Datasets:
wanglab
/
variant_effect_coding

Dataset card Data Studio Files
xet
Community
ID
stringlengths
13
17
question
stringlengths
88
1.13k
answer
stringlengths
6
156
reference_sequence
stringlengths
4.1k
4.1k
variant_sequence
stringlengths
4.1k
4.1k
Task1_train_1200
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?
Pathogenic; not provided
TTTGTGCTAAATAGAAAAATATGCCTTTTCTTTGATAAGCAGATACTTTCCCCATTCATTAACCTGCATCAGTACGTAAGTTTAGTTTTGCTCCTGTGTGGGAATACGCTTCTCACACATTCTCTCACATAGAGAGGGGATAGCCTCTCCACTGCAGCTCCTTGGAGATGGGGGCACCCCTGAGAGCTTCAGTGCATCCTAATTAAAGGGAGAATCACTGGGAAATTGGGAAGCTGAGGGGAGAATCAGGAGTATAACAGGGGTGTATGCTATTTCCAGACTTGCCATCCACATGTGCAATCTCTGACTCCACGAATTCACTGGAAGAGCCGTGCATCACCATGCTTCCACTAGAGGGCGCCACGGCACACATGTAGAAGAAGCTCTCCCCAGACACTAAGGAATGTGGCCTGGAGCCAGGGCAGGGGGACCCCAGGAATGATGGCTTACTAAGGGTAAGAGCACAGAGTGTATTCCTCATTAAAGGGAGAGGGCCTTTAGGTGCATGACTTTTAAAATCCCTTTGGGAATGAAGGAAGAAGGAAGAGGAGAAAGAAGCTCAAAGCAAAAGAACAACTGTGTGACCTGCAGAAGTACCCAGTGTTCTCTTTGCTCCCATTAAAATGCATCACAACAGGACACACCCAGCAATACTGGGAGATGGCTGCCAGACGGAACCCAAGTATGGCCCGTCCAGTCCTTACCATCCAGGACTTGTTCTGGAGTTAGGTCATCGACGTGGGCTGGACACGTGGTGGAGAAACCCTTAGACGAGCAGCTGCAGGTCCCCTGCAACAGATGGATGGGATGACTGACAAGATGCACATCCCTTCCATGACAGCCTCTCCCTGATGCCAGCTGCTGTCACCGCCCGCTTTATTTATTTCTCACTGCCAAGTGTAGTCAACACATTTTTTTCTTCACTGTTTAATCTGTTAATTCATCTGAGCATTTTGAGGGTGTAGTCGCTTGATTTTATCCTAGAGAGTGTGTGAGTCACACACAGAGAGGAGCAGAACCTCCAAGGGTCCCTTTGGCTTGTCATCAATTATGTGGCAGCTGTAGGTTCTGCCTGTGGGAGACATTCTGTGCCTCCCTCCCCGTGGATGGACATAGGAAACCCCAGCGGCAGCCAGACACTTAAACCAGAGGCATAAATAATGCTGCCATATCATAATCATGACCATTTGAATGTGAGCAATGCCTGTTCTTAAGAAGCCCAGAGCACATTTATAATACTTTATCTCACTTATCTTCACATCCCTAAGAAATAGAAGCAGAGGTCATTAGCTTCATGTTCCATGTGAAGAAGAAAAAAATACTAAAAAAAAGGAGGAATTAAATAATTTGCCTAGGATGACACAGTTTGTTCACTTCGCAGCACAGACATAAAACTGGGTCTCCTGATGTGCTGAAGTGGTCTCTGCTGGTTGGTACTTTTTGCCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCAGCCCCGTGCTGTGTGCTCCTTCTCACCCAGGCCAGGGTCCTTCCCTGGGCAGACACCTACCTCACTGCCTTTCCTTTGGCTCTGGATGTTTTTCATCTTGCGCACCAAGGTTAAGTACAAGCCTGTGCCAAAGCAGTTCTTCAGGAAGAGTGGGGTGCCTGAGCAGTAGAGCCTTCCCTGGGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTT
TTTGTGCTAAATAGAAAAATATGCCTTTTCTTTGATAAGCAGATACTTTCCCCATTCATTAACCTGCATCAGTACGTAAGTTTAGTTTTGCTCCTGTGTGGGAATACGCTTCTCACACATTCTCTCACATAGAGAGGGGATAGCCTCTCCACTGCAGCTCCTTGGAGATGGGGGCACCCCTGAGAGCTTCAGTGCATCCTAATTAAAGGGAGAATCACTGGGAAATTGGGAAGCTGAGGGGAGAATCAGGAGTATAACAGGGGTGTATGCTATTTCCAGACTTGCCATCCACATGTGCAATCTCTGACTCCACGAATTCACTGGAAGAGCCGTGCATCACCATGCTTCCACTAGAGGGCGCCACGGCACACATGTAGAAGAAGCTCTCCCCAGACACTAAGGAATGTGGCCTGGAGCCAGGGCAGGGGGACCCCAGGAATGATGGCTTACTAAGGGTAAGAGCACAGAGTGTATTCCTCATTAAAGGGAGAGGGCCTTTAGGTGCATGACTTTTAAAATCCCTTTGGGAATGAAGGAAGAAGGAAGAGGAGAAAGAAGCTCAAAGCAAAAGAACAACTGTGTGACCTGCAGAAGTACCCAGTGTTCTCTTTGCTCCCATTAAAATGCATCACAACAGGACACACCCAGCAATACTGGGAGATGGCTGCCAGACGGAACCCAAGTATGGCCCGTCCAGTCCTTACCATCCAGGACTTGTTCTGGAGTTAGGTCATCGACGTGGGCTGGACACGTGGTGGAGAAACCCTTAGACGAGCAGCTGCAGGTCCCCTGCAACAGATGGATGGGATGACTGACAAGATGCACATCCCTTCCATGACAGCCTCTCCCTGATGCCAGCTGCTGTCACCGCCCGCTTTATTTATTTCTCACTGCCAAGTGTAGTCAACACATTTTTTTCTTCACTGTTTAATCTGTTAATTCATCTGAGCATTTTGAGGGTGTAGTCGCTTGATTTTATCCTAGAGAGTGTGTGAGTCACACACAGAGAGGAGCAGAACCTCCAAGGGTCCCTTTGGCTTGTCATCAATTATGTGGCAGCTGTAGGTTCTGCCTGTGGGAGACATTCTGTGCCTCCCTCCCCGTGGATGGACATAGGAAACCCCAGCGGCAGCCAGACACTTAAACCAGAGGCATAAATAATGCTGCCATATCATAATCATGACCATTTGAATGTGAGCAATGCCTGTTCTTAAGAAGCCCAGAGCACATTTATAATACTTTATCTCACTTATCTTCACATCCCTAAGAAATAGAAGCAGAGGTCATTAGCTTCATGTTCCATGTGAAGAAGAAAAAAATACTAAAAAAAAGGAGGAATTAAATAATTTGCCTAGGATGACACAGTTTGTTCACTTCGCAGCACAGACATAAAACTGGGTCTCCTGATGTGCTGAAGTGGTCTCTGCTGGTTGGTACTTTTTGCCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCAGCCCCGTGCTGTGTGCTCCTTCTCACCCAGGCCAGGGTCCTTCCCTGGGCAGACACCTACCTCACTGCCTTTCCTTTGGCTCTGGATGTTTTTCATCTTGCGCACCAAGGTTAAGTACAAGCCTGTGCCAAAGCAGTTCTTCAGGAAGAGTGGGGTGCCTGAGCAGTAGAGCCTTCCCTGGGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACGTGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTT
Task1_train_1201
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
AATAGAAAAATATGCCTTTTCTTTGATAAGCAGATACTTTCCCCATTCATTAACCTGCATCAGTACGTAAGTTTAGTTTTGCTCCTGTGTGGGAATACGCTTCTCACACATTCTCTCACATAGAGAGGGGATAGCCTCTCCACTGCAGCTCCTTGGAGATGGGGGCACCCCTGAGAGCTTCAGTGCATCCTAATTAAAGGGAGAATCACTGGGAAATTGGGAAGCTGAGGGGAGAATCAGGAGTATAACAGGGGTGTATGCTATTTCCAGACTTGCCATCCACATGTGCAATCTCTGACTCCACGAATTCACTGGAAGAGCCGTGCATCACCATGCTTCCACTAGAGGGCGCCACGGCACACATGTAGAAGAAGCTCTCCCCAGACACTAAGGAATGTGGCCTGGAGCCAGGGCAGGGGGACCCCAGGAATGATGGCTTACTAAGGGTAAGAGCACAGAGTGTATTCCTCATTAAAGGGAGAGGGCCTTTAGGTGCATGACTTTTAAAATCCCTTTGGGAATGAAGGAAGAAGGAAGAGGAGAAAGAAGCTCAAAGCAAAAGAACAACTGTGTGACCTGCAGAAGTACCCAGTGTTCTCTTTGCTCCCATTAAAATGCATCACAACAGGACACACCCAGCAATACTGGGAGATGGCTGCCAGACGGAACCCAAGTATGGCCCGTCCAGTCCTTACCATCCAGGACTTGTTCTGGAGTTAGGTCATCGACGTGGGCTGGACACGTGGTGGAGAAACCCTTAGACGAGCAGCTGCAGGTCCCCTGCAACAGATGGATGGGATGACTGACAAGATGCACATCCCTTCCATGACAGCCTCTCCCTGATGCCAGCTGCTGTCACCGCCCGCTTTATTTATTTCTCACTGCCAAGTGTAGTCAACACATTTTTTTCTTCACTGTTTAATCTGTTAATTCATCTGAGCATTTTGAGGGTGTAGTCGCTTGATTTTATCCTAGAGAGTGTGTGAGTCACACACAGAGAGGAGCAGAACCTCCAAGGGTCCCTTTGGCTTGTCATCAATTATGTGGCAGCTGTAGGTTCTGCCTGTGGGAGACATTCTGTGCCTCCCTCCCCGTGGATGGACATAGGAAACCCCAGCGGCAGCCAGACACTTAAACCAGAGGCATAAATAATGCTGCCATATCATAATCATGACCATTTGAATGTGAGCAATGCCTGTTCTTAAGAAGCCCAGAGCACATTTATAATACTTTATCTCACTTATCTTCACATCCCTAAGAAATAGAAGCAGAGGTCATTAGCTTCATGTTCCATGTGAAGAAGAAAAAAATACTAAAAAAAAGGAGGAATTAAATAATTTGCCTAGGATGACACAGTTTGTTCACTTCGCAGCACAGACATAAAACTGGGTCTCCTGATGTGCTGAAGTGGTCTCTGCTGGTTGGTACTTTTTGCCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCAGCCCCGTGCTGTGTGCTCCTTCTCACCCAGGCCAGGGTCCTTCCCTGGGCAGACACCTACCTCACTGCCTTTCCTTTGGCTCTGGATGTTTTTCATCTTGCGCACCAAGGTTAAGTACAAGCCTGTGCCAAAGCAGTTCTTCAGGAAGAGTGGGGTGCCTGAGCAGTAGAGCCTTCCCTGGGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGG
AATAGAAAAATATGCCTTTTCTTTGATAAGCAGATACTTTCCCCATTCATTAACCTGCATCAGTACGTAAGTTTAGTTTTGCTCCTGTGTGGGAATACGCTTCTCACACATTCTCTCACATAGAGAGGGGATAGCCTCTCCACTGCAGCTCCTTGGAGATGGGGGCACCCCTGAGAGCTTCAGTGCATCCTAATTAAAGGGAGAATCACTGGGAAATTGGGAAGCTGAGGGGAGAATCAGGAGTATAACAGGGGTGTATGCTATTTCCAGACTTGCCATCCACATGTGCAATCTCTGACTCCACGAATTCACTGGAAGAGCCGTGCATCACCATGCTTCCACTAGAGGGCGCCACGGCACACATGTAGAAGAAGCTCTCCCCAGACACTAAGGAATGTGGCCTGGAGCCAGGGCAGGGGGACCCCAGGAATGATGGCTTACTAAGGGTAAGAGCACAGAGTGTATTCCTCATTAAAGGGAGAGGGCCTTTAGGTGCATGACTTTTAAAATCCCTTTGGGAATGAAGGAAGAAGGAAGAGGAGAAAGAAGCTCAAAGCAAAAGAACAACTGTGTGACCTGCAGAAGTACCCAGTGTTCTCTTTGCTCCCATTAAAATGCATCACAACAGGACACACCCAGCAATACTGGGAGATGGCTGCCAGACGGAACCCAAGTATGGCCCGTCCAGTCCTTACCATCCAGGACTTGTTCTGGAGTTAGGTCATCGACGTGGGCTGGACACGTGGTGGAGAAACCCTTAGACGAGCAGCTGCAGGTCCCCTGCAACAGATGGATGGGATGACTGACAAGATGCACATCCCTTCCATGACAGCCTCTCCCTGATGCCAGCTGCTGTCACCGCCCGCTTTATTTATTTCTCACTGCCAAGTGTAGTCAACACATTTTTTTCTTCACTGTTTAATCTGTTAATTCATCTGAGCATTTTGAGGGTGTAGTCGCTTGATTTTATCCTAGAGAGTGTGTGAGTCACACACAGAGAGGAGCAGAACCTCCAAGGGTCCCTTTGGCTTGTCATCAATTATGTGGCAGCTGTAGGTTCTGCCTGTGGGAGACATTCTGTGCCTCCCTCCCCGTGGATGGACATAGGAAACCCCAGCGGCAGCCAGACACTTAAACCAGAGGCATAAATAATGCTGCCATATCATAATCATGACCATTTGAATGTGAGCAATGCCTGTTCTTAAGAAGCCCAGAGCACATTTATAATACTTTATCTCACTTATCTTCACATCCCTAAGAAATAGAAGCAGAGGTCATTAGCTTCATGTTCCATGTGAAGAAGAAAAAAATACTAAAAAAAAGGAGGAATTAAATAATTTGCCTAGGATGACACAGTTTGTTCACTTCGCAGCACAGACATAAAACTGGGTCTCCTGATGTGCTGAAGTGGTCTCTGCTGGTTGGTACTTTTTGCCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCAGCCCCGTGCTGTGTGCTCCTTCTCACCCAGGCCAGGGTCCTTCCCTGGGCAGACACCTACCTCACTGCCTTTCCTTTGGCTCTGGATGTTTTTCATCTTGCGCACCAAGGTTAAGTACAAGCCTGTGCCAAAGCAGTTCTTCAGGAAGAGTGGGGTGCCTGAGCAGTAGAGCCTTCCCTGGGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGTTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGG
Task1_train_1202
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?
Pathogenic; Severe early-childhood-onset retinal dystrophy
AGCACAGACATAAAACTGGGTCTCCTGATGTGCTGAAGTGGTCTCTGCTGGTTGGTACTTTTTGCCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCAGCCCCGTGCTGTGTGCTCCTTCTCACCCAGGCCAGGGTCCTTCCCTGGGCAGACACCTACCTCACTGCCTTTCCTTTGGCTCTGGATGTTTTTCATCTTGCGCACCAAGGTTAAGTACAAGCCTGTGCCAAAGCAGTTCTTCAGGAAGAGTGGGGTGCCTGAGCAGTAGAGCCTTCCCTGGGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCA
AGCACAGACATAAAACTGGGTCTCCTGATGTGCTGAAGTGGTCTCTGCTGGTTGGTACTTTTTGCCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCAGCCCCGTGCTGTGTGCTCCTTCTCACCCAGGCCAGGGTCCTTCCCTGGGCAGACACCTACCTCACTGCCTTTCCTTTGGCTCTGGATGTTTTTCATCTTGCGCACCAAGGTTAAGTACAAGCCTGTGCCAAAGCAGTTCTTCAGGAAGAGTGGGGTGCCTGAGCAGTAGAGCCTTCCCTGGGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGTGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCA
Task1_train_1203
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.
Pathogenic; Retinal dystrophy
AGCACAGACATAAAACTGGGTCTCCTGATGTGCTGAAGTGGTCTCTGCTGGTTGGTACTTTTTGCCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCAGCCCCGTGCTGTGTGCTCCTTCTCACCCAGGCCAGGGTCCTTCCCTGGGCAGACACCTACCTCACTGCCTTTCCTTTGGCTCTGGATGTTTTTCATCTTGCGCACCAAGGTTAAGTACAAGCCTGTGCCAAAGCAGTTCTTCAGGAAGAGTGGGGTGCCTGAGCAGTAGAGCCTTCCCTGGGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCA
AGCACAGACATAAAACTGGGTCTCCTGATGTGCTGAAGTGGTCTCTGCTGGTTGGTACTTTTTGCCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCAGCCCCGTGCTGTGTGCTCCTTCTCACCCAGGCCAGGGTCCTTCCCTGGGCAGACACCTACCTCACTGCCTTTCCTTTGGCTCTGGATGTTTTTCATCTTGCGCACCAAGGTTAAGTACAAGCCTGTGCCAAAGCAGTTCTTCAGGAAGAGTGGGGTGCCTGAGCAGTAGAGCCTTCCCTGGGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGTGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCA
Task1_train_1204
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.
Pathogenic; Stargardt disease
AGCACAGACATAAAACTGGGTCTCCTGATGTGCTGAAGTGGTCTCTGCTGGTTGGTACTTTTTGCCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCAGCCCCGTGCTGTGTGCTCCTTCTCACCCAGGCCAGGGTCCTTCCCTGGGCAGACACCTACCTCACTGCCTTTCCTTTGGCTCTGGATGTTTTTCATCTTGCGCACCAAGGTTAAGTACAAGCCTGTGCCAAAGCAGTTCTTCAGGAAGAGTGGGGTGCCTGAGCAGTAGAGCCTTCCCTGGGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCA
AGCACAGACATAAAACTGGGTCTCCTGATGTGCTGAAGTGGTCTCTGCTGGTTGGTACTTTTTGCCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCAGCCCCGTGCTGTGTGCTCCTTCTCACCCAGGCCAGGGTCCTTCCCTGGGCAGACACCTACCTCACTGCCTTTCCTTTGGCTCTGGATGTTTTTCATCTTGCGCACCAAGGTTAAGTACAAGCCTGTGCCAAAGCAGTTCTTCAGGAAGAGTGGGGTGCCTGAGCAGTAGAGCCTTCCCTGGGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGTGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCA
Task1_train_1205
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?
Pathogenic; not provided
CTGGGTCTCCTGATGTGCTGAAGTGGTCTCTGCTGGTTGGTACTTTTTGCCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCAGCCCCGTGCTGTGTGCTCCTTCTCACCCAGGCCAGGGTCCTTCCCTGGGCAGACACCTACCTCACTGCCTTTCCTTTGGCTCTGGATGTTTTTCATCTTGCGCACCAAGGTTAAGTACAAGCCTGTGCCAAAGCAGTTCTTCAGGAAGAGTGGGGTGCCTGAGCAGTAGAGCCTTCCCTGGGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGA
CTGGGTCTCCTGATGTGCTGAAGTGGTCTCTGCTGGTTGGTACTTTTTGCCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCAGCCCCGTGCTGTGTGCTCCTTCTCACCCAGGCCAGGGTCCTTCCCTGGGCAGACACCTACCTCACTGCCTTTCCTTTGGCTCTGGATGTTTTTCATCTTGCGCACCAAGGTTAAGTACAAGCCTGTGCCAAAGCAGTTCTTCAGGAAGAGTGGGGTGCCTGAGCAGTAGAGCCTTCCCTGGGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCCGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGA
Task1_train_1206
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.
Pathogenic; not provided
CCTGATGTGCTGAAGTGGTCTCTGCTGGTTGGTACTTTTTGCCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCAGCCCCGTGCTGTGTGCTCCTTCTCACCCAGGCCAGGGTCCTTCCCTGGGCAGACACCTACCTCACTGCCTTTCCTTTGGCTCTGGATGTTTTTCATCTTGCGCACCAAGGTTAAGTACAAGCCTGTGCCAAAGCAGTTCTTCAGGAAGAGTGGGGTGCCTGAGCAGTAGAGCCTTCCCTGGGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTC
CCTGATGTGCTGAAGTGGTCTCTGCTGGTTGGTACTTTTTGCCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCAGCCCCGTGCTGTGTGCTCCTTCTCACCCAGGCCAGGGTCCTTCCCTGGGCAGACACCTACCTCACTGCCTTTCCTTTGGCTCTGGATGTTTTTCATCTTGCGCACCAAGGTTAAGTACAAGCCTGTGCCAAAGCAGTTCTTCAGGAAGAGTGGGGTGCCTGAGCAGTAGAGCCTTCCCTGGGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCACATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTC
Task1_train_1207
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?
Pathogenic; not provided
CTGATGTGCTGAAGTGGTCTCTGCTGGTTGGTACTTTTTGCCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCAGCCCCGTGCTGTGTGCTCCTTCTCACCCAGGCCAGGGTCCTTCCCTGGGCAGACACCTACCTCACTGCCTTTCCTTTGGCTCTGGATGTTTTTCATCTTGCGCACCAAGGTTAAGTACAAGCCTGTGCCAAAGCAGTTCTTCAGGAAGAGTGGGGTGCCTGAGCAGTAGAGCCTTCCCTGGGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCA
CTGATGTGCTGAAGTGGTCTCTGCTGGTTGGTACTTTTTGCCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCAGCCCCGTGCTGTGTGCTCCTTCTCACCCAGGCCAGGGTCCTTCCCTGGGCAGACACCTACCTCACTGCCTTTCCTTTGGCTCTGGATGTTTTTCATCTTGCGCACCAAGGTTAAGTACAAGCCTGTGCCAAAGCAGTTCTTCAGGAAGAGTGGGGTGCCTGAGCAGTAGAGCCTTCCCTGGGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGGTTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCA
Task1_train_1208
A variant on Chromosome 1 in gene ABCA4 (ATP binding cassette subfamily A member 4) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; not provided
CTGATGTGCTGAAGTGGTCTCTGCTGGTTGGTACTTTTTGCCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCAGCCCCGTGCTGTGTGCTCCTTCTCACCCAGGCCAGGGTCCTTCCCTGGGCAGACACCTACCTCACTGCCTTTCCTTTGGCTCTGGATGTTTTTCATCTTGCGCACCAAGGTTAAGTACAAGCCTGTGCCAAAGCAGTTCTTCAGGAAGAGTGGGGTGCCTGAGCAGTAGAGCCTTCCCTGGGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCA
CTGATGTGCTGAAGTGGTCTCTGCTGGTTGGTACTTTTTGCCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCAGCCCCGTGCTGTGTGCTCCTTCTCACCCAGGCCAGGGTCCTTCCCTGGGCAGACACCTACCTCACTGCCTTTCCTTTGGCTCTGGATGTTTTTCATCTTGCGCACCAAGGTTAAGTACAAGCCTGTGCCAAAGCAGTTCTTCAGGAAGAGTGGGGTGCCTGAGCAGTAGAGCCTTCCCTGGGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGTTTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCA
Task1_train_1209
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
TGTGCTGAAGTGGTCTCTGCTGGTTGGTACTTTTTGCCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCAGCCCCGTGCTGTGTGCTCCTTCTCACCCAGGCCAGGGTCCTTCCCTGGGCAGACACCTACCTCACTGCCTTTCCTTTGGCTCTGGATGTTTTTCATCTTGCGCACCAAGGTTAAGTACAAGCCTGTGCCAAAGCAGTTCTTCAGGAAGAGTGGGGTGCCTGAGCAGTAGAGCCTTCCCTGGGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGA
TGTGCTGAAGTGGTCTCTGCTGGTTGGTACTTTTTGCCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCAGCCCCGTGCTGTGTGCTCCTTCTCACCCAGGCCAGGGTCCTTCCCTGGGCAGACACCTACCTCACTGCCTTTCCTTTGGCTCTGGATGTTTTTCATCTTGCGCACCAAGGTTAAGTACAAGCCTGTGCCAAAGCAGTTCTTCAGGAAGAGTGGGGTGCCTGAGCAGTAGAGCCTTCCCTGGGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGGGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGA
Task1_train_1210
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?
Pathogenic; not provided
TCTGCTGGTTGGTACTTTTTGCCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCAGCCCCGTGCTGTGTGCTCCTTCTCACCCAGGCCAGGGTCCTTCCCTGGGCAGACACCTACCTCACTGCCTTTCCTTTGGCTCTGGATGTTTTTCATCTTGCGCACCAAGGTTAAGTACAAGCCTGTGCCAAAGCAGTTCTTCAGGAAGAGTGGGGTGCCTGAGCAGTAGAGCCTTCCCTGGGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCT
TCTGCTGGTTGGTACTTTTTGCCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCAGCCCCGTGCTGTGTGCTCCTTCTCACCCAGGCCAGGGTCCTTCCCTGGGCAGACACCTACCTCACTGCCTTTCCTTTGGCTCTGGATGTTTTTCATCTTGCGCACCAAGGTTAAGTACAAGCCTGTGCCAAAGCAGTTCTTCAGGAAGAGTGGGGTGCCTGAGCAGTAGAGCCTTCCCTGGGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGTGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCT
Task1_train_1211
An alteration has been detected in ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Is it pathogenic, and if so, what disease is involved?
Pathogenic; Retinal dystrophy
CTTTTTGCCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCAGCCCCGTGCTGTGTGCTCCTTCTCACCCAGGCCAGGGTCCTTCCCTGGGCAGACACCTACCTCACTGCCTTTCCTTTGGCTCTGGATGTTTTTCATCTTGCGCACCAAGGTTAAGTACAAGCCTGTGCCAAAGCAGTTCTTCAGGAAGAGTGGGGTGCCTGAGCAGTAGAGCCTTCCCTGGGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCA
CTTTTTGCCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCAGCCCCGTGCTGTGTGCTCCTTCTCACCCAGGCCAGGGTCCTTCCCTGGGCAGACACCTACCTCACTGCCTTTCCTTTGGCTCTGGATGTTTTTCATCTTGCGCACCAAGGTTAAGTACAAGCCTGTGCCAAAGCAGTTCTTCAGGAAGAGTGGGGTGCCTGAGCAGTAGAGCCTTCCCTGGGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGATGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCA
Task1_train_1212
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?
