGGTTCAT
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Task1_train_1121
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Gene ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Severe early-childhood-onset retinal dystrophy
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TCTATAGATATCTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAAGTGTTTGTTAAATAAATGAGTAATTGTAACTCTGCTCTTTTCTAGGTTATAAAGCATATCAGAACGTGAATGAGCACGGCAATATGCTGATAATCTTAAACTGTTAGCTTTGGCATGCAAACTCTTAATAATAAGGAATTATCTACAATAGTTTACAATGTGTGGGTACAGGATAAGGATAATCCTATTCAAGATTACTGCCATTGTTGGTTTGTCATATAACATATGGTCTTTTTTCAAACTCAAAAGCATACAATATTCTAAAAACAAAGATGGGTCCTCAAGTCAGTTGGTCTCCTAACCATTCCTACATTGGAGTGGACTCTTAGTAAATAGGCCACAGGTCCCGGATCTGTTGAGATAAGTGGTGAAATATTGAGGCAGTGGTAGCAGCCCTCCCTCATCCCAGCCAGGCTCTGCATGCATCCTGATCAGATGCCCCATCCAGAGACTTGGGCGAGTCTTCGACCACAGGAAATTAGGCCAATATAGAGGAGTTTCTTATCAGCATGATGGCCTTCTCCATCTGCTGCTGGAGAATGAGGCCCAGCCACCACCTGCCTCTGCCCCAGGGGATGACGGAGCAGCAGGACTCTTCCAAGTGTCAATGGAGAACACAGGATCCAGGTGGATCCACAGAAGGCAACAAGGGGCACGCCCCACCATCTGCTTACTTGGACTTGAGATGCTGAATGGTGCCCATACATCGAAAGGCGCCCTTTACCATGATGGCCAGCCGGGTACACAGTGCCTCACATTCTTCCATGCTGTGGGGCAGGAGAGAGGAGGTGAGCAGGAGAGGATTCCCACCCACCTTCCCCAGCCCTGGGAATCTCTTGCCTGTGGGATGTGAGGACCACAGCCCTCCCTTCTCTGATGATGCTCACGATGACGTTCCACAGCATGCGGCGTGCCTGGGGGTCCATCCCTGTGGTGGGCTCATCCTGGGGGGTGGAGAGAAGGTTGGGGGCACAGGCTGGGAGCTGGCCCTTCTGATTACTGCTTCCCCCTGGGCTGGCTCCCCTGTGGAGGATGAGCTGACAGAAGGCGCACACAGTCACTCCCCTCACTTGAGCAAGACAGGGGTACCCTGGTGTAGGGTAGGGAAGGCAGGAGGTGGATCCAAGAGTAAAGAAGCGTGGCGTCCATCCTGGGCCCATTTCAGCCCACGAGGGGATTAAAGTGGATTAAGGCAATGACAGAATTCTCCTCAAAAAAAGAAAATCCTGCAAATACATTTGTCAGAAGGCAGGGAGGTCACTCAGGTCACTTCCTTGGTTCCCGCTATGTCCTGTGCCCTCATGATCCTTGGGCTGCGTGGGCATGGCCTCAGGCCTGGCCTGGCTCAGCTCAGGAGCCTTTGACCCAGCTCAGTGCTCCTGTATGGGGACCAGACACCGACAGGCCGCAGAGTGGGCTGAACTTCCCGGCTGTGAGCCGATGGCCCCACAGGAGACATCCTGGGAACGCAGGATGTGCGCAGTCCCAAGTCAAGGCTGTGCCGTGACTTGTTTTTCTCCGGAGCTGTGTGAACCAAACACTGGGCTGATCGCTCAAAATGAGCAACACAGGAAACAGTCCAGACTAAAGCCAAACTGCTGCAGTTTCTAAATCTGCCGACCCAGAACCTATTTCCCCAACCCAAGAGACCCAGCACTTGGTTTAAGCCCTTGGTGCGGCCCAAGCCCGCAGTTACCAGCAGCACCAGCGGTGGGCAGCCAATGAGTGCGATGGCTGTGGAGAGTTTCCGCTTGTTGCCCCCACTGTACGTGCCAGCCAGGCAGTCGGCGTAGACAGTCAGGCCCAGGCTCTTAATACTCCAGTTTGCAACCTAGGGAAGAGAAAGAAATGCCATTTGGAGAAGACAAGCAAACACCCCAAACCTCCCCCAGTTCAAAGCCTTGGGCTCCCAGATCTCACGCCTCCAGAATGAAATCCCCAGCTAGGCTGAAACAGGCTCCTGCTGGCTCCTGTCCTCTGGCATGTGCTTCAGGCGCCAGACAGGGGCTCTTTCTCTCTGTGTCTTGGATCCCAGGGTGGCCCAGCCTGCTCAGCATCTGTTGGGTGTAGCCGCCTGGGAAATGGACTTCAGCCTTACAAAGAGCAAGACAGTGGGTCTCGCCCAGCGTCCTGGACCATGGCTAGCAGTGGAGGAGGAAGGCTCTGTTTGAGAAGATGGTGAGTCCCAGACCTGTTGATCCCACCCGTCAAGAGGGTTACACCCAAAGCCTTGTGCATCCGACACATACCTATGGAGCACTGACCATACGCCAGGCACTGAACCAGGCACTGGAGAACAATGTGAACACAGCCATTGCTGCTATCCTCAGACTGCGGGGAGGTGGCAGTCAAAATAAACAGAATACTGGCAGATCGTGACAGTGCTGTGAGGGAACGATGACAGAGACACCAGGTGTGTGTGCACATGCGCAGGAGGGGATCTAGGGAAGCCACTGGAGACAAGCTCACCATGCTTCTGCCTTCTATACTAGTCCCCCGTGCCTGGAATGTTCCTCCCTAGGTGTGCACGTGGCTCCTTCTCTCACCTCTAGTTCTTCATTCAGGTTCTCTCCTCTGCAGGCTCTCCCTGGGCCACCCTACCTCAAAATGCAAACCCTGCCCCAGCAGTTCCTCCCTGCGTTACTTTTCCCTGAGGACTTTTCACTCTCTAATGTACTGGATATTTTACCTATTTATCTACAGATCGTCTATCCCTCCCACTAGAATGTAATCTCCATTTTTAACTTTTTATTTGGAAATAGTTTCAAACTCACACAAACATATAGGAATAAAAATAGTTCATAGAATTATTAACTAATAAAACCCTTCTCTCTCTCACACACAATTTTTTGTGACCCATTTGAGGGTAAATTACTCATCACAGCCCTTCACTCCTAAATACTTCAGGGCATATTTCCTAAGAATAGAGATCTTCTCTTACATAACCACAGTACATTATCAATGTCAGTAAACTTAATGTTATGATACATTTACCTAATCTACTGTTCATAGTTCAGTTTTGTCAGTTGGTCCAATAATATCCTTCTATCATTTTTTTTCTCTTCTGCACAAGATGTAGTCTATTGTCTGCTATTCAGTCATTATGCCTGTTTAGCCTCCTGCGATCAGAGATATTTCCATAGCTCTTTCTTTGTCTTTTATGACTCTTATGTTTTTGAAGAATACAGTCTCCTTTTTTTTTTTTTAAGGAATATTCCTTCTTTGGAGCTTGTCAGATGTTTCCTCATGATAAGATTCAGGTTACATATCTCCAATCTGGATTCTACATAAGTGAAATTGTGTCCTTCACAGGGTATCACATCTCGGGGCATGAGATGTCCATCTGCCCCTTATGGTTAATTTTGATCACCCAGTTAAGGTGCTGTCTAATTTCTCCATTGTAAAATTATTATGTTTCTCCCATGTAACCAATAAGCAATCTGTACAGAGTTACTTTTATTTCTTTAAAATTATATTATTATTATTTTAAGAGACAGAGTCTTGCTCTGTTTCCCAGGCTGGAGAGCAGTGGCTTGATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCATTCCTCCCACCTCAGCCACCTGAGTAGCTGGGACTATAGGCGTGCACCACCAGGCCCAGCTAATTTGTTTGCTAATTTTTTGTAGAGACAGGGTCTCCCTATGTTGCACAGGCTAATCTGGAACTCCTGGGCTCAAGCGATCTTCCTACCTTGGCCTCCCAAAGTGCTGCGATTACAGGTGTGAGCCACCATGCCCAGCCCCTTATTTTTTTTTTAAAAGCACTTCCTTACTTTCTGGCATAAGATATTCCAGGTTCATT
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TCTATAGATATCTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAAGTGTTTGTTAAATAAATGAGTAATTGTAACTCTGCTCTTTTCTAGGTTATAAAGCATATCAGAACGTGAATGAGCACGGCAATATGCTGATAATCTTAAACTGTTAGCTTTGGCATGCAAACTCTTAATAATAAGGAATTATCTACAATAGTTTACAATGTGTGGGTACAGGATAAGGATAATCCTATTCAAGATTACTGCCATTGTTGGTTTGTCATATAACATATGGTCTTTTTTCAAACTCAAAAGCATACAATATTCTAAAAACAAAGATGGGTCCTCAAGTCAGTTGGTCTCCTAACCATTCCTACATTGGAGTGGACTCTTAGTAAATAGGCCACAGGTCCCGGATCTGTTGAGATAAGTGGTGAAATATTGAGGCAGTGGTAGCAGCCCTCCCTCATCCCAGCCAGGCTCTGCATGCATCCTGATCAGATGCCCCATCCAGAGACTTGGGCGAGTCTTCGACCACAGGAAATTAGGCCAATATAGAGGAGTTTCTTATCAGCATGATGGCCTTCTCCATCTGCTGCTGGAGAATGAGGCCCAGCCACCACCTGCCTCTGCCCCAGGGGATGACGGAGCAGCAGGACTCTTCCAAGTGTCAATGGAGAACACAGGATCCAGGTGGATCCACAGAAGGCAACAAGGGGCACGCCCCACCATCTGCTTACTTGGACTTGAGATGCTGAATGGTGCCCATACATCGAAAGGCGCCCTTTACCATGATGGCCAGCCGGGTACACAGTGCCTCACATTCTTCCATGCTGTGGGGCAGGAGAGAGGAGGTGAGCAGGAGAGGATTCCCACCCACCTTCCCCAGCCCTGGGAATCTCTTGCCTGTGGGATGTGAGGACCACAGCCCTCCCTTCTCTGATGATGCTCACGATGACGTTCCACAGCATGCGGCGTGCCTGGGGGTCCATCCCTGTGGTGGGCTCATCCTGGGGGGTGGAGAGAAGGTTGGGGGCACAGGCTGGGAGCTGGCCCTTCTGATTACTGCTTCCCCCTGGGCTGGCTCCCCTGTGGAGGATGAGCTGACAGAAGGCGCACACAGTCACTCCCCTCACTTGAGCAAGACAGGGGTACCCTGGTGTAGGGTAGGGAAGGCAGGAGGTGGATCCAAGAGTAAAGAAGCGTGGCGTCCATCCTGGGCCCATTTCAGCCCACGAGGGGATTAAAGTGGATTAAGGCAATGACAGAATTCTCCTCAAAAAAAGAAAATCCTGCAAATACATTTGTCAGAAGGCAGGGAGGTCACTCAGGTCACTTCCTTGGTTCCCGCTATGTCCTGTGCCCTCATGATCCTTGGGCTGCGTGGGCATGGCCTCAGGCCTGGCCTGGCTCAGCTCAGGAGCCTTTGACCCAGCTCAGTGCTCCTGTATGGGGACCAGACACCGACAGGCCGCAGAGTGGGCTGAACTTCCCGGCTGTGAGCCGATGGCCCCACAGGAGACATCCTGGGAACGCAGGATGTGCGCAGTCCCAAGTCAAGGCTGTGCCGTGACTTGTTTTTCTCCGGAGCTGTGTGAACCAAACACTGGGCTGATCGCTCAAAATGAGCAACACAGGAAACAGTCCAGACTAAAGCCAAACTGCTGCAGTTTCTAAATCTGCCGACCCAGAACCTATTTCCCCAACCCAAGAGACCCAGCACTTGGTTTAAGCCCTTGGTGCGGCCCAAGCCCGCAGTTACCAGCAGCACCAGCGGTGGGCAGCCAATGAGTGCGATGGCTGTGGAGAGTTTCCGCTTGTTGCCCCCACTGTACGTGCCAGCCAGGCAGTCGGTGTAGACAGTCAGGCCCAGGCTCTTAATACTCCAGTTTGCAACCTAGGGAAGAGAAAGAAATGCCATTTGGAGAAGACAAGCAAACACCCCAAACCTCCCCCAGTTCAAAGCCTTGGGCTCCCAGATCTCACGCCTCCAGAATGAAATCCCCAGCTAGGCTGAAACAGGCTCCTGCTGGCTCCTGTCCTCTGGCATGTGCTTCAGGCGCCAGACAGGGGCTCTTTCTCTCTGTGTCTTGGATCCCAGGGTGGCCCAGCCTGCTCAGCATCTGTTGGGTGTAGCCGCCTGGGAAATGGACTTCAGCCTTACAAAGAGCAAGACAGTGGGTCTCGCCCAGCGTCCTGGACCATGGCTAGCAGTGGAGGAGGAAGGCTCTGTTTGAGAAGATGGTGAGTCCCAGACCTGTTGATCCCACCCGTCAAGAGGGTTACACCCAAAGCCTTGTGCATCCGACACATACCTATGGAGCACTGACCATACGCCAGGCACTGAACCAGGCACTGGAGAACAATGTGAACACAGCCATTGCTGCTATCCTCAGACTGCGGGGAGGTGGCAGTCAAAATAAACAGAATACTGGCAGATCGTGACAGTGCTGTGAGGGAACGATGACAGAGACACCAGGTGTGTGTGCACATGCGCAGGAGGGGATCTAGGGAAGCCACTGGAGACAAGCTCACCATGCTTCTGCCTTCTATACTAGTCCCCCGTGCCTGGAATGTTCCTCCCTAGGTGTGCACGTGGCTCCTTCTCTCACCTCTAGTTCTTCATTCAGGTTCTCTCCTCTGCAGGCTCTCCCTGGGCCACCCTACCTCAAAATGCAAACCCTGCCCCAGCAGTTCCTCCCTGCGTTACTTTTCCCTGAGGACTTTTCACTCTCTAATGTACTGGATATTTTACCTATTTATCTACAGATCGTCTATCCCTCCCACTAGAATGTAATCTCCATTTTTAACTTTTTATTTGGAAATAGTTTCAAACTCACACAAACATATAGGAATAAAAATAGTTCATAGAATTATTAACTAATAAAACCCTTCTCTCTCTCACACACAATTTTTTGTGACCCATTTGAGGGTAAATTACTCATCACAGCCCTTCACTCCTAAATACTTCAGGGCATATTTCCTAAGAATAGAGATCTTCTCTTACATAACCACAGTACATTATCAATGTCAGTAAACTTAATGTTATGATACATTTACCTAATCTACTGTTCATAGTTCAGTTTTGTCAGTTGGTCCAATAATATCCTTCTATCATTTTTTTTCTCTTCTGCACAAGATGTAGTCTATTGTCTGCTATTCAGTCATTATGCCTGTTTAGCCTCCTGCGATCAGAGATATTTCCATAGCTCTTTCTTTGTCTTTTATGACTCTTATGTTTTTGAAGAATACAGTCTCCTTTTTTTTTTTTTAAGGAATATTCCTTCTTTGGAGCTTGTCAGATGTTTCCTCATGATAAGATTCAGGTTACATATCTCCAATCTGGATTCTACATAAGTGAAATTGTGTCCTTCACAGGGTATCACATCTCGGGGCATGAGATGTCCATCTGCCCCTTATGGTTAATTTTGATCACCCAGTTAAGGTGCTGTCTAATTTCTCCATTGTAAAATTATTATGTTTCTCCCATGTAACCAATAAGCAATCTGTACAGAGTTACTTTTATTTCTTTAAAATTATATTATTATTATTTTAAGAGACAGAGTCTTGCTCTGTTTCCCAGGCTGGAGAGCAGTGGCTTGATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCATTCCTCCCACCTCAGCCACCTGAGTAGCTGGGACTATAGGCGTGCACCACCAGGCCCAGCTAATTTGTTTGCTAATTTTTTGTAGAGACAGGGTCTCCCTATGTTGCACAGGCTAATCTGGAACTCCTGGGCTCAAGCGATCTTCCTACCTTGGCCTCCCAAAGTGCTGCGATTACAGGTGTGAGCCACCATGCCCAGCCCCTTATTTTTTTTTTAAAAGCACTTCCTTACTTTCTGGCATAAGATATTCCAGGTTCATT
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Task1_train_1122
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This alteration in ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Cone-rod dystrophy 3
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CTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAAGTGTTTGTTAAATAAATGAGTAATTGTAACTCTGCTCTTTTCTAGGTTATAAAGCATATCAGAACGTGAATGAGCACGGCAATATGCTGATAATCTTAAACTGTTAGCTTTGGCATGCAAACTCTTAATAATAAGGAATTATCTACAATAGTTTACAATGTGTGGGTACAGGATAAGGATAATCCTATTCAAGATTACTGCCATTGTTGGTTTGTCATATAACATATGGTCTTTTTTCAAACTCAAAAGCATACAATATTCTAAAAACAAAGATGGGTCCTCAAGTCAGTTGGTCTCCTAACCATTCCTACATTGGAGTGGACTCTTAGTAAATAGGCCACAGGTCCCGGATCTGTTGAGATAAGTGGTGAAATATTGAGGCAGTGGTAGCAGCCCTCCCTCATCCCAGCCAGGCTCTGCATGCATCCTGATCAGATGCCCCATCCAGAGACTTGGGCGAGTCTTCGACCACAGGAAATTAGGCCAATATAGAGGAGTTTCTTATCAGCATGATGGCCTTCTCCATCTGCTGCTGGAGAATGAGGCCCAGCCACCACCTGCCTCTGCCCCAGGGGATGACGGAGCAGCAGGACTCTTCCAAGTGTCAATGGAGAACACAGGATCCAGGTGGATCCACAGAAGGCAACAAGGGGCACGCCCCACCATCTGCTTACTTGGACTTGAGATGCTGAATGGTGCCCATACATCGAAAGGCGCCCTTTACCATGATGGCCAGCCGGGTACACAGTGCCTCACATTCTTCCATGCTGTGGGGCAGGAGAGAGGAGGTGAGCAGGAGAGGATTCCCACCCACCTTCCCCAGCCCTGGGAATCTCTTGCCTGTGGGATGTGAGGACCACAGCCCTCCCTTCTCTGATGATGCTCACGATGACGTTCCACAGCATGCGGCGTGCCTGGGGGTCCATCCCTGTGGTGGGCTCATCCTGGGGGGTGGAGAGAAGGTTGGGGGCACAGGCTGGGAGCTGGCCCTTCTGATTACTGCTTCCCCCTGGGCTGGCTCCCCTGTGGAGGATGAGCTGACAGAAGGCGCACACAGTCACTCCCCTCACTTGAGCAAGACAGGGGTACCCTGGTGTAGGGTAGGGAAGGCAGGAGGTGGATCCAAGAGTAAAGAAGCGTGGCGTCCATCCTGGGCCCATTTCAGCCCACGAGGGGATTAAAGTGGATTAAGGCAATGACAGAATTCTCCTCAAAAAAAGAAAATCCTGCAAATACATTTGTCAGAAGGCAGGGAGGTCACTCAGGTCACTTCCTTGGTTCCCGCTATGTCCTGTGCCCTCATGATCCTTGGGCTGCGTGGGCATGGCCTCAGGCCTGGCCTGGCTCAGCTCAGGAGCCTTTGACCCAGCTCAGTGCTCCTGTATGGGGACCAGACACCGACAGGCCGCAGAGTGGGCTGAACTTCCCGGCTGTGAGCCGATGGCCCCACAGGAGACATCCTGGGAACGCAGGATGTGCGCAGTCCCAAGTCAAGGCTGTGCCGTGACTTGTTTTTCTCCGGAGCTGTGTGAACCAAACACTGGGCTGATCGCTCAAAATGAGCAACACAGGAAACAGTCCAGACTAAAGCCAAACTGCTGCAGTTTCTAAATCTGCCGACCCAGAACCTATTTCCCCAACCCAAGAGACCCAGCACTTGGTTTAAGCCCTTGGTGCGGCCCAAGCCCGCAGTTACCAGCAGCACCAGCGGTGGGCAGCCAATGAGTGCGATGGCTGTGGAGAGTTTCCGCTTGTTGCCCCCACTGTACGTGCCAGCCAGGCAGTCGGCGTAGACAGTCAGGCCCAGGCTCTTAATACTCCAGTTTGCAACCTAGGGAAGAGAAAGAAATGCCATTTGGAGAAGACAAGCAAACACCCCAAACCTCCCCCAGTTCAAAGCCTTGGGCTCCCAGATCTCACGCCTCCAGAATGAAATCCCCAGCTAGGCTGAAACAGGCTCCTGCTGGCTCCTGTCCTCTGGCATGTGCTTCAGGCGCCAGACAGGGGCTCTTTCTCTCTGTGTCTTGGATCCCAGGGTGGCCCAGCCTGCTCAGCATCTGTTGGGTGTAGCCGCCTGGGAAATGGACTTCAGCCTTACAAAGAGCAAGACAGTGGGTCTCGCCCAGCGTCCTGGACCATGGCTAGCAGTGGAGGAGGAAGGCTCTGTTTGAGAAGATGGTGAGTCCCAGACCTGTTGATCCCACCCGTCAAGAGGGTTACACCCAAAGCCTTGTGCATCCGACACATACCTATGGAGCACTGACCATACGCCAGGCACTGAACCAGGCACTGGAGAACAATGTGAACACAGCCATTGCTGCTATCCTCAGACTGCGGGGAGGTGGCAGTCAAAATAAACAGAATACTGGCAGATCGTGACAGTGCTGTGAGGGAACGATGACAGAGACACCAGGTGTGTGTGCACATGCGCAGGAGGGGATCTAGGGAAGCCACTGGAGACAAGCTCACCATGCTTCTGCCTTCTATACTAGTCCCCCGTGCCTGGAATGTTCCTCCCTAGGTGTGCACGTGGCTCCTTCTCTCACCTCTAGTTCTTCATTCAGGTTCTCTCCTCTGCAGGCTCTCCCTGGGCCACCCTACCTCAAAATGCAAACCCTGCCCCAGCAGTTCCTCCCTGCGTTACTTTTCCCTGAGGACTTTTCACTCTCTAATGTACTGGATATTTTACCTATTTATCTACAGATCGTCTATCCCTCCCACTAGAATGTAATCTCCATTTTTAACTTTTTATTTGGAAATAGTTTCAAACTCACACAAACATATAGGAATAAAAATAGTTCATAGAATTATTAACTAATAAAACCCTTCTCTCTCTCACACACAATTTTTTGTGACCCATTTGAGGGTAAATTACTCATCACAGCCCTTCACTCCTAAATACTTCAGGGCATATTTCCTAAGAATAGAGATCTTCTCTTACATAACCACAGTACATTATCAATGTCAGTAAACTTAATGTTATGATACATTTACCTAATCTACTGTTCATAGTTCAGTTTTGTCAGTTGGTCCAATAATATCCTTCTATCATTTTTTTTCTCTTCTGCACAAGATGTAGTCTATTGTCTGCTATTCAGTCATTATGCCTGTTTAGCCTCCTGCGATCAGAGATATTTCCATAGCTCTTTCTTTGTCTTTTATGACTCTTATGTTTTTGAAGAATACAGTCTCCTTTTTTTTTTTTTAAGGAATATTCCTTCTTTGGAGCTTGTCAGATGTTTCCTCATGATAAGATTCAGGTTACATATCTCCAATCTGGATTCTACATAAGTGAAATTGTGTCCTTCACAGGGTATCACATCTCGGGGCATGAGATGTCCATCTGCCCCTTATGGTTAATTTTGATCACCCAGTTAAGGTGCTGTCTAATTTCTCCATTGTAAAATTATTATGTTTCTCCCATGTAACCAATAAGCAATCTGTACAGAGTTACTTTTATTTCTTTAAAATTATATTATTATTATTTTAAGAGACAGAGTCTTGCTCTGTTTCCCAGGCTGGAGAGCAGTGGCTTGATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCATTCCTCCCACCTCAGCCACCTGAGTAGCTGGGACTATAGGCGTGCACCACCAGGCCCAGCTAATTTGTTTGCTAATTTTTTGTAGAGACAGGGTCTCCCTATGTTGCACAGGCTAATCTGGAACTCCTGGGCTCAAGCGATCTTCCTACCTTGGCCTCCCAAAGTGCTGCGATTACAGGTGTGAGCCACCATGCCCAGCCCCTTATTTTTTTTTTAAAAGCACTTCCTTACTTTCTGGCATAAGATATTCCAGGTTCATTTTATACCTATG
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CTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAAGTGTTTGTTAAATAAATGAGTAATTGTAACTCTGCTCTTTTCTAGGTTATAAAGCATATCAGAACGTGAATGAGCACGGCAATATGCTGATAATCTTAAACTGTTAGCTTTGGCATGCAAACTCTTAATAATAAGGAATTATCTACAATAGTTTACAATGTGTGGGTACAGGATAAGGATAATCCTATTCAAGATTACTGCCATTGTTGGTTTGTCATATAACATATGGTCTTTTTTCAAACTCAAAAGCATACAATATTCTAAAAACAAAGATGGGTCCTCAAGTCAGTTGGTCTCCTAACCATTCCTACATTGGAGTGGACTCTTAGTAAATAGGCCACAGGTCCCGGATCTGTTGAGATAAGTGGTGAAATATTGAGGCAGTGGTAGCAGCCCTCCCTCATCCCAGCCAGGCTCTGCATGCATCCTGATCAGATGCCCCATCCAGAGACTTGGGCGAGTCTTCGACCACAGGAAATTAGGCCAATATAGAGGAGTTTCTTATCAGCATGATGGCCTTCTCCATCTGCTGCTGGAGAATGAGGCCCAGCCACCACCTGCCTCTGCCCCAGGGGATGACGGAGCAGCAGGACTCTTCCAAGTGTCAATGGAGAACACAGGATCCAGGTGGATCCACAGAAGGCAACAAGGGGCACGCCCCACCATCTGCTTACTTGGACTTGAGATGCTGAATGGTGCCCATACATCGAAAGGCGCCCTTTACCATGATGGCCAGCCGGGTACACAGTGCCTCACATTCTTCCATGCTGTGGGGCAGGAGAGAGGAGGTGAGCAGGAGAGGATTCCCACCCACCTTCCCCAGCCCTGGGAATCTCTTGCCTGTGGGATGTGAGGACCACAGCCCTCCCTTCTCTGATGATGCTCACGATGACGTTCCACAGCATGCGGCGTGCCTGGGGGTCCATCCCTGTGGTGGGCTCATCCTGGGGGGTGGAGAGAAGGTTGGGGGCACAGGCTGGGAGCTGGCCCTTCTGATTACTGCTTCCCCCTGGGCTGGCTCCCCTGTGGAGGATGAGCTGACAGAAGGCGCACACAGTCACTCCCCTCACTTGAGCAAGACAGGGGTACCCTGGTGTAGGGTAGGGAAGGCAGGAGGTGGATCCAAGAGTAAAGAAGCGTGGCGTCCATCCTGGGCCCATTTCAGCCCACGAGGGGATTAAAGTGGATTAAGGCAATGACAGAATTCTCCTCAAAAAAAGAAAATCCTGCAAATACATTTGTCAGAAGGCAGGGAGGTCACTCAGGTCACTTCCTTGGTTCCCGCTATGTCCTGTGCCCTCATGATCCTTGGGCTGCGTGGGCATGGCCTCAGGCCTGGCCTGGCTCAGCTCAGGAGCCTTTGACCCAGCTCAGTGCTCCTGTATGGGGACCAGACACCGACAGGCCGCAGAGTGGGCTGAACTTCCCGGCTGTGAGCCGATGGCCCCACAGGAGACATCCTGGGAACGCAGGATGTGCGCAGTCCCAAGTCAAGGCTGTGCCGTGACTTGTTTTTCTCCGGAGCTGTGTGAACCAAACACTGGGCTGATCGCTCAAAATGAGCAACACAGGAAACAGTCCAGACTAAAGCCAAACTGCTGCAGTTTCTAAATCTGCCGACCCAGAACCTATTTCCCCAACCCAAGAGACCCAGCACTTGGTTTAAGCCCTTGGTGCGGCCCAAGCCCGCAGTTACCAGCAGCACCAGCGGTGGGCAGCCAATGAGTGCGATGGCTGTGGAGAGTTTCCGCTTGTTGCCCCCACTGTACGTGCCAGCCAGGCAGTCGGCGTAGACAGTCCGGCCCAGGCTCTTAATACTCCAGTTTGCAACCTAGGGAAGAGAAAGAAATGCCATTTGGAGAAGACAAGCAAACACCCCAAACCTCCCCCAGTTCAAAGCCTTGGGCTCCCAGATCTCACGCCTCCAGAATGAAATCCCCAGCTAGGCTGAAACAGGCTCCTGCTGGCTCCTGTCCTCTGGCATGTGCTTCAGGCGCCAGACAGGGGCTCTTTCTCTCTGTGTCTTGGATCCCAGGGTGGCCCAGCCTGCTCAGCATCTGTTGGGTGTAGCCGCCTGGGAAATGGACTTCAGCCTTACAAAGAGCAAGACAGTGGGTCTCGCCCAGCGTCCTGGACCATGGCTAGCAGTGGAGGAGGAAGGCTCTGTTTGAGAAGATGGTGAGTCCCAGACCTGTTGATCCCACCCGTCAAGAGGGTTACACCCAAAGCCTTGTGCATCCGACACATACCTATGGAGCACTGACCATACGCCAGGCACTGAACCAGGCACTGGAGAACAATGTGAACACAGCCATTGCTGCTATCCTCAGACTGCGGGGAGGTGGCAGTCAAAATAAACAGAATACTGGCAGATCGTGACAGTGCTGTGAGGGAACGATGACAGAGACACCAGGTGTGTGTGCACATGCGCAGGAGGGGATCTAGGGAAGCCACTGGAGACAAGCTCACCATGCTTCTGCCTTCTATACTAGTCCCCCGTGCCTGGAATGTTCCTCCCTAGGTGTGCACGTGGCTCCTTCTCTCACCTCTAGTTCTTCATTCAGGTTCTCTCCTCTGCAGGCTCTCCCTGGGCCACCCTACCTCAAAATGCAAACCCTGCCCCAGCAGTTCCTCCCTGCGTTACTTTTCCCTGAGGACTTTTCACTCTCTAATGTACTGGATATTTTACCTATTTATCTACAGATCGTCTATCCCTCCCACTAGAATGTAATCTCCATTTTTAACTTTTTATTTGGAAATAGTTTCAAACTCACACAAACATATAGGAATAAAAATAGTTCATAGAATTATTAACTAATAAAACCCTTCTCTCTCTCACACACAATTTTTTGTGACCCATTTGAGGGTAAATTACTCATCACAGCCCTTCACTCCTAAATACTTCAGGGCATATTTCCTAAGAATAGAGATCTTCTCTTACATAACCACAGTACATTATCAATGTCAGTAAACTTAATGTTATGATACATTTACCTAATCTACTGTTCATAGTTCAGTTTTGTCAGTTGGTCCAATAATATCCTTCTATCATTTTTTTTCTCTTCTGCACAAGATGTAGTCTATTGTCTGCTATTCAGTCATTATGCCTGTTTAGCCTCCTGCGATCAGAGATATTTCCATAGCTCTTTCTTTGTCTTTTATGACTCTTATGTTTTTGAAGAATACAGTCTCCTTTTTTTTTTTTTAAGGAATATTCCTTCTTTGGAGCTTGTCAGATGTTTCCTCATGATAAGATTCAGGTTACATATCTCCAATCTGGATTCTACATAAGTGAAATTGTGTCCTTCACAGGGTATCACATCTCGGGGCATGAGATGTCCATCTGCCCCTTATGGTTAATTTTGATCACCCAGTTAAGGTGCTGTCTAATTTCTCCATTGTAAAATTATTATGTTTCTCCCATGTAACCAATAAGCAATCTGTACAGAGTTACTTTTATTTCTTTAAAATTATATTATTATTATTTTAAGAGACAGAGTCTTGCTCTGTTTCCCAGGCTGGAGAGCAGTGGCTTGATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCATTCCTCCCACCTCAGCCACCTGAGTAGCTGGGACTATAGGCGTGCACCACCAGGCCCAGCTAATTTGTTTGCTAATTTTTTGTAGAGACAGGGTCTCCCTATGTTGCACAGGCTAATCTGGAACTCCTGGGCTCAAGCGATCTTCCTACCTTGGCCTCCCAAAGTGCTGCGATTACAGGTGTGAGCCACCATGCCCAGCCCCTTATTTTTTTTTTAAAAGCACTTCCTTACTTTCTGGCATAAGATATTCCAGGTTCATTTTATACCTATG
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Task1_train_1123
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Here is a genetic alteration in ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Age related macular degeneration 2
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CTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAAGTGTTTGTTAAATAAATGAGTAATTGTAACTCTGCTCTTTTCTAGGTTATAAAGCATATCAGAACGTGAATGAGCACGGCAATATGCTGATAATCTTAAACTGTTAGCTTTGGCATGCAAACTCTTAATAATAAGGAATTATCTACAATAGTTTACAATGTGTGGGTACAGGATAAGGATAATCCTATTCAAGATTACTGCCATTGTTGGTTTGTCATATAACATATGGTCTTTTTTCAAACTCAAAAGCATACAATATTCTAAAAACAAAGATGGGTCCTCAAGTCAGTTGGTCTCCTAACCATTCCTACATTGGAGTGGACTCTTAGTAAATAGGCCACAGGTCCCGGATCTGTTGAGATAAGTGGTGAAATATTGAGGCAGTGGTAGCAGCCCTCCCTCATCCCAGCCAGGCTCTGCATGCATCCTGATCAGATGCCCCATCCAGAGACTTGGGCGAGTCTTCGACCACAGGAAATTAGGCCAATATAGAGGAGTTTCTTATCAGCATGATGGCCTTCTCCATCTGCTGCTGGAGAATGAGGCCCAGCCACCACCTGCCTCTGCCCCAGGGGATGACGGAGCAGCAGGACTCTTCCAAGTGTCAATGGAGAACACAGGATCCAGGTGGATCCACAGAAGGCAACAAGGGGCACGCCCCACCATCTGCTTACTTGGACTTGAGATGCTGAATGGTGCCCATACATCGAAAGGCGCCCTTTACCATGATGGCCAGCCGGGTACACAGTGCCTCACATTCTTCCATGCTGTGGGGCAGGAGAGAGGAGGTGAGCAGGAGAGGATTCCCACCCACCTTCCCCAGCCCTGGGAATCTCTTGCCTGTGGGATGTGAGGACCACAGCCCTCCCTTCTCTGATGATGCTCACGATGACGTTCCACAGCATGCGGCGTGCCTGGGGGTCCATCCCTGTGGTGGGCTCATCCTGGGGGGTGGAGAGAAGGTTGGGGGCACAGGCTGGGAGCTGGCCCTTCTGATTACTGCTTCCCCCTGGGCTGGCTCCCCTGTGGAGGATGAGCTGACAGAAGGCGCACACAGTCACTCCCCTCACTTGAGCAAGACAGGGGTACCCTGGTGTAGGGTAGGGAAGGCAGGAGGTGGATCCAAGAGTAAAGAAGCGTGGCGTCCATCCTGGGCCCATTTCAGCCCACGAGGGGATTAAAGTGGATTAAGGCAATGACAGAATTCTCCTCAAAAAAAGAAAATCCTGCAAATACATTTGTCAGAAGGCAGGGAGGTCACTCAGGTCACTTCCTTGGTTCCCGCTATGTCCTGTGCCCTCATGATCCTTGGGCTGCGTGGGCATGGCCTCAGGCCTGGCCTGGCTCAGCTCAGGAGCCTTTGACCCAGCTCAGTGCTCCTGTATGGGGACCAGACACCGACAGGCCGCAGAGTGGGCTGAACTTCCCGGCTGTGAGCCGATGGCCCCACAGGAGACATCCTGGGAACGCAGGATGTGCGCAGTCCCAAGTCAAGGCTGTGCCGTGACTTGTTTTTCTCCGGAGCTGTGTGAACCAAACACTGGGCTGATCGCTCAAAATGAGCAACACAGGAAACAGTCCAGACTAAAGCCAAACTGCTGCAGTTTCTAAATCTGCCGACCCAGAACCTATTTCCCCAACCCAAGAGACCCAGCACTTGGTTTAAGCCCTTGGTGCGGCCCAAGCCCGCAGTTACCAGCAGCACCAGCGGTGGGCAGCCAATGAGTGCGATGGCTGTGGAGAGTTTCCGCTTGTTGCCCCCACTGTACGTGCCAGCCAGGCAGTCGGCGTAGACAGTCAGGCCCAGGCTCTTAATACTCCAGTTTGCAACCTAGGGAAGAGAAAGAAATGCCATTTGGAGAAGACAAGCAAACACCCCAAACCTCCCCCAGTTCAAAGCCTTGGGCTCCCAGATCTCACGCCTCCAGAATGAAATCCCCAGCTAGGCTGAAACAGGCTCCTGCTGGCTCCTGTCCTCTGGCATGTGCTTCAGGCGCCAGACAGGGGCTCTTTCTCTCTGTGTCTTGGATCCCAGGGTGGCCCAGCCTGCTCAGCATCTGTTGGGTGTAGCCGCCTGGGAAATGGACTTCAGCCTTACAAAGAGCAAGACAGTGGGTCTCGCCCAGCGTCCTGGACCATGGCTAGCAGTGGAGGAGGAAGGCTCTGTTTGAGAAGATGGTGAGTCCCAGACCTGTTGATCCCACCCGTCAAGAGGGTTACACCCAAAGCCTTGTGCATCCGACACATACCTATGGAGCACTGACCATACGCCAGGCACTGAACCAGGCACTGGAGAACAATGTGAACACAGCCATTGCTGCTATCCTCAGACTGCGGGGAGGTGGCAGTCAAAATAAACAGAATACTGGCAGATCGTGACAGTGCTGTGAGGGAACGATGACAGAGACACCAGGTGTGTGTGCACATGCGCAGGAGGGGATCTAGGGAAGCCACTGGAGACAAGCTCACCATGCTTCTGCCTTCTATACTAGTCCCCCGTGCCTGGAATGTTCCTCCCTAGGTGTGCACGTGGCTCCTTCTCTCACCTCTAGTTCTTCATTCAGGTTCTCTCCTCTGCAGGCTCTCCCTGGGCCACCCTACCTCAAAATGCAAACCCTGCCCCAGCAGTTCCTCCCTGCGTTACTTTTCCCTGAGGACTTTTCACTCTCTAATGTACTGGATATTTTACCTATTTATCTACAGATCGTCTATCCCTCCCACTAGAATGTAATCTCCATTTTTAACTTTTTATTTGGAAATAGTTTCAAACTCACACAAACATATAGGAATAAAAATAGTTCATAGAATTATTAACTAATAAAACCCTTCTCTCTCTCACACACAATTTTTTGTGACCCATTTGAGGGTAAATTACTCATCACAGCCCTTCACTCCTAAATACTTCAGGGCATATTTCCTAAGAATAGAGATCTTCTCTTACATAACCACAGTACATTATCAATGTCAGTAAACTTAATGTTATGATACATTTACCTAATCTACTGTTCATAGTTCAGTTTTGTCAGTTGGTCCAATAATATCCTTCTATCATTTTTTTTCTCTTCTGCACAAGATGTAGTCTATTGTCTGCTATTCAGTCATTATGCCTGTTTAGCCTCCTGCGATCAGAGATATTTCCATAGCTCTTTCTTTGTCTTTTATGACTCTTATGTTTTTGAAGAATACAGTCTCCTTTTTTTTTTTTTAAGGAATATTCCTTCTTTGGAGCTTGTCAGATGTTTCCTCATGATAAGATTCAGGTTACATATCTCCAATCTGGATTCTACATAAGTGAAATTGTGTCCTTCACAGGGTATCACATCTCGGGGCATGAGATGTCCATCTGCCCCTTATGGTTAATTTTGATCACCCAGTTAAGGTGCTGTCTAATTTCTCCATTGTAAAATTATTATGTTTCTCCCATGTAACCAATAAGCAATCTGTACAGAGTTACTTTTATTTCTTTAAAATTATATTATTATTATTTTAAGAGACAGAGTCTTGCTCTGTTTCCCAGGCTGGAGAGCAGTGGCTTGATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCATTCCTCCCACCTCAGCCACCTGAGTAGCTGGGACTATAGGCGTGCACCACCAGGCCCAGCTAATTTGTTTGCTAATTTTTTGTAGAGACAGGGTCTCCCTATGTTGCACAGGCTAATCTGGAACTCCTGGGCTCAAGCGATCTTCCTACCTTGGCCTCCCAAAGTGCTGCGATTACAGGTGTGAGCCACCATGCCCAGCCCCTTATTTTTTTTTTAAAAGCACTTCCTTACTTTCTGGCATAAGATATTCCAGGTTCATTTTATACCTATG
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CTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAAGTGTTTGTTAAATAAATGAGTAATTGTAACTCTGCTCTTTTCTAGGTTATAAAGCATATCAGAACGTGAATGAGCACGGCAATATGCTGATAATCTTAAACTGTTAGCTTTGGCATGCAAACTCTTAATAATAAGGAATTATCTACAATAGTTTACAATGTGTGGGTACAGGATAAGGATAATCCTATTCAAGATTACTGCCATTGTTGGTTTGTCATATAACATATGGTCTTTTTTCAAACTCAAAAGCATACAATATTCTAAAAACAAAGATGGGTCCTCAAGTCAGTTGGTCTCCTAACCATTCCTACATTGGAGTGGACTCTTAGTAAATAGGCCACAGGTCCCGGATCTGTTGAGATAAGTGGTGAAATATTGAGGCAGTGGTAGCAGCCCTCCCTCATCCCAGCCAGGCTCTGCATGCATCCTGATCAGATGCCCCATCCAGAGACTTGGGCGAGTCTTCGACCACAGGAAATTAGGCCAATATAGAGGAGTTTCTTATCAGCATGATGGCCTTCTCCATCTGCTGCTGGAGAATGAGGCCCAGCCACCACCTGCCTCTGCCCCAGGGGATGACGGAGCAGCAGGACTCTTCCAAGTGTCAATGGAGAACACAGGATCCAGGTGGATCCACAGAAGGCAACAAGGGGCACGCCCCACCATCTGCTTACTTGGACTTGAGATGCTGAATGGTGCCCATACATCGAAAGGCGCCCTTTACCATGATGGCCAGCCGGGTACACAGTGCCTCACATTCTTCCATGCTGTGGGGCAGGAGAGAGGAGGTGAGCAGGAGAGGATTCCCACCCACCTTCCCCAGCCCTGGGAATCTCTTGCCTGTGGGATGTGAGGACCACAGCCCTCCCTTCTCTGATGATGCTCACGATGACGTTCCACAGCATGCGGCGTGCCTGGGGGTCCATCCCTGTGGTGGGCTCATCCTGGGGGGTGGAGAGAAGGTTGGGGGCACAGGCTGGGAGCTGGCCCTTCTGATTACTGCTTCCCCCTGGGCTGGCTCCCCTGTGGAGGATGAGCTGACAGAAGGCGCACACAGTCACTCCCCTCACTTGAGCAAGACAGGGGTACCCTGGTGTAGGGTAGGGAAGGCAGGAGGTGGATCCAAGAGTAAAGAAGCGTGGCGTCCATCCTGGGCCCATTTCAGCCCACGAGGGGATTAAAGTGGATTAAGGCAATGACAGAATTCTCCTCAAAAAAAGAAAATCCTGCAAATACATTTGTCAGAAGGCAGGGAGGTCACTCAGGTCACTTCCTTGGTTCCCGCTATGTCCTGTGCCCTCATGATCCTTGGGCTGCGTGGGCATGGCCTCAGGCCTGGCCTGGCTCAGCTCAGGAGCCTTTGACCCAGCTCAGTGCTCCTGTATGGGGACCAGACACCGACAGGCCGCAGAGTGGGCTGAACTTCCCGGCTGTGAGCCGATGGCCCCACAGGAGACATCCTGGGAACGCAGGATGTGCGCAGTCCCAAGTCAAGGCTGTGCCGTGACTTGTTTTTCTCCGGAGCTGTGTGAACCAAACACTGGGCTGATCGCTCAAAATGAGCAACACAGGAAACAGTCCAGACTAAAGCCAAACTGCTGCAGTTTCTAAATCTGCCGACCCAGAACCTATTTCCCCAACCCAAGAGACCCAGCACTTGGTTTAAGCCCTTGGTGCGGCCCAAGCCCGCAGTTACCAGCAGCACCAGCGGTGGGCAGCCAATGAGTGCGATGGCTGTGGAGAGTTTCCGCTTGTTGCCCCCACTGTACGTGCCAGCCAGGCAGTCGGCGTAGACAGTCCGGCCCAGGCTCTTAATACTCCAGTTTGCAACCTAGGGAAGAGAAAGAAATGCCATTTGGAGAAGACAAGCAAACACCCCAAACCTCCCCCAGTTCAAAGCCTTGGGCTCCCAGATCTCACGCCTCCAGAATGAAATCCCCAGCTAGGCTGAAACAGGCTCCTGCTGGCTCCTGTCCTCTGGCATGTGCTTCAGGCGCCAGACAGGGGCTCTTTCTCTCTGTGTCTTGGATCCCAGGGTGGCCCAGCCTGCTCAGCATCTGTTGGGTGTAGCCGCCTGGGAAATGGACTTCAGCCTTACAAAGAGCAAGACAGTGGGTCTCGCCCAGCGTCCTGGACCATGGCTAGCAGTGGAGGAGGAAGGCTCTGTTTGAGAAGATGGTGAGTCCCAGACCTGTTGATCCCACCCGTCAAGAGGGTTACACCCAAAGCCTTGTGCATCCGACACATACCTATGGAGCACTGACCATACGCCAGGCACTGAACCAGGCACTGGAGAACAATGTGAACACAGCCATTGCTGCTATCCTCAGACTGCGGGGAGGTGGCAGTCAAAATAAACAGAATACTGGCAGATCGTGACAGTGCTGTGAGGGAACGATGACAGAGACACCAGGTGTGTGTGCACATGCGCAGGAGGGGATCTAGGGAAGCCACTGGAGACAAGCTCACCATGCTTCTGCCTTCTATACTAGTCCCCCGTGCCTGGAATGTTCCTCCCTAGGTGTGCACGTGGCTCCTTCTCTCACCTCTAGTTCTTCATTCAGGTTCTCTCCTCTGCAGGCTCTCCCTGGGCCACCCTACCTCAAAATGCAAACCCTGCCCCAGCAGTTCCTCCCTGCGTTACTTTTCCCTGAGGACTTTTCACTCTCTAATGTACTGGATATTTTACCTATTTATCTACAGATCGTCTATCCCTCCCACTAGAATGTAATCTCCATTTTTAACTTTTTATTTGGAAATAGTTTCAAACTCACACAAACATATAGGAATAAAAATAGTTCATAGAATTATTAACTAATAAAACCCTTCTCTCTCTCACACACAATTTTTTGTGACCCATTTGAGGGTAAATTACTCATCACAGCCCTTCACTCCTAAATACTTCAGGGCATATTTCCTAAGAATAGAGATCTTCTCTTACATAACCACAGTACATTATCAATGTCAGTAAACTTAATGTTATGATACATTTACCTAATCTACTGTTCATAGTTCAGTTTTGTCAGTTGGTCCAATAATATCCTTCTATCATTTTTTTTCTCTTCTGCACAAGATGTAGTCTATTGTCTGCTATTCAGTCATTATGCCTGTTTAGCCTCCTGCGATCAGAGATATTTCCATAGCTCTTTCTTTGTCTTTTATGACTCTTATGTTTTTGAAGAATACAGTCTCCTTTTTTTTTTTTTAAGGAATATTCCTTCTTTGGAGCTTGTCAGATGTTTCCTCATGATAAGATTCAGGTTACATATCTCCAATCTGGATTCTACATAAGTGAAATTGTGTCCTTCACAGGGTATCACATCTCGGGGCATGAGATGTCCATCTGCCCCTTATGGTTAATTTTGATCACCCAGTTAAGGTGCTGTCTAATTTCTCCATTGTAAAATTATTATGTTTCTCCCATGTAACCAATAAGCAATCTGTACAGAGTTACTTTTATTTCTTTAAAATTATATTATTATTATTTTAAGAGACAGAGTCTTGCTCTGTTTCCCAGGCTGGAGAGCAGTGGCTTGATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCATTCCTCCCACCTCAGCCACCTGAGTAGCTGGGACTATAGGCGTGCACCACCAGGCCCAGCTAATTTGTTTGCTAATTTTTTGTAGAGACAGGGTCTCCCTATGTTGCACAGGCTAATCTGGAACTCCTGGGCTCAAGCGATCTTCCTACCTTGGCCTCCCAAAGTGCTGCGATTACAGGTGTGAGCCACCATGCCCAGCCCCTTATTTTTTTTTTAAAAGCACTTCCTTACTTTCTGGCATAAGATATTCCAGGTTCATTTTATACCTATG
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Task1_train_1124
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Consider a variant on Chromosome 1 in gene ABCA4 (ATP binding cassette subfamily A member 4). Determine its clinical classification and disease relevance.
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Pathogenic; Retinitis pigmentosa 19
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CTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAAGTGTTTGTTAAATAAATGAGTAATTGTAACTCTGCTCTTTTCTAGGTTATAAAGCATATCAGAACGTGAATGAGCACGGCAATATGCTGATAATCTTAAACTGTTAGCTTTGGCATGCAAACTCTTAATAATAAGGAATTATCTACAATAGTTTACAATGTGTGGGTACAGGATAAGGATAATCCTATTCAAGATTACTGCCATTGTTGGTTTGTCATATAACATATGGTCTTTTTTCAAACTCAAAAGCATACAATATTCTAAAAACAAAGATGGGTCCTCAAGTCAGTTGGTCTCCTAACCATTCCTACATTGGAGTGGACTCTTAGTAAATAGGCCACAGGTCCCGGATCTGTTGAGATAAGTGGTGAAATATTGAGGCAGTGGTAGCAGCCCTCCCTCATCCCAGCCAGGCTCTGCATGCATCCTGATCAGATGCCCCATCCAGAGACTTGGGCGAGTCTTCGACCACAGGAAATTAGGCCAATATAGAGGAGTTTCTTATCAGCATGATGGCCTTCTCCATCTGCTGCTGGAGAATGAGGCCCAGCCACCACCTGCCTCTGCCCCAGGGGATGACGGAGCAGCAGGACTCTTCCAAGTGTCAATGGAGAACACAGGATCCAGGTGGATCCACAGAAGGCAACAAGGGGCACGCCCCACCATCTGCTTACTTGGACTTGAGATGCTGAATGGTGCCCATACATCGAAAGGCGCCCTTTACCATGATGGCCAGCCGGGTACACAGTGCCTCACATTCTTCCATGCTGTGGGGCAGGAGAGAGGAGGTGAGCAGGAGAGGATTCCCACCCACCTTCCCCAGCCCTGGGAATCTCTTGCCTGTGGGATGTGAGGACCACAGCCCTCCCTTCTCTGATGATGCTCACGATGACGTTCCACAGCATGCGGCGTGCCTGGGGGTCCATCCCTGTGGTGGGCTCATCCTGGGGGGTGGAGAGAAGGTTGGGGGCACAGGCTGGGAGCTGGCCCTTCTGATTACTGCTTCCCCCTGGGCTGGCTCCCCTGTGGAGGATGAGCTGACAGAAGGCGCACACAGTCACTCCCCTCACTTGAGCAAGACAGGGGTACCCTGGTGTAGGGTAGGGAAGGCAGGAGGTGGATCCAAGAGTAAAGAAGCGTGGCGTCCATCCTGGGCCCATTTCAGCCCACGAGGGGATTAAAGTGGATTAAGGCAATGACAGAATTCTCCTCAAAAAAAGAAAATCCTGCAAATACATTTGTCAGAAGGCAGGGAGGTCACTCAGGTCACTTCCTTGGTTCCCGCTATGTCCTGTGCCCTCATGATCCTTGGGCTGCGTGGGCATGGCCTCAGGCCTGGCCTGGCTCAGCTCAGGAGCCTTTGACCCAGCTCAGTGCTCCTGTATGGGGACCAGACACCGACAGGCCGCAGAGTGGGCTGAACTTCCCGGCTGTGAGCCGATGGCCCCACAGGAGACATCCTGGGAACGCAGGATGTGCGCAGTCCCAAGTCAAGGCTGTGCCGTGACTTGTTTTTCTCCGGAGCTGTGTGAACCAAACACTGGGCTGATCGCTCAAAATGAGCAACACAGGAAACAGTCCAGACTAAAGCCAAACTGCTGCAGTTTCTAAATCTGCCGACCCAGAACCTATTTCCCCAACCCAAGAGACCCAGCACTTGGTTTAAGCCCTTGGTGCGGCCCAAGCCCGCAGTTACCAGCAGCACCAGCGGTGGGCAGCCAATGAGTGCGATGGCTGTGGAGAGTTTCCGCTTGTTGCCCCCACTGTACGTGCCAGCCAGGCAGTCGGCGTAGACAGTCAGGCCCAGGCTCTTAATACTCCAGTTTGCAACCTAGGGAAGAGAAAGAAATGCCATTTGGAGAAGACAAGCAAACACCCCAAACCTCCCCCAGTTCAAAGCCTTGGGCTCCCAGATCTCACGCCTCCAGAATGAAATCCCCAGCTAGGCTGAAACAGGCTCCTGCTGGCTCCTGTCCTCTGGCATGTGCTTCAGGCGCCAGACAGGGGCTCTTTCTCTCTGTGTCTTGGATCCCAGGGTGGCCCAGCCTGCTCAGCATCTGTTGGGTGTAGCCGCCTGGGAAATGGACTTCAGCCTTACAAAGAGCAAGACAGTGGGTCTCGCCCAGCGTCCTGGACCATGGCTAGCAGTGGAGGAGGAAGGCTCTGTTTGAGAAGATGGTGAGTCCCAGACCTGTTGATCCCACCCGTCAAGAGGGTTACACCCAAAGCCTTGTGCATCCGACACATACCTATGGAGCACTGACCATACGCCAGGCACTGAACCAGGCACTGGAGAACAATGTGAACACAGCCATTGCTGCTATCCTCAGACTGCGGGGAGGTGGCAGTCAAAATAAACAGAATACTGGCAGATCGTGACAGTGCTGTGAGGGAACGATGACAGAGACACCAGGTGTGTGTGCACATGCGCAGGAGGGGATCTAGGGAAGCCACTGGAGACAAGCTCACCATGCTTCTGCCTTCTATACTAGTCCCCCGTGCCTGGAATGTTCCTCCCTAGGTGTGCACGTGGCTCCTTCTCTCACCTCTAGTTCTTCATTCAGGTTCTCTCCTCTGCAGGCTCTCCCTGGGCCACCCTACCTCAAAATGCAAACCCTGCCCCAGCAGTTCCTCCCTGCGTTACTTTTCCCTGAGGACTTTTCACTCTCTAATGTACTGGATATTTTACCTATTTATCTACAGATCGTCTATCCCTCCCACTAGAATGTAATCTCCATTTTTAACTTTTTATTTGGAAATAGTTTCAAACTCACACAAACATATAGGAATAAAAATAGTTCATAGAATTATTAACTAATAAAACCCTTCTCTCTCTCACACACAATTTTTTGTGACCCATTTGAGGGTAAATTACTCATCACAGCCCTTCACTCCTAAATACTTCAGGGCATATTTCCTAAGAATAGAGATCTTCTCTTACATAACCACAGTACATTATCAATGTCAGTAAACTTAATGTTATGATACATTTACCTAATCTACTGTTCATAGTTCAGTTTTGTCAGTTGGTCCAATAATATCCTTCTATCATTTTTTTTCTCTTCTGCACAAGATGTAGTCTATTGTCTGCTATTCAGTCATTATGCCTGTTTAGCCTCCTGCGATCAGAGATATTTCCATAGCTCTTTCTTTGTCTTTTATGACTCTTATGTTTTTGAAGAATACAGTCTCCTTTTTTTTTTTTTAAGGAATATTCCTTCTTTGGAGCTTGTCAGATGTTTCCTCATGATAAGATTCAGGTTACATATCTCCAATCTGGATTCTACATAAGTGAAATTGTGTCCTTCACAGGGTATCACATCTCGGGGCATGAGATGTCCATCTGCCCCTTATGGTTAATTTTGATCACCCAGTTAAGGTGCTGTCTAATTTCTCCATTGTAAAATTATTATGTTTCTCCCATGTAACCAATAAGCAATCTGTACAGAGTTACTTTTATTTCTTTAAAATTATATTATTATTATTTTAAGAGACAGAGTCTTGCTCTGTTTCCCAGGCTGGAGAGCAGTGGCTTGATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCATTCCTCCCACCTCAGCCACCTGAGTAGCTGGGACTATAGGCGTGCACCACCAGGCCCAGCTAATTTGTTTGCTAATTTTTTGTAGAGACAGGGTCTCCCTATGTTGCACAGGCTAATCTGGAACTCCTGGGCTCAAGCGATCTTCCTACCTTGGCCTCCCAAAGTGCTGCGATTACAGGTGTGAGCCACCATGCCCAGCCCCTTATTTTTTTTTTAAAAGCACTTCCTTACTTTCTGGCATAAGATATTCCAGGTTCATTTTATACCTATG
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CTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAAGTGTTTGTTAAATAAATGAGTAATTGTAACTCTGCTCTTTTCTAGGTTATAAAGCATATCAGAACGTGAATGAGCACGGCAATATGCTGATAATCTTAAACTGTTAGCTTTGGCATGCAAACTCTTAATAATAAGGAATTATCTACAATAGTTTACAATGTGTGGGTACAGGATAAGGATAATCCTATTCAAGATTACTGCCATTGTTGGTTTGTCATATAACATATGGTCTTTTTTCAAACTCAAAAGCATACAATATTCTAAAAACAAAGATGGGTCCTCAAGTCAGTTGGTCTCCTAACCATTCCTACATTGGAGTGGACTCTTAGTAAATAGGCCACAGGTCCCGGATCTGTTGAGATAAGTGGTGAAATATTGAGGCAGTGGTAGCAGCCCTCCCTCATCCCAGCCAGGCTCTGCATGCATCCTGATCAGATGCCCCATCCAGAGACTTGGGCGAGTCTTCGACCACAGGAAATTAGGCCAATATAGAGGAGTTTCTTATCAGCATGATGGCCTTCTCCATCTGCTGCTGGAGAATGAGGCCCAGCCACCACCTGCCTCTGCCCCAGGGGATGACGGAGCAGCAGGACTCTTCCAAGTGTCAATGGAGAACACAGGATCCAGGTGGATCCACAGAAGGCAACAAGGGGCACGCCCCACCATCTGCTTACTTGGACTTGAGATGCTGAATGGTGCCCATACATCGAAAGGCGCCCTTTACCATGATGGCCAGCCGGGTACACAGTGCCTCACATTCTTCCATGCTGTGGGGCAGGAGAGAGGAGGTGAGCAGGAGAGGATTCCCACCCACCTTCCCCAGCCCTGGGAATCTCTTGCCTGTGGGATGTGAGGACCACAGCCCTCCCTTCTCTGATGATGCTCACGATGACGTTCCACAGCATGCGGCGTGCCTGGGGGTCCATCCCTGTGGTGGGCTCATCCTGGGGGGTGGAGAGAAGGTTGGGGGCACAGGCTGGGAGCTGGCCCTTCTGATTACTGCTTCCCCCTGGGCTGGCTCCCCTGTGGAGGATGAGCTGACAGAAGGCGCACACAGTCACTCCCCTCACTTGAGCAAGACAGGGGTACCCTGGTGTAGGGTAGGGAAGGCAGGAGGTGGATCCAAGAGTAAAGAAGCGTGGCGTCCATCCTGGGCCCATTTCAGCCCACGAGGGGATTAAAGTGGATTAAGGCAATGACAGAATTCTCCTCAAAAAAAGAAAATCCTGCAAATACATTTGTCAGAAGGCAGGGAGGTCACTCAGGTCACTTCCTTGGTTCCCGCTATGTCCTGTGCCCTCATGATCCTTGGGCTGCGTGGGCATGGCCTCAGGCCTGGCCTGGCTCAGCTCAGGAGCCTTTGACCCAGCTCAGTGCTCCTGTATGGGGACCAGACACCGACAGGCCGCAGAGTGGGCTGAACTTCCCGGCTGTGAGCCGATGGCCCCACAGGAGACATCCTGGGAACGCAGGATGTGCGCAGTCCCAAGTCAAGGCTGTGCCGTGACTTGTTTTTCTCCGGAGCTGTGTGAACCAAACACTGGGCTGATCGCTCAAAATGAGCAACACAGGAAACAGTCCAGACTAAAGCCAAACTGCTGCAGTTTCTAAATCTGCCGACCCAGAACCTATTTCCCCAACCCAAGAGACCCAGCACTTGGTTTAAGCCCTTGGTGCGGCCCAAGCCCGCAGTTACCAGCAGCACCAGCGGTGGGCAGCCAATGAGTGCGATGGCTGTGGAGAGTTTCCGCTTGTTGCCCCCACTGTACGTGCCAGCCAGGCAGTCGGCGTAGACAGTCCGGCCCAGGCTCTTAATACTCCAGTTTGCAACCTAGGGAAGAGAAAGAAATGCCATTTGGAGAAGACAAGCAAACACCCCAAACCTCCCCCAGTTCAAAGCCTTGGGCTCCCAGATCTCACGCCTCCAGAATGAAATCCCCAGCTAGGCTGAAACAGGCTCCTGCTGGCTCCTGTCCTCTGGCATGTGCTTCAGGCGCCAGACAGGGGCTCTTTCTCTCTGTGTCTTGGATCCCAGGGTGGCCCAGCCTGCTCAGCATCTGTTGGGTGTAGCCGCCTGGGAAATGGACTTCAGCCTTACAAAGAGCAAGACAGTGGGTCTCGCCCAGCGTCCTGGACCATGGCTAGCAGTGGAGGAGGAAGGCTCTGTTTGAGAAGATGGTGAGTCCCAGACCTGTTGATCCCACCCGTCAAGAGGGTTACACCCAAAGCCTTGTGCATCCGACACATACCTATGGAGCACTGACCATACGCCAGGCACTGAACCAGGCACTGGAGAACAATGTGAACACAGCCATTGCTGCTATCCTCAGACTGCGGGGAGGTGGCAGTCAAAATAAACAGAATACTGGCAGATCGTGACAGTGCTGTGAGGGAACGATGACAGAGACACCAGGTGTGTGTGCACATGCGCAGGAGGGGATCTAGGGAAGCCACTGGAGACAAGCTCACCATGCTTCTGCCTTCTATACTAGTCCCCCGTGCCTGGAATGTTCCTCCCTAGGTGTGCACGTGGCTCCTTCTCTCACCTCTAGTTCTTCATTCAGGTTCTCTCCTCTGCAGGCTCTCCCTGGGCCACCCTACCTCAAAATGCAAACCCTGCCCCAGCAGTTCCTCCCTGCGTTACTTTTCCCTGAGGACTTTTCACTCTCTAATGTACTGGATATTTTACCTATTTATCTACAGATCGTCTATCCCTCCCACTAGAATGTAATCTCCATTTTTAACTTTTTATTTGGAAATAGTTTCAAACTCACACAAACATATAGGAATAAAAATAGTTCATAGAATTATTAACTAATAAAACCCTTCTCTCTCTCACACACAATTTTTTGTGACCCATTTGAGGGTAAATTACTCATCACAGCCCTTCACTCCTAAATACTTCAGGGCATATTTCCTAAGAATAGAGATCTTCTCTTACATAACCACAGTACATTATCAATGTCAGTAAACTTAATGTTATGATACATTTACCTAATCTACTGTTCATAGTTCAGTTTTGTCAGTTGGTCCAATAATATCCTTCTATCATTTTTTTTCTCTTCTGCACAAGATGTAGTCTATTGTCTGCTATTCAGTCATTATGCCTGTTTAGCCTCCTGCGATCAGAGATATTTCCATAGCTCTTTCTTTGTCTTTTATGACTCTTATGTTTTTGAAGAATACAGTCTCCTTTTTTTTTTTTTAAGGAATATTCCTTCTTTGGAGCTTGTCAGATGTTTCCTCATGATAAGATTCAGGTTACATATCTCCAATCTGGATTCTACATAAGTGAAATTGTGTCCTTCACAGGGTATCACATCTCGGGGCATGAGATGTCCATCTGCCCCTTATGGTTAATTTTGATCACCCAGTTAAGGTGCTGTCTAATTTCTCCATTGTAAAATTATTATGTTTCTCCCATGTAACCAATAAGCAATCTGTACAGAGTTACTTTTATTTCTTTAAAATTATATTATTATTATTTTAAGAGACAGAGTCTTGCTCTGTTTCCCAGGCTGGAGAGCAGTGGCTTGATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCATTCCTCCCACCTCAGCCACCTGAGTAGCTGGGACTATAGGCGTGCACCACCAGGCCCAGCTAATTTGTTTGCTAATTTTTTGTAGAGACAGGGTCTCCCTATGTTGCACAGGCTAATCTGGAACTCCTGGGCTCAAGCGATCTTCCTACCTTGGCCTCCCAAAGTGCTGCGATTACAGGTGTGAGCCACCATGCCCAGCCCCTTATTTTTTTTTTAAAAGCACTTCCTTACTTTCTGGCATAAGATATTCCAGGTTCATTTTATACCTATG
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Task1_train_1125
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This alteration occurs within gene ABCA4 (ATP binding cassette subfamily A member 4) located on Chromosome 1. Is it associated with a disease or is it a benign variant?
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Pathogenic; Severe early-childhood-onset retinal dystrophy
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CTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAAGTGTTTGTTAAATAAATGAGTAATTGTAACTCTGCTCTTTTCTAGGTTATAAAGCATATCAGAACGTGAATGAGCACGGCAATATGCTGATAATCTTAAACTGTTAGCTTTGGCATGCAAACTCTTAATAATAAGGAATTATCTACAATAGTTTACAATGTGTGGGTACAGGATAAGGATAATCCTATTCAAGATTACTGCCATTGTTGGTTTGTCATATAACATATGGTCTTTTTTCAAACTCAAAAGCATACAATATTCTAAAAACAAAGATGGGTCCTCAAGTCAGTTGGTCTCCTAACCATTCCTACATTGGAGTGGACTCTTAGTAAATAGGCCACAGGTCCCGGATCTGTTGAGATAAGTGGTGAAATATTGAGGCAGTGGTAGCAGCCCTCCCTCATCCCAGCCAGGCTCTGCATGCATCCTGATCAGATGCCCCATCCAGAGACTTGGGCGAGTCTTCGACCACAGGAAATTAGGCCAATATAGAGGAGTTTCTTATCAGCATGATGGCCTTCTCCATCTGCTGCTGGAGAATGAGGCCCAGCCACCACCTGCCTCTGCCCCAGGGGATGACGGAGCAGCAGGACTCTTCCAAGTGTCAATGGAGAACACAGGATCCAGGTGGATCCACAGAAGGCAACAAGGGGCACGCCCCACCATCTGCTTACTTGGACTTGAGATGCTGAATGGTGCCCATACATCGAAAGGCGCCCTTTACCATGATGGCCAGCCGGGTACACAGTGCCTCACATTCTTCCATGCTGTGGGGCAGGAGAGAGGAGGTGAGCAGGAGAGGATTCCCACCCACCTTCCCCAGCCCTGGGAATCTCTTGCCTGTGGGATGTGAGGACCACAGCCCTCCCTTCTCTGATGATGCTCACGATGACGTTCCACAGCATGCGGCGTGCCTGGGGGTCCATCCCTGTGGTGGGCTCATCCTGGGGGGTGGAGAGAAGGTTGGGGGCACAGGCTGGGAGCTGGCCCTTCTGATTACTGCTTCCCCCTGGGCTGGCTCCCCTGTGGAGGATGAGCTGACAGAAGGCGCACACAGTCACTCCCCTCACTTGAGCAAGACAGGGGTACCCTGGTGTAGGGTAGGGAAGGCAGGAGGTGGATCCAAGAGTAAAGAAGCGTGGCGTCCATCCTGGGCCCATTTCAGCCCACGAGGGGATTAAAGTGGATTAAGGCAATGACAGAATTCTCCTCAAAAAAAGAAAATCCTGCAAATACATTTGTCAGAAGGCAGGGAGGTCACTCAGGTCACTTCCTTGGTTCCCGCTATGTCCTGTGCCCTCATGATCCTTGGGCTGCGTGGGCATGGCCTCAGGCCTGGCCTGGCTCAGCTCAGGAGCCTTTGACCCAGCTCAGTGCTCCTGTATGGGGACCAGACACCGACAGGCCGCAGAGTGGGCTGAACTTCCCGGCTGTGAGCCGATGGCCCCACAGGAGACATCCTGGGAACGCAGGATGTGCGCAGTCCCAAGTCAAGGCTGTGCCGTGACTTGTTTTTCTCCGGAGCTGTGTGAACCAAACACTGGGCTGATCGCTCAAAATGAGCAACACAGGAAACAGTCCAGACTAAAGCCAAACTGCTGCAGTTTCTAAATCTGCCGACCCAGAACCTATTTCCCCAACCCAAGAGACCCAGCACTTGGTTTAAGCCCTTGGTGCGGCCCAAGCCCGCAGTTACCAGCAGCACCAGCGGTGGGCAGCCAATGAGTGCGATGGCTGTGGAGAGTTTCCGCTTGTTGCCCCCACTGTACGTGCCAGCCAGGCAGTCGGCGTAGACAGTCAGGCCCAGGCTCTTAATACTCCAGTTTGCAACCTAGGGAAGAGAAAGAAATGCCATTTGGAGAAGACAAGCAAACACCCCAAACCTCCCCCAGTTCAAAGCCTTGGGCTCCCAGATCTCACGCCTCCAGAATGAAATCCCCAGCTAGGCTGAAACAGGCTCCTGCTGGCTCCTGTCCTCTGGCATGTGCTTCAGGCGCCAGACAGGGGCTCTTTCTCTCTGTGTCTTGGATCCCAGGGTGGCCCAGCCTGCTCAGCATCTGTTGGGTGTAGCCGCCTGGGAAATGGACTTCAGCCTTACAAAGAGCAAGACAGTGGGTCTCGCCCAGCGTCCTGGACCATGGCTAGCAGTGGAGGAGGAAGGCTCTGTTTGAGAAGATGGTGAGTCCCAGACCTGTTGATCCCACCCGTCAAGAGGGTTACACCCAAAGCCTTGTGCATCCGACACATACCTATGGAGCACTGACCATACGCCAGGCACTGAACCAGGCACTGGAGAACAATGTGAACACAGCCATTGCTGCTATCCTCAGACTGCGGGGAGGTGGCAGTCAAAATAAACAGAATACTGGCAGATCGTGACAGTGCTGTGAGGGAACGATGACAGAGACACCAGGTGTGTGTGCACATGCGCAGGAGGGGATCTAGGGAAGCCACTGGAGACAAGCTCACCATGCTTCTGCCTTCTATACTAGTCCCCCGTGCCTGGAATGTTCCTCCCTAGGTGTGCACGTGGCTCCTTCTCTCACCTCTAGTTCTTCATTCAGGTTCTCTCCTCTGCAGGCTCTCCCTGGGCCACCCTACCTCAAAATGCAAACCCTGCCCCAGCAGTTCCTCCCTGCGTTACTTTTCCCTGAGGACTTTTCACTCTCTAATGTACTGGATATTTTACCTATTTATCTACAGATCGTCTATCCCTCCCACTAGAATGTAATCTCCATTTTTAACTTTTTATTTGGAAATAGTTTCAAACTCACACAAACATATAGGAATAAAAATAGTTCATAGAATTATTAACTAATAAAACCCTTCTCTCTCTCACACACAATTTTTTGTGACCCATTTGAGGGTAAATTACTCATCACAGCCCTTCACTCCTAAATACTTCAGGGCATATTTCCTAAGAATAGAGATCTTCTCTTACATAACCACAGTACATTATCAATGTCAGTAAACTTAATGTTATGATACATTTACCTAATCTACTGTTCATAGTTCAGTTTTGTCAGTTGGTCCAATAATATCCTTCTATCATTTTTTTTCTCTTCTGCACAAGATGTAGTCTATTGTCTGCTATTCAGTCATTATGCCTGTTTAGCCTCCTGCGATCAGAGATATTTCCATAGCTCTTTCTTTGTCTTTTATGACTCTTATGTTTTTGAAGAATACAGTCTCCTTTTTTTTTTTTTAAGGAATATTCCTTCTTTGGAGCTTGTCAGATGTTTCCTCATGATAAGATTCAGGTTACATATCTCCAATCTGGATTCTACATAAGTGAAATTGTGTCCTTCACAGGGTATCACATCTCGGGGCATGAGATGTCCATCTGCCCCTTATGGTTAATTTTGATCACCCAGTTAAGGTGCTGTCTAATTTCTCCATTGTAAAATTATTATGTTTCTCCCATGTAACCAATAAGCAATCTGTACAGAGTTACTTTTATTTCTTTAAAATTATATTATTATTATTTTAAGAGACAGAGTCTTGCTCTGTTTCCCAGGCTGGAGAGCAGTGGCTTGATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCATTCCTCCCACCTCAGCCACCTGAGTAGCTGGGACTATAGGCGTGCACCACCAGGCCCAGCTAATTTGTTTGCTAATTTTTTGTAGAGACAGGGTCTCCCTATGTTGCACAGGCTAATCTGGAACTCCTGGGCTCAAGCGATCTTCCTACCTTGGCCTCCCAAAGTGCTGCGATTACAGGTGTGAGCCACCATGCCCAGCCCCTTATTTTTTTTTTAAAAGCACTTCCTTACTTTCTGGCATAAGATATTCCAGGTTCATTTTATACCTATG
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CTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAAGTGTTTGTTAAATAAATGAGTAATTGTAACTCTGCTCTTTTCTAGGTTATAAAGCATATCAGAACGTGAATGAGCACGGCAATATGCTGATAATCTTAAACTGTTAGCTTTGGCATGCAAACTCTTAATAATAAGGAATTATCTACAATAGTTTACAATGTGTGGGTACAGGATAAGGATAATCCTATTCAAGATTACTGCCATTGTTGGTTTGTCATATAACATATGGTCTTTTTTCAAACTCAAAAGCATACAATATTCTAAAAACAAAGATGGGTCCTCAAGTCAGTTGGTCTCCTAACCATTCCTACATTGGAGTGGACTCTTAGTAAATAGGCCACAGGTCCCGGATCTGTTGAGATAAGTGGTGAAATATTGAGGCAGTGGTAGCAGCCCTCCCTCATCCCAGCCAGGCTCTGCATGCATCCTGATCAGATGCCCCATCCAGAGACTTGGGCGAGTCTTCGACCACAGGAAATTAGGCCAATATAGAGGAGTTTCTTATCAGCATGATGGCCTTCTCCATCTGCTGCTGGAGAATGAGGCCCAGCCACCACCTGCCTCTGCCCCAGGGGATGACGGAGCAGCAGGACTCTTCCAAGTGTCAATGGAGAACACAGGATCCAGGTGGATCCACAGAAGGCAACAAGGGGCACGCCCCACCATCTGCTTACTTGGACTTGAGATGCTGAATGGTGCCCATACATCGAAAGGCGCCCTTTACCATGATGGCCAGCCGGGTACACAGTGCCTCACATTCTTCCATGCTGTGGGGCAGGAGAGAGGAGGTGAGCAGGAGAGGATTCCCACCCACCTTCCCCAGCCCTGGGAATCTCTTGCCTGTGGGATGTGAGGACCACAGCCCTCCCTTCTCTGATGATGCTCACGATGACGTTCCACAGCATGCGGCGTGCCTGGGGGTCCATCCCTGTGGTGGGCTCATCCTGGGGGGTGGAGAGAAGGTTGGGGGCACAGGCTGGGAGCTGGCCCTTCTGATTACTGCTTCCCCCTGGGCTGGCTCCCCTGTGGAGGATGAGCTGACAGAAGGCGCACACAGTCACTCCCCTCACTTGAGCAAGACAGGGGTACCCTGGTGTAGGGTAGGGAAGGCAGGAGGTGGATCCAAGAGTAAAGAAGCGTGGCGTCCATCCTGGGCCCATTTCAGCCCACGAGGGGATTAAAGTGGATTAAGGCAATGACAGAATTCTCCTCAAAAAAAGAAAATCCTGCAAATACATTTGTCAGAAGGCAGGGAGGTCACTCAGGTCACTTCCTTGGTTCCCGCTATGTCCTGTGCCCTCATGATCCTTGGGCTGCGTGGGCATGGCCTCAGGCCTGGCCTGGCTCAGCTCAGGAGCCTTTGACCCAGCTCAGTGCTCCTGTATGGGGACCAGACACCGACAGGCCGCAGAGTGGGCTGAACTTCCCGGCTGTGAGCCGATGGCCCCACAGGAGACATCCTGGGAACGCAGGATGTGCGCAGTCCCAAGTCAAGGCTGTGCCGTGACTTGTTTTTCTCCGGAGCTGTGTGAACCAAACACTGGGCTGATCGCTCAAAATGAGCAACACAGGAAACAGTCCAGACTAAAGCCAAACTGCTGCAGTTTCTAAATCTGCCGACCCAGAACCTATTTCCCCAACCCAAGAGACCCAGCACTTGGTTTAAGCCCTTGGTGCGGCCCAAGCCCGCAGTTACCAGCAGCACCAGCGGTGGGCAGCCAATGAGTGCGATGGCTGTGGAGAGTTTCCGCTTGTTGCCCCCACTGTACGTGCCAGCCAGGCAGTCGGCGTAGACAGTCCGGCCCAGGCTCTTAATACTCCAGTTTGCAACCTAGGGAAGAGAAAGAAATGCCATTTGGAGAAGACAAGCAAACACCCCAAACCTCCCCCAGTTCAAAGCCTTGGGCTCCCAGATCTCACGCCTCCAGAATGAAATCCCCAGCTAGGCTGAAACAGGCTCCTGCTGGCTCCTGTCCTCTGGCATGTGCTTCAGGCGCCAGACAGGGGCTCTTTCTCTCTGTGTCTTGGATCCCAGGGTGGCCCAGCCTGCTCAGCATCTGTTGGGTGTAGCCGCCTGGGAAATGGACTTCAGCCTTACAAAGAGCAAGACAGTGGGTCTCGCCCAGCGTCCTGGACCATGGCTAGCAGTGGAGGAGGAAGGCTCTGTTTGAGAAGATGGTGAGTCCCAGACCTGTTGATCCCACCCGTCAAGAGGGTTACACCCAAAGCCTTGTGCATCCGACACATACCTATGGAGCACTGACCATACGCCAGGCACTGAACCAGGCACTGGAGAACAATGTGAACACAGCCATTGCTGCTATCCTCAGACTGCGGGGAGGTGGCAGTCAAAATAAACAGAATACTGGCAGATCGTGACAGTGCTGTGAGGGAACGATGACAGAGACACCAGGTGTGTGTGCACATGCGCAGGAGGGGATCTAGGGAAGCCACTGGAGACAAGCTCACCATGCTTCTGCCTTCTATACTAGTCCCCCGTGCCTGGAATGTTCCTCCCTAGGTGTGCACGTGGCTCCTTCTCTCACCTCTAGTTCTTCATTCAGGTTCTCTCCTCTGCAGGCTCTCCCTGGGCCACCCTACCTCAAAATGCAAACCCTGCCCCAGCAGTTCCTCCCTGCGTTACTTTTCCCTGAGGACTTTTCACTCTCTAATGTACTGGATATTTTACCTATTTATCTACAGATCGTCTATCCCTCCCACTAGAATGTAATCTCCATTTTTAACTTTTTATTTGGAAATAGTTTCAAACTCACACAAACATATAGGAATAAAAATAGTTCATAGAATTATTAACTAATAAAACCCTTCTCTCTCTCACACACAATTTTTTGTGACCCATTTGAGGGTAAATTACTCATCACAGCCCTTCACTCCTAAATACTTCAGGGCATATTTCCTAAGAATAGAGATCTTCTCTTACATAACCACAGTACATTATCAATGTCAGTAAACTTAATGTTATGATACATTTACCTAATCTACTGTTCATAGTTCAGTTTTGTCAGTTGGTCCAATAATATCCTTCTATCATTTTTTTTCTCTTCTGCACAAGATGTAGTCTATTGTCTGCTATTCAGTCATTATGCCTGTTTAGCCTCCTGCGATCAGAGATATTTCCATAGCTCTTTCTTTGTCTTTTATGACTCTTATGTTTTTGAAGAATACAGTCTCCTTTTTTTTTTTTTAAGGAATATTCCTTCTTTGGAGCTTGTCAGATGTTTCCTCATGATAAGATTCAGGTTACATATCTCCAATCTGGATTCTACATAAGTGAAATTGTGTCCTTCACAGGGTATCACATCTCGGGGCATGAGATGTCCATCTGCCCCTTATGGTTAATTTTGATCACCCAGTTAAGGTGCTGTCTAATTTCTCCATTGTAAAATTATTATGTTTCTCCCATGTAACCAATAAGCAATCTGTACAGAGTTACTTTTATTTCTTTAAAATTATATTATTATTATTTTAAGAGACAGAGTCTTGCTCTGTTTCCCAGGCTGGAGAGCAGTGGCTTGATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCATTCCTCCCACCTCAGCCACCTGAGTAGCTGGGACTATAGGCGTGCACCACCAGGCCCAGCTAATTTGTTTGCTAATTTTTTGTAGAGACAGGGTCTCCCTATGTTGCACAGGCTAATCTGGAACTCCTGGGCTCAAGCGATCTTCCTACCTTGGCCTCCCAAAGTGCTGCGATTACAGGTGTGAGCCACCATGCCCAGCCCCTTATTTTTTTTTTAAAAGCACTTCCTTACTTTCTGGCATAAGATATTCCAGGTTCATTTTATACCTATG
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Task1_train_1126
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This variant impacts the gene ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Is the change likely to result in a pathogenic outcome?
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Pathogenic; not provided
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CAGGTTACATATCTCCAATCTGGATTCTACATAAGTGAAATTGTGTCCTTCACAGGGTATCACATCTCGGGGCATGAGATGTCCATCTGCCCCTTATGGTTAATTTTGATCACCCAGTTAAGGTGCTGTCTAATTTCTCCATTGTAAAATTATTATGTTTCTCCCATGTAACCAATAAGCAATCTGTACAGAGTTACTTTTATTTCTTTAAAATTATATTATTATTATTTTAAGAGACAGAGTCTTGCTCTGTTTCCCAGGCTGGAGAGCAGTGGCTTGATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCATTCCTCCCACCTCAGCCACCTGAGTAGCTGGGACTATAGGCGTGCACCACCAGGCCCAGCTAATTTGTTTGCTAATTTTTTGTAGAGACAGGGTCTCCCTATGTTGCACAGGCTAATCTGGAACTCCTGGGCTCAAGCGATCTTCCTACCTTGGCCTCCCAAAGTGCTGCGATTACAGGTGTGAGCCACCATGCCCAGCCCCTTATTTTTTTTTTAAAAGCACTTCCTTACTTTCTGGCATAAGATATTCCAGGTTCATTTTATACCTATGCCATTCCAGCCCTGGAACTTATCATTTATTGGAGGAATCAGGGTTACTTTTAGTGGGGAATGTTATTAAGACAAAAGCCTGAGTGCTAAGTGTGCTCATGGCTACTGGGGTGTTTTTGCTTCTTGAGCCTTTCGGAAGACAGATACACACATGCAAATATATGTCTATATATACATGCCTATGTGCATGAAACATGAACACATCTGCATGCACCCACAAACACAAGCATATAAATATTCCTGAATTCCCAGTGCTACCTCCGGTTCCTATCCATGACCTCACAGTTCTTTCTTGCTTTTCCCTTTTCCATATTTGTAAGTCCCTTCTTCCACGGTGAGAATTCTGGGTCCCAATAACATCAAAACATTTATTAATTTATTTAATCCTGTAACACATCTAAAATTTTCAGAATCACTTTGCCTATACCACTATAAAAAACAAACTAAAAAGAACTCAGAAATTATTTGTAGTTCTTCTCCCCCGCTCCACCCTGCCCAAGAATGAGGATATAGAGTCAAACACTGTGTTCAGCAGTTGTTTGTGTTAGCTCTATCCCCCTTTTGCAAGATTATGATATTTATTTGAAATAAAATTGGGTTACTTTATTTAGTTTGCTGTCAGTGTTAGGTTTTCTTTTTGTTTTCATTTTTGCCTACTTCCCATTCTTACTGATTTTTTTTGAATATGTGGAACATTAACATGCTTCCAAAAATTAAAACTATACAAAAATATATCCCCAGAAGTACTGTTTCCTCCCATTTTTCTTTCTTCCCATTTTCTTCTTGTTGATCACCAAATTCATTGTTTTCTGGTTTATCCTTTCTACGTTCTATTTGCAAAGGTAAGCAGACATACGTTTACTTTCTTGTTTTTCCTTCTTTCTTACATACAAAGTAGCGTTCTCTATGTTCTGTTTTCCACTTTGCTTTTTATCATTTAACAGTATTTACTGGAAATATCTCCATATCAGTTTACTGAGACTTTTCTTCTTCTTTTTTATAGTTGCGTAAGACTTTATTGTGTGTCTGTACCATAAATTATTCAGCCAATCTACAATGACTAAACATTTAGGTAACTTCCAGCATTTTGCAATTACAAATGCAATGGATCACCTTATACATATTCATTTTGCACTGTGGGAGATGCATCTTCAGGATAAACTCTTAGACGTGTGATTGCTGAGTCAGAGGATAAATGCATACAACATTTTGTTAGATATGAGAGTGGGGATTTTTTTTTGTCTGTCTTGTTCACTGCTATACTCCTGGTTTCTAGAACAGTACTTGGCACACAGTAGACACATAGTAAACATTTGTTGGAATGAATGAATGAATAGCACGCTTCAGTTTCTCATCTCCAAGAGAATGCACTCTCATGAAACAGGCTTGTAATTAACCAGACTCCTATGTGGCCACAACAAAACATTTTTCACCTTTTCGATTTCTTCTGCTGGTACACCTCGAAGCCGGGCATAAAGGTAAAGATGTTCTCGTCCTGTGAGCAGCTCATCAATTGCATCAAACTGAGGACAGTAGCCCATATTTTGATGGACTTCAGAAATATTGGTTAAAATACTGCAAGAAAAAAAGCAATTACTGAGTATCCTTCAAGGAGTGGAGGGATGACCATAGAGCTAGGGCTGGAGAAGCTTCTGCCAACGGGAAAAGGAAGCTGCTTCTTCTCTTCTCCTATTTGGCTTCAGAAATGCATGGGATATTTGGGAATCAAAACAGGGGCCCTTCGGTTAGAAACTGAATCCTGTCAGATTCTTCCATGTTTCCATGTCTAGGATTAATTGAATCCCTGTTACGCCAAAAGTCAGCTTTCATTTTGGATCAGATCACCTCACATGTGAGTTTAAAAACAGAGGGAAGATCAGGTTTAAGAAAATGATTCATGATTTATCAATAATTTTCAGACATTTGGGAAGTAACTAGAAAAGATGCATGTGTCCCGATGGAAGTAAACTTCTCTATCTGTATTTATTGGCAAAGATAGCAATGAAAGAGGAGCCAGTCAGATAACTACCCACAGCGAGAGGCCTGCAGGGAGCAGGGGTAGAGTGAGTTGGGTTCCACCAACTCCCTTTGGCTAATATATTCACCCCCACTAAAAAATATATTGCCAAGATGGAAAATAAACTATACATAGACATTTAGTCTAATCTCATCCTTTTCTTCTTATAGCTTAGGGTCTATGAATAAAGGATGGATGATATAGGATGGTACAGAGAGACCATTACAGTTCCCCACAATGACAAAAGCCACCAAAGGCATGGCTGGGCCAATTAAAACTACTCAGGGAAGCAAGTAGGGTACGTTTCCAAATTAGTGGGAGCTACCCTACCATATAATCCCAATTCTGTGTCTTAAGCCTATAGTTTCTTTCTAGCGTCCAGCTCAGTTTTACCTTCTGGATGTCAGACTGTGCCTCACTTGGACACAGTTGTAACTTGATGTCTCATAAATGTGCTCATGGAAAATTCTATGATATCTTTCCCCTGCCATGGTATGATATCTCTACCCTGCCATGACTCCTTTTGTCACCATGAGGAAGTCACCTGCGTGGTCACTTGCAGGTGAAGCTGGATCTGTTGAGATGGACTCAGCCATGACCTGGCTTCACCCCTGCCTGTCCCTTTTCTGTAAACCCAGTAGGGCTGGCTATGGAGGCCAAAGAATCAAATTCATCCTGTCTGAGCCAGTGAAGCGTGCTCAGGACTCGTCCTGCCCACTGGGCATTGGGCCATGCTGAGGATGGCTTTCAGGAGAGAGGAAGAGGCCCCAGTCAAGCAGATGCTGGACAGATGTCAGCAGCACCTAACTCCACTTATAAACCAGGGCAGAGGCTTCCTCTGGGCACCTCTATTGTGTGTGCTGAAGTTTTACTGTTCAAGCTTTTCCTGCAGCCAGGAAAGAGGCAGATGAGTGAGAGCTCATCCTCTCTGTCCTGCCCATAGGGGACCAGTCTGTTTAAACACATTTTATTACAGAGAGCAGCAGTCACCCTCCAGAATCCAAGGGCACACGCCAGTTTTCCCTCTATGCTCCTTGGTCTGGCAAAGCCAAATATCAGCCTACAAATAGCCAATGCAGGTTAGGCTACCCCAAAGGCCCATGCATGAGCCCCTATCTAGAAACTCAACCCAGAGGAAGGATTCTTCATTCATCACAGGGGTTCTTAACCTGGGATTCAAGAGCTCCTGCAGGATCATAAATGTGACCTGGGGCTCAGTAAACTCCCTGAAACGTTTTGTAAAAATGTGTGGAGGGAGGTAATGGGAAGCAATGGTGCATTTTTATAGGAATAGGCTACAAATATTCATCAGATGCTTAAAAGGTTCCGTGACCTCTAAGAGATTAAGAACCACACACTTAGTGCTTCCCAGGTCTTTCCAAGAATCCATCCCAACAGAGGAATCTCTTAACTATCACAATTCAGTTCACTTTTCCATTGGGTCTATGTGTTGGGCTTTTTGGGCCATGCTCTCTGGGAGGCCTCCTTCT
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CAGGTTACATATCTCCAATCTGGATTCTACATAAGTGAAATTGTGTCCTTCACAGGGTATCACATCTCGGGGCATGAGATGTCCATCTGCCCCTTATGGTTAATTTTGATCACCCAGTTAAGGTGCTGTCTAATTTCTCCATTGTAAAATTATTATGTTTCTCCCATGTAACCAATAAGCAATCTGTACAGAGTTACTTTTATTTCTTTAAAATTATATTATTATTATTTTAAGAGACAGAGTCTTGCTCTGTTTCCCAGGCTGGAGAGCAGTGGCTTGATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCATTCCTCCCACCTCAGCCACCTGAGTAGCTGGGACTATAGGCGTGCACCACCAGGCCCAGCTAATTTGTTTGCTAATTTTTTGTAGAGACAGGGTCTCCCTATGTTGCACAGGCTAATCTGGAACTCCTGGGCTCAAGCGATCTTCCTACCTTGGCCTCCCAAAGTGCTGCGATTACAGGTGTGAGCCACCATGCCCAGCCCCTTATTTTTTTTTTAAAAGCACTTCCTTACTTTCTGGCATAAGATATTCCAGGTTCATTTTATACCTATGCCATTCCAGCCCTGGAACTTATCATTTATTGGAGGAATCAGGGTTACTTTTAGTGGGGAATGTTATTAAGACAAAAGCCTGAGTGCTAAGTGTGCTCATGGCTACTGGGGTGTTTTTGCTTCTTGAGCCTTTCGGAAGACAGATACACACATGCAAATATATGTCTATATATACATGCCTATGTGCATGAAACATGAACACATCTGCATGCACCCACAAACACAAGCATATAAATATTCCTGAATTCCCAGTGCTACCTCCGGTTCCTATCCATGACCTCACAGTTCTTTCTTGCTTTTCCCTTTTCCATATTTGTAAGTCCCTTCTTCCACGGTGAGAATTCTGGGTCCCAATAACATCAAAACATTTATTAATTTATTTAATCCTGTAACACATCTAAAATTTTCAGAATCACTTTGCCTATACCACTATAAAAAACAAACTAAAAAGAACTCAGAAATTATTTGTAGTTCTTCTCCCCCGCTCCACCCTGCCCAAGAATGAGGATATAGAGTCAAACACTGTGTTCAGCAGTTGTTTGTGTTAGCTCTATCCCCCTTTTGCAAGATTATGATATTTATTTGAAATAAAATTGGGTTACTTTATTTAGTTTGCTGTCAGTGTTAGGTTTTCTTTTTGTTTTCATTTTTGCCTACTTCCCATTCTTACTGATTTTTTTTGAATATGTGGAACATTAACATGCTTCCAAAAATTAAAACTATACAAAAATATATCCCCAGAAGTACTGTTTCCTCCCATTTTTCTTTCTTCCCATTTTCTTCTTGTTGATCACCAAATTCATTGTTTTCTGGTTTATCCTTTCTACGTTCTATTTGCAAAGGTAAGCAGACATACGTTTACTTTCTTGTTTTTCCTTCTTTCTTACATACAAAGTAGCGTTCTCTATGTTCTGTTTTCCACTTTGCTTTTTATCATTTAACAGTATTTACTGGAAATATCTCCATATCAGTTTACTGAGACTTTTCTTCTTCTTTTTTATAGTTGCGTAAGACTTTATTGTGTGTCTGTACCATAAATTATTCAGCCAATCTACAATGACTAAACATTTAGGTAACTTCCAGCATTTTGCAATTACAAATGCAATGGATCACCTTATACATATTCATTTTGCACTGTGGGAGATGCATCTTCAGGATAAACTCTTAGACGTGTGATTGCTGAGTCAGAGGATAAATGCATACAACATTTTGTTAGATATGAGAGTGGGGATTTTTTTTTGTCTGTCTTGTTCACTGCTATACTCCTGGTTTCTAGAACAGTACTTGGCACACAGTAGACACATAGTAAACATTTGTTGGAATGAATGAATGAATAGCACGCTTCAGTTTCTCATCTCCAAGAGAATGCACTCTCATGAAACAGGCTTGTAATTAACCAGACTCCTATGTGGCCACAACAAAACATTTTTCACCTTTTCGATTTCTTCTGCTGGTACACTTCGAAGCCGGGCATAAAGGTAAAGATGTTCTCGTCCTGTGAGCAGCTCATCAATTGCATCAAACTGAGGACAGTAGCCCATATTTTGATGGACTTCAGAAATATTGGTTAAAATACTGCAAGAAAAAAAGCAATTACTGAGTATCCTTCAAGGAGTGGAGGGATGACCATAGAGCTAGGGCTGGAGAAGCTTCTGCCAACGGGAAAAGGAAGCTGCTTCTTCTCTTCTCCTATTTGGCTTCAGAAATGCATGGGATATTTGGGAATCAAAACAGGGGCCCTTCGGTTAGAAACTGAATCCTGTCAGATTCTTCCATGTTTCCATGTCTAGGATTAATTGAATCCCTGTTACGCCAAAAGTCAGCTTTCATTTTGGATCAGATCACCTCACATGTGAGTTTAAAAACAGAGGGAAGATCAGGTTTAAGAAAATGATTCATGATTTATCAATAATTTTCAGACATTTGGGAAGTAACTAGAAAAGATGCATGTGTCCCGATGGAAGTAAACTTCTCTATCTGTATTTATTGGCAAAGATAGCAATGAAAGAGGAGCCAGTCAGATAACTACCCACAGCGAGAGGCCTGCAGGGAGCAGGGGTAGAGTGAGTTGGGTTCCACCAACTCCCTTTGGCTAATATATTCACCCCCACTAAAAAATATATTGCCAAGATGGAAAATAAACTATACATAGACATTTAGTCTAATCTCATCCTTTTCTTCTTATAGCTTAGGGTCTATGAATAAAGGATGGATGATATAGGATGGTACAGAGAGACCATTACAGTTCCCCACAATGACAAAAGCCACCAAAGGCATGGCTGGGCCAATTAAAACTACTCAGGGAAGCAAGTAGGGTACGTTTCCAAATTAGTGGGAGCTACCCTACCATATAATCCCAATTCTGTGTCTTAAGCCTATAGTTTCTTTCTAGCGTCCAGCTCAGTTTTACCTTCTGGATGTCAGACTGTGCCTCACTTGGACACAGTTGTAACTTGATGTCTCATAAATGTGCTCATGGAAAATTCTATGATATCTTTCCCCTGCCATGGTATGATATCTCTACCCTGCCATGACTCCTTTTGTCACCATGAGGAAGTCACCTGCGTGGTCACTTGCAGGTGAAGCTGGATCTGTTGAGATGGACTCAGCCATGACCTGGCTTCACCCCTGCCTGTCCCTTTTCTGTAAACCCAGTAGGGCTGGCTATGGAGGCCAAAGAATCAAATTCATCCTGTCTGAGCCAGTGAAGCGTGCTCAGGACTCGTCCTGCCCACTGGGCATTGGGCCATGCTGAGGATGGCTTTCAGGAGAGAGGAAGAGGCCCCAGTCAAGCAGATGCTGGACAGATGTCAGCAGCACCTAACTCCACTTATAAACCAGGGCAGAGGCTTCCTCTGGGCACCTCTATTGTGTGTGCTGAAGTTTTACTGTTCAAGCTTTTCCTGCAGCCAGGAAAGAGGCAGATGAGTGAGAGCTCATCCTCTCTGTCCTGCCCATAGGGGACCAGTCTGTTTAAACACATTTTATTACAGAGAGCAGCAGTCACCCTCCAGAATCCAAGGGCACACGCCAGTTTTCCCTCTATGCTCCTTGGTCTGGCAAAGCCAAATATCAGCCTACAAATAGCCAATGCAGGTTAGGCTACCCCAAAGGCCCATGCATGAGCCCCTATCTAGAAACTCAACCCAGAGGAAGGATTCTTCATTCATCACAGGGGTTCTTAACCTGGGATTCAAGAGCTCCTGCAGGATCATAAATGTGACCTGGGGCTCAGTAAACTCCCTGAAACGTTTTGTAAAAATGTGTGGAGGGAGGTAATGGGAAGCAATGGTGCATTTTTATAGGAATAGGCTACAAATATTCATCAGATGCTTAAAAGGTTCCGTGACCTCTAAGAGATTAAGAACCACACACTTAGTGCTTCCCAGGTCTTTCCAAGAATCCATCCCAACAGAGGAATCTCTTAACTATCACAATTCAGTTCACTTTTCCATTGGGTCTATGTGTTGGGCTTTTTGGGCCATGCTCTCTGGGAGGCCTCCTTCT
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Task1_train_1127
|
A genomic change on Chromosome 1 affects ABCA4 (ATP binding cassette subfamily A member 4). Classify this variant as benign or pathogenic, and name the disease if relevant.
|
Pathogenic; Severe early-childhood-onset retinal dystrophy
|
TATCTCCAATCTGGATTCTACATAAGTGAAATTGTGTCCTTCACAGGGTATCACATCTCGGGGCATGAGATGTCCATCTGCCCCTTATGGTTAATTTTGATCACCCAGTTAAGGTGCTGTCTAATTTCTCCATTGTAAAATTATTATGTTTCTCCCATGTAACCAATAAGCAATCTGTACAGAGTTACTTTTATTTCTTTAAAATTATATTATTATTATTTTAAGAGACAGAGTCTTGCTCTGTTTCCCAGGCTGGAGAGCAGTGGCTTGATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCATTCCTCCCACCTCAGCCACCTGAGTAGCTGGGACTATAGGCGTGCACCACCAGGCCCAGCTAATTTGTTTGCTAATTTTTTGTAGAGACAGGGTCTCCCTATGTTGCACAGGCTAATCTGGAACTCCTGGGCTCAAGCGATCTTCCTACCTTGGCCTCCCAAAGTGCTGCGATTACAGGTGTGAGCCACCATGCCCAGCCCCTTATTTTTTTTTTAAAAGCACTTCCTTACTTTCTGGCATAAGATATTCCAGGTTCATTTTATACCTATGCCATTCCAGCCCTGGAACTTATCATTTATTGGAGGAATCAGGGTTACTTTTAGTGGGGAATGTTATTAAGACAAAAGCCTGAGTGCTAAGTGTGCTCATGGCTACTGGGGTGTTTTTGCTTCTTGAGCCTTTCGGAAGACAGATACACACATGCAAATATATGTCTATATATACATGCCTATGTGCATGAAACATGAACACATCTGCATGCACCCACAAACACAAGCATATAAATATTCCTGAATTCCCAGTGCTACCTCCGGTTCCTATCCATGACCTCACAGTTCTTTCTTGCTTTTCCCTTTTCCATATTTGTAAGTCCCTTCTTCCACGGTGAGAATTCTGGGTCCCAATAACATCAAAACATTTATTAATTTATTTAATCCTGTAACACATCTAAAATTTTCAGAATCACTTTGCCTATACCACTATAAAAAACAAACTAAAAAGAACTCAGAAATTATTTGTAGTTCTTCTCCCCCGCTCCACCCTGCCCAAGAATGAGGATATAGAGTCAAACACTGTGTTCAGCAGTTGTTTGTGTTAGCTCTATCCCCCTTTTGCAAGATTATGATATTTATTTGAAATAAAATTGGGTTACTTTATTTAGTTTGCTGTCAGTGTTAGGTTTTCTTTTTGTTTTCATTTTTGCCTACTTCCCATTCTTACTGATTTTTTTTGAATATGTGGAACATTAACATGCTTCCAAAAATTAAAACTATACAAAAATATATCCCCAGAAGTACTGTTTCCTCCCATTTTTCTTTCTTCCCATTTTCTTCTTGTTGATCACCAAATTCATTGTTTTCTGGTTTATCCTTTCTACGTTCTATTTGCAAAGGTAAGCAGACATACGTTTACTTTCTTGTTTTTCCTTCTTTCTTACATACAAAGTAGCGTTCTCTATGTTCTGTTTTCCACTTTGCTTTTTATCATTTAACAGTATTTACTGGAAATATCTCCATATCAGTTTACTGAGACTTTTCTTCTTCTTTTTTATAGTTGCGTAAGACTTTATTGTGTGTCTGTACCATAAATTATTCAGCCAATCTACAATGACTAAACATTTAGGTAACTTCCAGCATTTTGCAATTACAAATGCAATGGATCACCTTATACATATTCATTTTGCACTGTGGGAGATGCATCTTCAGGATAAACTCTTAGACGTGTGATTGCTGAGTCAGAGGATAAATGCATACAACATTTTGTTAGATATGAGAGTGGGGATTTTTTTTTGTCTGTCTTGTTCACTGCTATACTCCTGGTTTCTAGAACAGTACTTGGCACACAGTAGACACATAGTAAACATTTGTTGGAATGAATGAATGAATAGCACGCTTCAGTTTCTCATCTCCAAGAGAATGCACTCTCATGAAACAGGCTTGTAATTAACCAGACTCCTATGTGGCCACAACAAAACATTTTTCACCTTTTCGATTTCTTCTGCTGGTACACCTCGAAGCCGGGCATAAAGGTAAAGATGTTCTCGTCCTGTGAGCAGCTCATCAATTGCATCAAACTGAGGACAGTAGCCCATATTTTGATGGACTTCAGAAATATTGGTTAAAATACTGCAAGAAAAAAAGCAATTACTGAGTATCCTTCAAGGAGTGGAGGGATGACCATAGAGCTAGGGCTGGAGAAGCTTCTGCCAACGGGAAAAGGAAGCTGCTTCTTCTCTTCTCCTATTTGGCTTCAGAAATGCATGGGATATTTGGGAATCAAAACAGGGGCCCTTCGGTTAGAAACTGAATCCTGTCAGATTCTTCCATGTTTCCATGTCTAGGATTAATTGAATCCCTGTTACGCCAAAAGTCAGCTTTCATTTTGGATCAGATCACCTCACATGTGAGTTTAAAAACAGAGGGAAGATCAGGTTTAAGAAAATGATTCATGATTTATCAATAATTTTCAGACATTTGGGAAGTAACTAGAAAAGATGCATGTGTCCCGATGGAAGTAAACTTCTCTATCTGTATTTATTGGCAAAGATAGCAATGAAAGAGGAGCCAGTCAGATAACTACCCACAGCGAGAGGCCTGCAGGGAGCAGGGGTAGAGTGAGTTGGGTTCCACCAACTCCCTTTGGCTAATATATTCACCCCCACTAAAAAATATATTGCCAAGATGGAAAATAAACTATACATAGACATTTAGTCTAATCTCATCCTTTTCTTCTTATAGCTTAGGGTCTATGAATAAAGGATGGATGATATAGGATGGTACAGAGAGACCATTACAGTTCCCCACAATGACAAAAGCCACCAAAGGCATGGCTGGGCCAATTAAAACTACTCAGGGAAGCAAGTAGGGTACGTTTCCAAATTAGTGGGAGCTACCCTACCATATAATCCCAATTCTGTGTCTTAAGCCTATAGTTTCTTTCTAGCGTCCAGCTCAGTTTTACCTTCTGGATGTCAGACTGTGCCTCACTTGGACACAGTTGTAACTTGATGTCTCATAAATGTGCTCATGGAAAATTCTATGATATCTTTCCCCTGCCATGGTATGATATCTCTACCCTGCCATGACTCCTTTTGTCACCATGAGGAAGTCACCTGCGTGGTCACTTGCAGGTGAAGCTGGATCTGTTGAGATGGACTCAGCCATGACCTGGCTTCACCCCTGCCTGTCCCTTTTCTGTAAACCCAGTAGGGCTGGCTATGGAGGCCAAAGAATCAAATTCATCCTGTCTGAGCCAGTGAAGCGTGCTCAGGACTCGTCCTGCCCACTGGGCATTGGGCCATGCTGAGGATGGCTTTCAGGAGAGAGGAAGAGGCCCCAGTCAAGCAGATGCTGGACAGATGTCAGCAGCACCTAACTCCACTTATAAACCAGGGCAGAGGCTTCCTCTGGGCACCTCTATTGTGTGTGCTGAAGTTTTACTGTTCAAGCTTTTCCTGCAGCCAGGAAAGAGGCAGATGAGTGAGAGCTCATCCTCTCTGTCCTGCCCATAGGGGACCAGTCTGTTTAAACACATTTTATTACAGAGAGCAGCAGTCACCCTCCAGAATCCAAGGGCACACGCCAGTTTTCCCTCTATGCTCCTTGGTCTGGCAAAGCCAAATATCAGCCTACAAATAGCCAATGCAGGTTAGGCTACCCCAAAGGCCCATGCATGAGCCCCTATCTAGAAACTCAACCCAGAGGAAGGATTCTTCATTCATCACAGGGGTTCTTAACCTGGGATTCAAGAGCTCCTGCAGGATCATAAATGTGACCTGGGGCTCAGTAAACTCCCTGAAACGTTTTGTAAAAATGTGTGGAGGGAGGTAATGGGAAGCAATGGTGCATTTTTATAGGAATAGGCTACAAATATTCATCAGATGCTTAAAAGGTTCCGTGACCTCTAAGAGATTAAGAACCACACACTTAGTGCTTCCCAGGTCTTTCCAAGAATCCATCCCAACAGAGGAATCTCTTAACTATCACAATTCAGTTCACTTTTCCATTGGGTCTATGTGTTGGGCTTTTTGGGCCATGCTCTCTGGGAGGCCTCCTTCTCTGTACAGA
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TATCTCCAATCTGGATTCTACATAAGTGAAATTGTGTCCTTCACAGGGTATCACATCTCGGGGCATGAGATGTCCATCTGCCCCTTATGGTTAATTTTGATCACCCAGTTAAGGTGCTGTCTAATTTCTCCATTGTAAAATTATTATGTTTCTCCCATGTAACCAATAAGCAATCTGTACAGAGTTACTTTTATTTCTTTAAAATTATATTATTATTATTTTAAGAGACAGAGTCTTGCTCTGTTTCCCAGGCTGGAGAGCAGTGGCTTGATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCATTCCTCCCACCTCAGCCACCTGAGTAGCTGGGACTATAGGCGTGCACCACCAGGCCCAGCTAATTTGTTTGCTAATTTTTTGTAGAGACAGGGTCTCCCTATGTTGCACAGGCTAATCTGGAACTCCTGGGCTCAAGCGATCTTCCTACCTTGGCCTCCCAAAGTGCTGCGATTACAGGTGTGAGCCACCATGCCCAGCCCCTTATTTTTTTTTTAAAAGCACTTCCTTACTTTCTGGCATAAGATATTCCAGGTTCATTTTATACCTATGCCATTCCAGCCCTGGAACTTATCATTTATTGGAGGAATCAGGGTTACTTTTAGTGGGGAATGTTATTAAGACAAAAGCCTGAGTGCTAAGTGTGCTCATGGCTACTGGGGTGTTTTTGCTTCTTGAGCCTTTCGGAAGACAGATACACACATGCAAATATATGTCTATATATACATGCCTATGTGCATGAAACATGAACACATCTGCATGCACCCACAAACACAAGCATATAAATATTCCTGAATTCCCAGTGCTACCTCCGGTTCCTATCCATGACCTCACAGTTCTTTCTTGCTTTTCCCTTTTCCATATTTGTAAGTCCCTTCTTCCACGGTGAGAATTCTGGGTCCCAATAACATCAAAACATTTATTAATTTATTTAATCCTGTAACACATCTAAAATTTTCAGAATCACTTTGCCTATACCACTATAAAAAACAAACTAAAAAGAACTCAGAAATTATTTGTAGTTCTTCTCCCCCGCTCCACCCTGCCCAAGAATGAGGATATAGAGTCAAACACTGTGTTCAGCAGTTGTTTGTGTTAGCTCTATCCCCCTTTTGCAAGATTATGATATTTATTTGAAATAAAATTGGGTTACTTTATTTAGTTTGCTGTCAGTGTTAGGTTTTCTTTTTGTTTTCATTTTTGCCTACTTCCCATTCTTACTGATTTTTTTTGAATATGTGGAACATTAACATGCTTCCAAAAATTAAAACTATACAAAAATATATCCCCAGAAGTACTGTTTCCTCCCATTTTTCTTTCTTCCCATTTTCTTCTTGTTGATCACCAAATTCATTGTTTTCTGGTTTATCCTTTCTACGTTCTATTTGCAAAGGTAAGCAGACATACGTTTACTTTCTTGTTTTTCCTTCTTTCTTACATACAAAGTAGCGTTCTCTATGTTCTGTTTTCCACTTTGCTTTTTATCATTTAACAGTATTTACTGGAAATATCTCCATATCAGTTTACTGAGACTTTTCTTCTTCTTTTTTATAGTTGCGTAAGACTTTATTGTGTGTCTGTACCATAAATTATTCAGCCAATCTACAATGACTAAACATTTAGGTAACTTCCAGCATTTTGCAATTACAAATGCAATGGATCACCTTATACATATTCATTTTGCACTGTGGGAGATGCATCTTCAGGATAAACTCTTAGACGTGTGATTGCTGAGTCAGAGGATAAATGCATACAACATTTTGTTAGATATGAGAGTGGGGATTTTTTTTTGTCTGTCTTGTTCACTGCTATACTCCTGGTTTCTAGAACAGTACTTGGCACACAGTAGACACATAGTAAACATTTGTTGGAATGAATGAATGAATAGCACGCTTCAGTTTCTCATCTCCAAGAGAATGCACTCTCATGAAACAGGCTTGTAATTAACCAGACTCCTATGTGGCCACAACAAAACATTTTTCACCTTTTCGATTTCTTCTGCTGGTACACCTCGAAGCCAGGCATAAAGGTAAAGATGTTCTCGTCCTGTGAGCAGCTCATCAATTGCATCAAACTGAGGACAGTAGCCCATATTTTGATGGACTTCAGAAATATTGGTTAAAATACTGCAAGAAAAAAAGCAATTACTGAGTATCCTTCAAGGAGTGGAGGGATGACCATAGAGCTAGGGCTGGAGAAGCTTCTGCCAACGGGAAAAGGAAGCTGCTTCTTCTCTTCTCCTATTTGGCTTCAGAAATGCATGGGATATTTGGGAATCAAAACAGGGGCCCTTCGGTTAGAAACTGAATCCTGTCAGATTCTTCCATGTTTCCATGTCTAGGATTAATTGAATCCCTGTTACGCCAAAAGTCAGCTTTCATTTTGGATCAGATCACCTCACATGTGAGTTTAAAAACAGAGGGAAGATCAGGTTTAAGAAAATGATTCATGATTTATCAATAATTTTCAGACATTTGGGAAGTAACTAGAAAAGATGCATGTGTCCCGATGGAAGTAAACTTCTCTATCTGTATTTATTGGCAAAGATAGCAATGAAAGAGGAGCCAGTCAGATAACTACCCACAGCGAGAGGCCTGCAGGGAGCAGGGGTAGAGTGAGTTGGGTTCCACCAACTCCCTTTGGCTAATATATTCACCCCCACTAAAAAATATATTGCCAAGATGGAAAATAAACTATACATAGACATTTAGTCTAATCTCATCCTTTTCTTCTTATAGCTTAGGGTCTATGAATAAAGGATGGATGATATAGGATGGTACAGAGAGACCATTACAGTTCCCCACAATGACAAAAGCCACCAAAGGCATGGCTGGGCCAATTAAAACTACTCAGGGAAGCAAGTAGGGTACGTTTCCAAATTAGTGGGAGCTACCCTACCATATAATCCCAATTCTGTGTCTTAAGCCTATAGTTTCTTTCTAGCGTCCAGCTCAGTTTTACCTTCTGGATGTCAGACTGTGCCTCACTTGGACACAGTTGTAACTTGATGTCTCATAAATGTGCTCATGGAAAATTCTATGATATCTTTCCCCTGCCATGGTATGATATCTCTACCCTGCCATGACTCCTTTTGTCACCATGAGGAAGTCACCTGCGTGGTCACTTGCAGGTGAAGCTGGATCTGTTGAGATGGACTCAGCCATGACCTGGCTTCACCCCTGCCTGTCCCTTTTCTGTAAACCCAGTAGGGCTGGCTATGGAGGCCAAAGAATCAAATTCATCCTGTCTGAGCCAGTGAAGCGTGCTCAGGACTCGTCCTGCCCACTGGGCATTGGGCCATGCTGAGGATGGCTTTCAGGAGAGAGGAAGAGGCCCCAGTCAAGCAGATGCTGGACAGATGTCAGCAGCACCTAACTCCACTTATAAACCAGGGCAGAGGCTTCCTCTGGGCACCTCTATTGTGTGTGCTGAAGTTTTACTGTTCAAGCTTTTCCTGCAGCCAGGAAAGAGGCAGATGAGTGAGAGCTCATCCTCTCTGTCCTGCCCATAGGGGACCAGTCTGTTTAAACACATTTTATTACAGAGAGCAGCAGTCACCCTCCAGAATCCAAGGGCACACGCCAGTTTTCCCTCTATGCTCCTTGGTCTGGCAAAGCCAAATATCAGCCTACAAATAGCCAATGCAGGTTAGGCTACCCCAAAGGCCCATGCATGAGCCCCTATCTAGAAACTCAACCCAGAGGAAGGATTCTTCATTCATCACAGGGGTTCTTAACCTGGGATTCAAGAGCTCCTGCAGGATCATAAATGTGACCTGGGGCTCAGTAAACTCCCTGAAACGTTTTGTAAAAATGTGTGGAGGGAGGTAATGGGAAGCAATGGTGCATTTTTATAGGAATAGGCTACAAATATTCATCAGATGCTTAAAAGGTTCCGTGACCTCTAAGAGATTAAGAACCACACACTTAGTGCTTCCCAGGTCTTTCCAAGAATCCATCCCAACAGAGGAATCTCTTAACTATCACAATTCAGTTCACTTTTCCATTGGGTCTATGTGTTGGGCTTTTTGGGCCATGCTCTCTGGGAGGCCTCCTTCTCTGTACAGA
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Task1_train_1128
|
A genomic change on Chromosome 1 affects ABCA4 (ATP binding cassette subfamily A member 4). Classify this variant as benign or pathogenic, and name the disease if relevant.
|
Pathogenic; Retinal dystrophy
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TATCTCCAATCTGGATTCTACATAAGTGAAATTGTGTCCTTCACAGGGTATCACATCTCGGGGCATGAGATGTCCATCTGCCCCTTATGGTTAATTTTGATCACCCAGTTAAGGTGCTGTCTAATTTCTCCATTGTAAAATTATTATGTTTCTCCCATGTAACCAATAAGCAATCTGTACAGAGTTACTTTTATTTCTTTAAAATTATATTATTATTATTTTAAGAGACAGAGTCTTGCTCTGTTTCCCAGGCTGGAGAGCAGTGGCTTGATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCATTCCTCCCACCTCAGCCACCTGAGTAGCTGGGACTATAGGCGTGCACCACCAGGCCCAGCTAATTTGTTTGCTAATTTTTTGTAGAGACAGGGTCTCCCTATGTTGCACAGGCTAATCTGGAACTCCTGGGCTCAAGCGATCTTCCTACCTTGGCCTCCCAAAGTGCTGCGATTACAGGTGTGAGCCACCATGCCCAGCCCCTTATTTTTTTTTTAAAAGCACTTCCTTACTTTCTGGCATAAGATATTCCAGGTTCATTTTATACCTATGCCATTCCAGCCCTGGAACTTATCATTTATTGGAGGAATCAGGGTTACTTTTAGTGGGGAATGTTATTAAGACAAAAGCCTGAGTGCTAAGTGTGCTCATGGCTACTGGGGTGTTTTTGCTTCTTGAGCCTTTCGGAAGACAGATACACACATGCAAATATATGTCTATATATACATGCCTATGTGCATGAAACATGAACACATCTGCATGCACCCACAAACACAAGCATATAAATATTCCTGAATTCCCAGTGCTACCTCCGGTTCCTATCCATGACCTCACAGTTCTTTCTTGCTTTTCCCTTTTCCATATTTGTAAGTCCCTTCTTCCACGGTGAGAATTCTGGGTCCCAATAACATCAAAACATTTATTAATTTATTTAATCCTGTAACACATCTAAAATTTTCAGAATCACTTTGCCTATACCACTATAAAAAACAAACTAAAAAGAACTCAGAAATTATTTGTAGTTCTTCTCCCCCGCTCCACCCTGCCCAAGAATGAGGATATAGAGTCAAACACTGTGTTCAGCAGTTGTTTGTGTTAGCTCTATCCCCCTTTTGCAAGATTATGATATTTATTTGAAATAAAATTGGGTTACTTTATTTAGTTTGCTGTCAGTGTTAGGTTTTCTTTTTGTTTTCATTTTTGCCTACTTCCCATTCTTACTGATTTTTTTTGAATATGTGGAACATTAACATGCTTCCAAAAATTAAAACTATACAAAAATATATCCCCAGAAGTACTGTTTCCTCCCATTTTTCTTTCTTCCCATTTTCTTCTTGTTGATCACCAAATTCATTGTTTTCTGGTTTATCCTTTCTACGTTCTATTTGCAAAGGTAAGCAGACATACGTTTACTTTCTTGTTTTTCCTTCTTTCTTACATACAAAGTAGCGTTCTCTATGTTCTGTTTTCCACTTTGCTTTTTATCATTTAACAGTATTTACTGGAAATATCTCCATATCAGTTTACTGAGACTTTTCTTCTTCTTTTTTATAGTTGCGTAAGACTTTATTGTGTGTCTGTACCATAAATTATTCAGCCAATCTACAATGACTAAACATTTAGGTAACTTCCAGCATTTTGCAATTACAAATGCAATGGATCACCTTATACATATTCATTTTGCACTGTGGGAGATGCATCTTCAGGATAAACTCTTAGACGTGTGATTGCTGAGTCAGAGGATAAATGCATACAACATTTTGTTAGATATGAGAGTGGGGATTTTTTTTTGTCTGTCTTGTTCACTGCTATACTCCTGGTTTCTAGAACAGTACTTGGCACACAGTAGACACATAGTAAACATTTGTTGGAATGAATGAATGAATAGCACGCTTCAGTTTCTCATCTCCAAGAGAATGCACTCTCATGAAACAGGCTTGTAATTAACCAGACTCCTATGTGGCCACAACAAAACATTTTTCACCTTTTCGATTTCTTCTGCTGGTACACCTCGAAGCCGGGCATAAAGGTAAAGATGTTCTCGTCCTGTGAGCAGCTCATCAATTGCATCAAACTGAGGACAGTAGCCCATATTTTGATGGACTTCAGAAATATTGGTTAAAATACTGCAAGAAAAAAAGCAATTACTGAGTATCCTTCAAGGAGTGGAGGGATGACCATAGAGCTAGGGCTGGAGAAGCTTCTGCCAACGGGAAAAGGAAGCTGCTTCTTCTCTTCTCCTATTTGGCTTCAGAAATGCATGGGATATTTGGGAATCAAAACAGGGGCCCTTCGGTTAGAAACTGAATCCTGTCAGATTCTTCCATGTTTCCATGTCTAGGATTAATTGAATCCCTGTTACGCCAAAAGTCAGCTTTCATTTTGGATCAGATCACCTCACATGTGAGTTTAAAAACAGAGGGAAGATCAGGTTTAAGAAAATGATTCATGATTTATCAATAATTTTCAGACATTTGGGAAGTAACTAGAAAAGATGCATGTGTCCCGATGGAAGTAAACTTCTCTATCTGTATTTATTGGCAAAGATAGCAATGAAAGAGGAGCCAGTCAGATAACTACCCACAGCGAGAGGCCTGCAGGGAGCAGGGGTAGAGTGAGTTGGGTTCCACCAACTCCCTTTGGCTAATATATTCACCCCCACTAAAAAATATATTGCCAAGATGGAAAATAAACTATACATAGACATTTAGTCTAATCTCATCCTTTTCTTCTTATAGCTTAGGGTCTATGAATAAAGGATGGATGATATAGGATGGTACAGAGAGACCATTACAGTTCCCCACAATGACAAAAGCCACCAAAGGCATGGCTGGGCCAATTAAAACTACTCAGGGAAGCAAGTAGGGTACGTTTCCAAATTAGTGGGAGCTACCCTACCATATAATCCCAATTCTGTGTCTTAAGCCTATAGTTTCTTTCTAGCGTCCAGCTCAGTTTTACCTTCTGGATGTCAGACTGTGCCTCACTTGGACACAGTTGTAACTTGATGTCTCATAAATGTGCTCATGGAAAATTCTATGATATCTTTCCCCTGCCATGGTATGATATCTCTACCCTGCCATGACTCCTTTTGTCACCATGAGGAAGTCACCTGCGTGGTCACTTGCAGGTGAAGCTGGATCTGTTGAGATGGACTCAGCCATGACCTGGCTTCACCCCTGCCTGTCCCTTTTCTGTAAACCCAGTAGGGCTGGCTATGGAGGCCAAAGAATCAAATTCATCCTGTCTGAGCCAGTGAAGCGTGCTCAGGACTCGTCCTGCCCACTGGGCATTGGGCCATGCTGAGGATGGCTTTCAGGAGAGAGGAAGAGGCCCCAGTCAAGCAGATGCTGGACAGATGTCAGCAGCACCTAACTCCACTTATAAACCAGGGCAGAGGCTTCCTCTGGGCACCTCTATTGTGTGTGCTGAAGTTTTACTGTTCAAGCTTTTCCTGCAGCCAGGAAAGAGGCAGATGAGTGAGAGCTCATCCTCTCTGTCCTGCCCATAGGGGACCAGTCTGTTTAAACACATTTTATTACAGAGAGCAGCAGTCACCCTCCAGAATCCAAGGGCACACGCCAGTTTTCCCTCTATGCTCCTTGGTCTGGCAAAGCCAAATATCAGCCTACAAATAGCCAATGCAGGTTAGGCTACCCCAAAGGCCCATGCATGAGCCCCTATCTAGAAACTCAACCCAGAGGAAGGATTCTTCATTCATCACAGGGGTTCTTAACCTGGGATTCAAGAGCTCCTGCAGGATCATAAATGTGACCTGGGGCTCAGTAAACTCCCTGAAACGTTTTGTAAAAATGTGTGGAGGGAGGTAATGGGAAGCAATGGTGCATTTTTATAGGAATAGGCTACAAATATTCATCAGATGCTTAAAAGGTTCCGTGACCTCTAAGAGATTAAGAACCACACACTTAGTGCTTCCCAGGTCTTTCCAAGAATCCATCCCAACAGAGGAATCTCTTAACTATCACAATTCAGTTCACTTTTCCATTGGGTCTATGTGTTGGGCTTTTTGGGCCATGCTCTCTGGGAGGCCTCCTTCTCTGTACAGA
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TATCTCCAATCTGGATTCTACATAAGTGAAATTGTGTCCTTCACAGGGTATCACATCTCGGGGCATGAGATGTCCATCTGCCCCTTATGGTTAATTTTGATCACCCAGTTAAGGTGCTGTCTAATTTCTCCATTGTAAAATTATTATGTTTCTCCCATGTAACCAATAAGCAATCTGTACAGAGTTACTTTTATTTCTTTAAAATTATATTATTATTATTTTAAGAGACAGAGTCTTGCTCTGTTTCCCAGGCTGGAGAGCAGTGGCTTGATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCATTCCTCCCACCTCAGCCACCTGAGTAGCTGGGACTATAGGCGTGCACCACCAGGCCCAGCTAATTTGTTTGCTAATTTTTTGTAGAGACAGGGTCTCCCTATGTTGCACAGGCTAATCTGGAACTCCTGGGCTCAAGCGATCTTCCTACCTTGGCCTCCCAAAGTGCTGCGATTACAGGTGTGAGCCACCATGCCCAGCCCCTTATTTTTTTTTTAAAAGCACTTCCTTACTTTCTGGCATAAGATATTCCAGGTTCATTTTATACCTATGCCATTCCAGCCCTGGAACTTATCATTTATTGGAGGAATCAGGGTTACTTTTAGTGGGGAATGTTATTAAGACAAAAGCCTGAGTGCTAAGTGTGCTCATGGCTACTGGGGTGTTTTTGCTTCTTGAGCCTTTCGGAAGACAGATACACACATGCAAATATATGTCTATATATACATGCCTATGTGCATGAAACATGAACACATCTGCATGCACCCACAAACACAAGCATATAAATATTCCTGAATTCCCAGTGCTACCTCCGGTTCCTATCCATGACCTCACAGTTCTTTCTTGCTTTTCCCTTTTCCATATTTGTAAGTCCCTTCTTCCACGGTGAGAATTCTGGGTCCCAATAACATCAAAACATTTATTAATTTATTTAATCCTGTAACACATCTAAAATTTTCAGAATCACTTTGCCTATACCACTATAAAAAACAAACTAAAAAGAACTCAGAAATTATTTGTAGTTCTTCTCCCCCGCTCCACCCTGCCCAAGAATGAGGATATAGAGTCAAACACTGTGTTCAGCAGTTGTTTGTGTTAGCTCTATCCCCCTTTTGCAAGATTATGATATTTATTTGAAATAAAATTGGGTTACTTTATTTAGTTTGCTGTCAGTGTTAGGTTTTCTTTTTGTTTTCATTTTTGCCTACTTCCCATTCTTACTGATTTTTTTTGAATATGTGGAACATTAACATGCTTCCAAAAATTAAAACTATACAAAAATATATCCCCAGAAGTACTGTTTCCTCCCATTTTTCTTTCTTCCCATTTTCTTCTTGTTGATCACCAAATTCATTGTTTTCTGGTTTATCCTTTCTACGTTCTATTTGCAAAGGTAAGCAGACATACGTTTACTTTCTTGTTTTTCCTTCTTTCTTACATACAAAGTAGCGTTCTCTATGTTCTGTTTTCCACTTTGCTTTTTATCATTTAACAGTATTTACTGGAAATATCTCCATATCAGTTTACTGAGACTTTTCTTCTTCTTTTTTATAGTTGCGTAAGACTTTATTGTGTGTCTGTACCATAAATTATTCAGCCAATCTACAATGACTAAACATTTAGGTAACTTCCAGCATTTTGCAATTACAAATGCAATGGATCACCTTATACATATTCATTTTGCACTGTGGGAGATGCATCTTCAGGATAAACTCTTAGACGTGTGATTGCTGAGTCAGAGGATAAATGCATACAACATTTTGTTAGATATGAGAGTGGGGATTTTTTTTTGTCTGTCTTGTTCACTGCTATACTCCTGGTTTCTAGAACAGTACTTGGCACACAGTAGACACATAGTAAACATTTGTTGGAATGAATGAATGAATAGCACGCTTCAGTTTCTCATCTCCAAGAGAATGCACTCTCATGAAACAGGCTTGTAATTAACCAGACTCCTATGTGGCCACAACAAAACATTTTTCACCTTTTCGATTTCTTCTGCTGGTACACCTCGAAGCCAGGCATAAAGGTAAAGATGTTCTCGTCCTGTGAGCAGCTCATCAATTGCATCAAACTGAGGACAGTAGCCCATATTTTGATGGACTTCAGAAATATTGGTTAAAATACTGCAAGAAAAAAAGCAATTACTGAGTATCCTTCAAGGAGTGGAGGGATGACCATAGAGCTAGGGCTGGAGAAGCTTCTGCCAACGGGAAAAGGAAGCTGCTTCTTCTCTTCTCCTATTTGGCTTCAGAAATGCATGGGATATTTGGGAATCAAAACAGGGGCCCTTCGGTTAGAAACTGAATCCTGTCAGATTCTTCCATGTTTCCATGTCTAGGATTAATTGAATCCCTGTTACGCCAAAAGTCAGCTTTCATTTTGGATCAGATCACCTCACATGTGAGTTTAAAAACAGAGGGAAGATCAGGTTTAAGAAAATGATTCATGATTTATCAATAATTTTCAGACATTTGGGAAGTAACTAGAAAAGATGCATGTGTCCCGATGGAAGTAAACTTCTCTATCTGTATTTATTGGCAAAGATAGCAATGAAAGAGGAGCCAGTCAGATAACTACCCACAGCGAGAGGCCTGCAGGGAGCAGGGGTAGAGTGAGTTGGGTTCCACCAACTCCCTTTGGCTAATATATTCACCCCCACTAAAAAATATATTGCCAAGATGGAAAATAAACTATACATAGACATTTAGTCTAATCTCATCCTTTTCTTCTTATAGCTTAGGGTCTATGAATAAAGGATGGATGATATAGGATGGTACAGAGAGACCATTACAGTTCCCCACAATGACAAAAGCCACCAAAGGCATGGCTGGGCCAATTAAAACTACTCAGGGAAGCAAGTAGGGTACGTTTCCAAATTAGTGGGAGCTACCCTACCATATAATCCCAATTCTGTGTCTTAAGCCTATAGTTTCTTTCTAGCGTCCAGCTCAGTTTTACCTTCTGGATGTCAGACTGTGCCTCACTTGGACACAGTTGTAACTTGATGTCTCATAAATGTGCTCATGGAAAATTCTATGATATCTTTCCCCTGCCATGGTATGATATCTCTACCCTGCCATGACTCCTTTTGTCACCATGAGGAAGTCACCTGCGTGGTCACTTGCAGGTGAAGCTGGATCTGTTGAGATGGACTCAGCCATGACCTGGCTTCACCCCTGCCTGTCCCTTTTCTGTAAACCCAGTAGGGCTGGCTATGGAGGCCAAAGAATCAAATTCATCCTGTCTGAGCCAGTGAAGCGTGCTCAGGACTCGTCCTGCCCACTGGGCATTGGGCCATGCTGAGGATGGCTTTCAGGAGAGAGGAAGAGGCCCCAGTCAAGCAGATGCTGGACAGATGTCAGCAGCACCTAACTCCACTTATAAACCAGGGCAGAGGCTTCCTCTGGGCACCTCTATTGTGTGTGCTGAAGTTTTACTGTTCAAGCTTTTCCTGCAGCCAGGAAAGAGGCAGATGAGTGAGAGCTCATCCTCTCTGTCCTGCCCATAGGGGACCAGTCTGTTTAAACACATTTTATTACAGAGAGCAGCAGTCACCCTCCAGAATCCAAGGGCACACGCCAGTTTTCCCTCTATGCTCCTTGGTCTGGCAAAGCCAAATATCAGCCTACAAATAGCCAATGCAGGTTAGGCTACCCCAAAGGCCCATGCATGAGCCCCTATCTAGAAACTCAACCCAGAGGAAGGATTCTTCATTCATCACAGGGGTTCTTAACCTGGGATTCAAGAGCTCCTGCAGGATCATAAATGTGACCTGGGGCTCAGTAAACTCCCTGAAACGTTTTGTAAAAATGTGTGGAGGGAGGTAATGGGAAGCAATGGTGCATTTTTATAGGAATAGGCTACAAATATTCATCAGATGCTTAAAAGGTTCCGTGACCTCTAAGAGATTAAGAACCACACACTTAGTGCTTCCCAGGTCTTTCCAAGAATCCATCCCAACAGAGGAATCTCTTAACTATCACAATTCAGTTCACTTTTCCATTGGGTCTATGTGTTGGGCTTTTTGGGCCATGCTCTCTGGGAGGCCTCCTTCTCTGTACAGA
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Task1_train_1129
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The following genetic variant occurs in ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Retinal dystrophy
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CTACATAAGTGAAATTGTGTCCTTCACAGGGTATCACATCTCGGGGCATGAGATGTCCATCTGCCCCTTATGGTTAATTTTGATCACCCAGTTAAGGTGCTGTCTAATTTCTCCATTGTAAAATTATTATGTTTCTCCCATGTAACCAATAAGCAATCTGTACAGAGTTACTTTTATTTCTTTAAAATTATATTATTATTATTTTAAGAGACAGAGTCTTGCTCTGTTTCCCAGGCTGGAGAGCAGTGGCTTGATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCATTCCTCCCACCTCAGCCACCTGAGTAGCTGGGACTATAGGCGTGCACCACCAGGCCCAGCTAATTTGTTTGCTAATTTTTTGTAGAGACAGGGTCTCCCTATGTTGCACAGGCTAATCTGGAACTCCTGGGCTCAAGCGATCTTCCTACCTTGGCCTCCCAAAGTGCTGCGATTACAGGTGTGAGCCACCATGCCCAGCCCCTTATTTTTTTTTTAAAAGCACTTCCTTACTTTCTGGCATAAGATATTCCAGGTTCATTTTATACCTATGCCATTCCAGCCCTGGAACTTATCATTTATTGGAGGAATCAGGGTTACTTTTAGTGGGGAATGTTATTAAGACAAAAGCCTGAGTGCTAAGTGTGCTCATGGCTACTGGGGTGTTTTTGCTTCTTGAGCCTTTCGGAAGACAGATACACACATGCAAATATATGTCTATATATACATGCCTATGTGCATGAAACATGAACACATCTGCATGCACCCACAAACACAAGCATATAAATATTCCTGAATTCCCAGTGCTACCTCCGGTTCCTATCCATGACCTCACAGTTCTTTCTTGCTTTTCCCTTTTCCATATTTGTAAGTCCCTTCTTCCACGGTGAGAATTCTGGGTCCCAATAACATCAAAACATTTATTAATTTATTTAATCCTGTAACACATCTAAAATTTTCAGAATCACTTTGCCTATACCACTATAAAAAACAAACTAAAAAGAACTCAGAAATTATTTGTAGTTCTTCTCCCCCGCTCCACCCTGCCCAAGAATGAGGATATAGAGTCAAACACTGTGTTCAGCAGTTGTTTGTGTTAGCTCTATCCCCCTTTTGCAAGATTATGATATTTATTTGAAATAAAATTGGGTTACTTTATTTAGTTTGCTGTCAGTGTTAGGTTTTCTTTTTGTTTTCATTTTTGCCTACTTCCCATTCTTACTGATTTTTTTTGAATATGTGGAACATTAACATGCTTCCAAAAATTAAAACTATACAAAAATATATCCCCAGAAGTACTGTTTCCTCCCATTTTTCTTTCTTCCCATTTTCTTCTTGTTGATCACCAAATTCATTGTTTTCTGGTTTATCCTTTCTACGTTCTATTTGCAAAGGTAAGCAGACATACGTTTACTTTCTTGTTTTTCCTTCTTTCTTACATACAAAGTAGCGTTCTCTATGTTCTGTTTTCCACTTTGCTTTTTATCATTTAACAGTATTTACTGGAAATATCTCCATATCAGTTTACTGAGACTTTTCTTCTTCTTTTTTATAGTTGCGTAAGACTTTATTGTGTGTCTGTACCATAAATTATTCAGCCAATCTACAATGACTAAACATTTAGGTAACTTCCAGCATTTTGCAATTACAAATGCAATGGATCACCTTATACATATTCATTTTGCACTGTGGGAGATGCATCTTCAGGATAAACTCTTAGACGTGTGATTGCTGAGTCAGAGGATAAATGCATACAACATTTTGTTAGATATGAGAGTGGGGATTTTTTTTTGTCTGTCTTGTTCACTGCTATACTCCTGGTTTCTAGAACAGTACTTGGCACACAGTAGACACATAGTAAACATTTGTTGGAATGAATGAATGAATAGCACGCTTCAGTTTCTCATCTCCAAGAGAATGCACTCTCATGAAACAGGCTTGTAATTAACCAGACTCCTATGTGGCCACAACAAAACATTTTTCACCTTTTCGATTTCTTCTGCTGGTACACCTCGAAGCCGGGCATAAAGGTAAAGATGTTCTCGTCCTGTGAGCAGCTCATCAATTGCATCAAACTGAGGACAGTAGCCCATATTTTGATGGACTTCAGAAATATTGGTTAAAATACTGCAAGAAAAAAAGCAATTACTGAGTATCCTTCAAGGAGTGGAGGGATGACCATAGAGCTAGGGCTGGAGAAGCTTCTGCCAACGGGAAAAGGAAGCTGCTTCTTCTCTTCTCCTATTTGGCTTCAGAAATGCATGGGATATTTGGGAATCAAAACAGGGGCCCTTCGGTTAGAAACTGAATCCTGTCAGATTCTTCCATGTTTCCATGTCTAGGATTAATTGAATCCCTGTTACGCCAAAAGTCAGCTTTCATTTTGGATCAGATCACCTCACATGTGAGTTTAAAAACAGAGGGAAGATCAGGTTTAAGAAAATGATTCATGATTTATCAATAATTTTCAGACATTTGGGAAGTAACTAGAAAAGATGCATGTGTCCCGATGGAAGTAAACTTCTCTATCTGTATTTATTGGCAAAGATAGCAATGAAAGAGGAGCCAGTCAGATAACTACCCACAGCGAGAGGCCTGCAGGGAGCAGGGGTAGAGTGAGTTGGGTTCCACCAACTCCCTTTGGCTAATATATTCACCCCCACTAAAAAATATATTGCCAAGATGGAAAATAAACTATACATAGACATTTAGTCTAATCTCATCCTTTTCTTCTTATAGCTTAGGGTCTATGAATAAAGGATGGATGATATAGGATGGTACAGAGAGACCATTACAGTTCCCCACAATGACAAAAGCCACCAAAGGCATGGCTGGGCCAATTAAAACTACTCAGGGAAGCAAGTAGGGTACGTTTCCAAATTAGTGGGAGCTACCCTACCATATAATCCCAATTCTGTGTCTTAAGCCTATAGTTTCTTTCTAGCGTCCAGCTCAGTTTTACCTTCTGGATGTCAGACTGTGCCTCACTTGGACACAGTTGTAACTTGATGTCTCATAAATGTGCTCATGGAAAATTCTATGATATCTTTCCCCTGCCATGGTATGATATCTCTACCCTGCCATGACTCCTTTTGTCACCATGAGGAAGTCACCTGCGTGGTCACTTGCAGGTGAAGCTGGATCTGTTGAGATGGACTCAGCCATGACCTGGCTTCACCCCTGCCTGTCCCTTTTCTGTAAACCCAGTAGGGCTGGCTATGGAGGCCAAAGAATCAAATTCATCCTGTCTGAGCCAGTGAAGCGTGCTCAGGACTCGTCCTGCCCACTGGGCATTGGGCCATGCTGAGGATGGCTTTCAGGAGAGAGGAAGAGGCCCCAGTCAAGCAGATGCTGGACAGATGTCAGCAGCACCTAACTCCACTTATAAACCAGGGCAGAGGCTTCCTCTGGGCACCTCTATTGTGTGTGCTGAAGTTTTACTGTTCAAGCTTTTCCTGCAGCCAGGAAAGAGGCAGATGAGTGAGAGCTCATCCTCTCTGTCCTGCCCATAGGGGACCAGTCTGTTTAAACACATTTTATTACAGAGAGCAGCAGTCACCCTCCAGAATCCAAGGGCACACGCCAGTTTTCCCTCTATGCTCCTTGGTCTGGCAAAGCCAAATATCAGCCTACAAATAGCCAATGCAGGTTAGGCTACCCCAAAGGCCCATGCATGAGCCCCTATCTAGAAACTCAACCCAGAGGAAGGATTCTTCATTCATCACAGGGGTTCTTAACCTGGGATTCAAGAGCTCCTGCAGGATCATAAATGTGACCTGGGGCTCAGTAAACTCCCTGAAACGTTTTGTAAAAATGTGTGGAGGGAGGTAATGGGAAGCAATGGTGCATTTTTATAGGAATAGGCTACAAATATTCATCAGATGCTTAAAAGGTTCCGTGACCTCTAAGAGATTAAGAACCACACACTTAGTGCTTCCCAGGTCTTTCCAAGAATCCATCCCAACAGAGGAATCTCTTAACTATCACAATTCAGTTCACTTTTCCATTGGGTCTATGTGTTGGGCTTTTTGGGCCATGCTCTCTGGGAGGCCTCCTTCTCTGTACAGATCTTTCAGGGCCTCAGA
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CTACATAAGTGAAATTGTGTCCTTCACAGGGTATCACATCTCGGGGCATGAGATGTCCATCTGCCCCTTATGGTTAATTTTGATCACCCAGTTAAGGTGCTGTCTAATTTCTCCATTGTAAAATTATTATGTTTCTCCCATGTAACCAATAAGCAATCTGTACAGAGTTACTTTTATTTCTTTAAAATTATATTATTATTATTTTAAGAGACAGAGTCTTGCTCTGTTTCCCAGGCTGGAGAGCAGTGGCTTGATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCATTCCTCCCACCTCAGCCACCTGAGTAGCTGGGACTATAGGCGTGCACCACCAGGCCCAGCTAATTTGTTTGCTAATTTTTTGTAGAGACAGGGTCTCCCTATGTTGCACAGGCTAATCTGGAACTCCTGGGCTCAAGCGATCTTCCTACCTTGGCCTCCCAAAGTGCTGCGATTACAGGTGTGAGCCACCATGCCCAGCCCCTTATTTTTTTTTTAAAAGCACTTCCTTACTTTCTGGCATAAGATATTCCAGGTTCATTTTATACCTATGCCATTCCAGCCCTGGAACTTATCATTTATTGGAGGAATCAGGGTTACTTTTAGTGGGGAATGTTATTAAGACAAAAGCCTGAGTGCTAAGTGTGCTCATGGCTACTGGGGTGTTTTTGCTTCTTGAGCCTTTCGGAAGACAGATACACACATGCAAATATATGTCTATATATACATGCCTATGTGCATGAAACATGAACACATCTGCATGCACCCACAAACACAAGCATATAAATATTCCTGAATTCCCAGTGCTACCTCCGGTTCCTATCCATGACCTCACAGTTCTTTCTTGCTTTTCCCTTTTCCATATTTGTAAGTCCCTTCTTCCACGGTGAGAATTCTGGGTCCCAATAACATCAAAACATTTATTAATTTATTTAATCCTGTAACACATCTAAAATTTTCAGAATCACTTTGCCTATACCACTATAAAAAACAAACTAAAAAGAACTCAGAAATTATTTGTAGTTCTTCTCCCCCGCTCCACCCTGCCCAAGAATGAGGATATAGAGTCAAACACTGTGTTCAGCAGTTGTTTGTGTTAGCTCTATCCCCCTTTTGCAAGATTATGATATTTATTTGAAATAAAATTGGGTTACTTTATTTAGTTTGCTGTCAGTGTTAGGTTTTCTTTTTGTTTTCATTTTTGCCTACTTCCCATTCTTACTGATTTTTTTTGAATATGTGGAACATTAACATGCTTCCAAAAATTAAAACTATACAAAAATATATCCCCAGAAGTACTGTTTCCTCCCATTTTTCTTTCTTCCCATTTTCTTCTTGTTGATCACCAAATTCATTGTTTTCTGGTTTATCCTTTCTACGTTCTATTTGCAAAGGTAAGCAGACATACGTTTACTTTCTTGTTTTTCCTTCTTTCTTACATACAAAGTAGCGTTCTCTATGTTCTGTTTTCCACTTTGCTTTTTATCATTTAACAGTATTTACTGGAAATATCTCCATATCAGTTTACTGAGACTTTTCTTCTTCTTTTTTATAGTTGCGTAAGACTTTATTGTGTGTCTGTACCATAAATTATTCAGCCAATCTACAATGACTAAACATTTAGGTAACTTCCAGCATTTTGCAATTACAAATGCAATGGATCACCTTATACATATTCATTTTGCACTGTGGGAGATGCATCTTCAGGATAAACTCTTAGACGTGTGATTGCTGAGTCAGAGGATAAATGCATACAACATTTTGTTAGATATGAGAGTGGGGATTTTTTTTTGTCTGTCTTGTTCACTGCTATACTCCTGGTTTCTAGAACAGTACTTGGCACACAGTAGACACATAGTAAACATTTGTTGGAATGAATGAATGAATAGCACGCTTCAGTTTCTCATCTCCAAGAGAATGCACTCTCATGAAACAGGCTTGTAATTAACCAGACTCCTATGTGGCCACAACAAAACATTTTTCACCTTTTCGATTTCTTCTGCTGGTACACCTCGAAGCCGGGCATAAAGGTAAAGACGTTCTCGTCCTGTGAGCAGCTCATCAATTGCATCAAACTGAGGACAGTAGCCCATATTTTGATGGACTTCAGAAATATTGGTTAAAATACTGCAAGAAAAAAAGCAATTACTGAGTATCCTTCAAGGAGTGGAGGGATGACCATAGAGCTAGGGCTGGAGAAGCTTCTGCCAACGGGAAAAGGAAGCTGCTTCTTCTCTTCTCCTATTTGGCTTCAGAAATGCATGGGATATTTGGGAATCAAAACAGGGGCCCTTCGGTTAGAAACTGAATCCTGTCAGATTCTTCCATGTTTCCATGTCTAGGATTAATTGAATCCCTGTTACGCCAAAAGTCAGCTTTCATTTTGGATCAGATCACCTCACATGTGAGTTTAAAAACAGAGGGAAGATCAGGTTTAAGAAAATGATTCATGATTTATCAATAATTTTCAGACATTTGGGAAGTAACTAGAAAAGATGCATGTGTCCCGATGGAAGTAAACTTCTCTATCTGTATTTATTGGCAAAGATAGCAATGAAAGAGGAGCCAGTCAGATAACTACCCACAGCGAGAGGCCTGCAGGGAGCAGGGGTAGAGTGAGTTGGGTTCCACCAACTCCCTTTGGCTAATATATTCACCCCCACTAAAAAATATATTGCCAAGATGGAAAATAAACTATACATAGACATTTAGTCTAATCTCATCCTTTTCTTCTTATAGCTTAGGGTCTATGAATAAAGGATGGATGATATAGGATGGTACAGAGAGACCATTACAGTTCCCCACAATGACAAAAGCCACCAAAGGCATGGCTGGGCCAATTAAAACTACTCAGGGAAGCAAGTAGGGTACGTTTCCAAATTAGTGGGAGCTACCCTACCATATAATCCCAATTCTGTGTCTTAAGCCTATAGTTTCTTTCTAGCGTCCAGCTCAGTTTTACCTTCTGGATGTCAGACTGTGCCTCACTTGGACACAGTTGTAACTTGATGTCTCATAAATGTGCTCATGGAAAATTCTATGATATCTTTCCCCTGCCATGGTATGATATCTCTACCCTGCCATGACTCCTTTTGTCACCATGAGGAAGTCACCTGCGTGGTCACTTGCAGGTGAAGCTGGATCTGTTGAGATGGACTCAGCCATGACCTGGCTTCACCCCTGCCTGTCCCTTTTCTGTAAACCCAGTAGGGCTGGCTATGGAGGCCAAAGAATCAAATTCATCCTGTCTGAGCCAGTGAAGCGTGCTCAGGACTCGTCCTGCCCACTGGGCATTGGGCCATGCTGAGGATGGCTTTCAGGAGAGAGGAAGAGGCCCCAGTCAAGCAGATGCTGGACAGATGTCAGCAGCACCTAACTCCACTTATAAACCAGGGCAGAGGCTTCCTCTGGGCACCTCTATTGTGTGTGCTGAAGTTTTACTGTTCAAGCTTTTCCTGCAGCCAGGAAAGAGGCAGATGAGTGAGAGCTCATCCTCTCTGTCCTGCCCATAGGGGACCAGTCTGTTTAAACACATTTTATTACAGAGAGCAGCAGTCACCCTCCAGAATCCAAGGGCACACGCCAGTTTTCCCTCTATGCTCCTTGGTCTGGCAAAGCCAAATATCAGCCTACAAATAGCCAATGCAGGTTAGGCTACCCCAAAGGCCCATGCATGAGCCCCTATCTAGAAACTCAACCCAGAGGAAGGATTCTTCATTCATCACAGGGGTTCTTAACCTGGGATTCAAGAGCTCCTGCAGGATCATAAATGTGACCTGGGGCTCAGTAAACTCCCTGAAACGTTTTGTAAAAATGTGTGGAGGGAGGTAATGGGAAGCAATGGTGCATTTTTATAGGAATAGGCTACAAATATTCATCAGATGCTTAAAAGGTTCCGTGACCTCTAAGAGATTAAGAACCACACACTTAGTGCTTCCCAGGTCTTTCCAAGAATCCATCCCAACAGAGGAATCTCTTAACTATCACAATTCAGTTCACTTTTCCATTGGGTCTATGTGTTGGGCTTTTTGGGCCATGCTCTCTGGGAGGCCTCCTTCTCTGTACAGATCTTTCAGGGCCTCAGA
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Task1_train_1130
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This is a variant in ABCA4 (ATP binding cassette subfamily A member 4), located on Chromosome 1. Is this mutation a likely cause of disease or not?