Pathogenic; not provided
GCCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCAGCCCCGTGCTGTGTGCTCCTTCTCACCCAGGCCAGGGTCCTTCCCTGGGCAGACACCTACCTCACTGCCTTTCCTTTGGCTCTGGATGTTTTTCATCTTGCGCACCAAGGTTAAGTACAAGCCTGTGCCAAAGCAGTTCTTCAGGAAGAGTGGGGTGCCTGAGCAGTAGAGCCTTCCCTGGGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCC
GCCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCAGCCCCGTGCTGTGTGCTCCTTCTCACCCAGGCCAGGGTCCTTCCCTGGGCAGACACCTACCTCACTGCCTTTCCTTTGGCTCTGGATGTTTTTCATCTTGCGCACCAAGGTTAAGTACAAGCCTGTGCCAAAGCAGTTCTTCAGGAAGAGTGGGGTGCCTGAGCAGTAGAGCCTTCCCTGGGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTCCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCC
Task1_train_1213
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
CCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCAGCCCCGTGCTGTGTGCTCCTTCTCACCCAGGCCAGGGTCCTTCCCTGGGCAGACACCTACCTCACTGCCTTTCCTTTGGCTCTGGATGTTTTTCATCTTGCGCACCAAGGTTAAGTACAAGCCTGTGCCAAAGCAGTTCTTCAGGAAGAGTGGGGTGCCTGAGCAGTAGAGCCTTCCCTGGGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCT
CCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCAGCCCCGTGCTGTGTGCTCCTTCTCACCCAGGCCAGGGTCCTTCCCTGGGCAGACACCTACCTCACTGCCTTTCCTTTGGCTCTGGATGTTTTTCATCTTGCGCACCAAGGTTAAGTACAAGCCTGTGCCAAAGCAGTTCTTCAGGAAGAGTGGGGTGCCTGAGCAGTAGAGCCTTCCCTGGGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTTGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCT
Task1_train_1214
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?
Pathogenic; Cone-rod dystrophy 3
CCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCAGCCCCGTGCTGTGTGCTCCTTCTCACCCAGGCCAGGGTCCTTCCCTGGGCAGACACCTACCTCACTGCCTTTCCTTTGGCTCTGGATGTTTTTCATCTTGCGCACCAAGGTTAAGTACAAGCCTGTGCCAAAGCAGTTCTTCAGGAAGAGTGGGGTGCCTGAGCAGTAGAGCCTTCCCTGGGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCT
CCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCAGCCCCGTGCTGTGTGCTCCTTCTCACCCAGGCCAGGGTCCTTCCCTGGGCAGACACCTACCTCACTGCCTTTCCTTTGGCTCTGGATGTTTTTCATCTTGCGCACCAAGGTTAAGTACAAGCCTGTGCCAAAGCAGTTCTTCAGGAAGAGTGGGGTGCCTGAGCAGTAGAGCCTTCCCTGGGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTTGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCT
Task1_train_1215
The gene ABCA4 (ATP binding cassette subfamily A member 4), on Chromosome 1, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Age related macular degeneration 2
CCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCAGCCCCGTGCTGTGTGCTCCTTCTCACCCAGGCCAGGGTCCTTCCCTGGGCAGACACCTACCTCACTGCCTTTCCTTTGGCTCTGGATGTTTTTCATCTTGCGCACCAAGGTTAAGTACAAGCCTGTGCCAAAGCAGTTCTTCAGGAAGAGTGGGGTGCCTGAGCAGTAGAGCCTTCCCTGGGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCT
CCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCAGCCCCGTGCTGTGTGCTCCTTCTCACCCAGGCCAGGGTCCTTCCCTGGGCAGACACCTACCTCACTGCCTTTCCTTTGGCTCTGGATGTTTTTCATCTTGCGCACCAAGGTTAAGTACAAGCCTGTGCCAAAGCAGTTCTTCAGGAAGAGTGGGGTGCCTGAGCAGTAGAGCCTTCCCTGGGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTTGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCT
Task1_train_1216
Consider a variant on Chromosome 1 in gene ABCA4 (ATP binding cassette subfamily A member 4). Determine its clinical classification and disease relevance.
Pathogenic; Cone-rod dystrophy 3
CCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCAGCCCCGTGCTGTGTGCTCCTTCTCACCCAGGCCAGGGTCCTTCCCTGGGCAGACACCTACCTCACTGCCTTTCCTTTGGCTCTGGATGTTTTTCATCTTGCGCACCAAGGTTAAGTACAAGCCTGTGCCAAAGCAGTTCTTCAGGAAGAGTGGGGTGCCTGAGCAGTAGAGCCTTCCCTGGGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCT
CCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCAGCCCCGTGCTGTGTGCTCCTTCTCACCCAGGCCAGGGTCCTTCCCTGGGCAGACACCTACCTCACTGCCTTTCCTTTGGCTCTGGATGTTTTTCATCTTGCGCACCAAGGTTAAGTACAAGCCTGTGCCAAAGCAGTTCTTCAGGAAGAGTGGGGTGCCTGAGCAGTAGAGCCTTCCCTGGGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTTGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCT
Task1_train_1217
The variant affects gene ABCA4 (ATP binding cassette subfamily A member 4), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Severe early-childhood-onset retinal dystrophy
CCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCAGCCCCGTGCTGTGTGCTCCTTCTCACCCAGGCCAGGGTCCTTCCCTGGGCAGACACCTACCTCACTGCCTTTCCTTTGGCTCTGGATGTTTTTCATCTTGCGCACCAAGGTTAAGTACAAGCCTGTGCCAAAGCAGTTCTTCAGGAAGAGTGGGGTGCCTGAGCAGTAGAGCCTTCCCTGGGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCT
CCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCAGCCCCGTGCTGTGTGCTCCTTCTCACCCAGGCCAGGGTCCTTCCCTGGGCAGACACCTACCTCACTGCCTTTCCTTTGGCTCTGGATGTTTTTCATCTTGCGCACCAAGGTTAAGTACAAGCCTGTGCCAAAGCAGTTCTTCAGGAAGAGTGGGGTGCCTGAGCAGTAGAGCCTTCCCTGGGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTTGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCT
Task1_train_1218
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?
Pathogenic; Retinitis pigmentosa 19
CCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCAGCCCCGTGCTGTGTGCTCCTTCTCACCCAGGCCAGGGTCCTTCCCTGGGCAGACACCTACCTCACTGCCTTTCCTTTGGCTCTGGATGTTTTTCATCTTGCGCACCAAGGTTAAGTACAAGCCTGTGCCAAAGCAGTTCTTCAGGAAGAGTGGGGTGCCTGAGCAGTAGAGCCTTCCCTGGGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCT
CCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCAGCCCCGTGCTGTGTGCTCCTTCTCACCCAGGCCAGGGTCCTTCCCTGGGCAGACACCTACCTCACTGCCTTTCCTTTGGCTCTGGATGTTTTTCATCTTGCGCACCAAGGTTAAGTACAAGCCTGTGCCAAAGCAGTTCTTCAGGAAGAGTGGGGTGCCTGAGCAGTAGAGCCTTCCCTGGGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTTGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCT
Task1_train_1219
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; Age related macular degeneration 2
CCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCAGCCCCGTGCTGTGTGCTCCTTCTCACCCAGGCCAGGGTCCTTCCCTGGGCAGACACCTACCTCACTGCCTTTCCTTTGGCTCTGGATGTTTTTCATCTTGCGCACCAAGGTTAAGTACAAGCCTGTGCCAAAGCAGTTCTTCAGGAAGAGTGGGGTGCCTGAGCAGTAGAGCCTTCCCTGGGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCT
CCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCAGCCCCGTGCTGTGTGCTCCTTCTCACCCAGGCCAGGGTCCTTCCCTGGGCAGACACCTACCTCACTGCCTTTCCTTTGGCTCTGGATGTTTTTCATCTTGCGCACCAAGGTTAAGTACAAGCCTGTGCCAAAGCAGTTCTTCAGGAAGAGTGGGGTGCCTGAGCAGTAGAGCCTTCCCTGGGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTTGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCT
Task1_train_1220
Gene ABCA4 (ATP binding cassette subfamily A member 4), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; Retinitis pigmentosa 19
CCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCAGCCCCGTGCTGTGTGCTCCTTCTCACCCAGGCCAGGGTCCTTCCCTGGGCAGACACCTACCTCACTGCCTTTCCTTTGGCTCTGGATGTTTTTCATCTTGCGCACCAAGGTTAAGTACAAGCCTGTGCCAAAGCAGTTCTTCAGGAAGAGTGGGGTGCCTGAGCAGTAGAGCCTTCCCTGGGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCT
CCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCAGCCCCGTGCTGTGTGCTCCTTCTCACCCAGGCCAGGGTCCTTCCCTGGGCAGACACCTACCTCACTGCCTTTCCTTTGGCTCTGGATGTTTTTCATCTTGCGCACCAAGGTTAAGTACAAGCCTGTGCCAAAGCAGTTCTTCAGGAAGAGTGGGGTGCCTGAGCAGTAGAGCCTTCCCTGGGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTTGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCT
Task1_train_1221
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.
Pathogenic; Abnormality of the eye
CCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCAGCCCCGTGCTGTGTGCTCCTTCTCACCCAGGCCAGGGTCCTTCCCTGGGCAGACACCTACCTCACTGCCTTTCCTTTGGCTCTGGATGTTTTTCATCTTGCGCACCAAGGTTAAGTACAAGCCTGTGCCAAAGCAGTTCTTCAGGAAGAGTGGGGTGCCTGAGCAGTAGAGCCTTCCCTGGGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCT
CCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCAGCCCCGTGCTGTGTGCTCCTTCTCACCCAGGCCAGGGTCCTTCCCTGGGCAGACACCTACCTCACTGCCTTTCCTTTGGCTCTGGATGTTTTTCATCTTGCGCACCAAGGTTAAGTACAAGCCTGTGCCAAAGCAGTTCTTCAGGAAGAGTGGGGTGCCTGAGCAGTAGAGCCTTCCCTGGGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTTGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCT
Task1_train_1222
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?
Pathogenic; ABCA4-related disorder
TTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCAGCCCCGTGCTGTGTGCTCCTTCTCACCCAGGCCAGGGTCCTTCCCTGGGCAGACACCTACCTCACTGCCTTTCCTTTGGCTCTGGATGTTTTTCATCTTGCGCACCAAGGTTAAGTACAAGCCTGTGCCAAAGCAGTTCTTCAGGAAGAGTGGGGTGCCTGAGCAGTAGAGCCTTCCCTGGGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCTATTAGCTGTGGGGCCCCCTTAGCACCAGTGTATACATCCAGGCCCTA
TTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCAGCCCCGTGCTGTGTGCTCCTTCTCACCCAGGCCAGGGTCCTTCCCTGGGCAGACACCTACCTCACTGCCTTTCCTTTGGCTCTGGATGTTTTTCATCTTGCGCACCAAGGTTAAGTACAAGCCTGTGCCAAAGCAGTTCTTCAGGAAGAGTGGGGTGCCTGAGCAGTAGAGCCTTCCCTGGGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCAACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCTATTAGCTGTGGGGCCCCCTTAGCACCAGTGTATACATCCAGGCCCTA
Task1_train_1223
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?
Pathogenic; Cone-rod dystrophy
TTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCAGCCCCGTGCTGTGTGCTCCTTCTCACCCAGGCCAGGGTCCTTCCCTGGGCAGACACCTACCTCACTGCCTTTCCTTTGGCTCTGGATGTTTTTCATCTTGCGCACCAAGGTTAAGTACAAGCCTGTGCCAAAGCAGTTCTTCAGGAAGAGTGGGGTGCCTGAGCAGTAGAGCCTTCCCTGGGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCTATTAGCTGTGGGGCCCCCTTAGCACCAGTGTATACATCCAGGCCCTA
TTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCAGCCCCGTGCTGTGTGCTCCTTCTCACCCAGGCCAGGGTCCTTCCCTGGGCAGACACCTACCTCACTGCCTTTCCTTTGGCTCTGGATGTTTTTCATCTTGCGCACCAAGGTTAAGTACAAGCCTGTGCCAAAGCAGTTCTTCAGGAAGAGTGGGGTGCCTGAGCAGTAGAGCCTTCCCTGGGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCAACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCTATTAGCTGTGGGGCCCCCTTAGCACCAGTGTATACATCCAGGCCCTA
Task1_train_1224
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?
Pathogenic; Retinitis pigmentosa
TTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCAGCCCCGTGCTGTGTGCTCCTTCTCACCCAGGCCAGGGTCCTTCCCTGGGCAGACACCTACCTCACTGCCTTTCCTTTGGCTCTGGATGTTTTTCATCTTGCGCACCAAGGTTAAGTACAAGCCTGTGCCAAAGCAGTTCTTCAGGAAGAGTGGGGTGCCTGAGCAGTAGAGCCTTCCCTGGGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCTATTAGCTGTGGGGCCCCCTTAGCACCAGTGTATACATCCAGGCCCTA
TTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCAGCCCCGTGCTGTGTGCTCCTTCTCACCCAGGCCAGGGTCCTTCCCTGGGCAGACACCTACCTCACTGCCTTTCCTTTGGCTCTGGATGTTTTTCATCTTGCGCACCAAGGTTAAGTACAAGCCTGTGCCAAAGCAGTTCTTCAGGAAGAGTGGGGTGCCTGAGCAGTAGAGCCTTCCCTGGGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCAACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCTATTAGCTGTGGGGCCCCCTTAGCACCAGTGTATACATCCAGGCCCTA
Task1_train_1225
The variant affects gene ABCA4 (ATP binding cassette subfamily A member 4), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Age related macular degeneration 2
TTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCAGCCCCGTGCTGTGTGCTCCTTCTCACCCAGGCCAGGGTCCTTCCCTGGGCAGACACCTACCTCACTGCCTTTCCTTTGGCTCTGGATGTTTTTCATCTTGCGCACCAAGGTTAAGTACAAGCCTGTGCCAAAGCAGTTCTTCAGGAAGAGTGGGGTGCCTGAGCAGTAGAGCCTTCCCTGGGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCTATTAGCTGTGGGGCCCCCTTAGCACCAGTGTATACATCCAGGCCCTA
TTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCAGCCCCGTGCTGTGTGCTCCTTCTCACCCAGGCCAGGGTCCTTCCCTGGGCAGACACCTACCTCACTGCCTTTCCTTTGGCTCTGGATGTTTTTCATCTTGCGCACCAAGGTTAAGTACAAGCCTGTGCCAAAGCAGTTCTTCAGGAAGAGTGGGGTGCCTGAGCAGTAGAGCCTTCCCTGGGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCAACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCTATTAGCTGTGGGGCCCCCTTAGCACCAGTGTATACATCCAGGCCCTA
Task1_train_1226
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; Cone-rod dystrophy 3
TTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCAGCCCCGTGCTGTGTGCTCCTTCTCACCCAGGCCAGGGTCCTTCCCTGGGCAGACACCTACCTCACTGCCTTTCCTTTGGCTCTGGATGTTTTTCATCTTGCGCACCAAGGTTAAGTACAAGCCTGTGCCAAAGCAGTTCTTCAGGAAGAGTGGGGTGCCTGAGCAGTAGAGCCTTCCCTGGGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCTATTAGCTGTGGGGCCCCCTTAGCACCAGTGTATACATCCAGGCCCTA
TTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCAGCCCCGTGCTGTGTGCTCCTTCTCACCCAGGCCAGGGTCCTTCCCTGGGCAGACACCTACCTCACTGCCTTTCCTTTGGCTCTGGATGTTTTTCATCTTGCGCACCAAGGTTAAGTACAAGCCTGTGCCAAAGCAGTTCTTCAGGAAGAGTGGGGTGCCTGAGCAGTAGAGCCTTCCCTGGGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCAACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCTATTAGCTGTGGGGCCCCCTTAGCACCAGTGTATACATCCAGGCCCTA
Task1_train_1227
A variant on Chromosome 1 in gene ABCA4 (ATP binding cassette subfamily A member 4) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; Severe early-childhood-onset retinal dystrophy
TTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCAGCCCCGTGCTGTGTGCTCCTTCTCACCCAGGCCAGGGTCCTTCCCTGGGCAGACACCTACCTCACTGCCTTTCCTTTGGCTCTGGATGTTTTTCATCTTGCGCACCAAGGTTAAGTACAAGCCTGTGCCAAAGCAGTTCTTCAGGAAGAGTGGGGTGCCTGAGCAGTAGAGCCTTCCCTGGGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCTATTAGCTGTGGGGCCCCCTTAGCACCAGTGTATACATCCAGGCCCTA
TTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCAGCCCCGTGCTGTGTGCTCCTTCTCACCCAGGCCAGGGTCCTTCCCTGGGCAGACACCTACCTCACTGCCTTTCCTTTGGCTCTGGATGTTTTTCATCTTGCGCACCAAGGTTAAGTACAAGCCTGTGCCAAAGCAGTTCTTCAGGAAGAGTGGGGTGCCTGAGCAGTAGAGCCTTCCCTGGGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCAACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCTATTAGCTGTGGGGCCCCCTTAGCACCAGTGTATACATCCAGGCCCTA
Task1_train_1228
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?
Pathogenic; Retinitis pigmentosa 19
TTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCAGCCCCGTGCTGTGTGCTCCTTCTCACCCAGGCCAGGGTCCTTCCCTGGGCAGACACCTACCTCACTGCCTTTCCTTTGGCTCTGGATGTTTTTCATCTTGCGCACCAAGGTTAAGTACAAGCCTGTGCCAAAGCAGTTCTTCAGGAAGAGTGGGGTGCCTGAGCAGTAGAGCCTTCCCTGGGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCTATTAGCTGTGGGGCCCCCTTAGCACCAGTGTATACATCCAGGCCCTA
TTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCAGCCCCGTGCTGTGTGCTCCTTCTCACCCAGGCCAGGGTCCTTCCCTGGGCAGACACCTACCTCACTGCCTTTCCTTTGGCTCTGGATGTTTTTCATCTTGCGCACCAAGGTTAAGTACAAGCCTGTGCCAAAGCAGTTCTTCAGGAAGAGTGGGGTGCCTGAGCAGTAGAGCCTTCCCTGGGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCAACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCTATTAGCTGTGGGGCCCCCTTAGCACCAGTGTATACATCCAGGCCCTA
Task1_train_1229
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?
Pathogenic; not provided
TTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCAGCCCCGTGCTGTGTGCTCCTTCTCACCCAGGCCAGGGTCCTTCCCTGGGCAGACACCTACCTCACTGCCTTTCCTTTGGCTCTGGATGTTTTTCATCTTGCGCACCAAGGTTAAGTACAAGCCTGTGCCAAAGCAGTTCTTCAGGAAGAGTGGGGTGCCTGAGCAGTAGAGCCTTCCCTGGGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCTATTAGCTGTGGGGCCCCCTTAGCACCAGTGTATACATCCAGGCCCTAA
TTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCAGCCCCGTGCTGTGTGCTCCTTCTCACCCAGGCCAGGGTCCTTCCCTGGGCAGACACCTACCTCACTGCCTTTCCTTTGGCTCTGGATGTTTTTCATCTTGCGCACCAAGGTTAAGTACAAGCCTGTGCCAAAGCAGTTCTTCAGGAAGAGTGGGGTGCCTGAGCAGTAGAGCCTTCCCTGGGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGGCAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCTATTAGCTGTGGGGCCCCCTTAGCACCAGTGTATACATCCAGGCCCTAA
Task1_train_1230
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; Retinal dystrophy
GGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCTATTAGCTGTGGGGCCCCCTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGATCGAAGCCAGGCATGGGAATTACCACCACCAATATTAGCTTTGGATCCAAAACATAAAAAGCCTCAGAGCAATGGTGGGCTTTTTTTTTTTTTTTTTTTAAATGGGAACTATGACTCCCATGTCCTTAGGTTGTTGTAAGGCTTAAATGAGTTAATACACTTACAACATTAGAACAGCGCCAGCAT
GGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGTCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCTATTAGCTGTGGGGCCCCCTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGATCGAAGCCAGGCATGGGAATTACCACCACCAATATTAGCTTTGGATCCAAAACATAAAAAGCCTCAGAGCAATGGTGGGCTTTTTTTTTTTTTTTTTTTAAATGGGAACTATGACTCCCATGTCCTTAGGTTGTTGTAAGGCTTAAATGAGTTAATACACTTACAACATTAGAACAGCGCCAGCAT
Task1_train_1231
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?
Pathogenic; Age related macular degeneration 2
GGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCTATTAGCTGTGGGGCCCCCTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGATCGAAGCCAGGCATGGGAATTACCACCACCAATATTAGCTTTGGATCCAAAACATAAAAAGCCTCAGAGCAATGGTGGGCTTTTTTTTTTTTTTTTTTTAAATGGGAACTATGACTCCCATGTCCTTAGGTTGTTGTAAGGCTTAAATGAGTTAATACACTTACAACATTAGAACAGCGCCAGCAT
GGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGTCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCTATTAGCTGTGGGGCCCCCTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGATCGAAGCCAGGCATGGGAATTACCACCACCAATATTAGCTTTGGATCCAAAACATAAAAAGCCTCAGAGCAATGGTGGGCTTTTTTTTTTTTTTTTTTTAAATGGGAACTATGACTCCCATGTCCTTAGGTTGTTGTAAGGCTTAAATGAGTTAATACACTTACAACATTAGAACAGCGCCAGCAT
Task1_train_1232
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?
Pathogenic; Cone-rod dystrophy 3
GGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCTATTAGCTGTGGGGCCCCCTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGATCGAAGCCAGGCATGGGAATTACCACCACCAATATTAGCTTTGGATCCAAAACATAAAAAGCCTCAGAGCAATGGTGGGCTTTTTTTTTTTTTTTTTTTAAATGGGAACTATGACTCCCATGTCCTTAGGTTGTTGTAAGGCTTAAATGAGTTAATACACTTACAACATTAGAACAGCGCCAGCAT
GGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGTCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCTATTAGCTGTGGGGCCCCCTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGATCGAAGCCAGGCATGGGAATTACCACCACCAATATTAGCTTTGGATCCAAAACATAAAAAGCCTCAGAGCAATGGTGGGCTTTTTTTTTTTTTTTTTTTAAATGGGAACTATGACTCCCATGTCCTTAGGTTGTTGTAAGGCTTAAATGAGTTAATACACTTACAACATTAGAACAGCGCCAGCAT
Task1_train_1233
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
GGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCTATTAGCTGTGGGGCCCCCTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGATCGAAGCCAGGCATGGGAATTACCACCACCAATATTAGCTTTGGATCCAAAACATAAAAAGCCTCAGAGCAATGGTGGGCTTTTTTTTTTTTTTTTTTTAAATGGGAACTATGACTCCCATGTCCTTAGGTTGTTGTAAGGCTTAAATGAGTTAATACACTTACAACATTAGAACAGCGCCAGCAT
GGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGTCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCTATTAGCTGTGGGGCCCCCTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGATCGAAGCCAGGCATGGGAATTACCACCACCAATATTAGCTTTGGATCCAAAACATAAAAAGCCTCAGAGCAATGGTGGGCTTTTTTTTTTTTTTTTTTTAAATGGGAACTATGACTCCCATGTCCTTAGGTTGTTGTAAGGCTTAAATGAGTTAATACACTTACAACATTAGAACAGCGCCAGCAT
Task1_train_1234
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?
Pathogenic; Retinitis pigmentosa 19
GGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCTATTAGCTGTGGGGCCCCCTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGATCGAAGCCAGGCATGGGAATTACCACCACCAATATTAGCTTTGGATCCAAAACATAAAAAGCCTCAGAGCAATGGTGGGCTTTTTTTTTTTTTTTTTTTAAATGGGAACTATGACTCCCATGTCCTTAGGTTGTTGTAAGGCTTAAATGAGTTAATACACTTACAACATTAGAACAGCGCCAGCAT
GGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGTCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCTATTAGCTGTGGGGCCCCCTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGATCGAAGCCAGGCATGGGAATTACCACCACCAATATTAGCTTTGGATCCAAAACATAAAAAGCCTCAGAGCAATGGTGGGCTTTTTTTTTTTTTTTTTTTAAATGGGAACTATGACTCCCATGTCCTTAGGTTGTTGTAAGGCTTAAATGAGTTAATACACTTACAACATTAGAACAGCGCCAGCAT
Task1_train_1235
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?
Pathogenic; Retinitis pigmentosa 19
GCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCTATTAGCTGTGGGGCCCCCTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGATCGAAGCCAGGCATGGGAATTACCACCACCAATATTAGCTTTGGATCCAAAACATAAAAAGCCTCAGAGCAATGGTGGGCTTTTTTTTTTTTTTTTTTTAAATGGGAACTATGACTCCCATGTCCTTAGGTTGTTGTAAGGCTTAAATGAGTTAATACACTTACAACATTAGAACAGCGCCAGCATAAAGTAAAACTCAAAAATATTATTACTGTTAGTATTAAACATTGTTTTAACCCCTGGGGGAAGTTGCATGTCAGCAGCCGATGAAGTAATGTG
GCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCATGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCTATTAGCTGTGGGGCCCCCTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGATCGAAGCCAGGCATGGGAATTACCACCACCAATATTAGCTTTGGATCCAAAACATAAAAAGCCTCAGAGCAATGGTGGGCTTTTTTTTTTTTTTTTTTTAAATGGGAACTATGACTCCCATGTCCTTAGGTTGTTGTAAGGCTTAAATGAGTTAATACACTTACAACATTAGAACAGCGCCAGCATAAAGTAAAACTCAAAAATATTATTACTGTTAGTATTAAACATTGTTTTAACCCCTGGGGGAAGTTGCATGTCAGCAGCCGATGAAGTAATGTG
Task1_train_1236
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; Retinitis pigmentosa 19
GCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCTATTAGCTGTGGGGCCCCCTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGATCGAAGCCAGGCATGGGAATTACCACCACCAATATTAGCTTTGGATCCAAAACATAAAAAGCCTCAGAGCAATGGTGGGCTTTTTTTTTTTTTTTTTTTAAATGGGAACTATGACTCCCATGTCCTTAGGTTGTTGTAAGGCTTAAATGAGTTAATACACTTACAACATTAGAACAGCGCCAGCATAAAGTAAAACTCAAAAATATTATTACTGTTAGTATTAAACATTGTTTTAACCCCTGGGGGAAGTTGCATGTCAGCAGCCGATGAAGTAATGTG
GCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCATGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCTATTAGCTGTGGGGCCCCCTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGATCGAAGCCAGGCATGGGAATTACCACCACCAATATTAGCTTTGGATCCAAAACATAAAAAGCCTCAGAGCAATGGTGGGCTTTTTTTTTTTTTTTTTTTAAATGGGAACTATGACTCCCATGTCCTTAGGTTGTTGTAAGGCTTAAATGAGTTAATACACTTACAACATTAGAACAGCGCCAGCATAAAGTAAAACTCAAAAATATTATTACTGTTAGTATTAAACATTGTTTTAACCCCTGGGGGAAGTTGCATGTCAGCAGCCGATGAAGTAATGTG
Task1_train_1237
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?
Pathogenic; Severe early-childhood-onset retinal dystrophy
GCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCTATTAGCTGTGGGGCCCCCTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGATCGAAGCCAGGCATGGGAATTACCACCACCAATATTAGCTTTGGATCCAAAACATAAAAAGCCTCAGAGCAATGGTGGGCTTTTTTTTTTTTTTTTTTTAAATGGGAACTATGACTCCCATGTCCTTAGGTTGTTGTAAGGCTTAAATGAGTTAATACACTTACAACATTAGAACAGCGCCAGCATAAAGTAAAACTCAAAAATATTATTACTGTTAGTATTAAACATTGTTTTAACCCCTGGGGGAAGTTGCATGTCAGCAGCCGATGAAGTAATGTG
GCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCATGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCTATTAGCTGTGGGGCCCCCTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGATCGAAGCCAGGCATGGGAATTACCACCACCAATATTAGCTTTGGATCCAAAACATAAAAAGCCTCAGAGCAATGGTGGGCTTTTTTTTTTTTTTTTTTTAAATGGGAACTATGACTCCCATGTCCTTAGGTTGTTGTAAGGCTTAAATGAGTTAATACACTTACAACATTAGAACAGCGCCAGCATAAAGTAAAACTCAAAAATATTATTACTGTTAGTATTAAACATTGTTTTAACCCCTGGGGGAAGTTGCATGTCAGCAGCCGATGAAGTAATGTG
Task1_train_1238
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?
Pathogenic; Age related macular degeneration 2
GCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCTATTAGCTGTGGGGCCCCCTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGATCGAAGCCAGGCATGGGAATTACCACCACCAATATTAGCTTTGGATCCAAAACATAAAAAGCCTCAGAGCAATGGTGGGCTTTTTTTTTTTTTTTTTTTAAATGGGAACTATGACTCCCATGTCCTTAGGTTGTTGTAAGGCTTAAATGAGTTAATACACTTACAACATTAGAACAGCGCCAGCATAAAGTAAAACTCAAAAATATTATTACTGTTAGTATTAAACATTGTTTTAACCCCTGGGGGAAGTTGCATGTCAGCAGCCGATGAAGTAATGTG
GCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCATGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCTATTAGCTGTGGGGCCCCCTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGATCGAAGCCAGGCATGGGAATTACCACCACCAATATTAGCTTTGGATCCAAAACATAAAAAGCCTCAGAGCAATGGTGGGCTTTTTTTTTTTTTTTTTTTAAATGGGAACTATGACTCCCATGTCCTTAGGTTGTTGTAAGGCTTAAATGAGTTAATACACTTACAACATTAGAACAGCGCCAGCATAAAGTAAAACTCAAAAATATTATTACTGTTAGTATTAAACATTGTTTTAACCCCTGGGGGAAGTTGCATGTCAGCAGCCGATGAAGTAATGTG
Task1_train_1239
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; Cone-rod dystrophy 3
GCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCTATTAGCTGTGGGGCCCCCTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGATCGAAGCCAGGCATGGGAATTACCACCACCAATATTAGCTTTGGATCCAAAACATAAAAAGCCTCAGAGCAATGGTGGGCTTTTTTTTTTTTTTTTTTTAAATGGGAACTATGACTCCCATGTCCTTAGGTTGTTGTAAGGCTTAAATGAGTTAATACACTTACAACATTAGAACAGCGCCAGCATAAAGTAAAACTCAAAAATATTATTACTGTTAGTATTAAACATTGTTTTAACCCCTGGGGGAAGTTGCATGTCAGCAGCCGATGAAGTAATGTG
GCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCATGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCTATTAGCTGTGGGGCCCCCTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGATCGAAGCCAGGCATGGGAATTACCACCACCAATATTAGCTTTGGATCCAAAACATAAAAAGCCTCAGAGCAATGGTGGGCTTTTTTTTTTTTTTTTTTTAAATGGGAACTATGACTCCCATGTCCTTAGGTTGTTGTAAGGCTTAAATGAGTTAATACACTTACAACATTAGAACAGCGCCAGCATAAAGTAAAACTCAAAAATATTATTACTGTTAGTATTAAACATTGTTTTAACCCCTGGGGGAAGTTGCATGTCAGCAGCCGATGAAGTAATGTG
Task1_train_1240
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?
Pathogenic; Retinal dystrophy
GCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCTATTAGCTGTGGGGCCCCCTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGATCGAAGCCAGGCATGGGAATTACCACCACCAATATTAGCTTTGGATCCAAAACATAAAAAGCCTCAGAGCAATGGTGGGCTTTTTTTTTTTTTTTTTTTAAATGGGAACTATGACTCCCATGTCCTTAGGTTGTTGTAAGGCTTAAATGAGTTAATACACTTACAACATTAGAACAGCGCCAGCATAAAGTAAAACTCAAAAATATTATTACTGTTAGTATTAAACATTGTTTTAACCCCTGGGGGAAGTTGCATGTCAGCAGCCGATGAAGTAATGTG
GCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCATGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCTATTAGCTGTGGGGCCCCCTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGATCGAAGCCAGGCATGGGAATTACCACCACCAATATTAGCTTTGGATCCAAAACATAAAAAGCCTCAGAGCAATGGTGGGCTTTTTTTTTTTTTTTTTTTAAATGGGAACTATGACTCCCATGTCCTTAGGTTGTTGTAAGGCTTAAATGAGTTAATACACTTACAACATTAGAACAGCGCCAGCATAAAGTAAAACTCAAAAATATTATTACTGTTAGTATTAAACATTGTTTTAACCCCTGGGGGAAGTTGCATGTCAGCAGCCGATGAAGTAATGTG
Task1_train_1241
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.
Pathogenic; Cone-rod dystrophy 3
CAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCTATTAGCTGTGGGGCCCCCTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGATCGAAGCCAGGCATGGGAATTACCACCACCAATATTAGCTTTGGATCCAAAACATAAAAAGCCTCAGAGCAATGGTGGGCTTTTTTTTTTTTTTTTTTTAAATGGGAACTATGACTCCCATGTCCTTAGGTTGTTGTAAGGCTTAAATGAGTTAATACACTTACAACATTAGAACAGCGCCAGCATAAAGTAAAACTCAAAAATATTATTACTGTTAGTATTAAACATTGTTTTAACCCCTGGGGGAAGTTGCATGTCAGCAGCCGATGAAGTAATGTGT
CAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGCGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCTATTAGCTGTGGGGCCCCCTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGATCGAAGCCAGGCATGGGAATTACCACCACCAATATTAGCTTTGGATCCAAAACATAAAAAGCCTCAGAGCAATGGTGGGCTTTTTTTTTTTTTTTTTTTAAATGGGAACTATGACTCCCATGTCCTTAGGTTGTTGTAAGGCTTAAATGAGTTAATACACTTACAACATTAGAACAGCGCCAGCATAAAGTAAAACTCAAAAATATTATTACTGTTAGTATTAAACATTGTTTTAACCCCTGGGGGAAGTTGCATGTCAGCAGCCGATGAAGTAATGTGT
Task1_train_1242
A mutation found in ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Retinitis pigmentosa 19
CAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCTATTAGCTGTGGGGCCCCCTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGATCGAAGCCAGGCATGGGAATTACCACCACCAATATTAGCTTTGGATCCAAAACATAAAAAGCCTCAGAGCAATGGTGGGCTTTTTTTTTTTTTTTTTTTAAATGGGAACTATGACTCCCATGTCCTTAGGTTGTTGTAAGGCTTAAATGAGTTAATACACTTACAACATTAGAACAGCGCCAGCATAAAGTAAAACTCAAAAATATTATTACTGTTAGTATTAAACATTGTTTTAACCCCTGGGGGAAGTTGCATGTCAGCAGCCGATGAAGTAATGTGT
CAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGCGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCTATTAGCTGTGGGGCCCCCTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGATCGAAGCCAGGCATGGGAATTACCACCACCAATATTAGCTTTGGATCCAAAACATAAAAAGCCTCAGAGCAATGGTGGGCTTTTTTTTTTTTTTTTTTTAAATGGGAACTATGACTCCCATGTCCTTAGGTTGTTGTAAGGCTTAAATGAGTTAATACACTTACAACATTAGAACAGCGCCAGCATAAAGTAAAACTCAAAAATATTATTACTGTTAGTATTAAACATTGTTTTAACCCCTGGGGGAAGTTGCATGTCAGCAGCCGATGAAGTAATGTGT
Task1_train_1243
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; Age related macular degeneration 2
CAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCTATTAGCTGTGGGGCCCCCTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGATCGAAGCCAGGCATGGGAATTACCACCACCAATATTAGCTTTGGATCCAAAACATAAAAAGCCTCAGAGCAATGGTGGGCTTTTTTTTTTTTTTTTTTTAAATGGGAACTATGACTCCCATGTCCTTAGGTTGTTGTAAGGCTTAAATGAGTTAATACACTTACAACATTAGAACAGCGCCAGCATAAAGTAAAACTCAAAAATATTATTACTGTTAGTATTAAACATTGTTTTAACCCCTGGGGGAAGTTGCATGTCAGCAGCCGATGAAGTAATGTGT
CAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGCGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCTATTAGCTGTGGGGCCCCCTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGATCGAAGCCAGGCATGGGAATTACCACCACCAATATTAGCTTTGGATCCAAAACATAAAAAGCCTCAGAGCAATGGTGGGCTTTTTTTTTTTTTTTTTTTAAATGGGAACTATGACTCCCATGTCCTTAGGTTGTTGTAAGGCTTAAATGAGTTAATACACTTACAACATTAGAACAGCGCCAGCATAAAGTAAAACTCAAAAATATTATTACTGTTAGTATTAAACATTGTTTTAACCCCTGGGGGAAGTTGCATGTCAGCAGCCGATGAAGTAATGTGT
Task1_train_1244
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
CAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCTATTAGCTGTGGGGCCCCCTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGATCGAAGCCAGGCATGGGAATTACCACCACCAATATTAGCTTTGGATCCAAAACATAAAAAGCCTCAGAGCAATGGTGGGCTTTTTTTTTTTTTTTTTTTAAATGGGAACTATGACTCCCATGTCCTTAGGTTGTTGTAAGGCTTAAATGAGTTAATACACTTACAACATTAGAACAGCGCCAGCATAAAGTAAAACTCAAAAATATTATTACTGTTAGTATTAAACATTGTTTTAACCCCTGGGGGAAGTTGCATGTCAGCAGCCGATGAAGTAATGTGT
CAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGATTTATACTCTTCATAAAGAACACACACGTGCATACTCTCACTAACTGGAGATGTCATTAACAGAAAACAGCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGCGGGAGGATCACCTGAGGTCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAATTAGCTAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTCGAACCCAGGAGGCGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGGGGCAACGCTGTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCAGGTCAAGAGAATTTTCTAAAATATTTTGGGAAGTAGGTTGCATCATCAGTGATTCTCTGTTTATATTTGTAAAAACCTCAGGAGGCTTTAGCTGGAACTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGCGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCTATTAGCTGTGGGGCCCCCTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGATCGAAGCCAGGCATGGGAATTACCACCACCAATATTAGCTTTGGATCCAAAACATAAAAAGCCTCAGAGCAATGGTGGGCTTTTTTTTTTTTTTTTTTTAAATGGGAACTATGACTCCCATGTCCTTAGGTTGTTGTAAGGCTTAAATGAGTTAATACACTTACAACATTAGAACAGCGCCAGCATAAAGTAAAACTCAAAAATATTATTACTGTTAGTATTAAACATTGTTTTAACCCCTGGGGGAAGTTGCATGTCAGCAGCCGATGAAGTAATGTGT
Task1_train_1245
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?
Pathogenic; not provided
CTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCTATTAGCTGTGGGGCCCCCTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGATCGAAGCCAGGCATGGGAATTACCACCACCAATATTAGCTTTGGATCCAAAACATAAAAAGCCTCAGAGCAATGGTGGGCTTTTTTTTTTTTTTTTTTTAAATGGGAACTATGACTCCCATGTCCTTAGGTTGTTGTAAGGCTTAAATGAGTTAATACACTTACAACATTAGAACAGCGCCAGCATAAAGTAAAACTCAAAAATATTATTACTGTTAGTATTAAACATTGTTTTAACCCCTGGGGGAAGTTGCATGTCAGCAGCCGATGAAGTAATGTGTTTGCCTTTGCGGAGCCCTGGGGTCCTGGAATTTGCTTCCAGCTCTCTGACCATATCAGTTAGCATGGAGAGAAAGCAGATGGATGCAGGGCCGCCACACCCAGCTCTGTCCCTGAGTTCTGATACCATCTCAGGCTATCTGAACTTGTCCTGATGGAGAAGCCGAAATCTCCGCGATCAACCACTAGAGGGAAACAGAACCAATTAGAATGGCACCGGCCCCACATTCCATTCACACTGAACCGCCCTAGAGAACATTCCATCACAGGGTGTACACGCTGTTGTTCCTTCCTGGGGCTCTCCAAAGGACTTGAAGACTGTGTCACGTGGGTTCGCTGCCCCCTGCGAGGTCCGTGTCTGCTGCTCCTTGGGAAACCATGGCGGGCCGTGTTCTCCTCTCAGCAGATGGCGCTCGGGTCCCTTGGAGGAGAGTGGGGCGCCTGCGGAGCTGAGAGATCCGCGCAGAGCCCCTTTGCCTTCCCTGCCCTGACCTTCTGTTACCAGGCGGTTACTCCACAAGCCCCTCTAGAGACTGATTCTTTTTTCACTTTCTCCAGAACGACCACTAACCCTCATCAGCTGATGTTGAAGCCTGCCTAATGATTGGTAGGAAAAGGAATGTTCCTTGAAAATAGCAGGACTCGGCCTGGTGCGGTCGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTGTACTAAAAAAAAAAAAAAAAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTATGCACCTGTAGTCCCACCTACTTGGGAGGCTGAGGTGGGAGAATCGCTTGATCCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGCACCACTGCCCTCCAGCATGGGTAATGGTTACTATCTCAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAGAAAGGAAATAGGAGGACTCTATAGCTTCCATGCACATGATGACAGTGGCCATGACTTGATCACCACCATGGACTGTTGAGATGGGGGGAAAGACTCAAGGTGTGAGAAACAAGAGGCAACTGTGGTGCCTGGCTTTTGCCCCCGCTGAGCCATGACAACTTGGTGGCTTCAGGAAAGTCACTTCAACTCTCTGAATGAATGTCCACTTCCCCGGCAC
CTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCAGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCTATTAGCTGTGGGGCCCCCTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGATCGAAGCCAGGCATGGGAATTACCACCACCAATATTAGCTTTGGATCCAAAACATAAAAAGCCTCAGAGCAATGGTGGGCTTTTTTTTTTTTTTTTTTTAAATGGGAACTATGACTCCCATGTCCTTAGGTTGTTGTAAGGCTTAAATGAGTTAATACACTTACAACATTAGAACAGCGCCAGCATAAAGTAAAACTCAAAAATATTATTACTGTTAGTATTAAACATTGTTTTAACCCCTGGGGGAAGTTGCATGTCAGCAGCCGATGAAGTAATGTGTTTGCCTTTGCGGAGCCCTGGGGTCCTGGAATTTGCTTCCAGCTCTCTGACCATATCAGTTAGCATGGAGAGAAAGCAGATGGATGCAGGGCCGCCACACCCAGCTCTGTCCCTGAGTTCTGATACCATCTCAGGCTATCTGAACTTGTCCTGATGGAGAAGCCGAAATCTCCGCGATCAACCACTAGAGGGAAACAGAACCAATTAGAATGGCACCGGCCCCACATTCCATTCACACTGAACCGCCCTAGAGAACATTCCATCACAGGGTGTACACGCTGTTGTTCCTTCCTGGGGCTCTCCAAAGGACTTGAAGACTGTGTCACGTGGGTTCGCTGCCCCCTGCGAGGTCCGTGTCTGCTGCTCCTTGGGAAACCATGGCGGGCCGTGTTCTCCTCTCAGCAGATGGCGCTCGGGTCCCTTGGAGGAGAGTGGGGCGCCTGCGGAGCTGAGAGATCCGCGCAGAGCCCCTTTGCCTTCCCTGCCCTGACCTTCTGTTACCAGGCGGTTACTCCACAAGCCCCTCTAGAGACTGATTCTTTTTTCACTTTCTCCAGAACGACCACTAACCCTCATCAGCTGATGTTGAAGCCTGCCTAATGATTGGTAGGAAAAGGAATGTTCCTTGAAAATAGCAGGACTCGGCCTGGTGCGGTCGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTGTACTAAAAAAAAAAAAAAAAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTATGCACCTGTAGTCCCACCTACTTGGGAGGCTGAGGTGGGAGAATCGCTTGATCCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGCACCACTGCCCTCCAGCATGGGTAATGGTTACTATCTCAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAGAAAGGAAATAGGAGGACTCTATAGCTTCCATGCACATGATGACAGTGGCCATGACTTGATCACCACCATGGACTGTTGAGATGGGGGGAAAGACTCAAGGTGTGAGAAACAAGAGGCAACTGTGGTGCCTGGCTTTTGCCCCCGCTGAGCCATGACAACTTGGTGGCTTCAGGAAAGTCACTTCAACTCTCTGAATGAATGTCCACTTCCCCGGCAC
Task1_train_1246
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?
Pathogenic; Severe early-childhood-onset retinal dystrophy
TCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCTATTAGCTGTGGGGCCCCCTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGATCGAAGCCAGGCATGGGAATTACCACCACCAATATTAGCTTTGGATCCAAAACATAAAAAGCCTCAGAGCAATGGTGGGCTTTTTTTTTTTTTTTTTTTAAATGGGAACTATGACTCCCATGTCCTTAGGTTGTTGTAAGGCTTAAATGAGTTAATACACTTACAACATTAGAACAGCGCCAGCATAAAGTAAAACTCAAAAATATTATTACTGTTAGTATTAAACATTGTTTTAACCCCTGGGGGAAGTTGCATGTCAGCAGCCGATGAAGTAATGTGTTTGCCTTTGCGGAGCCCTGGGGTCCTGGAATTTGCTTCCAGCTCTCTGACCATATCAGTTAGCATGGAGAGAAAGCAGATGGATGCAGGGCCGCCACACCCAGCTCTGTCCCTGAGTTCTGATACCATCTCAGGCTATCTGAACTTGTCCTGATGGAGAAGCCGAAATCTCCGCGATCAACCACTAGAGGGAAACAGAACCAATTAGAATGGCACCGGCCCCACATTCCATTCACACTGAACCGCCCTAGAGAACATTCCATCACAGGGTGTACACGCTGTTGTTCCTTCCTGGGGCTCTCCAAAGGACTTGAAGACTGTGTCACGTGGGTTCGCTGCCCCCTGCGAGGTCCGTGTCTGCTGCTCCTTGGGAAACCATGGCGGGCCGTGTTCTCCTCTCAGCAGATGGCGCTCGGGTCCCTTGGAGGAGAGTGGGGCGCCTGCGGAGCTGAGAGATCCGCGCAGAGCCCCTTTGCCTTCCCTGCCCTGACCTTCTGTTACCAGGCGGTTACTCCACAAGCCCCTCTAGAGACTGATTCTTTTTTCACTTTCTCCAGAACGACCACTAACCCTCATCAGCTGATGTTGAAGCCTGCCTAATGATTGGTAGGAAAAGGAATGTTCCTTGAAAATAGCAGGACTCGGCCTGGTGCGGTCGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTGTACTAAAAAAAAAAAAAAAAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTATGCACCTGTAGTCCCACCTACTTGGGAGGCTGAGGTGGGAGAATCGCTTGATCCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGCACCACTGCCCTCCAGCATGGGTAATGGTTACTATCTCAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAGAAAGGAAATAGGAGGACTCTATAGCTTCCATGCACATGATGACAGTGGCCATGACTTGATCACCACCATGGACTGTTGAGATGGGGGGAAAGACTCAAGGTGTGAGAAACAAGAGGCAACTGTGGTGCCTGGCTTTTGCCCCCGCTGAGCCATGACAACTTGGTGGCTTCAGGAAAGTCACTTCAACTCTCTGAATGAATGTCCACTTCCCCGGCACACAAAAGGGGCAATAAACGTATTCTACCTCCC
TCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTACCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCTATTAGCTGTGGGGCCCCCTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGATCGAAGCCAGGCATGGGAATTACCACCACCAATATTAGCTTTGGATCCAAAACATAAAAAGCCTCAGAGCAATGGTGGGCTTTTTTTTTTTTTTTTTTTAAATGGGAACTATGACTCCCATGTCCTTAGGTTGTTGTAAGGCTTAAATGAGTTAATACACTTACAACATTAGAACAGCGCCAGCATAAAGTAAAACTCAAAAATATTATTACTGTTAGTATTAAACATTGTTTTAACCCCTGGGGGAAGTTGCATGTCAGCAGCCGATGAAGTAATGTGTTTGCCTTTGCGGAGCCCTGGGGTCCTGGAATTTGCTTCCAGCTCTCTGACCATATCAGTTAGCATGGAGAGAAAGCAGATGGATGCAGGGCCGCCACACCCAGCTCTGTCCCTGAGTTCTGATACCATCTCAGGCTATCTGAACTTGTCCTGATGGAGAAGCCGAAATCTCCGCGATCAACCACTAGAGGGAAACAGAACCAATTAGAATGGCACCGGCCCCACATTCCATTCACACTGAACCGCCCTAGAGAACATTCCATCACAGGGTGTACACGCTGTTGTTCCTTCCTGGGGCTCTCCAAAGGACTTGAAGACTGTGTCACGTGGGTTCGCTGCCCCCTGCGAGGTCCGTGTCTGCTGCTCCTTGGGAAACCATGGCGGGCCGTGTTCTCCTCTCAGCAGATGGCGCTCGGGTCCCTTGGAGGAGAGTGGGGCGCCTGCGGAGCTGAGAGATCCGCGCAGAGCCCCTTTGCCTTCCCTGCCCTGACCTTCTGTTACCAGGCGGTTACTCCACAAGCCCCTCTAGAGACTGATTCTTTTTTCACTTTCTCCAGAACGACCACTAACCCTCATCAGCTGATGTTGAAGCCTGCCTAATGATTGGTAGGAAAAGGAATGTTCCTTGAAAATAGCAGGACTCGGCCTGGTGCGGTCGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTGTACTAAAAAAAAAAAAAAAAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTATGCACCTGTAGTCCCACCTACTTGGGAGGCTGAGGTGGGAGAATCGCTTGATCCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGCACCACTGCCCTCCAGCATGGGTAATGGTTACTATCTCAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAGAAAGGAAATAGGAGGACTCTATAGCTTCCATGCACATGATGACAGTGGCCATGACTTGATCACCACCATGGACTGTTGAGATGGGGGGAAAGACTCAAGGTGTGAGAAACAAGAGGCAACTGTGGTGCCTGGCTTTTGCCCCCGCTGAGCCATGACAACTTGGTGGCTTCAGGAAAGTCACTTCAACTCTCTGAATGAATGTCCACTTCCCCGGCACACAAAAGGGGCAATAAACGTATTCTACCTCCC
Task1_train_1247
The variant affects gene ABCA4 (ATP binding cassette subfamily A member 4), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Age related macular degeneration 2
TCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCTATTAGCTGTGGGGCCCCCTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGATCGAAGCCAGGCATGGGAATTACCACCACCAATATTAGCTTTGGATCCAAAACATAAAAAGCCTCAGAGCAATGGTGGGCTTTTTTTTTTTTTTTTTTTAAATGGGAACTATGACTCCCATGTCCTTAGGTTGTTGTAAGGCTTAAATGAGTTAATACACTTACAACATTAGAACAGCGCCAGCATAAAGTAAAACTCAAAAATATTATTACTGTTAGTATTAAACATTGTTTTAACCCCTGGGGGAAGTTGCATGTCAGCAGCCGATGAAGTAATGTGTTTGCCTTTGCGGAGCCCTGGGGTCCTGGAATTTGCTTCCAGCTCTCTGACCATATCAGTTAGCATGGAGAGAAAGCAGATGGATGCAGGGCCGCCACACCCAGCTCTGTCCCTGAGTTCTGATACCATCTCAGGCTATCTGAACTTGTCCTGATGGAGAAGCCGAAATCTCCGCGATCAACCACTAGAGGGAAACAGAACCAATTAGAATGGCACCGGCCCCACATTCCATTCACACTGAACCGCCCTAGAGAACATTCCATCACAGGGTGTACACGCTGTTGTTCCTTCCTGGGGCTCTCCAAAGGACTTGAAGACTGTGTCACGTGGGTTCGCTGCCCCCTGCGAGGTCCGTGTCTGCTGCTCCTTGGGAAACCATGGCGGGCCGTGTTCTCCTCTCAGCAGATGGCGCTCGGGTCCCTTGGAGGAGAGTGGGGCGCCTGCGGAGCTGAGAGATCCGCGCAGAGCCCCTTTGCCTTCCCTGCCCTGACCTTCTGTTACCAGGCGGTTACTCCACAAGCCCCTCTAGAGACTGATTCTTTTTTCACTTTCTCCAGAACGACCACTAACCCTCATCAGCTGATGTTGAAGCCTGCCTAATGATTGGTAGGAAAAGGAATGTTCCTTGAAAATAGCAGGACTCGGCCTGGTGCGGTCGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTGTACTAAAAAAAAAAAAAAAAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTATGCACCTGTAGTCCCACCTACTTGGGAGGCTGAGGTGGGAGAATCGCTTGATCCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGCACCACTGCCCTCCAGCATGGGTAATGGTTACTATCTCAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAGAAAGGAAATAGGAGGACTCTATAGCTTCCATGCACATGATGACAGTGGCCATGACTTGATCACCACCATGGACTGTTGAGATGGGGGGAAAGACTCAAGGTGTGAGAAACAAGAGGCAACTGTGGTGCCTGGCTTTTGCCCCCGCTGAGCCATGACAACTTGGTGGCTTCAGGAAAGTCACTTCAACTCTCTGAATGAATGTCCACTTCCCCGGCACACAAAAGGGGCAATAAACGTATTCTACCTCCC
TCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTACCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCTATTAGCTGTGGGGCCCCCTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGATCGAAGCCAGGCATGGGAATTACCACCACCAATATTAGCTTTGGATCCAAAACATAAAAAGCCTCAGAGCAATGGTGGGCTTTTTTTTTTTTTTTTTTTAAATGGGAACTATGACTCCCATGTCCTTAGGTTGTTGTAAGGCTTAAATGAGTTAATACACTTACAACATTAGAACAGCGCCAGCATAAAGTAAAACTCAAAAATATTATTACTGTTAGTATTAAACATTGTTTTAACCCCTGGGGGAAGTTGCATGTCAGCAGCCGATGAAGTAATGTGTTTGCCTTTGCGGAGCCCTGGGGTCCTGGAATTTGCTTCCAGCTCTCTGACCATATCAGTTAGCATGGAGAGAAAGCAGATGGATGCAGGGCCGCCACACCCAGCTCTGTCCCTGAGTTCTGATACCATCTCAGGCTATCTGAACTTGTCCTGATGGAGAAGCCGAAATCTCCGCGATCAACCACTAGAGGGAAACAGAACCAATTAGAATGGCACCGGCCCCACATTCCATTCACACTGAACCGCCCTAGAGAACATTCCATCACAGGGTGTACACGCTGTTGTTCCTTCCTGGGGCTCTCCAAAGGACTTGAAGACTGTGTCACGTGGGTTCGCTGCCCCCTGCGAGGTCCGTGTCTGCTGCTCCTTGGGAAACCATGGCGGGCCGTGTTCTCCTCTCAGCAGATGGCGCTCGGGTCCCTTGGAGGAGAGTGGGGCGCCTGCGGAGCTGAGAGATCCGCGCAGAGCCCCTTTGCCTTCCCTGCCCTGACCTTCTGTTACCAGGCGGTTACTCCACAAGCCCCTCTAGAGACTGATTCTTTTTTCACTTTCTCCAGAACGACCACTAACCCTCATCAGCTGATGTTGAAGCCTGCCTAATGATTGGTAGGAAAAGGAATGTTCCTTGAAAATAGCAGGACTCGGCCTGGTGCGGTCGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTGTACTAAAAAAAAAAAAAAAAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTATGCACCTGTAGTCCCACCTACTTGGGAGGCTGAGGTGGGAGAATCGCTTGATCCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGCACCACTGCCCTCCAGCATGGGTAATGGTTACTATCTCAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAGAAAGGAAATAGGAGGACTCTATAGCTTCCATGCACATGATGACAGTGGCCATGACTTGATCACCACCATGGACTGTTGAGATGGGGGGAAAGACTCAAGGTGTGAGAAACAAGAGGCAACTGTGGTGCCTGGCTTTTGCCCCCGCTGAGCCATGACAACTTGGTGGCTTCAGGAAAGTCACTTCAACTCTCTGAATGAATGTCCACTTCCCCGGCACACAAAAGGGGCAATAAACGTATTCTACCTCCC
Task1_train_1248
The variant affects gene ABCA4 (ATP binding cassette subfamily A member 4), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Cone-rod dystrophy 3
TCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCTATTAGCTGTGGGGCCCCCTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGATCGAAGCCAGGCATGGGAATTACCACCACCAATATTAGCTTTGGATCCAAAACATAAAAAGCCTCAGAGCAATGGTGGGCTTTTTTTTTTTTTTTTTTTAAATGGGAACTATGACTCCCATGTCCTTAGGTTGTTGTAAGGCTTAAATGAGTTAATACACTTACAACATTAGAACAGCGCCAGCATAAAGTAAAACTCAAAAATATTATTACTGTTAGTATTAAACATTGTTTTAACCCCTGGGGGAAGTTGCATGTCAGCAGCCGATGAAGTAATGTGTTTGCCTTTGCGGAGCCCTGGGGTCCTGGAATTTGCTTCCAGCTCTCTGACCATATCAGTTAGCATGGAGAGAAAGCAGATGGATGCAGGGCCGCCACACCCAGCTCTGTCCCTGAGTTCTGATACCATCTCAGGCTATCTGAACTTGTCCTGATGGAGAAGCCGAAATCTCCGCGATCAACCACTAGAGGGAAACAGAACCAATTAGAATGGCACCGGCCCCACATTCCATTCACACTGAACCGCCCTAGAGAACATTCCATCACAGGGTGTACACGCTGTTGTTCCTTCCTGGGGCTCTCCAAAGGACTTGAAGACTGTGTCACGTGGGTTCGCTGCCCCCTGCGAGGTCCGTGTCTGCTGCTCCTTGGGAAACCATGGCGGGCCGTGTTCTCCTCTCAGCAGATGGCGCTCGGGTCCCTTGGAGGAGAGTGGGGCGCCTGCGGAGCTGAGAGATCCGCGCAGAGCCCCTTTGCCTTCCCTGCCCTGACCTTCTGTTACCAGGCGGTTACTCCACAAGCCCCTCTAGAGACTGATTCTTTTTTCACTTTCTCCAGAACGACCACTAACCCTCATCAGCTGATGTTGAAGCCTGCCTAATGATTGGTAGGAAAAGGAATGTTCCTTGAAAATAGCAGGACTCGGCCTGGTGCGGTCGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTGTACTAAAAAAAAAAAAAAAAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTATGCACCTGTAGTCCCACCTACTTGGGAGGCTGAGGTGGGAGAATCGCTTGATCCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGCACCACTGCCCTCCAGCATGGGTAATGGTTACTATCTCAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAGAAAGGAAATAGGAGGACTCTATAGCTTCCATGCACATGATGACAGTGGCCATGACTTGATCACCACCATGGACTGTTGAGATGGGGGGAAAGACTCAAGGTGTGAGAAACAAGAGGCAACTGTGGTGCCTGGCTTTTGCCCCCGCTGAGCCATGACAACTTGGTGGCTTCAGGAAAGTCACTTCAACTCTCTGAATGAATGTCCACTTCCCCGGCACACAAAAGGGGCAATAAACGTATTCTACCTCCC
TCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTACCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCTATTAGCTGTGGGGCCCCCTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGATCGAAGCCAGGCATGGGAATTACCACCACCAATATTAGCTTTGGATCCAAAACATAAAAAGCCTCAGAGCAATGGTGGGCTTTTTTTTTTTTTTTTTTTAAATGGGAACTATGACTCCCATGTCCTTAGGTTGTTGTAAGGCTTAAATGAGTTAATACACTTACAACATTAGAACAGCGCCAGCATAAAGTAAAACTCAAAAATATTATTACTGTTAGTATTAAACATTGTTTTAACCCCTGGGGGAAGTTGCATGTCAGCAGCCGATGAAGTAATGTGTTTGCCTTTGCGGAGCCCTGGGGTCCTGGAATTTGCTTCCAGCTCTCTGACCATATCAGTTAGCATGGAGAGAAAGCAGATGGATGCAGGGCCGCCACACCCAGCTCTGTCCCTGAGTTCTGATACCATCTCAGGCTATCTGAACTTGTCCTGATGGAGAAGCCGAAATCTCCGCGATCAACCACTAGAGGGAAACAGAACCAATTAGAATGGCACCGGCCCCACATTCCATTCACACTGAACCGCCCTAGAGAACATTCCATCACAGGGTGTACACGCTGTTGTTCCTTCCTGGGGCTCTCCAAAGGACTTGAAGACTGTGTCACGTGGGTTCGCTGCCCCCTGCGAGGTCCGTGTCTGCTGCTCCTTGGGAAACCATGGCGGGCCGTGTTCTCCTCTCAGCAGATGGCGCTCGGGTCCCTTGGAGGAGAGTGGGGCGCCTGCGGAGCTGAGAGATCCGCGCAGAGCCCCTTTGCCTTCCCTGCCCTGACCTTCTGTTACCAGGCGGTTACTCCACAAGCCCCTCTAGAGACTGATTCTTTTTTCACTTTCTCCAGAACGACCACTAACCCTCATCAGCTGATGTTGAAGCCTGCCTAATGATTGGTAGGAAAAGGAATGTTCCTTGAAAATAGCAGGACTCGGCCTGGTGCGGTCGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTGTACTAAAAAAAAAAAAAAAAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTATGCACCTGTAGTCCCACCTACTTGGGAGGCTGAGGTGGGAGAATCGCTTGATCCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGCACCACTGCCCTCCAGCATGGGTAATGGTTACTATCTCAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAGAAAGGAAATAGGAGGACTCTATAGCTTCCATGCACATGATGACAGTGGCCATGACTTGATCACCACCATGGACTGTTGAGATGGGGGGAAAGACTCAAGGTGTGAGAAACAAGAGGCAACTGTGGTGCCTGGCTTTTGCCCCCGCTGAGCCATGACAACTTGGTGGCTTCAGGAAAGTCACTTCAACTCTCTGAATGAATGTCCACTTCCCCGGCACACAAAAGGGGCAATAAACGTATTCTACCTCCC
Task1_train_1249
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?
Pathogenic; Retinitis pigmentosa 19
TCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCTATTAGCTGTGGGGCCCCCTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGATCGAAGCCAGGCATGGGAATTACCACCACCAATATTAGCTTTGGATCCAAAACATAAAAAGCCTCAGAGCAATGGTGGGCTTTTTTTTTTTTTTTTTTTAAATGGGAACTATGACTCCCATGTCCTTAGGTTGTTGTAAGGCTTAAATGAGTTAATACACTTACAACATTAGAACAGCGCCAGCATAAAGTAAAACTCAAAAATATTATTACTGTTAGTATTAAACATTGTTTTAACCCCTGGGGGAAGTTGCATGTCAGCAGCCGATGAAGTAATGTGTTTGCCTTTGCGGAGCCCTGGGGTCCTGGAATTTGCTTCCAGCTCTCTGACCATATCAGTTAGCATGGAGAGAAAGCAGATGGATGCAGGGCCGCCACACCCAGCTCTGTCCCTGAGTTCTGATACCATCTCAGGCTATCTGAACTTGTCCTGATGGAGAAGCCGAAATCTCCGCGATCAACCACTAGAGGGAAACAGAACCAATTAGAATGGCACCGGCCCCACATTCCATTCACACTGAACCGCCCTAGAGAACATTCCATCACAGGGTGTACACGCTGTTGTTCCTTCCTGGGGCTCTCCAAAGGACTTGAAGACTGTGTCACGTGGGTTCGCTGCCCCCTGCGAGGTCCGTGTCTGCTGCTCCTTGGGAAACCATGGCGGGCCGTGTTCTCCTCTCAGCAGATGGCGCTCGGGTCCCTTGGAGGAGAGTGGGGCGCCTGCGGAGCTGAGAGATCCGCGCAGAGCCCCTTTGCCTTCCCTGCCCTGACCTTCTGTTACCAGGCGGTTACTCCACAAGCCCCTCTAGAGACTGATTCTTTTTTCACTTTCTCCAGAACGACCACTAACCCTCATCAGCTGATGTTGAAGCCTGCCTAATGATTGGTAGGAAAAGGAATGTTCCTTGAAAATAGCAGGACTCGGCCTGGTGCGGTCGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTGTACTAAAAAAAAAAAAAAAAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTATGCACCTGTAGTCCCACCTACTTGGGAGGCTGAGGTGGGAGAATCGCTTGATCCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGCACCACTGCCCTCCAGCATGGGTAATGGTTACTATCTCAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAGAAAGGAAATAGGAGGACTCTATAGCTTCCATGCACATGATGACAGTGGCCATGACTTGATCACCACCATGGACTGTTGAGATGGGGGGAAAGACTCAAGGTGTGAGAAACAAGAGGCAACTGTGGTGCCTGGCTTTTGCCCCCGCTGAGCCATGACAACTTGGTGGCTTCAGGAAAGTCACTTCAACTCTCTGAATGAATGTCCACTTCCCCGGCACACAAAAGGGGCAATAAACGTATTCTACCTCCC
TCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTACCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCTATTAGCTGTGGGGCCCCCTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGATCGAAGCCAGGCATGGGAATTACCACCACCAATATTAGCTTTGGATCCAAAACATAAAAAGCCTCAGAGCAATGGTGGGCTTTTTTTTTTTTTTTTTTTAAATGGGAACTATGACTCCCATGTCCTTAGGTTGTTGTAAGGCTTAAATGAGTTAATACACTTACAACATTAGAACAGCGCCAGCATAAAGTAAAACTCAAAAATATTATTACTGTTAGTATTAAACATTGTTTTAACCCCTGGGGGAAGTTGCATGTCAGCAGCCGATGAAGTAATGTGTTTGCCTTTGCGGAGCCCTGGGGTCCTGGAATTTGCTTCCAGCTCTCTGACCATATCAGTTAGCATGGAGAGAAAGCAGATGGATGCAGGGCCGCCACACCCAGCTCTGTCCCTGAGTTCTGATACCATCTCAGGCTATCTGAACTTGTCCTGATGGAGAAGCCGAAATCTCCGCGATCAACCACTAGAGGGAAACAGAACCAATTAGAATGGCACCGGCCCCACATTCCATTCACACTGAACCGCCCTAGAGAACATTCCATCACAGGGTGTACACGCTGTTGTTCCTTCCTGGGGCTCTCCAAAGGACTTGAAGACTGTGTCACGTGGGTTCGCTGCCCCCTGCGAGGTCCGTGTCTGCTGCTCCTTGGGAAACCATGGCGGGCCGTGTTCTCCTCTCAGCAGATGGCGCTCGGGTCCCTTGGAGGAGAGTGGGGCGCCTGCGGAGCTGAGAGATCCGCGCAGAGCCCCTTTGCCTTCCCTGCCCTGACCTTCTGTTACCAGGCGGTTACTCCACAAGCCCCTCTAGAGACTGATTCTTTTTTCACTTTCTCCAGAACGACCACTAACCCTCATCAGCTGATGTTGAAGCCTGCCTAATGATTGGTAGGAAAAGGAATGTTCCTTGAAAATAGCAGGACTCGGCCTGGTGCGGTCGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTGTACTAAAAAAAAAAAAAAAAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTATGCACCTGTAGTCCCACCTACTTGGGAGGCTGAGGTGGGAGAATCGCTTGATCCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGCACCACTGCCCTCCAGCATGGGTAATGGTTACTATCTCAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAGAAAGGAAATAGGAGGACTCTATAGCTTCCATGCACATGATGACAGTGGCCATGACTTGATCACCACCATGGACTGTTGAGATGGGGGGAAAGACTCAAGGTGTGAGAAACAAGAGGCAACTGTGGTGCCTGGCTTTTGCCCCCGCTGAGCCATGACAACTTGGTGGCTTCAGGAAAGTCACTTCAACTCTCTGAATGAATGTCCACTTCCCCGGCACACAAAAGGGGCAATAAACGTATTCTACCTCCC
Task1_train_1250
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 specified
TCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCTATTAGCTGTGGGGCCCCCTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGATCGAAGCCAGGCATGGGAATTACCACCACCAATATTAGCTTTGGATCCAAAACATAAAAAGCCTCAGAGCAATGGTGGGCTTTTTTTTTTTTTTTTTTTAAATGGGAACTATGACTCCCATGTCCTTAGGTTGTTGTAAGGCTTAAATGAGTTAATACACTTACAACATTAGAACAGCGCCAGCATAAAGTAAAACTCAAAAATATTATTACTGTTAGTATTAAACATTGTTTTAACCCCTGGGGGAAGTTGCATGTCAGCAGCCGATGAAGTAATGTGTTTGCCTTTGCGGAGCCCTGGGGTCCTGGAATTTGCTTCCAGCTCTCTGACCATATCAGTTAGCATGGAGAGAAAGCAGATGGATGCAGGGCCGCCACACCCAGCTCTGTCCCTGAGTTCTGATACCATCTCAGGCTATCTGAACTTGTCCTGATGGAGAAGCCGAAATCTCCGCGATCAACCACTAGAGGGAAACAGAACCAATTAGAATGGCACCGGCCCCACATTCCATTCACACTGAACCGCCCTAGAGAACATTCCATCACAGGGTGTACACGCTGTTGTTCCTTCCTGGGGCTCTCCAAAGGACTTGAAGACTGTGTCACGTGGGTTCGCTGCCCCCTGCGAGGTCCGTGTCTGCTGCTCCTTGGGAAACCATGGCGGGCCGTGTTCTCCTCTCAGCAGATGGCGCTCGGGTCCCTTGGAGGAGAGTGGGGCGCCTGCGGAGCTGAGAGATCCGCGCAGAGCCCCTTTGCCTTCCCTGCCCTGACCTTCTGTTACCAGGCGGTTACTCCACAAGCCCCTCTAGAGACTGATTCTTTTTTCACTTTCTCCAGAACGACCACTAACCCTCATCAGCTGATGTTGAAGCCTGCCTAATGATTGGTAGGAAAAGGAATGTTCCTTGAAAATAGCAGGACTCGGCCTGGTGCGGTCGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTGTACTAAAAAAAAAAAAAAAAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTATGCACCTGTAGTCCCACCTACTTGGGAGGCTGAGGTGGGAGAATCGCTTGATCCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGCACCACTGCCCTCCAGCATGGGTAATGGTTACTATCTCAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAGAAAGGAAATAGGAGGACTCTATAGCTTCCATGCACATGATGACAGTGGCCATGACTTGATCACCACCATGGACTGTTGAGATGGGGGGAAAGACTCAAGGTGTGAGAAACAAGAGGCAACTGTGGTGCCTGGCTTTTGCCCCCGCTGAGCCATGACAACTTGGTGGCTTCAGGAAAGTCACTTCAACTCTCTGAATGAATGTCCACTTCCCCGGCACACAAAAGGGGCAATAAACGTATTCTACCTCCC
TCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTACCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCTATTAGCTGTGGGGCCCCCTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGATCGAAGCCAGGCATGGGAATTACCACCACCAATATTAGCTTTGGATCCAAAACATAAAAAGCCTCAGAGCAATGGTGGGCTTTTTTTTTTTTTTTTTTTAAATGGGAACTATGACTCCCATGTCCTTAGGTTGTTGTAAGGCTTAAATGAGTTAATACACTTACAACATTAGAACAGCGCCAGCATAAAGTAAAACTCAAAAATATTATTACTGTTAGTATTAAACATTGTTTTAACCCCTGGGGGAAGTTGCATGTCAGCAGCCGATGAAGTAATGTGTTTGCCTTTGCGGAGCCCTGGGGTCCTGGAATTTGCTTCCAGCTCTCTGACCATATCAGTTAGCATGGAGAGAAAGCAGATGGATGCAGGGCCGCCACACCCAGCTCTGTCCCTGAGTTCTGATACCATCTCAGGCTATCTGAACTTGTCCTGATGGAGAAGCCGAAATCTCCGCGATCAACCACTAGAGGGAAACAGAACCAATTAGAATGGCACCGGCCCCACATTCCATTCACACTGAACCGCCCTAGAGAACATTCCATCACAGGGTGTACACGCTGTTGTTCCTTCCTGGGGCTCTCCAAAGGACTTGAAGACTGTGTCACGTGGGTTCGCTGCCCCCTGCGAGGTCCGTGTCTGCTGCTCCTTGGGAAACCATGGCGGGCCGTGTTCTCCTCTCAGCAGATGGCGCTCGGGTCCCTTGGAGGAGAGTGGGGCGCCTGCGGAGCTGAGAGATCCGCGCAGAGCCCCTTTGCCTTCCCTGCCCTGACCTTCTGTTACCAGGCGGTTACTCCACAAGCCCCTCTAGAGACTGATTCTTTTTTCACTTTCTCCAGAACGACCACTAACCCTCATCAGCTGATGTTGAAGCCTGCCTAATGATTGGTAGGAAAAGGAATGTTCCTTGAAAATAGCAGGACTCGGCCTGGTGCGGTCGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTGTACTAAAAAAAAAAAAAAAAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTATGCACCTGTAGTCCCACCTACTTGGGAGGCTGAGGTGGGAGAATCGCTTGATCCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGCACCACTGCCCTCCAGCATGGGTAATGGTTACTATCTCAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAGAAAGGAAATAGGAGGACTCTATAGCTTCCATGCACATGATGACAGTGGCCATGACTTGATCACCACCATGGACTGTTGAGATGGGGGGAAAGACTCAAGGTGTGAGAAACAAGAGGCAACTGTGGTGCCTGGCTTTTGCCCCCGCTGAGCCATGACAACTTGGTGGCTTCAGGAAAGTCACTTCAACTCTCTGAATGAATGTCCACTTCCCCGGCACACAAAAGGGGCAATAAACGTATTCTACCTCCC
Task1_train_1251
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.
Pathogenic; not provided
CTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCTATTAGCTGTGGGGCCCCCTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGATCGAAGCCAGGCATGGGAATTACCACCACCAATATTAGCTTTGGATCCAAAACATAAAAAGCCTCAGAGCAATGGTGGGCTTTTTTTTTTTTTTTTTTTAAATGGGAACTATGACTCCCATGTCCTTAGGTTGTTGTAAGGCTTAAATGAGTTAATACACTTACAACATTAGAACAGCGCCAGCATAAAGTAAAACTCAAAAATATTATTACTGTTAGTATTAAACATTGTTTTAACCCCTGGGGGAAGTTGCATGTCAGCAGCCGATGAAGTAATGTGTTTGCCTTTGCGGAGCCCTGGGGTCCTGGAATTTGCTTCCAGCTCTCTGACCATATCAGTTAGCATGGAGAGAAAGCAGATGGATGCAGGGCCGCCACACCCAGCTCTGTCCCTGAGTTCTGATACCATCTCAGGCTATCTGAACTTGTCCTGATGGAGAAGCCGAAATCTCCGCGATCAACCACTAGAGGGAAACAGAACCAATTAGAATGGCACCGGCCCCACATTCCATTCACACTGAACCGCCCTAGAGAACATTCCATCACAGGGTGTACACGCTGTTGTTCCTTCCTGGGGCTCTCCAAAGGACTTGAAGACTGTGTCACGTGGGTTCGCTGCCCCCTGCGAGGTCCGTGTCTGCTGCTCCTTGGGAAACCATGGCGGGCCGTGTTCTCCTCTCAGCAGATGGCGCTCGGGTCCCTTGGAGGAGAGTGGGGCGCCTGCGGAGCTGAGAGATCCGCGCAGAGCCCCTTTGCCTTCCCTGCCCTGACCTTCTGTTACCAGGCGGTTACTCCACAAGCCCCTCTAGAGACTGATTCTTTTTTCACTTTCTCCAGAACGACCACTAACCCTCATCAGCTGATGTTGAAGCCTGCCTAATGATTGGTAGGAAAAGGAATGTTCCTTGAAAATAGCAGGACTCGGCCTGGTGCGGTCGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTGTACTAAAAAAAAAAAAAAAAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTATGCACCTGTAGTCCCACCTACTTGGGAGGCTGAGGTGGGAGAATCGCTTGATCCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGCACCACTGCCCTCCAGCATGGGTAATGGTTACTATCTCAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAGAAAGGAAATAGGAGGACTCTATAGCTTCCATGCACATGATGACAGTGGCCATGACTTGATCACCACCATGGACTGTTGAGATGGGGGGAAAGACTCAAGGTGTGAGAAACAAGAGGCAACTGTGGTGCCTGGCTTTTGCCCCCGCTGAGCCATGACAACTTGGTGGCTTCAGGAAAGTCACTTCAACTCTCTGAATGAATGTCCACTTCCCCGGCACACAAAAGGGGCAATAAACGTATTCTACCTCCCC
CTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCTCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCTATTAGCTGTGGGGCCCCCTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGATCGAAGCCAGGCATGGGAATTACCACCACCAATATTAGCTTTGGATCCAAAACATAAAAAGCCTCAGAGCAATGGTGGGCTTTTTTTTTTTTTTTTTTTAAATGGGAACTATGACTCCCATGTCCTTAGGTTGTTGTAAGGCTTAAATGAGTTAATACACTTACAACATTAGAACAGCGCCAGCATAAAGTAAAACTCAAAAATATTATTACTGTTAGTATTAAACATTGTTTTAACCCCTGGGGGAAGTTGCATGTCAGCAGCCGATGAAGTAATGTGTTTGCCTTTGCGGAGCCCTGGGGTCCTGGAATTTGCTTCCAGCTCTCTGACCATATCAGTTAGCATGGAGAGAAAGCAGATGGATGCAGGGCCGCCACACCCAGCTCTGTCCCTGAGTTCTGATACCATCTCAGGCTATCTGAACTTGTCCTGATGGAGAAGCCGAAATCTCCGCGATCAACCACTAGAGGGAAACAGAACCAATTAGAATGGCACCGGCCCCACATTCCATTCACACTGAACCGCCCTAGAGAACATTCCATCACAGGGTGTACACGCTGTTGTTCCTTCCTGGGGCTCTCCAAAGGACTTGAAGACTGTGTCACGTGGGTTCGCTGCCCCCTGCGAGGTCCGTGTCTGCTGCTCCTTGGGAAACCATGGCGGGCCGTGTTCTCCTCTCAGCAGATGGCGCTCGGGTCCCTTGGAGGAGAGTGGGGCGCCTGCGGAGCTGAGAGATCCGCGCAGAGCCCCTTTGCCTTCCCTGCCCTGACCTTCTGTTACCAGGCGGTTACTCCACAAGCCCCTCTAGAGACTGATTCTTTTTTCACTTTCTCCAGAACGACCACTAACCCTCATCAGCTGATGTTGAAGCCTGCCTAATGATTGGTAGGAAAAGGAATGTTCCTTGAAAATAGCAGGACTCGGCCTGGTGCGGTCGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTGTACTAAAAAAAAAAAAAAAAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTATGCACCTGTAGTCCCACCTACTTGGGAGGCTGAGGTGGGAGAATCGCTTGATCCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGCACCACTGCCCTCCAGCATGGGTAATGGTTACTATCTCAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAGAAAGGAAATAGGAGGACTCTATAGCTTCCATGCACATGATGACAGTGGCCATGACTTGATCACCACCATGGACTGTTGAGATGGGGGGAAAGACTCAAGGTGTGAGAAACAAGAGGCAACTGTGGTGCCTGGCTTTTGCCCCCGCTGAGCCATGACAACTTGGTGGCTTCAGGAAAGTCACTTCAACTCTCTGAATGAATGTCCACTTCCCCGGCACACAAAAGGGGCAATAAACGTATTCTACCTCCCC
Task1_train_1252
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.