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Pathogenic; not provided
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CATGAGATGTCCATCTGCCCCTTATGGTTAATTTTGATCACCCAGTTAAGGTGCTGTCTAATTTCTCCATTGTAAAATTATTATGTTTCTCCCATGTAACCAATAAGCAATCTGTACAGAGTTACTTTTATTTCTTTAAAATTATATTATTATTATTTTAAGAGACAGAGTCTTGCTCTGTTTCCCAGGCTGGAGAGCAGTGGCTTGATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCATTCCTCCCACCTCAGCCACCTGAGTAGCTGGGACTATAGGCGTGCACCACCAGGCCCAGCTAATTTGTTTGCTAATTTTTTGTAGAGACAGGGTCTCCCTATGTTGCACAGGCTAATCTGGAACTCCTGGGCTCAAGCGATCTTCCTACCTTGGCCTCCCAAAGTGCTGCGATTACAGGTGTGAGCCACCATGCCCAGCCCCTTATTTTTTTTTTAAAAGCACTTCCTTACTTTCTGGCATAAGATATTCCAGGTTCATTTTATACCTATGCCATTCCAGCCCTGGAACTTATCATTTATTGGAGGAATCAGGGTTACTTTTAGTGGGGAATGTTATTAAGACAAAAGCCTGAGTGCTAAGTGTGCTCATGGCTACTGGGGTGTTTTTGCTTCTTGAGCCTTTCGGAAGACAGATACACACATGCAAATATATGTCTATATATACATGCCTATGTGCATGAAACATGAACACATCTGCATGCACCCACAAACACAAGCATATAAATATTCCTGAATTCCCAGTGCTACCTCCGGTTCCTATCCATGACCTCACAGTTCTTTCTTGCTTTTCCCTTTTCCATATTTGTAAGTCCCTTCTTCCACGGTGAGAATTCTGGGTCCCAATAACATCAAAACATTTATTAATTTATTTAATCCTGTAACACATCTAAAATTTTCAGAATCACTTTGCCTATACCACTATAAAAAACAAACTAAAAAGAACTCAGAAATTATTTGTAGTTCTTCTCCCCCGCTCCACCCTGCCCAAGAATGAGGATATAGAGTCAAACACTGTGTTCAGCAGTTGTTTGTGTTAGCTCTATCCCCCTTTTGCAAGATTATGATATTTATTTGAAATAAAATTGGGTTACTTTATTTAGTTTGCTGTCAGTGTTAGGTTTTCTTTTTGTTTTCATTTTTGCCTACTTCCCATTCTTACTGATTTTTTTTGAATATGTGGAACATTAACATGCTTCCAAAAATTAAAACTATACAAAAATATATCCCCAGAAGTACTGTTTCCTCCCATTTTTCTTTCTTCCCATTTTCTTCTTGTTGATCACCAAATTCATTGTTTTCTGGTTTATCCTTTCTACGTTCTATTTGCAAAGGTAAGCAGACATACGTTTACTTTCTTGTTTTTCCTTCTTTCTTACATACAAAGTAGCGTTCTCTATGTTCTGTTTTCCACTTTGCTTTTTATCATTTAACAGTATTTACTGGAAATATCTCCATATCAGTTTACTGAGACTTTTCTTCTTCTTTTTTATAGTTGCGTAAGACTTTATTGTGTGTCTGTACCATAAATTATTCAGCCAATCTACAATGACTAAACATTTAGGTAACTTCCAGCATTTTGCAATTACAAATGCAATGGATCACCTTATACATATTCATTTTGCACTGTGGGAGATGCATCTTCAGGATAAACTCTTAGACGTGTGATTGCTGAGTCAGAGGATAAATGCATACAACATTTTGTTAGATATGAGAGTGGGGATTTTTTTTTGTCTGTCTTGTTCACTGCTATACTCCTGGTTTCTAGAACAGTACTTGGCACACAGTAGACACATAGTAAACATTTGTTGGAATGAATGAATGAATAGCACGCTTCAGTTTCTCATCTCCAAGAGAATGCACTCTCATGAAACAGGCTTGTAATTAACCAGACTCCTATGTGGCCACAACAAAACATTTTTCACCTTTTCGATTTCTTCTGCTGGTACACCTCGAAGCCGGGCATAAAGGTAAAGATGTTCTCGTCCTGTGAGCAGCTCATCAATTGCATCAAACTGAGGACAGTAGCCCATATTTTGATGGACTTCAGAAATATTGGTTAAAATACTGCAAGAAAAAAAGCAATTACTGAGTATCCTTCAAGGAGTGGAGGGATGACCATAGAGCTAGGGCTGGAGAAGCTTCTGCCAACGGGAAAAGGAAGCTGCTTCTTCTCTTCTCCTATTTGGCTTCAGAAATGCATGGGATATTTGGGAATCAAAACAGGGGCCCTTCGGTTAGAAACTGAATCCTGTCAGATTCTTCCATGTTTCCATGTCTAGGATTAATTGAATCCCTGTTACGCCAAAAGTCAGCTTTCATTTTGGATCAGATCACCTCACATGTGAGTTTAAAAACAGAGGGAAGATCAGGTTTAAGAAAATGATTCATGATTTATCAATAATTTTCAGACATTTGGGAAGTAACTAGAAAAGATGCATGTGTCCCGATGGAAGTAAACTTCTCTATCTGTATTTATTGGCAAAGATAGCAATGAAAGAGGAGCCAGTCAGATAACTACCCACAGCGAGAGGCCTGCAGGGAGCAGGGGTAGAGTGAGTTGGGTTCCACCAACTCCCTTTGGCTAATATATTCACCCCCACTAAAAAATATATTGCCAAGATGGAAAATAAACTATACATAGACATTTAGTCTAATCTCATCCTTTTCTTCTTATAGCTTAGGGTCTATGAATAAAGGATGGATGATATAGGATGGTACAGAGAGACCATTACAGTTCCCCACAATGACAAAAGCCACCAAAGGCATGGCTGGGCCAATTAAAACTACTCAGGGAAGCAAGTAGGGTACGTTTCCAAATTAGTGGGAGCTACCCTACCATATAATCCCAATTCTGTGTCTTAAGCCTATAGTTTCTTTCTAGCGTCCAGCTCAGTTTTACCTTCTGGATGTCAGACTGTGCCTCACTTGGACACAGTTGTAACTTGATGTCTCATAAATGTGCTCATGGAAAATTCTATGATATCTTTCCCCTGCCATGGTATGATATCTCTACCCTGCCATGACTCCTTTTGTCACCATGAGGAAGTCACCTGCGTGGTCACTTGCAGGTGAAGCTGGATCTGTTGAGATGGACTCAGCCATGACCTGGCTTCACCCCTGCCTGTCCCTTTTCTGTAAACCCAGTAGGGCTGGCTATGGAGGCCAAAGAATCAAATTCATCCTGTCTGAGCCAGTGAAGCGTGCTCAGGACTCGTCCTGCCCACTGGGCATTGGGCCATGCTGAGGATGGCTTTCAGGAGAGAGGAAGAGGCCCCAGTCAAGCAGATGCTGGACAGATGTCAGCAGCACCTAACTCCACTTATAAACCAGGGCAGAGGCTTCCTCTGGGCACCTCTATTGTGTGTGCTGAAGTTTTACTGTTCAAGCTTTTCCTGCAGCCAGGAAAGAGGCAGATGAGTGAGAGCTCATCCTCTCTGTCCTGCCCATAGGGGACCAGTCTGTTTAAACACATTTTATTACAGAGAGCAGCAGTCACCCTCCAGAATCCAAGGGCACACGCCAGTTTTCCCTCTATGCTCCTTGGTCTGGCAAAGCCAAATATCAGCCTACAAATAGCCAATGCAGGTTAGGCTACCCCAAAGGCCCATGCATGAGCCCCTATCTAGAAACTCAACCCAGAGGAAGGATTCTTCATTCATCACAGGGGTTCTTAACCTGGGATTCAAGAGCTCCTGCAGGATCATAAATGTGACCTGGGGCTCAGTAAACTCCCTGAAACGTTTTGTAAAAATGTGTGGAGGGAGGTAATGGGAAGCAATGGTGCATTTTTATAGGAATAGGCTACAAATATTCATCAGATGCTTAAAAGGTTCCGTGACCTCTAAGAGATTAAGAACCACACACTTAGTGCTTCCCAGGTCTTTCCAAGAATCCATCCCAACAGAGGAATCTCTTAACTATCACAATTCAGTTCACTTTTCCATTGGGTCTATGTGTTGGGCTTTTTGGGCCATGCTCTCTGGGAGGCCTCCTTCTCTGTACAGATCTTTCAGGGCCTCAGAGCCACCCTACTATAGGGTCTGATGATCACCCTTCCTATTCTTCTCA
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CATGAGATGTCCATCTGCCCCTTATGGTTAATTTTGATCACCCAGTTAAGGTGCTGTCTAATTTCTCCATTGTAAAATTATTATGTTTCTCCCATGTAACCAATAAGCAATCTGTACAGAGTTACTTTTATTTCTTTAAAATTATATTATTATTATTTTAAGAGACAGAGTCTTGCTCTGTTTCCCAGGCTGGAGAGCAGTGGCTTGATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCATTCCTCCCACCTCAGCCACCTGAGTAGCTGGGACTATAGGCGTGCACCACCAGGCCCAGCTAATTTGTTTGCTAATTTTTTGTAGAGACAGGGTCTCCCTATGTTGCACAGGCTAATCTGGAACTCCTGGGCTCAAGCGATCTTCCTACCTTGGCCTCCCAAAGTGCTGCGATTACAGGTGTGAGCCACCATGCCCAGCCCCTTATTTTTTTTTTAAAAGCACTTCCTTACTTTCTGGCATAAGATATTCCAGGTTCATTTTATACCTATGCCATTCCAGCCCTGGAACTTATCATTTATTGGAGGAATCAGGGTTACTTTTAGTGGGGAATGTTATTAAGACAAAAGCCTGAGTGCTAAGTGTGCTCATGGCTACTGGGGTGTTTTTGCTTCTTGAGCCTTTCGGAAGACAGATACACACATGCAAATATATGTCTATATATACATGCCTATGTGCATGAAACATGAACACATCTGCATGCACCCACAAACACAAGCATATAAATATTCCTGAATTCCCAGTGCTACCTCCGGTTCCTATCCATGACCTCACAGTTCTTTCTTGCTTTTCCCTTTTCCATATTTGTAAGTCCCTTCTTCCACGGTGAGAATTCTGGGTCCCAATAACATCAAAACATTTATTAATTTATTTAATCCTGTAACACATCTAAAATTTTCAGAATCACTTTGCCTATACCACTATAAAAAACAAACTAAAAAGAACTCAGAAATTATTTGTAGTTCTTCTCCCCCGCTCCACCCTGCCCAAGAATGAGGATATAGAGTCAAACACTGTGTTCAGCAGTTGTTTGTGTTAGCTCTATCCCCCTTTTGCAAGATTATGATATTTATTTGAAATAAAATTGGGTTACTTTATTTAGTTTGCTGTCAGTGTTAGGTTTTCTTTTTGTTTTCATTTTTGCCTACTTCCCATTCTTACTGATTTTTTTTGAATATGTGGAACATTAACATGCTTCCAAAAATTAAAACTATACAAAAATATATCCCCAGAAGTACTGTTTCCTCCCATTTTTCTTTCTTCCCATTTTCTTCTTGTTGATCACCAAATTCATTGTTTTCTGGTTTATCCTTTCTACGTTCTATTTGCAAAGGTAAGCAGACATACGTTTACTTTCTTGTTTTTCCTTCTTTCTTACATACAAAGTAGCGTTCTCTATGTTCTGTTTTCCACTTTGCTTTTTATCATTTAACAGTATTTACTGGAAATATCTCCATATCAGTTTACTGAGACTTTTCTTCTTCTTTTTTATAGTTGCGTAAGACTTTATTGTGTGTCTGTACCATAAATTATTCAGCCAATCTACAATGACTAAACATTTAGGTAACTTCCAGCATTTTGCAATTACAAATGCAATGGATCACCTTATACATATTCATTTTGCACTGTGGGAGATGCATCTTCAGGATAAACTCTTAGACGTGTGATTGCTGAGTCAGAGGATAAATGCATACAACATTTTGTTAGATATGAGAGTGGGGATTTTTTTTTGTCTGTCTTGTTCACTGCTATACTCCTGGTTTCTAGAACAGTACTTGGCACACAGTAGACACATAGTAAACATTTGTTGGAATGAATGAATGAATAGCACGCTTCAGTTTCTCATCTCCAAGAGAATGCACTCTCATGAAACAGGCTTGTAATTAACCAGACTCCTATGTGGCCACAACAAAACATTTTTCACCTTTTCGATTTCTTCTGCTGGTACACCTCGAAGCCGGGCATAAAGGTAAAGATGTTCTCGTCCTGTGAGCAGCTCATCAATTGCATCAAACTGAGGACGGTAGCCCATATTTTGATGGACTTCAGAAATATTGGTTAAAATACTGCAAGAAAAAAAGCAATTACTGAGTATCCTTCAAGGAGTGGAGGGATGACCATAGAGCTAGGGCTGGAGAAGCTTCTGCCAACGGGAAAAGGAAGCTGCTTCTTCTCTTCTCCTATTTGGCTTCAGAAATGCATGGGATATTTGGGAATCAAAACAGGGGCCCTTCGGTTAGAAACTGAATCCTGTCAGATTCTTCCATGTTTCCATGTCTAGGATTAATTGAATCCCTGTTACGCCAAAAGTCAGCTTTCATTTTGGATCAGATCACCTCACATGTGAGTTTAAAAACAGAGGGAAGATCAGGTTTAAGAAAATGATTCATGATTTATCAATAATTTTCAGACATTTGGGAAGTAACTAGAAAAGATGCATGTGTCCCGATGGAAGTAAACTTCTCTATCTGTATTTATTGGCAAAGATAGCAATGAAAGAGGAGCCAGTCAGATAACTACCCACAGCGAGAGGCCTGCAGGGAGCAGGGGTAGAGTGAGTTGGGTTCCACCAACTCCCTTTGGCTAATATATTCACCCCCACTAAAAAATATATTGCCAAGATGGAAAATAAACTATACATAGACATTTAGTCTAATCTCATCCTTTTCTTCTTATAGCTTAGGGTCTATGAATAAAGGATGGATGATATAGGATGGTACAGAGAGACCATTACAGTTCCCCACAATGACAAAAGCCACCAAAGGCATGGCTGGGCCAATTAAAACTACTCAGGGAAGCAAGTAGGGTACGTTTCCAAATTAGTGGGAGCTACCCTACCATATAATCCCAATTCTGTGTCTTAAGCCTATAGTTTCTTTCTAGCGTCCAGCTCAGTTTTACCTTCTGGATGTCAGACTGTGCCTCACTTGGACACAGTTGTAACTTGATGTCTCATAAATGTGCTCATGGAAAATTCTATGATATCTTTCCCCTGCCATGGTATGATATCTCTACCCTGCCATGACTCCTTTTGTCACCATGAGGAAGTCACCTGCGTGGTCACTTGCAGGTGAAGCTGGATCTGTTGAGATGGACTCAGCCATGACCTGGCTTCACCCCTGCCTGTCCCTTTTCTGTAAACCCAGTAGGGCTGGCTATGGAGGCCAAAGAATCAAATTCATCCTGTCTGAGCCAGTGAAGCGTGCTCAGGACTCGTCCTGCCCACTGGGCATTGGGCCATGCTGAGGATGGCTTTCAGGAGAGAGGAAGAGGCCCCAGTCAAGCAGATGCTGGACAGATGTCAGCAGCACCTAACTCCACTTATAAACCAGGGCAGAGGCTTCCTCTGGGCACCTCTATTGTGTGTGCTGAAGTTTTACTGTTCAAGCTTTTCCTGCAGCCAGGAAAGAGGCAGATGAGTGAGAGCTCATCCTCTCTGTCCTGCCCATAGGGGACCAGTCTGTTTAAACACATTTTATTACAGAGAGCAGCAGTCACCCTCCAGAATCCAAGGGCACACGCCAGTTTTCCCTCTATGCTCCTTGGTCTGGCAAAGCCAAATATCAGCCTACAAATAGCCAATGCAGGTTAGGCTACCCCAAAGGCCCATGCATGAGCCCCTATCTAGAAACTCAACCCAGAGGAAGGATTCTTCATTCATCACAGGGGTTCTTAACCTGGGATTCAAGAGCTCCTGCAGGATCATAAATGTGACCTGGGGCTCAGTAAACTCCCTGAAACGTTTTGTAAAAATGTGTGGAGGGAGGTAATGGGAAGCAATGGTGCATTTTTATAGGAATAGGCTACAAATATTCATCAGATGCTTAAAAGGTTCCGTGACCTCTAAGAGATTAAGAACCACACACTTAGTGCTTCCCAGGTCTTTCCAAGAATCCATCCCAACAGAGGAATCTCTTAACTATCACAATTCAGTTCACTTTTCCATTGGGTCTATGTGTTGGGCTTTTTGGGCCATGCTCTCTGGGAGGCCTCCTTCTCTGTACAGATCTTTCAGGGCCTCAGAGCCACCCTACTATAGGGTCTGATGATCACCCTTCCTATTCTTCTCA
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Task1_train_1131
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A variant was discovered in gene ABCA4 (ATP binding cassette subfamily A member 4), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; not provided
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ATCCTTCAAGGAGTGGAGGGATGACCATAGAGCTAGGGCTGGAGAAGCTTCTGCCAACGGGAAAAGGAAGCTGCTTCTTCTCTTCTCCTATTTGGCTTCAGAAATGCATGGGATATTTGGGAATCAAAACAGGGGCCCTTCGGTTAGAAACTGAATCCTGTCAGATTCTTCCATGTTTCCATGTCTAGGATTAATTGAATCCCTGTTACGCCAAAAGTCAGCTTTCATTTTGGATCAGATCACCTCACATGTGAGTTTAAAAACAGAGGGAAGATCAGGTTTAAGAAAATGATTCATGATTTATCAATAATTTTCAGACATTTGGGAAGTAACTAGAAAAGATGCATGTGTCCCGATGGAAGTAAACTTCTCTATCTGTATTTATTGGCAAAGATAGCAATGAAAGAGGAGCCAGTCAGATAACTACCCACAGCGAGAGGCCTGCAGGGAGCAGGGGTAGAGTGAGTTGGGTTCCACCAACTCCCTTTGGCTAATATATTCACCCCCACTAAAAAATATATTGCCAAGATGGAAAATAAACTATACATAGACATTTAGTCTAATCTCATCCTTTTCTTCTTATAGCTTAGGGTCTATGAATAAAGGATGGATGATATAGGATGGTACAGAGAGACCATTACAGTTCCCCACAATGACAAAAGCCACCAAAGGCATGGCTGGGCCAATTAAAACTACTCAGGGAAGCAAGTAGGGTACGTTTCCAAATTAGTGGGAGCTACCCTACCATATAATCCCAATTCTGTGTCTTAAGCCTATAGTTTCTTTCTAGCGTCCAGCTCAGTTTTACCTTCTGGATGTCAGACTGTGCCTCACTTGGACACAGTTGTAACTTGATGTCTCATAAATGTGCTCATGGAAAATTCTATGATATCTTTCCCCTGCCATGGTATGATATCTCTACCCTGCCATGACTCCTTTTGTCACCATGAGGAAGTCACCTGCGTGGTCACTTGCAGGTGAAGCTGGATCTGTTGAGATGGACTCAGCCATGACCTGGCTTCACCCCTGCCTGTCCCTTTTCTGTAAACCCAGTAGGGCTGGCTATGGAGGCCAAAGAATCAAATTCATCCTGTCTGAGCCAGTGAAGCGTGCTCAGGACTCGTCCTGCCCACTGGGCATTGGGCCATGCTGAGGATGGCTTTCAGGAGAGAGGAAGAGGCCCCAGTCAAGCAGATGCTGGACAGATGTCAGCAGCACCTAACTCCACTTATAAACCAGGGCAGAGGCTTCCTCTGGGCACCTCTATTGTGTGTGCTGAAGTTTTACTGTTCAAGCTTTTCCTGCAGCCAGGAAAGAGGCAGATGAGTGAGAGCTCATCCTCTCTGTCCTGCCCATAGGGGACCAGTCTGTTTAAACACATTTTATTACAGAGAGCAGCAGTCACCCTCCAGAATCCAAGGGCACACGCCAGTTTTCCCTCTATGCTCCTTGGTCTGGCAAAGCCAAATATCAGCCTACAAATAGCCAATGCAGGTTAGGCTACCCCAAAGGCCCATGCATGAGCCCCTATCTAGAAACTCAACCCAGAGGAAGGATTCTTCATTCATCACAGGGGTTCTTAACCTGGGATTCAAGAGCTCCTGCAGGATCATAAATGTGACCTGGGGCTCAGTAAACTCCCTGAAACGTTTTGTAAAAATGTGTGGAGGGAGGTAATGGGAAGCAATGGTGCATTTTTATAGGAATAGGCTACAAATATTCATCAGATGCTTAAAAGGTTCCGTGACCTCTAAGAGATTAAGAACCACACACTTAGTGCTTCCCAGGTCTTTCCAAGAATCCATCCCAACAGAGGAATCTCTTAACTATCACAATTCAGTTCACTTTTCCATTGGGTCTATGTGTTGGGCTTTTTGGGCCATGCTCTCTGGGAGGCCTCCTTCTCTGTACAGATCTTTCAGGGCCTCAGAGCCACCCTACTATAGGGTCTGATGATCACCCTTCCTATTCTTCTCACAGGACCTGTGAGAGACTCCCTGAGACAGGAGGAGCAGGATACTCACCTCTTGCCTGCTACGGTGGCATCCCCTGAGGTCACTGTGGTGTCCCCAGTGAGCATCTTGAATGTGGTTGTTTTGCCGGCACCATTCACTCCCAGGAGGCCAAAGCACTAGGAGAAAACACAGAGCTAGCCTGGCCCTAGAGATCAAGAAGGTCTAAAATGTCAGGCCCCAGGGTAAGTGTGTGTGTGAGCTGGGGGAGGAATTTTAGACCTGGGCTGCCATCAGAGGCCACGAGCCATATGTGGCTACTAAGCACTTGAAACACATCTAAGTCCCAGTTGACACGGGCCCTGAGTGTAAAGATTCAAAGACTTAAAAACAACGAGAAATTGTCAAATATTTCATTAATAAGGTTTTCTATTAATTACATTTTGAAATAATATTTTGGTTATATTGAGTAAAATAAAAAATACTAATGAAATTAATTTTACCTATTTTCTTTTTACTTTTCTCATGTGGCTAGTGGAAGATTTAAAATTACATATGTGACTTGCATTATGGCATTATGTTCCTATTGAATAGCTCTGCCTTATGGGGAGGAGAGGCAGGCACAAGAGCTGATGTTCGGAAGCCTTTCACACGTGGTCTGCAGAGTACCCACCTCTCCAGGGCGAACTCCGACACACAGCCTGTCCACTGCTGGGCTGGAGGTGCCTGGATAAATCTGCAAGATACGAAGAAACCGGACTGAGAACTGAGACAGGGTGAGAGCAAGGAGGGGAAGAGGGAACAAAGAGCAAAGGATGGTTTAGGAGAAAACTACCAGCACTAGGAGGTTACATATTGACATGGGCAGGCACAGAGGTGTGGTGAGTACTGAGACATCTCGAGGCTGACCCATGCTCTGCAGAAACAGAACACAGAAAAGGGAATGATGCTCAGCTGGAGTGATTCTCACTGAGGCCCTGTGTCAGTGCCCGAGATGAATAGCAGGGAACACACATTGGAATTAGATGCTCTTGGAAGACGAGTTATAACACAGGGATGATGACCCTACATAAAACTGGGAACCAAATTGCTTGCATAAGCATATCAATTGTTCTATAGAAGGAAAATGGCAACATCATGCCAACTGTGGATCTAACCAGCACCTCCAAACTCATACCCATTCCCTTACCTTGGTTAGTTCATGTAGCCTTAAGATGTCAGTTTTATTTCCACCAGTAATAATTCTTTGTCTTTCTTCAGCCACATCATCATCTTCATCAACAATGGGCTCCTTAGTGGGCTCGGCAATCCTAGATGAAGAAAAGGGGTCAGGATTGGGCTGGCTGTACAGTGTCCTTGGCACTGTCCTTTCCATGGGACCTCTCTTCCACTTCCTTGCTTCTGCTTCCTTCTGGGCTTCCATCCTTTAAGACTTAAATTCTAAAAAGGGCTCCCAGCAGGAGAGGCATTAGGCATTAGGTAGAGAGGTCAGGTGCTCATGTCCAGAGTCAGCCTTGGGTTCCAGTCCTGGCCTCCTCATGTGTGATCTTGGGCATTGGACCTCTCTGAACCTTGCCTACTTCAACCATGTGATGAGGAGGAGGGTAACAATACCTGTCTCATAGGATTGTGCTGAAGATGAACTCAGCACAGTGCCTGGCACAGAGTAAAGACTCAGGGCCTGGGATCACCGTCAGGACTAAAATGCTTCCTCTACAGCAAGCACTCAGTAAGGGGTAGTTACTAACCTCCGAGCCTCCCACTTCCTCCAGTCTGCCCTGCCAACTCCACCTTTCCAAAACAGAGTTGTCATCAGGCCACCTCATGCCTCAAAACCTTCTGTTGTTCCCCATCAGCTGTAGGTTGAAGCCCTCCCTCTGCAGCTGTAGTTACAGCCCTGCAATCCAGCCCCACCTACCCTTCTCACTTACCTCTTGCACTAACTCCTCTGTCAGCAATTGGCATCTCCCCCTGGTTCCCAGTCCTATTGGTCATTCCCGTCTCCCAGCCTCCGCATGTGTTTCCAGTCCCTCAATGTTCTCCTCCTCCTGCCCCACCAAATGGAATCTTCCCCATTCTTAAAGACACAGCCTCTTCTTTGAAACCCTCCCTGACCTTCTGGAAGCCAGGGACTATGGTGTACT
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ATCCTTCAAGGAGTGGAGGGATGACCATAGAGCTAGGGCTGGAGAAGCTTCTGCCAACGGGAAAAGGAAGCTGCTTCTTCTCTTCTCCTATTTGGCTTCAGAAATGCATGGGATATTTGGGAATCAAAACAGGGGCCCTTCGGTTAGAAACTGAATCCTGTCAGATTCTTCCATGTTTCCATGTCTAGGATTAATTGAATCCCTGTTACGCCAAAAGTCAGCTTTCATTTTGGATCAGATCACCTCACATGTGAGTTTAAAAACAGAGGGAAGATCAGGTTTAAGAAAATGATTCATGATTTATCAATAATTTTCAGACATTTGGGAAGTAACTAGAAAAGATGCATGTGTCCCGATGGAAGTAAACTTCTCTATCTGTATTTATTGGCAAAGATAGCAATGAAAGAGGAGCCAGTCAGATAACTACCCACAGCGAGAGGCCTGCAGGGAGCAGGGGTAGAGTGAGTTGGGTTCCACCAACTCCCTTTGGCTAATATATTCACCCCCACTAAAAAATATATTGCCAAGATGGAAAATAAACTATACATAGACATTTAGTCTAATCTCATCCTTTTCTTCTTATAGCTTAGGGTCTATGAATAAAGGATGGATGATATAGGATGGTACAGAGAGACCATTACAGTTCCCCACAATGACAAAAGCCACCAAAGGCATGGCTGGGCCAATTAAAACTACTCAGGGAAGCAAGTAGGGTACGTTTCCAAATTAGTGGGAGCTACCCTACCATATAATCCCAATTCTGTGTCTTAAGCCTATAGTTTCTTTCTAGCGTCCAGCTCAGTTTTACCTTCTGGATGTCAGACTGTGCCTCACTTGGACACAGTTGTAACTTGATGTCTCATAAATGTGCTCATGGAAAATTCTATGATATCTTTCCCCTGCCATGGTATGATATCTCTACCCTGCCATGACTCCTTTTGTCACCATGAGGAAGTCACCTGCGTGGTCACTTGCAGGTGAAGCTGGATCTGTTGAGATGGACTCAGCCATGACCTGGCTTCACCCCTGCCTGTCCCTTTTCTGTAAACCCAGTAGGGCTGGCTATGGAGGCCAAAGAATCAAATTCATCCTGTCTGAGCCAGTGAAGCGTGCTCAGGACTCGTCCTGCCCACTGGGCATTGGGCCATGCTGAGGATGGCTTTCAGGAGAGAGGAAGAGGCCCCAGTCAAGCAGATGCTGGACAGATGTCAGCAGCACCTAACTCCACTTATAAACCAGGGCAGAGGCTTCCTCTGGGCACCTCTATTGTGTGTGCTGAAGTTTTACTGTTCAAGCTTTTCCTGCAGCCAGGAAAGAGGCAGATGAGTGAGAGCTCATCCTCTCTGTCCTGCCCATAGGGGACCAGTCTGTTTAAACACATTTTATTACAGAGAGCAGCAGTCACCCTCCAGAATCCAAGGGCACACGCCAGTTTTCCCTCTATGCTCCTTGGTCTGGCAAAGCCAAATATCAGCCTACAAATAGCCAATGCAGGTTAGGCTACCCCAAAGGCCCATGCATGAGCCCCTATCTAGAAACTCAACCCAGAGGAAGGATTCTTCATTCATCACAGGGGTTCTTAACCTGGGATTCAAGAGCTCCTGCAGGATCATAAATGTGACCTGGGGCTCAGTAAACTCCCTGAAACGTTTTGTAAAAATGTGTGGAGGGAGGTAATGGGAAGCAATGGTGCATTTTTATAGGAATAGGCTACAAATATTCATCAGATGCTTAAAAGGTTCCGTGACCTCTAAGAGATTAAGAACCACACACTTAGTGCTTCCCAGGTCTTTCCAAGAATCCATCCCAACAGAGGAATCTCTTAACTATCACAATTCAGTTCACTTTTCCATTGGGTCTATGTGTTGGGCTTTTTGGGCCATGCTCTCTGGGAGGCCTCCTTCTCTGTACAGATCTTTCAGGGCCTCAGAGCCACCCTACTATAGGGTCTGATGATCACCCTTCCTATTCTTCTCACAGGACCTGTGAGAGACTCCCTGAGACAGGAGGAGCAGGATACTCACCTCTTGCCTGCTACGGTGGCATCCTCTGAGGTCACTGTGGTGTCCCCAGTGAGCATCTTGAATGTGGTTGTTTTGCCGGCACCATTCACTCCCAGGAGGCCAAAGCACTAGGAGAAAACACAGAGCTAGCCTGGCCCTAGAGATCAAGAAGGTCTAAAATGTCAGGCCCCAGGGTAAGTGTGTGTGTGAGCTGGGGGAGGAATTTTAGACCTGGGCTGCCATCAGAGGCCACGAGCCATATGTGGCTACTAAGCACTTGAAACACATCTAAGTCCCAGTTGACACGGGCCCTGAGTGTAAAGATTCAAAGACTTAAAAACAACGAGAAATTGTCAAATATTTCATTAATAAGGTTTTCTATTAATTACATTTTGAAATAATATTTTGGTTATATTGAGTAAAATAAAAAATACTAATGAAATTAATTTTACCTATTTTCTTTTTACTTTTCTCATGTGGCTAGTGGAAGATTTAAAATTACATATGTGACTTGCATTATGGCATTATGTTCCTATTGAATAGCTCTGCCTTATGGGGAGGAGAGGCAGGCACAAGAGCTGATGTTCGGAAGCCTTTCACACGTGGTCTGCAGAGTACCCACCTCTCCAGGGCGAACTCCGACACACAGCCTGTCCACTGCTGGGCTGGAGGTGCCTGGATAAATCTGCAAGATACGAAGAAACCGGACTGAGAACTGAGACAGGGTGAGAGCAAGGAGGGGAAGAGGGAACAAAGAGCAAAGGATGGTTTAGGAGAAAACTACCAGCACTAGGAGGTTACATATTGACATGGGCAGGCACAGAGGTGTGGTGAGTACTGAGACATCTCGAGGCTGACCCATGCTCTGCAGAAACAGAACACAGAAAAGGGAATGATGCTCAGCTGGAGTGATTCTCACTGAGGCCCTGTGTCAGTGCCCGAGATGAATAGCAGGGAACACACATTGGAATTAGATGCTCTTGGAAGACGAGTTATAACACAGGGATGATGACCCTACATAAAACTGGGAACCAAATTGCTTGCATAAGCATATCAATTGTTCTATAGAAGGAAAATGGCAACATCATGCCAACTGTGGATCTAACCAGCACCTCCAAACTCATACCCATTCCCTTACCTTGGTTAGTTCATGTAGCCTTAAGATGTCAGTTTTATTTCCACCAGTAATAATTCTTTGTCTTTCTTCAGCCACATCATCATCTTCATCAACAATGGGCTCCTTAGTGGGCTCGGCAATCCTAGATGAAGAAAAGGGGTCAGGATTGGGCTGGCTGTACAGTGTCCTTGGCACTGTCCTTTCCATGGGACCTCTCTTCCACTTCCTTGCTTCTGCTTCCTTCTGGGCTTCCATCCTTTAAGACTTAAATTCTAAAAAGGGCTCCCAGCAGGAGAGGCATTAGGCATTAGGTAGAGAGGTCAGGTGCTCATGTCCAGAGTCAGCCTTGGGTTCCAGTCCTGGCCTCCTCATGTGTGATCTTGGGCATTGGACCTCTCTGAACCTTGCCTACTTCAACCATGTGATGAGGAGGAGGGTAACAATACCTGTCTCATAGGATTGTGCTGAAGATGAACTCAGCACAGTGCCTGGCACAGAGTAAAGACTCAGGGCCTGGGATCACCGTCAGGACTAAAATGCTTCCTCTACAGCAAGCACTCAGTAAGGGGTAGTTACTAACCTCCGAGCCTCCCACTTCCTCCAGTCTGCCCTGCCAACTCCACCTTTCCAAAACAGAGTTGTCATCAGGCCACCTCATGCCTCAAAACCTTCTGTTGTTCCCCATCAGCTGTAGGTTGAAGCCCTCCCTCTGCAGCTGTAGTTACAGCCCTGCAATCCAGCCCCACCTACCCTTCTCACTTACCTCTTGCACTAACTCCTCTGTCAGCAATTGGCATCTCCCCCTGGTTCCCAGTCCTATTGGTCATTCCCGTCTCCCAGCCTCCGCATGTGTTTCCAGTCCCTCAATGTTCTCCTCCTCCTGCCCCACCAAATGGAATCTTCCCCATTCTTAAAGACACAGCCTCTTCTTTGAAACCCTCCCTGACCTTCTGGAAGCCAGGGACTATGGTGTACT
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Task1_train_1132
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Given a variant located on Chromosome 1 and affecting ABCA4 (ATP binding cassette subfamily A member 4), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Retinal dystrophy
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GCCAACGGGAAAAGGAAGCTGCTTCTTCTCTTCTCCTATTTGGCTTCAGAAATGCATGGGATATTTGGGAATCAAAACAGGGGCCCTTCGGTTAGAAACTGAATCCTGTCAGATTCTTCCATGTTTCCATGTCTAGGATTAATTGAATCCCTGTTACGCCAAAAGTCAGCTTTCATTTTGGATCAGATCACCTCACATGTGAGTTTAAAAACAGAGGGAAGATCAGGTTTAAGAAAATGATTCATGATTTATCAATAATTTTCAGACATTTGGGAAGTAACTAGAAAAGATGCATGTGTCCCGATGGAAGTAAACTTCTCTATCTGTATTTATTGGCAAAGATAGCAATGAAAGAGGAGCCAGTCAGATAACTACCCACAGCGAGAGGCCTGCAGGGAGCAGGGGTAGAGTGAGTTGGGTTCCACCAACTCCCTTTGGCTAATATATTCACCCCCACTAAAAAATATATTGCCAAGATGGAAAATAAACTATACATAGACATTTAGTCTAATCTCATCCTTTTCTTCTTATAGCTTAGGGTCTATGAATAAAGGATGGATGATATAGGATGGTACAGAGAGACCATTACAGTTCCCCACAATGACAAAAGCCACCAAAGGCATGGCTGGGCCAATTAAAACTACTCAGGGAAGCAAGTAGGGTACGTTTCCAAATTAGTGGGAGCTACCCTACCATATAATCCCAATTCTGTGTCTTAAGCCTATAGTTTCTTTCTAGCGTCCAGCTCAGTTTTACCTTCTGGATGTCAGACTGTGCCTCACTTGGACACAGTTGTAACTTGATGTCTCATAAATGTGCTCATGGAAAATTCTATGATATCTTTCCCCTGCCATGGTATGATATCTCTACCCTGCCATGACTCCTTTTGTCACCATGAGGAAGTCACCTGCGTGGTCACTTGCAGGTGAAGCTGGATCTGTTGAGATGGACTCAGCCATGACCTGGCTTCACCCCTGCCTGTCCCTTTTCTGTAAACCCAGTAGGGCTGGCTATGGAGGCCAAAGAATCAAATTCATCCTGTCTGAGCCAGTGAAGCGTGCTCAGGACTCGTCCTGCCCACTGGGCATTGGGCCATGCTGAGGATGGCTTTCAGGAGAGAGGAAGAGGCCCCAGTCAAGCAGATGCTGGACAGATGTCAGCAGCACCTAACTCCACTTATAAACCAGGGCAGAGGCTTCCTCTGGGCACCTCTATTGTGTGTGCTGAAGTTTTACTGTTCAAGCTTTTCCTGCAGCCAGGAAAGAGGCAGATGAGTGAGAGCTCATCCTCTCTGTCCTGCCCATAGGGGACCAGTCTGTTTAAACACATTTTATTACAGAGAGCAGCAGTCACCCTCCAGAATCCAAGGGCACACGCCAGTTTTCCCTCTATGCTCCTTGGTCTGGCAAAGCCAAATATCAGCCTACAAATAGCCAATGCAGGTTAGGCTACCCCAAAGGCCCATGCATGAGCCCCTATCTAGAAACTCAACCCAGAGGAAGGATTCTTCATTCATCACAGGGGTTCTTAACCTGGGATTCAAGAGCTCCTGCAGGATCATAAATGTGACCTGGGGCTCAGTAAACTCCCTGAAACGTTTTGTAAAAATGTGTGGAGGGAGGTAATGGGAAGCAATGGTGCATTTTTATAGGAATAGGCTACAAATATTCATCAGATGCTTAAAAGGTTCCGTGACCTCTAAGAGATTAAGAACCACACACTTAGTGCTTCCCAGGTCTTTCCAAGAATCCATCCCAACAGAGGAATCTCTTAACTATCACAATTCAGTTCACTTTTCCATTGGGTCTATGTGTTGGGCTTTTTGGGCCATGCTCTCTGGGAGGCCTCCTTCTCTGTACAGATCTTTCAGGGCCTCAGAGCCACCCTACTATAGGGTCTGATGATCACCCTTCCTATTCTTCTCACAGGACCTGTGAGAGACTCCCTGAGACAGGAGGAGCAGGATACTCACCTCTTGCCTGCTACGGTGGCATCCCCTGAGGTCACTGTGGTGTCCCCAGTGAGCATCTTGAATGTGGTTGTTTTGCCGGCACCATTCACTCCCAGGAGGCCAAAGCACTAGGAGAAAACACAGAGCTAGCCTGGCCCTAGAGATCAAGAAGGTCTAAAATGTCAGGCCCCAGGGTAAGTGTGTGTGTGAGCTGGGGGAGGAATTTTAGACCTGGGCTGCCATCAGAGGCCACGAGCCATATGTGGCTACTAAGCACTTGAAACACATCTAAGTCCCAGTTGACACGGGCCCTGAGTGTAAAGATTCAAAGACTTAAAAACAACGAGAAATTGTCAAATATTTCATTAATAAGGTTTTCTATTAATTACATTTTGAAATAATATTTTGGTTATATTGAGTAAAATAAAAAATACTAATGAAATTAATTTTACCTATTTTCTTTTTACTTTTCTCATGTGGCTAGTGGAAGATTTAAAATTACATATGTGACTTGCATTATGGCATTATGTTCCTATTGAATAGCTCTGCCTTATGGGGAGGAGAGGCAGGCACAAGAGCTGATGTTCGGAAGCCTTTCACACGTGGTCTGCAGAGTACCCACCTCTCCAGGGCGAACTCCGACACACAGCCTGTCCACTGCTGGGCTGGAGGTGCCTGGATAAATCTGCAAGATACGAAGAAACCGGACTGAGAACTGAGACAGGGTGAGAGCAAGGAGGGGAAGAGGGAACAAAGAGCAAAGGATGGTTTAGGAGAAAACTACCAGCACTAGGAGGTTACATATTGACATGGGCAGGCACAGAGGTGTGGTGAGTACTGAGACATCTCGAGGCTGACCCATGCTCTGCAGAAACAGAACACAGAAAAGGGAATGATGCTCAGCTGGAGTGATTCTCACTGAGGCCCTGTGTCAGTGCCCGAGATGAATAGCAGGGAACACACATTGGAATTAGATGCTCTTGGAAGACGAGTTATAACACAGGGATGATGACCCTACATAAAACTGGGAACCAAATTGCTTGCATAAGCATATCAATTGTTCTATAGAAGGAAAATGGCAACATCATGCCAACTGTGGATCTAACCAGCACCTCCAAACTCATACCCATTCCCTTACCTTGGTTAGTTCATGTAGCCTTAAGATGTCAGTTTTATTTCCACCAGTAATAATTCTTTGTCTTTCTTCAGCCACATCATCATCTTCATCAACAATGGGCTCCTTAGTGGGCTCGGCAATCCTAGATGAAGAAAAGGGGTCAGGATTGGGCTGGCTGTACAGTGTCCTTGGCACTGTCCTTTCCATGGGACCTCTCTTCCACTTCCTTGCTTCTGCTTCCTTCTGGGCTTCCATCCTTTAAGACTTAAATTCTAAAAAGGGCTCCCAGCAGGAGAGGCATTAGGCATTAGGTAGAGAGGTCAGGTGCTCATGTCCAGAGTCAGCCTTGGGTTCCAGTCCTGGCCTCCTCATGTGTGATCTTGGGCATTGGACCTCTCTGAACCTTGCCTACTTCAACCATGTGATGAGGAGGAGGGTAACAATACCTGTCTCATAGGATTGTGCTGAAGATGAACTCAGCACAGTGCCTGGCACAGAGTAAAGACTCAGGGCCTGGGATCACCGTCAGGACTAAAATGCTTCCTCTACAGCAAGCACTCAGTAAGGGGTAGTTACTAACCTCCGAGCCTCCCACTTCCTCCAGTCTGCCCTGCCAACTCCACCTTTCCAAAACAGAGTTGTCATCAGGCCACCTCATGCCTCAAAACCTTCTGTTGTTCCCCATCAGCTGTAGGTTGAAGCCCTCCCTCTGCAGCTGTAGTTACAGCCCTGCAATCCAGCCCCACCTACCCTTCTCACTTACCTCTTGCACTAACTCCTCTGTCAGCAATTGGCATCTCCCCCTGGTTCCCAGTCCTATTGGTCATTCCCGTCTCCCAGCCTCCGCATGTGTTTCCAGTCCCTCAATGTTCTCCTCCTCCTGCCCCACCAAATGGAATCTTCCCCATTCTTAAAGACACAGCCTCTTCTTTGAAACCCTCCCTGACCTTCTGGAAGCCAGGGACTATGGTGTACTTCTCTGGTCCTCTTTAGGCCCTAAAGCAGGCAGGACTCATTCAAATGTGTTG
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GCCAACGGGAAAAGGAAGCTGCTTCTTCTCTTCTCCTATTTGGCTTCAGAAATGCATGGGATATTTGGGAATCAAAACAGGGGCCCTTCGGTTAGAAACTGAATCCTGTCAGATTCTTCCATGTTTCCATGTCTAGGATTAATTGAATCCCTGTTACGCCAAAAGTCAGCTTTCATTTTGGATCAGATCACCTCACATGTGAGTTTAAAAACAGAGGGAAGATCAGGTTTAAGAAAATGATTCATGATTTATCAATAATTTTCAGACATTTGGGAAGTAACTAGAAAAGATGCATGTGTCCCGATGGAAGTAAACTTCTCTATCTGTATTTATTGGCAAAGATAGCAATGAAAGAGGAGCCAGTCAGATAACTACCCACAGCGAGAGGCCTGCAGGGAGCAGGGGTAGAGTGAGTTGGGTTCCACCAACTCCCTTTGGCTAATATATTCACCCCCACTAAAAAATATATTGCCAAGATGGAAAATAAACTATACATAGACATTTAGTCTAATCTCATCCTTTTCTTCTTATAGCTTAGGGTCTATGAATAAAGGATGGATGATATAGGATGGTACAGAGAGACCATTACAGTTCCCCACAATGACAAAAGCCACCAAAGGCATGGCTGGGCCAATTAAAACTACTCAGGGAAGCAAGTAGGGTACGTTTCCAAATTAGTGGGAGCTACCCTACCATATAATCCCAATTCTGTGTCTTAAGCCTATAGTTTCTTTCTAGCGTCCAGCTCAGTTTTACCTTCTGGATGTCAGACTGTGCCTCACTTGGACACAGTTGTAACTTGATGTCTCATAAATGTGCTCATGGAAAATTCTATGATATCTTTCCCCTGCCATGGTATGATATCTCTACCCTGCCATGACTCCTTTTGTCACCATGAGGAAGTCACCTGCGTGGTCACTTGCAGGTGAAGCTGGATCTGTTGAGATGGACTCAGCCATGACCTGGCTTCACCCCTGCCTGTCCCTTTTCTGTAAACCCAGTAGGGCTGGCTATGGAGGCCAAAGAATCAAATTCATCCTGTCTGAGCCAGTGAAGCGTGCTCAGGACTCGTCCTGCCCACTGGGCATTGGGCCATGCTGAGGATGGCTTTCAGGAGAGAGGAAGAGGCCCCAGTCAAGCAGATGCTGGACAGATGTCAGCAGCACCTAACTCCACTTATAAACCAGGGCAGAGGCTTCCTCTGGGCACCTCTATTGTGTGTGCTGAAGTTTTACTGTTCAAGCTTTTCCTGCAGCCAGGAAAGAGGCAGATGAGTGAGAGCTCATCCTCTCTGTCCTGCCCATAGGGGACCAGTCTGTTTAAACACATTTTATTACAGAGAGCAGCAGTCACCCTCCAGAATCCAAGGGCACACGCCAGTTTTCCCTCTATGCTCCTTGGTCTGGCAAAGCCAAATATCAGCCTACAAATAGCCAATGCAGGTTAGGCTACCCCAAAGGCCCATGCATGAGCCCCTATCTAGAAACTCAACCCAGAGGAAGGATTCTTCATTCATCACAGGGGTTCTTAACCTGGGATTCAAGAGCTCCTGCAGGATCATAAATGTGACCTGGGGCTCAGTAAACTCCCTGAAACGTTTTGTAAAAATGTGTGGAGGGAGGTAATGGGAAGCAATGGTGCATTTTTATAGGAATAGGCTACAAATATTCATCAGATGCTTAAAAGGTTCCGTGACCTCTAAGAGATTAAGAACCACACACTTAGTGCTTCCCAGGTCTTTCCAAGAATCCATCCCAACAGAGGAATCTCTTAACTATCACAATTCAGTTCACTTTTCCATTGGGTCTATGTGTTGGGCTTTTTGGGCCATGCTCTCTGGGAGGCCTCCTTCTCTGTACAGATCTTTCAGGGCCTCAGAGCCACCCTACTATAGGGTCTGATGATCACCCTTCCTATTCTTCTCACAGGACCTGTGAGAGACTCCCTGAGACAGGAGGAGCAGGATACTCACCTCTTGCCTGCTACGGTGGCATCCCCTGAGGTCACTGTGGTGTCCCCAGTGAGCATCTTGAATGTGGTTGTTTTGCTGGCACCATTCACTCCCAGGAGGCCAAAGCACTAGGAGAAAACACAGAGCTAGCCTGGCCCTAGAGATCAAGAAGGTCTAAAATGTCAGGCCCCAGGGTAAGTGTGTGTGTGAGCTGGGGGAGGAATTTTAGACCTGGGCTGCCATCAGAGGCCACGAGCCATATGTGGCTACTAAGCACTTGAAACACATCTAAGTCCCAGTTGACACGGGCCCTGAGTGTAAAGATTCAAAGACTTAAAAACAACGAGAAATTGTCAAATATTTCATTAATAAGGTTTTCTATTAATTACATTTTGAAATAATATTTTGGTTATATTGAGTAAAATAAAAAATACTAATGAAATTAATTTTACCTATTTTCTTTTTACTTTTCTCATGTGGCTAGTGGAAGATTTAAAATTACATATGTGACTTGCATTATGGCATTATGTTCCTATTGAATAGCTCTGCCTTATGGGGAGGAGAGGCAGGCACAAGAGCTGATGTTCGGAAGCCTTTCACACGTGGTCTGCAGAGTACCCACCTCTCCAGGGCGAACTCCGACACACAGCCTGTCCACTGCTGGGCTGGAGGTGCCTGGATAAATCTGCAAGATACGAAGAAACCGGACTGAGAACTGAGACAGGGTGAGAGCAAGGAGGGGAAGAGGGAACAAAGAGCAAAGGATGGTTTAGGAGAAAACTACCAGCACTAGGAGGTTACATATTGACATGGGCAGGCACAGAGGTGTGGTGAGTACTGAGACATCTCGAGGCTGACCCATGCTCTGCAGAAACAGAACACAGAAAAGGGAATGATGCTCAGCTGGAGTGATTCTCACTGAGGCCCTGTGTCAGTGCCCGAGATGAATAGCAGGGAACACACATTGGAATTAGATGCTCTTGGAAGACGAGTTATAACACAGGGATGATGACCCTACATAAAACTGGGAACCAAATTGCTTGCATAAGCATATCAATTGTTCTATAGAAGGAAAATGGCAACATCATGCCAACTGTGGATCTAACCAGCACCTCCAAACTCATACCCATTCCCTTACCTTGGTTAGTTCATGTAGCCTTAAGATGTCAGTTTTATTTCCACCAGTAATAATTCTTTGTCTTTCTTCAGCCACATCATCATCTTCATCAACAATGGGCTCCTTAGTGGGCTCGGCAATCCTAGATGAAGAAAAGGGGTCAGGATTGGGCTGGCTGTACAGTGTCCTTGGCACTGTCCTTTCCATGGGACCTCTCTTCCACTTCCTTGCTTCTGCTTCCTTCTGGGCTTCCATCCTTTAAGACTTAAATTCTAAAAAGGGCTCCCAGCAGGAGAGGCATTAGGCATTAGGTAGAGAGGTCAGGTGCTCATGTCCAGAGTCAGCCTTGGGTTCCAGTCCTGGCCTCCTCATGTGTGATCTTGGGCATTGGACCTCTCTGAACCTTGCCTACTTCAACCATGTGATGAGGAGGAGGGTAACAATACCTGTCTCATAGGATTGTGCTGAAGATGAACTCAGCACAGTGCCTGGCACAGAGTAAAGACTCAGGGCCTGGGATCACCGTCAGGACTAAAATGCTTCCTCTACAGCAAGCACTCAGTAAGGGGTAGTTACTAACCTCCGAGCCTCCCACTTCCTCCAGTCTGCCCTGCCAACTCCACCTTTCCAAAACAGAGTTGTCATCAGGCCACCTCATGCCTCAAAACCTTCTGTTGTTCCCCATCAGCTGTAGGTTGAAGCCCTCCCTCTGCAGCTGTAGTTACAGCCCTGCAATCCAGCCCCACCTACCCTTCTCACTTACCTCTTGCACTAACTCCTCTGTCAGCAATTGGCATCTCCCCCTGGTTCCCAGTCCTATTGGTCATTCCCGTCTCCCAGCCTCCGCATGTGTTTCCAGTCCCTCAATGTTCTCCTCCTCCTGCCCCACCAAATGGAATCTTCCCCATTCTTAAAGACACAGCCTCTTCTTTGAAACCCTCCCTGACCTTCTGGAAGCCAGGGACTATGGTGTACTTCTCTGGTCCTCTTTAGGCCCTAAAGCAGGCAGGACTCATTCAAATGTGTTG
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Task1_train_1133
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A variant has been detected on Chromosome 1 in ABCA4 (ATP binding cassette subfamily A member 4). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Stargardt disease
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GCCAACGGGAAAAGGAAGCTGCTTCTTCTCTTCTCCTATTTGGCTTCAGAAATGCATGGGATATTTGGGAATCAAAACAGGGGCCCTTCGGTTAGAAACTGAATCCTGTCAGATTCTTCCATGTTTCCATGTCTAGGATTAATTGAATCCCTGTTACGCCAAAAGTCAGCTTTCATTTTGGATCAGATCACCTCACATGTGAGTTTAAAAACAGAGGGAAGATCAGGTTTAAGAAAATGATTCATGATTTATCAATAATTTTCAGACATTTGGGAAGTAACTAGAAAAGATGCATGTGTCCCGATGGAAGTAAACTTCTCTATCTGTATTTATTGGCAAAGATAGCAATGAAAGAGGAGCCAGTCAGATAACTACCCACAGCGAGAGGCCTGCAGGGAGCAGGGGTAGAGTGAGTTGGGTTCCACCAACTCCCTTTGGCTAATATATTCACCCCCACTAAAAAATATATTGCCAAGATGGAAAATAAACTATACATAGACATTTAGTCTAATCTCATCCTTTTCTTCTTATAGCTTAGGGTCTATGAATAAAGGATGGATGATATAGGATGGTACAGAGAGACCATTACAGTTCCCCACAATGACAAAAGCCACCAAAGGCATGGCTGGGCCAATTAAAACTACTCAGGGAAGCAAGTAGGGTACGTTTCCAAATTAGTGGGAGCTACCCTACCATATAATCCCAATTCTGTGTCTTAAGCCTATAGTTTCTTTCTAGCGTCCAGCTCAGTTTTACCTTCTGGATGTCAGACTGTGCCTCACTTGGACACAGTTGTAACTTGATGTCTCATAAATGTGCTCATGGAAAATTCTATGATATCTTTCCCCTGCCATGGTATGATATCTCTACCCTGCCATGACTCCTTTTGTCACCATGAGGAAGTCACCTGCGTGGTCACTTGCAGGTGAAGCTGGATCTGTTGAGATGGACTCAGCCATGACCTGGCTTCACCCCTGCCTGTCCCTTTTCTGTAAACCCAGTAGGGCTGGCTATGGAGGCCAAAGAATCAAATTCATCCTGTCTGAGCCAGTGAAGCGTGCTCAGGACTCGTCCTGCCCACTGGGCATTGGGCCATGCTGAGGATGGCTTTCAGGAGAGAGGAAGAGGCCCCAGTCAAGCAGATGCTGGACAGATGTCAGCAGCACCTAACTCCACTTATAAACCAGGGCAGAGGCTTCCTCTGGGCACCTCTATTGTGTGTGCTGAAGTTTTACTGTTCAAGCTTTTCCTGCAGCCAGGAAAGAGGCAGATGAGTGAGAGCTCATCCTCTCTGTCCTGCCCATAGGGGACCAGTCTGTTTAAACACATTTTATTACAGAGAGCAGCAGTCACCCTCCAGAATCCAAGGGCACACGCCAGTTTTCCCTCTATGCTCCTTGGTCTGGCAAAGCCAAATATCAGCCTACAAATAGCCAATGCAGGTTAGGCTACCCCAAAGGCCCATGCATGAGCCCCTATCTAGAAACTCAACCCAGAGGAAGGATTCTTCATTCATCACAGGGGTTCTTAACCTGGGATTCAAGAGCTCCTGCAGGATCATAAATGTGACCTGGGGCTCAGTAAACTCCCTGAAACGTTTTGTAAAAATGTGTGGAGGGAGGTAATGGGAAGCAATGGTGCATTTTTATAGGAATAGGCTACAAATATTCATCAGATGCTTAAAAGGTTCCGTGACCTCTAAGAGATTAAGAACCACACACTTAGTGCTTCCCAGGTCTTTCCAAGAATCCATCCCAACAGAGGAATCTCTTAACTATCACAATTCAGTTCACTTTTCCATTGGGTCTATGTGTTGGGCTTTTTGGGCCATGCTCTCTGGGAGGCCTCCTTCTCTGTACAGATCTTTCAGGGCCTCAGAGCCACCCTACTATAGGGTCTGATGATCACCCTTCCTATTCTTCTCACAGGACCTGTGAGAGACTCCCTGAGACAGGAGGAGCAGGATACTCACCTCTTGCCTGCTACGGTGGCATCCCCTGAGGTCACTGTGGTGTCCCCAGTGAGCATCTTGAATGTGGTTGTTTTGCCGGCACCATTCACTCCCAGGAGGCCAAAGCACTAGGAGAAAACACAGAGCTAGCCTGGCCCTAGAGATCAAGAAGGTCTAAAATGTCAGGCCCCAGGGTAAGTGTGTGTGTGAGCTGGGGGAGGAATTTTAGACCTGGGCTGCCATCAGAGGCCACGAGCCATATGTGGCTACTAAGCACTTGAAACACATCTAAGTCCCAGTTGACACGGGCCCTGAGTGTAAAGATTCAAAGACTTAAAAACAACGAGAAATTGTCAAATATTTCATTAATAAGGTTTTCTATTAATTACATTTTGAAATAATATTTTGGTTATATTGAGTAAAATAAAAAATACTAATGAAATTAATTTTACCTATTTTCTTTTTACTTTTCTCATGTGGCTAGTGGAAGATTTAAAATTACATATGTGACTTGCATTATGGCATTATGTTCCTATTGAATAGCTCTGCCTTATGGGGAGGAGAGGCAGGCACAAGAGCTGATGTTCGGAAGCCTTTCACACGTGGTCTGCAGAGTACCCACCTCTCCAGGGCGAACTCCGACACACAGCCTGTCCACTGCTGGGCTGGAGGTGCCTGGATAAATCTGCAAGATACGAAGAAACCGGACTGAGAACTGAGACAGGGTGAGAGCAAGGAGGGGAAGAGGGAACAAAGAGCAAAGGATGGTTTAGGAGAAAACTACCAGCACTAGGAGGTTACATATTGACATGGGCAGGCACAGAGGTGTGGTGAGTACTGAGACATCTCGAGGCTGACCCATGCTCTGCAGAAACAGAACACAGAAAAGGGAATGATGCTCAGCTGGAGTGATTCTCACTGAGGCCCTGTGTCAGTGCCCGAGATGAATAGCAGGGAACACACATTGGAATTAGATGCTCTTGGAAGACGAGTTATAACACAGGGATGATGACCCTACATAAAACTGGGAACCAAATTGCTTGCATAAGCATATCAATTGTTCTATAGAAGGAAAATGGCAACATCATGCCAACTGTGGATCTAACCAGCACCTCCAAACTCATACCCATTCCCTTACCTTGGTTAGTTCATGTAGCCTTAAGATGTCAGTTTTATTTCCACCAGTAATAATTCTTTGTCTTTCTTCAGCCACATCATCATCTTCATCAACAATGGGCTCCTTAGTGGGCTCGGCAATCCTAGATGAAGAAAAGGGGTCAGGATTGGGCTGGCTGTACAGTGTCCTTGGCACTGTCCTTTCCATGGGACCTCTCTTCCACTTCCTTGCTTCTGCTTCCTTCTGGGCTTCCATCCTTTAAGACTTAAATTCTAAAAAGGGCTCCCAGCAGGAGAGGCATTAGGCATTAGGTAGAGAGGTCAGGTGCTCATGTCCAGAGTCAGCCTTGGGTTCCAGTCCTGGCCTCCTCATGTGTGATCTTGGGCATTGGACCTCTCTGAACCTTGCCTACTTCAACCATGTGATGAGGAGGAGGGTAACAATACCTGTCTCATAGGATTGTGCTGAAGATGAACTCAGCACAGTGCCTGGCACAGAGTAAAGACTCAGGGCCTGGGATCACCGTCAGGACTAAAATGCTTCCTCTACAGCAAGCACTCAGTAAGGGGTAGTTACTAACCTCCGAGCCTCCCACTTCCTCCAGTCTGCCCTGCCAACTCCACCTTTCCAAAACAGAGTTGTCATCAGGCCACCTCATGCCTCAAAACCTTCTGTTGTTCCCCATCAGCTGTAGGTTGAAGCCCTCCCTCTGCAGCTGTAGTTACAGCCCTGCAATCCAGCCCCACCTACCCTTCTCACTTACCTCTTGCACTAACTCCTCTGTCAGCAATTGGCATCTCCCCCTGGTTCCCAGTCCTATTGGTCATTCCCGTCTCCCAGCCTCCGCATGTGTTTCCAGTCCCTCAATGTTCTCCTCCTCCTGCCCCACCAAATGGAATCTTCCCCATTCTTAAAGACACAGCCTCTTCTTTGAAACCCTCCCTGACCTTCTGGAAGCCAGGGACTATGGTGTACTTCTCTGGTCCTCTTTAGGCCCTAAAGCAGGCAGGACTCATTCAAATGTGTTG
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GCCAACGGGAAAAGGAAGCTGCTTCTTCTCTTCTCCTATTTGGCTTCAGAAATGCATGGGATATTTGGGAATCAAAACAGGGGCCCTTCGGTTAGAAACTGAATCCTGTCAGATTCTTCCATGTTTCCATGTCTAGGATTAATTGAATCCCTGTTACGCCAAAAGTCAGCTTTCATTTTGGATCAGATCACCTCACATGTGAGTTTAAAAACAGAGGGAAGATCAGGTTTAAGAAAATGATTCATGATTTATCAATAATTTTCAGACATTTGGGAAGTAACTAGAAAAGATGCATGTGTCCCGATGGAAGTAAACTTCTCTATCTGTATTTATTGGCAAAGATAGCAATGAAAGAGGAGCCAGTCAGATAACTACCCACAGCGAGAGGCCTGCAGGGAGCAGGGGTAGAGTGAGTTGGGTTCCACCAACTCCCTTTGGCTAATATATTCACCCCCACTAAAAAATATATTGCCAAGATGGAAAATAAACTATACATAGACATTTAGTCTAATCTCATCCTTTTCTTCTTATAGCTTAGGGTCTATGAATAAAGGATGGATGATATAGGATGGTACAGAGAGACCATTACAGTTCCCCACAATGACAAAAGCCACCAAAGGCATGGCTGGGCCAATTAAAACTACTCAGGGAAGCAAGTAGGGTACGTTTCCAAATTAGTGGGAGCTACCCTACCATATAATCCCAATTCTGTGTCTTAAGCCTATAGTTTCTTTCTAGCGTCCAGCTCAGTTTTACCTTCTGGATGTCAGACTGTGCCTCACTTGGACACAGTTGTAACTTGATGTCTCATAAATGTGCTCATGGAAAATTCTATGATATCTTTCCCCTGCCATGGTATGATATCTCTACCCTGCCATGACTCCTTTTGTCACCATGAGGAAGTCACCTGCGTGGTCACTTGCAGGTGAAGCTGGATCTGTTGAGATGGACTCAGCCATGACCTGGCTTCACCCCTGCCTGTCCCTTTTCTGTAAACCCAGTAGGGCTGGCTATGGAGGCCAAAGAATCAAATTCATCCTGTCTGAGCCAGTGAAGCGTGCTCAGGACTCGTCCTGCCCACTGGGCATTGGGCCATGCTGAGGATGGCTTTCAGGAGAGAGGAAGAGGCCCCAGTCAAGCAGATGCTGGACAGATGTCAGCAGCACCTAACTCCACTTATAAACCAGGGCAGAGGCTTCCTCTGGGCACCTCTATTGTGTGTGCTGAAGTTTTACTGTTCAAGCTTTTCCTGCAGCCAGGAAAGAGGCAGATGAGTGAGAGCTCATCCTCTCTGTCCTGCCCATAGGGGACCAGTCTGTTTAAACACATTTTATTACAGAGAGCAGCAGTCACCCTCCAGAATCCAAGGGCACACGCCAGTTTTCCCTCTATGCTCCTTGGTCTGGCAAAGCCAAATATCAGCCTACAAATAGCCAATGCAGGTTAGGCTACCCCAAAGGCCCATGCATGAGCCCCTATCTAGAAACTCAACCCAGAGGAAGGATTCTTCATTCATCACAGGGGTTCTTAACCTGGGATTCAAGAGCTCCTGCAGGATCATAAATGTGACCTGGGGCTCAGTAAACTCCCTGAAACGTTTTGTAAAAATGTGTGGAGGGAGGTAATGGGAAGCAATGGTGCATTTTTATAGGAATAGGCTACAAATATTCATCAGATGCTTAAAAGGTTCCGTGACCTCTAAGAGATTAAGAACCACACACTTAGTGCTTCCCAGGTCTTTCCAAGAATCCATCCCAACAGAGGAATCTCTTAACTATCACAATTCAGTTCACTTTTCCATTGGGTCTATGTGTTGGGCTTTTTGGGCCATGCTCTCTGGGAGGCCTCCTTCTCTGTACAGATCTTTCAGGGCCTCAGAGCCACCCTACTATAGGGTCTGATGATCACCCTTCCTATTCTTCTCACAGGACCTGTGAGAGACTCCCTGAGACAGGAGGAGCAGGATACTCACCTCTTGCCTGCTACGGTGGCATCCCCTGAGGTCACTGTGGTGTCCCCAGTGAGCATCTTGAATGTGGTTGTTTTGCTGGCACCATTCACTCCCAGGAGGCCAAAGCACTAGGAGAAAACACAGAGCTAGCCTGGCCCTAGAGATCAAGAAGGTCTAAAATGTCAGGCCCCAGGGTAAGTGTGTGTGTGAGCTGGGGGAGGAATTTTAGACCTGGGCTGCCATCAGAGGCCACGAGCCATATGTGGCTACTAAGCACTTGAAACACATCTAAGTCCCAGTTGACACGGGCCCTGAGTGTAAAGATTCAAAGACTTAAAAACAACGAGAAATTGTCAAATATTTCATTAATAAGGTTTTCTATTAATTACATTTTGAAATAATATTTTGGTTATATTGAGTAAAATAAAAAATACTAATGAAATTAATTTTACCTATTTTCTTTTTACTTTTCTCATGTGGCTAGTGGAAGATTTAAAATTACATATGTGACTTGCATTATGGCATTATGTTCCTATTGAATAGCTCTGCCTTATGGGGAGGAGAGGCAGGCACAAGAGCTGATGTTCGGAAGCCTTTCACACGTGGTCTGCAGAGTACCCACCTCTCCAGGGCGAACTCCGACACACAGCCTGTCCACTGCTGGGCTGGAGGTGCCTGGATAAATCTGCAAGATACGAAGAAACCGGACTGAGAACTGAGACAGGGTGAGAGCAAGGAGGGGAAGAGGGAACAAAGAGCAAAGGATGGTTTAGGAGAAAACTACCAGCACTAGGAGGTTACATATTGACATGGGCAGGCACAGAGGTGTGGTGAGTACTGAGACATCTCGAGGCTGACCCATGCTCTGCAGAAACAGAACACAGAAAAGGGAATGATGCTCAGCTGGAGTGATTCTCACTGAGGCCCTGTGTCAGTGCCCGAGATGAATAGCAGGGAACACACATTGGAATTAGATGCTCTTGGAAGACGAGTTATAACACAGGGATGATGACCCTACATAAAACTGGGAACCAAATTGCTTGCATAAGCATATCAATTGTTCTATAGAAGGAAAATGGCAACATCATGCCAACTGTGGATCTAACCAGCACCTCCAAACTCATACCCATTCCCTTACCTTGGTTAGTTCATGTAGCCTTAAGATGTCAGTTTTATTTCCACCAGTAATAATTCTTTGTCTTTCTTCAGCCACATCATCATCTTCATCAACAATGGGCTCCTTAGTGGGCTCGGCAATCCTAGATGAAGAAAAGGGGTCAGGATTGGGCTGGCTGTACAGTGTCCTTGGCACTGTCCTTTCCATGGGACCTCTCTTCCACTTCCTTGCTTCTGCTTCCTTCTGGGCTTCCATCCTTTAAGACTTAAATTCTAAAAAGGGCTCCCAGCAGGAGAGGCATTAGGCATTAGGTAGAGAGGTCAGGTGCTCATGTCCAGAGTCAGCCTTGGGTTCCAGTCCTGGCCTCCTCATGTGTGATCTTGGGCATTGGACCTCTCTGAACCTTGCCTACTTCAACCATGTGATGAGGAGGAGGGTAACAATACCTGTCTCATAGGATTGTGCTGAAGATGAACTCAGCACAGTGCCTGGCACAGAGTAAAGACTCAGGGCCTGGGATCACCGTCAGGACTAAAATGCTTCCTCTACAGCAAGCACTCAGTAAGGGGTAGTTACTAACCTCCGAGCCTCCCACTTCCTCCAGTCTGCCCTGCCAACTCCACCTTTCCAAAACAGAGTTGTCATCAGGCCACCTCATGCCTCAAAACCTTCTGTTGTTCCCCATCAGCTGTAGGTTGAAGCCCTCCCTCTGCAGCTGTAGTTACAGCCCTGCAATCCAGCCCCACCTACCCTTCTCACTTACCTCTTGCACTAACTCCTCTGTCAGCAATTGGCATCTCCCCCTGGTTCCCAGTCCTATTGGTCATTCCCGTCTCCCAGCCTCCGCATGTGTTTCCAGTCCCTCAATGTTCTCCTCCTCCTGCCCCACCAAATGGAATCTTCCCCATTCTTAAAGACACAGCCTCTTCTTTGAAACCCTCCCTGACCTTCTGGAAGCCAGGGACTATGGTGTACTTCTCTGGTCCTCTTTAGGCCCTAAAGCAGGCAGGACTCATTCAAATGTGTTG
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Task1_train_1134
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A sequence alteration has been identified in ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Is it disease-inducing or harmless?
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Pathogenic; Severe early-childhood-onset retinal dystrophy
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GCCAACGGGAAAAGGAAGCTGCTTCTTCTCTTCTCCTATTTGGCTTCAGAAATGCATGGGATATTTGGGAATCAAAACAGGGGCCCTTCGGTTAGAAACTGAATCCTGTCAGATTCTTCCATGTTTCCATGTCTAGGATTAATTGAATCCCTGTTACGCCAAAAGTCAGCTTTCATTTTGGATCAGATCACCTCACATGTGAGTTTAAAAACAGAGGGAAGATCAGGTTTAAGAAAATGATTCATGATTTATCAATAATTTTCAGACATTTGGGAAGTAACTAGAAAAGATGCATGTGTCCCGATGGAAGTAAACTTCTCTATCTGTATTTATTGGCAAAGATAGCAATGAAAGAGGAGCCAGTCAGATAACTACCCACAGCGAGAGGCCTGCAGGGAGCAGGGGTAGAGTGAGTTGGGTTCCACCAACTCCCTTTGGCTAATATATTCACCCCCACTAAAAAATATATTGCCAAGATGGAAAATAAACTATACATAGACATTTAGTCTAATCTCATCCTTTTCTTCTTATAGCTTAGGGTCTATGAATAAAGGATGGATGATATAGGATGGTACAGAGAGACCATTACAGTTCCCCACAATGACAAAAGCCACCAAAGGCATGGCTGGGCCAATTAAAACTACTCAGGGAAGCAAGTAGGGTACGTTTCCAAATTAGTGGGAGCTACCCTACCATATAATCCCAATTCTGTGTCTTAAGCCTATAGTTTCTTTCTAGCGTCCAGCTCAGTTTTACCTTCTGGATGTCAGACTGTGCCTCACTTGGACACAGTTGTAACTTGATGTCTCATAAATGTGCTCATGGAAAATTCTATGATATCTTTCCCCTGCCATGGTATGATATCTCTACCCTGCCATGACTCCTTTTGTCACCATGAGGAAGTCACCTGCGTGGTCACTTGCAGGTGAAGCTGGATCTGTTGAGATGGACTCAGCCATGACCTGGCTTCACCCCTGCCTGTCCCTTTTCTGTAAACCCAGTAGGGCTGGCTATGGAGGCCAAAGAATCAAATTCATCCTGTCTGAGCCAGTGAAGCGTGCTCAGGACTCGTCCTGCCCACTGGGCATTGGGCCATGCTGAGGATGGCTTTCAGGAGAGAGGAAGAGGCCCCAGTCAAGCAGATGCTGGACAGATGTCAGCAGCACCTAACTCCACTTATAAACCAGGGCAGAGGCTTCCTCTGGGCACCTCTATTGTGTGTGCTGAAGTTTTACTGTTCAAGCTTTTCCTGCAGCCAGGAAAGAGGCAGATGAGTGAGAGCTCATCCTCTCTGTCCTGCCCATAGGGGACCAGTCTGTTTAAACACATTTTATTACAGAGAGCAGCAGTCACCCTCCAGAATCCAAGGGCACACGCCAGTTTTCCCTCTATGCTCCTTGGTCTGGCAAAGCCAAATATCAGCCTACAAATAGCCAATGCAGGTTAGGCTACCCCAAAGGCCCATGCATGAGCCCCTATCTAGAAACTCAACCCAGAGGAAGGATTCTTCATTCATCACAGGGGTTCTTAACCTGGGATTCAAGAGCTCCTGCAGGATCATAAATGTGACCTGGGGCTCAGTAAACTCCCTGAAACGTTTTGTAAAAATGTGTGGAGGGAGGTAATGGGAAGCAATGGTGCATTTTTATAGGAATAGGCTACAAATATTCATCAGATGCTTAAAAGGTTCCGTGACCTCTAAGAGATTAAGAACCACACACTTAGTGCTTCCCAGGTCTTTCCAAGAATCCATCCCAACAGAGGAATCTCTTAACTATCACAATTCAGTTCACTTTTCCATTGGGTCTATGTGTTGGGCTTTTTGGGCCATGCTCTCTGGGAGGCCTCCTTCTCTGTACAGATCTTTCAGGGCCTCAGAGCCACCCTACTATAGGGTCTGATGATCACCCTTCCTATTCTTCTCACAGGACCTGTGAGAGACTCCCTGAGACAGGAGGAGCAGGATACTCACCTCTTGCCTGCTACGGTGGCATCCCCTGAGGTCACTGTGGTGTCCCCAGTGAGCATCTTGAATGTGGTTGTTTTGCCGGCACCATTCACTCCCAGGAGGCCAAAGCACTAGGAGAAAACACAGAGCTAGCCTGGCCCTAGAGATCAAGAAGGTCTAAAATGTCAGGCCCCAGGGTAAGTGTGTGTGTGAGCTGGGGGAGGAATTTTAGACCTGGGCTGCCATCAGAGGCCACGAGCCATATGTGGCTACTAAGCACTTGAAACACATCTAAGTCCCAGTTGACACGGGCCCTGAGTGTAAAGATTCAAAGACTTAAAAACAACGAGAAATTGTCAAATATTTCATTAATAAGGTTTTCTATTAATTACATTTTGAAATAATATTTTGGTTATATTGAGTAAAATAAAAAATACTAATGAAATTAATTTTACCTATTTTCTTTTTACTTTTCTCATGTGGCTAGTGGAAGATTTAAAATTACATATGTGACTTGCATTATGGCATTATGTTCCTATTGAATAGCTCTGCCTTATGGGGAGGAGAGGCAGGCACAAGAGCTGATGTTCGGAAGCCTTTCACACGTGGTCTGCAGAGTACCCACCTCTCCAGGGCGAACTCCGACACACAGCCTGTCCACTGCTGGGCTGGAGGTGCCTGGATAAATCTGCAAGATACGAAGAAACCGGACTGAGAACTGAGACAGGGTGAGAGCAAGGAGGGGAAGAGGGAACAAAGAGCAAAGGATGGTTTAGGAGAAAACTACCAGCACTAGGAGGTTACATATTGACATGGGCAGGCACAGAGGTGTGGTGAGTACTGAGACATCTCGAGGCTGACCCATGCTCTGCAGAAACAGAACACAGAAAAGGGAATGATGCTCAGCTGGAGTGATTCTCACTGAGGCCCTGTGTCAGTGCCCGAGATGAATAGCAGGGAACACACATTGGAATTAGATGCTCTTGGAAGACGAGTTATAACACAGGGATGATGACCCTACATAAAACTGGGAACCAAATTGCTTGCATAAGCATATCAATTGTTCTATAGAAGGAAAATGGCAACATCATGCCAACTGTGGATCTAACCAGCACCTCCAAACTCATACCCATTCCCTTACCTTGGTTAGTTCATGTAGCCTTAAGATGTCAGTTTTATTTCCACCAGTAATAATTCTTTGTCTTTCTTCAGCCACATCATCATCTTCATCAACAATGGGCTCCTTAGTGGGCTCGGCAATCCTAGATGAAGAAAAGGGGTCAGGATTGGGCTGGCTGTACAGTGTCCTTGGCACTGTCCTTTCCATGGGACCTCTCTTCCACTTCCTTGCTTCTGCTTCCTTCTGGGCTTCCATCCTTTAAGACTTAAATTCTAAAAAGGGCTCCCAGCAGGAGAGGCATTAGGCATTAGGTAGAGAGGTCAGGTGCTCATGTCCAGAGTCAGCCTTGGGTTCCAGTCCTGGCCTCCTCATGTGTGATCTTGGGCATTGGACCTCTCTGAACCTTGCCTACTTCAACCATGTGATGAGGAGGAGGGTAACAATACCTGTCTCATAGGATTGTGCTGAAGATGAACTCAGCACAGTGCCTGGCACAGAGTAAAGACTCAGGGCCTGGGATCACCGTCAGGACTAAAATGCTTCCTCTACAGCAAGCACTCAGTAAGGGGTAGTTACTAACCTCCGAGCCTCCCACTTCCTCCAGTCTGCCCTGCCAACTCCACCTTTCCAAAACAGAGTTGTCATCAGGCCACCTCATGCCTCAAAACCTTCTGTTGTTCCCCATCAGCTGTAGGTTGAAGCCCTCCCTCTGCAGCTGTAGTTACAGCCCTGCAATCCAGCCCCACCTACCCTTCTCACTTACCTCTTGCACTAACTCCTCTGTCAGCAATTGGCATCTCCCCCTGGTTCCCAGTCCTATTGGTCATTCCCGTCTCCCAGCCTCCGCATGTGTTTCCAGTCCCTCAATGTTCTCCTCCTCCTGCCCCACCAAATGGAATCTTCCCCATTCTTAAAGACACAGCCTCTTCTTTGAAACCCTCCCTGACCTTCTGGAAGCCAGGGACTATGGTGTACTTCTCTGGTCCTCTTTAGGCCCTAAAGCAGGCAGGACTCATTCAAATGTGTTG
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GCCAACGGGAAAAGGAAGCTGCTTCTTCTCTTCTCCTATTTGGCTTCAGAAATGCATGGGATATTTGGGAATCAAAACAGGGGCCCTTCGGTTAGAAACTGAATCCTGTCAGATTCTTCCATGTTTCCATGTCTAGGATTAATTGAATCCCTGTTACGCCAAAAGTCAGCTTTCATTTTGGATCAGATCACCTCACATGTGAGTTTAAAAACAGAGGGAAGATCAGGTTTAAGAAAATGATTCATGATTTATCAATAATTTTCAGACATTTGGGAAGTAACTAGAAAAGATGCATGTGTCCCGATGGAAGTAAACTTCTCTATCTGTATTTATTGGCAAAGATAGCAATGAAAGAGGAGCCAGTCAGATAACTACCCACAGCGAGAGGCCTGCAGGGAGCAGGGGTAGAGTGAGTTGGGTTCCACCAACTCCCTTTGGCTAATATATTCACCCCCACTAAAAAATATATTGCCAAGATGGAAAATAAACTATACATAGACATTTAGTCTAATCTCATCCTTTTCTTCTTATAGCTTAGGGTCTATGAATAAAGGATGGATGATATAGGATGGTACAGAGAGACCATTACAGTTCCCCACAATGACAAAAGCCACCAAAGGCATGGCTGGGCCAATTAAAACTACTCAGGGAAGCAAGTAGGGTACGTTTCCAAATTAGTGGGAGCTACCCTACCATATAATCCCAATTCTGTGTCTTAAGCCTATAGTTTCTTTCTAGCGTCCAGCTCAGTTTTACCTTCTGGATGTCAGACTGTGCCTCACTTGGACACAGTTGTAACTTGATGTCTCATAAATGTGCTCATGGAAAATTCTATGATATCTTTCCCCTGCCATGGTATGATATCTCTACCCTGCCATGACTCCTTTTGTCACCATGAGGAAGTCACCTGCGTGGTCACTTGCAGGTGAAGCTGGATCTGTTGAGATGGACTCAGCCATGACCTGGCTTCACCCCTGCCTGTCCCTTTTCTGTAAACCCAGTAGGGCTGGCTATGGAGGCCAAAGAATCAAATTCATCCTGTCTGAGCCAGTGAAGCGTGCTCAGGACTCGTCCTGCCCACTGGGCATTGGGCCATGCTGAGGATGGCTTTCAGGAGAGAGGAAGAGGCCCCAGTCAAGCAGATGCTGGACAGATGTCAGCAGCACCTAACTCCACTTATAAACCAGGGCAGAGGCTTCCTCTGGGCACCTCTATTGTGTGTGCTGAAGTTTTACTGTTCAAGCTTTTCCTGCAGCCAGGAAAGAGGCAGATGAGTGAGAGCTCATCCTCTCTGTCCTGCCCATAGGGGACCAGTCTGTTTAAACACATTTTATTACAGAGAGCAGCAGTCACCCTCCAGAATCCAAGGGCACACGCCAGTTTTCCCTCTATGCTCCTTGGTCTGGCAAAGCCAAATATCAGCCTACAAATAGCCAATGCAGGTTAGGCTACCCCAAAGGCCCATGCATGAGCCCCTATCTAGAAACTCAACCCAGAGGAAGGATTCTTCATTCATCACAGGGGTTCTTAACCTGGGATTCAAGAGCTCCTGCAGGATCATAAATGTGACCTGGGGCTCAGTAAACTCCCTGAAACGTTTTGTAAAAATGTGTGGAGGGAGGTAATGGGAAGCAATGGTGCATTTTTATAGGAATAGGCTACAAATATTCATCAGATGCTTAAAAGGTTCCGTGACCTCTAAGAGATTAAGAACCACACACTTAGTGCTTCCCAGGTCTTTCCAAGAATCCATCCCAACAGAGGAATCTCTTAACTATCACAATTCAGTTCACTTTTCCATTGGGTCTATGTGTTGGGCTTTTTGGGCCATGCTCTCTGGGAGGCCTCCTTCTCTGTACAGATCTTTCAGGGCCTCAGAGCCACCCTACTATAGGGTCTGATGATCACCCTTCCTATTCTTCTCACAGGACCTGTGAGAGACTCCCTGAGACAGGAGGAGCAGGATACTCACCTCTTGCCTGCTACGGTGGCATCCCCTGAGGTCACTGTGGTGTCCCCAGTGAGCATCTTGAATGTGGTTGTTTTGCTGGCACCATTCACTCCCAGGAGGCCAAAGCACTAGGAGAAAACACAGAGCTAGCCTGGCCCTAGAGATCAAGAAGGTCTAAAATGTCAGGCCCCAGGGTAAGTGTGTGTGTGAGCTGGGGGAGGAATTTTAGACCTGGGCTGCCATCAGAGGCCACGAGCCATATGTGGCTACTAAGCACTTGAAACACATCTAAGTCCCAGTTGACACGGGCCCTGAGTGTAAAGATTCAAAGACTTAAAAACAACGAGAAATTGTCAAATATTTCATTAATAAGGTTTTCTATTAATTACATTTTGAAATAATATTTTGGTTATATTGAGTAAAATAAAAAATACTAATGAAATTAATTTTACCTATTTTCTTTTTACTTTTCTCATGTGGCTAGTGGAAGATTTAAAATTACATATGTGACTTGCATTATGGCATTATGTTCCTATTGAATAGCTCTGCCTTATGGGGAGGAGAGGCAGGCACAAGAGCTGATGTTCGGAAGCCTTTCACACGTGGTCTGCAGAGTACCCACCTCTCCAGGGCGAACTCCGACACACAGCCTGTCCACTGCTGGGCTGGAGGTGCCTGGATAAATCTGCAAGATACGAAGAAACCGGACTGAGAACTGAGACAGGGTGAGAGCAAGGAGGGGAAGAGGGAACAAAGAGCAAAGGATGGTTTAGGAGAAAACTACCAGCACTAGGAGGTTACATATTGACATGGGCAGGCACAGAGGTGTGGTGAGTACTGAGACATCTCGAGGCTGACCCATGCTCTGCAGAAACAGAACACAGAAAAGGGAATGATGCTCAGCTGGAGTGATTCTCACTGAGGCCCTGTGTCAGTGCCCGAGATGAATAGCAGGGAACACACATTGGAATTAGATGCTCTTGGAAGACGAGTTATAACACAGGGATGATGACCCTACATAAAACTGGGAACCAAATTGCTTGCATAAGCATATCAATTGTTCTATAGAAGGAAAATGGCAACATCATGCCAACTGTGGATCTAACCAGCACCTCCAAACTCATACCCATTCCCTTACCTTGGTTAGTTCATGTAGCCTTAAGATGTCAGTTTTATTTCCACCAGTAATAATTCTTTGTCTTTCTTCAGCCACATCATCATCTTCATCAACAATGGGCTCCTTAGTGGGCTCGGCAATCCTAGATGAAGAAAAGGGGTCAGGATTGGGCTGGCTGTACAGTGTCCTTGGCACTGTCCTTTCCATGGGACCTCTCTTCCACTTCCTTGCTTCTGCTTCCTTCTGGGCTTCCATCCTTTAAGACTTAAATTCTAAAAAGGGCTCCCAGCAGGAGAGGCATTAGGCATTAGGTAGAGAGGTCAGGTGCTCATGTCCAGAGTCAGCCTTGGGTTCCAGTCCTGGCCTCCTCATGTGTGATCTTGGGCATTGGACCTCTCTGAACCTTGCCTACTTCAACCATGTGATGAGGAGGAGGGTAACAATACCTGTCTCATAGGATTGTGCTGAAGATGAACTCAGCACAGTGCCTGGCACAGAGTAAAGACTCAGGGCCTGGGATCACCGTCAGGACTAAAATGCTTCCTCTACAGCAAGCACTCAGTAAGGGGTAGTTACTAACCTCCGAGCCTCCCACTTCCTCCAGTCTGCCCTGCCAACTCCACCTTTCCAAAACAGAGTTGTCATCAGGCCACCTCATGCCTCAAAACCTTCTGTTGTTCCCCATCAGCTGTAGGTTGAAGCCCTCCCTCTGCAGCTGTAGTTACAGCCCTGCAATCCAGCCCCACCTACCCTTCTCACTTACCTCTTGCACTAACTCCTCTGTCAGCAATTGGCATCTCCCCCTGGTTCCCAGTCCTATTGGTCATTCCCGTCTCCCAGCCTCCGCATGTGTTTCCAGTCCCTCAATGTTCTCCTCCTCCTGCCCCACCAAATGGAATCTTCCCCATTCTTAAAGACACAGCCTCTTCTTTGAAACCCTCCCTGACCTTCTGGAAGCCAGGGACTATGGTGTACTTCTCTGGTCCTCTTTAGGCCCTAAAGCAGGCAGGACTCATTCAAATGTGTTG
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Task1_train_1135
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This genomic variant is located on Chromosome 1, within the ABCA4 (ATP binding cassette subfamily A member 4) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Retinal dystrophy
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GGGAAAAGGAAGCTGCTTCTTCTCTTCTCCTATTTGGCTTCAGAAATGCATGGGATATTTGGGAATCAAAACAGGGGCCCTTCGGTTAGAAACTGAATCCTGTCAGATTCTTCCATGTTTCCATGTCTAGGATTAATTGAATCCCTGTTACGCCAAAAGTCAGCTTTCATTTTGGATCAGATCACCTCACATGTGAGTTTAAAAACAGAGGGAAGATCAGGTTTAAGAAAATGATTCATGATTTATCAATAATTTTCAGACATTTGGGAAGTAACTAGAAAAGATGCATGTGTCCCGATGGAAGTAAACTTCTCTATCTGTATTTATTGGCAAAGATAGCAATGAAAGAGGAGCCAGTCAGATAACTACCCACAGCGAGAGGCCTGCAGGGAGCAGGGGTAGAGTGAGTTGGGTTCCACCAACTCCCTTTGGCTAATATATTCACCCCCACTAAAAAATATATTGCCAAGATGGAAAATAAACTATACATAGACATTTAGTCTAATCTCATCCTTTTCTTCTTATAGCTTAGGGTCTATGAATAAAGGATGGATGATATAGGATGGTACAGAGAGACCATTACAGTTCCCCACAATGACAAAAGCCACCAAAGGCATGGCTGGGCCAATTAAAACTACTCAGGGAAGCAAGTAGGGTACGTTTCCAAATTAGTGGGAGCTACCCTACCATATAATCCCAATTCTGTGTCTTAAGCCTATAGTTTCTTTCTAGCGTCCAGCTCAGTTTTACCTTCTGGATGTCAGACTGTGCCTCACTTGGACACAGTTGTAACTTGATGTCTCATAAATGTGCTCATGGAAAATTCTATGATATCTTTCCCCTGCCATGGTATGATATCTCTACCCTGCCATGACTCCTTTTGTCACCATGAGGAAGTCACCTGCGTGGTCACTTGCAGGTGAAGCTGGATCTGTTGAGATGGACTCAGCCATGACCTGGCTTCACCCCTGCCTGTCCCTTTTCTGTAAACCCAGTAGGGCTGGCTATGGAGGCCAAAGAATCAAATTCATCCTGTCTGAGCCAGTGAAGCGTGCTCAGGACTCGTCCTGCCCACTGGGCATTGGGCCATGCTGAGGATGGCTTTCAGGAGAGAGGAAGAGGCCCCAGTCAAGCAGATGCTGGACAGATGTCAGCAGCACCTAACTCCACTTATAAACCAGGGCAGAGGCTTCCTCTGGGCACCTCTATTGTGTGTGCTGAAGTTTTACTGTTCAAGCTTTTCCTGCAGCCAGGAAAGAGGCAGATGAGTGAGAGCTCATCCTCTCTGTCCTGCCCATAGGGGACCAGTCTGTTTAAACACATTTTATTACAGAGAGCAGCAGTCACCCTCCAGAATCCAAGGGCACACGCCAGTTTTCCCTCTATGCTCCTTGGTCTGGCAAAGCCAAATATCAGCCTACAAATAGCCAATGCAGGTTAGGCTACCCCAAAGGCCCATGCATGAGCCCCTATCTAGAAACTCAACCCAGAGGAAGGATTCTTCATTCATCACAGGGGTTCTTAACCTGGGATTCAAGAGCTCCTGCAGGATCATAAATGTGACCTGGGGCTCAGTAAACTCCCTGAAACGTTTTGTAAAAATGTGTGGAGGGAGGTAATGGGAAGCAATGGTGCATTTTTATAGGAATAGGCTACAAATATTCATCAGATGCTTAAAAGGTTCCGTGACCTCTAAGAGATTAAGAACCACACACTTAGTGCTTCCCAGGTCTTTCCAAGAATCCATCCCAACAGAGGAATCTCTTAACTATCACAATTCAGTTCACTTTTCCATTGGGTCTATGTGTTGGGCTTTTTGGGCCATGCTCTCTGGGAGGCCTCCTTCTCTGTACAGATCTTTCAGGGCCTCAGAGCCACCCTACTATAGGGTCTGATGATCACCCTTCCTATTCTTCTCACAGGACCTGTGAGAGACTCCCTGAGACAGGAGGAGCAGGATACTCACCTCTTGCCTGCTACGGTGGCATCCCCTGAGGTCACTGTGGTGTCCCCAGTGAGCATCTTGAATGTGGTTGTTTTGCCGGCACCATTCACTCCCAGGAGGCCAAAGCACTAGGAGAAAACACAGAGCTAGCCTGGCCCTAGAGATCAAGAAGGTCTAAAATGTCAGGCCCCAGGGTAAGTGTGTGTGTGAGCTGGGGGAGGAATTTTAGACCTGGGCTGCCATCAGAGGCCACGAGCCATATGTGGCTACTAAGCACTTGAAACACATCTAAGTCCCAGTTGACACGGGCCCTGAGTGTAAAGATTCAAAGACTTAAAAACAACGAGAAATTGTCAAATATTTCATTAATAAGGTTTTCTATTAATTACATTTTGAAATAATATTTTGGTTATATTGAGTAAAATAAAAAATACTAATGAAATTAATTTTACCTATTTTCTTTTTACTTTTCTCATGTGGCTAGTGGAAGATTTAAAATTACATATGTGACTTGCATTATGGCATTATGTTCCTATTGAATAGCTCTGCCTTATGGGGAGGAGAGGCAGGCACAAGAGCTGATGTTCGGAAGCCTTTCACACGTGGTCTGCAGAGTACCCACCTCTCCAGGGCGAACTCCGACACACAGCCTGTCCACTGCTGGGCTGGAGGTGCCTGGATAAATCTGCAAGATACGAAGAAACCGGACTGAGAACTGAGACAGGGTGAGAGCAAGGAGGGGAAGAGGGAACAAAGAGCAAAGGATGGTTTAGGAGAAAACTACCAGCACTAGGAGGTTACATATTGACATGGGCAGGCACAGAGGTGTGGTGAGTACTGAGACATCTCGAGGCTGACCCATGCTCTGCAGAAACAGAACACAGAAAAGGGAATGATGCTCAGCTGGAGTGATTCTCACTGAGGCCCTGTGTCAGTGCCCGAGATGAATAGCAGGGAACACACATTGGAATTAGATGCTCTTGGAAGACGAGTTATAACACAGGGATGATGACCCTACATAAAACTGGGAACCAAATTGCTTGCATAAGCATATCAATTGTTCTATAGAAGGAAAATGGCAACATCATGCCAACTGTGGATCTAACCAGCACCTCCAAACTCATACCCATTCCCTTACCTTGGTTAGTTCATGTAGCCTTAAGATGTCAGTTTTATTTCCACCAGTAATAATTCTTTGTCTTTCTTCAGCCACATCATCATCTTCATCAACAATGGGCTCCTTAGTGGGCTCGGCAATCCTAGATGAAGAAAAGGGGTCAGGATTGGGCTGGCTGTACAGTGTCCTTGGCACTGTCCTTTCCATGGGACCTCTCTTCCACTTCCTTGCTTCTGCTTCCTTCTGGGCTTCCATCCTTTAAGACTTAAATTCTAAAAAGGGCTCCCAGCAGGAGAGGCATTAGGCATTAGGTAGAGAGGTCAGGTGCTCATGTCCAGAGTCAGCCTTGGGTTCCAGTCCTGGCCTCCTCATGTGTGATCTTGGGCATTGGACCTCTCTGAACCTTGCCTACTTCAACCATGTGATGAGGAGGAGGGTAACAATACCTGTCTCATAGGATTGTGCTGAAGATGAACTCAGCACAGTGCCTGGCACAGAGTAAAGACTCAGGGCCTGGGATCACCGTCAGGACTAAAATGCTTCCTCTACAGCAAGCACTCAGTAAGGGGTAGTTACTAACCTCCGAGCCTCCCACTTCCTCCAGTCTGCCCTGCCAACTCCACCTTTCCAAAACAGAGTTGTCATCAGGCCACCTCATGCCTCAAAACCTTCTGTTGTTCCCCATCAGCTGTAGGTTGAAGCCCTCCCTCTGCAGCTGTAGTTACAGCCCTGCAATCCAGCCCCACCTACCCTTCTCACTTACCTCTTGCACTAACTCCTCTGTCAGCAATTGGCATCTCCCCCTGGTTCCCAGTCCTATTGGTCATTCCCGTCTCCCAGCCTCCGCATGTGTTTCCAGTCCCTCAATGTTCTCCTCCTCCTGCCCCACCAAATGGAATCTTCCCCATTCTTAAAGACACAGCCTCTTCTTTGAAACCCTCCCTGACCTTCTGGAAGCCAGGGACTATGGTGTACTTCTCTGGTCCTCTTTAGGCCCTAAAGCAGGCAGGACTCATTCAAATGTGTTGACATCA
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GGGAAAAGGAAGCTGCTTCTTCTCTTCTCCTATTTGGCTTCAGAAATGCATGGGATATTTGGGAATCAAAACAGGGGCCCTTCGGTTAGAAACTGAATCCTGTCAGATTCTTCCATGTTTCCATGTCTAGGATTAATTGAATCCCTGTTACGCCAAAAGTCAGCTTTCATTTTGGATCAGATCACCTCACATGTGAGTTTAAAAACAGAGGGAAGATCAGGTTTAAGAAAATGATTCATGATTTATCAATAATTTTCAGACATTTGGGAAGTAACTAGAAAAGATGCATGTGTCCCGATGGAAGTAAACTTCTCTATCTGTATTTATTGGCAAAGATAGCAATGAAAGAGGAGCCAGTCAGATAACTACCCACAGCGAGAGGCCTGCAGGGAGCAGGGGTAGAGTGAGTTGGGTTCCACCAACTCCCTTTGGCTAATATATTCACCCCCACTAAAAAATATATTGCCAAGATGGAAAATAAACTATACATAGACATTTAGTCTAATCTCATCCTTTTCTTCTTATAGCTTAGGGTCTATGAATAAAGGATGGATGATATAGGATGGTACAGAGAGACCATTACAGTTCCCCACAATGACAAAAGCCACCAAAGGCATGGCTGGGCCAATTAAAACTACTCAGGGAAGCAAGTAGGGTACGTTTCCAAATTAGTGGGAGCTACCCTACCATATAATCCCAATTCTGTGTCTTAAGCCTATAGTTTCTTTCTAGCGTCCAGCTCAGTTTTACCTTCTGGATGTCAGACTGTGCCTCACTTGGACACAGTTGTAACTTGATGTCTCATAAATGTGCTCATGGAAAATTCTATGATATCTTTCCCCTGCCATGGTATGATATCTCTACCCTGCCATGACTCCTTTTGTCACCATGAGGAAGTCACCTGCGTGGTCACTTGCAGGTGAAGCTGGATCTGTTGAGATGGACTCAGCCATGACCTGGCTTCACCCCTGCCTGTCCCTTTTCTGTAAACCCAGTAGGGCTGGCTATGGAGGCCAAAGAATCAAATTCATCCTGTCTGAGCCAGTGAAGCGTGCTCAGGACTCGTCCTGCCCACTGGGCATTGGGCCATGCTGAGGATGGCTTTCAGGAGAGAGGAAGAGGCCCCAGTCAAGCAGATGCTGGACAGATGTCAGCAGCACCTAACTCCACTTATAAACCAGGGCAGAGGCTTCCTCTGGGCACCTCTATTGTGTGTGCTGAAGTTTTACTGTTCAAGCTTTTCCTGCAGCCAGGAAAGAGGCAGATGAGTGAGAGCTCATCCTCTCTGTCCTGCCCATAGGGGACCAGTCTGTTTAAACACATTTTATTACAGAGAGCAGCAGTCACCCTCCAGAATCCAAGGGCACACGCCAGTTTTCCCTCTATGCTCCTTGGTCTGGCAAAGCCAAATATCAGCCTACAAATAGCCAATGCAGGTTAGGCTACCCCAAAGGCCCATGCATGAGCCCCTATCTAGAAACTCAACCCAGAGGAAGGATTCTTCATTCATCACAGGGGTTCTTAACCTGGGATTCAAGAGCTCCTGCAGGATCATAAATGTGACCTGGGGCTCAGTAAACTCCCTGAAACGTTTTGTAAAAATGTGTGGAGGGAGGTAATGGGAAGCAATGGTGCATTTTTATAGGAATAGGCTACAAATATTCATCAGATGCTTAAAAGGTTCCGTGACCTCTAAGAGATTAAGAACCACACACTTAGTGCTTCCCAGGTCTTTCCAAGAATCCATCCCAACAGAGGAATCTCTTAACTATCACAATTCAGTTCACTTTTCCATTGGGTCTATGTGTTGGGCTTTTTGGGCCATGCTCTCTGGGAGGCCTCCTTCTCTGTACAGATCTTTCAGGGCCTCAGAGCCACCCTACTATAGGGTCTGATGATCACCCTTCCTATTCTTCTCACAGGACCTGTGAGAGACTCCCTGAGACAGGAGGAGCAGGATACTCACCTCTTGCCTGCTACGGTGGCATCCCCTGAGGTCACTGTGGTGTCCCCAGTGAGCATCTTGAATGTGGTTGTTTTGCCGGCACGATTCACTCCCAGGAGGCCAAAGCACTAGGAGAAAACACAGAGCTAGCCTGGCCCTAGAGATCAAGAAGGTCTAAAATGTCAGGCCCCAGGGTAAGTGTGTGTGTGAGCTGGGGGAGGAATTTTAGACCTGGGCTGCCATCAGAGGCCACGAGCCATATGTGGCTACTAAGCACTTGAAACACATCTAAGTCCCAGTTGACACGGGCCCTGAGTGTAAAGATTCAAAGACTTAAAAACAACGAGAAATTGTCAAATATTTCATTAATAAGGTTTTCTATTAATTACATTTTGAAATAATATTTTGGTTATATTGAGTAAAATAAAAAATACTAATGAAATTAATTTTACCTATTTTCTTTTTACTTTTCTCATGTGGCTAGTGGAAGATTTAAAATTACATATGTGACTTGCATTATGGCATTATGTTCCTATTGAATAGCTCTGCCTTATGGGGAGGAGAGGCAGGCACAAGAGCTGATGTTCGGAAGCCTTTCACACGTGGTCTGCAGAGTACCCACCTCTCCAGGGCGAACTCCGACACACAGCCTGTCCACTGCTGGGCTGGAGGTGCCTGGATAAATCTGCAAGATACGAAGAAACCGGACTGAGAACTGAGACAGGGTGAGAGCAAGGAGGGGAAGAGGGAACAAAGAGCAAAGGATGGTTTAGGAGAAAACTACCAGCACTAGGAGGTTACATATTGACATGGGCAGGCACAGAGGTGTGGTGAGTACTGAGACATCTCGAGGCTGACCCATGCTCTGCAGAAACAGAACACAGAAAAGGGAATGATGCTCAGCTGGAGTGATTCTCACTGAGGCCCTGTGTCAGTGCCCGAGATGAATAGCAGGGAACACACATTGGAATTAGATGCTCTTGGAAGACGAGTTATAACACAGGGATGATGACCCTACATAAAACTGGGAACCAAATTGCTTGCATAAGCATATCAATTGTTCTATAGAAGGAAAATGGCAACATCATGCCAACTGTGGATCTAACCAGCACCTCCAAACTCATACCCATTCCCTTACCTTGGTTAGTTCATGTAGCCTTAAGATGTCAGTTTTATTTCCACCAGTAATAATTCTTTGTCTTTCTTCAGCCACATCATCATCTTCATCAACAATGGGCTCCTTAGTGGGCTCGGCAATCCTAGATGAAGAAAAGGGGTCAGGATTGGGCTGGCTGTACAGTGTCCTTGGCACTGTCCTTTCCATGGGACCTCTCTTCCACTTCCTTGCTTCTGCTTCCTTCTGGGCTTCCATCCTTTAAGACTTAAATTCTAAAAAGGGCTCCCAGCAGGAGAGGCATTAGGCATTAGGTAGAGAGGTCAGGTGCTCATGTCCAGAGTCAGCCTTGGGTTCCAGTCCTGGCCTCCTCATGTGTGATCTTGGGCATTGGACCTCTCTGAACCTTGCCTACTTCAACCATGTGATGAGGAGGAGGGTAACAATACCTGTCTCATAGGATTGTGCTGAAGATGAACTCAGCACAGTGCCTGGCACAGAGTAAAGACTCAGGGCCTGGGATCACCGTCAGGACTAAAATGCTTCCTCTACAGCAAGCACTCAGTAAGGGGTAGTTACTAACCTCCGAGCCTCCCACTTCCTCCAGTCTGCCCTGCCAACTCCACCTTTCCAAAACAGAGTTGTCATCAGGCCACCTCATGCCTCAAAACCTTCTGTTGTTCCCCATCAGCTGTAGGTTGAAGCCCTCCCTCTGCAGCTGTAGTTACAGCCCTGCAATCCAGCCCCACCTACCCTTCTCACTTACCTCTTGCACTAACTCCTCTGTCAGCAATTGGCATCTCCCCCTGGTTCCCAGTCCTATTGGTCATTCCCGTCTCCCAGCCTCCGCATGTGTTTCCAGTCCCTCAATGTTCTCCTCCTCCTGCCCCACCAAATGGAATCTTCCCCATTCTTAAAGACACAGCCTCTTCTTTGAAACCCTCCCTGACCTTCTGGAAGCCAGGGACTATGGTGTACTTCTCTGGTCCTCTTTAGGCCCTAAAGCAGGCAGGACTCATTCAAATGTGTTGACATCA
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Task1_train_1136
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This variant affects gene ABCA4 (ATP binding cassette subfamily A member 4) located on Chromosome 1. Evaluate its biological effect and specify any disease association.
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Pathogenic; not provided
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AAGCTGCTTCTTCTCTTCTCCTATTTGGCTTCAGAAATGCATGGGATATTTGGGAATCAAAACAGGGGCCCTTCGGTTAGAAACTGAATCCTGTCAGATTCTTCCATGTTTCCATGTCTAGGATTAATTGAATCCCTGTTACGCCAAAAGTCAGCTTTCATTTTGGATCAGATCACCTCACATGTGAGTTTAAAAACAGAGGGAAGATCAGGTTTAAGAAAATGATTCATGATTTATCAATAATTTTCAGACATTTGGGAAGTAACTAGAAAAGATGCATGTGTCCCGATGGAAGTAAACTTCTCTATCTGTATTTATTGGCAAAGATAGCAATGAAAGAGGAGCCAGTCAGATAACTACCCACAGCGAGAGGCCTGCAGGGAGCAGGGGTAGAGTGAGTTGGGTTCCACCAACTCCCTTTGGCTAATATATTCACCCCCACTAAAAAATATATTGCCAAGATGGAAAATAAACTATACATAGACATTTAGTCTAATCTCATCCTTTTCTTCTTATAGCTTAGGGTCTATGAATAAAGGATGGATGATATAGGATGGTACAGAGAGACCATTACAGTTCCCCACAATGACAAAAGCCACCAAAGGCATGGCTGGGCCAATTAAAACTACTCAGGGAAGCAAGTAGGGTACGTTTCCAAATTAGTGGGAGCTACCCTACCATATAATCCCAATTCTGTGTCTTAAGCCTATAGTTTCTTTCTAGCGTCCAGCTCAGTTTTACCTTCTGGATGTCAGACTGTGCCTCACTTGGACACAGTTGTAACTTGATGTCTCATAAATGTGCTCATGGAAAATTCTATGATATCTTTCCCCTGCCATGGTATGATATCTCTACCCTGCCATGACTCCTTTTGTCACCATGAGGAAGTCACCTGCGTGGTCACTTGCAGGTGAAGCTGGATCTGTTGAGATGGACTCAGCCATGACCTGGCTTCACCCCTGCCTGTCCCTTTTCTGTAAACCCAGTAGGGCTGGCTATGGAGGCCAAAGAATCAAATTCATCCTGTCTGAGCCAGTGAAGCGTGCTCAGGACTCGTCCTGCCCACTGGGCATTGGGCCATGCTGAGGATGGCTTTCAGGAGAGAGGAAGAGGCCCCAGTCAAGCAGATGCTGGACAGATGTCAGCAGCACCTAACTCCACTTATAAACCAGGGCAGAGGCTTCCTCTGGGCACCTCTATTGTGTGTGCTGAAGTTTTACTGTTCAAGCTTTTCCTGCAGCCAGGAAAGAGGCAGATGAGTGAGAGCTCATCCTCTCTGTCCTGCCCATAGGGGACCAGTCTGTTTAAACACATTTTATTACAGAGAGCAGCAGTCACCCTCCAGAATCCAAGGGCACACGCCAGTTTTCCCTCTATGCTCCTTGGTCTGGCAAAGCCAAATATCAGCCTACAAATAGCCAATGCAGGTTAGGCTACCCCAAAGGCCCATGCATGAGCCCCTATCTAGAAACTCAACCCAGAGGAAGGATTCTTCATTCATCACAGGGGTTCTTAACCTGGGATTCAAGAGCTCCTGCAGGATCATAAATGTGACCTGGGGCTCAGTAAACTCCCTGAAACGTTTTGTAAAAATGTGTGGAGGGAGGTAATGGGAAGCAATGGTGCATTTTTATAGGAATAGGCTACAAATATTCATCAGATGCTTAAAAGGTTCCGTGACCTCTAAGAGATTAAGAACCACACACTTAGTGCTTCCCAGGTCTTTCCAAGAATCCATCCCAACAGAGGAATCTCTTAACTATCACAATTCAGTTCACTTTTCCATTGGGTCTATGTGTTGGGCTTTTTGGGCCATGCTCTCTGGGAGGCCTCCTTCTCTGTACAGATCTTTCAGGGCCTCAGAGCCACCCTACTATAGGGTCTGATGATCACCCTTCCTATTCTTCTCACAGGACCTGTGAGAGACTCCCTGAGACAGGAGGAGCAGGATACTCACCTCTTGCCTGCTACGGTGGCATCCCCTGAGGTCACTGTGGTGTCCCCAGTGAGCATCTTGAATGTGGTTGTTTTGCCGGCACCATTCACTCCCAGGAGGCCAAAGCACTAGGAGAAAACACAGAGCTAGCCTGGCCCTAGAGATCAAGAAGGTCTAAAATGTCAGGCCCCAGGGTAAGTGTGTGTGTGAGCTGGGGGAGGAATTTTAGACCTGGGCTGCCATCAGAGGCCACGAGCCATATGTGGCTACTAAGCACTTGAAACACATCTAAGTCCCAGTTGACACGGGCCCTGAGTGTAAAGATTCAAAGACTTAAAAACAACGAGAAATTGTCAAATATTTCATTAATAAGGTTTTCTATTAATTACATTTTGAAATAATATTTTGGTTATATTGAGTAAAATAAAAAATACTAATGAAATTAATTTTACCTATTTTCTTTTTACTTTTCTCATGTGGCTAGTGGAAGATTTAAAATTACATATGTGACTTGCATTATGGCATTATGTTCCTATTGAATAGCTCTGCCTTATGGGGAGGAGAGGCAGGCACAAGAGCTGATGTTCGGAAGCCTTTCACACGTGGTCTGCAGAGTACCCACCTCTCCAGGGCGAACTCCGACACACAGCCTGTCCACTGCTGGGCTGGAGGTGCCTGGATAAATCTGCAAGATACGAAGAAACCGGACTGAGAACTGAGACAGGGTGAGAGCAAGGAGGGGAAGAGGGAACAAAGAGCAAAGGATGGTTTAGGAGAAAACTACCAGCACTAGGAGGTTACATATTGACATGGGCAGGCACAGAGGTGTGGTGAGTACTGAGACATCTCGAGGCTGACCCATGCTCTGCAGAAACAGAACACAGAAAAGGGAATGATGCTCAGCTGGAGTGATTCTCACTGAGGCCCTGTGTCAGTGCCCGAGATGAATAGCAGGGAACACACATTGGAATTAGATGCTCTTGGAAGACGAGTTATAACACAGGGATGATGACCCTACATAAAACTGGGAACCAAATTGCTTGCATAAGCATATCAATTGTTCTATAGAAGGAAAATGGCAACATCATGCCAACTGTGGATCTAACCAGCACCTCCAAACTCATACCCATTCCCTTACCTTGGTTAGTTCATGTAGCCTTAAGATGTCAGTTTTATTTCCACCAGTAATAATTCTTTGTCTTTCTTCAGCCACATCATCATCTTCATCAACAATGGGCTCCTTAGTGGGCTCGGCAATCCTAGATGAAGAAAAGGGGTCAGGATTGGGCTGGCTGTACAGTGTCCTTGGCACTGTCCTTTCCATGGGACCTCTCTTCCACTTCCTTGCTTCTGCTTCCTTCTGGGCTTCCATCCTTTAAGACTTAAATTCTAAAAAGGGCTCCCAGCAGGAGAGGCATTAGGCATTAGGTAGAGAGGTCAGGTGCTCATGTCCAGAGTCAGCCTTGGGTTCCAGTCCTGGCCTCCTCATGTGTGATCTTGGGCATTGGACCTCTCTGAACCTTGCCTACTTCAACCATGTGATGAGGAGGAGGGTAACAATACCTGTCTCATAGGATTGTGCTGAAGATGAACTCAGCACAGTGCCTGGCACAGAGTAAAGACTCAGGGCCTGGGATCACCGTCAGGACTAAAATGCTTCCTCTACAGCAAGCACTCAGTAAGGGGTAGTTACTAACCTCCGAGCCTCCCACTTCCTCCAGTCTGCCCTGCCAACTCCACCTTTCCAAAACAGAGTTGTCATCAGGCCACCTCATGCCTCAAAACCTTCTGTTGTTCCCCATCAGCTGTAGGTTGAAGCCCTCCCTCTGCAGCTGTAGTTACAGCCCTGCAATCCAGCCCCACCTACCCTTCTCACTTACCTCTTGCACTAACTCCTCTGTCAGCAATTGGCATCTCCCCCTGGTTCCCAGTCCTATTGGTCATTCCCGTCTCCCAGCCTCCGCATGTGTTTCCAGTCCCTCAATGTTCTCCTCCTCCTGCCCCACCAAATGGAATCTTCCCCATTCTTAAAGACACAGCCTCTTCTTTGAAACCCTCCCTGACCTTCTGGAAGCCAGGGACTATGGTGTACTTCTCTGGTCCTCTTTAGGCCCTAAAGCAGGCAGGACTCATTCAAATGTGTTGACATCAGAGTTTGAA
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AAGCTGCTTCTTCTCTTCTCCTATTTGGCTTCAGAAATGCATGGGATATTTGGGAATCAAAACAGGGGCCCTTCGGTTAGAAACTGAATCCTGTCAGATTCTTCCATGTTTCCATGTCTAGGATTAATTGAATCCCTGTTACGCCAAAAGTCAGCTTTCATTTTGGATCAGATCACCTCACATGTGAGTTTAAAAACAGAGGGAAGATCAGGTTTAAGAAAATGATTCATGATTTATCAATAATTTTCAGACATTTGGGAAGTAACTAGAAAAGATGCATGTGTCCCGATGGAAGTAAACTTCTCTATCTGTATTTATTGGCAAAGATAGCAATGAAAGAGGAGCCAGTCAGATAACTACCCACAGCGAGAGGCCTGCAGGGAGCAGGGGTAGAGTGAGTTGGGTTCCACCAACTCCCTTTGGCTAATATATTCACCCCCACTAAAAAATATATTGCCAAGATGGAAAATAAACTATACATAGACATTTAGTCTAATCTCATCCTTTTCTTCTTATAGCTTAGGGTCTATGAATAAAGGATGGATGATATAGGATGGTACAGAGAGACCATTACAGTTCCCCACAATGACAAAAGCCACCAAAGGCATGGCTGGGCCAATTAAAACTACTCAGGGAAGCAAGTAGGGTACGTTTCCAAATTAGTGGGAGCTACCCTACCATATAATCCCAATTCTGTGTCTTAAGCCTATAGTTTCTTTCTAGCGTCCAGCTCAGTTTTACCTTCTGGATGTCAGACTGTGCCTCACTTGGACACAGTTGTAACTTGATGTCTCATAAATGTGCTCATGGAAAATTCTATGATATCTTTCCCCTGCCATGGTATGATATCTCTACCCTGCCATGACTCCTTTTGTCACCATGAGGAAGTCACCTGCGTGGTCACTTGCAGGTGAAGCTGGATCTGTTGAGATGGACTCAGCCATGACCTGGCTTCACCCCTGCCTGTCCCTTTTCTGTAAACCCAGTAGGGCTGGCTATGGAGGCCAAAGAATCAAATTCATCCTGTCTGAGCCAGTGAAGCGTGCTCAGGACTCGTCCTGCCCACTGGGCATTGGGCCATGCTGAGGATGGCTTTCAGGAGAGAGGAAGAGGCCCCAGTCAAGCAGATGCTGGACAGATGTCAGCAGCACCTAACTCCACTTATAAACCAGGGCAGAGGCTTCCTCTGGGCACCTCTATTGTGTGTGCTGAAGTTTTACTGTTCAAGCTTTTCCTGCAGCCAGGAAAGAGGCAGATGAGTGAGAGCTCATCCTCTCTGTCCTGCCCATAGGGGACCAGTCTGTTTAAACACATTTTATTACAGAGAGCAGCAGTCACCCTCCAGAATCCAAGGGCACACGCCAGTTTTCCCTCTATGCTCCTTGGTCTGGCAAAGCCAAATATCAGCCTACAAATAGCCAATGCAGGTTAGGCTACCCCAAAGGCCCATGCATGAGCCCCTATCTAGAAACTCAACCCAGAGGAAGGATTCTTCATTCATCACAGGGGTTCTTAACCTGGGATTCAAGAGCTCCTGCAGGATCATAAATGTGACCTGGGGCTCAGTAAACTCCCTGAAACGTTTTGTAAAAATGTGTGGAGGGAGGTAATGGGAAGCAATGGTGCATTTTTATAGGAATAGGCTACAAATATTCATCAGATGCTTAAAAGGTTCCGTGACCTCTAAGAGATTAAGAACCACACACTTAGTGCTTCCCAGGTCTTTCCAAGAATCCATCCCAACAGAGGAATCTCTTAACTATCACAATTCAGTTCACTTTTCCATTGGGTCTATGTGTTGGGCTTTTTGGGCCATGCTCTCTGGGAGGCCTCCTTCTCTGTACAGATCTTTCAGGGCCTCAGAGCCACCCTACTATAGGGTCTGATGATCACCCTTCCTATTCTTCTCACAGGACCTGTGAGAGACTCCCTGAGACAGGAGGAGCAGGATACTCACCTCTTGCCTGCTACGGTGGCATCCCCTGAGGTCACTGTGGTGTCCCCAGTGAGCATCTTGAATGTGGTTGTTTTGCCGGCACCATTCACTCTCAGGAGGCCAAAGCACTAGGAGAAAACACAGAGCTAGCCTGGCCCTAGAGATCAAGAAGGTCTAAAATGTCAGGCCCCAGGGTAAGTGTGTGTGTGAGCTGGGGGAGGAATTTTAGACCTGGGCTGCCATCAGAGGCCACGAGCCATATGTGGCTACTAAGCACTTGAAACACATCTAAGTCCCAGTTGACACGGGCCCTGAGTGTAAAGATTCAAAGACTTAAAAACAACGAGAAATTGTCAAATATTTCATTAATAAGGTTTTCTATTAATTACATTTTGAAATAATATTTTGGTTATATTGAGTAAAATAAAAAATACTAATGAAATTAATTTTACCTATTTTCTTTTTACTTTTCTCATGTGGCTAGTGGAAGATTTAAAATTACATATGTGACTTGCATTATGGCATTATGTTCCTATTGAATAGCTCTGCCTTATGGGGAGGAGAGGCAGGCACAAGAGCTGATGTTCGGAAGCCTTTCACACGTGGTCTGCAGAGTACCCACCTCTCCAGGGCGAACTCCGACACACAGCCTGTCCACTGCTGGGCTGGAGGTGCCTGGATAAATCTGCAAGATACGAAGAAACCGGACTGAGAACTGAGACAGGGTGAGAGCAAGGAGGGGAAGAGGGAACAAAGAGCAAAGGATGGTTTAGGAGAAAACTACCAGCACTAGGAGGTTACATATTGACATGGGCAGGCACAGAGGTGTGGTGAGTACTGAGACATCTCGAGGCTGACCCATGCTCTGCAGAAACAGAACACAGAAAAGGGAATGATGCTCAGCTGGAGTGATTCTCACTGAGGCCCTGTGTCAGTGCCCGAGATGAATAGCAGGGAACACACATTGGAATTAGATGCTCTTGGAAGACGAGTTATAACACAGGGATGATGACCCTACATAAAACTGGGAACCAAATTGCTTGCATAAGCATATCAATTGTTCTATAGAAGGAAAATGGCAACATCATGCCAACTGTGGATCTAACCAGCACCTCCAAACTCATACCCATTCCCTTACCTTGGTTAGTTCATGTAGCCTTAAGATGTCAGTTTTATTTCCACCAGTAATAATTCTTTGTCTTTCTTCAGCCACATCATCATCTTCATCAACAATGGGCTCCTTAGTGGGCTCGGCAATCCTAGATGAAGAAAAGGGGTCAGGATTGGGCTGGCTGTACAGTGTCCTTGGCACTGTCCTTTCCATGGGACCTCTCTTCCACTTCCTTGCTTCTGCTTCCTTCTGGGCTTCCATCCTTTAAGACTTAAATTCTAAAAAGGGCTCCCAGCAGGAGAGGCATTAGGCATTAGGTAGAGAGGTCAGGTGCTCATGTCCAGAGTCAGCCTTGGGTTCCAGTCCTGGCCTCCTCATGTGTGATCTTGGGCATTGGACCTCTCTGAACCTTGCCTACTTCAACCATGTGATGAGGAGGAGGGTAACAATACCTGTCTCATAGGATTGTGCTGAAGATGAACTCAGCACAGTGCCTGGCACAGAGTAAAGACTCAGGGCCTGGGATCACCGTCAGGACTAAAATGCTTCCTCTACAGCAAGCACTCAGTAAGGGGTAGTTACTAACCTCCGAGCCTCCCACTTCCTCCAGTCTGCCCTGCCAACTCCACCTTTCCAAAACAGAGTTGTCATCAGGCCACCTCATGCCTCAAAACCTTCTGTTGTTCCCCATCAGCTGTAGGTTGAAGCCCTCCCTCTGCAGCTGTAGTTACAGCCCTGCAATCCAGCCCCACCTACCCTTCTCACTTACCTCTTGCACTAACTCCTCTGTCAGCAATTGGCATCTCCCCCTGGTTCCCAGTCCTATTGGTCATTCCCGTCTCCCAGCCTCCGCATGTGTTTCCAGTCCCTCAATGTTCTCCTCCTCCTGCCCCACCAAATGGAATCTTCCCCATTCTTAAAGACACAGCCTCTTCTTTGAAACCCTCCCTGACCTTCTGGAAGCCAGGGACTATGGTGTACTTCTCTGGTCCTCTTTAGGCCCTAAAGCAGGCAGGACTCATTCAAATGTGTTGACATCAGAGTTTGAA
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Task1_train_1137
|
This gene mutation involves ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Is it associated with any clinical condition, or is it benign?
|
Pathogenic; not provided
|
GCTGCTTCTTCTCTTCTCCTATTTGGCTTCAGAAATGCATGGGATATTTGGGAATCAAAACAGGGGCCCTTCGGTTAGAAACTGAATCCTGTCAGATTCTTCCATGTTTCCATGTCTAGGATTAATTGAATCCCTGTTACGCCAAAAGTCAGCTTTCATTTTGGATCAGATCACCTCACATGTGAGTTTAAAAACAGAGGGAAGATCAGGTTTAAGAAAATGATTCATGATTTATCAATAATTTTCAGACATTTGGGAAGTAACTAGAAAAGATGCATGTGTCCCGATGGAAGTAAACTTCTCTATCTGTATTTATTGGCAAAGATAGCAATGAAAGAGGAGCCAGTCAGATAACTACCCACAGCGAGAGGCCTGCAGGGAGCAGGGGTAGAGTGAGTTGGGTTCCACCAACTCCCTTTGGCTAATATATTCACCCCCACTAAAAAATATATTGCCAAGATGGAAAATAAACTATACATAGACATTTAGTCTAATCTCATCCTTTTCTTCTTATAGCTTAGGGTCTATGAATAAAGGATGGATGATATAGGATGGTACAGAGAGACCATTACAGTTCCCCACAATGACAAAAGCCACCAAAGGCATGGCTGGGCCAATTAAAACTACTCAGGGAAGCAAGTAGGGTACGTTTCCAAATTAGTGGGAGCTACCCTACCATATAATCCCAATTCTGTGTCTTAAGCCTATAGTTTCTTTCTAGCGTCCAGCTCAGTTTTACCTTCTGGATGTCAGACTGTGCCTCACTTGGACACAGTTGTAACTTGATGTCTCATAAATGTGCTCATGGAAAATTCTATGATATCTTTCCCCTGCCATGGTATGATATCTCTACCCTGCCATGACTCCTTTTGTCACCATGAGGAAGTCACCTGCGTGGTCACTTGCAGGTGAAGCTGGATCTGTTGAGATGGACTCAGCCATGACCTGGCTTCACCCCTGCCTGTCCCTTTTCTGTAAACCCAGTAGGGCTGGCTATGGAGGCCAAAGAATCAAATTCATCCTGTCTGAGCCAGTGAAGCGTGCTCAGGACTCGTCCTGCCCACTGGGCATTGGGCCATGCTGAGGATGGCTTTCAGGAGAGAGGAAGAGGCCCCAGTCAAGCAGATGCTGGACAGATGTCAGCAGCACCTAACTCCACTTATAAACCAGGGCAGAGGCTTCCTCTGGGCACCTCTATTGTGTGTGCTGAAGTTTTACTGTTCAAGCTTTTCCTGCAGCCAGGAAAGAGGCAGATGAGTGAGAGCTCATCCTCTCTGTCCTGCCCATAGGGGACCAGTCTGTTTAAACACATTTTATTACAGAGAGCAGCAGTCACCCTCCAGAATCCAAGGGCACACGCCAGTTTTCCCTCTATGCTCCTTGGTCTGGCAAAGCCAAATATCAGCCTACAAATAGCCAATGCAGGTTAGGCTACCCCAAAGGCCCATGCATGAGCCCCTATCTAGAAACTCAACCCAGAGGAAGGATTCTTCATTCATCACAGGGGTTCTTAACCTGGGATTCAAGAGCTCCTGCAGGATCATAAATGTGACCTGGGGCTCAGTAAACTCCCTGAAACGTTTTGTAAAAATGTGTGGAGGGAGGTAATGGGAAGCAATGGTGCATTTTTATAGGAATAGGCTACAAATATTCATCAGATGCTTAAAAGGTTCCGTGACCTCTAAGAGATTAAGAACCACACACTTAGTGCTTCCCAGGTCTTTCCAAGAATCCATCCCAACAGAGGAATCTCTTAACTATCACAATTCAGTTCACTTTTCCATTGGGTCTATGTGTTGGGCTTTTTGGGCCATGCTCTCTGGGAGGCCTCCTTCTCTGTACAGATCTTTCAGGGCCTCAGAGCCACCCTACTATAGGGTCTGATGATCACCCTTCCTATTCTTCTCACAGGACCTGTGAGAGACTCCCTGAGACAGGAGGAGCAGGATACTCACCTCTTGCCTGCTACGGTGGCATCCCCTGAGGTCACTGTGGTGTCCCCAGTGAGCATCTTGAATGTGGTTGTTTTGCCGGCACCATTCACTCCCAGGAGGCCAAAGCACTAGGAGAAAACACAGAGCTAGCCTGGCCCTAGAGATCAAGAAGGTCTAAAATGTCAGGCCCCAGGGTAAGTGTGTGTGTGAGCTGGGGGAGGAATTTTAGACCTGGGCTGCCATCAGAGGCCACGAGCCATATGTGGCTACTAAGCACTTGAAACACATCTAAGTCCCAGTTGACACGGGCCCTGAGTGTAAAGATTCAAAGACTTAAAAACAACGAGAAATTGTCAAATATTTCATTAATAAGGTTTTCTATTAATTACATTTTGAAATAATATTTTGGTTATATTGAGTAAAATAAAAAATACTAATGAAATTAATTTTACCTATTTTCTTTTTACTTTTCTCATGTGGCTAGTGGAAGATTTAAAATTACATATGTGACTTGCATTATGGCATTATGTTCCTATTGAATAGCTCTGCCTTATGGGGAGGAGAGGCAGGCACAAGAGCTGATGTTCGGAAGCCTTTCACACGTGGTCTGCAGAGTACCCACCTCTCCAGGGCGAACTCCGACACACAGCCTGTCCACTGCTGGGCTGGAGGTGCCTGGATAAATCTGCAAGATACGAAGAAACCGGACTGAGAACTGAGACAGGGTGAGAGCAAGGAGGGGAAGAGGGAACAAAGAGCAAAGGATGGTTTAGGAGAAAACTACCAGCACTAGGAGGTTACATATTGACATGGGCAGGCACAGAGGTGTGGTGAGTACTGAGACATCTCGAGGCTGACCCATGCTCTGCAGAAACAGAACACAGAAAAGGGAATGATGCTCAGCTGGAGTGATTCTCACTGAGGCCCTGTGTCAGTGCCCGAGATGAATAGCAGGGAACACACATTGGAATTAGATGCTCTTGGAAGACGAGTTATAACACAGGGATGATGACCCTACATAAAACTGGGAACCAAATTGCTTGCATAAGCATATCAATTGTTCTATAGAAGGAAAATGGCAACATCATGCCAACTGTGGATCTAACCAGCACCTCCAAACTCATACCCATTCCCTTACCTTGGTTAGTTCATGTAGCCTTAAGATGTCAGTTTTATTTCCACCAGTAATAATTCTTTGTCTTTCTTCAGCCACATCATCATCTTCATCAACAATGGGCTCCTTAGTGGGCTCGGCAATCCTAGATGAAGAAAAGGGGTCAGGATTGGGCTGGCTGTACAGTGTCCTTGGCACTGTCCTTTCCATGGGACCTCTCTTCCACTTCCTTGCTTCTGCTTCCTTCTGGGCTTCCATCCTTTAAGACTTAAATTCTAAAAAGGGCTCCCAGCAGGAGAGGCATTAGGCATTAGGTAGAGAGGTCAGGTGCTCATGTCCAGAGTCAGCCTTGGGTTCCAGTCCTGGCCTCCTCATGTGTGATCTTGGGCATTGGACCTCTCTGAACCTTGCCTACTTCAACCATGTGATGAGGAGGAGGGTAACAATACCTGTCTCATAGGATTGTGCTGAAGATGAACTCAGCACAGTGCCTGGCACAGAGTAAAGACTCAGGGCCTGGGATCACCGTCAGGACTAAAATGCTTCCTCTACAGCAAGCACTCAGTAAGGGGTAGTTACTAACCTCCGAGCCTCCCACTTCCTCCAGTCTGCCCTGCCAACTCCACCTTTCCAAAACAGAGTTGTCATCAGGCCACCTCATGCCTCAAAACCTTCTGTTGTTCCCCATCAGCTGTAGGTTGAAGCCCTCCCTCTGCAGCTGTAGTTACAGCCCTGCAATCCAGCCCCACCTACCCTTCTCACTTACCTCTTGCACTAACTCCTCTGTCAGCAATTGGCATCTCCCCCTGGTTCCCAGTCCTATTGGTCATTCCCGTCTCCCAGCCTCCGCATGTGTTTCCAGTCCCTCAATGTTCTCCTCCTCCTGCCCCACCAAATGGAATCTTCCCCATTCTTAAAGACACAGCCTCTTCTTTGAAACCCTCCCTGACCTTCTGGAAGCCAGGGACTATGGTGTACTTCTCTGGTCCTCTTTAGGCCCTAAAGCAGGCAGGACTCATTCAAATGTGTTGACATCAGAGTTTGAAGC
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GCTGCTTCTTCTCTTCTCCTATTTGGCTTCAGAAATGCATGGGATATTTGGGAATCAAAACAGGGGCCCTTCGGTTAGAAACTGAATCCTGTCAGATTCTTCCATGTTTCCATGTCTAGGATTAATTGAATCCCTGTTACGCCAAAAGTCAGCTTTCATTTTGGATCAGATCACCTCACATGTGAGTTTAAAAACAGAGGGAAGATCAGGTTTAAGAAAATGATTCATGATTTATCAATAATTTTCAGACATTTGGGAAGTAACTAGAAAAGATGCATGTGTCCCGATGGAAGTAAACTTCTCTATCTGTATTTATTGGCAAAGATAGCAATGAAAGAGGAGCCAGTCAGATAACTACCCACAGCGAGAGGCCTGCAGGGAGCAGGGGTAGAGTGAGTTGGGTTCCACCAACTCCCTTTGGCTAATATATTCACCCCCACTAAAAAATATATTGCCAAGATGGAAAATAAACTATACATAGACATTTAGTCTAATCTCATCCTTTTCTTCTTATAGCTTAGGGTCTATGAATAAAGGATGGATGATATAGGATGGTACAGAGAGACCATTACAGTTCCCCACAATGACAAAAGCCACCAAAGGCATGGCTGGGCCAATTAAAACTACTCAGGGAAGCAAGTAGGGTACGTTTCCAAATTAGTGGGAGCTACCCTACCATATAATCCCAATTCTGTGTCTTAAGCCTATAGTTTCTTTCTAGCGTCCAGCTCAGTTTTACCTTCTGGATGTCAGACTGTGCCTCACTTGGACACAGTTGTAACTTGATGTCTCATAAATGTGCTCATGGAAAATTCTATGATATCTTTCCCCTGCCATGGTATGATATCTCTACCCTGCCATGACTCCTTTTGTCACCATGAGGAAGTCACCTGCGTGGTCACTTGCAGGTGAAGCTGGATCTGTTGAGATGGACTCAGCCATGACCTGGCTTCACCCCTGCCTGTCCCTTTTCTGTAAACCCAGTAGGGCTGGCTATGGAGGCCAAAGAATCAAATTCATCCTGTCTGAGCCAGTGAAGCGTGCTCAGGACTCGTCCTGCCCACTGGGCATTGGGCCATGCTGAGGATGGCTTTCAGGAGAGAGGAAGAGGCCCCAGTCAAGCAGATGCTGGACAGATGTCAGCAGCACCTAACTCCACTTATAAACCAGGGCAGAGGCTTCCTCTGGGCACCTCTATTGTGTGTGCTGAAGTTTTACTGTTCAAGCTTTTCCTGCAGCCAGGAAAGAGGCAGATGAGTGAGAGCTCATCCTCTCTGTCCTGCCCATAGGGGACCAGTCTGTTTAAACACATTTTATTACAGAGAGCAGCAGTCACCCTCCAGAATCCAAGGGCACACGCCAGTTTTCCCTCTATGCTCCTTGGTCTGGCAAAGCCAAATATCAGCCTACAAATAGCCAATGCAGGTTAGGCTACCCCAAAGGCCCATGCATGAGCCCCTATCTAGAAACTCAACCCAGAGGAAGGATTCTTCATTCATCACAGGGGTTCTTAACCTGGGATTCAAGAGCTCCTGCAGGATCATAAATGTGACCTGGGGCTCAGTAAACTCCCTGAAACGTTTTGTAAAAATGTGTGGAGGGAGGTAATGGGAAGCAATGGTGCATTTTTATAGGAATAGGCTACAAATATTCATCAGATGCTTAAAAGGTTCCGTGACCTCTAAGAGATTAAGAACCACACACTTAGTGCTTCCCAGGTCTTTCCAAGAATCCATCCCAACAGAGGAATCTCTTAACTATCACAATTCAGTTCACTTTTCCATTGGGTCTATGTGTTGGGCTTTTTGGGCCATGCTCTCTGGGAGGCCTCCTTCTCTGTACAGATCTTTCAGGGCCTCAGAGCCACCCTACTATAGGGTCTGATGATCACCCTTCCTATTCTTCTCACAGGACCTGTGAGAGACTCCCTGAGACAGGAGGAGCAGGATACTCACCTCTTGCCTGCTACGGTGGCATCCCCTGAGGTCACTGTGGTGTCCCCAGTGAGCATCTTGAATGTGGTTGTTTTGCCGGCACCATTCACTCCCCGGAGGCCAAAGCACTAGGAGAAAACACAGAGCTAGCCTGGCCCTAGAGATCAAGAAGGTCTAAAATGTCAGGCCCCAGGGTAAGTGTGTGTGTGAGCTGGGGGAGGAATTTTAGACCTGGGCTGCCATCAGAGGCCACGAGCCATATGTGGCTACTAAGCACTTGAAACACATCTAAGTCCCAGTTGACACGGGCCCTGAGTGTAAAGATTCAAAGACTTAAAAACAACGAGAAATTGTCAAATATTTCATTAATAAGGTTTTCTATTAATTACATTTTGAAATAATATTTTGGTTATATTGAGTAAAATAAAAAATACTAATGAAATTAATTTTACCTATTTTCTTTTTACTTTTCTCATGTGGCTAGTGGAAGATTTAAAATTACATATGTGACTTGCATTATGGCATTATGTTCCTATTGAATAGCTCTGCCTTATGGGGAGGAGAGGCAGGCACAAGAGCTGATGTTCGGAAGCCTTTCACACGTGGTCTGCAGAGTACCCACCTCTCCAGGGCGAACTCCGACACACAGCCTGTCCACTGCTGGGCTGGAGGTGCCTGGATAAATCTGCAAGATACGAAGAAACCGGACTGAGAACTGAGACAGGGTGAGAGCAAGGAGGGGAAGAGGGAACAAAGAGCAAAGGATGGTTTAGGAGAAAACTACCAGCACTAGGAGGTTACATATTGACATGGGCAGGCACAGAGGTGTGGTGAGTACTGAGACATCTCGAGGCTGACCCATGCTCTGCAGAAACAGAACACAGAAAAGGGAATGATGCTCAGCTGGAGTGATTCTCACTGAGGCCCTGTGTCAGTGCCCGAGATGAATAGCAGGGAACACACATTGGAATTAGATGCTCTTGGAAGACGAGTTATAACACAGGGATGATGACCCTACATAAAACTGGGAACCAAATTGCTTGCATAAGCATATCAATTGTTCTATAGAAGGAAAATGGCAACATCATGCCAACTGTGGATCTAACCAGCACCTCCAAACTCATACCCATTCCCTTACCTTGGTTAGTTCATGTAGCCTTAAGATGTCAGTTTTATTTCCACCAGTAATAATTCTTTGTCTTTCTTCAGCCACATCATCATCTTCATCAACAATGGGCTCCTTAGTGGGCTCGGCAATCCTAGATGAAGAAAAGGGGTCAGGATTGGGCTGGCTGTACAGTGTCCTTGGCACTGTCCTTTCCATGGGACCTCTCTTCCACTTCCTTGCTTCTGCTTCCTTCTGGGCTTCCATCCTTTAAGACTTAAATTCTAAAAAGGGCTCCCAGCAGGAGAGGCATTAGGCATTAGGTAGAGAGGTCAGGTGCTCATGTCCAGAGTCAGCCTTGGGTTCCAGTCCTGGCCTCCTCATGTGTGATCTTGGGCATTGGACCTCTCTGAACCTTGCCTACTTCAACCATGTGATGAGGAGGAGGGTAACAATACCTGTCTCATAGGATTGTGCTGAAGATGAACTCAGCACAGTGCCTGGCACAGAGTAAAGACTCAGGGCCTGGGATCACCGTCAGGACTAAAATGCTTCCTCTACAGCAAGCACTCAGTAAGGGGTAGTTACTAACCTCCGAGCCTCCCACTTCCTCCAGTCTGCCCTGCCAACTCCACCTTTCCAAAACAGAGTTGTCATCAGGCCACCTCATGCCTCAAAACCTTCTGTTGTTCCCCATCAGCTGTAGGTTGAAGCCCTCCCTCTGCAGCTGTAGTTACAGCCCTGCAATCCAGCCCCACCTACCCTTCTCACTTACCTCTTGCACTAACTCCTCTGTCAGCAATTGGCATCTCCCCCTGGTTCCCAGTCCTATTGGTCATTCCCGTCTCCCAGCCTCCGCATGTGTTTCCAGTCCCTCAATGTTCTCCTCCTCCTGCCCCACCAAATGGAATCTTCCCCATTCTTAAAGACACAGCCTCTTCTTTGAAACCCTCCCTGACCTTCTGGAAGCCAGGGACTATGGTGTACTTCTCTGGTCCTCTTTAGGCCCTAAAGCAGGCAGGACTCATTCAAATGTGTTGACATCAGAGTTTGAAGC
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Task1_train_1138
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Here is a mutation in ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; not provided
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AGCCACATCATCATCTTCATCAACAATGGGCTCCTTAGTGGGCTCGGCAATCCTAGATGAAGAAAAGGGGTCAGGATTGGGCTGGCTGTACAGTGTCCTTGGCACTGTCCTTTCCATGGGACCTCTCTTCCACTTCCTTGCTTCTGCTTCCTTCTGGGCTTCCATCCTTTAAGACTTAAATTCTAAAAAGGGCTCCCAGCAGGAGAGGCATTAGGCATTAGGTAGAGAGGTCAGGTGCTCATGTCCAGAGTCAGCCTTGGGTTCCAGTCCTGGCCTCCTCATGTGTGATCTTGGGCATTGGACCTCTCTGAACCTTGCCTACTTCAACCATGTGATGAGGAGGAGGGTAACAATACCTGTCTCATAGGATTGTGCTGAAGATGAACTCAGCACAGTGCCTGGCACAGAGTAAAGACTCAGGGCCTGGGATCACCGTCAGGACTAAAATGCTTCCTCTACAGCAAGCACTCAGTAAGGGGTAGTTACTAACCTCCGAGCCTCCCACTTCCTCCAGTCTGCCCTGCCAACTCCACCTTTCCAAAACAGAGTTGTCATCAGGCCACCTCATGCCTCAAAACCTTCTGTTGTTCCCCATCAGCTGTAGGTTGAAGCCCTCCCTCTGCAGCTGTAGTTACAGCCCTGCAATCCAGCCCCACCTACCCTTCTCACTTACCTCTTGCACTAACTCCTCTGTCAGCAATTGGCATCTCCCCCTGGTTCCCAGTCCTATTGGTCATTCCCGTCTCCCAGCCTCCGCATGTGTTTCCAGTCCCTCAATGTTCTCCTCCTCCTGCCCCACCAAATGGAATCTTCCCCATTCTTAAAGACACAGCCTCTTCTTTGAAACCCTCCCTGACCTTCTGGAAGCCAGGGACTATGGTGTACTTCTCTGGTCCTCTTTAGGCCCTAAAGCAGGCAGGACTCATTCAAATGTGTTGACATCAGAGTTTGAAGCTAATGAGTCAATTTGGGTAGTCAACCTCCTGACCTGCTCTCTCCCACACAAAAGCCTCTAAAAGGTATGGCCAAGGCTGCAGAAAGGGTCTGCAGGGGCTGAGGGTGCCAAGGACAACAATTCCTGACACTGTCTCCCATAACTAGAACTGCTTGTGTATCCTGTTTCATCAGGCGTGTGTTGACACCTGTGATCTCATTCACCTCTCACAGTCCTGTGAGTAGAAAGGCAGATTCATTTCCAATAAATCAATTCCCTGTGGATCAAAACATAAAACCAAGTCCTTGGAATCTATTTACAGGTGACCACACTCAGCCTGAGAGGAGGAAAAGTTAAGAAACAAAACACTATTGGGGAAAGCTTGCTAGGAAGGGCTGCTGCTTGGCAATTCAGGCCCCTGGGTGAGGACAATAAAGGTAGGACTGGATTGCAGAGGGGAGTGAGGCAGGGGCCCACCCAGCTTCAGGAAGAGCCTGCGGAAGAATGGCAATTGCCAGCTAACCTGGCATTTGAGAAGCCCTGGTCAAAAGTCAGGGTTGGCAGCTACCCACCTTCCTCCAGGAGTGGGGGGTCGTGATCACTGCCCGCACCCCTCCACATGGCTCCCATATTACTCCCATGCTCCCAAATCTCTAATTAGCAAAGGGGCCTGCTGTGTCCTTTCTCTCATAAATACATTAGTCTATTTCCTAGTACTTTGGATACCCTGTAACCATTGTTATTTGCAATACTATCATCTAATCAAAATACACATTTGGTAATTAAATGAGAAGGATTAAATATCAGCAATTGAAATTAATAGCACTGCATTTTAAATATTTTAAAGTGGATGCTCTTCACATATTTGAATGTGCCTATTTTAACCCGATCCTCTACTTGTATTATTGGAGAAAAGCCAGGCTTTGAGAATGTAGAAAAAACATTGTGGAGTGGGGCTCCTGAGGAAAGAAATGACCATGTGGGTATAAGGTCCAGTTCTGGATGCCCTGAGCTGCCCACTGGCCCAGGGTGTGGCATGGACGTACCATTGGGAGAGGAAGAAGTGGCGCTGGACCAGCAGGGTCAGGAGGAAGTACACCACCCCTTCCACCACCATGGCAAACAGGTTCTTCCCAATCAGGTCCCAGTGGAACGGATTTGCAGAGTGCTCCTCACCTGGGCATCAACAGGAATTGAGTCCACTTCAGCCGCCCCAGCTCACCCCACAGACCTGGCCACAGCACAGGGCCCACTAGACCAGGCCTTATGTGGGAACTGAGCAAGAGCCAAACACCCGCCTCATAAGGGCTGCCCTCCATCCCTCCTGTGGCTCCCCAGCCATGGAAACAGAGGCACCCTAATCCTCTCCAGCTGGCAGGACACCTCCAGCCCAACAAGGTCCCCTCCTAGCACCAGCCCCTGCCACAGTCTGATGCAGGAGCCCCCCCGGTAACCCTCCCAGCTTTGGACCCAGGGCCCATGCTCCATGGGCCTCGGCTACCACCCACCAAACCGGGCATAGACATCTGTCACAGCCTGGCTCAGTGCAAGGTCAATGAGGCCCCGGCCCAGGCAGAAGTGGGGGAAGACAATGAGCAGCTTCCTCAGCACGGCGTTGAACCTGAGCAGCGTCTGAAACAGAGAAGTAGGACTGTTGGAAACGGGGCAAACCCCACCCCCCCTCTCTTCAGCAGGTGGGGCCCAGATGCTCTCACAGGACAGCACAGGGCAAGGCCTGCAGACAGAGAGTCCTTGCAGCCAGACTGGCCACTGGAGGGATTTGTCCAGCAGAGCATCATGGGTTTGCAATGGAGGTCATGAAGTACTTACAAGCAGTGCCTCAAGGCCAGGCCAAGGAGCTAATCAATTAAATGACCAATCAAGGACTGGGGCTCCCTGCAAGTTTCTAGTGGGCGGGAGCTTCCCCTTTGTCTAGCCAGGCAGCATCTTCTAAACATTTACTATGCTCAGTACCATGTGGGCACCGAGGCTAACTGTGAGGAACCTGCATTACTGTCCTTACCCCTCCCCTAGGTGACTCTGGGGGTGACAGCAGGAATGTGCAGAGAAGCTGCAGCCCTCCTGCTGTCCACTTAGGGAGCTCTCCCTGCAGACTCACTTTGAAACAACAGGAGCCCTCAAGGCATTTGTTAACACCAGGCCCTGAGCCATCTCCAGCTCTGCTTTTCAGCCCCTCACAGGGCAACTACCATTGTCTAGGGAGAGGAGGGTTGGAGACTCTCTCTGGGGTCTGTGTTAAGCCAGGGACTTGTTTTCAAGTGGTCGGACTTGGCATGTTGGGCAGAGCCTCCCCTGAGAAAATAGAAGGGACATCGAGGCGTACGAGGCCAGCATAGCTCCTGGCTGGGCCACTGCTGTCCATTCCATCTGGCTCCTCCCAGTCCCACAACCTCCTCCCTCTCCAGCCTCCACACCTGCGCCCACATTACCTCATCCTTCCCTGCCTACCCTTTCTCCCCACTCTTTCTGGAATCACTGTGCTCTTTGGCCTCTAGGCCTGGGCATGTGCAGGCTGTTACCTATTGCTCCAAGCAGGAAAGAATGCTCTTTTCCCTTCTGCTTTCTTAAAGATTCCTGTTCTTCTTTAGACAGCTGGCTCAGAGAGTGCCTTCCCTTACAAGCCTTCCAAGATTCCCATGAGAAAGTATCCATTCCTCTCTCCCAGCACTTATCACATTCCCATGATTAATTTTTTAAAAATCTGCCTACTTTCTCTACTAGTCAGTGGGCCCCTGGAGGGTGGGCACTGAGTCCTAATTATTTTTTTGTCCTTCCTAAATACCTGCACAATGATTAGCTCAGAGTAGGCACTTCATTATTTATTAAATGGGCTAATAGAAATCTACAGGCTGAAATTGAACTTCCTCCACCACGGCTCCCCCAGCCCCTGCAGCCTGGCTCTTCCCGCTGCCTCTGGCCTGCAGCATGTTATCTGCCTCGCTCCTCTGCTGCTCTGTCACACGCTGTATTATGGAGGATCATACACTGTGGCTTATATCGTTGCAAACTTCGTGGGCAGGTCCTTTTCCGACTGGAACGGGAGCCTCTGGAGGGCAGGACGAGTGGGCCACGCTTGTTTATATCAGCACACACCCGGCACGTGGTGTTCAGCTGGTAAAGACCTCCTGATCTCACACGGGC
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AGCCACATCATCATCTTCATCAACAATGGGCTCCTTAGTGGGCTCGGCAATCCTAGATGAAGAAAAGGGGTCAGGATTGGGCTGGCTGTACAGTGTCCTTGGCACTGTCCTTTCCATGGGACCTCTCTTCCACTTCCTTGCTTCTGCTTCCTTCTGGGCTTCCATCCTTTAAGACTTAAATTCTAAAAAGGGCTCCCAGCAGGAGAGGCATTAGGCATTAGGTAGAGAGGTCAGGTGCTCATGTCCAGAGTCAGCCTTGGGTTCCAGTCCTGGCCTCCTCATGTGTGATCTTGGGCATTGGACCTCTCTGAACCTTGCCTACTTCAACCATGTGATGAGGAGGAGGGTAACAATACCTGTCTCATAGGATTGTGCTGAAGATGAACTCAGCACAGTGCCTGGCACAGAGTAAAGACTCAGGGCCTGGGATCACCGTCAGGACTAAAATGCTTCCTCTACAGCAAGCACTCAGTAAGGGGTAGTTACTAACCTCCGAGCCTCCCACTTCCTCCAGTCTGCCCTGCCAACTCCACCTTTCCAAAACAGAGTTGTCATCAGGCCACCTCATGCCTCAAAACCTTCTGTTGTTCCCCATCAGCTGTAGGTTGAAGCCCTCCCTCTGCAGCTGTAGTTACAGCCCTGCAATCCAGCCCCACCTACCCTTCTCACTTACCTCTTGCACTAACTCCTCTGTCAGCAATTGGCATCTCCCCCTGGTTCCCAGTCCTATTGGTCATTCCCGTCTCCCAGCCTCCGCATGTGTTTCCAGTCCCTCAATGTTCTCCTCCTCCTGCCCCACCAAATGGAATCTTCCCCATTCTTAAAGACACAGCCTCTTCTTTGAAACCCTCCCTGACCTTCTGGAAGCCAGGGACTATGGTGTACTTCTCTGGTCCTCTTTAGGCCCTAAAGCAGGCAGGACTCATTCAAATGTGTTGACATCAGAGTTTGAAGCTAATGAGTCAATTTGGGTAGTCAACCTCCTGACCTGCTCTCTCCCACACAAAAGCCTCTAAAAGGTATGGCCAAGGCTGCAGAAAGGGTCTGCAGGGGCTGAGGGTGCCAAGGACAACAATTCCTGACACTGTCTCCCATAACTAGAACTGCTTGTGTATCCTGTTTCATCAGGCGTGTGTTGACACCTGTGATCTCATTCACCTCTCACAGTCCTGTGAGTAGAAAGGCAGATTCATTTCCAATAAATCAATTCCCTGTGGATCAAAACATAAAACCAAGTCCTTGGAATCTATTTACAGGTGACCACACTCAGCCTGAGAGGAGGAAAAGTTAAGAAACAAAACACTATTGGGGAAAGCTTGCTAGGAAGGGCTGCTGCTTGGCAATTCAGGCCCCTGGGTGAGGACAATAAAGGTAGGACTGGATTGCAGAGGGGAGTGAGGCAGGGGCCCACCCAGCTTCAGGAAGAGCCTGCGGAAGAATGGCAATTGCCAGCTAACCTGGCATTTGAGAAGCCCTGGTCAAAAGTCAGGGTTGGCAGCTACCCACCTTCCTCCAGGAGTGGGGGGTCGTGATCACTGCCCGCACCCCTCCACATGGCTCCCATATTACTCCCATGCTCCCAAATCTCTAATTAGCAAAGGGGCCTGCTGTGTCCTTTCTCTCATAAATACATTAGTCTATTTCCTAGTACTTTGGATACCCTGTAACCATTGTTATTTGCAATACTATCATCTAATCAAAATACACATTTGGTAATTAAATGAGAAGGATTAAATATCAGCAATTGAAATTAATAGCACTGCATTTTAAATATTTTAAAGTGGATGCTCTTCACATATTTGAATGTGCCTATTTTAACCCGATCCTCTACTTGTATTATTGGAGAAAAGCCAGGCTTTGAGAATGTAGAAAAAACATTGTGGAGTGGGGCTCCTGAGGAAAGAAATGACCATGTGGGTATAAGGTCCAGTTCTGGATGCCCTGAGCTGCCCACTGGCCCAGGGTGTGGCATGGACGTACCATTGGGAGAGGAAGAAGTGGCGCTGGACCAGCAGGGTCAGGAGGAAGTACACCACCCCTTCCACCACAATGGCAAACAGGTTCTTCCCAATCAGGTCCCAGTGGAACGGATTTGCAGAGTGCTCCTCACCTGGGCATCAACAGGAATTGAGTCCACTTCAGCCGCCCCAGCTCACCCCACAGACCTGGCCACAGCACAGGGCCCACTAGACCAGGCCTTATGTGGGAACTGAGCAAGAGCCAAACACCCGCCTCATAAGGGCTGCCCTCCATCCCTCCTGTGGCTCCCCAGCCATGGAAACAGAGGCACCCTAATCCTCTCCAGCTGGCAGGACACCTCCAGCCCAACAAGGTCCCCTCCTAGCACCAGCCCCTGCCACAGTCTGATGCAGGAGCCCCCCCGGTAACCCTCCCAGCTTTGGACCCAGGGCCCATGCTCCATGGGCCTCGGCTACCACCCACCAAACCGGGCATAGACATCTGTCACAGCCTGGCTCAGTGCAAGGTCAATGAGGCCCCGGCCCAGGCAGAAGTGGGGGAAGACAATGAGCAGCTTCCTCAGCACGGCGTTGAACCTGAGCAGCGTCTGAAACAGAGAAGTAGGACTGTTGGAAACGGGGCAAACCCCACCCCCCCTCTCTTCAGCAGGTGGGGCCCAGATGCTCTCACAGGACAGCACAGGGCAAGGCCTGCAGACAGAGAGTCCTTGCAGCCAGACTGGCCACTGGAGGGATTTGTCCAGCAGAGCATCATGGGTTTGCAATGGAGGTCATGAAGTACTTACAAGCAGTGCCTCAAGGCCAGGCCAAGGAGCTAATCAATTAAATGACCAATCAAGGACTGGGGCTCCCTGCAAGTTTCTAGTGGGCGGGAGCTTCCCCTTTGTCTAGCCAGGCAGCATCTTCTAAACATTTACTATGCTCAGTACCATGTGGGCACCGAGGCTAACTGTGAGGAACCTGCATTACTGTCCTTACCCCTCCCCTAGGTGACTCTGGGGGTGACAGCAGGAATGTGCAGAGAAGCTGCAGCCCTCCTGCTGTCCACTTAGGGAGCTCTCCCTGCAGACTCACTTTGAAACAACAGGAGCCCTCAAGGCATTTGTTAACACCAGGCCCTGAGCCATCTCCAGCTCTGCTTTTCAGCCCCTCACAGGGCAACTACCATTGTCTAGGGAGAGGAGGGTTGGAGACTCTCTCTGGGGTCTGTGTTAAGCCAGGGACTTGTTTTCAAGTGGTCGGACTTGGCATGTTGGGCAGAGCCTCCCCTGAGAAAATAGAAGGGACATCGAGGCGTACGAGGCCAGCATAGCTCCTGGCTGGGCCACTGCTGTCCATTCCATCTGGCTCCTCCCAGTCCCACAACCTCCTCCCTCTCCAGCCTCCACACCTGCGCCCACATTACCTCATCCTTCCCTGCCTACCCTTTCTCCCCACTCTTTCTGGAATCACTGTGCTCTTTGGCCTCTAGGCCTGGGCATGTGCAGGCTGTTACCTATTGCTCCAAGCAGGAAAGAATGCTCTTTTCCCTTCTGCTTTCTTAAAGATTCCTGTTCTTCTTTAGACAGCTGGCTCAGAGAGTGCCTTCCCTTACAAGCCTTCCAAGATTCCCATGAGAAAGTATCCATTCCTCTCTCCCAGCACTTATCACATTCCCATGATTAATTTTTTAAAAATCTGCCTACTTTCTCTACTAGTCAGTGGGCCCCTGGAGGGTGGGCACTGAGTCCTAATTATTTTTTTGTCCTTCCTAAATACCTGCACAATGATTAGCTCAGAGTAGGCACTTCATTATTTATTAAATGGGCTAATAGAAATCTACAGGCTGAAATTGAACTTCCTCCACCACGGCTCCCCCAGCCCCTGCAGCCTGGCTCTTCCCGCTGCCTCTGGCCTGCAGCATGTTATCTGCCTCGCTCCTCTGCTGCTCTGTCACACGCTGTATTATGGAGGATCATACACTGTGGCTTATATCGTTGCAAACTTCGTGGGCAGGTCCTTTTCCGACTGGAACGGGAGCCTCTGGAGGGCAGGACGAGTGGGCCACGCTTGTTTATATCAGCACACACCCGGCACGTGGTGTTCAGCTGGTAAAGACCTCCTGATCTCACACGGGC
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Task1_train_1139
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Here is a variant affecting ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Autosomal recessive retinitis pigmentosa
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ACATCATCATCTTCATCAACAATGGGCTCCTTAGTGGGCTCGGCAATCCTAGATGAAGAAAAGGGGTCAGGATTGGGCTGGCTGTACAGTGTCCTTGGCACTGTCCTTTCCATGGGACCTCTCTTCCACTTCCTTGCTTCTGCTTCCTTCTGGGCTTCCATCCTTTAAGACTTAAATTCTAAAAAGGGCTCCCAGCAGGAGAGGCATTAGGCATTAGGTAGAGAGGTCAGGTGCTCATGTCCAGAGTCAGCCTTGGGTTCCAGTCCTGGCCTCCTCATGTGTGATCTTGGGCATTGGACCTCTCTGAACCTTGCCTACTTCAACCATGTGATGAGGAGGAGGGTAACAATACCTGTCTCATAGGATTGTGCTGAAGATGAACTCAGCACAGTGCCTGGCACAGAGTAAAGACTCAGGGCCTGGGATCACCGTCAGGACTAAAATGCTTCCTCTACAGCAAGCACTCAGTAAGGGGTAGTTACTAACCTCCGAGCCTCCCACTTCCTCCAGTCTGCCCTGCCAACTCCACCTTTCCAAAACAGAGTTGTCATCAGGCCACCTCATGCCTCAAAACCTTCTGTTGTTCCCCATCAGCTGTAGGTTGAAGCCCTCCCTCTGCAGCTGTAGTTACAGCCCTGCAATCCAGCCCCACCTACCCTTCTCACTTACCTCTTGCACTAACTCCTCTGTCAGCAATTGGCATCTCCCCCTGGTTCCCAGTCCTATTGGTCATTCCCGTCTCCCAGCCTCCGCATGTGTTTCCAGTCCCTCAATGTTCTCCTCCTCCTGCCCCACCAAATGGAATCTTCCCCATTCTTAAAGACACAGCCTCTTCTTTGAAACCCTCCCTGACCTTCTGGAAGCCAGGGACTATGGTGTACTTCTCTGGTCCTCTTTAGGCCCTAAAGCAGGCAGGACTCATTCAAATGTGTTGACATCAGAGTTTGAAGCTAATGAGTCAATTTGGGTAGTCAACCTCCTGACCTGCTCTCTCCCACACAAAAGCCTCTAAAAGGTATGGCCAAGGCTGCAGAAAGGGTCTGCAGGGGCTGAGGGTGCCAAGGACAACAATTCCTGACACTGTCTCCCATAACTAGAACTGCTTGTGTATCCTGTTTCATCAGGCGTGTGTTGACACCTGTGATCTCATTCACCTCTCACAGTCCTGTGAGTAGAAAGGCAGATTCATTTCCAATAAATCAATTCCCTGTGGATCAAAACATAAAACCAAGTCCTTGGAATCTATTTACAGGTGACCACACTCAGCCTGAGAGGAGGAAAAGTTAAGAAACAAAACACTATTGGGGAAAGCTTGCTAGGAAGGGCTGCTGCTTGGCAATTCAGGCCCCTGGGTGAGGACAATAAAGGTAGGACTGGATTGCAGAGGGGAGTGAGGCAGGGGCCCACCCAGCTTCAGGAAGAGCCTGCGGAAGAATGGCAATTGCCAGCTAACCTGGCATTTGAGAAGCCCTGGTCAAAAGTCAGGGTTGGCAGCTACCCACCTTCCTCCAGGAGTGGGGGGTCGTGATCACTGCCCGCACCCCTCCACATGGCTCCCATATTACTCCCATGCTCCCAAATCTCTAATTAGCAAAGGGGCCTGCTGTGTCCTTTCTCTCATAAATACATTAGTCTATTTCCTAGTACTTTGGATACCCTGTAACCATTGTTATTTGCAATACTATCATCTAATCAAAATACACATTTGGTAATTAAATGAGAAGGATTAAATATCAGCAATTGAAATTAATAGCACTGCATTTTAAATATTTTAAAGTGGATGCTCTTCACATATTTGAATGTGCCTATTTTAACCCGATCCTCTACTTGTATTATTGGAGAAAAGCCAGGCTTTGAGAATGTAGAAAAAACATTGTGGAGTGGGGCTCCTGAGGAAAGAAATGACCATGTGGGTATAAGGTCCAGTTCTGGATGCCCTGAGCTGCCCACTGGCCCAGGGTGTGGCATGGACGTACCATTGGGAGAGGAAGAAGTGGCGCTGGACCAGCAGGGTCAGGAGGAAGTACACCACCCCTTCCACCACCATGGCAAACAGGTTCTTCCCAATCAGGTCCCAGTGGAACGGATTTGCAGAGTGCTCCTCACCTGGGCATCAACAGGAATTGAGTCCACTTCAGCCGCCCCAGCTCACCCCACAGACCTGGCCACAGCACAGGGCCCACTAGACCAGGCCTTATGTGGGAACTGAGCAAGAGCCAAACACCCGCCTCATAAGGGCTGCCCTCCATCCCTCCTGTGGCTCCCCAGCCATGGAAACAGAGGCACCCTAATCCTCTCCAGCTGGCAGGACACCTCCAGCCCAACAAGGTCCCCTCCTAGCACCAGCCCCTGCCACAGTCTGATGCAGGAGCCCCCCCGGTAACCCTCCCAGCTTTGGACCCAGGGCCCATGCTCCATGGGCCTCGGCTACCACCCACCAAACCGGGCATAGACATCTGTCACAGCCTGGCTCAGTGCAAGGTCAATGAGGCCCCGGCCCAGGCAGAAGTGGGGGAAGACAATGAGCAGCTTCCTCAGCACGGCGTTGAACCTGAGCAGCGTCTGAAACAGAGAAGTAGGACTGTTGGAAACGGGGCAAACCCCACCCCCCCTCTCTTCAGCAGGTGGGGCCCAGATGCTCTCACAGGACAGCACAGGGCAAGGCCTGCAGACAGAGAGTCCTTGCAGCCAGACTGGCCACTGGAGGGATTTGTCCAGCAGAGCATCATGGGTTTGCAATGGAGGTCATGAAGTACTTACAAGCAGTGCCTCAAGGCCAGGCCAAGGAGCTAATCAATTAAATGACCAATCAAGGACTGGGGCTCCCTGCAAGTTTCTAGTGGGCGGGAGCTTCCCCTTTGTCTAGCCAGGCAGCATCTTCTAAACATTTACTATGCTCAGTACCATGTGGGCACCGAGGCTAACTGTGAGGAACCTGCATTACTGTCCTTACCCCTCCCCTAGGTGACTCTGGGGGTGACAGCAGGAATGTGCAGAGAAGCTGCAGCCCTCCTGCTGTCCACTTAGGGAGCTCTCCCTGCAGACTCACTTTGAAACAACAGGAGCCCTCAAGGCATTTGTTAACACCAGGCCCTGAGCCATCTCCAGCTCTGCTTTTCAGCCCCTCACAGGGCAACTACCATTGTCTAGGGAGAGGAGGGTTGGAGACTCTCTCTGGGGTCTGTGTTAAGCCAGGGACTTGTTTTCAAGTGGTCGGACTTGGCATGTTGGGCAGAGCCTCCCCTGAGAAAATAGAAGGGACATCGAGGCGTACGAGGCCAGCATAGCTCCTGGCTGGGCCACTGCTGTCCATTCCATCTGGCTCCTCCCAGTCCCACAACCTCCTCCCTCTCCAGCCTCCACACCTGCGCCCACATTACCTCATCCTTCCCTGCCTACCCTTTCTCCCCACTCTTTCTGGAATCACTGTGCTCTTTGGCCTCTAGGCCTGGGCATGTGCAGGCTGTTACCTATTGCTCCAAGCAGGAAAGAATGCTCTTTTCCCTTCTGCTTTCTTAAAGATTCCTGTTCTTCTTTAGACAGCTGGCTCAGAGAGTGCCTTCCCTTACAAGCCTTCCAAGATTCCCATGAGAAAGTATCCATTCCTCTCTCCCAGCACTTATCACATTCCCATGATTAATTTTTTAAAAATCTGCCTACTTTCTCTACTAGTCAGTGGGCCCCTGGAGGGTGGGCACTGAGTCCTAATTATTTTTTTGTCCTTCCTAAATACCTGCACAATGATTAGCTCAGAGTAGGCACTTCATTATTTATTAAATGGGCTAATAGAAATCTACAGGCTGAAATTGAACTTCCTCCACCACGGCTCCCCCAGCCCCTGCAGCCTGGCTCTTCCCGCTGCCTCTGGCCTGCAGCATGTTATCTGCCTCGCTCCTCTGCTGCTCTGTCACACGCTGTATTATGGAGGATCATACACTGTGGCTTATATCGTTGCAAACTTCGTGGGCAGGTCCTTTTCCGACTGGAACGGGAGCCTCTGGAGGGCAGGACGAGTGGGCCACGCTTGTTTATATCAGCACACACCCGGCACGTGGTGTTCAGCTGGTAAAGACCTCCTGATCTCACACGGGCCGGC
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ACATCATCATCTTCATCAACAATGGGCTCCTTAGTGGGCTCGGCAATCCTAGATGAAGAAAAGGGGTCAGGATTGGGCTGGCTGTACAGTGTCCTTGGCACTGTCCTTTCCATGGGACCTCTCTTCCACTTCCTTGCTTCTGCTTCCTTCTGGGCTTCCATCCTTTAAGACTTAAATTCTAAAAAGGGCTCCCAGCAGGAGAGGCATTAGGCATTAGGTAGAGAGGTCAGGTGCTCATGTCCAGAGTCAGCCTTGGGTTCCAGTCCTGGCCTCCTCATGTGTGATCTTGGGCATTGGACCTCTCTGAACCTTGCCTACTTCAACCATGTGATGAGGAGGAGGGTAACAATACCTGTCTCATAGGATTGTGCTGAAGATGAACTCAGCACAGTGCCTGGCACAGAGTAAAGACTCAGGGCCTGGGATCACCGTCAGGACTAAAATGCTTCCTCTACAGCAAGCACTCAGTAAGGGGTAGTTACTAACCTCCGAGCCTCCCACTTCCTCCAGTCTGCCCTGCCAACTCCACCTTTCCAAAACAGAGTTGTCATCAGGCCACCTCATGCCTCAAAACCTTCTGTTGTTCCCCATCAGCTGTAGGTTGAAGCCCTCCCTCTGCAGCTGTAGTTACAGCCCTGCAATCCAGCCCCACCTACCCTTCTCACTTACCTCTTGCACTAACTCCTCTGTCAGCAATTGGCATCTCCCCCTGGTTCCCAGTCCTATTGGTCATTCCCGTCTCCCAGCCTCCGCATGTGTTTCCAGTCCCTCAATGTTCTCCTCCTCCTGCCCCACCAAATGGAATCTTCCCCATTCTTAAAGACACAGCCTCTTCTTTGAAACCCTCCCTGACCTTCTGGAAGCCAGGGACTATGGTGTACTTCTCTGGTCCTCTTTAGGCCCTAAAGCAGGCAGGACTCATTCAAATGTGTTGACATCAGAGTTTGAAGCTAATGAGTCAATTTGGGTAGTCAACCTCCTGACCTGCTCTCTCCCACACAAAAGCCTCTAAAAGGTATGGCCAAGGCTGCAGAAAGGGTCTGCAGGGGCTGAGGGTGCCAAGGACAACAATTCCTGACACTGTCTCCCATAACTAGAACTGCTTGTGTATCCTGTTTCATCAGGCGTGTGTTGACACCTGTGATCTCATTCACCTCTCACAGTCCTGTGAGTAGAAAGGCAGATTCATTTCCAATAAATCAATTCCCTGTGGATCAAAACATAAAACCAAGTCCTTGGAATCTATTTACAGGTGACCACACTCAGCCTGAGAGGAGGAAAAGTTAAGAAACAAAACACTATTGGGGAAAGCTTGCTAGGAAGGGCTGCTGCTTGGCAATTCAGGCCCCTGGGTGAGGACAATAAAGGTAGGACTGGATTGCAGAGGGGAGTGAGGCAGGGGCCCACCCAGCTTCAGGAAGAGCCTGCGGAAGAATGGCAATTGCCAGCTAACCTGGCATTTGAGAAGCCCTGGTCAAAAGTCAGGGTTGGCAGCTACCCACCTTCCTCCAGGAGTGGGGGGTCGTGATCACTGCCCGCACCCCTCCACATGGCTCCCATATTACTCCCATGCTCCCAAATCTCTAATTAGCAAAGGGGCCTGCTGTGTCCTTTCTCTCATAAATACATTAGTCTATTTCCTAGTACTTTGGATACCCTGTAACCATTGTTATTTGCAATACTATCATCTAATCAAAATACACATTTGGTAATTAAATGAGAAGGATTAAATATCAGCAATTGAAATTAATAGCACTGCATTTTAAATATTTTAAAGTGGATGCTCTTCACATATTTGAATGTGCCTATTTTAACCCGATCCTCTACTTGTATTATTGGAGAAAAGCCAGGCTTTGAGAATGTAGAAAAAACATTGTGGAGTGGGGCTCCTGAGGAAAGAAATGACCATGTGGGTATAAGGTCCAGTTCTGGATGCCCTGAGCTGCCCACTGGCCCAGGGTGTGGCATGGACGTACCATTGGGAGAGGAAGAAGTGGCGCTGGACCAGCAGGGTCAGGAGGAAGTACACCACCCCTTCCACCACCATGCCAAACAGGTTCTTCCCAATCAGGTCCCAGTGGAACGGATTTGCAGAGTGCTCCTCACCTGGGCATCAACAGGAATTGAGTCCACTTCAGCCGCCCCAGCTCACCCCACAGACCTGGCCACAGCACAGGGCCCACTAGACCAGGCCTTATGTGGGAACTGAGCAAGAGCCAAACACCCGCCTCATAAGGGCTGCCCTCCATCCCTCCTGTGGCTCCCCAGCCATGGAAACAGAGGCACCCTAATCCTCTCCAGCTGGCAGGACACCTCCAGCCCAACAAGGTCCCCTCCTAGCACCAGCCCCTGCCACAGTCTGATGCAGGAGCCCCCCCGGTAACCCTCCCAGCTTTGGACCCAGGGCCCATGCTCCATGGGCCTCGGCTACCACCCACCAAACCGGGCATAGACATCTGTCACAGCCTGGCTCAGTGCAAGGTCAATGAGGCCCCGGCCCAGGCAGAAGTGGGGGAAGACAATGAGCAGCTTCCTCAGCACGGCGTTGAACCTGAGCAGCGTCTGAAACAGAGAAGTAGGACTGTTGGAAACGGGGCAAACCCCACCCCCCCTCTCTTCAGCAGGTGGGGCCCAGATGCTCTCACAGGACAGCACAGGGCAAGGCCTGCAGACAGAGAGTCCTTGCAGCCAGACTGGCCACTGGAGGGATTTGTCCAGCAGAGCATCATGGGTTTGCAATGGAGGTCATGAAGTACTTACAAGCAGTGCCTCAAGGCCAGGCCAAGGAGCTAATCAATTAAATGACCAATCAAGGACTGGGGCTCCCTGCAAGTTTCTAGTGGGCGGGAGCTTCCCCTTTGTCTAGCCAGGCAGCATCTTCTAAACATTTACTATGCTCAGTACCATGTGGGCACCGAGGCTAACTGTGAGGAACCTGCATTACTGTCCTTACCCCTCCCCTAGGTGACTCTGGGGGTGACAGCAGGAATGTGCAGAGAAGCTGCAGCCCTCCTGCTGTCCACTTAGGGAGCTCTCCCTGCAGACTCACTTTGAAACAACAGGAGCCCTCAAGGCATTTGTTAACACCAGGCCCTGAGCCATCTCCAGCTCTGCTTTTCAGCCCCTCACAGGGCAACTACCATTGTCTAGGGAGAGGAGGGTTGGAGACTCTCTCTGGGGTCTGTGTTAAGCCAGGGACTTGTTTTCAAGTGGTCGGACTTGGCATGTTGGGCAGAGCCTCCCCTGAGAAAATAGAAGGGACATCGAGGCGTACGAGGCCAGCATAGCTCCTGGCTGGGCCACTGCTGTCCATTCCATCTGGCTCCTCCCAGTCCCACAACCTCCTCCCTCTCCAGCCTCCACACCTGCGCCCACATTACCTCATCCTTCCCTGCCTACCCTTTCTCCCCACTCTTTCTGGAATCACTGTGCTCTTTGGCCTCTAGGCCTGGGCATGTGCAGGCTGTTACCTATTGCTCCAAGCAGGAAAGAATGCTCTTTTCCCTTCTGCTTTCTTAAAGATTCCTGTTCTTCTTTAGACAGCTGGCTCAGAGAGTGCCTTCCCTTACAAGCCTTCCAAGATTCCCATGAGAAAGTATCCATTCCTCTCTCCCAGCACTTATCACATTCCCATGATTAATTTTTTAAAAATCTGCCTACTTTCTCTACTAGTCAGTGGGCCCCTGGAGGGTGGGCACTGAGTCCTAATTATTTTTTTGTCCTTCCTAAATACCTGCACAATGATTAGCTCAGAGTAGGCACTTCATTATTTATTAAATGGGCTAATAGAAATCTACAGGCTGAAATTGAACTTCCTCCACCACGGCTCCCCCAGCCCCTGCAGCCTGGCTCTTCCCGCTGCCTCTGGCCTGCAGCATGTTATCTGCCTCGCTCCTCTGCTGCTCTGTCACACGCTGTATTATGGAGGATCATACACTGTGGCTTATATCGTTGCAAACTTCGTGGGCAGGTCCTTTTCCGACTGGAACGGGAGCCTCTGGAGGGCAGGACGAGTGGGCCACGCTTGTTTATATCAGCACACACCCGGCACGTGGTGTTCAGCTGGTAAAGACCTCCTGATCTCACACGGGCCGGC
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Task1_train_1140
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Given a variant located on Chromosome 1 and affecting ABCA4 (ATP binding cassette subfamily A member 4), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; not provided
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GTGCCTGGCACAGAGTAAAGACTCAGGGCCTGGGATCACCGTCAGGACTAAAATGCTTCCTCTACAGCAAGCACTCAGTAAGGGGTAGTTACTAACCTCCGAGCCTCCCACTTCCTCCAGTCTGCCCTGCCAACTCCACCTTTCCAAAACAGAGTTGTCATCAGGCCACCTCATGCCTCAAAACCTTCTGTTGTTCCCCATCAGCTGTAGGTTGAAGCCCTCCCTCTGCAGCTGTAGTTACAGCCCTGCAATCCAGCCCCACCTACCCTTCTCACTTACCTCTTGCACTAACTCCTCTGTCAGCAATTGGCATCTCCCCCTGGTTCCCAGTCCTATTGGTCATTCCCGTCTCCCAGCCTCCGCATGTGTTTCCAGTCCCTCAATGTTCTCCTCCTCCTGCCCCACCAAATGGAATCTTCCCCATTCTTAAAGACACAGCCTCTTCTTTGAAACCCTCCCTGACCTTCTGGAAGCCAGGGACTATGGTGTACTTCTCTGGTCCTCTTTAGGCCCTAAAGCAGGCAGGACTCATTCAAATGTGTTGACATCAGAGTTTGAAGCTAATGAGTCAATTTGGGTAGTCAACCTCCTGACCTGCTCTCTCCCACACAAAAGCCTCTAAAAGGTATGGCCAAGGCTGCAGAAAGGGTCTGCAGGGGCTGAGGGTGCCAAGGACAACAATTCCTGACACTGTCTCCCATAACTAGAACTGCTTGTGTATCCTGTTTCATCAGGCGTGTGTTGACACCTGTGATCTCATTCACCTCTCACAGTCCTGTGAGTAGAAAGGCAGATTCATTTCCAATAAATCAATTCCCTGTGGATCAAAACATAAAACCAAGTCCTTGGAATCTATTTACAGGTGACCACACTCAGCCTGAGAGGAGGAAAAGTTAAGAAACAAAACACTATTGGGGAAAGCTTGCTAGGAAGGGCTGCTGCTTGGCAATTCAGGCCCCTGGGTGAGGACAATAAAGGTAGGACTGGATTGCAGAGGGGAGTGAGGCAGGGGCCCACCCAGCTTCAGGAAGAGCCTGCGGAAGAATGGCAATTGCCAGCTAACCTGGCATTTGAGAAGCCCTGGTCAAAAGTCAGGGTTGGCAGCTACCCACCTTCCTCCAGGAGTGGGGGGTCGTGATCACTGCCCGCACCCCTCCACATGGCTCCCATATTACTCCCATGCTCCCAAATCTCTAATTAGCAAAGGGGCCTGCTGTGTCCTTTCTCTCATAAATACATTAGTCTATTTCCTAGTACTTTGGATACCCTGTAACCATTGTTATTTGCAATACTATCATCTAATCAAAATACACATTTGGTAATTAAATGAGAAGGATTAAATATCAGCAATTGAAATTAATAGCACTGCATTTTAAATATTTTAAAGTGGATGCTCTTCACATATTTGAATGTGCCTATTTTAACCCGATCCTCTACTTGTATTATTGGAGAAAAGCCAGGCTTTGAGAATGTAGAAAAAACATTGTGGAGTGGGGCTCCTGAGGAAAGAAATGACCATGTGGGTATAAGGTCCAGTTCTGGATGCCCTGAGCTGCCCACTGGCCCAGGGTGTGGCATGGACGTACCATTGGGAGAGGAAGAAGTGGCGCTGGACCAGCAGGGTCAGGAGGAAGTACACCACCCCTTCCACCACCATGGCAAACAGGTTCTTCCCAATCAGGTCCCAGTGGAACGGATTTGCAGAGTGCTCCTCACCTGGGCATCAACAGGAATTGAGTCCACTTCAGCCGCCCCAGCTCACCCCACAGACCTGGCCACAGCACAGGGCCCACTAGACCAGGCCTTATGTGGGAACTGAGCAAGAGCCAAACACCCGCCTCATAAGGGCTGCCCTCCATCCCTCCTGTGGCTCCCCAGCCATGGAAACAGAGGCACCCTAATCCTCTCCAGCTGGCAGGACACCTCCAGCCCAACAAGGTCCCCTCCTAGCACCAGCCCCTGCCACAGTCTGATGCAGGAGCCCCCCCGGTAACCCTCCCAGCTTTGGACCCAGGGCCCATGCTCCATGGGCCTCGGCTACCACCCACCAAACCGGGCATAGACATCTGTCACAGCCTGGCTCAGTGCAAGGTCAATGAGGCCCCGGCCCAGGCAGAAGTGGGGGAAGACAATGAGCAGCTTCCTCAGCACGGCGTTGAACCTGAGCAGCGTCTGAAACAGAGAAGTAGGACTGTTGGAAACGGGGCAAACCCCACCCCCCCTCTCTTCAGCAGGTGGGGCCCAGATGCTCTCACAGGACAGCACAGGGCAAGGCCTGCAGACAGAGAGTCCTTGCAGCCAGACTGGCCACTGGAGGGATTTGTCCAGCAGAGCATCATGGGTTTGCAATGGAGGTCATGAAGTACTTACAAGCAGTGCCTCAAGGCCAGGCCAAGGAGCTAATCAATTAAATGACCAATCAAGGACTGGGGCTCCCTGCAAGTTTCTAGTGGGCGGGAGCTTCCCCTTTGTCTAGCCAGGCAGCATCTTCTAAACATTTACTATGCTCAGTACCATGTGGGCACCGAGGCTAACTGTGAGGAACCTGCATTACTGTCCTTACCCCTCCCCTAGGTGACTCTGGGGGTGACAGCAGGAATGTGCAGAGAAGCTGCAGCCCTCCTGCTGTCCACTTAGGGAGCTCTCCCTGCAGACTCACTTTGAAACAACAGGAGCCCTCAAGGCATTTGTTAACACCAGGCCCTGAGCCATCTCCAGCTCTGCTTTTCAGCCCCTCACAGGGCAACTACCATTGTCTAGGGAGAGGAGGGTTGGAGACTCTCTCTGGGGTCTGTGTTAAGCCAGGGACTTGTTTTCAAGTGGTCGGACTTGGCATGTTGGGCAGAGCCTCCCCTGAGAAAATAGAAGGGACATCGAGGCGTACGAGGCCAGCATAGCTCCTGGCTGGGCCACTGCTGTCCATTCCATCTGGCTCCTCCCAGTCCCACAACCTCCTCCCTCTCCAGCCTCCACACCTGCGCCCACATTACCTCATCCTTCCCTGCCTACCCTTTCTCCCCACTCTTTCTGGAATCACTGTGCTCTTTGGCCTCTAGGCCTGGGCATGTGCAGGCTGTTACCTATTGCTCCAAGCAGGAAAGAATGCTCTTTTCCCTTCTGCTTTCTTAAAGATTCCTGTTCTTCTTTAGACAGCTGGCTCAGAGAGTGCCTTCCCTTACAAGCCTTCCAAGATTCCCATGAGAAAGTATCCATTCCTCTCTCCCAGCACTTATCACATTCCCATGATTAATTTTTTAAAAATCTGCCTACTTTCTCTACTAGTCAGTGGGCCCCTGGAGGGTGGGCACTGAGTCCTAATTATTTTTTTGTCCTTCCTAAATACCTGCACAATGATTAGCTCAGAGTAGGCACTTCATTATTTATTAAATGGGCTAATAGAAATCTACAGGCTGAAATTGAACTTCCTCCACCACGGCTCCCCCAGCCCCTGCAGCCTGGCTCTTCCCGCTGCCTCTGGCCTGCAGCATGTTATCTGCCTCGCTCCTCTGCTGCTCTGTCACACGCTGTATTATGGAGGATCATACACTGTGGCTTATATCGTTGCAAACTTCGTGGGCAGGTCCTTTTCCGACTGGAACGGGAGCCTCTGGAGGGCAGGACGAGTGGGCCACGCTTGTTTATATCAGCACACACCCGGCACGTGGTGTTCAGCTGGTAAAGACCTCCTGATCTCACACGGGCCGGCAGCTGCTGGGAGCTGGGGAGCTTCCTGTGGGATACTGGGGGTTTCCATAGCAGCTGTGTATCGGATAATTTACATGAAAATACCAGGTTTTTGAAGGCGGGTGCTTAGCAAATGTTGGCTAAATGGGTGCAGCCTCAGAGGGGAAAATGTTCTGAGTTGCTTTAAGCTGGCTATTTAATTATTCTGAAGGAAAACTGTCTTAAGACTTAGTGGGCTGTGAGCCTGTGGCAAACACAGCTCTGCAAAGCAGCACTTTCAGTCACCTGGGTGCTCTGGCCATCTGCTGGGGCTGTGTTCTTATCCCCCCGCCTTTCCAGAGTCTGACTCTGACATGCTGAATTTCTTATCATTCATGGGACAGATGAGGCTTCGTTACTTGCCTAGCAGCCA
|
GTGCCTGGCACAGAGTAAAGACTCAGGGCCTGGGATCACCGTCAGGACTAAAATGCTTCCTCTACAGCAAGCACTCAGTAAGGGGTAGTTACTAACCTCCGAGCCTCCCACTTCCTCCAGTCTGCCCTGCCAACTCCACCTTTCCAAAACAGAGTTGTCATCAGGCCACCTCATGCCTCAAAACCTTCTGTTGTTCCCCATCAGCTGTAGGTTGAAGCCCTCCCTCTGCAGCTGTAGTTACAGCCCTGCAATCCAGCCCCACCTACCCTTCTCACTTACCTCTTGCACTAACTCCTCTGTCAGCAATTGGCATCTCCCCCTGGTTCCCAGTCCTATTGGTCATTCCCGTCTCCCAGCCTCCGCATGTGTTTCCAGTCCCTCAATGTTCTCCTCCTCCTGCCCCACCAAATGGAATCTTCCCCATTCTTAAAGACACAGCCTCTTCTTTGAAACCCTCCCTGACCTTCTGGAAGCCAGGGACTATGGTGTACTTCTCTGGTCCTCTTTAGGCCCTAAAGCAGGCAGGACTCATTCAAATGTGTTGACATCAGAGTTTGAAGCTAATGAGTCAATTTGGGTAGTCAACCTCCTGACCTGCTCTCTCCCACACAAAAGCCTCTAAAAGGTATGGCCAAGGCTGCAGAAAGGGTCTGCAGGGGCTGAGGGTGCCAAGGACAACAATTCCTGACACTGTCTCCCATAACTAGAACTGCTTGTGTATCCTGTTTCATCAGGCGTGTGTTGACACCTGTGATCTCATTCACCTCTCACAGTCCTGTGAGTAGAAAGGCAGATTCATTTCCAATAAATCAATTCCCTGTGGATCAAAACATAAAACCAAGTCCTTGGAATCTATTTACAGGTGACCACACTCAGCCTGAGAGGAGGAAAAGTTAAGAAACAAAACACTATTGGGGAAAGCTTGCTAGGAAGGGCTGCTGCTTGGCAATTCAGGCCCCTGGGTGAGGACAATAAAGGTAGGACTGGATTGCAGAGGGGAGTGAGGCAGGGGCCCACCCAGCTTCAGGAAGAGCCTGCGGAAGAATGGCAATTGCCAGCTAACCTGGCATTTGAGAAGCCCTGGTCAAAAGTCAGGGTTGGCAGCTACCCACCTTCCTCCAGGAGTGGGGGGTCGTGATCACTGCCCGCACCCCTCCACATGGCTCCCATATTACTCCCATGCTCCCAAATCTCTAATTAGCAAAGGGGCCTGCTGTGTCCTTTCTCTCATAAATACATTAGTCTATTTCCTAGTACTTTGGATACCCTGTAACCATTGTTATTTGCAATACTATCATCTAATCAAAATACACATTTGGTAATTAAATGAGAAGGATTAAATATCAGCAATTGAAATTAATAGCACTGCATTTTAAATATTTTAAAGTGGATGCTCTTCACATATTTGAATGTGCCTATTTTAACCCGATCCTCTACTTGTATTATTGGAGAAAAGCCAGGCTTTGAGAATGTAGAAAAAACATTGTGGAGTGGGGCTCCTGAGGAAAGAAATGACCATGTGGGTATAAGGTCCAGTTCTGGATGCCCTGAGCTGCCCACTGGCCCAGGGTGTGGCATGGACGTACCATTGGGAGAGGAAGAAGTGGCGCTGGACCAGCAGGGTCAGGAGGAAGTACACCACCCCTTCCACCACCATGGCAAACAGGTTCTTCCCAATCAGGTCCCAGTGGAACGGATTTGCAGAGTGCTCCTCACCTGGGCATCAACAGGAATTGAGTCCACTTCAGCCGCCCCAGCTCACCCCACAGACCTGGCCACAGCACAGGGCCCACTAGACCAGGCCTTATGTGGGAACTGAGCAAGAGCCAAACACCCGCCTCATAAGGGCTGCCCTCCATCCCTCCTGTGGCTCCCCAGCCATGGAAACAGAGGCACCCTAATCCTCTCCAGCTGGCAGGACACCTCCAGCCCAACAAGGTCCCCTCCTAGCACCAGCCCCTGCCACAGTCTGATGCAGGAGCCCCCCCGGTAACCCTCCCAGCTTTGGACCCAGGGCCCATGCTCCATGGGCCTCGGCTACCACCCACGAAACCGGGCATAGACATCTGTCACAGCCTGGCTCAGTGCAAGGTCAATGAGGCCCCGGCCCAGGCAGAAGTGGGGGAAGACAATGAGCAGCTTCCTCAGCACGGCGTTGAACCTGAGCAGCGTCTGAAACAGAGAAGTAGGACTGTTGGAAACGGGGCAAACCCCACCCCCCCTCTCTTCAGCAGGTGGGGCCCAGATGCTCTCACAGGACAGCACAGGGCAAGGCCTGCAGACAGAGAGTCCTTGCAGCCAGACTGGCCACTGGAGGGATTTGTCCAGCAGAGCATCATGGGTTTGCAATGGAGGTCATGAAGTACTTACAAGCAGTGCCTCAAGGCCAGGCCAAGGAGCTAATCAATTAAATGACCAATCAAGGACTGGGGCTCCCTGCAAGTTTCTAGTGGGCGGGAGCTTCCCCTTTGTCTAGCCAGGCAGCATCTTCTAAACATTTACTATGCTCAGTACCATGTGGGCACCGAGGCTAACTGTGAGGAACCTGCATTACTGTCCTTACCCCTCCCCTAGGTGACTCTGGGGGTGACAGCAGGAATGTGCAGAGAAGCTGCAGCCCTCCTGCTGTCCACTTAGGGAGCTCTCCCTGCAGACTCACTTTGAAACAACAGGAGCCCTCAAGGCATTTGTTAACACCAGGCCCTGAGCCATCTCCAGCTCTGCTTTTCAGCCCCTCACAGGGCAACTACCATTGTCTAGGGAGAGGAGGGTTGGAGACTCTCTCTGGGGTCTGTGTTAAGCCAGGGACTTGTTTTCAAGTGGTCGGACTTGGCATGTTGGGCAGAGCCTCCCCTGAGAAAATAGAAGGGACATCGAGGCGTACGAGGCCAGCATAGCTCCTGGCTGGGCCACTGCTGTCCATTCCATCTGGCTCCTCCCAGTCCCACAACCTCCTCCCTCTCCAGCCTCCACACCTGCGCCCACATTACCTCATCCTTCCCTGCCTACCCTTTCTCCCCACTCTTTCTGGAATCACTGTGCTCTTTGGCCTCTAGGCCTGGGCATGTGCAGGCTGTTACCTATTGCTCCAAGCAGGAAAGAATGCTCTTTTCCCTTCTGCTTTCTTAAAGATTCCTGTTCTTCTTTAGACAGCTGGCTCAGAGAGTGCCTTCCCTTACAAGCCTTCCAAGATTCCCATGAGAAAGTATCCATTCCTCTCTCCCAGCACTTATCACATTCCCATGATTAATTTTTTAAAAATCTGCCTACTTTCTCTACTAGTCAGTGGGCCCCTGGAGGGTGGGCACTGAGTCCTAATTATTTTTTTGTCCTTCCTAAATACCTGCACAATGATTAGCTCAGAGTAGGCACTTCATTATTTATTAAATGGGCTAATAGAAATCTACAGGCTGAAATTGAACTTCCTCCACCACGGCTCCCCCAGCCCCTGCAGCCTGGCTCTTCCCGCTGCCTCTGGCCTGCAGCATGTTATCTGCCTCGCTCCTCTGCTGCTCTGTCACACGCTGTATTATGGAGGATCATACACTGTGGCTTATATCGTTGCAAACTTCGTGGGCAGGTCCTTTTCCGACTGGAACGGGAGCCTCTGGAGGGCAGGACGAGTGGGCCACGCTTGTTTATATCAGCACACACCCGGCACGTGGTGTTCAGCTGGTAAAGACCTCCTGATCTCACACGGGCCGGCAGCTGCTGGGAGCTGGGGAGCTTCCTGTGGGATACTGGGGGTTTCCATAGCAGCTGTGTATCGGATAATTTACATGAAAATACCAGGTTTTTGAAGGCGGGTGCTTAGCAAATGTTGGCTAAATGGGTGCAGCCTCAGAGGGGAAAATGTTCTGAGTTGCTTTAAGCTGGCTATTTAATTATTCTGAAGGAAAACTGTCTTAAGACTTAGTGGGCTGTGAGCCTGTGGCAAACACAGCTCTGCAAAGCAGCACTTTCAGTCACCTGGGTGCTCTGGCCATCTGCTGGGGCTGTGTTCTTATCCCCCCGCCTTTCCAGAGTCTGACTCTGACATGCTGAATTTCTTATCATTCATGGGACAGATGAGGCTTCGTTACTTGCCTAGCAGCCA
|
Task1_train_1141
|
A genetic alteration is present in ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved?