Pathogenic; Age related macular degeneration 2
GGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCTATTAGCTGTGGGGCCCCCTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGATCGAAGCCAGGCATGGGAATTACCACCACCAATATTAGCTTTGGATCCAAAACATAAAAAGCCTCAGAGCAATGGTGGGCTTTTTTTTTTTTTTTTTTTAAATGGGAACTATGACTCCCATGTCCTTAGGTTGTTGTAAGGCTTAAATGAGTTAATACACTTACAACATTAGAACAGCGCCAGCATAAAGTAAAACTCAAAAATATTATTACTGTTAGTATTAAACATTGTTTTAACCCCTGGGGGAAGTTGCATGTCAGCAGCCGATGAAGTAATGTGTTTGCCTTTGCGGAGCCCTGGGGTCCTGGAATTTGCTTCCAGCTCTCTGACCATATCAGTTAGCATGGAGAGAAAGCAGATGGATGCAGGGCCGCCACACCCAGCTCTGTCCCTGAGTTCTGATACCATCTCAGGCTATCTGAACTTGTCCTGATGGAGAAGCCGAAATCTCCGCGATCAACCACTAGAGGGAAACAGAACCAATTAGAATGGCACCGGCCCCACATTCCATTCACACTGAACCGCCCTAGAGAACATTCCATCACAGGGTGTACACGCTGTTGTTCCTTCCTGGGGCTCTCCAAAGGACTTGAAGACTGTGTCACGTGGGTTCGCTGCCCCCTGCGAGGTCCGTGTCTGCTGCTCCTTGGGAAACCATGGCGGGCCGTGTTCTCCTCTCAGCAGATGGCGCTCGGGTCCCTTGGAGGAGAGTGGGGCGCCTGCGGAGCTGAGAGATCCGCGCAGAGCCCCTTTGCCTTCCCTGCCCTGACCTTCTGTTACCAGGCGGTTACTCCACAAGCCCCTCTAGAGACTGATTCTTTTTTCACTTTCTCCAGAACGACCACTAACCCTCATCAGCTGATGTTGAAGCCTGCCTAATGATTGGTAGGAAAAGGAATGTTCCTTGAAAATAGCAGGACTCGGCCTGGTGCGGTCGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTGTACTAAAAAAAAAAAAAAAAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTATGCACCTGTAGTCCCACCTACTTGGGAGGCTGAGGTGGGAGAATCGCTTGATCCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGCACCACTGCCCTCCAGCATGGGTAATGGTTACTATCTCAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAGAAAGGAAATAGGAGGACTCTATAGCTTCCATGCACATGATGACAGTGGCCATGACTTGATCACCACCATGGACTGTTGAGATGGGGGGAAAGACTCAAGGTGTGAGAAACAAGAGGCAACTGTGGTGCCTGGCTTTTGCCCCCGCTGAGCCATGACAACTTGGTGGCTTCAGGAAAGTCACTTCAACTCTCTGAATGAATGTCCACTTCCCCGGCACACAAAAGGGGCAATAAACGTATTCTACCTCCCCATCAAGAGAATACATATTAGTGATCTTTGAATACTGCAGAA
GGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCATCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCTATTAGCTGTGGGGCCCCCTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGATCGAAGCCAGGCATGGGAATTACCACCACCAATATTAGCTTTGGATCCAAAACATAAAAAGCCTCAGAGCAATGGTGGGCTTTTTTTTTTTTTTTTTTTAAATGGGAACTATGACTCCCATGTCCTTAGGTTGTTGTAAGGCTTAAATGAGTTAATACACTTACAACATTAGAACAGCGCCAGCATAAAGTAAAACTCAAAAATATTATTACTGTTAGTATTAAACATTGTTTTAACCCCTGGGGGAAGTTGCATGTCAGCAGCCGATGAAGTAATGTGTTTGCCTTTGCGGAGCCCTGGGGTCCTGGAATTTGCTTCCAGCTCTCTGACCATATCAGTTAGCATGGAGAGAAAGCAGATGGATGCAGGGCCGCCACACCCAGCTCTGTCCCTGAGTTCTGATACCATCTCAGGCTATCTGAACTTGTCCTGATGGAGAAGCCGAAATCTCCGCGATCAACCACTAGAGGGAAACAGAACCAATTAGAATGGCACCGGCCCCACATTCCATTCACACTGAACCGCCCTAGAGAACATTCCATCACAGGGTGTACACGCTGTTGTTCCTTCCTGGGGCTCTCCAAAGGACTTGAAGACTGTGTCACGTGGGTTCGCTGCCCCCTGCGAGGTCCGTGTCTGCTGCTCCTTGGGAAACCATGGCGGGCCGTGTTCTCCTCTCAGCAGATGGCGCTCGGGTCCCTTGGAGGAGAGTGGGGCGCCTGCGGAGCTGAGAGATCCGCGCAGAGCCCCTTTGCCTTCCCTGCCCTGACCTTCTGTTACCAGGCGGTTACTCCACAAGCCCCTCTAGAGACTGATTCTTTTTTCACTTTCTCCAGAACGACCACTAACCCTCATCAGCTGATGTTGAAGCCTGCCTAATGATTGGTAGGAAAAGGAATGTTCCTTGAAAATAGCAGGACTCGGCCTGGTGCGGTCGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTGTACTAAAAAAAAAAAAAAAAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTATGCACCTGTAGTCCCACCTACTTGGGAGGCTGAGGTGGGAGAATCGCTTGATCCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGCACCACTGCCCTCCAGCATGGGTAATGGTTACTATCTCAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAGAAAGGAAATAGGAGGACTCTATAGCTTCCATGCACATGATGACAGTGGCCATGACTTGATCACCACCATGGACTGTTGAGATGGGGGGAAAGACTCAAGGTGTGAGAAACAAGAGGCAACTGTGGTGCCTGGCTTTTGCCCCCGCTGAGCCATGACAACTTGGTGGCTTCAGGAAAGTCACTTCAACTCTCTGAATGAATGTCCACTTCCCCGGCACACAAAAGGGGCAATAAACGTATTCTACCTCCCCATCAAGAGAATACATATTAGTGATCTTTGAATACTGCAGAA
Task1_train_1253
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; Severe early-childhood-onset retinal dystrophy
GGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCTATTAGCTGTGGGGCCCCCTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGATCGAAGCCAGGCATGGGAATTACCACCACCAATATTAGCTTTGGATCCAAAACATAAAAAGCCTCAGAGCAATGGTGGGCTTTTTTTTTTTTTTTTTTTAAATGGGAACTATGACTCCCATGTCCTTAGGTTGTTGTAAGGCTTAAATGAGTTAATACACTTACAACATTAGAACAGCGCCAGCATAAAGTAAAACTCAAAAATATTATTACTGTTAGTATTAAACATTGTTTTAACCCCTGGGGGAAGTTGCATGTCAGCAGCCGATGAAGTAATGTGTTTGCCTTTGCGGAGCCCTGGGGTCCTGGAATTTGCTTCCAGCTCTCTGACCATATCAGTTAGCATGGAGAGAAAGCAGATGGATGCAGGGCCGCCACACCCAGCTCTGTCCCTGAGTTCTGATACCATCTCAGGCTATCTGAACTTGTCCTGATGGAGAAGCCGAAATCTCCGCGATCAACCACTAGAGGGAAACAGAACCAATTAGAATGGCACCGGCCCCACATTCCATTCACACTGAACCGCCCTAGAGAACATTCCATCACAGGGTGTACACGCTGTTGTTCCTTCCTGGGGCTCTCCAAAGGACTTGAAGACTGTGTCACGTGGGTTCGCTGCCCCCTGCGAGGTCCGTGTCTGCTGCTCCTTGGGAAACCATGGCGGGCCGTGTTCTCCTCTCAGCAGATGGCGCTCGGGTCCCTTGGAGGAGAGTGGGGCGCCTGCGGAGCTGAGAGATCCGCGCAGAGCCCCTTTGCCTTCCCTGCCCTGACCTTCTGTTACCAGGCGGTTACTCCACAAGCCCCTCTAGAGACTGATTCTTTTTTCACTTTCTCCAGAACGACCACTAACCCTCATCAGCTGATGTTGAAGCCTGCCTAATGATTGGTAGGAAAAGGAATGTTCCTTGAAAATAGCAGGACTCGGCCTGGTGCGGTCGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTGTACTAAAAAAAAAAAAAAAAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTATGCACCTGTAGTCCCACCTACTTGGGAGGCTGAGGTGGGAGAATCGCTTGATCCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGCACCACTGCCCTCCAGCATGGGTAATGGTTACTATCTCAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAGAAAGGAAATAGGAGGACTCTATAGCTTCCATGCACATGATGACAGTGGCCATGACTTGATCACCACCATGGACTGTTGAGATGGGGGGAAAGACTCAAGGTGTGAGAAACAAGAGGCAACTGTGGTGCCTGGCTTTTGCCCCCGCTGAGCCATGACAACTTGGTGGCTTCAGGAAAGTCACTTCAACTCTCTGAATGAATGTCCACTTCCCCGGCACACAAAAGGGGCAATAAACGTATTCTACCTCCCCATCAAGAGAATACATATTAGTGATCTTTGAATACTGCAGAA
GGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCATCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCTATTAGCTGTGGGGCCCCCTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGATCGAAGCCAGGCATGGGAATTACCACCACCAATATTAGCTTTGGATCCAAAACATAAAAAGCCTCAGAGCAATGGTGGGCTTTTTTTTTTTTTTTTTTTAAATGGGAACTATGACTCCCATGTCCTTAGGTTGTTGTAAGGCTTAAATGAGTTAATACACTTACAACATTAGAACAGCGCCAGCATAAAGTAAAACTCAAAAATATTATTACTGTTAGTATTAAACATTGTTTTAACCCCTGGGGGAAGTTGCATGTCAGCAGCCGATGAAGTAATGTGTTTGCCTTTGCGGAGCCCTGGGGTCCTGGAATTTGCTTCCAGCTCTCTGACCATATCAGTTAGCATGGAGAGAAAGCAGATGGATGCAGGGCCGCCACACCCAGCTCTGTCCCTGAGTTCTGATACCATCTCAGGCTATCTGAACTTGTCCTGATGGAGAAGCCGAAATCTCCGCGATCAACCACTAGAGGGAAACAGAACCAATTAGAATGGCACCGGCCCCACATTCCATTCACACTGAACCGCCCTAGAGAACATTCCATCACAGGGTGTACACGCTGTTGTTCCTTCCTGGGGCTCTCCAAAGGACTTGAAGACTGTGTCACGTGGGTTCGCTGCCCCCTGCGAGGTCCGTGTCTGCTGCTCCTTGGGAAACCATGGCGGGCCGTGTTCTCCTCTCAGCAGATGGCGCTCGGGTCCCTTGGAGGAGAGTGGGGCGCCTGCGGAGCTGAGAGATCCGCGCAGAGCCCCTTTGCCTTCCCTGCCCTGACCTTCTGTTACCAGGCGGTTACTCCACAAGCCCCTCTAGAGACTGATTCTTTTTTCACTTTCTCCAGAACGACCACTAACCCTCATCAGCTGATGTTGAAGCCTGCCTAATGATTGGTAGGAAAAGGAATGTTCCTTGAAAATAGCAGGACTCGGCCTGGTGCGGTCGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTGTACTAAAAAAAAAAAAAAAAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTATGCACCTGTAGTCCCACCTACTTGGGAGGCTGAGGTGGGAGAATCGCTTGATCCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGCACCACTGCCCTCCAGCATGGGTAATGGTTACTATCTCAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAGAAAGGAAATAGGAGGACTCTATAGCTTCCATGCACATGATGACAGTGGCCATGACTTGATCACCACCATGGACTGTTGAGATGGGGGGAAAGACTCAAGGTGTGAGAAACAAGAGGCAACTGTGGTGCCTGGCTTTTGCCCCCGCTGAGCCATGACAACTTGGTGGCTTCAGGAAAGTCACTTCAACTCTCTGAATGAATGTCCACTTCCCCGGCACACAAAAGGGGCAATAAACGTATTCTACCTCCCCATCAAGAGAATACATATTAGTGATCTTTGAATACTGCAGAA
Task1_train_1254
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?
Pathogenic; Retinitis pigmentosa 19
GGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCTATTAGCTGTGGGGCCCCCTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGATCGAAGCCAGGCATGGGAATTACCACCACCAATATTAGCTTTGGATCCAAAACATAAAAAGCCTCAGAGCAATGGTGGGCTTTTTTTTTTTTTTTTTTTAAATGGGAACTATGACTCCCATGTCCTTAGGTTGTTGTAAGGCTTAAATGAGTTAATACACTTACAACATTAGAACAGCGCCAGCATAAAGTAAAACTCAAAAATATTATTACTGTTAGTATTAAACATTGTTTTAACCCCTGGGGGAAGTTGCATGTCAGCAGCCGATGAAGTAATGTGTTTGCCTTTGCGGAGCCCTGGGGTCCTGGAATTTGCTTCCAGCTCTCTGACCATATCAGTTAGCATGGAGAGAAAGCAGATGGATGCAGGGCCGCCACACCCAGCTCTGTCCCTGAGTTCTGATACCATCTCAGGCTATCTGAACTTGTCCTGATGGAGAAGCCGAAATCTCCGCGATCAACCACTAGAGGGAAACAGAACCAATTAGAATGGCACCGGCCCCACATTCCATTCACACTGAACCGCCCTAGAGAACATTCCATCACAGGGTGTACACGCTGTTGTTCCTTCCTGGGGCTCTCCAAAGGACTTGAAGACTGTGTCACGTGGGTTCGCTGCCCCCTGCGAGGTCCGTGTCTGCTGCTCCTTGGGAAACCATGGCGGGCCGTGTTCTCCTCTCAGCAGATGGCGCTCGGGTCCCTTGGAGGAGAGTGGGGCGCCTGCGGAGCTGAGAGATCCGCGCAGAGCCCCTTTGCCTTCCCTGCCCTGACCTTCTGTTACCAGGCGGTTACTCCACAAGCCCCTCTAGAGACTGATTCTTTTTTCACTTTCTCCAGAACGACCACTAACCCTCATCAGCTGATGTTGAAGCCTGCCTAATGATTGGTAGGAAAAGGAATGTTCCTTGAAAATAGCAGGACTCGGCCTGGTGCGGTCGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTGTACTAAAAAAAAAAAAAAAAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTATGCACCTGTAGTCCCACCTACTTGGGAGGCTGAGGTGGGAGAATCGCTTGATCCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGCACCACTGCCCTCCAGCATGGGTAATGGTTACTATCTCAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAGAAAGGAAATAGGAGGACTCTATAGCTTCCATGCACATGATGACAGTGGCCATGACTTGATCACCACCATGGACTGTTGAGATGGGGGGAAAGACTCAAGGTGTGAGAAACAAGAGGCAACTGTGGTGCCTGGCTTTTGCCCCCGCTGAGCCATGACAACTTGGTGGCTTCAGGAAAGTCACTTCAACTCTCTGAATGAATGTCCACTTCCCCGGCACACAAAAGGGGCAATAAACGTATTCTACCTCCCCATCAAGAGAATACATATTAGTGATCTTTGAATACTGCAGAA
GGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCATCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCTATTAGCTGTGGGGCCCCCTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGATCGAAGCCAGGCATGGGAATTACCACCACCAATATTAGCTTTGGATCCAAAACATAAAAAGCCTCAGAGCAATGGTGGGCTTTTTTTTTTTTTTTTTTTAAATGGGAACTATGACTCCCATGTCCTTAGGTTGTTGTAAGGCTTAAATGAGTTAATACACTTACAACATTAGAACAGCGCCAGCATAAAGTAAAACTCAAAAATATTATTACTGTTAGTATTAAACATTGTTTTAACCCCTGGGGGAAGTTGCATGTCAGCAGCCGATGAAGTAATGTGTTTGCCTTTGCGGAGCCCTGGGGTCCTGGAATTTGCTTCCAGCTCTCTGACCATATCAGTTAGCATGGAGAGAAAGCAGATGGATGCAGGGCCGCCACACCCAGCTCTGTCCCTGAGTTCTGATACCATCTCAGGCTATCTGAACTTGTCCTGATGGAGAAGCCGAAATCTCCGCGATCAACCACTAGAGGGAAACAGAACCAATTAGAATGGCACCGGCCCCACATTCCATTCACACTGAACCGCCCTAGAGAACATTCCATCACAGGGTGTACACGCTGTTGTTCCTTCCTGGGGCTCTCCAAAGGACTTGAAGACTGTGTCACGTGGGTTCGCTGCCCCCTGCGAGGTCCGTGTCTGCTGCTCCTTGGGAAACCATGGCGGGCCGTGTTCTCCTCTCAGCAGATGGCGCTCGGGTCCCTTGGAGGAGAGTGGGGCGCCTGCGGAGCTGAGAGATCCGCGCAGAGCCCCTTTGCCTTCCCTGCCCTGACCTTCTGTTACCAGGCGGTTACTCCACAAGCCCCTCTAGAGACTGATTCTTTTTTCACTTTCTCCAGAACGACCACTAACCCTCATCAGCTGATGTTGAAGCCTGCCTAATGATTGGTAGGAAAAGGAATGTTCCTTGAAAATAGCAGGACTCGGCCTGGTGCGGTCGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTGTACTAAAAAAAAAAAAAAAAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTATGCACCTGTAGTCCCACCTACTTGGGAGGCTGAGGTGGGAGAATCGCTTGATCCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGCACCACTGCCCTCCAGCATGGGTAATGGTTACTATCTCAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAGAAAGGAAATAGGAGGACTCTATAGCTTCCATGCACATGATGACAGTGGCCATGACTTGATCACCACCATGGACTGTTGAGATGGGGGGAAAGACTCAAGGTGTGAGAAACAAGAGGCAACTGTGGTGCCTGGCTTTTGCCCCCGCTGAGCCATGACAACTTGGTGGCTTCAGGAAAGTCACTTCAACTCTCTGAATGAATGTCCACTTCCCCGGCACACAAAAGGGGCAATAAACGTATTCTACCTCCCCATCAAGAGAATACATATTAGTGATCTTTGAATACTGCAGAA
Task1_train_1255
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.
Pathogenic; Cone-rod dystrophy 3
GGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCTATTAGCTGTGGGGCCCCCTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGATCGAAGCCAGGCATGGGAATTACCACCACCAATATTAGCTTTGGATCCAAAACATAAAAAGCCTCAGAGCAATGGTGGGCTTTTTTTTTTTTTTTTTTTAAATGGGAACTATGACTCCCATGTCCTTAGGTTGTTGTAAGGCTTAAATGAGTTAATACACTTACAACATTAGAACAGCGCCAGCATAAAGTAAAACTCAAAAATATTATTACTGTTAGTATTAAACATTGTTTTAACCCCTGGGGGAAGTTGCATGTCAGCAGCCGATGAAGTAATGTGTTTGCCTTTGCGGAGCCCTGGGGTCCTGGAATTTGCTTCCAGCTCTCTGACCATATCAGTTAGCATGGAGAGAAAGCAGATGGATGCAGGGCCGCCACACCCAGCTCTGTCCCTGAGTTCTGATACCATCTCAGGCTATCTGAACTTGTCCTGATGGAGAAGCCGAAATCTCCGCGATCAACCACTAGAGGGAAACAGAACCAATTAGAATGGCACCGGCCCCACATTCCATTCACACTGAACCGCCCTAGAGAACATTCCATCACAGGGTGTACACGCTGTTGTTCCTTCCTGGGGCTCTCCAAAGGACTTGAAGACTGTGTCACGTGGGTTCGCTGCCCCCTGCGAGGTCCGTGTCTGCTGCTCCTTGGGAAACCATGGCGGGCCGTGTTCTCCTCTCAGCAGATGGCGCTCGGGTCCCTTGGAGGAGAGTGGGGCGCCTGCGGAGCTGAGAGATCCGCGCAGAGCCCCTTTGCCTTCCCTGCCCTGACCTTCTGTTACCAGGCGGTTACTCCACAAGCCCCTCTAGAGACTGATTCTTTTTTCACTTTCTCCAGAACGACCACTAACCCTCATCAGCTGATGTTGAAGCCTGCCTAATGATTGGTAGGAAAAGGAATGTTCCTTGAAAATAGCAGGACTCGGCCTGGTGCGGTCGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTGTACTAAAAAAAAAAAAAAAAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTATGCACCTGTAGTCCCACCTACTTGGGAGGCTGAGGTGGGAGAATCGCTTGATCCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGCACCACTGCCCTCCAGCATGGGTAATGGTTACTATCTCAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAGAAAGGAAATAGGAGGACTCTATAGCTTCCATGCACATGATGACAGTGGCCATGACTTGATCACCACCATGGACTGTTGAGATGGGGGGAAAGACTCAAGGTGTGAGAAACAAGAGGCAACTGTGGTGCCTGGCTTTTGCCCCCGCTGAGCCATGACAACTTGGTGGCTTCAGGAAAGTCACTTCAACTCTCTGAATGAATGTCCACTTCCCCGGCACACAAAAGGGGCAATAAACGTATTCTACCTCCCCATCAAGAGAATACATATTAGTGATCTTTGAATACTGCAGAA
GGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCATCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCTATTAGCTGTGGGGCCCCCTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGATCGAAGCCAGGCATGGGAATTACCACCACCAATATTAGCTTTGGATCCAAAACATAAAAAGCCTCAGAGCAATGGTGGGCTTTTTTTTTTTTTTTTTTTAAATGGGAACTATGACTCCCATGTCCTTAGGTTGTTGTAAGGCTTAAATGAGTTAATACACTTACAACATTAGAACAGCGCCAGCATAAAGTAAAACTCAAAAATATTATTACTGTTAGTATTAAACATTGTTTTAACCCCTGGGGGAAGTTGCATGTCAGCAGCCGATGAAGTAATGTGTTTGCCTTTGCGGAGCCCTGGGGTCCTGGAATTTGCTTCCAGCTCTCTGACCATATCAGTTAGCATGGAGAGAAAGCAGATGGATGCAGGGCCGCCACACCCAGCTCTGTCCCTGAGTTCTGATACCATCTCAGGCTATCTGAACTTGTCCTGATGGAGAAGCCGAAATCTCCGCGATCAACCACTAGAGGGAAACAGAACCAATTAGAATGGCACCGGCCCCACATTCCATTCACACTGAACCGCCCTAGAGAACATTCCATCACAGGGTGTACACGCTGTTGTTCCTTCCTGGGGCTCTCCAAAGGACTTGAAGACTGTGTCACGTGGGTTCGCTGCCCCCTGCGAGGTCCGTGTCTGCTGCTCCTTGGGAAACCATGGCGGGCCGTGTTCTCCTCTCAGCAGATGGCGCTCGGGTCCCTTGGAGGAGAGTGGGGCGCCTGCGGAGCTGAGAGATCCGCGCAGAGCCCCTTTGCCTTCCCTGCCCTGACCTTCTGTTACCAGGCGGTTACTCCACAAGCCCCTCTAGAGACTGATTCTTTTTTCACTTTCTCCAGAACGACCACTAACCCTCATCAGCTGATGTTGAAGCCTGCCTAATGATTGGTAGGAAAAGGAATGTTCCTTGAAAATAGCAGGACTCGGCCTGGTGCGGTCGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTGTACTAAAAAAAAAAAAAAAAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTATGCACCTGTAGTCCCACCTACTTGGGAGGCTGAGGTGGGAGAATCGCTTGATCCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGCACCACTGCCCTCCAGCATGGGTAATGGTTACTATCTCAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAGAAAGGAAATAGGAGGACTCTATAGCTTCCATGCACATGATGACAGTGGCCATGACTTGATCACCACCATGGACTGTTGAGATGGGGGGAAAGACTCAAGGTGTGAGAAACAAGAGGCAACTGTGGTGCCTGGCTTTTGCCCCCGCTGAGCCATGACAACTTGGTGGCTTCAGGAAAGTCACTTCAACTCTCTGAATGAATGTCCACTTCCCCGGCACACAAAAGGGGCAATAAACGTATTCTACCTCCCCATCAAGAGAATACATATTAGTGATCTTTGAATACTGCAGAA
Task1_train_1256
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.