|
Pathogenic; not provided
|
CAGTAAGGGGTAGTTACTAACCTCCGAGCCTCCCACTTCCTCCAGTCTGCCCTGCCAACTCCACCTTTCCAAAACAGAGTTGTCATCAGGCCACCTCATGCCTCAAAACCTTCTGTTGTTCCCCATCAGCTGTAGGTTGAAGCCCTCCCTCTGCAGCTGTAGTTACAGCCCTGCAATCCAGCCCCACCTACCCTTCTCACTTACCTCTTGCACTAACTCCTCTGTCAGCAATTGGCATCTCCCCCTGGTTCCCAGTCCTATTGGTCATTCCCGTCTCCCAGCCTCCGCATGTGTTTCCAGTCCCTCAATGTTCTCCTCCTCCTGCCCCACCAAATGGAATCTTCCCCATTCTTAAAGACACAGCCTCTTCTTTGAAACCCTCCCTGACCTTCTGGAAGCCAGGGACTATGGTGTACTTCTCTGGTCCTCTTTAGGCCCTAAAGCAGGCAGGACTCATTCAAATGTGTTGACATCAGAGTTTGAAGCTAATGAGTCAATTTGGGTAGTCAACCTCCTGACCTGCTCTCTCCCACACAAAAGCCTCTAAAAGGTATGGCCAAGGCTGCAGAAAGGGTCTGCAGGGGCTGAGGGTGCCAAGGACAACAATTCCTGACACTGTCTCCCATAACTAGAACTGCTTGTGTATCCTGTTTCATCAGGCGTGTGTTGACACCTGTGATCTCATTCACCTCTCACAGTCCTGTGAGTAGAAAGGCAGATTCATTTCCAATAAATCAATTCCCTGTGGATCAAAACATAAAACCAAGTCCTTGGAATCTATTTACAGGTGACCACACTCAGCCTGAGAGGAGGAAAAGTTAAGAAACAAAACACTATTGGGGAAAGCTTGCTAGGAAGGGCTGCTGCTTGGCAATTCAGGCCCCTGGGTGAGGACAATAAAGGTAGGACTGGATTGCAGAGGGGAGTGAGGCAGGGGCCCACCCAGCTTCAGGAAGAGCCTGCGGAAGAATGGCAATTGCCAGCTAACCTGGCATTTGAGAAGCCCTGGTCAAAAGTCAGGGTTGGCAGCTACCCACCTTCCTCCAGGAGTGGGGGGTCGTGATCACTGCCCGCACCCCTCCACATGGCTCCCATATTACTCCCATGCTCCCAAATCTCTAATTAGCAAAGGGGCCTGCTGTGTCCTTTCTCTCATAAATACATTAGTCTATTTCCTAGTACTTTGGATACCCTGTAACCATTGTTATTTGCAATACTATCATCTAATCAAAATACACATTTGGTAATTAAATGAGAAGGATTAAATATCAGCAATTGAAATTAATAGCACTGCATTTTAAATATTTTAAAGTGGATGCTCTTCACATATTTGAATGTGCCTATTTTAACCCGATCCTCTACTTGTATTATTGGAGAAAAGCCAGGCTTTGAGAATGTAGAAAAAACATTGTGGAGTGGGGCTCCTGAGGAAAGAAATGACCATGTGGGTATAAGGTCCAGTTCTGGATGCCCTGAGCTGCCCACTGGCCCAGGGTGTGGCATGGACGTACCATTGGGAGAGGAAGAAGTGGCGCTGGACCAGCAGGGTCAGGAGGAAGTACACCACCCCTTCCACCACCATGGCAAACAGGTTCTTCCCAATCAGGTCCCAGTGGAACGGATTTGCAGAGTGCTCCTCACCTGGGCATCAACAGGAATTGAGTCCACTTCAGCCGCCCCAGCTCACCCCACAGACCTGGCCACAGCACAGGGCCCACTAGACCAGGCCTTATGTGGGAACTGAGCAAGAGCCAAACACCCGCCTCATAAGGGCTGCCCTCCATCCCTCCTGTGGCTCCCCAGCCATGGAAACAGAGGCACCCTAATCCTCTCCAGCTGGCAGGACACCTCCAGCCCAACAAGGTCCCCTCCTAGCACCAGCCCCTGCCACAGTCTGATGCAGGAGCCCCCCCGGTAACCCTCCCAGCTTTGGACCCAGGGCCCATGCTCCATGGGCCTCGGCTACCACCCACCAAACCGGGCATAGACATCTGTCACAGCCTGGCTCAGTGCAAGGTCAATGAGGCCCCGGCCCAGGCAGAAGTGGGGGAAGACAATGAGCAGCTTCCTCAGCACGGCGTTGAACCTGAGCAGCGTCTGAAACAGAGAAGTAGGACTGTTGGAAACGGGGCAAACCCCACCCCCCCTCTCTTCAGCAGGTGGGGCCCAGATGCTCTCACAGGACAGCACAGGGCAAGGCCTGCAGACAGAGAGTCCTTGCAGCCAGACTGGCCACTGGAGGGATTTGTCCAGCAGAGCATCATGGGTTTGCAATGGAGGTCATGAAGTACTTACAAGCAGTGCCTCAAGGCCAGGCCAAGGAGCTAATCAATTAAATGACCAATCAAGGACTGGGGCTCCCTGCAAGTTTCTAGTGGGCGGGAGCTTCCCCTTTGTCTAGCCAGGCAGCATCTTCTAAACATTTACTATGCTCAGTACCATGTGGGCACCGAGGCTAACTGTGAGGAACCTGCATTACTGTCCTTACCCCTCCCCTAGGTGACTCTGGGGGTGACAGCAGGAATGTGCAGAGAAGCTGCAGCCCTCCTGCTGTCCACTTAGGGAGCTCTCCCTGCAGACTCACTTTGAAACAACAGGAGCCCTCAAGGCATTTGTTAACACCAGGCCCTGAGCCATCTCCAGCTCTGCTTTTCAGCCCCTCACAGGGCAACTACCATTGTCTAGGGAGAGGAGGGTTGGAGACTCTCTCTGGGGTCTGTGTTAAGCCAGGGACTTGTTTTCAAGTGGTCGGACTTGGCATGTTGGGCAGAGCCTCCCCTGAGAAAATAGAAGGGACATCGAGGCGTACGAGGCCAGCATAGCTCCTGGCTGGGCCACTGCTGTCCATTCCATCTGGCTCCTCCCAGTCCCACAACCTCCTCCCTCTCCAGCCTCCACACCTGCGCCCACATTACCTCATCCTTCCCTGCCTACCCTTTCTCCCCACTCTTTCTGGAATCACTGTGCTCTTTGGCCTCTAGGCCTGGGCATGTGCAGGCTGTTACCTATTGCTCCAAGCAGGAAAGAATGCTCTTTTCCCTTCTGCTTTCTTAAAGATTCCTGTTCTTCTTTAGACAGCTGGCTCAGAGAGTGCCTTCCCTTACAAGCCTTCCAAGATTCCCATGAGAAAGTATCCATTCCTCTCTCCCAGCACTTATCACATTCCCATGATTAATTTTTTAAAAATCTGCCTACTTTCTCTACTAGTCAGTGGGCCCCTGGAGGGTGGGCACTGAGTCCTAATTATTTTTTTGTCCTTCCTAAATACCTGCACAATGATTAGCTCAGAGTAGGCACTTCATTATTTATTAAATGGGCTAATAGAAATCTACAGGCTGAAATTGAACTTCCTCCACCACGGCTCCCCCAGCCCCTGCAGCCTGGCTCTTCCCGCTGCCTCTGGCCTGCAGCATGTTATCTGCCTCGCTCCTCTGCTGCTCTGTCACACGCTGTATTATGGAGGATCATACACTGTGGCTTATATCGTTGCAAACTTCGTGGGCAGGTCCTTTTCCGACTGGAACGGGAGCCTCTGGAGGGCAGGACGAGTGGGCCACGCTTGTTTATATCAGCACACACCCGGCACGTGGTGTTCAGCTGGTAAAGACCTCCTGATCTCACACGGGCCGGCAGCTGCTGGGAGCTGGGGAGCTTCCTGTGGGATACTGGGGGTTTCCATAGCAGCTGTGTATCGGATAATTTACATGAAAATACCAGGTTTTTGAAGGCGGGTGCTTAGCAAATGTTGGCTAAATGGGTGCAGCCTCAGAGGGGAAAATGTTCTGAGTTGCTTTAAGCTGGCTATTTAATTATTCTGAAGGAAAACTGTCTTAAGACTTAGTGGGCTGTGAGCCTGTGGCAAACACAGCTCTGCAAAGCAGCACTTTCAGTCACCTGGGTGCTCTGGCCATCTGCTGGGGCTGTGTTCTTATCCCCCCGCCTTTCCAGAGTCTGACTCTGACATGCTGAATTTCTTATCATTCATGGGACAGATGAGGCTTCGTTACTTGCCTAGCAGCCACGAAACCCTAACAAGATCTGGAAAGAGTCAGTCTCAGGGGTCCACGGGTCTGGGCGGTTCATGGTGGGGCCTCCG
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CAGTAAGGGGTAGTTACTAACCTCCGAGCCTCCCACTTCCTCCAGTCTGCCCTGCCAACTCCACCTTTCCAAAACAGAGTTGTCATCAGGCCACCTCATGCCTCAAAACCTTCTGTTGTTCCCCATCAGCTGTAGGTTGAAGCCCTCCCTCTGCAGCTGTAGTTACAGCCCTGCAATCCAGCCCCACCTACCCTTCTCACTTACCTCTTGCACTAACTCCTCTGTCAGCAATTGGCATCTCCCCCTGGTTCCCAGTCCTATTGGTCATTCCCGTCTCCCAGCCTCCGCATGTGTTTCCAGTCCCTCAATGTTCTCCTCCTCCTGCCCCACCAAATGGAATCTTCCCCATTCTTAAAGACACAGCCTCTTCTTTGAAACCCTCCCTGACCTTCTGGAAGCCAGGGACTATGGTGTACTTCTCTGGTCCTCTTTAGGCCCTAAAGCAGGCAGGACTCATTCAAATGTGTTGACATCAGAGTTTGAAGCTAATGAGTCAATTTGGGTAGTCAACCTCCTGACCTGCTCTCTCCCACACAAAAGCCTCTAAAAGGTATGGCCAAGGCTGCAGAAAGGGTCTGCAGGGGCTGAGGGTGCCAAGGACAACAATTCCTGACACTGTCTCCCATAACTAGAACTGCTTGTGTATCCTGTTTCATCAGGCGTGTGTTGACACCTGTGATCTCATTCACCTCTCACAGTCCTGTGAGTAGAAAGGCAGATTCATTTCCAATAAATCAATTCCCTGTGGATCAAAACATAAAACCAAGTCCTTGGAATCTATTTACAGGTGACCACACTCAGCCTGAGAGGAGGAAAAGTTAAGAAACAAAACACTATTGGGGAAAGCTTGCTAGGAAGGGCTGCTGCTTGGCAATTCAGGCCCCTGGGTGAGGACAATAAAGGTAGGACTGGATTGCAGAGGGGAGTGAGGCAGGGGCCCACCCAGCTTCAGGAAGAGCCTGCGGAAGAATGGCAATTGCCAGCTAACCTGGCATTTGAGAAGCCCTGGTCAAAAGTCAGGGTTGGCAGCTACCCACCTTCCTCCAGGAGTGGGGGGTCGTGATCACTGCCCGCACCCCTCCACATGGCTCCCATATTACTCCCATGCTCCCAAATCTCTAATTAGCAAAGGGGCCTGCTGTGTCCTTTCTCTCATAAATACATTAGTCTATTTCCTAGTACTTTGGATACCCTGTAACCATTGTTATTTGCAATACTATCATCTAATCAAAATACACATTTGGTAATTAAATGAGAAGGATTAAATATCAGCAATTGAAATTAATAGCACTGCATTTTAAATATTTTAAAGTGGATGCTCTTCACATATTTGAATGTGCCTATTTTAACCCGATCCTCTACTTGTATTATTGGAGAAAAGCCAGGCTTTGAGAATGTAGAAAAAACATTGTGGAGTGGGGCTCCTGAGGAAAGAAATGACCATGTGGGTATAAGGTCCAGTTCTGGATGCCCTGAGCTGCCCACTGGCCCAGGGTGTGGCATGGACGTACCATTGGGAGAGGAAGAAGTGGCGCTGGACCAGCAGGGTCAGGAGGAAGTACACCACCCCTTCCACCACCATGGCAAACAGGTTCTTCCCAATCAGGTCCCAGTGGAACGGATTTGCAGAGTGCTCCTCACCTGGGCATCAACAGGAATTGAGTCCACTTCAGCCGCCCCAGCTCACCCCACAGACCTGGCCACAGCACAGGGCCCACTAGACCAGGCCTTATGTGGGAACTGAGCAAGAGCCAAACACCCGCCTCATAAGGGCTGCCCTCCATCCCTCCTGTGGCTCCCCAGCCATGGAAACAGAGGCACCCTAATCCTCTCCAGCTGGCAGGACACCTCCAGCCCAACAAGGTCCCCTCCTAGCACCAGCCCCTGCCACAGTCTGATGCAGGAGCCCCCCCGGTAACCCTCCCAGCTTTGGACCCAGGGCCCATGCTCCATGGGCCTCGGCTACCACCCACCAAACCGGGCATAGACATCTGTCACAGCCTGGCTCAGTGCAAGGTCAATGAGGCCCCGGCCCAGGCAGAAGTGGGAGAAGACAATGAGCAGCTTCCTCAGCACGGCGTTGAACCTGAGCAGCGTCTGAAACAGAGAAGTAGGACTGTTGGAAACGGGGCAAACCCCACCCCCCCTCTCTTCAGCAGGTGGGGCCCAGATGCTCTCACAGGACAGCACAGGGCAAGGCCTGCAGACAGAGAGTCCTTGCAGCCAGACTGGCCACTGGAGGGATTTGTCCAGCAGAGCATCATGGGTTTGCAATGGAGGTCATGAAGTACTTACAAGCAGTGCCTCAAGGCCAGGCCAAGGAGCTAATCAATTAAATGACCAATCAAGGACTGGGGCTCCCTGCAAGTTTCTAGTGGGCGGGAGCTTCCCCTTTGTCTAGCCAGGCAGCATCTTCTAAACATTTACTATGCTCAGTACCATGTGGGCACCGAGGCTAACTGTGAGGAACCTGCATTACTGTCCTTACCCCTCCCCTAGGTGACTCTGGGGGTGACAGCAGGAATGTGCAGAGAAGCTGCAGCCCTCCTGCTGTCCACTTAGGGAGCTCTCCCTGCAGACTCACTTTGAAACAACAGGAGCCCTCAAGGCATTTGTTAACACCAGGCCCTGAGCCATCTCCAGCTCTGCTTTTCAGCCCCTCACAGGGCAACTACCATTGTCTAGGGAGAGGAGGGTTGGAGACTCTCTCTGGGGTCTGTGTTAAGCCAGGGACTTGTTTTCAAGTGGTCGGACTTGGCATGTTGGGCAGAGCCTCCCCTGAGAAAATAGAAGGGACATCGAGGCGTACGAGGCCAGCATAGCTCCTGGCTGGGCCACTGCTGTCCATTCCATCTGGCTCCTCCCAGTCCCACAACCTCCTCCCTCTCCAGCCTCCACACCTGCGCCCACATTACCTCATCCTTCCCTGCCTACCCTTTCTCCCCACTCTTTCTGGAATCACTGTGCTCTTTGGCCTCTAGGCCTGGGCATGTGCAGGCTGTTACCTATTGCTCCAAGCAGGAAAGAATGCTCTTTTCCCTTCTGCTTTCTTAAAGATTCCTGTTCTTCTTTAGACAGCTGGCTCAGAGAGTGCCTTCCCTTACAAGCCTTCCAAGATTCCCATGAGAAAGTATCCATTCCTCTCTCCCAGCACTTATCACATTCCCATGATTAATTTTTTAAAAATCTGCCTACTTTCTCTACTAGTCAGTGGGCCCCTGGAGGGTGGGCACTGAGTCCTAATTATTTTTTTGTCCTTCCTAAATACCTGCACAATGATTAGCTCAGAGTAGGCACTTCATTATTTATTAAATGGGCTAATAGAAATCTACAGGCTGAAATTGAACTTCCTCCACCACGGCTCCCCCAGCCCCTGCAGCCTGGCTCTTCCCGCTGCCTCTGGCCTGCAGCATGTTATCTGCCTCGCTCCTCTGCTGCTCTGTCACACGCTGTATTATGGAGGATCATACACTGTGGCTTATATCGTTGCAAACTTCGTGGGCAGGTCCTTTTCCGACTGGAACGGGAGCCTCTGGAGGGCAGGACGAGTGGGCCACGCTTGTTTATATCAGCACACACCCGGCACGTGGTGTTCAGCTGGTAAAGACCTCCTGATCTCACACGGGCCGGCAGCTGCTGGGAGCTGGGGAGCTTCCTGTGGGATACTGGGGGTTTCCATAGCAGCTGTGTATCGGATAATTTACATGAAAATACCAGGTTTTTGAAGGCGGGTGCTTAGCAAATGTTGGCTAAATGGGTGCAGCCTCAGAGGGGAAAATGTTCTGAGTTGCTTTAAGCTGGCTATTTAATTATTCTGAAGGAAAACTGTCTTAAGACTTAGTGGGCTGTGAGCCTGTGGCAAACACAGCTCTGCAAAGCAGCACTTTCAGTCACCTGGGTGCTCTGGCCATCTGCTGGGGCTGTGTTCTTATCCCCCCGCCTTTCCAGAGTCTGACTCTGACATGCTGAATTTCTTATCATTCATGGGACAGATGAGGCTTCGTTACTTGCCTAGCAGCCACGAAACCCTAACAAGATCTGGAAAGAGTCAGTCTCAGGGGTCCACGGGTCTGGGCGGTTCATGGTGGGGCCTCCG
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Task1_train_1142
|
A variant found in Chromosome 1 affects ABCA4 (ATP binding cassette subfamily A member 4). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
|
Pathogenic; not provided
|
TTTTGTCCTTCCTAAATACCTGCACAATGATTAGCTCAGAGTAGGCACTTCATTATTTATTAAATGGGCTAATAGAAATCTACAGGCTGAAATTGAACTTCCTCCACCACGGCTCCCCCAGCCCCTGCAGCCTGGCTCTTCCCGCTGCCTCTGGCCTGCAGCATGTTATCTGCCTCGCTCCTCTGCTGCTCTGTCACACGCTGTATTATGGAGGATCATACACTGTGGCTTATATCGTTGCAAACTTCGTGGGCAGGTCCTTTTCCGACTGGAACGGGAGCCTCTGGAGGGCAGGACGAGTGGGCCACGCTTGTTTATATCAGCACACACCCGGCACGTGGTGTTCAGCTGGTAAAGACCTCCTGATCTCACACGGGCCGGCAGCTGCTGGGAGCTGGGGAGCTTCCTGTGGGATACTGGGGGTTTCCATAGCAGCTGTGTATCGGATAATTTACATGAAAATACCAGGTTTTTGAAGGCGGGTGCTTAGCAAATGTTGGCTAAATGGGTGCAGCCTCAGAGGGGAAAATGTTCTGAGTTGCTTTAAGCTGGCTATTTAATTATTCTGAAGGAAAACTGTCTTAAGACTTAGTGGGCTGTGAGCCTGTGGCAAACACAGCTCTGCAAAGCAGCACTTTCAGTCACCTGGGTGCTCTGGCCATCTGCTGGGGCTGTGTTCTTATCCCCCCGCCTTTCCAGAGTCTGACTCTGACATGCTGAATTTCTTATCATTCATGGGACAGATGAGGCTTCGTTACTTGCCTAGCAGCCACGAAACCCTAACAAGATCTGGAAAGAGTCAGTCTCAGGGGTCCACGGGTCTGGGCGGTTCATGGTGGGGCCTCCGCACAGATTTGTCCTGTGTTCCCCAGTGGGGCCCAGAGGCAGGTGGAGGTGGGTGTGGCAGGGCAGCAGTGCAGATGTGCTGGCCGGTCCCACCCTCTGAACTGGGAAGAGCTAATGAGGAGAGGAAAGGTTGAGGCGCCTGGGGACACAGGCACGTGGTGAGGCAAATGTTCCAAGGACAGCCACAGCCAGGACTCAGACACAGCGGTGGGGACTGGGAGTGTGGAGTGTGGAGTAAAGACAGCCCTGCAGCGACTGCCTTCTTTTTTTCCCCCTCTTTTTATGATTCAGTTTGGCCATCTGTCTCTGGACAGGGGGAGGTCAGGTGGAAGGGACAACTGGGCTTGGCAGCTCATAAAAGTGAGGCATTCAGCATGGAGAACACCCAGTCTCTTCATCAAGATTAACTTGCCCAAGGAATAGTATATGTCAGAGTGTTACAATTTCCATAAGAAAGCGGGAGAAAGACCGTATAGGGATCTGCTGATGTGTCTCCAGAGCACACAGGAAACTCAAGTAAGAGTTTGCCTCTGGAGAAGAGAACTGCATGAGTGGGAAACAGGGGTAGGAAGGAGATTTTTTCATTGTATGCCTTTTTGTTCCTTTTAGATTTTGAAATTACCCAAATGTATTGATGTGTGTGTGTGTAAAACCCAACACCCAAAGTCCCTGAGAAAACCTTTCTGAAAGAGTAAGCAAAGCTTAAAGTTTATTGCAAGAATCAAGTTTTGCTTGCAGAATAAACACAGAAAACCATTTCATTCAGAGCACAGAAATGAAAAAGGTGCTTATAGGAAGGAAAGAAGGAAGAAAGAAGGAAGGATGGAGGGAGGGATGGAGGGAGGATGAAAGGAAAAAGGGAGAGAGGGCAGAAGGAAAGAGGAAGGGAAGGAGGGACGAAGGAAGGAAGGAAGCAATGAAAAAGGAAGGAAGGAGGGACGGGGGAAGGAGGGAGGAGGGAGGAGAAGAAGGAAAGAGGAAGGAAGGATGGGAGGAAGGAAGGAAGGAAAGGAGGCAGGGTCGGGGGTAGGGAGGAAGAAAGTGGCACTCATCCGCATACAGCTGCTACATGTACGATGCTTGCCCCTGGCTCTGCTCGACCAACACATACTCTACTATCCTACTAATCAAACAAAAAAGCCAAGAAAGTTATGCTCACCCGGTTATTCTCAAATAATTCCAAGATGAAGGTAATAGCACTGCTGTTGATGCCGATGAACAGATTAGCACAAGATAAAGCCACATAGGCTGTGCTGGGGACATCAAACAGGAAGGATGCTGGGTACATCATGGGAATGACCGCCCATCTGTGTGAAATGAGACAACTCAGAGTGATGGAGTTCCACATTCCATTCCACCTACAATACGTCTGGATATAATGCACTCCCCTTACACCTGAGGTGATGTGTGTGAACTGGCCAGAGTCCCAGGGGACCAGAGAGATACTCCATTTGTTGGTCTCTGTGCCTCAACTTTAAATGGAGATAATGATGCCTGCCTTGACCACTTCATGGGGTTTTGTGAGGAGCAAATGGGCTGCTAGCTGTGTATATACTCTGTAAACTACAAAGCCCTGTACAATTCATAGGAGGGTTCTCCAGCCTGCAACACCTCCCACTCTAGCCTGGGTCAGCAAAGCCCAGCTGAGGTCATCTCAGATGAGCCCAGTGAGCTCATCTTCACAGCTTATAGTCAGGTTGGTTCCCAAATTCTCTATTTCCAAGAGAAAGATGTGGAGAACAATGCTTTGGCAAGGCTCTACTGGCCCACAGAGGAAGGACCAGGATCACTATTTTCTTTTACAGATGAGGAAACTGAGGCCGAGATGGATGAATTACTCATTCAAATTTACACACGTGGGAAAGAAAGTTGCATGCTGGGCCCTGTAACTCTGCTGATGTAACCCCTGTGTCATCCTCTGTCCCTGACTCAGGAGGAGCTTTTTGGCCGGAGTCTTCTACTGTGGGCGGTAACTCTTGGCCAGTTCACATGGGGACACTGAGGTGGACAGATTGGCCACAGATGAGTGAGAGTCAGAGCTGGGTGAGGGGTTGGGGAATGGCTGCCCCCAGGCTTTGGTCAAGGCCTCAGTTTGAGTAGGAGATTCAGATCATGTGGGACTTCTCTCATTGTCACTGACAGGACCAGGCCTCAGAGATACCTCTGTCAGTGGAGTCAGAATCAGAAGCCAGACAGATCCCTGGTTATCAGCTTCAGACCCTACCTGGGGCCGGAAGCTAAACTTGTGGGTGCTACCACCACAGGACAGCCCAGGTTTTCTGTCAGGAGATGATCCCCCACCCCCACCACCAGGCTTCTCTTCAGAGGCATTAGCTAATGGCCCAAACGGCTTACCCATACAGCAGGAGCAGTGCCACAAGGGCAGGAAGGTTTTCTGGAGAAGTGTAGGCTTTCTTCTGAAACCCGATGAAGATGCCCACCACCAGCCCAGCACTCACGGAATAATTCATCTCGGAAAGAGAAGAGGAGAGCAAGTCACTTAACCTCTCAGACCTGCTGCCAGCTCTGCAAAATGAGGGGTGGGGCCAGGCTCCTCCAGCTCGTAGGGTCTGGGATTCTGATTCGACTTGCTTTTTAAACAGTTCTTGGTTGGCAAACATATGTTAAGCTGTCACTAGTCCTCCTACCCCACCCCATGCCCTACCTCCCTGCCAAGGGAACCTTTAGTTTGTATCTTTTGAAAGGATCAATTACAAAATTCTGCCTGGTCTCTCACTCTTTCTATTTGGTCATAAAGTTTTGTTGATTCTTCTTTCTAAGCATGTCTTCAGAATTCAGAAAAACTTAAAGCCTAGTTCTTGGCTTCACAAAGCTCAAATAAATAATGATACCCTTTTTAAACAATTTAGTCCTACAGCCACTATACTGGGCACAGAAAGGGGACGGCAACAGTGGGGTTAGGGGAGGAGCCATGGTGATCAGGAGCAGGGCAAGAACCAGAGACGGGCTTCCTCAGGGGGCAACCTGCCGTGGGGTGTGGAGGCCTCAACGGGATGAGAAAGATATCCTTACAGGAGGCTGATCTGGTGCAGGGTATCAGAGCCAGAGCAGAACGAGGAGGACCTGCATGCAGCAGAGGCAGCTGGAGCAGGGAGAGGACGGCATCCACATGGGGAGGGGATGGTGGCAGAGTTGGGCACTGTTCAGGTGTATAGGTCCGGTAGATAAATGAGTTGGGAGTGAGAGAAGCCAGCGTCTCACTGTTGGAGAAGGGAGTTACAGATGTGGA
|
TTTTGTCCTTCCTAAATACCTGCACAATGATTAGCTCAGAGTAGGCACTTCATTATTTATTAAATGGGCTAATAGAAATCTACAGGCTGAAATTGAACTTCCTCCACCACGGCTCCCCCAGCCCCTGCAGCCTGGCTCTTCCCGCTGCCTCTGGCCTGCAGCATGTTATCTGCCTCGCTCCTCTGCTGCTCTGTCACACGCTGTATTATGGAGGATCATACACTGTGGCTTATATCGTTGCAAACTTCGTGGGCAGGTCCTTTTCCGACTGGAACGGGAGCCTCTGGAGGGCAGGACGAGTGGGCCACGCTTGTTTATATCAGCACACACCCGGCACGTGGTGTTCAGCTGGTAAAGACCTCCTGATCTCACACGGGCCGGCAGCTGCTGGGAGCTGGGGAGCTTCCTGTGGGATACTGGGGGTTTCCATAGCAGCTGTGTATCGGATAATTTACATGAAAATACCAGGTTTTTGAAGGCGGGTGCTTAGCAAATGTTGGCTAAATGGGTGCAGCCTCAGAGGGGAAAATGTTCTGAGTTGCTTTAAGCTGGCTATTTAATTATTCTGAAGGAAAACTGTCTTAAGACTTAGTGGGCTGTGAGCCTGTGGCAAACACAGCTCTGCAAAGCAGCACTTTCAGTCACCTGGGTGCTCTGGCCATCTGCTGGGGCTGTGTTCTTATCCCCCCGCCTTTCCAGAGTCTGACTCTGACATGCTGAATTTCTTATCATTCATGGGACAGATGAGGCTTCGTTACTTGCCTAGCAGCCACGAAACCCTAACAAGATCTGGAAAGAGTCAGTCTCAGGGGTCCACGGGTCTGGGCGGTTCATGGTGGGGCCTCCGCACAGATTTGTCCTGTGTTCCCCAGTGGGGCCCAGAGGCAGGTGGAGGTGGGTGTGGCAGGGCAGCAGTGCAGATGTGCTGGCCGGTCCCACCCTCTGAACTGGGAAGAGCTAATGAGGAGAGGAAAGGTTGAGGCGCCTGGGGACACAGGCACGTGGTGAGGCAAATGTTCCAAGGACAGCCACAGCCAGGACTCAGACACAGCGGTGGGGACTGGGAGTGTGGAGTGTGGAGTAAAGACAGCCCTGCAGCGACTGCCTTCTTTTTTTCCCCCTCTTTTTATGATTCAGTTTGGCCATCTGTCTCTGGACAGGGGGAGGTCAGGTGGAAGGGACAACTGGGCTTGGCAGCTCATAAAAGTGAGGCATTCAGCATGGAGAACACCCAGTCTCTTCATCAAGATTAACTTGCCCAAGGAATAGTATATGTCAGAGTGTTACAATTTCCATAAGAAAGCGGGAGAAAGACCGTATAGGGATCTGCTGATGTGTCTCCAGAGCACACAGGAAACTCAAGTAAGAGTTTGCCTCTGGAGAAGAGAACTGCATGAGTGGGAAACAGGGGTAGGAAGGAGATTTTTTCATTGTATGCCTTTTTGTTCCTTTTAGATTTTGAAATTACCCAAATGTATTGATGTGTGTGTGTGTAAAACCCAACACCCAAAGTCCCTGAGAAAACCTTTCTGAAAGAGTAAGCAAAGCTTAAAGTTTATTGCAAGAATCAAGTTTTGCTTGCAGAATAAACACAGAAAACCATTTCATTCAGAGCACAGAAATGAAAAAGGTGCTTATAGGAAGGAAAGAAGGAAGAAAGAAGGAAGGATGGAGGGAGGGATGGAGGGAGGATGAAAGGAAAAAGGGAGAGAGGGCAGAAGGAAAGAGGAAGGGAAGGAGGGACGAAGGAAGGAAGGAAGCAATGAAAAAGGAAGGAAGGAGGGACGGGGGAAGGAGGGAGGAGGGAGGAGAAGAAGGAAAGAGGAAGGAAGGATGGGAGGAAGGAAGGAAGGAAAGGAGGCAGGGTCGGGGGTAGGGAGGAAGAAAGTGGCACTCATCCGCATACAGCTGCTACATGTACGATGCTTGCCCCTGGCTCTGCTCGACCAACACATACTCTACTATCCTACTAATCAAACAAAAAAGCCAAGAAAGTTATGCTCACCCGGTTATTCTCAAATAATTCCAAGATGAAGGTAATAGCACTGTTGTTGATGCCGATGAACAGATTAGCACAAGATAAAGCCACATAGGCTGTGCTGGGGACATCAAACAGGAAGGATGCTGGGTACATCATGGGAATGACCGCCCATCTGTGTGAAATGAGACAACTCAGAGTGATGGAGTTCCACATTCCATTCCACCTACAATACGTCTGGATATAATGCACTCCCCTTACACCTGAGGTGATGTGTGTGAACTGGCCAGAGTCCCAGGGGACCAGAGAGATACTCCATTTGTTGGTCTCTGTGCCTCAACTTTAAATGGAGATAATGATGCCTGCCTTGACCACTTCATGGGGTTTTGTGAGGAGCAAATGGGCTGCTAGCTGTGTATATACTCTGTAAACTACAAAGCCCTGTACAATTCATAGGAGGGTTCTCCAGCCTGCAACACCTCCCACTCTAGCCTGGGTCAGCAAAGCCCAGCTGAGGTCATCTCAGATGAGCCCAGTGAGCTCATCTTCACAGCTTATAGTCAGGTTGGTTCCCAAATTCTCTATTTCCAAGAGAAAGATGTGGAGAACAATGCTTTGGCAAGGCTCTACTGGCCCACAGAGGAAGGACCAGGATCACTATTTTCTTTTACAGATGAGGAAACTGAGGCCGAGATGGATGAATTACTCATTCAAATTTACACACGTGGGAAAGAAAGTTGCATGCTGGGCCCTGTAACTCTGCTGATGTAACCCCTGTGTCATCCTCTGTCCCTGACTCAGGAGGAGCTTTTTGGCCGGAGTCTTCTACTGTGGGCGGTAACTCTTGGCCAGTTCACATGGGGACACTGAGGTGGACAGATTGGCCACAGATGAGTGAGAGTCAGAGCTGGGTGAGGGGTTGGGGAATGGCTGCCCCCAGGCTTTGGTCAAGGCCTCAGTTTGAGTAGGAGATTCAGATCATGTGGGACTTCTCTCATTGTCACTGACAGGACCAGGCCTCAGAGATACCTCTGTCAGTGGAGTCAGAATCAGAAGCCAGACAGATCCCTGGTTATCAGCTTCAGACCCTACCTGGGGCCGGAAGCTAAACTTGTGGGTGCTACCACCACAGGACAGCCCAGGTTTTCTGTCAGGAGATGATCCCCCACCCCCACCACCAGGCTTCTCTTCAGAGGCATTAGCTAATGGCCCAAACGGCTTACCCATACAGCAGGAGCAGTGCCACAAGGGCAGGAAGGTTTTCTGGAGAAGTGTAGGCTTTCTTCTGAAACCCGATGAAGATGCCCACCACCAGCCCAGCACTCACGGAATAATTCATCTCGGAAAGAGAAGAGGAGAGCAAGTCACTTAACCTCTCAGACCTGCTGCCAGCTCTGCAAAATGAGGGGTGGGGCCAGGCTCCTCCAGCTCGTAGGGTCTGGGATTCTGATTCGACTTGCTTTTTAAACAGTTCTTGGTTGGCAAACATATGTTAAGCTGTCACTAGTCCTCCTACCCCACCCCATGCCCTACCTCCCTGCCAAGGGAACCTTTAGTTTGTATCTTTTGAAAGGATCAATTACAAAATTCTGCCTGGTCTCTCACTCTTTCTATTTGGTCATAAAGTTTTGTTGATTCTTCTTTCTAAGCATGTCTTCAGAATTCAGAAAAACTTAAAGCCTAGTTCTTGGCTTCACAAAGCTCAAATAAATAATGATACCCTTTTTAAACAATTTAGTCCTACAGCCACTATACTGGGCACAGAAAGGGGACGGCAACAGTGGGGTTAGGGGAGGAGCCATGGTGATCAGGAGCAGGGCAAGAACCAGAGACGGGCTTCCTCAGGGGGCAACCTGCCGTGGGGTGTGGAGGCCTCAACGGGATGAGAAAGATATCCTTACAGGAGGCTGATCTGGTGCAGGGTATCAGAGCCAGAGCAGAACGAGGAGGACCTGCATGCAGCAGAGGCAGCTGGAGCAGGGAGAGGACGGCATCCACATGGGGAGGGGATGGTGGCAGAGTTGGGCACTGTTCAGGTGTATAGGTCCGGTAGATAAATGAGTTGGGAGTGAGAGAAGCCAGCGTCTCACTGTTGGAGAAGGGAGTTACAGATGTGGA
|
Task1_train_1143
|
This variant affects gene ABCA4 (ATP binding cassette subfamily A member 4) located on Chromosome 1. Evaluate its biological effect and specify any disease association.
|
Pathogenic; not provided
|
AGAGTAGGCACTTCATTATTTATTAAATGGGCTAATAGAAATCTACAGGCTGAAATTGAACTTCCTCCACCACGGCTCCCCCAGCCCCTGCAGCCTGGCTCTTCCCGCTGCCTCTGGCCTGCAGCATGTTATCTGCCTCGCTCCTCTGCTGCTCTGTCACACGCTGTATTATGGAGGATCATACACTGTGGCTTATATCGTTGCAAACTTCGTGGGCAGGTCCTTTTCCGACTGGAACGGGAGCCTCTGGAGGGCAGGACGAGTGGGCCACGCTTGTTTATATCAGCACACACCCGGCACGTGGTGTTCAGCTGGTAAAGACCTCCTGATCTCACACGGGCCGGCAGCTGCTGGGAGCTGGGGAGCTTCCTGTGGGATACTGGGGGTTTCCATAGCAGCTGTGTATCGGATAATTTACATGAAAATACCAGGTTTTTGAAGGCGGGTGCTTAGCAAATGTTGGCTAAATGGGTGCAGCCTCAGAGGGGAAAATGTTCTGAGTTGCTTTAAGCTGGCTATTTAATTATTCTGAAGGAAAACTGTCTTAAGACTTAGTGGGCTGTGAGCCTGTGGCAAACACAGCTCTGCAAAGCAGCACTTTCAGTCACCTGGGTGCTCTGGCCATCTGCTGGGGCTGTGTTCTTATCCCCCCGCCTTTCCAGAGTCTGACTCTGACATGCTGAATTTCTTATCATTCATGGGACAGATGAGGCTTCGTTACTTGCCTAGCAGCCACGAAACCCTAACAAGATCTGGAAAGAGTCAGTCTCAGGGGTCCACGGGTCTGGGCGGTTCATGGTGGGGCCTCCGCACAGATTTGTCCTGTGTTCCCCAGTGGGGCCCAGAGGCAGGTGGAGGTGGGTGTGGCAGGGCAGCAGTGCAGATGTGCTGGCCGGTCCCACCCTCTGAACTGGGAAGAGCTAATGAGGAGAGGAAAGGTTGAGGCGCCTGGGGACACAGGCACGTGGTGAGGCAAATGTTCCAAGGACAGCCACAGCCAGGACTCAGACACAGCGGTGGGGACTGGGAGTGTGGAGTGTGGAGTAAAGACAGCCCTGCAGCGACTGCCTTCTTTTTTTCCCCCTCTTTTTATGATTCAGTTTGGCCATCTGTCTCTGGACAGGGGGAGGTCAGGTGGAAGGGACAACTGGGCTTGGCAGCTCATAAAAGTGAGGCATTCAGCATGGAGAACACCCAGTCTCTTCATCAAGATTAACTTGCCCAAGGAATAGTATATGTCAGAGTGTTACAATTTCCATAAGAAAGCGGGAGAAAGACCGTATAGGGATCTGCTGATGTGTCTCCAGAGCACACAGGAAACTCAAGTAAGAGTTTGCCTCTGGAGAAGAGAACTGCATGAGTGGGAAACAGGGGTAGGAAGGAGATTTTTTCATTGTATGCCTTTTTGTTCCTTTTAGATTTTGAAATTACCCAAATGTATTGATGTGTGTGTGTGTAAAACCCAACACCCAAAGTCCCTGAGAAAACCTTTCTGAAAGAGTAAGCAAAGCTTAAAGTTTATTGCAAGAATCAAGTTTTGCTTGCAGAATAAACACAGAAAACCATTTCATTCAGAGCACAGAAATGAAAAAGGTGCTTATAGGAAGGAAAGAAGGAAGAAAGAAGGAAGGATGGAGGGAGGGATGGAGGGAGGATGAAAGGAAAAAGGGAGAGAGGGCAGAAGGAAAGAGGAAGGGAAGGAGGGACGAAGGAAGGAAGGAAGCAATGAAAAAGGAAGGAAGGAGGGACGGGGGAAGGAGGGAGGAGGGAGGAGAAGAAGGAAAGAGGAAGGAAGGATGGGAGGAAGGAAGGAAGGAAAGGAGGCAGGGTCGGGGGTAGGGAGGAAGAAAGTGGCACTCATCCGCATACAGCTGCTACATGTACGATGCTTGCCCCTGGCTCTGCTCGACCAACACATACTCTACTATCCTACTAATCAAACAAAAAAGCCAAGAAAGTTATGCTCACCCGGTTATTCTCAAATAATTCCAAGATGAAGGTAATAGCACTGCTGTTGATGCCGATGAACAGATTAGCACAAGATAAAGCCACATAGGCTGTGCTGGGGACATCAAACAGGAAGGATGCTGGGTACATCATGGGAATGACCGCCCATCTGTGTGAAATGAGACAACTCAGAGTGATGGAGTTCCACATTCCATTCCACCTACAATACGTCTGGATATAATGCACTCCCCTTACACCTGAGGTGATGTGTGTGAACTGGCCAGAGTCCCAGGGGACCAGAGAGATACTCCATTTGTTGGTCTCTGTGCCTCAACTTTAAATGGAGATAATGATGCCTGCCTTGACCACTTCATGGGGTTTTGTGAGGAGCAAATGGGCTGCTAGCTGTGTATATACTCTGTAAACTACAAAGCCCTGTACAATTCATAGGAGGGTTCTCCAGCCTGCAACACCTCCCACTCTAGCCTGGGTCAGCAAAGCCCAGCTGAGGTCATCTCAGATGAGCCCAGTGAGCTCATCTTCACAGCTTATAGTCAGGTTGGTTCCCAAATTCTCTATTTCCAAGAGAAAGATGTGGAGAACAATGCTTTGGCAAGGCTCTACTGGCCCACAGAGGAAGGACCAGGATCACTATTTTCTTTTACAGATGAGGAAACTGAGGCCGAGATGGATGAATTACTCATTCAAATTTACACACGTGGGAAAGAAAGTTGCATGCTGGGCCCTGTAACTCTGCTGATGTAACCCCTGTGTCATCCTCTGTCCCTGACTCAGGAGGAGCTTTTTGGCCGGAGTCTTCTACTGTGGGCGGTAACTCTTGGCCAGTTCACATGGGGACACTGAGGTGGACAGATTGGCCACAGATGAGTGAGAGTCAGAGCTGGGTGAGGGGTTGGGGAATGGCTGCCCCCAGGCTTTGGTCAAGGCCTCAGTTTGAGTAGGAGATTCAGATCATGTGGGACTTCTCTCATTGTCACTGACAGGACCAGGCCTCAGAGATACCTCTGTCAGTGGAGTCAGAATCAGAAGCCAGACAGATCCCTGGTTATCAGCTTCAGACCCTACCTGGGGCCGGAAGCTAAACTTGTGGGTGCTACCACCACAGGACAGCCCAGGTTTTCTGTCAGGAGATGATCCCCCACCCCCACCACCAGGCTTCTCTTCAGAGGCATTAGCTAATGGCCCAAACGGCTTACCCATACAGCAGGAGCAGTGCCACAAGGGCAGGAAGGTTTTCTGGAGAAGTGTAGGCTTTCTTCTGAAACCCGATGAAGATGCCCACCACCAGCCCAGCACTCACGGAATAATTCATCTCGGAAAGAGAAGAGGAGAGCAAGTCACTTAACCTCTCAGACCTGCTGCCAGCTCTGCAAAATGAGGGGTGGGGCCAGGCTCCTCCAGCTCGTAGGGTCTGGGATTCTGATTCGACTTGCTTTTTAAACAGTTCTTGGTTGGCAAACATATGTTAAGCTGTCACTAGTCCTCCTACCCCACCCCATGCCCTACCTCCCTGCCAAGGGAACCTTTAGTTTGTATCTTTTGAAAGGATCAATTACAAAATTCTGCCTGGTCTCTCACTCTTTCTATTTGGTCATAAAGTTTTGTTGATTCTTCTTTCTAAGCATGTCTTCAGAATTCAGAAAAACTTAAAGCCTAGTTCTTGGCTTCACAAAGCTCAAATAAATAATGATACCCTTTTTAAACAATTTAGTCCTACAGCCACTATACTGGGCACAGAAAGGGGACGGCAACAGTGGGGTTAGGGGAGGAGCCATGGTGATCAGGAGCAGGGCAAGAACCAGAGACGGGCTTCCTCAGGGGGCAACCTGCCGTGGGGTGTGGAGGCCTCAACGGGATGAGAAAGATATCCTTACAGGAGGCTGATCTGGTGCAGGGTATCAGAGCCAGAGCAGAACGAGGAGGACCTGCATGCAGCAGAGGCAGCTGGAGCAGGGAGAGGACGGCATCCACATGGGGAGGGGATGGTGGCAGAGTTGGGCACTGTTCAGGTGTATAGGTCCGGTAGATAAATGAGTTGGGAGTGAGAGAAGCCAGCGTCTCACTGTTGGAGAAGGGAGTTACAGATGTGGAAAGAAAAAAAACTAGAATGAGCCCTGTGGAGTTGGTT
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AGAGTAGGCACTTCATTATTTATTAAATGGGCTAATAGAAATCTACAGGCTGAAATTGAACTTCCTCCACCACGGCTCCCCCAGCCCCTGCAGCCTGGCTCTTCCCGCTGCCTCTGGCCTGCAGCATGTTATCTGCCTCGCTCCTCTGCTGCTCTGTCACACGCTGTATTATGGAGGATCATACACTGTGGCTTATATCGTTGCAAACTTCGTGGGCAGGTCCTTTTCCGACTGGAACGGGAGCCTCTGGAGGGCAGGACGAGTGGGCCACGCTTGTTTATATCAGCACACACCCGGCACGTGGTGTTCAGCTGGTAAAGACCTCCTGATCTCACACGGGCCGGCAGCTGCTGGGAGCTGGGGAGCTTCCTGTGGGATACTGGGGGTTTCCATAGCAGCTGTGTATCGGATAATTTACATGAAAATACCAGGTTTTTGAAGGCGGGTGCTTAGCAAATGTTGGCTAAATGGGTGCAGCCTCAGAGGGGAAAATGTTCTGAGTTGCTTTAAGCTGGCTATTTAATTATTCTGAAGGAAAACTGTCTTAAGACTTAGTGGGCTGTGAGCCTGTGGCAAACACAGCTCTGCAAAGCAGCACTTTCAGTCACCTGGGTGCTCTGGCCATCTGCTGGGGCTGTGTTCTTATCCCCCCGCCTTTCCAGAGTCTGACTCTGACATGCTGAATTTCTTATCATTCATGGGACAGATGAGGCTTCGTTACTTGCCTAGCAGCCACGAAACCCTAACAAGATCTGGAAAGAGTCAGTCTCAGGGGTCCACGGGTCTGGGCGGTTCATGGTGGGGCCTCCGCACAGATTTGTCCTGTGTTCCCCAGTGGGGCCCAGAGGCAGGTGGAGGTGGGTGTGGCAGGGCAGCAGTGCAGATGTGCTGGCCGGTCCCACCCTCTGAACTGGGAAGAGCTAATGAGGAGAGGAAAGGTTGAGGCGCCTGGGGACACAGGCACGTGGTGAGGCAAATGTTCCAAGGACAGCCACAGCCAGGACTCAGACACAGCGGTGGGGACTGGGAGTGTGGAGTGTGGAGTAAAGACAGCCCTGCAGCGACTGCCTTCTTTTTTTCCCCCTCTTTTTATGATTCAGTTTGGCCATCTGTCTCTGGACAGGGGGAGGTCAGGTGGAAGGGACAACTGGGCTTGGCAGCTCATAAAAGTGAGGCATTCAGCATGGAGAACACCCAGTCTCTTCATCAAGATTAACTTGCCCAAGGAATAGTATATGTCAGAGTGTTACAATTTCCATAAGAAAGCGGGAGAAAGACCGTATAGGGATCTGCTGATGTGTCTCCAGAGCACACAGGAAACTCAAGTAAGAGTTTGCCTCTGGAGAAGAGAACTGCATGAGTGGGAAACAGGGGTAGGAAGGAGATTTTTTCATTGTATGCCTTTTTGTTCCTTTTAGATTTTGAAATTACCCAAATGTATTGATGTGTGTGTGTGTAAAACCCAACACCCAAAGTCCCTGAGAAAACCTTTCTGAAAGAGTAAGCAAAGCTTAAAGTTTATTGCAAGAATCAAGTTTTGCTTGCAGAATAAACACAGAAAACCATTTCATTCAGAGCACAGAAATGAAAAAGGTGCTTATAGGAAGGAAAGAAGGAAGAAAGAAGGAAGGATGGAGGGAGGGATGGAGGGAGGATGAAAGGAAAAAGGGAGAGAGGGCAGAAGGAAAGAGGAAGGGAAGGAGGGACGAAGGAAGGAAGGAAGCAATGAAAAAGGAAGGAAGGAGGGACGGGGGAAGGAGGGAGGAGGGAGGAGAAGAAGGAAAGAGGAAGGAAGGATGGGAGGAAGGAAGGAAGGAAAGGAGGCAGGGTCGGGGGTAGGGAGGAAGAAAGTGGCACTCATCCGCATACAGCTGCTACATGTACGATGCTTGCCCCTGGCTCTGCTCGACCAACACATACTCTACTATCCTACTAATCAAACAAAAAAGCCAAGAAAGTTATGCTCACCCGGTTATTCTCAAATAATTCCAAGATGAAGGTAATAGCACTGCTGTTGATGCCGATGAACAGATTAGCACAAGATAAAGGCACATAGGCTGTGCTGGGGACATCAAACAGGAAGGATGCTGGGTACATCATGGGAATGACCGCCCATCTGTGTGAAATGAGACAACTCAGAGTGATGGAGTTCCACATTCCATTCCACCTACAATACGTCTGGATATAATGCACTCCCCTTACACCTGAGGTGATGTGTGTGAACTGGCCAGAGTCCCAGGGGACCAGAGAGATACTCCATTTGTTGGTCTCTGTGCCTCAACTTTAAATGGAGATAATGATGCCTGCCTTGACCACTTCATGGGGTTTTGTGAGGAGCAAATGGGCTGCTAGCTGTGTATATACTCTGTAAACTACAAAGCCCTGTACAATTCATAGGAGGGTTCTCCAGCCTGCAACACCTCCCACTCTAGCCTGGGTCAGCAAAGCCCAGCTGAGGTCATCTCAGATGAGCCCAGTGAGCTCATCTTCACAGCTTATAGTCAGGTTGGTTCCCAAATTCTCTATTTCCAAGAGAAAGATGTGGAGAACAATGCTTTGGCAAGGCTCTACTGGCCCACAGAGGAAGGACCAGGATCACTATTTTCTTTTACAGATGAGGAAACTGAGGCCGAGATGGATGAATTACTCATTCAAATTTACACACGTGGGAAAGAAAGTTGCATGCTGGGCCCTGTAACTCTGCTGATGTAACCCCTGTGTCATCCTCTGTCCCTGACTCAGGAGGAGCTTTTTGGCCGGAGTCTTCTACTGTGGGCGGTAACTCTTGGCCAGTTCACATGGGGACACTGAGGTGGACAGATTGGCCACAGATGAGTGAGAGTCAGAGCTGGGTGAGGGGTTGGGGAATGGCTGCCCCCAGGCTTTGGTCAAGGCCTCAGTTTGAGTAGGAGATTCAGATCATGTGGGACTTCTCTCATTGTCACTGACAGGACCAGGCCTCAGAGATACCTCTGTCAGTGGAGTCAGAATCAGAAGCCAGACAGATCCCTGGTTATCAGCTTCAGACCCTACCTGGGGCCGGAAGCTAAACTTGTGGGTGCTACCACCACAGGACAGCCCAGGTTTTCTGTCAGGAGATGATCCCCCACCCCCACCACCAGGCTTCTCTTCAGAGGCATTAGCTAATGGCCCAAACGGCTTACCCATACAGCAGGAGCAGTGCCACAAGGGCAGGAAGGTTTTCTGGAGAAGTGTAGGCTTTCTTCTGAAACCCGATGAAGATGCCCACCACCAGCCCAGCACTCACGGAATAATTCATCTCGGAAAGAGAAGAGGAGAGCAAGTCACTTAACCTCTCAGACCTGCTGCCAGCTCTGCAAAATGAGGGGTGGGGCCAGGCTCCTCCAGCTCGTAGGGTCTGGGATTCTGATTCGACTTGCTTTTTAAACAGTTCTTGGTTGGCAAACATATGTTAAGCTGTCACTAGTCCTCCTACCCCACCCCATGCCCTACCTCCCTGCCAAGGGAACCTTTAGTTTGTATCTTTTGAAAGGATCAATTACAAAATTCTGCCTGGTCTCTCACTCTTTCTATTTGGTCATAAAGTTTTGTTGATTCTTCTTTCTAAGCATGTCTTCAGAATTCAGAAAAACTTAAAGCCTAGTTCTTGGCTTCACAAAGCTCAAATAAATAATGATACCCTTTTTAAACAATTTAGTCCTACAGCCACTATACTGGGCACAGAAAGGGGACGGCAACAGTGGGGTTAGGGGAGGAGCCATGGTGATCAGGAGCAGGGCAAGAACCAGAGACGGGCTTCCTCAGGGGGCAACCTGCCGTGGGGTGTGGAGGCCTCAACGGGATGAGAAAGATATCCTTACAGGAGGCTGATCTGGTGCAGGGTATCAGAGCCAGAGCAGAACGAGGAGGACCTGCATGCAGCAGAGGCAGCTGGAGCAGGGAGAGGACGGCATCCACATGGGGAGGGGATGGTGGCAGAGTTGGGCACTGTTCAGGTGTATAGGTCCGGTAGATAAATGAGTTGGGAGTGAGAGAAGCCAGCGTCTCACTGTTGGAGAAGGGAGTTACAGATGTGGAAAGAAAAAAAACTAGAATGAGCCCTGTGGAGTTGGTT
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Task1_train_1144
|
With a mutation on Chromosome 1 in gene ABCA4 (ATP binding cassette subfamily A member 4), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; not provided
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ATTATTTATTAAATGGGCTAATAGAAATCTACAGGCTGAAATTGAACTTCCTCCACCACGGCTCCCCCAGCCCCTGCAGCCTGGCTCTTCCCGCTGCCTCTGGCCTGCAGCATGTTATCTGCCTCGCTCCTCTGCTGCTCTGTCACACGCTGTATTATGGAGGATCATACACTGTGGCTTATATCGTTGCAAACTTCGTGGGCAGGTCCTTTTCCGACTGGAACGGGAGCCTCTGGAGGGCAGGACGAGTGGGCCACGCTTGTTTATATCAGCACACACCCGGCACGTGGTGTTCAGCTGGTAAAGACCTCCTGATCTCACACGGGCCGGCAGCTGCTGGGAGCTGGGGAGCTTCCTGTGGGATACTGGGGGTTTCCATAGCAGCTGTGTATCGGATAATTTACATGAAAATACCAGGTTTTTGAAGGCGGGTGCTTAGCAAATGTTGGCTAAATGGGTGCAGCCTCAGAGGGGAAAATGTTCTGAGTTGCTTTAAGCTGGCTATTTAATTATTCTGAAGGAAAACTGTCTTAAGACTTAGTGGGCTGTGAGCCTGTGGCAAACACAGCTCTGCAAAGCAGCACTTTCAGTCACCTGGGTGCTCTGGCCATCTGCTGGGGCTGTGTTCTTATCCCCCCGCCTTTCCAGAGTCTGACTCTGACATGCTGAATTTCTTATCATTCATGGGACAGATGAGGCTTCGTTACTTGCCTAGCAGCCACGAAACCCTAACAAGATCTGGAAAGAGTCAGTCTCAGGGGTCCACGGGTCTGGGCGGTTCATGGTGGGGCCTCCGCACAGATTTGTCCTGTGTTCCCCAGTGGGGCCCAGAGGCAGGTGGAGGTGGGTGTGGCAGGGCAGCAGTGCAGATGTGCTGGCCGGTCCCACCCTCTGAACTGGGAAGAGCTAATGAGGAGAGGAAAGGTTGAGGCGCCTGGGGACACAGGCACGTGGTGAGGCAAATGTTCCAAGGACAGCCACAGCCAGGACTCAGACACAGCGGTGGGGACTGGGAGTGTGGAGTGTGGAGTAAAGACAGCCCTGCAGCGACTGCCTTCTTTTTTTCCCCCTCTTTTTATGATTCAGTTTGGCCATCTGTCTCTGGACAGGGGGAGGTCAGGTGGAAGGGACAACTGGGCTTGGCAGCTCATAAAAGTGAGGCATTCAGCATGGAGAACACCCAGTCTCTTCATCAAGATTAACTTGCCCAAGGAATAGTATATGTCAGAGTGTTACAATTTCCATAAGAAAGCGGGAGAAAGACCGTATAGGGATCTGCTGATGTGTCTCCAGAGCACACAGGAAACTCAAGTAAGAGTTTGCCTCTGGAGAAGAGAACTGCATGAGTGGGAAACAGGGGTAGGAAGGAGATTTTTTCATTGTATGCCTTTTTGTTCCTTTTAGATTTTGAAATTACCCAAATGTATTGATGTGTGTGTGTGTAAAACCCAACACCCAAAGTCCCTGAGAAAACCTTTCTGAAAGAGTAAGCAAAGCTTAAAGTTTATTGCAAGAATCAAGTTTTGCTTGCAGAATAAACACAGAAAACCATTTCATTCAGAGCACAGAAATGAAAAAGGTGCTTATAGGAAGGAAAGAAGGAAGAAAGAAGGAAGGATGGAGGGAGGGATGGAGGGAGGATGAAAGGAAAAAGGGAGAGAGGGCAGAAGGAAAGAGGAAGGGAAGGAGGGACGAAGGAAGGAAGGAAGCAATGAAAAAGGAAGGAAGGAGGGACGGGGGAAGGAGGGAGGAGGGAGGAGAAGAAGGAAAGAGGAAGGAAGGATGGGAGGAAGGAAGGAAGGAAAGGAGGCAGGGTCGGGGGTAGGGAGGAAGAAAGTGGCACTCATCCGCATACAGCTGCTACATGTACGATGCTTGCCCCTGGCTCTGCTCGACCAACACATACTCTACTATCCTACTAATCAAACAAAAAAGCCAAGAAAGTTATGCTCACCCGGTTATTCTCAAATAATTCCAAGATGAAGGTAATAGCACTGCTGTTGATGCCGATGAACAGATTAGCACAAGATAAAGCCACATAGGCTGTGCTGGGGACATCAAACAGGAAGGATGCTGGGTACATCATGGGAATGACCGCCCATCTGTGTGAAATGAGACAACTCAGAGTGATGGAGTTCCACATTCCATTCCACCTACAATACGTCTGGATATAATGCACTCCCCTTACACCTGAGGTGATGTGTGTGAACTGGCCAGAGTCCCAGGGGACCAGAGAGATACTCCATTTGTTGGTCTCTGTGCCTCAACTTTAAATGGAGATAATGATGCCTGCCTTGACCACTTCATGGGGTTTTGTGAGGAGCAAATGGGCTGCTAGCTGTGTATATACTCTGTAAACTACAAAGCCCTGTACAATTCATAGGAGGGTTCTCCAGCCTGCAACACCTCCCACTCTAGCCTGGGTCAGCAAAGCCCAGCTGAGGTCATCTCAGATGAGCCCAGTGAGCTCATCTTCACAGCTTATAGTCAGGTTGGTTCCCAAATTCTCTATTTCCAAGAGAAAGATGTGGAGAACAATGCTTTGGCAAGGCTCTACTGGCCCACAGAGGAAGGACCAGGATCACTATTTTCTTTTACAGATGAGGAAACTGAGGCCGAGATGGATGAATTACTCATTCAAATTTACACACGTGGGAAAGAAAGTTGCATGCTGGGCCCTGTAACTCTGCTGATGTAACCCCTGTGTCATCCTCTGTCCCTGACTCAGGAGGAGCTTTTTGGCCGGAGTCTTCTACTGTGGGCGGTAACTCTTGGCCAGTTCACATGGGGACACTGAGGTGGACAGATTGGCCACAGATGAGTGAGAGTCAGAGCTGGGTGAGGGGTTGGGGAATGGCTGCCCCCAGGCTTTGGTCAAGGCCTCAGTTTGAGTAGGAGATTCAGATCATGTGGGACTTCTCTCATTGTCACTGACAGGACCAGGCCTCAGAGATACCTCTGTCAGTGGAGTCAGAATCAGAAGCCAGACAGATCCCTGGTTATCAGCTTCAGACCCTACCTGGGGCCGGAAGCTAAACTTGTGGGTGCTACCACCACAGGACAGCCCAGGTTTTCTGTCAGGAGATGATCCCCCACCCCCACCACCAGGCTTCTCTTCAGAGGCATTAGCTAATGGCCCAAACGGCTTACCCATACAGCAGGAGCAGTGCCACAAGGGCAGGAAGGTTTTCTGGAGAAGTGTAGGCTTTCTTCTGAAACCCGATGAAGATGCCCACCACCAGCCCAGCACTCACGGAATAATTCATCTCGGAAAGAGAAGAGGAGAGCAAGTCACTTAACCTCTCAGACCTGCTGCCAGCTCTGCAAAATGAGGGGTGGGGCCAGGCTCCTCCAGCTCGTAGGGTCTGGGATTCTGATTCGACTTGCTTTTTAAACAGTTCTTGGTTGGCAAACATATGTTAAGCTGTCACTAGTCCTCCTACCCCACCCCATGCCCTACCTCCCTGCCAAGGGAACCTTTAGTTTGTATCTTTTGAAAGGATCAATTACAAAATTCTGCCTGGTCTCTCACTCTTTCTATTTGGTCATAAAGTTTTGTTGATTCTTCTTTCTAAGCATGTCTTCAGAATTCAGAAAAACTTAAAGCCTAGTTCTTGGCTTCACAAAGCTCAAATAAATAATGATACCCTTTTTAAACAATTTAGTCCTACAGCCACTATACTGGGCACAGAAAGGGGACGGCAACAGTGGGGTTAGGGGAGGAGCCATGGTGATCAGGAGCAGGGCAAGAACCAGAGACGGGCTTCCTCAGGGGGCAACCTGCCGTGGGGTGTGGAGGCCTCAACGGGATGAGAAAGATATCCTTACAGGAGGCTGATCTGGTGCAGGGTATCAGAGCCAGAGCAGAACGAGGAGGACCTGCATGCAGCAGAGGCAGCTGGAGCAGGGAGAGGACGGCATCCACATGGGGAGGGGATGGTGGCAGAGTTGGGCACTGTTCAGGTGTATAGGTCCGGTAGATAAATGAGTTGGGAGTGAGAGAAGCCAGCGTCTCACTGTTGGAGAAGGGAGTTACAGATGTGGAAAGAAAAAAAACTAGAATGAGCCCTGTGGAGTTGGTTTTGGAGAGCTCATA
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ATTATTTATTAAATGGGCTAATAGAAATCTACAGGCTGAAATTGAACTTCCTCCACCACGGCTCCCCCAGCCCCTGCAGCCTGGCTCTTCCCGCTGCCTCTGGCCTGCAGCATGTTATCTGCCTCGCTCCTCTGCTGCTCTGTCACACGCTGTATTATGGAGGATCATACACTGTGGCTTATATCGTTGCAAACTTCGTGGGCAGGTCCTTTTCCGACTGGAACGGGAGCCTCTGGAGGGCAGGACGAGTGGGCCACGCTTGTTTATATCAGCACACACCCGGCACGTGGTGTTCAGCTGGTAAAGACCTCCTGATCTCACACGGGCCGGCAGCTGCTGGGAGCTGGGGAGCTTCCTGTGGGATACTGGGGGTTTCCATAGCAGCTGTGTATCGGATAATTTACATGAAAATACCAGGTTTTTGAAGGCGGGTGCTTAGCAAATGTTGGCTAAATGGGTGCAGCCTCAGAGGGGAAAATGTTCTGAGTTGCTTTAAGCTGGCTATTTAATTATTCTGAAGGAAAACTGTCTTAAGACTTAGTGGGCTGTGAGCCTGTGGCAAACACAGCTCTGCAAAGCAGCACTTTCAGTCACCTGGGTGCTCTGGCCATCTGCTGGGGCTGTGTTCTTATCCCCCCGCCTTTCCAGAGTCTGACTCTGACATGCTGAATTTCTTATCATTCATGGGACAGATGAGGCTTCGTTACTTGCCTAGCAGCCACGAAACCCTAACAAGATCTGGAAAGAGTCAGTCTCAGGGGTCCACGGGTCTGGGCGGTTCATGGTGGGGCCTCCGCACAGATTTGTCCTGTGTTCCCCAGTGGGGCCCAGAGGCAGGTGGAGGTGGGTGTGGCAGGGCAGCAGTGCAGATGTGCTGGCCGGTCCCACCCTCTGAACTGGGAAGAGCTAATGAGGAGAGGAAAGGTTGAGGCGCCTGGGGACACAGGCACGTGGTGAGGCAAATGTTCCAAGGACAGCCACAGCCAGGACTCAGACACAGCGGTGGGGACTGGGAGTGTGGAGTGTGGAGTAAAGACAGCCCTGCAGCGACTGCCTTCTTTTTTTCCCCCTCTTTTTATGATTCAGTTTGGCCATCTGTCTCTGGACAGGGGGAGGTCAGGTGGAAGGGACAACTGGGCTTGGCAGCTCATAAAAGTGAGGCATTCAGCATGGAGAACACCCAGTCTCTTCATCAAGATTAACTTGCCCAAGGAATAGTATATGTCAGAGTGTTACAATTTCCATAAGAAAGCGGGAGAAAGACCGTATAGGGATCTGCTGATGTGTCTCCAGAGCACACAGGAAACTCAAGTAAGAGTTTGCCTCTGGAGAAGAGAACTGCATGAGTGGGAAACAGGGGTAGGAAGGAGATTTTTTCATTGTATGCCTTTTTGTTCCTTTTAGATTTTGAAATTACCCAAATGTATTGATGTGTGTGTGTGTAAAACCCAACACCCAAAGTCCCTGAGAAAACCTTTCTGAAAGAGTAAGCAAAGCTTAAAGTTTATTGCAAGAATCAAGTTTTGCTTGCAGAATAAACACAGAAAACCATTTCATTCAGAGCACAGAAATGAAAAAGGTGCTTATAGGAAGGAAAGAAGGAAGAAAGAAGGAAGGATGGAGGGAGGGATGGAGGGAGGATGAAAGGAAAAAGGGAGAGAGGGCAGAAGGAAAGAGGAAGGGAAGGAGGGACGAAGGAAGGAAGGAAGCAATGAAAAAGGAAGGAAGGAGGGACGGGGGAAGGAGGGAGGAGGGAGGAGAAGAAGGAAAGAGGAAGGAAGGATGGGAGGAAGGAAGGAAGGAAAGGAGGCAGGGTCGGGGGTAGGGAGGAAGAAAGTGGCACTCATCCGCATACAGCTGCTACATGTACGATGCTTGCCCCTGGCTCTGCTCGACCAACACATACTCTACTATCCTACTAATCAAACAAAAAAGCCAAGAAAGTTATGCTCACCCGGTTATTCTCAAATAATTCCAAGATGAAGGTAATAGCACTGCTGTTGATGCCGATGAACAGATTAGCACAAGATAAAGCCACATAGGCTGTGTTGGGGACATCAAACAGGAAGGATGCTGGGTACATCATGGGAATGACCGCCCATCTGTGTGAAATGAGACAACTCAGAGTGATGGAGTTCCACATTCCATTCCACCTACAATACGTCTGGATATAATGCACTCCCCTTACACCTGAGGTGATGTGTGTGAACTGGCCAGAGTCCCAGGGGACCAGAGAGATACTCCATTTGTTGGTCTCTGTGCCTCAACTTTAAATGGAGATAATGATGCCTGCCTTGACCACTTCATGGGGTTTTGTGAGGAGCAAATGGGCTGCTAGCTGTGTATATACTCTGTAAACTACAAAGCCCTGTACAATTCATAGGAGGGTTCTCCAGCCTGCAACACCTCCCACTCTAGCCTGGGTCAGCAAAGCCCAGCTGAGGTCATCTCAGATGAGCCCAGTGAGCTCATCTTCACAGCTTATAGTCAGGTTGGTTCCCAAATTCTCTATTTCCAAGAGAAAGATGTGGAGAACAATGCTTTGGCAAGGCTCTACTGGCCCACAGAGGAAGGACCAGGATCACTATTTTCTTTTACAGATGAGGAAACTGAGGCCGAGATGGATGAATTACTCATTCAAATTTACACACGTGGGAAAGAAAGTTGCATGCTGGGCCCTGTAACTCTGCTGATGTAACCCCTGTGTCATCCTCTGTCCCTGACTCAGGAGGAGCTTTTTGGCCGGAGTCTTCTACTGTGGGCGGTAACTCTTGGCCAGTTCACATGGGGACACTGAGGTGGACAGATTGGCCACAGATGAGTGAGAGTCAGAGCTGGGTGAGGGGTTGGGGAATGGCTGCCCCCAGGCTTTGGTCAAGGCCTCAGTTTGAGTAGGAGATTCAGATCATGTGGGACTTCTCTCATTGTCACTGACAGGACCAGGCCTCAGAGATACCTCTGTCAGTGGAGTCAGAATCAGAAGCCAGACAGATCCCTGGTTATCAGCTTCAGACCCTACCTGGGGCCGGAAGCTAAACTTGTGGGTGCTACCACCACAGGACAGCCCAGGTTTTCTGTCAGGAGATGATCCCCCACCCCCACCACCAGGCTTCTCTTCAGAGGCATTAGCTAATGGCCCAAACGGCTTACCCATACAGCAGGAGCAGTGCCACAAGGGCAGGAAGGTTTTCTGGAGAAGTGTAGGCTTTCTTCTGAAACCCGATGAAGATGCCCACCACCAGCCCAGCACTCACGGAATAATTCATCTCGGAAAGAGAAGAGGAGAGCAAGTCACTTAACCTCTCAGACCTGCTGCCAGCTCTGCAAAATGAGGGGTGGGGCCAGGCTCCTCCAGCTCGTAGGGTCTGGGATTCTGATTCGACTTGCTTTTTAAACAGTTCTTGGTTGGCAAACATATGTTAAGCTGTCACTAGTCCTCCTACCCCACCCCATGCCCTACCTCCCTGCCAAGGGAACCTTTAGTTTGTATCTTTTGAAAGGATCAATTACAAAATTCTGCCTGGTCTCTCACTCTTTCTATTTGGTCATAAAGTTTTGTTGATTCTTCTTTCTAAGCATGTCTTCAGAATTCAGAAAAACTTAAAGCCTAGTTCTTGGCTTCACAAAGCTCAAATAAATAATGATACCCTTTTTAAACAATTTAGTCCTACAGCCACTATACTGGGCACAGAAAGGGGACGGCAACAGTGGGGTTAGGGGAGGAGCCATGGTGATCAGGAGCAGGGCAAGAACCAGAGACGGGCTTCCTCAGGGGGCAACCTGCCGTGGGGTGTGGAGGCCTCAACGGGATGAGAAAGATATCCTTACAGGAGGCTGATCTGGTGCAGGGTATCAGAGCCAGAGCAGAACGAGGAGGACCTGCATGCAGCAGAGGCAGCTGGAGCAGGGAGAGGACGGCATCCACATGGGGAGGGGATGGTGGCAGAGTTGGGCACTGTTCAGGTGTATAGGTCCGGTAGATAAATGAGTTGGGAGTGAGAGAAGCCAGCGTCTCACTGTTGGAGAAGGGAGTTACAGATGTGGAAAGAAAAAAAACTAGAATGAGCCCTGTGGAGTTGGTTTTGGAGAGCTCATA
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Task1_train_1145
|
A variant affecting Chromosome 1, within the gene ABCA4 (ATP binding cassette subfamily A member 4), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Stargardt disease
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GGCTAATAGAAATCTACAGGCTGAAATTGAACTTCCTCCACCACGGCTCCCCCAGCCCCTGCAGCCTGGCTCTTCCCGCTGCCTCTGGCCTGCAGCATGTTATCTGCCTCGCTCCTCTGCTGCTCTGTCACACGCTGTATTATGGAGGATCATACACTGTGGCTTATATCGTTGCAAACTTCGTGGGCAGGTCCTTTTCCGACTGGAACGGGAGCCTCTGGAGGGCAGGACGAGTGGGCCACGCTTGTTTATATCAGCACACACCCGGCACGTGGTGTTCAGCTGGTAAAGACCTCCTGATCTCACACGGGCCGGCAGCTGCTGGGAGCTGGGGAGCTTCCTGTGGGATACTGGGGGTTTCCATAGCAGCTGTGTATCGGATAATTTACATGAAAATACCAGGTTTTTGAAGGCGGGTGCTTAGCAAATGTTGGCTAAATGGGTGCAGCCTCAGAGGGGAAAATGTTCTGAGTTGCTTTAAGCTGGCTATTTAATTATTCTGAAGGAAAACTGTCTTAAGACTTAGTGGGCTGTGAGCCTGTGGCAAACACAGCTCTGCAAAGCAGCACTTTCAGTCACCTGGGTGCTCTGGCCATCTGCTGGGGCTGTGTTCTTATCCCCCCGCCTTTCCAGAGTCTGACTCTGACATGCTGAATTTCTTATCATTCATGGGACAGATGAGGCTTCGTTACTTGCCTAGCAGCCACGAAACCCTAACAAGATCTGGAAAGAGTCAGTCTCAGGGGTCCACGGGTCTGGGCGGTTCATGGTGGGGCCTCCGCACAGATTTGTCCTGTGTTCCCCAGTGGGGCCCAGAGGCAGGTGGAGGTGGGTGTGGCAGGGCAGCAGTGCAGATGTGCTGGCCGGTCCCACCCTCTGAACTGGGAAGAGCTAATGAGGAGAGGAAAGGTTGAGGCGCCTGGGGACACAGGCACGTGGTGAGGCAAATGTTCCAAGGACAGCCACAGCCAGGACTCAGACACAGCGGTGGGGACTGGGAGTGTGGAGTGTGGAGTAAAGACAGCCCTGCAGCGACTGCCTTCTTTTTTTCCCCCTCTTTTTATGATTCAGTTTGGCCATCTGTCTCTGGACAGGGGGAGGTCAGGTGGAAGGGACAACTGGGCTTGGCAGCTCATAAAAGTGAGGCATTCAGCATGGAGAACACCCAGTCTCTTCATCAAGATTAACTTGCCCAAGGAATAGTATATGTCAGAGTGTTACAATTTCCATAAGAAAGCGGGAGAAAGACCGTATAGGGATCTGCTGATGTGTCTCCAGAGCACACAGGAAACTCAAGTAAGAGTTTGCCTCTGGAGAAGAGAACTGCATGAGTGGGAAACAGGGGTAGGAAGGAGATTTTTTCATTGTATGCCTTTTTGTTCCTTTTAGATTTTGAAATTACCCAAATGTATTGATGTGTGTGTGTGTAAAACCCAACACCCAAAGTCCCTGAGAAAACCTTTCTGAAAGAGTAAGCAAAGCTTAAAGTTTATTGCAAGAATCAAGTTTTGCTTGCAGAATAAACACAGAAAACCATTTCATTCAGAGCACAGAAATGAAAAAGGTGCTTATAGGAAGGAAAGAAGGAAGAAAGAAGGAAGGATGGAGGGAGGGATGGAGGGAGGATGAAAGGAAAAAGGGAGAGAGGGCAGAAGGAAAGAGGAAGGGAAGGAGGGACGAAGGAAGGAAGGAAGCAATGAAAAAGGAAGGAAGGAGGGACGGGGGAAGGAGGGAGGAGGGAGGAGAAGAAGGAAAGAGGAAGGAAGGATGGGAGGAAGGAAGGAAGGAAAGGAGGCAGGGTCGGGGGTAGGGAGGAAGAAAGTGGCACTCATCCGCATACAGCTGCTACATGTACGATGCTTGCCCCTGGCTCTGCTCGACCAACACATACTCTACTATCCTACTAATCAAACAAAAAAGCCAAGAAAGTTATGCTCACCCGGTTATTCTCAAATAATTCCAAGATGAAGGTAATAGCACTGCTGTTGATGCCGATGAACAGATTAGCACAAGATAAAGCCACATAGGCTGTGCTGGGGACATCAAACAGGAAGGATGCTGGGTACATCATGGGAATGACCGCCCATCTGTGTGAAATGAGACAACTCAGAGTGATGGAGTTCCACATTCCATTCCACCTACAATACGTCTGGATATAATGCACTCCCCTTACACCTGAGGTGATGTGTGTGAACTGGCCAGAGTCCCAGGGGACCAGAGAGATACTCCATTTGTTGGTCTCTGTGCCTCAACTTTAAATGGAGATAATGATGCCTGCCTTGACCACTTCATGGGGTTTTGTGAGGAGCAAATGGGCTGCTAGCTGTGTATATACTCTGTAAACTACAAAGCCCTGTACAATTCATAGGAGGGTTCTCCAGCCTGCAACACCTCCCACTCTAGCCTGGGTCAGCAAAGCCCAGCTGAGGTCATCTCAGATGAGCCCAGTGAGCTCATCTTCACAGCTTATAGTCAGGTTGGTTCCCAAATTCTCTATTTCCAAGAGAAAGATGTGGAGAACAATGCTTTGGCAAGGCTCTACTGGCCCACAGAGGAAGGACCAGGATCACTATTTTCTTTTACAGATGAGGAAACTGAGGCCGAGATGGATGAATTACTCATTCAAATTTACACACGTGGGAAAGAAAGTTGCATGCTGGGCCCTGTAACTCTGCTGATGTAACCCCTGTGTCATCCTCTGTCCCTGACTCAGGAGGAGCTTTTTGGCCGGAGTCTTCTACTGTGGGCGGTAACTCTTGGCCAGTTCACATGGGGACACTGAGGTGGACAGATTGGCCACAGATGAGTGAGAGTCAGAGCTGGGTGAGGGGTTGGGGAATGGCTGCCCCCAGGCTTTGGTCAAGGCCTCAGTTTGAGTAGGAGATTCAGATCATGTGGGACTTCTCTCATTGTCACTGACAGGACCAGGCCTCAGAGATACCTCTGTCAGTGGAGTCAGAATCAGAAGCCAGACAGATCCCTGGTTATCAGCTTCAGACCCTACCTGGGGCCGGAAGCTAAACTTGTGGGTGCTACCACCACAGGACAGCCCAGGTTTTCTGTCAGGAGATGATCCCCCACCCCCACCACCAGGCTTCTCTTCAGAGGCATTAGCTAATGGCCCAAACGGCTTACCCATACAGCAGGAGCAGTGCCACAAGGGCAGGAAGGTTTTCTGGAGAAGTGTAGGCTTTCTTCTGAAACCCGATGAAGATGCCCACCACCAGCCCAGCACTCACGGAATAATTCATCTCGGAAAGAGAAGAGGAGAGCAAGTCACTTAACCTCTCAGACCTGCTGCCAGCTCTGCAAAATGAGGGGTGGGGCCAGGCTCCTCCAGCTCGTAGGGTCTGGGATTCTGATTCGACTTGCTTTTTAAACAGTTCTTGGTTGGCAAACATATGTTAAGCTGTCACTAGTCCTCCTACCCCACCCCATGCCCTACCTCCCTGCCAAGGGAACCTTTAGTTTGTATCTTTTGAAAGGATCAATTACAAAATTCTGCCTGGTCTCTCACTCTTTCTATTTGGTCATAAAGTTTTGTTGATTCTTCTTTCTAAGCATGTCTTCAGAATTCAGAAAAACTTAAAGCCTAGTTCTTGGCTTCACAAAGCTCAAATAAATAATGATACCCTTTTTAAACAATTTAGTCCTACAGCCACTATACTGGGCACAGAAAGGGGACGGCAACAGTGGGGTTAGGGGAGGAGCCATGGTGATCAGGAGCAGGGCAAGAACCAGAGACGGGCTTCCTCAGGGGGCAACCTGCCGTGGGGTGTGGAGGCCTCAACGGGATGAGAAAGATATCCTTACAGGAGGCTGATCTGGTGCAGGGTATCAGAGCCAGAGCAGAACGAGGAGGACCTGCATGCAGCAGAGGCAGCTGGAGCAGGGAGAGGACGGCATCCACATGGGGAGGGGATGGTGGCAGAGTTGGGCACTGTTCAGGTGTATAGGTCCGGTAGATAAATGAGTTGGGAGTGAGAGAAGCCAGCGTCTCACTGTTGGAGAAGGGAGTTACAGATGTGGAAAGAAAAAAAACTAGAATGAGCCCTGTGGAGTTGGTTTTGGAGAGCTCATAGTGTTCACTGTATAG
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GGCTAATAGAAATCTACAGGCTGAAATTGAACTTCCTCCACCACGGCTCCCCCAGCCCCTGCAGCCTGGCTCTTCCCGCTGCCTCTGGCCTGCAGCATGTTATCTGCCTCGCTCCTCTGCTGCTCTGTCACACGCTGTATTATGGAGGATCATACACTGTGGCTTATATCGTTGCAAACTTCGTGGGCAGGTCCTTTTCCGACTGGAACGGGAGCCTCTGGAGGGCAGGACGAGTGGGCCACGCTTGTTTATATCAGCACACACCCGGCACGTGGTGTTCAGCTGGTAAAGACCTCCTGATCTCACACGGGCCGGCAGCTGCTGGGAGCTGGGGAGCTTCCTGTGGGATACTGGGGGTTTCCATAGCAGCTGTGTATCGGATAATTTACATGAAAATACCAGGTTTTTGAAGGCGGGTGCTTAGCAAATGTTGGCTAAATGGGTGCAGCCTCAGAGGGGAAAATGTTCTGAGTTGCTTTAAGCTGGCTATTTAATTATTCTGAAGGAAAACTGTCTTAAGACTTAGTGGGCTGTGAGCCTGTGGCAAACACAGCTCTGCAAAGCAGCACTTTCAGTCACCTGGGTGCTCTGGCCATCTGCTGGGGCTGTGTTCTTATCCCCCCGCCTTTCCAGAGTCTGACTCTGACATGCTGAATTTCTTATCATTCATGGGACAGATGAGGCTTCGTTACTTGCCTAGCAGCCACGAAACCCTAACAAGATCTGGAAAGAGTCAGTCTCAGGGGTCCACGGGTCTGGGCGGTTCATGGTGGGGCCTCCGCACAGATTTGTCCTGTGTTCCCCAGTGGGGCCCAGAGGCAGGTGGAGGTGGGTGTGGCAGGGCAGCAGTGCAGATGTGCTGGCCGGTCCCACCCTCTGAACTGGGAAGAGCTAATGAGGAGAGGAAAGGTTGAGGCGCCTGGGGACACAGGCACGTGGTGAGGCAAATGTTCCAAGGACAGCCACAGCCAGGACTCAGACACAGCGGTGGGGACTGGGAGTGTGGAGTGTGGAGTAAAGACAGCCCTGCAGCGACTGCCTTCTTTTTTTCCCCCTCTTTTTATGATTCAGTTTGGCCATCTGTCTCTGGACAGGGGGAGGTCAGGTGGAAGGGACAACTGGGCTTGGCAGCTCATAAAAGTGAGGCATTCAGCATGGAGAACACCCAGTCTCTTCATCAAGATTAACTTGCCCAAGGAATAGTATATGTCAGAGTGTTACAATTTCCATAAGAAAGCGGGAGAAAGACCGTATAGGGATCTGCTGATGTGTCTCCAGAGCACACAGGAAACTCAAGTAAGAGTTTGCCTCTGGAGAAGAGAACTGCATGAGTGGGAAACAGGGGTAGGAAGGAGATTTTTTCATTGTATGCCTTTTTGTTCCTTTTAGATTTTGAAATTACCCAAATGTATTGATGTGTGTGTGTGTAAAACCCAACACCCAAAGTCCCTGAGAAAACCTTTCTGAAAGAGTAAGCAAAGCTTAAAGTTTATTGCAAGAATCAAGTTTTGCTTGCAGAATAAACACAGAAAACCATTTCATTCAGAGCACAGAAATGAAAAAGGTGCTTATAGGAAGGAAAGAAGGAAGAAAGAAGGAAGGATGGAGGGAGGGATGGAGGGAGGATGAAAGGAAAAAGGGAGAGAGGGCAGAAGGAAAGAGGAAGGGAAGGAGGGACGAAGGAAGGAAGGAAGCAATGAAAAAGGAAGGAAGGAGGGACGGGGGAAGGAGGGAGGAGGGAGGAGAAGAAGGAAAGAGGAAGGAAGGATGGGAGGAAGGAAGGAAGGAAAGGAGGCAGGGTCGGGGGTAGGGAGGAAGAAAGTGGCACTCATCCGCATACAGCTGCTACATGTACGATGCTTGCCCCTGGCTCTGCTCGACCAACACATACTCTACTATCCTACTAATCAAACAAAAAAGCCAAGAAAGTTATGCTCACCCGGTTATTCTCAAATAATTCCAAGATGAAGGTAATAGCACTGCTGTTGATGCCGATGAACAGATTAGCACAAGATAAAGCCACATAGGCTGTGCTGGGGACATCAAACCGGAAGGATGCTGGGTACATCATGGGAATGACCGCCCATCTGTGTGAAATGAGACAACTCAGAGTGATGGAGTTCCACATTCCATTCCACCTACAATACGTCTGGATATAATGCACTCCCCTTACACCTGAGGTGATGTGTGTGAACTGGCCAGAGTCCCAGGGGACCAGAGAGATACTCCATTTGTTGGTCTCTGTGCCTCAACTTTAAATGGAGATAATGATGCCTGCCTTGACCACTTCATGGGGTTTTGTGAGGAGCAAATGGGCTGCTAGCTGTGTATATACTCTGTAAACTACAAAGCCCTGTACAATTCATAGGAGGGTTCTCCAGCCTGCAACACCTCCCACTCTAGCCTGGGTCAGCAAAGCCCAGCTGAGGTCATCTCAGATGAGCCCAGTGAGCTCATCTTCACAGCTTATAGTCAGGTTGGTTCCCAAATTCTCTATTTCCAAGAGAAAGATGTGGAGAACAATGCTTTGGCAAGGCTCTACTGGCCCACAGAGGAAGGACCAGGATCACTATTTTCTTTTACAGATGAGGAAACTGAGGCCGAGATGGATGAATTACTCATTCAAATTTACACACGTGGGAAAGAAAGTTGCATGCTGGGCCCTGTAACTCTGCTGATGTAACCCCTGTGTCATCCTCTGTCCCTGACTCAGGAGGAGCTTTTTGGCCGGAGTCTTCTACTGTGGGCGGTAACTCTTGGCCAGTTCACATGGGGACACTGAGGTGGACAGATTGGCCACAGATGAGTGAGAGTCAGAGCTGGGTGAGGGGTTGGGGAATGGCTGCCCCCAGGCTTTGGTCAAGGCCTCAGTTTGAGTAGGAGATTCAGATCATGTGGGACTTCTCTCATTGTCACTGACAGGACCAGGCCTCAGAGATACCTCTGTCAGTGGAGTCAGAATCAGAAGCCAGACAGATCCCTGGTTATCAGCTTCAGACCCTACCTGGGGCCGGAAGCTAAACTTGTGGGTGCTACCACCACAGGACAGCCCAGGTTTTCTGTCAGGAGATGATCCCCCACCCCCACCACCAGGCTTCTCTTCAGAGGCATTAGCTAATGGCCCAAACGGCTTACCCATACAGCAGGAGCAGTGCCACAAGGGCAGGAAGGTTTTCTGGAGAAGTGTAGGCTTTCTTCTGAAACCCGATGAAGATGCCCACCACCAGCCCAGCACTCACGGAATAATTCATCTCGGAAAGAGAAGAGGAGAGCAAGTCACTTAACCTCTCAGACCTGCTGCCAGCTCTGCAAAATGAGGGGTGGGGCCAGGCTCCTCCAGCTCGTAGGGTCTGGGATTCTGATTCGACTTGCTTTTTAAACAGTTCTTGGTTGGCAAACATATGTTAAGCTGTCACTAGTCCTCCTACCCCACCCCATGCCCTACCTCCCTGCCAAGGGAACCTTTAGTTTGTATCTTTTGAAAGGATCAATTACAAAATTCTGCCTGGTCTCTCACTCTTTCTATTTGGTCATAAAGTTTTGTTGATTCTTCTTTCTAAGCATGTCTTCAGAATTCAGAAAAACTTAAAGCCTAGTTCTTGGCTTCACAAAGCTCAAATAAATAATGATACCCTTTTTAAACAATTTAGTCCTACAGCCACTATACTGGGCACAGAAAGGGGACGGCAACAGTGGGGTTAGGGGAGGAGCCATGGTGATCAGGAGCAGGGCAAGAACCAGAGACGGGCTTCCTCAGGGGGCAACCTGCCGTGGGGTGTGGAGGCCTCAACGGGATGAGAAAGATATCCTTACAGGAGGCTGATCTGGTGCAGGGTATCAGAGCCAGAGCAGAACGAGGAGGACCTGCATGCAGCAGAGGCAGCTGGAGCAGGGAGAGGACGGCATCCACATGGGGAGGGGATGGTGGCAGAGTTGGGCACTGTTCAGGTGTATAGGTCCGGTAGATAAATGAGTTGGGAGTGAGAGAAGCCAGCGTCTCACTGTTGGAGAAGGGAGTTACAGATGTGGAAAGAAAAAAAACTAGAATGAGCCCTGTGGAGTTGGTTTTGGAGAGCTCATAGTGTTCACTGTATAG
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Task1_train_1146
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A change on Chromosome 1 affects gene ABCA4 (ATP binding cassette subfamily A member 4). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; not provided
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GCTGAAATTGAACTTCCTCCACCACGGCTCCCCCAGCCCCTGCAGCCTGGCTCTTCCCGCTGCCTCTGGCCTGCAGCATGTTATCTGCCTCGCTCCTCTGCTGCTCTGTCACACGCTGTATTATGGAGGATCATACACTGTGGCTTATATCGTTGCAAACTTCGTGGGCAGGTCCTTTTCCGACTGGAACGGGAGCCTCTGGAGGGCAGGACGAGTGGGCCACGCTTGTTTATATCAGCACACACCCGGCACGTGGTGTTCAGCTGGTAAAGACCTCCTGATCTCACACGGGCCGGCAGCTGCTGGGAGCTGGGGAGCTTCCTGTGGGATACTGGGGGTTTCCATAGCAGCTGTGTATCGGATAATTTACATGAAAATACCAGGTTTTTGAAGGCGGGTGCTTAGCAAATGTTGGCTAAATGGGTGCAGCCTCAGAGGGGAAAATGTTCTGAGTTGCTTTAAGCTGGCTATTTAATTATTCTGAAGGAAAACTGTCTTAAGACTTAGTGGGCTGTGAGCCTGTGGCAAACACAGCTCTGCAAAGCAGCACTTTCAGTCACCTGGGTGCTCTGGCCATCTGCTGGGGCTGTGTTCTTATCCCCCCGCCTTTCCAGAGTCTGACTCTGACATGCTGAATTTCTTATCATTCATGGGACAGATGAGGCTTCGTTACTTGCCTAGCAGCCACGAAACCCTAACAAGATCTGGAAAGAGTCAGTCTCAGGGGTCCACGGGTCTGGGCGGTTCATGGTGGGGCCTCCGCACAGATTTGTCCTGTGTTCCCCAGTGGGGCCCAGAGGCAGGTGGAGGTGGGTGTGGCAGGGCAGCAGTGCAGATGTGCTGGCCGGTCCCACCCTCTGAACTGGGAAGAGCTAATGAGGAGAGGAAAGGTTGAGGCGCCTGGGGACACAGGCACGTGGTGAGGCAAATGTTCCAAGGACAGCCACAGCCAGGACTCAGACACAGCGGTGGGGACTGGGAGTGTGGAGTGTGGAGTAAAGACAGCCCTGCAGCGACTGCCTTCTTTTTTTCCCCCTCTTTTTATGATTCAGTTTGGCCATCTGTCTCTGGACAGGGGGAGGTCAGGTGGAAGGGACAACTGGGCTTGGCAGCTCATAAAAGTGAGGCATTCAGCATGGAGAACACCCAGTCTCTTCATCAAGATTAACTTGCCCAAGGAATAGTATATGTCAGAGTGTTACAATTTCCATAAGAAAGCGGGAGAAAGACCGTATAGGGATCTGCTGATGTGTCTCCAGAGCACACAGGAAACTCAAGTAAGAGTTTGCCTCTGGAGAAGAGAACTGCATGAGTGGGAAACAGGGGTAGGAAGGAGATTTTTTCATTGTATGCCTTTTTGTTCCTTTTAGATTTTGAAATTACCCAAATGTATTGATGTGTGTGTGTGTAAAACCCAACACCCAAAGTCCCTGAGAAAACCTTTCTGAAAGAGTAAGCAAAGCTTAAAGTTTATTGCAAGAATCAAGTTTTGCTTGCAGAATAAACACAGAAAACCATTTCATTCAGAGCACAGAAATGAAAAAGGTGCTTATAGGAAGGAAAGAAGGAAGAAAGAAGGAAGGATGGAGGGAGGGATGGAGGGAGGATGAAAGGAAAAAGGGAGAGAGGGCAGAAGGAAAGAGGAAGGGAAGGAGGGACGAAGGAAGGAAGGAAGCAATGAAAAAGGAAGGAAGGAGGGACGGGGGAAGGAGGGAGGAGGGAGGAGAAGAAGGAAAGAGGAAGGAAGGATGGGAGGAAGGAAGGAAGGAAAGGAGGCAGGGTCGGGGGTAGGGAGGAAGAAAGTGGCACTCATCCGCATACAGCTGCTACATGTACGATGCTTGCCCCTGGCTCTGCTCGACCAACACATACTCTACTATCCTACTAATCAAACAAAAAAGCCAAGAAAGTTATGCTCACCCGGTTATTCTCAAATAATTCCAAGATGAAGGTAATAGCACTGCTGTTGATGCCGATGAACAGATTAGCACAAGATAAAGCCACATAGGCTGTGCTGGGGACATCAAACAGGAAGGATGCTGGGTACATCATGGGAATGACCGCCCATCTGTGTGAAATGAGACAACTCAGAGTGATGGAGTTCCACATTCCATTCCACCTACAATACGTCTGGATATAATGCACTCCCCTTACACCTGAGGTGATGTGTGTGAACTGGCCAGAGTCCCAGGGGACCAGAGAGATACTCCATTTGTTGGTCTCTGTGCCTCAACTTTAAATGGAGATAATGATGCCTGCCTTGACCACTTCATGGGGTTTTGTGAGGAGCAAATGGGCTGCTAGCTGTGTATATACTCTGTAAACTACAAAGCCCTGTACAATTCATAGGAGGGTTCTCCAGCCTGCAACACCTCCCACTCTAGCCTGGGTCAGCAAAGCCCAGCTGAGGTCATCTCAGATGAGCCCAGTGAGCTCATCTTCACAGCTTATAGTCAGGTTGGTTCCCAAATTCTCTATTTCCAAGAGAAAGATGTGGAGAACAATGCTTTGGCAAGGCTCTACTGGCCCACAGAGGAAGGACCAGGATCACTATTTTCTTTTACAGATGAGGAAACTGAGGCCGAGATGGATGAATTACTCATTCAAATTTACACACGTGGGAAAGAAAGTTGCATGCTGGGCCCTGTAACTCTGCTGATGTAACCCCTGTGTCATCCTCTGTCCCTGACTCAGGAGGAGCTTTTTGGCCGGAGTCTTCTACTGTGGGCGGTAACTCTTGGCCAGTTCACATGGGGACACTGAGGTGGACAGATTGGCCACAGATGAGTGAGAGTCAGAGCTGGGTGAGGGGTTGGGGAATGGCTGCCCCCAGGCTTTGGTCAAGGCCTCAGTTTGAGTAGGAGATTCAGATCATGTGGGACTTCTCTCATTGTCACTGACAGGACCAGGCCTCAGAGATACCTCTGTCAGTGGAGTCAGAATCAGAAGCCAGACAGATCCCTGGTTATCAGCTTCAGACCCTACCTGGGGCCGGAAGCTAAACTTGTGGGTGCTACCACCACAGGACAGCCCAGGTTTTCTGTCAGGAGATGATCCCCCACCCCCACCACCAGGCTTCTCTTCAGAGGCATTAGCTAATGGCCCAAACGGCTTACCCATACAGCAGGAGCAGTGCCACAAGGGCAGGAAGGTTTTCTGGAGAAGTGTAGGCTTTCTTCTGAAACCCGATGAAGATGCCCACCACCAGCCCAGCACTCACGGAATAATTCATCTCGGAAAGAGAAGAGGAGAGCAAGTCACTTAACCTCTCAGACCTGCTGCCAGCTCTGCAAAATGAGGGGTGGGGCCAGGCTCCTCCAGCTCGTAGGGTCTGGGATTCTGATTCGACTTGCTTTTTAAACAGTTCTTGGTTGGCAAACATATGTTAAGCTGTCACTAGTCCTCCTACCCCACCCCATGCCCTACCTCCCTGCCAAGGGAACCTTTAGTTTGTATCTTTTGAAAGGATCAATTACAAAATTCTGCCTGGTCTCTCACTCTTTCTATTTGGTCATAAAGTTTTGTTGATTCTTCTTTCTAAGCATGTCTTCAGAATTCAGAAAAACTTAAAGCCTAGTTCTTGGCTTCACAAAGCTCAAATAAATAATGATACCCTTTTTAAACAATTTAGTCCTACAGCCACTATACTGGGCACAGAAAGGGGACGGCAACAGTGGGGTTAGGGGAGGAGCCATGGTGATCAGGAGCAGGGCAAGAACCAGAGACGGGCTTCCTCAGGGGGCAACCTGCCGTGGGGTGTGGAGGCCTCAACGGGATGAGAAAGATATCCTTACAGGAGGCTGATCTGGTGCAGGGTATCAGAGCCAGAGCAGAACGAGGAGGACCTGCATGCAGCAGAGGCAGCTGGAGCAGGGAGAGGACGGCATCCACATGGGGAGGGGATGGTGGCAGAGTTGGGCACTGTTCAGGTGTATAGGTCCGGTAGATAAATGAGTTGGGAGTGAGAGAAGCCAGCGTCTCACTGTTGGAGAAGGGAGTTACAGATGTGGAAAGAAAAAAAACTAGAATGAGCCCTGTGGAGTTGGTTTTGGAGAGCTCATAGTGTTCACTGTATAGGTAGATAGAGAACTATAGA
|
GCTGAAATTGAACTTCCTCCACCACGGCTCCCCCAGCCCCTGCAGCCTGGCTCTTCCCGCTGCCTCTGGCCTGCAGCATGTTATCTGCCTCGCTCCTCTGCTGCTCTGTCACACGCTGTATTATGGAGGATCATACACTGTGGCTTATATCGTTGCAAACTTCGTGGGCAGGTCCTTTTCCGACTGGAACGGGAGCCTCTGGAGGGCAGGACGAGTGGGCCACGCTTGTTTATATCAGCACACACCCGGCACGTGGTGTTCAGCTGGTAAAGACCTCCTGATCTCACACGGGCCGGCAGCTGCTGGGAGCTGGGGAGCTTCCTGTGGGATACTGGGGGTTTCCATAGCAGCTGTGTATCGGATAATTTACATGAAAATACCAGGTTTTTGAAGGCGGGTGCTTAGCAAATGTTGGCTAAATGGGTGCAGCCTCAGAGGGGAAAATGTTCTGAGTTGCTTTAAGCTGGCTATTTAATTATTCTGAAGGAAAACTGTCTTAAGACTTAGTGGGCTGTGAGCCTGTGGCAAACACAGCTCTGCAAAGCAGCACTTTCAGTCACCTGGGTGCTCTGGCCATCTGCTGGGGCTGTGTTCTTATCCCCCCGCCTTTCCAGAGTCTGACTCTGACATGCTGAATTTCTTATCATTCATGGGACAGATGAGGCTTCGTTACTTGCCTAGCAGCCACGAAACCCTAACAAGATCTGGAAAGAGTCAGTCTCAGGGGTCCACGGGTCTGGGCGGTTCATGGTGGGGCCTCCGCACAGATTTGTCCTGTGTTCCCCAGTGGGGCCCAGAGGCAGGTGGAGGTGGGTGTGGCAGGGCAGCAGTGCAGATGTGCTGGCCGGTCCCACCCTCTGAACTGGGAAGAGCTAATGAGGAGAGGAAAGGTTGAGGCGCCTGGGGACACAGGCACGTGGTGAGGCAAATGTTCCAAGGACAGCCACAGCCAGGACTCAGACACAGCGGTGGGGACTGGGAGTGTGGAGTGTGGAGTAAAGACAGCCCTGCAGCGACTGCCTTCTTTTTTTCCCCCTCTTTTTATGATTCAGTTTGGCCATCTGTCTCTGGACAGGGGGAGGTCAGGTGGAAGGGACAACTGGGCTTGGCAGCTCATAAAAGTGAGGCATTCAGCATGGAGAACACCCAGTCTCTTCATCAAGATTAACTTGCCCAAGGAATAGTATATGTCAGAGTGTTACAATTTCCATAAGAAAGCGGGAGAAAGACCGTATAGGGATCTGCTGATGTGTCTCCAGAGCACACAGGAAACTCAAGTAAGAGTTTGCCTCTGGAGAAGAGAACTGCATGAGTGGGAAACAGGGGTAGGAAGGAGATTTTTTCATTGTATGCCTTTTTGTTCCTTTTAGATTTTGAAATTACCCAAATGTATTGATGTGTGTGTGTGTAAAACCCAACACCCAAAGTCCCTGAGAAAACCTTTCTGAAAGAGTAAGCAAAGCTTAAAGTTTATTGCAAGAATCAAGTTTTGCTTGCAGAATAAACACAGAAAACCATTTCATTCAGAGCACAGAAATGAAAAAGGTGCTTATAGGAAGGAAAGAAGGAAGAAAGAAGGAAGGATGGAGGGAGGGATGGAGGGAGGATGAAAGGAAAAAGGGAGAGAGGGCAGAAGGAAAGAGGAAGGGAAGGAGGGACGAAGGAAGGAAGGAAGCAATGAAAAAGGAAGGAAGGAGGGACGGGGGAAGGAGGGAGGAGGGAGGAGAAGAAGGAAAGAGGAAGGAAGGATGGGAGGAAGGAAGGAAGGAAAGGAGGCAGGGTCGGGGGTAGGGAGGAAGAAAGTGGCACTCATCCGCATACAGCTGCTACATGTACGATGCTTGCCCCTGGCTCTGCTCGACCAACACATACTCTACTATCCTACTAATCAAACAAAAAAGCCAAGAAAGTTATGCTCACCCGGTTATTCTCAAATAATTCCAAGATGAAGGTAATAGCACTGCTGTTGATGCCGATGAACAGATTAGCACAAGATAAAGCCACATAGGCTGTGCTGGGGACATCAAACAGGAAGGATGCTGGGTACACCATGGGAATGACCGCCCATCTGTGTGAAATGAGACAACTCAGAGTGATGGAGTTCCACATTCCATTCCACCTACAATACGTCTGGATATAATGCACTCCCCTTACACCTGAGGTGATGTGTGTGAACTGGCCAGAGTCCCAGGGGACCAGAGAGATACTCCATTTGTTGGTCTCTGTGCCTCAACTTTAAATGGAGATAATGATGCCTGCCTTGACCACTTCATGGGGTTTTGTGAGGAGCAAATGGGCTGCTAGCTGTGTATATACTCTGTAAACTACAAAGCCCTGTACAATTCATAGGAGGGTTCTCCAGCCTGCAACACCTCCCACTCTAGCCTGGGTCAGCAAAGCCCAGCTGAGGTCATCTCAGATGAGCCCAGTGAGCTCATCTTCACAGCTTATAGTCAGGTTGGTTCCCAAATTCTCTATTTCCAAGAGAAAGATGTGGAGAACAATGCTTTGGCAAGGCTCTACTGGCCCACAGAGGAAGGACCAGGATCACTATTTTCTTTTACAGATGAGGAAACTGAGGCCGAGATGGATGAATTACTCATTCAAATTTACACACGTGGGAAAGAAAGTTGCATGCTGGGCCCTGTAACTCTGCTGATGTAACCCCTGTGTCATCCTCTGTCCCTGACTCAGGAGGAGCTTTTTGGCCGGAGTCTTCTACTGTGGGCGGTAACTCTTGGCCAGTTCACATGGGGACACTGAGGTGGACAGATTGGCCACAGATGAGTGAGAGTCAGAGCTGGGTGAGGGGTTGGGGAATGGCTGCCCCCAGGCTTTGGTCAAGGCCTCAGTTTGAGTAGGAGATTCAGATCATGTGGGACTTCTCTCATTGTCACTGACAGGACCAGGCCTCAGAGATACCTCTGTCAGTGGAGTCAGAATCAGAAGCCAGACAGATCCCTGGTTATCAGCTTCAGACCCTACCTGGGGCCGGAAGCTAAACTTGTGGGTGCTACCACCACAGGACAGCCCAGGTTTTCTGTCAGGAGATGATCCCCCACCCCCACCACCAGGCTTCTCTTCAGAGGCATTAGCTAATGGCCCAAACGGCTTACCCATACAGCAGGAGCAGTGCCACAAGGGCAGGAAGGTTTTCTGGAGAAGTGTAGGCTTTCTTCTGAAACCCGATGAAGATGCCCACCACCAGCCCAGCACTCACGGAATAATTCATCTCGGAAAGAGAAGAGGAGAGCAAGTCACTTAACCTCTCAGACCTGCTGCCAGCTCTGCAAAATGAGGGGTGGGGCCAGGCTCCTCCAGCTCGTAGGGTCTGGGATTCTGATTCGACTTGCTTTTTAAACAGTTCTTGGTTGGCAAACATATGTTAAGCTGTCACTAGTCCTCCTACCCCACCCCATGCCCTACCTCCCTGCCAAGGGAACCTTTAGTTTGTATCTTTTGAAAGGATCAATTACAAAATTCTGCCTGGTCTCTCACTCTTTCTATTTGGTCATAAAGTTTTGTTGATTCTTCTTTCTAAGCATGTCTTCAGAATTCAGAAAAACTTAAAGCCTAGTTCTTGGCTTCACAAAGCTCAAATAAATAATGATACCCTTTTTAAACAATTTAGTCCTACAGCCACTATACTGGGCACAGAAAGGGGACGGCAACAGTGGGGTTAGGGGAGGAGCCATGGTGATCAGGAGCAGGGCAAGAACCAGAGACGGGCTTCCTCAGGGGGCAACCTGCCGTGGGGTGTGGAGGCCTCAACGGGATGAGAAAGATATCCTTACAGGAGGCTGATCTGGTGCAGGGTATCAGAGCCAGAGCAGAACGAGGAGGACCTGCATGCAGCAGAGGCAGCTGGAGCAGGGAGAGGACGGCATCCACATGGGGAGGGGATGGTGGCAGAGTTGGGCACTGTTCAGGTGTATAGGTCCGGTAGATAAATGAGTTGGGAGTGAGAGAAGCCAGCGTCTCACTGTTGGAGAAGGGAGTTACAGATGTGGAAAGAAAAAAAACTAGAATGAGCCCTGTGGAGTTGGTTTTGGAGAGCTCATAGTGTTCACTGTATAGGTAGATAGAGAACTATAGA
|
Task1_train_1147
|
Assess the clinical impact of this variant on gene ABCA4 (ATP binding cassette subfamily A member 4), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable.
|
Pathogenic; not provided
|
TGAACTTCCTCCACCACGGCTCCCCCAGCCCCTGCAGCCTGGCTCTTCCCGCTGCCTCTGGCCTGCAGCATGTTATCTGCCTCGCTCCTCTGCTGCTCTGTCACACGCTGTATTATGGAGGATCATACACTGTGGCTTATATCGTTGCAAACTTCGTGGGCAGGTCCTTTTCCGACTGGAACGGGAGCCTCTGGAGGGCAGGACGAGTGGGCCACGCTTGTTTATATCAGCACACACCCGGCACGTGGTGTTCAGCTGGTAAAGACCTCCTGATCTCACACGGGCCGGCAGCTGCTGGGAGCTGGGGAGCTTCCTGTGGGATACTGGGGGTTTCCATAGCAGCTGTGTATCGGATAATTTACATGAAAATACCAGGTTTTTGAAGGCGGGTGCTTAGCAAATGTTGGCTAAATGGGTGCAGCCTCAGAGGGGAAAATGTTCTGAGTTGCTTTAAGCTGGCTATTTAATTATTCTGAAGGAAAACTGTCTTAAGACTTAGTGGGCTGTGAGCCTGTGGCAAACACAGCTCTGCAAAGCAGCACTTTCAGTCACCTGGGTGCTCTGGCCATCTGCTGGGGCTGTGTTCTTATCCCCCCGCCTTTCCAGAGTCTGACTCTGACATGCTGAATTTCTTATCATTCATGGGACAGATGAGGCTTCGTTACTTGCCTAGCAGCCACGAAACCCTAACAAGATCTGGAAAGAGTCAGTCTCAGGGGTCCACGGGTCTGGGCGGTTCATGGTGGGGCCTCCGCACAGATTTGTCCTGTGTTCCCCAGTGGGGCCCAGAGGCAGGTGGAGGTGGGTGTGGCAGGGCAGCAGTGCAGATGTGCTGGCCGGTCCCACCCTCTGAACTGGGAAGAGCTAATGAGGAGAGGAAAGGTTGAGGCGCCTGGGGACACAGGCACGTGGTGAGGCAAATGTTCCAAGGACAGCCACAGCCAGGACTCAGACACAGCGGTGGGGACTGGGAGTGTGGAGTGTGGAGTAAAGACAGCCCTGCAGCGACTGCCTTCTTTTTTTCCCCCTCTTTTTATGATTCAGTTTGGCCATCTGTCTCTGGACAGGGGGAGGTCAGGTGGAAGGGACAACTGGGCTTGGCAGCTCATAAAAGTGAGGCATTCAGCATGGAGAACACCCAGTCTCTTCATCAAGATTAACTTGCCCAAGGAATAGTATATGTCAGAGTGTTACAATTTCCATAAGAAAGCGGGAGAAAGACCGTATAGGGATCTGCTGATGTGTCTCCAGAGCACACAGGAAACTCAAGTAAGAGTTTGCCTCTGGAGAAGAGAACTGCATGAGTGGGAAACAGGGGTAGGAAGGAGATTTTTTCATTGTATGCCTTTTTGTTCCTTTTAGATTTTGAAATTACCCAAATGTATTGATGTGTGTGTGTGTAAAACCCAACACCCAAAGTCCCTGAGAAAACCTTTCTGAAAGAGTAAGCAAAGCTTAAAGTTTATTGCAAGAATCAAGTTTTGCTTGCAGAATAAACACAGAAAACCATTTCATTCAGAGCACAGAAATGAAAAAGGTGCTTATAGGAAGGAAAGAAGGAAGAAAGAAGGAAGGATGGAGGGAGGGATGGAGGGAGGATGAAAGGAAAAAGGGAGAGAGGGCAGAAGGAAAGAGGAAGGGAAGGAGGGACGAAGGAAGGAAGGAAGCAATGAAAAAGGAAGGAAGGAGGGACGGGGGAAGGAGGGAGGAGGGAGGAGAAGAAGGAAAGAGGAAGGAAGGATGGGAGGAAGGAAGGAAGGAAAGGAGGCAGGGTCGGGGGTAGGGAGGAAGAAAGTGGCACTCATCCGCATACAGCTGCTACATGTACGATGCTTGCCCCTGGCTCTGCTCGACCAACACATACTCTACTATCCTACTAATCAAACAAAAAAGCCAAGAAAGTTATGCTCACCCGGTTATTCTCAAATAATTCCAAGATGAAGGTAATAGCACTGCTGTTGATGCCGATGAACAGATTAGCACAAGATAAAGCCACATAGGCTGTGCTGGGGACATCAAACAGGAAGGATGCTGGGTACATCATGGGAATGACCGCCCATCTGTGTGAAATGAGACAACTCAGAGTGATGGAGTTCCACATTCCATTCCACCTACAATACGTCTGGATATAATGCACTCCCCTTACACCTGAGGTGATGTGTGTGAACTGGCCAGAGTCCCAGGGGACCAGAGAGATACTCCATTTGTTGGTCTCTGTGCCTCAACTTTAAATGGAGATAATGATGCCTGCCTTGACCACTTCATGGGGTTTTGTGAGGAGCAAATGGGCTGCTAGCTGTGTATATACTCTGTAAACTACAAAGCCCTGTACAATTCATAGGAGGGTTCTCCAGCCTGCAACACCTCCCACTCTAGCCTGGGTCAGCAAAGCCCAGCTGAGGTCATCTCAGATGAGCCCAGTGAGCTCATCTTCACAGCTTATAGTCAGGTTGGTTCCCAAATTCTCTATTTCCAAGAGAAAGATGTGGAGAACAATGCTTTGGCAAGGCTCTACTGGCCCACAGAGGAAGGACCAGGATCACTATTTTCTTTTACAGATGAGGAAACTGAGGCCGAGATGGATGAATTACTCATTCAAATTTACACACGTGGGAAAGAAAGTTGCATGCTGGGCCCTGTAACTCTGCTGATGTAACCCCTGTGTCATCCTCTGTCCCTGACTCAGGAGGAGCTTTTTGGCCGGAGTCTTCTACTGTGGGCGGTAACTCTTGGCCAGTTCACATGGGGACACTGAGGTGGACAGATTGGCCACAGATGAGTGAGAGTCAGAGCTGGGTGAGGGGTTGGGGAATGGCTGCCCCCAGGCTTTGGTCAAGGCCTCAGTTTGAGTAGGAGATTCAGATCATGTGGGACTTCTCTCATTGTCACTGACAGGACCAGGCCTCAGAGATACCTCTGTCAGTGGAGTCAGAATCAGAAGCCAGACAGATCCCTGGTTATCAGCTTCAGACCCTACCTGGGGCCGGAAGCTAAACTTGTGGGTGCTACCACCACAGGACAGCCCAGGTTTTCTGTCAGGAGATGATCCCCCACCCCCACCACCAGGCTTCTCTTCAGAGGCATTAGCTAATGGCCCAAACGGCTTACCCATACAGCAGGAGCAGTGCCACAAGGGCAGGAAGGTTTTCTGGAGAAGTGTAGGCTTTCTTCTGAAACCCGATGAAGATGCCCACCACCAGCCCAGCACTCACGGAATAATTCATCTCGGAAAGAGAAGAGGAGAGCAAGTCACTTAACCTCTCAGACCTGCTGCCAGCTCTGCAAAATGAGGGGTGGGGCCAGGCTCCTCCAGCTCGTAGGGTCTGGGATTCTGATTCGACTTGCTTTTTAAACAGTTCTTGGTTGGCAAACATATGTTAAGCTGTCACTAGTCCTCCTACCCCACCCCATGCCCTACCTCCCTGCCAAGGGAACCTTTAGTTTGTATCTTTTGAAAGGATCAATTACAAAATTCTGCCTGGTCTCTCACTCTTTCTATTTGGTCATAAAGTTTTGTTGATTCTTCTTTCTAAGCATGTCTTCAGAATTCAGAAAAACTTAAAGCCTAGTTCTTGGCTTCACAAAGCTCAAATAAATAATGATACCCTTTTTAAACAATTTAGTCCTACAGCCACTATACTGGGCACAGAAAGGGGACGGCAACAGTGGGGTTAGGGGAGGAGCCATGGTGATCAGGAGCAGGGCAAGAACCAGAGACGGGCTTCCTCAGGGGGCAACCTGCCGTGGGGTGTGGAGGCCTCAACGGGATGAGAAAGATATCCTTACAGGAGGCTGATCTGGTGCAGGGTATCAGAGCCAGAGCAGAACGAGGAGGACCTGCATGCAGCAGAGGCAGCTGGAGCAGGGAGAGGACGGCATCCACATGGGGAGGGGATGGTGGCAGAGTTGGGCACTGTTCAGGTGTATAGGTCCGGTAGATAAATGAGTTGGGAGTGAGAGAAGCCAGCGTCTCACTGTTGGAGAAGGGAGTTACAGATGTGGAAAGAAAAAAAACTAGAATGAGCCCTGTGGAGTTGGTTTTGGAGAGCTCATAGTGTTCACTGTATAGGTAGATAGAGAACTATAGATAGAGGTG
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TGAACTTCCTCCACCACGGCTCCCCCAGCCCCTGCAGCCTGGCTCTTCCCGCTGCCTCTGGCCTGCAGCATGTTATCTGCCTCGCTCCTCTGCTGCTCTGTCACACGCTGTATTATGGAGGATCATACACTGTGGCTTATATCGTTGCAAACTTCGTGGGCAGGTCCTTTTCCGACTGGAACGGGAGCCTCTGGAGGGCAGGACGAGTGGGCCACGCTTGTTTATATCAGCACACACCCGGCACGTGGTGTTCAGCTGGTAAAGACCTCCTGATCTCACACGGGCCGGCAGCTGCTGGGAGCTGGGGAGCTTCCTGTGGGATACTGGGGGTTTCCATAGCAGCTGTGTATCGGATAATTTACATGAAAATACCAGGTTTTTGAAGGCGGGTGCTTAGCAAATGTTGGCTAAATGGGTGCAGCCTCAGAGGGGAAAATGTTCTGAGTTGCTTTAAGCTGGCTATTTAATTATTCTGAAGGAAAACTGTCTTAAGACTTAGTGGGCTGTGAGCCTGTGGCAAACACAGCTCTGCAAAGCAGCACTTTCAGTCACCTGGGTGCTCTGGCCATCTGCTGGGGCTGTGTTCTTATCCCCCCGCCTTTCCAGAGTCTGACTCTGACATGCTGAATTTCTTATCATTCATGGGACAGATGAGGCTTCGTTACTTGCCTAGCAGCCACGAAACCCTAACAAGATCTGGAAAGAGTCAGTCTCAGGGGTCCACGGGTCTGGGCGGTTCATGGTGGGGCCTCCGCACAGATTTGTCCTGTGTTCCCCAGTGGGGCCCAGAGGCAGGTGGAGGTGGGTGTGGCAGGGCAGCAGTGCAGATGTGCTGGCCGGTCCCACCCTCTGAACTGGGAAGAGCTAATGAGGAGAGGAAAGGTTGAGGCGCCTGGGGACACAGGCACGTGGTGAGGCAAATGTTCCAAGGACAGCCACAGCCAGGACTCAGACACAGCGGTGGGGACTGGGAGTGTGGAGTGTGGAGTAAAGACAGCCCTGCAGCGACTGCCTTCTTTTTTTCCCCCTCTTTTTATGATTCAGTTTGGCCATCTGTCTCTGGACAGGGGGAGGTCAGGTGGAAGGGACAACTGGGCTTGGCAGCTCATAAAAGTGAGGCATTCAGCATGGAGAACACCCAGTCTCTTCATCAAGATTAACTTGCCCAAGGAATAGTATATGTCAGAGTGTTACAATTTCCATAAGAAAGCGGGAGAAAGACCGTATAGGGATCTGCTGATGTGTCTCCAGAGCACACAGGAAACTCAAGTAAGAGTTTGCCTCTGGAGAAGAGAACTGCATGAGTGGGAAACAGGGGTAGGAAGGAGATTTTTTCATTGTATGCCTTTTTGTTCCTTTTAGATTTTGAAATTACCCAAATGTATTGATGTGTGTGTGTGTAAAACCCAACACCCAAAGTCCCTGAGAAAACCTTTCTGAAAGAGTAAGCAAAGCTTAAAGTTTATTGCAAGAATCAAGTTTTGCTTGCAGAATAAACACAGAAAACCATTTCATTCAGAGCACAGAAATGAAAAAGGTGCTTATAGGAAGGAAAGAAGGAAGAAAGAAGGAAGGATGGAGGGAGGGATGGAGGGAGGATGAAAGGAAAAAGGGAGAGAGGGCAGAAGGAAAGAGGAAGGGAAGGAGGGACGAAGGAAGGAAGGAAGCAATGAAAAAGGAAGGAAGGAGGGACGGGGGAAGGAGGGAGGAGGGAGGAGAAGAAGGAAAGAGGAAGGAAGGATGGGAGGAAGGAAGGAAGGAAAGGAGGCAGGGTCGGGGGTAGGGAGGAAGAAAGTGGCACTCATCCGCATACAGCTGCTACATGTACGATGCTTGCCCCTGGCTCTGCTCGACCAACACATACTCTACTATCCTACTAATCAAACAAAAAAGCCAAGAAAGTTATGCTCACCCGGTTATTCTCAAATAATTCCAAGATGAAGGTAATAGCACTGCTGTTGATGCCGATGAACAGATTAGCACAAGATAAAGCCACATAGGCTGTGCTGGGGACATCAAACAGGAAGGATGCTGGGTACATCATGGGATTGACCGCCCATCTGTGTGAAATGAGACAACTCAGAGTGATGGAGTTCCACATTCCATTCCACCTACAATACGTCTGGATATAATGCACTCCCCTTACACCTGAGGTGATGTGTGTGAACTGGCCAGAGTCCCAGGGGACCAGAGAGATACTCCATTTGTTGGTCTCTGTGCCTCAACTTTAAATGGAGATAATGATGCCTGCCTTGACCACTTCATGGGGTTTTGTGAGGAGCAAATGGGCTGCTAGCTGTGTATATACTCTGTAAACTACAAAGCCCTGTACAATTCATAGGAGGGTTCTCCAGCCTGCAACACCTCCCACTCTAGCCTGGGTCAGCAAAGCCCAGCTGAGGTCATCTCAGATGAGCCCAGTGAGCTCATCTTCACAGCTTATAGTCAGGTTGGTTCCCAAATTCTCTATTTCCAAGAGAAAGATGTGGAGAACAATGCTTTGGCAAGGCTCTACTGGCCCACAGAGGAAGGACCAGGATCACTATTTTCTTTTACAGATGAGGAAACTGAGGCCGAGATGGATGAATTACTCATTCAAATTTACACACGTGGGAAAGAAAGTTGCATGCTGGGCCCTGTAACTCTGCTGATGTAACCCCTGTGTCATCCTCTGTCCCTGACTCAGGAGGAGCTTTTTGGCCGGAGTCTTCTACTGTGGGCGGTAACTCTTGGCCAGTTCACATGGGGACACTGAGGTGGACAGATTGGCCACAGATGAGTGAGAGTCAGAGCTGGGTGAGGGGTTGGGGAATGGCTGCCCCCAGGCTTTGGTCAAGGCCTCAGTTTGAGTAGGAGATTCAGATCATGTGGGACTTCTCTCATTGTCACTGACAGGACCAGGCCTCAGAGATACCTCTGTCAGTGGAGTCAGAATCAGAAGCCAGACAGATCCCTGGTTATCAGCTTCAGACCCTACCTGGGGCCGGAAGCTAAACTTGTGGGTGCTACCACCACAGGACAGCCCAGGTTTTCTGTCAGGAGATGATCCCCCACCCCCACCACCAGGCTTCTCTTCAGAGGCATTAGCTAATGGCCCAAACGGCTTACCCATACAGCAGGAGCAGTGCCACAAGGGCAGGAAGGTTTTCTGGAGAAGTGTAGGCTTTCTTCTGAAACCCGATGAAGATGCCCACCACCAGCCCAGCACTCACGGAATAATTCATCTCGGAAAGAGAAGAGGAGAGCAAGTCACTTAACCTCTCAGACCTGCTGCCAGCTCTGCAAAATGAGGGGTGGGGCCAGGCTCCTCCAGCTCGTAGGGTCTGGGATTCTGATTCGACTTGCTTTTTAAACAGTTCTTGGTTGGCAAACATATGTTAAGCTGTCACTAGTCCTCCTACCCCACCCCATGCCCTACCTCCCTGCCAAGGGAACCTTTAGTTTGTATCTTTTGAAAGGATCAATTACAAAATTCTGCCTGGTCTCTCACTCTTTCTATTTGGTCATAAAGTTTTGTTGATTCTTCTTTCTAAGCATGTCTTCAGAATTCAGAAAAACTTAAAGCCTAGTTCTTGGCTTCACAAAGCTCAAATAAATAATGATACCCTTTTTAAACAATTTAGTCCTACAGCCACTATACTGGGCACAGAAAGGGGACGGCAACAGTGGGGTTAGGGGAGGAGCCATGGTGATCAGGAGCAGGGCAAGAACCAGAGACGGGCTTCCTCAGGGGGCAACCTGCCGTGGGGTGTGGAGGCCTCAACGGGATGAGAAAGATATCCTTACAGGAGGCTGATCTGGTGCAGGGTATCAGAGCCAGAGCAGAACGAGGAGGACCTGCATGCAGCAGAGGCAGCTGGAGCAGGGAGAGGACGGCATCCACATGGGGAGGGGATGGTGGCAGAGTTGGGCACTGTTCAGGTGTATAGGTCCGGTAGATAAATGAGTTGGGAGTGAGAGAAGCCAGCGTCTCACTGTTGGAGAAGGGAGTTACAGATGTGGAAAGAAAAAAAACTAGAATGAGCCCTGTGGAGTTGGTTTTGGAGAGCTCATAGTGTTCACTGTATAGGTAGATAGAGAACTATAGATAGAGGTG
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Task1_train_1148
|
Given this context: Chromosome 1, gene ABCA4 (ATP binding cassette subfamily A member 4) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
|
Pathogenic; not provided
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TCCTCCACCACGGCTCCCCCAGCCCCTGCAGCCTGGCTCTTCCCGCTGCCTCTGGCCTGCAGCATGTTATCTGCCTCGCTCCTCTGCTGCTCTGTCACACGCTGTATTATGGAGGATCATACACTGTGGCTTATATCGTTGCAAACTTCGTGGGCAGGTCCTTTTCCGACTGGAACGGGAGCCTCTGGAGGGCAGGACGAGTGGGCCACGCTTGTTTATATCAGCACACACCCGGCACGTGGTGTTCAGCTGGTAAAGACCTCCTGATCTCACACGGGCCGGCAGCTGCTGGGAGCTGGGGAGCTTCCTGTGGGATACTGGGGGTTTCCATAGCAGCTGTGTATCGGATAATTTACATGAAAATACCAGGTTTTTGAAGGCGGGTGCTTAGCAAATGTTGGCTAAATGGGTGCAGCCTCAGAGGGGAAAATGTTCTGAGTTGCTTTAAGCTGGCTATTTAATTATTCTGAAGGAAAACTGTCTTAAGACTTAGTGGGCTGTGAGCCTGTGGCAAACACAGCTCTGCAAAGCAGCACTTTCAGTCACCTGGGTGCTCTGGCCATCTGCTGGGGCTGTGTTCTTATCCCCCCGCCTTTCCAGAGTCTGACTCTGACATGCTGAATTTCTTATCATTCATGGGACAGATGAGGCTTCGTTACTTGCCTAGCAGCCACGAAACCCTAACAAGATCTGGAAAGAGTCAGTCTCAGGGGTCCACGGGTCTGGGCGGTTCATGGTGGGGCCTCCGCACAGATTTGTCCTGTGTTCCCCAGTGGGGCCCAGAGGCAGGTGGAGGTGGGTGTGGCAGGGCAGCAGTGCAGATGTGCTGGCCGGTCCCACCCTCTGAACTGGGAAGAGCTAATGAGGAGAGGAAAGGTTGAGGCGCCTGGGGACACAGGCACGTGGTGAGGCAAATGTTCCAAGGACAGCCACAGCCAGGACTCAGACACAGCGGTGGGGACTGGGAGTGTGGAGTGTGGAGTAAAGACAGCCCTGCAGCGACTGCCTTCTTTTTTTCCCCCTCTTTTTATGATTCAGTTTGGCCATCTGTCTCTGGACAGGGGGAGGTCAGGTGGAAGGGACAACTGGGCTTGGCAGCTCATAAAAGTGAGGCATTCAGCATGGAGAACACCCAGTCTCTTCATCAAGATTAACTTGCCCAAGGAATAGTATATGTCAGAGTGTTACAATTTCCATAAGAAAGCGGGAGAAAGACCGTATAGGGATCTGCTGATGTGTCTCCAGAGCACACAGGAAACTCAAGTAAGAGTTTGCCTCTGGAGAAGAGAACTGCATGAGTGGGAAACAGGGGTAGGAAGGAGATTTTTTCATTGTATGCCTTTTTGTTCCTTTTAGATTTTGAAATTACCCAAATGTATTGATGTGTGTGTGTGTAAAACCCAACACCCAAAGTCCCTGAGAAAACCTTTCTGAAAGAGTAAGCAAAGCTTAAAGTTTATTGCAAGAATCAAGTTTTGCTTGCAGAATAAACACAGAAAACCATTTCATTCAGAGCACAGAAATGAAAAAGGTGCTTATAGGAAGGAAAGAAGGAAGAAAGAAGGAAGGATGGAGGGAGGGATGGAGGGAGGATGAAAGGAAAAAGGGAGAGAGGGCAGAAGGAAAGAGGAAGGGAAGGAGGGACGAAGGAAGGAAGGAAGCAATGAAAAAGGAAGGAAGGAGGGACGGGGGAAGGAGGGAGGAGGGAGGAGAAGAAGGAAAGAGGAAGGAAGGATGGGAGGAAGGAAGGAAGGAAAGGAGGCAGGGTCGGGGGTAGGGAGGAAGAAAGTGGCACTCATCCGCATACAGCTGCTACATGTACGATGCTTGCCCCTGGCTCTGCTCGACCAACACATACTCTACTATCCTACTAATCAAACAAAAAAGCCAAGAAAGTTATGCTCACCCGGTTATTCTCAAATAATTCCAAGATGAAGGTAATAGCACTGCTGTTGATGCCGATGAACAGATTAGCACAAGATAAAGCCACATAGGCTGTGCTGGGGACATCAAACAGGAAGGATGCTGGGTACATCATGGGAATGACCGCCCATCTGTGTGAAATGAGACAACTCAGAGTGATGGAGTTCCACATTCCATTCCACCTACAATACGTCTGGATATAATGCACTCCCCTTACACCTGAGGTGATGTGTGTGAACTGGCCAGAGTCCCAGGGGACCAGAGAGATACTCCATTTGTTGGTCTCTGTGCCTCAACTTTAAATGGAGATAATGATGCCTGCCTTGACCACTTCATGGGGTTTTGTGAGGAGCAAATGGGCTGCTAGCTGTGTATATACTCTGTAAACTACAAAGCCCTGTACAATTCATAGGAGGGTTCTCCAGCCTGCAACACCTCCCACTCTAGCCTGGGTCAGCAAAGCCCAGCTGAGGTCATCTCAGATGAGCCCAGTGAGCTCATCTTCACAGCTTATAGTCAGGTTGGTTCCCAAATTCTCTATTTCCAAGAGAAAGATGTGGAGAACAATGCTTTGGCAAGGCTCTACTGGCCCACAGAGGAAGGACCAGGATCACTATTTTCTTTTACAGATGAGGAAACTGAGGCCGAGATGGATGAATTACTCATTCAAATTTACACACGTGGGAAAGAAAGTTGCATGCTGGGCCCTGTAACTCTGCTGATGTAACCCCTGTGTCATCCTCTGTCCCTGACTCAGGAGGAGCTTTTTGGCCGGAGTCTTCTACTGTGGGCGGTAACTCTTGGCCAGTTCACATGGGGACACTGAGGTGGACAGATTGGCCACAGATGAGTGAGAGTCAGAGCTGGGTGAGGGGTTGGGGAATGGCTGCCCCCAGGCTTTGGTCAAGGCCTCAGTTTGAGTAGGAGATTCAGATCATGTGGGACTTCTCTCATTGTCACTGACAGGACCAGGCCTCAGAGATACCTCTGTCAGTGGAGTCAGAATCAGAAGCCAGACAGATCCCTGGTTATCAGCTTCAGACCCTACCTGGGGCCGGAAGCTAAACTTGTGGGTGCTACCACCACAGGACAGCCCAGGTTTTCTGTCAGGAGATGATCCCCCACCCCCACCACCAGGCTTCTCTTCAGAGGCATTAGCTAATGGCCCAAACGGCTTACCCATACAGCAGGAGCAGTGCCACAAGGGCAGGAAGGTTTTCTGGAGAAGTGTAGGCTTTCTTCTGAAACCCGATGAAGATGCCCACCACCAGCCCAGCACTCACGGAATAATTCATCTCGGAAAGAGAAGAGGAGAGCAAGTCACTTAACCTCTCAGACCTGCTGCCAGCTCTGCAAAATGAGGGGTGGGGCCAGGCTCCTCCAGCTCGTAGGGTCTGGGATTCTGATTCGACTTGCTTTTTAAACAGTTCTTGGTTGGCAAACATATGTTAAGCTGTCACTAGTCCTCCTACCCCACCCCATGCCCTACCTCCCTGCCAAGGGAACCTTTAGTTTGTATCTTTTGAAAGGATCAATTACAAAATTCTGCCTGGTCTCTCACTCTTTCTATTTGGTCATAAAGTTTTGTTGATTCTTCTTTCTAAGCATGTCTTCAGAATTCAGAAAAACTTAAAGCCTAGTTCTTGGCTTCACAAAGCTCAAATAAATAATGATACCCTTTTTAAACAATTTAGTCCTACAGCCACTATACTGGGCACAGAAAGGGGACGGCAACAGTGGGGTTAGGGGAGGAGCCATGGTGATCAGGAGCAGGGCAAGAACCAGAGACGGGCTTCCTCAGGGGGCAACCTGCCGTGGGGTGTGGAGGCCTCAACGGGATGAGAAAGATATCCTTACAGGAGGCTGATCTGGTGCAGGGTATCAGAGCCAGAGCAGAACGAGGAGGACCTGCATGCAGCAGAGGCAGCTGGAGCAGGGAGAGGACGGCATCCACATGGGGAGGGGATGGTGGCAGAGTTGGGCACTGTTCAGGTGTATAGGTCCGGTAGATAAATGAGTTGGGAGTGAGAGAAGCCAGCGTCTCACTGTTGGAGAAGGGAGTTACAGATGTGGAAAGAAAAAAAACTAGAATGAGCCCTGTGGAGTTGGTTTTGGAGAGCTCATAGTGTTCACTGTATAGGTAGATAGAGAACTATAGATAGAGGTGTGTGCA
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TCCTCCACCACGGCTCCCCCAGCCCCTGCAGCCTGGCTCTTCCCGCTGCCTCTGGCCTGCAGCATGTTATCTGCCTCGCTCCTCTGCTGCTCTGTCACACGCTGTATTATGGAGGATCATACACTGTGGCTTATATCGTTGCAAACTTCGTGGGCAGGTCCTTTTCCGACTGGAACGGGAGCCTCTGGAGGGCAGGACGAGTGGGCCACGCTTGTTTATATCAGCACACACCCGGCACGTGGTGTTCAGCTGGTAAAGACCTCCTGATCTCACACGGGCCGGCAGCTGCTGGGAGCTGGGGAGCTTCCTGTGGGATACTGGGGGTTTCCATAGCAGCTGTGTATCGGATAATTTACATGAAAATACCAGGTTTTTGAAGGCGGGTGCTTAGCAAATGTTGGCTAAATGGGTGCAGCCTCAGAGGGGAAAATGTTCTGAGTTGCTTTAAGCTGGCTATTTAATTATTCTGAAGGAAAACTGTCTTAAGACTTAGTGGGCTGTGAGCCTGTGGCAAACACAGCTCTGCAAAGCAGCACTTTCAGTCACCTGGGTGCTCTGGCCATCTGCTGGGGCTGTGTTCTTATCCCCCCGCCTTTCCAGAGTCTGACTCTGACATGCTGAATTTCTTATCATTCATGGGACAGATGAGGCTTCGTTACTTGCCTAGCAGCCACGAAACCCTAACAAGATCTGGAAAGAGTCAGTCTCAGGGGTCCACGGGTCTGGGCGGTTCATGGTGGGGCCTCCGCACAGATTTGTCCTGTGTTCCCCAGTGGGGCCCAGAGGCAGGTGGAGGTGGGTGTGGCAGGGCAGCAGTGCAGATGTGCTGGCCGGTCCCACCCTCTGAACTGGGAAGAGCTAATGAGGAGAGGAAAGGTTGAGGCGCCTGGGGACACAGGCACGTGGTGAGGCAAATGTTCCAAGGACAGCCACAGCCAGGACTCAGACACAGCGGTGGGGACTGGGAGTGTGGAGTGTGGAGTAAAGACAGCCCTGCAGCGACTGCCTTCTTTTTTTCCCCCTCTTTTTATGATTCAGTTTGGCCATCTGTCTCTGGACAGGGGGAGGTCAGGTGGAAGGGACAACTGGGCTTGGCAGCTCATAAAAGTGAGGCATTCAGCATGGAGAACACCCAGTCTCTTCATCAAGATTAACTTGCCCAAGGAATAGTATATGTCAGAGTGTTACAATTTCCATAAGAAAGCGGGAGAAAGACCGTATAGGGATCTGCTGATGTGTCTCCAGAGCACACAGGAAACTCAAGTAAGAGTTTGCCTCTGGAGAAGAGAACTGCATGAGTGGGAAACAGGGGTAGGAAGGAGATTTTTTCATTGTATGCCTTTTTGTTCCTTTTAGATTTTGAAATTACCCAAATGTATTGATGTGTGTGTGTGTAAAACCCAACACCCAAAGTCCCTGAGAAAACCTTTCTGAAAGAGTAAGCAAAGCTTAAAGTTTATTGCAAGAATCAAGTTTTGCTTGCAGAATAAACACAGAAAACCATTTCATTCAGAGCACAGAAATGAAAAAGGTGCTTATAGGAAGGAAAGAAGGAAGAAAGAAGGAAGGATGGAGGGAGGGATGGAGGGAGGATGAAAGGAAAAAGGGAGAGAGGGCAGAAGGAAAGAGGAAGGGAAGGAGGGACGAAGGAAGGAAGGAAGCAATGAAAAAGGAAGGAAGGAGGGACGGGGGAAGGAGGGAGGAGGGAGGAGAAGAAGGAAAGAGGAAGGAAGGATGGGAGGAAGGAAGGAAGGAAAGGAGGCAGGGTCGGGGGTAGGGAGGAAGAAAGTGGCACTCATCCGCATACAGCTGCTACATGTACGATGCTTGCCCCTGGCTCTGCTCGACCAACACATACTCTACTATCCTACTAATCAAACAAAAAAGCCAAGAAAGTTATGCTCACCCGGTTATTCTCAAATAATTCCAAGATGAAGGTAATAGCACTGCTGTTGATGCCGATGAACAGATTAGCACAAGATAAAGCCACATAGGCTGTGCTGGGGACATCAAACAGGAAGGATGCTGGGTACATCATGGGAATGACCTCCCATCTGTGTGAAATGAGACAACTCAGAGTGATGGAGTTCCACATTCCATTCCACCTACAATACGTCTGGATATAATGCACTCCCCTTACACCTGAGGTGATGTGTGTGAACTGGCCAGAGTCCCAGGGGACCAGAGAGATACTCCATTTGTTGGTCTCTGTGCCTCAACTTTAAATGGAGATAATGATGCCTGCCTTGACCACTTCATGGGGTTTTGTGAGGAGCAAATGGGCTGCTAGCTGTGTATATACTCTGTAAACTACAAAGCCCTGTACAATTCATAGGAGGGTTCTCCAGCCTGCAACACCTCCCACTCTAGCCTGGGTCAGCAAAGCCCAGCTGAGGTCATCTCAGATGAGCCCAGTGAGCTCATCTTCACAGCTTATAGTCAGGTTGGTTCCCAAATTCTCTATTTCCAAGAGAAAGATGTGGAGAACAATGCTTTGGCAAGGCTCTACTGGCCCACAGAGGAAGGACCAGGATCACTATTTTCTTTTACAGATGAGGAAACTGAGGCCGAGATGGATGAATTACTCATTCAAATTTACACACGTGGGAAAGAAAGTTGCATGCTGGGCCCTGTAACTCTGCTGATGTAACCCCTGTGTCATCCTCTGTCCCTGACTCAGGAGGAGCTTTTTGGCCGGAGTCTTCTACTGTGGGCGGTAACTCTTGGCCAGTTCACATGGGGACACTGAGGTGGACAGATTGGCCACAGATGAGTGAGAGTCAGAGCTGGGTGAGGGGTTGGGGAATGGCTGCCCCCAGGCTTTGGTCAAGGCCTCAGTTTGAGTAGGAGATTCAGATCATGTGGGACTTCTCTCATTGTCACTGACAGGACCAGGCCTCAGAGATACCTCTGTCAGTGGAGTCAGAATCAGAAGCCAGACAGATCCCTGGTTATCAGCTTCAGACCCTACCTGGGGCCGGAAGCTAAACTTGTGGGTGCTACCACCACAGGACAGCCCAGGTTTTCTGTCAGGAGATGATCCCCCACCCCCACCACCAGGCTTCTCTTCAGAGGCATTAGCTAATGGCCCAAACGGCTTACCCATACAGCAGGAGCAGTGCCACAAGGGCAGGAAGGTTTTCTGGAGAAGTGTAGGCTTTCTTCTGAAACCCGATGAAGATGCCCACCACCAGCCCAGCACTCACGGAATAATTCATCTCGGAAAGAGAAGAGGAGAGCAAGTCACTTAACCTCTCAGACCTGCTGCCAGCTCTGCAAAATGAGGGGTGGGGCCAGGCTCCTCCAGCTCGTAGGGTCTGGGATTCTGATTCGACTTGCTTTTTAAACAGTTCTTGGTTGGCAAACATATGTTAAGCTGTCACTAGTCCTCCTACCCCACCCCATGCCCTACCTCCCTGCCAAGGGAACCTTTAGTTTGTATCTTTTGAAAGGATCAATTACAAAATTCTGCCTGGTCTCTCACTCTTTCTATTTGGTCATAAAGTTTTGTTGATTCTTCTTTCTAAGCATGTCTTCAGAATTCAGAAAAACTTAAAGCCTAGTTCTTGGCTTCACAAAGCTCAAATAAATAATGATACCCTTTTTAAACAATTTAGTCCTACAGCCACTATACTGGGCACAGAAAGGGGACGGCAACAGTGGGGTTAGGGGAGGAGCCATGGTGATCAGGAGCAGGGCAAGAACCAGAGACGGGCTTCCTCAGGGGGCAACCTGCCGTGGGGTGTGGAGGCCTCAACGGGATGAGAAAGATATCCTTACAGGAGGCTGATCTGGTGCAGGGTATCAGAGCCAGAGCAGAACGAGGAGGACCTGCATGCAGCAGAGGCAGCTGGAGCAGGGAGAGGACGGCATCCACATGGGGAGGGGATGGTGGCAGAGTTGGGCACTGTTCAGGTGTATAGGTCCGGTAGATAAATGAGTTGGGAGTGAGAGAAGCCAGCGTCTCACTGTTGGAGAAGGGAGTTACAGATGTGGAAAGAAAAAAAACTAGAATGAGCCCTGTGGAGTTGGTTTTGGAGAGCTCATAGTGTTCACTGTATAGGTAGATAGAGAACTATAGATAGAGGTGTGTGCA
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Task1_train_1149
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With a mutation on Chromosome 1 in gene ABCA4 (ATP binding cassette subfamily A member 4), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; not provided
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ACAGGGGGAGGTCAGGTGGAAGGGACAACTGGGCTTGGCAGCTCATAAAAGTGAGGCATTCAGCATGGAGAACACCCAGTCTCTTCATCAAGATTAACTTGCCCAAGGAATAGTATATGTCAGAGTGTTACAATTTCCATAAGAAAGCGGGAGAAAGACCGTATAGGGATCTGCTGATGTGTCTCCAGAGCACACAGGAAACTCAAGTAAGAGTTTGCCTCTGGAGAAGAGAACTGCATGAGTGGGAAACAGGGGTAGGAAGGAGATTTTTTCATTGTATGCCTTTTTGTTCCTTTTAGATTTTGAAATTACCCAAATGTATTGATGTGTGTGTGTGTAAAACCCAACACCCAAAGTCCCTGAGAAAACCTTTCTGAAAGAGTAAGCAAAGCTTAAAGTTTATTGCAAGAATCAAGTTTTGCTTGCAGAATAAACACAGAAAACCATTTCATTCAGAGCACAGAAATGAAAAAGGTGCTTATAGGAAGGAAAGAAGGAAGAAAGAAGGAAGGATGGAGGGAGGGATGGAGGGAGGATGAAAGGAAAAAGGGAGAGAGGGCAGAAGGAAAGAGGAAGGGAAGGAGGGACGAAGGAAGGAAGGAAGCAATGAAAAAGGAAGGAAGGAGGGACGGGGGAAGGAGGGAGGAGGGAGGAGAAGAAGGAAAGAGGAAGGAAGGATGGGAGGAAGGAAGGAAGGAAAGGAGGCAGGGTCGGGGGTAGGGAGGAAGAAAGTGGCACTCATCCGCATACAGCTGCTACATGTACGATGCTTGCCCCTGGCTCTGCTCGACCAACACATACTCTACTATCCTACTAATCAAACAAAAAAGCCAAGAAAGTTATGCTCACCCGGTTATTCTCAAATAATTCCAAGATGAAGGTAATAGCACTGCTGTTGATGCCGATGAACAGATTAGCACAAGATAAAGCCACATAGGCTGTGCTGGGGACATCAAACAGGAAGGATGCTGGGTACATCATGGGAATGACCGCCCATCTGTGTGAAATGAGACAACTCAGAGTGATGGAGTTCCACATTCCATTCCACCTACAATACGTCTGGATATAATGCACTCCCCTTACACCTGAGGTGATGTGTGTGAACTGGCCAGAGTCCCAGGGGACCAGAGAGATACTCCATTTGTTGGTCTCTGTGCCTCAACTTTAAATGGAGATAATGATGCCTGCCTTGACCACTTCATGGGGTTTTGTGAGGAGCAAATGGGCTGCTAGCTGTGTATATACTCTGTAAACTACAAAGCCCTGTACAATTCATAGGAGGGTTCTCCAGCCTGCAACACCTCCCACTCTAGCCTGGGTCAGCAAAGCCCAGCTGAGGTCATCTCAGATGAGCCCAGTGAGCTCATCTTCACAGCTTATAGTCAGGTTGGTTCCCAAATTCTCTATTTCCAAGAGAAAGATGTGGAGAACAATGCTTTGGCAAGGCTCTACTGGCCCACAGAGGAAGGACCAGGATCACTATTTTCTTTTACAGATGAGGAAACTGAGGCCGAGATGGATGAATTACTCATTCAAATTTACACACGTGGGAAAGAAAGTTGCATGCTGGGCCCTGTAACTCTGCTGATGTAACCCCTGTGTCATCCTCTGTCCCTGACTCAGGAGGAGCTTTTTGGCCGGAGTCTTCTACTGTGGGCGGTAACTCTTGGCCAGTTCACATGGGGACACTGAGGTGGACAGATTGGCCACAGATGAGTGAGAGTCAGAGCTGGGTGAGGGGTTGGGGAATGGCTGCCCCCAGGCTTTGGTCAAGGCCTCAGTTTGAGTAGGAGATTCAGATCATGTGGGACTTCTCTCATTGTCACTGACAGGACCAGGCCTCAGAGATACCTCTGTCAGTGGAGTCAGAATCAGAAGCCAGACAGATCCCTGGTTATCAGCTTCAGACCCTACCTGGGGCCGGAAGCTAAACTTGTGGGTGCTACCACCACAGGACAGCCCAGGTTTTCTGTCAGGAGATGATCCCCCACCCCCACCACCAGGCTTCTCTTCAGAGGCATTAGCTAATGGCCCAAACGGCTTACCCATACAGCAGGAGCAGTGCCACAAGGGCAGGAAGGTTTTCTGGAGAAGTGTAGGCTTTCTTCTGAAACCCGATGAAGATGCCCACCACCAGCCCAGCACTCACGGAATAATTCATCTCGGAAAGAGAAGAGGAGAGCAAGTCACTTAACCTCTCAGACCTGCTGCCAGCTCTGCAAAATGAGGGGTGGGGCCAGGCTCCTCCAGCTCGTAGGGTCTGGGATTCTGATTCGACTTGCTTTTTAAACAGTTCTTGGTTGGCAAACATATGTTAAGCTGTCACTAGTCCTCCTACCCCACCCCATGCCCTACCTCCCTGCCAAGGGAACCTTTAGTTTGTATCTTTTGAAAGGATCAATTACAAAATTCTGCCTGGTCTCTCACTCTTTCTATTTGGTCATAAAGTTTTGTTGATTCTTCTTTCTAAGCATGTCTTCAGAATTCAGAAAAACTTAAAGCCTAGTTCTTGGCTTCACAAAGCTCAAATAAATAATGATACCCTTTTTAAACAATTTAGTCCTACAGCCACTATACTGGGCACAGAAAGGGGACGGCAACAGTGGGGTTAGGGGAGGAGCCATGGTGATCAGGAGCAGGGCAAGAACCAGAGACGGGCTTCCTCAGGGGGCAACCTGCCGTGGGGTGTGGAGGCCTCAACGGGATGAGAAAGATATCCTTACAGGAGGCTGATCTGGTGCAGGGTATCAGAGCCAGAGCAGAACGAGGAGGACCTGCATGCAGCAGAGGCAGCTGGAGCAGGGAGAGGACGGCATCCACATGGGGAGGGGATGGTGGCAGAGTTGGGCACTGTTCAGGTGTATAGGTCCGGTAGATAAATGAGTTGGGAGTGAGAGAAGCCAGCGTCTCACTGTTGGAGAAGGGAGTTACAGATGTGGAAAGAAAAAAAACTAGAATGAGCCCTGTGGAGTTGGTTTTGGAGAGCTCATAGTGTTCACTGTATAGGTAGATAGAGAACTATAGATAGAGGTGTGTGCATACCTGTGTGTGTACATCCATATCTTCCCTAGTTCTATCACTGAGAAGGCCTGGGACCAATGGTGCTCCAGAGGCAATGAACATATCTAGCACTCAGACCTTGGCTTCTGAGGGCCACTTCCCACTGGCAGGAACCAGGGCTTCTTGGGGAGAGGGTAGGAATGGGGATAATGGAAGGATGAGCCTGGAATATCTTGCTGTGCCATTGAGCATGGAGGAGGTCCAGGGGCATGAGGACCCAAGTCAAGACGATACAGAAGCCAGCTTCAACGGCCCCCCACTGACCACAGTGGGGATAATGTGAATATCAAAATAAATAATGATAGTCTTGGATCATAGTCCATTGATTAACACATGAACCATGACTGCATACAGAGATAAATAAATGGATGAATAAATGGAAAATTGTATAATGAATAGGATATTTATATATCTTTGAAGTGCCTCTACCTGAAATTTGTATTTATTATAAAGGGGAAAAGAGTAATTTTACAGTGAAGAAGCTCAGCAGACACCTTCTTAAGTGACCGAATTGAACATCATCAGTAACAGAGCAAATTGAAATCAGAAGCCACCTGATAGGATGCAGTGAGAACACAGCATCTGTTTGCTGATACTGCTGCCAAGATGCACACCCTCAACCTGGGCAAGAGGAAACCTCAGACAAGCTCAGACCAAGGGACATTCTGCAAAATAACCAGCCTGCAGTCCTCAAAGTGTCAAGACCATGAGTGTTAACAAAAGACTGTGGAACTCTTCCAGGCTGAACGAGACTAAAGAAACAGCACAATCAAATGTCATGCATGATTCTGAGCTAGATCCTTTTTTCTGAAAGACATCACTGGGGCAATGGGCGAAAGAGGAGTGGGGTGTGAGGATTAGGTGGTGATGACACATCAGTGCTGGTTTCCTCATGTTGACAGTTTGTGTTGTGGTTGTATGGGGTGTATCCTCGTTTGTAGGAAGTATACATCGGACGTGCTGAGGGGTGTGAGAGAGAGAGACAGGAAGAGAGAAATAAATGAGAAGGGGCATCTTGCTGAGAAGTTACTTTCAA
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ACAGGGGGAGGTCAGGTGGAAGGGACAACTGGGCTTGGCAGCTCATAAAAGTGAGGCATTCAGCATGGAGAACACCCAGTCTCTTCATCAAGATTAACTTGCCCAAGGAATAGTATATGTCAGAGTGTTACAATTTCCATAAGAAAGCGGGAGAAAGACCGTATAGGGATCTGCTGATGTGTCTCCAGAGCACACAGGAAACTCAAGTAAGAGTTTGCCTCTGGAGAAGAGAACTGCATGAGTGGGAAACAGGGGTAGGAAGGAGATTTTTTCATTGTATGCCTTTTTGTTCCTTTTAGATTTTGAAATTACCCAAATGTATTGATGTGTGTGTGTGTAAAACCCAACACCCAAAGTCCCTGAGAAAACCTTTCTGAAAGAGTAAGCAAAGCTTAAAGTTTATTGCAAGAATCAAGTTTTGCTTGCAGAATAAACACAGAAAACCATTTCATTCAGAGCACAGAAATGAAAAAGGTGCTTATAGGAAGGAAAGAAGGAAGAAAGAAGGAAGGATGGAGGGAGGGATGGAGGGAGGATGAAAGGAAAAAGGGAGAGAGGGCAGAAGGAAAGAGGAAGGGAAGGAGGGACGAAGGAAGGAAGGAAGCAATGAAAAAGGAAGGAAGGAGGGACGGGGGAAGGAGGGAGGAGGGAGGAGAAGAAGGAAAGAGGAAGGAAGGATGGGAGGAAGGAAGGAAGGAAAGGAGGCAGGGTCGGGGGTAGGGAGGAAGAAAGTGGCACTCATCCGCATACAGCTGCTACATGTACGATGCTTGCCCCTGGCTCTGCTCGACCAACACATACTCTACTATCCTACTAATCAAACAAAAAAGCCAAGAAAGTTATGCTCACCCGGTTATTCTCAAATAATTCCAAGATGAAGGTAATAGCACTGCTGTTGATGCCGATGAACAGATTAGCACAAGATAAAGCCACATAGGCTGTGCTGGGGACATCAAACAGGAAGGATGCTGGGTACATCATGGGAATGACCGCCCATCTGTGTGAAATGAGACAACTCAGAGTGATGGAGTTCCACATTCCATTCCACCTACAATACGTCTGGATATAATGCACTCCCCTTACACCTGAGGTGATGTGTGTGAACTGGCCAGAGTCCCAGGGGACCAGAGAGATACTCCATTTGTTGGTCTCTGTGCCTCAACTTTAAATGGAGATAATGATGCCTGCCTTGACCACTTCATGGGGTTTTGTGAGGAGCAAATGGGCTGCTAGCTGTGTATATACTCTGTAAACTACAAAGCCCTGTACAATTCATAGGAGGGTTCTCCAGCCTGCAACACCTCCCACTCTAGCCTGGGTCAGCAAAGCCCAGCTGAGGTCATCTCAGATGAGCCCAGTGAGCTCATCTTCACAGCTTATAGTCAGGTTGGTTCCCAAATTCTCTATTTCCAAGAGAAAGATGTGGAGAACAATGCTTTGGCAAGGCTCTACTGGCCCACAGAGGAAGGACCAGGATCACTATTTTCTTTTACAGATGAGGAAACTGAGGCCGAGATGGATGAATTACTCATTCAAATTTACACACGTGGGAAAGAAAGTTGCATGCTGGGCCCTGTAACTCTGCTGATGTAACCCCTGTGTCATCCTCTGTCCCTGACTCAGGAGGAGCTTTTTGGCCGGAGTCTTCTACTGTGGGCGGTAACTCTTGGCCAGTTCACATGGGGACACTGAGGTGGACAGATTGGCCACAGATGAGTGAGAGTCAGAGCTGGGTGAGGGGTTGGGGAATGGCTGCCCCCAGGCTTTGGTCAAGGCCTCAGTTTGAGTAGGAGATTCAGATCATGTGGGACTTCTCTCATTGTCACTGACAGGACCAGGCCTCAGAGATACCTCTGTCAGTGGAGTCAGAATCAGAAGCCAGACAGATCCCTGGTTATCAGCTTCAGACCCTACCTGGGGCCGGAAGCTAAACTTGTGGGTGCTACCACCACAGGACAGCCCAGGTTTTCTGTCAGGAGATGATCCCCCACCCCCACCACCAGGCTTCTCTTCAGAGGCATTAGCTAATGGCCCAAACGGCTTACCCACACAGCAGGAGCAGTGCCACAAGGGCAGGAAGGTTTTCTGGAGAAGTGTAGGCTTTCTTCTGAAACCCGATGAAGATGCCCACCACCAGCCCAGCACTCACGGAATAATTCATCTCGGAAAGAGAAGAGGAGAGCAAGTCACTTAACCTCTCAGACCTGCTGCCAGCTCTGCAAAATGAGGGGTGGGGCCAGGCTCCTCCAGCTCGTAGGGTCTGGGATTCTGATTCGACTTGCTTTTTAAACAGTTCTTGGTTGGCAAACATATGTTAAGCTGTCACTAGTCCTCCTACCCCACCCCATGCCCTACCTCCCTGCCAAGGGAACCTTTAGTTTGTATCTTTTGAAAGGATCAATTACAAAATTCTGCCTGGTCTCTCACTCTTTCTATTTGGTCATAAAGTTTTGTTGATTCTTCTTTCTAAGCATGTCTTCAGAATTCAGAAAAACTTAAAGCCTAGTTCTTGGCTTCACAAAGCTCAAATAAATAATGATACCCTTTTTAAACAATTTAGTCCTACAGCCACTATACTGGGCACAGAAAGGGGACGGCAACAGTGGGGTTAGGGGAGGAGCCATGGTGATCAGGAGCAGGGCAAGAACCAGAGACGGGCTTCCTCAGGGGGCAACCTGCCGTGGGGTGTGGAGGCCTCAACGGGATGAGAAAGATATCCTTACAGGAGGCTGATCTGGTGCAGGGTATCAGAGCCAGAGCAGAACGAGGAGGACCTGCATGCAGCAGAGGCAGCTGGAGCAGGGAGAGGACGGCATCCACATGGGGAGGGGATGGTGGCAGAGTTGGGCACTGTTCAGGTGTATAGGTCCGGTAGATAAATGAGTTGGGAGTGAGAGAAGCCAGCGTCTCACTGTTGGAGAAGGGAGTTACAGATGTGGAAAGAAAAAAAACTAGAATGAGCCCTGTGGAGTTGGTTTTGGAGAGCTCATAGTGTTCACTGTATAGGTAGATAGAGAACTATAGATAGAGGTGTGTGCATACCTGTGTGTGTACATCCATATCTTCCCTAGTTCTATCACTGAGAAGGCCTGGGACCAATGGTGCTCCAGAGGCAATGAACATATCTAGCACTCAGACCTTGGCTTCTGAGGGCCACTTCCCACTGGCAGGAACCAGGGCTTCTTGGGGAGAGGGTAGGAATGGGGATAATGGAAGGATGAGCCTGGAATATCTTGCTGTGCCATTGAGCATGGAGGAGGTCCAGGGGCATGAGGACCCAAGTCAAGACGATACAGAAGCCAGCTTCAACGGCCCCCCACTGACCACAGTGGGGATAATGTGAATATCAAAATAAATAATGATAGTCTTGGATCATAGTCCATTGATTAACACATGAACCATGACTGCATACAGAGATAAATAAATGGATGAATAAATGGAAAATTGTATAATGAATAGGATATTTATATATCTTTGAAGTGCCTCTACCTGAAATTTGTATTTATTATAAAGGGGAAAAGAGTAATTTTACAGTGAAGAAGCTCAGCAGACACCTTCTTAAGTGACCGAATTGAACATCATCAGTAACAGAGCAAATTGAAATCAGAAGCCACCTGATAGGATGCAGTGAGAACACAGCATCTGTTTGCTGATACTGCTGCCAAGATGCACACCCTCAACCTGGGCAAGAGGAAACCTCAGACAAGCTCAGACCAAGGGACATTCTGCAAAATAACCAGCCTGCAGTCCTCAAAGTGTCAAGACCATGAGTGTTAACAAAAGACTGTGGAACTCTTCCAGGCTGAACGAGACTAAAGAAACAGCACAATCAAATGTCATGCATGATTCTGAGCTAGATCCTTTTTTCTGAAAGACATCACTGGGGCAATGGGCGAAAGAGGAGTGGGGTGTGAGGATTAGGTGGTGATGACACATCAGTGCTGGTTTCCTCATGTTGACAGTTTGTGTTGTGGTTGTATGGGGTGTATCCTCGTTTGTAGGAAGTATACATCGGACGTGCTGAGGGGTGTGAGAGAGAGAGACAGGAAGAGAGAAATAAATGAGAAGGGGCATCTTGCTGAGAAGTTACTTTCAA
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Task1_train_1150
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A mutation on Chromosome 1 affecting ABCA4 (ATP binding cassette subfamily A member 4) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Cone-rod dystrophy 3
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ACAACTGGGCTTGGCAGCTCATAAAAGTGAGGCATTCAGCATGGAGAACACCCAGTCTCTTCATCAAGATTAACTTGCCCAAGGAATAGTATATGTCAGAGTGTTACAATTTCCATAAGAAAGCGGGAGAAAGACCGTATAGGGATCTGCTGATGTGTCTCCAGAGCACACAGGAAACTCAAGTAAGAGTTTGCCTCTGGAGAAGAGAACTGCATGAGTGGGAAACAGGGGTAGGAAGGAGATTTTTTCATTGTATGCCTTTTTGTTCCTTTTAGATTTTGAAATTACCCAAATGTATTGATGTGTGTGTGTGTAAAACCCAACACCCAAAGTCCCTGAGAAAACCTTTCTGAAAGAGTAAGCAAAGCTTAAAGTTTATTGCAAGAATCAAGTTTTGCTTGCAGAATAAACACAGAAAACCATTTCATTCAGAGCACAGAAATGAAAAAGGTGCTTATAGGAAGGAAAGAAGGAAGAAAGAAGGAAGGATGGAGGGAGGGATGGAGGGAGGATGAAAGGAAAAAGGGAGAGAGGGCAGAAGGAAAGAGGAAGGGAAGGAGGGACGAAGGAAGGAAGGAAGCAATGAAAAAGGAAGGAAGGAGGGACGGGGGAAGGAGGGAGGAGGGAGGAGAAGAAGGAAAGAGGAAGGAAGGATGGGAGGAAGGAAGGAAGGAAAGGAGGCAGGGTCGGGGGTAGGGAGGAAGAAAGTGGCACTCATCCGCATACAGCTGCTACATGTACGATGCTTGCCCCTGGCTCTGCTCGACCAACACATACTCTACTATCCTACTAATCAAACAAAAAAGCCAAGAAAGTTATGCTCACCCGGTTATTCTCAAATAATTCCAAGATGAAGGTAATAGCACTGCTGTTGATGCCGATGAACAGATTAGCACAAGATAAAGCCACATAGGCTGTGCTGGGGACATCAAACAGGAAGGATGCTGGGTACATCATGGGAATGACCGCCCATCTGTGTGAAATGAGACAACTCAGAGTGATGGAGTTCCACATTCCATTCCACCTACAATACGTCTGGATATAATGCACTCCCCTTACACCTGAGGTGATGTGTGTGAACTGGCCAGAGTCCCAGGGGACCAGAGAGATACTCCATTTGTTGGTCTCTGTGCCTCAACTTTAAATGGAGATAATGATGCCTGCCTTGACCACTTCATGGGGTTTTGTGAGGAGCAAATGGGCTGCTAGCTGTGTATATACTCTGTAAACTACAAAGCCCTGTACAATTCATAGGAGGGTTCTCCAGCCTGCAACACCTCCCACTCTAGCCTGGGTCAGCAAAGCCCAGCTGAGGTCATCTCAGATGAGCCCAGTGAGCTCATCTTCACAGCTTATAGTCAGGTTGGTTCCCAAATTCTCTATTTCCAAGAGAAAGATGTGGAGAACAATGCTTTGGCAAGGCTCTACTGGCCCACAGAGGAAGGACCAGGATCACTATTTTCTTTTACAGATGAGGAAACTGAGGCCGAGATGGATGAATTACTCATTCAAATTTACACACGTGGGAAAGAAAGTTGCATGCTGGGCCCTGTAACTCTGCTGATGTAACCCCTGTGTCATCCTCTGTCCCTGACTCAGGAGGAGCTTTTTGGCCGGAGTCTTCTACTGTGGGCGGTAACTCTTGGCCAGTTCACATGGGGACACTGAGGTGGACAGATTGGCCACAGATGAGTGAGAGTCAGAGCTGGGTGAGGGGTTGGGGAATGGCTGCCCCCAGGCTTTGGTCAAGGCCTCAGTTTGAGTAGGAGATTCAGATCATGTGGGACTTCTCTCATTGTCACTGACAGGACCAGGCCTCAGAGATACCTCTGTCAGTGGAGTCAGAATCAGAAGCCAGACAGATCCCTGGTTATCAGCTTCAGACCCTACCTGGGGCCGGAAGCTAAACTTGTGGGTGCTACCACCACAGGACAGCCCAGGTTTTCTGTCAGGAGATGATCCCCCACCCCCACCACCAGGCTTCTCTTCAGAGGCATTAGCTAATGGCCCAAACGGCTTACCCATACAGCAGGAGCAGTGCCACAAGGGCAGGAAGGTTTTCTGGAGAAGTGTAGGCTTTCTTCTGAAACCCGATGAAGATGCCCACCACCAGCCCAGCACTCACGGAATAATTCATCTCGGAAAGAGAAGAGGAGAGCAAGTCACTTAACCTCTCAGACCTGCTGCCAGCTCTGCAAAATGAGGGGTGGGGCCAGGCTCCTCCAGCTCGTAGGGTCTGGGATTCTGATTCGACTTGCTTTTTAAACAGTTCTTGGTTGGCAAACATATGTTAAGCTGTCACTAGTCCTCCTACCCCACCCCATGCCCTACCTCCCTGCCAAGGGAACCTTTAGTTTGTATCTTTTGAAAGGATCAATTACAAAATTCTGCCTGGTCTCTCACTCTTTCTATTTGGTCATAAAGTTTTGTTGATTCTTCTTTCTAAGCATGTCTTCAGAATTCAGAAAAACTTAAAGCCTAGTTCTTGGCTTCACAAAGCTCAAATAAATAATGATACCCTTTTTAAACAATTTAGTCCTACAGCCACTATACTGGGCACAGAAAGGGGACGGCAACAGTGGGGTTAGGGGAGGAGCCATGGTGATCAGGAGCAGGGCAAGAACCAGAGACGGGCTTCCTCAGGGGGCAACCTGCCGTGGGGTGTGGAGGCCTCAACGGGATGAGAAAGATATCCTTACAGGAGGCTGATCTGGTGCAGGGTATCAGAGCCAGAGCAGAACGAGGAGGACCTGCATGCAGCAGAGGCAGCTGGAGCAGGGAGAGGACGGCATCCACATGGGGAGGGGATGGTGGCAGAGTTGGGCACTGTTCAGGTGTATAGGTCCGGTAGATAAATGAGTTGGGAGTGAGAGAAGCCAGCGTCTCACTGTTGGAGAAGGGAGTTACAGATGTGGAAAGAAAAAAAACTAGAATGAGCCCTGTGGAGTTGGTTTTGGAGAGCTCATAGTGTTCACTGTATAGGTAGATAGAGAACTATAGATAGAGGTGTGTGCATACCTGTGTGTGTACATCCATATCTTCCCTAGTTCTATCACTGAGAAGGCCTGGGACCAATGGTGCTCCAGAGGCAATGAACATATCTAGCACTCAGACCTTGGCTTCTGAGGGCCACTTCCCACTGGCAGGAACCAGGGCTTCTTGGGGAGAGGGTAGGAATGGGGATAATGGAAGGATGAGCCTGGAATATCTTGCTGTGCCATTGAGCATGGAGGAGGTCCAGGGGCATGAGGACCCAAGTCAAGACGATACAGAAGCCAGCTTCAACGGCCCCCCACTGACCACAGTGGGGATAATGTGAATATCAAAATAAATAATGATAGTCTTGGATCATAGTCCATTGATTAACACATGAACCATGACTGCATACAGAGATAAATAAATGGATGAATAAATGGAAAATTGTATAATGAATAGGATATTTATATATCTTTGAAGTGCCTCTACCTGAAATTTGTATTTATTATAAAGGGGAAAAGAGTAATTTTACAGTGAAGAAGCTCAGCAGACACCTTCTTAAGTGACCGAATTGAACATCATCAGTAACAGAGCAAATTGAAATCAGAAGCCACCTGATAGGATGCAGTGAGAACACAGCATCTGTTTGCTGATACTGCTGCCAAGATGCACACCCTCAACCTGGGCAAGAGGAAACCTCAGACAAGCTCAGACCAAGGGACATTCTGCAAAATAACCAGCCTGCAGTCCTCAAAGTGTCAAGACCATGAGTGTTAACAAAAGACTGTGGAACTCTTCCAGGCTGAACGAGACTAAAGAAACAGCACAATCAAATGTCATGCATGATTCTGAGCTAGATCCTTTTTTCTGAAAGACATCACTGGGGCAATGGGCGAAAGAGGAGTGGGGTGTGAGGATTAGGTGGTGATGACACATCAGTGCTGGTTTCCTCATGTTGACAGTTTGTGTTGTGGTTGTATGGGGTGTATCCTCGTTTGTAGGAAGTATACATCGGACGTGCTGAGGGGTGTGAGAGAGAGAGACAGGAAGAGAGAAATAAATGAGAAGGGGCATCTTGCTGAGAAGTTACTTTCAAATGACTAAGAAAAAAAGGTTTCAA
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ACAACTGGGCTTGGCAGCTCATAAAAGTGAGGCATTCAGCATGGAGAACACCCAGTCTCTTCATCAAGATTAACTTGCCCAAGGAATAGTATATGTCAGAGTGTTACAATTTCCATAAGAAAGCGGGAGAAAGACCGTATAGGGATCTGCTGATGTGTCTCCAGAGCACACAGGAAACTCAAGTAAGAGTTTGCCTCTGGAGAAGAGAACTGCATGAGTGGGAAACAGGGGTAGGAAGGAGATTTTTTCATTGTATGCCTTTTTGTTCCTTTTAGATTTTGAAATTACCCAAATGTATTGATGTGTGTGTGTGTAAAACCCAACACCCAAAGTCCCTGAGAAAACCTTTCTGAAAGAGTAAGCAAAGCTTAAAGTTTATTGCAAGAATCAAGTTTTGCTTGCAGAATAAACACAGAAAACCATTTCATTCAGAGCACAGAAATGAAAAAGGTGCTTATAGGAAGGAAAGAAGGAAGAAAGAAGGAAGGATGGAGGGAGGGATGGAGGGAGGATGAAAGGAAAAAGGGAGAGAGGGCAGAAGGAAAGAGGAAGGGAAGGAGGGACGAAGGAAGGAAGGAAGCAATGAAAAAGGAAGGAAGGAGGGACGGGGGAAGGAGGGAGGAGGGAGGAGAAGAAGGAAAGAGGAAGGAAGGATGGGAGGAAGGAAGGAAGGAAAGGAGGCAGGGTCGGGGGTAGGGAGGAAGAAAGTGGCACTCATCCGCATACAGCTGCTACATGTACGATGCTTGCCCCTGGCTCTGCTCGACCAACACATACTCTACTATCCTACTAATCAAACAAAAAAGCCAAGAAAGTTATGCTCACCCGGTTATTCTCAAATAATTCCAAGATGAAGGTAATAGCACTGCTGTTGATGCCGATGAACAGATTAGCACAAGATAAAGCCACATAGGCTGTGCTGGGGACATCAAACAGGAAGGATGCTGGGTACATCATGGGAATGACCGCCCATCTGTGTGAAATGAGACAACTCAGAGTGATGGAGTTCCACATTCCATTCCACCTACAATACGTCTGGATATAATGCACTCCCCTTACACCTGAGGTGATGTGTGTGAACTGGCCAGAGTCCCAGGGGACCAGAGAGATACTCCATTTGTTGGTCTCTGTGCCTCAACTTTAAATGGAGATAATGATGCCTGCCTTGACCACTTCATGGGGTTTTGTGAGGAGCAAATGGGCTGCTAGCTGTGTATATACTCTGTAAACTACAAAGCCCTGTACAATTCATAGGAGGGTTCTCCAGCCTGCAACACCTCCCACTCTAGCCTGGGTCAGCAAAGCCCAGCTGAGGTCATCTCAGATGAGCCCAGTGAGCTCATCTTCACAGCTTATAGTCAGGTTGGTTCCCAAATTCTCTATTTCCAAGAGAAAGATGTGGAGAACAATGCTTTGGCAAGGCTCTACTGGCCCACAGAGGAAGGACCAGGATCACTATTTTCTTTTACAGATGAGGAAACTGAGGCCGAGATGGATGAATTACTCATTCAAATTTACACACGTGGGAAAGAAAGTTGCATGCTGGGCCCTGTAACTCTGCTGATGTAACCCCTGTGTCATCCTCTGTCCCTGACTCAGGAGGAGCTTTTTGGCCGGAGTCTTCTACTGTGGGCGGTAACTCTTGGCCAGTTCACATGGGGACACTGAGGTGGACAGATTGGCCACAGATGAGTGAGAGTCAGAGCTGGGTGAGGGGTTGGGGAATGGCTGCCCCCAGGCTTTGGTCAAGGCCTCAGTTTGAGTAGGAGATTCAGATCATGTGGGACTTCTCTCATTGTCACTGACAGGACCAGGCCTCAGAGATACCTCTGTCAGTGGAGTCAGAATCAGAAGCCAGACAGATCCCTGGTTATCAGCTTCAGACCCTACCTGGGGCCGGAAGCTAAACTTGTGGGTGCTACCACCACAGGACAGCCCAGGTTTTCTGTCAGGAGATGATCCCCCACCCCCACCACCAGGCTTCTCTTCAGAGGCATTAGCTAATGGCCCAAACGGCTTACCCATACAGCAGGAGCAGTGCCACAAGGTCAGGAAGGTTTTCTGGAGAAGTGTAGGCTTTCTTCTGAAACCCGATGAAGATGCCCACCACCAGCCCAGCACTCACGGAATAATTCATCTCGGAAAGAGAAGAGGAGAGCAAGTCACTTAACCTCTCAGACCTGCTGCCAGCTCTGCAAAATGAGGGGTGGGGCCAGGCTCCTCCAGCTCGTAGGGTCTGGGATTCTGATTCGACTTGCTTTTTAAACAGTTCTTGGTTGGCAAACATATGTTAAGCTGTCACTAGTCCTCCTACCCCACCCCATGCCCTACCTCCCTGCCAAGGGAACCTTTAGTTTGTATCTTTTGAAAGGATCAATTACAAAATTCTGCCTGGTCTCTCACTCTTTCTATTTGGTCATAAAGTTTTGTTGATTCTTCTTTCTAAGCATGTCTTCAGAATTCAGAAAAACTTAAAGCCTAGTTCTTGGCTTCACAAAGCTCAAATAAATAATGATACCCTTTTTAAACAATTTAGTCCTACAGCCACTATACTGGGCACAGAAAGGGGACGGCAACAGTGGGGTTAGGGGAGGAGCCATGGTGATCAGGAGCAGGGCAAGAACCAGAGACGGGCTTCCTCAGGGGGCAACCTGCCGTGGGGTGTGGAGGCCTCAACGGGATGAGAAAGATATCCTTACAGGAGGCTGATCTGGTGCAGGGTATCAGAGCCAGAGCAGAACGAGGAGGACCTGCATGCAGCAGAGGCAGCTGGAGCAGGGAGAGGACGGCATCCACATGGGGAGGGGATGGTGGCAGAGTTGGGCACTGTTCAGGTGTATAGGTCCGGTAGATAAATGAGTTGGGAGTGAGAGAAGCCAGCGTCTCACTGTTGGAGAAGGGAGTTACAGATGTGGAAAGAAAAAAAACTAGAATGAGCCCTGTGGAGTTGGTTTTGGAGAGCTCATAGTGTTCACTGTATAGGTAGATAGAGAACTATAGATAGAGGTGTGTGCATACCTGTGTGTGTACATCCATATCTTCCCTAGTTCTATCACTGAGAAGGCCTGGGACCAATGGTGCTCCAGAGGCAATGAACATATCTAGCACTCAGACCTTGGCTTCTGAGGGCCACTTCCCACTGGCAGGAACCAGGGCTTCTTGGGGAGAGGGTAGGAATGGGGATAATGGAAGGATGAGCCTGGAATATCTTGCTGTGCCATTGAGCATGGAGGAGGTCCAGGGGCATGAGGACCCAAGTCAAGACGATACAGAAGCCAGCTTCAACGGCCCCCCACTGACCACAGTGGGGATAATGTGAATATCAAAATAAATAATGATAGTCTTGGATCATAGTCCATTGATTAACACATGAACCATGACTGCATACAGAGATAAATAAATGGATGAATAAATGGAAAATTGTATAATGAATAGGATATTTATATATCTTTGAAGTGCCTCTACCTGAAATTTGTATTTATTATAAAGGGGAAAAGAGTAATTTTACAGTGAAGAAGCTCAGCAGACACCTTCTTAAGTGACCGAATTGAACATCATCAGTAACAGAGCAAATTGAAATCAGAAGCCACCTGATAGGATGCAGTGAGAACACAGCATCTGTTTGCTGATACTGCTGCCAAGATGCACACCCTCAACCTGGGCAAGAGGAAACCTCAGACAAGCTCAGACCAAGGGACATTCTGCAAAATAACCAGCCTGCAGTCCTCAAAGTGTCAAGACCATGAGTGTTAACAAAAGACTGTGGAACTCTTCCAGGCTGAACGAGACTAAAGAAACAGCACAATCAAATGTCATGCATGATTCTGAGCTAGATCCTTTTTTCTGAAAGACATCACTGGGGCAATGGGCGAAAGAGGAGTGGGGTGTGAGGATTAGGTGGTGATGACACATCAGTGCTGGTTTCCTCATGTTGACAGTTTGTGTTGTGGTTGTATGGGGTGTATCCTCGTTTGTAGGAAGTATACATCGGACGTGCTGAGGGGTGTGAGAGAGAGAGACAGGAAGAGAGAAATAAATGAGAAGGGGCATCTTGCTGAGAAGTTACTTTCAAATGACTAAGAAAAAAAGGTTTCAA
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Task1_train_1151
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A genetic alteration is present in ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Severe early-childhood-onset retinal dystrophy
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ACAACTGGGCTTGGCAGCTCATAAAAGTGAGGCATTCAGCATGGAGAACACCCAGTCTCTTCATCAAGATTAACTTGCCCAAGGAATAGTATATGTCAGAGTGTTACAATTTCCATAAGAAAGCGGGAGAAAGACCGTATAGGGATCTGCTGATGTGTCTCCAGAGCACACAGGAAACTCAAGTAAGAGTTTGCCTCTGGAGAAGAGAACTGCATGAGTGGGAAACAGGGGTAGGAAGGAGATTTTTTCATTGTATGCCTTTTTGTTCCTTTTAGATTTTGAAATTACCCAAATGTATTGATGTGTGTGTGTGTAAAACCCAACACCCAAAGTCCCTGAGAAAACCTTTCTGAAAGAGTAAGCAAAGCTTAAAGTTTATTGCAAGAATCAAGTTTTGCTTGCAGAATAAACACAGAAAACCATTTCATTCAGAGCACAGAAATGAAAAAGGTGCTTATAGGAAGGAAAGAAGGAAGAAAGAAGGAAGGATGGAGGGAGGGATGGAGGGAGGATGAAAGGAAAAAGGGAGAGAGGGCAGAAGGAAAGAGGAAGGGAAGGAGGGACGAAGGAAGGAAGGAAGCAATGAAAAAGGAAGGAAGGAGGGACGGGGGAAGGAGGGAGGAGGGAGGAGAAGAAGGAAAGAGGAAGGAAGGATGGGAGGAAGGAAGGAAGGAAAGGAGGCAGGGTCGGGGGTAGGGAGGAAGAAAGTGGCACTCATCCGCATACAGCTGCTACATGTACGATGCTTGCCCCTGGCTCTGCTCGACCAACACATACTCTACTATCCTACTAATCAAACAAAAAAGCCAAGAAAGTTATGCTCACCCGGTTATTCTCAAATAATTCCAAGATGAAGGTAATAGCACTGCTGTTGATGCCGATGAACAGATTAGCACAAGATAAAGCCACATAGGCTGTGCTGGGGACATCAAACAGGAAGGATGCTGGGTACATCATGGGAATGACCGCCCATCTGTGTGAAATGAGACAACTCAGAGTGATGGAGTTCCACATTCCATTCCACCTACAATACGTCTGGATATAATGCACTCCCCTTACACCTGAGGTGATGTGTGTGAACTGGCCAGAGTCCCAGGGGACCAGAGAGATACTCCATTTGTTGGTCTCTGTGCCTCAACTTTAAATGGAGATAATGATGCCTGCCTTGACCACTTCATGGGGTTTTGTGAGGAGCAAATGGGCTGCTAGCTGTGTATATACTCTGTAAACTACAAAGCCCTGTACAATTCATAGGAGGGTTCTCCAGCCTGCAACACCTCCCACTCTAGCCTGGGTCAGCAAAGCCCAGCTGAGGTCATCTCAGATGAGCCCAGTGAGCTCATCTTCACAGCTTATAGTCAGGTTGGTTCCCAAATTCTCTATTTCCAAGAGAAAGATGTGGAGAACAATGCTTTGGCAAGGCTCTACTGGCCCACAGAGGAAGGACCAGGATCACTATTTTCTTTTACAGATGAGGAAACTGAGGCCGAGATGGATGAATTACTCATTCAAATTTACACACGTGGGAAAGAAAGTTGCATGCTGGGCCCTGTAACTCTGCTGATGTAACCCCTGTGTCATCCTCTGTCCCTGACTCAGGAGGAGCTTTTTGGCCGGAGTCTTCTACTGTGGGCGGTAACTCTTGGCCAGTTCACATGGGGACACTGAGGTGGACAGATTGGCCACAGATGAGTGAGAGTCAGAGCTGGGTGAGGGGTTGGGGAATGGCTGCCCCCAGGCTTTGGTCAAGGCCTCAGTTTGAGTAGGAGATTCAGATCATGTGGGACTTCTCTCATTGTCACTGACAGGACCAGGCCTCAGAGATACCTCTGTCAGTGGAGTCAGAATCAGAAGCCAGACAGATCCCTGGTTATCAGCTTCAGACCCTACCTGGGGCCGGAAGCTAAACTTGTGGGTGCTACCACCACAGGACAGCCCAGGTTTTCTGTCAGGAGATGATCCCCCACCCCCACCACCAGGCTTCTCTTCAGAGGCATTAGCTAATGGCCCAAACGGCTTACCCATACAGCAGGAGCAGTGCCACAAGGGCAGGAAGGTTTTCTGGAGAAGTGTAGGCTTTCTTCTGAAACCCGATGAAGATGCCCACCACCAGCCCAGCACTCACGGAATAATTCATCTCGGAAAGAGAAGAGGAGAGCAAGTCACTTAACCTCTCAGACCTGCTGCCAGCTCTGCAAAATGAGGGGTGGGGCCAGGCTCCTCCAGCTCGTAGGGTCTGGGATTCTGATTCGACTTGCTTTTTAAACAGTTCTTGGTTGGCAAACATATGTTAAGCTGTCACTAGTCCTCCTACCCCACCCCATGCCCTACCTCCCTGCCAAGGGAACCTTTAGTTTGTATCTTTTGAAAGGATCAATTACAAAATTCTGCCTGGTCTCTCACTCTTTCTATTTGGTCATAAAGTTTTGTTGATTCTTCTTTCTAAGCATGTCTTCAGAATTCAGAAAAACTTAAAGCCTAGTTCTTGGCTTCACAAAGCTCAAATAAATAATGATACCCTTTTTAAACAATTTAGTCCTACAGCCACTATACTGGGCACAGAAAGGGGACGGCAACAGTGGGGTTAGGGGAGGAGCCATGGTGATCAGGAGCAGGGCAAGAACCAGAGACGGGCTTCCTCAGGGGGCAACCTGCCGTGGGGTGTGGAGGCCTCAACGGGATGAGAAAGATATCCTTACAGGAGGCTGATCTGGTGCAGGGTATCAGAGCCAGAGCAGAACGAGGAGGACCTGCATGCAGCAGAGGCAGCTGGAGCAGGGAGAGGACGGCATCCACATGGGGAGGGGATGGTGGCAGAGTTGGGCACTGTTCAGGTGTATAGGTCCGGTAGATAAATGAGTTGGGAGTGAGAGAAGCCAGCGTCTCACTGTTGGAGAAGGGAGTTACAGATGTGGAAAGAAAAAAAACTAGAATGAGCCCTGTGGAGTTGGTTTTGGAGAGCTCATAGTGTTCACTGTATAGGTAGATAGAGAACTATAGATAGAGGTGTGTGCATACCTGTGTGTGTACATCCATATCTTCCCTAGTTCTATCACTGAGAAGGCCTGGGACCAATGGTGCTCCAGAGGCAATGAACATATCTAGCACTCAGACCTTGGCTTCTGAGGGCCACTTCCCACTGGCAGGAACCAGGGCTTCTTGGGGAGAGGGTAGGAATGGGGATAATGGAAGGATGAGCCTGGAATATCTTGCTGTGCCATTGAGCATGGAGGAGGTCCAGGGGCATGAGGACCCAAGTCAAGACGATACAGAAGCCAGCTTCAACGGCCCCCCACTGACCACAGTGGGGATAATGTGAATATCAAAATAAATAATGATAGTCTTGGATCATAGTCCATTGATTAACACATGAACCATGACTGCATACAGAGATAAATAAATGGATGAATAAATGGAAAATTGTATAATGAATAGGATATTTATATATCTTTGAAGTGCCTCTACCTGAAATTTGTATTTATTATAAAGGGGAAAAGAGTAATTTTACAGTGAAGAAGCTCAGCAGACACCTTCTTAAGTGACCGAATTGAACATCATCAGTAACAGAGCAAATTGAAATCAGAAGCCACCTGATAGGATGCAGTGAGAACACAGCATCTGTTTGCTGATACTGCTGCCAAGATGCACACCCTCAACCTGGGCAAGAGGAAACCTCAGACAAGCTCAGACCAAGGGACATTCTGCAAAATAACCAGCCTGCAGTCCTCAAAGTGTCAAGACCATGAGTGTTAACAAAAGACTGTGGAACTCTTCCAGGCTGAACGAGACTAAAGAAACAGCACAATCAAATGTCATGCATGATTCTGAGCTAGATCCTTTTTTCTGAAAGACATCACTGGGGCAATGGGCGAAAGAGGAGTGGGGTGTGAGGATTAGGTGGTGATGACACATCAGTGCTGGTTTCCTCATGTTGACAGTTTGTGTTGTGGTTGTATGGGGTGTATCCTCGTTTGTAGGAAGTATACATCGGACGTGCTGAGGGGTGTGAGAGAGAGAGACAGGAAGAGAGAAATAAATGAGAAGGGGCATCTTGCTGAGAAGTTACTTTCAAATGACTAAGAAAAAAAGGTTTCAA
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ACAACTGGGCTTGGCAGCTCATAAAAGTGAGGCATTCAGCATGGAGAACACCCAGTCTCTTCATCAAGATTAACTTGCCCAAGGAATAGTATATGTCAGAGTGTTACAATTTCCATAAGAAAGCGGGAGAAAGACCGTATAGGGATCTGCTGATGTGTCTCCAGAGCACACAGGAAACTCAAGTAAGAGTTTGCCTCTGGAGAAGAGAACTGCATGAGTGGGAAACAGGGGTAGGAAGGAGATTTTTTCATTGTATGCCTTTTTGTTCCTTTTAGATTTTGAAATTACCCAAATGTATTGATGTGTGTGTGTGTAAAACCCAACACCCAAAGTCCCTGAGAAAACCTTTCTGAAAGAGTAAGCAAAGCTTAAAGTTTATTGCAAGAATCAAGTTTTGCTTGCAGAATAAACACAGAAAACCATTTCATTCAGAGCACAGAAATGAAAAAGGTGCTTATAGGAAGGAAAGAAGGAAGAAAGAAGGAAGGATGGAGGGAGGGATGGAGGGAGGATGAAAGGAAAAAGGGAGAGAGGGCAGAAGGAAAGAGGAAGGGAAGGAGGGACGAAGGAAGGAAGGAAGCAATGAAAAAGGAAGGAAGGAGGGACGGGGGAAGGAGGGAGGAGGGAGGAGAAGAAGGAAAGAGGAAGGAAGGATGGGAGGAAGGAAGGAAGGAAAGGAGGCAGGGTCGGGGGTAGGGAGGAAGAAAGTGGCACTCATCCGCATACAGCTGCTACATGTACGATGCTTGCCCCTGGCTCTGCTCGACCAACACATACTCTACTATCCTACTAATCAAACAAAAAAGCCAAGAAAGTTATGCTCACCCGGTTATTCTCAAATAATTCCAAGATGAAGGTAATAGCACTGCTGTTGATGCCGATGAACAGATTAGCACAAGATAAAGCCACATAGGCTGTGCTGGGGACATCAAACAGGAAGGATGCTGGGTACATCATGGGAATGACCGCCCATCTGTGTGAAATGAGACAACTCAGAGTGATGGAGTTCCACATTCCATTCCACCTACAATACGTCTGGATATAATGCACTCCCCTTACACCTGAGGTGATGTGTGTGAACTGGCCAGAGTCCCAGGGGACCAGAGAGATACTCCATTTGTTGGTCTCTGTGCCTCAACTTTAAATGGAGATAATGATGCCTGCCTTGACCACTTCATGGGGTTTTGTGAGGAGCAAATGGGCTGCTAGCTGTGTATATACTCTGTAAACTACAAAGCCCTGTACAATTCATAGGAGGGTTCTCCAGCCTGCAACACCTCCCACTCTAGCCTGGGTCAGCAAAGCCCAGCTGAGGTCATCTCAGATGAGCCCAGTGAGCTCATCTTCACAGCTTATAGTCAGGTTGGTTCCCAAATTCTCTATTTCCAAGAGAAAGATGTGGAGAACAATGCTTTGGCAAGGCTCTACTGGCCCACAGAGGAAGGACCAGGATCACTATTTTCTTTTACAGATGAGGAAACTGAGGCCGAGATGGATGAATTACTCATTCAAATTTACACACGTGGGAAAGAAAGTTGCATGCTGGGCCCTGTAACTCTGCTGATGTAACCCCTGTGTCATCCTCTGTCCCTGACTCAGGAGGAGCTTTTTGGCCGGAGTCTTCTACTGTGGGCGGTAACTCTTGGCCAGTTCACATGGGGACACTGAGGTGGACAGATTGGCCACAGATGAGTGAGAGTCAGAGCTGGGTGAGGGGTTGGGGAATGGCTGCCCCCAGGCTTTGGTCAAGGCCTCAGTTTGAGTAGGAGATTCAGATCATGTGGGACTTCTCTCATTGTCACTGACAGGACCAGGCCTCAGAGATACCTCTGTCAGTGGAGTCAGAATCAGAAGCCAGACAGATCCCTGGTTATCAGCTTCAGACCCTACCTGGGGCCGGAAGCTAAACTTGTGGGTGCTACCACCACAGGACAGCCCAGGTTTTCTGTCAGGAGATGATCCCCCACCCCCACCACCAGGCTTCTCTTCAGAGGCATTAGCTAATGGCCCAAACGGCTTACCCATACAGCAGGAGCAGTGCCACAAGGTCAGGAAGGTTTTCTGGAGAAGTGTAGGCTTTCTTCTGAAACCCGATGAAGATGCCCACCACCAGCCCAGCACTCACGGAATAATTCATCTCGGAAAGAGAAGAGGAGAGCAAGTCACTTAACCTCTCAGACCTGCTGCCAGCTCTGCAAAATGAGGGGTGGGGCCAGGCTCCTCCAGCTCGTAGGGTCTGGGATTCTGATTCGACTTGCTTTTTAAACAGTTCTTGGTTGGCAAACATATGTTAAGCTGTCACTAGTCCTCCTACCCCACCCCATGCCCTACCTCCCTGCCAAGGGAACCTTTAGTTTGTATCTTTTGAAAGGATCAATTACAAAATTCTGCCTGGTCTCTCACTCTTTCTATTTGGTCATAAAGTTTTGTTGATTCTTCTTTCTAAGCATGTCTTCAGAATTCAGAAAAACTTAAAGCCTAGTTCTTGGCTTCACAAAGCTCAAATAAATAATGATACCCTTTTTAAACAATTTAGTCCTACAGCCACTATACTGGGCACAGAAAGGGGACGGCAACAGTGGGGTTAGGGGAGGAGCCATGGTGATCAGGAGCAGGGCAAGAACCAGAGACGGGCTTCCTCAGGGGGCAACCTGCCGTGGGGTGTGGAGGCCTCAACGGGATGAGAAAGATATCCTTACAGGAGGCTGATCTGGTGCAGGGTATCAGAGCCAGAGCAGAACGAGGAGGACCTGCATGCAGCAGAGGCAGCTGGAGCAGGGAGAGGACGGCATCCACATGGGGAGGGGATGGTGGCAGAGTTGGGCACTGTTCAGGTGTATAGGTCCGGTAGATAAATGAGTTGGGAGTGAGAGAAGCCAGCGTCTCACTGTTGGAGAAGGGAGTTACAGATGTGGAAAGAAAAAAAACTAGAATGAGCCCTGTGGAGTTGGTTTTGGAGAGCTCATAGTGTTCACTGTATAGGTAGATAGAGAACTATAGATAGAGGTGTGTGCATACCTGTGTGTGTACATCCATATCTTCCCTAGTTCTATCACTGAGAAGGCCTGGGACCAATGGTGCTCCAGAGGCAATGAACATATCTAGCACTCAGACCTTGGCTTCTGAGGGCCACTTCCCACTGGCAGGAACCAGGGCTTCTTGGGGAGAGGGTAGGAATGGGGATAATGGAAGGATGAGCCTGGAATATCTTGCTGTGCCATTGAGCATGGAGGAGGTCCAGGGGCATGAGGACCCAAGTCAAGACGATACAGAAGCCAGCTTCAACGGCCCCCCACTGACCACAGTGGGGATAATGTGAATATCAAAATAAATAATGATAGTCTTGGATCATAGTCCATTGATTAACACATGAACCATGACTGCATACAGAGATAAATAAATGGATGAATAAATGGAAAATTGTATAATGAATAGGATATTTATATATCTTTGAAGTGCCTCTACCTGAAATTTGTATTTATTATAAAGGGGAAAAGAGTAATTTTACAGTGAAGAAGCTCAGCAGACACCTTCTTAAGTGACCGAATTGAACATCATCAGTAACAGAGCAAATTGAAATCAGAAGCCACCTGATAGGATGCAGTGAGAACACAGCATCTGTTTGCTGATACTGCTGCCAAGATGCACACCCTCAACCTGGGCAAGAGGAAACCTCAGACAAGCTCAGACCAAGGGACATTCTGCAAAATAACCAGCCTGCAGTCCTCAAAGTGTCAAGACCATGAGTGTTAACAAAAGACTGTGGAACTCTTCCAGGCTGAACGAGACTAAAGAAACAGCACAATCAAATGTCATGCATGATTCTGAGCTAGATCCTTTTTTCTGAAAGACATCACTGGGGCAATGGGCGAAAGAGGAGTGGGGTGTGAGGATTAGGTGGTGATGACACATCAGTGCTGGTTTCCTCATGTTGACAGTTTGTGTTGTGGTTGTATGGGGTGTATCCTCGTTTGTAGGAAGTATACATCGGACGTGCTGAGGGGTGTGAGAGAGAGAGACAGGAAGAGAGAAATAAATGAGAAGGGGCATCTTGCTGAGAAGTTACTTTCAAATGACTAAGAAAAAAAGGTTTCAA
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Task1_train_1152
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A variant affecting Chromosome 1, within the gene ABCA4 (ATP binding cassette subfamily A member 4), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; not provided
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GGAGAACACCCAGTCTCTTCATCAAGATTAACTTGCCCAAGGAATAGTATATGTCAGAGTGTTACAATTTCCATAAGAAAGCGGGAGAAAGACCGTATAGGGATCTGCTGATGTGTCTCCAGAGCACACAGGAAACTCAAGTAAGAGTTTGCCTCTGGAGAAGAGAACTGCATGAGTGGGAAACAGGGGTAGGAAGGAGATTTTTTCATTGTATGCCTTTTTGTTCCTTTTAGATTTTGAAATTACCCAAATGTATTGATGTGTGTGTGTGTAAAACCCAACACCCAAAGTCCCTGAGAAAACCTTTCTGAAAGAGTAAGCAAAGCTTAAAGTTTATTGCAAGAATCAAGTTTTGCTTGCAGAATAAACACAGAAAACCATTTCATTCAGAGCACAGAAATGAAAAAGGTGCTTATAGGAAGGAAAGAAGGAAGAAAGAAGGAAGGATGGAGGGAGGGATGGAGGGAGGATGAAAGGAAAAAGGGAGAGAGGGCAGAAGGAAAGAGGAAGGGAAGGAGGGACGAAGGAAGGAAGGAAGCAATGAAAAAGGAAGGAAGGAGGGACGGGGGAAGGAGGGAGGAGGGAGGAGAAGAAGGAAAGAGGAAGGAAGGATGGGAGGAAGGAAGGAAGGAAAGGAGGCAGGGTCGGGGGTAGGGAGGAAGAAAGTGGCACTCATCCGCATACAGCTGCTACATGTACGATGCTTGCCCCTGGCTCTGCTCGACCAACACATACTCTACTATCCTACTAATCAAACAAAAAAGCCAAGAAAGTTATGCTCACCCGGTTATTCTCAAATAATTCCAAGATGAAGGTAATAGCACTGCTGTTGATGCCGATGAACAGATTAGCACAAGATAAAGCCACATAGGCTGTGCTGGGGACATCAAACAGGAAGGATGCTGGGTACATCATGGGAATGACCGCCCATCTGTGTGAAATGAGACAACTCAGAGTGATGGAGTTCCACATTCCATTCCACCTACAATACGTCTGGATATAATGCACTCCCCTTACACCTGAGGTGATGTGTGTGAACTGGCCAGAGTCCCAGGGGACCAGAGAGATACTCCATTTGTTGGTCTCTGTGCCTCAACTTTAAATGGAGATAATGATGCCTGCCTTGACCACTTCATGGGGTTTTGTGAGGAGCAAATGGGCTGCTAGCTGTGTATATACTCTGTAAACTACAAAGCCCTGTACAATTCATAGGAGGGTTCTCCAGCCTGCAACACCTCCCACTCTAGCCTGGGTCAGCAAAGCCCAGCTGAGGTCATCTCAGATGAGCCCAGTGAGCTCATCTTCACAGCTTATAGTCAGGTTGGTTCCCAAATTCTCTATTTCCAAGAGAAAGATGTGGAGAACAATGCTTTGGCAAGGCTCTACTGGCCCACAGAGGAAGGACCAGGATCACTATTTTCTTTTACAGATGAGGAAACTGAGGCCGAGATGGATGAATTACTCATTCAAATTTACACACGTGGGAAAGAAAGTTGCATGCTGGGCCCTGTAACTCTGCTGATGTAACCCCTGTGTCATCCTCTGTCCCTGACTCAGGAGGAGCTTTTTGGCCGGAGTCTTCTACTGTGGGCGGTAACTCTTGGCCAGTTCACATGGGGACACTGAGGTGGACAGATTGGCCACAGATGAGTGAGAGTCAGAGCTGGGTGAGGGGTTGGGGAATGGCTGCCCCCAGGCTTTGGTCAAGGCCTCAGTTTGAGTAGGAGATTCAGATCATGTGGGACTTCTCTCATTGTCACTGACAGGACCAGGCCTCAGAGATACCTCTGTCAGTGGAGTCAGAATCAGAAGCCAGACAGATCCCTGGTTATCAGCTTCAGACCCTACCTGGGGCCGGAAGCTAAACTTGTGGGTGCTACCACCACAGGACAGCCCAGGTTTTCTGTCAGGAGATGATCCCCCACCCCCACCACCAGGCTTCTCTTCAGAGGCATTAGCTAATGGCCCAAACGGCTTACCCATACAGCAGGAGCAGTGCCACAAGGGCAGGAAGGTTTTCTGGAGAAGTGTAGGCTTTCTTCTGAAACCCGATGAAGATGCCCACCACCAGCCCAGCACTCACGGAATAATTCATCTCGGAAAGAGAAGAGGAGAGCAAGTCACTTAACCTCTCAGACCTGCTGCCAGCTCTGCAAAATGAGGGGTGGGGCCAGGCTCCTCCAGCTCGTAGGGTCTGGGATTCTGATTCGACTTGCTTTTTAAACAGTTCTTGGTTGGCAAACATATGTTAAGCTGTCACTAGTCCTCCTACCCCACCCCATGCCCTACCTCCCTGCCAAGGGAACCTTTAGTTTGTATCTTTTGAAAGGATCAATTACAAAATTCTGCCTGGTCTCTCACTCTTTCTATTTGGTCATAAAGTTTTGTTGATTCTTCTTTCTAAGCATGTCTTCAGAATTCAGAAAAACTTAAAGCCTAGTTCTTGGCTTCACAAAGCTCAAATAAATAATGATACCCTTTTTAAACAATTTAGTCCTACAGCCACTATACTGGGCACAGAAAGGGGACGGCAACAGTGGGGTTAGGGGAGGAGCCATGGTGATCAGGAGCAGGGCAAGAACCAGAGACGGGCTTCCTCAGGGGGCAACCTGCCGTGGGGTGTGGAGGCCTCAACGGGATGAGAAAGATATCCTTACAGGAGGCTGATCTGGTGCAGGGTATCAGAGCCAGAGCAGAACGAGGAGGACCTGCATGCAGCAGAGGCAGCTGGAGCAGGGAGAGGACGGCATCCACATGGGGAGGGGATGGTGGCAGAGTTGGGCACTGTTCAGGTGTATAGGTCCGGTAGATAAATGAGTTGGGAGTGAGAGAAGCCAGCGTCTCACTGTTGGAGAAGGGAGTTACAGATGTGGAAAGAAAAAAAACTAGAATGAGCCCTGTGGAGTTGGTTTTGGAGAGCTCATAGTGTTCACTGTATAGGTAGATAGAGAACTATAGATAGAGGTGTGTGCATACCTGTGTGTGTACATCCATATCTTCCCTAGTTCTATCACTGAGAAGGCCTGGGACCAATGGTGCTCCAGAGGCAATGAACATATCTAGCACTCAGACCTTGGCTTCTGAGGGCCACTTCCCACTGGCAGGAACCAGGGCTTCTTGGGGAGAGGGTAGGAATGGGGATAATGGAAGGATGAGCCTGGAATATCTTGCTGTGCCATTGAGCATGGAGGAGGTCCAGGGGCATGAGGACCCAAGTCAAGACGATACAGAAGCCAGCTTCAACGGCCCCCCACTGACCACAGTGGGGATAATGTGAATATCAAAATAAATAATGATAGTCTTGGATCATAGTCCATTGATTAACACATGAACCATGACTGCATACAGAGATAAATAAATGGATGAATAAATGGAAAATTGTATAATGAATAGGATATTTATATATCTTTGAAGTGCCTCTACCTGAAATTTGTATTTATTATAAAGGGGAAAAGAGTAATTTTACAGTGAAGAAGCTCAGCAGACACCTTCTTAAGTGACCGAATTGAACATCATCAGTAACAGAGCAAATTGAAATCAGAAGCCACCTGATAGGATGCAGTGAGAACACAGCATCTGTTTGCTGATACTGCTGCCAAGATGCACACCCTCAACCTGGGCAAGAGGAAACCTCAGACAAGCTCAGACCAAGGGACATTCTGCAAAATAACCAGCCTGCAGTCCTCAAAGTGTCAAGACCATGAGTGTTAACAAAAGACTGTGGAACTCTTCCAGGCTGAACGAGACTAAAGAAACAGCACAATCAAATGTCATGCATGATTCTGAGCTAGATCCTTTTTTCTGAAAGACATCACTGGGGCAATGGGCGAAAGAGGAGTGGGGTGTGAGGATTAGGTGGTGATGACACATCAGTGCTGGTTTCCTCATGTTGACAGTTTGTGTTGTGGTTGTATGGGGTGTATCCTCGTTTGTAGGAAGTATACATCGGACGTGCTGAGGGGTGTGAGAGAGAGAGACAGGAAGAGAGAAATAAATGAGAAGGGGCATCTTGCTGAGAAGTTACTTTCAAATGACTAAGAAAAAAAGGTTTCAACTGTACTTGTGACTTTTCCATAAGTCTGTAACTGTTGCAAAA
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GGAGAACACCCAGTCTCTTCATCAAGATTAACTTGCCCAAGGAATAGTATATGTCAGAGTGTTACAATTTCCATAAGAAAGCGGGAGAAAGACCGTATAGGGATCTGCTGATGTGTCTCCAGAGCACACAGGAAACTCAAGTAAGAGTTTGCCTCTGGAGAAGAGAACTGCATGAGTGGGAAACAGGGGTAGGAAGGAGATTTTTTCATTGTATGCCTTTTTGTTCCTTTTAGATTTTGAAATTACCCAAATGTATTGATGTGTGTGTGTGTAAAACCCAACACCCAAAGTCCCTGAGAAAACCTTTCTGAAAGAGTAAGCAAAGCTTAAAGTTTATTGCAAGAATCAAGTTTTGCTTGCAGAATAAACACAGAAAACCATTTCATTCAGAGCACAGAAATGAAAAAGGTGCTTATAGGAAGGAAAGAAGGAAGAAAGAAGGAAGGATGGAGGGAGGGATGGAGGGAGGATGAAAGGAAAAAGGGAGAGAGGGCAGAAGGAAAGAGGAAGGGAAGGAGGGACGAAGGAAGGAAGGAAGCAATGAAAAAGGAAGGAAGGAGGGACGGGGGAAGGAGGGAGGAGGGAGGAGAAGAAGGAAAGAGGAAGGAAGGATGGGAGGAAGGAAGGAAGGAAAGGAGGCAGGGTCGGGGGTAGGGAGGAAGAAAGTGGCACTCATCCGCATACAGCTGCTACATGTACGATGCTTGCCCCTGGCTCTGCTCGACCAACACATACTCTACTATCCTACTAATCAAACAAAAAAGCCAAGAAAGTTATGCTCACCCGGTTATTCTCAAATAATTCCAAGATGAAGGTAATAGCACTGCTGTTGATGCCGATGAACAGATTAGCACAAGATAAAGCCACATAGGCTGTGCTGGGGACATCAAACAGGAAGGATGCTGGGTACATCATGGGAATGACCGCCCATCTGTGTGAAATGAGACAACTCAGAGTGATGGAGTTCCACATTCCATTCCACCTACAATACGTCTGGATATAATGCACTCCCCTTACACCTGAGGTGATGTGTGTGAACTGGCCAGAGTCCCAGGGGACCAGAGAGATACTCCATTTGTTGGTCTCTGTGCCTCAACTTTAAATGGAGATAATGATGCCTGCCTTGACCACTTCATGGGGTTTTGTGAGGAGCAAATGGGCTGCTAGCTGTGTATATACTCTGTAAACTACAAAGCCCTGTACAATTCATAGGAGGGTTCTCCAGCCTGCAACACCTCCCACTCTAGCCTGGGTCAGCAAAGCCCAGCTGAGGTCATCTCAGATGAGCCCAGTGAGCTCATCTTCACAGCTTATAGTCAGGTTGGTTCCCAAATTCTCTATTTCCAAGAGAAAGATGTGGAGAACAATGCTTTGGCAAGGCTCTACTGGCCCACAGAGGAAGGACCAGGATCACTATTTTCTTTTACAGATGAGGAAACTGAGGCCGAGATGGATGAATTACTCATTCAAATTTACACACGTGGGAAAGAAAGTTGCATGCTGGGCCCTGTAACTCTGCTGATGTAACCCCTGTGTCATCCTCTGTCCCTGACTCAGGAGGAGCTTTTTGGCCGGAGTCTTCTACTGTGGGCGGTAACTCTTGGCCAGTTCACATGGGGACACTGAGGTGGACAGATTGGCCACAGATGAGTGAGAGTCAGAGCTGGGTGAGGGGTTGGGGAATGGCTGCCCCCAGGCTTTGGTCAAGGCCTCAGTTTGAGTAGGAGATTCAGATCATGTGGGACTTCTCTCATTGTCACTGACAGGACCAGGCCTCAGAGATACCTCTGTCAGTGGAGTCAGAATCAGAAGCCAGACAGATCCCTGGTTATCAGCTTCAGACCCTACCTGGGGCCGGAAGCTAAACTTGTGGGTGCTACCACCACAGGACAGCCCAGGTTTTCTGTCAGGAGATGATCCCCCACCCCCACCACCAGGCTTCTCTTCAGAGGCATTAGCTAATGGCCCAAACGGCTTACCCATACAGCAGGAGCAGTGCCACAAGGGCAGGAAGGTTTTCTGGAGAAGTGTAGGCTTTCTTCTGAAACTCGATGAAGATGCCCACCACCAGCCCAGCACTCACGGAATAATTCATCTCGGAAAGAGAAGAGGAGAGCAAGTCACTTAACCTCTCAGACCTGCTGCCAGCTCTGCAAAATGAGGGGTGGGGCCAGGCTCCTCCAGCTCGTAGGGTCTGGGATTCTGATTCGACTTGCTTTTTAAACAGTTCTTGGTTGGCAAACATATGTTAAGCTGTCACTAGTCCTCCTACCCCACCCCATGCCCTACCTCCCTGCCAAGGGAACCTTTAGTTTGTATCTTTTGAAAGGATCAATTACAAAATTCTGCCTGGTCTCTCACTCTTTCTATTTGGTCATAAAGTTTTGTTGATTCTTCTTTCTAAGCATGTCTTCAGAATTCAGAAAAACTTAAAGCCTAGTTCTTGGCTTCACAAAGCTCAAATAAATAATGATACCCTTTTTAAACAATTTAGTCCTACAGCCACTATACTGGGCACAGAAAGGGGACGGCAACAGTGGGGTTAGGGGAGGAGCCATGGTGATCAGGAGCAGGGCAAGAACCAGAGACGGGCTTCCTCAGGGGGCAACCTGCCGTGGGGTGTGGAGGCCTCAACGGGATGAGAAAGATATCCTTACAGGAGGCTGATCTGGTGCAGGGTATCAGAGCCAGAGCAGAACGAGGAGGACCTGCATGCAGCAGAGGCAGCTGGAGCAGGGAGAGGACGGCATCCACATGGGGAGGGGATGGTGGCAGAGTTGGGCACTGTTCAGGTGTATAGGTCCGGTAGATAAATGAGTTGGGAGTGAGAGAAGCCAGCGTCTCACTGTTGGAGAAGGGAGTTACAGATGTGGAAAGAAAAAAAACTAGAATGAGCCCTGTGGAGTTGGTTTTGGAGAGCTCATAGTGTTCACTGTATAGGTAGATAGAGAACTATAGATAGAGGTGTGTGCATACCTGTGTGTGTACATCCATATCTTCCCTAGTTCTATCACTGAGAAGGCCTGGGACCAATGGTGCTCCAGAGGCAATGAACATATCTAGCACTCAGACCTTGGCTTCTGAGGGCCACTTCCCACTGGCAGGAACCAGGGCTTCTTGGGGAGAGGGTAGGAATGGGGATAATGGAAGGATGAGCCTGGAATATCTTGCTGTGCCATTGAGCATGGAGGAGGTCCAGGGGCATGAGGACCCAAGTCAAGACGATACAGAAGCCAGCTTCAACGGCCCCCCACTGACCACAGTGGGGATAATGTGAATATCAAAATAAATAATGATAGTCTTGGATCATAGTCCATTGATTAACACATGAACCATGACTGCATACAGAGATAAATAAATGGATGAATAAATGGAAAATTGTATAATGAATAGGATATTTATATATCTTTGAAGTGCCTCTACCTGAAATTTGTATTTATTATAAAGGGGAAAAGAGTAATTTTACAGTGAAGAAGCTCAGCAGACACCTTCTTAAGTGACCGAATTGAACATCATCAGTAACAGAGCAAATTGAAATCAGAAGCCACCTGATAGGATGCAGTGAGAACACAGCATCTGTTTGCTGATACTGCTGCCAAGATGCACACCCTCAACCTGGGCAAGAGGAAACCTCAGACAAGCTCAGACCAAGGGACATTCTGCAAAATAACCAGCCTGCAGTCCTCAAAGTGTCAAGACCATGAGTGTTAACAAAAGACTGTGGAACTCTTCCAGGCTGAACGAGACTAAAGAAACAGCACAATCAAATGTCATGCATGATTCTGAGCTAGATCCTTTTTTCTGAAAGACATCACTGGGGCAATGGGCGAAAGAGGAGTGGGGTGTGAGGATTAGGTGGTGATGACACATCAGTGCTGGTTTCCTCATGTTGACAGTTTGTGTTGTGGTTGTATGGGGTGTATCCTCGTTTGTAGGAAGTATACATCGGACGTGCTGAGGGGTGTGAGAGAGAGAGACAGGAAGAGAGAAATAAATGAGAAGGGGCATCTTGCTGAGAAGTTACTTTCAAATGACTAAGAAAAAAAGGTTTCAACTGTACTTGTGACTTTTCCATAAGTCTGTAACTGTTGCAAAA
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Task1_train_1153
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A mutation on Chromosome 1 affecting ABCA4 (ATP binding cassette subfamily A member 4) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; not specified
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GAGAACACCCAGTCTCTTCATCAAGATTAACTTGCCCAAGGAATAGTATATGTCAGAGTGTTACAATTTCCATAAGAAAGCGGGAGAAAGACCGTATAGGGATCTGCTGATGTGTCTCCAGAGCACACAGGAAACTCAAGTAAGAGTTTGCCTCTGGAGAAGAGAACTGCATGAGTGGGAAACAGGGGTAGGAAGGAGATTTTTTCATTGTATGCCTTTTTGTTCCTTTTAGATTTTGAAATTACCCAAATGTATTGATGTGTGTGTGTGTAAAACCCAACACCCAAAGTCCCTGAGAAAACCTTTCTGAAAGAGTAAGCAAAGCTTAAAGTTTATTGCAAGAATCAAGTTTTGCTTGCAGAATAAACACAGAAAACCATTTCATTCAGAGCACAGAAATGAAAAAGGTGCTTATAGGAAGGAAAGAAGGAAGAAAGAAGGAAGGATGGAGGGAGGGATGGAGGGAGGATGAAAGGAAAAAGGGAGAGAGGGCAGAAGGAAAGAGGAAGGGAAGGAGGGACGAAGGAAGGAAGGAAGCAATGAAAAAGGAAGGAAGGAGGGACGGGGGAAGGAGGGAGGAGGGAGGAGAAGAAGGAAAGAGGAAGGAAGGATGGGAGGAAGGAAGGAAGGAAAGGAGGCAGGGTCGGGGGTAGGGAGGAAGAAAGTGGCACTCATCCGCATACAGCTGCTACATGTACGATGCTTGCCCCTGGCTCTGCTCGACCAACACATACTCTACTATCCTACTAATCAAACAAAAAAGCCAAGAAAGTTATGCTCACCCGGTTATTCTCAAATAATTCCAAGATGAAGGTAATAGCACTGCTGTTGATGCCGATGAACAGATTAGCACAAGATAAAGCCACATAGGCTGTGCTGGGGACATCAAACAGGAAGGATGCTGGGTACATCATGGGAATGACCGCCCATCTGTGTGAAATGAGACAACTCAGAGTGATGGAGTTCCACATTCCATTCCACCTACAATACGTCTGGATATAATGCACTCCCCTTACACCTGAGGTGATGTGTGTGAACTGGCCAGAGTCCCAGGGGACCAGAGAGATACTCCATTTGTTGGTCTCTGTGCCTCAACTTTAAATGGAGATAATGATGCCTGCCTTGACCACTTCATGGGGTTTTGTGAGGAGCAAATGGGCTGCTAGCTGTGTATATACTCTGTAAACTACAAAGCCCTGTACAATTCATAGGAGGGTTCTCCAGCCTGCAACACCTCCCACTCTAGCCTGGGTCAGCAAAGCCCAGCTGAGGTCATCTCAGATGAGCCCAGTGAGCTCATCTTCACAGCTTATAGTCAGGTTGGTTCCCAAATTCTCTATTTCCAAGAGAAAGATGTGGAGAACAATGCTTTGGCAAGGCTCTACTGGCCCACAGAGGAAGGACCAGGATCACTATTTTCTTTTACAGATGAGGAAACTGAGGCCGAGATGGATGAATTACTCATTCAAATTTACACACGTGGGAAAGAAAGTTGCATGCTGGGCCCTGTAACTCTGCTGATGTAACCCCTGTGTCATCCTCTGTCCCTGACTCAGGAGGAGCTTTTTGGCCGGAGTCTTCTACTGTGGGCGGTAACTCTTGGCCAGTTCACATGGGGACACTGAGGTGGACAGATTGGCCACAGATGAGTGAGAGTCAGAGCTGGGTGAGGGGTTGGGGAATGGCTGCCCCCAGGCTTTGGTCAAGGCCTCAGTTTGAGTAGGAGATTCAGATCATGTGGGACTTCTCTCATTGTCACTGACAGGACCAGGCCTCAGAGATACCTCTGTCAGTGGAGTCAGAATCAGAAGCCAGACAGATCCCTGGTTATCAGCTTCAGACCCTACCTGGGGCCGGAAGCTAAACTTGTGGGTGCTACCACCACAGGACAGCCCAGGTTTTCTGTCAGGAGATGATCCCCCACCCCCACCACCAGGCTTCTCTTCAGAGGCATTAGCTAATGGCCCAAACGGCTTACCCATACAGCAGGAGCAGTGCCACAAGGGCAGGAAGGTTTTCTGGAGAAGTGTAGGCTTTCTTCTGAAACCCGATGAAGATGCCCACCACCAGCCCAGCACTCACGGAATAATTCATCTCGGAAAGAGAAGAGGAGAGCAAGTCACTTAACCTCTCAGACCTGCTGCCAGCTCTGCAAAATGAGGGGTGGGGCCAGGCTCCTCCAGCTCGTAGGGTCTGGGATTCTGATTCGACTTGCTTTTTAAACAGTTCTTGGTTGGCAAACATATGTTAAGCTGTCACTAGTCCTCCTACCCCACCCCATGCCCTACCTCCCTGCCAAGGGAACCTTTAGTTTGTATCTTTTGAAAGGATCAATTACAAAATTCTGCCTGGTCTCTCACTCTTTCTATTTGGTCATAAAGTTTTGTTGATTCTTCTTTCTAAGCATGTCTTCAGAATTCAGAAAAACTTAAAGCCTAGTTCTTGGCTTCACAAAGCTCAAATAAATAATGATACCCTTTTTAAACAATTTAGTCCTACAGCCACTATACTGGGCACAGAAAGGGGACGGCAACAGTGGGGTTAGGGGAGGAGCCATGGTGATCAGGAGCAGGGCAAGAACCAGAGACGGGCTTCCTCAGGGGGCAACCTGCCGTGGGGTGTGGAGGCCTCAACGGGATGAGAAAGATATCCTTACAGGAGGCTGATCTGGTGCAGGGTATCAGAGCCAGAGCAGAACGAGGAGGACCTGCATGCAGCAGAGGCAGCTGGAGCAGGGAGAGGACGGCATCCACATGGGGAGGGGATGGTGGCAGAGTTGGGCACTGTTCAGGTGTATAGGTCCGGTAGATAAATGAGTTGGGAGTGAGAGAAGCCAGCGTCTCACTGTTGGAGAAGGGAGTTACAGATGTGGAAAGAAAAAAAACTAGAATGAGCCCTGTGGAGTTGGTTTTGGAGAGCTCATAGTGTTCACTGTATAGGTAGATAGAGAACTATAGATAGAGGTGTGTGCATACCTGTGTGTGTACATCCATATCTTCCCTAGTTCTATCACTGAGAAGGCCTGGGACCAATGGTGCTCCAGAGGCAATGAACATATCTAGCACTCAGACCTTGGCTTCTGAGGGCCACTTCCCACTGGCAGGAACCAGGGCTTCTTGGGGAGAGGGTAGGAATGGGGATAATGGAAGGATGAGCCTGGAATATCTTGCTGTGCCATTGAGCATGGAGGAGGTCCAGGGGCATGAGGACCCAAGTCAAGACGATACAGAAGCCAGCTTCAACGGCCCCCCACTGACCACAGTGGGGATAATGTGAATATCAAAATAAATAATGATAGTCTTGGATCATAGTCCATTGATTAACACATGAACCATGACTGCATACAGAGATAAATAAATGGATGAATAAATGGAAAATTGTATAATGAATAGGATATTTATATATCTTTGAAGTGCCTCTACCTGAAATTTGTATTTATTATAAAGGGGAAAAGAGTAATTTTACAGTGAAGAAGCTCAGCAGACACCTTCTTAAGTGACCGAATTGAACATCATCAGTAACAGAGCAAATTGAAATCAGAAGCCACCTGATAGGATGCAGTGAGAACACAGCATCTGTTTGCTGATACTGCTGCCAAGATGCACACCCTCAACCTGGGCAAGAGGAAACCTCAGACAAGCTCAGACCAAGGGACATTCTGCAAAATAACCAGCCTGCAGTCCTCAAAGTGTCAAGACCATGAGTGTTAACAAAAGACTGTGGAACTCTTCCAGGCTGAACGAGACTAAAGAAACAGCACAATCAAATGTCATGCATGATTCTGAGCTAGATCCTTTTTTCTGAAAGACATCACTGGGGCAATGGGCGAAAGAGGAGTGGGGTGTGAGGATTAGGTGGTGATGACACATCAGTGCTGGTTTCCTCATGTTGACAGTTTGTGTTGTGGTTGTATGGGGTGTATCCTCGTTTGTAGGAAGTATACATCGGACGTGCTGAGGGGTGTGAGAGAGAGAGACAGGAAGAGAGAAATAAATGAGAAGGGGCATCTTGCTGAGAAGTTACTTTCAAATGACTAAGAAAAAAAGGTTTCAACTGTACTTGTGACTTTTCCATAAGTCTGTAACTGTTGCAAAAT
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GAGAACACCCAGTCTCTTCATCAAGATTAACTTGCCCAAGGAATAGTATATGTCAGAGTGTTACAATTTCCATAAGAAAGCGGGAGAAAGACCGTATAGGGATCTGCTGATGTGTCTCCAGAGCACACAGGAAACTCAAGTAAGAGTTTGCCTCTGGAGAAGAGAACTGCATGAGTGGGAAACAGGGGTAGGAAGGAGATTTTTTCATTGTATGCCTTTTTGTTCCTTTTAGATTTTGAAATTACCCAAATGTATTGATGTGTGTGTGTGTAAAACCCAACACCCAAAGTCCCTGAGAAAACCTTTCTGAAAGAGTAAGCAAAGCTTAAAGTTTATTGCAAGAATCAAGTTTTGCTTGCAGAATAAACACAGAAAACCATTTCATTCAGAGCACAGAAATGAAAAAGGTGCTTATAGGAAGGAAAGAAGGAAGAAAGAAGGAAGGATGGAGGGAGGGATGGAGGGAGGATGAAAGGAAAAAGGGAGAGAGGGCAGAAGGAAAGAGGAAGGGAAGGAGGGACGAAGGAAGGAAGGAAGCAATGAAAAAGGAAGGAAGGAGGGACGGGGGAAGGAGGGAGGAGGGAGGAGAAGAAGGAAAGAGGAAGGAAGGATGGGAGGAAGGAAGGAAGGAAAGGAGGCAGGGTCGGGGGTAGGGAGGAAGAAAGTGGCACTCATCCGCATACAGCTGCTACATGTACGATGCTTGCCCCTGGCTCTGCTCGACCAACACATACTCTACTATCCTACTAATCAAACAAAAAAGCCAAGAAAGTTATGCTCACCCGGTTATTCTCAAATAATTCCAAGATGAAGGTAATAGCACTGCTGTTGATGCCGATGAACAGATTAGCACAAGATAAAGCCACATAGGCTGTGCTGGGGACATCAAACAGGAAGGATGCTGGGTACATCATGGGAATGACCGCCCATCTGTGTGAAATGAGACAACTCAGAGTGATGGAGTTCCACATTCCATTCCACCTACAATACGTCTGGATATAATGCACTCCCCTTACACCTGAGGTGATGTGTGTGAACTGGCCAGAGTCCCAGGGGACCAGAGAGATACTCCATTTGTTGGTCTCTGTGCCTCAACTTTAAATGGAGATAATGATGCCTGCCTTGACCACTTCATGGGGTTTTGTGAGGAGCAAATGGGCTGCTAGCTGTGTATATACTCTGTAAACTACAAAGCCCTGTACAATTCATAGGAGGGTTCTCCAGCCTGCAACACCTCCCACTCTAGCCTGGGTCAGCAAAGCCCAGCTGAGGTCATCTCAGATGAGCCCAGTGAGCTCATCTTCACAGCTTATAGTCAGGTTGGTTCCCAAATTCTCTATTTCCAAGAGAAAGATGTGGAGAACAATGCTTTGGCAAGGCTCTACTGGCCCACAGAGGAAGGACCAGGATCACTATTTTCTTTTACAGATGAGGAAACTGAGGCCGAGATGGATGAATTACTCATTCAAATTTACACACGTGGGAAAGAAAGTTGCATGCTGGGCCCTGTAACTCTGCTGATGTAACCCCTGTGTCATCCTCTGTCCCTGACTCAGGAGGAGCTTTTTGGCCGGAGTCTTCTACTGTGGGCGGTAACTCTTGGCCAGTTCACATGGGGACACTGAGGTGGACAGATTGGCCACAGATGAGTGAGAGTCAGAGCTGGGTGAGGGGTTGGGGAATGGCTGCCCCCAGGCTTTGGTCAAGGCCTCAGTTTGAGTAGGAGATTCAGATCATGTGGGACTTCTCTCATTGTCACTGACAGGACCAGGCCTCAGAGATACCTCTGTCAGTGGAGTCAGAATCAGAAGCCAGACAGATCCCTGGTTATCAGCTTCAGACCCTACCTGGGGCCGGAAGCTAAACTTGTGGGTGCTACCACCACAGGACAGCCCAGGTTTTCTGTCAGGAGATGATCCCCCACCCCCACCACCAGGCTTCTCTTCAGAGGCATTAGCTAATGGCCCAAACGGCTTACCCATACAGCAGGAGCAGTGCCACAAGGGCAGGAAGGTTTTCTGGAGAAGTGTAGGCTTTCTTCTGAAACCTGATGAAGATGCCCACCACCAGCCCAGCACTCACGGAATAATTCATCTCGGAAAGAGAAGAGGAGAGCAAGTCACTTAACCTCTCAGACCTGCTGCCAGCTCTGCAAAATGAGGGGTGGGGCCAGGCTCCTCCAGCTCGTAGGGTCTGGGATTCTGATTCGACTTGCTTTTTAAACAGTTCTTGGTTGGCAAACATATGTTAAGCTGTCACTAGTCCTCCTACCCCACCCCATGCCCTACCTCCCTGCCAAGGGAACCTTTAGTTTGTATCTTTTGAAAGGATCAATTACAAAATTCTGCCTGGTCTCTCACTCTTTCTATTTGGTCATAAAGTTTTGTTGATTCTTCTTTCTAAGCATGTCTTCAGAATTCAGAAAAACTTAAAGCCTAGTTCTTGGCTTCACAAAGCTCAAATAAATAATGATACCCTTTTTAAACAATTTAGTCCTACAGCCACTATACTGGGCACAGAAAGGGGACGGCAACAGTGGGGTTAGGGGAGGAGCCATGGTGATCAGGAGCAGGGCAAGAACCAGAGACGGGCTTCCTCAGGGGGCAACCTGCCGTGGGGTGTGGAGGCCTCAACGGGATGAGAAAGATATCCTTACAGGAGGCTGATCTGGTGCAGGGTATCAGAGCCAGAGCAGAACGAGGAGGACCTGCATGCAGCAGAGGCAGCTGGAGCAGGGAGAGGACGGCATCCACATGGGGAGGGGATGGTGGCAGAGTTGGGCACTGTTCAGGTGTATAGGTCCGGTAGATAAATGAGTTGGGAGTGAGAGAAGCCAGCGTCTCACTGTTGGAGAAGGGAGTTACAGATGTGGAAAGAAAAAAAACTAGAATGAGCCCTGTGGAGTTGGTTTTGGAGAGCTCATAGTGTTCACTGTATAGGTAGATAGAGAACTATAGATAGAGGTGTGTGCATACCTGTGTGTGTACATCCATATCTTCCCTAGTTCTATCACTGAGAAGGCCTGGGACCAATGGTGCTCCAGAGGCAATGAACATATCTAGCACTCAGACCTTGGCTTCTGAGGGCCACTTCCCACTGGCAGGAACCAGGGCTTCTTGGGGAGAGGGTAGGAATGGGGATAATGGAAGGATGAGCCTGGAATATCTTGCTGTGCCATTGAGCATGGAGGAGGTCCAGGGGCATGAGGACCCAAGTCAAGACGATACAGAAGCCAGCTTCAACGGCCCCCCACTGACCACAGTGGGGATAATGTGAATATCAAAATAAATAATGATAGTCTTGGATCATAGTCCATTGATTAACACATGAACCATGACTGCATACAGAGATAAATAAATGGATGAATAAATGGAAAATTGTATAATGAATAGGATATTTATATATCTTTGAAGTGCCTCTACCTGAAATTTGTATTTATTATAAAGGGGAAAAGAGTAATTTTACAGTGAAGAAGCTCAGCAGACACCTTCTTAAGTGACCGAATTGAACATCATCAGTAACAGAGCAAATTGAAATCAGAAGCCACCTGATAGGATGCAGTGAGAACACAGCATCTGTTTGCTGATACTGCTGCCAAGATGCACACCCTCAACCTGGGCAAGAGGAAACCTCAGACAAGCTCAGACCAAGGGACATTCTGCAAAATAACCAGCCTGCAGTCCTCAAAGTGTCAAGACCATGAGTGTTAACAAAAGACTGTGGAACTCTTCCAGGCTGAACGAGACTAAAGAAACAGCACAATCAAATGTCATGCATGATTCTGAGCTAGATCCTTTTTTCTGAAAGACATCACTGGGGCAATGGGCGAAAGAGGAGTGGGGTGTGAGGATTAGGTGGTGATGACACATCAGTGCTGGTTTCCTCATGTTGACAGTTTGTGTTGTGGTTGTATGGGGTGTATCCTCGTTTGTAGGAAGTATACATCGGACGTGCTGAGGGGTGTGAGAGAGAGAGACAGGAAGAGAGAAATAAATGAGAAGGGGCATCTTGCTGAGAAGTTACTTTCAAATGACTAAGAAAAAAAGGTTTCAACTGTACTTGTGACTTTTCCATAAGTCTGTAACTGTTGCAAAAT
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Task1_train_1154
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Here is a genetic alteration in ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Retinal dystrophy
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GAGCTAGATCCTTTTTTCTGAAAGACATCACTGGGGCAATGGGCGAAAGAGGAGTGGGGTGTGAGGATTAGGTGGTGATGACACATCAGTGCTGGTTTCCTCATGTTGACAGTTTGTGTTGTGGTTGTATGGGGTGTATCCTCGTTTGTAGGAAGTATACATCGGACGTGCTGAGGGGTGTGAGAGAGAGAGACAGGAAGAGAGAAATAAATGAGAAGGGGCATCTTGCTGAGAAGTTACTTTCAAATGACTAAGAAAAAAAGGTTTCAACTGTACTTGTGACTTTTCCATAAGTCTGTAACTGTTGCAAAATTTTAAAGTAAAGAAAAATAGATGACACATATAAGAATTTAAAACATCATATATGTGCTAAGTGAATTACATAAGCAATAATTGTTTGTTCCTTCATTCAACTTTTTTTTTGCCACTGGCTAATGGTGGTCCTAAGTTCCAAAATGATGGATCGCGGAGGTGAGATTCCAGGCCAGCTTTAAAATTCTGGAGCATCAGAAAGCCTGCTAACATGATGCCTACCATCTTCTACCCCTTCATTGGACTGCCAGCTAGTATCACCTCCCACCTCAGATGTCCACTCTATCCTAGCTACATCTCTCTCCATAGGCTCAGAGATCCCTGTAAGCGCACACGCGCGTGCGTGCACACATACACACACACAGAAACACGTGGGCCAGCCCCAAGTGTGTAAATTCTATTTCTTATCTTTTAAAAAAAGTAAAATTAAAAGCCTCCGCACTTTTCTAAGTAACTTTTCGGTACCGGTGGGCCTAGCTCCTTTTATATTAGCATCACAGGGCCAATGTGGTACCTGCAGTTGATGCTCTTATCCAAAGAAAGGCTTTCAGGTTCTGACCTCCTCCCCGTGCATTTATGAGTGTTTCCTCGTGTAGACAGAAGAGAGAGGAAATAATTTAGTTGCTACTGATAATCTCTGGTTTTGTATTGTTAAGTGATAGCTGCTTACTAAGCTGAGTAAGATAGAAATCATATCTTCAGGAATTCCAATATTCACCATCATTTTAAAAAACCATGGATGAGAAGGTCATTTGTGTTGGTCTCCATCAGTTGGTATATCTTATCATCACATGAAATGGAGGCTCATGTTGGTCTTAAAATGTTGAGATTTTACTACTCAAGACACCTAGAATAAATTGGGGTTGATGTCATAATGATCCCTGTTACATTATAACTAGGCCTTTACTACCAATTCCTTTGACCCTGCAGCCTGTAATAGGGTACGCTATCCTGACCCCTCCCTACCCCCACCAACCTTGGTTGTCAGGAAGGTGGTAGTGTGCTATTGATTTAATAAATATTTTTTCTTCATTTTTCCCTGTAGCGGTGGTTAATCTAATAAGTGAAGGTCTTATTATTTTGGCCACTGGCTGGGGTTGCCAGATTTGGCAAATAAAAATCTAGGATGCCTAGTGAAATTTGAGTTTCAGATAAACAACCAGGTTTTTTTTTTTTTTTTTTTTTTTTTTAGTGTAGATATGTCCTGTGCAATATTTGAAGTAGCATATGCTTATACTAAAAATTATTCATCATCTGAAATTAAATTTAACTGGGTGTCCTGTATTTATCTGGTGACCCTACCACAGGGAAAGTTTTACCTTTACCCTTTTGAAGGTGGGGCAGGATTTGAGAAGGGGACTTGGGGTGAAAGACCCCTTCATATTACCTTCTCAGCGCCAGACTGATGCCAGGAAGGCCAGACTCATGCCTGCGGTGCAGTGATTATTTGATGGGTCAGAAGACCCCTCAGTGCAGGACATAGAGAGCCCCCGTTCACCAGTTGTTAAGCTGCACCCCACAGCCTTTCCTAGCTTCGGGCTCCTAGTTCTGTGCCTTTCTGAGAAGATGTCAAGGGACAGCAGATACACAAGGCCCTTGGCCCAGTGCCTTTCAGCAGCCCTGGCACCGTGAGAACCCCTCCCCTCTTGGTCTGGTCCTTCAGAGCACACACAAGCTCCACCTTGGGCCCACGGAGGGGAGGGAGGCGCTGTAAACTGACACTTACGATGTCCCAGAGGAAGTTGGTCACCCAGTAGGTGGTGGGGCTCACTCCACTGATAAACTGGAGGTGCTTGGATTTGTTCACCCGCTCCTGGATCAAATAAAGGACAAAGCTGGCTGGGACGAAGGACATGGAGAAAATCACGCAGATGGCAACCACAGCATCCACTGAAGTGGTCAGCCTGCAGCAGGGCCAGAGACACAGGGAGAGGGCGATGAAGAGGGAAGAGCAGAAGGAGGAGAAGATACAAAGTCAGGCTTTGGGAAGGCCTTACACCCGCCCAGGTGTGGCCTCCAGGTTCCTCTTCTCTACCTTGAAGCTGTCACTCCACTAAACTGTCTTAATCCATATGGACCAAGGTTAAATGGGTATTTGCGGGTTGCCTTTCTATTTCATGTGAATATTTCTAGACAACCTTTCTTTTTATTATATTCTCTAATTATTTTTATGGTGTATAGAAATAGATGTTTATATTAATCTTATGTACTGCAATGCTCTCATTAGCTCTAATAATCTGTCTATAGAGTCTCTTGAATTTTCTATGTTGACAGACATACGGTCTGTGAGATTTATCTTTTGTTAATAATCATCTTGTTAAATCACATTTTCAAGAAGTACATCGTAACACAAGGAAATGTTCATGATGTAAATTTAAGTGAAAAGAGGGCAGGCAAGTTGTACAGGGACTTGGCTCTATTTATTCTTTCCTCGGACAAATAGAAGGCATCTGGCTGAGGGGTAAGTTGGGGCTAAAGCCAGCCTGAACTTTATGTACAAGCCATAACCCCTGGCATGGGACAGTGTCCACCTGCAGAAAAGAGCATTTTTACTAATTTCCACAAAGGTATCCTATGTGGTAGTCACTACCTTGATAAAACTACAGATCATATCATCCATACACGTAGTAAGCTTAGAACAAATGACTGGAAGGAGACACACGAAAGTGTGGCTGAGTGAGAATTAACAGAGGACAGTCTAGGGCCCTAGGGTGTCCAGAGGAAGACACCAAGGAGCCAAGGCCCAGGTTTTAGTGGATGACCCTGGGCATGTTCACTGGCACTCAGCGTGTGCTAGGATAGTAAAATCAGGACCCCACAACGTTGCTGAAGTTTGCACTAACAAAGGTGCTCCTACCAACCCCTCCTCCATGTAGGCCTCAAATAGAGTGAACATACTACAAAACGCACAAGGCCACTGTCTCCACTGGCTGAAACTGTGCAAGAAGAGCCTCAGCTTGAGGGTAGCAAAGCTCTGTCGACATCTCCAAAGTATGCTCTTCTGAGGAAATTCCTGGAATCTAAGATAATTACTCCGAGGGAGCTGAAAGGTTTACTGAACTTTGCCAGTTCCTGGCAGCTGCTTTGCACATAGCAAAGATAATAATTGTATAAGCTCCAGGAGCAACTTGCTATCAAAAGCCAAAAGGGAATGGAACCAAATGTAAACTTACTTGCCACATAAATGTTGGGGAGAAAGAATGACCAAGAGGTCTGGTATGTGAAGTGTGAGGCACTTATTTGAAAGTCGGATGTTCATATGTGCCTGACTAAACAGCATTACCATCCAAATCAGCACTTCGCGGTGGTGAGAATCCTCTCAGGATGTTCAAAGAGTGGAGAAGGTGACAAGAAAGTGGTGAGGCTGGGGCTGTGGTGGCTTACACTGTAATCTCTGAGAGCTGCTCCTTGGTCAGGTTCAGGGGTTGGCTAATGACGGTGATTCCATACTCCTCGGGGCTCCTGTCCTTAGGCAGGCTGGCCCGTAAGATGGCGTTGTGGGCCACATTGAGAAAGCTGACCAGGGCATGCCAGCCTTTGTTATTAAACCACACCTAGAGGGTGGAGAGGACATCTGAGACGCTGCACTAACAGCTAGTTAAAGCAGAAATCAGTGAAGGAAAGGAAATTTGAGAAGCAGGAAGGGTTTGGTAGCTGGAAGACATTCCTTGCTAGATTTCAGCAGGAGGAGGGATGGAATTTAATGAAGGTAGGAAAGTAAAAATAAAATAACCAGCTCAGGTAAATTTTTAGCTCCAGAGCAGATTATACATAGGTCAAGTAC
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GAGCTAGATCCTTTTTTCTGAAAGACATCACTGGGGCAATGGGCGAAAGAGGAGTGGGGTGTGAGGATTAGGTGGTGATGACACATCAGTGCTGGTTTCCTCATGTTGACAGTTTGTGTTGTGGTTGTATGGGGTGTATCCTCGTTTGTAGGAAGTATACATCGGACGTGCTGAGGGGTGTGAGAGAGAGAGACAGGAAGAGAGAAATAAATGAGAAGGGGCATCTTGCTGAGAAGTTACTTTCAAATGACTAAGAAAAAAAGGTTTCAACTGTACTTGTGACTTTTCCATAAGTCTGTAACTGTTGCAAAATTTTAAAGTAAAGAAAAATAGATGACACATATAAGAATTTAAAACATCATATATGTGCTAAGTGAATTACATAAGCAATAATTGTTTGTTCCTTCATTCAACTTTTTTTTTGCCACTGGCTAATGGTGGTCCTAAGTTCCAAAATGATGGATCGCGGAGGTGAGATTCCAGGCCAGCTTTAAAATTCTGGAGCATCAGAAAGCCTGCTAACATGATGCCTACCATCTTCTACCCCTTCATTGGACTGCCAGCTAGTATCACCTCCCACCTCAGATGTCCACTCTATCCTAGCTACATCTCTCTCCATAGGCTCAGAGATCCCTGTAAGCGCACACGCGCGTGCGTGCACACATACACACACACAGAAACACGTGGGCCAGCCCCAAGTGTGTAAATTCTATTTCTTATCTTTTAAAAAAAGTAAAATTAAAAGCCTCCGCACTTTTCTAAGTAACTTTTCGGTACCGGTGGGCCTAGCTCCTTTTATATTAGCATCACAGGGCCAATGTGGTACCTGCAGTTGATGCTCTTATCCAAAGAAAGGCTTTCAGGTTCTGACCTCCTCCCCGTGCATTTATGAGTGTTTCCTCGTGTAGACAGAAGAGAGAGGAAATAATTTAGTTGCTACTGATAATCTCTGGTTTTGTATTGTTAAGTGATAGCTGCTTACTAAGCTGAGTAAGATAGAAATCATATCTTCAGGAATTCCAATATTCACCATCATTTTAAAAAACCATGGATGAGAAGGTCATTTGTGTTGGTCTCCATCAGTTGGTATATCTTATCATCACATGAAATGGAGGCTCATGTTGGTCTTAAAATGTTGAGATTTTACTACTCAAGACACCTAGAATAAATTGGGGTTGATGTCATAATGATCCCTGTTACATTATAACTAGGCCTTTACTACCAATTCCTTTGACCCTGCAGCCTGTAATAGGGTACGCTATCCTGACCCCTCCCTACCCCCACCAACCTTGGTTGTCAGGAAGGTGGTAGTGTGCTATTGATTTAATAAATATTTTTTCTTCATTTTTCCCTGTAGCGGTGGTTAATCTAATAAGTGAAGGTCTTATTATTTTGGCCACTGGCTGGGGTTGCCAGATTTGGCAAATAAAAATCTAGGATGCCTAGTGAAATTTGAGTTTCAGATAAACAACCAGGTTTTTTTTTTTTTTTTTTTTTTTTTTAGTGTAGATATGTCCTGTGCAATATTTGAAGTAGCATATGCTTATACTAAAAATTATTCATCATCTGAAATTAAATTTAACTGGGTGTCCTGTATTTATCTGGTGACCCTACCACAGGGAAAGTTTTACCTTTACCCTTTTGAAGGTGGGGCAGGATTTGAGAAGGGGACTTGGGGTGAAAGACCCCTTCATATTACCTTCTCAGCGCCAGACTGATGCCAGGAAGGCCAGACTCATGCCTGCGGTGCAGTGATTATTTGATGGGTCAGAAGACCCCTCAGTGCAGGACATAGAGAGCCCCCGTTCACCAGTTGTTAAGCTGCACCCCACAGCCTTTCCTAGCTTCGGGCTCCTAGTTCTGTGCCTTTCTGAGAAGATGTCAAGGGACAGCAGATACACAAGGCCCTTGGCCCAGTGCCTTTCAGCAGCCCTGGCACCGTGAGAACCCCTCCCCTCTTGGTCTGGTCCTTCAGAGCACACACAAGCTCCACCTTGGGCCCACGGAGGGGAGGGAGGCGCTGTAAACTGACACTTACGATGTCCCAGGGGAAGTTGGTCACCCAGTAGGTGGTGGGGCTCACTCCACTGATAAACTGGAGGTGCTTGGATTTGTTCACCCGCTCCTGGATCAAATAAAGGACAAAGCTGGCTGGGACGAAGGACATGGAGAAAATCACGCAGATGGCAACCACAGCATCCACTGAAGTGGTCAGCCTGCAGCAGGGCCAGAGACACAGGGAGAGGGCGATGAAGAGGGAAGAGCAGAAGGAGGAGAAGATACAAAGTCAGGCTTTGGGAAGGCCTTACACCCGCCCAGGTGTGGCCTCCAGGTTCCTCTTCTCTACCTTGAAGCTGTCACTCCACTAAACTGTCTTAATCCATATGGACCAAGGTTAAATGGGTATTTGCGGGTTGCCTTTCTATTTCATGTGAATATTTCTAGACAACCTTTCTTTTTATTATATTCTCTAATTATTTTTATGGTGTATAGAAATAGATGTTTATATTAATCTTATGTACTGCAATGCTCTCATTAGCTCTAATAATCTGTCTATAGAGTCTCTTGAATTTTCTATGTTGACAGACATACGGTCTGTGAGATTTATCTTTTGTTAATAATCATCTTGTTAAATCACATTTTCAAGAAGTACATCGTAACACAAGGAAATGTTCATGATGTAAATTTAAGTGAAAAGAGGGCAGGCAAGTTGTACAGGGACTTGGCTCTATTTATTCTTTCCTCGGACAAATAGAAGGCATCTGGCTGAGGGGTAAGTTGGGGCTAAAGCCAGCCTGAACTTTATGTACAAGCCATAACCCCTGGCATGGGACAGTGTCCACCTGCAGAAAAGAGCATTTTTACTAATTTCCACAAAGGTATCCTATGTGGTAGTCACTACCTTGATAAAACTACAGATCATATCATCCATACACGTAGTAAGCTTAGAACAAATGACTGGAAGGAGACACACGAAAGTGTGGCTGAGTGAGAATTAACAGAGGACAGTCTAGGGCCCTAGGGTGTCCAGAGGAAGACACCAAGGAGCCAAGGCCCAGGTTTTAGTGGATGACCCTGGGCATGTTCACTGGCACTCAGCGTGTGCTAGGATAGTAAAATCAGGACCCCACAACGTTGCTGAAGTTTGCACTAACAAAGGTGCTCCTACCAACCCCTCCTCCATGTAGGCCTCAAATAGAGTGAACATACTACAAAACGCACAAGGCCACTGTCTCCACTGGCTGAAACTGTGCAAGAAGAGCCTCAGCTTGAGGGTAGCAAAGCTCTGTCGACATCTCCAAAGTATGCTCTTCTGAGGAAATTCCTGGAATCTAAGATAATTACTCCGAGGGAGCTGAAAGGTTTACTGAACTTTGCCAGTTCCTGGCAGCTGCTTTGCACATAGCAAAGATAATAATTGTATAAGCTCCAGGAGCAACTTGCTATCAAAAGCCAAAAGGGAATGGAACCAAATGTAAACTTACTTGCCACATAAATGTTGGGGAGAAAGAATGACCAAGAGGTCTGGTATGTGAAGTGTGAGGCACTTATTTGAAAGTCGGATGTTCATATGTGCCTGACTAAACAGCATTACCATCCAAATCAGCACTTCGCGGTGGTGAGAATCCTCTCAGGATGTTCAAAGAGTGGAGAAGGTGACAAGAAAGTGGTGAGGCTGGGGCTGTGGTGGCTTACACTGTAATCTCTGAGAGCTGCTCCTTGGTCAGGTTCAGGGGTTGGCTAATGACGGTGATTCCATACTCCTCGGGGCTCCTGTCCTTAGGCAGGCTGGCCCGTAAGATGGCGTTGTGGGCCACATTGAGAAAGCTGACCAGGGCATGCCAGCCTTTGTTATTAAACCACACCTAGAGGGTGGAGAGGACATCTGAGACGCTGCACTAACAGCTAGTTAAAGCAGAAATCAGTGAAGGAAAGGAAATTTGAGAAGCAGGAAGGGTTTGGTAGCTGGAAGACATTCCTTGCTAGATTTCAGCAGGAGGAGGGATGGAATTTAATGAAGGTAGGAAAGTAAAAATAAAATAACCAGCTCAGGTAAATTTTTAGCTCCAGAGCAGATTATACATAGGTCAAGTAC
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Task1_train_1155
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A variant found in Chromosome 1 affects ABCA4 (ATP binding cassette subfamily A member 4). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Retinitis pigmentosa
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GAGCTAGATCCTTTTTTCTGAAAGACATCACTGGGGCAATGGGCGAAAGAGGAGTGGGGTGTGAGGATTAGGTGGTGATGACACATCAGTGCTGGTTTCCTCATGTTGACAGTTTGTGTTGTGGTTGTATGGGGTGTATCCTCGTTTGTAGGAAGTATACATCGGACGTGCTGAGGGGTGTGAGAGAGAGAGACAGGAAGAGAGAAATAAATGAGAAGGGGCATCTTGCTGAGAAGTTACTTTCAAATGACTAAGAAAAAAAGGTTTCAACTGTACTTGTGACTTTTCCATAAGTCTGTAACTGTTGCAAAATTTTAAAGTAAAGAAAAATAGATGACACATATAAGAATTTAAAACATCATATATGTGCTAAGTGAATTACATAAGCAATAATTGTTTGTTCCTTCATTCAACTTTTTTTTTGCCACTGGCTAATGGTGGTCCTAAGTTCCAAAATGATGGATCGCGGAGGTGAGATTCCAGGCCAGCTTTAAAATTCTGGAGCATCAGAAAGCCTGCTAACATGATGCCTACCATCTTCTACCCCTTCATTGGACTGCCAGCTAGTATCACCTCCCACCTCAGATGTCCACTCTATCCTAGCTACATCTCTCTCCATAGGCTCAGAGATCCCTGTAAGCGCACACGCGCGTGCGTGCACACATACACACACACAGAAACACGTGGGCCAGCCCCAAGTGTGTAAATTCTATTTCTTATCTTTTAAAAAAAGTAAAATTAAAAGCCTCCGCACTTTTCTAAGTAACTTTTCGGTACCGGTGGGCCTAGCTCCTTTTATATTAGCATCACAGGGCCAATGTGGTACCTGCAGTTGATGCTCTTATCCAAAGAAAGGCTTTCAGGTTCTGACCTCCTCCCCGTGCATTTATGAGTGTTTCCTCGTGTAGACAGAAGAGAGAGGAAATAATTTAGTTGCTACTGATAATCTCTGGTTTTGTATTGTTAAGTGATAGCTGCTTACTAAGCTGAGTAAGATAGAAATCATATCTTCAGGAATTCCAATATTCACCATCATTTTAAAAAACCATGGATGAGAAGGTCATTTGTGTTGGTCTCCATCAGTTGGTATATCTTATCATCACATGAAATGGAGGCTCATGTTGGTCTTAAAATGTTGAGATTTTACTACTCAAGACACCTAGAATAAATTGGGGTTGATGTCATAATGATCCCTGTTACATTATAACTAGGCCTTTACTACCAATTCCTTTGACCCTGCAGCCTGTAATAGGGTACGCTATCCTGACCCCTCCCTACCCCCACCAACCTTGGTTGTCAGGAAGGTGGTAGTGTGCTATTGATTTAATAAATATTTTTTCTTCATTTTTCCCTGTAGCGGTGGTTAATCTAATAAGTGAAGGTCTTATTATTTTGGCCACTGGCTGGGGTTGCCAGATTTGGCAAATAAAAATCTAGGATGCCTAGTGAAATTTGAGTTTCAGATAAACAACCAGGTTTTTTTTTTTTTTTTTTTTTTTTTTAGTGTAGATATGTCCTGTGCAATATTTGAAGTAGCATATGCTTATACTAAAAATTATTCATCATCTGAAATTAAATTTAACTGGGTGTCCTGTATTTATCTGGTGACCCTACCACAGGGAAAGTTTTACCTTTACCCTTTTGAAGGTGGGGCAGGATTTGAGAAGGGGACTTGGGGTGAAAGACCCCTTCATATTACCTTCTCAGCGCCAGACTGATGCCAGGAAGGCCAGACTCATGCCTGCGGTGCAGTGATTATTTGATGGGTCAGAAGACCCCTCAGTGCAGGACATAGAGAGCCCCCGTTCACCAGTTGTTAAGCTGCACCCCACAGCCTTTCCTAGCTTCGGGCTCCTAGTTCTGTGCCTTTCTGAGAAGATGTCAAGGGACAGCAGATACACAAGGCCCTTGGCCCAGTGCCTTTCAGCAGCCCTGGCACCGTGAGAACCCCTCCCCTCTTGGTCTGGTCCTTCAGAGCACACACAAGCTCCACCTTGGGCCCACGGAGGGGAGGGAGGCGCTGTAAACTGACACTTACGATGTCCCAGAGGAAGTTGGTCACCCAGTAGGTGGTGGGGCTCACTCCACTGATAAACTGGAGGTGCTTGGATTTGTTCACCCGCTCCTGGATCAAATAAAGGACAAAGCTGGCTGGGACGAAGGACATGGAGAAAATCACGCAGATGGCAACCACAGCATCCACTGAAGTGGTCAGCCTGCAGCAGGGCCAGAGACACAGGGAGAGGGCGATGAAGAGGGAAGAGCAGAAGGAGGAGAAGATACAAAGTCAGGCTTTGGGAAGGCCTTACACCCGCCCAGGTGTGGCCTCCAGGTTCCTCTTCTCTACCTTGAAGCTGTCACTCCACTAAACTGTCTTAATCCATATGGACCAAGGTTAAATGGGTATTTGCGGGTTGCCTTTCTATTTCATGTGAATATTTCTAGACAACCTTTCTTTTTATTATATTCTCTAATTATTTTTATGGTGTATAGAAATAGATGTTTATATTAATCTTATGTACTGCAATGCTCTCATTAGCTCTAATAATCTGTCTATAGAGTCTCTTGAATTTTCTATGTTGACAGACATACGGTCTGTGAGATTTATCTTTTGTTAATAATCATCTTGTTAAATCACATTTTCAAGAAGTACATCGTAACACAAGGAAATGTTCATGATGTAAATTTAAGTGAAAAGAGGGCAGGCAAGTTGTACAGGGACTTGGCTCTATTTATTCTTTCCTCGGACAAATAGAAGGCATCTGGCTGAGGGGTAAGTTGGGGCTAAAGCCAGCCTGAACTTTATGTACAAGCCATAACCCCTGGCATGGGACAGTGTCCACCTGCAGAAAAGAGCATTTTTACTAATTTCCACAAAGGTATCCTATGTGGTAGTCACTACCTTGATAAAACTACAGATCATATCATCCATACACGTAGTAAGCTTAGAACAAATGACTGGAAGGAGACACACGAAAGTGTGGCTGAGTGAGAATTAACAGAGGACAGTCTAGGGCCCTAGGGTGTCCAGAGGAAGACACCAAGGAGCCAAGGCCCAGGTTTTAGTGGATGACCCTGGGCATGTTCACTGGCACTCAGCGTGTGCTAGGATAGTAAAATCAGGACCCCACAACGTTGCTGAAGTTTGCACTAACAAAGGTGCTCCTACCAACCCCTCCTCCATGTAGGCCTCAAATAGAGTGAACATACTACAAAACGCACAAGGCCACTGTCTCCACTGGCTGAAACTGTGCAAGAAGAGCCTCAGCTTGAGGGTAGCAAAGCTCTGTCGACATCTCCAAAGTATGCTCTTCTGAGGAAATTCCTGGAATCTAAGATAATTACTCCGAGGGAGCTGAAAGGTTTACTGAACTTTGCCAGTTCCTGGCAGCTGCTTTGCACATAGCAAAGATAATAATTGTATAAGCTCCAGGAGCAACTTGCTATCAAAAGCCAAAAGGGAATGGAACCAAATGTAAACTTACTTGCCACATAAATGTTGGGGAGAAAGAATGACCAAGAGGTCTGGTATGTGAAGTGTGAGGCACTTATTTGAAAGTCGGATGTTCATATGTGCCTGACTAAACAGCATTACCATCCAAATCAGCACTTCGCGGTGGTGAGAATCCTCTCAGGATGTTCAAAGAGTGGAGAAGGTGACAAGAAAGTGGTGAGGCTGGGGCTGTGGTGGCTTACACTGTAATCTCTGAGAGCTGCTCCTTGGTCAGGTTCAGGGGTTGGCTAATGACGGTGATTCCATACTCCTCGGGGCTCCTGTCCTTAGGCAGGCTGGCCCGTAAGATGGCGTTGTGGGCCACATTGAGAAAGCTGACCAGGGCATGCCAGCCTTTGTTATTAAACCACACCTAGAGGGTGGAGAGGACATCTGAGACGCTGCACTAACAGCTAGTTAAAGCAGAAATCAGTGAAGGAAAGGAAATTTGAGAAGCAGGAAGGGTTTGGTAGCTGGAAGACATTCCTTGCTAGATTTCAGCAGGAGGAGGGATGGAATTTAATGAAGGTAGGAAAGTAAAAATAAAATAACCAGCTCAGGTAAATTTTTAGCTCCAGAGCAGATTATACATAGGTCAAGTAC
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GAGCTAGATCCTTTTTTCTGAAAGACATCACTGGGGCAATGGGCGAAAGAGGAGTGGGGTGTGAGGATTAGGTGGTGATGACACATCAGTGCTGGTTTCCTCATGTTGACAGTTTGTGTTGTGGTTGTATGGGGTGTATCCTCGTTTGTAGGAAGTATACATCGGACGTGCTGAGGGGTGTGAGAGAGAGAGACAGGAAGAGAGAAATAAATGAGAAGGGGCATCTTGCTGAGAAGTTACTTTCAAATGACTAAGAAAAAAAGGTTTCAACTGTACTTGTGACTTTTCCATAAGTCTGTAACTGTTGCAAAATTTTAAAGTAAAGAAAAATAGATGACACATATAAGAATTTAAAACATCATATATGTGCTAAGTGAATTACATAAGCAATAATTGTTTGTTCCTTCATTCAACTTTTTTTTTGCCACTGGCTAATGGTGGTCCTAAGTTCCAAAATGATGGATCGCGGAGGTGAGATTCCAGGCCAGCTTTAAAATTCTGGAGCATCAGAAAGCCTGCTAACATGATGCCTACCATCTTCTACCCCTTCATTGGACTGCCAGCTAGTATCACCTCCCACCTCAGATGTCCACTCTATCCTAGCTACATCTCTCTCCATAGGCTCAGAGATCCCTGTAAGCGCACACGCGCGTGCGTGCACACATACACACACACAGAAACACGTGGGCCAGCCCCAAGTGTGTAAATTCTATTTCTTATCTTTTAAAAAAAGTAAAATTAAAAGCCTCCGCACTTTTCTAAGTAACTTTTCGGTACCGGTGGGCCTAGCTCCTTTTATATTAGCATCACAGGGCCAATGTGGTACCTGCAGTTGATGCTCTTATCCAAAGAAAGGCTTTCAGGTTCTGACCTCCTCCCCGTGCATTTATGAGTGTTTCCTCGTGTAGACAGAAGAGAGAGGAAATAATTTAGTTGCTACTGATAATCTCTGGTTTTGTATTGTTAAGTGATAGCTGCTTACTAAGCTGAGTAAGATAGAAATCATATCTTCAGGAATTCCAATATTCACCATCATTTTAAAAAACCATGGATGAGAAGGTCATTTGTGTTGGTCTCCATCAGTTGGTATATCTTATCATCACATGAAATGGAGGCTCATGTTGGTCTTAAAATGTTGAGATTTTACTACTCAAGACACCTAGAATAAATTGGGGTTGATGTCATAATGATCCCTGTTACATTATAACTAGGCCTTTACTACCAATTCCTTTGACCCTGCAGCCTGTAATAGGGTACGCTATCCTGACCCCTCCCTACCCCCACCAACCTTGGTTGTCAGGAAGGTGGTAGTGTGCTATTGATTTAATAAATATTTTTTCTTCATTTTTCCCTGTAGCGGTGGTTAATCTAATAAGTGAAGGTCTTATTATTTTGGCCACTGGCTGGGGTTGCCAGATTTGGCAAATAAAAATCTAGGATGCCTAGTGAAATTTGAGTTTCAGATAAACAACCAGGTTTTTTTTTTTTTTTTTTTTTTTTTTAGTGTAGATATGTCCTGTGCAATATTTGAAGTAGCATATGCTTATACTAAAAATTATTCATCATCTGAAATTAAATTTAACTGGGTGTCCTGTATTTATCTGGTGACCCTACCACAGGGAAAGTTTTACCTTTACCCTTTTGAAGGTGGGGCAGGATTTGAGAAGGGGACTTGGGGTGAAAGACCCCTTCATATTACCTTCTCAGCGCCAGACTGATGCCAGGAAGGCCAGACTCATGCCTGCGGTGCAGTGATTATTTGATGGGTCAGAAGACCCCTCAGTGCAGGACATAGAGAGCCCCCGTTCACCAGTTGTTAAGCTGCACCCCACAGCCTTTCCTAGCTTCGGGCTCCTAGTTCTGTGCCTTTCTGAGAAGATGTCAAGGGACAGCAGATACACAAGGCCCTTGGCCCAGTGCCTTTCAGCAGCCCTGGCACCGTGAGAACCCCTCCCCTCTTGGTCTGGTCCTTCAGAGCACACACAAGCTCCACCTTGGGCCCACGGAGGGGAGGGAGGCGCTGTAAACTGACACTTACGATGTCCCAGGGGAAGTTGGTCACCCAGTAGGTGGTGGGGCTCACTCCACTGATAAACTGGAGGTGCTTGGATTTGTTCACCCGCTCCTGGATCAAATAAAGGACAAAGCTGGCTGGGACGAAGGACATGGAGAAAATCACGCAGATGGCAACCACAGCATCCACTGAAGTGGTCAGCCTGCAGCAGGGCCAGAGACACAGGGAGAGGGCGATGAAGAGGGAAGAGCAGAAGGAGGAGAAGATACAAAGTCAGGCTTTGGGAAGGCCTTACACCCGCCCAGGTGTGGCCTCCAGGTTCCTCTTCTCTACCTTGAAGCTGTCACTCCACTAAACTGTCTTAATCCATATGGACCAAGGTTAAATGGGTATTTGCGGGTTGCCTTTCTATTTCATGTGAATATTTCTAGACAACCTTTCTTTTTATTATATTCTCTAATTATTTTTATGGTGTATAGAAATAGATGTTTATATTAATCTTATGTACTGCAATGCTCTCATTAGCTCTAATAATCTGTCTATAGAGTCTCTTGAATTTTCTATGTTGACAGACATACGGTCTGTGAGATTTATCTTTTGTTAATAATCATCTTGTTAAATCACATTTTCAAGAAGTACATCGTAACACAAGGAAATGTTCATGATGTAAATTTAAGTGAAAAGAGGGCAGGCAAGTTGTACAGGGACTTGGCTCTATTTATTCTTTCCTCGGACAAATAGAAGGCATCTGGCTGAGGGGTAAGTTGGGGCTAAAGCCAGCCTGAACTTTATGTACAAGCCATAACCCCTGGCATGGGACAGTGTCCACCTGCAGAAAAGAGCATTTTTACTAATTTCCACAAAGGTATCCTATGTGGTAGTCACTACCTTGATAAAACTACAGATCATATCATCCATACACGTAGTAAGCTTAGAACAAATGACTGGAAGGAGACACACGAAAGTGTGGCTGAGTGAGAATTAACAGAGGACAGTCTAGGGCCCTAGGGTGTCCAGAGGAAGACACCAAGGAGCCAAGGCCCAGGTTTTAGTGGATGACCCTGGGCATGTTCACTGGCACTCAGCGTGTGCTAGGATAGTAAAATCAGGACCCCACAACGTTGCTGAAGTTTGCACTAACAAAGGTGCTCCTACCAACCCCTCCTCCATGTAGGCCTCAAATAGAGTGAACATACTACAAAACGCACAAGGCCACTGTCTCCACTGGCTGAAACTGTGCAAGAAGAGCCTCAGCTTGAGGGTAGCAAAGCTCTGTCGACATCTCCAAAGTATGCTCTTCTGAGGAAATTCCTGGAATCTAAGATAATTACTCCGAGGGAGCTGAAAGGTTTACTGAACTTTGCCAGTTCCTGGCAGCTGCTTTGCACATAGCAAAGATAATAATTGTATAAGCTCCAGGAGCAACTTGCTATCAAAAGCCAAAAGGGAATGGAACCAAATGTAAACTTACTTGCCACATAAATGTTGGGGAGAAAGAATGACCAAGAGGTCTGGTATGTGAAGTGTGAGGCACTTATTTGAAAGTCGGATGTTCATATGTGCCTGACTAAACAGCATTACCATCCAAATCAGCACTTCGCGGTGGTGAGAATCCTCTCAGGATGTTCAAAGAGTGGAGAAGGTGACAAGAAAGTGGTGAGGCTGGGGCTGTGGTGGCTTACACTGTAATCTCTGAGAGCTGCTCCTTGGTCAGGTTCAGGGGTTGGCTAATGACGGTGATTCCATACTCCTCGGGGCTCCTGTCCTTAGGCAGGCTGGCCCGTAAGATGGCGTTGTGGGCCACATTGAGAAAGCTGACCAGGGCATGCCAGCCTTTGTTATTAAACCACACCTAGAGGGTGGAGAGGACATCTGAGACGCTGCACTAACAGCTAGTTAAAGCAGAAATCAGTGAAGGAAAGGAAATTTGAGAAGCAGGAAGGGTTTGGTAGCTGGAAGACATTCCTTGCTAGATTTCAGCAGGAGGAGGGATGGAATTTAATGAAGGTAGGAAAGTAAAAATAAAATAACCAGCTCAGGTAAATTTTTAGCTCCAGAGCAGATTATACATAGGTCAAGTAC
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Task1_train_1156
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This alteration in ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Age related macular degeneration 2
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GAGCTAGATCCTTTTTTCTGAAAGACATCACTGGGGCAATGGGCGAAAGAGGAGTGGGGTGTGAGGATTAGGTGGTGATGACACATCAGTGCTGGTTTCCTCATGTTGACAGTTTGTGTTGTGGTTGTATGGGGTGTATCCTCGTTTGTAGGAAGTATACATCGGACGTGCTGAGGGGTGTGAGAGAGAGAGACAGGAAGAGAGAAATAAATGAGAAGGGGCATCTTGCTGAGAAGTTACTTTCAAATGACTAAGAAAAAAAGGTTTCAACTGTACTTGTGACTTTTCCATAAGTCTGTAACTGTTGCAAAATTTTAAAGTAAAGAAAAATAGATGACACATATAAGAATTTAAAACATCATATATGTGCTAAGTGAATTACATAAGCAATAATTGTTTGTTCCTTCATTCAACTTTTTTTTTGCCACTGGCTAATGGTGGTCCTAAGTTCCAAAATGATGGATCGCGGAGGTGAGATTCCAGGCCAGCTTTAAAATTCTGGAGCATCAGAAAGCCTGCTAACATGATGCCTACCATCTTCTACCCCTTCATTGGACTGCCAGCTAGTATCACCTCCCACCTCAGATGTCCACTCTATCCTAGCTACATCTCTCTCCATAGGCTCAGAGATCCCTGTAAGCGCACACGCGCGTGCGTGCACACATACACACACACAGAAACACGTGGGCCAGCCCCAAGTGTGTAAATTCTATTTCTTATCTTTTAAAAAAAGTAAAATTAAAAGCCTCCGCACTTTTCTAAGTAACTTTTCGGTACCGGTGGGCCTAGCTCCTTTTATATTAGCATCACAGGGCCAATGTGGTACCTGCAGTTGATGCTCTTATCCAAAGAAAGGCTTTCAGGTTCTGACCTCCTCCCCGTGCATTTATGAGTGTTTCCTCGTGTAGACAGAAGAGAGAGGAAATAATTTAGTTGCTACTGATAATCTCTGGTTTTGTATTGTTAAGTGATAGCTGCTTACTAAGCTGAGTAAGATAGAAATCATATCTTCAGGAATTCCAATATTCACCATCATTTTAAAAAACCATGGATGAGAAGGTCATTTGTGTTGGTCTCCATCAGTTGGTATATCTTATCATCACATGAAATGGAGGCTCATGTTGGTCTTAAAATGTTGAGATTTTACTACTCAAGACACCTAGAATAAATTGGGGTTGATGTCATAATGATCCCTGTTACATTATAACTAGGCCTTTACTACCAATTCCTTTGACCCTGCAGCCTGTAATAGGGTACGCTATCCTGACCCCTCCCTACCCCCACCAACCTTGGTTGTCAGGAAGGTGGTAGTGTGCTATTGATTTAATAAATATTTTTTCTTCATTTTTCCCTGTAGCGGTGGTTAATCTAATAAGTGAAGGTCTTATTATTTTGGCCACTGGCTGGGGTTGCCAGATTTGGCAAATAAAAATCTAGGATGCCTAGTGAAATTTGAGTTTCAGATAAACAACCAGGTTTTTTTTTTTTTTTTTTTTTTTTTTAGTGTAGATATGTCCTGTGCAATATTTGAAGTAGCATATGCTTATACTAAAAATTATTCATCATCTGAAATTAAATTTAACTGGGTGTCCTGTATTTATCTGGTGACCCTACCACAGGGAAAGTTTTACCTTTACCCTTTTGAAGGTGGGGCAGGATTTGAGAAGGGGACTTGGGGTGAAAGACCCCTTCATATTACCTTCTCAGCGCCAGACTGATGCCAGGAAGGCCAGACTCATGCCTGCGGTGCAGTGATTATTTGATGGGTCAGAAGACCCCTCAGTGCAGGACATAGAGAGCCCCCGTTCACCAGTTGTTAAGCTGCACCCCACAGCCTTTCCTAGCTTCGGGCTCCTAGTTCTGTGCCTTTCTGAGAAGATGTCAAGGGACAGCAGATACACAAGGCCCTTGGCCCAGTGCCTTTCAGCAGCCCTGGCACCGTGAGAACCCCTCCCCTCTTGGTCTGGTCCTTCAGAGCACACACAAGCTCCACCTTGGGCCCACGGAGGGGAGGGAGGCGCTGTAAACTGACACTTACGATGTCCCAGAGGAAGTTGGTCACCCAGTAGGTGGTGGGGCTCACTCCACTGATAAACTGGAGGTGCTTGGATTTGTTCACCCGCTCCTGGATCAAATAAAGGACAAAGCTGGCTGGGACGAAGGACATGGAGAAAATCACGCAGATGGCAACCACAGCATCCACTGAAGTGGTCAGCCTGCAGCAGGGCCAGAGACACAGGGAGAGGGCGATGAAGAGGGAAGAGCAGAAGGAGGAGAAGATACAAAGTCAGGCTTTGGGAAGGCCTTACACCCGCCCAGGTGTGGCCTCCAGGTTCCTCTTCTCTACCTTGAAGCTGTCACTCCACTAAACTGTCTTAATCCATATGGACCAAGGTTAAATGGGTATTTGCGGGTTGCCTTTCTATTTCATGTGAATATTTCTAGACAACCTTTCTTTTTATTATATTCTCTAATTATTTTTATGGTGTATAGAAATAGATGTTTATATTAATCTTATGTACTGCAATGCTCTCATTAGCTCTAATAATCTGTCTATAGAGTCTCTTGAATTTTCTATGTTGACAGACATACGGTCTGTGAGATTTATCTTTTGTTAATAATCATCTTGTTAAATCACATTTTCAAGAAGTACATCGTAACACAAGGAAATGTTCATGATGTAAATTTAAGTGAAAAGAGGGCAGGCAAGTTGTACAGGGACTTGGCTCTATTTATTCTTTCCTCGGACAAATAGAAGGCATCTGGCTGAGGGGTAAGTTGGGGCTAAAGCCAGCCTGAACTTTATGTACAAGCCATAACCCCTGGCATGGGACAGTGTCCACCTGCAGAAAAGAGCATTTTTACTAATTTCCACAAAGGTATCCTATGTGGTAGTCACTACCTTGATAAAACTACAGATCATATCATCCATACACGTAGTAAGCTTAGAACAAATGACTGGAAGGAGACACACGAAAGTGTGGCTGAGTGAGAATTAACAGAGGACAGTCTAGGGCCCTAGGGTGTCCAGAGGAAGACACCAAGGAGCCAAGGCCCAGGTTTTAGTGGATGACCCTGGGCATGTTCACTGGCACTCAGCGTGTGCTAGGATAGTAAAATCAGGACCCCACAACGTTGCTGAAGTTTGCACTAACAAAGGTGCTCCTACCAACCCCTCCTCCATGTAGGCCTCAAATAGAGTGAACATACTACAAAACGCACAAGGCCACTGTCTCCACTGGCTGAAACTGTGCAAGAAGAGCCTCAGCTTGAGGGTAGCAAAGCTCTGTCGACATCTCCAAAGTATGCTCTTCTGAGGAAATTCCTGGAATCTAAGATAATTACTCCGAGGGAGCTGAAAGGTTTACTGAACTTTGCCAGTTCCTGGCAGCTGCTTTGCACATAGCAAAGATAATAATTGTATAAGCTCCAGGAGCAACTTGCTATCAAAAGCCAAAAGGGAATGGAACCAAATGTAAACTTACTTGCCACATAAATGTTGGGGAGAAAGAATGACCAAGAGGTCTGGTATGTGAAGTGTGAGGCACTTATTTGAAAGTCGGATGTTCATATGTGCCTGACTAAACAGCATTACCATCCAAATCAGCACTTCGCGGTGGTGAGAATCCTCTCAGGATGTTCAAAGAGTGGAGAAGGTGACAAGAAAGTGGTGAGGCTGGGGCTGTGGTGGCTTACACTGTAATCTCTGAGAGCTGCTCCTTGGTCAGGTTCAGGGGTTGGCTAATGACGGTGATTCCATACTCCTCGGGGCTCCTGTCCTTAGGCAGGCTGGCCCGTAAGATGGCGTTGTGGGCCACATTGAGAAAGCTGACCAGGGCATGCCAGCCTTTGTTATTAAACCACACCTAGAGGGTGGAGAGGACATCTGAGACGCTGCACTAACAGCTAGTTAAAGCAGAAATCAGTGAAGGAAAGGAAATTTGAGAAGCAGGAAGGGTTTGGTAGCTGGAAGACATTCCTTGCTAGATTTCAGCAGGAGGAGGGATGGAATTTAATGAAGGTAGGAAAGTAAAAATAAAATAACCAGCTCAGGTAAATTTTTAGCTCCAGAGCAGATTATACATAGGTCAAGTAC
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GAGCTAGATCCTTTTTTCTGAAAGACATCACTGGGGCAATGGGCGAAAGAGGAGTGGGGTGTGAGGATTAGGTGGTGATGACACATCAGTGCTGGTTTCCTCATGTTGACAGTTTGTGTTGTGGTTGTATGGGGTGTATCCTCGTTTGTAGGAAGTATACATCGGACGTGCTGAGGGGTGTGAGAGAGAGAGACAGGAAGAGAGAAATAAATGAGAAGGGGCATCTTGCTGAGAAGTTACTTTCAAATGACTAAGAAAAAAAGGTTTCAACTGTACTTGTGACTTTTCCATAAGTCTGTAACTGTTGCAAAATTTTAAAGTAAAGAAAAATAGATGACACATATAAGAATTTAAAACATCATATATGTGCTAAGTGAATTACATAAGCAATAATTGTTTGTTCCTTCATTCAACTTTTTTTTTGCCACTGGCTAATGGTGGTCCTAAGTTCCAAAATGATGGATCGCGGAGGTGAGATTCCAGGCCAGCTTTAAAATTCTGGAGCATCAGAAAGCCTGCTAACATGATGCCTACCATCTTCTACCCCTTCATTGGACTGCCAGCTAGTATCACCTCCCACCTCAGATGTCCACTCTATCCTAGCTACATCTCTCTCCATAGGCTCAGAGATCCCTGTAAGCGCACACGCGCGTGCGTGCACACATACACACACACAGAAACACGTGGGCCAGCCCCAAGTGTGTAAATTCTATTTCTTATCTTTTAAAAAAAGTAAAATTAAAAGCCTCCGCACTTTTCTAAGTAACTTTTCGGTACCGGTGGGCCTAGCTCCTTTTATATTAGCATCACAGGGCCAATGTGGTACCTGCAGTTGATGCTCTTATCCAAAGAAAGGCTTTCAGGTTCTGACCTCCTCCCCGTGCATTTATGAGTGTTTCCTCGTGTAGACAGAAGAGAGAGGAAATAATTTAGTTGCTACTGATAATCTCTGGTTTTGTATTGTTAAGTGATAGCTGCTTACTAAGCTGAGTAAGATAGAAATCATATCTTCAGGAATTCCAATATTCACCATCATTTTAAAAAACCATGGATGAGAAGGTCATTTGTGTTGGTCTCCATCAGTTGGTATATCTTATCATCACATGAAATGGAGGCTCATGTTGGTCTTAAAATGTTGAGATTTTACTACTCAAGACACCTAGAATAAATTGGGGTTGATGTCATAATGATCCCTGTTACATTATAACTAGGCCTTTACTACCAATTCCTTTGACCCTGCAGCCTGTAATAGGGTACGCTATCCTGACCCCTCCCTACCCCCACCAACCTTGGTTGTCAGGAAGGTGGTAGTGTGCTATTGATTTAATAAATATTTTTTCTTCATTTTTCCCTGTAGCGGTGGTTAATCTAATAAGTGAAGGTCTTATTATTTTGGCCACTGGCTGGGGTTGCCAGATTTGGCAAATAAAAATCTAGGATGCCTAGTGAAATTTGAGTTTCAGATAAACAACCAGGTTTTTTTTTTTTTTTTTTTTTTTTTTAGTGTAGATATGTCCTGTGCAATATTTGAAGTAGCATATGCTTATACTAAAAATTATTCATCATCTGAAATTAAATTTAACTGGGTGTCCTGTATTTATCTGGTGACCCTACCACAGGGAAAGTTTTACCTTTACCCTTTTGAAGGTGGGGCAGGATTTGAGAAGGGGACTTGGGGTGAAAGACCCCTTCATATTACCTTCTCAGCGCCAGACTGATGCCAGGAAGGCCAGACTCATGCCTGCGGTGCAGTGATTATTTGATGGGTCAGAAGACCCCTCAGTGCAGGACATAGAGAGCCCCCGTTCACCAGTTGTTAAGCTGCACCCCACAGCCTTTCCTAGCTTCGGGCTCCTAGTTCTGTGCCTTTCTGAGAAGATGTCAAGGGACAGCAGATACACAAGGCCCTTGGCCCAGTGCCTTTCAGCAGCCCTGGCACCGTGAGAACCCCTCCCCTCTTGGTCTGGTCCTTCAGAGCACACACAAGCTCCACCTTGGGCCCACGGAGGGGAGGGAGGCGCTGTAAACTGACACTTACGATGTCCCAGGGGAAGTTGGTCACCCAGTAGGTGGTGGGGCTCACTCCACTGATAAACTGGAGGTGCTTGGATTTGTTCACCCGCTCCTGGATCAAATAAAGGACAAAGCTGGCTGGGACGAAGGACATGGAGAAAATCACGCAGATGGCAACCACAGCATCCACTGAAGTGGTCAGCCTGCAGCAGGGCCAGAGACACAGGGAGAGGGCGATGAAGAGGGAAGAGCAGAAGGAGGAGAAGATACAAAGTCAGGCTTTGGGAAGGCCTTACACCCGCCCAGGTGTGGCCTCCAGGTTCCTCTTCTCTACCTTGAAGCTGTCACTCCACTAAACTGTCTTAATCCATATGGACCAAGGTTAAATGGGTATTTGCGGGTTGCCTTTCTATTTCATGTGAATATTTCTAGACAACCTTTCTTTTTATTATATTCTCTAATTATTTTTATGGTGTATAGAAATAGATGTTTATATTAATCTTATGTACTGCAATGCTCTCATTAGCTCTAATAATCTGTCTATAGAGTCTCTTGAATTTTCTATGTTGACAGACATACGGTCTGTGAGATTTATCTTTTGTTAATAATCATCTTGTTAAATCACATTTTCAAGAAGTACATCGTAACACAAGGAAATGTTCATGATGTAAATTTAAGTGAAAAGAGGGCAGGCAAGTTGTACAGGGACTTGGCTCTATTTATTCTTTCCTCGGACAAATAGAAGGCATCTGGCTGAGGGGTAAGTTGGGGCTAAAGCCAGCCTGAACTTTATGTACAAGCCATAACCCCTGGCATGGGACAGTGTCCACCTGCAGAAAAGAGCATTTTTACTAATTTCCACAAAGGTATCCTATGTGGTAGTCACTACCTTGATAAAACTACAGATCATATCATCCATACACGTAGTAAGCTTAGAACAAATGACTGGAAGGAGACACACGAAAGTGTGGCTGAGTGAGAATTAACAGAGGACAGTCTAGGGCCCTAGGGTGTCCAGAGGAAGACACCAAGGAGCCAAGGCCCAGGTTTTAGTGGATGACCCTGGGCATGTTCACTGGCACTCAGCGTGTGCTAGGATAGTAAAATCAGGACCCCACAACGTTGCTGAAGTTTGCACTAACAAAGGTGCTCCTACCAACCCCTCCTCCATGTAGGCCTCAAATAGAGTGAACATACTACAAAACGCACAAGGCCACTGTCTCCACTGGCTGAAACTGTGCAAGAAGAGCCTCAGCTTGAGGGTAGCAAAGCTCTGTCGACATCTCCAAAGTATGCTCTTCTGAGGAAATTCCTGGAATCTAAGATAATTACTCCGAGGGAGCTGAAAGGTTTACTGAACTTTGCCAGTTCCTGGCAGCTGCTTTGCACATAGCAAAGATAATAATTGTATAAGCTCCAGGAGCAACTTGCTATCAAAAGCCAAAAGGGAATGGAACCAAATGTAAACTTACTTGCCACATAAATGTTGGGGAGAAAGAATGACCAAGAGGTCTGGTATGTGAAGTGTGAGGCACTTATTTGAAAGTCGGATGTTCATATGTGCCTGACTAAACAGCATTACCATCCAAATCAGCACTTCGCGGTGGTGAGAATCCTCTCAGGATGTTCAAAGAGTGGAGAAGGTGACAAGAAAGTGGTGAGGCTGGGGCTGTGGTGGCTTACACTGTAATCTCTGAGAGCTGCTCCTTGGTCAGGTTCAGGGGTTGGCTAATGACGGTGATTCCATACTCCTCGGGGCTCCTGTCCTTAGGCAGGCTGGCCCGTAAGATGGCGTTGTGGGCCACATTGAGAAAGCTGACCAGGGCATGCCAGCCTTTGTTATTAAACCACACCTAGAGGGTGGAGAGGACATCTGAGACGCTGCACTAACAGCTAGTTAAAGCAGAAATCAGTGAAGGAAAGGAAATTTGAGAAGCAGGAAGGGTTTGGTAGCTGGAAGACATTCCTTGCTAGATTTCAGCAGGAGGAGGGATGGAATTTAATGAAGGTAGGAAAGTAAAAATAAAATAACCAGCTCAGGTAAATTTTTAGCTCCAGAGCAGATTATACATAGGTCAAGTAC
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Task1_train_1157
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The gene ABCA4 (ATP binding cassette subfamily A member 4) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Cone-rod dystrophy 3
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GAGCTAGATCCTTTTTTCTGAAAGACATCACTGGGGCAATGGGCGAAAGAGGAGTGGGGTGTGAGGATTAGGTGGTGATGACACATCAGTGCTGGTTTCCTCATGTTGACAGTTTGTGTTGTGGTTGTATGGGGTGTATCCTCGTTTGTAGGAAGTATACATCGGACGTGCTGAGGGGTGTGAGAGAGAGAGACAGGAAGAGAGAAATAAATGAGAAGGGGCATCTTGCTGAGAAGTTACTTTCAAATGACTAAGAAAAAAAGGTTTCAACTGTACTTGTGACTTTTCCATAAGTCTGTAACTGTTGCAAAATTTTAAAGTAAAGAAAAATAGATGACACATATAAGAATTTAAAACATCATATATGTGCTAAGTGAATTACATAAGCAATAATTGTTTGTTCCTTCATTCAACTTTTTTTTTGCCACTGGCTAATGGTGGTCCTAAGTTCCAAAATGATGGATCGCGGAGGTGAGATTCCAGGCCAGCTTTAAAATTCTGGAGCATCAGAAAGCCTGCTAACATGATGCCTACCATCTTCTACCCCTTCATTGGACTGCCAGCTAGTATCACCTCCCACCTCAGATGTCCACTCTATCCTAGCTACATCTCTCTCCATAGGCTCAGAGATCCCTGTAAGCGCACACGCGCGTGCGTGCACACATACACACACACAGAAACACGTGGGCCAGCCCCAAGTGTGTAAATTCTATTTCTTATCTTTTAAAAAAAGTAAAATTAAAAGCCTCCGCACTTTTCTAAGTAACTTTTCGGTACCGGTGGGCCTAGCTCCTTTTATATTAGCATCACAGGGCCAATGTGGTACCTGCAGTTGATGCTCTTATCCAAAGAAAGGCTTTCAGGTTCTGACCTCCTCCCCGTGCATTTATGAGTGTTTCCTCGTGTAGACAGAAGAGAGAGGAAATAATTTAGTTGCTACTGATAATCTCTGGTTTTGTATTGTTAAGTGATAGCTGCTTACTAAGCTGAGTAAGATAGAAATCATATCTTCAGGAATTCCAATATTCACCATCATTTTAAAAAACCATGGATGAGAAGGTCATTTGTGTTGGTCTCCATCAGTTGGTATATCTTATCATCACATGAAATGGAGGCTCATGTTGGTCTTAAAATGTTGAGATTTTACTACTCAAGACACCTAGAATAAATTGGGGTTGATGTCATAATGATCCCTGTTACATTATAACTAGGCCTTTACTACCAATTCCTTTGACCCTGCAGCCTGTAATAGGGTACGCTATCCTGACCCCTCCCTACCCCCACCAACCTTGGTTGTCAGGAAGGTGGTAGTGTGCTATTGATTTAATAAATATTTTTTCTTCATTTTTCCCTGTAGCGGTGGTTAATCTAATAAGTGAAGGTCTTATTATTTTGGCCACTGGCTGGGGTTGCCAGATTTGGCAAATAAAAATCTAGGATGCCTAGTGAAATTTGAGTTTCAGATAAACAACCAGGTTTTTTTTTTTTTTTTTTTTTTTTTTAGTGTAGATATGTCCTGTGCAATATTTGAAGTAGCATATGCTTATACTAAAAATTATTCATCATCTGAAATTAAATTTAACTGGGTGTCCTGTATTTATCTGGTGACCCTACCACAGGGAAAGTTTTACCTTTACCCTTTTGAAGGTGGGGCAGGATTTGAGAAGGGGACTTGGGGTGAAAGACCCCTTCATATTACCTTCTCAGCGCCAGACTGATGCCAGGAAGGCCAGACTCATGCCTGCGGTGCAGTGATTATTTGATGGGTCAGAAGACCCCTCAGTGCAGGACATAGAGAGCCCCCGTTCACCAGTTGTTAAGCTGCACCCCACAGCCTTTCCTAGCTTCGGGCTCCTAGTTCTGTGCCTTTCTGAGAAGATGTCAAGGGACAGCAGATACACAAGGCCCTTGGCCCAGTGCCTTTCAGCAGCCCTGGCACCGTGAGAACCCCTCCCCTCTTGGTCTGGTCCTTCAGAGCACACACAAGCTCCACCTTGGGCCCACGGAGGGGAGGGAGGCGCTGTAAACTGACACTTACGATGTCCCAGAGGAAGTTGGTCACCCAGTAGGTGGTGGGGCTCACTCCACTGATAAACTGGAGGTGCTTGGATTTGTTCACCCGCTCCTGGATCAAATAAAGGACAAAGCTGGCTGGGACGAAGGACATGGAGAAAATCACGCAGATGGCAACCACAGCATCCACTGAAGTGGTCAGCCTGCAGCAGGGCCAGAGACACAGGGAGAGGGCGATGAAGAGGGAAGAGCAGAAGGAGGAGAAGATACAAAGTCAGGCTTTGGGAAGGCCTTACACCCGCCCAGGTGTGGCCTCCAGGTTCCTCTTCTCTACCTTGAAGCTGTCACTCCACTAAACTGTCTTAATCCATATGGACCAAGGTTAAATGGGTATTTGCGGGTTGCCTTTCTATTTCATGTGAATATTTCTAGACAACCTTTCTTTTTATTATATTCTCTAATTATTTTTATGGTGTATAGAAATAGATGTTTATATTAATCTTATGTACTGCAATGCTCTCATTAGCTCTAATAATCTGTCTATAGAGTCTCTTGAATTTTCTATGTTGACAGACATACGGTCTGTGAGATTTATCTTTTGTTAATAATCATCTTGTTAAATCACATTTTCAAGAAGTACATCGTAACACAAGGAAATGTTCATGATGTAAATTTAAGTGAAAAGAGGGCAGGCAAGTTGTACAGGGACTTGGCTCTATTTATTCTTTCCTCGGACAAATAGAAGGCATCTGGCTGAGGGGTAAGTTGGGGCTAAAGCCAGCCTGAACTTTATGTACAAGCCATAACCCCTGGCATGGGACAGTGTCCACCTGCAGAAAAGAGCATTTTTACTAATTTCCACAAAGGTATCCTATGTGGTAGTCACTACCTTGATAAAACTACAGATCATATCATCCATACACGTAGTAAGCTTAGAACAAATGACTGGAAGGAGACACACGAAAGTGTGGCTGAGTGAGAATTAACAGAGGACAGTCTAGGGCCCTAGGGTGTCCAGAGGAAGACACCAAGGAGCCAAGGCCCAGGTTTTAGTGGATGACCCTGGGCATGTTCACTGGCACTCAGCGTGTGCTAGGATAGTAAAATCAGGACCCCACAACGTTGCTGAAGTTTGCACTAACAAAGGTGCTCCTACCAACCCCTCCTCCATGTAGGCCTCAAATAGAGTGAACATACTACAAAACGCACAAGGCCACTGTCTCCACTGGCTGAAACTGTGCAAGAAGAGCCTCAGCTTGAGGGTAGCAAAGCTCTGTCGACATCTCCAAAGTATGCTCTTCTGAGGAAATTCCTGGAATCTAAGATAATTACTCCGAGGGAGCTGAAAGGTTTACTGAACTTTGCCAGTTCCTGGCAGCTGCTTTGCACATAGCAAAGATAATAATTGTATAAGCTCCAGGAGCAACTTGCTATCAAAAGCCAAAAGGGAATGGAACCAAATGTAAACTTACTTGCCACATAAATGTTGGGGAGAAAGAATGACCAAGAGGTCTGGTATGTGAAGTGTGAGGCACTTATTTGAAAGTCGGATGTTCATATGTGCCTGACTAAACAGCATTACCATCCAAATCAGCACTTCGCGGTGGTGAGAATCCTCTCAGGATGTTCAAAGAGTGGAGAAGGTGACAAGAAAGTGGTGAGGCTGGGGCTGTGGTGGCTTACACTGTAATCTCTGAGAGCTGCTCCTTGGTCAGGTTCAGGGGTTGGCTAATGACGGTGATTCCATACTCCTCGGGGCTCCTGTCCTTAGGCAGGCTGGCCCGTAAGATGGCGTTGTGGGCCACATTGAGAAAGCTGACCAGGGCATGCCAGCCTTTGTTATTAAACCACACCTAGAGGGTGGAGAGGACATCTGAGACGCTGCACTAACAGCTAGTTAAAGCAGAAATCAGTGAAGGAAAGGAAATTTGAGAAGCAGGAAGGGTTTGGTAGCTGGAAGACATTCCTTGCTAGATTTCAGCAGGAGGAGGGATGGAATTTAATGAAGGTAGGAAAGTAAAAATAAAATAACCAGCTCAGGTAAATTTTTAGCTCCAGAGCAGATTATACATAGGTCAAGTAC