Pathogenic; ABCA4-related retinopathy
GGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCGTCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCTATTAGCTGTGGGGCCCCCTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGATCGAAGCCAGGCATGGGAATTACCACCACCAATATTAGCTTTGGATCCAAAACATAAAAAGCCTCAGAGCAATGGTGGGCTTTTTTTTTTTTTTTTTTTAAATGGGAACTATGACTCCCATGTCCTTAGGTTGTTGTAAGGCTTAAATGAGTTAATACACTTACAACATTAGAACAGCGCCAGCATAAAGTAAAACTCAAAAATATTATTACTGTTAGTATTAAACATTGTTTTAACCCCTGGGGGAAGTTGCATGTCAGCAGCCGATGAAGTAATGTGTTTGCCTTTGCGGAGCCCTGGGGTCCTGGAATTTGCTTCCAGCTCTCTGACCATATCAGTTAGCATGGAGAGAAAGCAGATGGATGCAGGGCCGCCACACCCAGCTCTGTCCCTGAGTTCTGATACCATCTCAGGCTATCTGAACTTGTCCTGATGGAGAAGCCGAAATCTCCGCGATCAACCACTAGAGGGAAACAGAACCAATTAGAATGGCACCGGCCCCACATTCCATTCACACTGAACCGCCCTAGAGAACATTCCATCACAGGGTGTACACGCTGTTGTTCCTTCCTGGGGCTCTCCAAAGGACTTGAAGACTGTGTCACGTGGGTTCGCTGCCCCCTGCGAGGTCCGTGTCTGCTGCTCCTTGGGAAACCATGGCGGGCCGTGTTCTCCTCTCAGCAGATGGCGCTCGGGTCCCTTGGAGGAGAGTGGGGCGCCTGCGGAGCTGAGAGATCCGCGCAGAGCCCCTTTGCCTTCCCTGCCCTGACCTTCTGTTACCAGGCGGTTACTCCACAAGCCCCTCTAGAGACTGATTCTTTTTTCACTTTCTCCAGAACGACCACTAACCCTCATCAGCTGATGTTGAAGCCTGCCTAATGATTGGTAGGAAAAGGAATGTTCCTTGAAAATAGCAGGACTCGGCCTGGTGCGGTCGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTGTACTAAAAAAAAAAAAAAAAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTATGCACCTGTAGTCCCACCTACTTGGGAGGCTGAGGTGGGAGAATCGCTTGATCCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGCACCACTGCCCTCCAGCATGGGTAATGGTTACTATCTCAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAGAAAGGAAATAGGAGGACTCTATAGCTTCCATGCACATGATGACAGTGGCCATGACTTGATCACCACCATGGACTGTTGAGATGGGGGGAAAGACTCAAGGTGTGAGAAACAAGAGGCAACTGTGGTGCCTGGCTTTTGCCCCCGCTGAGCCATGACAACTTGGTGGCTTCAGGAAAGTCACTTCAACTCTCTGAATGAATGTCCACTTCCCCGGCACACAAAAGGGGCAATAAACGTATTCTACCTCCCCATCAAGAGAATACATATTAGTGATCTTTGAATACTGCAGAA
GGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTTGGTGCTGCCTCTTAGATGTTTATAGCGTTCAAAGCCCTAATACTGTTCAGGCTTTGTAAATGCAGAAAGGGCAACCCTCACCTCCTCGGATCAGACCCTTTGAAGACTGTTCAAGCACATCAATCTCAGGACAAATAAAACCCAGGCTGCTGTGAGACAGTGCTCTGCAGGGAAAATGATCTGGGGGCTGCTCTTAGATTTTTGGTGTAACTTCACAGAGGTGTTCCCACCCTTAGAAGCTCTCCTGCTCCAAGCCTCCCCTGCCTCCTGGGTGCACTGGGGAGCCATGGATTTGCCATCTGTGGCCCTGTCTCCATCCAGCTCTGAGCACCTGATAGGTCCTGAGCCTCTTCATTCCGCTTGTGGTGGAGGCCTGTGTCCTCCAACATGGCTTCCATCTCCAGCTGGGCCTCCTCCTGGGACTTTCCTTTCAGCTGGGCATAGAACAGCATGTGCTCAGCCACCGTGAGGCTAGGAGGATGGGACAACGAGAAAAGCAGTGGCTTAGCACTTCCACTTCCAGCAGCTGATCTTACAGAAATAATTGAGGACAAGTATTCTTGATTTGGCAATCAAGATGCTCACTGTGGTGGTGTTTATGATACAATACAAAAATAGCAGACCCTGCTTAAATATCTAATAAGAGGATGGCTTACATAGTTCATGCATACAATGGAATAATCTGTAAACATTAAATATTATTTTATAGAAGAATATGTAATGACATGAAAGATGTTCCTGATATCTTATGTTTAAAAAAGCAATCCTTTTTTTTGAAAAAAAAGTCAGGTTATAAAATTGTATGCATAGTTTTACTATTCTTTATCATTTTGAAGTATATGTGTTTATCTATCTATACATGTATAGGAGAAAGTTCTAAAAAATTATATACCAATGTTATAACTCAGCGGTTATCTCTGAGTAGTGAAATTACAGGTGACTTTTATTTTCAATTTTTTGTTTACCTATATTTACTTCCTCCCTCCTTCCCTTTCCTTCCTCCTTCCCCTTCCCTTTTCCTCCCTCCTGTTCCCTTCCTTCTCCCCTCCCTCCCTCCCTCGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTTTTTTTCTTTCACAATGACTATGCGTAGCTTCTTAGATAAGAAATAAAAGATATCTTATTGGGGAAAAAAAGTAACTGAAAAGCCCCCTGAAAAGTTTGCCTTTCAGGCCGTGGCTTCAACAGGAAAAAGGAACAATGGTTCTCCTGTCTTTGGTCCCAGAGAGGAAGTACTTCAGGGCTGCACAAGGGGCTCGGGGATCGATCAGCTGCTCTGTCAGAGCGAAGGCAGCCTCACCCTTCTGAGGGAGGAGCCCTCAGCTCTGAGCAGCAGAGGCAGAGTCCCATATTCTCAGGGACAATTCTCACTGCAAGTAGGACAAAGGACTTTAAACATAGGGGAAACCAAATAAGAGTCTGTATCTCTGCCTGTGCCCAGGCCTGGCACCCCTGAGCTGGGCTCTAGAGAAGTGTGCTGGGGGCAGAGGTGAGGAGAGGGGATGGGGCGGTCTCAGTTCCTGTGTCGCTTACTGGTGGAACAGGATGTTGTGCTGTGGACACATGCCAAGGCTCTGCCGGACTGCATCCAGGCTGGTTTCAATGTCCCTTCCCCCAACGAGCACAGTCCCAGAGGTTGGTGGCAACAGACCCATCAGGATGGACCTGCAGAACACAGGCGTCAGTGGCAGAAGAGATGGCCTTTAGCAACATGCCTTAGGAGGGCCACCCCCACACCAGGTTCAGTGAGAACTCTCACAGATTCCTGCCTGGGGCTGTCAGTCAAACTCAAACCCCTATTAGCTGTGGGGCCCCCTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGATCGAAGCCAGGCATGGGAATTACCACCACCAATATTAGCTTTGGATCCAAAACATAAAAAGCCTCAGAGCAATGGTGGGCTTTTTTTTTTTTTTTTTTTAAATGGGAACTATGACTCCCATGTCCTTAGGTTGTTGTAAGGCTTAAATGAGTTAATACACTTACAACATTAGAACAGCGCCAGCATAAAGTAAAACTCAAAAATATTATTACTGTTAGTATTAAACATTGTTTTAACCCCTGGGGGAAGTTGCATGTCAGCAGCCGATGAAGTAATGTGTTTGCCTTTGCGGAGCCCTGGGGTCCTGGAATTTGCTTCCAGCTCTCTGACCATATCAGTTAGCATGGAGAGAAAGCAGATGGATGCAGGGCCGCCACACCCAGCTCTGTCCCTGAGTTCTGATACCATCTCAGGCTATCTGAACTTGTCCTGATGGAGAAGCCGAAATCTCCGCGATCAACCACTAGAGGGAAACAGAACCAATTAGAATGGCACCGGCCCCACATTCCATTCACACTGAACCGCCCTAGAGAACATTCCATCACAGGGTGTACACGCTGTTGTTCCTTCCTGGGGCTCTCCAAAGGACTTGAAGACTGTGTCACGTGGGTTCGCTGCCCCCTGCGAGGTCCGTGTCTGCTGCTCCTTGGGAAACCATGGCGGGCCGTGTTCTCCTCTCAGCAGATGGCGCTCGGGTCCCTTGGAGGAGAGTGGGGCGCCTGCGGAGCTGAGAGATCCGCGCAGAGCCCCTTTGCCTTCCCTGCCCTGACCTTCTGTTACCAGGCGGTTACTCCACAAGCCCCTCTAGAGACTGATTCTTTTTTCACTTTCTCCAGAACGACCACTAACCCTCATCAGCTGATGTTGAAGCCTGCCTAATGATTGGTAGGAAAAGGAATGTTCCTTGAAAATAGCAGGACTCGGCCTGGTGCGGTCGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTGTACTAAAAAAAAAAAAAAAAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTATGCACCTGTAGTCCCACCTACTTGGGAGGCTGAGGTGGGAGAATCGCTTGATCCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGCACCACTGCCCTCCAGCATGGGTAATGGTTACTATCTCAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAGAAAGGAAATAGGAGGACTCTATAGCTTCCATGCACATGATGACAGTGGCCATGACTTGATCACCACCATGGACTGTTGAGATGGGGGGAAAGACTCAAGGTGTGAGAAACAAGAGGCAACTGTGGTGCCTGGCTTTTGCCCCCGCTGAGCCATGACAACTTGGTGGCTTCAGGAAAGTCACTTCAACTCTCTGAATGAATGTCCACTTCCCCGGCACACAAAAGGGGCAATAAACGTATTCTACCTCCCCATCAAGAGAATACATATTAGTGATCTTTGAATACTGCAGAA
Task1_train_1257
Chromosome 1 houses a mutation in gene ABCA4 (ATP binding cassette subfamily A member 4). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; not provided
TGTGGGGCCCCCTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGATCGAAGCCAGGCATGGGAATTACCACCACCAATATTAGCTTTGGATCCAAAACATAAAAAGCCTCAGAGCAATGGTGGGCTTTTTTTTTTTTTTTTTTTAAATGGGAACTATGACTCCCATGTCCTTAGGTTGTTGTAAGGCTTAAATGAGTTAATACACTTACAACATTAGAACAGCGCCAGCATAAAGTAAAACTCAAAAATATTATTACTGTTAGTATTAAACATTGTTTTAACCCCTGGGGGAAGTTGCATGTCAGCAGCCGATGAAGTAATGTGTTTGCCTTTGCGGAGCCCTGGGGTCCTGGAATTTGCTTCCAGCTCTCTGACCATATCAGTTAGCATGGAGAGAAAGCAGATGGATGCAGGGCCGCCACACCCAGCTCTGTCCCTGAGTTCTGATACCATCTCAGGCTATCTGAACTTGTCCTGATGGAGAAGCCGAAATCTCCGCGATCAACCACTAGAGGGAAACAGAACCAATTAGAATGGCACCGGCCCCACATTCCATTCACACTGAACCGCCCTAGAGAACATTCCATCACAGGGTGTACACGCTGTTGTTCCTTCCTGGGGCTCTCCAAAGGACTTGAAGACTGTGTCACGTGGGTTCGCTGCCCCCTGCGAGGTCCGTGTCTGCTGCTCCTTGGGAAACCATGGCGGGCCGTGTTCTCCTCTCAGCAGATGGCGCTCGGGTCCCTTGGAGGAGAGTGGGGCGCCTGCGGAGCTGAGAGATCCGCGCAGAGCCCCTTTGCCTTCCCTGCCCTGACCTTCTGTTACCAGGCGGTTACTCCACAAGCCCCTCTAGAGACTGATTCTTTTTTCACTTTCTCCAGAACGACCACTAACCCTCATCAGCTGATGTTGAAGCCTGCCTAATGATTGGTAGGAAAAGGAATGTTCCTTGAAAATAGCAGGACTCGGCCTGGTGCGGTCGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTGTACTAAAAAAAAAAAAAAAAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTATGCACCTGTAGTCCCACCTACTTGGGAGGCTGAGGTGGGAGAATCGCTTGATCCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGCACCACTGCCCTCCAGCATGGGTAATGGTTACTATCTCAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAGAAAGGAAATAGGAGGACTCTATAGCTTCCATGCACATGATGACAGTGGCCATGACTTGATCACCACCATGGACTGTTGAGATGGGGGGAAAGACTCAAGGTGTGAGAAACAAGAGGCAACTGTGGTGCCTGGCTTTTGCCCCCGCTGAGCCATGACAACTTGGTGGCTTCAGGAAAGTCACTTCAACTCTCTGAATGAATGTCCACTTCCCCGGCACACAAAAGGGGCAATAAACGTATTCTACCTCCCCATCAAGAGAATACATATTAGTGATCTTTGAATACTGCAGAAAGCTTTTACACATTTTTGGGGCCGCAAATATTTGTCACTAAAATTTGTGGGAAAGAGTAGACAGCCGCTGATAGGGAAAGACTAAGCCAGGAAATGACAGGCTAGCATGGCAGCCAGCTTCTCTGCTGGAAGACTCACAAGGTGGTGGTTTTCCCAGCTCCATTGTGGCCCAGGAATGCGGTGATCTGGTTCTCGTAGAAGGTGATGTTCAGACGGTCCACAGCTGGCCGGCCACAGGGCTCAAAAATCTTTACCAGATTCTTCACGCATACCCCAGGAACCCACCCTGGATGCTCACGTTCAAAGAAGGAGTCTTGGAGGAAAAAAAATGAACATGATGTAAACATAATGCCTAATTACATGGCCCCAGGGCTCTGTCTCCAGGCCCTTGTATTCTGCCTATAACGTCACCTGCCCCTGTGGCTTCGGCTATCACCGTTGCAAGGAAGACTCCAGAATAATAATAGTAATACTAGCATCAAACGTTTATACAGCACCTCCTATATGCCAGGCACTGCTTCGACTGCTTTACACAAATTACCTCAATGTACTCTTACAATGGTCCTAAGGGGTAGACATTTATTAGGCTCATTTCCATAGTCCAGGAAACCTTAGACACAGAGACATCAAGCGTCCTATTAAGGACACATAGGCATGAGTGGCAGAGTTGGGATTTGAACCCAGAGCCCATGCTTGTCAGAATGCACTCACTGTCTATAGGGAGAGTTGGCCCCAAGCTCAACCTTGGTCCTAGGCCCTCATTGCCAACAGTCCACGGGGCATTTCCTCATGAATTTCTGGAAGCGGCTTAGGTTCTTCATCTTCCCAAAACAACATCTGCCTTCAGATTCTCCCATGACCTTTTCTGGACCGCCATTCTCTTAGTCACCTTGGCTTGAATCTTTGAGTTGACTTTGACTAAGGCTTCTTGCTCCTCAGAACTCCCAGGTTTTCCAATAGGTGGGTAGGGCAGTCCACGCTTCCTCATCACCATCCCTCAAACCCCACTCCCCTCCTTCTTCCTCCCATGCCCCCTCCAGTGCAGACCCTCACCGAGTGCTCTCACTTCTCCCTGACCTCCCATCTATCCCTGCTTCATTTCACCCTATATGGCACAGCTTAATTTGTCATCTTAATACTGTAGCTCTAAGCATTTCTTTCCCTAGGGGGAAAAAGTCCACTGTTTCTTCTATCCGTGCCTCCTGGCCTTGCCTGCAACTGAGGTGGAACCAGTCCCCAGCCTCCTGATTTGGCTTAGACTTTCCACTGTGGGAGGAGGATCTTGCCAGAGGCATGGTGTACTGCAGTCTAACTCTGGGAGGGGCTGCAGGTCTCTGGCTTTAGTTTTATGAAATGGCCCCTGGGGTGGGCTGGAGGGATAAAGGCCAGACCCTCTCCTGCCCTGTCAGGCAGAGCCCAGGGGCTGTGCTGCCTGTCTAAACCCAGAGCATTTTGGCCACAGAGAAATGCGTATGCTTAGGGAATGAAAAGCCTTGGGAGAAATACAGAACTAGTTTAAGAGAGAAGATGAGGGCAGCAAAAGCCAGGAAAACAAAACTTGTAAATCTGGGTCGTCAGTTTAGGGATTATTAGGTAACTTCCACTGTCAGGAAAGGCTTCTGATGGTTTCAATGAATGGCCTTCTAGATTTGTAAGCCGTAAGTGAAGTGTAGTCAGCTCCCCTGGAGTCTCTTTCCCCCTGGACACAGAAGCATTTATTTTTGTCTTTCCTTATAGCTCATATCCGCTTTAAGTCCCAGTGACCAAAGTTATTGTTCTTGCTAAATCCTCGGAAGTCAGCACATTTGTGCAACTCACTTGGGATTTGCCTAACAAGGGCACAGGCACACTACATAGTTGGTATTTGCTTTCTCCAGGAAATATGCGCTAATGTCTGGGCTGAACCATTCATTCCACACACATGCAGATGGACCTCTGAGAAGGGATCTGGTTTAACACTTGTCCACAGAGAGAGTCAGTTTCCTAGGCTTCTTTCCACCCTTGCCATGAGATGTTTTGCTCTGGCCCTCTGCAGTGCTTAGAGCCTTTTCCTCGCCTCTGCTGTGTATTCTTTATCGGGGTTTTACCGTGTATTCCTTCTGGGTGCTCTGGATCCTCCGTTTCCTCTGTTAGGGGCTCGGTCTTTTCCAGGGCTCTTTCTTCTCTGGTTGAACACCCTGCACCAATCAGAAGCCAGTG
TGTGGGGCCCCCTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGATCGAAGCCAGGCATGGGAATTACCACCACCAATATTAGCTTTGGATCCAAAACATAAAAAGCCTCAGAGCAATGGTGGGCTTTTTTTTTTTTTTTTTTTAAATGGGAACTATGACTCCCATGTCCTTAGGTTGTTGTAAGGCTTAAATGAGTTAATACACTTACAACATTAGAACAGCGCCAGCATAAAGTAAAACTCAAAAATATTATTACTGTTAGTATTAAACATTGTTTTAACCCCTGGGGGAAGTTGCATGTCAGCAGCCGATGAAGTAATGTGTTTGCCTTTGCGGAGCCCTGGGGTCCTGGAATTTGCTTCCAGCTCTCTGACCATATCAGTTAGCATGGAGAGAAAGCAGATGGATGCAGGGCCGCCACACCCAGCTCTGTCCCTGAGTTCTGATACCATCTCAGGCTATCTGAACTTGTCCTGATGGAGAAGCCGAAATCTCCGCGATCAACCACTAGAGGGAAACAGAACCAATTAGAATGGCACCGGCCCCACATTCCATTCACACTGAACCGCCCTAGAGAACATTCCATCACAGGGTGTACACGCTGTTGTTCCTTCCTGGGGCTCTCCAAAGGACTTGAAGACTGTGTCACGTGGGTTCGCTGCCCCCTGCGAGGTCCGTGTCTGCTGCTCCTTGGGAAACCATGGCGGGCCGTGTTCTCCTCTCAGCAGATGGCGCTCGGGTCCCTTGGAGGAGAGTGGGGCGCCTGCGGAGCTGAGAGATCCGCGCAGAGCCCCTTTGCCTTCCCTGCCCTGACCTTCTGTTACCAGGCGGTTACTCCACAAGCCCCTCTAGAGACTGATTCTTTTTTCACTTTCTCCAGAACGACCACTAACCCTCATCAGCTGATGTTGAAGCCTGCCTAATGATTGGTAGGAAAAGGAATGTTCCTTGAAAATAGCAGGACTCGGCCTGGTGCGGTCGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTGTACTAAAAAAAAAAAAAAAAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTATGCACCTGTAGTCCCACCTACTTGGGAGGCTGAGGTGGGAGAATCGCTTGATCCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGCACCACTGCCCTCCAGCATGGGTAATGGTTACTATCTCAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAGAAAGGAAATAGGAGGACTCTATAGCTTCCATGCACATGATGACAGTGGCCATGACTTGATCACCACCATGGACTGTTGAGATGGGGGGAAAGACTCAAGGTGTGAGAAACAAGAGGCAACTGTGGTGCCTGGCTTTTGCCCCCGCTGAGCCATGACAACTTGGTGGCTTCAGGAAAGTCACTTCAACTCTCTGAATGAATGTCCACTTCCCCGGCACACAAAAGGGGCAATAAACGTATTCTACCTCCCCATCAAGAGAATACATATTAGTGATCTTTGAATACTGCAGAAAGCTTTTACACATTTTTGGGGCCGCAAATATTTGTCACTAAAATTTGTGGGAAAGAGTAGACAGCCGCTGATAGGGAAAGACTAAGCCAGGAAATGACAGGCTAGCATGGCAGCCAGCTTCTCTGCTGGAAGACTCACAAGGTGGTGGTTTCCCCAGCTCCATTGTGGCCCAGGAATGCGGTGATCTGGTTCTCGTAGAAGGTGATGTTCAGACGGTCCACAGCTGGCCGGCCACAGGGCTCAAAAATCTTTACCAGATTCTTCACGCATACCCCAGGAACCCACCCTGGATGCTCACGTTCAAAGAAGGAGTCTTGGAGGAAAAAAAATGAACATGATGTAAACATAATGCCTAATTACATGGCCCCAGGGCTCTGTCTCCAGGCCCTTGTATTCTGCCTATAACGTCACCTGCCCCTGTGGCTTCGGCTATCACCGTTGCAAGGAAGACTCCAGAATAATAATAGTAATACTAGCATCAAACGTTTATACAGCACCTCCTATATGCCAGGCACTGCTTCGACTGCTTTACACAAATTACCTCAATGTACTCTTACAATGGTCCTAAGGGGTAGACATTTATTAGGCTCATTTCCATAGTCCAGGAAACCTTAGACACAGAGACATCAAGCGTCCTATTAAGGACACATAGGCATGAGTGGCAGAGTTGGGATTTGAACCCAGAGCCCATGCTTGTCAGAATGCACTCACTGTCTATAGGGAGAGTTGGCCCCAAGCTCAACCTTGGTCCTAGGCCCTCATTGCCAACAGTCCACGGGGCATTTCCTCATGAATTTCTGGAAGCGGCTTAGGTTCTTCATCTTCCCAAAACAACATCTGCCTTCAGATTCTCCCATGACCTTTTCTGGACCGCCATTCTCTTAGTCACCTTGGCTTGAATCTTTGAGTTGACTTTGACTAAGGCTTCTTGCTCCTCAGAACTCCCAGGTTTTCCAATAGGTGGGTAGGGCAGTCCACGCTTCCTCATCACCATCCCTCAAACCCCACTCCCCTCCTTCTTCCTCCCATGCCCCCTCCAGTGCAGACCCTCACCGAGTGCTCTCACTTCTCCCTGACCTCCCATCTATCCCTGCTTCATTTCACCCTATATGGCACAGCTTAATTTGTCATCTTAATACTGTAGCTCTAAGCATTTCTTTCCCTAGGGGGAAAAAGTCCACTGTTTCTTCTATCCGTGCCTCCTGGCCTTGCCTGCAACTGAGGTGGAACCAGTCCCCAGCCTCCTGATTTGGCTTAGACTTTCCACTGTGGGAGGAGGATCTTGCCAGAGGCATGGTGTACTGCAGTCTAACTCTGGGAGGGGCTGCAGGTCTCTGGCTTTAGTTTTATGAAATGGCCCCTGGGGTGGGCTGGAGGGATAAAGGCCAGACCCTCTCCTGCCCTGTCAGGCAGAGCCCAGGGGCTGTGCTGCCTGTCTAAACCCAGAGCATTTTGGCCACAGAGAAATGCGTATGCTTAGGGAATGAAAAGCCTTGGGAGAAATACAGAACTAGTTTAAGAGAGAAGATGAGGGCAGCAAAAGCCAGGAAAACAAAACTTGTAAATCTGGGTCGTCAGTTTAGGGATTATTAGGTAACTTCCACTGTCAGGAAAGGCTTCTGATGGTTTCAATGAATGGCCTTCTAGATTTGTAAGCCGTAAGTGAAGTGTAGTCAGCTCCCCTGGAGTCTCTTTCCCCCTGGACACAGAAGCATTTATTTTTGTCTTTCCTTATAGCTCATATCCGCTTTAAGTCCCAGTGACCAAAGTTATTGTTCTTGCTAAATCCTCGGAAGTCAGCACATTTGTGCAACTCACTTGGGATTTGCCTAACAAGGGCACAGGCACACTACATAGTTGGTATTTGCTTTCTCCAGGAAATATGCGCTAATGTCTGGGCTGAACCATTCATTCCACACACATGCAGATGGACCTCTGAGAAGGGATCTGGTTTAACACTTGTCCACAGAGAGAGTCAGTTTCCTAGGCTTCTTTCCACCCTTGCCATGAGATGTTTTGCTCTGGCCCTCTGCAGTGCTTAGAGCCTTTTCCTCGCCTCTGCTGTGTATTCTTTATCGGGGTTTTACCGTGTATTCCTTCTGGGTGCTCTGGATCCTCCGTTTCCTCTGTTAGGGGCTCGGTCTTTTCCAGGGCTCTTTCTTCTCTGGTTGAACACCCTGCACCAATCAGAAGCCAGTG
Task1_train_1258
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; Retinitis pigmentosa 19
CTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGATCGAAGCCAGGCATGGGAATTACCACCACCAATATTAGCTTTGGATCCAAAACATAAAAAGCCTCAGAGCAATGGTGGGCTTTTTTTTTTTTTTTTTTTAAATGGGAACTATGACTCCCATGTCCTTAGGTTGTTGTAAGGCTTAAATGAGTTAATACACTTACAACATTAGAACAGCGCCAGCATAAAGTAAAACTCAAAAATATTATTACTGTTAGTATTAAACATTGTTTTAACCCCTGGGGGAAGTTGCATGTCAGCAGCCGATGAAGTAATGTGTTTGCCTTTGCGGAGCCCTGGGGTCCTGGAATTTGCTTCCAGCTCTCTGACCATATCAGTTAGCATGGAGAGAAAGCAGATGGATGCAGGGCCGCCACACCCAGCTCTGTCCCTGAGTTCTGATACCATCTCAGGCTATCTGAACTTGTCCTGATGGAGAAGCCGAAATCTCCGCGATCAACCACTAGAGGGAAACAGAACCAATTAGAATGGCACCGGCCCCACATTCCATTCACACTGAACCGCCCTAGAGAACATTCCATCACAGGGTGTACACGCTGTTGTTCCTTCCTGGGGCTCTCCAAAGGACTTGAAGACTGTGTCACGTGGGTTCGCTGCCCCCTGCGAGGTCCGTGTCTGCTGCTCCTTGGGAAACCATGGCGGGCCGTGTTCTCCTCTCAGCAGATGGCGCTCGGGTCCCTTGGAGGAGAGTGGGGCGCCTGCGGAGCTGAGAGATCCGCGCAGAGCCCCTTTGCCTTCCCTGCCCTGACCTTCTGTTACCAGGCGGTTACTCCACAAGCCCCTCTAGAGACTGATTCTTTTTTCACTTTCTCCAGAACGACCACTAACCCTCATCAGCTGATGTTGAAGCCTGCCTAATGATTGGTAGGAAAAGGAATGTTCCTTGAAAATAGCAGGACTCGGCCTGGTGCGGTCGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTGTACTAAAAAAAAAAAAAAAAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTATGCACCTGTAGTCCCACCTACTTGGGAGGCTGAGGTGGGAGAATCGCTTGATCCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGCACCACTGCCCTCCAGCATGGGTAATGGTTACTATCTCAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAGAAAGGAAATAGGAGGACTCTATAGCTTCCATGCACATGATGACAGTGGCCATGACTTGATCACCACCATGGACTGTTGAGATGGGGGGAAAGACTCAAGGTGTGAGAAACAAGAGGCAACTGTGGTGCCTGGCTTTTGCCCCCGCTGAGCCATGACAACTTGGTGGCTTCAGGAAAGTCACTTCAACTCTCTGAATGAATGTCCACTTCCCCGGCACACAAAAGGGGCAATAAACGTATTCTACCTCCCCATCAAGAGAATACATATTAGTGATCTTTGAATACTGCAGAAAGCTTTTACACATTTTTGGGGCCGCAAATATTTGTCACTAAAATTTGTGGGAAAGAGTAGACAGCCGCTGATAGGGAAAGACTAAGCCAGGAAATGACAGGCTAGCATGGCAGCCAGCTTCTCTGCTGGAAGACTCACAAGGTGGTGGTTTTCCCAGCTCCATTGTGGCCCAGGAATGCGGTGATCTGGTTCTCGTAGAAGGTGATGTTCAGACGGTCCACAGCTGGCCGGCCACAGGGCTCAAAAATCTTTACCAGATTCTTCACGCATACCCCAGGAACCCACCCTGGATGCTCACGTTCAAAGAAGGAGTCTTGGAGGAAAAAAAATGAACATGATGTAAACATAATGCCTAATTACATGGCCCCAGGGCTCTGTCTCCAGGCCCTTGTATTCTGCCTATAACGTCACCTGCCCCTGTGGCTTCGGCTATCACCGTTGCAAGGAAGACTCCAGAATAATAATAGTAATACTAGCATCAAACGTTTATACAGCACCTCCTATATGCCAGGCACTGCTTCGACTGCTTTACACAAATTACCTCAATGTACTCTTACAATGGTCCTAAGGGGTAGACATTTATTAGGCTCATTTCCATAGTCCAGGAAACCTTAGACACAGAGACATCAAGCGTCCTATTAAGGACACATAGGCATGAGTGGCAGAGTTGGGATTTGAACCCAGAGCCCATGCTTGTCAGAATGCACTCACTGTCTATAGGGAGAGTTGGCCCCAAGCTCAACCTTGGTCCTAGGCCCTCATTGCCAACAGTCCACGGGGCATTTCCTCATGAATTTCTGGAAGCGGCTTAGGTTCTTCATCTTCCCAAAACAACATCTGCCTTCAGATTCTCCCATGACCTTTTCTGGACCGCCATTCTCTTAGTCACCTTGGCTTGAATCTTTGAGTTGACTTTGACTAAGGCTTCTTGCTCCTCAGAACTCCCAGGTTTTCCAATAGGTGGGTAGGGCAGTCCACGCTTCCTCATCACCATCCCTCAAACCCCACTCCCCTCCTTCTTCCTCCCATGCCCCCTCCAGTGCAGACCCTCACCGAGTGCTCTCACTTCTCCCTGACCTCCCATCTATCCCTGCTTCATTTCACCCTATATGGCACAGCTTAATTTGTCATCTTAATACTGTAGCTCTAAGCATTTCTTTCCCTAGGGGGAAAAAGTCCACTGTTTCTTCTATCCGTGCCTCCTGGCCTTGCCTGCAACTGAGGTGGAACCAGTCCCCAGCCTCCTGATTTGGCTTAGACTTTCCACTGTGGGAGGAGGATCTTGCCAGAGGCATGGTGTACTGCAGTCTAACTCTGGGAGGGGCTGCAGGTCTCTGGCTTTAGTTTTATGAAATGGCCCCTGGGGTGGGCTGGAGGGATAAAGGCCAGACCCTCTCCTGCCCTGTCAGGCAGAGCCCAGGGGCTGTGCTGCCTGTCTAAACCCAGAGCATTTTGGCCACAGAGAAATGCGTATGCTTAGGGAATGAAAAGCCTTGGGAGAAATACAGAACTAGTTTAAGAGAGAAGATGAGGGCAGCAAAAGCCAGGAAAACAAAACTTGTAAATCTGGGTCGTCAGTTTAGGGATTATTAGGTAACTTCCACTGTCAGGAAAGGCTTCTGATGGTTTCAATGAATGGCCTTCTAGATTTGTAAGCCGTAAGTGAAGTGTAGTCAGCTCCCCTGGAGTCTCTTTCCCCCTGGACACAGAAGCATTTATTTTTGTCTTTCCTTATAGCTCATATCCGCTTTAAGTCCCAGTGACCAAAGTTATTGTTCTTGCTAAATCCTCGGAAGTCAGCACATTTGTGCAACTCACTTGGGATTTGCCTAACAAGGGCACAGGCACACTACATAGTTGGTATTTGCTTTCTCCAGGAAATATGCGCTAATGTCTGGGCTGAACCATTCATTCCACACACATGCAGATGGACCTCTGAGAAGGGATCTGGTTTAACACTTGTCCACAGAGAGAGTCAGTTTCCTAGGCTTCTTTCCACCCTTGCCATGAGATGTTTTGCTCTGGCCCTCTGCAGTGCTTAGAGCCTTTTCCTCGCCTCTGCTGTGTATTCTTTATCGGGGTTTTACCGTGTATTCCTTCTGGGTGCTCTGGATCCTCCGTTTCCTCTGTTAGGGGCTCGGTCTTTTCCAGGGCTCTTTCTTCTCTGGTTGAACACCCTGCACCAATCAGAAGCCAGTGTTACTCTACCA
CTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGATCGAAGCCAGGCATGGGAATTACCACCACCAATATTAGCTTTGGATCCAAAACATAAAAAGCCTCAGAGCAATGGTGGGCTTTTTTTTTTTTTTTTTTTAAATGGGAACTATGACTCCCATGTCCTTAGGTTGTTGTAAGGCTTAAATGAGTTAATACACTTACAACATTAGAACAGCGCCAGCATAAAGTAAAACTCAAAAATATTATTACTGTTAGTATTAAACATTGTTTTAACCCCTGGGGGAAGTTGCATGTCAGCAGCCGATGAAGTAATGTGTTTGCCTTTGCGGAGCCCTGGGGTCCTGGAATTTGCTTCCAGCTCTCTGACCATATCAGTTAGCATGGAGAGAAAGCAGATGGATGCAGGGCCGCCACACCCAGCTCTGTCCCTGAGTTCTGATACCATCTCAGGCTATCTGAACTTGTCCTGATGGAGAAGCCGAAATCTCCGCGATCAACCACTAGAGGGAAACAGAACCAATTAGAATGGCACCGGCCCCACATTCCATTCACACTGAACCGCCCTAGAGAACATTCCATCACAGGGTGTACACGCTGTTGTTCCTTCCTGGGGCTCTCCAAAGGACTTGAAGACTGTGTCACGTGGGTTCGCTGCCCCCTGCGAGGTCCGTGTCTGCTGCTCCTTGGGAAACCATGGCGGGCCGTGTTCTCCTCTCAGCAGATGGCGCTCGGGTCCCTTGGAGGAGAGTGGGGCGCCTGCGGAGCTGAGAGATCCGCGCAGAGCCCCTTTGCCTTCCCTGCCCTGACCTTCTGTTACCAGGCGGTTACTCCACAAGCCCCTCTAGAGACTGATTCTTTTTTCACTTTCTCCAGAACGACCACTAACCCTCATCAGCTGATGTTGAAGCCTGCCTAATGATTGGTAGGAAAAGGAATGTTCCTTGAAAATAGCAGGACTCGGCCTGGTGCGGTCGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTGTACTAAAAAAAAAAAAAAAAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTATGCACCTGTAGTCCCACCTACTTGGGAGGCTGAGGTGGGAGAATCGCTTGATCCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGCACCACTGCCCTCCAGCATGGGTAATGGTTACTATCTCAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAGAAAGGAAATAGGAGGACTCTATAGCTTCCATGCACATGATGACAGTGGCCATGACTTGATCACCACCATGGACTGTTGAGATGGGGGGAAAGACTCAAGGTGTGAGAAACAAGAGGCAACTGTGGTGCCTGGCTTTTGCCCCCGCTGAGCCATGACAACTTGGTGGCTTCAGGAAAGTCACTTCAACTCTCTGAATGAATGTCCACTTCCCCGGCACACAAAAGGGGCAATAAACGTATTCTACCTCCCCATCAAGAGAATACATATTAGTGATCTTTGAATACTGCAGAAAGCTTTTACACATTTTTGGGGCCGCAAATATTTGTCACTAAAATTTGTGGGAAAGAGTAGACAGCCGCTGATAGGGAAAGACTAAGCCAGGAAATGACAGGCTAGCATGGCAGCCAGCTTCTCTGCTGGAAGACTCACAAGGTGGTGGTTTTCCCAGCTCCACTGTGGCCCAGGAATGCGGTGATCTGGTTCTCGTAGAAGGTGATGTTCAGACGGTCCACAGCTGGCCGGCCACAGGGCTCAAAAATCTTTACCAGATTCTTCACGCATACCCCAGGAACCCACCCTGGATGCTCACGTTCAAAGAAGGAGTCTTGGAGGAAAAAAAATGAACATGATGTAAACATAATGCCTAATTACATGGCCCCAGGGCTCTGTCTCCAGGCCCTTGTATTCTGCCTATAACGTCACCTGCCCCTGTGGCTTCGGCTATCACCGTTGCAAGGAAGACTCCAGAATAATAATAGTAATACTAGCATCAAACGTTTATACAGCACCTCCTATATGCCAGGCACTGCTTCGACTGCTTTACACAAATTACCTCAATGTACTCTTACAATGGTCCTAAGGGGTAGACATTTATTAGGCTCATTTCCATAGTCCAGGAAACCTTAGACACAGAGACATCAAGCGTCCTATTAAGGACACATAGGCATGAGTGGCAGAGTTGGGATTTGAACCCAGAGCCCATGCTTGTCAGAATGCACTCACTGTCTATAGGGAGAGTTGGCCCCAAGCTCAACCTTGGTCCTAGGCCCTCATTGCCAACAGTCCACGGGGCATTTCCTCATGAATTTCTGGAAGCGGCTTAGGTTCTTCATCTTCCCAAAACAACATCTGCCTTCAGATTCTCCCATGACCTTTTCTGGACCGCCATTCTCTTAGTCACCTTGGCTTGAATCTTTGAGTTGACTTTGACTAAGGCTTCTTGCTCCTCAGAACTCCCAGGTTTTCCAATAGGTGGGTAGGGCAGTCCACGCTTCCTCATCACCATCCCTCAAACCCCACTCCCCTCCTTCTTCCTCCCATGCCCCCTCCAGTGCAGACCCTCACCGAGTGCTCTCACTTCTCCCTGACCTCCCATCTATCCCTGCTTCATTTCACCCTATATGGCACAGCTTAATTTGTCATCTTAATACTGTAGCTCTAAGCATTTCTTTCCCTAGGGGGAAAAAGTCCACTGTTTCTTCTATCCGTGCCTCCTGGCCTTGCCTGCAACTGAGGTGGAACCAGTCCCCAGCCTCCTGATTTGGCTTAGACTTTCCACTGTGGGAGGAGGATCTTGCCAGAGGCATGGTGTACTGCAGTCTAACTCTGGGAGGGGCTGCAGGTCTCTGGCTTTAGTTTTATGAAATGGCCCCTGGGGTGGGCTGGAGGGATAAAGGCCAGACCCTCTCCTGCCCTGTCAGGCAGAGCCCAGGGGCTGTGCTGCCTGTCTAAACCCAGAGCATTTTGGCCACAGAGAAATGCGTATGCTTAGGGAATGAAAAGCCTTGGGAGAAATACAGAACTAGTTTAAGAGAGAAGATGAGGGCAGCAAAAGCCAGGAAAACAAAACTTGTAAATCTGGGTCGTCAGTTTAGGGATTATTAGGTAACTTCCACTGTCAGGAAAGGCTTCTGATGGTTTCAATGAATGGCCTTCTAGATTTGTAAGCCGTAAGTGAAGTGTAGTCAGCTCCCCTGGAGTCTCTTTCCCCCTGGACACAGAAGCATTTATTTTTGTCTTTCCTTATAGCTCATATCCGCTTTAAGTCCCAGTGACCAAAGTTATTGTTCTTGCTAAATCCTCGGAAGTCAGCACATTTGTGCAACTCACTTGGGATTTGCCTAACAAGGGCACAGGCACACTACATAGTTGGTATTTGCTTTCTCCAGGAAATATGCGCTAATGTCTGGGCTGAACCATTCATTCCACACACATGCAGATGGACCTCTGAGAAGGGATCTGGTTTAACACTTGTCCACAGAGAGAGTCAGTTTCCTAGGCTTCTTTCCACCCTTGCCATGAGATGTTTTGCTCTGGCCCTCTGCAGTGCTTAGAGCCTTTTCCTCGCCTCTGCTGTGTATTCTTTATCGGGGTTTTACCGTGTATTCCTTCTGGGTGCTCTGGATCCTCCGTTTCCTCTGTTAGGGGCTCGGTCTTTTCCAGGGCTCTTTCTTCTCTGGTTGAACACCCTGCACCAATCAGAAGCCAGTGTTACTCTACCA
Task1_train_1259
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?
Pathogenic; Severe early-childhood-onset retinal dystrophy
CTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGATCGAAGCCAGGCATGGGAATTACCACCACCAATATTAGCTTTGGATCCAAAACATAAAAAGCCTCAGAGCAATGGTGGGCTTTTTTTTTTTTTTTTTTTAAATGGGAACTATGACTCCCATGTCCTTAGGTTGTTGTAAGGCTTAAATGAGTTAATACACTTACAACATTAGAACAGCGCCAGCATAAAGTAAAACTCAAAAATATTATTACTGTTAGTATTAAACATTGTTTTAACCCCTGGGGGAAGTTGCATGTCAGCAGCCGATGAAGTAATGTGTTTGCCTTTGCGGAGCCCTGGGGTCCTGGAATTTGCTTCCAGCTCTCTGACCATATCAGTTAGCATGGAGAGAAAGCAGATGGATGCAGGGCCGCCACACCCAGCTCTGTCCCTGAGTTCTGATACCATCTCAGGCTATCTGAACTTGTCCTGATGGAGAAGCCGAAATCTCCGCGATCAACCACTAGAGGGAAACAGAACCAATTAGAATGGCACCGGCCCCACATTCCATTCACACTGAACCGCCCTAGAGAACATTCCATCACAGGGTGTACACGCTGTTGTTCCTTCCTGGGGCTCTCCAAAGGACTTGAAGACTGTGTCACGTGGGTTCGCTGCCCCCTGCGAGGTCCGTGTCTGCTGCTCCTTGGGAAACCATGGCGGGCCGTGTTCTCCTCTCAGCAGATGGCGCTCGGGTCCCTTGGAGGAGAGTGGGGCGCCTGCGGAGCTGAGAGATCCGCGCAGAGCCCCTTTGCCTTCCCTGCCCTGACCTTCTGTTACCAGGCGGTTACTCCACAAGCCCCTCTAGAGACTGATTCTTTTTTCACTTTCTCCAGAACGACCACTAACCCTCATCAGCTGATGTTGAAGCCTGCCTAATGATTGGTAGGAAAAGGAATGTTCCTTGAAAATAGCAGGACTCGGCCTGGTGCGGTCGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTGTACTAAAAAAAAAAAAAAAAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTATGCACCTGTAGTCCCACCTACTTGGGAGGCTGAGGTGGGAGAATCGCTTGATCCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGCACCACTGCCCTCCAGCATGGGTAATGGTTACTATCTCAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAGAAAGGAAATAGGAGGACTCTATAGCTTCCATGCACATGATGACAGTGGCCATGACTTGATCACCACCATGGACTGTTGAGATGGGGGGAAAGACTCAAGGTGTGAGAAACAAGAGGCAACTGTGGTGCCTGGCTTTTGCCCCCGCTGAGCCATGACAACTTGGTGGCTTCAGGAAAGTCACTTCAACTCTCTGAATGAATGTCCACTTCCCCGGCACACAAAAGGGGCAATAAACGTATTCTACCTCCCCATCAAGAGAATACATATTAGTGATCTTTGAATACTGCAGAAAGCTTTTACACATTTTTGGGGCCGCAAATATTTGTCACTAAAATTTGTGGGAAAGAGTAGACAGCCGCTGATAGGGAAAGACTAAGCCAGGAAATGACAGGCTAGCATGGCAGCCAGCTTCTCTGCTGGAAGACTCACAAGGTGGTGGTTTTCCCAGCTCCATTGTGGCCCAGGAATGCGGTGATCTGGTTCTCGTAGAAGGTGATGTTCAGACGGTCCACAGCTGGCCGGCCACAGGGCTCAAAAATCTTTACCAGATTCTTCACGCATACCCCAGGAACCCACCCTGGATGCTCACGTTCAAAGAAGGAGTCTTGGAGGAAAAAAAATGAACATGATGTAAACATAATGCCTAATTACATGGCCCCAGGGCTCTGTCTCCAGGCCCTTGTATTCTGCCTATAACGTCACCTGCCCCTGTGGCTTCGGCTATCACCGTTGCAAGGAAGACTCCAGAATAATAATAGTAATACTAGCATCAAACGTTTATACAGCACCTCCTATATGCCAGGCACTGCTTCGACTGCTTTACACAAATTACCTCAATGTACTCTTACAATGGTCCTAAGGGGTAGACATTTATTAGGCTCATTTCCATAGTCCAGGAAACCTTAGACACAGAGACATCAAGCGTCCTATTAAGGACACATAGGCATGAGTGGCAGAGTTGGGATTTGAACCCAGAGCCCATGCTTGTCAGAATGCACTCACTGTCTATAGGGAGAGTTGGCCCCAAGCTCAACCTTGGTCCTAGGCCCTCATTGCCAACAGTCCACGGGGCATTTCCTCATGAATTTCTGGAAGCGGCTTAGGTTCTTCATCTTCCCAAAACAACATCTGCCTTCAGATTCTCCCATGACCTTTTCTGGACCGCCATTCTCTTAGTCACCTTGGCTTGAATCTTTGAGTTGACTTTGACTAAGGCTTCTTGCTCCTCAGAACTCCCAGGTTTTCCAATAGGTGGGTAGGGCAGTCCACGCTTCCTCATCACCATCCCTCAAACCCCACTCCCCTCCTTCTTCCTCCCATGCCCCCTCCAGTGCAGACCCTCACCGAGTGCTCTCACTTCTCCCTGACCTCCCATCTATCCCTGCTTCATTTCACCCTATATGGCACAGCTTAATTTGTCATCTTAATACTGTAGCTCTAAGCATTTCTTTCCCTAGGGGGAAAAAGTCCACTGTTTCTTCTATCCGTGCCTCCTGGCCTTGCCTGCAACTGAGGTGGAACCAGTCCCCAGCCTCCTGATTTGGCTTAGACTTTCCACTGTGGGAGGAGGATCTTGCCAGAGGCATGGTGTACTGCAGTCTAACTCTGGGAGGGGCTGCAGGTCTCTGGCTTTAGTTTTATGAAATGGCCCCTGGGGTGGGCTGGAGGGATAAAGGCCAGACCCTCTCCTGCCCTGTCAGGCAGAGCCCAGGGGCTGTGCTGCCTGTCTAAACCCAGAGCATTTTGGCCACAGAGAAATGCGTATGCTTAGGGAATGAAAAGCCTTGGGAGAAATACAGAACTAGTTTAAGAGAGAAGATGAGGGCAGCAAAAGCCAGGAAAACAAAACTTGTAAATCTGGGTCGTCAGTTTAGGGATTATTAGGTAACTTCCACTGTCAGGAAAGGCTTCTGATGGTTTCAATGAATGGCCTTCTAGATTTGTAAGCCGTAAGTGAAGTGTAGTCAGCTCCCCTGGAGTCTCTTTCCCCCTGGACACAGAAGCATTTATTTTTGTCTTTCCTTATAGCTCATATCCGCTTTAAGTCCCAGTGACCAAAGTTATTGTTCTTGCTAAATCCTCGGAAGTCAGCACATTTGTGCAACTCACTTGGGATTTGCCTAACAAGGGCACAGGCACACTACATAGTTGGTATTTGCTTTCTCCAGGAAATATGCGCTAATGTCTGGGCTGAACCATTCATTCCACACACATGCAGATGGACCTCTGAGAAGGGATCTGGTTTAACACTTGTCCACAGAGAGAGTCAGTTTCCTAGGCTTCTTTCCACCCTTGCCATGAGATGTTTTGCTCTGGCCCTCTGCAGTGCTTAGAGCCTTTTCCTCGCCTCTGCTGTGTATTCTTTATCGGGGTTTTACCGTGTATTCCTTCTGGGTGCTCTGGATCCTCCGTTTCCTCTGTTAGGGGCTCGGTCTTTTCCAGGGCTCTTTCTTCTCTGGTTGAACACCCTGCACCAATCAGAAGCCAGTGTTACTCTACCA
CTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGATCGAAGCCAGGCATGGGAATTACCACCACCAATATTAGCTTTGGATCCAAAACATAAAAAGCCTCAGAGCAATGGTGGGCTTTTTTTTTTTTTTTTTTTAAATGGGAACTATGACTCCCATGTCCTTAGGTTGTTGTAAGGCTTAAATGAGTTAATACACTTACAACATTAGAACAGCGCCAGCATAAAGTAAAACTCAAAAATATTATTACTGTTAGTATTAAACATTGTTTTAACCCCTGGGGGAAGTTGCATGTCAGCAGCCGATGAAGTAATGTGTTTGCCTTTGCGGAGCCCTGGGGTCCTGGAATTTGCTTCCAGCTCTCTGACCATATCAGTTAGCATGGAGAGAAAGCAGATGGATGCAGGGCCGCCACACCCAGCTCTGTCCCTGAGTTCTGATACCATCTCAGGCTATCTGAACTTGTCCTGATGGAGAAGCCGAAATCTCCGCGATCAACCACTAGAGGGAAACAGAACCAATTAGAATGGCACCGGCCCCACATTCCATTCACACTGAACCGCCCTAGAGAACATTCCATCACAGGGTGTACACGCTGTTGTTCCTTCCTGGGGCTCTCCAAAGGACTTGAAGACTGTGTCACGTGGGTTCGCTGCCCCCTGCGAGGTCCGTGTCTGCTGCTCCTTGGGAAACCATGGCGGGCCGTGTTCTCCTCTCAGCAGATGGCGCTCGGGTCCCTTGGAGGAGAGTGGGGCGCCTGCGGAGCTGAGAGATCCGCGCAGAGCCCCTTTGCCTTCCCTGCCCTGACCTTCTGTTACCAGGCGGTTACTCCACAAGCCCCTCTAGAGACTGATTCTTTTTTCACTTTCTCCAGAACGACCACTAACCCTCATCAGCTGATGTTGAAGCCTGCCTAATGATTGGTAGGAAAAGGAATGTTCCTTGAAAATAGCAGGACTCGGCCTGGTGCGGTCGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTGTACTAAAAAAAAAAAAAAAAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTATGCACCTGTAGTCCCACCTACTTGGGAGGCTGAGGTGGGAGAATCGCTTGATCCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGCACCACTGCCCTCCAGCATGGGTAATGGTTACTATCTCAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAGAAAGGAAATAGGAGGACTCTATAGCTTCCATGCACATGATGACAGTGGCCATGACTTGATCACCACCATGGACTGTTGAGATGGGGGGAAAGACTCAAGGTGTGAGAAACAAGAGGCAACTGTGGTGCCTGGCTTTTGCCCCCGCTGAGCCATGACAACTTGGTGGCTTCAGGAAAGTCACTTCAACTCTCTGAATGAATGTCCACTTCCCCGGCACACAAAAGGGGCAATAAACGTATTCTACCTCCCCATCAAGAGAATACATATTAGTGATCTTTGAATACTGCAGAAAGCTTTTACACATTTTTGGGGCCGCAAATATTTGTCACTAAAATTTGTGGGAAAGAGTAGACAGCCGCTGATAGGGAAAGACTAAGCCAGGAAATGACAGGCTAGCATGGCAGCCAGCTTCTCTGCTGGAAGACTCACAAGGTGGTGGTTTTCCCAGCTCCACTGTGGCCCAGGAATGCGGTGATCTGGTTCTCGTAGAAGGTGATGTTCAGACGGTCCACAGCTGGCCGGCCACAGGGCTCAAAAATCTTTACCAGATTCTTCACGCATACCCCAGGAACCCACCCTGGATGCTCACGTTCAAAGAAGGAGTCTTGGAGGAAAAAAAATGAACATGATGTAAACATAATGCCTAATTACATGGCCCCAGGGCTCTGTCTCCAGGCCCTTGTATTCTGCCTATAACGTCACCTGCCCCTGTGGCTTCGGCTATCACCGTTGCAAGGAAGACTCCAGAATAATAATAGTAATACTAGCATCAAACGTTTATACAGCACCTCCTATATGCCAGGCACTGCTTCGACTGCTTTACACAAATTACCTCAATGTACTCTTACAATGGTCCTAAGGGGTAGACATTTATTAGGCTCATTTCCATAGTCCAGGAAACCTTAGACACAGAGACATCAAGCGTCCTATTAAGGACACATAGGCATGAGTGGCAGAGTTGGGATTTGAACCCAGAGCCCATGCTTGTCAGAATGCACTCACTGTCTATAGGGAGAGTTGGCCCCAAGCTCAACCTTGGTCCTAGGCCCTCATTGCCAACAGTCCACGGGGCATTTCCTCATGAATTTCTGGAAGCGGCTTAGGTTCTTCATCTTCCCAAAACAACATCTGCCTTCAGATTCTCCCATGACCTTTTCTGGACCGCCATTCTCTTAGTCACCTTGGCTTGAATCTTTGAGTTGACTTTGACTAAGGCTTCTTGCTCCTCAGAACTCCCAGGTTTTCCAATAGGTGGGTAGGGCAGTCCACGCTTCCTCATCACCATCCCTCAAACCCCACTCCCCTCCTTCTTCCTCCCATGCCCCCTCCAGTGCAGACCCTCACCGAGTGCTCTCACTTCTCCCTGACCTCCCATCTATCCCTGCTTCATTTCACCCTATATGGCACAGCTTAATTTGTCATCTTAATACTGTAGCTCTAAGCATTTCTTTCCCTAGGGGGAAAAAGTCCACTGTTTCTTCTATCCGTGCCTCCTGGCCTTGCCTGCAACTGAGGTGGAACCAGTCCCCAGCCTCCTGATTTGGCTTAGACTTTCCACTGTGGGAGGAGGATCTTGCCAGAGGCATGGTGTACTGCAGTCTAACTCTGGGAGGGGCTGCAGGTCTCTGGCTTTAGTTTTATGAAATGGCCCCTGGGGTGGGCTGGAGGGATAAAGGCCAGACCCTCTCCTGCCCTGTCAGGCAGAGCCCAGGGGCTGTGCTGCCTGTCTAAACCCAGAGCATTTTGGCCACAGAGAAATGCGTATGCTTAGGGAATGAAAAGCCTTGGGAGAAATACAGAACTAGTTTAAGAGAGAAGATGAGGGCAGCAAAAGCCAGGAAAACAAAACTTGTAAATCTGGGTCGTCAGTTTAGGGATTATTAGGTAACTTCCACTGTCAGGAAAGGCTTCTGATGGTTTCAATGAATGGCCTTCTAGATTTGTAAGCCGTAAGTGAAGTGTAGTCAGCTCCCCTGGAGTCTCTTTCCCCCTGGACACAGAAGCATTTATTTTTGTCTTTCCTTATAGCTCATATCCGCTTTAAGTCCCAGTGACCAAAGTTATTGTTCTTGCTAAATCCTCGGAAGTCAGCACATTTGTGCAACTCACTTGGGATTTGCCTAACAAGGGCACAGGCACACTACATAGTTGGTATTTGCTTTCTCCAGGAAATATGCGCTAATGTCTGGGCTGAACCATTCATTCCACACACATGCAGATGGACCTCTGAGAAGGGATCTGGTTTAACACTTGTCCACAGAGAGAGTCAGTTTCCTAGGCTTCTTTCCACCCTTGCCATGAGATGTTTTGCTCTGGCCCTCTGCAGTGCTTAGAGCCTTTTCCTCGCCTCTGCTGTGTATTCTTTATCGGGGTTTTACCGTGTATTCCTTCTGGGTGCTCTGGATCCTCCGTTTCCTCTGTTAGGGGCTCGGTCTTTTCCAGGGCTCTTTCTTCTCTGGTTGAACACCCTGCACCAATCAGAAGCCAGTGTTACTCTACCA