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GAGCTAGATCCTTTTTTCTGAAAGACATCACTGGGGCAATGGGCGAAAGAGGAGTGGGGTGTGAGGATTAGGTGGTGATGACACATCAGTGCTGGTTTCCTCATGTTGACAGTTTGTGTTGTGGTTGTATGGGGTGTATCCTCGTTTGTAGGAAGTATACATCGGACGTGCTGAGGGGTGTGAGAGAGAGAGACAGGAAGAGAGAAATAAATGAGAAGGGGCATCTTGCTGAGAAGTTACTTTCAAATGACTAAGAAAAAAAGGTTTCAACTGTACTTGTGACTTTTCCATAAGTCTGTAACTGTTGCAAAATTTTAAAGTAAAGAAAAATAGATGACACATATAAGAATTTAAAACATCATATATGTGCTAAGTGAATTACATAAGCAATAATTGTTTGTTCCTTCATTCAACTTTTTTTTTGCCACTGGCTAATGGTGGTCCTAAGTTCCAAAATGATGGATCGCGGAGGTGAGATTCCAGGCCAGCTTTAAAATTCTGGAGCATCAGAAAGCCTGCTAACATGATGCCTACCATCTTCTACCCCTTCATTGGACTGCCAGCTAGTATCACCTCCCACCTCAGATGTCCACTCTATCCTAGCTACATCTCTCTCCATAGGCTCAGAGATCCCTGTAAGCGCACACGCGCGTGCGTGCACACATACACACACACAGAAACACGTGGGCCAGCCCCAAGTGTGTAAATTCTATTTCTTATCTTTTAAAAAAAGTAAAATTAAAAGCCTCCGCACTTTTCTAAGTAACTTTTCGGTACCGGTGGGCCTAGCTCCTTTTATATTAGCATCACAGGGCCAATGTGGTACCTGCAGTTGATGCTCTTATCCAAAGAAAGGCTTTCAGGTTCTGACCTCCTCCCCGTGCATTTATGAGTGTTTCCTCGTGTAGACAGAAGAGAGAGGAAATAATTTAGTTGCTACTGATAATCTCTGGTTTTGTATTGTTAAGTGATAGCTGCTTACTAAGCTGAGTAAGATAGAAATCATATCTTCAGGAATTCCAATATTCACCATCATTTTAAAAAACCATGGATGAGAAGGTCATTTGTGTTGGTCTCCATCAGTTGGTATATCTTATCATCACATGAAATGGAGGCTCATGTTGGTCTTAAAATGTTGAGATTTTACTACTCAAGACACCTAGAATAAATTGGGGTTGATGTCATAATGATCCCTGTTACATTATAACTAGGCCTTTACTACCAATTCCTTTGACCCTGCAGCCTGTAATAGGGTACGCTATCCTGACCCCTCCCTACCCCCACCAACCTTGGTTGTCAGGAAGGTGGTAGTGTGCTATTGATTTAATAAATATTTTTTCTTCATTTTTCCCTGTAGCGGTGGTTAATCTAATAAGTGAAGGTCTTATTATTTTGGCCACTGGCTGGGGTTGCCAGATTTGGCAAATAAAAATCTAGGATGCCTAGTGAAATTTGAGTTTCAGATAAACAACCAGGTTTTTTTTTTTTTTTTTTTTTTTTTTAGTGTAGATATGTCCTGTGCAATATTTGAAGTAGCATATGCTTATACTAAAAATTATTCATCATCTGAAATTAAATTTAACTGGGTGTCCTGTATTTATCTGGTGACCCTACCACAGGGAAAGTTTTACCTTTACCCTTTTGAAGGTGGGGCAGGATTTGAGAAGGGGACTTGGGGTGAAAGACCCCTTCATATTACCTTCTCAGCGCCAGACTGATGCCAGGAAGGCCAGACTCATGCCTGCGGTGCAGTGATTATTTGATGGGTCAGAAGACCCCTCAGTGCAGGACATAGAGAGCCCCCGTTCACCAGTTGTTAAGCTGCACCCCACAGCCTTTCCTAGCTTCGGGCTCCTAGTTCTGTGCCTTTCTGAGAAGATGTCAAGGGACAGCAGATACACAAGGCCCTTGGCCCAGTGCCTTTCAGCAGCCCTGGCACCGTGAGAACCCCTCCCCTCTTGGTCTGGTCCTTCAGAGCACACACAAGCTCCACCTTGGGCCCACGGAGGGGAGGGAGGCGCTGTAAACTGACACTTACGATGTCCCAGGGGAAGTTGGTCACCCAGTAGGTGGTGGGGCTCACTCCACTGATAAACTGGAGGTGCTTGGATTTGTTCACCCGCTCCTGGATCAAATAAAGGACAAAGCTGGCTGGGACGAAGGACATGGAGAAAATCACGCAGATGGCAACCACAGCATCCACTGAAGTGGTCAGCCTGCAGCAGGGCCAGAGACACAGGGAGAGGGCGATGAAGAGGGAAGAGCAGAAGGAGGAGAAGATACAAAGTCAGGCTTTGGGAAGGCCTTACACCCGCCCAGGTGTGGCCTCCAGGTTCCTCTTCTCTACCTTGAAGCTGTCACTCCACTAAACTGTCTTAATCCATATGGACCAAGGTTAAATGGGTATTTGCGGGTTGCCTTTCTATTTCATGTGAATATTTCTAGACAACCTTTCTTTTTATTATATTCTCTAATTATTTTTATGGTGTATAGAAATAGATGTTTATATTAATCTTATGTACTGCAATGCTCTCATTAGCTCTAATAATCTGTCTATAGAGTCTCTTGAATTTTCTATGTTGACAGACATACGGTCTGTGAGATTTATCTTTTGTTAATAATCATCTTGTTAAATCACATTTTCAAGAAGTACATCGTAACACAAGGAAATGTTCATGATGTAAATTTAAGTGAAAAGAGGGCAGGCAAGTTGTACAGGGACTTGGCTCTATTTATTCTTTCCTCGGACAAATAGAAGGCATCTGGCTGAGGGGTAAGTTGGGGCTAAAGCCAGCCTGAACTTTATGTACAAGCCATAACCCCTGGCATGGGACAGTGTCCACCTGCAGAAAAGAGCATTTTTACTAATTTCCACAAAGGTATCCTATGTGGTAGTCACTACCTTGATAAAACTACAGATCATATCATCCATACACGTAGTAAGCTTAGAACAAATGACTGGAAGGAGACACACGAAAGTGTGGCTGAGTGAGAATTAACAGAGGACAGTCTAGGGCCCTAGGGTGTCCAGAGGAAGACACCAAGGAGCCAAGGCCCAGGTTTTAGTGGATGACCCTGGGCATGTTCACTGGCACTCAGCGTGTGCTAGGATAGTAAAATCAGGACCCCACAACGTTGCTGAAGTTTGCACTAACAAAGGTGCTCCTACCAACCCCTCCTCCATGTAGGCCTCAAATAGAGTGAACATACTACAAAACGCACAAGGCCACTGTCTCCACTGGCTGAAACTGTGCAAGAAGAGCCTCAGCTTGAGGGTAGCAAAGCTCTGTCGACATCTCCAAAGTATGCTCTTCTGAGGAAATTCCTGGAATCTAAGATAATTACTCCGAGGGAGCTGAAAGGTTTACTGAACTTTGCCAGTTCCTGGCAGCTGCTTTGCACATAGCAAAGATAATAATTGTATAAGCTCCAGGAGCAACTTGCTATCAAAAGCCAAAAGGGAATGGAACCAAATGTAAACTTACTTGCCACATAAATGTTGGGGAGAAAGAATGACCAAGAGGTCTGGTATGTGAAGTGTGAGGCACTTATTTGAAAGTCGGATGTTCATATGTGCCTGACTAAACAGCATTACCATCCAAATCAGCACTTCGCGGTGGTGAGAATCCTCTCAGGATGTTCAAAGAGTGGAGAAGGTGACAAGAAAGTGGTGAGGCTGGGGCTGTGGTGGCTTACACTGTAATCTCTGAGAGCTGCTCCTTGGTCAGGTTCAGGGGTTGGCTAATGACGGTGATTCCATACTCCTCGGGGCTCCTGTCCTTAGGCAGGCTGGCCCGTAAGATGGCGTTGTGGGCCACATTGAGAAAGCTGACCAGGGCATGCCAGCCTTTGTTATTAAACCACACCTAGAGGGTGGAGAGGACATCTGAGACGCTGCACTAACAGCTAGTTAAAGCAGAAATCAGTGAAGGAAAGGAAATTTGAGAAGCAGGAAGGGTTTGGTAGCTGGAAGACATTCCTTGCTAGATTTCAGCAGGAGGAGGGATGGAATTTAATGAAGGTAGGAAAGTAAAAATAAAATAACCAGCTCAGGTAAATTTTTAGCTCCAGAGCAGATTATACATAGGTCAAGTAC
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Task1_train_1158
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A variant was discovered in gene ABCA4 (ATP binding cassette subfamily A member 4), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Severe early-childhood-onset retinal dystrophy
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GAGCTAGATCCTTTTTTCTGAAAGACATCACTGGGGCAATGGGCGAAAGAGGAGTGGGGTGTGAGGATTAGGTGGTGATGACACATCAGTGCTGGTTTCCTCATGTTGACAGTTTGTGTTGTGGTTGTATGGGGTGTATCCTCGTTTGTAGGAAGTATACATCGGACGTGCTGAGGGGTGTGAGAGAGAGAGACAGGAAGAGAGAAATAAATGAGAAGGGGCATCTTGCTGAGAAGTTACTTTCAAATGACTAAGAAAAAAAGGTTTCAACTGTACTTGTGACTTTTCCATAAGTCTGTAACTGTTGCAAAATTTTAAAGTAAAGAAAAATAGATGACACATATAAGAATTTAAAACATCATATATGTGCTAAGTGAATTACATAAGCAATAATTGTTTGTTCCTTCATTCAACTTTTTTTTTGCCACTGGCTAATGGTGGTCCTAAGTTCCAAAATGATGGATCGCGGAGGTGAGATTCCAGGCCAGCTTTAAAATTCTGGAGCATCAGAAAGCCTGCTAACATGATGCCTACCATCTTCTACCCCTTCATTGGACTGCCAGCTAGTATCACCTCCCACCTCAGATGTCCACTCTATCCTAGCTACATCTCTCTCCATAGGCTCAGAGATCCCTGTAAGCGCACACGCGCGTGCGTGCACACATACACACACACAGAAACACGTGGGCCAGCCCCAAGTGTGTAAATTCTATTTCTTATCTTTTAAAAAAAGTAAAATTAAAAGCCTCCGCACTTTTCTAAGTAACTTTTCGGTACCGGTGGGCCTAGCTCCTTTTATATTAGCATCACAGGGCCAATGTGGTACCTGCAGTTGATGCTCTTATCCAAAGAAAGGCTTTCAGGTTCTGACCTCCTCCCCGTGCATTTATGAGTGTTTCCTCGTGTAGACAGAAGAGAGAGGAAATAATTTAGTTGCTACTGATAATCTCTGGTTTTGTATTGTTAAGTGATAGCTGCTTACTAAGCTGAGTAAGATAGAAATCATATCTTCAGGAATTCCAATATTCACCATCATTTTAAAAAACCATGGATGAGAAGGTCATTTGTGTTGGTCTCCATCAGTTGGTATATCTTATCATCACATGAAATGGAGGCTCATGTTGGTCTTAAAATGTTGAGATTTTACTACTCAAGACACCTAGAATAAATTGGGGTTGATGTCATAATGATCCCTGTTACATTATAACTAGGCCTTTACTACCAATTCCTTTGACCCTGCAGCCTGTAATAGGGTACGCTATCCTGACCCCTCCCTACCCCCACCAACCTTGGTTGTCAGGAAGGTGGTAGTGTGCTATTGATTTAATAAATATTTTTTCTTCATTTTTCCCTGTAGCGGTGGTTAATCTAATAAGTGAAGGTCTTATTATTTTGGCCACTGGCTGGGGTTGCCAGATTTGGCAAATAAAAATCTAGGATGCCTAGTGAAATTTGAGTTTCAGATAAACAACCAGGTTTTTTTTTTTTTTTTTTTTTTTTTTAGTGTAGATATGTCCTGTGCAATATTTGAAGTAGCATATGCTTATACTAAAAATTATTCATCATCTGAAATTAAATTTAACTGGGTGTCCTGTATTTATCTGGTGACCCTACCACAGGGAAAGTTTTACCTTTACCCTTTTGAAGGTGGGGCAGGATTTGAGAAGGGGACTTGGGGTGAAAGACCCCTTCATATTACCTTCTCAGCGCCAGACTGATGCCAGGAAGGCCAGACTCATGCCTGCGGTGCAGTGATTATTTGATGGGTCAGAAGACCCCTCAGTGCAGGACATAGAGAGCCCCCGTTCACCAGTTGTTAAGCTGCACCCCACAGCCTTTCCTAGCTTCGGGCTCCTAGTTCTGTGCCTTTCTGAGAAGATGTCAAGGGACAGCAGATACACAAGGCCCTTGGCCCAGTGCCTTTCAGCAGCCCTGGCACCGTGAGAACCCCTCCCCTCTTGGTCTGGTCCTTCAGAGCACACACAAGCTCCACCTTGGGCCCACGGAGGGGAGGGAGGCGCTGTAAACTGACACTTACGATGTCCCAGAGGAAGTTGGTCACCCAGTAGGTGGTGGGGCTCACTCCACTGATAAACTGGAGGTGCTTGGATTTGTTCACCCGCTCCTGGATCAAATAAAGGACAAAGCTGGCTGGGACGAAGGACATGGAGAAAATCACGCAGATGGCAACCACAGCATCCACTGAAGTGGTCAGCCTGCAGCAGGGCCAGAGACACAGGGAGAGGGCGATGAAGAGGGAAGAGCAGAAGGAGGAGAAGATACAAAGTCAGGCTTTGGGAAGGCCTTACACCCGCCCAGGTGTGGCCTCCAGGTTCCTCTTCTCTACCTTGAAGCTGTCACTCCACTAAACTGTCTTAATCCATATGGACCAAGGTTAAATGGGTATTTGCGGGTTGCCTTTCTATTTCATGTGAATATTTCTAGACAACCTTTCTTTTTATTATATTCTCTAATTATTTTTATGGTGTATAGAAATAGATGTTTATATTAATCTTATGTACTGCAATGCTCTCATTAGCTCTAATAATCTGTCTATAGAGTCTCTTGAATTTTCTATGTTGACAGACATACGGTCTGTGAGATTTATCTTTTGTTAATAATCATCTTGTTAAATCACATTTTCAAGAAGTACATCGTAACACAAGGAAATGTTCATGATGTAAATTTAAGTGAAAAGAGGGCAGGCAAGTTGTACAGGGACTTGGCTCTATTTATTCTTTCCTCGGACAAATAGAAGGCATCTGGCTGAGGGGTAAGTTGGGGCTAAAGCCAGCCTGAACTTTATGTACAAGCCATAACCCCTGGCATGGGACAGTGTCCACCTGCAGAAAAGAGCATTTTTACTAATTTCCACAAAGGTATCCTATGTGGTAGTCACTACCTTGATAAAACTACAGATCATATCATCCATACACGTAGTAAGCTTAGAACAAATGACTGGAAGGAGACACACGAAAGTGTGGCTGAGTGAGAATTAACAGAGGACAGTCTAGGGCCCTAGGGTGTCCAGAGGAAGACACCAAGGAGCCAAGGCCCAGGTTTTAGTGGATGACCCTGGGCATGTTCACTGGCACTCAGCGTGTGCTAGGATAGTAAAATCAGGACCCCACAACGTTGCTGAAGTTTGCACTAACAAAGGTGCTCCTACCAACCCCTCCTCCATGTAGGCCTCAAATAGAGTGAACATACTACAAAACGCACAAGGCCACTGTCTCCACTGGCTGAAACTGTGCAAGAAGAGCCTCAGCTTGAGGGTAGCAAAGCTCTGTCGACATCTCCAAAGTATGCTCTTCTGAGGAAATTCCTGGAATCTAAGATAATTACTCCGAGGGAGCTGAAAGGTTTACTGAACTTTGCCAGTTCCTGGCAGCTGCTTTGCACATAGCAAAGATAATAATTGTATAAGCTCCAGGAGCAACTTGCTATCAAAAGCCAAAAGGGAATGGAACCAAATGTAAACTTACTTGCCACATAAATGTTGGGGAGAAAGAATGACCAAGAGGTCTGGTATGTGAAGTGTGAGGCACTTATTTGAAAGTCGGATGTTCATATGTGCCTGACTAAACAGCATTACCATCCAAATCAGCACTTCGCGGTGGTGAGAATCCTCTCAGGATGTTCAAAGAGTGGAGAAGGTGACAAGAAAGTGGTGAGGCTGGGGCTGTGGTGGCTTACACTGTAATCTCTGAGAGCTGCTCCTTGGTCAGGTTCAGGGGTTGGCTAATGACGGTGATTCCATACTCCTCGGGGCTCCTGTCCTTAGGCAGGCTGGCCCGTAAGATGGCGTTGTGGGCCACATTGAGAAAGCTGACCAGGGCATGCCAGCCTTTGTTATTAAACCACACCTAGAGGGTGGAGAGGACATCTGAGACGCTGCACTAACAGCTAGTTAAAGCAGAAATCAGTGAAGGAAAGGAAATTTGAGAAGCAGGAAGGGTTTGGTAGCTGGAAGACATTCCTTGCTAGATTTCAGCAGGAGGAGGGATGGAATTTAATGAAGGTAGGAAAGTAAAAATAAAATAACCAGCTCAGGTAAATTTTTAGCTCCAGAGCAGATTATACATAGGTCAAGTAC
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GAGCTAGATCCTTTTTTCTGAAAGACATCACTGGGGCAATGGGCGAAAGAGGAGTGGGGTGTGAGGATTAGGTGGTGATGACACATCAGTGCTGGTTTCCTCATGTTGACAGTTTGTGTTGTGGTTGTATGGGGTGTATCCTCGTTTGTAGGAAGTATACATCGGACGTGCTGAGGGGTGTGAGAGAGAGAGACAGGAAGAGAGAAATAAATGAGAAGGGGCATCTTGCTGAGAAGTTACTTTCAAATGACTAAGAAAAAAAGGTTTCAACTGTACTTGTGACTTTTCCATAAGTCTGTAACTGTTGCAAAATTTTAAAGTAAAGAAAAATAGATGACACATATAAGAATTTAAAACATCATATATGTGCTAAGTGAATTACATAAGCAATAATTGTTTGTTCCTTCATTCAACTTTTTTTTTGCCACTGGCTAATGGTGGTCCTAAGTTCCAAAATGATGGATCGCGGAGGTGAGATTCCAGGCCAGCTTTAAAATTCTGGAGCATCAGAAAGCCTGCTAACATGATGCCTACCATCTTCTACCCCTTCATTGGACTGCCAGCTAGTATCACCTCCCACCTCAGATGTCCACTCTATCCTAGCTACATCTCTCTCCATAGGCTCAGAGATCCCTGTAAGCGCACACGCGCGTGCGTGCACACATACACACACACAGAAACACGTGGGCCAGCCCCAAGTGTGTAAATTCTATTTCTTATCTTTTAAAAAAAGTAAAATTAAAAGCCTCCGCACTTTTCTAAGTAACTTTTCGGTACCGGTGGGCCTAGCTCCTTTTATATTAGCATCACAGGGCCAATGTGGTACCTGCAGTTGATGCTCTTATCCAAAGAAAGGCTTTCAGGTTCTGACCTCCTCCCCGTGCATTTATGAGTGTTTCCTCGTGTAGACAGAAGAGAGAGGAAATAATTTAGTTGCTACTGATAATCTCTGGTTTTGTATTGTTAAGTGATAGCTGCTTACTAAGCTGAGTAAGATAGAAATCATATCTTCAGGAATTCCAATATTCACCATCATTTTAAAAAACCATGGATGAGAAGGTCATTTGTGTTGGTCTCCATCAGTTGGTATATCTTATCATCACATGAAATGGAGGCTCATGTTGGTCTTAAAATGTTGAGATTTTACTACTCAAGACACCTAGAATAAATTGGGGTTGATGTCATAATGATCCCTGTTACATTATAACTAGGCCTTTACTACCAATTCCTTTGACCCTGCAGCCTGTAATAGGGTACGCTATCCTGACCCCTCCCTACCCCCACCAACCTTGGTTGTCAGGAAGGTGGTAGTGTGCTATTGATTTAATAAATATTTTTTCTTCATTTTTCCCTGTAGCGGTGGTTAATCTAATAAGTGAAGGTCTTATTATTTTGGCCACTGGCTGGGGTTGCCAGATTTGGCAAATAAAAATCTAGGATGCCTAGTGAAATTTGAGTTTCAGATAAACAACCAGGTTTTTTTTTTTTTTTTTTTTTTTTTTAGTGTAGATATGTCCTGTGCAATATTTGAAGTAGCATATGCTTATACTAAAAATTATTCATCATCTGAAATTAAATTTAACTGGGTGTCCTGTATTTATCTGGTGACCCTACCACAGGGAAAGTTTTACCTTTACCCTTTTGAAGGTGGGGCAGGATTTGAGAAGGGGACTTGGGGTGAAAGACCCCTTCATATTACCTTCTCAGCGCCAGACTGATGCCAGGAAGGCCAGACTCATGCCTGCGGTGCAGTGATTATTTGATGGGTCAGAAGACCCCTCAGTGCAGGACATAGAGAGCCCCCGTTCACCAGTTGTTAAGCTGCACCCCACAGCCTTTCCTAGCTTCGGGCTCCTAGTTCTGTGCCTTTCTGAGAAGATGTCAAGGGACAGCAGATACACAAGGCCCTTGGCCCAGTGCCTTTCAGCAGCCCTGGCACCGTGAGAACCCCTCCCCTCTTGGTCTGGTCCTTCAGAGCACACACAAGCTCCACCTTGGGCCCACGGAGGGGAGGGAGGCGCTGTAAACTGACACTTACGATGTCCCAGGGGAAGTTGGTCACCCAGTAGGTGGTGGGGCTCACTCCACTGATAAACTGGAGGTGCTTGGATTTGTTCACCCGCTCCTGGATCAAATAAAGGACAAAGCTGGCTGGGACGAAGGACATGGAGAAAATCACGCAGATGGCAACCACAGCATCCACTGAAGTGGTCAGCCTGCAGCAGGGCCAGAGACACAGGGAGAGGGCGATGAAGAGGGAAGAGCAGAAGGAGGAGAAGATACAAAGTCAGGCTTTGGGAAGGCCTTACACCCGCCCAGGTGTGGCCTCCAGGTTCCTCTTCTCTACCTTGAAGCTGTCACTCCACTAAACTGTCTTAATCCATATGGACCAAGGTTAAATGGGTATTTGCGGGTTGCCTTTCTATTTCATGTGAATATTTCTAGACAACCTTTCTTTTTATTATATTCTCTAATTATTTTTATGGTGTATAGAAATAGATGTTTATATTAATCTTATGTACTGCAATGCTCTCATTAGCTCTAATAATCTGTCTATAGAGTCTCTTGAATTTTCTATGTTGACAGACATACGGTCTGTGAGATTTATCTTTTGTTAATAATCATCTTGTTAAATCACATTTTCAAGAAGTACATCGTAACACAAGGAAATGTTCATGATGTAAATTTAAGTGAAAAGAGGGCAGGCAAGTTGTACAGGGACTTGGCTCTATTTATTCTTTCCTCGGACAAATAGAAGGCATCTGGCTGAGGGGTAAGTTGGGGCTAAAGCCAGCCTGAACTTTATGTACAAGCCATAACCCCTGGCATGGGACAGTGTCCACCTGCAGAAAAGAGCATTTTTACTAATTTCCACAAAGGTATCCTATGTGGTAGTCACTACCTTGATAAAACTACAGATCATATCATCCATACACGTAGTAAGCTTAGAACAAATGACTGGAAGGAGACACACGAAAGTGTGGCTGAGTGAGAATTAACAGAGGACAGTCTAGGGCCCTAGGGTGTCCAGAGGAAGACACCAAGGAGCCAAGGCCCAGGTTTTAGTGGATGACCCTGGGCATGTTCACTGGCACTCAGCGTGTGCTAGGATAGTAAAATCAGGACCCCACAACGTTGCTGAAGTTTGCACTAACAAAGGTGCTCCTACCAACCCCTCCTCCATGTAGGCCTCAAATAGAGTGAACATACTACAAAACGCACAAGGCCACTGTCTCCACTGGCTGAAACTGTGCAAGAAGAGCCTCAGCTTGAGGGTAGCAAAGCTCTGTCGACATCTCCAAAGTATGCTCTTCTGAGGAAATTCCTGGAATCTAAGATAATTACTCCGAGGGAGCTGAAAGGTTTACTGAACTTTGCCAGTTCCTGGCAGCTGCTTTGCACATAGCAAAGATAATAATTGTATAAGCTCCAGGAGCAACTTGCTATCAAAAGCCAAAAGGGAATGGAACCAAATGTAAACTTACTTGCCACATAAATGTTGGGGAGAAAGAATGACCAAGAGGTCTGGTATGTGAAGTGTGAGGCACTTATTTGAAAGTCGGATGTTCATATGTGCCTGACTAAACAGCATTACCATCCAAATCAGCACTTCGCGGTGGTGAGAATCCTCTCAGGATGTTCAAAGAGTGGAGAAGGTGACAAGAAAGTGGTGAGGCTGGGGCTGTGGTGGCTTACACTGTAATCTCTGAGAGCTGCTCCTTGGTCAGGTTCAGGGGTTGGCTAATGACGGTGATTCCATACTCCTCGGGGCTCCTGTCCTTAGGCAGGCTGGCCCGTAAGATGGCGTTGTGGGCCACATTGAGAAAGCTGACCAGGGCATGCCAGCCTTTGTTATTAAACCACACCTAGAGGGTGGAGAGGACATCTGAGACGCTGCACTAACAGCTAGTTAAAGCAGAAATCAGTGAAGGAAAGGAAATTTGAGAAGCAGGAAGGGTTTGGTAGCTGGAAGACATTCCTTGCTAGATTTCAGCAGGAGGAGGGATGGAATTTAATGAAGGTAGGAAAGTAAAAATAAAATAACCAGCTCAGGTAAATTTTTAGCTCCAGAGCAGATTATACATAGGTCAAGTAC
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Task1_train_1159
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A variant was discovered in gene ABCA4 (ATP binding cassette subfamily A member 4), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Retinitis pigmentosa 19
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GAGCTAGATCCTTTTTTCTGAAAGACATCACTGGGGCAATGGGCGAAAGAGGAGTGGGGTGTGAGGATTAGGTGGTGATGACACATCAGTGCTGGTTTCCTCATGTTGACAGTTTGTGTTGTGGTTGTATGGGGTGTATCCTCGTTTGTAGGAAGTATACATCGGACGTGCTGAGGGGTGTGAGAGAGAGAGACAGGAAGAGAGAAATAAATGAGAAGGGGCATCTTGCTGAGAAGTTACTTTCAAATGACTAAGAAAAAAAGGTTTCAACTGTACTTGTGACTTTTCCATAAGTCTGTAACTGTTGCAAAATTTTAAAGTAAAGAAAAATAGATGACACATATAAGAATTTAAAACATCATATATGTGCTAAGTGAATTACATAAGCAATAATTGTTTGTTCCTTCATTCAACTTTTTTTTTGCCACTGGCTAATGGTGGTCCTAAGTTCCAAAATGATGGATCGCGGAGGTGAGATTCCAGGCCAGCTTTAAAATTCTGGAGCATCAGAAAGCCTGCTAACATGATGCCTACCATCTTCTACCCCTTCATTGGACTGCCAGCTAGTATCACCTCCCACCTCAGATGTCCACTCTATCCTAGCTACATCTCTCTCCATAGGCTCAGAGATCCCTGTAAGCGCACACGCGCGTGCGTGCACACATACACACACACAGAAACACGTGGGCCAGCCCCAAGTGTGTAAATTCTATTTCTTATCTTTTAAAAAAAGTAAAATTAAAAGCCTCCGCACTTTTCTAAGTAACTTTTCGGTACCGGTGGGCCTAGCTCCTTTTATATTAGCATCACAGGGCCAATGTGGTACCTGCAGTTGATGCTCTTATCCAAAGAAAGGCTTTCAGGTTCTGACCTCCTCCCCGTGCATTTATGAGTGTTTCCTCGTGTAGACAGAAGAGAGAGGAAATAATTTAGTTGCTACTGATAATCTCTGGTTTTGTATTGTTAAGTGATAGCTGCTTACTAAGCTGAGTAAGATAGAAATCATATCTTCAGGAATTCCAATATTCACCATCATTTTAAAAAACCATGGATGAGAAGGTCATTTGTGTTGGTCTCCATCAGTTGGTATATCTTATCATCACATGAAATGGAGGCTCATGTTGGTCTTAAAATGTTGAGATTTTACTACTCAAGACACCTAGAATAAATTGGGGTTGATGTCATAATGATCCCTGTTACATTATAACTAGGCCTTTACTACCAATTCCTTTGACCCTGCAGCCTGTAATAGGGTACGCTATCCTGACCCCTCCCTACCCCCACCAACCTTGGTTGTCAGGAAGGTGGTAGTGTGCTATTGATTTAATAAATATTTTTTCTTCATTTTTCCCTGTAGCGGTGGTTAATCTAATAAGTGAAGGTCTTATTATTTTGGCCACTGGCTGGGGTTGCCAGATTTGGCAAATAAAAATCTAGGATGCCTAGTGAAATTTGAGTTTCAGATAAACAACCAGGTTTTTTTTTTTTTTTTTTTTTTTTTTAGTGTAGATATGTCCTGTGCAATATTTGAAGTAGCATATGCTTATACTAAAAATTATTCATCATCTGAAATTAAATTTAACTGGGTGTCCTGTATTTATCTGGTGACCCTACCACAGGGAAAGTTTTACCTTTACCCTTTTGAAGGTGGGGCAGGATTTGAGAAGGGGACTTGGGGTGAAAGACCCCTTCATATTACCTTCTCAGCGCCAGACTGATGCCAGGAAGGCCAGACTCATGCCTGCGGTGCAGTGATTATTTGATGGGTCAGAAGACCCCTCAGTGCAGGACATAGAGAGCCCCCGTTCACCAGTTGTTAAGCTGCACCCCACAGCCTTTCCTAGCTTCGGGCTCCTAGTTCTGTGCCTTTCTGAGAAGATGTCAAGGGACAGCAGATACACAAGGCCCTTGGCCCAGTGCCTTTCAGCAGCCCTGGCACCGTGAGAACCCCTCCCCTCTTGGTCTGGTCCTTCAGAGCACACACAAGCTCCACCTTGGGCCCACGGAGGGGAGGGAGGCGCTGTAAACTGACACTTACGATGTCCCAGAGGAAGTTGGTCACCCAGTAGGTGGTGGGGCTCACTCCACTGATAAACTGGAGGTGCTTGGATTTGTTCACCCGCTCCTGGATCAAATAAAGGACAAAGCTGGCTGGGACGAAGGACATGGAGAAAATCACGCAGATGGCAACCACAGCATCCACTGAAGTGGTCAGCCTGCAGCAGGGCCAGAGACACAGGGAGAGGGCGATGAAGAGGGAAGAGCAGAAGGAGGAGAAGATACAAAGTCAGGCTTTGGGAAGGCCTTACACCCGCCCAGGTGTGGCCTCCAGGTTCCTCTTCTCTACCTTGAAGCTGTCACTCCACTAAACTGTCTTAATCCATATGGACCAAGGTTAAATGGGTATTTGCGGGTTGCCTTTCTATTTCATGTGAATATTTCTAGACAACCTTTCTTTTTATTATATTCTCTAATTATTTTTATGGTGTATAGAAATAGATGTTTATATTAATCTTATGTACTGCAATGCTCTCATTAGCTCTAATAATCTGTCTATAGAGTCTCTTGAATTTTCTATGTTGACAGACATACGGTCTGTGAGATTTATCTTTTGTTAATAATCATCTTGTTAAATCACATTTTCAAGAAGTACATCGTAACACAAGGAAATGTTCATGATGTAAATTTAAGTGAAAAGAGGGCAGGCAAGTTGTACAGGGACTTGGCTCTATTTATTCTTTCCTCGGACAAATAGAAGGCATCTGGCTGAGGGGTAAGTTGGGGCTAAAGCCAGCCTGAACTTTATGTACAAGCCATAACCCCTGGCATGGGACAGTGTCCACCTGCAGAAAAGAGCATTTTTACTAATTTCCACAAAGGTATCCTATGTGGTAGTCACTACCTTGATAAAACTACAGATCATATCATCCATACACGTAGTAAGCTTAGAACAAATGACTGGAAGGAGACACACGAAAGTGTGGCTGAGTGAGAATTAACAGAGGACAGTCTAGGGCCCTAGGGTGTCCAGAGGAAGACACCAAGGAGCCAAGGCCCAGGTTTTAGTGGATGACCCTGGGCATGTTCACTGGCACTCAGCGTGTGCTAGGATAGTAAAATCAGGACCCCACAACGTTGCTGAAGTTTGCACTAACAAAGGTGCTCCTACCAACCCCTCCTCCATGTAGGCCTCAAATAGAGTGAACATACTACAAAACGCACAAGGCCACTGTCTCCACTGGCTGAAACTGTGCAAGAAGAGCCTCAGCTTGAGGGTAGCAAAGCTCTGTCGACATCTCCAAAGTATGCTCTTCTGAGGAAATTCCTGGAATCTAAGATAATTACTCCGAGGGAGCTGAAAGGTTTACTGAACTTTGCCAGTTCCTGGCAGCTGCTTTGCACATAGCAAAGATAATAATTGTATAAGCTCCAGGAGCAACTTGCTATCAAAAGCCAAAAGGGAATGGAACCAAATGTAAACTTACTTGCCACATAAATGTTGGGGAGAAAGAATGACCAAGAGGTCTGGTATGTGAAGTGTGAGGCACTTATTTGAAAGTCGGATGTTCATATGTGCCTGACTAAACAGCATTACCATCCAAATCAGCACTTCGCGGTGGTGAGAATCCTCTCAGGATGTTCAAAGAGTGGAGAAGGTGACAAGAAAGTGGTGAGGCTGGGGCTGTGGTGGCTTACACTGTAATCTCTGAGAGCTGCTCCTTGGTCAGGTTCAGGGGTTGGCTAATGACGGTGATTCCATACTCCTCGGGGCTCCTGTCCTTAGGCAGGCTGGCCCGTAAGATGGCGTTGTGGGCCACATTGAGAAAGCTGACCAGGGCATGCCAGCCTTTGTTATTAAACCACACCTAGAGGGTGGAGAGGACATCTGAGACGCTGCACTAACAGCTAGTTAAAGCAGAAATCAGTGAAGGAAAGGAAATTTGAGAAGCAGGAAGGGTTTGGTAGCTGGAAGACATTCCTTGCTAGATTTCAGCAGGAGGAGGGATGGAATTTAATGAAGGTAGGAAAGTAAAAATAAAATAACCAGCTCAGGTAAATTTTTAGCTCCAGAGCAGATTATACATAGGTCAAGTAC
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GAGCTAGATCCTTTTTTCTGAAAGACATCACTGGGGCAATGGGCGAAAGAGGAGTGGGGTGTGAGGATTAGGTGGTGATGACACATCAGTGCTGGTTTCCTCATGTTGACAGTTTGTGTTGTGGTTGTATGGGGTGTATCCTCGTTTGTAGGAAGTATACATCGGACGTGCTGAGGGGTGTGAGAGAGAGAGACAGGAAGAGAGAAATAAATGAGAAGGGGCATCTTGCTGAGAAGTTACTTTCAAATGACTAAGAAAAAAAGGTTTCAACTGTACTTGTGACTTTTCCATAAGTCTGTAACTGTTGCAAAATTTTAAAGTAAAGAAAAATAGATGACACATATAAGAATTTAAAACATCATATATGTGCTAAGTGAATTACATAAGCAATAATTGTTTGTTCCTTCATTCAACTTTTTTTTTGCCACTGGCTAATGGTGGTCCTAAGTTCCAAAATGATGGATCGCGGAGGTGAGATTCCAGGCCAGCTTTAAAATTCTGGAGCATCAGAAAGCCTGCTAACATGATGCCTACCATCTTCTACCCCTTCATTGGACTGCCAGCTAGTATCACCTCCCACCTCAGATGTCCACTCTATCCTAGCTACATCTCTCTCCATAGGCTCAGAGATCCCTGTAAGCGCACACGCGCGTGCGTGCACACATACACACACACAGAAACACGTGGGCCAGCCCCAAGTGTGTAAATTCTATTTCTTATCTTTTAAAAAAAGTAAAATTAAAAGCCTCCGCACTTTTCTAAGTAACTTTTCGGTACCGGTGGGCCTAGCTCCTTTTATATTAGCATCACAGGGCCAATGTGGTACCTGCAGTTGATGCTCTTATCCAAAGAAAGGCTTTCAGGTTCTGACCTCCTCCCCGTGCATTTATGAGTGTTTCCTCGTGTAGACAGAAGAGAGAGGAAATAATTTAGTTGCTACTGATAATCTCTGGTTTTGTATTGTTAAGTGATAGCTGCTTACTAAGCTGAGTAAGATAGAAATCATATCTTCAGGAATTCCAATATTCACCATCATTTTAAAAAACCATGGATGAGAAGGTCATTTGTGTTGGTCTCCATCAGTTGGTATATCTTATCATCACATGAAATGGAGGCTCATGTTGGTCTTAAAATGTTGAGATTTTACTACTCAAGACACCTAGAATAAATTGGGGTTGATGTCATAATGATCCCTGTTACATTATAACTAGGCCTTTACTACCAATTCCTTTGACCCTGCAGCCTGTAATAGGGTACGCTATCCTGACCCCTCCCTACCCCCACCAACCTTGGTTGTCAGGAAGGTGGTAGTGTGCTATTGATTTAATAAATATTTTTTCTTCATTTTTCCCTGTAGCGGTGGTTAATCTAATAAGTGAAGGTCTTATTATTTTGGCCACTGGCTGGGGTTGCCAGATTTGGCAAATAAAAATCTAGGATGCCTAGTGAAATTTGAGTTTCAGATAAACAACCAGGTTTTTTTTTTTTTTTTTTTTTTTTTTAGTGTAGATATGTCCTGTGCAATATTTGAAGTAGCATATGCTTATACTAAAAATTATTCATCATCTGAAATTAAATTTAACTGGGTGTCCTGTATTTATCTGGTGACCCTACCACAGGGAAAGTTTTACCTTTACCCTTTTGAAGGTGGGGCAGGATTTGAGAAGGGGACTTGGGGTGAAAGACCCCTTCATATTACCTTCTCAGCGCCAGACTGATGCCAGGAAGGCCAGACTCATGCCTGCGGTGCAGTGATTATTTGATGGGTCAGAAGACCCCTCAGTGCAGGACATAGAGAGCCCCCGTTCACCAGTTGTTAAGCTGCACCCCACAGCCTTTCCTAGCTTCGGGCTCCTAGTTCTGTGCCTTTCTGAGAAGATGTCAAGGGACAGCAGATACACAAGGCCCTTGGCCCAGTGCCTTTCAGCAGCCCTGGCACCGTGAGAACCCCTCCCCTCTTGGTCTGGTCCTTCAGAGCACACACAAGCTCCACCTTGGGCCCACGGAGGGGAGGGAGGCGCTGTAAACTGACACTTACGATGTCCCAGGGGAAGTTGGTCACCCAGTAGGTGGTGGGGCTCACTCCACTGATAAACTGGAGGTGCTTGGATTTGTTCACCCGCTCCTGGATCAAATAAAGGACAAAGCTGGCTGGGACGAAGGACATGGAGAAAATCACGCAGATGGCAACCACAGCATCCACTGAAGTGGTCAGCCTGCAGCAGGGCCAGAGACACAGGGAGAGGGCGATGAAGAGGGAAGAGCAGAAGGAGGAGAAGATACAAAGTCAGGCTTTGGGAAGGCCTTACACCCGCCCAGGTGTGGCCTCCAGGTTCCTCTTCTCTACCTTGAAGCTGTCACTCCACTAAACTGTCTTAATCCATATGGACCAAGGTTAAATGGGTATTTGCGGGTTGCCTTTCTATTTCATGTGAATATTTCTAGACAACCTTTCTTTTTATTATATTCTCTAATTATTTTTATGGTGTATAGAAATAGATGTTTATATTAATCTTATGTACTGCAATGCTCTCATTAGCTCTAATAATCTGTCTATAGAGTCTCTTGAATTTTCTATGTTGACAGACATACGGTCTGTGAGATTTATCTTTTGTTAATAATCATCTTGTTAAATCACATTTTCAAGAAGTACATCGTAACACAAGGAAATGTTCATGATGTAAATTTAAGTGAAAAGAGGGCAGGCAAGTTGTACAGGGACTTGGCTCTATTTATTCTTTCCTCGGACAAATAGAAGGCATCTGGCTGAGGGGTAAGTTGGGGCTAAAGCCAGCCTGAACTTTATGTACAAGCCATAACCCCTGGCATGGGACAGTGTCCACCTGCAGAAAAGAGCATTTTTACTAATTTCCACAAAGGTATCCTATGTGGTAGTCACTACCTTGATAAAACTACAGATCATATCATCCATACACGTAGTAAGCTTAGAACAAATGACTGGAAGGAGACACACGAAAGTGTGGCTGAGTGAGAATTAACAGAGGACAGTCTAGGGCCCTAGGGTGTCCAGAGGAAGACACCAAGGAGCCAAGGCCCAGGTTTTAGTGGATGACCCTGGGCATGTTCACTGGCACTCAGCGTGTGCTAGGATAGTAAAATCAGGACCCCACAACGTTGCTGAAGTTTGCACTAACAAAGGTGCTCCTACCAACCCCTCCTCCATGTAGGCCTCAAATAGAGTGAACATACTACAAAACGCACAAGGCCACTGTCTCCACTGGCTGAAACTGTGCAAGAAGAGCCTCAGCTTGAGGGTAGCAAAGCTCTGTCGACATCTCCAAAGTATGCTCTTCTGAGGAAATTCCTGGAATCTAAGATAATTACTCCGAGGGAGCTGAAAGGTTTACTGAACTTTGCCAGTTCCTGGCAGCTGCTTTGCACATAGCAAAGATAATAATTGTATAAGCTCCAGGAGCAACTTGCTATCAAAAGCCAAAAGGGAATGGAACCAAATGTAAACTTACTTGCCACATAAATGTTGGGGAGAAAGAATGACCAAGAGGTCTGGTATGTGAAGTGTGAGGCACTTATTTGAAAGTCGGATGTTCATATGTGCCTGACTAAACAGCATTACCATCCAAATCAGCACTTCGCGGTGGTGAGAATCCTCTCAGGATGTTCAAAGAGTGGAGAAGGTGACAAGAAAGTGGTGAGGCTGGGGCTGTGGTGGCTTACACTGTAATCTCTGAGAGCTGCTCCTTGGTCAGGTTCAGGGGTTGGCTAATGACGGTGATTCCATACTCCTCGGGGCTCCTGTCCTTAGGCAGGCTGGCCCGTAAGATGGCGTTGTGGGCCACATTGAGAAAGCTGACCAGGGCATGCCAGCCTTTGTTATTAAACCACACCTAGAGGGTGGAGAGGACATCTGAGACGCTGCACTAACAGCTAGTTAAAGCAGAAATCAGTGAAGGAAAGGAAATTTGAGAAGCAGGAAGGGTTTGGTAGCTGGAAGACATTCCTTGCTAGATTTCAGCAGGAGGAGGGATGGAATTTAATGAAGGTAGGAAAGTAAAAATAAAATAACCAGCTCAGGTAAATTTTTAGCTCCAGAGCAGATTATACATAGGTCAAGTAC
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Task1_train_1160
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This sequence variant lies in ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; not provided
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ATGTTGACAGTTTGTGTTGTGGTTGTATGGGGTGTATCCTCGTTTGTAGGAAGTATACATCGGACGTGCTGAGGGGTGTGAGAGAGAGAGACAGGAAGAGAGAAATAAATGAGAAGGGGCATCTTGCTGAGAAGTTACTTTCAAATGACTAAGAAAAAAAGGTTTCAACTGTACTTGTGACTTTTCCATAAGTCTGTAACTGTTGCAAAATTTTAAAGTAAAGAAAAATAGATGACACATATAAGAATTTAAAACATCATATATGTGCTAAGTGAATTACATAAGCAATAATTGTTTGTTCCTTCATTCAACTTTTTTTTTGCCACTGGCTAATGGTGGTCCTAAGTTCCAAAATGATGGATCGCGGAGGTGAGATTCCAGGCCAGCTTTAAAATTCTGGAGCATCAGAAAGCCTGCTAACATGATGCCTACCATCTTCTACCCCTTCATTGGACTGCCAGCTAGTATCACCTCCCACCTCAGATGTCCACTCTATCCTAGCTACATCTCTCTCCATAGGCTCAGAGATCCCTGTAAGCGCACACGCGCGTGCGTGCACACATACACACACACAGAAACACGTGGGCCAGCCCCAAGTGTGTAAATTCTATTTCTTATCTTTTAAAAAAAGTAAAATTAAAAGCCTCCGCACTTTTCTAAGTAACTTTTCGGTACCGGTGGGCCTAGCTCCTTTTATATTAGCATCACAGGGCCAATGTGGTACCTGCAGTTGATGCTCTTATCCAAAGAAAGGCTTTCAGGTTCTGACCTCCTCCCCGTGCATTTATGAGTGTTTCCTCGTGTAGACAGAAGAGAGAGGAAATAATTTAGTTGCTACTGATAATCTCTGGTTTTGTATTGTTAAGTGATAGCTGCTTACTAAGCTGAGTAAGATAGAAATCATATCTTCAGGAATTCCAATATTCACCATCATTTTAAAAAACCATGGATGAGAAGGTCATTTGTGTTGGTCTCCATCAGTTGGTATATCTTATCATCACATGAAATGGAGGCTCATGTTGGTCTTAAAATGTTGAGATTTTACTACTCAAGACACCTAGAATAAATTGGGGTTGATGTCATAATGATCCCTGTTACATTATAACTAGGCCTTTACTACCAATTCCTTTGACCCTGCAGCCTGTAATAGGGTACGCTATCCTGACCCCTCCCTACCCCCACCAACCTTGGTTGTCAGGAAGGTGGTAGTGTGCTATTGATTTAATAAATATTTTTTCTTCATTTTTCCCTGTAGCGGTGGTTAATCTAATAAGTGAAGGTCTTATTATTTTGGCCACTGGCTGGGGTTGCCAGATTTGGCAAATAAAAATCTAGGATGCCTAGTGAAATTTGAGTTTCAGATAAACAACCAGGTTTTTTTTTTTTTTTTTTTTTTTTTTAGTGTAGATATGTCCTGTGCAATATTTGAAGTAGCATATGCTTATACTAAAAATTATTCATCATCTGAAATTAAATTTAACTGGGTGTCCTGTATTTATCTGGTGACCCTACCACAGGGAAAGTTTTACCTTTACCCTTTTGAAGGTGGGGCAGGATTTGAGAAGGGGACTTGGGGTGAAAGACCCCTTCATATTACCTTCTCAGCGCCAGACTGATGCCAGGAAGGCCAGACTCATGCCTGCGGTGCAGTGATTATTTGATGGGTCAGAAGACCCCTCAGTGCAGGACATAGAGAGCCCCCGTTCACCAGTTGTTAAGCTGCACCCCACAGCCTTTCCTAGCTTCGGGCTCCTAGTTCTGTGCCTTTCTGAGAAGATGTCAAGGGACAGCAGATACACAAGGCCCTTGGCCCAGTGCCTTTCAGCAGCCCTGGCACCGTGAGAACCCCTCCCCTCTTGGTCTGGTCCTTCAGAGCACACACAAGCTCCACCTTGGGCCCACGGAGGGGAGGGAGGCGCTGTAAACTGACACTTACGATGTCCCAGAGGAAGTTGGTCACCCAGTAGGTGGTGGGGCTCACTCCACTGATAAACTGGAGGTGCTTGGATTTGTTCACCCGCTCCTGGATCAAATAAAGGACAAAGCTGGCTGGGACGAAGGACATGGAGAAAATCACGCAGATGGCAACCACAGCATCCACTGAAGTGGTCAGCCTGCAGCAGGGCCAGAGACACAGGGAGAGGGCGATGAAGAGGGAAGAGCAGAAGGAGGAGAAGATACAAAGTCAGGCTTTGGGAAGGCCTTACACCCGCCCAGGTGTGGCCTCCAGGTTCCTCTTCTCTACCTTGAAGCTGTCACTCCACTAAACTGTCTTAATCCATATGGACCAAGGTTAAATGGGTATTTGCGGGTTGCCTTTCTATTTCATGTGAATATTTCTAGACAACCTTTCTTTTTATTATATTCTCTAATTATTTTTATGGTGTATAGAAATAGATGTTTATATTAATCTTATGTACTGCAATGCTCTCATTAGCTCTAATAATCTGTCTATAGAGTCTCTTGAATTTTCTATGTTGACAGACATACGGTCTGTGAGATTTATCTTTTGTTAATAATCATCTTGTTAAATCACATTTTCAAGAAGTACATCGTAACACAAGGAAATGTTCATGATGTAAATTTAAGTGAAAAGAGGGCAGGCAAGTTGTACAGGGACTTGGCTCTATTTATTCTTTCCTCGGACAAATAGAAGGCATCTGGCTGAGGGGTAAGTTGGGGCTAAAGCCAGCCTGAACTTTATGTACAAGCCATAACCCCTGGCATGGGACAGTGTCCACCTGCAGAAAAGAGCATTTTTACTAATTTCCACAAAGGTATCCTATGTGGTAGTCACTACCTTGATAAAACTACAGATCATATCATCCATACACGTAGTAAGCTTAGAACAAATGACTGGAAGGAGACACACGAAAGTGTGGCTGAGTGAGAATTAACAGAGGACAGTCTAGGGCCCTAGGGTGTCCAGAGGAAGACACCAAGGAGCCAAGGCCCAGGTTTTAGTGGATGACCCTGGGCATGTTCACTGGCACTCAGCGTGTGCTAGGATAGTAAAATCAGGACCCCACAACGTTGCTGAAGTTTGCACTAACAAAGGTGCTCCTACCAACCCCTCCTCCATGTAGGCCTCAAATAGAGTGAACATACTACAAAACGCACAAGGCCACTGTCTCCACTGGCTGAAACTGTGCAAGAAGAGCCTCAGCTTGAGGGTAGCAAAGCTCTGTCGACATCTCCAAAGTATGCTCTTCTGAGGAAATTCCTGGAATCTAAGATAATTACTCCGAGGGAGCTGAAAGGTTTACTGAACTTTGCCAGTTCCTGGCAGCTGCTTTGCACATAGCAAAGATAATAATTGTATAAGCTCCAGGAGCAACTTGCTATCAAAAGCCAAAAGGGAATGGAACCAAATGTAAACTTACTTGCCACATAAATGTTGGGGAGAAAGAATGACCAAGAGGTCTGGTATGTGAAGTGTGAGGCACTTATTTGAAAGTCGGATGTTCATATGTGCCTGACTAAACAGCATTACCATCCAAATCAGCACTTCGCGGTGGTGAGAATCCTCTCAGGATGTTCAAAGAGTGGAGAAGGTGACAAGAAAGTGGTGAGGCTGGGGCTGTGGTGGCTTACACTGTAATCTCTGAGAGCTGCTCCTTGGTCAGGTTCAGGGGTTGGCTAATGACGGTGATTCCATACTCCTCGGGGCTCCTGTCCTTAGGCAGGCTGGCCCGTAAGATGGCGTTGTGGGCCACATTGAGAAAGCTGACCAGGGCATGCCAGCCTTTGTTATTAAACCACACCTAGAGGGTGGAGAGGACATCTGAGACGCTGCACTAACAGCTAGTTAAAGCAGAAATCAGTGAAGGAAAGGAAATTTGAGAAGCAGGAAGGGTTTGGTAGCTGGAAGACATTCCTTGCTAGATTTCAGCAGGAGGAGGGATGGAATTTAATGAAGGTAGGAAAGTAAAAATAAAATAACCAGCTCAGGTAAATTTTTAGCTCCAGAGCAGATTATACATAGGTCAAGTACCTTAATGTTGTCTTCAGTTTCTAGATGTTTAAGGAAATCAGGTATTTCTTTAGAGGCCTCTCTAGTGATAGGGCCCTAAAAACCATGTAAACAAACAAACAA
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ATGTTGACAGTTTGTGTTGTGGTTGTATGGGGTGTATCCTCGTTTGTAGGAAGTATACATCGGACGTGCTGAGGGGTGTGAGAGAGAGAGACAGGAAGAGAGAAATAAATGAGAAGGGGCATCTTGCTGAGAAGTTACTTTCAAATGACTAAGAAAAAAAGGTTTCAACTGTACTTGTGACTTTTCCATAAGTCTGTAACTGTTGCAAAATTTTAAAGTAAAGAAAAATAGATGACACATATAAGAATTTAAAACATCATATATGTGCTAAGTGAATTACATAAGCAATAATTGTTTGTTCCTTCATTCAACTTTTTTTTTGCCACTGGCTAATGGTGGTCCTAAGTTCCAAAATGATGGATCGCGGAGGTGAGATTCCAGGCCAGCTTTAAAATTCTGGAGCATCAGAAAGCCTGCTAACATGATGCCTACCATCTTCTACCCCTTCATTGGACTGCCAGCTAGTATCACCTCCCACCTCAGATGTCCACTCTATCCTAGCTACATCTCTCTCCATAGGCTCAGAGATCCCTGTAAGCGCACACGCGCGTGCGTGCACACATACACACACACAGAAACACGTGGGCCAGCCCCAAGTGTGTAAATTCTATTTCTTATCTTTTAAAAAAAGTAAAATTAAAAGCCTCCGCACTTTTCTAAGTAACTTTTCGGTACCGGTGGGCCTAGCTCCTTTTATATTAGCATCACAGGGCCAATGTGGTACCTGCAGTTGATGCTCTTATCCAAAGAAAGGCTTTCAGGTTCTGACCTCCTCCCCGTGCATTTATGAGTGTTTCCTCGTGTAGACAGAAGAGAGAGGAAATAATTTAGTTGCTACTGATAATCTCTGGTTTTGTATTGTTAAGTGATAGCTGCTTACTAAGCTGAGTAAGATAGAAATCATATCTTCAGGAATTCCAATATTCACCATCATTTTAAAAAACCATGGATGAGAAGGTCATTTGTGTTGGTCTCCATCAGTTGGTATATCTTATCATCACATGAAATGGAGGCTCATGTTGGTCTTAAAATGTTGAGATTTTACTACTCAAGACACCTAGAATAAATTGGGGTTGATGTCATAATGATCCCTGTTACATTATAACTAGGCCTTTACTACCAATTCCTTTGACCCTGCAGCCTGTAATAGGGTACGCTATCCTGACCCCTCCCTACCCCCACCAACCTTGGTTGTCAGGAAGGTGGTAGTGTGCTATTGATTTAATAAATATTTTTTCTTCATTTTTCCCTGTAGCGGTGGTTAATCTAATAAGTGAAGGTCTTATTATTTTGGCCACTGGCTGGGGTTGCCAGATTTGGCAAATAAAAATCTAGGATGCCTAGTGAAATTTGAGTTTCAGATAAACAACCAGGTTTTTTTTTTTTTTTTTTTTTTTTTTAGTGTAGATATGTCCTGTGCAATATTTGAAGTAGCATATGCTTATACTAAAAATTATTCATCATCTGAAATTAAATTTAACTGGGTGTCCTGTATTTATCTGGTGACCCTACCACAGGGAAAGTTTTACCTTTACCCTTTTGAAGGTGGGGCAGGATTTGAGAAGGGGACTTGGGGTGAAAGACCCCTTCATATTACCTTCTCAGCGCCAGACTGATGCCAGGAAGGCCAGACTCATGCCTGCGGTGCAGTGATTATTTGATGGGTCAGAAGACCCCTCAGTGCAGGACATAGAGAGCCCCCGTTCACCAGTTGTTAAGCTGCACCCCACAGCCTTTCCTAGCTTCGGGCTCCTAGTTCTGTGCCTTTCTGAGAAGATGTCAAGGGACAGCAGATACACAAGGCCCTTGGCCCAGTGCCTTTCAGCAGCCCTGGCACCGTGAGAACCCCTCCCCTCTTGGTCTGGTCCTTCAGAGCACACACAAGCTCCACCTTGGGCCCACGGAGGGGAGGGAGGCGCTGTAAACTGACACTTACGATGTCCCAGAGGAAGTTGGTCACCCAGTAGGTGGTGGGGCTCACTCCACTGATAAACTGGAGGTGCTTGGATTTGTTCACCCGCTCCTGGATCAAATAAAGGACAAAGCTGTCTGGGACGAAGGACATGGAGAAAATCACGCAGATGGCAACCACAGCATCCACTGAAGTGGTCAGCCTGCAGCAGGGCCAGAGACACAGGGAGAGGGCGATGAAGAGGGAAGAGCAGAAGGAGGAGAAGATACAAAGTCAGGCTTTGGGAAGGCCTTACACCCGCCCAGGTGTGGCCTCCAGGTTCCTCTTCTCTACCTTGAAGCTGTCACTCCACTAAACTGTCTTAATCCATATGGACCAAGGTTAAATGGGTATTTGCGGGTTGCCTTTCTATTTCATGTGAATATTTCTAGACAACCTTTCTTTTTATTATATTCTCTAATTATTTTTATGGTGTATAGAAATAGATGTTTATATTAATCTTATGTACTGCAATGCTCTCATTAGCTCTAATAATCTGTCTATAGAGTCTCTTGAATTTTCTATGTTGACAGACATACGGTCTGTGAGATTTATCTTTTGTTAATAATCATCTTGTTAAATCACATTTTCAAGAAGTACATCGTAACACAAGGAAATGTTCATGATGTAAATTTAAGTGAAAAGAGGGCAGGCAAGTTGTACAGGGACTTGGCTCTATTTATTCTTTCCTCGGACAAATAGAAGGCATCTGGCTGAGGGGTAAGTTGGGGCTAAAGCCAGCCTGAACTTTATGTACAAGCCATAACCCCTGGCATGGGACAGTGTCCACCTGCAGAAAAGAGCATTTTTACTAATTTCCACAAAGGTATCCTATGTGGTAGTCACTACCTTGATAAAACTACAGATCATATCATCCATACACGTAGTAAGCTTAGAACAAATGACTGGAAGGAGACACACGAAAGTGTGGCTGAGTGAGAATTAACAGAGGACAGTCTAGGGCCCTAGGGTGTCCAGAGGAAGACACCAAGGAGCCAAGGCCCAGGTTTTAGTGGATGACCCTGGGCATGTTCACTGGCACTCAGCGTGTGCTAGGATAGTAAAATCAGGACCCCACAACGTTGCTGAAGTTTGCACTAACAAAGGTGCTCCTACCAACCCCTCCTCCATGTAGGCCTCAAATAGAGTGAACATACTACAAAACGCACAAGGCCACTGTCTCCACTGGCTGAAACTGTGCAAGAAGAGCCTCAGCTTGAGGGTAGCAAAGCTCTGTCGACATCTCCAAAGTATGCTCTTCTGAGGAAATTCCTGGAATCTAAGATAATTACTCCGAGGGAGCTGAAAGGTTTACTGAACTTTGCCAGTTCCTGGCAGCTGCTTTGCACATAGCAAAGATAATAATTGTATAAGCTCCAGGAGCAACTTGCTATCAAAAGCCAAAAGGGAATGGAACCAAATGTAAACTTACTTGCCACATAAATGTTGGGGAGAAAGAATGACCAAGAGGTCTGGTATGTGAAGTGTGAGGCACTTATTTGAAAGTCGGATGTTCATATGTGCCTGACTAAACAGCATTACCATCCAAATCAGCACTTCGCGGTGGTGAGAATCCTCTCAGGATGTTCAAAGAGTGGAGAAGGTGACAAGAAAGTGGTGAGGCTGGGGCTGTGGTGGCTTACACTGTAATCTCTGAGAGCTGCTCCTTGGTCAGGTTCAGGGGTTGGCTAATGACGGTGATTCCATACTCCTCGGGGCTCCTGTCCTTAGGCAGGCTGGCCCGTAAGATGGCGTTGTGGGCCACATTGAGAAAGCTGACCAGGGCATGCCAGCCTTTGTTATTAAACCACACCTAGAGGGTGGAGAGGACATCTGAGACGCTGCACTAACAGCTAGTTAAAGCAGAAATCAGTGAAGGAAAGGAAATTTGAGAAGCAGGAAGGGTTTGGTAGCTGGAAGACATTCCTTGCTAGATTTCAGCAGGAGGAGGGATGGAATTTAATGAAGGTAGGAAAGTAAAAATAAAATAACCAGCTCAGGTAAATTTTTAGCTCCAGAGCAGATTATACATAGGTCAAGTACCTTAATGTTGTCTTCAGTTTCTAGATGTTTAAGGAAATCAGGTATTTCTTTAGAGGCCTCTCTAGTGATAGGGCCCTAAAAACCATGTAAACAAACAAACAA
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Task1_train_1161
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Given this variant in gene ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; not provided
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TGTTGTGGTTGTATGGGGTGTATCCTCGTTTGTAGGAAGTATACATCGGACGTGCTGAGGGGTGTGAGAGAGAGAGACAGGAAGAGAGAAATAAATGAGAAGGGGCATCTTGCTGAGAAGTTACTTTCAAATGACTAAGAAAAAAAGGTTTCAACTGTACTTGTGACTTTTCCATAAGTCTGTAACTGTTGCAAAATTTTAAAGTAAAGAAAAATAGATGACACATATAAGAATTTAAAACATCATATATGTGCTAAGTGAATTACATAAGCAATAATTGTTTGTTCCTTCATTCAACTTTTTTTTTGCCACTGGCTAATGGTGGTCCTAAGTTCCAAAATGATGGATCGCGGAGGTGAGATTCCAGGCCAGCTTTAAAATTCTGGAGCATCAGAAAGCCTGCTAACATGATGCCTACCATCTTCTACCCCTTCATTGGACTGCCAGCTAGTATCACCTCCCACCTCAGATGTCCACTCTATCCTAGCTACATCTCTCTCCATAGGCTCAGAGATCCCTGTAAGCGCACACGCGCGTGCGTGCACACATACACACACACAGAAACACGTGGGCCAGCCCCAAGTGTGTAAATTCTATTTCTTATCTTTTAAAAAAAGTAAAATTAAAAGCCTCCGCACTTTTCTAAGTAACTTTTCGGTACCGGTGGGCCTAGCTCCTTTTATATTAGCATCACAGGGCCAATGTGGTACCTGCAGTTGATGCTCTTATCCAAAGAAAGGCTTTCAGGTTCTGACCTCCTCCCCGTGCATTTATGAGTGTTTCCTCGTGTAGACAGAAGAGAGAGGAAATAATTTAGTTGCTACTGATAATCTCTGGTTTTGTATTGTTAAGTGATAGCTGCTTACTAAGCTGAGTAAGATAGAAATCATATCTTCAGGAATTCCAATATTCACCATCATTTTAAAAAACCATGGATGAGAAGGTCATTTGTGTTGGTCTCCATCAGTTGGTATATCTTATCATCACATGAAATGGAGGCTCATGTTGGTCTTAAAATGTTGAGATTTTACTACTCAAGACACCTAGAATAAATTGGGGTTGATGTCATAATGATCCCTGTTACATTATAACTAGGCCTTTACTACCAATTCCTTTGACCCTGCAGCCTGTAATAGGGTACGCTATCCTGACCCCTCCCTACCCCCACCAACCTTGGTTGTCAGGAAGGTGGTAGTGTGCTATTGATTTAATAAATATTTTTTCTTCATTTTTCCCTGTAGCGGTGGTTAATCTAATAAGTGAAGGTCTTATTATTTTGGCCACTGGCTGGGGTTGCCAGATTTGGCAAATAAAAATCTAGGATGCCTAGTGAAATTTGAGTTTCAGATAAACAACCAGGTTTTTTTTTTTTTTTTTTTTTTTTTTAGTGTAGATATGTCCTGTGCAATATTTGAAGTAGCATATGCTTATACTAAAAATTATTCATCATCTGAAATTAAATTTAACTGGGTGTCCTGTATTTATCTGGTGACCCTACCACAGGGAAAGTTTTACCTTTACCCTTTTGAAGGTGGGGCAGGATTTGAGAAGGGGACTTGGGGTGAAAGACCCCTTCATATTACCTTCTCAGCGCCAGACTGATGCCAGGAAGGCCAGACTCATGCCTGCGGTGCAGTGATTATTTGATGGGTCAGAAGACCCCTCAGTGCAGGACATAGAGAGCCCCCGTTCACCAGTTGTTAAGCTGCACCCCACAGCCTTTCCTAGCTTCGGGCTCCTAGTTCTGTGCCTTTCTGAGAAGATGTCAAGGGACAGCAGATACACAAGGCCCTTGGCCCAGTGCCTTTCAGCAGCCCTGGCACCGTGAGAACCCCTCCCCTCTTGGTCTGGTCCTTCAGAGCACACACAAGCTCCACCTTGGGCCCACGGAGGGGAGGGAGGCGCTGTAAACTGACACTTACGATGTCCCAGAGGAAGTTGGTCACCCAGTAGGTGGTGGGGCTCACTCCACTGATAAACTGGAGGTGCTTGGATTTGTTCACCCGCTCCTGGATCAAATAAAGGACAAAGCTGGCTGGGACGAAGGACATGGAGAAAATCACGCAGATGGCAACCACAGCATCCACTGAAGTGGTCAGCCTGCAGCAGGGCCAGAGACACAGGGAGAGGGCGATGAAGAGGGAAGAGCAGAAGGAGGAGAAGATACAAAGTCAGGCTTTGGGAAGGCCTTACACCCGCCCAGGTGTGGCCTCCAGGTTCCTCTTCTCTACCTTGAAGCTGTCACTCCACTAAACTGTCTTAATCCATATGGACCAAGGTTAAATGGGTATTTGCGGGTTGCCTTTCTATTTCATGTGAATATTTCTAGACAACCTTTCTTTTTATTATATTCTCTAATTATTTTTATGGTGTATAGAAATAGATGTTTATATTAATCTTATGTACTGCAATGCTCTCATTAGCTCTAATAATCTGTCTATAGAGTCTCTTGAATTTTCTATGTTGACAGACATACGGTCTGTGAGATTTATCTTTTGTTAATAATCATCTTGTTAAATCACATTTTCAAGAAGTACATCGTAACACAAGGAAATGTTCATGATGTAAATTTAAGTGAAAAGAGGGCAGGCAAGTTGTACAGGGACTTGGCTCTATTTATTCTTTCCTCGGACAAATAGAAGGCATCTGGCTGAGGGGTAAGTTGGGGCTAAAGCCAGCCTGAACTTTATGTACAAGCCATAACCCCTGGCATGGGACAGTGTCCACCTGCAGAAAAGAGCATTTTTACTAATTTCCACAAAGGTATCCTATGTGGTAGTCACTACCTTGATAAAACTACAGATCATATCATCCATACACGTAGTAAGCTTAGAACAAATGACTGGAAGGAGACACACGAAAGTGTGGCTGAGTGAGAATTAACAGAGGACAGTCTAGGGCCCTAGGGTGTCCAGAGGAAGACACCAAGGAGCCAAGGCCCAGGTTTTAGTGGATGACCCTGGGCATGTTCACTGGCACTCAGCGTGTGCTAGGATAGTAAAATCAGGACCCCACAACGTTGCTGAAGTTTGCACTAACAAAGGTGCTCCTACCAACCCCTCCTCCATGTAGGCCTCAAATAGAGTGAACATACTACAAAACGCACAAGGCCACTGTCTCCACTGGCTGAAACTGTGCAAGAAGAGCCTCAGCTTGAGGGTAGCAAAGCTCTGTCGACATCTCCAAAGTATGCTCTTCTGAGGAAATTCCTGGAATCTAAGATAATTACTCCGAGGGAGCTGAAAGGTTTACTGAACTTTGCCAGTTCCTGGCAGCTGCTTTGCACATAGCAAAGATAATAATTGTATAAGCTCCAGGAGCAACTTGCTATCAAAAGCCAAAAGGGAATGGAACCAAATGTAAACTTACTTGCCACATAAATGTTGGGGAGAAAGAATGACCAAGAGGTCTGGTATGTGAAGTGTGAGGCACTTATTTGAAAGTCGGATGTTCATATGTGCCTGACTAAACAGCATTACCATCCAAATCAGCACTTCGCGGTGGTGAGAATCCTCTCAGGATGTTCAAAGAGTGGAGAAGGTGACAAGAAAGTGGTGAGGCTGGGGCTGTGGTGGCTTACACTGTAATCTCTGAGAGCTGCTCCTTGGTCAGGTTCAGGGGTTGGCTAATGACGGTGATTCCATACTCCTCGGGGCTCCTGTCCTTAGGCAGGCTGGCCCGTAAGATGGCGTTGTGGGCCACATTGAGAAAGCTGACCAGGGCATGCCAGCCTTTGTTATTAAACCACACCTAGAGGGTGGAGAGGACATCTGAGACGCTGCACTAACAGCTAGTTAAAGCAGAAATCAGTGAAGGAAAGGAAATTTGAGAAGCAGGAAGGGTTTGGTAGCTGGAAGACATTCCTTGCTAGATTTCAGCAGGAGGAGGGATGGAATTTAATGAAGGTAGGAAAGTAAAAATAAAATAACCAGCTCAGGTAAATTTTTAGCTCCAGAGCAGATTATACATAGGTCAAGTACCTTAATGTTGTCTTCAGTTTCTAGATGTTTAAGGAAATCAGGTATTTCTTTAGAGGCCTCTCTAGTGATAGGGCCCTAAAAACCATGTAAACAAACAAACAAGACGGTTTTAATTT
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TGTTGTGGTTGTATGGGGTGTATCCTCGTTTGTAGGAAGTATACATCGGACGTGCTGAGGGGTGTGAGAGAGAGAGACAGGAAGAGAGAAATAAATGAGAAGGGGCATCTTGCTGAGAAGTTACTTTCAAATGACTAAGAAAAAAAGGTTTCAACTGTACTTGTGACTTTTCCATAAGTCTGTAACTGTTGCAAAATTTTAAAGTAAAGAAAAATAGATGACACATATAAGAATTTAAAACATCATATATGTGCTAAGTGAATTACATAAGCAATAATTGTTTGTTCCTTCATTCAACTTTTTTTTTGCCACTGGCTAATGGTGGTCCTAAGTTCCAAAATGATGGATCGCGGAGGTGAGATTCCAGGCCAGCTTTAAAATTCTGGAGCATCAGAAAGCCTGCTAACATGATGCCTACCATCTTCTACCCCTTCATTGGACTGCCAGCTAGTATCACCTCCCACCTCAGATGTCCACTCTATCCTAGCTACATCTCTCTCCATAGGCTCAGAGATCCCTGTAAGCGCACACGCGCGTGCGTGCACACATACACACACACAGAAACACGTGGGCCAGCCCCAAGTGTGTAAATTCTATTTCTTATCTTTTAAAAAAAGTAAAATTAAAAGCCTCCGCACTTTTCTAAGTAACTTTTCGGTACCGGTGGGCCTAGCTCCTTTTATATTAGCATCACAGGGCCAATGTGGTACCTGCAGTTGATGCTCTTATCCAAAGAAAGGCTTTCAGGTTCTGACCTCCTCCCCGTGCATTTATGAGTGTTTCCTCGTGTAGACAGAAGAGAGAGGAAATAATTTAGTTGCTACTGATAATCTCTGGTTTTGTATTGTTAAGTGATAGCTGCTTACTAAGCTGAGTAAGATAGAAATCATATCTTCAGGAATTCCAATATTCACCATCATTTTAAAAAACCATGGATGAGAAGGTCATTTGTGTTGGTCTCCATCAGTTGGTATATCTTATCATCACATGAAATGGAGGCTCATGTTGGTCTTAAAATGTTGAGATTTTACTACTCAAGACACCTAGAATAAATTGGGGTTGATGTCATAATGATCCCTGTTACATTATAACTAGGCCTTTACTACCAATTCCTTTGACCCTGCAGCCTGTAATAGGGTACGCTATCCTGACCCCTCCCTACCCCCACCAACCTTGGTTGTCAGGAAGGTGGTAGTGTGCTATTGATTTAATAAATATTTTTTCTTCATTTTTCCCTGTAGCGGTGGTTAATCTAATAAGTGAAGGTCTTATTATTTTGGCCACTGGCTGGGGTTGCCAGATTTGGCAAATAAAAATCTAGGATGCCTAGTGAAATTTGAGTTTCAGATAAACAACCAGGTTTTTTTTTTTTTTTTTTTTTTTTTTAGTGTAGATATGTCCTGTGCAATATTTGAAGTAGCATATGCTTATACTAAAAATTATTCATCATCTGAAATTAAATTTAACTGGGTGTCCTGTATTTATCTGGTGACCCTACCACAGGGAAAGTTTTACCTTTACCCTTTTGAAGGTGGGGCAGGATTTGAGAAGGGGACTTGGGGTGAAAGACCCCTTCATATTACCTTCTCAGCGCCAGACTGATGCCAGGAAGGCCAGACTCATGCCTGCGGTGCAGTGATTATTTGATGGGTCAGAAGACCCCTCAGTGCAGGACATAGAGAGCCCCCGTTCACCAGTTGTTAAGCTGCACCCCACAGCCTTTCCTAGCTTCGGGCTCCTAGTTCTGTGCCTTTCTGAGAAGATGTCAAGGGACAGCAGATACACAAGGCCCTTGGCCCAGTGCCTTTCAGCAGCCCTGGCACCGTGAGAACCCCTCCCCTCTTGGTCTGGTCCTTCAGAGCACACACAAGCTCCACCTTGGGCCCACGGAGGGGAGGGAGGCGCTGTAAACTGACACTTACGATGTCCCAGAGGAAGTTGGTCACCCAGTAGGTGGTGGGGCTCACTCCACTGATAAACTGGAGGTGCTTGGATTTGTTCACCCGCTCCTGGATCAAATAAAGGACAAAGCTGGCTGGGACGAAGGATATGGAGAAAATCACGCAGATGGCAACCACAGCATCCACTGAAGTGGTCAGCCTGCAGCAGGGCCAGAGACACAGGGAGAGGGCGATGAAGAGGGAAGAGCAGAAGGAGGAGAAGATACAAAGTCAGGCTTTGGGAAGGCCTTACACCCGCCCAGGTGTGGCCTCCAGGTTCCTCTTCTCTACCTTGAAGCTGTCACTCCACTAAACTGTCTTAATCCATATGGACCAAGGTTAAATGGGTATTTGCGGGTTGCCTTTCTATTTCATGTGAATATTTCTAGACAACCTTTCTTTTTATTATATTCTCTAATTATTTTTATGGTGTATAGAAATAGATGTTTATATTAATCTTATGTACTGCAATGCTCTCATTAGCTCTAATAATCTGTCTATAGAGTCTCTTGAATTTTCTATGTTGACAGACATACGGTCTGTGAGATTTATCTTTTGTTAATAATCATCTTGTTAAATCACATTTTCAAGAAGTACATCGTAACACAAGGAAATGTTCATGATGTAAATTTAAGTGAAAAGAGGGCAGGCAAGTTGTACAGGGACTTGGCTCTATTTATTCTTTCCTCGGACAAATAGAAGGCATCTGGCTGAGGGGTAAGTTGGGGCTAAAGCCAGCCTGAACTTTATGTACAAGCCATAACCCCTGGCATGGGACAGTGTCCACCTGCAGAAAAGAGCATTTTTACTAATTTCCACAAAGGTATCCTATGTGGTAGTCACTACCTTGATAAAACTACAGATCATATCATCCATACACGTAGTAAGCTTAGAACAAATGACTGGAAGGAGACACACGAAAGTGTGGCTGAGTGAGAATTAACAGAGGACAGTCTAGGGCCCTAGGGTGTCCAGAGGAAGACACCAAGGAGCCAAGGCCCAGGTTTTAGTGGATGACCCTGGGCATGTTCACTGGCACTCAGCGTGTGCTAGGATAGTAAAATCAGGACCCCACAACGTTGCTGAAGTTTGCACTAACAAAGGTGCTCCTACCAACCCCTCCTCCATGTAGGCCTCAAATAGAGTGAACATACTACAAAACGCACAAGGCCACTGTCTCCACTGGCTGAAACTGTGCAAGAAGAGCCTCAGCTTGAGGGTAGCAAAGCTCTGTCGACATCTCCAAAGTATGCTCTTCTGAGGAAATTCCTGGAATCTAAGATAATTACTCCGAGGGAGCTGAAAGGTTTACTGAACTTTGCCAGTTCCTGGCAGCTGCTTTGCACATAGCAAAGATAATAATTGTATAAGCTCCAGGAGCAACTTGCTATCAAAAGCCAAAAGGGAATGGAACCAAATGTAAACTTACTTGCCACATAAATGTTGGGGAGAAAGAATGACCAAGAGGTCTGGTATGTGAAGTGTGAGGCACTTATTTGAAAGTCGGATGTTCATATGTGCCTGACTAAACAGCATTACCATCCAAATCAGCACTTCGCGGTGGTGAGAATCCTCTCAGGATGTTCAAAGAGTGGAGAAGGTGACAAGAAAGTGGTGAGGCTGGGGCTGTGGTGGCTTACACTGTAATCTCTGAGAGCTGCTCCTTGGTCAGGTTCAGGGGTTGGCTAATGACGGTGATTCCATACTCCTCGGGGCTCCTGTCCTTAGGCAGGCTGGCCCGTAAGATGGCGTTGTGGGCCACATTGAGAAAGCTGACCAGGGCATGCCAGCCTTTGTTATTAAACCACACCTAGAGGGTGGAGAGGACATCTGAGACGCTGCACTAACAGCTAGTTAAAGCAGAAATCAGTGAAGGAAAGGAAATTTGAGAAGCAGGAAGGGTTTGGTAGCTGGAAGACATTCCTTGCTAGATTTCAGCAGGAGGAGGGATGGAATTTAATGAAGGTAGGAAAGTAAAAATAAAATAACCAGCTCAGGTAAATTTTTAGCTCCAGAGCAGATTATACATAGGTCAAGTACCTTAATGTTGTCTTCAGTTTCTAGATGTTTAAGGAAATCAGGTATTTCTTTAGAGGCCTCTCTAGTGATAGGGCCCTAAAAACCATGTAAACAAACAAACAAGACGGTTTTAATTT
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Task1_train_1162
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Here is a mutation in ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; not provided
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GTTGTGGTTGTATGGGGTGTATCCTCGTTTGTAGGAAGTATACATCGGACGTGCTGAGGGGTGTGAGAGAGAGAGACAGGAAGAGAGAAATAAATGAGAAGGGGCATCTTGCTGAGAAGTTACTTTCAAATGACTAAGAAAAAAAGGTTTCAACTGTACTTGTGACTTTTCCATAAGTCTGTAACTGTTGCAAAATTTTAAAGTAAAGAAAAATAGATGACACATATAAGAATTTAAAACATCATATATGTGCTAAGTGAATTACATAAGCAATAATTGTTTGTTCCTTCATTCAACTTTTTTTTTGCCACTGGCTAATGGTGGTCCTAAGTTCCAAAATGATGGATCGCGGAGGTGAGATTCCAGGCCAGCTTTAAAATTCTGGAGCATCAGAAAGCCTGCTAACATGATGCCTACCATCTTCTACCCCTTCATTGGACTGCCAGCTAGTATCACCTCCCACCTCAGATGTCCACTCTATCCTAGCTACATCTCTCTCCATAGGCTCAGAGATCCCTGTAAGCGCACACGCGCGTGCGTGCACACATACACACACACAGAAACACGTGGGCCAGCCCCAAGTGTGTAAATTCTATTTCTTATCTTTTAAAAAAAGTAAAATTAAAAGCCTCCGCACTTTTCTAAGTAACTTTTCGGTACCGGTGGGCCTAGCTCCTTTTATATTAGCATCACAGGGCCAATGTGGTACCTGCAGTTGATGCTCTTATCCAAAGAAAGGCTTTCAGGTTCTGACCTCCTCCCCGTGCATTTATGAGTGTTTCCTCGTGTAGACAGAAGAGAGAGGAAATAATTTAGTTGCTACTGATAATCTCTGGTTTTGTATTGTTAAGTGATAGCTGCTTACTAAGCTGAGTAAGATAGAAATCATATCTTCAGGAATTCCAATATTCACCATCATTTTAAAAAACCATGGATGAGAAGGTCATTTGTGTTGGTCTCCATCAGTTGGTATATCTTATCATCACATGAAATGGAGGCTCATGTTGGTCTTAAAATGTTGAGATTTTACTACTCAAGACACCTAGAATAAATTGGGGTTGATGTCATAATGATCCCTGTTACATTATAACTAGGCCTTTACTACCAATTCCTTTGACCCTGCAGCCTGTAATAGGGTACGCTATCCTGACCCCTCCCTACCCCCACCAACCTTGGTTGTCAGGAAGGTGGTAGTGTGCTATTGATTTAATAAATATTTTTTCTTCATTTTTCCCTGTAGCGGTGGTTAATCTAATAAGTGAAGGTCTTATTATTTTGGCCACTGGCTGGGGTTGCCAGATTTGGCAAATAAAAATCTAGGATGCCTAGTGAAATTTGAGTTTCAGATAAACAACCAGGTTTTTTTTTTTTTTTTTTTTTTTTTTAGTGTAGATATGTCCTGTGCAATATTTGAAGTAGCATATGCTTATACTAAAAATTATTCATCATCTGAAATTAAATTTAACTGGGTGTCCTGTATTTATCTGGTGACCCTACCACAGGGAAAGTTTTACCTTTACCCTTTTGAAGGTGGGGCAGGATTTGAGAAGGGGACTTGGGGTGAAAGACCCCTTCATATTACCTTCTCAGCGCCAGACTGATGCCAGGAAGGCCAGACTCATGCCTGCGGTGCAGTGATTATTTGATGGGTCAGAAGACCCCTCAGTGCAGGACATAGAGAGCCCCCGTTCACCAGTTGTTAAGCTGCACCCCACAGCCTTTCCTAGCTTCGGGCTCCTAGTTCTGTGCCTTTCTGAGAAGATGTCAAGGGACAGCAGATACACAAGGCCCTTGGCCCAGTGCCTTTCAGCAGCCCTGGCACCGTGAGAACCCCTCCCCTCTTGGTCTGGTCCTTCAGAGCACACACAAGCTCCACCTTGGGCCCACGGAGGGGAGGGAGGCGCTGTAAACTGACACTTACGATGTCCCAGAGGAAGTTGGTCACCCAGTAGGTGGTGGGGCTCACTCCACTGATAAACTGGAGGTGCTTGGATTTGTTCACCCGCTCCTGGATCAAATAAAGGACAAAGCTGGCTGGGACGAAGGACATGGAGAAAATCACGCAGATGGCAACCACAGCATCCACTGAAGTGGTCAGCCTGCAGCAGGGCCAGAGACACAGGGAGAGGGCGATGAAGAGGGAAGAGCAGAAGGAGGAGAAGATACAAAGTCAGGCTTTGGGAAGGCCTTACACCCGCCCAGGTGTGGCCTCCAGGTTCCTCTTCTCTACCTTGAAGCTGTCACTCCACTAAACTGTCTTAATCCATATGGACCAAGGTTAAATGGGTATTTGCGGGTTGCCTTTCTATTTCATGTGAATATTTCTAGACAACCTTTCTTTTTATTATATTCTCTAATTATTTTTATGGTGTATAGAAATAGATGTTTATATTAATCTTATGTACTGCAATGCTCTCATTAGCTCTAATAATCTGTCTATAGAGTCTCTTGAATTTTCTATGTTGACAGACATACGGTCTGTGAGATTTATCTTTTGTTAATAATCATCTTGTTAAATCACATTTTCAAGAAGTACATCGTAACACAAGGAAATGTTCATGATGTAAATTTAAGTGAAAAGAGGGCAGGCAAGTTGTACAGGGACTTGGCTCTATTTATTCTTTCCTCGGACAAATAGAAGGCATCTGGCTGAGGGGTAAGTTGGGGCTAAAGCCAGCCTGAACTTTATGTACAAGCCATAACCCCTGGCATGGGACAGTGTCCACCTGCAGAAAAGAGCATTTTTACTAATTTCCACAAAGGTATCCTATGTGGTAGTCACTACCTTGATAAAACTACAGATCATATCATCCATACACGTAGTAAGCTTAGAACAAATGACTGGAAGGAGACACACGAAAGTGTGGCTGAGTGAGAATTAACAGAGGACAGTCTAGGGCCCTAGGGTGTCCAGAGGAAGACACCAAGGAGCCAAGGCCCAGGTTTTAGTGGATGACCCTGGGCATGTTCACTGGCACTCAGCGTGTGCTAGGATAGTAAAATCAGGACCCCACAACGTTGCTGAAGTTTGCACTAACAAAGGTGCTCCTACCAACCCCTCCTCCATGTAGGCCTCAAATAGAGTGAACATACTACAAAACGCACAAGGCCACTGTCTCCACTGGCTGAAACTGTGCAAGAAGAGCCTCAGCTTGAGGGTAGCAAAGCTCTGTCGACATCTCCAAAGTATGCTCTTCTGAGGAAATTCCTGGAATCTAAGATAATTACTCCGAGGGAGCTGAAAGGTTTACTGAACTTTGCCAGTTCCTGGCAGCTGCTTTGCACATAGCAAAGATAATAATTGTATAAGCTCCAGGAGCAACTTGCTATCAAAAGCCAAAAGGGAATGGAACCAAATGTAAACTTACTTGCCACATAAATGTTGGGGAGAAAGAATGACCAAGAGGTCTGGTATGTGAAGTGTGAGGCACTTATTTGAAAGTCGGATGTTCATATGTGCCTGACTAAACAGCATTACCATCCAAATCAGCACTTCGCGGTGGTGAGAATCCTCTCAGGATGTTCAAAGAGTGGAGAAGGTGACAAGAAAGTGGTGAGGCTGGGGCTGTGGTGGCTTACACTGTAATCTCTGAGAGCTGCTCCTTGGTCAGGTTCAGGGGTTGGCTAATGACGGTGATTCCATACTCCTCGGGGCTCCTGTCCTTAGGCAGGCTGGCCCGTAAGATGGCGTTGTGGGCCACATTGAGAAAGCTGACCAGGGCATGCCAGCCTTTGTTATTAAACCACACCTAGAGGGTGGAGAGGACATCTGAGACGCTGCACTAACAGCTAGTTAAAGCAGAAATCAGTGAAGGAAAGGAAATTTGAGAAGCAGGAAGGGTTTGGTAGCTGGAAGACATTCCTTGCTAGATTTCAGCAGGAGGAGGGATGGAATTTAATGAAGGTAGGAAAGTAAAAATAAAATAACCAGCTCAGGTAAATTTTTAGCTCCAGAGCAGATTATACATAGGTCAAGTACCTTAATGTTGTCTTCAGTTTCTAGATGTTTAAGGAAATCAGGTATTTCTTTAGAGGCCTCTCTAGTGATAGGGCCCTAAAAACCATGTAAACAAACAAACAAGACGGTTTTAATTTT
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GTTGTGGTTGTATGGGGTGTATCCTCGTTTGTAGGAAGTATACATCGGACGTGCTGAGGGGTGTGAGAGAGAGAGACAGGAAGAGAGAAATAAATGAGAAGGGGCATCTTGCTGAGAAGTTACTTTCAAATGACTAAGAAAAAAAGGTTTCAACTGTACTTGTGACTTTTCCATAAGTCTGTAACTGTTGCAAAATTTTAAAGTAAAGAAAAATAGATGACACATATAAGAATTTAAAACATCATATATGTGCTAAGTGAATTACATAAGCAATAATTGTTTGTTCCTTCATTCAACTTTTTTTTTGCCACTGGCTAATGGTGGTCCTAAGTTCCAAAATGATGGATCGCGGAGGTGAGATTCCAGGCCAGCTTTAAAATTCTGGAGCATCAGAAAGCCTGCTAACATGATGCCTACCATCTTCTACCCCTTCATTGGACTGCCAGCTAGTATCACCTCCCACCTCAGATGTCCACTCTATCCTAGCTACATCTCTCTCCATAGGCTCAGAGATCCCTGTAAGCGCACACGCGCGTGCGTGCACACATACACACACACAGAAACACGTGGGCCAGCCCCAAGTGTGTAAATTCTATTTCTTATCTTTTAAAAAAAGTAAAATTAAAAGCCTCCGCACTTTTCTAAGTAACTTTTCGGTACCGGTGGGCCTAGCTCCTTTTATATTAGCATCACAGGGCCAATGTGGTACCTGCAGTTGATGCTCTTATCCAAAGAAAGGCTTTCAGGTTCTGACCTCCTCCCCGTGCATTTATGAGTGTTTCCTCGTGTAGACAGAAGAGAGAGGAAATAATTTAGTTGCTACTGATAATCTCTGGTTTTGTATTGTTAAGTGATAGCTGCTTACTAAGCTGAGTAAGATAGAAATCATATCTTCAGGAATTCCAATATTCACCATCATTTTAAAAAACCATGGATGAGAAGGTCATTTGTGTTGGTCTCCATCAGTTGGTATATCTTATCATCACATGAAATGGAGGCTCATGTTGGTCTTAAAATGTTGAGATTTTACTACTCAAGACACCTAGAATAAATTGGGGTTGATGTCATAATGATCCCTGTTACATTATAACTAGGCCTTTACTACCAATTCCTTTGACCCTGCAGCCTGTAATAGGGTACGCTATCCTGACCCCTCCCTACCCCCACCAACCTTGGTTGTCAGGAAGGTGGTAGTGTGCTATTGATTTAATAAATATTTTTTCTTCATTTTTCCCTGTAGCGGTGGTTAATCTAATAAGTGAAGGTCTTATTATTTTGGCCACTGGCTGGGGTTGCCAGATTTGGCAAATAAAAATCTAGGATGCCTAGTGAAATTTGAGTTTCAGATAAACAACCAGGTTTTTTTTTTTTTTTTTTTTTTTTTTAGTGTAGATATGTCCTGTGCAATATTTGAAGTAGCATATGCTTATACTAAAAATTATTCATCATCTGAAATTAAATTTAACTGGGTGTCCTGTATTTATCTGGTGACCCTACCACAGGGAAAGTTTTACCTTTACCCTTTTGAAGGTGGGGCAGGATTTGAGAAGGGGACTTGGGGTGAAAGACCCCTTCATATTACCTTCTCAGCGCCAGACTGATGCCAGGAAGGCCAGACTCATGCCTGCGGTGCAGTGATTATTTGATGGGTCAGAAGACCCCTCAGTGCAGGACATAGAGAGCCCCCGTTCACCAGTTGTTAAGCTGCACCCCACAGCCTTTCCTAGCTTCGGGCTCCTAGTTCTGTGCCTTTCTGAGAAGATGTCAAGGGACAGCAGATACACAAGGCCCTTGGCCCAGTGCCTTTCAGCAGCCCTGGCACCGTGAGAACCCCTCCCCTCTTGGTCTGGTCCTTCAGAGCACACACAAGCTCCACCTTGGGCCCACGGAGGGGAGGGAGGCGCTGTAAACTGACACTTACGATGTCCCAGAGGAAGTTGGTCACCCAGTAGGTGGTGGGGCTCACTCCACTGATAAACTGGAGGTGCTTGGATTTGTTCACCCGCTCCTGGATCAAATAAAGGACAAAGCTGGCTGGGACGAAGGACCTGGAGAAAATCACGCAGATGGCAACCACAGCATCCACTGAAGTGGTCAGCCTGCAGCAGGGCCAGAGACACAGGGAGAGGGCGATGAAGAGGGAAGAGCAGAAGGAGGAGAAGATACAAAGTCAGGCTTTGGGAAGGCCTTACACCCGCCCAGGTGTGGCCTCCAGGTTCCTCTTCTCTACCTTGAAGCTGTCACTCCACTAAACTGTCTTAATCCATATGGACCAAGGTTAAATGGGTATTTGCGGGTTGCCTTTCTATTTCATGTGAATATTTCTAGACAACCTTTCTTTTTATTATATTCTCTAATTATTTTTATGGTGTATAGAAATAGATGTTTATATTAATCTTATGTACTGCAATGCTCTCATTAGCTCTAATAATCTGTCTATAGAGTCTCTTGAATTTTCTATGTTGACAGACATACGGTCTGTGAGATTTATCTTTTGTTAATAATCATCTTGTTAAATCACATTTTCAAGAAGTACATCGTAACACAAGGAAATGTTCATGATGTAAATTTAAGTGAAAAGAGGGCAGGCAAGTTGTACAGGGACTTGGCTCTATTTATTCTTTCCTCGGACAAATAGAAGGCATCTGGCTGAGGGGTAAGTTGGGGCTAAAGCCAGCCTGAACTTTATGTACAAGCCATAACCCCTGGCATGGGACAGTGTCCACCTGCAGAAAAGAGCATTTTTACTAATTTCCACAAAGGTATCCTATGTGGTAGTCACTACCTTGATAAAACTACAGATCATATCATCCATACACGTAGTAAGCTTAGAACAAATGACTGGAAGGAGACACACGAAAGTGTGGCTGAGTGAGAATTAACAGAGGACAGTCTAGGGCCCTAGGGTGTCCAGAGGAAGACACCAAGGAGCCAAGGCCCAGGTTTTAGTGGATGACCCTGGGCATGTTCACTGGCACTCAGCGTGTGCTAGGATAGTAAAATCAGGACCCCACAACGTTGCTGAAGTTTGCACTAACAAAGGTGCTCCTACCAACCCCTCCTCCATGTAGGCCTCAAATAGAGTGAACATACTACAAAACGCACAAGGCCACTGTCTCCACTGGCTGAAACTGTGCAAGAAGAGCCTCAGCTTGAGGGTAGCAAAGCTCTGTCGACATCTCCAAAGTATGCTCTTCTGAGGAAATTCCTGGAATCTAAGATAATTACTCCGAGGGAGCTGAAAGGTTTACTGAACTTTGCCAGTTCCTGGCAGCTGCTTTGCACATAGCAAAGATAATAATTGTATAAGCTCCAGGAGCAACTTGCTATCAAAAGCCAAAAGGGAATGGAACCAAATGTAAACTTACTTGCCACATAAATGTTGGGGAGAAAGAATGACCAAGAGGTCTGGTATGTGAAGTGTGAGGCACTTATTTGAAAGTCGGATGTTCATATGTGCCTGACTAAACAGCATTACCATCCAAATCAGCACTTCGCGGTGGTGAGAATCCTCTCAGGATGTTCAAAGAGTGGAGAAGGTGACAAGAAAGTGGTGAGGCTGGGGCTGTGGTGGCTTACACTGTAATCTCTGAGAGCTGCTCCTTGGTCAGGTTCAGGGGTTGGCTAATGACGGTGATTCCATACTCCTCGGGGCTCCTGTCCTTAGGCAGGCTGGCCCGTAAGATGGCGTTGTGGGCCACATTGAGAAAGCTGACCAGGGCATGCCAGCCTTTGTTATTAAACCACACCTAGAGGGTGGAGAGGACATCTGAGACGCTGCACTAACAGCTAGTTAAAGCAGAAATCAGTGAAGGAAAGGAAATTTGAGAAGCAGGAAGGGTTTGGTAGCTGGAAGACATTCCTTGCTAGATTTCAGCAGGAGGAGGGATGGAATTTAATGAAGGTAGGAAAGTAAAAATAAAATAACCAGCTCAGGTAAATTTTTAGCTCCAGAGCAGATTATACATAGGTCAAGTACCTTAATGTTGTCTTCAGTTTCTAGATGTTTAAGGAAATCAGGTATTTCTTTAGAGGCCTCTCTAGTGATAGGGCCCTAAAAACCATGTAAACAAACAAACAAGACGGTTTTAATTTT
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Task1_train_1163
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This is a variant in ABCA4, LOC126805793 (ATP binding cassette subfamily A member 4| CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:94486302-94487501), located on Chromosome 1. Is this mutation a likely cause of disease or not?
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Pathogenic; not provided
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CCTTCATATTACCTTCTCAGCGCCAGACTGATGCCAGGAAGGCCAGACTCATGCCTGCGGTGCAGTGATTATTTGATGGGTCAGAAGACCCCTCAGTGCAGGACATAGAGAGCCCCCGTTCACCAGTTGTTAAGCTGCACCCCACAGCCTTTCCTAGCTTCGGGCTCCTAGTTCTGTGCCTTTCTGAGAAGATGTCAAGGGACAGCAGATACACAAGGCCCTTGGCCCAGTGCCTTTCAGCAGCCCTGGCACCGTGAGAACCCCTCCCCTCTTGGTCTGGTCCTTCAGAGCACACACAAGCTCCACCTTGGGCCCACGGAGGGGAGGGAGGCGCTGTAAACTGACACTTACGATGTCCCAGAGGAAGTTGGTCACCCAGTAGGTGGTGGGGCTCACTCCACTGATAAACTGGAGGTGCTTGGATTTGTTCACCCGCTCCTGGATCAAATAAAGGACAAAGCTGGCTGGGACGAAGGACATGGAGAAAATCACGCAGATGGCAACCACAGCATCCACTGAAGTGGTCAGCCTGCAGCAGGGCCAGAGACACAGGGAGAGGGCGATGAAGAGGGAAGAGCAGAAGGAGGAGAAGATACAAAGTCAGGCTTTGGGAAGGCCTTACACCCGCCCAGGTGTGGCCTCCAGGTTCCTCTTCTCTACCTTGAAGCTGTCACTCCACTAAACTGTCTTAATCCATATGGACCAAGGTTAAATGGGTATTTGCGGGTTGCCTTTCTATTTCATGTGAATATTTCTAGACAACCTTTCTTTTTATTATATTCTCTAATTATTTTTATGGTGTATAGAAATAGATGTTTATATTAATCTTATGTACTGCAATGCTCTCATTAGCTCTAATAATCTGTCTATAGAGTCTCTTGAATTTTCTATGTTGACAGACATACGGTCTGTGAGATTTATCTTTTGTTAATAATCATCTTGTTAAATCACATTTTCAAGAAGTACATCGTAACACAAGGAAATGTTCATGATGTAAATTTAAGTGAAAAGAGGGCAGGCAAGTTGTACAGGGACTTGGCTCTATTTATTCTTTCCTCGGACAAATAGAAGGCATCTGGCTGAGGGGTAAGTTGGGGCTAAAGCCAGCCTGAACTTTATGTACAAGCCATAACCCCTGGCATGGGACAGTGTCCACCTGCAGAAAAGAGCATTTTTACTAATTTCCACAAAGGTATCCTATGTGGTAGTCACTACCTTGATAAAACTACAGATCATATCATCCATACACGTAGTAAGCTTAGAACAAATGACTGGAAGGAGACACACGAAAGTGTGGCTGAGTGAGAATTAACAGAGGACAGTCTAGGGCCCTAGGGTGTCCAGAGGAAGACACCAAGGAGCCAAGGCCCAGGTTTTAGTGGATGACCCTGGGCATGTTCACTGGCACTCAGCGTGTGCTAGGATAGTAAAATCAGGACCCCACAACGTTGCTGAAGTTTGCACTAACAAAGGTGCTCCTACCAACCCCTCCTCCATGTAGGCCTCAAATAGAGTGAACATACTACAAAACGCACAAGGCCACTGTCTCCACTGGCTGAAACTGTGCAAGAAGAGCCTCAGCTTGAGGGTAGCAAAGCTCTGTCGACATCTCCAAAGTATGCTCTTCTGAGGAAATTCCTGGAATCTAAGATAATTACTCCGAGGGAGCTGAAAGGTTTACTGAACTTTGCCAGTTCCTGGCAGCTGCTTTGCACATAGCAAAGATAATAATTGTATAAGCTCCAGGAGCAACTTGCTATCAAAAGCCAAAAGGGAATGGAACCAAATGTAAACTTACTTGCCACATAAATGTTGGGGAGAAAGAATGACCAAGAGGTCTGGTATGTGAAGTGTGAGGCACTTATTTGAAAGTCGGATGTTCATATGTGCCTGACTAAACAGCATTACCATCCAAATCAGCACTTCGCGGTGGTGAGAATCCTCTCAGGATGTTCAAAGAGTGGAGAAGGTGACAAGAAAGTGGTGAGGCTGGGGCTGTGGTGGCTTACACTGTAATCTCTGAGAGCTGCTCCTTGGTCAGGTTCAGGGGTTGGCTAATGACGGTGATTCCATACTCCTCGGGGCTCCTGTCCTTAGGCAGGCTGGCCCGTAAGATGGCGTTGTGGGCCACATTGAGAAAGCTGACCAGGGCATGCCAGCCTTTGTTATTAAACCACACCTAGAGGGTGGAGAGGACATCTGAGACGCTGCACTAACAGCTAGTTAAAGCAGAAATCAGTGAAGGAAAGGAAATTTGAGAAGCAGGAAGGGTTTGGTAGCTGGAAGACATTCCTTGCTAGATTTCAGCAGGAGGAGGGATGGAATTTAATGAAGGTAGGAAAGTAAAAATAAAATAACCAGCTCAGGTAAATTTTTAGCTCCAGAGCAGATTATACATAGGTCAAGTACCTTAATGTTGTCTTCAGTTTCTAGATGTTTAAGGAAATCAGGTATTTCTTTAGAGGCCTCTCTAGTGATAGGGCCCTAAAAACCATGTAAACAAACAAACAAGACGGTTTTAATTTTTTTTTCCTGTTATCACTCATGAGAGTTTCTCATTCATGGTAGTTAAGCAAGTCAAAAATCCTACTCAAATCTCCAGTCTGTTTACATACCCCGCTCACATTCATGATCCGGCCAAGGTCGCTTAAAAACCCAACAAGTGCTTCCCCCGTGATGGGGACGACTGGGAGCTTTCCTCCAATGGAAATTCCTCCATACCTGACAAGGAAACAGGAAATCCTCAGACCAGGGCCACGAACTTCACGCCTACTAGTAGCTCTCTCGGGTTTTGTAGGGAAACATGAACTTTCGGGGGAATTGCCTGGACCAGCGAGCAACATGGCTCCACTTTACAAACCAGCTTTTAACTCTTTTCCCACTGCTGCTGCCTCCAGGAAGGAGTCCAAACCCTCATCCTGGCCTCTGAGGCCCTTCTGCATCTGGTCTGTGCCCCTCTCCAACTTCATCCTTCCTCAGCCCTTCCCTGGAGTGGCCTATTCTGGACATATCGAGTCACTTCCAGAGCTCCTCATGGCCCAGACTGCCTGCATGTCTCTGCCTTTGCATGGCTGCTAGCTCCCCTCGGCACCTTTCCCTTTTGGGAGCATCGAGCCAACTCCAGGTCCTCTTTCACATGTCACATGTCATCTCCTCCCATCCCAGCCAAGGACTCCTTTTCTGTGCCACCTCTGTGCTTTGCAGGTACTTCTAGCAGCACAGGACCCATCTTCATCCTGTCATCCCTACCTCTCGGGGCTTCTGTGCCTCACACCTGTTCAGGGAGGCCCTTAGCCTCTCCTGCCTGGACTTGTGCTCTGCTTCTTCACTGGCCCTGGGATCTATCTCCTGTACTGCCCTGGAAGTCTGAAGTGACTGTGTGGAAACACCAGTCTGAGTGCATCACTCCCTGGCCTCAAACCCTTCAAAGGCAGGGCAGAAGCCAAAGTCAACAGAACAGAATGAATTAGCTGGTTATACCAAGCAGAGGAGGAGCTCTTTCTCAGGGCCTTGAATCACTGCCTCACTCCTACTCTCTGTCTCAGCCGAGGCCCCACAGGTCCCTCTGGAGAGCAATCCTGAAAGCCAGATTTCATGTGTACGGTCTAGAATCTGCCCAGGAAAGCACATACATGTCAGCCCCGCACCTGTTCTGGAGGTGCAGTTCCTGAGGGAGGCTGGGAGGCAGCAGGCTCCTAGAGTCCCACTTGGTGAGGTTCTAAACCTCTGGAAATATTTCAACCTCCAGGATGCCTCAGGAATGGGGTGAGTCTGGGGCTGGCCCACACTCCCTGAAGCTTAAAAGGAATGGGCCAAGGAGTGTCCCGGGTTTAGGCTACAAGGCCCTCTTGTTGGAGTATTATAAACTGTTATATACTTGGAGGTTTTAGAAGCTTTTTTTGGGTGAGAATGCTCTGAAACGCCACATCAGGGAATGCCACCCCCACTTATGTCCTCCAAGAAGAGGCACCACTGAGTGTCTTCTGAGTCTGGGATGTCCCTAGCCACATATTCTTCAGGACGTGTCTTGTGACTTCCTGAGCACCTACAGAACAGCCCCTCCTCATGGCTGTGAGGTGTGCCTTTTAAAAGTGTG
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CCTTCATATTACCTTCTCAGCGCCAGACTGATGCCAGGAAGGCCAGACTCATGCCTGCGGTGCAGTGATTATTTGATGGGTCAGAAGACCCCTCAGTGCAGGACATAGAGAGCCCCCGTTCACCAGTTGTTAAGCTGCACCCCACAGCCTTTCCTAGCTTCGGGCTCCTAGTTCTGTGCCTTTCTGAGAAGATGTCAAGGGACAGCAGATACACAAGGCCCTTGGCCCAGTGCCTTTCAGCAGCCCTGGCACCGTGAGAACCCCTCCCCTCTTGGTCTGGTCCTTCAGAGCACACACAAGCTCCACCTTGGGCCCACGGAGGGGAGGGAGGCGCTGTAAACTGACACTTACGATGTCCCAGAGGAAGTTGGTCACCCAGTAGGTGGTGGGGCTCACTCCACTGATAAACTGGAGGTGCTTGGATTTGTTCACCCGCTCCTGGATCAAATAAAGGACAAAGCTGGCTGGGACGAAGGACATGGAGAAAATCACGCAGATGGCAACCACAGCATCCACTGAAGTGGTCAGCCTGCAGCAGGGCCAGAGACACAGGGAGAGGGCGATGAAGAGGGAAGAGCAGAAGGAGGAGAAGATACAAAGTCAGGCTTTGGGAAGGCCTTACACCCGCCCAGGTGTGGCCTCCAGGTTCCTCTTCTCTACCTTGAAGCTGTCACTCCACTAAACTGTCTTAATCCATATGGACCAAGGTTAAATGGGTATTTGCGGGTTGCCTTTCTATTTCATGTGAATATTTCTAGACAACCTTTCTTTTTATTATATTCTCTAATTATTTTTATGGTGTATAGAAATAGATGTTTATATTAATCTTATGTACTGCAATGCTCTCATTAGCTCTAATAATCTGTCTATAGAGTCTCTTGAATTTTCTATGTTGACAGACATACGGTCTGTGAGATTTATCTTTTGTTAATAATCATCTTGTTAAATCACATTTTCAAGAAGTACATCGTAACACAAGGAAATGTTCATGATGTAAATTTAAGTGAAAAGAGGGCAGGCAAGTTGTACAGGGACTTGGCTCTATTTATTCTTTCCTCGGACAAATAGAAGGCATCTGGCTGAGGGGTAAGTTGGGGCTAAAGCCAGCCTGAACTTTATGTACAAGCCATAACCCCTGGCATGGGACAGTGTCCACCTGCAGAAAAGAGCATTTTTACTAATTTCCACAAAGGTATCCTATGTGGTAGTCACTACCTTGATAAAACTACAGATCATATCATCCATACACGTAGTAAGCTTAGAACAAATGACTGGAAGGAGACACACGAAAGTGTGGCTGAGTGAGAATTAACAGAGGACAGTCTAGGGCCCTAGGGTGTCCAGAGGAAGACACCAAGGAGCCAAGGCCCAGGTTTTAGTGGATGACCCTGGGCATGTTCACTGGCACTCAGCGTGTGCTAGGATAGTAAAATCAGGACCCCACAACGTTGCTGAAGTTTGCACTAACAAAGGTGCTCCTACCAACCCCTCCTCCATGTAGGCCTCAAATAGAGTGAACATACTACAAAACGCACAAGGCCACTGTCTCCACTGGCTGAAACTGTGCAAGAAGAGCCTCAGCTTGAGGGTAGCAAAGCTCTGTCGACATCTCCAAAGTATGCTCTTCTGAGGAAATTCCTGGAATCTAAGATAATTACTCCGAGGGAGCTGAAAGGTTTACTGAACTTTGCCAGTTCCTGGCAGCTGCTTTGCACATAGCAAAGATAATAATTGTATAAGCTCCAGGAGCAACTTGCTATCAAAAGCCAAAAGGGAATGGAACCAAATGTAAACTTACTTGCCACATAAATGTTGGGGAGAAAGAATGACCAAGAGGTCTGGTATGTGAAGTGTGAGGCACTTATTTGAAAGTCGGATGTTCATATGTGCCTGACTAAACAGCATTACCATCCAAATCAGCACTTCGCGGTGGTGAGAATCCTCTCAGGATGTTCAAAGAGTGGAGAAGGTGACAAGAAAGTGGTGAGGCTGGGGCTGTGGTGGCTTACACTGTAATCTCTGAGAGCTGCTCCTTGGTCAGGTTCAGGCGTTGGCTAATGACGGTGATTCCATACTCCTCGGGGCTCCTGTCCTTAGGCAGGCTGGCCCGTAAGATGGCGTTGTGGGCCACATTGAGAAAGCTGACCAGGGCATGCCAGCCTTTGTTATTAAACCACACCTAGAGGGTGGAGAGGACATCTGAGACGCTGCACTAACAGCTAGTTAAAGCAGAAATCAGTGAAGGAAAGGAAATTTGAGAAGCAGGAAGGGTTTGGTAGCTGGAAGACATTCCTTGCTAGATTTCAGCAGGAGGAGGGATGGAATTTAATGAAGGTAGGAAAGTAAAAATAAAATAACCAGCTCAGGTAAATTTTTAGCTCCAGAGCAGATTATACATAGGTCAAGTACCTTAATGTTGTCTTCAGTTTCTAGATGTTTAAGGAAATCAGGTATTTCTTTAGAGGCCTCTCTAGTGATAGGGCCCTAAAAACCATGTAAACAAACAAACAAGACGGTTTTAATTTTTTTTTCCTGTTATCACTCATGAGAGTTTCTCATTCATGGTAGTTAAGCAAGTCAAAAATCCTACTCAAATCTCCAGTCTGTTTACATACCCCGCTCACATTCATGATCCGGCCAAGGTCGCTTAAAAACCCAACAAGTGCTTCCCCCGTGATGGGGACGACTGGGAGCTTTCCTCCAATGGAAATTCCTCCATACCTGACAAGGAAACAGGAAATCCTCAGACCAGGGCCACGAACTTCACGCCTACTAGTAGCTCTCTCGGGTTTTGTAGGGAAACATGAACTTTCGGGGGAATTGCCTGGACCAGCGAGCAACATGGCTCCACTTTACAAACCAGCTTTTAACTCTTTTCCCACTGCTGCTGCCTCCAGGAAGGAGTCCAAACCCTCATCCTGGCCTCTGAGGCCCTTCTGCATCTGGTCTGTGCCCCTCTCCAACTTCATCCTTCCTCAGCCCTTCCCTGGAGTGGCCTATTCTGGACATATCGAGTCACTTCCAGAGCTCCTCATGGCCCAGACTGCCTGCATGTCTCTGCCTTTGCATGGCTGCTAGCTCCCCTCGGCACCTTTCCCTTTTGGGAGCATCGAGCCAACTCCAGGTCCTCTTTCACATGTCACATGTCATCTCCTCCCATCCCAGCCAAGGACTCCTTTTCTGTGCCACCTCTGTGCTTTGCAGGTACTTCTAGCAGCACAGGACCCATCTTCATCCTGTCATCCCTACCTCTCGGGGCTTCTGTGCCTCACACCTGTTCAGGGAGGCCCTTAGCCTCTCCTGCCTGGACTTGTGCTCTGCTTCTTCACTGGCCCTGGGATCTATCTCCTGTACTGCCCTGGAAGTCTGAAGTGACTGTGTGGAAACACCAGTCTGAGTGCATCACTCCCTGGCCTCAAACCCTTCAAAGGCAGGGCAGAAGCCAAAGTCAACAGAACAGAATGAATTAGCTGGTTATACCAAGCAGAGGAGGAGCTCTTTCTCAGGGCCTTGAATCACTGCCTCACTCCTACTCTCTGTCTCAGCCGAGGCCCCACAGGTCCCTCTGGAGAGCAATCCTGAAAGCCAGATTTCATGTGTACGGTCTAGAATCTGCCCAGGAAAGCACATACATGTCAGCCCCGCACCTGTTCTGGAGGTGCAGTTCCTGAGGGAGGCTGGGAGGCAGCAGGCTCCTAGAGTCCCACTTGGTGAGGTTCTAAACCTCTGGAAATATTTCAACCTCCAGGATGCCTCAGGAATGGGGTGAGTCTGGGGCTGGCCCACACTCCCTGAAGCTTAAAAGGAATGGGCCAAGGAGTGTCCCGGGTTTAGGCTACAAGGCCCTCTTGTTGGAGTATTATAAACTGTTATATACTTGGAGGTTTTAGAAGCTTTTTTTGGGTGAGAATGCTCTGAAACGCCACATCAGGGAATGCCACCCCCACTTATGTCCTCCAAGAAGAGGCACCACTGAGTGTCTTCTGAGTCTGGGATGTCCCTAGCCACATATTCTTCAGGACGTGTCTTGTGACTTCCTGAGCACCTACAGAACAGCCCCTCCTCATGGCTGTGAGGTGTGCCTTTTAAAAGTGTG
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Task1_train_1164
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A mutation in ABCA4, LOC126805793 (ATP binding cassette subfamily A member 4| CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:94486302-94487501), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; not provided
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GACTGATGCCAGGAAGGCCAGACTCATGCCTGCGGTGCAGTGATTATTTGATGGGTCAGAAGACCCCTCAGTGCAGGACATAGAGAGCCCCCGTTCACCAGTTGTTAAGCTGCACCCCACAGCCTTTCCTAGCTTCGGGCTCCTAGTTCTGTGCCTTTCTGAGAAGATGTCAAGGGACAGCAGATACACAAGGCCCTTGGCCCAGTGCCTTTCAGCAGCCCTGGCACCGTGAGAACCCCTCCCCTCTTGGTCTGGTCCTTCAGAGCACACACAAGCTCCACCTTGGGCCCACGGAGGGGAGGGAGGCGCTGTAAACTGACACTTACGATGTCCCAGAGGAAGTTGGTCACCCAGTAGGTGGTGGGGCTCACTCCACTGATAAACTGGAGGTGCTTGGATTTGTTCACCCGCTCCTGGATCAAATAAAGGACAAAGCTGGCTGGGACGAAGGACATGGAGAAAATCACGCAGATGGCAACCACAGCATCCACTGAAGTGGTCAGCCTGCAGCAGGGCCAGAGACACAGGGAGAGGGCGATGAAGAGGGAAGAGCAGAAGGAGGAGAAGATACAAAGTCAGGCTTTGGGAAGGCCTTACACCCGCCCAGGTGTGGCCTCCAGGTTCCTCTTCTCTACCTTGAAGCTGTCACTCCACTAAACTGTCTTAATCCATATGGACCAAGGTTAAATGGGTATTTGCGGGTTGCCTTTCTATTTCATGTGAATATTTCTAGACAACCTTTCTTTTTATTATATTCTCTAATTATTTTTATGGTGTATAGAAATAGATGTTTATATTAATCTTATGTACTGCAATGCTCTCATTAGCTCTAATAATCTGTCTATAGAGTCTCTTGAATTTTCTATGTTGACAGACATACGGTCTGTGAGATTTATCTTTTGTTAATAATCATCTTGTTAAATCACATTTTCAAGAAGTACATCGTAACACAAGGAAATGTTCATGATGTAAATTTAAGTGAAAAGAGGGCAGGCAAGTTGTACAGGGACTTGGCTCTATTTATTCTTTCCTCGGACAAATAGAAGGCATCTGGCTGAGGGGTAAGTTGGGGCTAAAGCCAGCCTGAACTTTATGTACAAGCCATAACCCCTGGCATGGGACAGTGTCCACCTGCAGAAAAGAGCATTTTTACTAATTTCCACAAAGGTATCCTATGTGGTAGTCACTACCTTGATAAAACTACAGATCATATCATCCATACACGTAGTAAGCTTAGAACAAATGACTGGAAGGAGACACACGAAAGTGTGGCTGAGTGAGAATTAACAGAGGACAGTCTAGGGCCCTAGGGTGTCCAGAGGAAGACACCAAGGAGCCAAGGCCCAGGTTTTAGTGGATGACCCTGGGCATGTTCACTGGCACTCAGCGTGTGCTAGGATAGTAAAATCAGGACCCCACAACGTTGCTGAAGTTTGCACTAACAAAGGTGCTCCTACCAACCCCTCCTCCATGTAGGCCTCAAATAGAGTGAACATACTACAAAACGCACAAGGCCACTGTCTCCACTGGCTGAAACTGTGCAAGAAGAGCCTCAGCTTGAGGGTAGCAAAGCTCTGTCGACATCTCCAAAGTATGCTCTTCTGAGGAAATTCCTGGAATCTAAGATAATTACTCCGAGGGAGCTGAAAGGTTTACTGAACTTTGCCAGTTCCTGGCAGCTGCTTTGCACATAGCAAAGATAATAATTGTATAAGCTCCAGGAGCAACTTGCTATCAAAAGCCAAAAGGGAATGGAACCAAATGTAAACTTACTTGCCACATAAATGTTGGGGAGAAAGAATGACCAAGAGGTCTGGTATGTGAAGTGTGAGGCACTTATTTGAAAGTCGGATGTTCATATGTGCCTGACTAAACAGCATTACCATCCAAATCAGCACTTCGCGGTGGTGAGAATCCTCTCAGGATGTTCAAAGAGTGGAGAAGGTGACAAGAAAGTGGTGAGGCTGGGGCTGTGGTGGCTTACACTGTAATCTCTGAGAGCTGCTCCTTGGTCAGGTTCAGGGGTTGGCTAATGACGGTGATTCCATACTCCTCGGGGCTCCTGTCCTTAGGCAGGCTGGCCCGTAAGATGGCGTTGTGGGCCACATTGAGAAAGCTGACCAGGGCATGCCAGCCTTTGTTATTAAACCACACCTAGAGGGTGGAGAGGACATCTGAGACGCTGCACTAACAGCTAGTTAAAGCAGAAATCAGTGAAGGAAAGGAAATTTGAGAAGCAGGAAGGGTTTGGTAGCTGGAAGACATTCCTTGCTAGATTTCAGCAGGAGGAGGGATGGAATTTAATGAAGGTAGGAAAGTAAAAATAAAATAACCAGCTCAGGTAAATTTTTAGCTCCAGAGCAGATTATACATAGGTCAAGTACCTTAATGTTGTCTTCAGTTTCTAGATGTTTAAGGAAATCAGGTATTTCTTTAGAGGCCTCTCTAGTGATAGGGCCCTAAAAACCATGTAAACAAACAAACAAGACGGTTTTAATTTTTTTTTCCTGTTATCACTCATGAGAGTTTCTCATTCATGGTAGTTAAGCAAGTCAAAAATCCTACTCAAATCTCCAGTCTGTTTACATACCCCGCTCACATTCATGATCCGGCCAAGGTCGCTTAAAAACCCAACAAGTGCTTCCCCCGTGATGGGGACGACTGGGAGCTTTCCTCCAATGGAAATTCCTCCATACCTGACAAGGAAACAGGAAATCCTCAGACCAGGGCCACGAACTTCACGCCTACTAGTAGCTCTCTCGGGTTTTGTAGGGAAACATGAACTTTCGGGGGAATTGCCTGGACCAGCGAGCAACATGGCTCCACTTTACAAACCAGCTTTTAACTCTTTTCCCACTGCTGCTGCCTCCAGGAAGGAGTCCAAACCCTCATCCTGGCCTCTGAGGCCCTTCTGCATCTGGTCTGTGCCCCTCTCCAACTTCATCCTTCCTCAGCCCTTCCCTGGAGTGGCCTATTCTGGACATATCGAGTCACTTCCAGAGCTCCTCATGGCCCAGACTGCCTGCATGTCTCTGCCTTTGCATGGCTGCTAGCTCCCCTCGGCACCTTTCCCTTTTGGGAGCATCGAGCCAACTCCAGGTCCTCTTTCACATGTCACATGTCATCTCCTCCCATCCCAGCCAAGGACTCCTTTTCTGTGCCACCTCTGTGCTTTGCAGGTACTTCTAGCAGCACAGGACCCATCTTCATCCTGTCATCCCTACCTCTCGGGGCTTCTGTGCCTCACACCTGTTCAGGGAGGCCCTTAGCCTCTCCTGCCTGGACTTGTGCTCTGCTTCTTCACTGGCCCTGGGATCTATCTCCTGTACTGCCCTGGAAGTCTGAAGTGACTGTGTGGAAACACCAGTCTGAGTGCATCACTCCCTGGCCTCAAACCCTTCAAAGGCAGGGCAGAAGCCAAAGTCAACAGAACAGAATGAATTAGCTGGTTATACCAAGCAGAGGAGGAGCTCTTTCTCAGGGCCTTGAATCACTGCCTCACTCCTACTCTCTGTCTCAGCCGAGGCCCCACAGGTCCCTCTGGAGAGCAATCCTGAAAGCCAGATTTCATGTGTACGGTCTAGAATCTGCCCAGGAAAGCACATACATGTCAGCCCCGCACCTGTTCTGGAGGTGCAGTTCCTGAGGGAGGCTGGGAGGCAGCAGGCTCCTAGAGTCCCACTTGGTGAGGTTCTAAACCTCTGGAAATATTTCAACCTCCAGGATGCCTCAGGAATGGGGTGAGTCTGGGGCTGGCCCACACTCCCTGAAGCTTAAAAGGAATGGGCCAAGGAGTGTCCCGGGTTTAGGCTACAAGGCCCTCTTGTTGGAGTATTATAAACTGTTATATACTTGGAGGTTTTAGAAGCTTTTTTTGGGTGAGAATGCTCTGAAACGCCACATCAGGGAATGCCACCCCCACTTATGTCCTCCAAGAAGAGGCACCACTGAGTGTCTTCTGAGTCTGGGATGTCCCTAGCCACATATTCTTCAGGACGTGTCTTGTGACTTCCTGAGCACCTACAGAACAGCCCCTCCTCATGGCTGTGAGGTGTGCCTTTTAAAAGTGTGCAATTATTTCAACAATGAATCAATC
|
GACTGATGCCAGGAAGGCCAGACTCATGCCTGCGGTGCAGTGATTATTTGATGGGTCAGAAGACCCCTCAGTGCAGGACATAGAGAGCCCCCGTTCACCAGTTGTTAAGCTGCACCCCACAGCCTTTCCTAGCTTCGGGCTCCTAGTTCTGTGCCTTTCTGAGAAGATGTCAAGGGACAGCAGATACACAAGGCCCTTGGCCCAGTGCCTTTCAGCAGCCCTGGCACCGTGAGAACCCCTCCCCTCTTGGTCTGGTCCTTCAGAGCACACACAAGCTCCACCTTGGGCCCACGGAGGGGAGGGAGGCGCTGTAAACTGACACTTACGATGTCCCAGAGGAAGTTGGTCACCCAGTAGGTGGTGGGGCTCACTCCACTGATAAACTGGAGGTGCTTGGATTTGTTCACCCGCTCCTGGATCAAATAAAGGACAAAGCTGGCTGGGACGAAGGACATGGAGAAAATCACGCAGATGGCAACCACAGCATCCACTGAAGTGGTCAGCCTGCAGCAGGGCCAGAGACACAGGGAGAGGGCGATGAAGAGGGAAGAGCAGAAGGAGGAGAAGATACAAAGTCAGGCTTTGGGAAGGCCTTACACCCGCCCAGGTGTGGCCTCCAGGTTCCTCTTCTCTACCTTGAAGCTGTCACTCCACTAAACTGTCTTAATCCATATGGACCAAGGTTAAATGGGTATTTGCGGGTTGCCTTTCTATTTCATGTGAATATTTCTAGACAACCTTTCTTTTTATTATATTCTCTAATTATTTTTATGGTGTATAGAAATAGATGTTTATATTAATCTTATGTACTGCAATGCTCTCATTAGCTCTAATAATCTGTCTATAGAGTCTCTTGAATTTTCTATGTTGACAGACATACGGTCTGTGAGATTTATCTTTTGTTAATAATCATCTTGTTAAATCACATTTTCAAGAAGTACATCGTAACACAAGGAAATGTTCATGATGTAAATTTAAGTGAAAAGAGGGCAGGCAAGTTGTACAGGGACTTGGCTCTATTTATTCTTTCCTCGGACAAATAGAAGGCATCTGGCTGAGGGGTAAGTTGGGGCTAAAGCCAGCCTGAACTTTATGTACAAGCCATAACCCCTGGCATGGGACAGTGTCCACCTGCAGAAAAGAGCATTTTTACTAATTTCCACAAAGGTATCCTATGTGGTAGTCACTACCTTGATAAAACTACAGATCATATCATCCATACACGTAGTAAGCTTAGAACAAATGACTGGAAGGAGACACACGAAAGTGTGGCTGAGTGAGAATTAACAGAGGACAGTCTAGGGCCCTAGGGTGTCCAGAGGAAGACACCAAGGAGCCAAGGCCCAGGTTTTAGTGGATGACCCTGGGCATGTTCACTGGCACTCAGCGTGTGCTAGGATAGTAAAATCAGGACCCCACAACGTTGCTGAAGTTTGCACTAACAAAGGTGCTCCTACCAACCCCTCCTCCATGTAGGCCTCAAATAGAGTGAACATACTACAAAACGCACAAGGCCACTGTCTCCACTGGCTGAAACTGTGCAAGAAGAGCCTCAGCTTGAGGGTAGCAAAGCTCTGTCGACATCTCCAAAGTATGCTCTTCTGAGGAAATTCCTGGAATCTAAGATAATTACTCCGAGGGAGCTGAAAGGTTTACTGAACTTTGCCAGTTCCTGGCAGCTGCTTTGCACATAGCAAAGATAATAATTGTATAAGCTCCAGGAGCAACTTGCTATCAAAAGCCAAAAGGGAATGGAACCAAATGTAAACTTACTTGCCACATAAATGTTGGGGAGAAAGAATGACCAAGAGGTCTGGTATGTGAAGTGTGAGGCACTTATTTGAAAGTCGGATGTTCATATGTGCCTGACTAAACAGCATTACCATCCAAATCAGCACTTCGCGGTGGTGAGAATCCTCTCAGGATGTTCAAAGAGTGGAGAAGGTGACAAGAAAGTGGTGAGGCTGGGGCTGTGGTGGCTTACACTGTAATCTCTGAGAGCTGCTCCTTGGTCAGGTTCAGGGGTTGGCTAATGACGGTGATTCCATCCTCCTCGGGGCTCCTGTCCTTAGGCAGGCTGGCCCGTAAGATGGCGTTGTGGGCCACATTGAGAAAGCTGACCAGGGCATGCCAGCCTTTGTTATTAAACCACACCTAGAGGGTGGAGAGGACATCTGAGACGCTGCACTAACAGCTAGTTAAAGCAGAAATCAGTGAAGGAAAGGAAATTTGAGAAGCAGGAAGGGTTTGGTAGCTGGAAGACATTCCTTGCTAGATTTCAGCAGGAGGAGGGATGGAATTTAATGAAGGTAGGAAAGTAAAAATAAAATAACCAGCTCAGGTAAATTTTTAGCTCCAGAGCAGATTATACATAGGTCAAGTACCTTAATGTTGTCTTCAGTTTCTAGATGTTTAAGGAAATCAGGTATTTCTTTAGAGGCCTCTCTAGTGATAGGGCCCTAAAAACCATGTAAACAAACAAACAAGACGGTTTTAATTTTTTTTTCCTGTTATCACTCATGAGAGTTTCTCATTCATGGTAGTTAAGCAAGTCAAAAATCCTACTCAAATCTCCAGTCTGTTTACATACCCCGCTCACATTCATGATCCGGCCAAGGTCGCTTAAAAACCCAACAAGTGCTTCCCCCGTGATGGGGACGACTGGGAGCTTTCCTCCAATGGAAATTCCTCCATACCTGACAAGGAAACAGGAAATCCTCAGACCAGGGCCACGAACTTCACGCCTACTAGTAGCTCTCTCGGGTTTTGTAGGGAAACATGAACTTTCGGGGGAATTGCCTGGACCAGCGAGCAACATGGCTCCACTTTACAAACCAGCTTTTAACTCTTTTCCCACTGCTGCTGCCTCCAGGAAGGAGTCCAAACCCTCATCCTGGCCTCTGAGGCCCTTCTGCATCTGGTCTGTGCCCCTCTCCAACTTCATCCTTCCTCAGCCCTTCCCTGGAGTGGCCTATTCTGGACATATCGAGTCACTTCCAGAGCTCCTCATGGCCCAGACTGCCTGCATGTCTCTGCCTTTGCATGGCTGCTAGCTCCCCTCGGCACCTTTCCCTTTTGGGAGCATCGAGCCAACTCCAGGTCCTCTTTCACATGTCACATGTCATCTCCTCCCATCCCAGCCAAGGACTCCTTTTCTGTGCCACCTCTGTGCTTTGCAGGTACTTCTAGCAGCACAGGACCCATCTTCATCCTGTCATCCCTACCTCTCGGGGCTTCTGTGCCTCACACCTGTTCAGGGAGGCCCTTAGCCTCTCCTGCCTGGACTTGTGCTCTGCTTCTTCACTGGCCCTGGGATCTATCTCCTGTACTGCCCTGGAAGTCTGAAGTGACTGTGTGGAAACACCAGTCTGAGTGCATCACTCCCTGGCCTCAAACCCTTCAAAGGCAGGGCAGAAGCCAAAGTCAACAGAACAGAATGAATTAGCTGGTTATACCAAGCAGAGGAGGAGCTCTTTCTCAGGGCCTTGAATCACTGCCTCACTCCTACTCTCTGTCTCAGCCGAGGCCCCACAGGTCCCTCTGGAGAGCAATCCTGAAAGCCAGATTTCATGTGTACGGTCTAGAATCTGCCCAGGAAAGCACATACATGTCAGCCCCGCACCTGTTCTGGAGGTGCAGTTCCTGAGGGAGGCTGGGAGGCAGCAGGCTCCTAGAGTCCCACTTGGTGAGGTTCTAAACCTCTGGAAATATTTCAACCTCCAGGATGCCTCAGGAATGGGGTGAGTCTGGGGCTGGCCCACACTCCCTGAAGCTTAAAAGGAATGGGCCAAGGAGTGTCCCGGGTTTAGGCTACAAGGCCCTCTTGTTGGAGTATTATAAACTGTTATATACTTGGAGGTTTTAGAAGCTTTTTTTGGGTGAGAATGCTCTGAAACGCCACATCAGGGAATGCCACCCCCACTTATGTCCTCCAAGAAGAGGCACCACTGAGTGTCTTCTGAGTCTGGGATGTCCCTAGCCACATATTCTTCAGGACGTGTCTTGTGACTTCCTGAGCACCTACAGAACAGCCCCTCCTCATGGCTGTGAGGTGTGCCTTTTAAAAGTGTGCAATTATTTCAACAATGAATCAATC
|
Task1_train_1165
|
A genetic alteration is present in ABCA4, LOC126805793 (ATP binding cassette subfamily A member 4| CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:94486302-94487501) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved?
|
Pathogenic; not provided
|
TAGAGAGCCCCCGTTCACCAGTTGTTAAGCTGCACCCCACAGCCTTTCCTAGCTTCGGGCTCCTAGTTCTGTGCCTTTCTGAGAAGATGTCAAGGGACAGCAGATACACAAGGCCCTTGGCCCAGTGCCTTTCAGCAGCCCTGGCACCGTGAGAACCCCTCCCCTCTTGGTCTGGTCCTTCAGAGCACACACAAGCTCCACCTTGGGCCCACGGAGGGGAGGGAGGCGCTGTAAACTGACACTTACGATGTCCCAGAGGAAGTTGGTCACCCAGTAGGTGGTGGGGCTCACTCCACTGATAAACTGGAGGTGCTTGGATTTGTTCACCCGCTCCTGGATCAAATAAAGGACAAAGCTGGCTGGGACGAAGGACATGGAGAAAATCACGCAGATGGCAACCACAGCATCCACTGAAGTGGTCAGCCTGCAGCAGGGCCAGAGACACAGGGAGAGGGCGATGAAGAGGGAAGAGCAGAAGGAGGAGAAGATACAAAGTCAGGCTTTGGGAAGGCCTTACACCCGCCCAGGTGTGGCCTCCAGGTTCCTCTTCTCTACCTTGAAGCTGTCACTCCACTAAACTGTCTTAATCCATATGGACCAAGGTTAAATGGGTATTTGCGGGTTGCCTTTCTATTTCATGTGAATATTTCTAGACAACCTTTCTTTTTATTATATTCTCTAATTATTTTTATGGTGTATAGAAATAGATGTTTATATTAATCTTATGTACTGCAATGCTCTCATTAGCTCTAATAATCTGTCTATAGAGTCTCTTGAATTTTCTATGTTGACAGACATACGGTCTGTGAGATTTATCTTTTGTTAATAATCATCTTGTTAAATCACATTTTCAAGAAGTACATCGTAACACAAGGAAATGTTCATGATGTAAATTTAAGTGAAAAGAGGGCAGGCAAGTTGTACAGGGACTTGGCTCTATTTATTCTTTCCTCGGACAAATAGAAGGCATCTGGCTGAGGGGTAAGTTGGGGCTAAAGCCAGCCTGAACTTTATGTACAAGCCATAACCCCTGGCATGGGACAGTGTCCACCTGCAGAAAAGAGCATTTTTACTAATTTCCACAAAGGTATCCTATGTGGTAGTCACTACCTTGATAAAACTACAGATCATATCATCCATACACGTAGTAAGCTTAGAACAAATGACTGGAAGGAGACACACGAAAGTGTGGCTGAGTGAGAATTAACAGAGGACAGTCTAGGGCCCTAGGGTGTCCAGAGGAAGACACCAAGGAGCCAAGGCCCAGGTTTTAGTGGATGACCCTGGGCATGTTCACTGGCACTCAGCGTGTGCTAGGATAGTAAAATCAGGACCCCACAACGTTGCTGAAGTTTGCACTAACAAAGGTGCTCCTACCAACCCCTCCTCCATGTAGGCCTCAAATAGAGTGAACATACTACAAAACGCACAAGGCCACTGTCTCCACTGGCTGAAACTGTGCAAGAAGAGCCTCAGCTTGAGGGTAGCAAAGCTCTGTCGACATCTCCAAAGTATGCTCTTCTGAGGAAATTCCTGGAATCTAAGATAATTACTCCGAGGGAGCTGAAAGGTTTACTGAACTTTGCCAGTTCCTGGCAGCTGCTTTGCACATAGCAAAGATAATAATTGTATAAGCTCCAGGAGCAACTTGCTATCAAAAGCCAAAAGGGAATGGAACCAAATGTAAACTTACTTGCCACATAAATGTTGGGGAGAAAGAATGACCAAGAGGTCTGGTATGTGAAGTGTGAGGCACTTATTTGAAAGTCGGATGTTCATATGTGCCTGACTAAACAGCATTACCATCCAAATCAGCACTTCGCGGTGGTGAGAATCCTCTCAGGATGTTCAAAGAGTGGAGAAGGTGACAAGAAAGTGGTGAGGCTGGGGCTGTGGTGGCTTACACTGTAATCTCTGAGAGCTGCTCCTTGGTCAGGTTCAGGGGTTGGCTAATGACGGTGATTCCATACTCCTCGGGGCTCCTGTCCTTAGGCAGGCTGGCCCGTAAGATGGCGTTGTGGGCCACATTGAGAAAGCTGACCAGGGCATGCCAGCCTTTGTTATTAAACCACACCTAGAGGGTGGAGAGGACATCTGAGACGCTGCACTAACAGCTAGTTAAAGCAGAAATCAGTGAAGGAAAGGAAATTTGAGAAGCAGGAAGGGTTTGGTAGCTGGAAGACATTCCTTGCTAGATTTCAGCAGGAGGAGGGATGGAATTTAATGAAGGTAGGAAAGTAAAAATAAAATAACCAGCTCAGGTAAATTTTTAGCTCCAGAGCAGATTATACATAGGTCAAGTACCTTAATGTTGTCTTCAGTTTCTAGATGTTTAAGGAAATCAGGTATTTCTTTAGAGGCCTCTCTAGTGATAGGGCCCTAAAAACCATGTAAACAAACAAACAAGACGGTTTTAATTTTTTTTTCCTGTTATCACTCATGAGAGTTTCTCATTCATGGTAGTTAAGCAAGTCAAAAATCCTACTCAAATCTCCAGTCTGTTTACATACCCCGCTCACATTCATGATCCGGCCAAGGTCGCTTAAAAACCCAACAAGTGCTTCCCCCGTGATGGGGACGACTGGGAGCTTTCCTCCAATGGAAATTCCTCCATACCTGACAAGGAAACAGGAAATCCTCAGACCAGGGCCACGAACTTCACGCCTACTAGTAGCTCTCTCGGGTTTTGTAGGGAAACATGAACTTTCGGGGGAATTGCCTGGACCAGCGAGCAACATGGCTCCACTTTACAAACCAGCTTTTAACTCTTTTCCCACTGCTGCTGCCTCCAGGAAGGAGTCCAAACCCTCATCCTGGCCTCTGAGGCCCTTCTGCATCTGGTCTGTGCCCCTCTCCAACTTCATCCTTCCTCAGCCCTTCCCTGGAGTGGCCTATTCTGGACATATCGAGTCACTTCCAGAGCTCCTCATGGCCCAGACTGCCTGCATGTCTCTGCCTTTGCATGGCTGCTAGCTCCCCTCGGCACCTTTCCCTTTTGGGAGCATCGAGCCAACTCCAGGTCCTCTTTCACATGTCACATGTCATCTCCTCCCATCCCAGCCAAGGACTCCTTTTCTGTGCCACCTCTGTGCTTTGCAGGTACTTCTAGCAGCACAGGACCCATCTTCATCCTGTCATCCCTACCTCTCGGGGCTTCTGTGCCTCACACCTGTTCAGGGAGGCCCTTAGCCTCTCCTGCCTGGACTTGTGCTCTGCTTCTTCACTGGCCCTGGGATCTATCTCCTGTACTGCCCTGGAAGTCTGAAGTGACTGTGTGGAAACACCAGTCTGAGTGCATCACTCCCTGGCCTCAAACCCTTCAAAGGCAGGGCAGAAGCCAAAGTCAACAGAACAGAATGAATTAGCTGGTTATACCAAGCAGAGGAGGAGCTCTTTCTCAGGGCCTTGAATCACTGCCTCACTCCTACTCTCTGTCTCAGCCGAGGCCCCACAGGTCCCTCTGGAGAGCAATCCTGAAAGCCAGATTTCATGTGTACGGTCTAGAATCTGCCCAGGAAAGCACATACATGTCAGCCCCGCACCTGTTCTGGAGGTGCAGTTCCTGAGGGAGGCTGGGAGGCAGCAGGCTCCTAGAGTCCCACTTGGTGAGGTTCTAAACCTCTGGAAATATTTCAACCTCCAGGATGCCTCAGGAATGGGGTGAGTCTGGGGCTGGCCCACACTCCCTGAAGCTTAAAAGGAATGGGCCAAGGAGTGTCCCGGGTTTAGGCTACAAGGCCCTCTTGTTGGAGTATTATAAACTGTTATATACTTGGAGGTTTTAGAAGCTTTTTTTGGGTGAGAATGCTCTGAAACGCCACATCAGGGAATGCCACCCCCACTTATGTCCTCCAAGAAGAGGCACCACTGAGTGTCTTCTGAGTCTGGGATGTCCCTAGCCACATATTCTTCAGGACGTGTCTTGTGACTTCCTGAGCACCTACAGAACAGCCCCTCCTCATGGCTGTGAGGTGTGCCTTTTAAAAGTGTGCAATTATTTCAACAATGAATCAATCTGAGATTTTAATTCTGATAAAAATAGTTTCTTACCTCTGTTCATTGACCCAGAATTTGCTCTTTAAGCTGAAAGCCAAAA
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TAGAGAGCCCCCGTTCACCAGTTGTTAAGCTGCACCCCACAGCCTTTCCTAGCTTCGGGCTCCTAGTTCTGTGCCTTTCTGAGAAGATGTCAAGGGACAGCAGATACACAAGGCCCTTGGCCCAGTGCCTTTCAGCAGCCCTGGCACCGTGAGAACCCCTCCCCTCTTGGTCTGGTCCTTCAGAGCACACACAAGCTCCACCTTGGGCCCACGGAGGGGAGGGAGGCGCTGTAAACTGACACTTACGATGTCCCAGAGGAAGTTGGTCACCCAGTAGGTGGTGGGGCTCACTCCACTGATAAACTGGAGGTGCTTGGATTTGTTCACCCGCTCCTGGATCAAATAAAGGACAAAGCTGGCTGGGACGAAGGACATGGAGAAAATCACGCAGATGGCAACCACAGCATCCACTGAAGTGGTCAGCCTGCAGCAGGGCCAGAGACACAGGGAGAGGGCGATGAAGAGGGAAGAGCAGAAGGAGGAGAAGATACAAAGTCAGGCTTTGGGAAGGCCTTACACCCGCCCAGGTGTGGCCTCCAGGTTCCTCTTCTCTACCTTGAAGCTGTCACTCCACTAAACTGTCTTAATCCATATGGACCAAGGTTAAATGGGTATTTGCGGGTTGCCTTTCTATTTCATGTGAATATTTCTAGACAACCTTTCTTTTTATTATATTCTCTAATTATTTTTATGGTGTATAGAAATAGATGTTTATATTAATCTTATGTACTGCAATGCTCTCATTAGCTCTAATAATCTGTCTATAGAGTCTCTTGAATTTTCTATGTTGACAGACATACGGTCTGTGAGATTTATCTTTTGTTAATAATCATCTTGTTAAATCACATTTTCAAGAAGTACATCGTAACACAAGGAAATGTTCATGATGTAAATTTAAGTGAAAAGAGGGCAGGCAAGTTGTACAGGGACTTGGCTCTATTTATTCTTTCCTCGGACAAATAGAAGGCATCTGGCTGAGGGGTAAGTTGGGGCTAAAGCCAGCCTGAACTTTATGTACAAGCCATAACCCCTGGCATGGGACAGTGTCCACCTGCAGAAAAGAGCATTTTTACTAATTTCCACAAAGGTATCCTATGTGGTAGTCACTACCTTGATAAAACTACAGATCATATCATCCATACACGTAGTAAGCTTAGAACAAATGACTGGAAGGAGACACACGAAAGTGTGGCTGAGTGAGAATTAACAGAGGACAGTCTAGGGCCCTAGGGTGTCCAGAGGAAGACACCAAGGAGCCAAGGCCCAGGTTTTAGTGGATGACCCTGGGCATGTTCACTGGCACTCAGCGTGTGCTAGGATAGTAAAATCAGGACCCCACAACGTTGCTGAAGTTTGCACTAACAAAGGTGCTCCTACCAACCCCTCCTCCATGTAGGCCTCAAATAGAGTGAACATACTACAAAACGCACAAGGCCACTGTCTCCACTGGCTGAAACTGTGCAAGAAGAGCCTCAGCTTGAGGGTAGCAAAGCTCTGTCGACATCTCCAAAGTATGCTCTTCTGAGGAAATTCCTGGAATCTAAGATAATTACTCCGAGGGAGCTGAAAGGTTTACTGAACTTTGCCAGTTCCTGGCAGCTGCTTTGCACATAGCAAAGATAATAATTGTATAAGCTCCAGGAGCAACTTGCTATCAAAAGCCAAAAGGGAATGGAACCAAATGTAAACTTACTTGCCACATAAATGTTGGGGAGAAAGAATGACCAAGAGGTCTGGTATGTGAAGTGTGAGGCACTTATTTGAAAGTCGGATGTTCATATGTGCCTGACTAAACAGCATTACCATCCAAATCAGCACTTCGCGGTGGTGAGAATCCTCTCAGGATGTTCAAAGAGTGGAGAAGGTGACAAGAAAGTGGTGAGGCTGGGGCTGTGGTGGCTTACACTGTAATCTCTGAGAGCTGCTCCTTGGTCAGGTTCAGGGGTTGGCTAATGACGGTGATTCCATACTCCTCGGGGCTCCTGTCCTTAGGCAGGCTGGCCCGTAAGATGGCGTTGTGGGCCACATTGAGAAAGCTGACCAGGGCACGCCAGCCTTTGTTATTAAACCACACCTAGAGGGTGGAGAGGACATCTGAGACGCTGCACTAACAGCTAGTTAAAGCAGAAATCAGTGAAGGAAAGGAAATTTGAGAAGCAGGAAGGGTTTGGTAGCTGGAAGACATTCCTTGCTAGATTTCAGCAGGAGGAGGGATGGAATTTAATGAAGGTAGGAAAGTAAAAATAAAATAACCAGCTCAGGTAAATTTTTAGCTCCAGAGCAGATTATACATAGGTCAAGTACCTTAATGTTGTCTTCAGTTTCTAGATGTTTAAGGAAATCAGGTATTTCTTTAGAGGCCTCTCTAGTGATAGGGCCCTAAAAACCATGTAAACAAACAAACAAGACGGTTTTAATTTTTTTTTCCTGTTATCACTCATGAGAGTTTCTCATTCATGGTAGTTAAGCAAGTCAAAAATCCTACTCAAATCTCCAGTCTGTTTACATACCCCGCTCACATTCATGATCCGGCCAAGGTCGCTTAAAAACCCAACAAGTGCTTCCCCCGTGATGGGGACGACTGGGAGCTTTCCTCCAATGGAAATTCCTCCATACCTGACAAGGAAACAGGAAATCCTCAGACCAGGGCCACGAACTTCACGCCTACTAGTAGCTCTCTCGGGTTTTGTAGGGAAACATGAACTTTCGGGGGAATTGCCTGGACCAGCGAGCAACATGGCTCCACTTTACAAACCAGCTTTTAACTCTTTTCCCACTGCTGCTGCCTCCAGGAAGGAGTCCAAACCCTCATCCTGGCCTCTGAGGCCCTTCTGCATCTGGTCTGTGCCCCTCTCCAACTTCATCCTTCCTCAGCCCTTCCCTGGAGTGGCCTATTCTGGACATATCGAGTCACTTCCAGAGCTCCTCATGGCCCAGACTGCCTGCATGTCTCTGCCTTTGCATGGCTGCTAGCTCCCCTCGGCACCTTTCCCTTTTGGGAGCATCGAGCCAACTCCAGGTCCTCTTTCACATGTCACATGTCATCTCCTCCCATCCCAGCCAAGGACTCCTTTTCTGTGCCACCTCTGTGCTTTGCAGGTACTTCTAGCAGCACAGGACCCATCTTCATCCTGTCATCCCTACCTCTCGGGGCTTCTGTGCCTCACACCTGTTCAGGGAGGCCCTTAGCCTCTCCTGCCTGGACTTGTGCTCTGCTTCTTCACTGGCCCTGGGATCTATCTCCTGTACTGCCCTGGAAGTCTGAAGTGACTGTGTGGAAACACCAGTCTGAGTGCATCACTCCCTGGCCTCAAACCCTTCAAAGGCAGGGCAGAAGCCAAAGTCAACAGAACAGAATGAATTAGCTGGTTATACCAAGCAGAGGAGGAGCTCTTTCTCAGGGCCTTGAATCACTGCCTCACTCCTACTCTCTGTCTCAGCCGAGGCCCCACAGGTCCCTCTGGAGAGCAATCCTGAAAGCCAGATTTCATGTGTACGGTCTAGAATCTGCCCAGGAAAGCACATACATGTCAGCCCCGCACCTGTTCTGGAGGTGCAGTTCCTGAGGGAGGCTGGGAGGCAGCAGGCTCCTAGAGTCCCACTTGGTGAGGTTCTAAACCTCTGGAAATATTTCAACCTCCAGGATGCCTCAGGAATGGGGTGAGTCTGGGGCTGGCCCACACTCCCTGAAGCTTAAAAGGAATGGGCCAAGGAGTGTCCCGGGTTTAGGCTACAAGGCCCTCTTGTTGGAGTATTATAAACTGTTATATACTTGGAGGTTTTAGAAGCTTTTTTTGGGTGAGAATGCTCTGAAACGCCACATCAGGGAATGCCACCCCCACTTATGTCCTCCAAGAAGAGGCACCACTGAGTGTCTTCTGAGTCTGGGATGTCCCTAGCCACATATTCTTCAGGACGTGTCTTGTGACTTCCTGAGCACCTACAGAACAGCCCCTCCTCATGGCTGTGAGGTGTGCCTTTTAAAAGTGTGCAATTATTTCAACAATGAATCAATCTGAGATTTTAATTCTGATAAAAATAGTTTCTTACCTCTGTTCATTGACCCAGAATTTGCTCTTTAAGCTGAAAGCCAAAA
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Task1_train_1166
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This mutation is located in gene ABCA4, LOC126805793 (ATP binding cassette subfamily A member 4| CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:94486302-94487501) on Chromosome 1. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; not provided
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GCTTGGATTTGTTCACCCGCTCCTGGATCAAATAAAGGACAAAGCTGGCTGGGACGAAGGACATGGAGAAAATCACGCAGATGGCAACCACAGCATCCACTGAAGTGGTCAGCCTGCAGCAGGGCCAGAGACACAGGGAGAGGGCGATGAAGAGGGAAGAGCAGAAGGAGGAGAAGATACAAAGTCAGGCTTTGGGAAGGCCTTACACCCGCCCAGGTGTGGCCTCCAGGTTCCTCTTCTCTACCTTGAAGCTGTCACTCCACTAAACTGTCTTAATCCATATGGACCAAGGTTAAATGGGTATTTGCGGGTTGCCTTTCTATTTCATGTGAATATTTCTAGACAACCTTTCTTTTTATTATATTCTCTAATTATTTTTATGGTGTATAGAAATAGATGTTTATATTAATCTTATGTACTGCAATGCTCTCATTAGCTCTAATAATCTGTCTATAGAGTCTCTTGAATTTTCTATGTTGACAGACATACGGTCTGTGAGATTTATCTTTTGTTAATAATCATCTTGTTAAATCACATTTTCAAGAAGTACATCGTAACACAAGGAAATGTTCATGATGTAAATTTAAGTGAAAAGAGGGCAGGCAAGTTGTACAGGGACTTGGCTCTATTTATTCTTTCCTCGGACAAATAGAAGGCATCTGGCTGAGGGGTAAGTTGGGGCTAAAGCCAGCCTGAACTTTATGTACAAGCCATAACCCCTGGCATGGGACAGTGTCCACCTGCAGAAAAGAGCATTTTTACTAATTTCCACAAAGGTATCCTATGTGGTAGTCACTACCTTGATAAAACTACAGATCATATCATCCATACACGTAGTAAGCTTAGAACAAATGACTGGAAGGAGACACACGAAAGTGTGGCTGAGTGAGAATTAACAGAGGACAGTCTAGGGCCCTAGGGTGTCCAGAGGAAGACACCAAGGAGCCAAGGCCCAGGTTTTAGTGGATGACCCTGGGCATGTTCACTGGCACTCAGCGTGTGCTAGGATAGTAAAATCAGGACCCCACAACGTTGCTGAAGTTTGCACTAACAAAGGTGCTCCTACCAACCCCTCCTCCATGTAGGCCTCAAATAGAGTGAACATACTACAAAACGCACAAGGCCACTGTCTCCACTGGCTGAAACTGTGCAAGAAGAGCCTCAGCTTGAGGGTAGCAAAGCTCTGTCGACATCTCCAAAGTATGCTCTTCTGAGGAAATTCCTGGAATCTAAGATAATTACTCCGAGGGAGCTGAAAGGTTTACTGAACTTTGCCAGTTCCTGGCAGCTGCTTTGCACATAGCAAAGATAATAATTGTATAAGCTCCAGGAGCAACTTGCTATCAAAAGCCAAAAGGGAATGGAACCAAATGTAAACTTACTTGCCACATAAATGTTGGGGAGAAAGAATGACCAAGAGGTCTGGTATGTGAAGTGTGAGGCACTTATTTGAAAGTCGGATGTTCATATGTGCCTGACTAAACAGCATTACCATCCAAATCAGCACTTCGCGGTGGTGAGAATCCTCTCAGGATGTTCAAAGAGTGGAGAAGGTGACAAGAAAGTGGTGAGGCTGGGGCTGTGGTGGCTTACACTGTAATCTCTGAGAGCTGCTCCTTGGTCAGGTTCAGGGGTTGGCTAATGACGGTGATTCCATACTCCTCGGGGCTCCTGTCCTTAGGCAGGCTGGCCCGTAAGATGGCGTTGTGGGCCACATTGAGAAAGCTGACCAGGGCATGCCAGCCTTTGTTATTAAACCACACCTAGAGGGTGGAGAGGACATCTGAGACGCTGCACTAACAGCTAGTTAAAGCAGAAATCAGTGAAGGAAAGGAAATTTGAGAAGCAGGAAGGGTTTGGTAGCTGGAAGACATTCCTTGCTAGATTTCAGCAGGAGGAGGGATGGAATTTAATGAAGGTAGGAAAGTAAAAATAAAATAACCAGCTCAGGTAAATTTTTAGCTCCAGAGCAGATTATACATAGGTCAAGTACCTTAATGTTGTCTTCAGTTTCTAGATGTTTAAGGAAATCAGGTATTTCTTTAGAGGCCTCTCTAGTGATAGGGCCCTAAAAACCATGTAAACAAACAAACAAGACGGTTTTAATTTTTTTTTCCTGTTATCACTCATGAGAGTTTCTCATTCATGGTAGTTAAGCAAGTCAAAAATCCTACTCAAATCTCCAGTCTGTTTACATACCCCGCTCACATTCATGATCCGGCCAAGGTCGCTTAAAAACCCAACAAGTGCTTCCCCCGTGATGGGGACGACTGGGAGCTTTCCTCCAATGGAAATTCCTCCATACCTGACAAGGAAACAGGAAATCCTCAGACCAGGGCCACGAACTTCACGCCTACTAGTAGCTCTCTCGGGTTTTGTAGGGAAACATGAACTTTCGGGGGAATTGCCTGGACCAGCGAGCAACATGGCTCCACTTTACAAACCAGCTTTTAACTCTTTTCCCACTGCTGCTGCCTCCAGGAAGGAGTCCAAACCCTCATCCTGGCCTCTGAGGCCCTTCTGCATCTGGTCTGTGCCCCTCTCCAACTTCATCCTTCCTCAGCCCTTCCCTGGAGTGGCCTATTCTGGACATATCGAGTCACTTCCAGAGCTCCTCATGGCCCAGACTGCCTGCATGTCTCTGCCTTTGCATGGCTGCTAGCTCCCCTCGGCACCTTTCCCTTTTGGGAGCATCGAGCCAACTCCAGGTCCTCTTTCACATGTCACATGTCATCTCCTCCCATCCCAGCCAAGGACTCCTTTTCTGTGCCACCTCTGTGCTTTGCAGGTACTTCTAGCAGCACAGGACCCATCTTCATCCTGTCATCCCTACCTCTCGGGGCTTCTGTGCCTCACACCTGTTCAGGGAGGCCCTTAGCCTCTCCTGCCTGGACTTGTGCTCTGCTTCTTCACTGGCCCTGGGATCTATCTCCTGTACTGCCCTGGAAGTCTGAAGTGACTGTGTGGAAACACCAGTCTGAGTGCATCACTCCCTGGCCTCAAACCCTTCAAAGGCAGGGCAGAAGCCAAAGTCAACAGAACAGAATGAATTAGCTGGTTATACCAAGCAGAGGAGGAGCTCTTTCTCAGGGCCTTGAATCACTGCCTCACTCCTACTCTCTGTCTCAGCCGAGGCCCCACAGGTCCCTCTGGAGAGCAATCCTGAAAGCCAGATTTCATGTGTACGGTCTAGAATCTGCCCAGGAAAGCACATACATGTCAGCCCCGCACCTGTTCTGGAGGTGCAGTTCCTGAGGGAGGCTGGGAGGCAGCAGGCTCCTAGAGTCCCACTTGGTGAGGTTCTAAACCTCTGGAAATATTTCAACCTCCAGGATGCCTCAGGAATGGGGTGAGTCTGGGGCTGGCCCACACTCCCTGAAGCTTAAAAGGAATGGGCCAAGGAGTGTCCCGGGTTTAGGCTACAAGGCCCTCTTGTTGGAGTATTATAAACTGTTATATACTTGGAGGTTTTAGAAGCTTTTTTTGGGTGAGAATGCTCTGAAACGCCACATCAGGGAATGCCACCCCCACTTATGTCCTCCAAGAAGAGGCACCACTGAGTGTCTTCTGAGTCTGGGATGTCCCTAGCCACATATTCTTCAGGACGTGTCTTGTGACTTCCTGAGCACCTACAGAACAGCCCCTCCTCATGGCTGTGAGGTGTGCCTTTTAAAAGTGTGCAATTATTTCAACAATGAATCAATCTGAGATTTTAATTCTGATAAAAATAGTTTCTTACCTCTGTTCATTGACCCAGAATTTGCTCTTTAAGCTGAAAGCCAAAATAAAATAATGCAATGAATACCACAAGTACAGCAGTGCCGTTAACTTTCTTTCCCAAACATTCATTTTGAAGACTGAAGTCTCAGTCTTCAGGGGCATTTTTGCATTTTCCGATATCCAAGCAATGCGGAAGCCGCCCAGCCCTGGGACATTGCCTGAATACACATGCAGAGAAAGGACCTATGATTTCCCCCACTGGCTCTCCAAATCATATCCCGCATGCTGGACTTTCTGAGTGGTCCTGTTGTCAGGTCATATGTCAGGTCAATATGCCTGATCTGGACCCAGAACACACGGCAATGACCATGTCAGT
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GCTTGGATTTGTTCACCCGCTCCTGGATCAAATAAAGGACAAAGCTGGCTGGGACGAAGGACATGGAGAAAATCACGCAGATGGCAACCACAGCATCCACTGAAGTGGTCAGCCTGCAGCAGGGCCAGAGACACAGGGAGAGGGCGATGAAGAGGGAAGAGCAGAAGGAGGAGAAGATACAAAGTCAGGCTTTGGGAAGGCCTTACACCCGCCCAGGTGTGGCCTCCAGGTTCCTCTTCTCTACCTTGAAGCTGTCACTCCACTAAACTGTCTTAATCCATATGGACCAAGGTTAAATGGGTATTTGCGGGTTGCCTTTCTATTTCATGTGAATATTTCTAGACAACCTTTCTTTTTATTATATTCTCTAATTATTTTTATGGTGTATAGAAATAGATGTTTATATTAATCTTATGTACTGCAATGCTCTCATTAGCTCTAATAATCTGTCTATAGAGTCTCTTGAATTTTCTATGTTGACAGACATACGGTCTGTGAGATTTATCTTTTGTTAATAATCATCTTGTTAAATCACATTTTCAAGAAGTACATCGTAACACAAGGAAATGTTCATGATGTAAATTTAAGTGAAAAGAGGGCAGGCAAGTTGTACAGGGACTTGGCTCTATTTATTCTTTCCTCGGACAAATAGAAGGCATCTGGCTGAGGGGTAAGTTGGGGCTAAAGCCAGCCTGAACTTTATGTACAAGCCATAACCCCTGGCATGGGACAGTGTCCACCTGCAGAAAAGAGCATTTTTACTAATTTCCACAAAGGTATCCTATGTGGTAGTCACTACCTTGATAAAACTACAGATCATATCATCCATACACGTAGTAAGCTTAGAACAAATGACTGGAAGGAGACACACGAAAGTGTGGCTGAGTGAGAATTAACAGAGGACAGTCTAGGGCCCTAGGGTGTCCAGAGGAAGACACCAAGGAGCCAAGGCCCAGGTTTTAGTGGATGACCCTGGGCATGTTCACTGGCACTCAGCGTGTGCTAGGATAGTAAAATCAGGACCCCACAACGTTGCTGAAGTTTGCACTAACAAAGGTGCTCCTACCAACCCCTCCTCCATGTAGGCCTCAAATAGAGTGAACATACTACAAAACGCACAAGGCCACTGTCTCCACTGGCTGAAACTGTGCAAGAAGAGCCTCAGCTTGAGGGTAGCAAAGCTCTGTCGACATCTCCAAAGTATGCTCTTCTGAGGAAATTCCTGGAATCTAAGATAATTACTCCGAGGGAGCTGAAAGGTTTACTGAACTTTGCCAGTTCCTGGCAGCTGCTTTGCACATAGCAAAGATAATAATTGTATAAGCTCCAGGAGCAACTTGCTATCAAAAGCCAAAAGGGAATGGAACCAAATGTAAACTTACTTGCCACATAAATGTTGGGGAGAAAGAATGACCAAGAGGTCTGGTATGTGAAGTGTGAGGCACTTATTTGAAAGTCGGATGTTCATATGTGCCTGACTAAACAGCATTACCATCCAAATCAGCACTTCGCGGTGGTGAGAATCCTCTCAGGATGTTCAAAGAGTGGAGAAGGTGACAAGAAAGTGGTGAGGCTGGGGCTGTGGTGGCTTACACTGTAATCTCTGAGAGCTGCTCCTTGGTCAGGTTCAGGGGTTGGCTAATGACGGTGATTCCATACTCCTCGGGGCTCCTGTCCTTAGGCAGGCTGGCCCGTAAGATGGCGTTGTGGGCCACATTGAGAAAGCTGACCAGGGCATGCCAGCCTTTGTTATTAAACCACACCTAGAGGGTGGAGAGGACATCTGAGACGCTGCACTAACAGCTAGTTAAAGCAGAAATCAGTGAAGGAAAGGAAATTTGAGAAGCAGGAAGGGTTTGGTAGCTGGAAGACATTCCTTGCTAGATTTCAGCAGGAGGAGGGATGGAATTTAATGAAGGTAGGAAAGTAAAAATAAAATAACCAGCTCAGGTAAATTTTTAGCTCCAGAGCAGATTATACATAGGTCAAGTACCTTAATGTTGTCTTCAGTTTCTAGATGTTTAAGGAAATCAGGTATTTCTTTAGAGCCCTCTCTAGTGATAGGGCCCTAAAAACCATGTAAACAAACAAACAAGACGGTTTTAATTTTTTTTTCCTGTTATCACTCATGAGAGTTTCTCATTCATGGTAGTTAAGCAAGTCAAAAATCCTACTCAAATCTCCAGTCTGTTTACATACCCCGCTCACATTCATGATCCGGCCAAGGTCGCTTAAAAACCCAACAAGTGCTTCCCCCGTGATGGGGACGACTGGGAGCTTTCCTCCAATGGAAATTCCTCCATACCTGACAAGGAAACAGGAAATCCTCAGACCAGGGCCACGAACTTCACGCCTACTAGTAGCTCTCTCGGGTTTTGTAGGGAAACATGAACTTTCGGGGGAATTGCCTGGACCAGCGAGCAACATGGCTCCACTTTACAAACCAGCTTTTAACTCTTTTCCCACTGCTGCTGCCTCCAGGAAGGAGTCCAAACCCTCATCCTGGCCTCTGAGGCCCTTCTGCATCTGGTCTGTGCCCCTCTCCAACTTCATCCTTCCTCAGCCCTTCCCTGGAGTGGCCTATTCTGGACATATCGAGTCACTTCCAGAGCTCCTCATGGCCCAGACTGCCTGCATGTCTCTGCCTTTGCATGGCTGCTAGCTCCCCTCGGCACCTTTCCCTTTTGGGAGCATCGAGCCAACTCCAGGTCCTCTTTCACATGTCACATGTCATCTCCTCCCATCCCAGCCAAGGACTCCTTTTCTGTGCCACCTCTGTGCTTTGCAGGTACTTCTAGCAGCACAGGACCCATCTTCATCCTGTCATCCCTACCTCTCGGGGCTTCTGTGCCTCACACCTGTTCAGGGAGGCCCTTAGCCTCTCCTGCCTGGACTTGTGCTCTGCTTCTTCACTGGCCCTGGGATCTATCTCCTGTACTGCCCTGGAAGTCTGAAGTGACTGTGTGGAAACACCAGTCTGAGTGCATCACTCCCTGGCCTCAAACCCTTCAAAGGCAGGGCAGAAGCCAAAGTCAACAGAACAGAATGAATTAGCTGGTTATACCAAGCAGAGGAGGAGCTCTTTCTCAGGGCCTTGAATCACTGCCTCACTCCTACTCTCTGTCTCAGCCGAGGCCCCACAGGTCCCTCTGGAGAGCAATCCTGAAAGCCAGATTTCATGTGTACGGTCTAGAATCTGCCCAGGAAAGCACATACATGTCAGCCCCGCACCTGTTCTGGAGGTGCAGTTCCTGAGGGAGGCTGGGAGGCAGCAGGCTCCTAGAGTCCCACTTGGTGAGGTTCTAAACCTCTGGAAATATTTCAACCTCCAGGATGCCTCAGGAATGGGGTGAGTCTGGGGCTGGCCCACACTCCCTGAAGCTTAAAAGGAATGGGCCAAGGAGTGTCCCGGGTTTAGGCTACAAGGCCCTCTTGTTGGAGTATTATAAACTGTTATATACTTGGAGGTTTTAGAAGCTTTTTTTGGGTGAGAATGCTCTGAAACGCCACATCAGGGAATGCCACCCCCACTTATGTCCTCCAAGAAGAGGCACCACTGAGTGTCTTCTGAGTCTGGGATGTCCCTAGCCACATATTCTTCAGGACGTGTCTTGTGACTTCCTGAGCACCTACAGAACAGCCCCTCCTCATGGCTGTGAGGTGTGCCTTTTAAAAGTGTGCAATTATTTCAACAATGAATCAATCTGAGATTTTAATTCTGATAAAAATAGTTTCTTACCTCTGTTCATTGACCCAGAATTTGCTCTTTAAGCTGAAAGCCAAAATAAAATAATGCAATGAATACCACAAGTACAGCAGTGCCGTTAACTTTCTTTCCCAAACATTCATTTTGAAGACTGAAGTCTCAGTCTTCAGGGGCATTTTTGCATTTTCCGATATCCAAGCAATGCGGAAGCCGCCCAGCCCTGGGACATTGCCTGAATACACATGCAGAGAAAGGACCTATGATTTCCCCCACTGGCTCTCCAAATCATATCCCGCATGCTGGACTTTCTGAGTGGTCCTGTTGTCAGGTCATATGTCAGGTCAATATGCCTGATCTGGACCCAGAACACACGGCAATGACCATGTCAGT
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Task1_train_1167
|
This variant affects the gene ABCA4 (ATP binding cassette subfamily A member 4) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; not provided
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CCGTAAGATGGCGTTGTGGGCCACATTGAGAAAGCTGACCAGGGCATGCCAGCCTTTGTTATTAAACCACACCTAGAGGGTGGAGAGGACATCTGAGACGCTGCACTAACAGCTAGTTAAAGCAGAAATCAGTGAAGGAAAGGAAATTTGAGAAGCAGGAAGGGTTTGGTAGCTGGAAGACATTCCTTGCTAGATTTCAGCAGGAGGAGGGATGGAATTTAATGAAGGTAGGAAAGTAAAAATAAAATAACCAGCTCAGGTAAATTTTTAGCTCCAGAGCAGATTATACATAGGTCAAGTACCTTAATGTTGTCTTCAGTTTCTAGATGTTTAAGGAAATCAGGTATTTCTTTAGAGGCCTCTCTAGTGATAGGGCCCTAAAAACCATGTAAACAAACAAACAAGACGGTTTTAATTTTTTTTTCCTGTTATCACTCATGAGAGTTTCTCATTCATGGTAGTTAAGCAAGTCAAAAATCCTACTCAAATCTCCAGTCTGTTTACATACCCCGCTCACATTCATGATCCGGCCAAGGTCGCTTAAAAACCCAACAAGTGCTTCCCCCGTGATGGGGACGACTGGGAGCTTTCCTCCAATGGAAATTCCTCCATACCTGACAAGGAAACAGGAAATCCTCAGACCAGGGCCACGAACTTCACGCCTACTAGTAGCTCTCTCGGGTTTTGTAGGGAAACATGAACTTTCGGGGGAATTGCCTGGACCAGCGAGCAACATGGCTCCACTTTACAAACCAGCTTTTAACTCTTTTCCCACTGCTGCTGCCTCCAGGAAGGAGTCCAAACCCTCATCCTGGCCTCTGAGGCCCTTCTGCATCTGGTCTGTGCCCCTCTCCAACTTCATCCTTCCTCAGCCCTTCCCTGGAGTGGCCTATTCTGGACATATCGAGTCACTTCCAGAGCTCCTCATGGCCCAGACTGCCTGCATGTCTCTGCCTTTGCATGGCTGCTAGCTCCCCTCGGCACCTTTCCCTTTTGGGAGCATCGAGCCAACTCCAGGTCCTCTTTCACATGTCACATGTCATCTCCTCCCATCCCAGCCAAGGACTCCTTTTCTGTGCCACCTCTGTGCTTTGCAGGTACTTCTAGCAGCACAGGACCCATCTTCATCCTGTCATCCCTACCTCTCGGGGCTTCTGTGCCTCACACCTGTTCAGGGAGGCCCTTAGCCTCTCCTGCCTGGACTTGTGCTCTGCTTCTTCACTGGCCCTGGGATCTATCTCCTGTACTGCCCTGGAAGTCTGAAGTGACTGTGTGGAAACACCAGTCTGAGTGCATCACTCCCTGGCCTCAAACCCTTCAAAGGCAGGGCAGAAGCCAAAGTCAACAGAACAGAATGAATTAGCTGGTTATACCAAGCAGAGGAGGAGCTCTTTCTCAGGGCCTTGAATCACTGCCTCACTCCTACTCTCTGTCTCAGCCGAGGCCCCACAGGTCCCTCTGGAGAGCAATCCTGAAAGCCAGATTTCATGTGTACGGTCTAGAATCTGCCCAGGAAAGCACATACATGTCAGCCCCGCACCTGTTCTGGAGGTGCAGTTCCTGAGGGAGGCTGGGAGGCAGCAGGCTCCTAGAGTCCCACTTGGTGAGGTTCTAAACCTCTGGAAATATTTCAACCTCCAGGATGCCTCAGGAATGGGGTGAGTCTGGGGCTGGCCCACACTCCCTGAAGCTTAAAAGGAATGGGCCAAGGAGTGTCCCGGGTTTAGGCTACAAGGCCCTCTTGTTGGAGTATTATAAACTGTTATATACTTGGAGGTTTTAGAAGCTTTTTTTGGGTGAGAATGCTCTGAAACGCCACATCAGGGAATGCCACCCCCACTTATGTCCTCCAAGAAGAGGCACCACTGAGTGTCTTCTGAGTCTGGGATGTCCCTAGCCACATATTCTTCAGGACGTGTCTTGTGACTTCCTGAGCACCTACAGAACAGCCCCTCCTCATGGCTGTGAGGTGTGCCTTTTAAAAGTGTGCAATTATTTCAACAATGAATCAATCTGAGATTTTAATTCTGATAAAAATAGTTTCTTACCTCTGTTCATTGACCCAGAATTTGCTCTTTAAGCTGAAAGCCAAAATAAAATAATGCAATGAATACCACAAGTACAGCAGTGCCGTTAACTTTCTTTCCCAAACATTCATTTTGAAGACTGAAGTCTCAGTCTTCAGGGGCATTTTTGCATTTTCCGATATCCAAGCAATGCGGAAGCCGCCCAGCCCTGGGACATTGCCTGAATACACATGCAGAGAAAGGACCTATGATTTCCCCCACTGGCTCTCCAAATCATATCCCGCATGCTGGACTTTCTGAGTGGTCCTGTTGTCAGGTCATATGTCAGGTCAATATGCCTGATCTGGACCCAGAACACACGGCAATGACCATGTCAGTGTGGAATGAAGGCTGCAGCCCTCCTGTCTTCCACCCTGCAAAAATGAGACTCTAACAACCACCTGCACACCTCGGGGGAGTTCCGACTCACTCCACAGCCCAAAGTTAAGGCACTGACATTCAGTCAATCAAGGGTAAAATGACAAAATGGGAAATGAACAGATGCCAACTCTGGACCCCAGAGCTCAATCCCATGAACTGTCATTGTCATCCACCTTTAAGCACACACGCACAAAATCCAAAATTTCATACTGGAGATTTGCTGCTGAGAACTCAGTTTGGGATGGTTGCTGTTTATTGCATTCTATTTATTCTGCTTTTATTTTGGGGCTTGGATGGCATTCTTTGTTTTGCTAAATGCTTTCACCATTTGCAGTGTGTTCTAGTTAATTAAGTCAATTTATCCCTCGTTCAGGGCTCTGGCAGGTGAAGCAACAGAAAGTCCTACTAAAGTTAGACAGGAGGTTTTATCTTAAAGCCCCAGAGCCTGTGCGGACTGGACCACGCTTCCTTAGGATCCTCTCTCCTGGCATGGCATGCCCCTGTCAAGCTGCTTGTTCTGATACGGGCTGCCAAAGCTGTTCCATCCTGGATGGGGCTGATAAGAACAGCTGGAGAGCCAAGAGAACTAGATATTTCTTGAAAAGTTCATTGGCATCTCAAAGGGCAGTGATCAAAGATGATAATTCACAGTTAGAATATGACAGCTGCAGTTGACCTGGCTCGCCCTGGCGTGTGCTGGACTCAGACACTGTCCCGCTGCCTCTTTCCCACCCTATCTTTTTCCTTTCTCTTTTTTGCCACTTACTTATTTTCTCTTTTTCTTCTACCTTTTCCCCTATACTCCTCCACCTCCCTCCAAATTTTTACTCTCTCTTTTAACTAGTTAAAATATGTGGCTGCATTTTTGAATAACTTCTATGGTCTTCTGATATAACTTTTAATAATACGTGGGTTAAAATTTAAGACTGCTTGCCCTAAATGTAAAAACAAACAAACAAACAACAAAAAAAGAATTAATCTTAAGTTACATTTTACTTGTATGTGCCTCAATTGCTTTTTATGTTGAATGGGGCCCTCAAATCAGATAAAAAAGAAAAAAATCTACTGCCCTGATCATACATAAATTGAGAGAGAAAATTATCTTCTGTCCCTAGTTAATATCTTCTACAGGGAGCCAGGATAAAAAGCATAAAAGGATTTCTTCTTACCTGCTTCTTATAAGAGCAGGATACGTTTTTACCAAGAAGTCGGAGATGTTCCTGTCCGTCAGGTCTTGTAGAATTTCCGTGCTGCGCTGTGTTCTCTGAGGCAATGAGACACCCACGTTAATTACCTTGGAACTTGAGGACTTATAAGTAGTTTGTGAAACTGCTTGTTGTCTTCCAAAAATTATTTATGGATTGAGCTGCTGAGAAAATACTAAATAAAGTACTGGCATCTCCCTAGTTCTCACTTCAATGATGTGTAACTCATCTTTGATGCCTCTTTTTTCGCCAATCCATTGACAAGACAGAATGGCGTCACTCCAAAACAAATCTCCAATCCATCTGCGTTTCTCCAGCTCCAATACTGCCACGCTACCCAAGCCACCACCTAGACCACTAGAGAAACTTCCACATGGGTCTGCCTGATTCTGTCCTTGGTCTGCCAACTTCCGTTTTCCACCCAGCAGCCAGCTTGAACTATAA
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CCGTAAGATGGCGTTGTGGGCCACATTGAGAAAGCTGACCAGGGCATGCCAGCCTTTGTTATTAAACCACACCTAGAGGGTGGAGAGGACATCTGAGACGCTGCACTAACAGCTAGTTAAAGCAGAAATCAGTGAAGGAAAGGAAATTTGAGAAGCAGGAAGGGTTTGGTAGCTGGAAGACATTCCTTGCTAGATTTCAGCAGGAGGAGGGATGGAATTTAATGAAGGTAGGAAAGTAAAAATAAAATAACCAGCTCAGGTAAATTTTTAGCTCCAGAGCAGATTATACATAGGTCAAGTACCTTAATGTTGTCTTCAGTTTCTAGATGTTTAAGGAAATCAGGTATTTCTTTAGAGGCCTCTCTAGTGATAGGGCCCTAAAAACCATGTAAACAAACAAACAAGACGGTTTTAATTTTTTTTTCCTGTTATCACTCATGAGAGTTTCTCATTCATGGTAGTTAAGCAAGTCAAAAATCCTACTCAAATCTCCAGTCTGTTTACATACCCCGCTCACATTCATGATCCGGCCAAGGTCGCTTAAAAACCCAACAAGTGCTTCCCCCGTGATGGGGACGACTGGGAGCTTTCCTCCAATGGAAATTCCTCCATACCTGACAAGGAAACAGGAAATCCTCAGACCAGGGCCACGAACTTCACGCCTACTAGTAGCTCTCTCGGGTTTTGTAGGGAAACATGAACTTTCGGGGGAATTGCCTGGACCAGCGAGCAACATGGCTCCACTTTACAAACCAGCTTTTAACTCTTTTCCCACTGCTGCTGCCTCCAGGAAGGAGTCCAAACCCTCATCCTGGCCTCTGAGGCCCTTCTGCATCTGGTCTGTGCCCCTCTCCAACTTCATCCTTCCTCAGCCCTTCCCTGGAGTGGCCTATTCTGGACATATCGAGTCACTTCCAGAGCTCCTCATGGCCCAGACTGCCTGCATGTCTCTGCCTTTGCATGGCTGCTAGCTCCCCTCGGCACCTTTCCCTTTTGGGAGCATCGAGCCAACTCCAGGTCCTCTTTCACATGTCACATGTCATCTCCTCCCATCCCAGCCAAGGACTCCTTTTCTGTGCCACCTCTGTGCTTTGCAGGTACTTCTAGCAGCACAGGACCCATCTTCATCCTGTCATCCCTACCTCTCGGGGCTTCTGTGCCTCACACCTGTTCAGGGAGGCCCTTAGCCTCTCCTGCCTGGACTTGTGCTCTGCTTCTTCACTGGCCCTGGGATCTATCTCCTGTACTGCCCTGGAAGTCTGAAGTGACTGTGTGGAAACACCAGTCTGAGTGCATCACTCCCTGGCCTCAAACCCTTCAAAGGCAGGGCAGAAGCCAAAGTCAACAGAACAGAATGAATTAGCTGGTTATACCAAGCAGAGGAGGAGCTCTTTCTCAGGGCCTTGAATCACTGCCTCACTCCTACTCTCTGTCTCAGCCGAGGCCCCACAGGTCCCTCTGGAGAGCAATCCTGAAAGCCAGATTTCATGTGTACGGTCTAGAATCTGCCCAGGAAAGCACATACATGTCAGCCCCGCACCTGTTCTGGAGGTGCAGTTCCTGAGGGAGGCTGGGAGGCAGCAGGCTCCTAGAGTCCCACTTGGTGAGGTTCTAAACCTCTGGAAATATTTCAACCTCCAGGATGCCTCAGGAATGGGGTGAGTCTGGGGCTGGCCCACACTCCCTGAAGCTTAAAAGGAATGGGCCAAGGAGTGTCCCGGGTTTAGGCTACAAGGCCCTCTTGTTGGAGTATTATAAACTGTTATATACTTGGAGGTTTTAGAAGCTTTTTTTGGGTGAGAATGCTCTGAAACGCCACATCAGGGAATGCCACCCCCACTTATGTCCTCCAAGAAGAGGCACCACTGAGTGTCTTCTGAGTCTGGGATGTCCCTAGCCACATATTCTTCAGGACGTGTCTTGTGACTTCCTGAGCACCTACAGAACAGCCCCTCCTCATGGCTGTGAGGTGTGCCTTTTAAAAGTGTGCAATTATTTCAACAATGAATCAATCTGAGATTTTAATTCTGATAAAAATAGTTTCTTACTTCTGTTCATTGACCCAGAATTTGCTCTTTAAGCTGAAAGCCAAAATAAAATAATGCAATGAATACCACAAGTACAGCAGTGCCGTTAACTTTCTTTCCCAAACATTCATTTTGAAGACTGAAGTCTCAGTCTTCAGGGGCATTTTTGCATTTTCCGATATCCAAGCAATGCGGAAGCCGCCCAGCCCTGGGACATTGCCTGAATACACATGCAGAGAAAGGACCTATGATTTCCCCCACTGGCTCTCCAAATCATATCCCGCATGCTGGACTTTCTGAGTGGTCCTGTTGTCAGGTCATATGTCAGGTCAATATGCCTGATCTGGACCCAGAACACACGGCAATGACCATGTCAGTGTGGAATGAAGGCTGCAGCCCTCCTGTCTTCCACCCTGCAAAAATGAGACTCTAACAACCACCTGCACACCTCGGGGGAGTTCCGACTCACTCCACAGCCCAAAGTTAAGGCACTGACATTCAGTCAATCAAGGGTAAAATGACAAAATGGGAAATGAACAGATGCCAACTCTGGACCCCAGAGCTCAATCCCATGAACTGTCATTGTCATCCACCTTTAAGCACACACGCACAAAATCCAAAATTTCATACTGGAGATTTGCTGCTGAGAACTCAGTTTGGGATGGTTGCTGTTTATTGCATTCTATTTATTCTGCTTTTATTTTGGGGCTTGGATGGCATTCTTTGTTTTGCTAAATGCTTTCACCATTTGCAGTGTGTTCTAGTTAATTAAGTCAATTTATCCCTCGTTCAGGGCTCTGGCAGGTGAAGCAACAGAAAGTCCTACTAAAGTTAGACAGGAGGTTTTATCTTAAAGCCCCAGAGCCTGTGCGGACTGGACCACGCTTCCTTAGGATCCTCTCTCCTGGCATGGCATGCCCCTGTCAAGCTGCTTGTTCTGATACGGGCTGCCAAAGCTGTTCCATCCTGGATGGGGCTGATAAGAACAGCTGGAGAGCCAAGAGAACTAGATATTTCTTGAAAAGTTCATTGGCATCTCAAAGGGCAGTGATCAAAGATGATAATTCACAGTTAGAATATGACAGCTGCAGTTGACCTGGCTCGCCCTGGCGTGTGCTGGACTCAGACACTGTCCCGCTGCCTCTTTCCCACCCTATCTTTTTCCTTTCTCTTTTTTGCCACTTACTTATTTTCTCTTTTTCTTCTACCTTTTCCCCTATACTCCTCCACCTCCCTCCAAATTTTTACTCTCTCTTTTAACTAGTTAAAATATGTGGCTGCATTTTTGAATAACTTCTATGGTCTTCTGATATAACTTTTAATAATACGTGGGTTAAAATTTAAGACTGCTTGCCCTAAATGTAAAAACAAACAAACAAACAACAAAAAAAGAATTAATCTTAAGTTACATTTTACTTGTATGTGCCTCAATTGCTTTTTATGTTGAATGGGGCCCTCAAATCAGATAAAAAAGAAAAAAATCTACTGCCCTGATCATACATAAATTGAGAGAGAAAATTATCTTCTGTCCCTAGTTAATATCTTCTACAGGGAGCCAGGATAAAAAGCATAAAAGGATTTCTTCTTACCTGCTTCTTATAAGAGCAGGATACGTTTTTACCAAGAAGTCGGAGATGTTCCTGTCCGTCAGGTCTTGTAGAATTTCCGTGCTGCGCTGTGTTCTCTGAGGCAATGAGACACCCACGTTAATTACCTTGGAACTTGAGGACTTATAAGTAGTTTGTGAAACTGCTTGTTGTCTTCCAAAAATTATTTATGGATTGAGCTGCTGAGAAAATACTAAATAAAGTACTGGCATCTCCCTAGTTCTCACTTCAATGATGTGTAACTCATCTTTGATGCCTCTTTTTTCGCCAATCCATTGACAAGACAGAATGGCGTCACTCCAAAACAAATCTCCAATCCATCTGCGTTTCTCCAGCTCCAATACTGCCACGCTACCCAAGCCACCACCTAGACCACTAGAGAAACTTCCACATGGGTCTGCCTGATTCTGTCCTTGGTCTGCCAACTTCCGTTTTCCACCCAGCAGCCAGCTTGAACTATAA
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Task1_train_1168
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This is a variant in ABCA4 (ATP binding cassette subfamily A member 4), located on Chromosome 1. Is this mutation a likely cause of disease or not?
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Pathogenic; not provided
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CCTGATGCTGGAGGGTTTTGAGTGGAGGCAGCCACAGGAGCCCTCAGCATTGACAGCAAAGCAAACAAGCAAAGCTTCCTCTTGGGGCACAGAGGACTGAGACAAGTTCCTTGGGTCCTTCTTTTGGGATCCCTATGATGCAGCAGATGAGCTGTGATTCAAAGAGAGAAAATATTGCTTGAGAAATATAAAGATACATGCTTTAGAATATAAAAAAGAGCAGGGATCGGGTGTTCTTGGCCTAGAACCATTTATAAACCAGACTGTGATAGGTGCTGTGGCAAAATCTAGTTGCTCCCATTATTTGCTCCTCCCTGCTGCCTTAGCCATAGCCTTTTTTGTTGGGTTTGTAAGTGGAAGTACTATGTGGGAACTTCAGAAAACCTTCCCTAAACATAGCACATGTGCACACTCTGCCCTCTGTTTTGCTTCATCCTTCTTCCATTCCGCTGCCTGGAAGGCAGCTCCTGCCTTATTGGCTGATGAGGCTGAGGCCTGTTTAGTGTGGAGGAGAAAGAGAATAGAACATCGTGCACCACCCACGTAGACTTTTAGATGAGTGAGAAACAAGTTGTGTCTTGTTTTATCTGCTGTTAGTTTGGGGTTGTCATCACTTGAGTTGAATCTAATTCTAAATAATTCCTTGCCCACATGATTTCATTAAATCCTCATAATAATATTATGAAATAAGCAGTTATTCCCAATTCACAGGTGATAAAATTAAGGCTCAGAGAGGTCAAGTAGTCCACCTGGGGCTCTCCGTGTCCCATACCTGTGCTTTCCCACTGAACTGCATAGCCTGTTTGGGAACAGTTTATTCATTGACAAATCATTGGACAGGGCTGTCTAAGGCCCAGCCCTGGCAAGTCAGCTGGGAGGCCCATTATCAACCACGGACACAGCCTTCTTTGATGTCTCTAAATCCCCCAGGAGATGCTCACTGTAATCTGTTCTGGACTTTAGAACTCCCAGGACAGGGTGCTGCTCAGAGCCAAGATCATTAATGTCCCTGCAAAAGATGGATGCTGGCTGTGCATGTATTTGTGTACATACCTGCAGATGTTAGAGACACAGCACATGGAGAGCTTCTTAATTAAGACTGTTAATAAGTGTGTAAACACATTTCCATTTGAATGTACATCATAGCATTGCTTATAATGGTGAAAACTAAAAAACCTAAGTGGCGAATAATGGGAGATCAGTTAATTTAAAGTAACTTTAGGCCAGGAGCAGTGGCTGACGCTTGTAATCCTAGCACTCTGGTAGGCAGAAGTGGGTAGATCACTTGAGGCCAGGAGTTCAACACCAGCCTGGCCAACATGGTAAAACCCCATCTGTACTAAAACTACCAAAAAAATTAGGCGGGCATGATGGTGCATGCCTGTAATCCCCACTACTCGGGGGGGCTGAGGCACAAGAATTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCGCTGCACTCCAACCTGGGTGACAGAGAGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAATTCAAACAATGGGATAATATACAGATATTAAAAGTGATGCAGATGTCTATTTATTGACATGGATGCATGTTCCTAGTAAATTATGCAGTAAATCAGATTTTAAGACAATATTTGGAATATAATCTGTTTGGGTGGCTGCAAACCAAACATTATCTGTGTTTATATCCAAGCGATGATTTTTTTTCCTTCTGACTTACCTGTGTTTTCTAATTTTTCTATAATGAGCACATATGACTTAATTTTTTTTAGTGCTTAAACACATTTTTTCTACTAGATCAAATAGGAAGTATCTGGTGGAAAATGAAGCTTTTGGTGAGTGGCTTCCTCCAGTTGGCAGCCACAGCGCCCTGTGGGGAGCCCCTCCCAGAGGGTGCAGGGAGTTTGGTTTAGTCCCCTACTCAACTGCCAGTTTGAAATGTTAGTTTGTGAGAGACTCAGGAGATACCAGGGACTCCCCTAGTCCCTCTGTGGCAGGCAGACCTGGGGCCCCGTTGTTTGGAGGTCAGGTACCTGGGGGGGCGGGAGGCCCCCGGCACCCTCGGGGCACTCTGGCAGCATGGTGAGCTTCTCCCTGGTGCTGCACCTGCAGGATGGTGAAGGGTTGACCTGTGTCCATTTCTGCTTCTGGAACAGCTGGGTGATGTTTGGGGACACAGAAGGAGTCTTCCAGGGTGTTGAGTTGCCACAGGGGTACTCCCTCATGGAAGACAAGAAAATATTCCATAATCAGCCTCAAAGTTGCTGACAAATCCCTAGGCATAAGAAATTGTGCCCAACCCTTTCCTCCTCCTCTTTAGACCCAGGCCCTTTCTTCTTATTCTCTTGGAGGCTGGTTTCTGCTCAAGCAATATCAAAACTAGGGTTTTGTGACTGACTAGGTGTGGGGCTGGGGAATAACCATCTCTAGCTTGTGGATCGTTTTGTCTCCCTTTTTATTCCTAGCAGCTCTAGCTGTTGAGAGACACAGCAACCAGAAGAGGAATTTGAAATTAGTCTGTTTTGGTCCTTATTGACAGCTTTGAAAAAGACTGAGGGAGAAAAGTTAAAATTATATTGAACTTTTAGGATTCCTGGTGGATGTCAATGGCCTTCGCTAACTCCCTTCTCCAGACTCACAACTATCACAAAGTACTGGCCACTGTGTCACTCACGCCATTCAAGGCCCAATCACACAATAGCATAACCCTATTTCCCTCCCTCCCTGCTCAGAGGCCTTTCAAATAAGTTATGGGGAATCATCTGTCAACTCAACATAGAACTTCTATGCTGAGAAATATAGAGCTGTCCAGTGGTGTGGGGGCTTCCTAGGAGGTAGTGAATGTCCCTGCACACAAGTGTGGAAGGAGAGGTTGGGGGAGTGCTGGTCAGAGACATGGAAGTGACCAGCAGAGCAGGATTGAGTGGGGCCTCCCCAACGCCTGCCATCTTGAACCCACCGTTGGGTCCTCCCAGGGGAGCTAGTCTTCTTAGGACAGGGGCGCGTAGGCACTTACGGAAGCCACCCTTCCTTCAGGCAGCGGTTGCCAAAGCCTGGCTTATTCAGGAGGACGTCTGCAAGTACCGTGAACTGCTCACTGCCTGGTTCATCCATGCTAGACAGAGTGAGACATGTGACTGGGACAGAGCAGGCGCGTGCCAACATCATGCAACTCAGAGCCTTTACTGGATAGCTGCTGTGTGCCAGGTATGTATTGGAGGCACCGAATGCTGCCTTGGGATGGCGCTAGCTCTCCTGGGAGTGCGGTAGGCTGCCTGAACACTCGCAGTGGTCTGATGGCATGTCACCTATGCCTCAAAAAGATGGCGCTTCAACCCATTCACCTAAGCTTTGCATTCCTTTCCCCATTCGGCCTTCCCAAGCAGTCCTGCCTGTCCACTAGGATCGCCTTTCCAAGCAGTGGCAGATACATTAAGTTCCTTTCTGCAGGCAGCCCAAAGACCCCTCCCCTCTCTCATTGGTGAAGGTCCCAGTGAAGTGGGAAGGTCAGGGCCCTTCTAAGCAGCATGTGACCCAGGTGCCCCAAACCCACAGAGGAGAATGGTGACCCCGAGTCCGCGCACCTGAAGAAGGTGTACTGCTGCCCATATATCCAGGGGTGAAGGGTCAAAGCGGGGTATTCGCCAAAAGGAGGGATAACAATAGAAAGCATCAGAGCCAAAAACACAAAGGTAGCCGGGAGCACGATCTGTGGGAGAATAGACGTGGAATAAACATGACTGTGGCATGGAGATGTCACACGTGCGCGTGCACACACATCTTCATTCTTTTAAACATTTATCCTGCAGCCTCCTAATCAGCCCCTGGTGGAGAGGGTTGGGCTTCTGGGGGAACATAATAAGCAGGGTGTGCAAAGGTAAGATGTGCAGAAGAAAACAGAATGTTCTGGTGGCCACTGAAGAATCTGAATGCAGCCCAGTGTTCAGCCAGACTTCAAAGGGCATTTCAAAGAGCAAGTCACGTGACTCACTGTTCTTTAAACCAGAGCTTCTTTTTCTAAATTAAACAACATTAAAAGAAAAAAGAGGGCAATGATTTTGATATGTAGGGTCACTGCAAAAATGAAT
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CCTGATGCTGGAGGGTTTTGAGTGGAGGCAGCCACAGGAGCCCTCAGCATTGACAGCAAAGCAAACAAGCAAAGCTTCCTCTTGGGGCACAGAGGACTGAGACAAGTTCCTTGGGTCCTTCTTTTGGGATCCCTATGATGCAGCAGATGAGCTGTGATTCAAAGAGAGAAAATATTGCTTGAGAAATATAAAGATACATGCTTTAGAATATAAAAAAGAGCAGGGATCGGGTGTTCTTGGCCTAGAACCATTTATAAACCAGACTGTGATAGGTGCTGTGGCAAAATCTAGTTGCTCCCATTATTTGCTCCTCCCTGCTGCCTTAGCCATAGCCTTTTTTGTTGGGTTTGTAAGTGGAAGTACTATGTGGGAACTTCAGAAAACCTTCCCTAAACATAGCACATGTGCACACTCTGCCCTCTGTTTTGCTTCATCCTTCTTCCATTCCGCTGCCTGGAAGGCAGCTCCTGCCTTATTGGCTGATGAGGCTGAGGCCTGTTTAGTGTGGAGGAGAAAGAGAATAGAACATCGTGCACCACCCACGTAGACTTTTAGATGAGTGAGAAACAAGTTGTGTCTTGTTTTATCTGCTGTTAGTTTGGGGTTGTCATCACTTGAGTTGAATCTAATTCTAAATAATTCCTTGCCCACATGATTTCATTAAATCCTCATAATAATATTATGAAATAAGCAGTTATTCCCAATTCACAGGTGATAAAATTAAGGCTCAGAGAGGTCAAGTAGTCCACCTGGGGCTCTCCGTGTCCCATACCTGTGCTTTCCCACTGAACTGCATAGCCTGTTTGGGAACAGTTTATTCATTGACAAATCATTGGACAGGGCTGTCTAAGGCCCAGCCCTGGCAAGTCAGCTGGGAGGCCCATTATCAACCACGGACACAGCCTTCTTTGATGTCTCTAAATCCCCCAGGAGATGCTCACTGTAATCTGTTCTGGACTTTAGAACTCCCAGGACAGGGTGCTGCTCAGAGCCAAGATCATTAATGTCCCTGCAAAAGATGGATGCTGGCTGTGCATGTATTTGTGTACATACCTGCAGATGTTAGAGACACAGCACATGGAGAGCTTCTTAATTAAGACTGTTAATAAGTGTGTAAACACATTTCCATTTGAATGTACATCATAGCATTGCTTATAATGGTGAAAACTAAAAAACCTAAGTGGCGAATAATGGGAGATCAGTTAATTTAAAGTAACTTTAGGCCAGGAGCAGTGGCTGACGCTTGTAATCCTAGCACTCTGGTAGGCAGAAGTGGGTAGATCACTTGAGGCCAGGAGTTCAACACCAGCCTGGCCAACATGGTAAAACCCCATCTGTACTAAAACTACCAAAAAAATTAGGCGGGCATGATGGTGCATGCCTGTAATCCCCACTACTCGGGGGGGCTGAGGCACAAGAATTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCGCTGCACTCCAACCTGGGTGACAGAGAGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAATTCAAACAATGGGATAATATACAGATATTAAAAGTGATGCAGATGTCTATTTATTGACATGGATGCATGTTCCTAGTAAATTATGCAGTAAATCAGATTTTAAGACAATATTTGGAATATAATCTGTTTGGGTGGCTGCAAACCAAACATTATCTGTGTTTATATCCAAGCGATGATTTTTTTTCCTTCTGACTTACCTGTGTTTTCTAATTTTTCTATAATGAGCACATATGACTTAATTTTTTTTAGTGCTTAAACACATTTTTTCTACTAGATCAAATAGGAAGTATCTGGTGGAAAATGAAGCTTTTGGTGAGTGGCTTCCTCCAGTTGGCAGCCACAGCGCCCTGTGGGGAGCCCCTCCCAGAGGGTGCAGGGAGTTTGGTTTAGTCCCCTACTCAACTGCCAGTTTGAAATGTTAGTTTGTGAGAGACTCAGGAGATACCAGGGACTCCCCTAGTCCCTCTGTGGCAGGCAGACCTGGGGCCCCGTTGTTTGGAGGTCAGGTACCTGGGGGCGCGGGAGGCCCCCGGCACCCTCGGGGCACTCTGGCAGCATGGTGAGCTTCTCCCTGGTGCTGCACCTGCAGGATGGTGAAGGGTTGACCTGTGTCCATTTCTGCTTCTGGAACAGCTGGGTGATGTTTGGGGACACAGAAGGAGTCTTCCAGGGTGTTGAGTTGCCACAGGGGTACTCCCTCATGGAAGACAAGAAAATATTCCATAATCAGCCTCAAAGTTGCTGACAAATCCCTAGGCATAAGAAATTGTGCCCAACCCTTTCCTCCTCCTCTTTAGACCCAGGCCCTTTCTTCTTATTCTCTTGGAGGCTGGTTTCTGCTCAAGCAATATCAAAACTAGGGTTTTGTGACTGACTAGGTGTGGGGCTGGGGAATAACCATCTCTAGCTTGTGGATCGTTTTGTCTCCCTTTTTATTCCTAGCAGCTCTAGCTGTTGAGAGACACAGCAACCAGAAGAGGAATTTGAAATTAGTCTGTTTTGGTCCTTATTGACAGCTTTGAAAAAGACTGAGGGAGAAAAGTTAAAATTATATTGAACTTTTAGGATTCCTGGTGGATGTCAATGGCCTTCGCTAACTCCCTTCTCCAGACTCACAACTATCACAAAGTACTGGCCACTGTGTCACTCACGCCATTCAAGGCCCAATCACACAATAGCATAACCCTATTTCCCTCCCTCCCTGCTCAGAGGCCTTTCAAATAAGTTATGGGGAATCATCTGTCAACTCAACATAGAACTTCTATGCTGAGAAATATAGAGCTGTCCAGTGGTGTGGGGGCTTCCTAGGAGGTAGTGAATGTCCCTGCACACAAGTGTGGAAGGAGAGGTTGGGGGAGTGCTGGTCAGAGACATGGAAGTGACCAGCAGAGCAGGATTGAGTGGGGCCTCCCCAACGCCTGCCATCTTGAACCCACCGTTGGGTCCTCCCAGGGGAGCTAGTCTTCTTAGGACAGGGGCGCGTAGGCACTTACGGAAGCCACCCTTCCTTCAGGCAGCGGTTGCCAAAGCCTGGCTTATTCAGGAGGACGTCTGCAAGTACCGTGAACTGCTCACTGCCTGGTTCATCCATGCTAGACAGAGTGAGACATGTGACTGGGACAGAGCAGGCGCGTGCCAACATCATGCAACTCAGAGCCTTTACTGGATAGCTGCTGTGTGCCAGGTATGTATTGGAGGCACCGAATGCTGCCTTGGGATGGCGCTAGCTCTCCTGGGAGTGCGGTAGGCTGCCTGAACACTCGCAGTGGTCTGATGGCATGTCACCTATGCCTCAAAAAGATGGCGCTTCAACCCATTCACCTAAGCTTTGCATTCCTTTCCCCATTCGGCCTTCCCAAGCAGTCCTGCCTGTCCACTAGGATCGCCTTTCCAAGCAGTGGCAGATACATTAAGTTCCTTTCTGCAGGCAGCCCAAAGACCCCTCCCCTCTCTCATTGGTGAAGGTCCCAGTGAAGTGGGAAGGTCAGGGCCCTTCTAAGCAGCATGTGACCCAGGTGCCCCAAACCCACAGAGGAGAATGGTGACCCCGAGTCCGCGCACCTGAAGAAGGTGTACTGCTGCCCATATATCCAGGGGTGAAGGGTCAAAGCGGGGTATTCGCCAAAAGGAGGGATAACAATAGAAAGCATCAGAGCCAAAAACACAAAGGTAGCCGGGAGCACGATCTGTGGGAGAATAGACGTGGAATAAACATGACTGTGGCATGGAGATGTCACACGTGCGCGTGCACACACATCTTCATTCTTTTAAACATTTATCCTGCAGCCTCCTAATCAGCCCCTGGTGGAGAGGGTTGGGCTTCTGGGGGAACATAATAAGCAGGGTGTGCAAAGGTAAGATGTGCAGAAGAAAACAGAATGTTCTGGTGGCCACTGAAGAATCTGAATGCAGCCCAGTGTTCAGCCAGACTTCAAAGGGCATTTCAAAGAGCAAGTCACGTGACTCACTGTTCTTTAAACCAGAGCTTCTTTTTCTAAATTAAACAACATTAAAAGAAAAAAGAGGGCAATGATTTTGATATGTAGGGTCACTGCAAAAATGAAT
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Task1_train_1169
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Located on Chromosome 1, this mutation impacts ABCA4 (ATP binding cassette subfamily A member 4). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Retinal dystrophy
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AACAAGCAAAGCTTCCTCTTGGGGCACAGAGGACTGAGACAAGTTCCTTGGGTCCTTCTTTTGGGATCCCTATGATGCAGCAGATGAGCTGTGATTCAAAGAGAGAAAATATTGCTTGAGAAATATAAAGATACATGCTTTAGAATATAAAAAAGAGCAGGGATCGGGTGTTCTTGGCCTAGAACCATTTATAAACCAGACTGTGATAGGTGCTGTGGCAAAATCTAGTTGCTCCCATTATTTGCTCCTCCCTGCTGCCTTAGCCATAGCCTTTTTTGTTGGGTTTGTAAGTGGAAGTACTATGTGGGAACTTCAGAAAACCTTCCCTAAACATAGCACATGTGCACACTCTGCCCTCTGTTTTGCTTCATCCTTCTTCCATTCCGCTGCCTGGAAGGCAGCTCCTGCCTTATTGGCTGATGAGGCTGAGGCCTGTTTAGTGTGGAGGAGAAAGAGAATAGAACATCGTGCACCACCCACGTAGACTTTTAGATGAGTGAGAAACAAGTTGTGTCTTGTTTTATCTGCTGTTAGTTTGGGGTTGTCATCACTTGAGTTGAATCTAATTCTAAATAATTCCTTGCCCACATGATTTCATTAAATCCTCATAATAATATTATGAAATAAGCAGTTATTCCCAATTCACAGGTGATAAAATTAAGGCTCAGAGAGGTCAAGTAGTCCACCTGGGGCTCTCCGTGTCCCATACCTGTGCTTTCCCACTGAACTGCATAGCCTGTTTGGGAACAGTTTATTCATTGACAAATCATTGGACAGGGCTGTCTAAGGCCCAGCCCTGGCAAGTCAGCTGGGAGGCCCATTATCAACCACGGACACAGCCTTCTTTGATGTCTCTAAATCCCCCAGGAGATGCTCACTGTAATCTGTTCTGGACTTTAGAACTCCCAGGACAGGGTGCTGCTCAGAGCCAAGATCATTAATGTCCCTGCAAAAGATGGATGCTGGCTGTGCATGTATTTGTGTACATACCTGCAGATGTTAGAGACACAGCACATGGAGAGCTTCTTAATTAAGACTGTTAATAAGTGTGTAAACACATTTCCATTTGAATGTACATCATAGCATTGCTTATAATGGTGAAAACTAAAAAACCTAAGTGGCGAATAATGGGAGATCAGTTAATTTAAAGTAACTTTAGGCCAGGAGCAGTGGCTGACGCTTGTAATCCTAGCACTCTGGTAGGCAGAAGTGGGTAGATCACTTGAGGCCAGGAGTTCAACACCAGCCTGGCCAACATGGTAAAACCCCATCTGTACTAAAACTACCAAAAAAATTAGGCGGGCATGATGGTGCATGCCTGTAATCCCCACTACTCGGGGGGGCTGAGGCACAAGAATTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCGCTGCACTCCAACCTGGGTGACAGAGAGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAATTCAAACAATGGGATAATATACAGATATTAAAAGTGATGCAGATGTCTATTTATTGACATGGATGCATGTTCCTAGTAAATTATGCAGTAAATCAGATTTTAAGACAATATTTGGAATATAATCTGTTTGGGTGGCTGCAAACCAAACATTATCTGTGTTTATATCCAAGCGATGATTTTTTTTCCTTCTGACTTACCTGTGTTTTCTAATTTTTCTATAATGAGCACATATGACTTAATTTTTTTTAGTGCTTAAACACATTTTTTCTACTAGATCAAATAGGAAGTATCTGGTGGAAAATGAAGCTTTTGGTGAGTGGCTTCCTCCAGTTGGCAGCCACAGCGCCCTGTGGGGAGCCCCTCCCAGAGGGTGCAGGGAGTTTGGTTTAGTCCCCTACTCAACTGCCAGTTTGAAATGTTAGTTTGTGAGAGACTCAGGAGATACCAGGGACTCCCCTAGTCCCTCTGTGGCAGGCAGACCTGGGGCCCCGTTGTTTGGAGGTCAGGTACCTGGGGGGGCGGGAGGCCCCCGGCACCCTCGGGGCACTCTGGCAGCATGGTGAGCTTCTCCCTGGTGCTGCACCTGCAGGATGGTGAAGGGTTGACCTGTGTCCATTTCTGCTTCTGGAACAGCTGGGTGATGTTTGGGGACACAGAAGGAGTCTTCCAGGGTGTTGAGTTGCCACAGGGGTACTCCCTCATGGAAGACAAGAAAATATTCCATAATCAGCCTCAAAGTTGCTGACAAATCCCTAGGCATAAGAAATTGTGCCCAACCCTTTCCTCCTCCTCTTTAGACCCAGGCCCTTTCTTCTTATTCTCTTGGAGGCTGGTTTCTGCTCAAGCAATATCAAAACTAGGGTTTTGTGACTGACTAGGTGTGGGGCTGGGGAATAACCATCTCTAGCTTGTGGATCGTTTTGTCTCCCTTTTTATTCCTAGCAGCTCTAGCTGTTGAGAGACACAGCAACCAGAAGAGGAATTTGAAATTAGTCTGTTTTGGTCCTTATTGACAGCTTTGAAAAAGACTGAGGGAGAAAAGTTAAAATTATATTGAACTTTTAGGATTCCTGGTGGATGTCAATGGCCTTCGCTAACTCCCTTCTCCAGACTCACAACTATCACAAAGTACTGGCCACTGTGTCACTCACGCCATTCAAGGCCCAATCACACAATAGCATAACCCTATTTCCCTCCCTCCCTGCTCAGAGGCCTTTCAAATAAGTTATGGGGAATCATCTGTCAACTCAACATAGAACTTCTATGCTGAGAAATATAGAGCTGTCCAGTGGTGTGGGGGCTTCCTAGGAGGTAGTGAATGTCCCTGCACACAAGTGTGGAAGGAGAGGTTGGGGGAGTGCTGGTCAGAGACATGGAAGTGACCAGCAGAGCAGGATTGAGTGGGGCCTCCCCAACGCCTGCCATCTTGAACCCACCGTTGGGTCCTCCCAGGGGAGCTAGTCTTCTTAGGACAGGGGCGCGTAGGCACTTACGGAAGCCACCCTTCCTTCAGGCAGCGGTTGCCAAAGCCTGGCTTATTCAGGAGGACGTCTGCAAGTACCGTGAACTGCTCACTGCCTGGTTCATCCATGCTAGACAGAGTGAGACATGTGACTGGGACAGAGCAGGCGCGTGCCAACATCATGCAACTCAGAGCCTTTACTGGATAGCTGCTGTGTGCCAGGTATGTATTGGAGGCACCGAATGCTGCCTTGGGATGGCGCTAGCTCTCCTGGGAGTGCGGTAGGCTGCCTGAACACTCGCAGTGGTCTGATGGCATGTCACCTATGCCTCAAAAAGATGGCGCTTCAACCCATTCACCTAAGCTTTGCATTCCTTTCCCCATTCGGCCTTCCCAAGCAGTCCTGCCTGTCCACTAGGATCGCCTTTCCAAGCAGTGGCAGATACATTAAGTTCCTTTCTGCAGGCAGCCCAAAGACCCCTCCCCTCTCTCATTGGTGAAGGTCCCAGTGAAGTGGGAAGGTCAGGGCCCTTCTAAGCAGCATGTGACCCAGGTGCCCCAAACCCACAGAGGAGAATGGTGACCCCGAGTCCGCGCACCTGAAGAAGGTGTACTGCTGCCCATATATCCAGGGGTGAAGGGTCAAAGCGGGGTATTCGCCAAAAGGAGGGATAACAATAGAAAGCATCAGAGCCAAAAACACAAAGGTAGCCGGGAGCACGATCTGTGGGAGAATAGACGTGGAATAAACATGACTGTGGCATGGAGATGTCACACGTGCGCGTGCACACACATCTTCATTCTTTTAAACATTTATCCTGCAGCCTCCTAATCAGCCCCTGGTGGAGAGGGTTGGGCTTCTGGGGGAACATAATAAGCAGGGTGTGCAAAGGTAAGATGTGCAGAAGAAAACAGAATGTTCTGGTGGCCACTGAAGAATCTGAATGCAGCCCAGTGTTCAGCCAGACTTCAAAGGGCATTTCAAAGAGCAAGTCACGTGACTCACTGTTCTTTAAACCAGAGCTTCTTTTTCTAAATTAAACAACATTAAAAGAAAAAAGAGGGCAATGATTTTGATATGTAGGGTCACTGCAAAAATGAATGAAAACATGACTTTATCCCTCACTGTAAAAATAAAAACAATATTAACATTTTCACTATTATTC
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AACAAGCAAAGCTTCCTCTTGGGGCACAGAGGACTGAGACAAGTTCCTTGGGTCCTTCTTTTGGGATCCCTATGATGCAGCAGATGAGCTGTGATTCAAAGAGAGAAAATATTGCTTGAGAAATATAAAGATACATGCTTTAGAATATAAAAAAGAGCAGGGATCGGGTGTTCTTGGCCTAGAACCATTTATAAACCAGACTGTGATAGGTGCTGTGGCAAAATCTAGTTGCTCCCATTATTTGCTCCTCCCTGCTGCCTTAGCCATAGCCTTTTTTGTTGGGTTTGTAAGTGGAAGTACTATGTGGGAACTTCAGAAAACCTTCCCTAAACATAGCACATGTGCACACTCTGCCCTCTGTTTTGCTTCATCCTTCTTCCATTCCGCTGCCTGGAAGGCAGCTCCTGCCTTATTGGCTGATGAGGCTGAGGCCTGTTTAGTGTGGAGGAGAAAGAGAATAGAACATCGTGCACCACCCACGTAGACTTTTAGATGAGTGAGAAACAAGTTGTGTCTTGTTTTATCTGCTGTTAGTTTGGGGTTGTCATCACTTGAGTTGAATCTAATTCTAAATAATTCCTTGCCCACATGATTTCATTAAATCCTCATAATAATATTATGAAATAAGCAGTTATTCCCAATTCACAGGTGATAAAATTAAGGCTCAGAGAGGTCAAGTAGTCCACCTGGGGCTCTCCGTGTCCCATACCTGTGCTTTCCCACTGAACTGCATAGCCTGTTTGGGAACAGTTTATTCATTGACAAATCATTGGACAGGGCTGTCTAAGGCCCAGCCCTGGCAAGTCAGCTGGGAGGCCCATTATCAACCACGGACACAGCCTTCTTTGATGTCTCTAAATCCCCCAGGAGATGCTCACTGTAATCTGTTCTGGACTTTAGAACTCCCAGGACAGGGTGCTGCTCAGAGCCAAGATCATTAATGTCCCTGCAAAAGATGGATGCTGGCTGTGCATGTATTTGTGTACATACCTGCAGATGTTAGAGACACAGCACATGGAGAGCTTCTTAATTAAGACTGTTAATAAGTGTGTAAACACATTTCCATTTGAATGTACATCATAGCATTGCTTATAATGGTGAAAACTAAAAAACCTAAGTGGCGAATAATGGGAGATCAGTTAATTTAAAGTAACTTTAGGCCAGGAGCAGTGGCTGACGCTTGTAATCCTAGCACTCTGGTAGGCAGAAGTGGGTAGATCACTTGAGGCCAGGAGTTCAACACCAGCCTGGCCAACATGGTAAAACCCCATCTGTACTAAAACTACCAAAAAAATTAGGCGGGCATGATGGTGCATGCCTGTAATCCCCACTACTCGGGGGGGCTGAGGCACAAGAATTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCGCTGCACTCCAACCTGGGTGACAGAGAGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAATTCAAACAATGGGATAATATACAGATATTAAAAGTGATGCAGATGTCTATTTATTGACATGGATGCATGTTCCTAGTAAATTATGCAGTAAATCAGATTTTAAGACAATATTTGGAATATAATCTGTTTGGGTGGCTGCAAACCAAACATTATCTGTGTTTATATCCAAGCGATGATTTTTTTTCCTTCTGACTTACCTGTGTTTTCTAATTTTTCTATAATGAGCACATATGACTTAATTTTTTTTAGTGCTTAAACACATTTTTTCTACTAGATCAAATAGGAAGTATCTGGTGGAAAATGAAGCTTTTGGTGAGTGGCTTCCTCCAGTTGGCAGCCACAGCGCCCTGTGGGGAGCCCCTCCCAGAGGGTGCAGGGAGTTTGGTTTAGTCCCCTACTCAACTGCCAGTTTGAAATGTTAGTTTGTGAGAGACTCAGGAGATACCAGGGACTCCCCTAGTCCCTCTGTGGCAGGCAGACCTGGGGCCCCGTTGTTTGGAGGTCAGGTACCTGGGGGGGCGGGAGGCCCCCGGCACCCTCGGGGCACTCTGGCAGCATGGTGAGCTTCTCCCTGGTGCTGTACCTGCAGGATGGTGAAGGGTTGACCTGTGTCCATTTCTGCTTCTGGAACAGCTGGGTGATGTTTGGGGACACAGAAGGAGTCTTCCAGGGTGTTGAGTTGCCACAGGGGTACTCCCTCATGGAAGACAAGAAAATATTCCATAATCAGCCTCAAAGTTGCTGACAAATCCCTAGGCATAAGAAATTGTGCCCAACCCTTTCCTCCTCCTCTTTAGACCCAGGCCCTTTCTTCTTATTCTCTTGGAGGCTGGTTTCTGCTCAAGCAATATCAAAACTAGGGTTTTGTGACTGACTAGGTGTGGGGCTGGGGAATAACCATCTCTAGCTTGTGGATCGTTTTGTCTCCCTTTTTATTCCTAGCAGCTCTAGCTGTTGAGAGACACAGCAACCAGAAGAGGAATTTGAAATTAGTCTGTTTTGGTCCTTATTGACAGCTTTGAAAAAGACTGAGGGAGAAAAGTTAAAATTATATTGAACTTTTAGGATTCCTGGTGGATGTCAATGGCCTTCGCTAACTCCCTTCTCCAGACTCACAACTATCACAAAGTACTGGCCACTGTGTCACTCACGCCATTCAAGGCCCAATCACACAATAGCATAACCCTATTTCCCTCCCTCCCTGCTCAGAGGCCTTTCAAATAAGTTATGGGGAATCATCTGTCAACTCAACATAGAACTTCTATGCTGAGAAATATAGAGCTGTCCAGTGGTGTGGGGGCTTCCTAGGAGGTAGTGAATGTCCCTGCACACAAGTGTGGAAGGAGAGGTTGGGGGAGTGCTGGTCAGAGACATGGAAGTGACCAGCAGAGCAGGATTGAGTGGGGCCTCCCCAACGCCTGCCATCTTGAACCCACCGTTGGGTCCTCCCAGGGGAGCTAGTCTTCTTAGGACAGGGGCGCGTAGGCACTTACGGAAGCCACCCTTCCTTCAGGCAGCGGTTGCCAAAGCCTGGCTTATTCAGGAGGACGTCTGCAAGTACCGTGAACTGCTCACTGCCTGGTTCATCCATGCTAGACAGAGTGAGACATGTGACTGGGACAGAGCAGGCGCGTGCCAACATCATGCAACTCAGAGCCTTTACTGGATAGCTGCTGTGTGCCAGGTATGTATTGGAGGCACCGAATGCTGCCTTGGGATGGCGCTAGCTCTCCTGGGAGTGCGGTAGGCTGCCTGAACACTCGCAGTGGTCTGATGGCATGTCACCTATGCCTCAAAAAGATGGCGCTTCAACCCATTCACCTAAGCTTTGCATTCCTTTCCCCATTCGGCCTTCCCAAGCAGTCCTGCCTGTCCACTAGGATCGCCTTTCCAAGCAGTGGCAGATACATTAAGTTCCTTTCTGCAGGCAGCCCAAAGACCCCTCCCCTCTCTCATTGGTGAAGGTCCCAGTGAAGTGGGAAGGTCAGGGCCCTTCTAAGCAGCATGTGACCCAGGTGCCCCAAACCCACAGAGGAGAATGGTGACCCCGAGTCCGCGCACCTGAAGAAGGTGTACTGCTGCCCATATATCCAGGGGTGAAGGGTCAAAGCGGGGTATTCGCCAAAAGGAGGGATAACAATAGAAAGCATCAGAGCCAAAAACACAAAGGTAGCCGGGAGCACGATCTGTGGGAGAATAGACGTGGAATAAACATGACTGTGGCATGGAGATGTCACACGTGCGCGTGCACACACATCTTCATTCTTTTAAACATTTATCCTGCAGCCTCCTAATCAGCCCCTGGTGGAGAGGGTTGGGCTTCTGGGGGAACATAATAAGCAGGGTGTGCAAAGGTAAGATGTGCAGAAGAAAACAGAATGTTCTGGTGGCCACTGAAGAATCTGAATGCAGCCCAGTGTTCAGCCAGACTTCAAAGGGCATTTCAAAGAGCAAGTCACGTGACTCACTGTTCTTTAAACCAGAGCTTCTTTTTCTAAATTAAACAACATTAAAAGAAAAAAGAGGGCAATGATTTTGATATGTAGGGTCACTGCAAAAATGAATGAAAACATGACTTTATCCCTCACTGTAAAAATAAAAACAATATTAACATTTTCACTATTATTC
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Task1_train_1170
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Consider a variant on Chromosome 1 in gene ABCA4 (ATP binding cassette subfamily A member 4). Determine its clinical classification and disease relevance.
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Pathogenic; Age related macular degeneration 2
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AACAAGCAAAGCTTCCTCTTGGGGCACAGAGGACTGAGACAAGTTCCTTGGGTCCTTCTTTTGGGATCCCTATGATGCAGCAGATGAGCTGTGATTCAAAGAGAGAAAATATTGCTTGAGAAATATAAAGATACATGCTTTAGAATATAAAAAAGAGCAGGGATCGGGTGTTCTTGGCCTAGAACCATTTATAAACCAGACTGTGATAGGTGCTGTGGCAAAATCTAGTTGCTCCCATTATTTGCTCCTCCCTGCTGCCTTAGCCATAGCCTTTTTTGTTGGGTTTGTAAGTGGAAGTACTATGTGGGAACTTCAGAAAACCTTCCCTAAACATAGCACATGTGCACACTCTGCCCTCTGTTTTGCTTCATCCTTCTTCCATTCCGCTGCCTGGAAGGCAGCTCCTGCCTTATTGGCTGATGAGGCTGAGGCCTGTTTAGTGTGGAGGAGAAAGAGAATAGAACATCGTGCACCACCCACGTAGACTTTTAGATGAGTGAGAAACAAGTTGTGTCTTGTTTTATCTGCTGTTAGTTTGGGGTTGTCATCACTTGAGTTGAATCTAATTCTAAATAATTCCTTGCCCACATGATTTCATTAAATCCTCATAATAATATTATGAAATAAGCAGTTATTCCCAATTCACAGGTGATAAAATTAAGGCTCAGAGAGGTCAAGTAGTCCACCTGGGGCTCTCCGTGTCCCATACCTGTGCTTTCCCACTGAACTGCATAGCCTGTTTGGGAACAGTTTATTCATTGACAAATCATTGGACAGGGCTGTCTAAGGCCCAGCCCTGGCAAGTCAGCTGGGAGGCCCATTATCAACCACGGACACAGCCTTCTTTGATGTCTCTAAATCCCCCAGGAGATGCTCACTGTAATCTGTTCTGGACTTTAGAACTCCCAGGACAGGGTGCTGCTCAGAGCCAAGATCATTAATGTCCCTGCAAAAGATGGATGCTGGCTGTGCATGTATTTGTGTACATACCTGCAGATGTTAGAGACACAGCACATGGAGAGCTTCTTAATTAAGACTGTTAATAAGTGTGTAAACACATTTCCATTTGAATGTACATCATAGCATTGCTTATAATGGTGAAAACTAAAAAACCTAAGTGGCGAATAATGGGAGATCAGTTAATTTAAAGTAACTTTAGGCCAGGAGCAGTGGCTGACGCTTGTAATCCTAGCACTCTGGTAGGCAGAAGTGGGTAGATCACTTGAGGCCAGGAGTTCAACACCAGCCTGGCCAACATGGTAAAACCCCATCTGTACTAAAACTACCAAAAAAATTAGGCGGGCATGATGGTGCATGCCTGTAATCCCCACTACTCGGGGGGGCTGAGGCACAAGAATTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCGCTGCACTCCAACCTGGGTGACAGAGAGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAATTCAAACAATGGGATAATATACAGATATTAAAAGTGATGCAGATGTCTATTTATTGACATGGATGCATGTTCCTAGTAAATTATGCAGTAAATCAGATTTTAAGACAATATTTGGAATATAATCTGTTTGGGTGGCTGCAAACCAAACATTATCTGTGTTTATATCCAAGCGATGATTTTTTTTCCTTCTGACTTACCTGTGTTTTCTAATTTTTCTATAATGAGCACATATGACTTAATTTTTTTTAGTGCTTAAACACATTTTTTCTACTAGATCAAATAGGAAGTATCTGGTGGAAAATGAAGCTTTTGGTGAGTGGCTTCCTCCAGTTGGCAGCCACAGCGCCCTGTGGGGAGCCCCTCCCAGAGGGTGCAGGGAGTTTGGTTTAGTCCCCTACTCAACTGCCAGTTTGAAATGTTAGTTTGTGAGAGACTCAGGAGATACCAGGGACTCCCCTAGTCCCTCTGTGGCAGGCAGACCTGGGGCCCCGTTGTTTGGAGGTCAGGTACCTGGGGGGGCGGGAGGCCCCCGGCACCCTCGGGGCACTCTGGCAGCATGGTGAGCTTCTCCCTGGTGCTGCACCTGCAGGATGGTGAAGGGTTGACCTGTGTCCATTTCTGCTTCTGGAACAGCTGGGTGATGTTTGGGGACACAGAAGGAGTCTTCCAGGGTGTTGAGTTGCCACAGGGGTACTCCCTCATGGAAGACAAGAAAATATTCCATAATCAGCCTCAAAGTTGCTGACAAATCCCTAGGCATAAGAAATTGTGCCCAACCCTTTCCTCCTCCTCTTTAGACCCAGGCCCTTTCTTCTTATTCTCTTGGAGGCTGGTTTCTGCTCAAGCAATATCAAAACTAGGGTTTTGTGACTGACTAGGTGTGGGGCTGGGGAATAACCATCTCTAGCTTGTGGATCGTTTTGTCTCCCTTTTTATTCCTAGCAGCTCTAGCTGTTGAGAGACACAGCAACCAGAAGAGGAATTTGAAATTAGTCTGTTTTGGTCCTTATTGACAGCTTTGAAAAAGACTGAGGGAGAAAAGTTAAAATTATATTGAACTTTTAGGATTCCTGGTGGATGTCAATGGCCTTCGCTAACTCCCTTCTCCAGACTCACAACTATCACAAAGTACTGGCCACTGTGTCACTCACGCCATTCAAGGCCCAATCACACAATAGCATAACCCTATTTCCCTCCCTCCCTGCTCAGAGGCCTTTCAAATAAGTTATGGGGAATCATCTGTCAACTCAACATAGAACTTCTATGCTGAGAAATATAGAGCTGTCCAGTGGTGTGGGGGCTTCCTAGGAGGTAGTGAATGTCCCTGCACACAAGTGTGGAAGGAGAGGTTGGGGGAGTGCTGGTCAGAGACATGGAAGTGACCAGCAGAGCAGGATTGAGTGGGGCCTCCCCAACGCCTGCCATCTTGAACCCACCGTTGGGTCCTCCCAGGGGAGCTAGTCTTCTTAGGACAGGGGCGCGTAGGCACTTACGGAAGCCACCCTTCCTTCAGGCAGCGGTTGCCAAAGCCTGGCTTATTCAGGAGGACGTCTGCAAGTACCGTGAACTGCTCACTGCCTGGTTCATCCATGCTAGACAGAGTGAGACATGTGACTGGGACAGAGCAGGCGCGTGCCAACATCATGCAACTCAGAGCCTTTACTGGATAGCTGCTGTGTGCCAGGTATGTATTGGAGGCACCGAATGCTGCCTTGGGATGGCGCTAGCTCTCCTGGGAGTGCGGTAGGCTGCCTGAACACTCGCAGTGGTCTGATGGCATGTCACCTATGCCTCAAAAAGATGGCGCTTCAACCCATTCACCTAAGCTTTGCATTCCTTTCCCCATTCGGCCTTCCCAAGCAGTCCTGCCTGTCCACTAGGATCGCCTTTCCAAGCAGTGGCAGATACATTAAGTTCCTTTCTGCAGGCAGCCCAAAGACCCCTCCCCTCTCTCATTGGTGAAGGTCCCAGTGAAGTGGGAAGGTCAGGGCCCTTCTAAGCAGCATGTGACCCAGGTGCCCCAAACCCACAGAGGAGAATGGTGACCCCGAGTCCGCGCACCTGAAGAAGGTGTACTGCTGCCCATATATCCAGGGGTGAAGGGTCAAAGCGGGGTATTCGCCAAAAGGAGGGATAACAATAGAAAGCATCAGAGCCAAAAACACAAAGGTAGCCGGGAGCACGATCTGTGGGAGAATAGACGTGGAATAAACATGACTGTGGCATGGAGATGTCACACGTGCGCGTGCACACACATCTTCATTCTTTTAAACATTTATCCTGCAGCCTCCTAATCAGCCCCTGGTGGAGAGGGTTGGGCTTCTGGGGGAACATAATAAGCAGGGTGTGCAAAGGTAAGATGTGCAGAAGAAAACAGAATGTTCTGGTGGCCACTGAAGAATCTGAATGCAGCCCAGTGTTCAGCCAGACTTCAAAGGGCATTTCAAAGAGCAAGTCACGTGACTCACTGTTCTTTAAACCAGAGCTTCTTTTTCTAAATTAAACAACATTAAAAGAAAAAAGAGGGCAATGATTTTGATATGTAGGGTCACTGCAAAAATGAATGAAAACATGACTTTATCCCTCACTGTAAAAATAAAAACAATATTAACATTTTCACTATTATTC
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AACAAGCAAAGCTTCCTCTTGGGGCACAGAGGACTGAGACAAGTTCCTTGGGTCCTTCTTTTGGGATCCCTATGATGCAGCAGATGAGCTGTGATTCAAAGAGAGAAAATATTGCTTGAGAAATATAAAGATACATGCTTTAGAATATAAAAAAGAGCAGGGATCGGGTGTTCTTGGCCTAGAACCATTTATAAACCAGACTGTGATAGGTGCTGTGGCAAAATCTAGTTGCTCCCATTATTTGCTCCTCCCTGCTGCCTTAGCCATAGCCTTTTTTGTTGGGTTTGTAAGTGGAAGTACTATGTGGGAACTTCAGAAAACCTTCCCTAAACATAGCACATGTGCACACTCTGCCCTCTGTTTTGCTTCATCCTTCTTCCATTCCGCTGCCTGGAAGGCAGCTCCTGCCTTATTGGCTGATGAGGCTGAGGCCTGTTTAGTGTGGAGGAGAAAGAGAATAGAACATCGTGCACCACCCACGTAGACTTTTAGATGAGTGAGAAACAAGTTGTGTCTTGTTTTATCTGCTGTTAGTTTGGGGTTGTCATCACTTGAGTTGAATCTAATTCTAAATAATTCCTTGCCCACATGATTTCATTAAATCCTCATAATAATATTATGAAATAAGCAGTTATTCCCAATTCACAGGTGATAAAATTAAGGCTCAGAGAGGTCAAGTAGTCCACCTGGGGCTCTCCGTGTCCCATACCTGTGCTTTCCCACTGAACTGCATAGCCTGTTTGGGAACAGTTTATTCATTGACAAATCATTGGACAGGGCTGTCTAAGGCCCAGCCCTGGCAAGTCAGCTGGGAGGCCCATTATCAACCACGGACACAGCCTTCTTTGATGTCTCTAAATCCCCCAGGAGATGCTCACTGTAATCTGTTCTGGACTTTAGAACTCCCAGGACAGGGTGCTGCTCAGAGCCAAGATCATTAATGTCCCTGCAAAAGATGGATGCTGGCTGTGCATGTATTTGTGTACATACCTGCAGATGTTAGAGACACAGCACATGGAGAGCTTCTTAATTAAGACTGTTAATAAGTGTGTAAACACATTTCCATTTGAATGTACATCATAGCATTGCTTATAATGGTGAAAACTAAAAAACCTAAGTGGCGAATAATGGGAGATCAGTTAATTTAAAGTAACTTTAGGCCAGGAGCAGTGGCTGACGCTTGTAATCCTAGCACTCTGGTAGGCAGAAGTGGGTAGATCACTTGAGGCCAGGAGTTCAACACCAGCCTGGCCAACATGGTAAAACCCCATCTGTACTAAAACTACCAAAAAAATTAGGCGGGCATGATGGTGCATGCCTGTAATCCCCACTACTCGGGGGGGCTGAGGCACAAGAATTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCGCTGCACTCCAACCTGGGTGACAGAGAGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAATTCAAACAATGGGATAATATACAGATATTAAAAGTGATGCAGATGTCTATTTATTGACATGGATGCATGTTCCTAGTAAATTATGCAGTAAATCAGATTTTAAGACAATATTTGGAATATAATCTGTTTGGGTGGCTGCAAACCAAACATTATCTGTGTTTATATCCAAGCGATGATTTTTTTTCCTTCTGACTTACCTGTGTTTTCTAATTTTTCTATAATGAGCACATATGACTTAATTTTTTTTAGTGCTTAAACACATTTTTTCTACTAGATCAAATAGGAAGTATCTGGTGGAAAATGAAGCTTTTGGTGAGTGGCTTCCTCCAGTTGGCAGCCACAGCGCCCTGTGGGGAGCCCCTCCCAGAGGGTGCAGGGAGTTTGGTTTAGTCCCCTACTCAACTGCCAGTTTGAAATGTTAGTTTGTGAGAGACTCAGGAGATACCAGGGACTCCCCTAGTCCCTCTGTGGCAGGCAGACCTGGGGCCCCGTTGTTTGGAGGTCAGGTACCTGGGGGGGCGGGAGGCCCCCGGCACCCTCGGGGCACTCTGGCAGCATGGTGAGCTTCTCCCTGGTGCTGTACCTGCAGGATGGTGAAGGGTTGACCTGTGTCCATTTCTGCTTCTGGAACAGCTGGGTGATGTTTGGGGACACAGAAGGAGTCTTCCAGGGTGTTGAGTTGCCACAGGGGTACTCCCTCATGGAAGACAAGAAAATATTCCATAATCAGCCTCAAAGTTGCTGACAAATCCCTAGGCATAAGAAATTGTGCCCAACCCTTTCCTCCTCCTCTTTAGACCCAGGCCCTTTCTTCTTATTCTCTTGGAGGCTGGTTTCTGCTCAAGCAATATCAAAACTAGGGTTTTGTGACTGACTAGGTGTGGGGCTGGGGAATAACCATCTCTAGCTTGTGGATCGTTTTGTCTCCCTTTTTATTCCTAGCAGCTCTAGCTGTTGAGAGACACAGCAACCAGAAGAGGAATTTGAAATTAGTCTGTTTTGGTCCTTATTGACAGCTTTGAAAAAGACTGAGGGAGAAAAGTTAAAATTATATTGAACTTTTAGGATTCCTGGTGGATGTCAATGGCCTTCGCTAACTCCCTTCTCCAGACTCACAACTATCACAAAGTACTGGCCACTGTGTCACTCACGCCATTCAAGGCCCAATCACACAATAGCATAACCCTATTTCCCTCCCTCCCTGCTCAGAGGCCTTTCAAATAAGTTATGGGGAATCATCTGTCAACTCAACATAGAACTTCTATGCTGAGAAATATAGAGCTGTCCAGTGGTGTGGGGGCTTCCTAGGAGGTAGTGAATGTCCCTGCACACAAGTGTGGAAGGAGAGGTTGGGGGAGTGCTGGTCAGAGACATGGAAGTGACCAGCAGAGCAGGATTGAGTGGGGCCTCCCCAACGCCTGCCATCTTGAACCCACCGTTGGGTCCTCCCAGGGGAGCTAGTCTTCTTAGGACAGGGGCGCGTAGGCACTTACGGAAGCCACCCTTCCTTCAGGCAGCGGTTGCCAAAGCCTGGCTTATTCAGGAGGACGTCTGCAAGTACCGTGAACTGCTCACTGCCTGGTTCATCCATGCTAGACAGAGTGAGACATGTGACTGGGACAGAGCAGGCGCGTGCCAACATCATGCAACTCAGAGCCTTTACTGGATAGCTGCTGTGTGCCAGGTATGTATTGGAGGCACCGAATGCTGCCTTGGGATGGCGCTAGCTCTCCTGGGAGTGCGGTAGGCTGCCTGAACACTCGCAGTGGTCTGATGGCATGTCACCTATGCCTCAAAAAGATGGCGCTTCAACCCATTCACCTAAGCTTTGCATTCCTTTCCCCATTCGGCCTTCCCAAGCAGTCCTGCCTGTCCACTAGGATCGCCTTTCCAAGCAGTGGCAGATACATTAAGTTCCTTTCTGCAGGCAGCCCAAAGACCCCTCCCCTCTCTCATTGGTGAAGGTCCCAGTGAAGTGGGAAGGTCAGGGCCCTTCTAAGCAGCATGTGACCCAGGTGCCCCAAACCCACAGAGGAGAATGGTGACCCCGAGTCCGCGCACCTGAAGAAGGTGTACTGCTGCCCATATATCCAGGGGTGAAGGGTCAAAGCGGGGTATTCGCCAAAAGGAGGGATAACAATAGAAAGCATCAGAGCCAAAAACACAAAGGTAGCCGGGAGCACGATCTGTGGGAGAATAGACGTGGAATAAACATGACTGTGGCATGGAGATGTCACACGTGCGCGTGCACACACATCTTCATTCTTTTAAACATTTATCCTGCAGCCTCCTAATCAGCCCCTGGTGGAGAGGGTTGGGCTTCTGGGGGAACATAATAAGCAGGGTGTGCAAAGGTAAGATGTGCAGAAGAAAACAGAATGTTCTGGTGGCCACTGAAGAATCTGAATGCAGCCCAGTGTTCAGCCAGACTTCAAAGGGCATTTCAAAGAGCAAGTCACGTGACTCACTGTTCTTTAAACCAGAGCTTCTTTTTCTAAATTAAACAACATTAAAAGAAAAAAGAGGGCAATGATTTTGATATGTAGGGTCACTGCAAAAATGAATGAAAACATGACTTTATCCCTCACTGTAAAAATAAAAACAATATTAACATTTTCACTATTATTC
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Task1_train_1171
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Consider this mutation in ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Is this a benign change or a disease-causing variant?
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Pathogenic; Cone-rod dystrophy 3
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AACAAGCAAAGCTTCCTCTTGGGGCACAGAGGACTGAGACAAGTTCCTTGGGTCCTTCTTTTGGGATCCCTATGATGCAGCAGATGAGCTGTGATTCAAAGAGAGAAAATATTGCTTGAGAAATATAAAGATACATGCTTTAGAATATAAAAAAGAGCAGGGATCGGGTGTTCTTGGCCTAGAACCATTTATAAACCAGACTGTGATAGGTGCTGTGGCAAAATCTAGTTGCTCCCATTATTTGCTCCTCCCTGCTGCCTTAGCCATAGCCTTTTTTGTTGGGTTTGTAAGTGGAAGTACTATGTGGGAACTTCAGAAAACCTTCCCTAAACATAGCACATGTGCACACTCTGCCCTCTGTTTTGCTTCATCCTTCTTCCATTCCGCTGCCTGGAAGGCAGCTCCTGCCTTATTGGCTGATGAGGCTGAGGCCTGTTTAGTGTGGAGGAGAAAGAGAATAGAACATCGTGCACCACCCACGTAGACTTTTAGATGAGTGAGAAACAAGTTGTGTCTTGTTTTATCTGCTGTTAGTTTGGGGTTGTCATCACTTGAGTTGAATCTAATTCTAAATAATTCCTTGCCCACATGATTTCATTAAATCCTCATAATAATATTATGAAATAAGCAGTTATTCCCAATTCACAGGTGATAAAATTAAGGCTCAGAGAGGTCAAGTAGTCCACCTGGGGCTCTCCGTGTCCCATACCTGTGCTTTCCCACTGAACTGCATAGCCTGTTTGGGAACAGTTTATTCATTGACAAATCATTGGACAGGGCTGTCTAAGGCCCAGCCCTGGCAAGTCAGCTGGGAGGCCCATTATCAACCACGGACACAGCCTTCTTTGATGTCTCTAAATCCCCCAGGAGATGCTCACTGTAATCTGTTCTGGACTTTAGAACTCCCAGGACAGGGTGCTGCTCAGAGCCAAGATCATTAATGTCCCTGCAAAAGATGGATGCTGGCTGTGCATGTATTTGTGTACATACCTGCAGATGTTAGAGACACAGCACATGGAGAGCTTCTTAATTAAGACTGTTAATAAGTGTGTAAACACATTTCCATTTGAATGTACATCATAGCATTGCTTATAATGGTGAAAACTAAAAAACCTAAGTGGCGAATAATGGGAGATCAGTTAATTTAAAGTAACTTTAGGCCAGGAGCAGTGGCTGACGCTTGTAATCCTAGCACTCTGGTAGGCAGAAGTGGGTAGATCACTTGAGGCCAGGAGTTCAACACCAGCCTGGCCAACATGGTAAAACCCCATCTGTACTAAAACTACCAAAAAAATTAGGCGGGCATGATGGTGCATGCCTGTAATCCCCACTACTCGGGGGGGCTGAGGCACAAGAATTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCGCTGCACTCCAACCTGGGTGACAGAGAGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAATTCAAACAATGGGATAATATACAGATATTAAAAGTGATGCAGATGTCTATTTATTGACATGGATGCATGTTCCTAGTAAATTATGCAGTAAATCAGATTTTAAGACAATATTTGGAATATAATCTGTTTGGGTGGCTGCAAACCAAACATTATCTGTGTTTATATCCAAGCGATGATTTTTTTTCCTTCTGACTTACCTGTGTTTTCTAATTTTTCTATAATGAGCACATATGACTTAATTTTTTTTAGTGCTTAAACACATTTTTTCTACTAGATCAAATAGGAAGTATCTGGTGGAAAATGAAGCTTTTGGTGAGTGGCTTCCTCCAGTTGGCAGCCACAGCGCCCTGTGGGGAGCCCCTCCCAGAGGGTGCAGGGAGTTTGGTTTAGTCCCCTACTCAACTGCCAGTTTGAAATGTTAGTTTGTGAGAGACTCAGGAGATACCAGGGACTCCCCTAGTCCCTCTGTGGCAGGCAGACCTGGGGCCCCGTTGTTTGGAGGTCAGGTACCTGGGGGGGCGGGAGGCCCCCGGCACCCTCGGGGCACTCTGGCAGCATGGTGAGCTTCTCCCTGGTGCTGCACCTGCAGGATGGTGAAGGGTTGACCTGTGTCCATTTCTGCTTCTGGAACAGCTGGGTGATGTTTGGGGACACAGAAGGAGTCTTCCAGGGTGTTGAGTTGCCACAGGGGTACTCCCTCATGGAAGACAAGAAAATATTCCATAATCAGCCTCAAAGTTGCTGACAAATCCCTAGGCATAAGAAATTGTGCCCAACCCTTTCCTCCTCCTCTTTAGACCCAGGCCCTTTCTTCTTATTCTCTTGGAGGCTGGTTTCTGCTCAAGCAATATCAAAACTAGGGTTTTGTGACTGACTAGGTGTGGGGCTGGGGAATAACCATCTCTAGCTTGTGGATCGTTTTGTCTCCCTTTTTATTCCTAGCAGCTCTAGCTGTTGAGAGACACAGCAACCAGAAGAGGAATTTGAAATTAGTCTGTTTTGGTCCTTATTGACAGCTTTGAAAAAGACTGAGGGAGAAAAGTTAAAATTATATTGAACTTTTAGGATTCCTGGTGGATGTCAATGGCCTTCGCTAACTCCCTTCTCCAGACTCACAACTATCACAAAGTACTGGCCACTGTGTCACTCACGCCATTCAAGGCCCAATCACACAATAGCATAACCCTATTTCCCTCCCTCCCTGCTCAGAGGCCTTTCAAATAAGTTATGGGGAATCATCTGTCAACTCAACATAGAACTTCTATGCTGAGAAATATAGAGCTGTCCAGTGGTGTGGGGGCTTCCTAGGAGGTAGTGAATGTCCCTGCACACAAGTGTGGAAGGAGAGGTTGGGGGAGTGCTGGTCAGAGACATGGAAGTGACCAGCAGAGCAGGATTGAGTGGGGCCTCCCCAACGCCTGCCATCTTGAACCCACCGTTGGGTCCTCCCAGGGGAGCTAGTCTTCTTAGGACAGGGGCGCGTAGGCACTTACGGAAGCCACCCTTCCTTCAGGCAGCGGTTGCCAAAGCCTGGCTTATTCAGGAGGACGTCTGCAAGTACCGTGAACTGCTCACTGCCTGGTTCATCCATGCTAGACAGAGTGAGACATGTGACTGGGACAGAGCAGGCGCGTGCCAACATCATGCAACTCAGAGCCTTTACTGGATAGCTGCTGTGTGCCAGGTATGTATTGGAGGCACCGAATGCTGCCTTGGGATGGCGCTAGCTCTCCTGGGAGTGCGGTAGGCTGCCTGAACACTCGCAGTGGTCTGATGGCATGTCACCTATGCCTCAAAAAGATGGCGCTTCAACCCATTCACCTAAGCTTTGCATTCCTTTCCCCATTCGGCCTTCCCAAGCAGTCCTGCCTGTCCACTAGGATCGCCTTTCCAAGCAGTGGCAGATACATTAAGTTCCTTTCTGCAGGCAGCCCAAAGACCCCTCCCCTCTCTCATTGGTGAAGGTCCCAGTGAAGTGGGAAGGTCAGGGCCCTTCTAAGCAGCATGTGACCCAGGTGCCCCAAACCCACAGAGGAGAATGGTGACCCCGAGTCCGCGCACCTGAAGAAGGTGTACTGCTGCCCATATATCCAGGGGTGAAGGGTCAAAGCGGGGTATTCGCCAAAAGGAGGGATAACAATAGAAAGCATCAGAGCCAAAAACACAAAGGTAGCCGGGAGCACGATCTGTGGGAGAATAGACGTGGAATAAACATGACTGTGGCATGGAGATGTCACACGTGCGCGTGCACACACATCTTCATTCTTTTAAACATTTATCCTGCAGCCTCCTAATCAGCCCCTGGTGGAGAGGGTTGGGCTTCTGGGGGAACATAATAAGCAGGGTGTGCAAAGGTAAGATGTGCAGAAGAAAACAGAATGTTCTGGTGGCCACTGAAGAATCTGAATGCAGCCCAGTGTTCAGCCAGACTTCAAAGGGCATTTCAAAGAGCAAGTCACGTGACTCACTGTTCTTTAAACCAGAGCTTCTTTTTCTAAATTAAACAACATTAAAAGAAAAAAGAGGGCAATGATTTTGATATGTAGGGTCACTGCAAAAATGAATGAAAACATGACTTTATCCCTCACTGTAAAAATAAAAACAATATTAACATTTTCACTATTATTC
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AACAAGCAAAGCTTCCTCTTGGGGCACAGAGGACTGAGACAAGTTCCTTGGGTCCTTCTTTTGGGATCCCTATGATGCAGCAGATGAGCTGTGATTCAAAGAGAGAAAATATTGCTTGAGAAATATAAAGATACATGCTTTAGAATATAAAAAAGAGCAGGGATCGGGTGTTCTTGGCCTAGAACCATTTATAAACCAGACTGTGATAGGTGCTGTGGCAAAATCTAGTTGCTCCCATTATTTGCTCCTCCCTGCTGCCTTAGCCATAGCCTTTTTTGTTGGGTTTGTAAGTGGAAGTACTATGTGGGAACTTCAGAAAACCTTCCCTAAACATAGCACATGTGCACACTCTGCCCTCTGTTTTGCTTCATCCTTCTTCCATTCCGCTGCCTGGAAGGCAGCTCCTGCCTTATTGGCTGATGAGGCTGAGGCCTGTTTAGTGTGGAGGAGAAAGAGAATAGAACATCGTGCACCACCCACGTAGACTTTTAGATGAGTGAGAAACAAGTTGTGTCTTGTTTTATCTGCTGTTAGTTTGGGGTTGTCATCACTTGAGTTGAATCTAATTCTAAATAATTCCTTGCCCACATGATTTCATTAAATCCTCATAATAATATTATGAAATAAGCAGTTATTCCCAATTCACAGGTGATAAAATTAAGGCTCAGAGAGGTCAAGTAGTCCACCTGGGGCTCTCCGTGTCCCATACCTGTGCTTTCCCACTGAACTGCATAGCCTGTTTGGGAACAGTTTATTCATTGACAAATCATTGGACAGGGCTGTCTAAGGCCCAGCCCTGGCAAGTCAGCTGGGAGGCCCATTATCAACCACGGACACAGCCTTCTTTGATGTCTCTAAATCCCCCAGGAGATGCTCACTGTAATCTGTTCTGGACTTTAGAACTCCCAGGACAGGGTGCTGCTCAGAGCCAAGATCATTAATGTCCCTGCAAAAGATGGATGCTGGCTGTGCATGTATTTGTGTACATACCTGCAGATGTTAGAGACACAGCACATGGAGAGCTTCTTAATTAAGACTGTTAATAAGTGTGTAAACACATTTCCATTTGAATGTACATCATAGCATTGCTTATAATGGTGAAAACTAAAAAACCTAAGTGGCGAATAATGGGAGATCAGTTAATTTAAAGTAACTTTAGGCCAGGAGCAGTGGCTGACGCTTGTAATCCTAGCACTCTGGTAGGCAGAAGTGGGTAGATCACTTGAGGCCAGGAGTTCAACACCAGCCTGGCCAACATGGTAAAACCCCATCTGTACTAAAACTACCAAAAAAATTAGGCGGGCATGATGGTGCATGCCTGTAATCCCCACTACTCGGGGGGGCTGAGGCACAAGAATTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCGCTGCACTCCAACCTGGGTGACAGAGAGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAATTCAAACAATGGGATAATATACAGATATTAAAAGTGATGCAGATGTCTATTTATTGACATGGATGCATGTTCCTAGTAAATTATGCAGTAAATCAGATTTTAAGACAATATTTGGAATATAATCTGTTTGGGTGGCTGCAAACCAAACATTATCTGTGTTTATATCCAAGCGATGATTTTTTTTCCTTCTGACTTACCTGTGTTTTCTAATTTTTCTATAATGAGCACATATGACTTAATTTTTTTTAGTGCTTAAACACATTTTTTCTACTAGATCAAATAGGAAGTATCTGGTGGAAAATGAAGCTTTTGGTGAGTGGCTTCCTCCAGTTGGCAGCCACAGCGCCCTGTGGGGAGCCCCTCCCAGAGGGTGCAGGGAGTTTGGTTTAGTCCCCTACTCAACTGCCAGTTTGAAATGTTAGTTTGTGAGAGACTCAGGAGATACCAGGGACTCCCCTAGTCCCTCTGTGGCAGGCAGACCTGGGGCCCCGTTGTTTGGAGGTCAGGTACCTGGGGGGGCGGGAGGCCCCCGGCACCCTCGGGGCACTCTGGCAGCATGGTGAGCTTCTCCCTGGTGCTGTACCTGCAGGATGGTGAAGGGTTGACCTGTGTCCATTTCTGCTTCTGGAACAGCTGGGTGATGTTTGGGGACACAGAAGGAGTCTTCCAGGGTGTTGAGTTGCCACAGGGGTACTCCCTCATGGAAGACAAGAAAATATTCCATAATCAGCCTCAAAGTTGCTGACAAATCCCTAGGCATAAGAAATTGTGCCCAACCCTTTCCTCCTCCTCTTTAGACCCAGGCCCTTTCTTCTTATTCTCTTGGAGGCTGGTTTCTGCTCAAGCAATATCAAAACTAGGGTTTTGTGACTGACTAGGTGTGGGGCTGGGGAATAACCATCTCTAGCTTGTGGATCGTTTTGTCTCCCTTTTTATTCCTAGCAGCTCTAGCTGTTGAGAGACACAGCAACCAGAAGAGGAATTTGAAATTAGTCTGTTTTGGTCCTTATTGACAGCTTTGAAAAAGACTGAGGGAGAAAAGTTAAAATTATATTGAACTTTTAGGATTCCTGGTGGATGTCAATGGCCTTCGCTAACTCCCTTCTCCAGACTCACAACTATCACAAAGTACTGGCCACTGTGTCACTCACGCCATTCAAGGCCCAATCACACAATAGCATAACCCTATTTCCCTCCCTCCCTGCTCAGAGGCCTTTCAAATAAGTTATGGGGAATCATCTGTCAACTCAACATAGAACTTCTATGCTGAGAAATATAGAGCTGTCCAGTGGTGTGGGGGCTTCCTAGGAGGTAGTGAATGTCCCTGCACACAAGTGTGGAAGGAGAGGTTGGGGGAGTGCTGGTCAGAGACATGGAAGTGACCAGCAGAGCAGGATTGAGTGGGGCCTCCCCAACGCCTGCCATCTTGAACCCACCGTTGGGTCCTCCCAGGGGAGCTAGTCTTCTTAGGACAGGGGCGCGTAGGCACTTACGGAAGCCACCCTTCCTTCAGGCAGCGGTTGCCAAAGCCTGGCTTATTCAGGAGGACGTCTGCAAGTACCGTGAACTGCTCACTGCCTGGTTCATCCATGCTAGACAGAGTGAGACATGTGACTGGGACAGAGCAGGCGCGTGCCAACATCATGCAACTCAGAGCCTTTACTGGATAGCTGCTGTGTGCCAGGTATGTATTGGAGGCACCGAATGCTGCCTTGGGATGGCGCTAGCTCTCCTGGGAGTGCGGTAGGCTGCCTGAACACTCGCAGTGGTCTGATGGCATGTCACCTATGCCTCAAAAAGATGGCGCTTCAACCCATTCACCTAAGCTTTGCATTCCTTTCCCCATTCGGCCTTCCCAAGCAGTCCTGCCTGTCCACTAGGATCGCCTTTCCAAGCAGTGGCAGATACATTAAGTTCCTTTCTGCAGGCAGCCCAAAGACCCCTCCCCTCTCTCATTGGTGAAGGTCCCAGTGAAGTGGGAAGGTCAGGGCCCTTCTAAGCAGCATGTGACCCAGGTGCCCCAAACCCACAGAGGAGAATGGTGACCCCGAGTCCGCGCACCTGAAGAAGGTGTACTGCTGCCCATATATCCAGGGGTGAAGGGTCAAAGCGGGGTATTCGCCAAAAGGAGGGATAACAATAGAAAGCATCAGAGCCAAAAACACAAAGGTAGCCGGGAGCACGATCTGTGGGAGAATAGACGTGGAATAAACATGACTGTGGCATGGAGATGTCACACGTGCGCGTGCACACACATCTTCATTCTTTTAAACATTTATCCTGCAGCCTCCTAATCAGCCCCTGGTGGAGAGGGTTGGGCTTCTGGGGGAACATAATAAGCAGGGTGTGCAAAGGTAAGATGTGCAGAAGAAAACAGAATGTTCTGGTGGCCACTGAAGAATCTGAATGCAGCCCAGTGTTCAGCCAGACTTCAAAGGGCATTTCAAAGAGCAAGTCACGTGACTCACTGTTCTTTAAACCAGAGCTTCTTTTTCTAAATTAAACAACATTAAAAGAAAAAAGAGGGCAATGATTTTGATATGTAGGGTCACTGCAAAAATGAATGAAAACATGACTTTATCCCTCACTGTAAAAATAAAAACAATATTAACATTTTCACTATTATTC
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Task1_train_1172
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A variant affecting Chromosome 1, within the gene ABCA4 (ATP binding cassette subfamily A member 4), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Severe early-childhood-onset retinal dystrophy
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AACAAGCAAAGCTTCCTCTTGGGGCACAGAGGACTGAGACAAGTTCCTTGGGTCCTTCTTTTGGGATCCCTATGATGCAGCAGATGAGCTGTGATTCAAAGAGAGAAAATATTGCTTGAGAAATATAAAGATACATGCTTTAGAATATAAAAAAGAGCAGGGATCGGGTGTTCTTGGCCTAGAACCATTTATAAACCAGACTGTGATAGGTGCTGTGGCAAAATCTAGTTGCTCCCATTATTTGCTCCTCCCTGCTGCCTTAGCCATAGCCTTTTTTGTTGGGTTTGTAAGTGGAAGTACTATGTGGGAACTTCAGAAAACCTTCCCTAAACATAGCACATGTGCACACTCTGCCCTCTGTTTTGCTTCATCCTTCTTCCATTCCGCTGCCTGGAAGGCAGCTCCTGCCTTATTGGCTGATGAGGCTGAGGCCTGTTTAGTGTGGAGGAGAAAGAGAATAGAACATCGTGCACCACCCACGTAGACTTTTAGATGAGTGAGAAACAAGTTGTGTCTTGTTTTATCTGCTGTTAGTTTGGGGTTGTCATCACTTGAGTTGAATCTAATTCTAAATAATTCCTTGCCCACATGATTTCATTAAATCCTCATAATAATATTATGAAATAAGCAGTTATTCCCAATTCACAGGTGATAAAATTAAGGCTCAGAGAGGTCAAGTAGTCCACCTGGGGCTCTCCGTGTCCCATACCTGTGCTTTCCCACTGAACTGCATAGCCTGTTTGGGAACAGTTTATTCATTGACAAATCATTGGACAGGGCTGTCTAAGGCCCAGCCCTGGCAAGTCAGCTGGGAGGCCCATTATCAACCACGGACACAGCCTTCTTTGATGTCTCTAAATCCCCCAGGAGATGCTCACTGTAATCTGTTCTGGACTTTAGAACTCCCAGGACAGGGTGCTGCTCAGAGCCAAGATCATTAATGTCCCTGCAAAAGATGGATGCTGGCTGTGCATGTATTTGTGTACATACCTGCAGATGTTAGAGACACAGCACATGGAGAGCTTCTTAATTAAGACTGTTAATAAGTGTGTAAACACATTTCCATTTGAATGTACATCATAGCATTGCTTATAATGGTGAAAACTAAAAAACCTAAGTGGCGAATAATGGGAGATCAGTTAATTTAAAGTAACTTTAGGCCAGGAGCAGTGGCTGACGCTTGTAATCCTAGCACTCTGGTAGGCAGAAGTGGGTAGATCACTTGAGGCCAGGAGTTCAACACCAGCCTGGCCAACATGGTAAAACCCCATCTGTACTAAAACTACCAAAAAAATTAGGCGGGCATGATGGTGCATGCCTGTAATCCCCACTACTCGGGGGGGCTGAGGCACAAGAATTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCGCTGCACTCCAACCTGGGTGACAGAGAGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAATTCAAACAATGGGATAATATACAGATATTAAAAGTGATGCAGATGTCTATTTATTGACATGGATGCATGTTCCTAGTAAATTATGCAGTAAATCAGATTTTAAGACAATATTTGGAATATAATCTGTTTGGGTGGCTGCAAACCAAACATTATCTGTGTTTATATCCAAGCGATGATTTTTTTTCCTTCTGACTTACCTGTGTTTTCTAATTTTTCTATAATGAGCACATATGACTTAATTTTTTTTAGTGCTTAAACACATTTTTTCTACTAGATCAAATAGGAAGTATCTGGTGGAAAATGAAGCTTTTGGTGAGTGGCTTCCTCCAGTTGGCAGCCACAGCGCCCTGTGGGGAGCCCCTCCCAGAGGGTGCAGGGAGTTTGGTTTAGTCCCCTACTCAACTGCCAGTTTGAAATGTTAGTTTGTGAGAGACTCAGGAGATACCAGGGACTCCCCTAGTCCCTCTGTGGCAGGCAGACCTGGGGCCCCGTTGTTTGGAGGTCAGGTACCTGGGGGGGCGGGAGGCCCCCGGCACCCTCGGGGCACTCTGGCAGCATGGTGAGCTTCTCCCTGGTGCTGCACCTGCAGGATGGTGAAGGGTTGACCTGTGTCCATTTCTGCTTCTGGAACAGCTGGGTGATGTTTGGGGACACAGAAGGAGTCTTCCAGGGTGTTGAGTTGCCACAGGGGTACTCCCTCATGGAAGACAAGAAAATATTCCATAATCAGCCTCAAAGTTGCTGACAAATCCCTAGGCATAAGAAATTGTGCCCAACCCTTTCCTCCTCCTCTTTAGACCCAGGCCCTTTCTTCTTATTCTCTTGGAGGCTGGTTTCTGCTCAAGCAATATCAAAACTAGGGTTTTGTGACTGACTAGGTGTGGGGCTGGGGAATAACCATCTCTAGCTTGTGGATCGTTTTGTCTCCCTTTTTATTCCTAGCAGCTCTAGCTGTTGAGAGACACAGCAACCAGAAGAGGAATTTGAAATTAGTCTGTTTTGGTCCTTATTGACAGCTTTGAAAAAGACTGAGGGAGAAAAGTTAAAATTATATTGAACTTTTAGGATTCCTGGTGGATGTCAATGGCCTTCGCTAACTCCCTTCTCCAGACTCACAACTATCACAAAGTACTGGCCACTGTGTCACTCACGCCATTCAAGGCCCAATCACACAATAGCATAACCCTATTTCCCTCCCTCCCTGCTCAGAGGCCTTTCAAATAAGTTATGGGGAATCATCTGTCAACTCAACATAGAACTTCTATGCTGAGAAATATAGAGCTGTCCAGTGGTGTGGGGGCTTCCTAGGAGGTAGTGAATGTCCCTGCACACAAGTGTGGAAGGAGAGGTTGGGGGAGTGCTGGTCAGAGACATGGAAGTGACCAGCAGAGCAGGATTGAGTGGGGCCTCCCCAACGCCTGCCATCTTGAACCCACCGTTGGGTCCTCCCAGGGGAGCTAGTCTTCTTAGGACAGGGGCGCGTAGGCACTTACGGAAGCCACCCTTCCTTCAGGCAGCGGTTGCCAAAGCCTGGCTTATTCAGGAGGACGTCTGCAAGTACCGTGAACTGCTCACTGCCTGGTTCATCCATGCTAGACAGAGTGAGACATGTGACTGGGACAGAGCAGGCGCGTGCCAACATCATGCAACTCAGAGCCTTTACTGGATAGCTGCTGTGTGCCAGGTATGTATTGGAGGCACCGAATGCTGCCTTGGGATGGCGCTAGCTCTCCTGGGAGTGCGGTAGGCTGCCTGAACACTCGCAGTGGTCTGATGGCATGTCACCTATGCCTCAAAAAGATGGCGCTTCAACCCATTCACCTAAGCTTTGCATTCCTTTCCCCATTCGGCCTTCCCAAGCAGTCCTGCCTGTCCACTAGGATCGCCTTTCCAAGCAGTGGCAGATACATTAAGTTCCTTTCTGCAGGCAGCCCAAAGACCCCTCCCCTCTCTCATTGGTGAAGGTCCCAGTGAAGTGGGAAGGTCAGGGCCCTTCTAAGCAGCATGTGACCCAGGTGCCCCAAACCCACAGAGGAGAATGGTGACCCCGAGTCCGCGCACCTGAAGAAGGTGTACTGCTGCCCATATATCCAGGGGTGAAGGGTCAAAGCGGGGTATTCGCCAAAAGGAGGGATAACAATAGAAAGCATCAGAGCCAAAAACACAAAGGTAGCCGGGAGCACGATCTGTGGGAGAATAGACGTGGAATAAACATGACTGTGGCATGGAGATGTCACACGTGCGCGTGCACACACATCTTCATTCTTTTAAACATTTATCCTGCAGCCTCCTAATCAGCCCCTGGTGGAGAGGGTTGGGCTTCTGGGGGAACATAATAAGCAGGGTGTGCAAAGGTAAGATGTGCAGAAGAAAACAGAATGTTCTGGTGGCCACTGAAGAATCTGAATGCAGCCCAGTGTTCAGCCAGACTTCAAAGGGCATTTCAAAGAGCAAGTCACGTGACTCACTGTTCTTTAAACCAGAGCTTCTTTTTCTAAATTAAACAACATTAAAAGAAAAAAGAGGGCAATGATTTTGATATGTAGGGTCACTGCAAAAATGAATGAAAACATGACTTTATCCCTCACTGTAAAAATAAAAACAATATTAACATTTTCACTATTATTC
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AACAAGCAAAGCTTCCTCTTGGGGCACAGAGGACTGAGACAAGTTCCTTGGGTCCTTCTTTTGGGATCCCTATGATGCAGCAGATGAGCTGTGATTCAAAGAGAGAAAATATTGCTTGAGAAATATAAAGATACATGCTTTAGAATATAAAAAAGAGCAGGGATCGGGTGTTCTTGGCCTAGAACCATTTATAAACCAGACTGTGATAGGTGCTGTGGCAAAATCTAGTTGCTCCCATTATTTGCTCCTCCCTGCTGCCTTAGCCATAGCCTTTTTTGTTGGGTTTGTAAGTGGAAGTACTATGTGGGAACTTCAGAAAACCTTCCCTAAACATAGCACATGTGCACACTCTGCCCTCTGTTTTGCTTCATCCTTCTTCCATTCCGCTGCCTGGAAGGCAGCTCCTGCCTTATTGGCTGATGAGGCTGAGGCCTGTTTAGTGTGGAGGAGAAAGAGAATAGAACATCGTGCACCACCCACGTAGACTTTTAGATGAGTGAGAAACAAGTTGTGTCTTGTTTTATCTGCTGTTAGTTTGGGGTTGTCATCACTTGAGTTGAATCTAATTCTAAATAATTCCTTGCCCACATGATTTCATTAAATCCTCATAATAATATTATGAAATAAGCAGTTATTCCCAATTCACAGGTGATAAAATTAAGGCTCAGAGAGGTCAAGTAGTCCACCTGGGGCTCTCCGTGTCCCATACCTGTGCTTTCCCACTGAACTGCATAGCCTGTTTGGGAACAGTTTATTCATTGACAAATCATTGGACAGGGCTGTCTAAGGCCCAGCCCTGGCAAGTCAGCTGGGAGGCCCATTATCAACCACGGACACAGCCTTCTTTGATGTCTCTAAATCCCCCAGGAGATGCTCACTGTAATCTGTTCTGGACTTTAGAACTCCCAGGACAGGGTGCTGCTCAGAGCCAAGATCATTAATGTCCCTGCAAAAGATGGATGCTGGCTGTGCATGTATTTGTGTACATACCTGCAGATGTTAGAGACACAGCACATGGAGAGCTTCTTAATTAAGACTGTTAATAAGTGTGTAAACACATTTCCATTTGAATGTACATCATAGCATTGCTTATAATGGTGAAAACTAAAAAACCTAAGTGGCGAATAATGGGAGATCAGTTAATTTAAAGTAACTTTAGGCCAGGAGCAGTGGCTGACGCTTGTAATCCTAGCACTCTGGTAGGCAGAAGTGGGTAGATCACTTGAGGCCAGGAGTTCAACACCAGCCTGGCCAACATGGTAAAACCCCATCTGTACTAAAACTACCAAAAAAATTAGGCGGGCATGATGGTGCATGCCTGTAATCCCCACTACTCGGGGGGGCTGAGGCACAAGAATTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCGCTGCACTCCAACCTGGGTGACAGAGAGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAATTCAAACAATGGGATAATATACAGATATTAAAAGTGATGCAGATGTCTATTTATTGACATGGATGCATGTTCCTAGTAAATTATGCAGTAAATCAGATTTTAAGACAATATTTGGAATATAATCTGTTTGGGTGGCTGCAAACCAAACATTATCTGTGTTTATATCCAAGCGATGATTTTTTTTCCTTCTGACTTACCTGTGTTTTCTAATTTTTCTATAATGAGCACATATGACTTAATTTTTTTTAGTGCTTAAACACATTTTTTCTACTAGATCAAATAGGAAGTATCTGGTGGAAAATGAAGCTTTTGGTGAGTGGCTTCCTCCAGTTGGCAGCCACAGCGCCCTGTGGGGAGCCCCTCCCAGAGGGTGCAGGGAGTTTGGTTTAGTCCCCTACTCAACTGCCAGTTTGAAATGTTAGTTTGTGAGAGACTCAGGAGATACCAGGGACTCCCCTAGTCCCTCTGTGGCAGGCAGACCTGGGGCCCCGTTGTTTGGAGGTCAGGTACCTGGGGGGGCGGGAGGCCCCCGGCACCCTCGGGGCACTCTGGCAGCATGGTGAGCTTCTCCCTGGTGCTGTACCTGCAGGATGGTGAAGGGTTGACCTGTGTCCATTTCTGCTTCTGGAACAGCTGGGTGATGTTTGGGGACACAGAAGGAGTCTTCCAGGGTGTTGAGTTGCCACAGGGGTACTCCCTCATGGAAGACAAGAAAATATTCCATAATCAGCCTCAAAGTTGCTGACAAATCCCTAGGCATAAGAAATTGTGCCCAACCCTTTCCTCCTCCTCTTTAGACCCAGGCCCTTTCTTCTTATTCTCTTGGAGGCTGGTTTCTGCTCAAGCAATATCAAAACTAGGGTTTTGTGACTGACTAGGTGTGGGGCTGGGGAATAACCATCTCTAGCTTGTGGATCGTTTTGTCTCCCTTTTTATTCCTAGCAGCTCTAGCTGTTGAGAGACACAGCAACCAGAAGAGGAATTTGAAATTAGTCTGTTTTGGTCCTTATTGACAGCTTTGAAAAAGACTGAGGGAGAAAAGTTAAAATTATATTGAACTTTTAGGATTCCTGGTGGATGTCAATGGCCTTCGCTAACTCCCTTCTCCAGACTCACAACTATCACAAAGTACTGGCCACTGTGTCACTCACGCCATTCAAGGCCCAATCACACAATAGCATAACCCTATTTCCCTCCCTCCCTGCTCAGAGGCCTTTCAAATAAGTTATGGGGAATCATCTGTCAACTCAACATAGAACTTCTATGCTGAGAAATATAGAGCTGTCCAGTGGTGTGGGGGCTTCCTAGGAGGTAGTGAATGTCCCTGCACACAAGTGTGGAAGGAGAGGTTGGGGGAGTGCTGGTCAGAGACATGGAAGTGACCAGCAGAGCAGGATTGAGTGGGGCCTCCCCAACGCCTGCCATCTTGAACCCACCGTTGGGTCCTCCCAGGGGAGCTAGTCTTCTTAGGACAGGGGCGCGTAGGCACTTACGGAAGCCACCCTTCCTTCAGGCAGCGGTTGCCAAAGCCTGGCTTATTCAGGAGGACGTCTGCAAGTACCGTGAACTGCTCACTGCCTGGTTCATCCATGCTAGACAGAGTGAGACATGTGACTGGGACAGAGCAGGCGCGTGCCAACATCATGCAACTCAGAGCCTTTACTGGATAGCTGCTGTGTGCCAGGTATGTATTGGAGGCACCGAATGCTGCCTTGGGATGGCGCTAGCTCTCCTGGGAGTGCGGTAGGCTGCCTGAACACTCGCAGTGGTCTGATGGCATGTCACCTATGCCTCAAAAAGATGGCGCTTCAACCCATTCACCTAAGCTTTGCATTCCTTTCCCCATTCGGCCTTCCCAAGCAGTCCTGCCTGTCCACTAGGATCGCCTTTCCAAGCAGTGGCAGATACATTAAGTTCCTTTCTGCAGGCAGCCCAAAGACCCCTCCCCTCTCTCATTGGTGAAGGTCCCAGTGAAGTGGGAAGGTCAGGGCCCTTCTAAGCAGCATGTGACCCAGGTGCCCCAAACCCACAGAGGAGAATGGTGACCCCGAGTCCGCGCACCTGAAGAAGGTGTACTGCTGCCCATATATCCAGGGGTGAAGGGTCAAAGCGGGGTATTCGCCAAAAGGAGGGATAACAATAGAAAGCATCAGAGCCAAAAACACAAAGGTAGCCGGGAGCACGATCTGTGGGAGAATAGACGTGGAATAAACATGACTGTGGCATGGAGATGTCACACGTGCGCGTGCACACACATCTTCATTCTTTTAAACATTTATCCTGCAGCCTCCTAATCAGCCCCTGGTGGAGAGGGTTGGGCTTCTGGGGGAACATAATAAGCAGGGTGTGCAAAGGTAAGATGTGCAGAAGAAAACAGAATGTTCTGGTGGCCACTGAAGAATCTGAATGCAGCCCAGTGTTCAGCCAGACTTCAAAGGGCATTTCAAAGAGCAAGTCACGTGACTCACTGTTCTTTAAACCAGAGCTTCTTTTTCTAAATTAAACAACATTAAAAGAAAAAAGAGGGCAATGATTTTGATATGTAGGGTCACTGCAAAAATGAATGAAAACATGACTTTATCCCTCACTGTAAAAATAAAAACAATATTAACATTTTCACTATTATTC
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Task1_train_1173
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A variant was discovered on Chromosome 1, affecting ABCA4 (ATP binding cassette subfamily A member 4). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Retinitis pigmentosa 19
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AACAAGCAAAGCTTCCTCTTGGGGCACAGAGGACTGAGACAAGTTCCTTGGGTCCTTCTTTTGGGATCCCTATGATGCAGCAGATGAGCTGTGATTCAAAGAGAGAAAATATTGCTTGAGAAATATAAAGATACATGCTTTAGAATATAAAAAAGAGCAGGGATCGGGTGTTCTTGGCCTAGAACCATTTATAAACCAGACTGTGATAGGTGCTGTGGCAAAATCTAGTTGCTCCCATTATTTGCTCCTCCCTGCTGCCTTAGCCATAGCCTTTTTTGTTGGGTTTGTAAGTGGAAGTACTATGTGGGAACTTCAGAAAACCTTCCCTAAACATAGCACATGTGCACACTCTGCCCTCTGTTTTGCTTCATCCTTCTTCCATTCCGCTGCCTGGAAGGCAGCTCCTGCCTTATTGGCTGATGAGGCTGAGGCCTGTTTAGTGTGGAGGAGAAAGAGAATAGAACATCGTGCACCACCCACGTAGACTTTTAGATGAGTGAGAAACAAGTTGTGTCTTGTTTTATCTGCTGTTAGTTTGGGGTTGTCATCACTTGAGTTGAATCTAATTCTAAATAATTCCTTGCCCACATGATTTCATTAAATCCTCATAATAATATTATGAAATAAGCAGTTATTCCCAATTCACAGGTGATAAAATTAAGGCTCAGAGAGGTCAAGTAGTCCACCTGGGGCTCTCCGTGTCCCATACCTGTGCTTTCCCACTGAACTGCATAGCCTGTTTGGGAACAGTTTATTCATTGACAAATCATTGGACAGGGCTGTCTAAGGCCCAGCCCTGGCAAGTCAGCTGGGAGGCCCATTATCAACCACGGACACAGCCTTCTTTGATGTCTCTAAATCCCCCAGGAGATGCTCACTGTAATCTGTTCTGGACTTTAGAACTCCCAGGACAGGGTGCTGCTCAGAGCCAAGATCATTAATGTCCCTGCAAAAGATGGATGCTGGCTGTGCATGTATTTGTGTACATACCTGCAGATGTTAGAGACACAGCACATGGAGAGCTTCTTAATTAAGACTGTTAATAAGTGTGTAAACACATTTCCATTTGAATGTACATCATAGCATTGCTTATAATGGTGAAAACTAAAAAACCTAAGTGGCGAATAATGGGAGATCAGTTAATTTAAAGTAACTTTAGGCCAGGAGCAGTGGCTGACGCTTGTAATCCTAGCACTCTGGTAGGCAGAAGTGGGTAGATCACTTGAGGCCAGGAGTTCAACACCAGCCTGGCCAACATGGTAAAACCCCATCTGTACTAAAACTACCAAAAAAATTAGGCGGGCATGATGGTGCATGCCTGTAATCCCCACTACTCGGGGGGGCTGAGGCACAAGAATTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCGCTGCACTCCAACCTGGGTGACAGAGAGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAATTCAAACAATGGGATAATATACAGATATTAAAAGTGATGCAGATGTCTATTTATTGACATGGATGCATGTTCCTAGTAAATTATGCAGTAAATCAGATTTTAAGACAATATTTGGAATATAATCTGTTTGGGTGGCTGCAAACCAAACATTATCTGTGTTTATATCCAAGCGATGATTTTTTTTCCTTCTGACTTACCTGTGTTTTCTAATTTTTCTATAATGAGCACATATGACTTAATTTTTTTTAGTGCTTAAACACATTTTTTCTACTAGATCAAATAGGAAGTATCTGGTGGAAAATGAAGCTTTTGGTGAGTGGCTTCCTCCAGTTGGCAGCCACAGCGCCCTGTGGGGAGCCCCTCCCAGAGGGTGCAGGGAGTTTGGTTTAGTCCCCTACTCAACTGCCAGTTTGAAATGTTAGTTTGTGAGAGACTCAGGAGATACCAGGGACTCCCCTAGTCCCTCTGTGGCAGGCAGACCTGGGGCCCCGTTGTTTGGAGGTCAGGTACCTGGGGGGGCGGGAGGCCCCCGGCACCCTCGGGGCACTCTGGCAGCATGGTGAGCTTCTCCCTGGTGCTGCACCTGCAGGATGGTGAAGGGTTGACCTGTGTCCATTTCTGCTTCTGGAACAGCTGGGTGATGTTTGGGGACACAGAAGGAGTCTTCCAGGGTGTTGAGTTGCCACAGGGGTACTCCCTCATGGAAGACAAGAAAATATTCCATAATCAGCCTCAAAGTTGCTGACAAATCCCTAGGCATAAGAAATTGTGCCCAACCCTTTCCTCCTCCTCTTTAGACCCAGGCCCTTTCTTCTTATTCTCTTGGAGGCTGGTTTCTGCTCAAGCAATATCAAAACTAGGGTTTTGTGACTGACTAGGTGTGGGGCTGGGGAATAACCATCTCTAGCTTGTGGATCGTTTTGTCTCCCTTTTTATTCCTAGCAGCTCTAGCTGTTGAGAGACACAGCAACCAGAAGAGGAATTTGAAATTAGTCTGTTTTGGTCCTTATTGACAGCTTTGAAAAAGACTGAGGGAGAAAAGTTAAAATTATATTGAACTTTTAGGATTCCTGGTGGATGTCAATGGCCTTCGCTAACTCCCTTCTCCAGACTCACAACTATCACAAAGTACTGGCCACTGTGTCACTCACGCCATTCAAGGCCCAATCACACAATAGCATAACCCTATTTCCCTCCCTCCCTGCTCAGAGGCCTTTCAAATAAGTTATGGGGAATCATCTGTCAACTCAACATAGAACTTCTATGCTGAGAAATATAGAGCTGTCCAGTGGTGTGGGGGCTTCCTAGGAGGTAGTGAATGTCCCTGCACACAAGTGTGGAAGGAGAGGTTGGGGGAGTGCTGGTCAGAGACATGGAAGTGACCAGCAGAGCAGGATTGAGTGGGGCCTCCCCAACGCCTGCCATCTTGAACCCACCGTTGGGTCCTCCCAGGGGAGCTAGTCTTCTTAGGACAGGGGCGCGTAGGCACTTACGGAAGCCACCCTTCCTTCAGGCAGCGGTTGCCAAAGCCTGGCTTATTCAGGAGGACGTCTGCAAGTACCGTGAACTGCTCACTGCCTGGTTCATCCATGCTAGACAGAGTGAGACATGTGACTGGGACAGAGCAGGCGCGTGCCAACATCATGCAACTCAGAGCCTTTACTGGATAGCTGCTGTGTGCCAGGTATGTATTGGAGGCACCGAATGCTGCCTTGGGATGGCGCTAGCTCTCCTGGGAGTGCGGTAGGCTGCCTGAACACTCGCAGTGGTCTGATGGCATGTCACCTATGCCTCAAAAAGATGGCGCTTCAACCCATTCACCTAAGCTTTGCATTCCTTTCCCCATTCGGCCTTCCCAAGCAGTCCTGCCTGTCCACTAGGATCGCCTTTCCAAGCAGTGGCAGATACATTAAGTTCCTTTCTGCAGGCAGCCCAAAGACCCCTCCCCTCTCTCATTGGTGAAGGTCCCAGTGAAGTGGGAAGGTCAGGGCCCTTCTAAGCAGCATGTGACCCAGGTGCCCCAAACCCACAGAGGAGAATGGTGACCCCGAGTCCGCGCACCTGAAGAAGGTGTACTGCTGCCCATATATCCAGGGGTGAAGGGTCAAAGCGGGGTATTCGCCAAAAGGAGGGATAACAATAGAAAGCATCAGAGCCAAAAACACAAAGGTAGCCGGGAGCACGATCTGTGGGAGAATAGACGTGGAATAAACATGACTGTGGCATGGAGATGTCACACGTGCGCGTGCACACACATCTTCATTCTTTTAAACATTTATCCTGCAGCCTCCTAATCAGCCCCTGGTGGAGAGGGTTGGGCTTCTGGGGGAACATAATAAGCAGGGTGTGCAAAGGTAAGATGTGCAGAAGAAAACAGAATGTTCTGGTGGCCACTGAAGAATCTGAATGCAGCCCAGTGTTCAGCCAGACTTCAAAGGGCATTTCAAAGAGCAAGTCACGTGACTCACTGTTCTTTAAACCAGAGCTTCTTTTTCTAAATTAAACAACATTAAAAGAAAAAAGAGGGCAATGATTTTGATATGTAGGGTCACTGCAAAAATGAATGAAAACATGACTTTATCCCTCACTGTAAAAATAAAAACAATATTAACATTTTCACTATTATTC
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AACAAGCAAAGCTTCCTCTTGGGGCACAGAGGACTGAGACAAGTTCCTTGGGTCCTTCTTTTGGGATCCCTATGATGCAGCAGATGAGCTGTGATTCAAAGAGAGAAAATATTGCTTGAGAAATATAAAGATACATGCTTTAGAATATAAAAAAGAGCAGGGATCGGGTGTTCTTGGCCTAGAACCATTTATAAACCAGACTGTGATAGGTGCTGTGGCAAAATCTAGTTGCTCCCATTATTTGCTCCTCCCTGCTGCCTTAGCCATAGCCTTTTTTGTTGGGTTTGTAAGTGGAAGTACTATGTGGGAACTTCAGAAAACCTTCCCTAAACATAGCACATGTGCACACTCTGCCCTCTGTTTTGCTTCATCCTTCTTCCATTCCGCTGCCTGGAAGGCAGCTCCTGCCTTATTGGCTGATGAGGCTGAGGCCTGTTTAGTGTGGAGGAGAAAGAGAATAGAACATCGTGCACCACCCACGTAGACTTTTAGATGAGTGAGAAACAAGTTGTGTCTTGTTTTATCTGCTGTTAGTTTGGGGTTGTCATCACTTGAGTTGAATCTAATTCTAAATAATTCCTTGCCCACATGATTTCATTAAATCCTCATAATAATATTATGAAATAAGCAGTTATTCCCAATTCACAGGTGATAAAATTAAGGCTCAGAGAGGTCAAGTAGTCCACCTGGGGCTCTCCGTGTCCCATACCTGTGCTTTCCCACTGAACTGCATAGCCTGTTTGGGAACAGTTTATTCATTGACAAATCATTGGACAGGGCTGTCTAAGGCCCAGCCCTGGCAAGTCAGCTGGGAGGCCCATTATCAACCACGGACACAGCCTTCTTTGATGTCTCTAAATCCCCCAGGAGATGCTCACTGTAATCTGTTCTGGACTTTAGAACTCCCAGGACAGGGTGCTGCTCAGAGCCAAGATCATTAATGTCCCTGCAAAAGATGGATGCTGGCTGTGCATGTATTTGTGTACATACCTGCAGATGTTAGAGACACAGCACATGGAGAGCTTCTTAATTAAGACTGTTAATAAGTGTGTAAACACATTTCCATTTGAATGTACATCATAGCATTGCTTATAATGGTGAAAACTAAAAAACCTAAGTGGCGAATAATGGGAGATCAGTTAATTTAAAGTAACTTTAGGCCAGGAGCAGTGGCTGACGCTTGTAATCCTAGCACTCTGGTAGGCAGAAGTGGGTAGATCACTTGAGGCCAGGAGTTCAACACCAGCCTGGCCAACATGGTAAAACCCCATCTGTACTAAAACTACCAAAAAAATTAGGCGGGCATGATGGTGCATGCCTGTAATCCCCACTACTCGGGGGGGCTGAGGCACAAGAATTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCGCTGCACTCCAACCTGGGTGACAGAGAGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAATTCAAACAATGGGATAATATACAGATATTAAAAGTGATGCAGATGTCTATTTATTGACATGGATGCATGTTCCTAGTAAATTATGCAGTAAATCAGATTTTAAGACAATATTTGGAATATAATCTGTTTGGGTGGCTGCAAACCAAACATTATCTGTGTTTATATCCAAGCGATGATTTTTTTTCCTTCTGACTTACCTGTGTTTTCTAATTTTTCTATAATGAGCACATATGACTTAATTTTTTTTAGTGCTTAAACACATTTTTTCTACTAGATCAAATAGGAAGTATCTGGTGGAAAATGAAGCTTTTGGTGAGTGGCTTCCTCCAGTTGGCAGCCACAGCGCCCTGTGGGGAGCCCCTCCCAGAGGGTGCAGGGAGTTTGGTTTAGTCCCCTACTCAACTGCCAGTTTGAAATGTTAGTTTGTGAGAGACTCAGGAGATACCAGGGACTCCCCTAGTCCCTCTGTGGCAGGCAGACCTGGGGCCCCGTTGTTTGGAGGTCAGGTACCTGGGGGGGCGGGAGGCCCCCGGCACCCTCGGGGCACTCTGGCAGCATGGTGAGCTTCTCCCTGGTGCTGTACCTGCAGGATGGTGAAGGGTTGACCTGTGTCCATTTCTGCTTCTGGAACAGCTGGGTGATGTTTGGGGACACAGAAGGAGTCTTCCAGGGTGTTGAGTTGCCACAGGGGTACTCCCTCATGGAAGACAAGAAAATATTCCATAATCAGCCTCAAAGTTGCTGACAAATCCCTAGGCATAAGAAATTGTGCCCAACCCTTTCCTCCTCCTCTTTAGACCCAGGCCCTTTCTTCTTATTCTCTTGGAGGCTGGTTTCTGCTCAAGCAATATCAAAACTAGGGTTTTGTGACTGACTAGGTGTGGGGCTGGGGAATAACCATCTCTAGCTTGTGGATCGTTTTGTCTCCCTTTTTATTCCTAGCAGCTCTAGCTGTTGAGAGACACAGCAACCAGAAGAGGAATTTGAAATTAGTCTGTTTTGGTCCTTATTGACAGCTTTGAAAAAGACTGAGGGAGAAAAGTTAAAATTATATTGAACTTTTAGGATTCCTGGTGGATGTCAATGGCCTTCGCTAACTCCCTTCTCCAGACTCACAACTATCACAAAGTACTGGCCACTGTGTCACTCACGCCATTCAAGGCCCAATCACACAATAGCATAACCCTATTTCCCTCCCTCCCTGCTCAGAGGCCTTTCAAATAAGTTATGGGGAATCATCTGTCAACTCAACATAGAACTTCTATGCTGAGAAATATAGAGCTGTCCAGTGGTGTGGGGGCTTCCTAGGAGGTAGTGAATGTCCCTGCACACAAGTGTGGAAGGAGAGGTTGGGGGAGTGCTGGTCAGAGACATGGAAGTGACCAGCAGAGCAGGATTGAGTGGGGCCTCCCCAACGCCTGCCATCTTGAACCCACCGTTGGGTCCTCCCAGGGGAGCTAGTCTTCTTAGGACAGGGGCGCGTAGGCACTTACGGAAGCCACCCTTCCTTCAGGCAGCGGTTGCCAAAGCCTGGCTTATTCAGGAGGACGTCTGCAAGTACCGTGAACTGCTCACTGCCTGGTTCATCCATGCTAGACAGAGTGAGACATGTGACTGGGACAGAGCAGGCGCGTGCCAACATCATGCAACTCAGAGCCTTTACTGGATAGCTGCTGTGTGCCAGGTATGTATTGGAGGCACCGAATGCTGCCTTGGGATGGCGCTAGCTCTCCTGGGAGTGCGGTAGGCTGCCTGAACACTCGCAGTGGTCTGATGGCATGTCACCTATGCCTCAAAAAGATGGCGCTTCAACCCATTCACCTAAGCTTTGCATTCCTTTCCCCATTCGGCCTTCCCAAGCAGTCCTGCCTGTCCACTAGGATCGCCTTTCCAAGCAGTGGCAGATACATTAAGTTCCTTTCTGCAGGCAGCCCAAAGACCCCTCCCCTCTCTCATTGGTGAAGGTCCCAGTGAAGTGGGAAGGTCAGGGCCCTTCTAAGCAGCATGTGACCCAGGTGCCCCAAACCCACAGAGGAGAATGGTGACCCCGAGTCCGCGCACCTGAAGAAGGTGTACTGCTGCCCATATATCCAGGGGTGAAGGGTCAAAGCGGGGTATTCGCCAAAAGGAGGGATAACAATAGAAAGCATCAGAGCCAAAAACACAAAGGTAGCCGGGAGCACGATCTGTGGGAGAATAGACGTGGAATAAACATGACTGTGGCATGGAGATGTCACACGTGCGCGTGCACACACATCTTCATTCTTTTAAACATTTATCCTGCAGCCTCCTAATCAGCCCCTGGTGGAGAGGGTTGGGCTTCTGGGGGAACATAATAAGCAGGGTGTGCAAAGGTAAGATGTGCAGAAGAAAACAGAATGTTCTGGTGGCCACTGAAGAATCTGAATGCAGCCCAGTGTTCAGCCAGACTTCAAAGGGCATTTCAAAGAGCAAGTCACGTGACTCACTGTTCTTTAAACCAGAGCTTCTTTTTCTAAATTAAACAACATTAAAAGAAAAAAGAGGGCAATGATTTTGATATGTAGGGTCACTGCAAAAATGAATGAAAACATGACTTTATCCCTCACTGTAAAAATAAAAACAATATTAACATTTTCACTATTATTC
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Task1_train_1174
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Located on Chromosome 1, this mutation impacts ABCA4 (ATP binding cassette subfamily A member 4). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; ABCA4-related disorder
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AACAAGCAAAGCTTCCTCTTGGGGCACAGAGGACTGAGACAAGTTCCTTGGGTCCTTCTTTTGGGATCCCTATGATGCAGCAGATGAGCTGTGATTCAAAGAGAGAAAATATTGCTTGAGAAATATAAAGATACATGCTTTAGAATATAAAAAAGAGCAGGGATCGGGTGTTCTTGGCCTAGAACCATTTATAAACCAGACTGTGATAGGTGCTGTGGCAAAATCTAGTTGCTCCCATTATTTGCTCCTCCCTGCTGCCTTAGCCATAGCCTTTTTTGTTGGGTTTGTAAGTGGAAGTACTATGTGGGAACTTCAGAAAACCTTCCCTAAACATAGCACATGTGCACACTCTGCCCTCTGTTTTGCTTCATCCTTCTTCCATTCCGCTGCCTGGAAGGCAGCTCCTGCCTTATTGGCTGATGAGGCTGAGGCCTGTTTAGTGTGGAGGAGAAAGAGAATAGAACATCGTGCACCACCCACGTAGACTTTTAGATGAGTGAGAAACAAGTTGTGTCTTGTTTTATCTGCTGTTAGTTTGGGGTTGTCATCACTTGAGTTGAATCTAATTCTAAATAATTCCTTGCCCACATGATTTCATTAAATCCTCATAATAATATTATGAAATAAGCAGTTATTCCCAATTCACAGGTGATAAAATTAAGGCTCAGAGAGGTCAAGTAGTCCACCTGGGGCTCTCCGTGTCCCATACCTGTGCTTTCCCACTGAACTGCATAGCCTGTTTGGGAACAGTTTATTCATTGACAAATCATTGGACAGGGCTGTCTAAGGCCCAGCCCTGGCAAGTCAGCTGGGAGGCCCATTATCAACCACGGACACAGCCTTCTTTGATGTCTCTAAATCCCCCAGGAGATGCTCACTGTAATCTGTTCTGGACTTTAGAACTCCCAGGACAGGGTGCTGCTCAGAGCCAAGATCATTAATGTCCCTGCAAAAGATGGATGCTGGCTGTGCATGTATTTGTGTACATACCTGCAGATGTTAGAGACACAGCACATGGAGAGCTTCTTAATTAAGACTGTTAATAAGTGTGTAAACACATTTCCATTTGAATGTACATCATAGCATTGCTTATAATGGTGAAAACTAAAAAACCTAAGTGGCGAATAATGGGAGATCAGTTAATTTAAAGTAACTTTAGGCCAGGAGCAGTGGCTGACGCTTGTAATCCTAGCACTCTGGTAGGCAGAAGTGGGTAGATCACTTGAGGCCAGGAGTTCAACACCAGCCTGGCCAACATGGTAAAACCCCATCTGTACTAAAACTACCAAAAAAATTAGGCGGGCATGATGGTGCATGCCTGTAATCCCCACTACTCGGGGGGGCTGAGGCACAAGAATTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCGCTGCACTCCAACCTGGGTGACAGAGAGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAATTCAAACAATGGGATAATATACAGATATTAAAAGTGATGCAGATGTCTATTTATTGACATGGATGCATGTTCCTAGTAAATTATGCAGTAAATCAGATTTTAAGACAATATTTGGAATATAATCTGTTTGGGTGGCTGCAAACCAAACATTATCTGTGTTTATATCCAAGCGATGATTTTTTTTCCTTCTGACTTACCTGTGTTTTCTAATTTTTCTATAATGAGCACATATGACTTAATTTTTTTTAGTGCTTAAACACATTTTTTCTACTAGATCAAATAGGAAGTATCTGGTGGAAAATGAAGCTTTTGGTGAGTGGCTTCCTCCAGTTGGCAGCCACAGCGCCCTGTGGGGAGCCCCTCCCAGAGGGTGCAGGGAGTTTGGTTTAGTCCCCTACTCAACTGCCAGTTTGAAATGTTAGTTTGTGAGAGACTCAGGAGATACCAGGGACTCCCCTAGTCCCTCTGTGGCAGGCAGACCTGGGGCCCCGTTGTTTGGAGGTCAGGTACCTGGGGGGGCGGGAGGCCCCCGGCACCCTCGGGGCACTCTGGCAGCATGGTGAGCTTCTCCCTGGTGCTGCACCTGCAGGATGGTGAAGGGTTGACCTGTGTCCATTTCTGCTTCTGGAACAGCTGGGTGATGTTTGGGGACACAGAAGGAGTCTTCCAGGGTGTTGAGTTGCCACAGGGGTACTCCCTCATGGAAGACAAGAAAATATTCCATAATCAGCCTCAAAGTTGCTGACAAATCCCTAGGCATAAGAAATTGTGCCCAACCCTTTCCTCCTCCTCTTTAGACCCAGGCCCTTTCTTCTTATTCTCTTGGAGGCTGGTTTCTGCTCAAGCAATATCAAAACTAGGGTTTTGTGACTGACTAGGTGTGGGGCTGGGGAATAACCATCTCTAGCTTGTGGATCGTTTTGTCTCCCTTTTTATTCCTAGCAGCTCTAGCTGTTGAGAGACACAGCAACCAGAAGAGGAATTTGAAATTAGTCTGTTTTGGTCCTTATTGACAGCTTTGAAAAAGACTGAGGGAGAAAAGTTAAAATTATATTGAACTTTTAGGATTCCTGGTGGATGTCAATGGCCTTCGCTAACTCCCTTCTCCAGACTCACAACTATCACAAAGTACTGGCCACTGTGTCACTCACGCCATTCAAGGCCCAATCACACAATAGCATAACCCTATTTCCCTCCCTCCCTGCTCAGAGGCCTTTCAAATAAGTTATGGGGAATCATCTGTCAACTCAACATAGAACTTCTATGCTGAGAAATATAGAGCTGTCCAGTGGTGTGGGGGCTTCCTAGGAGGTAGTGAATGTCCCTGCACACAAGTGTGGAAGGAGAGGTTGGGGGAGTGCTGGTCAGAGACATGGAAGTGACCAGCAGAGCAGGATTGAGTGGGGCCTCCCCAACGCCTGCCATCTTGAACCCACCGTTGGGTCCTCCCAGGGGAGCTAGTCTTCTTAGGACAGGGGCGCGTAGGCACTTACGGAAGCCACCCTTCCTTCAGGCAGCGGTTGCCAAAGCCTGGCTTATTCAGGAGGACGTCTGCAAGTACCGTGAACTGCTCACTGCCTGGTTCATCCATGCTAGACAGAGTGAGACATGTGACTGGGACAGAGCAGGCGCGTGCCAACATCATGCAACTCAGAGCCTTTACTGGATAGCTGCTGTGTGCCAGGTATGTATTGGAGGCACCGAATGCTGCCTTGGGATGGCGCTAGCTCTCCTGGGAGTGCGGTAGGCTGCCTGAACACTCGCAGTGGTCTGATGGCATGTCACCTATGCCTCAAAAAGATGGCGCTTCAACCCATTCACCTAAGCTTTGCATTCCTTTCCCCATTCGGCCTTCCCAAGCAGTCCTGCCTGTCCACTAGGATCGCCTTTCCAAGCAGTGGCAGATACATTAAGTTCCTTTCTGCAGGCAGCCCAAAGACCCCTCCCCTCTCTCATTGGTGAAGGTCCCAGTGAAGTGGGAAGGTCAGGGCCCTTCTAAGCAGCATGTGACCCAGGTGCCCCAAACCCACAGAGGAGAATGGTGACCCCGAGTCCGCGCACCTGAAGAAGGTGTACTGCTGCCCATATATCCAGGGGTGAAGGGTCAAAGCGGGGTATTCGCCAAAAGGAGGGATAACAATAGAAAGCATCAGAGCCAAAAACACAAAGGTAGCCGGGAGCACGATCTGTGGGAGAATAGACGTGGAATAAACATGACTGTGGCATGGAGATGTCACACGTGCGCGTGCACACACATCTTCATTCTTTTAAACATTTATCCTGCAGCCTCCTAATCAGCCCCTGGTGGAGAGGGTTGGGCTTCTGGGGGAACATAATAAGCAGGGTGTGCAAAGGTAAGATGTGCAGAAGAAAACAGAATGTTCTGGTGGCCACTGAAGAATCTGAATGCAGCCCAGTGTTCAGCCAGACTTCAAAGGGCATTTCAAAGAGCAAGTCACGTGACTCACTGTTCTTTAAACCAGAGCTTCTTTTTCTAAATTAAACAACATTAAAAGAAAAAAGAGGGCAATGATTTTGATATGTAGGGTCACTGCAAAAATGAATGAAAACATGACTTTATCCCTCACTGTAAAAATAAAAACAATATTAACATTTTCACTATTATTC
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AACAAGCAAAGCTTCCTCTTGGGGCACAGAGGACTGAGACAAGTTCCTTGGGTCCTTCTTTTGGGATCCCTATGATGCAGCAGATGAGCTGTGATTCAAAGAGAGAAAATATTGCTTGAGAAATATAAAGATACATGCTTTAGAATATAAAAAAGAGCAGGGATCGGGTGTTCTTGGCCTAGAACCATTTATAAACCAGACTGTGATAGGTGCTGTGGCAAAATCTAGTTGCTCCCATTATTTGCTCCTCCCTGCTGCCTTAGCCATAGCCTTTTTTGTTGGGTTTGTAAGTGGAAGTACTATGTGGGAACTTCAGAAAACCTTCCCTAAACATAGCACATGTGCACACTCTGCCCTCTGTTTTGCTTCATCCTTCTTCCATTCCGCTGCCTGGAAGGCAGCTCCTGCCTTATTGGCTGATGAGGCTGAGGCCTGTTTAGTGTGGAGGAGAAAGAGAATAGAACATCGTGCACCACCCACGTAGACTTTTAGATGAGTGAGAAACAAGTTGTGTCTTGTTTTATCTGCTGTTAGTTTGGGGTTGTCATCACTTGAGTTGAATCTAATTCTAAATAATTCCTTGCCCACATGATTTCATTAAATCCTCATAATAATATTATGAAATAAGCAGTTATTCCCAATTCACAGGTGATAAAATTAAGGCTCAGAGAGGTCAAGTAGTCCACCTGGGGCTCTCCGTGTCCCATACCTGTGCTTTCCCACTGAACTGCATAGCCTGTTTGGGAACAGTTTATTCATTGACAAATCATTGGACAGGGCTGTCTAAGGCCCAGCCCTGGCAAGTCAGCTGGGAGGCCCATTATCAACCACGGACACAGCCTTCTTTGATGTCTCTAAATCCCCCAGGAGATGCTCACTGTAATCTGTTCTGGACTTTAGAACTCCCAGGACAGGGTGCTGCTCAGAGCCAAGATCATTAATGTCCCTGCAAAAGATGGATGCTGGCTGTGCATGTATTTGTGTACATACCTGCAGATGTTAGAGACACAGCACATGGAGAGCTTCTTAATTAAGACTGTTAATAAGTGTGTAAACACATTTCCATTTGAATGTACATCATAGCATTGCTTATAATGGTGAAAACTAAAAAACCTAAGTGGCGAATAATGGGAGATCAGTTAATTTAAAGTAACTTTAGGCCAGGAGCAGTGGCTGACGCTTGTAATCCTAGCACTCTGGTAGGCAGAAGTGGGTAGATCACTTGAGGCCAGGAGTTCAACACCAGCCTGGCCAACATGGTAAAACCCCATCTGTACTAAAACTACCAAAAAAATTAGGCGGGCATGATGGTGCATGCCTGTAATCCCCACTACTCGGGGGGGCTGAGGCACAAGAATTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCGCTGCACTCCAACCTGGGTGACAGAGAGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAATTCAAACAATGGGATAATATACAGATATTAAAAGTGATGCAGATGTCTATTTATTGACATGGATGCATGTTCCTAGTAAATTATGCAGTAAATCAGATTTTAAGACAATATTTGGAATATAATCTGTTTGGGTGGCTGCAAACCAAACATTATCTGTGTTTATATCCAAGCGATGATTTTTTTTCCTTCTGACTTACCTGTGTTTTCTAATTTTTCTATAATGAGCACATATGACTTAATTTTTTTTAGTGCTTAAACACATTTTTTCTACTAGATCAAATAGGAAGTATCTGGTGGAAAATGAAGCTTTTGGTGAGTGGCTTCCTCCAGTTGGCAGCCACAGCGCCCTGTGGGGAGCCCCTCCCAGAGGGTGCAGGGAGTTTGGTTTAGTCCCCTACTCAACTGCCAGTTTGAAATGTTAGTTTGTGAGAGACTCAGGAGATACCAGGGACTCCCCTAGTCCCTCTGTGGCAGGCAGACCTGGGGCCCCGTTGTTTGGAGGTCAGGTACCTGGGGGGGCGGGAGGCCCCCGGCACCCTCGGGGCACTCTGGCAGCATGGTGAGCTTCTCCCTGGTGCTGTACCTGCAGGATGGTGAAGGGTTGACCTGTGTCCATTTCTGCTTCTGGAACAGCTGGGTGATGTTTGGGGACACAGAAGGAGTCTTCCAGGGTGTTGAGTTGCCACAGGGGTACTCCCTCATGGAAGACAAGAAAATATTCCATAATCAGCCTCAAAGTTGCTGACAAATCCCTAGGCATAAGAAATTGTGCCCAACCCTTTCCTCCTCCTCTTTAGACCCAGGCCCTTTCTTCTTATTCTCTTGGAGGCTGGTTTCTGCTCAAGCAATATCAAAACTAGGGTTTTGTGACTGACTAGGTGTGGGGCTGGGGAATAACCATCTCTAGCTTGTGGATCGTTTTGTCTCCCTTTTTATTCCTAGCAGCTCTAGCTGTTGAGAGACACAGCAACCAGAAGAGGAATTTGAAATTAGTCTGTTTTGGTCCTTATTGACAGCTTTGAAAAAGACTGAGGGAGAAAAGTTAAAATTATATTGAACTTTTAGGATTCCTGGTGGATGTCAATGGCCTTCGCTAACTCCCTTCTCCAGACTCACAACTATCACAAAGTACTGGCCACTGTGTCACTCACGCCATTCAAGGCCCAATCACACAATAGCATAACCCTATTTCCCTCCCTCCCTGCTCAGAGGCCTTTCAAATAAGTTATGGGGAATCATCTGTCAACTCAACATAGAACTTCTATGCTGAGAAATATAGAGCTGTCCAGTGGTGTGGGGGCTTCCTAGGAGGTAGTGAATGTCCCTGCACACAAGTGTGGAAGGAGAGGTTGGGGGAGTGCTGGTCAGAGACATGGAAGTGACCAGCAGAGCAGGATTGAGTGGGGCCTCCCCAACGCCTGCCATCTTGAACCCACCGTTGGGTCCTCCCAGGGGAGCTAGTCTTCTTAGGACAGGGGCGCGTAGGCACTTACGGAAGCCACCCTTCCTTCAGGCAGCGGTTGCCAAAGCCTGGCTTATTCAGGAGGACGTCTGCAAGTACCGTGAACTGCTCACTGCCTGGTTCATCCATGCTAGACAGAGTGAGACATGTGACTGGGACAGAGCAGGCGCGTGCCAACATCATGCAACTCAGAGCCTTTACTGGATAGCTGCTGTGTGCCAGGTATGTATTGGAGGCACCGAATGCTGCCTTGGGATGGCGCTAGCTCTCCTGGGAGTGCGGTAGGCTGCCTGAACACTCGCAGTGGTCTGATGGCATGTCACCTATGCCTCAAAAAGATGGCGCTTCAACCCATTCACCTAAGCTTTGCATTCCTTTCCCCATTCGGCCTTCCCAAGCAGTCCTGCCTGTCCACTAGGATCGCCTTTCCAAGCAGTGGCAGATACATTAAGTTCCTTTCTGCAGGCAGCCCAAAGACCCCTCCCCTCTCTCATTGGTGAAGGTCCCAGTGAAGTGGGAAGGTCAGGGCCCTTCTAAGCAGCATGTGACCCAGGTGCCCCAAACCCACAGAGGAGAATGGTGACCCCGAGTCCGCGCACCTGAAGAAGGTGTACTGCTGCCCATATATCCAGGGGTGAAGGGTCAAAGCGGGGTATTCGCCAAAAGGAGGGATAACAATAGAAAGCATCAGAGCCAAAAACACAAAGGTAGCCGGGAGCACGATCTGTGGGAGAATAGACGTGGAATAAACATGACTGTGGCATGGAGATGTCACACGTGCGCGTGCACACACATCTTCATTCTTTTAAACATTTATCCTGCAGCCTCCTAATCAGCCCCTGGTGGAGAGGGTTGGGCTTCTGGGGGAACATAATAAGCAGGGTGTGCAAAGGTAAGATGTGCAGAAGAAAACAGAATGTTCTGGTGGCCACTGAAGAATCTGAATGCAGCCCAGTGTTCAGCCAGACTTCAAAGGGCATTTCAAAGAGCAAGTCACGTGACTCACTGTTCTTTAAACCAGAGCTTCTTTTTCTAAATTAAACAACATTAAAAGAAAAAAGAGGGCAATGATTTTGATATGTAGGGTCACTGCAAAAATGAATGAAAACATGACTTTATCCCTCACTGTAAAAATAAAAACAATATTAACATTTTCACTATTATTC
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Task1_train_1175
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This is a variant in ABCA4 (ATP binding cassette subfamily A member 4), located on Chromosome 1. Is this mutation a likely cause of disease or not?
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Pathogenic; Severe early-childhood-onset retinal dystrophy
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AACAAGCAAAGCTTCCTCTTGGGGCACAGAGGACTGAGACAAGTTCCTTGGGTCCTTCTTTTGGGATCCCTATGATGCAGCAGATGAGCTGTGATTCAAAGAGAGAAAATATTGCTTGAGAAATATAAAGATACATGCTTTAGAATATAAAAAAGAGCAGGGATCGGGTGTTCTTGGCCTAGAACCATTTATAAACCAGACTGTGATAGGTGCTGTGGCAAAATCTAGTTGCTCCCATTATTTGCTCCTCCCTGCTGCCTTAGCCATAGCCTTTTTTGTTGGGTTTGTAAGTGGAAGTACTATGTGGGAACTTCAGAAAACCTTCCCTAAACATAGCACATGTGCACACTCTGCCCTCTGTTTTGCTTCATCCTTCTTCCATTCCGCTGCCTGGAAGGCAGCTCCTGCCTTATTGGCTGATGAGGCTGAGGCCTGTTTAGTGTGGAGGAGAAAGAGAATAGAACATCGTGCACCACCCACGTAGACTTTTAGATGAGTGAGAAACAAGTTGTGTCTTGTTTTATCTGCTGTTAGTTTGGGGTTGTCATCACTTGAGTTGAATCTAATTCTAAATAATTCCTTGCCCACATGATTTCATTAAATCCTCATAATAATATTATGAAATAAGCAGTTATTCCCAATTCACAGGTGATAAAATTAAGGCTCAGAGAGGTCAAGTAGTCCACCTGGGGCTCTCCGTGTCCCATACCTGTGCTTTCCCACTGAACTGCATAGCCTGTTTGGGAACAGTTTATTCATTGACAAATCATTGGACAGGGCTGTCTAAGGCCCAGCCCTGGCAAGTCAGCTGGGAGGCCCATTATCAACCACGGACACAGCCTTCTTTGATGTCTCTAAATCCCCCAGGAGATGCTCACTGTAATCTGTTCTGGACTTTAGAACTCCCAGGACAGGGTGCTGCTCAGAGCCAAGATCATTAATGTCCCTGCAAAAGATGGATGCTGGCTGTGCATGTATTTGTGTACATACCTGCAGATGTTAGAGACACAGCACATGGAGAGCTTCTTAATTAAGACTGTTAATAAGTGTGTAAACACATTTCCATTTGAATGTACATCATAGCATTGCTTATAATGGTGAAAACTAAAAAACCTAAGTGGCGAATAATGGGAGATCAGTTAATTTAAAGTAACTTTAGGCCAGGAGCAGTGGCTGACGCTTGTAATCCTAGCACTCTGGTAGGCAGAAGTGGGTAGATCACTTGAGGCCAGGAGTTCAACACCAGCCTGGCCAACATGGTAAAACCCCATCTGTACTAAAACTACCAAAAAAATTAGGCGGGCATGATGGTGCATGCCTGTAATCCCCACTACTCGGGGGGGCTGAGGCACAAGAATTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCGCTGCACTCCAACCTGGGTGACAGAGAGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAATTCAAACAATGGGATAATATACAGATATTAAAAGTGATGCAGATGTCTATTTATTGACATGGATGCATGTTCCTAGTAAATTATGCAGTAAATCAGATTTTAAGACAATATTTGGAATATAATCTGTTTGGGTGGCTGCAAACCAAACATTATCTGTGTTTATATCCAAGCGATGATTTTTTTTCCTTCTGACTTACCTGTGTTTTCTAATTTTTCTATAATGAGCACATATGACTTAATTTTTTTTAGTGCTTAAACACATTTTTTCTACTAGATCAAATAGGAAGTATCTGGTGGAAAATGAAGCTTTTGGTGAGTGGCTTCCTCCAGTTGGCAGCCACAGCGCCCTGTGGGGAGCCCCTCCCAGAGGGTGCAGGGAGTTTGGTTTAGTCCCCTACTCAACTGCCAGTTTGAAATGTTAGTTTGTGAGAGACTCAGGAGATACCAGGGACTCCCCTAGTCCCTCTGTGGCAGGCAGACCTGGGGCCCCGTTGTTTGGAGGTCAGGTACCTGGGGGGGCGGGAGGCCCCCGGCACCCTCGGGGCACTCTGGCAGCATGGTGAGCTTCTCCCTGGTGCTGCACCTGCAGGATGGTGAAGGGTTGACCTGTGTCCATTTCTGCTTCTGGAACAGCTGGGTGATGTTTGGGGACACAGAAGGAGTCTTCCAGGGTGTTGAGTTGCCACAGGGGTACTCCCTCATGGAAGACAAGAAAATATTCCATAATCAGCCTCAAAGTTGCTGACAAATCCCTAGGCATAAGAAATTGTGCCCAACCCTTTCCTCCTCCTCTTTAGACCCAGGCCCTTTCTTCTTATTCTCTTGGAGGCTGGTTTCTGCTCAAGCAATATCAAAACTAGGGTTTTGTGACTGACTAGGTGTGGGGCTGGGGAATAACCATCTCTAGCTTGTGGATCGTTTTGTCTCCCTTTTTATTCCTAGCAGCTCTAGCTGTTGAGAGACACAGCAACCAGAAGAGGAATTTGAAATTAGTCTGTTTTGGTCCTTATTGACAGCTTTGAAAAAGACTGAGGGAGAAAAGTTAAAATTATATTGAACTTTTAGGATTCCTGGTGGATGTCAATGGCCTTCGCTAACTCCCTTCTCCAGACTCACAACTATCACAAAGTACTGGCCACTGTGTCACTCACGCCATTCAAGGCCCAATCACACAATAGCATAACCCTATTTCCCTCCCTCCCTGCTCAGAGGCCTTTCAAATAAGTTATGGGGAATCATCTGTCAACTCAACATAGAACTTCTATGCTGAGAAATATAGAGCTGTCCAGTGGTGTGGGGGCTTCCTAGGAGGTAGTGAATGTCCCTGCACACAAGTGTGGAAGGAGAGGTTGGGGGAGTGCTGGTCAGAGACATGGAAGTGACCAGCAGAGCAGGATTGAGTGGGGCCTCCCCAACGCCTGCCATCTTGAACCCACCGTTGGGTCCTCCCAGGGGAGCTAGTCTTCTTAGGACAGGGGCGCGTAGGCACTTACGGAAGCCACCCTTCCTTCAGGCAGCGGTTGCCAAAGCCTGGCTTATTCAGGAGGACGTCTGCAAGTACCGTGAACTGCTCACTGCCTGGTTCATCCATGCTAGACAGAGTGAGACATGTGACTGGGACAGAGCAGGCGCGTGCCAACATCATGCAACTCAGAGCCTTTACTGGATAGCTGCTGTGTGCCAGGTATGTATTGGAGGCACCGAATGCTGCCTTGGGATGGCGCTAGCTCTCCTGGGAGTGCGGTAGGCTGCCTGAACACTCGCAGTGGTCTGATGGCATGTCACCTATGCCTCAAAAAGATGGCGCTTCAACCCATTCACCTAAGCTTTGCATTCCTTTCCCCATTCGGCCTTCCCAAGCAGTCCTGCCTGTCCACTAGGATCGCCTTTCCAAGCAGTGGCAGATACATTAAGTTCCTTTCTGCAGGCAGCCCAAAGACCCCTCCCCTCTCTCATTGGTGAAGGTCCCAGTGAAGTGGGAAGGTCAGGGCCCTTCTAAGCAGCATGTGACCCAGGTGCCCCAAACCCACAGAGGAGAATGGTGACCCCGAGTCCGCGCACCTGAAGAAGGTGTACTGCTGCCCATATATCCAGGGGTGAAGGGTCAAAGCGGGGTATTCGCCAAAAGGAGGGATAACAATAGAAAGCATCAGAGCCAAAAACACAAAGGTAGCCGGGAGCACGATCTGTGGGAGAATAGACGTGGAATAAACATGACTGTGGCATGGAGATGTCACACGTGCGCGTGCACACACATCTTCATTCTTTTAAACATTTATCCTGCAGCCTCCTAATCAGCCCCTGGTGGAGAGGGTTGGGCTTCTGGGGGAACATAATAAGCAGGGTGTGCAAAGGTAAGATGTGCAGAAGAAAACAGAATGTTCTGGTGGCCACTGAAGAATCTGAATGCAGCCCAGTGTTCAGCCAGACTTCAAAGGGCATTTCAAAGAGCAAGTCACGTGACTCACTGTTCTTTAAACCAGAGCTTCTTTTTCTAAATTAAACAACATTAAAAGAAAAAAGAGGGCAATGATTTTGATATGTAGGGTCACTGCAAAAATGAATGAAAACATGACTTTATCCCTCACTGTAAAAATAAAAACAATATTAACATTTTCACTATTATTC
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AACAAGCAAAGCTTCCTCTTGGGGCACAGAGGACTGAGACAAGTTCCTTGGGTCCTTCTTTTGGGATCCCTATGATGCAGCAGATGAGCTGTGATTCAAAGAGAGAAAATATTGCTTGAGAAATATAAAGATACATGCTTTAGAATATAAAAAAGAGCAGGGATCGGGTGTTCTTGGCCTAGAACCATTTATAAACCAGACTGTGATAGGTGCTGTGGCAAAATCTAGTTGCTCCCATTATTTGCTCCTCCCTGCTGCCTTAGCCATAGCCTTTTTTGTTGGGTTTGTAAGTGGAAGTACTATGTGGGAACTTCAGAAAACCTTCCCTAAACATAGCACATGTGCACACTCTGCCCTCTGTTTTGCTTCATCCTTCTTCCATTCCGCTGCCTGGAAGGCAGCTCCTGCCTTATTGGCTGATGAGGCTGAGGCCTGTTTAGTGTGGAGGAGAAAGAGAATAGAACATCGTGCACCACCCACGTAGACTTTTAGATGAGTGAGAAACAAGTTGTGTCTTGTTTTATCTGCTGTTAGTTTGGGGTTGTCATCACTTGAGTTGAATCTAATTCTAAATAATTCCTTGCCCACATGATTTCATTAAATCCTCATAATAATATTATGAAATAAGCAGTTATTCCCAATTCACAGGTGATAAAATTAAGGCTCAGAGAGGTCAAGTAGTCCACCTGGGGCTCTCCGTGTCCCATACCTGTGCTTTCCCACTGAACTGCATAGCCTGTTTGGGAACAGTTTATTCATTGACAAATCATTGGACAGGGCTGTCTAAGGCCCAGCCCTGGCAAGTCAGCTGGGAGGCCCATTATCAACCACGGACACAGCCTTCTTTGATGTCTCTAAATCCCCCAGGAGATGCTCACTGTAATCTGTTCTGGACTTTAGAACTCCCAGGACAGGGTGCTGCTCAGAGCCAAGATCATTAATGTCCCTGCAAAAGATGGATGCTGGCTGTGCATGTATTTGTGTACATACCTGCAGATGTTAGAGACACAGCACATGGAGAGCTTCTTAATTAAGACTGTTAATAAGTGTGTAAACACATTTCCATTTGAATGTACATCATAGCATTGCTTATAATGGTGAAAACTAAAAAACCTAAGTGGCGAATAATGGGAGATCAGTTAATTTAAAGTAACTTTAGGCCAGGAGCAGTGGCTGACGCTTGTAATCCTAGCACTCTGGTAGGCAGAAGTGGGTAGATCACTTGAGGCCAGGAGTTCAACACCAGCCTGGCCAACATGGTAAAACCCCATCTGTACTAAAACTACCAAAAAAATTAGGCGGGCATGATGGTGCATGCCTGTAATCCCCACTACTCGGGGGGGCTGAGGCACAAGAATTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCGCTGCACTCCAACCTGGGTGACAGAGAGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAATTCAAACAATGGGATAATATACAGATATTAAAAGTGATGCAGATGTCTATTTATTGACATGGATGCATGTTCCTAGTAAATTATGCAGTAAATCAGATTTTAAGACAATATTTGGAATATAATCTGTTTGGGTGGCTGCAAACCAAACATTATCTGTGTTTATATCCAAGCGATGATTTTTTTTCCTTCTGACTTACCTGTGTTTTCTAATTTTTCTATAATGAGCACATATGACTTAATTTTTTTTAGTGCTTAAACACATTTTTTCTACTAGATCAAATAGGAAGTATCTGGTGGAAAATGAAGCTTTTGGTGAGTGGCTTCCTCCAGTTGGCAGCCACAGCGCCCTGTGGGGAGCCCCTCCCAGAGGGTGCAGGGAGTTTGGTTTAGTCCCCTACTCAACTGCCAGTTTGAAATGTTAGTTTGTGAGAGACTCAGGAGATACCAGGGACTCCCCTAGTCCCTCTGTGGCAGGCAGACCTGGGGCCCCGTTGTTTGGAGGTCAGGTACCTGGGGGGGCGGGAGGCCCCCGGCACCCTCGGGGCACTCTGGCAGCATGGTGAGCTTCTCCCTGGTGCTGTACCTGCAGGATGGTGAAGGGTTGACCTGTGTCCATTTCTGCTTCTGGAACAGCTGGGTGATGTTTGGGGACACAGAAGGAGTCTTCCAGGGTGTTGAGTTGCCACAGGGGTACTCCCTCATGGAAGACAAGAAAATATTCCATAATCAGCCTCAAAGTTGCTGACAAATCCCTAGGCATAAGAAATTGTGCCCAACCCTTTCCTCCTCCTCTTTAGACCCAGGCCCTTTCTTCTTATTCTCTTGGAGGCTGGTTTCTGCTCAAGCAATATCAAAACTAGGGTTTTGTGACTGACTAGGTGTGGGGCTGGGGAATAACCATCTCTAGCTTGTGGATCGTTTTGTCTCCCTTTTTATTCCTAGCAGCTCTAGCTGTTGAGAGACACAGCAACCAGAAGAGGAATTTGAAATTAGTCTGTTTTGGTCCTTATTGACAGCTTTGAAAAAGACTGAGGGAGAAAAGTTAAAATTATATTGAACTTTTAGGATTCCTGGTGGATGTCAATGGCCTTCGCTAACTCCCTTCTCCAGACTCACAACTATCACAAAGTACTGGCCACTGTGTCACTCACGCCATTCAAGGCCCAATCACACAATAGCATAACCCTATTTCCCTCCCTCCCTGCTCAGAGGCCTTTCAAATAAGTTATGGGGAATCATCTGTCAACTCAACATAGAACTTCTATGCTGAGAAATATAGAGCTGTCCAGTGGTGTGGGGGCTTCCTAGGAGGTAGTGAATGTCCCTGCACACAAGTGTGGAAGGAGAGGTTGGGGGAGTGCTGGTCAGAGACATGGAAGTGACCAGCAGAGCAGGATTGAGTGGGGCCTCCCCAACGCCTGCCATCTTGAACCCACCGTTGGGTCCTCCCAGGGGAGCTAGTCTTCTTAGGACAGGGGCGCGTAGGCACTTACGGAAGCCACCCTTCCTTCAGGCAGCGGTTGCCAAAGCCTGGCTTATTCAGGAGGACGTCTGCAAGTACCGTGAACTGCTCACTGCCTGGTTCATCCATGCTAGACAGAGTGAGACATGTGACTGGGACAGAGCAGGCGCGTGCCAACATCATGCAACTCAGAGCCTTTACTGGATAGCTGCTGTGTGCCAGGTATGTATTGGAGGCACCGAATGCTGCCTTGGGATGGCGCTAGCTCTCCTGGGAGTGCGGTAGGCTGCCTGAACACTCGCAGTGGTCTGATGGCATGTCACCTATGCCTCAAAAAGATGGCGCTTCAACCCATTCACCTAAGCTTTGCATTCCTTTCCCCATTCGGCCTTCCCAAGCAGTCCTGCCTGTCCACTAGGATCGCCTTTCCAAGCAGTGGCAGATACATTAAGTTCCTTTCTGCAGGCAGCCCAAAGACCCCTCCCCTCTCTCATTGGTGAAGGTCCCAGTGAAGTGGGAAGGTCAGGGCCCTTCTAAGCAGCATGTGACCCAGGTGCCCCAAACCCACAGAGGAGAATGGTGACCCCGAGTCCGCGCACCTGAAGAAGGTGTACTGCTGCCCATATATCCAGGGGTGAAGGGTCAAAGCGGGGTATTCGCCAAAAGGAGGGATAACAATAGAAAGCATCAGAGCCAAAAACACAAAGGTAGCCGGGAGCACGATCTGTGGGAGAATAGACGTGGAATAAACATGACTGTGGCATGGAGATGTCACACGTGCGCGTGCACACACATCTTCATTCTTTTAAACATTTATCCTGCAGCCTCCTAATCAGCCCCTGGTGGAGAGGGTTGGGCTTCTGGGGGAACATAATAAGCAGGGTGTGCAAAGGTAAGATGTGCAGAAGAAAACAGAATGTTCTGGTGGCCACTGAAGAATCTGAATGCAGCCCAGTGTTCAGCCAGACTTCAAAGGGCATTTCAAAGAGCAAGTCACGTGACTCACTGTTCTTTAAACCAGAGCTTCTTTTTCTAAATTAAACAACATTAAAAGAAAAAAGAGGGCAATGATTTTGATATGTAGGGTCACTGCAAAAATGAATGAAAACATGACTTTATCCCTCACTGTAAAAATAAAAACAATATTAACATTTTCACTATTATTC
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Task1_train_1176
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The following genetic variant occurs in ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Retinitis pigmentosa 19
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AACAAGCAAAGCTTCCTCTTGGGGCACAGAGGACTGAGACAAGTTCCTTGGGTCCTTCTTTTGGGATCCCTATGATGCAGCAGATGAGCTGTGATTCAAAGAGAGAAAATATTGCTTGAGAAATATAAAGATACATGCTTTAGAATATAAAAAAGAGCAGGGATCGGGTGTTCTTGGCCTAGAACCATTTATAAACCAGACTGTGATAGGTGCTGTGGCAAAATCTAGTTGCTCCCATTATTTGCTCCTCCCTGCTGCCTTAGCCATAGCCTTTTTTGTTGGGTTTGTAAGTGGAAGTACTATGTGGGAACTTCAGAAAACCTTCCCTAAACATAGCACATGTGCACACTCTGCCCTCTGTTTTGCTTCATCCTTCTTCCATTCCGCTGCCTGGAAGGCAGCTCCTGCCTTATTGGCTGATGAGGCTGAGGCCTGTTTAGTGTGGAGGAGAAAGAGAATAGAACATCGTGCACCACCCACGTAGACTTTTAGATGAGTGAGAAACAAGTTGTGTCTTGTTTTATCTGCTGTTAGTTTGGGGTTGTCATCACTTGAGTTGAATCTAATTCTAAATAATTCCTTGCCCACATGATTTCATTAAATCCTCATAATAATATTATGAAATAAGCAGTTATTCCCAATTCACAGGTGATAAAATTAAGGCTCAGAGAGGTCAAGTAGTCCACCTGGGGCTCTCCGTGTCCCATACCTGTGCTTTCCCACTGAACTGCATAGCCTGTTTGGGAACAGTTTATTCATTGACAAATCATTGGACAGGGCTGTCTAAGGCCCAGCCCTGGCAAGTCAGCTGGGAGGCCCATTATCAACCACGGACACAGCCTTCTTTGATGTCTCTAAATCCCCCAGGAGATGCTCACTGTAATCTGTTCTGGACTTTAGAACTCCCAGGACAGGGTGCTGCTCAGAGCCAAGATCATTAATGTCCCTGCAAAAGATGGATGCTGGCTGTGCATGTATTTGTGTACATACCTGCAGATGTTAGAGACACAGCACATGGAGAGCTTCTTAATTAAGACTGTTAATAAGTGTGTAAACACATTTCCATTTGAATGTACATCATAGCATTGCTTATAATGGTGAAAACTAAAAAACCTAAGTGGCGAATAATGGGAGATCAGTTAATTTAAAGTAACTTTAGGCCAGGAGCAGTGGCTGACGCTTGTAATCCTAGCACTCTGGTAGGCAGAAGTGGGTAGATCACTTGAGGCCAGGAGTTCAACACCAGCCTGGCCAACATGGTAAAACCCCATCTGTACTAAAACTACCAAAAAAATTAGGCGGGCATGATGGTGCATGCCTGTAATCCCCACTACTCGGGGGGGCTGAGGCACAAGAATTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCGCTGCACTCCAACCTGGGTGACAGAGAGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAATTCAAACAATGGGATAATATACAGATATTAAAAGTGATGCAGATGTCTATTTATTGACATGGATGCATGTTCCTAGTAAATTATGCAGTAAATCAGATTTTAAGACAATATTTGGAATATAATCTGTTTGGGTGGCTGCAAACCAAACATTATCTGTGTTTATATCCAAGCGATGATTTTTTTTCCTTCTGACTTACCTGTGTTTTCTAATTTTTCTATAATGAGCACATATGACTTAATTTTTTTTAGTGCTTAAACACATTTTTTCTACTAGATCAAATAGGAAGTATCTGGTGGAAAATGAAGCTTTTGGTGAGTGGCTTCCTCCAGTTGGCAGCCACAGCGCCCTGTGGGGAGCCCCTCCCAGAGGGTGCAGGGAGTTTGGTTTAGTCCCCTACTCAACTGCCAGTTTGAAATGTTAGTTTGTGAGAGACTCAGGAGATACCAGGGACTCCCCTAGTCCCTCTGTGGCAGGCAGACCTGGGGCCCCGTTGTTTGGAGGTCAGGTACCTGGGGGGGCGGGAGGCCCCCGGCACCCTCGGGGCACTCTGGCAGCATGGTGAGCTTCTCCCTGGTGCTGCACCTGCAGGATGGTGAAGGGTTGACCTGTGTCCATTTCTGCTTCTGGAACAGCTGGGTGATGTTTGGGGACACAGAAGGAGTCTTCCAGGGTGTTGAGTTGCCACAGGGGTACTCCCTCATGGAAGACAAGAAAATATTCCATAATCAGCCTCAAAGTTGCTGACAAATCCCTAGGCATAAGAAATTGTGCCCAACCCTTTCCTCCTCCTCTTTAGACCCAGGCCCTTTCTTCTTATTCTCTTGGAGGCTGGTTTCTGCTCAAGCAATATCAAAACTAGGGTTTTGTGACTGACTAGGTGTGGGGCTGGGGAATAACCATCTCTAGCTTGTGGATCGTTTTGTCTCCCTTTTTATTCCTAGCAGCTCTAGCTGTTGAGAGACACAGCAACCAGAAGAGGAATTTGAAATTAGTCTGTTTTGGTCCTTATTGACAGCTTTGAAAAAGACTGAGGGAGAAAAGTTAAAATTATATTGAACTTTTAGGATTCCTGGTGGATGTCAATGGCCTTCGCTAACTCCCTTCTCCAGACTCACAACTATCACAAAGTACTGGCCACTGTGTCACTCACGCCATTCAAGGCCCAATCACACAATAGCATAACCCTATTTCCCTCCCTCCCTGCTCAGAGGCCTTTCAAATAAGTTATGGGGAATCATCTGTCAACTCAACATAGAACTTCTATGCTGAGAAATATAGAGCTGTCCAGTGGTGTGGGGGCTTCCTAGGAGGTAGTGAATGTCCCTGCACACAAGTGTGGAAGGAGAGGTTGGGGGAGTGCTGGTCAGAGACATGGAAGTGACCAGCAGAGCAGGATTGAGTGGGGCCTCCCCAACGCCTGCCATCTTGAACCCACCGTTGGGTCCTCCCAGGGGAGCTAGTCTTCTTAGGACAGGGGCGCGTAGGCACTTACGGAAGCCACCCTTCCTTCAGGCAGCGGTTGCCAAAGCCTGGCTTATTCAGGAGGACGTCTGCAAGTACCGTGAACTGCTCACTGCCTGGTTCATCCATGCTAGACAGAGTGAGACATGTGACTGGGACAGAGCAGGCGCGTGCCAACATCATGCAACTCAGAGCCTTTACTGGATAGCTGCTGTGTGCCAGGTATGTATTGGAGGCACCGAATGCTGCCTTGGGATGGCGCTAGCTCTCCTGGGAGTGCGGTAGGCTGCCTGAACACTCGCAGTGGTCTGATGGCATGTCACCTATGCCTCAAAAAGATGGCGCTTCAACCCATTCACCTAAGCTTTGCATTCCTTTCCCCATTCGGCCTTCCCAAGCAGTCCTGCCTGTCCACTAGGATCGCCTTTCCAAGCAGTGGCAGATACATTAAGTTCCTTTCTGCAGGCAGCCCAAAGACCCCTCCCCTCTCTCATTGGTGAAGGTCCCAGTGAAGTGGGAAGGTCAGGGCCCTTCTAAGCAGCATGTGACCCAGGTGCCCCAAACCCACAGAGGAGAATGGTGACCCCGAGTCCGCGCACCTGAAGAAGGTGTACTGCTGCCCATATATCCAGGGGTGAAGGGTCAAAGCGGGGTATTCGCCAAAAGGAGGGATAACAATAGAAAGCATCAGAGCCAAAAACACAAAGGTAGCCGGGAGCACGATCTGTGGGAGAATAGACGTGGAATAAACATGACTGTGGCATGGAGATGTCACACGTGCGCGTGCACACACATCTTCATTCTTTTAAACATTTATCCTGCAGCCTCCTAATCAGCCCCTGGTGGAGAGGGTTGGGCTTCTGGGGGAACATAATAAGCAGGGTGTGCAAAGGTAAGATGTGCAGAAGAAAACAGAATGTTCTGGTGGCCACTGAAGAATCTGAATGCAGCCCAGTGTTCAGCCAGACTTCAAAGGGCATTTCAAAGAGCAAGTCACGTGACTCACTGTTCTTTAAACCAGAGCTTCTTTTTCTAAATTAAACAACATTAAAAGAAAAAAGAGGGCAATGATTTTGATATGTAGGGTCACTGCAAAAATGAATGAAAACATGACTTTATCCCTCACTGTAAAAATAAAAACAATATTAACATTTTCACTATTATTC
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AACAAGCAAAGCTTCCTCTTGGGGCACAGAGGACTGAGACAAGTTCCTTGGGTCCTTCTTTTGGGATCCCTATGATGCAGCAGATGAGCTGTGATTCAAAGAGAGAAAATATTGCTTGAGAAATATAAAGATACATGCTTTAGAATATAAAAAAGAGCAGGGATCGGGTGTTCTTGGCCTAGAACCATTTATAAACCAGACTGTGATAGGTGCTGTGGCAAAATCTAGTTGCTCCCATTATTTGCTCCTCCCTGCTGCCTTAGCCATAGCCTTTTTTGTTGGGTTTGTAAGTGGAAGTACTATGTGGGAACTTCAGAAAACCTTCCCTAAACATAGCACATGTGCACACTCTGCCCTCTGTTTTGCTTCATCCTTCTTCCATTCCGCTGCCTGGAAGGCAGCTCCTGCCTTATTGGCTGATGAGGCTGAGGCCTGTTTAGTGTGGAGGAGAAAGAGAATAGAACATCGTGCACCACCCACGTAGACTTTTAGATGAGTGAGAAACAAGTTGTGTCTTGTTTTATCTGCTGTTAGTTTGGGGTTGTCATCACTTGAGTTGAATCTAATTCTAAATAATTCCTTGCCCACATGATTTCATTAAATCCTCATAATAATATTATGAAATAAGCAGTTATTCCCAATTCACAGGTGATAAAATTAAGGCTCAGAGAGGTCAAGTAGTCCACCTGGGGCTCTCCGTGTCCCATACCTGTGCTTTCCCACTGAACTGCATAGCCTGTTTGGGAACAGTTTATTCATTGACAAATCATTGGACAGGGCTGTCTAAGGCCCAGCCCTGGCAAGTCAGCTGGGAGGCCCATTATCAACCACGGACACAGCCTTCTTTGATGTCTCTAAATCCCCCAGGAGATGCTCACTGTAATCTGTTCTGGACTTTAGAACTCCCAGGACAGGGTGCTGCTCAGAGCCAAGATCATTAATGTCCCTGCAAAAGATGGATGCTGGCTGTGCATGTATTTGTGTACATACCTGCAGATGTTAGAGACACAGCACATGGAGAGCTTCTTAATTAAGACTGTTAATAAGTGTGTAAACACATTTCCATTTGAATGTACATCATAGCATTGCTTATAATGGTGAAAACTAAAAAACCTAAGTGGCGAATAATGGGAGATCAGTTAATTTAAAGTAACTTTAGGCCAGGAGCAGTGGCTGACGCTTGTAATCCTAGCACTCTGGTAGGCAGAAGTGGGTAGATCACTTGAGGCCAGGAGTTCAACACCAGCCTGGCCAACATGGTAAAACCCCATCTGTACTAAAACTACCAAAAAAATTAGGCGGGCATGATGGTGCATGCCTGTAATCCCCACTACTCGGGGGGGCTGAGGCACAAGAATTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCGCTGCACTCCAACCTGGGTGACAGAGAGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAATTCAAACAATGGGATAATATACAGATATTAAAAGTGATGCAGATGTCTATTTATTGACATGGATGCATGTTCCTAGTAAATTATGCAGTAAATCAGATTTTAAGACAATATTTGGAATATAATCTGTTTGGGTGGCTGCAAACCAAACATTATCTGTGTTTATATCCAAGCGATGATTTTTTTTCCTTCTGACTTACCTGTGTTTTCTAATTTTTCTATAATGAGCACATATGACTTAATTTTTTTTAGTGCTTAAACACATTTTTTCTACTAGATCAAATAGGAAGTATCTGGTGGAAAATGAAGCTTTTGGTGAGTGGCTTCCTCCAGTTGGCAGCCACAGCGCCCTGTGGGGAGCCCCTCCCAGAGGGTGCAGGGAGTTTGGTTTAGTCCCCTACTCAACTGCCAGTTTGAAATGTTAGTTTGTGAGAGACTCAGGAGATACCAGGGACTCCCCTAGTCCCTCTGTGGCAGGCAGACCTGGGGCCCCGTTGTTTGGAGGTCAGGTACCTGGGGGGGCGGGAGGCCCCCGGCACCCTCGGGGCACTCTGGCAGCATGGTGAGCTTCTCCCTGGTGCTGTACCTGCAGGATGGTGAAGGGTTGACCTGTGTCCATTTCTGCTTCTGGAACAGCTGGGTGATGTTTGGGGACACAGAAGGAGTCTTCCAGGGTGTTGAGTTGCCACAGGGGTACTCCCTCATGGAAGACAAGAAAATATTCCATAATCAGCCTCAAAGTTGCTGACAAATCCCTAGGCATAAGAAATTGTGCCCAACCCTTTCCTCCTCCTCTTTAGACCCAGGCCCTTTCTTCTTATTCTCTTGGAGGCTGGTTTCTGCTCAAGCAATATCAAAACTAGGGTTTTGTGACTGACTAGGTGTGGGGCTGGGGAATAACCATCTCTAGCTTGTGGATCGTTTTGTCTCCCTTTTTATTCCTAGCAGCTCTAGCTGTTGAGAGACACAGCAACCAGAAGAGGAATTTGAAATTAGTCTGTTTTGGTCCTTATTGACAGCTTTGAAAAAGACTGAGGGAGAAAAGTTAAAATTATATTGAACTTTTAGGATTCCTGGTGGATGTCAATGGCCTTCGCTAACTCCCTTCTCCAGACTCACAACTATCACAAAGTACTGGCCACTGTGTCACTCACGCCATTCAAGGCCCAATCACACAATAGCATAACCCTATTTCCCTCCCTCCCTGCTCAGAGGCCTTTCAAATAAGTTATGGGGAATCATCTGTCAACTCAACATAGAACTTCTATGCTGAGAAATATAGAGCTGTCCAGTGGTGTGGGGGCTTCCTAGGAGGTAGTGAATGTCCCTGCACACAAGTGTGGAAGGAGAGGTTGGGGGAGTGCTGGTCAGAGACATGGAAGTGACCAGCAGAGCAGGATTGAGTGGGGCCTCCCCAACGCCTGCCATCTTGAACCCACCGTTGGGTCCTCCCAGGGGAGCTAGTCTTCTTAGGACAGGGGCGCGTAGGCACTTACGGAAGCCACCCTTCCTTCAGGCAGCGGTTGCCAAAGCCTGGCTTATTCAGGAGGACGTCTGCAAGTACCGTGAACTGCTCACTGCCTGGTTCATCCATGCTAGACAGAGTGAGACATGTGACTGGGACAGAGCAGGCGCGTGCCAACATCATGCAACTCAGAGCCTTTACTGGATAGCTGCTGTGTGCCAGGTATGTATTGGAGGCACCGAATGCTGCCTTGGGATGGCGCTAGCTCTCCTGGGAGTGCGGTAGGCTGCCTGAACACTCGCAGTGGTCTGATGGCATGTCACCTATGCCTCAAAAAGATGGCGCTTCAACCCATTCACCTAAGCTTTGCATTCCTTTCCCCATTCGGCCTTCCCAAGCAGTCCTGCCTGTCCACTAGGATCGCCTTTCCAAGCAGTGGCAGATACATTAAGTTCCTTTCTGCAGGCAGCCCAAAGACCCCTCCCCTCTCTCATTGGTGAAGGTCCCAGTGAAGTGGGAAGGTCAGGGCCCTTCTAAGCAGCATGTGACCCAGGTGCCCCAAACCCACAGAGGAGAATGGTGACCCCGAGTCCGCGCACCTGAAGAAGGTGTACTGCTGCCCATATATCCAGGGGTGAAGGGTCAAAGCGGGGTATTCGCCAAAAGGAGGGATAACAATAGAAAGCATCAGAGCCAAAAACACAAAGGTAGCCGGGAGCACGATCTGTGGGAGAATAGACGTGGAATAAACATGACTGTGGCATGGAGATGTCACACGTGCGCGTGCACACACATCTTCATTCTTTTAAACATTTATCCTGCAGCCTCCTAATCAGCCCCTGGTGGAGAGGGTTGGGCTTCTGGGGGAACATAATAAGCAGGGTGTGCAAAGGTAAGATGTGCAGAAGAAAACAGAATGTTCTGGTGGCCACTGAAGAATCTGAATGCAGCCCAGTGTTCAGCCAGACTTCAAAGGGCATTTCAAAGAGCAAGTCACGTGACTCACTGTTCTTTAAACCAGAGCTTCTTTTTCTAAATTAAACAACATTAAAAGAAAAAAGAGGGCAATGATTTTGATATGTAGGGTCACTGCAAAAATGAATGAAAACATGACTTTATCCCTCACTGTAAAAATAAAAACAATATTAACATTTTCACTATTATTC
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Task1_train_1177
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This alteration occurs within gene ABCA4 (ATP binding cassette subfamily A member 4) located on Chromosome 1. Is it associated with a disease or is it a benign variant?
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Pathogenic; See cases
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AACAAGCAAAGCTTCCTCTTGGGGCACAGAGGACTGAGACAAGTTCCTTGGGTCCTTCTTTTGGGATCCCTATGATGCAGCAGATGAGCTGTGATTCAAAGAGAGAAAATATTGCTTGAGAAATATAAAGATACATGCTTTAGAATATAAAAAAGAGCAGGGATCGGGTGTTCTTGGCCTAGAACCATTTATAAACCAGACTGTGATAGGTGCTGTGGCAAAATCTAGTTGCTCCCATTATTTGCTCCTCCCTGCTGCCTTAGCCATAGCCTTTTTTGTTGGGTTTGTAAGTGGAAGTACTATGTGGGAACTTCAGAAAACCTTCCCTAAACATAGCACATGTGCACACTCTGCCCTCTGTTTTGCTTCATCCTTCTTCCATTCCGCTGCCTGGAAGGCAGCTCCTGCCTTATTGGCTGATGAGGCTGAGGCCTGTTTAGTGTGGAGGAGAAAGAGAATAGAACATCGTGCACCACCCACGTAGACTTTTAGATGAGTGAGAAACAAGTTGTGTCTTGTTTTATCTGCTGTTAGTTTGGGGTTGTCATCACTTGAGTTGAATCTAATTCTAAATAATTCCTTGCCCACATGATTTCATTAAATCCTCATAATAATATTATGAAATAAGCAGTTATTCCCAATTCACAGGTGATAAAATTAAGGCTCAGAGAGGTCAAGTAGTCCACCTGGGGCTCTCCGTGTCCCATACCTGTGCTTTCCCACTGAACTGCATAGCCTGTTTGGGAACAGTTTATTCATTGACAAATCATTGGACAGGGCTGTCTAAGGCCCAGCCCTGGCAAGTCAGCTGGGAGGCCCATTATCAACCACGGACACAGCCTTCTTTGATGTCTCTAAATCCCCCAGGAGATGCTCACTGTAATCTGTTCTGGACTTTAGAACTCCCAGGACAGGGTGCTGCTCAGAGCCAAGATCATTAATGTCCCTGCAAAAGATGGATGCTGGCTGTGCATGTATTTGTGTACATACCTGCAGATGTTAGAGACACAGCACATGGAGAGCTTCTTAATTAAGACTGTTAATAAGTGTGTAAACACATTTCCATTTGAATGTACATCATAGCATTGCTTATAATGGTGAAAACTAAAAAACCTAAGTGGCGAATAATGGGAGATCAGTTAATTTAAAGTAACTTTAGGCCAGGAGCAGTGGCTGACGCTTGTAATCCTAGCACTCTGGTAGGCAGAAGTGGGTAGATCACTTGAGGCCAGGAGTTCAACACCAGCCTGGCCAACATGGTAAAACCCCATCTGTACTAAAACTACCAAAAAAATTAGGCGGGCATGATGGTGCATGCCTGTAATCCCCACTACTCGGGGGGGCTGAGGCACAAGAATTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCGCTGCACTCCAACCTGGGTGACAGAGAGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAATTCAAACAATGGGATAATATACAGATATTAAAAGTGATGCAGATGTCTATTTATTGACATGGATGCATGTTCCTAGTAAATTATGCAGTAAATCAGATTTTAAGACAATATTTGGAATATAATCTGTTTGGGTGGCTGCAAACCAAACATTATCTGTGTTTATATCCAAGCGATGATTTTTTTTCCTTCTGACTTACCTGTGTTTTCTAATTTTTCTATAATGAGCACATATGACTTAATTTTTTTTAGTGCTTAAACACATTTTTTCTACTAGATCAAATAGGAAGTATCTGGTGGAAAATGAAGCTTTTGGTGAGTGGCTTCCTCCAGTTGGCAGCCACAGCGCCCTGTGGGGAGCCCCTCCCAGAGGGTGCAGGGAGTTTGGTTTAGTCCCCTACTCAACTGCCAGTTTGAAATGTTAGTTTGTGAGAGACTCAGGAGATACCAGGGACTCCCCTAGTCCCTCTGTGGCAGGCAGACCTGGGGCCCCGTTGTTTGGAGGTCAGGTACCTGGGGGGGCGGGAGGCCCCCGGCACCCTCGGGGCACTCTGGCAGCATGGTGAGCTTCTCCCTGGTGCTGCACCTGCAGGATGGTGAAGGGTTGACCTGTGTCCATTTCTGCTTCTGGAACAGCTGGGTGATGTTTGGGGACACAGAAGGAGTCTTCCAGGGTGTTGAGTTGCCACAGGGGTACTCCCTCATGGAAGACAAGAAAATATTCCATAATCAGCCTCAAAGTTGCTGACAAATCCCTAGGCATAAGAAATTGTGCCCAACCCTTTCCTCCTCCTCTTTAGACCCAGGCCCTTTCTTCTTATTCTCTTGGAGGCTGGTTTCTGCTCAAGCAATATCAAAACTAGGGTTTTGTGACTGACTAGGTGTGGGGCTGGGGAATAACCATCTCTAGCTTGTGGATCGTTTTGTCTCCCTTTTTATTCCTAGCAGCTCTAGCTGTTGAGAGACACAGCAACCAGAAGAGGAATTTGAAATTAGTCTGTTTTGGTCCTTATTGACAGCTTTGAAAAAGACTGAGGGAGAAAAGTTAAAATTATATTGAACTTTTAGGATTCCTGGTGGATGTCAATGGCCTTCGCTAACTCCCTTCTCCAGACTCACAACTATCACAAAGTACTGGCCACTGTGTCACTCACGCCATTCAAGGCCCAATCACACAATAGCATAACCCTATTTCCCTCCCTCCCTGCTCAGAGGCCTTTCAAATAAGTTATGGGGAATCATCTGTCAACTCAACATAGAACTTCTATGCTGAGAAATATAGAGCTGTCCAGTGGTGTGGGGGCTTCCTAGGAGGTAGTGAATGTCCCTGCACACAAGTGTGGAAGGAGAGGTTGGGGGAGTGCTGGTCAGAGACATGGAAGTGACCAGCAGAGCAGGATTGAGTGGGGCCTCCCCAACGCCTGCCATCTTGAACCCACCGTTGGGTCCTCCCAGGGGAGCTAGTCTTCTTAGGACAGGGGCGCGTAGGCACTTACGGAAGCCACCCTTCCTTCAGGCAGCGGTTGCCAAAGCCTGGCTTATTCAGGAGGACGTCTGCAAGTACCGTGAACTGCTCACTGCCTGGTTCATCCATGCTAGACAGAGTGAGACATGTGACTGGGACAGAGCAGGCGCGTGCCAACATCATGCAACTCAGAGCCTTTACTGGATAGCTGCTGTGTGCCAGGTATGTATTGGAGGCACCGAATGCTGCCTTGGGATGGCGCTAGCTCTCCTGGGAGTGCGGTAGGCTGCCTGAACACTCGCAGTGGTCTGATGGCATGTCACCTATGCCTCAAAAAGATGGCGCTTCAACCCATTCACCTAAGCTTTGCATTCCTTTCCCCATTCGGCCTTCCCAAGCAGTCCTGCCTGTCCACTAGGATCGCCTTTCCAAGCAGTGGCAGATACATTAAGTTCCTTTCTGCAGGCAGCCCAAAGACCCCTCCCCTCTCTCATTGGTGAAGGTCCCAGTGAAGTGGGAAGGTCAGGGCCCTTCTAAGCAGCATGTGACCCAGGTGCCCCAAACCCACAGAGGAGAATGGTGACCCCGAGTCCGCGCACCTGAAGAAGGTGTACTGCTGCCCATATATCCAGGGGTGAAGGGTCAAAGCGGGGTATTCGCCAAAAGGAGGGATAACAATAGAAAGCATCAGAGCCAAAAACACAAAGGTAGCCGGGAGCACGATCTGTGGGAGAATAGACGTGGAATAAACATGACTGTGGCATGGAGATGTCACACGTGCGCGTGCACACACATCTTCATTCTTTTAAACATTTATCCTGCAGCCTCCTAATCAGCCCCTGGTGGAGAGGGTTGGGCTTCTGGGGGAACATAATAAGCAGGGTGTGCAAAGGTAAGATGTGCAGAAGAAAACAGAATGTTCTGGTGGCCACTGAAGAATCTGAATGCAGCCCAGTGTTCAGCCAGACTTCAAAGGGCATTTCAAAGAGCAAGTCACGTGACTCACTGTTCTTTAAACCAGAGCTTCTTTTTCTAAATTAAACAACATTAAAAGAAAAAAGAGGGCAATGATTTTGATATGTAGGGTCACTGCAAAAATGAATGAAAACATGACTTTATCCCTCACTGTAAAAATAAAAACAATATTAACATTTTCACTATTATTC
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AACAAGCAAAGCTTCCTCTTGGGGCACAGAGGACTGAGACAAGTTCCTTGGGTCCTTCTTTTGGGATCCCTATGATGCAGCAGATGAGCTGTGATTCAAAGAGAGAAAATATTGCTTGAGAAATATAAAGATACATGCTTTAGAATATAAAAAAGAGCAGGGATCGGGTGTTCTTGGCCTAGAACCATTTATAAACCAGACTGTGATAGGTGCTGTGGCAAAATCTAGTTGCTCCCATTATTTGCTCCTCCCTGCTGCCTTAGCCATAGCCTTTTTTGTTGGGTTTGTAAGTGGAAGTACTATGTGGGAACTTCAGAAAACCTTCCCTAAACATAGCACATGTGCACACTCTGCCCTCTGTTTTGCTTCATCCTTCTTCCATTCCGCTGCCTGGAAGGCAGCTCCTGCCTTATTGGCTGATGAGGCTGAGGCCTGTTTAGTGTGGAGGAGAAAGAGAATAGAACATCGTGCACCACCCACGTAGACTTTTAGATGAGTGAGAAACAAGTTGTGTCTTGTTTTATCTGCTGTTAGTTTGGGGTTGTCATCACTTGAGTTGAATCTAATTCTAAATAATTCCTTGCCCACATGATTTCATTAAATCCTCATAATAATATTATGAAATAAGCAGTTATTCCCAATTCACAGGTGATAAAATTAAGGCTCAGAGAGGTCAAGTAGTCCACCTGGGGCTCTCCGTGTCCCATACCTGTGCTTTCCCACTGAACTGCATAGCCTGTTTGGGAACAGTTTATTCATTGACAAATCATTGGACAGGGCTGTCTAAGGCCCAGCCCTGGCAAGTCAGCTGGGAGGCCCATTATCAACCACGGACACAGCCTTCTTTGATGTCTCTAAATCCCCCAGGAGATGCTCACTGTAATCTGTTCTGGACTTTAGAACTCCCAGGACAGGGTGCTGCTCAGAGCCAAGATCATTAATGTCCCTGCAAAAGATGGATGCTGGCTGTGCATGTATTTGTGTACATACCTGCAGATGTTAGAGACACAGCACATGGAGAGCTTCTTAATTAAGACTGTTAATAAGTGTGTAAACACATTTCCATTTGAATGTACATCATAGCATTGCTTATAATGGTGAAAACTAAAAAACCTAAGTGGCGAATAATGGGAGATCAGTTAATTTAAAGTAACTTTAGGCCAGGAGCAGTGGCTGACGCTTGTAATCCTAGCACTCTGGTAGGCAGAAGTGGGTAGATCACTTGAGGCCAGGAGTTCAACACCAGCCTGGCCAACATGGTAAAACCCCATCTGTACTAAAACTACCAAAAAAATTAGGCGGGCATGATGGTGCATGCCTGTAATCCCCACTACTCGGGGGGGCTGAGGCACAAGAATTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCGCTGCACTCCAACCTGGGTGACAGAGAGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAATTCAAACAATGGGATAATATACAGATATTAAAAGTGATGCAGATGTCTATTTATTGACATGGATGCATGTTCCTAGTAAATTATGCAGTAAATCAGATTTTAAGACAATATTTGGAATATAATCTGTTTGGGTGGCTGCAAACCAAACATTATCTGTGTTTATATCCAAGCGATGATTTTTTTTCCTTCTGACTTACCTGTGTTTTCTAATTTTTCTATAATGAGCACATATGACTTAATTTTTTTTAGTGCTTAAACACATTTTTTCTACTAGATCAAATAGGAAGTATCTGGTGGAAAATGAAGCTTTTGGTGAGTGGCTTCCTCCAGTTGGCAGCCACAGCGCCCTGTGGGGAGCCCCTCCCAGAGGGTGCAGGGAGTTTGGTTTAGTCCCCTACTCAACTGCCAGTTTGAAATGTTAGTTTGTGAGAGACTCAGGAGATACCAGGGACTCCCCTAGTCCCTCTGTGGCAGGCAGACCTGGGGCCCCGTTGTTTGGAGGTCAGGTACCTGGGGGGGCGGGAGGCCCCCGGCACCCTCGGGGCACTCTGGCAGCATGGTGAGCTTCTCCCTGGTGCTGTACCTGCAGGATGGTGAAGGGTTGACCTGTGTCCATTTCTGCTTCTGGAACAGCTGGGTGATGTTTGGGGACACAGAAGGAGTCTTCCAGGGTGTTGAGTTGCCACAGGGGTACTCCCTCATGGAAGACAAGAAAATATTCCATAATCAGCCTCAAAGTTGCTGACAAATCCCTAGGCATAAGAAATTGTGCCCAACCCTTTCCTCCTCCTCTTTAGACCCAGGCCCTTTCTTCTTATTCTCTTGGAGGCTGGTTTCTGCTCAAGCAATATCAAAACTAGGGTTTTGTGACTGACTAGGTGTGGGGCTGGGGAATAACCATCTCTAGCTTGTGGATCGTTTTGTCTCCCTTTTTATTCCTAGCAGCTCTAGCTGTTGAGAGACACAGCAACCAGAAGAGGAATTTGAAATTAGTCTGTTTTGGTCCTTATTGACAGCTTTGAAAAAGACTGAGGGAGAAAAGTTAAAATTATATTGAACTTTTAGGATTCCTGGTGGATGTCAATGGCCTTCGCTAACTCCCTTCTCCAGACTCACAACTATCACAAAGTACTGGCCACTGTGTCACTCACGCCATTCAAGGCCCAATCACACAATAGCATAACCCTATTTCCCTCCCTCCCTGCTCAGAGGCCTTTCAAATAAGTTATGGGGAATCATCTGTCAACTCAACATAGAACTTCTATGCTGAGAAATATAGAGCTGTCCAGTGGTGTGGGGGCTTCCTAGGAGGTAGTGAATGTCCCTGCACACAAGTGTGGAAGGAGAGGTTGGGGGAGTGCTGGTCAGAGACATGGAAGTGACCAGCAGAGCAGGATTGAGTGGGGCCTCCCCAACGCCTGCCATCTTGAACCCACCGTTGGGTCCTCCCAGGGGAGCTAGTCTTCTTAGGACAGGGGCGCGTAGGCACTTACGGAAGCCACCCTTCCTTCAGGCAGCGGTTGCCAAAGCCTGGCTTATTCAGGAGGACGTCTGCAAGTACCGTGAACTGCTCACTGCCTGGTTCATCCATGCTAGACAGAGTGAGACATGTGACTGGGACAGAGCAGGCGCGTGCCAACATCATGCAACTCAGAGCCTTTACTGGATAGCTGCTGTGTGCCAGGTATGTATTGGAGGCACCGAATGCTGCCTTGGGATGGCGCTAGCTCTCCTGGGAGTGCGGTAGGCTGCCTGAACACTCGCAGTGGTCTGATGGCATGTCACCTATGCCTCAAAAAGATGGCGCTTCAACCCATTCACCTAAGCTTTGCATTCCTTTCCCCATTCGGCCTTCCCAAGCAGTCCTGCCTGTCCACTAGGATCGCCTTTCCAAGCAGTGGCAGATACATTAAGTTCCTTTCTGCAGGCAGCCCAAAGACCCCTCCCCTCTCTCATTGGTGAAGGTCCCAGTGAAGTGGGAAGGTCAGGGCCCTTCTAAGCAGCATGTGACCCAGGTGCCCCAAACCCACAGAGGAGAATGGTGACCCCGAGTCCGCGCACCTGAAGAAGGTGTACTGCTGCCCATATATCCAGGGGTGAAGGGTCAAAGCGGGGTATTCGCCAAAAGGAGGGATAACAATAGAAAGCATCAGAGCCAAAAACACAAAGGTAGCCGGGAGCACGATCTGTGGGAGAATAGACGTGGAATAAACATGACTGTGGCATGGAGATGTCACACGTGCGCGTGCACACACATCTTCATTCTTTTAAACATTTATCCTGCAGCCTCCTAATCAGCCCCTGGTGGAGAGGGTTGGGCTTCTGGGGGAACATAATAAGCAGGGTGTGCAAAGGTAAGATGTGCAGAAGAAAACAGAATGTTCTGGTGGCCACTGAAGAATCTGAATGCAGCCCAGTGTTCAGCCAGACTTCAAAGGGCATTTCAAAGAGCAAGTCACGTGACTCACTGTTCTTTAAACCAGAGCTTCTTTTTCTAAATTAAACAACATTAAAAGAAAAAAGAGGGCAATGATTTTGATATGTAGGGTCACTGCAAAAATGAATGAAAACATGACTTTATCCCTCACTGTAAAAATAAAAACAATATTAACATTTTCACTATTATTC
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Task1_train_1178
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This mutation is located in gene ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; not provided
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CTGTGATTCAAAGAGAGAAAATATTGCTTGAGAAATATAAAGATACATGCTTTAGAATATAAAAAAGAGCAGGGATCGGGTGTTCTTGGCCTAGAACCATTTATAAACCAGACTGTGATAGGTGCTGTGGCAAAATCTAGTTGCTCCCATTATTTGCTCCTCCCTGCTGCCTTAGCCATAGCCTTTTTTGTTGGGTTTGTAAGTGGAAGTACTATGTGGGAACTTCAGAAAACCTTCCCTAAACATAGCACATGTGCACACTCTGCCCTCTGTTTTGCTTCATCCTTCTTCCATTCCGCTGCCTGGAAGGCAGCTCCTGCCTTATTGGCTGATGAGGCTGAGGCCTGTTTAGTGTGGAGGAGAAAGAGAATAGAACATCGTGCACCACCCACGTAGACTTTTAGATGAGTGAGAAACAAGTTGTGTCTTGTTTTATCTGCTGTTAGTTTGGGGTTGTCATCACTTGAGTTGAATCTAATTCTAAATAATTCCTTGCCCACATGATTTCATTAAATCCTCATAATAATATTATGAAATAAGCAGTTATTCCCAATTCACAGGTGATAAAATTAAGGCTCAGAGAGGTCAAGTAGTCCACCTGGGGCTCTCCGTGTCCCATACCTGTGCTTTCCCACTGAACTGCATAGCCTGTTTGGGAACAGTTTATTCATTGACAAATCATTGGACAGGGCTGTCTAAGGCCCAGCCCTGGCAAGTCAGCTGGGAGGCCCATTATCAACCACGGACACAGCCTTCTTTGATGTCTCTAAATCCCCCAGGAGATGCTCACTGTAATCTGTTCTGGACTTTAGAACTCCCAGGACAGGGTGCTGCTCAGAGCCAAGATCATTAATGTCCCTGCAAAAGATGGATGCTGGCTGTGCATGTATTTGTGTACATACCTGCAGATGTTAGAGACACAGCACATGGAGAGCTTCTTAATTAAGACTGTTAATAAGTGTGTAAACACATTTCCATTTGAATGTACATCATAGCATTGCTTATAATGGTGAAAACTAAAAAACCTAAGTGGCGAATAATGGGAGATCAGTTAATTTAAAGTAACTTTAGGCCAGGAGCAGTGGCTGACGCTTGTAATCCTAGCACTCTGGTAGGCAGAAGTGGGTAGATCACTTGAGGCCAGGAGTTCAACACCAGCCTGGCCAACATGGTAAAACCCCATCTGTACTAAAACTACCAAAAAAATTAGGCGGGCATGATGGTGCATGCCTGTAATCCCCACTACTCGGGGGGGCTGAGGCACAAGAATTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCGCTGCACTCCAACCTGGGTGACAGAGAGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAATTCAAACAATGGGATAATATACAGATATTAAAAGTGATGCAGATGTCTATTTATTGACATGGATGCATGTTCCTAGTAAATTATGCAGTAAATCAGATTTTAAGACAATATTTGGAATATAATCTGTTTGGGTGGCTGCAAACCAAACATTATCTGTGTTTATATCCAAGCGATGATTTTTTTTCCTTCTGACTTACCTGTGTTTTCTAATTTTTCTATAATGAGCACATATGACTTAATTTTTTTTAGTGCTTAAACACATTTTTTCTACTAGATCAAATAGGAAGTATCTGGTGGAAAATGAAGCTTTTGGTGAGTGGCTTCCTCCAGTTGGCAGCCACAGCGCCCTGTGGGGAGCCCCTCCCAGAGGGTGCAGGGAGTTTGGTTTAGTCCCCTACTCAACTGCCAGTTTGAAATGTTAGTTTGTGAGAGACTCAGGAGATACCAGGGACTCCCCTAGTCCCTCTGTGGCAGGCAGACCTGGGGCCCCGTTGTTTGGAGGTCAGGTACCTGGGGGGGCGGGAGGCCCCCGGCACCCTCGGGGCACTCTGGCAGCATGGTGAGCTTCTCCCTGGTGCTGCACCTGCAGGATGGTGAAGGGTTGACCTGTGTCCATTTCTGCTTCTGGAACAGCTGGGTGATGTTTGGGGACACAGAAGGAGTCTTCCAGGGTGTTGAGTTGCCACAGGGGTACTCCCTCATGGAAGACAAGAAAATATTCCATAATCAGCCTCAAAGTTGCTGACAAATCCCTAGGCATAAGAAATTGTGCCCAACCCTTTCCTCCTCCTCTTTAGACCCAGGCCCTTTCTTCTTATTCTCTTGGAGGCTGGTTTCTGCTCAAGCAATATCAAAACTAGGGTTTTGTGACTGACTAGGTGTGGGGCTGGGGAATAACCATCTCTAGCTTGTGGATCGTTTTGTCTCCCTTTTTATTCCTAGCAGCTCTAGCTGTTGAGAGACACAGCAACCAGAAGAGGAATTTGAAATTAGTCTGTTTTGGTCCTTATTGACAGCTTTGAAAAAGACTGAGGGAGAAAAGTTAAAATTATATTGAACTTTTAGGATTCCTGGTGGATGTCAATGGCCTTCGCTAACTCCCTTCTCCAGACTCACAACTATCACAAAGTACTGGCCACTGTGTCACTCACGCCATTCAAGGCCCAATCACACAATAGCATAACCCTATTTCCCTCCCTCCCTGCTCAGAGGCCTTTCAAATAAGTTATGGGGAATCATCTGTCAACTCAACATAGAACTTCTATGCTGAGAAATATAGAGCTGTCCAGTGGTGTGGGGGCTTCCTAGGAGGTAGTGAATGTCCCTGCACACAAGTGTGGAAGGAGAGGTTGGGGGAGTGCTGGTCAGAGACATGGAAGTGACCAGCAGAGCAGGATTGAGTGGGGCCTCCCCAACGCCTGCCATCTTGAACCCACCGTTGGGTCCTCCCAGGGGAGCTAGTCTTCTTAGGACAGGGGCGCGTAGGCACTTACGGAAGCCACCCTTCCTTCAGGCAGCGGTTGCCAAAGCCTGGCTTATTCAGGAGGACGTCTGCAAGTACCGTGAACTGCTCACTGCCTGGTTCATCCATGCTAGACAGAGTGAGACATGTGACTGGGACAGAGCAGGCGCGTGCCAACATCATGCAACTCAGAGCCTTTACTGGATAGCTGCTGTGTGCCAGGTATGTATTGGAGGCACCGAATGCTGCCTTGGGATGGCGCTAGCTCTCCTGGGAGTGCGGTAGGCTGCCTGAACACTCGCAGTGGTCTGATGGCATGTCACCTATGCCTCAAAAAGATGGCGCTTCAACCCATTCACCTAAGCTTTGCATTCCTTTCCCCATTCGGCCTTCCCAAGCAGTCCTGCCTGTCCACTAGGATCGCCTTTCCAAGCAGTGGCAGATACATTAAGTTCCTTTCTGCAGGCAGCCCAAAGACCCCTCCCCTCTCTCATTGGTGAAGGTCCCAGTGAAGTGGGAAGGTCAGGGCCCTTCTAAGCAGCATGTGACCCAGGTGCCCCAAACCCACAGAGGAGAATGGTGACCCCGAGTCCGCGCACCTGAAGAAGGTGTACTGCTGCCCATATATCCAGGGGTGAAGGGTCAAAGCGGGGTATTCGCCAAAAGGAGGGATAACAATAGAAAGCATCAGAGCCAAAAACACAAAGGTAGCCGGGAGCACGATCTGTGGGAGAATAGACGTGGAATAAACATGACTGTGGCATGGAGATGTCACACGTGCGCGTGCACACACATCTTCATTCTTTTAAACATTTATCCTGCAGCCTCCTAATCAGCCCCTGGTGGAGAGGGTTGGGCTTCTGGGGGAACATAATAAGCAGGGTGTGCAAAGGTAAGATGTGCAGAAGAAAACAGAATGTTCTGGTGGCCACTGAAGAATCTGAATGCAGCCCAGTGTTCAGCCAGACTTCAAAGGGCATTTCAAAGAGCAAGTCACGTGACTCACTGTTCTTTAAACCAGAGCTTCTTTTTCTAAATTAAACAACATTAAAAGAAAAAAGAGGGCAATGATTTTGATATGTAGGGTCACTGCAAAAATGAATGAAAACATGACTTTATCCCTCACTGTAAAAATAAAAACAATATTAACATTTTCACTATTATTCTATTTTCTTTGCTAGGGGAGGTCCAACTTACAAAGAAGATTCATGTTACCAAGAATCAAGATAAGGGTTTGGAAAGCAGGAAACAAAA
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CTGTGATTCAAAGAGAGAAAATATTGCTTGAGAAATATAAAGATACATGCTTTAGAATATAAAAAAGAGCAGGGATCGGGTGTTCTTGGCCTAGAACCATTTATAAACCAGACTGTGATAGGTGCTGTGGCAAAATCTAGTTGCTCCCATTATTTGCTCCTCCCTGCTGCCTTAGCCATAGCCTTTTTTGTTGGGTTTGTAAGTGGAAGTACTATGTGGGAACTTCAGAAAACCTTCCCTAAACATAGCACATGTGCACACTCTGCCCTCTGTTTTGCTTCATCCTTCTTCCATTCCGCTGCCTGGAAGGCAGCTCCTGCCTTATTGGCTGATGAGGCTGAGGCCTGTTTAGTGTGGAGGAGAAAGAGAATAGAACATCGTGCACCACCCACGTAGACTTTTAGATGAGTGAGAAACAAGTTGTGTCTTGTTTTATCTGCTGTTAGTTTGGGGTTGTCATCACTTGAGTTGAATCTAATTCTAAATAATTCCTTGCCCACATGATTTCATTAAATCCTCATAATAATATTATGAAATAAGCAGTTATTCCCAATTCACAGGTGATAAAATTAAGGCTCAGAGAGGTCAAGTAGTCCACCTGGGGCTCTCCGTGTCCCATACCTGTGCTTTCCCACTGAACTGCATAGCCTGTTTGGGAACAGTTTATTCATTGACAAATCATTGGACAGGGCTGTCTAAGGCCCAGCCCTGGCAAGTCAGCTGGGAGGCCCATTATCAACCACGGACACAGCCTTCTTTGATGTCTCTAAATCCCCCAGGAGATGCTCACTGTAATCTGTTCTGGACTTTAGAACTCCCAGGACAGGGTGCTGCTCAGAGCCAAGATCATTAATGTCCCTGCAAAAGATGGATGCTGGCTGTGCATGTATTTGTGTACATACCTGCAGATGTTAGAGACACAGCACATGGAGAGCTTCTTAATTAAGACTGTTAATAAGTGTGTAAACACATTTCCATTTGAATGTACATCATAGCATTGCTTATAATGGTGAAAACTAAAAAACCTAAGTGGCGAATAATGGGAGATCAGTTAATTTAAAGTAACTTTAGGCCAGGAGCAGTGGCTGACGCTTGTAATCCTAGCACTCTGGTAGGCAGAAGTGGGTAGATCACTTGAGGCCAGGAGTTCAACACCAGCCTGGCCAACATGGTAAAACCCCATCTGTACTAAAACTACCAAAAAAATTAGGCGGGCATGATGGTGCATGCCTGTAATCCCCACTACTCGGGGGGGCTGAGGCACAAGAATTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCGCTGCACTCCAACCTGGGTGACAGAGAGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAATTCAAACAATGGGATAATATACAGATATTAAAAGTGATGCAGATGTCTATTTATTGACATGGATGCATGTTCCTAGTAAATTATGCAGTAAATCAGATTTTAAGACAATATTTGGAATATAATCTGTTTGGGTGGCTGCAAACCAAACATTATCTGTGTTTATATCCAAGCGATGATTTTTTTTCCTTCTGACTTACCTGTGTTTTCTAATTTTTCTATAATGAGCACATATGACTTAATTTTTTTTAGTGCTTAAACACATTTTTTCTACTAGATCAAATAGGAAGTATCTGGTGGAAAATGAAGCTTTTGGTGAGTGGCTTCCTCCAGTTGGCAGCCACAGCGCCCTGTGGGGAGCCCCTCCCAGAGGGTGCAGGGAGTTTGGTTTAGTCCCCTACTCAACTGCCAGTTTGAAATGTTAGTTTGTGAGAGACTCAGGAGATACCAGGGACTCCCCTAGTCCCTCTGTGGCAGGCAGACCTGGGGCCCCGTTGTTTGGAGGTCAGGTACCTGGGGGGGCGGGAGGCCCCCGGCACCCTCGGGGCACTCTGGCAGCATGGTGAGCTTCTCCCTGGTGCTGCACCTGCAGGATGGTGAAGGGTTGACCTGTGTCCATTTCTGCTTCTGGAACAGCTGGGTGATGTTTGGGGACACAGAAGGAGTCTTCCGGGGTGTTGAGTTGCCACAGGGGTACTCCCTCATGGAAGACAAGAAAATATTCCATAATCAGCCTCAAAGTTGCTGACAAATCCCTAGGCATAAGAAATTGTGCCCAACCCTTTCCTCCTCCTCTTTAGACCCAGGCCCTTTCTTCTTATTCTCTTGGAGGCTGGTTTCTGCTCAAGCAATATCAAAACTAGGGTTTTGTGACTGACTAGGTGTGGGGCTGGGGAATAACCATCTCTAGCTTGTGGATCGTTTTGTCTCCCTTTTTATTCCTAGCAGCTCTAGCTGTTGAGAGACACAGCAACCAGAAGAGGAATTTGAAATTAGTCTGTTTTGGTCCTTATTGACAGCTTTGAAAAAGACTGAGGGAGAAAAGTTAAAATTATATTGAACTTTTAGGATTCCTGGTGGATGTCAATGGCCTTCGCTAACTCCCTTCTCCAGACTCACAACTATCACAAAGTACTGGCCACTGTGTCACTCACGCCATTCAAGGCCCAATCACACAATAGCATAACCCTATTTCCCTCCCTCCCTGCTCAGAGGCCTTTCAAATAAGTTATGGGGAATCATCTGTCAACTCAACATAGAACTTCTATGCTGAGAAATATAGAGCTGTCCAGTGGTGTGGGGGCTTCCTAGGAGGTAGTGAATGTCCCTGCACACAAGTGTGGAAGGAGAGGTTGGGGGAGTGCTGGTCAGAGACATGGAAGTGACCAGCAGAGCAGGATTGAGTGGGGCCTCCCCAACGCCTGCCATCTTGAACCCACCGTTGGGTCCTCCCAGGGGAGCTAGTCTTCTTAGGACAGGGGCGCGTAGGCACTTACGGAAGCCACCCTTCCTTCAGGCAGCGGTTGCCAAAGCCTGGCTTATTCAGGAGGACGTCTGCAAGTACCGTGAACTGCTCACTGCCTGGTTCATCCATGCTAGACAGAGTGAGACATGTGACTGGGACAGAGCAGGCGCGTGCCAACATCATGCAACTCAGAGCCTTTACTGGATAGCTGCTGTGTGCCAGGTATGTATTGGAGGCACCGAATGCTGCCTTGGGATGGCGCTAGCTCTCCTGGGAGTGCGGTAGGCTGCCTGAACACTCGCAGTGGTCTGATGGCATGTCACCTATGCCTCAAAAAGATGGCGCTTCAACCCATTCACCTAAGCTTTGCATTCCTTTCCCCATTCGGCCTTCCCAAGCAGTCCTGCCTGTCCACTAGGATCGCCTTTCCAAGCAGTGGCAGATACATTAAGTTCCTTTCTGCAGGCAGCCCAAAGACCCCTCCCCTCTCTCATTGGTGAAGGTCCCAGTGAAGTGGGAAGGTCAGGGCCCTTCTAAGCAGCATGTGACCCAGGTGCCCCAAACCCACAGAGGAGAATGGTGACCCCGAGTCCGCGCACCTGAAGAAGGTGTACTGCTGCCCATATATCCAGGGGTGAAGGGTCAAAGCGGGGTATTCGCCAAAAGGAGGGATAACAATAGAAAGCATCAGAGCCAAAAACACAAAGGTAGCCGGGAGCACGATCTGTGGGAGAATAGACGTGGAATAAACATGACTGTGGCATGGAGATGTCACACGTGCGCGTGCACACACATCTTCATTCTTTTAAACATTTATCCTGCAGCCTCCTAATCAGCCCCTGGTGGAGAGGGTTGGGCTTCTGGGGGAACATAATAAGCAGGGTGTGCAAAGGTAAGATGTGCAGAAGAAAACAGAATGTTCTGGTGGCCACTGAAGAATCTGAATGCAGCCCAGTGTTCAGCCAGACTTCAAAGGGCATTTCAAAGAGCAAGTCACGTGACTCACTGTTCTTTAAACCAGAGCTTCTTTTTCTAAATTAAACAACATTAAAAGAAAAAAGAGGGCAATGATTTTGATATGTAGGGTCACTGCAAAAATGAATGAAAACATGACTTTATCCCTCACTGTAAAAATAAAAACAATATTAACATTTTCACTATTATTCTATTTTCTTTGCTAGGGGAGGTCCAACTTACAAAGAAGATTCATGTTACCAAGAATCAAGATAAGGGTTTGGAAAGCAGGAAACAAAA
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Task1_train_1179
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This mutation occurs in ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Retinitis pigmentosa
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AATGTCCCTGCAAAAGATGGATGCTGGCTGTGCATGTATTTGTGTACATACCTGCAGATGTTAGAGACACAGCACATGGAGAGCTTCTTAATTAAGACTGTTAATAAGTGTGTAAACACATTTCCATTTGAATGTACATCATAGCATTGCTTATAATGGTGAAAACTAAAAAACCTAAGTGGCGAATAATGGGAGATCAGTTAATTTAAAGTAACTTTAGGCCAGGAGCAGTGGCTGACGCTTGTAATCCTAGCACTCTGGTAGGCAGAAGTGGGTAGATCACTTGAGGCCAGGAGTTCAACACCAGCCTGGCCAACATGGTAAAACCCCATCTGTACTAAAACTACCAAAAAAATTAGGCGGGCATGATGGTGCATGCCTGTAATCCCCACTACTCGGGGGGGCTGAGGCACAAGAATTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCGCTGCACTCCAACCTGGGTGACAGAGAGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAATTCAAACAATGGGATAATATACAGATATTAAAAGTGATGCAGATGTCTATTTATTGACATGGATGCATGTTCCTAGTAAATTATGCAGTAAATCAGATTTTAAGACAATATTTGGAATATAATCTGTTTGGGTGGCTGCAAACCAAACATTATCTGTGTTTATATCCAAGCGATGATTTTTTTTCCTTCTGACTTACCTGTGTTTTCTAATTTTTCTATAATGAGCACATATGACTTAATTTTTTTTAGTGCTTAAACACATTTTTTCTACTAGATCAAATAGGAAGTATCTGGTGGAAAATGAAGCTTTTGGTGAGTGGCTTCCTCCAGTTGGCAGCCACAGCGCCCTGTGGGGAGCCCCTCCCAGAGGGTGCAGGGAGTTTGGTTTAGTCCCCTACTCAACTGCCAGTTTGAAATGTTAGTTTGTGAGAGACTCAGGAGATACCAGGGACTCCCCTAGTCCCTCTGTGGCAGGCAGACCTGGGGCCCCGTTGTTTGGAGGTCAGGTACCTGGGGGGGCGGGAGGCCCCCGGCACCCTCGGGGCACTCTGGCAGCATGGTGAGCTTCTCCCTGGTGCTGCACCTGCAGGATGGTGAAGGGTTGACCTGTGTCCATTTCTGCTTCTGGAACAGCTGGGTGATGTTTGGGGACACAGAAGGAGTCTTCCAGGGTGTTGAGTTGCCACAGGGGTACTCCCTCATGGAAGACAAGAAAATATTCCATAATCAGCCTCAAAGTTGCTGACAAATCCCTAGGCATAAGAAATTGTGCCCAACCCTTTCCTCCTCCTCTTTAGACCCAGGCCCTTTCTTCTTATTCTCTTGGAGGCTGGTTTCTGCTCAAGCAATATCAAAACTAGGGTTTTGTGACTGACTAGGTGTGGGGCTGGGGAATAACCATCTCTAGCTTGTGGATCGTTTTGTCTCCCTTTTTATTCCTAGCAGCTCTAGCTGTTGAGAGACACAGCAACCAGAAGAGGAATTTGAAATTAGTCTGTTTTGGTCCTTATTGACAGCTTTGAAAAAGACTGAGGGAGAAAAGTTAAAATTATATTGAACTTTTAGGATTCCTGGTGGATGTCAATGGCCTTCGCTAACTCCCTTCTCCAGACTCACAACTATCACAAAGTACTGGCCACTGTGTCACTCACGCCATTCAAGGCCCAATCACACAATAGCATAACCCTATTTCCCTCCCTCCCTGCTCAGAGGCCTTTCAAATAAGTTATGGGGAATCATCTGTCAACTCAACATAGAACTTCTATGCTGAGAAATATAGAGCTGTCCAGTGGTGTGGGGGCTTCCTAGGAGGTAGTGAATGTCCCTGCACACAAGTGTGGAAGGAGAGGTTGGGGGAGTGCTGGTCAGAGACATGGAAGTGACCAGCAGAGCAGGATTGAGTGGGGCCTCCCCAACGCCTGCCATCTTGAACCCACCGTTGGGTCCTCCCAGGGGAGCTAGTCTTCTTAGGACAGGGGCGCGTAGGCACTTACGGAAGCCACCCTTCCTTCAGGCAGCGGTTGCCAAAGCCTGGCTTATTCAGGAGGACGTCTGCAAGTACCGTGAACTGCTCACTGCCTGGTTCATCCATGCTAGACAGAGTGAGACATGTGACTGGGACAGAGCAGGCGCGTGCCAACATCATGCAACTCAGAGCCTTTACTGGATAGCTGCTGTGTGCCAGGTATGTATTGGAGGCACCGAATGCTGCCTTGGGATGGCGCTAGCTCTCCTGGGAGTGCGGTAGGCTGCCTGAACACTCGCAGTGGTCTGATGGCATGTCACCTATGCCTCAAAAAGATGGCGCTTCAACCCATTCACCTAAGCTTTGCATTCCTTTCCCCATTCGGCCTTCCCAAGCAGTCCTGCCTGTCCACTAGGATCGCCTTTCCAAGCAGTGGCAGATACATTAAGTTCCTTTCTGCAGGCAGCCCAAAGACCCCTCCCCTCTCTCATTGGTGAAGGTCCCAGTGAAGTGGGAAGGTCAGGGCCCTTCTAAGCAGCATGTGACCCAGGTGCCCCAAACCCACAGAGGAGAATGGTGACCCCGAGTCCGCGCACCTGAAGAAGGTGTACTGCTGCCCATATATCCAGGGGTGAAGGGTCAAAGCGGGGTATTCGCCAAAAGGAGGGATAACAATAGAAAGCATCAGAGCCAAAAACACAAAGGTAGCCGGGAGCACGATCTGTGGGAGAATAGACGTGGAATAAACATGACTGTGGCATGGAGATGTCACACGTGCGCGTGCACACACATCTTCATTCTTTTAAACATTTATCCTGCAGCCTCCTAATCAGCCCCTGGTGGAGAGGGTTGGGCTTCTGGGGGAACATAATAAGCAGGGTGTGCAAAGGTAAGATGTGCAGAAGAAAACAGAATGTTCTGGTGGCCACTGAAGAATCTGAATGCAGCCCAGTGTTCAGCCAGACTTCAAAGGGCATTTCAAAGAGCAAGTCACGTGACTCACTGTTCTTTAAACCAGAGCTTCTTTTTCTAAATTAAACAACATTAAAAGAAAAAAGAGGGCAATGATTTTGATATGTAGGGTCACTGCAAAAATGAATGAAAACATGACTTTATCCCTCACTGTAAAAATAAAAACAATATTAACATTTTCACTATTATTCTATTTTCTTTGCTAGGGGAGGTCCAACTTACAAAGAAGATTCATGTTACCAAGAATCAAGATAAGGGTTTGGAAAGCAGGAAACAAAACCAGCAGAATCTAAAGAGGGTGCTCCTTGCTGAGTTATAACCCATGCCTGAAGGAACACTCAGGAGAGGAGGGGAAGGCTGGGAGAGGAGCCACTGAGCTCAGCTAAACACCGACCGACAATAGTACCTGCGCCAGGAAGTCCTTGTGGCTGCGGATGGTGTGTTGGAATCTCTTGACCAGCAGCGCCTGCACATGCTGGAGGACCAGCTGTGTCCCCGTGTTGAGCTGCGGGCCTGGGCACTCTGGCTCTGGGGGAGGCTGGCCCTCTGGGTGAGCAGCCGGCGCCCCTGGGGAGCAGACATTGGAGTCCTGGGGTGTCTGTCCAGCCTTCTCTCTGGGACCCAAGCAGGGGTGTCGGGGGTTGACGTTTTCTCTTTTCTGCTGAGCGCCACCTGTTTTGAGAGATTGAATTAATAATTTGGAAAATGCCTATAAGGTCTGGATCTCTAATGCCATTTTTTTTTTCCCTTACAGCATTGATTTTCCTCTTCATTTAAGTCAGCAATGAAATACCAGGCTGGTAGCTTAATCATCTTTATAAAAATCTATTTCTAGTGTAAATTACTTATACAGAGAAATTGTATAGATTCACCTGAAATTGCCTTAAAATTCTCTATTAACATTAAAGAGAACAAAATAGCTCTAAAAGCATTGACATGGAGAAGTTTAAAATACGTAACTTGGTTAATAAAAAAACAAAACTGGCTGGGCACGGAGGCTCACGCCTGTCATCTCAGCACTTTGGGAGGCTGAGGTGGATGGATCATTTGAGGTCAGCAGTTTGAGACCAGCTTGACCTACATAGTGAAACCCCCTCTCTACAAAAATACAAAAATTAGCCAGGCATGGT
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AATGTCCCTGCAAAAGATGGATGCTGGCTGTGCATGTATTTGTGTACATACCTGCAGATGTTAGAGACACAGCACATGGAGAGCTTCTTAATTAAGACTGTTAATAAGTGTGTAAACACATTTCCATTTGAATGTACATCATAGCATTGCTTATAATGGTGAAAACTAAAAAACCTAAGTGGCGAATAATGGGAGATCAGTTAATTTAAAGTAACTTTAGGCCAGGAGCAGTGGCTGACGCTTGTAATCCTAGCACTCTGGTAGGCAGAAGTGGGTAGATCACTTGAGGCCAGGAGTTCAACACCAGCCTGGCCAACATGGTAAAACCCCATCTGTACTAAAACTACCAAAAAAATTAGGCGGGCATGATGGTGCATGCCTGTAATCCCCACTACTCGGGGGGGCTGAGGCACAAGAATTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCGCTGCACTCCAACCTGGGTGACAGAGAGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAATTCAAACAATGGGATAATATACAGATATTAAAAGTGATGCAGATGTCTATTTATTGACATGGATGCATGTTCCTAGTAAATTATGCAGTAAATCAGATTTTAAGACAATATTTGGAATATAATCTGTTTGGGTGGCTGCAAACCAAACATTATCTGTGTTTATATCCAAGCGATGATTTTTTTTCCTTCTGACTTACCTGTGTTTTCTAATTTTTCTATAATGAGCACATATGACTTAATTTTTTTTAGTGCTTAAACACATTTTTTCTACTAGATCAAATAGGAAGTATCTGGTGGAAAATGAAGCTTTTGGTGAGTGGCTTCCTCCAGTTGGCAGCCACAGCGCCCTGTGGGGAGCCCCTCCCAGAGGGTGCAGGGAGTTTGGTTTAGTCCCCTACTCAACTGCCAGTTTGAAATGTTAGTTTGTGAGAGACTCAGGAGATACCAGGGACTCCCCTAGTCCCTCTGTGGCAGGCAGACCTGGGGCCCCGTTGTTTGGAGGTCAGGTACCTGGGGGGGCGGGAGGCCCCCGGCACCCTCGGGGCACTCTGGCAGCATGGTGAGCTTCTCCCTGGTGCTGCACCTGCAGGATGGTGAAGGGTTGACCTGTGTCCATTTCTGCTTCTGGAACAGCTGGGTGATGTTTGGGGACACAGAAGGAGTCTTCCAGGGTGTTGAGTTGCCACAGGGGTACTCCCTCATGGAAGACAAGAAAATATTCCATAATCAGCCTCAAAGTTGCTGACAAATCCCTAGGCATAAGAAATTGTGCCCAACCCTTTCCTCCTCCTCTTTAGACCCAGGCCCTTTCTTCTTATTCTCTTGGAGGCTGGTTTCTGCTCAAGCAATATCAAAACTAGGGTTTTGTGACTGACTAGGTGTGGGGCTGGGGAATAACCATCTCTAGCTTGTGGATCGTTTTGTCTCCCTTTTTATTCCTAGCAGCTCTAGCTGTTGAGAGACACAGCAACCAGAAGAGGAATTTGAAATTAGTCTGTTTTGGTCCTTATTGACAGCTTTGAAAAAGACTGAGGGAGAAAAGTTAAAATTATATTGAACTTTTAGGATTCCTGGTGGATGTCAATGGCCTTCGCTAACTCCCTTCTCCAGACTCACAACTATCACAAAGTACTGGCCACTGTGTCACTCACGCCATTCAAGGCCCAATCACACAATAGCATAACCCTATTTCCCTCCCTCCCTGCTCAGAGGCCTTTCAAATAAGTTATGGGGAATCATCTGTCAACTCAACATAGAACTTCTATGCTGAGAAATATAGAGCTGTCCAGTGGTGTGGGGGCTTCCTAGGAGGTAGTGAATGTCCCTGCACACAAGTGTGGAAGGAGAGGTTGGGGGAGTGCTGGTCAGAGACATGGAAGTGACCAGCAGAGCAGGATTGAGTGGGGCCTCCCCAACGCCTGCCATCTTGAACCCACCGTTGGGTCCTCCCAGGGGAGCTAGTCTTCTTAGGACAGGGGCGCGTAGGCACTTACGGAAGCCACCCTTCCTTCAGGCAGCGTTTGCCAAAGCCTGGCTTATTCAGGAGGACGTCTGCAAGTACCGTGAACTGCTCACTGCCTGGTTCATCCATGCTAGACAGAGTGAGACATGTGACTGGGACAGAGCAGGCGCGTGCCAACATCATGCAACTCAGAGCCTTTACTGGATAGCTGCTGTGTGCCAGGTATGTATTGGAGGCACCGAATGCTGCCTTGGGATGGCGCTAGCTCTCCTGGGAGTGCGGTAGGCTGCCTGAACACTCGCAGTGGTCTGATGGCATGTCACCTATGCCTCAAAAAGATGGCGCTTCAACCCATTCACCTAAGCTTTGCATTCCTTTCCCCATTCGGCCTTCCCAAGCAGTCCTGCCTGTCCACTAGGATCGCCTTTCCAAGCAGTGGCAGATACATTAAGTTCCTTTCTGCAGGCAGCCCAAAGACCCCTCCCCTCTCTCATTGGTGAAGGTCCCAGTGAAGTGGGAAGGTCAGGGCCCTTCTAAGCAGCATGTGACCCAGGTGCCCCAAACCCACAGAGGAGAATGGTGACCCCGAGTCCGCGCACCTGAAGAAGGTGTACTGCTGCCCATATATCCAGGGGTGAAGGGTCAAAGCGGGGTATTCGCCAAAAGGAGGGATAACAATAGAAAGCATCAGAGCCAAAAACACAAAGGTAGCCGGGAGCACGATCTGTGGGAGAATAGACGTGGAATAAACATGACTGTGGCATGGAGATGTCACACGTGCGCGTGCACACACATCTTCATTCTTTTAAACATTTATCCTGCAGCCTCCTAATCAGCCCCTGGTGGAGAGGGTTGGGCTTCTGGGGGAACATAATAAGCAGGGTGTGCAAAGGTAAGATGTGCAGAAGAAAACAGAATGTTCTGGTGGCCACTGAAGAATCTGAATGCAGCCCAGTGTTCAGCCAGACTTCAAAGGGCATTTCAAAGAGCAAGTCACGTGACTCACTGTTCTTTAAACCAGAGCTTCTTTTTCTAAATTAAACAACATTAAAAGAAAAAAGAGGGCAATGATTTTGATATGTAGGGTCACTGCAAAAATGAATGAAAACATGACTTTATCCCTCACTGTAAAAATAAAAACAATATTAACATTTTCACTATTATTCTATTTTCTTTGCTAGGGGAGGTCCAACTTACAAAGAAGATTCATGTTACCAAGAATCAAGATAAGGGTTTGGAAAGCAGGAAACAAAACCAGCAGAATCTAAAGAGGGTGCTCCTTGCTGAGTTATAACCCATGCCTGAAGGAACACTCAGGAGAGGAGGGGAAGGCTGGGAGAGGAGCCACTGAGCTCAGCTAAACACCGACCGACAATAGTACCTGCGCCAGGAAGTCCTTGTGGCTGCGGATGGTGTGTTGGAATCTCTTGACCAGCAGCGCCTGCACATGCTGGAGGACCAGCTGTGTCCCCGTGTTGAGCTGCGGGCCTGGGCACTCTGGCTCTGGGGGAGGCTGGCCCTCTGGGTGAGCAGCCGGCGCCCCTGGGGAGCAGACATTGGAGTCCTGGGGTGTCTGTCCAGCCTTCTCTCTGGGACCCAAGCAGGGGTGTCGGGGGTTGACGTTTTCTCTTTTCTGCTGAGCGCCACCTGTTTTGAGAGATTGAATTAATAATTTGGAAAATGCCTATAAGGTCTGGATCTCTAATGCCATTTTTTTTTTCCCTTACAGCATTGATTTTCCTCTTCATTTAAGTCAGCAATGAAATACCAGGCTGGTAGCTTAATCATCTTTATAAAAATCTATTTCTAGTGTAAATTACTTATACAGAGAAATTGTATAGATTCACCTGAAATTGCCTTAAAATTCTCTATTAACATTAAAGAGAACAAAATAGCTCTAAAAGCATTGACATGGAGAAGTTTAAAATACGTAACTTGGTTAATAAAAAAACAAAACTGGCTGGGCACGGAGGCTCACGCCTGTCATCTCAGCACTTTGGGAGGCTGAGGTGGATGGATCATTTGAGGTCAGCAGTTTGAGACCAGCTTGACCTACATAGTGAAACCCCCTCTCTACAAAAATACAAAAATTAGCCAGGCATGGT
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Task1_train_1180
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This variant lies on Chromosome 1 and affects the gene ABCA4 (ATP binding cassette subfamily A member 4). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Retinal dystrophy
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AATGTCCCTGCAAAAGATGGATGCTGGCTGTGCATGTATTTGTGTACATACCTGCAGATGTTAGAGACACAGCACATGGAGAGCTTCTTAATTAAGACTGTTAATAAGTGTGTAAACACATTTCCATTTGAATGTACATCATAGCATTGCTTATAATGGTGAAAACTAAAAAACCTAAGTGGCGAATAATGGGAGATCAGTTAATTTAAAGTAACTTTAGGCCAGGAGCAGTGGCTGACGCTTGTAATCCTAGCACTCTGGTAGGCAGAAGTGGGTAGATCACTTGAGGCCAGGAGTTCAACACCAGCCTGGCCAACATGGTAAAACCCCATCTGTACTAAAACTACCAAAAAAATTAGGCGGGCATGATGGTGCATGCCTGTAATCCCCACTACTCGGGGGGGCTGAGGCACAAGAATTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCGCTGCACTCCAACCTGGGTGACAGAGAGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAATTCAAACAATGGGATAATATACAGATATTAAAAGTGATGCAGATGTCTATTTATTGACATGGATGCATGTTCCTAGTAAATTATGCAGTAAATCAGATTTTAAGACAATATTTGGAATATAATCTGTTTGGGTGGCTGCAAACCAAACATTATCTGTGTTTATATCCAAGCGATGATTTTTTTTCCTTCTGACTTACCTGTGTTTTCTAATTTTTCTATAATGAGCACATATGACTTAATTTTTTTTAGTGCTTAAACACATTTTTTCTACTAGATCAAATAGGAAGTATCTGGTGGAAAATGAAGCTTTTGGTGAGTGGCTTCCTCCAGTTGGCAGCCACAGCGCCCTGTGGGGAGCCCCTCCCAGAGGGTGCAGGGAGTTTGGTTTAGTCCCCTACTCAACTGCCAGTTTGAAATGTTAGTTTGTGAGAGACTCAGGAGATACCAGGGACTCCCCTAGTCCCTCTGTGGCAGGCAGACCTGGGGCCCCGTTGTTTGGAGGTCAGGTACCTGGGGGGGCGGGAGGCCCCCGGCACCCTCGGGGCACTCTGGCAGCATGGTGAGCTTCTCCCTGGTGCTGCACCTGCAGGATGGTGAAGGGTTGACCTGTGTCCATTTCTGCTTCTGGAACAGCTGGGTGATGTTTGGGGACACAGAAGGAGTCTTCCAGGGTGTTGAGTTGCCACAGGGGTACTCCCTCATGGAAGACAAGAAAATATTCCATAATCAGCCTCAAAGTTGCTGACAAATCCCTAGGCATAAGAAATTGTGCCCAACCCTTTCCTCCTCCTCTTTAGACCCAGGCCCTTTCTTCTTATTCTCTTGGAGGCTGGTTTCTGCTCAAGCAATATCAAAACTAGGGTTTTGTGACTGACTAGGTGTGGGGCTGGGGAATAACCATCTCTAGCTTGTGGATCGTTTTGTCTCCCTTTTTATTCCTAGCAGCTCTAGCTGTTGAGAGACACAGCAACCAGAAGAGGAATTTGAAATTAGTCTGTTTTGGTCCTTATTGACAGCTTTGAAAAAGACTGAGGGAGAAAAGTTAAAATTATATTGAACTTTTAGGATTCCTGGTGGATGTCAATGGCCTTCGCTAACTCCCTTCTCCAGACTCACAACTATCACAAAGTACTGGCCACTGTGTCACTCACGCCATTCAAGGCCCAATCACACAATAGCATAACCCTATTTCCCTCCCTCCCTGCTCAGAGGCCTTTCAAATAAGTTATGGGGAATCATCTGTCAACTCAACATAGAACTTCTATGCTGAGAAATATAGAGCTGTCCAGTGGTGTGGGGGCTTCCTAGGAGGTAGTGAATGTCCCTGCACACAAGTGTGGAAGGAGAGGTTGGGGGAGTGCTGGTCAGAGACATGGAAGTGACCAGCAGAGCAGGATTGAGTGGGGCCTCCCCAACGCCTGCCATCTTGAACCCACCGTTGGGTCCTCCCAGGGGAGCTAGTCTTCTTAGGACAGGGGCGCGTAGGCACTTACGGAAGCCACCCTTCCTTCAGGCAGCGGTTGCCAAAGCCTGGCTTATTCAGGAGGACGTCTGCAAGTACCGTGAACTGCTCACTGCCTGGTTCATCCATGCTAGACAGAGTGAGACATGTGACTGGGACAGAGCAGGCGCGTGCCAACATCATGCAACTCAGAGCCTTTACTGGATAGCTGCTGTGTGCCAGGTATGTATTGGAGGCACCGAATGCTGCCTTGGGATGGCGCTAGCTCTCCTGGGAGTGCGGTAGGCTGCCTGAACACTCGCAGTGGTCTGATGGCATGTCACCTATGCCTCAAAAAGATGGCGCTTCAACCCATTCACCTAAGCTTTGCATTCCTTTCCCCATTCGGCCTTCCCAAGCAGTCCTGCCTGTCCACTAGGATCGCCTTTCCAAGCAGTGGCAGATACATTAAGTTCCTTTCTGCAGGCAGCCCAAAGACCCCTCCCCTCTCTCATTGGTGAAGGTCCCAGTGAAGTGGGAAGGTCAGGGCCCTTCTAAGCAGCATGTGACCCAGGTGCCCCAAACCCACAGAGGAGAATGGTGACCCCGAGTCCGCGCACCTGAAGAAGGTGTACTGCTGCCCATATATCCAGGGGTGAAGGGTCAAAGCGGGGTATTCGCCAAAAGGAGGGATAACAATAGAAAGCATCAGAGCCAAAAACACAAAGGTAGCCGGGAGCACGATCTGTGGGAGAATAGACGTGGAATAAACATGACTGTGGCATGGAGATGTCACACGTGCGCGTGCACACACATCTTCATTCTTTTAAACATTTATCCTGCAGCCTCCTAATCAGCCCCTGGTGGAGAGGGTTGGGCTTCTGGGGGAACATAATAAGCAGGGTGTGCAAAGGTAAGATGTGCAGAAGAAAACAGAATGTTCTGGTGGCCACTGAAGAATCTGAATGCAGCCCAGTGTTCAGCCAGACTTCAAAGGGCATTTCAAAGAGCAAGTCACGTGACTCACTGTTCTTTAAACCAGAGCTTCTTTTTCTAAATTAAACAACATTAAAAGAAAAAAGAGGGCAATGATTTTGATATGTAGGGTCACTGCAAAAATGAATGAAAACATGACTTTATCCCTCACTGTAAAAATAAAAACAATATTAACATTTTCACTATTATTCTATTTTCTTTGCTAGGGGAGGTCCAACTTACAAAGAAGATTCATGTTACCAAGAATCAAGATAAGGGTTTGGAAAGCAGGAAACAAAACCAGCAGAATCTAAAGAGGGTGCTCCTTGCTGAGTTATAACCCATGCCTGAAGGAACACTCAGGAGAGGAGGGGAAGGCTGGGAGAGGAGCCACTGAGCTCAGCTAAACACCGACCGACAATAGTACCTGCGCCAGGAAGTCCTTGTGGCTGCGGATGGTGTGTTGGAATCTCTTGACCAGCAGCGCCTGCACATGCTGGAGGACCAGCTGTGTCCCCGTGTTGAGCTGCGGGCCTGGGCACTCTGGCTCTGGGGGAGGCTGGCCCTCTGGGTGAGCAGCCGGCGCCCCTGGGGAGCAGACATTGGAGTCCTGGGGTGTCTGTCCAGCCTTCTCTCTGGGACCCAAGCAGGGGTGTCGGGGGTTGACGTTTTCTCTTTTCTGCTGAGCGCCACCTGTTTTGAGAGATTGAATTAATAATTTGGAAAATGCCTATAAGGTCTGGATCTCTAATGCCATTTTTTTTTTCCCTTACAGCATTGATTTTCCTCTTCATTTAAGTCAGCAATGAAATACCAGGCTGGTAGCTTAATCATCTTTATAAAAATCTATTTCTAGTGTAAATTACTTATACAGAGAAATTGTATAGATTCACCTGAAATTGCCTTAAAATTCTCTATTAACATTAAAGAGAACAAAATAGCTCTAAAAGCATTGACATGGAGAAGTTTAAAATACGTAACTTGGTTAATAAAAAAACAAAACTGGCTGGGCACGGAGGCTCACGCCTGTCATCTCAGCACTTTGGGAGGCTGAGGTGGATGGATCATTTGAGGTCAGCAGTTTGAGACCAGCTTGACCTACATAGTGAAACCCCCTCTCTACAAAAATACAAAAATTAGCCAGGCATGGT
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AATGTCCCTGCAAAAGATGGATGCTGGCTGTGCATGTATTTGTGTACATACCTGCAGATGTTAGAGACACAGCACATGGAGAGCTTCTTAATTAAGACTGTTAATAAGTGTGTAAACACATTTCCATTTGAATGTACATCATAGCATTGCTTATAATGGTGAAAACTAAAAAACCTAAGTGGCGAATAATGGGAGATCAGTTAATTTAAAGTAACTTTAGGCCAGGAGCAGTGGCTGACGCTTGTAATCCTAGCACTCTGGTAGGCAGAAGTGGGTAGATCACTTGAGGCCAGGAGTTCAACACCAGCCTGGCCAACATGGTAAAACCCCATCTGTACTAAAACTACCAAAAAAATTAGGCGGGCATGATGGTGCATGCCTGTAATCCCCACTACTCGGGGGGGCTGAGGCACAAGAATTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCGCTGCACTCCAACCTGGGTGACAGAGAGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAATTCAAACAATGGGATAATATACAGATATTAAAAGTGATGCAGATGTCTATTTATTGACATGGATGCATGTTCCTAGTAAATTATGCAGTAAATCAGATTTTAAGACAATATTTGGAATATAATCTGTTTGGGTGGCTGCAAACCAAACATTATCTGTGTTTATATCCAAGCGATGATTTTTTTTCCTTCTGACTTACCTGTGTTTTCTAATTTTTCTATAATGAGCACATATGACTTAATTTTTTTTAGTGCTTAAACACATTTTTTCTACTAGATCAAATAGGAAGTATCTGGTGGAAAATGAAGCTTTTGGTGAGTGGCTTCCTCCAGTTGGCAGCCACAGCGCCCTGTGGGGAGCCCCTCCCAGAGGGTGCAGGGAGTTTGGTTTAGTCCCCTACTCAACTGCCAGTTTGAAATGTTAGTTTGTGAGAGACTCAGGAGATACCAGGGACTCCCCTAGTCCCTCTGTGGCAGGCAGACCTGGGGCCCCGTTGTTTGGAGGTCAGGTACCTGGGGGGGCGGGAGGCCCCCGGCACCCTCGGGGCACTCTGGCAGCATGGTGAGCTTCTCCCTGGTGCTGCACCTGCAGGATGGTGAAGGGTTGACCTGTGTCCATTTCTGCTTCTGGAACAGCTGGGTGATGTTTGGGGACACAGAAGGAGTCTTCCAGGGTGTTGAGTTGCCACAGGGGTACTCCCTCATGGAAGACAAGAAAATATTCCATAATCAGCCTCAAAGTTGCTGACAAATCCCTAGGCATAAGAAATTGTGCCCAACCCTTTCCTCCTCCTCTTTAGACCCAGGCCCTTTCTTCTTATTCTCTTGGAGGCTGGTTTCTGCTCAAGCAATATCAAAACTAGGGTTTTGTGACTGACTAGGTGTGGGGCTGGGGAATAACCATCTCTAGCTTGTGGATCGTTTTGTCTCCCTTTTTATTCCTAGCAGCTCTAGCTGTTGAGAGACACAGCAACCAGAAGAGGAATTTGAAATTAGTCTGTTTTGGTCCTTATTGACAGCTTTGAAAAAGACTGAGGGAGAAAAGTTAAAATTATATTGAACTTTTAGGATTCCTGGTGGATGTCAATGGCCTTCGCTAACTCCCTTCTCCAGACTCACAACTATCACAAAGTACTGGCCACTGTGTCACTCACGCCATTCAAGGCCCAATCACACAATAGCATAACCCTATTTCCCTCCCTCCCTGCTCAGAGGCCTTTCAAATAAGTTATGGGGAATCATCTGTCAACTCAACATAGAACTTCTATGCTGAGAAATATAGAGCTGTCCAGTGGTGTGGGGGCTTCCTAGGAGGTAGTGAATGTCCCTGCACACAAGTGTGGAAGGAGAGGTTGGGGGAGTGCTGGTCAGAGACATGGAAGTGACCAGCAGAGCAGGATTGAGTGGGGCCTCCCCAACGCCTGCCATCTTGAACCCACCGTTGGGTCCTCCCAGGGGAGCTAGTCTTCTTAGGACAGGGGCGCGTAGGCACTTACGGAAGCCACCCTTCCTTCAGGCAGCGTTTGCCAAAGCCTGGCTTATTCAGGAGGACGTCTGCAAGTACCGTGAACTGCTCACTGCCTGGTTCATCCATGCTAGACAGAGTGAGACATGTGACTGGGACAGAGCAGGCGCGTGCCAACATCATGCAACTCAGAGCCTTTACTGGATAGCTGCTGTGTGCCAGGTATGTATTGGAGGCACCGAATGCTGCCTTGGGATGGCGCTAGCTCTCCTGGGAGTGCGGTAGGCTGCCTGAACACTCGCAGTGGTCTGATGGCATGTCACCTATGCCTCAAAAAGATGGCGCTTCAACCCATTCACCTAAGCTTTGCATTCCTTTCCCCATTCGGCCTTCCCAAGCAGTCCTGCCTGTCCACTAGGATCGCCTTTCCAAGCAGTGGCAGATACATTAAGTTCCTTTCTGCAGGCAGCCCAAAGACCCCTCCCCTCTCTCATTGGTGAAGGTCCCAGTGAAGTGGGAAGGTCAGGGCCCTTCTAAGCAGCATGTGACCCAGGTGCCCCAAACCCACAGAGGAGAATGGTGACCCCGAGTCCGCGCACCTGAAGAAGGTGTACTGCTGCCCATATATCCAGGGGTGAAGGGTCAAAGCGGGGTATTCGCCAAAAGGAGGGATAACAATAGAAAGCATCAGAGCCAAAAACACAAAGGTAGCCGGGAGCACGATCTGTGGGAGAATAGACGTGGAATAAACATGACTGTGGCATGGAGATGTCACACGTGCGCGTGCACACACATCTTCATTCTTTTAAACATTTATCCTGCAGCCTCCTAATCAGCCCCTGGTGGAGAGGGTTGGGCTTCTGGGGGAACATAATAAGCAGGGTGTGCAAAGGTAAGATGTGCAGAAGAAAACAGAATGTTCTGGTGGCCACTGAAGAATCTGAATGCAGCCCAGTGTTCAGCCAGACTTCAAAGGGCATTTCAAAGAGCAAGTCACGTGACTCACTGTTCTTTAAACCAGAGCTTCTTTTTCTAAATTAAACAACATTAAAAGAAAAAAGAGGGCAATGATTTTGATATGTAGGGTCACTGCAAAAATGAATGAAAACATGACTTTATCCCTCACTGTAAAAATAAAAACAATATTAACATTTTCACTATTATTCTATTTTCTTTGCTAGGGGAGGTCCAACTTACAAAGAAGATTCATGTTACCAAGAATCAAGATAAGGGTTTGGAAAGCAGGAAACAAAACCAGCAGAATCTAAAGAGGGTGCTCCTTGCTGAGTTATAACCCATGCCTGAAGGAACACTCAGGAGAGGAGGGGAAGGCTGGGAGAGGAGCCACTGAGCTCAGCTAAACACCGACCGACAATAGTACCTGCGCCAGGAAGTCCTTGTGGCTGCGGATGGTGTGTTGGAATCTCTTGACCAGCAGCGCCTGCACATGCTGGAGGACCAGCTGTGTCCCCGTGTTGAGCTGCGGGCCTGGGCACTCTGGCTCTGGGGGAGGCTGGCCCTCTGGGTGAGCAGCCGGCGCCCCTGGGGAGCAGACATTGGAGTCCTGGGGTGTCTGTCCAGCCTTCTCTCTGGGACCCAAGCAGGGGTGTCGGGGGTTGACGTTTTCTCTTTTCTGCTGAGCGCCACCTGTTTTGAGAGATTGAATTAATAATTTGGAAAATGCCTATAAGGTCTGGATCTCTAATGCCATTTTTTTTTTCCCTTACAGCATTGATTTTCCTCTTCATTTAAGTCAGCAATGAAATACCAGGCTGGTAGCTTAATCATCTTTATAAAAATCTATTTCTAGTGTAAATTACTTATACAGAGAAATTGTATAGATTCACCTGAAATTGCCTTAAAATTCTCTATTAACATTAAAGAGAACAAAATAGCTCTAAAAGCATTGACATGGAGAAGTTTAAAATACGTAACTTGGTTAATAAAAAAACAAAACTGGCTGGGCACGGAGGCTCACGCCTGTCATCTCAGCACTTTGGGAGGCTGAGGTGGATGGATCATTTGAGGTCAGCAGTTTGAGACCAGCTTGACCTACATAGTGAAACCCCCTCTCTACAAAAATACAAAAATTAGCCAGGCATGGT
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Task1_train_1181
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Given a variant located on Chromosome 1 and affecting ABCA4 (ATP binding cassette subfamily A member 4), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Retinal dystrophy
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CAAAAGATGGATGCTGGCTGTGCATGTATTTGTGTACATACCTGCAGATGTTAGAGACACAGCACATGGAGAGCTTCTTAATTAAGACTGTTAATAAGTGTGTAAACACATTTCCATTTGAATGTACATCATAGCATTGCTTATAATGGTGAAAACTAAAAAACCTAAGTGGCGAATAATGGGAGATCAGTTAATTTAAAGTAACTTTAGGCCAGGAGCAGTGGCTGACGCTTGTAATCCTAGCACTCTGGTAGGCAGAAGTGGGTAGATCACTTGAGGCCAGGAGTTCAACACCAGCCTGGCCAACATGGTAAAACCCCATCTGTACTAAAACTACCAAAAAAATTAGGCGGGCATGATGGTGCATGCCTGTAATCCCCACTACTCGGGGGGGCTGAGGCACAAGAATTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCGCTGCACTCCAACCTGGGTGACAGAGAGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAATTCAAACAATGGGATAATATACAGATATTAAAAGTGATGCAGATGTCTATTTATTGACATGGATGCATGTTCCTAGTAAATTATGCAGTAAATCAGATTTTAAGACAATATTTGGAATATAATCTGTTTGGGTGGCTGCAAACCAAACATTATCTGTGTTTATATCCAAGCGATGATTTTTTTTCCTTCTGACTTACCTGTGTTTTCTAATTTTTCTATAATGAGCACATATGACTTAATTTTTTTTAGTGCTTAAACACATTTTTTCTACTAGATCAAATAGGAAGTATCTGGTGGAAAATGAAGCTTTTGGTGAGTGGCTTCCTCCAGTTGGCAGCCACAGCGCCCTGTGGGGAGCCCCTCCCAGAGGGTGCAGGGAGTTTGGTTTAGTCCCCTACTCAACTGCCAGTTTGAAATGTTAGTTTGTGAGAGACTCAGGAGATACCAGGGACTCCCCTAGTCCCTCTGTGGCAGGCAGACCTGGGGCCCCGTTGTTTGGAGGTCAGGTACCTGGGGGGGCGGGAGGCCCCCGGCACCCTCGGGGCACTCTGGCAGCATGGTGAGCTTCTCCCTGGTGCTGCACCTGCAGGATGGTGAAGGGTTGACCTGTGTCCATTTCTGCTTCTGGAACAGCTGGGTGATGTTTGGGGACACAGAAGGAGTCTTCCAGGGTGTTGAGTTGCCACAGGGGTACTCCCTCATGGAAGACAAGAAAATATTCCATAATCAGCCTCAAAGTTGCTGACAAATCCCTAGGCATAAGAAATTGTGCCCAACCCTTTCCTCCTCCTCTTTAGACCCAGGCCCTTTCTTCTTATTCTCTTGGAGGCTGGTTTCTGCTCAAGCAATATCAAAACTAGGGTTTTGTGACTGACTAGGTGTGGGGCTGGGGAATAACCATCTCTAGCTTGTGGATCGTTTTGTCTCCCTTTTTATTCCTAGCAGCTCTAGCTGTTGAGAGACACAGCAACCAGAAGAGGAATTTGAAATTAGTCTGTTTTGGTCCTTATTGACAGCTTTGAAAAAGACTGAGGGAGAAAAGTTAAAATTATATTGAACTTTTAGGATTCCTGGTGGATGTCAATGGCCTTCGCTAACTCCCTTCTCCAGACTCACAACTATCACAAAGTACTGGCCACTGTGTCACTCACGCCATTCAAGGCCCAATCACACAATAGCATAACCCTATTTCCCTCCCTCCCTGCTCAGAGGCCTTTCAAATAAGTTATGGGGAATCATCTGTCAACTCAACATAGAACTTCTATGCTGAGAAATATAGAGCTGTCCAGTGGTGTGGGGGCTTCCTAGGAGGTAGTGAATGTCCCTGCACACAAGTGTGGAAGGAGAGGTTGGGGGAGTGCTGGTCAGAGACATGGAAGTGACCAGCAGAGCAGGATTGAGTGGGGCCTCCCCAACGCCTGCCATCTTGAACCCACCGTTGGGTCCTCCCAGGGGAGCTAGTCTTCTTAGGACAGGGGCGCGTAGGCACTTACGGAAGCCACCCTTCCTTCAGGCAGCGGTTGCCAAAGCCTGGCTTATTCAGGAGGACGTCTGCAAGTACCGTGAACTGCTCACTGCCTGGTTCATCCATGCTAGACAGAGTGAGACATGTGACTGGGACAGAGCAGGCGCGTGCCAACATCATGCAACTCAGAGCCTTTACTGGATAGCTGCTGTGTGCCAGGTATGTATTGGAGGCACCGAATGCTGCCTTGGGATGGCGCTAGCTCTCCTGGGAGTGCGGTAGGCTGCCTGAACACTCGCAGTGGTCTGATGGCATGTCACCTATGCCTCAAAAAGATGGCGCTTCAACCCATTCACCTAAGCTTTGCATTCCTTTCCCCATTCGGCCTTCCCAAGCAGTCCTGCCTGTCCACTAGGATCGCCTTTCCAAGCAGTGGCAGATACATTAAGTTCCTTTCTGCAGGCAGCCCAAAGACCCCTCCCCTCTCTCATTGGTGAAGGTCCCAGTGAAGTGGGAAGGTCAGGGCCCTTCTAAGCAGCATGTGACCCAGGTGCCCCAAACCCACAGAGGAGAATGGTGACCCCGAGTCCGCGCACCTGAAGAAGGTGTACTGCTGCCCATATATCCAGGGGTGAAGGGTCAAAGCGGGGTATTCGCCAAAAGGAGGGATAACAATAGAAAGCATCAGAGCCAAAAACACAAAGGTAGCCGGGAGCACGATCTGTGGGAGAATAGACGTGGAATAAACATGACTGTGGCATGGAGATGTCACACGTGCGCGTGCACACACATCTTCATTCTTTTAAACATTTATCCTGCAGCCTCCTAATCAGCCCCTGGTGGAGAGGGTTGGGCTTCTGGGGGAACATAATAAGCAGGGTGTGCAAAGGTAAGATGTGCAGAAGAAAACAGAATGTTCTGGTGGCCACTGAAGAATCTGAATGCAGCCCAGTGTTCAGCCAGACTTCAAAGGGCATTTCAAAGAGCAAGTCACGTGACTCACTGTTCTTTAAACCAGAGCTTCTTTTTCTAAATTAAACAACATTAAAAGAAAAAAGAGGGCAATGATTTTGATATGTAGGGTCACTGCAAAAATGAATGAAAACATGACTTTATCCCTCACTGTAAAAATAAAAACAATATTAACATTTTCACTATTATTCTATTTTCTTTGCTAGGGGAGGTCCAACTTACAAAGAAGATTCATGTTACCAAGAATCAAGATAAGGGTTTGGAAAGCAGGAAACAAAACCAGCAGAATCTAAAGAGGGTGCTCCTTGCTGAGTTATAACCCATGCCTGAAGGAACACTCAGGAGAGGAGGGGAAGGCTGGGAGAGGAGCCACTGAGCTCAGCTAAACACCGACCGACAATAGTACCTGCGCCAGGAAGTCCTTGTGGCTGCGGATGGTGTGTTGGAATCTCTTGACCAGCAGCGCCTGCACATGCTGGAGGACCAGCTGTGTCCCCGTGTTGAGCTGCGGGCCTGGGCACTCTGGCTCTGGGGGAGGCTGGCCCTCTGGGTGAGCAGCCGGCGCCCCTGGGGAGCAGACATTGGAGTCCTGGGGTGTCTGTCCAGCCTTCTCTCTGGGACCCAAGCAGGGGTGTCGGGGGTTGACGTTTTCTCTTTTCTGCTGAGCGCCACCTGTTTTGAGAGATTGAATTAATAATTTGGAAAATGCCTATAAGGTCTGGATCTCTAATGCCATTTTTTTTTTCCCTTACAGCATTGATTTTCCTCTTCATTTAAGTCAGCAATGAAATACCAGGCTGGTAGCTTAATCATCTTTATAAAAATCTATTTCTAGTGTAAATTACTTATACAGAGAAATTGTATAGATTCACCTGAAATTGCCTTAAAATTCTCTATTAACATTAAAGAGAACAAAATAGCTCTAAAAGCATTGACATGGAGAAGTTTAAAATACGTAACTTGGTTAATAAAAAAACAAAACTGGCTGGGCACGGAGGCTCACGCCTGTCATCTCAGCACTTTGGGAGGCTGAGGTGGATGGATCATTTGAGGTCAGCAGTTTGAGACCAGCTTGACCTACATAGTGAAACCCCCTCTCTACAAAAATACAAAAATTAGCCAGGCATGGTGGCAGGCACC
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CAAAAGATGGATGCTGGCTGTGCATGTATTTGTGTACATACCTGCAGATGTTAGAGACACAGCACATGGAGAGCTTCTTAATTAAGACTGTTAATAAGTGTGTAAACACATTTCCATTTGAATGTACATCATAGCATTGCTTATAATGGTGAAAACTAAAAAACCTAAGTGGCGAATAATGGGAGATCAGTTAATTTAAAGTAACTTTAGGCCAGGAGCAGTGGCTGACGCTTGTAATCCTAGCACTCTGGTAGGCAGAAGTGGGTAGATCACTTGAGGCCAGGAGTTCAACACCAGCCTGGCCAACATGGTAAAACCCCATCTGTACTAAAACTACCAAAAAAATTAGGCGGGCATGATGGTGCATGCCTGTAATCCCCACTACTCGGGGGGGCTGAGGCACAAGAATTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCGCTGCACTCCAACCTGGGTGACAGAGAGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAATTCAAACAATGGGATAATATACAGATATTAAAAGTGATGCAGATGTCTATTTATTGACATGGATGCATGTTCCTAGTAAATTATGCAGTAAATCAGATTTTAAGACAATATTTGGAATATAATCTGTTTGGGTGGCTGCAAACCAAACATTATCTGTGTTTATATCCAAGCGATGATTTTTTTTCCTTCTGACTTACCTGTGTTTTCTAATTTTTCTATAATGAGCACATATGACTTAATTTTTTTTAGTGCTTAAACACATTTTTTCTACTAGATCAAATAGGAAGTATCTGGTGGAAAATGAAGCTTTTGGTGAGTGGCTTCCTCCAGTTGGCAGCCACAGCGCCCTGTGGGGAGCCCCTCCCAGAGGGTGCAGGGAGTTTGGTTTAGTCCCCTACTCAACTGCCAGTTTGAAATGTTAGTTTGTGAGAGACTCAGGAGATACCAGGGACTCCCCTAGTCCCTCTGTGGCAGGCAGACCTGGGGCCCCGTTGTTTGGAGGTCAGGTACCTGGGGGGGCGGGAGGCCCCCGGCACCCTCGGGGCACTCTGGCAGCATGGTGAGCTTCTCCCTGGTGCTGCACCTGCAGGATGGTGAAGGGTTGACCTGTGTCCATTTCTGCTTCTGGAACAGCTGGGTGATGTTTGGGGACACAGAAGGAGTCTTCCAGGGTGTTGAGTTGCCACAGGGGTACTCCCTCATGGAAGACAAGAAAATATTCCATAATCAGCCTCAAAGTTGCTGACAAATCCCTAGGCATAAGAAATTGTGCCCAACCCTTTCCTCCTCCTCTTTAGACCCAGGCCCTTTCTTCTTATTCTCTTGGAGGCTGGTTTCTGCTCAAGCAATATCAAAACTAGGGTTTTGTGACTGACTAGGTGTGGGGCTGGGGAATAACCATCTCTAGCTTGTGGATCGTTTTGTCTCCCTTTTTATTCCTAGCAGCTCTAGCTGTTGAGAGACACAGCAACCAGAAGAGGAATTTGAAATTAGTCTGTTTTGGTCCTTATTGACAGCTTTGAAAAAGACTGAGGGAGAAAAGTTAAAATTATATTGAACTTTTAGGATTCCTGGTGGATGTCAATGGCCTTCGCTAACTCCCTTCTCCAGACTCACAACTATCACAAAGTACTGGCCACTGTGTCACTCACGCCATTCAAGGCCCAATCACACAATAGCATAACCCTATTTCCCTCCCTCCCTGCTCAGAGGCCTTTCAAATAAGTTATGGGGAATCATCTGTCAACTCAACATAGAACTTCTATGCTGAGAAATATAGAGCTGTCCAGTGGTGTGGGGGCTTCCTAGGAGGTAGTGAATGTCCCTGCACACAAGTGTGGAAGGAGAGGTTGGGGGAGTGCTGGTCAGAGACATGGAAGTGACCAGCAGAGCAGGATTGAGTGGGGCCTCCCCAACGCCTGCCATCTTGAACCCACCGTTGGGTCCTCCCAGGGGAGCTAGTCTTCTTAGGACAGGGGCGCGTAGGCACTTACGGAAGCCACCCTTCCTTCAGGCAGCGGTTGCCAAAGTCTGGCTTATTCAGGAGGACGTCTGCAAGTACCGTGAACTGCTCACTGCCTGGTTCATCCATGCTAGACAGAGTGAGACATGTGACTGGGACAGAGCAGGCGCGTGCCAACATCATGCAACTCAGAGCCTTTACTGGATAGCTGCTGTGTGCCAGGTATGTATTGGAGGCACCGAATGCTGCCTTGGGATGGCGCTAGCTCTCCTGGGAGTGCGGTAGGCTGCCTGAACACTCGCAGTGGTCTGATGGCATGTCACCTATGCCTCAAAAAGATGGCGCTTCAACCCATTCACCTAAGCTTTGCATTCCTTTCCCCATTCGGCCTTCCCAAGCAGTCCTGCCTGTCCACTAGGATCGCCTTTCCAAGCAGTGGCAGATACATTAAGTTCCTTTCTGCAGGCAGCCCAAAGACCCCTCCCCTCTCTCATTGGTGAAGGTCCCAGTGAAGTGGGAAGGTCAGGGCCCTTCTAAGCAGCATGTGACCCAGGTGCCCCAAACCCACAGAGGAGAATGGTGACCCCGAGTCCGCGCACCTGAAGAAGGTGTACTGCTGCCCATATATCCAGGGGTGAAGGGTCAAAGCGGGGTATTCGCCAAAAGGAGGGATAACAATAGAAAGCATCAGAGCCAAAAACACAAAGGTAGCCGGGAGCACGATCTGTGGGAGAATAGACGTGGAATAAACATGACTGTGGCATGGAGATGTCACACGTGCGCGTGCACACACATCTTCATTCTTTTAAACATTTATCCTGCAGCCTCCTAATCAGCCCCTGGTGGAGAGGGTTGGGCTTCTGGGGGAACATAATAAGCAGGGTGTGCAAAGGTAAGATGTGCAGAAGAAAACAGAATGTTCTGGTGGCCACTGAAGAATCTGAATGCAGCCCAGTGTTCAGCCAGACTTCAAAGGGCATTTCAAAGAGCAAGTCACGTGACTCACTGTTCTTTAAACCAGAGCTTCTTTTTCTAAATTAAACAACATTAAAAGAAAAAAGAGGGCAATGATTTTGATATGTAGGGTCACTGCAAAAATGAATGAAAACATGACTTTATCCCTCACTGTAAAAATAAAAACAATATTAACATTTTCACTATTATTCTATTTTCTTTGCTAGGGGAGGTCCAACTTACAAAGAAGATTCATGTTACCAAGAATCAAGATAAGGGTTTGGAAAGCAGGAAACAAAACCAGCAGAATCTAAAGAGGGTGCTCCTTGCTGAGTTATAACCCATGCCTGAAGGAACACTCAGGAGAGGAGGGGAAGGCTGGGAGAGGAGCCACTGAGCTCAGCTAAACACCGACCGACAATAGTACCTGCGCCAGGAAGTCCTTGTGGCTGCGGATGGTGTGTTGGAATCTCTTGACCAGCAGCGCCTGCACATGCTGGAGGACCAGCTGTGTCCCCGTGTTGAGCTGCGGGCCTGGGCACTCTGGCTCTGGGGGAGGCTGGCCCTCTGGGTGAGCAGCCGGCGCCCCTGGGGAGCAGACATTGGAGTCCTGGGGTGTCTGTCCAGCCTTCTCTCTGGGACCCAAGCAGGGGTGTCGGGGGTTGACGTTTTCTCTTTTCTGCTGAGCGCCACCTGTTTTGAGAGATTGAATTAATAATTTGGAAAATGCCTATAAGGTCTGGATCTCTAATGCCATTTTTTTTTTCCCTTACAGCATTGATTTTCCTCTTCATTTAAGTCAGCAATGAAATACCAGGCTGGTAGCTTAATCATCTTTATAAAAATCTATTTCTAGTGTAAATTACTTATACAGAGAAATTGTATAGATTCACCTGAAATTGCCTTAAAATTCTCTATTAACATTAAAGAGAACAAAATAGCTCTAAAAGCATTGACATGGAGAAGTTTAAAATACGTAACTTGGTTAATAAAAAAACAAAACTGGCTGGGCACGGAGGCTCACGCCTGTCATCTCAGCACTTTGGGAGGCTGAGGTGGATGGATCATTTGAGGTCAGCAGTTTGAGACCAGCTTGACCTACATAGTGAAACCCCCTCTCTACAAAAATACAAAAATTAGCCAGGCATGGTGGCAGGCACC
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Task1_train_1182
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Here is a variant affecting ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; not provided
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TGTCTATTTATTGACATGGATGCATGTTCCTAGTAAATTATGCAGTAAATCAGATTTTAAGACAATATTTGGAATATAATCTGTTTGGGTGGCTGCAAACCAAACATTATCTGTGTTTATATCCAAGCGATGATTTTTTTTCCTTCTGACTTACCTGTGTTTTCTAATTTTTCTATAATGAGCACATATGACTTAATTTTTTTTAGTGCTTAAACACATTTTTTCTACTAGATCAAATAGGAAGTATCTGGTGGAAAATGAAGCTTTTGGTGAGTGGCTTCCTCCAGTTGGCAGCCACAGCGCCCTGTGGGGAGCCCCTCCCAGAGGGTGCAGGGAGTTTGGTTTAGTCCCCTACTCAACTGCCAGTTTGAAATGTTAGTTTGTGAGAGACTCAGGAGATACCAGGGACTCCCCTAGTCCCTCTGTGGCAGGCAGACCTGGGGCCCCGTTGTTTGGAGGTCAGGTACCTGGGGGGGCGGGAGGCCCCCGGCACCCTCGGGGCACTCTGGCAGCATGGTGAGCTTCTCCCTGGTGCTGCACCTGCAGGATGGTGAAGGGTTGACCTGTGTCCATTTCTGCTTCTGGAACAGCTGGGTGATGTTTGGGGACACAGAAGGAGTCTTCCAGGGTGTTGAGTTGCCACAGGGGTACTCCCTCATGGAAGACAAGAAAATATTCCATAATCAGCCTCAAAGTTGCTGACAAATCCCTAGGCATAAGAAATTGTGCCCAACCCTTTCCTCCTCCTCTTTAGACCCAGGCCCTTTCTTCTTATTCTCTTGGAGGCTGGTTTCTGCTCAAGCAATATCAAAACTAGGGTTTTGTGACTGACTAGGTGTGGGGCTGGGGAATAACCATCTCTAGCTTGTGGATCGTTTTGTCTCCCTTTTTATTCCTAGCAGCTCTAGCTGTTGAGAGACACAGCAACCAGAAGAGGAATTTGAAATTAGTCTGTTTTGGTCCTTATTGACAGCTTTGAAAAAGACTGAGGGAGAAAAGTTAAAATTATATTGAACTTTTAGGATTCCTGGTGGATGTCAATGGCCTTCGCTAACTCCCTTCTCCAGACTCACAACTATCACAAAGTACTGGCCACTGTGTCACTCACGCCATTCAAGGCCCAATCACACAATAGCATAACCCTATTTCCCTCCCTCCCTGCTCAGAGGCCTTTCAAATAAGTTATGGGGAATCATCTGTCAACTCAACATAGAACTTCTATGCTGAGAAATATAGAGCTGTCCAGTGGTGTGGGGGCTTCCTAGGAGGTAGTGAATGTCCCTGCACACAAGTGTGGAAGGAGAGGTTGGGGGAGTGCTGGTCAGAGACATGGAAGTGACCAGCAGAGCAGGATTGAGTGGGGCCTCCCCAACGCCTGCCATCTTGAACCCACCGTTGGGTCCTCCCAGGGGAGCTAGTCTTCTTAGGACAGGGGCGCGTAGGCACTTACGGAAGCCACCCTTCCTTCAGGCAGCGGTTGCCAAAGCCTGGCTTATTCAGGAGGACGTCTGCAAGTACCGTGAACTGCTCACTGCCTGGTTCATCCATGCTAGACAGAGTGAGACATGTGACTGGGACAGAGCAGGCGCGTGCCAACATCATGCAACTCAGAGCCTTTACTGGATAGCTGCTGTGTGCCAGGTATGTATTGGAGGCACCGAATGCTGCCTTGGGATGGCGCTAGCTCTCCTGGGAGTGCGGTAGGCTGCCTGAACACTCGCAGTGGTCTGATGGCATGTCACCTATGCCTCAAAAAGATGGCGCTTCAACCCATTCACCTAAGCTTTGCATTCCTTTCCCCATTCGGCCTTCCCAAGCAGTCCTGCCTGTCCACTAGGATCGCCTTTCCAAGCAGTGGCAGATACATTAAGTTCCTTTCTGCAGGCAGCCCAAAGACCCCTCCCCTCTCTCATTGGTGAAGGTCCCAGTGAAGTGGGAAGGTCAGGGCCCTTCTAAGCAGCATGTGACCCAGGTGCCCCAAACCCACAGAGGAGAATGGTGACCCCGAGTCCGCGCACCTGAAGAAGGTGTACTGCTGCCCATATATCCAGGGGTGAAGGGTCAAAGCGGGGTATTCGCCAAAAGGAGGGATAACAATAGAAAGCATCAGAGCCAAAAACACAAAGGTAGCCGGGAGCACGATCTGTGGGAGAATAGACGTGGAATAAACATGACTGTGGCATGGAGATGTCACACGTGCGCGTGCACACACATCTTCATTCTTTTAAACATTTATCCTGCAGCCTCCTAATCAGCCCCTGGTGGAGAGGGTTGGGCTTCTGGGGGAACATAATAAGCAGGGTGTGCAAAGGTAAGATGTGCAGAAGAAAACAGAATGTTCTGGTGGCCACTGAAGAATCTGAATGCAGCCCAGTGTTCAGCCAGACTTCAAAGGGCATTTCAAAGAGCAAGTCACGTGACTCACTGTTCTTTAAACCAGAGCTTCTTTTTCTAAATTAAACAACATTAAAAGAAAAAAGAGGGCAATGATTTTGATATGTAGGGTCACTGCAAAAATGAATGAAAACATGACTTTATCCCTCACTGTAAAAATAAAAACAATATTAACATTTTCACTATTATTCTATTTTCTTTGCTAGGGGAGGTCCAACTTACAAAGAAGATTCATGTTACCAAGAATCAAGATAAGGGTTTGGAAAGCAGGAAACAAAACCAGCAGAATCTAAAGAGGGTGCTCCTTGCTGAGTTATAACCCATGCCTGAAGGAACACTCAGGAGAGGAGGGGAAGGCTGGGAGAGGAGCCACTGAGCTCAGCTAAACACCGACCGACAATAGTACCTGCGCCAGGAAGTCCTTGTGGCTGCGGATGGTGTGTTGGAATCTCTTGACCAGCAGCGCCTGCACATGCTGGAGGACCAGCTGTGTCCCCGTGTTGAGCTGCGGGCCTGGGCACTCTGGCTCTGGGGGAGGCTGGCCCTCTGGGTGAGCAGCCGGCGCCCCTGGGGAGCAGACATTGGAGTCCTGGGGTGTCTGTCCAGCCTTCTCTCTGGGACCCAAGCAGGGGTGTCGGGGGTTGACGTTTTCTCTTTTCTGCTGAGCGCCACCTGTTTTGAGAGATTGAATTAATAATTTGGAAAATGCCTATAAGGTCTGGATCTCTAATGCCATTTTTTTTTTCCCTTACAGCATTGATTTTCCTCTTCATTTAAGTCAGCAATGAAATACCAGGCTGGTAGCTTAATCATCTTTATAAAAATCTATTTCTAGTGTAAATTACTTATACAGAGAAATTGTATAGATTCACCTGAAATTGCCTTAAAATTCTCTATTAACATTAAAGAGAACAAAATAGCTCTAAAAGCATTGACATGGAGAAGTTTAAAATACGTAACTTGGTTAATAAAAAAACAAAACTGGCTGGGCACGGAGGCTCACGCCTGTCATCTCAGCACTTTGGGAGGCTGAGGTGGATGGATCATTTGAGGTCAGCAGTTTGAGACCAGCTTGACCTACATAGTGAAACCCCCTCTCTACAAAAATACAAAAATTAGCCAGGCATGGTGGCAGGCACCTGTAATCCCAACTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCGTAAGCCGAGATTGCAAGACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCTTCTCAAACAGCACAAAGAAAACCAAACAAACAAACAAAAAAACTAAGGTGCTGGTCAATATGTGTAATACACTCACATTTATGTTTAAAATTCATGTTCATGTATCCTACACAAAGAAAAACTGACATCTTATGTACACACACACACATAATTGTAAAACTCTGAAAGAATGTCCACCGACTGTCAGCAGAAGCTCTCCCTGGGGAGGCAGAGTTGGGTAGAAAGGGGAGAGGAAGTGGGAAGCGAGACTTTAGCCTTTTGTGTATTATATGAATTTTTAAACAACAAAATACATTCACCTATTACCTGTGTACTTAAACAAATGAAAAATCAGAGTCGATGTGGTTCTTTCTGAATTCTTAGAGGATACTGAGAAGTGGTAGAAAAAGTAATGAACTAAGAGTTAGGGGACTGAGGTTTGAATATGGATTCTTACAAGATAC
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TGTCTATTTATTGACATGGATGCATGTTCCTAGTAAATTATGCAGTAAATCAGATTTTAAGACAATATTTGGAATATAATCTGTTTGGGTGGCTGCAAACCAAACATTATCTGTGTTTATATCCAAGCGATGATTTTTTTTCCTTCTGACTTACCTGTGTTTTCTAATTTTTCTATAATGAGCACATATGACTTAATTTTTTTTAGTGCTTAAACACATTTTTTCTACTAGATCAAATAGGAAGTATCTGGTGGAAAATGAAGCTTTTGGTGAGTGGCTTCCTCCAGTTGGCAGCCACAGCGCCCTGTGGGGAGCCCCTCCCAGAGGGTGCAGGGAGTTTGGTTTAGTCCCCTACTCAACTGCCAGTTTGAAATGTTAGTTTGTGAGAGACTCAGGAGATACCAGGGACTCCCCTAGTCCCTCTGTGGCAGGCAGACCTGGGGCCCCGTTGTTTGGAGGTCAGGTACCTGGGGGGGCGGGAGGCCCCCGGCACCCTCGGGGCACTCTGGCAGCATGGTGAGCTTCTCCCTGGTGCTGCACCTGCAGGATGGTGAAGGGTTGACCTGTGTCCATTTCTGCTTCTGGAACAGCTGGGTGATGTTTGGGGACACAGAAGGAGTCTTCCAGGGTGTTGAGTTGCCACAGGGGTACTCCCTCATGGAAGACAAGAAAATATTCCATAATCAGCCTCAAAGTTGCTGACAAATCCCTAGGCATAAGAAATTGTGCCCAACCCTTTCCTCCTCCTCTTTAGACCCAGGCCCTTTCTTCTTATTCTCTTGGAGGCTGGTTTCTGCTCAAGCAATATCAAAACTAGGGTTTTGTGACTGACTAGGTGTGGGGCTGGGGAATAACCATCTCTAGCTTGTGGATCGTTTTGTCTCCCTTTTTATTCCTAGCAGCTCTAGCTGTTGAGAGACACAGCAACCAGAAGAGGAATTTGAAATTAGTCTGTTTTGGTCCTTATTGACAGCTTTGAAAAAGACTGAGGGAGAAAAGTTAAAATTATATTGAACTTTTAGGATTCCTGGTGGATGTCAATGGCCTTCGCTAACTCCCTTCTCCAGACTCACAACTATCACAAAGTACTGGCCACTGTGTCACTCACGCCATTCAAGGCCCAATCACACAATAGCATAACCCTATTTCCCTCCCTCCCTGCTCAGAGGCCTTTCAAATAAGTTATGGGGAATCATCTGTCAACTCAACATAGAACTTCTATGCTGAGAAATATAGAGCTGTCCAGTGGTGTGGGGGCTTCCTAGGAGGTAGTGAATGTCCCTGCACACAAGTGTGGAAGGAGAGGTTGGGGGAGTGCTGGTCAGAGACATGGAAGTGACCAGCAGAGCAGGATTGAGTGGGGCCTCCCCAACGCCTGCCATCTTGAACCCACCGTTGGGTCCTCCCAGGGGAGCTAGTCTTCTTAGGACAGGGGCGCGTAGGCACTTACGGAAGCCACCCTTCCTTCAGGCAGCGGTTGCCAAAGCCTGGCTTATTCAGGAGGACGTCTGCAAGTACCGTGAACTGCTCACTGCCTGGTTCATCCATGCTAGACAGAGTGAGACATGTGACTGGGACAGAGCAGGCGCGTGCCAACATCATGCAACTCAGAGCCTTTACTGGATAGCTGCTGTGTGCCAGGTATGTATTGGAGGCACCGAATGCTGCCTTGGGATGGCGCTAGCTCTCCTGGGAGTGCGGTAGGCTGCCTGAACACTCGCAGTGGTCTGATGGCATGTCACCTATGCCTCAAAAAGATGGCGCTTCAACCCATTCACCTAAGCTTTGCATTCCTTTCCCCATTCGGCCTTCCCAAGCAGTCCTGCCTGTCCACTAGGATCGCCTTTCCAAGCAGTGGCAGATACATTAAGTTCCTTTCTGCAGGCAGCCCAAAGACCCCTCCCCTCTCTCATTGGTGAAGGTCCCAGTGAAGTGGGAAGGTCAGGGCCCTTCTAAGCAGCATGTGACCCAGGTGCCCCAAACCCACAGAGGAGAATGGTGACCCCGAGTCCGCGCACCTGAAGAAGGTGTACTGCTGCCCATATATCAAGGGGTGAAGGGTCAAAGCGGGGTATTCGCCAAAAGGAGGGATAACAATAGAAAGCATCAGAGCCAAAAACACAAAGGTAGCCGGGAGCACGATCTGTGGGAGAATAGACGTGGAATAAACATGACTGTGGCATGGAGATGTCACACGTGCGCGTGCACACACATCTTCATTCTTTTAAACATTTATCCTGCAGCCTCCTAATCAGCCCCTGGTGGAGAGGGTTGGGCTTCTGGGGGAACATAATAAGCAGGGTGTGCAAAGGTAAGATGTGCAGAAGAAAACAGAATGTTCTGGTGGCCACTGAAGAATCTGAATGCAGCCCAGTGTTCAGCCAGACTTCAAAGGGCATTTCAAAGAGCAAGTCACGTGACTCACTGTTCTTTAAACCAGAGCTTCTTTTTCTAAATTAAACAACATTAAAAGAAAAAAGAGGGCAATGATTTTGATATGTAGGGTCACTGCAAAAATGAATGAAAACATGACTTTATCCCTCACTGTAAAAATAAAAACAATATTAACATTTTCACTATTATTCTATTTTCTTTGCTAGGGGAGGTCCAACTTACAAAGAAGATTCATGTTACCAAGAATCAAGATAAGGGTTTGGAAAGCAGGAAACAAAACCAGCAGAATCTAAAGAGGGTGCTCCTTGCTGAGTTATAACCCATGCCTGAAGGAACACTCAGGAGAGGAGGGGAAGGCTGGGAGAGGAGCCACTGAGCTCAGCTAAACACCGACCGACAATAGTACCTGCGCCAGGAAGTCCTTGTGGCTGCGGATGGTGTGTTGGAATCTCTTGACCAGCAGCGCCTGCACATGCTGGAGGACCAGCTGTGTCCCCGTGTTGAGCTGCGGGCCTGGGCACTCTGGCTCTGGGGGAGGCTGGCCCTCTGGGTGAGCAGCCGGCGCCCCTGGGGAGCAGACATTGGAGTCCTGGGGTGTCTGTCCAGCCTTCTCTCTGGGACCCAAGCAGGGGTGTCGGGGGTTGACGTTTTCTCTTTTCTGCTGAGCGCCACCTGTTTTGAGAGATTGAATTAATAATTTGGAAAATGCCTATAAGGTCTGGATCTCTAATGCCATTTTTTTTTTCCCTTACAGCATTGATTTTCCTCTTCATTTAAGTCAGCAATGAAATACCAGGCTGGTAGCTTAATCATCTTTATAAAAATCTATTTCTAGTGTAAATTACTTATACAGAGAAATTGTATAGATTCACCTGAAATTGCCTTAAAATTCTCTATTAACATTAAAGAGAACAAAATAGCTCTAAAAGCATTGACATGGAGAAGTTTAAAATACGTAACTTGGTTAATAAAAAAACAAAACTGGCTGGGCACGGAGGCTCACGCCTGTCATCTCAGCACTTTGGGAGGCTGAGGTGGATGGATCATTTGAGGTCAGCAGTTTGAGACCAGCTTGACCTACATAGTGAAACCCCCTCTCTACAAAAATACAAAAATTAGCCAGGCATGGTGGCAGGCACCTGTAATCCCAACTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCGTAAGCCGAGATTGCAAGACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCTTCTCAAACAGCACAAAGAAAACCAAACAAACAAACAAAAAAACTAAGGTGCTGGTCAATATGTGTAATACACTCACATTTATGTTTAAAATTCATGTTCATGTATCCTACACAAAGAAAAACTGACATCTTATGTACACACACACACATAATTGTAAAACTCTGAAAGAATGTCCACCGACTGTCAGCAGAAGCTCTCCCTGGGGAGGCAGAGTTGGGTAGAAAGGGGAGAGGAAGTGGGAAGCGAGACTTTAGCCTTTTGTGTATTATATGAATTTTTAAACAACAAAATACATTCACCTATTACCTGTGTACTTAAACAAATGAAAAATCAGAGTCGATGTGGTTCTTTCTGAATTCTTAGAGGATACTGAGAAGTGGTAGAAAAAGTAATGAACTAAGAGTTAGGGGACTGAGGTTTGAATATGGATTCTTACAAGATAC
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Task1_train_1183
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This variant affects gene ABCA4 (ATP binding cassette subfamily A member 4) located on Chromosome 1. Evaluate its biological effect and specify any disease association.
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Pathogenic; Severe early-childhood-onset retinal dystrophy
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TTTATTGACATGGATGCATGTTCCTAGTAAATTATGCAGTAAATCAGATTTTAAGACAATATTTGGAATATAATCTGTTTGGGTGGCTGCAAACCAAACATTATCTGTGTTTATATCCAAGCGATGATTTTTTTTCCTTCTGACTTACCTGTGTTTTCTAATTTTTCTATAATGAGCACATATGACTTAATTTTTTTTAGTGCTTAAACACATTTTTTCTACTAGATCAAATAGGAAGTATCTGGTGGAAAATGAAGCTTTTGGTGAGTGGCTTCCTCCAGTTGGCAGCCACAGCGCCCTGTGGGGAGCCCCTCCCAGAGGGTGCAGGGAGTTTGGTTTAGTCCCCTACTCAACTGCCAGTTTGAAATGTTAGTTTGTGAGAGACTCAGGAGATACCAGGGACTCCCCTAGTCCCTCTGTGGCAGGCAGACCTGGGGCCCCGTTGTTTGGAGGTCAGGTACCTGGGGGGGCGGGAGGCCCCCGGCACCCTCGGGGCACTCTGGCAGCATGGTGAGCTTCTCCCTGGTGCTGCACCTGCAGGATGGTGAAGGGTTGACCTGTGTCCATTTCTGCTTCTGGAACAGCTGGGTGATGTTTGGGGACACAGAAGGAGTCTTCCAGGGTGTTGAGTTGCCACAGGGGTACTCCCTCATGGAAGACAAGAAAATATTCCATAATCAGCCTCAAAGTTGCTGACAAATCCCTAGGCATAAGAAATTGTGCCCAACCCTTTCCTCCTCCTCTTTAGACCCAGGCCCTTTCTTCTTATTCTCTTGGAGGCTGGTTTCTGCTCAAGCAATATCAAAACTAGGGTTTTGTGACTGACTAGGTGTGGGGCTGGGGAATAACCATCTCTAGCTTGTGGATCGTTTTGTCTCCCTTTTTATTCCTAGCAGCTCTAGCTGTTGAGAGACACAGCAACCAGAAGAGGAATTTGAAATTAGTCTGTTTTGGTCCTTATTGACAGCTTTGAAAAAGACTGAGGGAGAAAAGTTAAAATTATATTGAACTTTTAGGATTCCTGGTGGATGTCAATGGCCTTCGCTAACTCCCTTCTCCAGACTCACAACTATCACAAAGTACTGGCCACTGTGTCACTCACGCCATTCAAGGCCCAATCACACAATAGCATAACCCTATTTCCCTCCCTCCCTGCTCAGAGGCCTTTCAAATAAGTTATGGGGAATCATCTGTCAACTCAACATAGAACTTCTATGCTGAGAAATATAGAGCTGTCCAGTGGTGTGGGGGCTTCCTAGGAGGTAGTGAATGTCCCTGCACACAAGTGTGGAAGGAGAGGTTGGGGGAGTGCTGGTCAGAGACATGGAAGTGACCAGCAGAGCAGGATTGAGTGGGGCCTCCCCAACGCCTGCCATCTTGAACCCACCGTTGGGTCCTCCCAGGGGAGCTAGTCTTCTTAGGACAGGGGCGCGTAGGCACTTACGGAAGCCACCCTTCCTTCAGGCAGCGGTTGCCAAAGCCTGGCTTATTCAGGAGGACGTCTGCAAGTACCGTGAACTGCTCACTGCCTGGTTCATCCATGCTAGACAGAGTGAGACATGTGACTGGGACAGAGCAGGCGCGTGCCAACATCATGCAACTCAGAGCCTTTACTGGATAGCTGCTGTGTGCCAGGTATGTATTGGAGGCACCGAATGCTGCCTTGGGATGGCGCTAGCTCTCCTGGGAGTGCGGTAGGCTGCCTGAACACTCGCAGTGGTCTGATGGCATGTCACCTATGCCTCAAAAAGATGGCGCTTCAACCCATTCACCTAAGCTTTGCATTCCTTTCCCCATTCGGCCTTCCCAAGCAGTCCTGCCTGTCCACTAGGATCGCCTTTCCAAGCAGTGGCAGATACATTAAGTTCCTTTCTGCAGGCAGCCCAAAGACCCCTCCCCTCTCTCATTGGTGAAGGTCCCAGTGAAGTGGGAAGGTCAGGGCCCTTCTAAGCAGCATGTGACCCAGGTGCCCCAAACCCACAGAGGAGAATGGTGACCCCGAGTCCGCGCACCTGAAGAAGGTGTACTGCTGCCCATATATCCAGGGGTGAAGGGTCAAAGCGGGGTATTCGCCAAAAGGAGGGATAACAATAGAAAGCATCAGAGCCAAAAACACAAAGGTAGCCGGGAGCACGATCTGTGGGAGAATAGACGTGGAATAAACATGACTGTGGCATGGAGATGTCACACGTGCGCGTGCACACACATCTTCATTCTTTTAAACATTTATCCTGCAGCCTCCTAATCAGCCCCTGGTGGAGAGGGTTGGGCTTCTGGGGGAACATAATAAGCAGGGTGTGCAAAGGTAAGATGTGCAGAAGAAAACAGAATGTTCTGGTGGCCACTGAAGAATCTGAATGCAGCCCAGTGTTCAGCCAGACTTCAAAGGGCATTTCAAAGAGCAAGTCACGTGACTCACTGTTCTTTAAACCAGAGCTTCTTTTTCTAAATTAAACAACATTAAAAGAAAAAAGAGGGCAATGATTTTGATATGTAGGGTCACTGCAAAAATGAATGAAAACATGACTTTATCCCTCACTGTAAAAATAAAAACAATATTAACATTTTCACTATTATTCTATTTTCTTTGCTAGGGGAGGTCCAACTTACAAAGAAGATTCATGTTACCAAGAATCAAGATAAGGGTTTGGAAAGCAGGAAACAAAACCAGCAGAATCTAAAGAGGGTGCTCCTTGCTGAGTTATAACCCATGCCTGAAGGAACACTCAGGAGAGGAGGGGAAGGCTGGGAGAGGAGCCACTGAGCTCAGCTAAACACCGACCGACAATAGTACCTGCGCCAGGAAGTCCTTGTGGCTGCGGATGGTGTGTTGGAATCTCTTGACCAGCAGCGCCTGCACATGCTGGAGGACCAGCTGTGTCCCCGTGTTGAGCTGCGGGCCTGGGCACTCTGGCTCTGGGGGAGGCTGGCCCTCTGGGTGAGCAGCCGGCGCCCCTGGGGAGCAGACATTGGAGTCCTGGGGTGTCTGTCCAGCCTTCTCTCTGGGACCCAAGCAGGGGTGTCGGGGGTTGACGTTTTCTCTTTTCTGCTGAGCGCCACCTGTTTTGAGAGATTGAATTAATAATTTGGAAAATGCCTATAAGGTCTGGATCTCTAATGCCATTTTTTTTTTCCCTTACAGCATTGATTTTCCTCTTCATTTAAGTCAGCAATGAAATACCAGGCTGGTAGCTTAATCATCTTTATAAAAATCTATTTCTAGTGTAAATTACTTATACAGAGAAATTGTATAGATTCACCTGAAATTGCCTTAAAATTCTCTATTAACATTAAAGAGAACAAAATAGCTCTAAAAGCATTGACATGGAGAAGTTTAAAATACGTAACTTGGTTAATAAAAAAACAAAACTGGCTGGGCACGGAGGCTCACGCCTGTCATCTCAGCACTTTGGGAGGCTGAGGTGGATGGATCATTTGAGGTCAGCAGTTTGAGACCAGCTTGACCTACATAGTGAAACCCCCTCTCTACAAAAATACAAAAATTAGCCAGGCATGGTGGCAGGCACCTGTAATCCCAACTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCGTAAGCCGAGATTGCAAGACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCTTCTCAAACAGCACAAAGAAAACCAAACAAACAAACAAAAAAACTAAGGTGCTGGTCAATATGTGTAATACACTCACATTTATGTTTAAAATTCATGTTCATGTATCCTACACAAAGAAAAACTGACATCTTATGTACACACACACACATAATTGTAAAACTCTGAAAGAATGTCCACCGACTGTCAGCAGAAGCTCTCCCTGGGGAGGCAGAGTTGGGTAGAAAGGGGAGAGGAAGTGGGAAGCGAGACTTTAGCCTTTTGTGTATTATATGAATTTTTAAACAACAAAATACATTCACCTATTACCTGTGTACTTAAACAAATGAAAAATCAGAGTCGATGTGGTTCTTTCTGAATTCTTAGAGGATACTGAGAAGTGGTAGAAAAAGTAATGAACTAAGAGTTAGGGGACTGAGGTTTGAATATGGATTCTTACAAGATACATAAAT
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TTTATTGACATGGATGCATGTTCCTAGTAAATTATGCAGTAAATCAGATTTTAAGACAATATTTGGAATATAATCTGTTTGGGTGGCTGCAAACCAAACATTATCTGTGTTTATATCCAAGCGATGATTTTTTTTCCTTCTGACTTACCTGTGTTTTCTAATTTTTCTATAATGAGCACATATGACTTAATTTTTTTTAGTGCTTAAACACATTTTTTCTACTAGATCAAATAGGAAGTATCTGGTGGAAAATGAAGCTTTTGGTGAGTGGCTTCCTCCAGTTGGCAGCCACAGCGCCCTGTGGGGAGCCCCTCCCAGAGGGTGCAGGGAGTTTGGTTTAGTCCCCTACTCAACTGCCAGTTTGAAATGTTAGTTTGTGAGAGACTCAGGAGATACCAGGGACTCCCCTAGTCCCTCTGTGGCAGGCAGACCTGGGGCCCCGTTGTTTGGAGGTCAGGTACCTGGGGGGGCGGGAGGCCCCCGGCACCCTCGGGGCACTCTGGCAGCATGGTGAGCTTCTCCCTGGTGCTGCACCTGCAGGATGGTGAAGGGTTGACCTGTGTCCATTTCTGCTTCTGGAACAGCTGGGTGATGTTTGGGGACACAGAAGGAGTCTTCCAGGGTGTTGAGTTGCCACAGGGGTACTCCCTCATGGAAGACAAGAAAATATTCCATAATCAGCCTCAAAGTTGCTGACAAATCCCTAGGCATAAGAAATTGTGCCCAACCCTTTCCTCCTCCTCTTTAGACCCAGGCCCTTTCTTCTTATTCTCTTGGAGGCTGGTTTCTGCTCAAGCAATATCAAAACTAGGGTTTTGTGACTGACTAGGTGTGGGGCTGGGGAATAACCATCTCTAGCTTGTGGATCGTTTTGTCTCCCTTTTTATTCCTAGCAGCTCTAGCTGTTGAGAGACACAGCAACCAGAAGAGGAATTTGAAATTAGTCTGTTTTGGTCCTTATTGACAGCTTTGAAAAAGACTGAGGGAGAAAAGTTAAAATTATATTGAACTTTTAGGATTCCTGGTGGATGTCAATGGCCTTCGCTAACTCCCTTCTCCAGACTCACAACTATCACAAAGTACTGGCCACTGTGTCACTCACGCCATTCAAGGCCCAATCACACAATAGCATAACCCTATTTCCCTCCCTCCCTGCTCAGAGGCCTTTCAAATAAGTTATGGGGAATCATCTGTCAACTCAACATAGAACTTCTATGCTGAGAAATATAGAGCTGTCCAGTGGTGTGGGGGCTTCCTAGGAGGTAGTGAATGTCCCTGCACACAAGTGTGGAAGGAGAGGTTGGGGGAGTGCTGGTCAGAGACATGGAAGTGACCAGCAGAGCAGGATTGAGTGGGGCCTCCCCAACGCCTGCCATCTTGAACCCACCGTTGGGTCCTCCCAGGGGAGCTAGTCTTCTTAGGACAGGGGCGCGTAGGCACTTACGGAAGCCACCCTTCCTTCAGGCAGCGGTTGCCAAAGCCTGGCTTATTCAGGAGGACGTCTGCAAGTACCGTGAACTGCTCACTGCCTGGTTCATCCATGCTAGACAGAGTGAGACATGTGACTGGGACAGAGCAGGCGCGTGCCAACATCATGCAACTCAGAGCCTTTACTGGATAGCTGCTGTGTGCCAGGTATGTATTGGAGGCACCGAATGCTGCCTTGGGATGGCGCTAGCTCTCCTGGGAGTGCGGTAGGCTGCCTGAACACTCGCAGTGGTCTGATGGCATGTCACCTATGCCTCAAAAAGATGGCGCTTCAACCCATTCACCTAAGCTTTGCATTCCTTTCCCCATTCGGCCTTCCCAAGCAGTCCTGCCTGTCCACTAGGATCGCCTTTCCAAGCAGTGGCAGATACATTAAGTTCCTTTCTGCAGGCAGCCCAAAGACCCCTCCCCTCTCTCATTGGTGAAGGTCCCAGTGAAGTGGGAAGGTCAGGGCCCTTCTAAGCAGCATGTGACCCAGGTGCCCCAAACCCACAGAGGAGAATGGTGACCCCGAGTCCGCGCACCTGAAGAAGGTGTACTGCTGCCCATATATCCAGGGGCGAAGGGTCAAAGCGGGGTATTCGCCAAAAGGAGGGATAACAATAGAAAGCATCAGAGCCAAAAACACAAAGGTAGCCGGGAGCACGATCTGTGGGAGAATAGACGTGGAATAAACATGACTGTGGCATGGAGATGTCACACGTGCGCGTGCACACACATCTTCATTCTTTTAAACATTTATCCTGCAGCCTCCTAATCAGCCCCTGGTGGAGAGGGTTGGGCTTCTGGGGGAACATAATAAGCAGGGTGTGCAAAGGTAAGATGTGCAGAAGAAAACAGAATGTTCTGGTGGCCACTGAAGAATCTGAATGCAGCCCAGTGTTCAGCCAGACTTCAAAGGGCATTTCAAAGAGCAAGTCACGTGACTCACTGTTCTTTAAACCAGAGCTTCTTTTTCTAAATTAAACAACATTAAAAGAAAAAAGAGGGCAATGATTTTGATATGTAGGGTCACTGCAAAAATGAATGAAAACATGACTTTATCCCTCACTGTAAAAATAAAAACAATATTAACATTTTCACTATTATTCTATTTTCTTTGCTAGGGGAGGTCCAACTTACAAAGAAGATTCATGTTACCAAGAATCAAGATAAGGGTTTGGAAAGCAGGAAACAAAACCAGCAGAATCTAAAGAGGGTGCTCCTTGCTGAGTTATAACCCATGCCTGAAGGAACACTCAGGAGAGGAGGGGAAGGCTGGGAGAGGAGCCACTGAGCTCAGCTAAACACCGACCGACAATAGTACCTGCGCCAGGAAGTCCTTGTGGCTGCGGATGGTGTGTTGGAATCTCTTGACCAGCAGCGCCTGCACATGCTGGAGGACCAGCTGTGTCCCCGTGTTGAGCTGCGGGCCTGGGCACTCTGGCTCTGGGGGAGGCTGGCCCTCTGGGTGAGCAGCCGGCGCCCCTGGGGAGCAGACATTGGAGTCCTGGGGTGTCTGTCCAGCCTTCTCTCTGGGACCCAAGCAGGGGTGTCGGGGGTTGACGTTTTCTCTTTTCTGCTGAGCGCCACCTGTTTTGAGAGATTGAATTAATAATTTGGAAAATGCCTATAAGGTCTGGATCTCTAATGCCATTTTTTTTTTCCCTTACAGCATTGATTTTCCTCTTCATTTAAGTCAGCAATGAAATACCAGGCTGGTAGCTTAATCATCTTTATAAAAATCTATTTCTAGTGTAAATTACTTATACAGAGAAATTGTATAGATTCACCTGAAATTGCCTTAAAATTCTCTATTAACATTAAAGAGAACAAAATAGCTCTAAAAGCATTGACATGGAGAAGTTTAAAATACGTAACTTGGTTAATAAAAAAACAAAACTGGCTGGGCACGGAGGCTCACGCCTGTCATCTCAGCACTTTGGGAGGCTGAGGTGGATGGATCATTTGAGGTCAGCAGTTTGAGACCAGCTTGACCTACATAGTGAAACCCCCTCTCTACAAAAATACAAAAATTAGCCAGGCATGGTGGCAGGCACCTGTAATCCCAACTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCGTAAGCCGAGATTGCAAGACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCTTCTCAAACAGCACAAAGAAAACCAAACAAACAAACAAAAAAACTAAGGTGCTGGTCAATATGTGTAATACACTCACATTTATGTTTAAAATTCATGTTCATGTATCCTACACAAAGAAAAACTGACATCTTATGTACACACACACACATAATTGTAAAACTCTGAAAGAATGTCCACCGACTGTCAGCAGAAGCTCTCCCTGGGGAGGCAGAGTTGGGTAGAAAGGGGAGAGGAAGTGGGAAGCGAGACTTTAGCCTTTTGTGTATTATATGAATTTTTAAACAACAAAATACATTCACCTATTACCTGTGTACTTAAACAAATGAAAAATCAGAGTCGATGTGGTTCTTTCTGAATTCTTAGAGGATACTGAGAAGTGGTAGAAAAAGTAATGAACTAAGAGTTAGGGGACTGAGGTTTGAATATGGATTCTTACAAGATACATAAAT
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Task1_train_1184
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A variant has been detected on Chromosome 1 in ABCA4 (ATP binding cassette subfamily A member 4). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; not provided
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TTATTGACATGGATGCATGTTCCTAGTAAATTATGCAGTAAATCAGATTTTAAGACAATATTTGGAATATAATCTGTTTGGGTGGCTGCAAACCAAACATTATCTGTGTTTATATCCAAGCGATGATTTTTTTTCCTTCTGACTTACCTGTGTTTTCTAATTTTTCTATAATGAGCACATATGACTTAATTTTTTTTAGTGCTTAAACACATTTTTTCTACTAGATCAAATAGGAAGTATCTGGTGGAAAATGAAGCTTTTGGTGAGTGGCTTCCTCCAGTTGGCAGCCACAGCGCCCTGTGGGGAGCCCCTCCCAGAGGGTGCAGGGAGTTTGGTTTAGTCCCCTACTCAACTGCCAGTTTGAAATGTTAGTTTGTGAGAGACTCAGGAGATACCAGGGACTCCCCTAGTCCCTCTGTGGCAGGCAGACCTGGGGCCCCGTTGTTTGGAGGTCAGGTACCTGGGGGGGCGGGAGGCCCCCGGCACCCTCGGGGCACTCTGGCAGCATGGTGAGCTTCTCCCTGGTGCTGCACCTGCAGGATGGTGAAGGGTTGACCTGTGTCCATTTCTGCTTCTGGAACAGCTGGGTGATGTTTGGGGACACAGAAGGAGTCTTCCAGGGTGTTGAGTTGCCACAGGGGTACTCCCTCATGGAAGACAAGAAAATATTCCATAATCAGCCTCAAAGTTGCTGACAAATCCCTAGGCATAAGAAATTGTGCCCAACCCTTTCCTCCTCCTCTTTAGACCCAGGCCCTTTCTTCTTATTCTCTTGGAGGCTGGTTTCTGCTCAAGCAATATCAAAACTAGGGTTTTGTGACTGACTAGGTGTGGGGCTGGGGAATAACCATCTCTAGCTTGTGGATCGTTTTGTCTCCCTTTTTATTCCTAGCAGCTCTAGCTGTTGAGAGACACAGCAACCAGAAGAGGAATTTGAAATTAGTCTGTTTTGGTCCTTATTGACAGCTTTGAAAAAGACTGAGGGAGAAAAGTTAAAATTATATTGAACTTTTAGGATTCCTGGTGGATGTCAATGGCCTTCGCTAACTCCCTTCTCCAGACTCACAACTATCACAAAGTACTGGCCACTGTGTCACTCACGCCATTCAAGGCCCAATCACACAATAGCATAACCCTATTTCCCTCCCTCCCTGCTCAGAGGCCTTTCAAATAAGTTATGGGGAATCATCTGTCAACTCAACATAGAACTTCTATGCTGAGAAATATAGAGCTGTCCAGTGGTGTGGGGGCTTCCTAGGAGGTAGTGAATGTCCCTGCACACAAGTGTGGAAGGAGAGGTTGGGGGAGTGCTGGTCAGAGACATGGAAGTGACCAGCAGAGCAGGATTGAGTGGGGCCTCCCCAACGCCTGCCATCTTGAACCCACCGTTGGGTCCTCCCAGGGGAGCTAGTCTTCTTAGGACAGGGGCGCGTAGGCACTTACGGAAGCCACCCTTCCTTCAGGCAGCGGTTGCCAAAGCCTGGCTTATTCAGGAGGACGTCTGCAAGTACCGTGAACTGCTCACTGCCTGGTTCATCCATGCTAGACAGAGTGAGACATGTGACTGGGACAGAGCAGGCGCGTGCCAACATCATGCAACTCAGAGCCTTTACTGGATAGCTGCTGTGTGCCAGGTATGTATTGGAGGCACCGAATGCTGCCTTGGGATGGCGCTAGCTCTCCTGGGAGTGCGGTAGGCTGCCTGAACACTCGCAGTGGTCTGATGGCATGTCACCTATGCCTCAAAAAGATGGCGCTTCAACCCATTCACCTAAGCTTTGCATTCCTTTCCCCATTCGGCCTTCCCAAGCAGTCCTGCCTGTCCACTAGGATCGCCTTTCCAAGCAGTGGCAGATACATTAAGTTCCTTTCTGCAGGCAGCCCAAAGACCCCTCCCCTCTCTCATTGGTGAAGGTCCCAGTGAAGTGGGAAGGTCAGGGCCCTTCTAAGCAGCATGTGACCCAGGTGCCCCAAACCCACAGAGGAGAATGGTGACCCCGAGTCCGCGCACCTGAAGAAGGTGTACTGCTGCCCATATATCCAGGGGTGAAGGGTCAAAGCGGGGTATTCGCCAAAAGGAGGGATAACAATAGAAAGCATCAGAGCCAAAAACACAAAGGTAGCCGGGAGCACGATCTGTGGGAGAATAGACGTGGAATAAACATGACTGTGGCATGGAGATGTCACACGTGCGCGTGCACACACATCTTCATTCTTTTAAACATTTATCCTGCAGCCTCCTAATCAGCCCCTGGTGGAGAGGGTTGGGCTTCTGGGGGAACATAATAAGCAGGGTGTGCAAAGGTAAGATGTGCAGAAGAAAACAGAATGTTCTGGTGGCCACTGAAGAATCTGAATGCAGCCCAGTGTTCAGCCAGACTTCAAAGGGCATTTCAAAGAGCAAGTCACGTGACTCACTGTTCTTTAAACCAGAGCTTCTTTTTCTAAATTAAACAACATTAAAAGAAAAAAGAGGGCAATGATTTTGATATGTAGGGTCACTGCAAAAATGAATGAAAACATGACTTTATCCCTCACTGTAAAAATAAAAACAATATTAACATTTTCACTATTATTCTATTTTCTTTGCTAGGGGAGGTCCAACTTACAAAGAAGATTCATGTTACCAAGAATCAAGATAAGGGTTTGGAAAGCAGGAAACAAAACCAGCAGAATCTAAAGAGGGTGCTCCTTGCTGAGTTATAACCCATGCCTGAAGGAACACTCAGGAGAGGAGGGGAAGGCTGGGAGAGGAGCCACTGAGCTCAGCTAAACACCGACCGACAATAGTACCTGCGCCAGGAAGTCCTTGTGGCTGCGGATGGTGTGTTGGAATCTCTTGACCAGCAGCGCCTGCACATGCTGGAGGACCAGCTGTGTCCCCGTGTTGAGCTGCGGGCCTGGGCACTCTGGCTCTGGGGGAGGCTGGCCCTCTGGGTGAGCAGCCGGCGCCCCTGGGGAGCAGACATTGGAGTCCTGGGGTGTCTGTCCAGCCTTCTCTCTGGGACCCAAGCAGGGGTGTCGGGGGTTGACGTTTTCTCTTTTCTGCTGAGCGCCACCTGTTTTGAGAGATTGAATTAATAATTTGGAAAATGCCTATAAGGTCTGGATCTCTAATGCCATTTTTTTTTTCCCTTACAGCATTGATTTTCCTCTTCATTTAAGTCAGCAATGAAATACCAGGCTGGTAGCTTAATCATCTTTATAAAAATCTATTTCTAGTGTAAATTACTTATACAGAGAAATTGTATAGATTCACCTGAAATTGCCTTAAAATTCTCTATTAACATTAAAGAGAACAAAATAGCTCTAAAAGCATTGACATGGAGAAGTTTAAAATACGTAACTTGGTTAATAAAAAAACAAAACTGGCTGGGCACGGAGGCTCACGCCTGTCATCTCAGCACTTTGGGAGGCTGAGGTGGATGGATCATTTGAGGTCAGCAGTTTGAGACCAGCTTGACCTACATAGTGAAACCCCCTCTCTACAAAAATACAAAAATTAGCCAGGCATGGTGGCAGGCACCTGTAATCCCAACTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCGTAAGCCGAGATTGCAAGACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCTTCTCAAACAGCACAAAGAAAACCAAACAAACAAACAAAAAAACTAAGGTGCTGGTCAATATGTGTAATACACTCACATTTATGTTTAAAATTCATGTTCATGTATCCTACACAAAGAAAAACTGACATCTTATGTACACACACACACATAATTGTAAAACTCTGAAAGAATGTCCACCGACTGTCAGCAGAAGCTCTCCCTGGGGAGGCAGAGTTGGGTAGAAAGGGGAGAGGAAGTGGGAAGCGAGACTTTAGCCTTTTGTGTATTATATGAATTTTTAAACAACAAAATACATTCACCTATTACCTGTGTACTTAAACAAATGAAAAATCAGAGTCGATGTGGTTCTTTCTGAATTCTTAGAGGATACTGAGAAGTGGTAGAAAAAGTAATGAACTAAGAGTTAGGGGACTGAGGTTTGAATATGGATTCTTACAAGATACATAAATT
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TTATTGACATGGATGCATGTTCCTAGTAAATTATGCAGTAAATCAGATTTTAAGACAATATTTGGAATATAATCTGTTTGGGTGGCTGCAAACCAAACATTATCTGTGTTTATATCCAAGCGATGATTTTTTTTCCTTCTGACTTACCTGTGTTTTCTAATTTTTCTATAATGAGCACATATGACTTAATTTTTTTTAGTGCTTAAACACATTTTTTCTACTAGATCAAATAGGAAGTATCTGGTGGAAAATGAAGCTTTTGGTGAGTGGCTTCCTCCAGTTGGCAGCCACAGCGCCCTGTGGGGAGCCCCTCCCAGAGGGTGCAGGGAGTTTGGTTTAGTCCCCTACTCAACTGCCAGTTTGAAATGTTAGTTTGTGAGAGACTCAGGAGATACCAGGGACTCCCCTAGTCCCTCTGTGGCAGGCAGACCTGGGGCCCCGTTGTTTGGAGGTCAGGTACCTGGGGGGGCGGGAGGCCCCCGGCACCCTCGGGGCACTCTGGCAGCATGGTGAGCTTCTCCCTGGTGCTGCACCTGCAGGATGGTGAAGGGTTGACCTGTGTCCATTTCTGCTTCTGGAACAGCTGGGTGATGTTTGGGGACACAGAAGGAGTCTTCCAGGGTGTTGAGTTGCCACAGGGGTACTCCCTCATGGAAGACAAGAAAATATTCCATAATCAGCCTCAAAGTTGCTGACAAATCCCTAGGCATAAGAAATTGTGCCCAACCCTTTCCTCCTCCTCTTTAGACCCAGGCCCTTTCTTCTTATTCTCTTGGAGGCTGGTTTCTGCTCAAGCAATATCAAAACTAGGGTTTTGTGACTGACTAGGTGTGGGGCTGGGGAATAACCATCTCTAGCTTGTGGATCGTTTTGTCTCCCTTTTTATTCCTAGCAGCTCTAGCTGTTGAGAGACACAGCAACCAGAAGAGGAATTTGAAATTAGTCTGTTTTGGTCCTTATTGACAGCTTTGAAAAAGACTGAGGGAGAAAAGTTAAAATTATATTGAACTTTTAGGATTCCTGGTGGATGTCAATGGCCTTCGCTAACTCCCTTCTCCAGACTCACAACTATCACAAAGTACTGGCCACTGTGTCACTCACGCCATTCAAGGCCCAATCACACAATAGCATAACCCTATTTCCCTCCCTCCCTGCTCAGAGGCCTTTCAAATAAGTTATGGGGAATCATCTGTCAACTCAACATAGAACTTCTATGCTGAGAAATATAGAGCTGTCCAGTGGTGTGGGGGCTTCCTAGGAGGTAGTGAATGTCCCTGCACACAAGTGTGGAAGGAGAGGTTGGGGGAGTGCTGGTCAGAGACATGGAAGTGACCAGCAGAGCAGGATTGAGTGGGGCCTCCCCAACGCCTGCCATCTTGAACCCACCGTTGGGTCCTCCCAGGGGAGCTAGTCTTCTTAGGACAGGGGCGCGTAGGCACTTACGGAAGCCACCCTTCCTTCAGGCAGCGGTTGCCAAAGCCTGGCTTATTCAGGAGGACGTCTGCAAGTACCGTGAACTGCTCACTGCCTGGTTCATCCATGCTAGACAGAGTGAGACATGTGACTGGGACAGAGCAGGCGCGTGCCAACATCATGCAACTCAGAGCCTTTACTGGATAGCTGCTGTGTGCCAGGTATGTATTGGAGGCACCGAATGCTGCCTTGGGATGGCGCTAGCTCTCCTGGGAGTGCGGTAGGCTGCCTGAACACTCGCAGTGGTCTGATGGCATGTCACCTATGCCTCAAAAAGATGGCGCTTCAACCCATTCACCTAAGCTTTGCATTCCTTTCCCCATTCGGCCTTCCCAAGCAGTCCTGCCTGTCCACTAGGATCGCCTTTCCAAGCAGTGGCAGATACATTAAGTTCCTTTCTGCAGGCAGCCCAAAGACCCCTCCCCTCTCTCATTGGTGAAGGTCCCAGTGAAGTGGGAAGGTCAGGGCCCTTCTAAGCAGCATGTGACCCAGGTGCCCCAAACCCACAGAGGAGAATGGTGACCCCGAGTCCGCGCACCTGAAGAAGGTGTACTGCTGCCCATATATCCAGGGGTAAAGGGTCAAAGCGGGGTATTCGCCAAAAGGAGGGATAACAATAGAAAGCATCAGAGCCAAAAACACAAAGGTAGCCGGGAGCACGATCTGTGGGAGAATAGACGTGGAATAAACATGACTGTGGCATGGAGATGTCACACGTGCGCGTGCACACACATCTTCATTCTTTTAAACATTTATCCTGCAGCCTCCTAATCAGCCCCTGGTGGAGAGGGTTGGGCTTCTGGGGGAACATAATAAGCAGGGTGTGCAAAGGTAAGATGTGCAGAAGAAAACAGAATGTTCTGGTGGCCACTGAAGAATCTGAATGCAGCCCAGTGTTCAGCCAGACTTCAAAGGGCATTTCAAAGAGCAAGTCACGTGACTCACTGTTCTTTAAACCAGAGCTTCTTTTTCTAAATTAAACAACATTAAAAGAAAAAAGAGGGCAATGATTTTGATATGTAGGGTCACTGCAAAAATGAATGAAAACATGACTTTATCCCTCACTGTAAAAATAAAAACAATATTAACATTTTCACTATTATTCTATTTTCTTTGCTAGGGGAGGTCCAACTTACAAAGAAGATTCATGTTACCAAGAATCAAGATAAGGGTTTGGAAAGCAGGAAACAAAACCAGCAGAATCTAAAGAGGGTGCTCCTTGCTGAGTTATAACCCATGCCTGAAGGAACACTCAGGAGAGGAGGGGAAGGCTGGGAGAGGAGCCACTGAGCTCAGCTAAACACCGACCGACAATAGTACCTGCGCCAGGAAGTCCTTGTGGCTGCGGATGGTGTGTTGGAATCTCTTGACCAGCAGCGCCTGCACATGCTGGAGGACCAGCTGTGTCCCCGTGTTGAGCTGCGGGCCTGGGCACTCTGGCTCTGGGGGAGGCTGGCCCTCTGGGTGAGCAGCCGGCGCCCCTGGGGAGCAGACATTGGAGTCCTGGGGTGTCTGTCCAGCCTTCTCTCTGGGACCCAAGCAGGGGTGTCGGGGGTTGACGTTTTCTCTTTTCTGCTGAGCGCCACCTGTTTTGAGAGATTGAATTAATAATTTGGAAAATGCCTATAAGGTCTGGATCTCTAATGCCATTTTTTTTTTCCCTTACAGCATTGATTTTCCTCTTCATTTAAGTCAGCAATGAAATACCAGGCTGGTAGCTTAATCATCTTTATAAAAATCTATTTCTAGTGTAAATTACTTATACAGAGAAATTGTATAGATTCACCTGAAATTGCCTTAAAATTCTCTATTAACATTAAAGAGAACAAAATAGCTCTAAAAGCATTGACATGGAGAAGTTTAAAATACGTAACTTGGTTAATAAAAAAACAAAACTGGCTGGGCACGGAGGCTCACGCCTGTCATCTCAGCACTTTGGGAGGCTGAGGTGGATGGATCATTTGAGGTCAGCAGTTTGAGACCAGCTTGACCTACATAGTGAAACCCCCTCTCTACAAAAATACAAAAATTAGCCAGGCATGGTGGCAGGCACCTGTAATCCCAACTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCGTAAGCCGAGATTGCAAGACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCTTCTCAAACAGCACAAAGAAAACCAAACAAACAAACAAAAAAACTAAGGTGCTGGTCAATATGTGTAATACACTCACATTTATGTTTAAAATTCATGTTCATGTATCCTACACAAAGAAAAACTGACATCTTATGTACACACACACACATAATTGTAAAACTCTGAAAGAATGTCCACCGACTGTCAGCAGAAGCTCTCCCTGGGGAGGCAGAGTTGGGTAGAAAGGGGAGAGGAAGTGGGAAGCGAGACTTTAGCCTTTTGTGTATTATATGAATTTTTAAACAACAAAATACATTCACCTATTACCTGTGTACTTAAACAAATGAAAAATCAGAGTCGATGTGGTTCTTTCTGAATTCTTAGAGGATACTGAGAAGTGGTAGAAAAAGTAATGAACTAAGAGTTAGGGGACTGAGGTTTGAATATGGATTCTTACAAGATACATAAATT
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Task1_train_1185
|
Consider this mutation in ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Is this a benign change or a disease-causing variant?
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Pathogenic; not provided
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AAATCAGATTTTAAGACAATATTTGGAATATAATCTGTTTGGGTGGCTGCAAACCAAACATTATCTGTGTTTATATCCAAGCGATGATTTTTTTTCCTTCTGACTTACCTGTGTTTTCTAATTTTTCTATAATGAGCACATATGACTTAATTTTTTTTAGTGCTTAAACACATTTTTTCTACTAGATCAAATAGGAAGTATCTGGTGGAAAATGAAGCTTTTGGTGAGTGGCTTCCTCCAGTTGGCAGCCACAGCGCCCTGTGGGGAGCCCCTCCCAGAGGGTGCAGGGAGTTTGGTTTAGTCCCCTACTCAACTGCCAGTTTGAAATGTTAGTTTGTGAGAGACTCAGGAGATACCAGGGACTCCCCTAGTCCCTCTGTGGCAGGCAGACCTGGGGCCCCGTTGTTTGGAGGTCAGGTACCTGGGGGGGCGGGAGGCCCCCGGCACCCTCGGGGCACTCTGGCAGCATGGTGAGCTTCTCCCTGGTGCTGCACCTGCAGGATGGTGAAGGGTTGACCTGTGTCCATTTCTGCTTCTGGAACAGCTGGGTGATGTTTGGGGACACAGAAGGAGTCTTCCAGGGTGTTGAGTTGCCACAGGGGTACTCCCTCATGGAAGACAAGAAAATATTCCATAATCAGCCTCAAAGTTGCTGACAAATCCCTAGGCATAAGAAATTGTGCCCAACCCTTTCCTCCTCCTCTTTAGACCCAGGCCCTTTCTTCTTATTCTCTTGGAGGCTGGTTTCTGCTCAAGCAATATCAAAACTAGGGTTTTGTGACTGACTAGGTGTGGGGCTGGGGAATAACCATCTCTAGCTTGTGGATCGTTTTGTCTCCCTTTTTATTCCTAGCAGCTCTAGCTGTTGAGAGACACAGCAACCAGAAGAGGAATTTGAAATTAGTCTGTTTTGGTCCTTATTGACAGCTTTGAAAAAGACTGAGGGAGAAAAGTTAAAATTATATTGAACTTTTAGGATTCCTGGTGGATGTCAATGGCCTTCGCTAACTCCCTTCTCCAGACTCACAACTATCACAAAGTACTGGCCACTGTGTCACTCACGCCATTCAAGGCCCAATCACACAATAGCATAACCCTATTTCCCTCCCTCCCTGCTCAGAGGCCTTTCAAATAAGTTATGGGGAATCATCTGTCAACTCAACATAGAACTTCTATGCTGAGAAATATAGAGCTGTCCAGTGGTGTGGGGGCTTCCTAGGAGGTAGTGAATGTCCCTGCACACAAGTGTGGAAGGAGAGGTTGGGGGAGTGCTGGTCAGAGACATGGAAGTGACCAGCAGAGCAGGATTGAGTGGGGCCTCCCCAACGCCTGCCATCTTGAACCCACCGTTGGGTCCTCCCAGGGGAGCTAGTCTTCTTAGGACAGGGGCGCGTAGGCACTTACGGAAGCCACCCTTCCTTCAGGCAGCGGTTGCCAAAGCCTGGCTTATTCAGGAGGACGTCTGCAAGTACCGTGAACTGCTCACTGCCTGGTTCATCCATGCTAGACAGAGTGAGACATGTGACTGGGACAGAGCAGGCGCGTGCCAACATCATGCAACTCAGAGCCTTTACTGGATAGCTGCTGTGTGCCAGGTATGTATTGGAGGCACCGAATGCTGCCTTGGGATGGCGCTAGCTCTCCTGGGAGTGCGGTAGGCTGCCTGAACACTCGCAGTGGTCTGATGGCATGTCACCTATGCCTCAAAAAGATGGCGCTTCAACCCATTCACCTAAGCTTTGCATTCCTTTCCCCATTCGGCCTTCCCAAGCAGTCCTGCCTGTCCACTAGGATCGCCTTTCCAAGCAGTGGCAGATACATTAAGTTCCTTTCTGCAGGCAGCCCAAAGACCCCTCCCCTCTCTCATTGGTGAAGGTCCCAGTGAAGTGGGAAGGTCAGGGCCCTTCTAAGCAGCATGTGACCCAGGTGCCCCAAACCCACAGAGGAGAATGGTGACCCCGAGTCCGCGCACCTGAAGAAGGTGTACTGCTGCCCATATATCCAGGGGTGAAGGGTCAAAGCGGGGTATTCGCCAAAAGGAGGGATAACAATAGAAAGCATCAGAGCCAAAAACACAAAGGTAGCCGGGAGCACGATCTGTGGGAGAATAGACGTGGAATAAACATGACTGTGGCATGGAGATGTCACACGTGCGCGTGCACACACATCTTCATTCTTTTAAACATTTATCCTGCAGCCTCCTAATCAGCCCCTGGTGGAGAGGGTTGGGCTTCTGGGGGAACATAATAAGCAGGGTGTGCAAAGGTAAGATGTGCAGAAGAAAACAGAATGTTCTGGTGGCCACTGAAGAATCTGAATGCAGCCCAGTGTTCAGCCAGACTTCAAAGGGCATTTCAAAGAGCAAGTCACGTGACTCACTGTTCTTTAAACCAGAGCTTCTTTTTCTAAATTAAACAACATTAAAAGAAAAAAGAGGGCAATGATTTTGATATGTAGGGTCACTGCAAAAATGAATGAAAACATGACTTTATCCCTCACTGTAAAAATAAAAACAATATTAACATTTTCACTATTATTCTATTTTCTTTGCTAGGGGAGGTCCAACTTACAAAGAAGATTCATGTTACCAAGAATCAAGATAAGGGTTTGGAAAGCAGGAAACAAAACCAGCAGAATCTAAAGAGGGTGCTCCTTGCTGAGTTATAACCCATGCCTGAAGGAACACTCAGGAGAGGAGGGGAAGGCTGGGAGAGGAGCCACTGAGCTCAGCTAAACACCGACCGACAATAGTACCTGCGCCAGGAAGTCCTTGTGGCTGCGGATGGTGTGTTGGAATCTCTTGACCAGCAGCGCCTGCACATGCTGGAGGACCAGCTGTGTCCCCGTGTTGAGCTGCGGGCCTGGGCACTCTGGCTCTGGGGGAGGCTGGCCCTCTGGGTGAGCAGCCGGCGCCCCTGGGGAGCAGACATTGGAGTCCTGGGGTGTCTGTCCAGCCTTCTCTCTGGGACCCAAGCAGGGGTGTCGGGGGTTGACGTTTTCTCTTTTCTGCTGAGCGCCACCTGTTTTGAGAGATTGAATTAATAATTTGGAAAATGCCTATAAGGTCTGGATCTCTAATGCCATTTTTTTTTTCCCTTACAGCATTGATTTTCCTCTTCATTTAAGTCAGCAATGAAATACCAGGCTGGTAGCTTAATCATCTTTATAAAAATCTATTTCTAGTGTAAATTACTTATACAGAGAAATTGTATAGATTCACCTGAAATTGCCTTAAAATTCTCTATTAACATTAAAGAGAACAAAATAGCTCTAAAAGCATTGACATGGAGAAGTTTAAAATACGTAACTTGGTTAATAAAAAAACAAAACTGGCTGGGCACGGAGGCTCACGCCTGTCATCTCAGCACTTTGGGAGGCTGAGGTGGATGGATCATTTGAGGTCAGCAGTTTGAGACCAGCTTGACCTACATAGTGAAACCCCCTCTCTACAAAAATACAAAAATTAGCCAGGCATGGTGGCAGGCACCTGTAATCCCAACTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCGTAAGCCGAGATTGCAAGACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCTTCTCAAACAGCACAAAGAAAACCAAACAAACAAACAAAAAAACTAAGGTGCTGGTCAATATGTGTAATACACTCACATTTATGTTTAAAATTCATGTTCATGTATCCTACACAAAGAAAAACTGACATCTTATGTACACACACACACATAATTGTAAAACTCTGAAAGAATGTCCACCGACTGTCAGCAGAAGCTCTCCCTGGGGAGGCAGAGTTGGGTAGAAAGGGGAGAGGAAGTGGGAAGCGAGACTTTAGCCTTTTGTGTATTATATGAATTTTTAAACAACAAAATACATTCACCTATTACCTGTGTACTTAAACAAATGAAAAATCAGAGTCGATGTGGTTCTTTCTGAATTCTTAGAGGATACTGAGAAGTGGTAGAAAAAGTAATGAACTAAGAGTTAGGGGACTGAGGTTTGAATATGGATTCTTACAAGATACATAAATTTGGGGAAGTGACTCAATCTGCCTAAATCTGAGTTTTCTC
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AAATCAGATTTTAAGACAATATTTGGAATATAATCTGTTTGGGTGGCTGCAAACCAAACATTATCTGTGTTTATATCCAAGCGATGATTTTTTTTCCTTCTGACTTACCTGTGTTTTCTAATTTTTCTATAATGAGCACATATGACTTAATTTTTTTTAGTGCTTAAACACATTTTTTCTACTAGATCAAATAGGAAGTATCTGGTGGAAAATGAAGCTTTTGGTGAGTGGCTTCCTCCAGTTGGCAGCCACAGCGCCCTGTGGGGAGCCCCTCCCAGAGGGTGCAGGGAGTTTGGTTTAGTCCCCTACTCAACTGCCAGTTTGAAATGTTAGTTTGTGAGAGACTCAGGAGATACCAGGGACTCCCCTAGTCCCTCTGTGGCAGGCAGACCTGGGGCCCCGTTGTTTGGAGGTCAGGTACCTGGGGGGGCGGGAGGCCCCCGGCACCCTCGGGGCACTCTGGCAGCATGGTGAGCTTCTCCCTGGTGCTGCACCTGCAGGATGGTGAAGGGTTGACCTGTGTCCATTTCTGCTTCTGGAACAGCTGGGTGATGTTTGGGGACACAGAAGGAGTCTTCCAGGGTGTTGAGTTGCCACAGGGGTACTCCCTCATGGAAGACAAGAAAATATTCCATAATCAGCCTCAAAGTTGCTGACAAATCCCTAGGCATAAGAAATTGTGCCCAACCCTTTCCTCCTCCTCTTTAGACCCAGGCCCTTTCTTCTTATTCTCTTGGAGGCTGGTTTCTGCTCAAGCAATATCAAAACTAGGGTTTTGTGACTGACTAGGTGTGGGGCTGGGGAATAACCATCTCTAGCTTGTGGATCGTTTTGTCTCCCTTTTTATTCCTAGCAGCTCTAGCTGTTGAGAGACACAGCAACCAGAAGAGGAATTTGAAATTAGTCTGTTTTGGTCCTTATTGACAGCTTTGAAAAAGACTGAGGGAGAAAAGTTAAAATTATATTGAACTTTTAGGATTCCTGGTGGATGTCAATGGCCTTCGCTAACTCCCTTCTCCAGACTCACAACTATCACAAAGTACTGGCCACTGTGTCACTCACGCCATTCAAGGCCCAATCACACAATAGCATAACCCTATTTCCCTCCCTCCCTGCTCAGAGGCCTTTCAAATAAGTTATGGGGAATCATCTGTCAACTCAACATAGAACTTCTATGCTGAGAAATATAGAGCTGTCCAGTGGTGTGGGGGCTTCCTAGGAGGTAGTGAATGTCCCTGCACACAAGTGTGGAAGGAGAGGTTGGGGGAGTGCTGGTCAGAGACATGGAAGTGACCAGCAGAGCAGGATTGAGTGGGGCCTCCCCAACGCCTGCCATCTTGAACCCACCGTTGGGTCCTCCCAGGGGAGCTAGTCTTCTTAGGACAGGGGCGCGTAGGCACTTACGGAAGCCACCCTTCCTTCAGGCAGCGGTTGCCAAAGCCTGGCTTATTCAGGAGGACGTCTGCAAGTACCGTGAACTGCTCACTGCCTGGTTCATCCATGCTAGACAGAGTGAGACATGTGACTGGGACAGAGCAGGCGCGTGCCAACATCATGCAACTCAGAGCCTTTACTGGATAGCTGCTGTGTGCCAGGTATGTATTGGAGGCACCGAATGCTGCCTTGGGATGGCGCTAGCTCTCCTGGGAGTGCGGTAGGCTGCCTGAACACTCGCAGTGGTCTGATGGCATGTCACCTATGCCTCAAAAAGATGGCGCTTCAACCCATTCACCTAAGCTTTGCATTCCTTTCCCCATTCGGCCTTCCCAAGCAGTCCTGCCTGTCCACTAGGATCGCCTTTCCAAGCAGTGGCAGATACATTAAGTTCCTTTCTGCAGGCAGCCCAAAGACCCCTCCCCTCTCTCATTGGTGAAGGTCCCAGTGAAGTGGGAAGGTCAGGGCCCTTCTAAGCAGCATGTGACCCAGGTGCCCCAAACCCACAGAGGAGAATGGTGACCCCGAGTCCGCGCACCTGAAGAAGGTGTACTGCTGCCCATATATCCAGGGGTGAAGGGTCAAAGCGGGGTATTCGCCAAAAGGAGGGATAATAATAGAAAGCATCAGAGCCAAAAACACAAAGGTAGCCGGGAGCACGATCTGTGGGAGAATAGACGTGGAATAAACATGACTGTGGCATGGAGATGTCACACGTGCGCGTGCACACACATCTTCATTCTTTTAAACATTTATCCTGCAGCCTCCTAATCAGCCCCTGGTGGAGAGGGTTGGGCTTCTGGGGGAACATAATAAGCAGGGTGTGCAAAGGTAAGATGTGCAGAAGAAAACAGAATGTTCTGGTGGCCACTGAAGAATCTGAATGCAGCCCAGTGTTCAGCCAGACTTCAAAGGGCATTTCAAAGAGCAAGTCACGTGACTCACTGTTCTTTAAACCAGAGCTTCTTTTTCTAAATTAAACAACATTAAAAGAAAAAAGAGGGCAATGATTTTGATATGTAGGGTCACTGCAAAAATGAATGAAAACATGACTTTATCCCTCACTGTAAAAATAAAAACAATATTAACATTTTCACTATTATTCTATTTTCTTTGCTAGGGGAGGTCCAACTTACAAAGAAGATTCATGTTACCAAGAATCAAGATAAGGGTTTGGAAAGCAGGAAACAAAACCAGCAGAATCTAAAGAGGGTGCTCCTTGCTGAGTTATAACCCATGCCTGAAGGAACACTCAGGAGAGGAGGGGAAGGCTGGGAGAGGAGCCACTGAGCTCAGCTAAACACCGACCGACAATAGTACCTGCGCCAGGAAGTCCTTGTGGCTGCGGATGGTGTGTTGGAATCTCTTGACCAGCAGCGCCTGCACATGCTGGAGGACCAGCTGTGTCCCCGTGTTGAGCTGCGGGCCTGGGCACTCTGGCTCTGGGGGAGGCTGGCCCTCTGGGTGAGCAGCCGGCGCCCCTGGGGAGCAGACATTGGAGTCCTGGGGTGTCTGTCCAGCCTTCTCTCTGGGACCCAAGCAGGGGTGTCGGGGGTTGACGTTTTCTCTTTTCTGCTGAGCGCCACCTGTTTTGAGAGATTGAATTAATAATTTGGAAAATGCCTATAAGGTCTGGATCTCTAATGCCATTTTTTTTTTCCCTTACAGCATTGATTTTCCTCTTCATTTAAGTCAGCAATGAAATACCAGGCTGGTAGCTTAATCATCTTTATAAAAATCTATTTCTAGTGTAAATTACTTATACAGAGAAATTGTATAGATTCACCTGAAATTGCCTTAAAATTCTCTATTAACATTAAAGAGAACAAAATAGCTCTAAAAGCATTGACATGGAGAAGTTTAAAATACGTAACTTGGTTAATAAAAAAACAAAACTGGCTGGGCACGGAGGCTCACGCCTGTCATCTCAGCACTTTGGGAGGCTGAGGTGGATGGATCATTTGAGGTCAGCAGTTTGAGACCAGCTTGACCTACATAGTGAAACCCCCTCTCTACAAAAATACAAAAATTAGCCAGGCATGGTGGCAGGCACCTGTAATCCCAACTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCGTAAGCCGAGATTGCAAGACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCTTCTCAAACAGCACAAAGAAAACCAAACAAACAAACAAAAAAACTAAGGTGCTGGTCAATATGTGTAATACACTCACATTTATGTTTAAAATTCATGTTCATGTATCCTACACAAAGAAAAACTGACATCTTATGTACACACACACACATAATTGTAAAACTCTGAAAGAATGTCCACCGACTGTCAGCAGAAGCTCTCCCTGGGGAGGCAGAGTTGGGTAGAAAGGGGAGAGGAAGTGGGAAGCGAGACTTTAGCCTTTTGTGTATTATATGAATTTTTAAACAACAAAATACATTCACCTATTACCTGTGTACTTAAACAAATGAAAAATCAGAGTCGATGTGGTTCTTTCTGAATTCTTAGAGGATACTGAGAAGTGGTAGAAAAAGTAATGAACTAAGAGTTAGGGGACTGAGGTTTGAATATGGATTCTTACAAGATACATAAATTTGGGGAAGTGACTCAATCTGCCTAAATCTGAGTTTTCTC
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Task1_train_1186
|
A variant has been detected on Chromosome 1 in ABCA4 (ATP binding cassette subfamily A member 4). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; not provided
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GACAATATTTGGAATATAATCTGTTTGGGTGGCTGCAAACCAAACATTATCTGTGTTTATATCCAAGCGATGATTTTTTTTCCTTCTGACTTACCTGTGTTTTCTAATTTTTCTATAATGAGCACATATGACTTAATTTTTTTTAGTGCTTAAACACATTTTTTCTACTAGATCAAATAGGAAGTATCTGGTGGAAAATGAAGCTTTTGGTGAGTGGCTTCCTCCAGTTGGCAGCCACAGCGCCCTGTGGGGAGCCCCTCCCAGAGGGTGCAGGGAGTTTGGTTTAGTCCCCTACTCAACTGCCAGTTTGAAATGTTAGTTTGTGAGAGACTCAGGAGATACCAGGGACTCCCCTAGTCCCTCTGTGGCAGGCAGACCTGGGGCCCCGTTGTTTGGAGGTCAGGTACCTGGGGGGGCGGGAGGCCCCCGGCACCCTCGGGGCACTCTGGCAGCATGGTGAGCTTCTCCCTGGTGCTGCACCTGCAGGATGGTGAAGGGTTGACCTGTGTCCATTTCTGCTTCTGGAACAGCTGGGTGATGTTTGGGGACACAGAAGGAGTCTTCCAGGGTGTTGAGTTGCCACAGGGGTACTCCCTCATGGAAGACAAGAAAATATTCCATAATCAGCCTCAAAGTTGCTGACAAATCCCTAGGCATAAGAAATTGTGCCCAACCCTTTCCTCCTCCTCTTTAGACCCAGGCCCTTTCTTCTTATTCTCTTGGAGGCTGGTTTCTGCTCAAGCAATATCAAAACTAGGGTTTTGTGACTGACTAGGTGTGGGGCTGGGGAATAACCATCTCTAGCTTGTGGATCGTTTTGTCTCCCTTTTTATTCCTAGCAGCTCTAGCTGTTGAGAGACACAGCAACCAGAAGAGGAATTTGAAATTAGTCTGTTTTGGTCCTTATTGACAGCTTTGAAAAAGACTGAGGGAGAAAAGTTAAAATTATATTGAACTTTTAGGATTCCTGGTGGATGTCAATGGCCTTCGCTAACTCCCTTCTCCAGACTCACAACTATCACAAAGTACTGGCCACTGTGTCACTCACGCCATTCAAGGCCCAATCACACAATAGCATAACCCTATTTCCCTCCCTCCCTGCTCAGAGGCCTTTCAAATAAGTTATGGGGAATCATCTGTCAACTCAACATAGAACTTCTATGCTGAGAAATATAGAGCTGTCCAGTGGTGTGGGGGCTTCCTAGGAGGTAGTGAATGTCCCTGCACACAAGTGTGGAAGGAGAGGTTGGGGGAGTGCTGGTCAGAGACATGGAAGTGACCAGCAGAGCAGGATTGAGTGGGGCCTCCCCAACGCCTGCCATCTTGAACCCACCGTTGGGTCCTCCCAGGGGAGCTAGTCTTCTTAGGACAGGGGCGCGTAGGCACTTACGGAAGCCACCCTTCCTTCAGGCAGCGGTTGCCAAAGCCTGGCTTATTCAGGAGGACGTCTGCAAGTACCGTGAACTGCTCACTGCCTGGTTCATCCATGCTAGACAGAGTGAGACATGTGACTGGGACAGAGCAGGCGCGTGCCAACATCATGCAACTCAGAGCCTTTACTGGATAGCTGCTGTGTGCCAGGTATGTATTGGAGGCACCGAATGCTGCCTTGGGATGGCGCTAGCTCTCCTGGGAGTGCGGTAGGCTGCCTGAACACTCGCAGTGGTCTGATGGCATGTCACCTATGCCTCAAAAAGATGGCGCTTCAACCCATTCACCTAAGCTTTGCATTCCTTTCCCCATTCGGCCTTCCCAAGCAGTCCTGCCTGTCCACTAGGATCGCCTTTCCAAGCAGTGGCAGATACATTAAGTTCCTTTCTGCAGGCAGCCCAAAGACCCCTCCCCTCTCTCATTGGTGAAGGTCCCAGTGAAGTGGGAAGGTCAGGGCCCTTCTAAGCAGCATGTGACCCAGGTGCCCCAAACCCACAGAGGAGAATGGTGACCCCGAGTCCGCGCACCTGAAGAAGGTGTACTGCTGCCCATATATCCAGGGGTGAAGGGTCAAAGCGGGGTATTCGCCAAAAGGAGGGATAACAATAGAAAGCATCAGAGCCAAAAACACAAAGGTAGCCGGGAGCACGATCTGTGGGAGAATAGACGTGGAATAAACATGACTGTGGCATGGAGATGTCACACGTGCGCGTGCACACACATCTTCATTCTTTTAAACATTTATCCTGCAGCCTCCTAATCAGCCCCTGGTGGAGAGGGTTGGGCTTCTGGGGGAACATAATAAGCAGGGTGTGCAAAGGTAAGATGTGCAGAAGAAAACAGAATGTTCTGGTGGCCACTGAAGAATCTGAATGCAGCCCAGTGTTCAGCCAGACTTCAAAGGGCATTTCAAAGAGCAAGTCACGTGACTCACTGTTCTTTAAACCAGAGCTTCTTTTTCTAAATTAAACAACATTAAAAGAAAAAAGAGGGCAATGATTTTGATATGTAGGGTCACTGCAAAAATGAATGAAAACATGACTTTATCCCTCACTGTAAAAATAAAAACAATATTAACATTTTCACTATTATTCTATTTTCTTTGCTAGGGGAGGTCCAACTTACAAAGAAGATTCATGTTACCAAGAATCAAGATAAGGGTTTGGAAAGCAGGAAACAAAACCAGCAGAATCTAAAGAGGGTGCTCCTTGCTGAGTTATAACCCATGCCTGAAGGAACACTCAGGAGAGGAGGGGAAGGCTGGGAGAGGAGCCACTGAGCTCAGCTAAACACCGACCGACAATAGTACCTGCGCCAGGAAGTCCTTGTGGCTGCGGATGGTGTGTTGGAATCTCTTGACCAGCAGCGCCTGCACATGCTGGAGGACCAGCTGTGTCCCCGTGTTGAGCTGCGGGCCTGGGCACTCTGGCTCTGGGGGAGGCTGGCCCTCTGGGTGAGCAGCCGGCGCCCCTGGGGAGCAGACATTGGAGTCCTGGGGTGTCTGTCCAGCCTTCTCTCTGGGACCCAAGCAGGGGTGTCGGGGGTTGACGTTTTCTCTTTTCTGCTGAGCGCCACCTGTTTTGAGAGATTGAATTAATAATTTGGAAAATGCCTATAAGGTCTGGATCTCTAATGCCATTTTTTTTTTCCCTTACAGCATTGATTTTCCTCTTCATTTAAGTCAGCAATGAAATACCAGGCTGGTAGCTTAATCATCTTTATAAAAATCTATTTCTAGTGTAAATTACTTATACAGAGAAATTGTATAGATTCACCTGAAATTGCCTTAAAATTCTCTATTAACATTAAAGAGAACAAAATAGCTCTAAAAGCATTGACATGGAGAAGTTTAAAATACGTAACTTGGTTAATAAAAAAACAAAACTGGCTGGGCACGGAGGCTCACGCCTGTCATCTCAGCACTTTGGGAGGCTGAGGTGGATGGATCATTTGAGGTCAGCAGTTTGAGACCAGCTTGACCTACATAGTGAAACCCCCTCTCTACAAAAATACAAAAATTAGCCAGGCATGGTGGCAGGCACCTGTAATCCCAACTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCGTAAGCCGAGATTGCAAGACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCTTCTCAAACAGCACAAAGAAAACCAAACAAACAAACAAAAAAACTAAGGTGCTGGTCAATATGTGTAATACACTCACATTTATGTTTAAAATTCATGTTCATGTATCCTACACAAAGAAAAACTGACATCTTATGTACACACACACACATAATTGTAAAACTCTGAAAGAATGTCCACCGACTGTCAGCAGAAGCTCTCCCTGGGGAGGCAGAGTTGGGTAGAAAGGGGAGAGGAAGTGGGAAGCGAGACTTTAGCCTTTTGTGTATTATATGAATTTTTAAACAACAAAATACATTCACCTATTACCTGTGTACTTAAACAAATGAAAAATCAGAGTCGATGTGGTTCTTTCTGAATTCTTAGAGGATACTGAGAAGTGGTAGAAAAAGTAATGAACTAAGAGTTAGGGGACTGAGGTTTGAATATGGATTCTTACAAGATACATAAATTTGGGGAAGTGACTCAATCTGCCTAAATCTGAGTTTTCTCAGACTTCTTATCTG
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GACAATATTTGGAATATAATCTGTTTGGGTGGCTGCAAACCAAACATTATCTGTGTTTATATCCAAGCGATGATTTTTTTTCCTTCTGACTTACCTGTGTTTTCTAATTTTTCTATAATGAGCACATATGACTTAATTTTTTTTAGTGCTTAAACACATTTTTTCTACTAGATCAAATAGGAAGTATCTGGTGGAAAATGAAGCTTTTGGTGAGTGGCTTCCTCCAGTTGGCAGCCACAGCGCCCTGTGGGGAGCCCCTCCCAGAGGGTGCAGGGAGTTTGGTTTAGTCCCCTACTCAACTGCCAGTTTGAAATGTTAGTTTGTGAGAGACTCAGGAGATACCAGGGACTCCCCTAGTCCCTCTGTGGCAGGCAGACCTGGGGCCCCGTTGTTTGGAGGTCAGGTACCTGGGGGGGCGGGAGGCCCCCGGCACCCTCGGGGCACTCTGGCAGCATGGTGAGCTTCTCCCTGGTGCTGCACCTGCAGGATGGTGAAGGGTTGACCTGTGTCCATTTCTGCTTCTGGAACAGCTGGGTGATGTTTGGGGACACAGAAGGAGTCTTCCAGGGTGTTGAGTTGCCACAGGGGTACTCCCTCATGGAAGACAAGAAAATATTCCATAATCAGCCTCAAAGTTGCTGACAAATCCCTAGGCATAAGAAATTGTGCCCAACCCTTTCCTCCTCCTCTTTAGACCCAGGCCCTTTCTTCTTATTCTCTTGGAGGCTGGTTTCTGCTCAAGCAATATCAAAACTAGGGTTTTGTGACTGACTAGGTGTGGGGCTGGGGAATAACCATCTCTAGCTTGTGGATCGTTTTGTCTCCCTTTTTATTCCTAGCAGCTCTAGCTGTTGAGAGACACAGCAACCAGAAGAGGAATTTGAAATTAGTCTGTTTTGGTCCTTATTGACAGCTTTGAAAAAGACTGAGGGAGAAAAGTTAAAATTATATTGAACTTTTAGGATTCCTGGTGGATGTCAATGGCCTTCGCTAACTCCCTTCTCCAGACTCACAACTATCACAAAGTACTGGCCACTGTGTCACTCACGCCATTCAAGGCCCAATCACACAATAGCATAACCCTATTTCCCTCCCTCCCTGCTCAGAGGCCTTTCAAATAAGTTATGGGGAATCATCTGTCAACTCAACATAGAACTTCTATGCTGAGAAATATAGAGCTGTCCAGTGGTGTGGGGGCTTCCTAGGAGGTAGTGAATGTCCCTGCACACAAGTGTGGAAGGAGAGGTTGGGGGAGTGCTGGTCAGAGACATGGAAGTGACCAGCAGAGCAGGATTGAGTGGGGCCTCCCCAACGCCTGCCATCTTGAACCCACCGTTGGGTCCTCCCAGGGGAGCTAGTCTTCTTAGGACAGGGGCGCGTAGGCACTTACGGAAGCCACCCTTCCTTCAGGCAGCGGTTGCCAAAGCCTGGCTTATTCAGGAGGACGTCTGCAAGTACCGTGAACTGCTCACTGCCTGGTTCATCCATGCTAGACAGAGTGAGACATGTGACTGGGACAGAGCAGGCGCGTGCCAACATCATGCAACTCAGAGCCTTTACTGGATAGCTGCTGTGTGCCAGGTATGTATTGGAGGCACCGAATGCTGCCTTGGGATGGCGCTAGCTCTCCTGGGAGTGCGGTAGGCTGCCTGAACACTCGCAGTGGTCTGATGGCATGTCACCTATGCCTCAAAAAGATGGCGCTTCAACCCATTCACCTAAGCTTTGCATTCCTTTCCCCATTCGGCCTTCCCAAGCAGTCCTGCCTGTCCACTAGGATCGCCTTTCCAAGCAGTGGCAGATACATTAAGTTCCTTTCTGCAGGCAGCCCAAAGACCCCTCCCCTCTCTCATTGGTGAAGGTCCCAGTGAAGTGGGAAGGTCAGGGCCCTTCTAAGCAGCATGTGACCCAGGTGCCCCAAACCCACAGAGGAGAATGGTGACCCCGAGTCCGCGCACCTGAAGAAGGTGTACTGCTGCCCATATATCCAGGGGTGAAGGGTCAAAGCGGGGTATTCGCCAAAAGGAGGGATAACAATAGAAAGCATCGGAGCCAAAAACACAAAGGTAGCCGGGAGCACGATCTGTGGGAGAATAGACGTGGAATAAACATGACTGTGGCATGGAGATGTCACACGTGCGCGTGCACACACATCTTCATTCTTTTAAACATTTATCCTGCAGCCTCCTAATCAGCCCCTGGTGGAGAGGGTTGGGCTTCTGGGGGAACATAATAAGCAGGGTGTGCAAAGGTAAGATGTGCAGAAGAAAACAGAATGTTCTGGTGGCCACTGAAGAATCTGAATGCAGCCCAGTGTTCAGCCAGACTTCAAAGGGCATTTCAAAGAGCAAGTCACGTGACTCACTGTTCTTTAAACCAGAGCTTCTTTTTCTAAATTAAACAACATTAAAAGAAAAAAGAGGGCAATGATTTTGATATGTAGGGTCACTGCAAAAATGAATGAAAACATGACTTTATCCCTCACTGTAAAAATAAAAACAATATTAACATTTTCACTATTATTCTATTTTCTTTGCTAGGGGAGGTCCAACTTACAAAGAAGATTCATGTTACCAAGAATCAAGATAAGGGTTTGGAAAGCAGGAAACAAAACCAGCAGAATCTAAAGAGGGTGCTCCTTGCTGAGTTATAACCCATGCCTGAAGGAACACTCAGGAGAGGAGGGGAAGGCTGGGAGAGGAGCCACTGAGCTCAGCTAAACACCGACCGACAATAGTACCTGCGCCAGGAAGTCCTTGTGGCTGCGGATGGTGTGTTGGAATCTCTTGACCAGCAGCGCCTGCACATGCTGGAGGACCAGCTGTGTCCCCGTGTTGAGCTGCGGGCCTGGGCACTCTGGCTCTGGGGGAGGCTGGCCCTCTGGGTGAGCAGCCGGCGCCCCTGGGGAGCAGACATTGGAGTCCTGGGGTGTCTGTCCAGCCTTCTCTCTGGGACCCAAGCAGGGGTGTCGGGGGTTGACGTTTTCTCTTTTCTGCTGAGCGCCACCTGTTTTGAGAGATTGAATTAATAATTTGGAAAATGCCTATAAGGTCTGGATCTCTAATGCCATTTTTTTTTTCCCTTACAGCATTGATTTTCCTCTTCATTTAAGTCAGCAATGAAATACCAGGCTGGTAGCTTAATCATCTTTATAAAAATCTATTTCTAGTGTAAATTACTTATACAGAGAAATTGTATAGATTCACCTGAAATTGCCTTAAAATTCTCTATTAACATTAAAGAGAACAAAATAGCTCTAAAAGCATTGACATGGAGAAGTTTAAAATACGTAACTTGGTTAATAAAAAAACAAAACTGGCTGGGCACGGAGGCTCACGCCTGTCATCTCAGCACTTTGGGAGGCTGAGGTGGATGGATCATTTGAGGTCAGCAGTTTGAGACCAGCTTGACCTACATAGTGAAACCCCCTCTCTACAAAAATACAAAAATTAGCCAGGCATGGTGGCAGGCACCTGTAATCCCAACTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCGTAAGCCGAGATTGCAAGACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCTTCTCAAACAGCACAAAGAAAACCAAACAAACAAACAAAAAAACTAAGGTGCTGGTCAATATGTGTAATACACTCACATTTATGTTTAAAATTCATGTTCATGTATCCTACACAAAGAAAAACTGACATCTTATGTACACACACACACATAATTGTAAAACTCTGAAAGAATGTCCACCGACTGTCAGCAGAAGCTCTCCCTGGGGAGGCAGAGTTGGGTAGAAAGGGGAGAGGAAGTGGGAAGCGAGACTTTAGCCTTTTGTGTATTATATGAATTTTTAAACAACAAAATACATTCACCTATTACCTGTGTACTTAAACAAATGAAAAATCAGAGTCGATGTGGTTCTTTCTGAATTCTTAGAGGATACTGAGAAGTGGTAGAAAAAGTAATGAACTAAGAGTTAGGGGACTGAGGTTTGAATATGGATTCTTACAAGATACATAAATTTGGGGAAGTGACTCAATCTGCCTAAATCTGAGTTTTCTCAGACTTCTTATCTG
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Task1_train_1187
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A mutation on Chromosome 1 affecting ABCA4 (ATP binding cassette subfamily A member 4) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; not provided
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TCTTGGAGGCTGGTTTCTGCTCAAGCAATATCAAAACTAGGGTTTTGTGACTGACTAGGTGTGGGGCTGGGGAATAACCATCTCTAGCTTGTGGATCGTTTTGTCTCCCTTTTTATTCCTAGCAGCTCTAGCTGTTGAGAGACACAGCAACCAGAAGAGGAATTTGAAATTAGTCTGTTTTGGTCCTTATTGACAGCTTTGAAAAAGACTGAGGGAGAAAAGTTAAAATTATATTGAACTTTTAGGATTCCTGGTGGATGTCAATGGCCTTCGCTAACTCCCTTCTCCAGACTCACAACTATCACAAAGTACTGGCCACTGTGTCACTCACGCCATTCAAGGCCCAATCACACAATAGCATAACCCTATTTCCCTCCCTCCCTGCTCAGAGGCCTTTCAAATAAGTTATGGGGAATCATCTGTCAACTCAACATAGAACTTCTATGCTGAGAAATATAGAGCTGTCCAGTGGTGTGGGGGCTTCCTAGGAGGTAGTGAATGTCCCTGCACACAAGTGTGGAAGGAGAGGTTGGGGGAGTGCTGGTCAGAGACATGGAAGTGACCAGCAGAGCAGGATTGAGTGGGGCCTCCCCAACGCCTGCCATCTTGAACCCACCGTTGGGTCCTCCCAGGGGAGCTAGTCTTCTTAGGACAGGGGCGCGTAGGCACTTACGGAAGCCACCCTTCCTTCAGGCAGCGGTTGCCAAAGCCTGGCTTATTCAGGAGGACGTCTGCAAGTACCGTGAACTGCTCACTGCCTGGTTCATCCATGCTAGACAGAGTGAGACATGTGACTGGGACAGAGCAGGCGCGTGCCAACATCATGCAACTCAGAGCCTTTACTGGATAGCTGCTGTGTGCCAGGTATGTATTGGAGGCACCGAATGCTGCCTTGGGATGGCGCTAGCTCTCCTGGGAGTGCGGTAGGCTGCCTGAACACTCGCAGTGGTCTGATGGCATGTCACCTATGCCTCAAAAAGATGGCGCTTCAACCCATTCACCTAAGCTTTGCATTCCTTTCCCCATTCGGCCTTCCCAAGCAGTCCTGCCTGTCCACTAGGATCGCCTTTCCAAGCAGTGGCAGATACATTAAGTTCCTTTCTGCAGGCAGCCCAAAGACCCCTCCCCTCTCTCATTGGTGAAGGTCCCAGTGAAGTGGGAAGGTCAGGGCCCTTCTAAGCAGCATGTGACCCAGGTGCCCCAAACCCACAGAGGAGAATGGTGACCCCGAGTCCGCGCACCTGAAGAAGGTGTACTGCTGCCCATATATCCAGGGGTGAAGGGTCAAAGCGGGGTATTCGCCAAAAGGAGGGATAACAATAGAAAGCATCAGAGCCAAAAACACAAAGGTAGCCGGGAGCACGATCTGTGGGAGAATAGACGTGGAATAAACATGACTGTGGCATGGAGATGTCACACGTGCGCGTGCACACACATCTTCATTCTTTTAAACATTTATCCTGCAGCCTCCTAATCAGCCCCTGGTGGAGAGGGTTGGGCTTCTGGGGGAACATAATAAGCAGGGTGTGCAAAGGTAAGATGTGCAGAAGAAAACAGAATGTTCTGGTGGCCACTGAAGAATCTGAATGCAGCCCAGTGTTCAGCCAGACTTCAAAGGGCATTTCAAAGAGCAAGTCACGTGACTCACTGTTCTTTAAACCAGAGCTTCTTTTTCTAAATTAAACAACATTAAAAGAAAAAAGAGGGCAATGATTTTGATATGTAGGGTCACTGCAAAAATGAATGAAAACATGACTTTATCCCTCACTGTAAAAATAAAAACAATATTAACATTTTCACTATTATTCTATTTTCTTTGCTAGGGGAGGTCCAACTTACAAAGAAGATTCATGTTACCAAGAATCAAGATAAGGGTTTGGAAAGCAGGAAACAAAACCAGCAGAATCTAAAGAGGGTGCTCCTTGCTGAGTTATAACCCATGCCTGAAGGAACACTCAGGAGAGGAGGGGAAGGCTGGGAGAGGAGCCACTGAGCTCAGCTAAACACCGACCGACAATAGTACCTGCGCCAGGAAGTCCTTGTGGCTGCGGATGGTGTGTTGGAATCTCTTGACCAGCAGCGCCTGCACATGCTGGAGGACCAGCTGTGTCCCCGTGTTGAGCTGCGGGCCTGGGCACTCTGGCTCTGGGGGAGGCTGGCCCTCTGGGTGAGCAGCCGGCGCCCCTGGGGAGCAGACATTGGAGTCCTGGGGTGTCTGTCCAGCCTTCTCTCTGGGACCCAAGCAGGGGTGTCGGGGGTTGACGTTTTCTCTTTTCTGCTGAGCGCCACCTGTTTTGAGAGATTGAATTAATAATTTGGAAAATGCCTATAAGGTCTGGATCTCTAATGCCATTTTTTTTTTCCCTTACAGCATTGATTTTCCTCTTCATTTAAGTCAGCAATGAAATACCAGGCTGGTAGCTTAATCATCTTTATAAAAATCTATTTCTAGTGTAAATTACTTATACAGAGAAATTGTATAGATTCACCTGAAATTGCCTTAAAATTCTCTATTAACATTAAAGAGAACAAAATAGCTCTAAAAGCATTGACATGGAGAAGTTTAAAATACGTAACTTGGTTAATAAAAAAACAAAACTGGCTGGGCACGGAGGCTCACGCCTGTCATCTCAGCACTTTGGGAGGCTGAGGTGGATGGATCATTTGAGGTCAGCAGTTTGAGACCAGCTTGACCTACATAGTGAAACCCCCTCTCTACAAAAATACAAAAATTAGCCAGGCATGGTGGCAGGCACCTGTAATCCCAACTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCGTAAGCCGAGATTGCAAGACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCTTCTCAAACAGCACAAAGAAAACCAAACAAACAAACAAAAAAACTAAGGTGCTGGTCAATATGTGTAATACACTCACATTTATGTTTAAAATTCATGTTCATGTATCCTACACAAAGAAAAACTGACATCTTATGTACACACACACACATAATTGTAAAACTCTGAAAGAATGTCCACCGACTGTCAGCAGAAGCTCTCCCTGGGGAGGCAGAGTTGGGTAGAAAGGGGAGAGGAAGTGGGAAGCGAGACTTTAGCCTTTTGTGTATTATATGAATTTTTAAACAACAAAATACATTCACCTATTACCTGTGTACTTAAACAAATGAAAAATCAGAGTCGATGTGGTTCTTTCTGAATTCTTAGAGGATACTGAGAAGTGGTAGAAAAAGTAATGAACTAAGAGTTAGGGGACTGAGGTTTGAATATGGATTCTTACAAGATACATAAATTTGGGGAAGTGACTCAATCTGCCTAAATCTGAGTTTTCTCAGACTTCTTATCTGTAAAATGAAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCAGGAGGATTGATTGACCCCAGGAGTTTCAGATCAGCCTGTACAACATAGGGAGACCCTGTCTCTACAAACAACTAGAAAAGAAATTAGCCAGGCACGGTGGCGTGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGACCCCTTGGGCCCAGGAGGTCAAGGCTGCAGTGAGCTATGATCGAGCCGCTGTATTCCAGCCTGGGTGACAGAGCAAAACTCTATCTCAAAAAAAAAAAAAAGAAAAAAAAAAAGAACATTTCACAGGATTGGTTTGGAAATTTAAATGAGATAACACATGGGAGCATGCTCTAGAAACCATTGCAAGTTGTCGGTTATGTTGAAGCTACAGTTTATAGTCACTGATTAATGCTCATTTGCTGAACAACTATTGCTGGACATGGAGAGCCTAGAGGACTGTTGGTTGGTCCCCAGCTGCTTTCTTAACCCTCCTCAAGTCCCCCAGGACAAGGACAGTTGTAAAGGGAATTGGATCAGCTCAGTCATCCTTTCAACTACATTTACCTATGACGTGCCAGGCCTGGGATGCGAAGGCTGGGTGGCAGCCCCAGCCCTGGCACCTGCACTCAGAGGGGCGAAGTTCTGCAGGTTCTCGGTGCCAGAGCCCCAGTTCTGCAGGCTCCTTCTCCTGATC
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TCTTGGAGGCTGGTTTCTGCTCAAGCAATATCAAAACTAGGGTTTTGTGACTGACTAGGTGTGGGGCTGGGGAATAACCATCTCTAGCTTGTGGATCGTTTTGTCTCCCTTTTTATTCCTAGCAGCTCTAGCTGTTGAGAGACACAGCAACCAGAAGAGGAATTTGAAATTAGTCTGTTTTGGTCCTTATTGACAGCTTTGAAAAAGACTGAGGGAGAAAAGTTAAAATTATATTGAACTTTTAGGATTCCTGGTGGATGTCAATGGCCTTCGCTAACTCCCTTCTCCAGACTCACAACTATCACAAAGTACTGGCCACTGTGTCACTCACGCCATTCAAGGCCCAATCACACAATAGCATAACCCTATTTCCCTCCCTCCCTGCTCAGAGGCCTTTCAAATAAGTTATGGGGAATCATCTGTCAACTCAACATAGAACTTCTATGCTGAGAAATATAGAGCTGTCCAGTGGTGTGGGGGCTTCCTAGGAGGTAGTGAATGTCCCTGCACACAAGTGTGGAAGGAGAGGTTGGGGGAGTGCTGGTCAGAGACATGGAAGTGACCAGCAGAGCAGGATTGAGTGGGGCCTCCCCAACGCCTGCCATCTTGAACCCACCGTTGGGTCCTCCCAGGGGAGCTAGTCTTCTTAGGACAGGGGCGCGTAGGCACTTACGGAAGCCACCCTTCCTTCAGGCAGCGGTTGCCAAAGCCTGGCTTATTCAGGAGGACGTCTGCAAGTACCGTGAACTGCTCACTGCCTGGTTCATCCATGCTAGACAGAGTGAGACATGTGACTGGGACAGAGCAGGCGCGTGCCAACATCATGCAACTCAGAGCCTTTACTGGATAGCTGCTGTGTGCCAGGTATGTATTGGAGGCACCGAATGCTGCCTTGGGATGGCGCTAGCTCTCCTGGGAGTGCGGTAGGCTGCCTGAACACTCGCAGTGGTCTGATGGCATGTCACCTATGCCTCAAAAAGATGGCGCTTCAACCCATTCACCTAAGCTTTGCATTCCTTTCCCCATTCGGCCTTCCCAAGCAGTCCTGCCTGTCCACTAGGATCGCCTTTCCAAGCAGTGGCAGATACATTAAGTTCCTTTCTGCAGGCAGCCCAAAGACCCCTCCCCTCTCTCATTGGTGAAGGTCCCAGTGAAGTGGGAAGGTCAGGGCCCTTCTAAGCAGCATGTGACCCAGGTGCCCCAAACCCACAGAGGAGAATGGTGACCCCGAGTCCGCGCACCTGAAGAAGGTGTACTGCTGCCCATATATCCAGGGGTGAAGGGTCAAAGCGGGGTATTCGCCAAAAGGAGGGATAACAATAGAAAGCATCAGAGCCAAAAACACAAAGGTAGCCGGGAGCACGATCTGTGGGAGAATAGACGTGGAATAAACATGACTGTGGCATGGAGATGTCACACGTGCGCGTGCACACACATCTTCATTCTTTTAAACATTTATCCTGCAGCCTCCTAATCAGCCCCTGGTGGAGAGGGTTGGGCTTCTGGGGGAACATAATAAGCAGGGTGTGCAAAGGTAAGATGTGCAGAAGAAAACAGAATGTTCTGGTGGCCACTGAAGAATCTGAATGCAGCCCAGTGTTCAGCCAGACTTCAAAGGGCATTTCAAAGAGCAAGTCACGTGACTCACTGTTCTTTAAACCAGAGCTTCTTTTTCTAAATTAAACAACATTAAAAGAAAAAAGAGGGCAATGATTTTGATATGTAGGGTCACTGCAAAAATGAATGAAAACATGACTTTATCCCTCACTGTAAAAATAAAAACAATATTAACATTTTCACTATTATTCTATTTTCTTTGCTAGGGGAGGTCCAACTTACAAAGAAGATTCATGTTACCAAGAATCAAGATAAGGGTTTGGAAAGCAGGAAACAAAACCAGCAGAATCTAAAGAGGGTGCTCCTTGCTGAGTTATAACCCATGCCTGAAGGAACACTCAGGAGAGGAGGGGAAGGCTGGGAGAGGAGCCACTGAGCTCAGCTAAACACCGACCGACAATAGTACCTGCGCCAGGAAGTCCTTGTGGCTGAGGATGGTGTGTTGGAATCTCTTGACCAGCAGCGCCTGCACATGCTGGAGGACCAGCTGTGTCCCCGTGTTGAGCTGCGGGCCTGGGCACTCTGGCTCTGGGGGAGGCTGGCCCTCTGGGTGAGCAGCCGGCGCCCCTGGGGAGCAGACATTGGAGTCCTGGGGTGTCTGTCCAGCCTTCTCTCTGGGACCCAAGCAGGGGTGTCGGGGGTTGACGTTTTCTCTTTTCTGCTGAGCGCCACCTGTTTTGAGAGATTGAATTAATAATTTGGAAAATGCCTATAAGGTCTGGATCTCTAATGCCATTTTTTTTTTCCCTTACAGCATTGATTTTCCTCTTCATTTAAGTCAGCAATGAAATACCAGGCTGGTAGCTTAATCATCTTTATAAAAATCTATTTCTAGTGTAAATTACTTATACAGAGAAATTGTATAGATTCACCTGAAATTGCCTTAAAATTCTCTATTAACATTAAAGAGAACAAAATAGCTCTAAAAGCATTGACATGGAGAAGTTTAAAATACGTAACTTGGTTAATAAAAAAACAAAACTGGCTGGGCACGGAGGCTCACGCCTGTCATCTCAGCACTTTGGGAGGCTGAGGTGGATGGATCATTTGAGGTCAGCAGTTTGAGACCAGCTTGACCTACATAGTGAAACCCCCTCTCTACAAAAATACAAAAATTAGCCAGGCATGGTGGCAGGCACCTGTAATCCCAACTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCGTAAGCCGAGATTGCAAGACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCTTCTCAAACAGCACAAAGAAAACCAAACAAACAAACAAAAAAACTAAGGTGCTGGTCAATATGTGTAATACACTCACATTTATGTTTAAAATTCATGTTCATGTATCCTACACAAAGAAAAACTGACATCTTATGTACACACACACACATAATTGTAAAACTCTGAAAGAATGTCCACCGACTGTCAGCAGAAGCTCTCCCTGGGGAGGCAGAGTTGGGTAGAAAGGGGAGAGGAAGTGGGAAGCGAGACTTTAGCCTTTTGTGTATTATATGAATTTTTAAACAACAAAATACATTCACCTATTACCTGTGTACTTAAACAAATGAAAAATCAGAGTCGATGTGGTTCTTTCTGAATTCTTAGAGGATACTGAGAAGTGGTAGAAAAAGTAATGAACTAAGAGTTAGGGGACTGAGGTTTGAATATGGATTCTTACAAGATACATAAATTTGGGGAAGTGACTCAATCTGCCTAAATCTGAGTTTTCTCAGACTTCTTATCTGTAAAATGAAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCAGGAGGATTGATTGACCCCAGGAGTTTCAGATCAGCCTGTACAACATAGGGAGACCCTGTCTCTACAAACAACTAGAAAAGAAATTAGCCAGGCACGGTGGCGTGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGACCCCTTGGGCCCAGGAGGTCAAGGCTGCAGTGAGCTATGATCGAGCCGCTGTATTCCAGCCTGGGTGACAGAGCAAAACTCTATCTCAAAAAAAAAAAAAAGAAAAAAAAAAAGAACATTTCACAGGATTGGTTTGGAAATTTAAATGAGATAACACATGGGAGCATGCTCTAGAAACCATTGCAAGTTGTCGGTTATGTTGAAGCTACAGTTTATAGTCACTGATTAATGCTCATTTGCTGAACAACTATTGCTGGACATGGAGAGCCTAGAGGACTGTTGGTTGGTCCCCAGCTGCTTTCTTAACCCTCCTCAAGTCCCCCAGGACAAGGACAGTTGTAAAGGGAATTGGATCAGCTCAGTCATCCTTTCAACTACATTTACCTATGACGTGCCAGGCCTGGGATGCGAAGGCTGGGTGGCAGCCCCAGCCCTGGCACCTGCACTCAGAGGGGCGAAGTTCTGCAGGTTCTCGGTGCCAGAGCCCCAGTTCTGCAGGCTCCTTCTCCTGATC
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Task1_train_1188
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A variant has been detected on Chromosome 1 in ABCA4 (ATP binding cassette subfamily A member 4). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Stargardt disease
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CTTGGAGGCTGGTTTCTGCTCAAGCAATATCAAAACTAGGGTTTTGTGACTGACTAGGTGTGGGGCTGGGGAATAACCATCTCTAGCTTGTGGATCGTTTTGTCTCCCTTTTTATTCCTAGCAGCTCTAGCTGTTGAGAGACACAGCAACCAGAAGAGGAATTTGAAATTAGTCTGTTTTGGTCCTTATTGACAGCTTTGAAAAAGACTGAGGGAGAAAAGTTAAAATTATATTGAACTTTTAGGATTCCTGGTGGATGTCAATGGCCTTCGCTAACTCCCTTCTCCAGACTCACAACTATCACAAAGTACTGGCCACTGTGTCACTCACGCCATTCAAGGCCCAATCACACAATAGCATAACCCTATTTCCCTCCCTCCCTGCTCAGAGGCCTTTCAAATAAGTTATGGGGAATCATCTGTCAACTCAACATAGAACTTCTATGCTGAGAAATATAGAGCTGTCCAGTGGTGTGGGGGCTTCCTAGGAGGTAGTGAATGTCCCTGCACACAAGTGTGGAAGGAGAGGTTGGGGGAGTGCTGGTCAGAGACATGGAAGTGACCAGCAGAGCAGGATTGAGTGGGGCCTCCCCAACGCCTGCCATCTTGAACCCACCGTTGGGTCCTCCCAGGGGAGCTAGTCTTCTTAGGACAGGGGCGCGTAGGCACTTACGGAAGCCACCCTTCCTTCAGGCAGCGGTTGCCAAAGCCTGGCTTATTCAGGAGGACGTCTGCAAGTACCGTGAACTGCTCACTGCCTGGTTCATCCATGCTAGACAGAGTGAGACATGTGACTGGGACAGAGCAGGCGCGTGCCAACATCATGCAACTCAGAGCCTTTACTGGATAGCTGCTGTGTGCCAGGTATGTATTGGAGGCACCGAATGCTGCCTTGGGATGGCGCTAGCTCTCCTGGGAGTGCGGTAGGCTGCCTGAACACTCGCAGTGGTCTGATGGCATGTCACCTATGCCTCAAAAAGATGGCGCTTCAACCCATTCACCTAAGCTTTGCATTCCTTTCCCCATTCGGCCTTCCCAAGCAGTCCTGCCTGTCCACTAGGATCGCCTTTCCAAGCAGTGGCAGATACATTAAGTTCCTTTCTGCAGGCAGCCCAAAGACCCCTCCCCTCTCTCATTGGTGAAGGTCCCAGTGAAGTGGGAAGGTCAGGGCCCTTCTAAGCAGCATGTGACCCAGGTGCCCCAAACCCACAGAGGAGAATGGTGACCCCGAGTCCGCGCACCTGAAGAAGGTGTACTGCTGCCCATATATCCAGGGGTGAAGGGTCAAAGCGGGGTATTCGCCAAAAGGAGGGATAACAATAGAAAGCATCAGAGCCAAAAACACAAAGGTAGCCGGGAGCACGATCTGTGGGAGAATAGACGTGGAATAAACATGACTGTGGCATGGAGATGTCACACGTGCGCGTGCACACACATCTTCATTCTTTTAAACATTTATCCTGCAGCCTCCTAATCAGCCCCTGGTGGAGAGGGTTGGGCTTCTGGGGGAACATAATAAGCAGGGTGTGCAAAGGTAAGATGTGCAGAAGAAAACAGAATGTTCTGGTGGCCACTGAAGAATCTGAATGCAGCCCAGTGTTCAGCCAGACTTCAAAGGGCATTTCAAAGAGCAAGTCACGTGACTCACTGTTCTTTAAACCAGAGCTTCTTTTTCTAAATTAAACAACATTAAAAGAAAAAAGAGGGCAATGATTTTGATATGTAGGGTCACTGCAAAAATGAATGAAAACATGACTTTATCCCTCACTGTAAAAATAAAAACAATATTAACATTTTCACTATTATTCTATTTTCTTTGCTAGGGGAGGTCCAACTTACAAAGAAGATTCATGTTACCAAGAATCAAGATAAGGGTTTGGAAAGCAGGAAACAAAACCAGCAGAATCTAAAGAGGGTGCTCCTTGCTGAGTTATAACCCATGCCTGAAGGAACACTCAGGAGAGGAGGGGAAGGCTGGGAGAGGAGCCACTGAGCTCAGCTAAACACCGACCGACAATAGTACCTGCGCCAGGAAGTCCTTGTGGCTGCGGATGGTGTGTTGGAATCTCTTGACCAGCAGCGCCTGCACATGCTGGAGGACCAGCTGTGTCCCCGTGTTGAGCTGCGGGCCTGGGCACTCTGGCTCTGGGGGAGGCTGGCCCTCTGGGTGAGCAGCCGGCGCCCCTGGGGAGCAGACATTGGAGTCCTGGGGTGTCTGTCCAGCCTTCTCTCTGGGACCCAAGCAGGGGTGTCGGGGGTTGACGTTTTCTCTTTTCTGCTGAGCGCCACCTGTTTTGAGAGATTGAATTAATAATTTGGAAAATGCCTATAAGGTCTGGATCTCTAATGCCATTTTTTTTTTCCCTTACAGCATTGATTTTCCTCTTCATTTAAGTCAGCAATGAAATACCAGGCTGGTAGCTTAATCATCTTTATAAAAATCTATTTCTAGTGTAAATTACTTATACAGAGAAATTGTATAGATTCACCTGAAATTGCCTTAAAATTCTCTATTAACATTAAAGAGAACAAAATAGCTCTAAAAGCATTGACATGGAGAAGTTTAAAATACGTAACTTGGTTAATAAAAAAACAAAACTGGCTGGGCACGGAGGCTCACGCCTGTCATCTCAGCACTTTGGGAGGCTGAGGTGGATGGATCATTTGAGGTCAGCAGTTTGAGACCAGCTTGACCTACATAGTGAAACCCCCTCTCTACAAAAATACAAAAATTAGCCAGGCATGGTGGCAGGCACCTGTAATCCCAACTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCGTAAGCCGAGATTGCAAGACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCTTCTCAAACAGCACAAAGAAAACCAAACAAACAAACAAAAAAACTAAGGTGCTGGTCAATATGTGTAATACACTCACATTTATGTTTAAAATTCATGTTCATGTATCCTACACAAAGAAAAACTGACATCTTATGTACACACACACACATAATTGTAAAACTCTGAAAGAATGTCCACCGACTGTCAGCAGAAGCTCTCCCTGGGGAGGCAGAGTTGGGTAGAAAGGGGAGAGGAAGTGGGAAGCGAGACTTTAGCCTTTTGTGTATTATATGAATTTTTAAACAACAAAATACATTCACCTATTACCTGTGTACTTAAACAAATGAAAAATCAGAGTCGATGTGGTTCTTTCTGAATTCTTAGAGGATACTGAGAAGTGGTAGAAAAAGTAATGAACTAAGAGTTAGGGGACTGAGGTTTGAATATGGATTCTTACAAGATACATAAATTTGGGGAAGTGACTCAATCTGCCTAAATCTGAGTTTTCTCAGACTTCTTATCTGTAAAATGAAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCAGGAGGATTGATTGACCCCAGGAGTTTCAGATCAGCCTGTACAACATAGGGAGACCCTGTCTCTACAAACAACTAGAAAAGAAATTAGCCAGGCACGGTGGCGTGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGACCCCTTGGGCCCAGGAGGTCAAGGCTGCAGTGAGCTATGATCGAGCCGCTGTATTCCAGCCTGGGTGACAGAGCAAAACTCTATCTCAAAAAAAAAAAAAAGAAAAAAAAAAAGAACATTTCACAGGATTGGTTTGGAAATTTAAATGAGATAACACATGGGAGCATGCTCTAGAAACCATTGCAAGTTGTCGGTTATGTTGAAGCTACAGTTTATAGTCACTGATTAATGCTCATTTGCTGAACAACTATTGCTGGACATGGAGAGCCTAGAGGACTGTTGGTTGGTCCCCAGCTGCTTTCTTAACCCTCCTCAAGTCCCCCAGGACAAGGACAGTTGTAAAGGGAATTGGATCAGCTCAGTCATCCTTTCAACTACATTTACCTATGACGTGCCAGGCCTGGGATGCGAAGGCTGGGTGGCAGCCCCAGCCCTGGCACCTGCACTCAGAGGGGCGAAGTTCTGCAGGTTCTCGGTGCCAGAGCCCCAGTTCTGCAGGCTCCTTCTCCTGATCC
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CTTGGAGGCTGGTTTCTGCTCAAGCAATATCAAAACTAGGGTTTTGTGACTGACTAGGTGTGGGGCTGGGGAATAACCATCTCTAGCTTGTGGATCGTTTTGTCTCCCTTTTTATTCCTAGCAGCTCTAGCTGTTGAGAGACACAGCAACCAGAAGAGGAATTTGAAATTAGTCTGTTTTGGTCCTTATTGACAGCTTTGAAAAAGACTGAGGGAGAAAAGTTAAAATTATATTGAACTTTTAGGATTCCTGGTGGATGTCAATGGCCTTCGCTAACTCCCTTCTCCAGACTCACAACTATCACAAAGTACTGGCCACTGTGTCACTCACGCCATTCAAGGCCCAATCACACAATAGCATAACCCTATTTCCCTCCCTCCCTGCTCAGAGGCCTTTCAAATAAGTTATGGGGAATCATCTGTCAACTCAACATAGAACTTCTATGCTGAGAAATATAGAGCTGTCCAGTGGTGTGGGGGCTTCCTAGGAGGTAGTGAATGTCCCTGCACACAAGTGTGGAAGGAGAGGTTGGGGGAGTGCTGGTCAGAGACATGGAAGTGACCAGCAGAGCAGGATTGAGTGGGGCCTCCCCAACGCCTGCCATCTTGAACCCACCGTTGGGTCCTCCCAGGGGAGCTAGTCTTCTTAGGACAGGGGCGCGTAGGCACTTACGGAAGCCACCCTTCCTTCAGGCAGCGGTTGCCAAAGCCTGGCTTATTCAGGAGGACGTCTGCAAGTACCGTGAACTGCTCACTGCCTGGTTCATCCATGCTAGACAGAGTGAGACATGTGACTGGGACAGAGCAGGCGCGTGCCAACATCATGCAACTCAGAGCCTTTACTGGATAGCTGCTGTGTGCCAGGTATGTATTGGAGGCACCGAATGCTGCCTTGGGATGGCGCTAGCTCTCCTGGGAGTGCGGTAGGCTGCCTGAACACTCGCAGTGGTCTGATGGCATGTCACCTATGCCTCAAAAAGATGGCGCTTCAACCCATTCACCTAAGCTTTGCATTCCTTTCCCCATTCGGCCTTCCCAAGCAGTCCTGCCTGTCCACTAGGATCGCCTTTCCAAGCAGTGGCAGATACATTAAGTTCCTTTCTGCAGGCAGCCCAAAGACCCCTCCCCTCTCTCATTGGTGAAGGTCCCAGTGAAGTGGGAAGGTCAGGGCCCTTCTAAGCAGCATGTGACCCAGGTGCCCCAAACCCACAGAGGAGAATGGTGACCCCGAGTCCGCGCACCTGAAGAAGGTGTACTGCTGCCCATATATCCAGGGGTGAAGGGTCAAAGCGGGGTATTCGCCAAAAGGAGGGATAACAATAGAAAGCATCAGAGCCAAAAACACAAAGGTAGCCGGGAGCACGATCTGTGGGAGAATAGACGTGGAATAAACATGACTGTGGCATGGAGATGTCACACGTGCGCGTGCACACACATCTTCATTCTTTTAAACATTTATCCTGCAGCCTCCTAATCAGCCCCTGGTGGAGAGGGTTGGGCTTCTGGGGGAACATAATAAGCAGGGTGTGCAAAGGTAAGATGTGCAGAAGAAAACAGAATGTTCTGGTGGCCACTGAAGAATCTGAATGCAGCCCAGTGTTCAGCCAGACTTCAAAGGGCATTTCAAAGAGCAAGTCACGTGACTCACTGTTCTTTAAACCAGAGCTTCTTTTTCTAAATTAAACAACATTAAAAGAAAAAAGAGGGCAATGATTTTGATATGTAGGGTCACTGCAAAAATGAATGAAAACATGACTTTATCCCTCACTGTAAAAATAAAAACAATATTAACATTTTCACTATTATTCTATTTTCTTTGCTAGGGGAGGTCCAACTTACAAAGAAGATTCATGTTACCAAGAATCAAGATAAGGGTTTGGAAAGCAGGAAACAAAACCAGCAGAATCTAAAGAGGGTGCTCCTTGCTGAGTTATAACCCATGCCTGAAGGAACACTCAGGAGAGGAGGGGAAGGCTGGGAGAGGAGCCACTGAGCTCAGCTAAACACCGACCGACAATAGTACCTGCGCCAGGAAGTCCTTGTGGCTGCAGATGGTGTGTTGGAATCTCTTGACCAGCAGCGCCTGCACATGCTGGAGGACCAGCTGTGTCCCCGTGTTGAGCTGCGGGCCTGGGCACTCTGGCTCTGGGGGAGGCTGGCCCTCTGGGTGAGCAGCCGGCGCCCCTGGGGAGCAGACATTGGAGTCCTGGGGTGTCTGTCCAGCCTTCTCTCTGGGACCCAAGCAGGGGTGTCGGGGGTTGACGTTTTCTCTTTTCTGCTGAGCGCCACCTGTTTTGAGAGATTGAATTAATAATTTGGAAAATGCCTATAAGGTCTGGATCTCTAATGCCATTTTTTTTTTCCCTTACAGCATTGATTTTCCTCTTCATTTAAGTCAGCAATGAAATACCAGGCTGGTAGCTTAATCATCTTTATAAAAATCTATTTCTAGTGTAAATTACTTATACAGAGAAATTGTATAGATTCACCTGAAATTGCCTTAAAATTCTCTATTAACATTAAAGAGAACAAAATAGCTCTAAAAGCATTGACATGGAGAAGTTTAAAATACGTAACTTGGTTAATAAAAAAACAAAACTGGCTGGGCACGGAGGCTCACGCCTGTCATCTCAGCACTTTGGGAGGCTGAGGTGGATGGATCATTTGAGGTCAGCAGTTTGAGACCAGCTTGACCTACATAGTGAAACCCCCTCTCTACAAAAATACAAAAATTAGCCAGGCATGGTGGCAGGCACCTGTAATCCCAACTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCGTAAGCCGAGATTGCAAGACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCTTCTCAAACAGCACAAAGAAAACCAAACAAACAAACAAAAAAACTAAGGTGCTGGTCAATATGTGTAATACACTCACATTTATGTTTAAAATTCATGTTCATGTATCCTACACAAAGAAAAACTGACATCTTATGTACACACACACACATAATTGTAAAACTCTGAAAGAATGTCCACCGACTGTCAGCAGAAGCTCTCCCTGGGGAGGCAGAGTTGGGTAGAAAGGGGAGAGGAAGTGGGAAGCGAGACTTTAGCCTTTTGTGTATTATATGAATTTTTAAACAACAAAATACATTCACCTATTACCTGTGTACTTAAACAAATGAAAAATCAGAGTCGATGTGGTTCTTTCTGAATTCTTAGAGGATACTGAGAAGTGGTAGAAAAAGTAATGAACTAAGAGTTAGGGGACTGAGGTTTGAATATGGATTCTTACAAGATACATAAATTTGGGGAAGTGACTCAATCTGCCTAAATCTGAGTTTTCTCAGACTTCTTATCTGTAAAATGAAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCAGGAGGATTGATTGACCCCAGGAGTTTCAGATCAGCCTGTACAACATAGGGAGACCCTGTCTCTACAAACAACTAGAAAAGAAATTAGCCAGGCACGGTGGCGTGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGACCCCTTGGGCCCAGGAGGTCAAGGCTGCAGTGAGCTATGATCGAGCCGCTGTATTCCAGCCTGGGTGACAGAGCAAAACTCTATCTCAAAAAAAAAAAAAAGAAAAAAAAAAAGAACATTTCACAGGATTGGTTTGGAAATTTAAATGAGATAACACATGGGAGCATGCTCTAGAAACCATTGCAAGTTGTCGGTTATGTTGAAGCTACAGTTTATAGTCACTGATTAATGCTCATTTGCTGAACAACTATTGCTGGACATGGAGAGCCTAGAGGACTGTTGGTTGGTCCCCAGCTGCTTTCTTAACCCTCCTCAAGTCCCCCAGGACAAGGACAGTTGTAAAGGGAATTGGATCAGCTCAGTCATCCTTTCAACTACATTTACCTATGACGTGCCAGGCCTGGGATGCGAAGGCTGGGTGGCAGCCCCAGCCCTGGCACCTGCACTCAGAGGGGCGAAGTTCTGCAGGTTCTCGGTGCCAGAGCCCCAGTTCTGCAGGCTCCTTCTCCTGATCC
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Task1_train_1189
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This variant lies on Chromosome 1 and affects the gene ABCA4 (ATP binding cassette subfamily A member 4). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Retinal dystrophy
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CTTGGAGGCTGGTTTCTGCTCAAGCAATATCAAAACTAGGGTTTTGTGACTGACTAGGTGTGGGGCTGGGGAATAACCATCTCTAGCTTGTGGATCGTTTTGTCTCCCTTTTTATTCCTAGCAGCTCTAGCTGTTGAGAGACACAGCAACCAGAAGAGGAATTTGAAATTAGTCTGTTTTGGTCCTTATTGACAGCTTTGAAAAAGACTGAGGGAGAAAAGTTAAAATTATATTGAACTTTTAGGATTCCTGGTGGATGTCAATGGCCTTCGCTAACTCCCTTCTCCAGACTCACAACTATCACAAAGTACTGGCCACTGTGTCACTCACGCCATTCAAGGCCCAATCACACAATAGCATAACCCTATTTCCCTCCCTCCCTGCTCAGAGGCCTTTCAAATAAGTTATGGGGAATCATCTGTCAACTCAACATAGAACTTCTATGCTGAGAAATATAGAGCTGTCCAGTGGTGTGGGGGCTTCCTAGGAGGTAGTGAATGTCCCTGCACACAAGTGTGGAAGGAGAGGTTGGGGGAGTGCTGGTCAGAGACATGGAAGTGACCAGCAGAGCAGGATTGAGTGGGGCCTCCCCAACGCCTGCCATCTTGAACCCACCGTTGGGTCCTCCCAGGGGAGCTAGTCTTCTTAGGACAGGGGCGCGTAGGCACTTACGGAAGCCACCCTTCCTTCAGGCAGCGGTTGCCAAAGCCTGGCTTATTCAGGAGGACGTCTGCAAGTACCGTGAACTGCTCACTGCCTGGTTCATCCATGCTAGACAGAGTGAGACATGTGACTGGGACAGAGCAGGCGCGTGCCAACATCATGCAACTCAGAGCCTTTACTGGATAGCTGCTGTGTGCCAGGTATGTATTGGAGGCACCGAATGCTGCCTTGGGATGGCGCTAGCTCTCCTGGGAGTGCGGTAGGCTGCCTGAACACTCGCAGTGGTCTGATGGCATGTCACCTATGCCTCAAAAAGATGGCGCTTCAACCCATTCACCTAAGCTTTGCATTCCTTTCCCCATTCGGCCTTCCCAAGCAGTCCTGCCTGTCCACTAGGATCGCCTTTCCAAGCAGTGGCAGATACATTAAGTTCCTTTCTGCAGGCAGCCCAAAGACCCCTCCCCTCTCTCATTGGTGAAGGTCCCAGTGAAGTGGGAAGGTCAGGGCCCTTCTAAGCAGCATGTGACCCAGGTGCCCCAAACCCACAGAGGAGAATGGTGACCCCGAGTCCGCGCACCTGAAGAAGGTGTACTGCTGCCCATATATCCAGGGGTGAAGGGTCAAAGCGGGGTATTCGCCAAAAGGAGGGATAACAATAGAAAGCATCAGAGCCAAAAACACAAAGGTAGCCGGGAGCACGATCTGTGGGAGAATAGACGTGGAATAAACATGACTGTGGCATGGAGATGTCACACGTGCGCGTGCACACACATCTTCATTCTTTTAAACATTTATCCTGCAGCCTCCTAATCAGCCCCTGGTGGAGAGGGTTGGGCTTCTGGGGGAACATAATAAGCAGGGTGTGCAAAGGTAAGATGTGCAGAAGAAAACAGAATGTTCTGGTGGCCACTGAAGAATCTGAATGCAGCCCAGTGTTCAGCCAGACTTCAAAGGGCATTTCAAAGAGCAAGTCACGTGACTCACTGTTCTTTAAACCAGAGCTTCTTTTTCTAAATTAAACAACATTAAAAGAAAAAAGAGGGCAATGATTTTGATATGTAGGGTCACTGCAAAAATGAATGAAAACATGACTTTATCCCTCACTGTAAAAATAAAAACAATATTAACATTTTCACTATTATTCTATTTTCTTTGCTAGGGGAGGTCCAACTTACAAAGAAGATTCATGTTACCAAGAATCAAGATAAGGGTTTGGAAAGCAGGAAACAAAACCAGCAGAATCTAAAGAGGGTGCTCCTTGCTGAGTTATAACCCATGCCTGAAGGAACACTCAGGAGAGGAGGGGAAGGCTGGGAGAGGAGCCACTGAGCTCAGCTAAACACCGACCGACAATAGTACCTGCGCCAGGAAGTCCTTGTGGCTGCGGATGGTGTGTTGGAATCTCTTGACCAGCAGCGCCTGCACATGCTGGAGGACCAGCTGTGTCCCCGTGTTGAGCTGCGGGCCTGGGCACTCTGGCTCTGGGGGAGGCTGGCCCTCTGGGTGAGCAGCCGGCGCCCCTGGGGAGCAGACATTGGAGTCCTGGGGTGTCTGTCCAGCCTTCTCTCTGGGACCCAAGCAGGGGTGTCGGGGGTTGACGTTTTCTCTTTTCTGCTGAGCGCCACCTGTTTTGAGAGATTGAATTAATAATTTGGAAAATGCCTATAAGGTCTGGATCTCTAATGCCATTTTTTTTTTCCCTTACAGCATTGATTTTCCTCTTCATTTAAGTCAGCAATGAAATACCAGGCTGGTAGCTTAATCATCTTTATAAAAATCTATTTCTAGTGTAAATTACTTATACAGAGAAATTGTATAGATTCACCTGAAATTGCCTTAAAATTCTCTATTAACATTAAAGAGAACAAAATAGCTCTAAAAGCATTGACATGGAGAAGTTTAAAATACGTAACTTGGTTAATAAAAAAACAAAACTGGCTGGGCACGGAGGCTCACGCCTGTCATCTCAGCACTTTGGGAGGCTGAGGTGGATGGATCATTTGAGGTCAGCAGTTTGAGACCAGCTTGACCTACATAGTGAAACCCCCTCTCTACAAAAATACAAAAATTAGCCAGGCATGGTGGCAGGCACCTGTAATCCCAACTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCGTAAGCCGAGATTGCAAGACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCTTCTCAAACAGCACAAAGAAAACCAAACAAACAAACAAAAAAACTAAGGTGCTGGTCAATATGTGTAATACACTCACATTTATGTTTAAAATTCATGTTCATGTATCCTACACAAAGAAAAACTGACATCTTATGTACACACACACACATAATTGTAAAACTCTGAAAGAATGTCCACCGACTGTCAGCAGAAGCTCTCCCTGGGGAGGCAGAGTTGGGTAGAAAGGGGAGAGGAAGTGGGAAGCGAGACTTTAGCCTTTTGTGTATTATATGAATTTTTAAACAACAAAATACATTCACCTATTACCTGTGTACTTAAACAAATGAAAAATCAGAGTCGATGTGGTTCTTTCTGAATTCTTAGAGGATACTGAGAAGTGGTAGAAAAAGTAATGAACTAAGAGTTAGGGGACTGAGGTTTGAATATGGATTCTTACAAGATACATAAATTTGGGGAAGTGACTCAATCTGCCTAAATCTGAGTTTTCTCAGACTTCTTATCTGTAAAATGAAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCAGGAGGATTGATTGACCCCAGGAGTTTCAGATCAGCCTGTACAACATAGGGAGACCCTGTCTCTACAAACAACTAGAAAAGAAATTAGCCAGGCACGGTGGCGTGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGACCCCTTGGGCCCAGGAGGTCAAGGCTGCAGTGAGCTATGATCGAGCCGCTGTATTCCAGCCTGGGTGACAGAGCAAAACTCTATCTCAAAAAAAAAAAAAAGAAAAAAAAAAAGAACATTTCACAGGATTGGTTTGGAAATTTAAATGAGATAACACATGGGAGCATGCTCTAGAAACCATTGCAAGTTGTCGGTTATGTTGAAGCTACAGTTTATAGTCACTGATTAATGCTCATTTGCTGAACAACTATTGCTGGACATGGAGAGCCTAGAGGACTGTTGGTTGGTCCCCAGCTGCTTTCTTAACCCTCCTCAAGTCCCCCAGGACAAGGACAGTTGTAAAGGGAATTGGATCAGCTCAGTCATCCTTTCAACTACATTTACCTATGACGTGCCAGGCCTGGGATGCGAAGGCTGGGTGGCAGCCCCAGCCCTGGCACCTGCACTCAGAGGGGCGAAGTTCTGCAGGTTCTCGGTGCCAGAGCCCCAGTTCTGCAGGCTCCTTCTCCTGATCC
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CTTGGAGGCTGGTTTCTGCTCAAGCAATATCAAAACTAGGGTTTTGTGACTGACTAGGTGTGGGGCTGGGGAATAACCATCTCTAGCTTGTGGATCGTTTTGTCTCCCTTTTTATTCCTAGCAGCTCTAGCTGTTGAGAGACACAGCAACCAGAAGAGGAATTTGAAATTAGTCTGTTTTGGTCCTTATTGACAGCTTTGAAAAAGACTGAGGGAGAAAAGTTAAAATTATATTGAACTTTTAGGATTCCTGGTGGATGTCAATGGCCTTCGCTAACTCCCTTCTCCAGACTCACAACTATCACAAAGTACTGGCCACTGTGTCACTCACGCCATTCAAGGCCCAATCACACAATAGCATAACCCTATTTCCCTCCCTCCCTGCTCAGAGGCCTTTCAAATAAGTTATGGGGAATCATCTGTCAACTCAACATAGAACTTCTATGCTGAGAAATATAGAGCTGTCCAGTGGTGTGGGGGCTTCCTAGGAGGTAGTGAATGTCCCTGCACACAAGTGTGGAAGGAGAGGTTGGGGGAGTGCTGGTCAGAGACATGGAAGTGACCAGCAGAGCAGGATTGAGTGGGGCCTCCCCAACGCCTGCCATCTTGAACCCACCGTTGGGTCCTCCCAGGGGAGCTAGTCTTCTTAGGACAGGGGCGCGTAGGCACTTACGGAAGCCACCCTTCCTTCAGGCAGCGGTTGCCAAAGCCTGGCTTATTCAGGAGGACGTCTGCAAGTACCGTGAACTGCTCACTGCCTGGTTCATCCATGCTAGACAGAGTGAGACATGTGACTGGGACAGAGCAGGCGCGTGCCAACATCATGCAACTCAGAGCCTTTACTGGATAGCTGCTGTGTGCCAGGTATGTATTGGAGGCACCGAATGCTGCCTTGGGATGGCGCTAGCTCTCCTGGGAGTGCGGTAGGCTGCCTGAACACTCGCAGTGGTCTGATGGCATGTCACCTATGCCTCAAAAAGATGGCGCTTCAACCCATTCACCTAAGCTTTGCATTCCTTTCCCCATTCGGCCTTCCCAAGCAGTCCTGCCTGTCCACTAGGATCGCCTTTCCAAGCAGTGGCAGATACATTAAGTTCCTTTCTGCAGGCAGCCCAAAGACCCCTCCCCTCTCTCATTGGTGAAGGTCCCAGTGAAGTGGGAAGGTCAGGGCCCTTCTAAGCAGCATGTGACCCAGGTGCCCCAAACCCACAGAGGAGAATGGTGACCCCGAGTCCGCGCACCTGAAGAAGGTGTACTGCTGCCCATATATCCAGGGGTGAAGGGTCAAAGCGGGGTATTCGCCAAAAGGAGGGATAACAATAGAAAGCATCAGAGCCAAAAACACAAAGGTAGCCGGGAGCACGATCTGTGGGAGAATAGACGTGGAATAAACATGACTGTGGCATGGAGATGTCACACGTGCGCGTGCACACACATCTTCATTCTTTTAAACATTTATCCTGCAGCCTCCTAATCAGCCCCTGGTGGAGAGGGTTGGGCTTCTGGGGGAACATAATAAGCAGGGTGTGCAAAGGTAAGATGTGCAGAAGAAAACAGAATGTTCTGGTGGCCACTGAAGAATCTGAATGCAGCCCAGTGTTCAGCCAGACTTCAAAGGGCATTTCAAAGAGCAAGTCACGTGACTCACTGTTCTTTAAACCAGAGCTTCTTTTTCTAAATTAAACAACATTAAAAGAAAAAAGAGGGCAATGATTTTGATATGTAGGGTCACTGCAAAAATGAATGAAAACATGACTTTATCCCTCACTGTAAAAATAAAAACAATATTAACATTTTCACTATTATTCTATTTTCTTTGCTAGGGGAGGTCCAACTTACAAAGAAGATTCATGTTACCAAGAATCAAGATAAGGGTTTGGAAAGCAGGAAACAAAACCAGCAGAATCTAAAGAGGGTGCTCCTTGCTGAGTTATAACCCATGCCTGAAGGAACACTCAGGAGAGGAGGGGAAGGCTGGGAGAGGAGCCACTGAGCTCAGCTAAACACCGACCGACAATAGTACCTGCGCCAGGAAGTCCTTGTGGCTGCAGATGGTGTGTTGGAATCTCTTGACCAGCAGCGCCTGCACATGCTGGAGGACCAGCTGTGTCCCCGTGTTGAGCTGCGGGCCTGGGCACTCTGGCTCTGGGGGAGGCTGGCCCTCTGGGTGAGCAGCCGGCGCCCCTGGGGAGCAGACATTGGAGTCCTGGGGTGTCTGTCCAGCCTTCTCTCTGGGACCCAAGCAGGGGTGTCGGGGGTTGACGTTTTCTCTTTTCTGCTGAGCGCCACCTGTTTTGAGAGATTGAATTAATAATTTGGAAAATGCCTATAAGGTCTGGATCTCTAATGCCATTTTTTTTTTCCCTTACAGCATTGATTTTCCTCTTCATTTAAGTCAGCAATGAAATACCAGGCTGGTAGCTTAATCATCTTTATAAAAATCTATTTCTAGTGTAAATTACTTATACAGAGAAATTGTATAGATTCACCTGAAATTGCCTTAAAATTCTCTATTAACATTAAAGAGAACAAAATAGCTCTAAAAGCATTGACATGGAGAAGTTTAAAATACGTAACTTGGTTAATAAAAAAACAAAACTGGCTGGGCACGGAGGCTCACGCCTGTCATCTCAGCACTTTGGGAGGCTGAGGTGGATGGATCATTTGAGGTCAGCAGTTTGAGACCAGCTTGACCTACATAGTGAAACCCCCTCTCTACAAAAATACAAAAATTAGCCAGGCATGGTGGCAGGCACCTGTAATCCCAACTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCGTAAGCCGAGATTGCAAGACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCTTCTCAAACAGCACAAAGAAAACCAAACAAACAAACAAAAAAACTAAGGTGCTGGTCAATATGTGTAATACACTCACATTTATGTTTAAAATTCATGTTCATGTATCCTACACAAAGAAAAACTGACATCTTATGTACACACACACACATAATTGTAAAACTCTGAAAGAATGTCCACCGACTGTCAGCAGAAGCTCTCCCTGGGGAGGCAGAGTTGGGTAGAAAGGGGAGAGGAAGTGGGAAGCGAGACTTTAGCCTTTTGTGTATTATATGAATTTTTAAACAACAAAATACATTCACCTATTACCTGTGTACTTAAACAAATGAAAAATCAGAGTCGATGTGGTTCTTTCTGAATTCTTAGAGGATACTGAGAAGTGGTAGAAAAAGTAATGAACTAAGAGTTAGGGGACTGAGGTTTGAATATGGATTCTTACAAGATACATAAATTTGGGGAAGTGACTCAATCTGCCTAAATCTGAGTTTTCTCAGACTTCTTATCTGTAAAATGAAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCAGGAGGATTGATTGACCCCAGGAGTTTCAGATCAGCCTGTACAACATAGGGAGACCCTGTCTCTACAAACAACTAGAAAAGAAATTAGCCAGGCACGGTGGCGTGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGACCCCTTGGGCCCAGGAGGTCAAGGCTGCAGTGAGCTATGATCGAGCCGCTGTATTCCAGCCTGGGTGACAGAGCAAAACTCTATCTCAAAAAAAAAAAAAAGAAAAAAAAAAAGAACATTTCACAGGATTGGTTTGGAAATTTAAATGAGATAACACATGGGAGCATGCTCTAGAAACCATTGCAAGTTGTCGGTTATGTTGAAGCTACAGTTTATAGTCACTGATTAATGCTCATTTGCTGAACAACTATTGCTGGACATGGAGAGCCTAGAGGACTGTTGGTTGGTCCCCAGCTGCTTTCTTAACCCTCCTCAAGTCCCCCAGGACAAGGACAGTTGTAAAGGGAATTGGATCAGCTCAGTCATCCTTTCAACTACATTTACCTATGACGTGCCAGGCCTGGGATGCGAAGGCTGGGTGGCAGCCCCAGCCCTGGCACCTGCACTCAGAGGGGCGAAGTTCTGCAGGTTCTCGGTGCCAGAGCCCCAGTTCTGCAGGCTCCTTCTCCTGATCC
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Task1_train_1190
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Here is a variant affecting ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; not provided
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CTTGGAGGCTGGTTTCTGCTCAAGCAATATCAAAACTAGGGTTTTGTGACTGACTAGGTGTGGGGCTGGGGAATAACCATCTCTAGCTTGTGGATCGTTTTGTCTCCCTTTTTATTCCTAGCAGCTCTAGCTGTTGAGAGACACAGCAACCAGAAGAGGAATTTGAAATTAGTCTGTTTTGGTCCTTATTGACAGCTTTGAAAAAGACTGAGGGAGAAAAGTTAAAATTATATTGAACTTTTAGGATTCCTGGTGGATGTCAATGGCCTTCGCTAACTCCCTTCTCCAGACTCACAACTATCACAAAGTACTGGCCACTGTGTCACTCACGCCATTCAAGGCCCAATCACACAATAGCATAACCCTATTTCCCTCCCTCCCTGCTCAGAGGCCTTTCAAATAAGTTATGGGGAATCATCTGTCAACTCAACATAGAACTTCTATGCTGAGAAATATAGAGCTGTCCAGTGGTGTGGGGGCTTCCTAGGAGGTAGTGAATGTCCCTGCACACAAGTGTGGAAGGAGAGGTTGGGGGAGTGCTGGTCAGAGACATGGAAGTGACCAGCAGAGCAGGATTGAGTGGGGCCTCCCCAACGCCTGCCATCTTGAACCCACCGTTGGGTCCTCCCAGGGGAGCTAGTCTTCTTAGGACAGGGGCGCGTAGGCACTTACGGAAGCCACCCTTCCTTCAGGCAGCGGTTGCCAAAGCCTGGCTTATTCAGGAGGACGTCTGCAAGTACCGTGAACTGCTCACTGCCTGGTTCATCCATGCTAGACAGAGTGAGACATGTGACTGGGACAGAGCAGGCGCGTGCCAACATCATGCAACTCAGAGCCTTTACTGGATAGCTGCTGTGTGCCAGGTATGTATTGGAGGCACCGAATGCTGCCTTGGGATGGCGCTAGCTCTCCTGGGAGTGCGGTAGGCTGCCTGAACACTCGCAGTGGTCTGATGGCATGTCACCTATGCCTCAAAAAGATGGCGCTTCAACCCATTCACCTAAGCTTTGCATTCCTTTCCCCATTCGGCCTTCCCAAGCAGTCCTGCCTGTCCACTAGGATCGCCTTTCCAAGCAGTGGCAGATACATTAAGTTCCTTTCTGCAGGCAGCCCAAAGACCCCTCCCCTCTCTCATTGGTGAAGGTCCCAGTGAAGTGGGAAGGTCAGGGCCCTTCTAAGCAGCATGTGACCCAGGTGCCCCAAACCCACAGAGGAGAATGGTGACCCCGAGTCCGCGCACCTGAAGAAGGTGTACTGCTGCCCATATATCCAGGGGTGAAGGGTCAAAGCGGGGTATTCGCCAAAAGGAGGGATAACAATAGAAAGCATCAGAGCCAAAAACACAAAGGTAGCCGGGAGCACGATCTGTGGGAGAATAGACGTGGAATAAACATGACTGTGGCATGGAGATGTCACACGTGCGCGTGCACACACATCTTCATTCTTTTAAACATTTATCCTGCAGCCTCCTAATCAGCCCCTGGTGGAGAGGGTTGGGCTTCTGGGGGAACATAATAAGCAGGGTGTGCAAAGGTAAGATGTGCAGAAGAAAACAGAATGTTCTGGTGGCCACTGAAGAATCTGAATGCAGCCCAGTGTTCAGCCAGACTTCAAAGGGCATTTCAAAGAGCAAGTCACGTGACTCACTGTTCTTTAAACCAGAGCTTCTTTTTCTAAATTAAACAACATTAAAAGAAAAAAGAGGGCAATGATTTTGATATGTAGGGTCACTGCAAAAATGAATGAAAACATGACTTTATCCCTCACTGTAAAAATAAAAACAATATTAACATTTTCACTATTATTCTATTTTCTTTGCTAGGGGAGGTCCAACTTACAAAGAAGATTCATGTTACCAAGAATCAAGATAAGGGTTTGGAAAGCAGGAAACAAAACCAGCAGAATCTAAAGAGGGTGCTCCTTGCTGAGTTATAACCCATGCCTGAAGGAACACTCAGGAGAGGAGGGGAAGGCTGGGAGAGGAGCCACTGAGCTCAGCTAAACACCGACCGACAATAGTACCTGCGCCAGGAAGTCCTTGTGGCTGCGGATGGTGTGTTGGAATCTCTTGACCAGCAGCGCCTGCACATGCTGGAGGACCAGCTGTGTCCCCGTGTTGAGCTGCGGGCCTGGGCACTCTGGCTCTGGGGGAGGCTGGCCCTCTGGGTGAGCAGCCGGCGCCCCTGGGGAGCAGACATTGGAGTCCTGGGGTGTCTGTCCAGCCTTCTCTCTGGGACCCAAGCAGGGGTGTCGGGGGTTGACGTTTTCTCTTTTCTGCTGAGCGCCACCTGTTTTGAGAGATTGAATTAATAATTTGGAAAATGCCTATAAGGTCTGGATCTCTAATGCCATTTTTTTTTTCCCTTACAGCATTGATTTTCCTCTTCATTTAAGTCAGCAATGAAATACCAGGCTGGTAGCTTAATCATCTTTATAAAAATCTATTTCTAGTGTAAATTACTTATACAGAGAAATTGTATAGATTCACCTGAAATTGCCTTAAAATTCTCTATTAACATTAAAGAGAACAAAATAGCTCTAAAAGCATTGACATGGAGAAGTTTAAAATACGTAACTTGGTTAATAAAAAAACAAAACTGGCTGGGCACGGAGGCTCACGCCTGTCATCTCAGCACTTTGGGAGGCTGAGGTGGATGGATCATTTGAGGTCAGCAGTTTGAGACCAGCTTGACCTACATAGTGAAACCCCCTCTCTACAAAAATACAAAAATTAGCCAGGCATGGTGGCAGGCACCTGTAATCCCAACTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCGTAAGCCGAGATTGCAAGACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCTTCTCAAACAGCACAAAGAAAACCAAACAAACAAACAAAAAAACTAAGGTGCTGGTCAATATGTGTAATACACTCACATTTATGTTTAAAATTCATGTTCATGTATCCTACACAAAGAAAAACTGACATCTTATGTACACACACACACATAATTGTAAAACTCTGAAAGAATGTCCACCGACTGTCAGCAGAAGCTCTCCCTGGGGAGGCAGAGTTGGGTAGAAAGGGGAGAGGAAGTGGGAAGCGAGACTTTAGCCTTTTGTGTATTATATGAATTTTTAAACAACAAAATACATTCACCTATTACCTGTGTACTTAAACAAATGAAAAATCAGAGTCGATGTGGTTCTTTCTGAATTCTTAGAGGATACTGAGAAGTGGTAGAAAAAGTAATGAACTAAGAGTTAGGGGACTGAGGTTTGAATATGGATTCTTACAAGATACATAAATTTGGGGAAGTGACTCAATCTGCCTAAATCTGAGTTTTCTCAGACTTCTTATCTGTAAAATGAAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCAGGAGGATTGATTGACCCCAGGAGTTTCAGATCAGCCTGTACAACATAGGGAGACCCTGTCTCTACAAACAACTAGAAAAGAAATTAGCCAGGCACGGTGGCGTGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGACCCCTTGGGCCCAGGAGGTCAAGGCTGCAGTGAGCTATGATCGAGCCGCTGTATTCCAGCCTGGGTGACAGAGCAAAACTCTATCTCAAAAAAAAAAAAAAGAAAAAAAAAAAGAACATTTCACAGGATTGGTTTGGAAATTTAAATGAGATAACACATGGGAGCATGCTCTAGAAACCATTGCAAGTTGTCGGTTATGTTGAAGCTACAGTTTATAGTCACTGATTAATGCTCATTTGCTGAACAACTATTGCTGGACATGGAGAGCCTAGAGGACTGTTGGTTGGTCCCCAGCTGCTTTCTTAACCCTCCTCAAGTCCCCCAGGACAAGGACAGTTGTAAAGGGAATTGGATCAGCTCAGTCATCCTTTCAACTACATTTACCTATGACGTGCCAGGCCTGGGATGCGAAGGCTGGGTGGCAGCCCCAGCCCTGGCACCTGCACTCAGAGGGGCGAAGTTCTGCAGGTTCTCGGTGCCAGAGCCCCAGTTCTGCAGGCTCCTTCTCCTGATCC
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CTTGGAGGCTGGTTTCTGCTCAAGCAATATCAAAACTAGGGTTTTGTGACTGACTAGGTGTGGGGCTGGGGAATAACCATCTCTAGCTTGTGGATCGTTTTGTCTCCCTTTTTATTCCTAGCAGCTCTAGCTGTTGAGAGACACAGCAACCAGAAGAGGAATTTGAAATTAGTCTGTTTTGGTCCTTATTGACAGCTTTGAAAAAGACTGAGGGAGAAAAGTTAAAATTATATTGAACTTTTAGGATTCCTGGTGGATGTCAATGGCCTTCGCTAACTCCCTTCTCCAGACTCACAACTATCACAAAGTACTGGCCACTGTGTCACTCACGCCATTCAAGGCCCAATCACACAATAGCATAACCCTATTTCCCTCCCTCCCTGCTCAGAGGCCTTTCAAATAAGTTATGGGGAATCATCTGTCAACTCAACATAGAACTTCTATGCTGAGAAATATAGAGCTGTCCAGTGGTGTGGGGGCTTCCTAGGAGGTAGTGAATGTCCCTGCACACAAGTGTGGAAGGAGAGGTTGGGGGAGTGCTGGTCAGAGACATGGAAGTGACCAGCAGAGCAGGATTGAGTGGGGCCTCCCCAACGCCTGCCATCTTGAACCCACCGTTGGGTCCTCCCAGGGGAGCTAGTCTTCTTAGGACAGGGGCGCGTAGGCACTTACGGAAGCCACCCTTCCTTCAGGCAGCGGTTGCCAAAGCCTGGCTTATTCAGGAGGACGTCTGCAAGTACCGTGAACTGCTCACTGCCTGGTTCATCCATGCTAGACAGAGTGAGACATGTGACTGGGACAGAGCAGGCGCGTGCCAACATCATGCAACTCAGAGCCTTTACTGGATAGCTGCTGTGTGCCAGGTATGTATTGGAGGCACCGAATGCTGCCTTGGGATGGCGCTAGCTCTCCTGGGAGTGCGGTAGGCTGCCTGAACACTCGCAGTGGTCTGATGGCATGTCACCTATGCCTCAAAAAGATGGCGCTTCAACCCATTCACCTAAGCTTTGCATTCCTTTCCCCATTCGGCCTTCCCAAGCAGTCCTGCCTGTCCACTAGGATCGCCTTTCCAAGCAGTGGCAGATACATTAAGTTCCTTTCTGCAGGCAGCCCAAAGACCCCTCCCCTCTCTCATTGGTGAAGGTCCCAGTGAAGTGGGAAGGTCAGGGCCCTTCTAAGCAGCATGTGACCCAGGTGCCCCAAACCCACAGAGGAGAATGGTGACCCCGAGTCCGCGCACCTGAAGAAGGTGTACTGCTGCCCATATATCCAGGGGTGAAGGGTCAAAGCGGGGTATTCGCCAAAAGGAGGGATAACAATAGAAAGCATCAGAGCCAAAAACACAAAGGTAGCCGGGAGCACGATCTGTGGGAGAATAGACGTGGAATAAACATGACTGTGGCATGGAGATGTCACACGTGCGCGTGCACACACATCTTCATTCTTTTAAACATTTATCCTGCAGCCTCCTAATCAGCCCCTGGTGGAGAGGGTTGGGCTTCTGGGGGAACATAATAAGCAGGGTGTGCAAAGGTAAGATGTGCAGAAGAAAACAGAATGTTCTGGTGGCCACTGAAGAATCTGAATGCAGCCCAGTGTTCAGCCAGACTTCAAAGGGCATTTCAAAGAGCAAGTCACGTGACTCACTGTTCTTTAAACCAGAGCTTCTTTTTCTAAATTAAACAACATTAAAAGAAAAAAGAGGGCAATGATTTTGATATGTAGGGTCACTGCAAAAATGAATGAAAACATGACTTTATCCCTCACTGTAAAAATAAAAACAATATTAACATTTTCACTATTATTCTATTTTCTTTGCTAGGGGAGGTCCAACTTACAAAGAAGATTCATGTTACCAAGAATCAAGATAAGGGTTTGGAAAGCAGGAAACAAAACCAGCAGAATCTAAAGAGGGTGCTCCTTGCTGAGTTATAACCCATGCCTGAAGGAACACTCAGGAGAGGAGGGGAAGGCTGGGAGAGGAGCCACTGAGCTCAGCTAAACACCGACCGACAATAGTACCTGCGCCAGGAAGTCCTTGTGGCTGCCGATGGTGTGTTGGAATCTCTTGACCAGCAGCGCCTGCACATGCTGGAGGACCAGCTGTGTCCCCGTGTTGAGCTGCGGGCCTGGGCACTCTGGCTCTGGGGGAGGCTGGCCCTCTGGGTGAGCAGCCGGCGCCCCTGGGGAGCAGACATTGGAGTCCTGGGGTGTCTGTCCAGCCTTCTCTCTGGGACCCAAGCAGGGGTGTCGGGGGTTGACGTTTTCTCTTTTCTGCTGAGCGCCACCTGTTTTGAGAGATTGAATTAATAATTTGGAAAATGCCTATAAGGTCTGGATCTCTAATGCCATTTTTTTTTTCCCTTACAGCATTGATTTTCCTCTTCATTTAAGTCAGCAATGAAATACCAGGCTGGTAGCTTAATCATCTTTATAAAAATCTATTTCTAGTGTAAATTACTTATACAGAGAAATTGTATAGATTCACCTGAAATTGCCTTAAAATTCTCTATTAACATTAAAGAGAACAAAATAGCTCTAAAAGCATTGACATGGAGAAGTTTAAAATACGTAACTTGGTTAATAAAAAAACAAAACTGGCTGGGCACGGAGGCTCACGCCTGTCATCTCAGCACTTTGGGAGGCTGAGGTGGATGGATCATTTGAGGTCAGCAGTTTGAGACCAGCTTGACCTACATAGTGAAACCCCCTCTCTACAAAAATACAAAAATTAGCCAGGCATGGTGGCAGGCACCTGTAATCCCAACTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCGTAAGCCGAGATTGCAAGACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCTTCTCAAACAGCACAAAGAAAACCAAACAAACAAACAAAAAAACTAAGGTGCTGGTCAATATGTGTAATACACTCACATTTATGTTTAAAATTCATGTTCATGTATCCTACACAAAGAAAAACTGACATCTTATGTACACACACACACATAATTGTAAAACTCTGAAAGAATGTCCACCGACTGTCAGCAGAAGCTCTCCCTGGGGAGGCAGAGTTGGGTAGAAAGGGGAGAGGAAGTGGGAAGCGAGACTTTAGCCTTTTGTGTATTATATGAATTTTTAAACAACAAAATACATTCACCTATTACCTGTGTACTTAAACAAATGAAAAATCAGAGTCGATGTGGTTCTTTCTGAATTCTTAGAGGATACTGAGAAGTGGTAGAAAAAGTAATGAACTAAGAGTTAGGGGACTGAGGTTTGAATATGGATTCTTACAAGATACATAAATTTGGGGAAGTGACTCAATCTGCCTAAATCTGAGTTTTCTCAGACTTCTTATCTGTAAAATGAAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCAGGAGGATTGATTGACCCCAGGAGTTTCAGATCAGCCTGTACAACATAGGGAGACCCTGTCTCTACAAACAACTAGAAAAGAAATTAGCCAGGCACGGTGGCGTGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGACCCCTTGGGCCCAGGAGGTCAAGGCTGCAGTGAGCTATGATCGAGCCGCTGTATTCCAGCCTGGGTGACAGAGCAAAACTCTATCTCAAAAAAAAAAAAAAGAAAAAAAAAAAGAACATTTCACAGGATTGGTTTGGAAATTTAAATGAGATAACACATGGGAGCATGCTCTAGAAACCATTGCAAGTTGTCGGTTATGTTGAAGCTACAGTTTATAGTCACTGATTAATGCTCATTTGCTGAACAACTATTGCTGGACATGGAGAGCCTAGAGGACTGTTGGTTGGTCCCCAGCTGCTTTCTTAACCCTCCTCAAGTCCCCCAGGACAAGGACAGTTGTAAAGGGAATTGGATCAGCTCAGTCATCCTTTCAACTACATTTACCTATGACGTGCCAGGCCTGGGATGCGAAGGCTGGGTGGCAGCCCCAGCCCTGGCACCTGCACTCAGAGGGGCGAAGTTCTGCAGGTTCTCGGTGCCAGAGCCCCAGTTCTGCAGGCTCCTTCTCCTGATCC
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Task1_train_1191
|
A mutation on Chromosome 1 affecting ABCA4 (ATP binding cassette subfamily A member 4) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Retinitis pigmentosa
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AAACTAGGGTTTTGTGACTGACTAGGTGTGGGGCTGGGGAATAACCATCTCTAGCTTGTGGATCGTTTTGTCTCCCTTTTTATTCCTAGCAGCTCTAGCTGTTGAGAGACACAGCAACCAGAAGAGGAATTTGAAATTAGTCTGTTTTGGTCCTTATTGACAGCTTTGAAAAAGACTGAGGGAGAAAAGTTAAAATTATATTGAACTTTTAGGATTCCTGGTGGATGTCAATGGCCTTCGCTAACTCCCTTCTCCAGACTCACAACTATCACAAAGTACTGGCCACTGTGTCACTCACGCCATTCAAGGCCCAATCACACAATAGCATAACCCTATTTCCCTCCCTCCCTGCTCAGAGGCCTTTCAAATAAGTTATGGGGAATCATCTGTCAACTCAACATAGAACTTCTATGCTGAGAAATATAGAGCTGTCCAGTGGTGTGGGGGCTTCCTAGGAGGTAGTGAATGTCCCTGCACACAAGTGTGGAAGGAGAGGTTGGGGGAGTGCTGGTCAGAGACATGGAAGTGACCAGCAGAGCAGGATTGAGTGGGGCCTCCCCAACGCCTGCCATCTTGAACCCACCGTTGGGTCCTCCCAGGGGAGCTAGTCTTCTTAGGACAGGGGCGCGTAGGCACTTACGGAAGCCACCCTTCCTTCAGGCAGCGGTTGCCAAAGCCTGGCTTATTCAGGAGGACGTCTGCAAGTACCGTGAACTGCTCACTGCCTGGTTCATCCATGCTAGACAGAGTGAGACATGTGACTGGGACAGAGCAGGCGCGTGCCAACATCATGCAACTCAGAGCCTTTACTGGATAGCTGCTGTGTGCCAGGTATGTATTGGAGGCACCGAATGCTGCCTTGGGATGGCGCTAGCTCTCCTGGGAGTGCGGTAGGCTGCCTGAACACTCGCAGTGGTCTGATGGCATGTCACCTATGCCTCAAAAAGATGGCGCTTCAACCCATTCACCTAAGCTTTGCATTCCTTTCCCCATTCGGCCTTCCCAAGCAGTCCTGCCTGTCCACTAGGATCGCCTTTCCAAGCAGTGGCAGATACATTAAGTTCCTTTCTGCAGGCAGCCCAAAGACCCCTCCCCTCTCTCATTGGTGAAGGTCCCAGTGAAGTGGGAAGGTCAGGGCCCTTCTAAGCAGCATGTGACCCAGGTGCCCCAAACCCACAGAGGAGAATGGTGACCCCGAGTCCGCGCACCTGAAGAAGGTGTACTGCTGCCCATATATCCAGGGGTGAAGGGTCAAAGCGGGGTATTCGCCAAAAGGAGGGATAACAATAGAAAGCATCAGAGCCAAAAACACAAAGGTAGCCGGGAGCACGATCTGTGGGAGAATAGACGTGGAATAAACATGACTGTGGCATGGAGATGTCACACGTGCGCGTGCACACACATCTTCATTCTTTTAAACATTTATCCTGCAGCCTCCTAATCAGCCCCTGGTGGAGAGGGTTGGGCTTCTGGGGGAACATAATAAGCAGGGTGTGCAAAGGTAAGATGTGCAGAAGAAAACAGAATGTTCTGGTGGCCACTGAAGAATCTGAATGCAGCCCAGTGTTCAGCCAGACTTCAAAGGGCATTTCAAAGAGCAAGTCACGTGACTCACTGTTCTTTAAACCAGAGCTTCTTTTTCTAAATTAAACAACATTAAAAGAAAAAAGAGGGCAATGATTTTGATATGTAGGGTCACTGCAAAAATGAATGAAAACATGACTTTATCCCTCACTGTAAAAATAAAAACAATATTAACATTTTCACTATTATTCTATTTTCTTTGCTAGGGGAGGTCCAACTTACAAAGAAGATTCATGTTACCAAGAATCAAGATAAGGGTTTGGAAAGCAGGAAACAAAACCAGCAGAATCTAAAGAGGGTGCTCCTTGCTGAGTTATAACCCATGCCTGAAGGAACACTCAGGAGAGGAGGGGAAGGCTGGGAGAGGAGCCACTGAGCTCAGCTAAACACCGACCGACAATAGTACCTGCGCCAGGAAGTCCTTGTGGCTGCGGATGGTGTGTTGGAATCTCTTGACCAGCAGCGCCTGCACATGCTGGAGGACCAGCTGTGTCCCCGTGTTGAGCTGCGGGCCTGGGCACTCTGGCTCTGGGGGAGGCTGGCCCTCTGGGTGAGCAGCCGGCGCCCCTGGGGAGCAGACATTGGAGTCCTGGGGTGTCTGTCCAGCCTTCTCTCTGGGACCCAAGCAGGGGTGTCGGGGGTTGACGTTTTCTCTTTTCTGCTGAGCGCCACCTGTTTTGAGAGATTGAATTAATAATTTGGAAAATGCCTATAAGGTCTGGATCTCTAATGCCATTTTTTTTTTCCCTTACAGCATTGATTTTCCTCTTCATTTAAGTCAGCAATGAAATACCAGGCTGGTAGCTTAATCATCTTTATAAAAATCTATTTCTAGTGTAAATTACTTATACAGAGAAATTGTATAGATTCACCTGAAATTGCCTTAAAATTCTCTATTAACATTAAAGAGAACAAAATAGCTCTAAAAGCATTGACATGGAGAAGTTTAAAATACGTAACTTGGTTAATAAAAAAACAAAACTGGCTGGGCACGGAGGCTCACGCCTGTCATCTCAGCACTTTGGGAGGCTGAGGTGGATGGATCATTTGAGGTCAGCAGTTTGAGACCAGCTTGACCTACATAGTGAAACCCCCTCTCTACAAAAATACAAAAATTAGCCAGGCATGGTGGCAGGCACCTGTAATCCCAACTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCGTAAGCCGAGATTGCAAGACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCTTCTCAAACAGCACAAAGAAAACCAAACAAACAAACAAAAAAACTAAGGTGCTGGTCAATATGTGTAATACACTCACATTTATGTTTAAAATTCATGTTCATGTATCCTACACAAAGAAAAACTGACATCTTATGTACACACACACACATAATTGTAAAACTCTGAAAGAATGTCCACCGACTGTCAGCAGAAGCTCTCCCTGGGGAGGCAGAGTTGGGTAGAAAGGGGAGAGGAAGTGGGAAGCGAGACTTTAGCCTTTTGTGTATTATATGAATTTTTAAACAACAAAATACATTCACCTATTACCTGTGTACTTAAACAAATGAAAAATCAGAGTCGATGTGGTTCTTTCTGAATTCTTAGAGGATACTGAGAAGTGGTAGAAAAAGTAATGAACTAAGAGTTAGGGGACTGAGGTTTGAATATGGATTCTTACAAGATACATAAATTTGGGGAAGTGACTCAATCTGCCTAAATCTGAGTTTTCTCAGACTTCTTATCTGTAAAATGAAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCAGGAGGATTGATTGACCCCAGGAGTTTCAGATCAGCCTGTACAACATAGGGAGACCCTGTCTCTACAAACAACTAGAAAAGAAATTAGCCAGGCACGGTGGCGTGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGACCCCTTGGGCCCAGGAGGTCAAGGCTGCAGTGAGCTATGATCGAGCCGCTGTATTCCAGCCTGGGTGACAGAGCAAAACTCTATCTCAAAAAAAAAAAAAAGAAAAAAAAAAAGAACATTTCACAGGATTGGTTTGGAAATTTAAATGAGATAACACATGGGAGCATGCTCTAGAAACCATTGCAAGTTGTCGGTTATGTTGAAGCTACAGTTTATAGTCACTGATTAATGCTCATTTGCTGAACAACTATTGCTGGACATGGAGAGCCTAGAGGACTGTTGGTTGGTCCCCAGCTGCTTTCTTAACCCTCCTCAAGTCCCCCAGGACAAGGACAGTTGTAAAGGGAATTGGATCAGCTCAGTCATCCTTTCAACTACATTTACCTATGACGTGCCAGGCCTGGGATGCGAAGGCTGGGTGGCAGCCCCAGCCCTGGCACCTGCACTCAGAGGGGCGAAGTTCTGCAGGTTCTCGGTGCCAGAGCCCCAGTTCTGCAGGCTCCTTCTCCTGATCCGGGCTCAGATTTGATGTCTTCTATGGCTGGCC
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AAACTAGGGTTTTGTGACTGACTAGGTGTGGGGCTGGGGAATAACCATCTCTAGCTTGTGGATCGTTTTGTCTCCCTTTTTATTCCTAGCAGCTCTAGCTGTTGAGAGACACAGCAACCAGAAGAGGAATTTGAAATTAGTCTGTTTTGGTCCTTATTGACAGCTTTGAAAAAGACTGAGGGAGAAAAGTTAAAATTATATTGAACTTTTAGGATTCCTGGTGGATGTCAATGGCCTTCGCTAACTCCCTTCTCCAGACTCACAACTATCACAAAGTACTGGCCACTGTGTCACTCACGCCATTCAAGGCCCAATCACACAATAGCATAACCCTATTTCCCTCCCTCCCTGCTCAGAGGCCTTTCAAATAAGTTATGGGGAATCATCTGTCAACTCAACATAGAACTTCTATGCTGAGAAATATAGAGCTGTCCAGTGGTGTGGGGGCTTCCTAGGAGGTAGTGAATGTCCCTGCACACAAGTGTGGAAGGAGAGGTTGGGGGAGTGCTGGTCAGAGACATGGAAGTGACCAGCAGAGCAGGATTGAGTGGGGCCTCCCCAACGCCTGCCATCTTGAACCCACCGTTGGGTCCTCCCAGGGGAGCTAGTCTTCTTAGGACAGGGGCGCGTAGGCACTTACGGAAGCCACCCTTCCTTCAGGCAGCGGTTGCCAAAGCCTGGCTTATTCAGGAGGACGTCTGCAAGTACCGTGAACTGCTCACTGCCTGGTTCATCCATGCTAGACAGAGTGAGACATGTGACTGGGACAGAGCAGGCGCGTGCCAACATCATGCAACTCAGAGCCTTTACTGGATAGCTGCTGTGTGCCAGGTATGTATTGGAGGCACCGAATGCTGCCTTGGGATGGCGCTAGCTCTCCTGGGAGTGCGGTAGGCTGCCTGAACACTCGCAGTGGTCTGATGGCATGTCACCTATGCCTCAAAAAGATGGCGCTTCAACCCATTCACCTAAGCTTTGCATTCCTTTCCCCATTCGGCCTTCCCAAGCAGTCCTGCCTGTCCACTAGGATCGCCTTTCCAAGCAGTGGCAGATACATTAAGTTCCTTTCTGCAGGCAGCCCAAAGACCCCTCCCCTCTCTCATTGGTGAAGGTCCCAGTGAAGTGGGAAGGTCAGGGCCCTTCTAAGCAGCATGTGACCCAGGTGCCCCAAACCCACAGAGGAGAATGGTGACCCCGAGTCCGCGCACCTGAAGAAGGTGTACTGCTGCCCATATATCCAGGGGTGAAGGGTCAAAGCGGGGTATTCGCCAAAAGGAGGGATAACAATAGAAAGCATCAGAGCCAAAAACACAAAGGTAGCCGGGAGCACGATCTGTGGGAGAATAGACGTGGAATAAACATGACTGTGGCATGGAGATGTCACACGTGCGCGTGCACACACATCTTCATTCTTTTAAACATTTATCCTGCAGCCTCCTAATCAGCCCCTGGTGGAGAGGGTTGGGCTTCTGGGGGAACATAATAAGCAGGGTGTGCAAAGGTAAGATGTGCAGAAGAAAACAGAATGTTCTGGTGGCCACTGAAGAATCTGAATGCAGCCCAGTGTTCAGCCAGACTTCAAAGGGCATTTCAAAGAGCAAGTCACGTGACTCACTGTTCTTTAAACCAGAGCTTCTTTTTCTAAATTAAACAACATTAAAAGAAAAAAGAGGGCAATGATTTTGATATGTAGGGTCACTGCAAAAATGAATGAAAACATGACTTTATCCCTCACTGTAAAAATAAAAACAATATTAACATTTTCACTATTATTCTATTTTCTTTGCTAGGGGAGGTCCAACTTACAAAGAAGATTCATGTTACCAAGAATCAAGATAAGGGTTTGGAAAGCAGGAAACAAAACCAGCAGAATCTAAAGAGGGTGCTCCTTGCTGAGTTATAACCCATGCCTGAAGGAACACTCAGGAGAGGAGGGGAAGGCTGGGAGAGGAGCCACTGAGCTCAGCTAAACACCGACCGACAATAGTACCTGCGCCAGGAAGTCCTTGTGGCTGCGGATGGTGTGTTGGAATCTCTTGACCAGCAGCTCCTGCACATGCTGGAGGACCAGCTGTGTCCCCGTGTTGAGCTGCGGGCCTGGGCACTCTGGCTCTGGGGGAGGCTGGCCCTCTGGGTGAGCAGCCGGCGCCCCTGGGGAGCAGACATTGGAGTCCTGGGGTGTCTGTCCAGCCTTCTCTCTGGGACCCAAGCAGGGGTGTCGGGGGTTGACGTTTTCTCTTTTCTGCTGAGCGCCACCTGTTTTGAGAGATTGAATTAATAATTTGGAAAATGCCTATAAGGTCTGGATCTCTAATGCCATTTTTTTTTTCCCTTACAGCATTGATTTTCCTCTTCATTTAAGTCAGCAATGAAATACCAGGCTGGTAGCTTAATCATCTTTATAAAAATCTATTTCTAGTGTAAATTACTTATACAGAGAAATTGTATAGATTCACCTGAAATTGCCTTAAAATTCTCTATTAACATTAAAGAGAACAAAATAGCTCTAAAAGCATTGACATGGAGAAGTTTAAAATACGTAACTTGGTTAATAAAAAAACAAAACTGGCTGGGCACGGAGGCTCACGCCTGTCATCTCAGCACTTTGGGAGGCTGAGGTGGATGGATCATTTGAGGTCAGCAGTTTGAGACCAGCTTGACCTACATAGTGAAACCCCCTCTCTACAAAAATACAAAAATTAGCCAGGCATGGTGGCAGGCACCTGTAATCCCAACTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCGTAAGCCGAGATTGCAAGACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCTTCTCAAACAGCACAAAGAAAACCAAACAAACAAACAAAAAAACTAAGGTGCTGGTCAATATGTGTAATACACTCACATTTATGTTTAAAATTCATGTTCATGTATCCTACACAAAGAAAAACTGACATCTTATGTACACACACACACATAATTGTAAAACTCTGAAAGAATGTCCACCGACTGTCAGCAGAAGCTCTCCCTGGGGAGGCAGAGTTGGGTAGAAAGGGGAGAGGAAGTGGGAAGCGAGACTTTAGCCTTTTGTGTATTATATGAATTTTTAAACAACAAAATACATTCACCTATTACCTGTGTACTTAAACAAATGAAAAATCAGAGTCGATGTGGTTCTTTCTGAATTCTTAGAGGATACTGAGAAGTGGTAGAAAAAGTAATGAACTAAGAGTTAGGGGACTGAGGTTTGAATATGGATTCTTACAAGATACATAAATTTGGGGAAGTGACTCAATCTGCCTAAATCTGAGTTTTCTCAGACTTCTTATCTGTAAAATGAAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCAGGAGGATTGATTGACCCCAGGAGTTTCAGATCAGCCTGTACAACATAGGGAGACCCTGTCTCTACAAACAACTAGAAAAGAAATTAGCCAGGCACGGTGGCGTGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGACCCCTTGGGCCCAGGAGGTCAAGGCTGCAGTGAGCTATGATCGAGCCGCTGTATTCCAGCCTGGGTGACAGAGCAAAACTCTATCTCAAAAAAAAAAAAAAGAAAAAAAAAAAGAACATTTCACAGGATTGGTTTGGAAATTTAAATGAGATAACACATGGGAGCATGCTCTAGAAACCATTGCAAGTTGTCGGTTATGTTGAAGCTACAGTTTATAGTCACTGATTAATGCTCATTTGCTGAACAACTATTGCTGGACATGGAGAGCCTAGAGGACTGTTGGTTGGTCCCCAGCTGCTTTCTTAACCCTCCTCAAGTCCCCCAGGACAAGGACAGTTGTAAAGGGAATTGGATCAGCTCAGTCATCCTTTCAACTACATTTACCTATGACGTGCCAGGCCTGGGATGCGAAGGCTGGGTGGCAGCCCCAGCCCTGGCACCTGCACTCAGAGGGGCGAAGTTCTGCAGGTTCTCGGTGCCAGAGCCCCAGTTCTGCAGGCTCCTTCTCCTGATCCGGGCTCAGATTTGATGTCTTCTATGGCTGGCC
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Task1_train_1192
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The gene ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Retinitis pigmentosa
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AACTAGGGTTTTGTGACTGACTAGGTGTGGGGCTGGGGAATAACCATCTCTAGCTTGTGGATCGTTTTGTCTCCCTTTTTATTCCTAGCAGCTCTAGCTGTTGAGAGACACAGCAACCAGAAGAGGAATTTGAAATTAGTCTGTTTTGGTCCTTATTGACAGCTTTGAAAAAGACTGAGGGAGAAAAGTTAAAATTATATTGAACTTTTAGGATTCCTGGTGGATGTCAATGGCCTTCGCTAACTCCCTTCTCCAGACTCACAACTATCACAAAGTACTGGCCACTGTGTCACTCACGCCATTCAAGGCCCAATCACACAATAGCATAACCCTATTTCCCTCCCTCCCTGCTCAGAGGCCTTTCAAATAAGTTATGGGGAATCATCTGTCAACTCAACATAGAACTTCTATGCTGAGAAATATAGAGCTGTCCAGTGGTGTGGGGGCTTCCTAGGAGGTAGTGAATGTCCCTGCACACAAGTGTGGAAGGAGAGGTTGGGGGAGTGCTGGTCAGAGACATGGAAGTGACCAGCAGAGCAGGATTGAGTGGGGCCTCCCCAACGCCTGCCATCTTGAACCCACCGTTGGGTCCTCCCAGGGGAGCTAGTCTTCTTAGGACAGGGGCGCGTAGGCACTTACGGAAGCCACCCTTCCTTCAGGCAGCGGTTGCCAAAGCCTGGCTTATTCAGGAGGACGTCTGCAAGTACCGTGAACTGCTCACTGCCTGGTTCATCCATGCTAGACAGAGTGAGACATGTGACTGGGACAGAGCAGGCGCGTGCCAACATCATGCAACTCAGAGCCTTTACTGGATAGCTGCTGTGTGCCAGGTATGTATTGGAGGCACCGAATGCTGCCTTGGGATGGCGCTAGCTCTCCTGGGAGTGCGGTAGGCTGCCTGAACACTCGCAGTGGTCTGATGGCATGTCACCTATGCCTCAAAAAGATGGCGCTTCAACCCATTCACCTAAGCTTTGCATTCCTTTCCCCATTCGGCCTTCCCAAGCAGTCCTGCCTGTCCACTAGGATCGCCTTTCCAAGCAGTGGCAGATACATTAAGTTCCTTTCTGCAGGCAGCCCAAAGACCCCTCCCCTCTCTCATTGGTGAAGGTCCCAGTGAAGTGGGAAGGTCAGGGCCCTTCTAAGCAGCATGTGACCCAGGTGCCCCAAACCCACAGAGGAGAATGGTGACCCCGAGTCCGCGCACCTGAAGAAGGTGTACTGCTGCCCATATATCCAGGGGTGAAGGGTCAAAGCGGGGTATTCGCCAAAAGGAGGGATAACAATAGAAAGCATCAGAGCCAAAAACACAAAGGTAGCCGGGAGCACGATCTGTGGGAGAATAGACGTGGAATAAACATGACTGTGGCATGGAGATGTCACACGTGCGCGTGCACACACATCTTCATTCTTTTAAACATTTATCCTGCAGCCTCCTAATCAGCCCCTGGTGGAGAGGGTTGGGCTTCTGGGGGAACATAATAAGCAGGGTGTGCAAAGGTAAGATGTGCAGAAGAAAACAGAATGTTCTGGTGGCCACTGAAGAATCTGAATGCAGCCCAGTGTTCAGCCAGACTTCAAAGGGCATTTCAAAGAGCAAGTCACGTGACTCACTGTTCTTTAAACCAGAGCTTCTTTTTCTAAATTAAACAACATTAAAAGAAAAAAGAGGGCAATGATTTTGATATGTAGGGTCACTGCAAAAATGAATGAAAACATGACTTTATCCCTCACTGTAAAAATAAAAACAATATTAACATTTTCACTATTATTCTATTTTCTTTGCTAGGGGAGGTCCAACTTACAAAGAAGATTCATGTTACCAAGAATCAAGATAAGGGTTTGGAAAGCAGGAAACAAAACCAGCAGAATCTAAAGAGGGTGCTCCTTGCTGAGTTATAACCCATGCCTGAAGGAACACTCAGGAGAGGAGGGGAAGGCTGGGAGAGGAGCCACTGAGCTCAGCTAAACACCGACCGACAATAGTACCTGCGCCAGGAAGTCCTTGTGGCTGCGGATGGTGTGTTGGAATCTCTTGACCAGCAGCGCCTGCACATGCTGGAGGACCAGCTGTGTCCCCGTGTTGAGCTGCGGGCCTGGGCACTCTGGCTCTGGGGGAGGCTGGCCCTCTGGGTGAGCAGCCGGCGCCCCTGGGGAGCAGACATTGGAGTCCTGGGGTGTCTGTCCAGCCTTCTCTCTGGGACCCAAGCAGGGGTGTCGGGGGTTGACGTTTTCTCTTTTCTGCTGAGCGCCACCTGTTTTGAGAGATTGAATTAATAATTTGGAAAATGCCTATAAGGTCTGGATCTCTAATGCCATTTTTTTTTTCCCTTACAGCATTGATTTTCCTCTTCATTTAAGTCAGCAATGAAATACCAGGCTGGTAGCTTAATCATCTTTATAAAAATCTATTTCTAGTGTAAATTACTTATACAGAGAAATTGTATAGATTCACCTGAAATTGCCTTAAAATTCTCTATTAACATTAAAGAGAACAAAATAGCTCTAAAAGCATTGACATGGAGAAGTTTAAAATACGTAACTTGGTTAATAAAAAAACAAAACTGGCTGGGCACGGAGGCTCACGCCTGTCATCTCAGCACTTTGGGAGGCTGAGGTGGATGGATCATTTGAGGTCAGCAGTTTGAGACCAGCTTGACCTACATAGTGAAACCCCCTCTCTACAAAAATACAAAAATTAGCCAGGCATGGTGGCAGGCACCTGTAATCCCAACTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCGTAAGCCGAGATTGCAAGACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCTTCTCAAACAGCACAAAGAAAACCAAACAAACAAACAAAAAAACTAAGGTGCTGGTCAATATGTGTAATACACTCACATTTATGTTTAAAATTCATGTTCATGTATCCTACACAAAGAAAAACTGACATCTTATGTACACACACACACATAATTGTAAAACTCTGAAAGAATGTCCACCGACTGTCAGCAGAAGCTCTCCCTGGGGAGGCAGAGTTGGGTAGAAAGGGGAGAGGAAGTGGGAAGCGAGACTTTAGCCTTTTGTGTATTATATGAATTTTTAAACAACAAAATACATTCACCTATTACCTGTGTACTTAAACAAATGAAAAATCAGAGTCGATGTGGTTCTTTCTGAATTCTTAGAGGATACTGAGAAGTGGTAGAAAAAGTAATGAACTAAGAGTTAGGGGACTGAGGTTTGAATATGGATTCTTACAAGATACATAAATTTGGGGAAGTGACTCAATCTGCCTAAATCTGAGTTTTCTCAGACTTCTTATCTGTAAAATGAAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCAGGAGGATTGATTGACCCCAGGAGTTTCAGATCAGCCTGTACAACATAGGGAGACCCTGTCTCTACAAACAACTAGAAAAGAAATTAGCCAGGCACGGTGGCGTGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGACCCCTTGGGCCCAGGAGGTCAAGGCTGCAGTGAGCTATGATCGAGCCGCTGTATTCCAGCCTGGGTGACAGAGCAAAACTCTATCTCAAAAAAAAAAAAAAGAAAAAAAAAAAGAACATTTCACAGGATTGGTTTGGAAATTTAAATGAGATAACACATGGGAGCATGCTCTAGAAACCATTGCAAGTTGTCGGTTATGTTGAAGCTACAGTTTATAGTCACTGATTAATGCTCATTTGCTGAACAACTATTGCTGGACATGGAGAGCCTAGAGGACTGTTGGTTGGTCCCCAGCTGCTTTCTTAACCCTCCTCAAGTCCCCCAGGACAAGGACAGTTGTAAAGGGAATTGGATCAGCTCAGTCATCCTTTCAACTACATTTACCTATGACGTGCCAGGCCTGGGATGCGAAGGCTGGGTGGCAGCCCCAGCCCTGGCACCTGCACTCAGAGGGGCGAAGTTCTGCAGGTTCTCGGTGCCAGAGCCCCAGTTCTGCAGGCTCCTTCTCCTGATCCGGGCTCAGATTTGATGTCTTCTATGGCTGGCCC
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AACTAGGGTTTTGTGACTGACTAGGTGTGGGGCTGGGGAATAACCATCTCTAGCTTGTGGATCGTTTTGTCTCCCTTTTTATTCCTAGCAGCTCTAGCTGTTGAGAGACACAGCAACCAGAAGAGGAATTTGAAATTAGTCTGTTTTGGTCCTTATTGACAGCTTTGAAAAAGACTGAGGGAGAAAAGTTAAAATTATATTGAACTTTTAGGATTCCTGGTGGATGTCAATGGCCTTCGCTAACTCCCTTCTCCAGACTCACAACTATCACAAAGTACTGGCCACTGTGTCACTCACGCCATTCAAGGCCCAATCACACAATAGCATAACCCTATTTCCCTCCCTCCCTGCTCAGAGGCCTTTCAAATAAGTTATGGGGAATCATCTGTCAACTCAACATAGAACTTCTATGCTGAGAAATATAGAGCTGTCCAGTGGTGTGGGGGCTTCCTAGGAGGTAGTGAATGTCCCTGCACACAAGTGTGGAAGGAGAGGTTGGGGGAGTGCTGGTCAGAGACATGGAAGTGACCAGCAGAGCAGGATTGAGTGGGGCCTCCCCAACGCCTGCCATCTTGAACCCACCGTTGGGTCCTCCCAGGGGAGCTAGTCTTCTTAGGACAGGGGCGCGTAGGCACTTACGGAAGCCACCCTTCCTTCAGGCAGCGGTTGCCAAAGCCTGGCTTATTCAGGAGGACGTCTGCAAGTACCGTGAACTGCTCACTGCCTGGTTCATCCATGCTAGACAGAGTGAGACATGTGACTGGGACAGAGCAGGCGCGTGCCAACATCATGCAACTCAGAGCCTTTACTGGATAGCTGCTGTGTGCCAGGTATGTATTGGAGGCACCGAATGCTGCCTTGGGATGGCGCTAGCTCTCCTGGGAGTGCGGTAGGCTGCCTGAACACTCGCAGTGGTCTGATGGCATGTCACCTATGCCTCAAAAAGATGGCGCTTCAACCCATTCACCTAAGCTTTGCATTCCTTTCCCCATTCGGCCTTCCCAAGCAGTCCTGCCTGTCCACTAGGATCGCCTTTCCAAGCAGTGGCAGATACATTAAGTTCCTTTCTGCAGGCAGCCCAAAGACCCCTCCCCTCTCTCATTGGTGAAGGTCCCAGTGAAGTGGGAAGGTCAGGGCCCTTCTAAGCAGCATGTGACCCAGGTGCCCCAAACCCACAGAGGAGAATGGTGACCCCGAGTCCGCGCACCTGAAGAAGGTGTACTGCTGCCCATATATCCAGGGGTGAAGGGTCAAAGCGGGGTATTCGCCAAAAGGAGGGATAACAATAGAAAGCATCAGAGCCAAAAACACAAAGGTAGCCGGGAGCACGATCTGTGGGAGAATAGACGTGGAATAAACATGACTGTGGCATGGAGATGTCACACGTGCGCGTGCACACACATCTTCATTCTTTTAAACATTTATCCTGCAGCCTCCTAATCAGCCCCTGGTGGAGAGGGTTGGGCTTCTGGGGGAACATAATAAGCAGGGTGTGCAAAGGTAAGATGTGCAGAAGAAAACAGAATGTTCTGGTGGCCACTGAAGAATCTGAATGCAGCCCAGTGTTCAGCCAGACTTCAAAGGGCATTTCAAAGAGCAAGTCACGTGACTCACTGTTCTTTAAACCAGAGCTTCTTTTTCTAAATTAAACAACATTAAAAGAAAAAAGAGGGCAATGATTTTGATATGTAGGGTCACTGCAAAAATGAATGAAAACATGACTTTATCCCTCACTGTAAAAATAAAAACAATATTAACATTTTCACTATTATTCTATTTTCTTTGCTAGGGGAGGTCCAACTTACAAAGAAGATTCATGTTACCAAGAATCAAGATAAGGGTTTGGAAAGCAGGAAACAAAACCAGCAGAATCTAAAGAGGGTGCTCCTTGCTGAGTTATAACCCATGCCTGAAGGAACACTCAGGAGAGGAGGGGAAGGCTGGGAGAGGAGCCACTGAGCTCAGCTAAACACCGACCGACAATAGTACCTGCGCCAGGAAGTCCTTGTGGCTGCGGATGGTGTGTTGGAATCTCTTGACCAGCAGCGTCTGCACATGCTGGAGGACCAGCTGTGTCCCCGTGTTGAGCTGCGGGCCTGGGCACTCTGGCTCTGGGGGAGGCTGGCCCTCTGGGTGAGCAGCCGGCGCCCCTGGGGAGCAGACATTGGAGTCCTGGGGTGTCTGTCCAGCCTTCTCTCTGGGACCCAAGCAGGGGTGTCGGGGGTTGACGTTTTCTCTTTTCTGCTGAGCGCCACCTGTTTTGAGAGATTGAATTAATAATTTGGAAAATGCCTATAAGGTCTGGATCTCTAATGCCATTTTTTTTTTCCCTTACAGCATTGATTTTCCTCTTCATTTAAGTCAGCAATGAAATACCAGGCTGGTAGCTTAATCATCTTTATAAAAATCTATTTCTAGTGTAAATTACTTATACAGAGAAATTGTATAGATTCACCTGAAATTGCCTTAAAATTCTCTATTAACATTAAAGAGAACAAAATAGCTCTAAAAGCATTGACATGGAGAAGTTTAAAATACGTAACTTGGTTAATAAAAAAACAAAACTGGCTGGGCACGGAGGCTCACGCCTGTCATCTCAGCACTTTGGGAGGCTGAGGTGGATGGATCATTTGAGGTCAGCAGTTTGAGACCAGCTTGACCTACATAGTGAAACCCCCTCTCTACAAAAATACAAAAATTAGCCAGGCATGGTGGCAGGCACCTGTAATCCCAACTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCGTAAGCCGAGATTGCAAGACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCTTCTCAAACAGCACAAAGAAAACCAAACAAACAAACAAAAAAACTAAGGTGCTGGTCAATATGTGTAATACACTCACATTTATGTTTAAAATTCATGTTCATGTATCCTACACAAAGAAAAACTGACATCTTATGTACACACACACACATAATTGTAAAACTCTGAAAGAATGTCCACCGACTGTCAGCAGAAGCTCTCCCTGGGGAGGCAGAGTTGGGTAGAAAGGGGAGAGGAAGTGGGAAGCGAGACTTTAGCCTTTTGTGTATTATATGAATTTTTAAACAACAAAATACATTCACCTATTACCTGTGTACTTAAACAAATGAAAAATCAGAGTCGATGTGGTTCTTTCTGAATTCTTAGAGGATACTGAGAAGTGGTAGAAAAAGTAATGAACTAAGAGTTAGGGGACTGAGGTTTGAATATGGATTCTTACAAGATACATAAATTTGGGGAAGTGACTCAATCTGCCTAAATCTGAGTTTTCTCAGACTTCTTATCTGTAAAATGAAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCAGGAGGATTGATTGACCCCAGGAGTTTCAGATCAGCCTGTACAACATAGGGAGACCCTGTCTCTACAAACAACTAGAAAAGAAATTAGCCAGGCACGGTGGCGTGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGACCCCTTGGGCCCAGGAGGTCAAGGCTGCAGTGAGCTATGATCGAGCCGCTGTATTCCAGCCTGGGTGACAGAGCAAAACTCTATCTCAAAAAAAAAAAAAAGAAAAAAAAAAAGAACATTTCACAGGATTGGTTTGGAAATTTAAATGAGATAACACATGGGAGCATGCTCTAGAAACCATTGCAAGTTGTCGGTTATGTTGAAGCTACAGTTTATAGTCACTGATTAATGCTCATTTGCTGAACAACTATTGCTGGACATGGAGAGCCTAGAGGACTGTTGGTTGGTCCCCAGCTGCTTTCTTAACCCTCCTCAAGTCCCCCAGGACAAGGACAGTTGTAAAGGGAATTGGATCAGCTCAGTCATCCTTTCAACTACATTTACCTATGACGTGCCAGGCCTGGGATGCGAAGGCTGGGTGGCAGCCCCAGCCCTGGCACCTGCACTCAGAGGGGCGAAGTTCTGCAGGTTCTCGGTGCCAGAGCCCCAGTTCTGCAGGCTCCTTCTCCTGATCCGGGCTCAGATTTGATGTCTTCTATGGCTGGCCC
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Task1_train_1193
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Assess the clinical impact of this variant on gene ABCA4, LOC126805794 (ATP binding cassette subfamily A member 4| BRD4-independent group 4 enhancer GRCh37_chr1:94502188-94503387), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; not provided
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GAACATCCTGTTCTATGCCTATGCTGACTAAACAGTCCTCTGATGTGTAATTTATTCTCCTGAGAGGGCCTATTTATCAAGAAGGAATATTCTGCACAGGTAAAAGGCCCTAACTCTTGAATCCAGCAAAGCTTCTGATATAAATTAGCATATTTTCATTCTGGTCTTGGTTAATATGAGTCTTTGACATTGGGTGAGCTGAGATTATTCAATTTCTGTGTCAGCAGAGCTTGAAAGAAACTTGGGTTCTGTGGTGAATTGCTGCTGTCCCCTGGAGAGGACTGCTTCCTGCCCCACACCCACTGTGCCAGGACGACTACATCTTTTGGTCACCATGCGATGTACTGGGATGGGCTGAAGCATATCTGGGCTGGTATATGTGTCCATTGGTAGTTCTAGGCATAGTAGATAGATGTTTGGGATCATTATGAAGAAAGATGAAAACCAAGTTATCTTAAGAGCTGATTCCAGAATCCACATAGAAAGGAAACACTCCAACAGGAAAACACTGAAATATGCCACACTGGAAAGAAGGAGGTAACTGGTGGTTTAGGAGGTGTTAGGAGCCCAGGGGCAGCAAAGGAGAATCGCTGCAAAGCTTTGCCTGTACCAGGAGAGGATTTTACAGTGTGGGTGGACACCTCGTGTTCTATCAGAAGTGGTTTCTGTTTGTGTGGCAGGTAACCCTTCCACACATCTATCTCCCCACCCTCCACCCTCTGCTGTAAACTCTGCTACACTCACACATGCTTTGTGTGGCTGTGGGTTTGATAAAAGTTCATGGAAGGAGCTAGTTGGTGCCCAGGCTGACACATGTAGAAGAGAGACTTCTAGAATCCACAGGAATTTTGGTCCCCATGTTTTCAAAGCCCATAGACCACTAAATAAGGGTTCAAAATGATTTTATGTTGATCTCAAAGGGGCCAGGAGACTGACGTCTGAGTTGTATTTGATAAACATTAAGGACTCTGCCAGCTGTCACTCATGCAGACAGAGATGGATCAGAGGCCTGGTGGAGATGACAGGAGGAGATGAGGATGATGACATGGCAGGCCGAGAGACTGGGGATACAGCATGAGGAGCTGAGGGATGAAGCTACCAACCTGACCTCCGTAAGAATCCTCATTCATCCAAAGTGTCCCCATCTAGACCTAACTCAGTCTGTTATTCCTTTGTCACTCAAAGCCATCTAGGATGCAAAATGCCTACTACTGGGGAGTCAGATACTATGGAGGAGTATTTGCCTGCTTTGTTGTTTCATGACTTTTTCCTTAGACTTTTTTTTTTTTTTGAGATGGATTTTGCTCTTGTCGCTCAGGCTGCAGTGCAGTGGCACAATCTCTGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGTGCGCGCCACCACACCTAGCTAATTTTTGTATTTTTAGTACAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCAGGTGGTCCATCTGCCTTGGCCTCCCAAATTGCTGGGATTACAGGCATGAGCCACTGTGCCCAGCCCCTTAGACTTTCGAGATGGAACTTGGGAGGGAGGCAAGGAAGGGAACAAGCCACTGGCTCCAGCACCATACCCGCAAACAGAGGTCCTGAATCAGAATCCTCCGTGACCTTCAGAAAAATCTGTCAAGAAGAAAAAAAGAGAGAATTTTGTTTAGTCATTCTTATTCTCAGAAAAATCTAACCCAAGCTCTGTTTTGTTGGGTATTGCTTCATAATGGGAAGAAAATCCATTACGACTCTATCTGAGAACATCATCTTCTATAAATACAAAAACGTAAGCACACAGTAACCACAAGTACATAAAATTTGTATGCATGCAGAGATGGGGGAACTATGCCAAAAATAAAGATAGTTGCTATGCTTGGGTGGGGAACGATGGCTTTTTGCTTTTACAAAACTTTGCTCTAATGTTAGACTTTTTCAAAGAACCGCCACTTCTGGCACTTGACAGAAACCAGCTGGAATCTCTACTTTACCTCTTCCAGGGGAGTGTCAGAAATTCCAAAACTGCTGAGACCAAGGTCAGCCAGCGTCTCCTCCAGCTCTCTGAAAAGGCTGGCATATGCTCTGTGCTTGAAGTTCTTATTTGGAAGAAGGAAGATAAGTTCTTGACCAATGCACTCCACCAGCTTTGCCTCTGGAACATGGTGGAGAACTACATCCATCAGCTCATTTACATCCCCTAGGACAAGAAAAAAGACTGATGCCAGCTCTGTTTTCCAGAAACTGGAAGACTGTGAGGTTACCCAGATTTCCTACTTCTCTCCACTTCCCCTTTGAAGAAGAGGTATTTTGTATCTCGGCAGTGACTCTTTCAGAGGACTGATGCTCCATCAAGTCTGCTTTTAGCTTAGTTGGCCCTGAGATCATCATTGAGAGGCAGAGGGAAACGGAAGCAAAGTCCTCCCGACTAGCTAGCTGTGCAACCTGGGGGCGGAGGTTGGTGGGGGGGTCATGCAACTTTCCTGTGCCAGTTCCTCCTCTGTTCAACGAAATGCTCTGTCCCCTCAAACTATGTTATGTTGGGTGGGTCACATTAGACTTTCCTCATCTGTGAAAAGGGGAAAATACTGGTATCCACTTCATTGTTGTTTTTGAGGACTGGATGAGTCAAACTACACAAAGCAGTTAGAGAAATACCTGGCACATAGGTGAGTGCTGGCTGCTATTATTATCCTTTACATCATCTCGGTAAGAAATCTCTTACTCATGGTTGTTTTTCATTCTCATTCACTGAAAACTTGAGGGCTAAGTCAAAGTTGTTTTCATTTTTCTGGTCTGTCACCAGCTATGGGGGACTTGCCCAAGACACAAACCTGGAACCGGTGACCAAGCTGAGTGAGAAGTACCTTCCCTAAATCACACACACATGCCTACTCTAACTTCTCAGAAGATTGCACAGTTTCTCTTGGGATTGCACCTGCCTCCACAAACAAAACTGAATCCTCAGGTCACAGGAAATGCAGAGGGGGGGTTGAGAAGCCATGGAGAGAGGCTGGGGGAGAGGGTAGGATATGCGGTGCGTATCATAGACTGTGAACAAGTGTCAGGTATCAACTGTTTATCTGACACATGTATACAGTCAGAATTGAATTTTATGTACAAATGTGTATTACTTTAAAATTAAAAATCTAACTGTGAAAACCTCACTTGCATGCACTTGAAGAGAGAGTTCTCTCGCACATTGTCTTGAGAGGCAGGTCAAAGGGAGAGGGATTCCAGGACTCAAAACATGACTCTTCAGAAAGCAGCTCTCAGAGTTGTGGACACCCAGTAGGTTCTTTTCTTTTTTTGTTGTTTAAAAAATGATCCATATGAAGGGATTTCATGGTTTTCAACCAAAATCCTTCTGCCTAGCCGGATTGGAAGTCTTGCTTTATGTCAAATCTGCAAGTTGGACTTGATTGTCTTTAGCTCTGAGATGACTTCATACGGAGGCTGGAGAGTCCTTTACGTTAAGGAAGCAGCTCTGCCCTAATAGCTCTCCAGGGGTCATATTCATTGTTCTTTTAGGAAGGAAATTGAACCCAAAGCTGCTGGATTCCCAGGAATTGTGTCTTAGGCATGTGTCAGCCTTTCCAGAAGTAGCTCTGTAGGTCAGCAGGGCTTTGGGCATCTGGGAGGGAGGTCTGTGAGTGTGTGTGTGGTATGTGGGTGTGTTTAAGTGAAAAGACTTTCAAGGAGCTAACTGGGGATTCAAATGATTTTCCCTTTCTTATTTGGGGCATAACTATTTAGTGCATTTCCCACCATTCACAGCATCCCGATTCTATACAAAGAAAACCTTTATTTAGAAATAAAGTAATTTAAAAAAAAGAATCATTCAGCCATGCAGGCCCTGTTTCCAATCTGATTTTGGCAAATCACAGTAACTTAACATATTAGTATCAATTTAAAACAAATATAAACTTCTTGACCAAGGTTCAGAGAGCAGGGAGATAGGTACCCACAGCAAGGCAGGCTAGGAGAAAGACCCAGAGATGTCATCCTAAAAAGATGTTTTCTGTTCATCACAGGGTCTCTCAGTGTAA
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GAACATCCTGTTCTATGCCTATGCTGACTAAACAGTCCTCTGATGTGTAATTTATTCTCCTGAGAGGGCCTATTTATCAAGAAGGAATATTCTGCACAGGTAAAAGGCCCTAACTCTTGAATCCAGCAAAGCTTCTGATATAAATTAGCATATTTTCATTCTGGTCTTGGTTAATATGAGTCTTTGACATTGGGTGAGCTGAGATTATTCAATTTCTGTGTCAGCAGAGCTTGAAAGAAACTTGGGTTCTGTGGTGAATTGCTGCTGTCCCCTGGAGAGGACTGCTTCCTGCCCCACACCCACTGTGCCAGGACGACTACATCTTTTGGTCACCATGCGATGTACTGGGATGGGCTGAAGCATATCTGGGCTGGTATATGTGTCCATTGGTAGTTCTAGGCATAGTAGATAGATGTTTGGGATCATTATGAAGAAAGATGAAAACCAAGTTATCTTAAGAGCTGATTCCAGAATCCACATAGAAAGGAAACACTCCAACAGGAAAACACTGAAATATGCCACACTGGAAAGAAGGAGGTAACTGGTGGTTTAGGAGGTGTTAGGAGCCCAGGGGCAGCAAAGGAGAATCGCTGCAAAGCTTTGCCTGTACCAGGAGAGGATTTTACAGTGTGGGTGGACACCTCGTGTTCTATCAGAAGTGGTTTCTGTTTGTGTGGCAGGTAACCCTTCCACACATCTATCTCCCCACCCTCCACCCTCTGCTGTAAACTCTGCTACACTCACACATGCTTTGTGTGGCTGTGGGTTTGATAAAAGTTCATGGAAGGAGCTAGTTGGTGCCCAGGCTGACACATGTAGAAGAGAGACTTCTAGAATCCACAGGAATTTTGGTCCCCATGTTTTCAAAGCCCATAGACCACTAAATAAGGGTTCAAAATGATTTTATGTTGATCTCAAAGGGGCCAGGAGACTGACGTCTGAGTTGTATTTGATAAACATTAAGGACTCTGCCAGCTGTCACTCATGCAGACAGAGATGGATCAGAGGCCTGGTGGAGATGACAGGAGGAGATGAGGATGATGACATGGCAGGCCGAGAGACTGGGGATACAGCATGAGGAGCTGAGGGATGAAGCTACCAACCTGACCTCCGTAAGAATCCTCATTCATCCAAAGTGTCCCCATCTAGACCTAACTCAGTCTGTTATTCCTTTGTCACTCAAAGCCATCTAGGATGCAAAATGCCTACTACTGGGGAGTCAGATACTATGGAGGAGTATTTGCCTGCTTTGTTGTTTCATGACTTTTTCCTTAGACTTTTTTTTTTTTTTGAGATGGATTTTGCTCTTGTCGCTCAGGCTGCAGTGCAGTGGCACAATCTCTGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGTGCGCGCCACCACACCTAGCTAATTTTTGTATTTTTAGTACAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCAGGTGGTCCATCTGCCTTGGCCTCCCAAATTGCTGGGATTACAGGCATGAGCCACTGTGCCCAGCCCCTTAGACTTTCGAGATGGAACTTGGGAGGGAGGCAAGGAAGGGAACAAGCCACTGGCTCCAGCACCATACCCGCAAACAGAGGTCCTGAATCAGAATCCTCCGTGACCTTCAGAAAAATCTGTCAAGAAGAAAAAAAGAGAGAATTTTGTTTAGTCATTCTTATTCTCAGAAAAATCTAACCCAAGCTCTGTTTTGTTGGGTATTGCTTCATAATGGGAAGAAAATCCATTACGACTCTATCTGAGAACATCATCTTCTATAAATACAAAAACGTAAGCACACAGTAACCACAAGTACATAAAATTTGTATGCATGCAGAGATGGGGGAACTATGCCAAAAATAAAGATAGTTGCTATGCTTGGGTGGGGAACGATGGCTTTTTGCTTTTACAAAACTTTGCTCTAATGTTAGACTTTTTCAAAGAACCGCCACTTCTGGCACTTGACAGAAACCAGCTGGAATCTCTACTTTACCTCTTCCTGGGGAGTGTCAGAAATTCCAAAACTGCTGAGACCAAGGTCAGCCAGCGTCTCCTCCAGCTCTCTGAAAAGGCTGGCATATGCTCTGTGCTTGAAGTTCTTATTTGGAAGAAGGAAGATAAGTTCTTGACCAATGCACTCCACCAGCTTTGCCTCTGGAACATGGTGGAGAACTACATCCATCAGCTCATTTACATCCCCTAGGACAAGAAAAAAGACTGATGCCAGCTCTGTTTTCCAGAAACTGGAAGACTGTGAGGTTACCCAGATTTCCTACTTCTCTCCACTTCCCCTTTGAAGAAGAGGTATTTTGTATCTCGGCAGTGACTCTTTCAGAGGACTGATGCTCCATCAAGTCTGCTTTTAGCTTAGTTGGCCCTGAGATCATCATTGAGAGGCAGAGGGAAACGGAAGCAAAGTCCTCCCGACTAGCTAGCTGTGCAACCTGGGGGCGGAGGTTGGTGGGGGGGTCATGCAACTTTCCTGTGCCAGTTCCTCCTCTGTTCAACGAAATGCTCTGTCCCCTCAAACTATGTTATGTTGGGTGGGTCACATTAGACTTTCCTCATCTGTGAAAAGGGGAAAATACTGGTATCCACTTCATTGTTGTTTTTGAGGACTGGATGAGTCAAACTACACAAAGCAGTTAGAGAAATACCTGGCACATAGGTGAGTGCTGGCTGCTATTATTATCCTTTACATCATCTCGGTAAGAAATCTCTTACTCATGGTTGTTTTTCATTCTCATTCACTGAAAACTTGAGGGCTAAGTCAAAGTTGTTTTCATTTTTCTGGTCTGTCACCAGCTATGGGGGACTTGCCCAAGACACAAACCTGGAACCGGTGACCAAGCTGAGTGAGAAGTACCTTCCCTAAATCACACACACATGCCTACTCTAACTTCTCAGAAGATTGCACAGTTTCTCTTGGGATTGCACCTGCCTCCACAAACAAAACTGAATCCTCAGGTCACAGGAAATGCAGAGGGGGGGTTGAGAAGCCATGGAGAGAGGCTGGGGGAGAGGGTAGGATATGCGGTGCGTATCATAGACTGTGAACAAGTGTCAGGTATCAACTGTTTATCTGACACATGTATACAGTCAGAATTGAATTTTATGTACAAATGTGTATTACTTTAAAATTAAAAATCTAACTGTGAAAACCTCACTTGCATGCACTTGAAGAGAGAGTTCTCTCGCACATTGTCTTGAGAGGCAGGTCAAAGGGAGAGGGATTCCAGGACTCAAAACATGACTCTTCAGAAAGCAGCTCTCAGAGTTGTGGACACCCAGTAGGTTCTTTTCTTTTTTTGTTGTTTAAAAAATGATCCATATGAAGGGATTTCATGGTTTTCAACCAAAATCCTTCTGCCTAGCCGGATTGGAAGTCTTGCTTTATGTCAAATCTGCAAGTTGGACTTGATTGTCTTTAGCTCTGAGATGACTTCATACGGAGGCTGGAGAGTCCTTTACGTTAAGGAAGCAGCTCTGCCCTAATAGCTCTCCAGGGGTCATATTCATTGTTCTTTTAGGAAGGAAATTGAACCCAAAGCTGCTGGATTCCCAGGAATTGTGTCTTAGGCATGTGTCAGCCTTTCCAGAAGTAGCTCTGTAGGTCAGCAGGGCTTTGGGCATCTGGGAGGGAGGTCTGTGAGTGTGTGTGTGGTATGTGGGTGTGTTTAAGTGAAAAGACTTTCAAGGAGCTAACTGGGGATTCAAATGATTTTCCCTTTCTTATTTGGGGCATAACTATTTAGTGCATTTCCCACCATTCACAGCATCCCGATTCTATACAAAGAAAACCTTTATTTAGAAATAAAGTAATTTAAAAAAAAGAATCATTCAGCCATGCAGGCCCTGTTTCCAATCTGATTTTGGCAAATCACAGTAACTTAACATATTAGTATCAATTTAAAACAAATATAAACTTCTTGACCAAGGTTCAGAGAGCAGGGAGATAGGTACCCACAGCAAGGCAGGCTAGGAGAAAGACCCAGAGATGTCATCCTAAAAAGATGTTTTCTGTTCATCACAGGGTCTCTCAGTGTAA
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Task1_train_1194
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A variant found in Chromosome 1 affects ABCA4 (ATP binding cassette subfamily A member 4). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; not provided
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ATCAGACAACGCAAATATTGCCCGGTTCTCTTGCTTCACCAGATTTCAGTTAGTAAATTCTTAACATTTGAAAAAGTTTGTGCTAAATAGAAAAATATGCCTTTTCTTTGATAAGCAGATACTTTCCCCATTCATTAACCTGCATCAGTACGTAAGTTTAGTTTTGCTCCTGTGTGGGAATACGCTTCTCACACATTCTCTCACATAGAGAGGGGATAGCCTCTCCACTGCAGCTCCTTGGAGATGGGGGCACCCCTGAGAGCTTCAGTGCATCCTAATTAAAGGGAGAATCACTGGGAAATTGGGAAGCTGAGGGGAGAATCAGGAGTATAACAGGGGTGTATGCTATTTCCAGACTTGCCATCCACATGTGCAATCTCTGACTCCACGAATTCACTGGAAGAGCCGTGCATCACCATGCTTCCACTAGAGGGCGCCACGGCACACATGTAGAAGAAGCTCTCCCCAGACACTAAGGAATGTGGCCTGGAGCCAGGGCAGGGGGACCCCAGGAATGATGGCTTACTAAGGGTAAGAGCACAGAGTGTATTCCTCATTAAAGGGAGAGGGCCTTTAGGTGCATGACTTTTAAAATCCCTTTGGGAATGAAGGAAGAAGGAAGAGGAGAAAGAAGCTCAAAGCAAAAGAACAACTGTGTGACCTGCAGAAGTACCCAGTGTTCTCTTTGCTCCCATTAAAATGCATCACAACAGGACACACCCAGCAATACTGGGAGATGGCTGCCAGACGGAACCCAAGTATGGCCCGTCCAGTCCTTACCATCCAGGACTTGTTCTGGAGTTAGGTCATCGACGTGGGCTGGACACGTGGTGGAGAAACCCTTAGACGAGCAGCTGCAGGTCCCCTGCAACAGATGGATGGGATGACTGACAAGATGCACATCCCTTCCATGACAGCCTCTCCCTGATGCCAGCTGCTGTCACCGCCCGCTTTATTTATTTCTCACTGCCAAGTGTAGTCAACACATTTTTTTCTTCACTGTTTAATCTGTTAATTCATCTGAGCATTTTGAGGGTGTAGTCGCTTGATTTTATCCTAGAGAGTGTGTGAGTCACACACAGAGAGGAGCAGAACCTCCAAGGGTCCCTTTGGCTTGTCATCAATTATGTGGCAGCTGTAGGTTCTGCCTGTGGGAGACATTCTGTGCCTCCCTCCCCGTGGATGGACATAGGAAACCCCAGCGGCAGCCAGACACTTAAACCAGAGGCATAAATAATGCTGCCATATCATAATCATGACCATTTGAATGTGAGCAATGCCTGTTCTTAAGAAGCCCAGAGCACATTTATAATACTTTATCTCACTTATCTTCACATCCCTAAGAAATAGAAGCAGAGGTCATTAGCTTCATGTTCCATGTGAAGAAGAAAAAAATACTAAAAAAAAGGAGGAATTAAATAATTTGCCTAGGATGACACAGTTTGTTCACTTCGCAGCACAGACATAAAACTGGGTCTCCTGATGTGCTGAAGTGGTCTCTGCTGGTTGGTACTTTTTGCCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCAGCCCCGTGCTGTGTGCTCCTTCTCACCCAGGCCAGGGTCCTTCCCTGGGCAGACACCTACCTCACTGCCTTTCCTTTGGCTCTGGATGTTTTTCATCTTGCGCACCAAGGTTAAGTACAAGCCTGTGCCAAAGCAGTTCTTCAGGAAGAGTGGGGTGCCTGAGCAGTAGAGCCTTCCCTGGGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCA
|
ATCAGACAACGCAAATATTGCCCGGTTCTCTTGCTTCACCAGATTTCAGTTAGTAAATTCTTAACATTTGAAAAAGTTTGTGCTAAATAGAAAAATATGCCTTTTCTTTGATAAGCAGATACTTTCCCCATTCATTAACCTGCATCAGTACGTAAGTTTAGTTTTGCTCCTGTGTGGGAATACGCTTCTCACACATTCTCTCACATAGAGAGGGGATAGCCTCTCCACTGCAGCTCCTTGGAGATGGGGGCACCCCTGAGAGCTTCAGTGCATCCTAATTAAAGGGAGAATCACTGGGAAATTGGGAAGCTGAGGGGAGAATCAGGAGTATAACAGGGGTGTATGCTATTTCCAGACTTGCCATCCACATGTGCAATCTCTGACTCCACGAATTCACTGGAAGAGCCGTGCATCACCATGCTTCCACTAGAGGGCGCCACGGCACACATGTAGAAGAAGCTCTCCCCAGACACTAAGGAATGTGGCCTGGAGCCAGGGCAGGGGGACCCCAGGAATGATGGCTTACTAAGGGTAAGAGCACAGAGTGTATTCCTCATTAAAGGGAGAGGGCCTTTAGGTGCATGACTTTTAAAATCCCTTTGGGAATGAAGGAAGAAGGAAGAGGAGAAAGAAGCTCAAAGCAAAAGAACAACTGTGTGACCTGCAGAAGTACCCAGTGTTCTCTTTGCTCCCATTAAAATGCATCACAACAGGACACACCCAGCAATACTGGGAGATGGCTGCCAGACGGAACCCAAGTATGGCCCGTCCAGTCCTTACCATCCAGGACTTGTTCTGGAGTTAGGTCATCGACGTGGGCTGGACACGTGGTGGAGAAACCCTTAGACGAGCAGCTGCAGGTCCCCTGCAACAGATGGATGGGATGACTGACAAGATGCACATCCCTTCCATGACAGCCTCTCCCTGATGCCAGCTGCTGTCACCGCCCGCTTTATTTATTTCTCACTGCCAAGTGTAGTCAACACATTTTTTTCTTCACTGTTTAATCTGTTAATTCATCTGAGCATTTTGAGGGTGTAGTCGCTTGATTTTATCCTAGAGAGTGTGTGAGTCACACACAGAGAGGAGCAGAACCTCCAAGGGTCCCTTTGGCTTGTCATCAATTATGTGGCAGCTGTAGGTTCTGCCTGTGGGAGACATTCTGTGCCTCCCTCCCCGTGGATGGACATAGGAAACCCCAGCGGCAGCCAGACACTTAAACCAGAGGCATAAATAATGCTGCCATATCATAATCATGACCATTTGAATGTGAGCAATGCCTGTTCTTAAGAAGCCCAGAGCACATTTATAATACTTTATCTCACTTATCTTCACATCCCTAAGAAATAGAAGCAGAGGTCATTAGCTTCATGTTCCATGTGAAGAAGAAAAAAATACTAAAAAAAAGGAGGAATTAAATAATTTGCCTAGGATGACACAGTTTGTTCACTTCGCAGCACAGACATAAAACTGGGTCTCCTGATGTGCTGAAGTGGTCTCTGCTGGTTGGTACTTTTTGCCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCAGCCCCGTGCTGTGTGCTCCTTCTCACCCAGGCCAGGGTCCTTCCCTGGGCAGACACCTACCTCACTGCCTTTCCTTTGGCTCTGGATGTTTTTCATCTTGCGCACCAAGGTTAAGTACAAGCCTGTGCCAAAGCAGTTCTTCAGGAAGAGTGGGGTGCCTGACCAGTAGAGCCTTCCCTGGGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCA
|
Task1_train_1195
|
Gene ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
|
Pathogenic; not provided
|
AATATTGCCCGGTTCTCTTGCTTCACCAGATTTCAGTTAGTAAATTCTTAACATTTGAAAAAGTTTGTGCTAAATAGAAAAATATGCCTTTTCTTTGATAAGCAGATACTTTCCCCATTCATTAACCTGCATCAGTACGTAAGTTTAGTTTTGCTCCTGTGTGGGAATACGCTTCTCACACATTCTCTCACATAGAGAGGGGATAGCCTCTCCACTGCAGCTCCTTGGAGATGGGGGCACCCCTGAGAGCTTCAGTGCATCCTAATTAAAGGGAGAATCACTGGGAAATTGGGAAGCTGAGGGGAGAATCAGGAGTATAACAGGGGTGTATGCTATTTCCAGACTTGCCATCCACATGTGCAATCTCTGACTCCACGAATTCACTGGAAGAGCCGTGCATCACCATGCTTCCACTAGAGGGCGCCACGGCACACATGTAGAAGAAGCTCTCCCCAGACACTAAGGAATGTGGCCTGGAGCCAGGGCAGGGGGACCCCAGGAATGATGGCTTACTAAGGGTAAGAGCACAGAGTGTATTCCTCATTAAAGGGAGAGGGCCTTTAGGTGCATGACTTTTAAAATCCCTTTGGGAATGAAGGAAGAAGGAAGAGGAGAAAGAAGCTCAAAGCAAAAGAACAACTGTGTGACCTGCAGAAGTACCCAGTGTTCTCTTTGCTCCCATTAAAATGCATCACAACAGGACACACCCAGCAATACTGGGAGATGGCTGCCAGACGGAACCCAAGTATGGCCCGTCCAGTCCTTACCATCCAGGACTTGTTCTGGAGTTAGGTCATCGACGTGGGCTGGACACGTGGTGGAGAAACCCTTAGACGAGCAGCTGCAGGTCCCCTGCAACAGATGGATGGGATGACTGACAAGATGCACATCCCTTCCATGACAGCCTCTCCCTGATGCCAGCTGCTGTCACCGCCCGCTTTATTTATTTCTCACTGCCAAGTGTAGTCAACACATTTTTTTCTTCACTGTTTAATCTGTTAATTCATCTGAGCATTTTGAGGGTGTAGTCGCTTGATTTTATCCTAGAGAGTGTGTGAGTCACACACAGAGAGGAGCAGAACCTCCAAGGGTCCCTTTGGCTTGTCATCAATTATGTGGCAGCTGTAGGTTCTGCCTGTGGGAGACATTCTGTGCCTCCCTCCCCGTGGATGGACATAGGAAACCCCAGCGGCAGCCAGACACTTAAACCAGAGGCATAAATAATGCTGCCATATCATAATCATGACCATTTGAATGTGAGCAATGCCTGTTCTTAAGAAGCCCAGAGCACATTTATAATACTTTATCTCACTTATCTTCACATCCCTAAGAAATAGAAGCAGAGGTCATTAGCTTCATGTTCCATGTGAAGAAGAAAAAAATACTAAAAAAAAGGAGGAATTAAATAATTTGCCTAGGATGACACAGTTTGTTCACTTCGCAGCACAGACATAAAACTGGGTCTCCTGATGTGCTGAAGTGGTCTCTGCTGGTTGGTACTTTTTGCCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCAGCCCCGTGCTGTGTGCTCCTTCTCACCCAGGCCAGGGTCCTTCCCTGGGCAGACACCTACCTCACTGCCTTTCCTTTGGCTCTGGATGTTTTTCATCTTGCGCACCAAGGTTAAGTACAAGCCTGTGCCAAAGCAGTTCTTCAGGAAGAGTGGGGTGCCTGAGCAGTAGAGCCTTCCCTGGGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGT
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AATATTGCCCGGTTCTCTTGCTTCACCAGATTTCAGTTAGTAAATTCTTAACATTTGAAAAAGTTTGTGCTAAATAGAAAAATATGCCTTTTCTTTGATAAGCAGATACTTTCCCCATTCATTAACCTGCATCAGTACGTAAGTTTAGTTTTGCTCCTGTGTGGGAATACGCTTCTCACACATTCTCTCACATAGAGAGGGGATAGCCTCTCCACTGCAGCTCCTTGGAGATGGGGGCACCCCTGAGAGCTTCAGTGCATCCTAATTAAAGGGAGAATCACTGGGAAATTGGGAAGCTGAGGGGAGAATCAGGAGTATAACAGGGGTGTATGCTATTTCCAGACTTGCCATCCACATGTGCAATCTCTGACTCCACGAATTCACTGGAAGAGCCGTGCATCACCATGCTTCCACTAGAGGGCGCCACGGCACACATGTAGAAGAAGCTCTCCCCAGACACTAAGGAATGTGGCCTGGAGCCAGGGCAGGGGGACCCCAGGAATGATGGCTTACTAAGGGTAAGAGCACAGAGTGTATTCCTCATTAAAGGGAGAGGGCCTTTAGGTGCATGACTTTTAAAATCCCTTTGGGAATGAAGGAAGAAGGAAGAGGAGAAAGAAGCTCAAAGCAAAAGAACAACTGTGTGACCTGCAGAAGTACCCAGTGTTCTCTTTGCTCCCATTAAAATGCATCACAACAGGACACACCCAGCAATACTGGGAGATGGCTGCCAGACGGAACCCAAGTATGGCCCGTCCAGTCCTTACCATCCAGGACTTGTTCTGGAGTTAGGTCATCGACGTGGGCTGGACACGTGGTGGAGAAACCCTTAGACGAGCAGCTGCAGGTCCCCTGCAACAGATGGATGGGATGACTGACAAGATGCACATCCCTTCCATGACAGCCTCTCCCTGATGCCAGCTGCTGTCACCGCCCGCTTTATTTATTTCTCACTGCCAAGTGTAGTCAACACATTTTTTTCTTCACTGTTTAATCTGTTAATTCATCTGAGCATTTTGAGGGTGTAGTCGCTTGATTTTATCCTAGAGAGTGTGTGAGTCACACACAGAGAGGAGCAGAACCTCCAAGGGTCCCTTTGGCTTGTCATCAATTATGTGGCAGCTGTAGGTTCTGCCTGTGGGAGACATTCTGTGCCTCCCTCCCCGTGGATGGACATAGGAAACCCCAGCGGCAGCCAGACACTTAAACCAGAGGCATAAATAATGCTGCCATATCATAATCATGACCATTTGAATGTGAGCAATGCCTGTTCTTAAGAAGCCCAGAGCACATTTATAATACTTTATCTCACTTATCTTCACATCCCTAAGAAATAGAAGCAGAGGTCATTAGCTTCATGTTCCATGTGAAGAAGAAAAAAATACTAAAAAAAAGGAGGAATTAAATAATTTGCCTAGGATGACACAGTTTGTTCACTTCGCAGCACAGACATAAAACTGGGTCTCCTGATGTGCTGAAGTGGTCTCTGCTGGTTGGTACTTTTTGCCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCAGCCCCGTGCTGTGTGCTCCTTCTCACCCAGGCCAGGGTCCTTCCCTGGGCAGACACCTACCTCACTGCCTTTCCTTTGGCTCTGGATGTTTTTCATCTTGCGCACCAAGGTTAAGTACAAGCCTGTGCCAAAGCAGTTCTTCAGGAAGAGTGGGGTGCCTGAGCAGTAGAGCCTTACCTGGGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGT
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Task1_train_1196
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Given this context: Chromosome 1, gene ABCA4 (ATP binding cassette subfamily A member 4) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; not provided
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CACCAGATTTCAGTTAGTAAATTCTTAACATTTGAAAAAGTTTGTGCTAAATAGAAAAATATGCCTTTTCTTTGATAAGCAGATACTTTCCCCATTCATTAACCTGCATCAGTACGTAAGTTTAGTTTTGCTCCTGTGTGGGAATACGCTTCTCACACATTCTCTCACATAGAGAGGGGATAGCCTCTCCACTGCAGCTCCTTGGAGATGGGGGCACCCCTGAGAGCTTCAGTGCATCCTAATTAAAGGGAGAATCACTGGGAAATTGGGAAGCTGAGGGGAGAATCAGGAGTATAACAGGGGTGTATGCTATTTCCAGACTTGCCATCCACATGTGCAATCTCTGACTCCACGAATTCACTGGAAGAGCCGTGCATCACCATGCTTCCACTAGAGGGCGCCACGGCACACATGTAGAAGAAGCTCTCCCCAGACACTAAGGAATGTGGCCTGGAGCCAGGGCAGGGGGACCCCAGGAATGATGGCTTACTAAGGGTAAGAGCACAGAGTGTATTCCTCATTAAAGGGAGAGGGCCTTTAGGTGCATGACTTTTAAAATCCCTTTGGGAATGAAGGAAGAAGGAAGAGGAGAAAGAAGCTCAAAGCAAAAGAACAACTGTGTGACCTGCAGAAGTACCCAGTGTTCTCTTTGCTCCCATTAAAATGCATCACAACAGGACACACCCAGCAATACTGGGAGATGGCTGCCAGACGGAACCCAAGTATGGCCCGTCCAGTCCTTACCATCCAGGACTTGTTCTGGAGTTAGGTCATCGACGTGGGCTGGACACGTGGTGGAGAAACCCTTAGACGAGCAGCTGCAGGTCCCCTGCAACAGATGGATGGGATGACTGACAAGATGCACATCCCTTCCATGACAGCCTCTCCCTGATGCCAGCTGCTGTCACCGCCCGCTTTATTTATTTCTCACTGCCAAGTGTAGTCAACACATTTTTTTCTTCACTGTTTAATCTGTTAATTCATCTGAGCATTTTGAGGGTGTAGTCGCTTGATTTTATCCTAGAGAGTGTGTGAGTCACACACAGAGAGGAGCAGAACCTCCAAGGGTCCCTTTGGCTTGTCATCAATTATGTGGCAGCTGTAGGTTCTGCCTGTGGGAGACATTCTGTGCCTCCCTCCCCGTGGATGGACATAGGAAACCCCAGCGGCAGCCAGACACTTAAACCAGAGGCATAAATAATGCTGCCATATCATAATCATGACCATTTGAATGTGAGCAATGCCTGTTCTTAAGAAGCCCAGAGCACATTTATAATACTTTATCTCACTTATCTTCACATCCCTAAGAAATAGAAGCAGAGGTCATTAGCTTCATGTTCCATGTGAAGAAGAAAAAAATACTAAAAAAAAGGAGGAATTAAATAATTTGCCTAGGATGACACAGTTTGTTCACTTCGCAGCACAGACATAAAACTGGGTCTCCTGATGTGCTGAAGTGGTCTCTGCTGGTTGGTACTTTTTGCCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCAGCCCCGTGCTGTGTGCTCCTTCTCACCCAGGCCAGGGTCCTTCCCTGGGCAGACACCTACCTCACTGCCTTTCCTTTGGCTCTGGATGTTTTTCATCTTGCGCACCAAGGTTAAGTACAAGCCTGTGCCAAAGCAGTTCTTCAGGAAGAGTGGGGTGCCTGAGCAGTAGAGCCTTCCCTGGGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATG
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CACCAGATTTCAGTTAGTAAATTCTTAACATTTGAAAAAGTTTGTGCTAAATAGAAAAATATGCCTTTTCTTTGATAAGCAGATACTTTCCCCATTCATTAACCTGCATCAGTACGTAAGTTTAGTTTTGCTCCTGTGTGGGAATACGCTTCTCACACATTCTCTCACATAGAGAGGGGATAGCCTCTCCACTGCAGCTCCTTGGAGATGGGGGCACCCCTGAGAGCTTCAGTGCATCCTAATTAAAGGGAGAATCACTGGGAAATTGGGAAGCTGAGGGGAGAATCAGGAGTATAACAGGGGTGTATGCTATTTCCAGACTTGCCATCCACATGTGCAATCTCTGACTCCACGAATTCACTGGAAGAGCCGTGCATCACCATGCTTCCACTAGAGGGCGCCACGGCACACATGTAGAAGAAGCTCTCCCCAGACACTAAGGAATGTGGCCTGGAGCCAGGGCAGGGGGACCCCAGGAATGATGGCTTACTAAGGGTAAGAGCACAGAGTGTATTCCTCATTAAAGGGAGAGGGCCTTTAGGTGCATGACTTTTAAAATCCCTTTGGGAATGAAGGAAGAAGGAAGAGGAGAAAGAAGCTCAAAGCAAAAGAACAACTGTGTGACCTGCAGAAGTACCCAGTGTTCTCTTTGCTCCCATTAAAATGCATCACAACAGGACACACCCAGCAATACTGGGAGATGGCTGCCAGACGGAACCCAAGTATGGCCCGTCCAGTCCTTACCATCCAGGACTTGTTCTGGAGTTAGGTCATCGACGTGGGCTGGACACGTGGTGGAGAAACCCTTAGACGAGCAGCTGCAGGTCCCCTGCAACAGATGGATGGGATGACTGACAAGATGCACATCCCTTCCATGACAGCCTCTCCCTGATGCCAGCTGCTGTCACCGCCCGCTTTATTTATTTCTCACTGCCAAGTGTAGTCAACACATTTTTTTCTTCACTGTTTAATCTGTTAATTCATCTGAGCATTTTGAGGGTGTAGTCGCTTGATTTTATCCTAGAGAGTGTGTGAGTCACACACAGAGAGGAGCAGAACCTCCAAGGGTCCCTTTGGCTTGTCATCAATTATGTGGCAGCTGTAGGTTCTGCCTGTGGGAGACATTCTGTGCCTCCCTCCCCGTGGATGGACATAGGAAACCCCAGCGGCAGCCAGACACTTAAACCAGAGGCATAAATAATGCTGCCATATCATAATCATGACCATTTGAATGTGAGCAATGCCTGTTCTTAAGAAGCCCAGAGCACATTTATAATACTTTATCTCACTTATCTTCACATCCCTAAGAAATAGAAGCAGAGGTCATTAGCTTCATGTTCCATGTGAAGAAGAAAAAAATACTAAAAAAAAGGAGGAATTAAATAATTTGCCTAGGATGACACAGTTTGTTCACTTCGCAGCACAGACATAAAACTGGGTCTCCTGATGTGCTGAAGTGGTCTCTGCTGGTTGGTACTTTTTGCCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCAGCCCCGTGCTGTGTGCTCCTTCTCACCCAGGCCAGGGTCCTTCCCTGGGCAGACACCTACCTCACTGCCTTTCCTTTGGCTCTGGATGTTTTTCATCTTGCGCACCAAGGTTAAGTACAAGCCTGTGCCAAAGCAGTTCTTCAGGAAGAGTGGGGTGCCTGAGCAGTAGAGCCTTCCCTGGGCAATGATGGCAATGCGTTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATG
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Task1_train_1197
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A variant was discovered on Chromosome 1, affecting ABCA4 (ATP binding cassette subfamily A member 4). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; not provided
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AGATTTCAGTTAGTAAATTCTTAACATTTGAAAAAGTTTGTGCTAAATAGAAAAATATGCCTTTTCTTTGATAAGCAGATACTTTCCCCATTCATTAACCTGCATCAGTACGTAAGTTTAGTTTTGCTCCTGTGTGGGAATACGCTTCTCACACATTCTCTCACATAGAGAGGGGATAGCCTCTCCACTGCAGCTCCTTGGAGATGGGGGCACCCCTGAGAGCTTCAGTGCATCCTAATTAAAGGGAGAATCACTGGGAAATTGGGAAGCTGAGGGGAGAATCAGGAGTATAACAGGGGTGTATGCTATTTCCAGACTTGCCATCCACATGTGCAATCTCTGACTCCACGAATTCACTGGAAGAGCCGTGCATCACCATGCTTCCACTAGAGGGCGCCACGGCACACATGTAGAAGAAGCTCTCCCCAGACACTAAGGAATGTGGCCTGGAGCCAGGGCAGGGGGACCCCAGGAATGATGGCTTACTAAGGGTAAGAGCACAGAGTGTATTCCTCATTAAAGGGAGAGGGCCTTTAGGTGCATGACTTTTAAAATCCCTTTGGGAATGAAGGAAGAAGGAAGAGGAGAAAGAAGCTCAAAGCAAAAGAACAACTGTGTGACCTGCAGAAGTACCCAGTGTTCTCTTTGCTCCCATTAAAATGCATCACAACAGGACACACCCAGCAATACTGGGAGATGGCTGCCAGACGGAACCCAAGTATGGCCCGTCCAGTCCTTACCATCCAGGACTTGTTCTGGAGTTAGGTCATCGACGTGGGCTGGACACGTGGTGGAGAAACCCTTAGACGAGCAGCTGCAGGTCCCCTGCAACAGATGGATGGGATGACTGACAAGATGCACATCCCTTCCATGACAGCCTCTCCCTGATGCCAGCTGCTGTCACCGCCCGCTTTATTTATTTCTCACTGCCAAGTGTAGTCAACACATTTTTTTCTTCACTGTTTAATCTGTTAATTCATCTGAGCATTTTGAGGGTGTAGTCGCTTGATTTTATCCTAGAGAGTGTGTGAGTCACACACAGAGAGGAGCAGAACCTCCAAGGGTCCCTTTGGCTTGTCATCAATTATGTGGCAGCTGTAGGTTCTGCCTGTGGGAGACATTCTGTGCCTCCCTCCCCGTGGATGGACATAGGAAACCCCAGCGGCAGCCAGACACTTAAACCAGAGGCATAAATAATGCTGCCATATCATAATCATGACCATTTGAATGTGAGCAATGCCTGTTCTTAAGAAGCCCAGAGCACATTTATAATACTTTATCTCACTTATCTTCACATCCCTAAGAAATAGAAGCAGAGGTCATTAGCTTCATGTTCCATGTGAAGAAGAAAAAAATACTAAAAAAAAGGAGGAATTAAATAATTTGCCTAGGATGACACAGTTTGTTCACTTCGCAGCACAGACATAAAACTGGGTCTCCTGATGTGCTGAAGTGGTCTCTGCTGGTTGGTACTTTTTGCCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCAGCCCCGTGCTGTGTGCTCCTTCTCACCCAGGCCAGGGTCCTTCCCTGGGCAGACACCTACCTCACTGCCTTTCCTTTGGCTCTGGATGTTTTTCATCTTGCGCACCAAGGTTAAGTACAAGCCTGTGCCAAAGCAGTTCTTCAGGAAGAGTGGGGTGCCTGAGCAGTAGAGCCTTCCCTGGGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTT
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AGATTTCAGTTAGTAAATTCTTAACATTTGAAAAAGTTTGTGCTAAATAGAAAAATATGCCTTTTCTTTGATAAGCAGATACTTTCCCCATTCATTAACCTGCATCAGTACGTAAGTTTAGTTTTGCTCCTGTGTGGGAATACGCTTCTCACACATTCTCTCACATAGAGAGGGGATAGCCTCTCCACTGCAGCTCCTTGGAGATGGGGGCACCCCTGAGAGCTTCAGTGCATCCTAATTAAAGGGAGAATCACTGGGAAATTGGGAAGCTGAGGGGAGAATCAGGAGTATAACAGGGGTGTATGCTATTTCCAGACTTGCCATCCACATGTGCAATCTCTGACTCCACGAATTCACTGGAAGAGCCGTGCATCACCATGCTTCCACTAGAGGGCGCCACGGCACACATGTAGAAGAAGCTCTCCCCAGACACTAAGGAATGTGGCCTGGAGCCAGGGCAGGGGGACCCCAGGAATGATGGCTTACTAAGGGTAAGAGCACAGAGTGTATTCCTCATTAAAGGGAGAGGGCCTTTAGGTGCATGACTTTTAAAATCCCTTTGGGAATGAAGGAAGAAGGAAGAGGAGAAAGAAGCTCAAAGCAAAAGAACAACTGTGTGACCTGCAGAAGTACCCAGTGTTCTCTTTGCTCCCATTAAAATGCATCACAACAGGACACACCCAGCAATACTGGGAGATGGCTGCCAGACGGAACCCAAGTATGGCCCGTCCAGTCCTTACCATCCAGGACTTGTTCTGGAGTTAGGTCATCGACGTGGGCTGGACACGTGGTGGAGAAACCCTTAGACGAGCAGCTGCAGGTCCCCTGCAACAGATGGATGGGATGACTGACAAGATGCACATCCCTTCCATGACAGCCTCTCCCTGATGCCAGCTGCTGTCACCGCCCGCTTTATTTATTTCTCACTGCCAAGTGTAGTCAACACATTTTTTTCTTCACTGTTTAATCTGTTAATTCATCTGAGCATTTTGAGGGTGTAGTCGCTTGATTTTATCCTAGAGAGTGTGTGAGTCACACACAGAGAGGAGCAGAACCTCCAAGGGTCCCTTTGGCTTGTCATCAATTATGTGGCAGCTGTAGGTTCTGCCTGTGGGAGACATTCTGTGCCTCCCTCCCCGTGGATGGACATAGGAAACCCCAGCGGCAGCCAGACACTTAAACCAGAGGCATAAATAATGCTGCCATATCATAATCATGACCATTTGAATGTGAGCAATGCCTGTTCTTAAGAAGCCCAGAGCACATTTATAATACTTTATCTCACTTATCTTCACATCCCTAAGAAATAGAAGCAGAGGTCATTAGCTTCATGTTCCATGTGAAGAAGAAAAAAATACTAAAAAAAAGGAGGAATTAAATAATTTGCCTAGGATGACACAGTTTGTTCACTTCGCAGCACAGACATAAAACTGGGTCTCCTGATGTGCTGAAGTGGTCTCTGCTGGTTGGTACTTTTTGCCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCAGCCCCGTGCTGTGTGCTCCTTCTCACCCAGGCCAGGGTCCTTCCCTGGGCAGACACCTACCTCACTGCCTTTCCTTTGGCTCTGGATGTTTTTCATCTTGCGCACCAAGGTTAAGTACAAGCCTGTGCCAAAGCAGTTCTTCAGGAAGAGTGGGGTGCCTGAGCAGTAGAGCCTTCCCTGGGCAATGATGGCAATGCGGTCCTCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTT
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Task1_train_1198
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This gene mutation involves ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Retinal dystrophy
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ATTCTTAACATTTGAAAAAGTTTGTGCTAAATAGAAAAATATGCCTTTTCTTTGATAAGCAGATACTTTCCCCATTCATTAACCTGCATCAGTACGTAAGTTTAGTTTTGCTCCTGTGTGGGAATACGCTTCTCACACATTCTCTCACATAGAGAGGGGATAGCCTCTCCACTGCAGCTCCTTGGAGATGGGGGCACCCCTGAGAGCTTCAGTGCATCCTAATTAAAGGGAGAATCACTGGGAAATTGGGAAGCTGAGGGGAGAATCAGGAGTATAACAGGGGTGTATGCTATTTCCAGACTTGCCATCCACATGTGCAATCTCTGACTCCACGAATTCACTGGAAGAGCCGTGCATCACCATGCTTCCACTAGAGGGCGCCACGGCACACATGTAGAAGAAGCTCTCCCCAGACACTAAGGAATGTGGCCTGGAGCCAGGGCAGGGGGACCCCAGGAATGATGGCTTACTAAGGGTAAGAGCACAGAGTGTATTCCTCATTAAAGGGAGAGGGCCTTTAGGTGCATGACTTTTAAAATCCCTTTGGGAATGAAGGAAGAAGGAAGAGGAGAAAGAAGCTCAAAGCAAAAGAACAACTGTGTGACCTGCAGAAGTACCCAGTGTTCTCTTTGCTCCCATTAAAATGCATCACAACAGGACACACCCAGCAATACTGGGAGATGGCTGCCAGACGGAACCCAAGTATGGCCCGTCCAGTCCTTACCATCCAGGACTTGTTCTGGAGTTAGGTCATCGACGTGGGCTGGACACGTGGTGGAGAAACCCTTAGACGAGCAGCTGCAGGTCCCCTGCAACAGATGGATGGGATGACTGACAAGATGCACATCCCTTCCATGACAGCCTCTCCCTGATGCCAGCTGCTGTCACCGCCCGCTTTATTTATTTCTCACTGCCAAGTGTAGTCAACACATTTTTTTCTTCACTGTTTAATCTGTTAATTCATCTGAGCATTTTGAGGGTGTAGTCGCTTGATTTTATCCTAGAGAGTGTGTGAGTCACACACAGAGAGGAGCAGAACCTCCAAGGGTCCCTTTGGCTTGTCATCAATTATGTGGCAGCTGTAGGTTCTGCCTGTGGGAGACATTCTGTGCCTCCCTCCCCGTGGATGGACATAGGAAACCCCAGCGGCAGCCAGACACTTAAACCAGAGGCATAAATAATGCTGCCATATCATAATCATGACCATTTGAATGTGAGCAATGCCTGTTCTTAAGAAGCCCAGAGCACATTTATAATACTTTATCTCACTTATCTTCACATCCCTAAGAAATAGAAGCAGAGGTCATTAGCTTCATGTTCCATGTGAAGAAGAAAAAAATACTAAAAAAAAGGAGGAATTAAATAATTTGCCTAGGATGACACAGTTTGTTCACTTCGCAGCACAGACATAAAACTGGGTCTCCTGATGTGCTGAAGTGGTCTCTGCTGGTTGGTACTTTTTGCCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCAGCCCCGTGCTGTGTGCTCCTTCTCACCCAGGCCAGGGTCCTTCCCTGGGCAGACACCTACCTCACTGCCTTTCCTTTGGCTCTGGATGTTTTTCATCTTGCGCACCAAGGTTAAGTACAAGCCTGTGCCAAAGCAGTTCTTCAGGAAGAGTGGGGTGCCTGAGCAGTAGAGCCTTCCCTGGGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGC
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ATTCTTAACATTTGAAAAAGTTTGTGCTAAATAGAAAAATATGCCTTTTCTTTGATAAGCAGATACTTTCCCCATTCATTAACCTGCATCAGTACGTAAGTTTAGTTTTGCTCCTGTGTGGGAATACGCTTCTCACACATTCTCTCACATAGAGAGGGGATAGCCTCTCCACTGCAGCTCCTTGGAGATGGGGGCACCCCTGAGAGCTTCAGTGCATCCTAATTAAAGGGAGAATCACTGGGAAATTGGGAAGCTGAGGGGAGAATCAGGAGTATAACAGGGGTGTATGCTATTTCCAGACTTGCCATCCACATGTGCAATCTCTGACTCCACGAATTCACTGGAAGAGCCGTGCATCACCATGCTTCCACTAGAGGGCGCCACGGCACACATGTAGAAGAAGCTCTCCCCAGACACTAAGGAATGTGGCCTGGAGCCAGGGCAGGGGGACCCCAGGAATGATGGCTTACTAAGGGTAAGAGCACAGAGTGTATTCCTCATTAAAGGGAGAGGGCCTTTAGGTGCATGACTTTTAAAATCCCTTTGGGAATGAAGGAAGAAGGAAGAGGAGAAAGAAGCTCAAAGCAAAAGAACAACTGTGTGACCTGCAGAAGTACCCAGTGTTCTCTTTGCTCCCATTAAAATGCATCACAACAGGACACACCCAGCAATACTGGGAGATGGCTGCCAGACGGAACCCAAGTATGGCCCGTCCAGTCCTTACCATCCAGGACTTGTTCTGGAGTTAGGTCATCGACGTGGGCTGGACACGTGGTGGAGAAACCCTTAGACGAGCAGCTGCAGGTCCCCTGCAACAGATGGATGGGATGACTGACAAGATGCACATCCCTTCCATGACAGCCTCTCCCTGATGCCAGCTGCTGTCACCGCCCGCTTTATTTATTTCTCACTGCCAAGTGTAGTCAACACATTTTTTTCTTCACTGTTTAATCTGTTAATTCATCTGAGCATTTTGAGGGTGTAGTCGCTTGATTTTATCCTAGAGAGTGTGTGAGTCACACACAGAGAGGAGCAGAACCTCCAAGGGTCCCTTTGGCTTGTCATCAATTATGTGGCAGCTGTAGGTTCTGCCTGTGGGAGACATTCTGTGCCTCCCTCCCCGTGGATGGACATAGGAAACCCCAGCGGCAGCCAGACACTTAAACCAGAGGCATAAATAATGCTGCCATATCATAATCATGACCATTTGAATGTGAGCAATGCCTGTTCTTAAGAAGCCCAGAGCACATTTATAATACTTTATCTCACTTATCTTCACATCCCTAAGAAATAGAAGCAGAGGTCATTAGCTTCATGTTCCATGTGAAGAAGAAAAAAATACTAAAAAAAAGGAGGAATTAAATAATTTGCCTAGGATGACACAGTTTGTTCACTTCGCAGCACAGACATAAAACTGGGTCTCCTGATGTGCTGAAGTGGTCTCTGCTGGTTGGTACTTTTTGCCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCAGCCCCGTGCTGTGTGCTCCTTCTCACCCAGGCCAGGGTCCTTCCCTGGGCAGACACCTACCTCACTGCCTTTCCTTTGGCTCTGGATGTTTTTCATCTTGCGCACCAAGGTTAAGTACAAGCCTGTGCCAAAGCAGTTCTTCAGGAAGAGTGGGGTGCCTGAGCAGTAGAGCCTTCCCTGGGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTTGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGC
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Task1_train_1199
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A genetic alteration is present in ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; not provided
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TGAAAAAGTTTGTGCTAAATAGAAAAATATGCCTTTTCTTTGATAAGCAGATACTTTCCCCATTCATTAACCTGCATCAGTACGTAAGTTTAGTTTTGCTCCTGTGTGGGAATACGCTTCTCACACATTCTCTCACATAGAGAGGGGATAGCCTCTCCACTGCAGCTCCTTGGAGATGGGGGCACCCCTGAGAGCTTCAGTGCATCCTAATTAAAGGGAGAATCACTGGGAAATTGGGAAGCTGAGGGGAGAATCAGGAGTATAACAGGGGTGTATGCTATTTCCAGACTTGCCATCCACATGTGCAATCTCTGACTCCACGAATTCACTGGAAGAGCCGTGCATCACCATGCTTCCACTAGAGGGCGCCACGGCACACATGTAGAAGAAGCTCTCCCCAGACACTAAGGAATGTGGCCTGGAGCCAGGGCAGGGGGACCCCAGGAATGATGGCTTACTAAGGGTAAGAGCACAGAGTGTATTCCTCATTAAAGGGAGAGGGCCTTTAGGTGCATGACTTTTAAAATCCCTTTGGGAATGAAGGAAGAAGGAAGAGGAGAAAGAAGCTCAAAGCAAAAGAACAACTGTGTGACCTGCAGAAGTACCCAGTGTTCTCTTTGCTCCCATTAAAATGCATCACAACAGGACACACCCAGCAATACTGGGAGATGGCTGCCAGACGGAACCCAAGTATGGCCCGTCCAGTCCTTACCATCCAGGACTTGTTCTGGAGTTAGGTCATCGACGTGGGCTGGACACGTGGTGGAGAAACCCTTAGACGAGCAGCTGCAGGTCCCCTGCAACAGATGGATGGGATGACTGACAAGATGCACATCCCTTCCATGACAGCCTCTCCCTGATGCCAGCTGCTGTCACCGCCCGCTTTATTTATTTCTCACTGCCAAGTGTAGTCAACACATTTTTTTCTTCACTGTTTAATCTGTTAATTCATCTGAGCATTTTGAGGGTGTAGTCGCTTGATTTTATCCTAGAGAGTGTGTGAGTCACACACAGAGAGGAGCAGAACCTCCAAGGGTCCCTTTGGCTTGTCATCAATTATGTGGCAGCTGTAGGTTCTGCCTGTGGGAGACATTCTGTGCCTCCCTCCCCGTGGATGGACATAGGAAACCCCAGCGGCAGCCAGACACTTAAACCAGAGGCATAAATAATGCTGCCATATCATAATCATGACCATTTGAATGTGAGCAATGCCTGTTCTTAAGAAGCCCAGAGCACATTTATAATACTTTATCTCACTTATCTTCACATCCCTAAGAAATAGAAGCAGAGGTCATTAGCTTCATGTTCCATGTGAAGAAGAAAAAAATACTAAAAAAAAGGAGGAATTAAATAATTTGCCTAGGATGACACAGTTTGTTCACTTCGCAGCACAGACATAAAACTGGGTCTCCTGATGTGCTGAAGTGGTCTCTGCTGGTTGGTACTTTTTGCCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCAGCCCCGTGCTGTGTGCTCCTTCTCACCCAGGCCAGGGTCCTTCCCTGGGCAGACACCTACCTCACTGCCTTTCCTTTGGCTCTGGATGTTTTTCATCTTGCGCACCAAGGTTAAGTACAAGCCTGTGCCAAAGCAGTTCTTCAGGAAGAGTGGGGTGCCTGAGCAGTAGAGCCTTCCCTGGGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGA
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TGAAAAAGTTTGTGCTAAATAGAAAAATATGCCTTTTCTTTGATAAGCAGATACTTTCCCCATTCATTAACCTGCATCAGTACGTAAGTTTAGTTTTGCTCCTGTGTGGGAATACGCTTCTCACACATTCTCTCACATAGAGAGGGGATAGCCTCTCCACTGCAGCTCCTTGGAGATGGGGGCACCCCTGAGAGCTTCAGTGCATCCTAATTAAAGGGAGAATCACTGGGAAATTGGGAAGCTGAGGGGAGAATCAGGAGTATAACAGGGGTGTATGCTATTTCCAGACTTGCCATCCACATGTGCAATCTCTGACTCCACGAATTCACTGGAAGAGCCGTGCATCACCATGCTTCCACTAGAGGGCGCCACGGCACACATGTAGAAGAAGCTCTCCCCAGACACTAAGGAATGTGGCCTGGAGCCAGGGCAGGGGGACCCCAGGAATGATGGCTTACTAAGGGTAAGAGCACAGAGTGTATTCCTCATTAAAGGGAGAGGGCCTTTAGGTGCATGACTTTTAAAATCCCTTTGGGAATGAAGGAAGAAGGAAGAGGAGAAAGAAGCTCAAAGCAAAAGAACAACTGTGTGACCTGCAGAAGTACCCAGTGTTCTCTTTGCTCCCATTAAAATGCATCACAACAGGACACACCCAGCAATACTGGGAGATGGCTGCCAGACGGAACCCAAGTATGGCCCGTCCAGTCCTTACCATCCAGGACTTGTTCTGGAGTTAGGTCATCGACGTGGGCTGGACACGTGGTGGAGAAACCCTTAGACGAGCAGCTGCAGGTCCCCTGCAACAGATGGATGGGATGACTGACAAGATGCACATCCCTTCCATGACAGCCTCTCCCTGATGCCAGCTGCTGTCACCGCCCGCTTTATTTATTTCTCACTGCCAAGTGTAGTCAACACATTTTTTTCTTCACTGTTTAATCTGTTAATTCATCTGAGCATTTTGAGGGTGTAGTCGCTTGATTTTATCCTAGAGAGTGTGTGAGTCACACACAGAGAGGAGCAGAACCTCCAAGGGTCCCTTTGGCTTGTCATCAATTATGTGGCAGCTGTAGGTTCTGCCTGTGGGAGACATTCTGTGCCTCCCTCCCCGTGGATGGACATAGGAAACCCCAGCGGCAGCCAGACACTTAAACCAGAGGCATAAATAATGCTGCCATATCATAATCATGACCATTTGAATGTGAGCAATGCCTGTTCTTAAGAAGCCCAGAGCACATTTATAATACTTTATCTCACTTATCTTCACATCCCTAAGAAATAGAAGCAGAGGTCATTAGCTTCATGTTCCATGTGAAGAAGAAAAAAATACTAAAAAAAAGGAGGAATTAAATAATTTGCCTAGGATGACACAGTTTGTTCACTTCGCAGCACAGACATAAAACTGGGTCTCCTGATGTGCTGAAGTGGTCTCTGCTGGTTGGTACTTTTTGCCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCAGCCCCGTGCTGTGTGCTCCTTCTCACCCAGGCCAGGGTCCTTCCCTGGGCAGACACCTACCTCACTGCCTTTCCTTTGGCTCTGGATGTTTTTCATCTTGCGCACCAAGGTTAAGTACAAGCCTGTGCCAAAGCAGTTCTTCAGGAAGAGTGGGGTGCCTGAGCAGTAGAGCCTTCCCTGGGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTCAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGA
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Subsets and Splits
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