Task1_train_1260
The gene ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Cone-rod dystrophy 3
CTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGATCGAAGCCAGGCATGGGAATTACCACCACCAATATTAGCTTTGGATCCAAAACATAAAAAGCCTCAGAGCAATGGTGGGCTTTTTTTTTTTTTTTTTTTAAATGGGAACTATGACTCCCATGTCCTTAGGTTGTTGTAAGGCTTAAATGAGTTAATACACTTACAACATTAGAACAGCGCCAGCATAAAGTAAAACTCAAAAATATTATTACTGTTAGTATTAAACATTGTTTTAACCCCTGGGGGAAGTTGCATGTCAGCAGCCGATGAAGTAATGTGTTTGCCTTTGCGGAGCCCTGGGGTCCTGGAATTTGCTTCCAGCTCTCTGACCATATCAGTTAGCATGGAGAGAAAGCAGATGGATGCAGGGCCGCCACACCCAGCTCTGTCCCTGAGTTCTGATACCATCTCAGGCTATCTGAACTTGTCCTGATGGAGAAGCCGAAATCTCCGCGATCAACCACTAGAGGGAAACAGAACCAATTAGAATGGCACCGGCCCCACATTCCATTCACACTGAACCGCCCTAGAGAACATTCCATCACAGGGTGTACACGCTGTTGTTCCTTCCTGGGGCTCTCCAAAGGACTTGAAGACTGTGTCACGTGGGTTCGCTGCCCCCTGCGAGGTCCGTGTCTGCTGCTCCTTGGGAAACCATGGCGGGCCGTGTTCTCCTCTCAGCAGATGGCGCTCGGGTCCCTTGGAGGAGAGTGGGGCGCCTGCGGAGCTGAGAGATCCGCGCAGAGCCCCTTTGCCTTCCCTGCCCTGACCTTCTGTTACCAGGCGGTTACTCCACAAGCCCCTCTAGAGACTGATTCTTTTTTCACTTTCTCCAGAACGACCACTAACCCTCATCAGCTGATGTTGAAGCCTGCCTAATGATTGGTAGGAAAAGGAATGTTCCTTGAAAATAGCAGGACTCGGCCTGGTGCGGTCGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTGTACTAAAAAAAAAAAAAAAAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTATGCACCTGTAGTCCCACCTACTTGGGAGGCTGAGGTGGGAGAATCGCTTGATCCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGCACCACTGCCCTCCAGCATGGGTAATGGTTACTATCTCAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAGAAAGGAAATAGGAGGACTCTATAGCTTCCATGCACATGATGACAGTGGCCATGACTTGATCACCACCATGGACTGTTGAGATGGGGGGAAAGACTCAAGGTGTGAGAAACAAGAGGCAACTGTGGTGCCTGGCTTTTGCCCCCGCTGAGCCATGACAACTTGGTGGCTTCAGGAAAGTCACTTCAACTCTCTGAATGAATGTCCACTTCCCCGGCACACAAAAGGGGCAATAAACGTATTCTACCTCCCCATCAAGAGAATACATATTAGTGATCTTTGAATACTGCAGAAAGCTTTTACACATTTTTGGGGCCGCAAATATTTGTCACTAAAATTTGTGGGAAAGAGTAGACAGCCGCTGATAGGGAAAGACTAAGCCAGGAAATGACAGGCTAGCATGGCAGCCAGCTTCTCTGCTGGAAGACTCACAAGGTGGTGGTTTTCCCAGCTCCATTGTGGCCCAGGAATGCGGTGATCTGGTTCTCGTAGAAGGTGATGTTCAGACGGTCCACAGCTGGCCGGCCACAGGGCTCAAAAATCTTTACCAGATTCTTCACGCATACCCCAGGAACCCACCCTGGATGCTCACGTTCAAAGAAGGAGTCTTGGAGGAAAAAAAATGAACATGATGTAAACATAATGCCTAATTACATGGCCCCAGGGCTCTGTCTCCAGGCCCTTGTATTCTGCCTATAACGTCACCTGCCCCTGTGGCTTCGGCTATCACCGTTGCAAGGAAGACTCCAGAATAATAATAGTAATACTAGCATCAAACGTTTATACAGCACCTCCTATATGCCAGGCACTGCTTCGACTGCTTTACACAAATTACCTCAATGTACTCTTACAATGGTCCTAAGGGGTAGACATTTATTAGGCTCATTTCCATAGTCCAGGAAACCTTAGACACAGAGACATCAAGCGTCCTATTAAGGACACATAGGCATGAGTGGCAGAGTTGGGATTTGAACCCAGAGCCCATGCTTGTCAGAATGCACTCACTGTCTATAGGGAGAGTTGGCCCCAAGCTCAACCTTGGTCCTAGGCCCTCATTGCCAACAGTCCACGGGGCATTTCCTCATGAATTTCTGGAAGCGGCTTAGGTTCTTCATCTTCCCAAAACAACATCTGCCTTCAGATTCTCCCATGACCTTTTCTGGACCGCCATTCTCTTAGTCACCTTGGCTTGAATCTTTGAGTTGACTTTGACTAAGGCTTCTTGCTCCTCAGAACTCCCAGGTTTTCCAATAGGTGGGTAGGGCAGTCCACGCTTCCTCATCACCATCCCTCAAACCCCACTCCCCTCCTTCTTCCTCCCATGCCCCCTCCAGTGCAGACCCTCACCGAGTGCTCTCACTTCTCCCTGACCTCCCATCTATCCCTGCTTCATTTCACCCTATATGGCACAGCTTAATTTGTCATCTTAATACTGTAGCTCTAAGCATTTCTTTCCCTAGGGGGAAAAAGTCCACTGTTTCTTCTATCCGTGCCTCCTGGCCTTGCCTGCAACTGAGGTGGAACCAGTCCCCAGCCTCCTGATTTGGCTTAGACTTTCCACTGTGGGAGGAGGATCTTGCCAGAGGCATGGTGTACTGCAGTCTAACTCTGGGAGGGGCTGCAGGTCTCTGGCTTTAGTTTTATGAAATGGCCCCTGGGGTGGGCTGGAGGGATAAAGGCCAGACCCTCTCCTGCCCTGTCAGGCAGAGCCCAGGGGCTGTGCTGCCTGTCTAAACCCAGAGCATTTTGGCCACAGAGAAATGCGTATGCTTAGGGAATGAAAAGCCTTGGGAGAAATACAGAACTAGTTTAAGAGAGAAGATGAGGGCAGCAAAAGCCAGGAAAACAAAACTTGTAAATCTGGGTCGTCAGTTTAGGGATTATTAGGTAACTTCCACTGTCAGGAAAGGCTTCTGATGGTTTCAATGAATGGCCTTCTAGATTTGTAAGCCGTAAGTGAAGTGTAGTCAGCTCCCCTGGAGTCTCTTTCCCCCTGGACACAGAAGCATTTATTTTTGTCTTTCCTTATAGCTCATATCCGCTTTAAGTCCCAGTGACCAAAGTTATTGTTCTTGCTAAATCCTCGGAAGTCAGCACATTTGTGCAACTCACTTGGGATTTGCCTAACAAGGGCACAGGCACACTACATAGTTGGTATTTGCTTTCTCCAGGAAATATGCGCTAATGTCTGGGCTGAACCATTCATTCCACACACATGCAGATGGACCTCTGAGAAGGGATCTGGTTTAACACTTGTCCACAGAGAGAGTCAGTTTCCTAGGCTTCTTTCCACCCTTGCCATGAGATGTTTTGCTCTGGCCCTCTGCAGTGCTTAGAGCCTTTTCCTCGCCTCTGCTGTGTATTCTTTATCGGGGTTTTACCGTGTATTCCTTCTGGGTGCTCTGGATCCTCCGTTTCCTCTGTTAGGGGCTCGGTCTTTTCCAGGGCTCTTTCTTCTCTGGTTGAACACCCTGCACCAATCAGAAGCCAGTGTTACTCTACCA
CTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGATCGAAGCCAGGCATGGGAATTACCACCACCAATATTAGCTTTGGATCCAAAACATAAAAAGCCTCAGAGCAATGGTGGGCTTTTTTTTTTTTTTTTTTTAAATGGGAACTATGACTCCCATGTCCTTAGGTTGTTGTAAGGCTTAAATGAGTTAATACACTTACAACATTAGAACAGCGCCAGCATAAAGTAAAACTCAAAAATATTATTACTGTTAGTATTAAACATTGTTTTAACCCCTGGGGGAAGTTGCATGTCAGCAGCCGATGAAGTAATGTGTTTGCCTTTGCGGAGCCCTGGGGTCCTGGAATTTGCTTCCAGCTCTCTGACCATATCAGTTAGCATGGAGAGAAAGCAGATGGATGCAGGGCCGCCACACCCAGCTCTGTCCCTGAGTTCTGATACCATCTCAGGCTATCTGAACTTGTCCTGATGGAGAAGCCGAAATCTCCGCGATCAACCACTAGAGGGAAACAGAACCAATTAGAATGGCACCGGCCCCACATTCCATTCACACTGAACCGCCCTAGAGAACATTCCATCACAGGGTGTACACGCTGTTGTTCCTTCCTGGGGCTCTCCAAAGGACTTGAAGACTGTGTCACGTGGGTTCGCTGCCCCCTGCGAGGTCCGTGTCTGCTGCTCCTTGGGAAACCATGGCGGGCCGTGTTCTCCTCTCAGCAGATGGCGCTCGGGTCCCTTGGAGGAGAGTGGGGCGCCTGCGGAGCTGAGAGATCCGCGCAGAGCCCCTTTGCCTTCCCTGCCCTGACCTTCTGTTACCAGGCGGTTACTCCACAAGCCCCTCTAGAGACTGATTCTTTTTTCACTTTCTCCAGAACGACCACTAACCCTCATCAGCTGATGTTGAAGCCTGCCTAATGATTGGTAGGAAAAGGAATGTTCCTTGAAAATAGCAGGACTCGGCCTGGTGCGGTCGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTGTACTAAAAAAAAAAAAAAAAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTATGCACCTGTAGTCCCACCTACTTGGGAGGCTGAGGTGGGAGAATCGCTTGATCCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGCACCACTGCCCTCCAGCATGGGTAATGGTTACTATCTCAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAGAAAGGAAATAGGAGGACTCTATAGCTTCCATGCACATGATGACAGTGGCCATGACTTGATCACCACCATGGACTGTTGAGATGGGGGGAAAGACTCAAGGTGTGAGAAACAAGAGGCAACTGTGGTGCCTGGCTTTTGCCCCCGCTGAGCCATGACAACTTGGTGGCTTCAGGAAAGTCACTTCAACTCTCTGAATGAATGTCCACTTCCCCGGCACACAAAAGGGGCAATAAACGTATTCTACCTCCCCATCAAGAGAATACATATTAGTGATCTTTGAATACTGCAGAAAGCTTTTACACATTTTTGGGGCCGCAAATATTTGTCACTAAAATTTGTGGGAAAGAGTAGACAGCCGCTGATAGGGAAAGACTAAGCCAGGAAATGACAGGCTAGCATGGCAGCCAGCTTCTCTGCTGGAAGACTCACAAGGTGGTGGTTTTCCCAGCTCCACTGTGGCCCAGGAATGCGGTGATCTGGTTCTCGTAGAAGGTGATGTTCAGACGGTCCACAGCTGGCCGGCCACAGGGCTCAAAAATCTTTACCAGATTCTTCACGCATACCCCAGGAACCCACCCTGGATGCTCACGTTCAAAGAAGGAGTCTTGGAGGAAAAAAAATGAACATGATGTAAACATAATGCCTAATTACATGGCCCCAGGGCTCTGTCTCCAGGCCCTTGTATTCTGCCTATAACGTCACCTGCCCCTGTGGCTTCGGCTATCACCGTTGCAAGGAAGACTCCAGAATAATAATAGTAATACTAGCATCAAACGTTTATACAGCACCTCCTATATGCCAGGCACTGCTTCGACTGCTTTACACAAATTACCTCAATGTACTCTTACAATGGTCCTAAGGGGTAGACATTTATTAGGCTCATTTCCATAGTCCAGGAAACCTTAGACACAGAGACATCAAGCGTCCTATTAAGGACACATAGGCATGAGTGGCAGAGTTGGGATTTGAACCCAGAGCCCATGCTTGTCAGAATGCACTCACTGTCTATAGGGAGAGTTGGCCCCAAGCTCAACCTTGGTCCTAGGCCCTCATTGCCAACAGTCCACGGGGCATTTCCTCATGAATTTCTGGAAGCGGCTTAGGTTCTTCATCTTCCCAAAACAACATCTGCCTTCAGATTCTCCCATGACCTTTTCTGGACCGCCATTCTCTTAGTCACCTTGGCTTGAATCTTTGAGTTGACTTTGACTAAGGCTTCTTGCTCCTCAGAACTCCCAGGTTTTCCAATAGGTGGGTAGGGCAGTCCACGCTTCCTCATCACCATCCCTCAAACCCCACTCCCCTCCTTCTTCCTCCCATGCCCCCTCCAGTGCAGACCCTCACCGAGTGCTCTCACTTCTCCCTGACCTCCCATCTATCCCTGCTTCATTTCACCCTATATGGCACAGCTTAATTTGTCATCTTAATACTGTAGCTCTAAGCATTTCTTTCCCTAGGGGGAAAAAGTCCACTGTTTCTTCTATCCGTGCCTCCTGGCCTTGCCTGCAACTGAGGTGGAACCAGTCCCCAGCCTCCTGATTTGGCTTAGACTTTCCACTGTGGGAGGAGGATCTTGCCAGAGGCATGGTGTACTGCAGTCTAACTCTGGGAGGGGCTGCAGGTCTCTGGCTTTAGTTTTATGAAATGGCCCCTGGGGTGGGCTGGAGGGATAAAGGCCAGACCCTCTCCTGCCCTGTCAGGCAGAGCCCAGGGGCTGTGCTGCCTGTCTAAACCCAGAGCATTTTGGCCACAGAGAAATGCGTATGCTTAGGGAATGAAAAGCCTTGGGAGAAATACAGAACTAGTTTAAGAGAGAAGATGAGGGCAGCAAAAGCCAGGAAAACAAAACTTGTAAATCTGGGTCGTCAGTTTAGGGATTATTAGGTAACTTCCACTGTCAGGAAAGGCTTCTGATGGTTTCAATGAATGGCCTTCTAGATTTGTAAGCCGTAAGTGAAGTGTAGTCAGCTCCCCTGGAGTCTCTTTCCCCCTGGACACAGAAGCATTTATTTTTGTCTTTCCTTATAGCTCATATCCGCTTTAAGTCCCAGTGACCAAAGTTATTGTTCTTGCTAAATCCTCGGAAGTCAGCACATTTGTGCAACTCACTTGGGATTTGCCTAACAAGGGCACAGGCACACTACATAGTTGGTATTTGCTTTCTCCAGGAAATATGCGCTAATGTCTGGGCTGAACCATTCATTCCACACACATGCAGATGGACCTCTGAGAAGGGATCTGGTTTAACACTTGTCCACAGAGAGAGTCAGTTTCCTAGGCTTCTTTCCACCCTTGCCATGAGATGTTTTGCTCTGGCCCTCTGCAGTGCTTAGAGCCTTTTCCTCGCCTCTGCTGTGTATTCTTTATCGGGGTTTTACCGTGTATTCCTTCTGGGTGCTCTGGATCCTCCGTTTCCTCTGTTAGGGGCTCGGTCTTTTCCAGGGCTCTTTCTTCTCTGGTTGAACACCCTGCACCAATCAGAAGCCAGTGTTACTCTACCA
Task1_train_1261
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; Age related macular degeneration 2
CTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGATCGAAGCCAGGCATGGGAATTACCACCACCAATATTAGCTTTGGATCCAAAACATAAAAAGCCTCAGAGCAATGGTGGGCTTTTTTTTTTTTTTTTTTTAAATGGGAACTATGACTCCCATGTCCTTAGGTTGTTGTAAGGCTTAAATGAGTTAATACACTTACAACATTAGAACAGCGCCAGCATAAAGTAAAACTCAAAAATATTATTACTGTTAGTATTAAACATTGTTTTAACCCCTGGGGGAAGTTGCATGTCAGCAGCCGATGAAGTAATGTGTTTGCCTTTGCGGAGCCCTGGGGTCCTGGAATTTGCTTCCAGCTCTCTGACCATATCAGTTAGCATGGAGAGAAAGCAGATGGATGCAGGGCCGCCACACCCAGCTCTGTCCCTGAGTTCTGATACCATCTCAGGCTATCTGAACTTGTCCTGATGGAGAAGCCGAAATCTCCGCGATCAACCACTAGAGGGAAACAGAACCAATTAGAATGGCACCGGCCCCACATTCCATTCACACTGAACCGCCCTAGAGAACATTCCATCACAGGGTGTACACGCTGTTGTTCCTTCCTGGGGCTCTCCAAAGGACTTGAAGACTGTGTCACGTGGGTTCGCTGCCCCCTGCGAGGTCCGTGTCTGCTGCTCCTTGGGAAACCATGGCGGGCCGTGTTCTCCTCTCAGCAGATGGCGCTCGGGTCCCTTGGAGGAGAGTGGGGCGCCTGCGGAGCTGAGAGATCCGCGCAGAGCCCCTTTGCCTTCCCTGCCCTGACCTTCTGTTACCAGGCGGTTACTCCACAAGCCCCTCTAGAGACTGATTCTTTTTTCACTTTCTCCAGAACGACCACTAACCCTCATCAGCTGATGTTGAAGCCTGCCTAATGATTGGTAGGAAAAGGAATGTTCCTTGAAAATAGCAGGACTCGGCCTGGTGCGGTCGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTGTACTAAAAAAAAAAAAAAAAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTATGCACCTGTAGTCCCACCTACTTGGGAGGCTGAGGTGGGAGAATCGCTTGATCCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGCACCACTGCCCTCCAGCATGGGTAATGGTTACTATCTCAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAGAAAGGAAATAGGAGGACTCTATAGCTTCCATGCACATGATGACAGTGGCCATGACTTGATCACCACCATGGACTGTTGAGATGGGGGGAAAGACTCAAGGTGTGAGAAACAAGAGGCAACTGTGGTGCCTGGCTTTTGCCCCCGCTGAGCCATGACAACTTGGTGGCTTCAGGAAAGTCACTTCAACTCTCTGAATGAATGTCCACTTCCCCGGCACACAAAAGGGGCAATAAACGTATTCTACCTCCCCATCAAGAGAATACATATTAGTGATCTTTGAATACTGCAGAAAGCTTTTACACATTTTTGGGGCCGCAAATATTTGTCACTAAAATTTGTGGGAAAGAGTAGACAGCCGCTGATAGGGAAAGACTAAGCCAGGAAATGACAGGCTAGCATGGCAGCCAGCTTCTCTGCTGGAAGACTCACAAGGTGGTGGTTTTCCCAGCTCCATTGTGGCCCAGGAATGCGGTGATCTGGTTCTCGTAGAAGGTGATGTTCAGACGGTCCACAGCTGGCCGGCCACAGGGCTCAAAAATCTTTACCAGATTCTTCACGCATACCCCAGGAACCCACCCTGGATGCTCACGTTCAAAGAAGGAGTCTTGGAGGAAAAAAAATGAACATGATGTAAACATAATGCCTAATTACATGGCCCCAGGGCTCTGTCTCCAGGCCCTTGTATTCTGCCTATAACGTCACCTGCCCCTGTGGCTTCGGCTATCACCGTTGCAAGGAAGACTCCAGAATAATAATAGTAATACTAGCATCAAACGTTTATACAGCACCTCCTATATGCCAGGCACTGCTTCGACTGCTTTACACAAATTACCTCAATGTACTCTTACAATGGTCCTAAGGGGTAGACATTTATTAGGCTCATTTCCATAGTCCAGGAAACCTTAGACACAGAGACATCAAGCGTCCTATTAAGGACACATAGGCATGAGTGGCAGAGTTGGGATTTGAACCCAGAGCCCATGCTTGTCAGAATGCACTCACTGTCTATAGGGAGAGTTGGCCCCAAGCTCAACCTTGGTCCTAGGCCCTCATTGCCAACAGTCCACGGGGCATTTCCTCATGAATTTCTGGAAGCGGCTTAGGTTCTTCATCTTCCCAAAACAACATCTGCCTTCAGATTCTCCCATGACCTTTTCTGGACCGCCATTCTCTTAGTCACCTTGGCTTGAATCTTTGAGTTGACTTTGACTAAGGCTTCTTGCTCCTCAGAACTCCCAGGTTTTCCAATAGGTGGGTAGGGCAGTCCACGCTTCCTCATCACCATCCCTCAAACCCCACTCCCCTCCTTCTTCCTCCCATGCCCCCTCCAGTGCAGACCCTCACCGAGTGCTCTCACTTCTCCCTGACCTCCCATCTATCCCTGCTTCATTTCACCCTATATGGCACAGCTTAATTTGTCATCTTAATACTGTAGCTCTAAGCATTTCTTTCCCTAGGGGGAAAAAGTCCACTGTTTCTTCTATCCGTGCCTCCTGGCCTTGCCTGCAACTGAGGTGGAACCAGTCCCCAGCCTCCTGATTTGGCTTAGACTTTCCACTGTGGGAGGAGGATCTTGCCAGAGGCATGGTGTACTGCAGTCTAACTCTGGGAGGGGCTGCAGGTCTCTGGCTTTAGTTTTATGAAATGGCCCCTGGGGTGGGCTGGAGGGATAAAGGCCAGACCCTCTCCTGCCCTGTCAGGCAGAGCCCAGGGGCTGTGCTGCCTGTCTAAACCCAGAGCATTTTGGCCACAGAGAAATGCGTATGCTTAGGGAATGAAAAGCCTTGGGAGAAATACAGAACTAGTTTAAGAGAGAAGATGAGGGCAGCAAAAGCCAGGAAAACAAAACTTGTAAATCTGGGTCGTCAGTTTAGGGATTATTAGGTAACTTCCACTGTCAGGAAAGGCTTCTGATGGTTTCAATGAATGGCCTTCTAGATTTGTAAGCCGTAAGTGAAGTGTAGTCAGCTCCCCTGGAGTCTCTTTCCCCCTGGACACAGAAGCATTTATTTTTGTCTTTCCTTATAGCTCATATCCGCTTTAAGTCCCAGTGACCAAAGTTATTGTTCTTGCTAAATCCTCGGAAGTCAGCACATTTGTGCAACTCACTTGGGATTTGCCTAACAAGGGCACAGGCACACTACATAGTTGGTATTTGCTTTCTCCAGGAAATATGCGCTAATGTCTGGGCTGAACCATTCATTCCACACACATGCAGATGGACCTCTGAGAAGGGATCTGGTTTAACACTTGTCCACAGAGAGAGTCAGTTTCCTAGGCTTCTTTCCACCCTTGCCATGAGATGTTTTGCTCTGGCCCTCTGCAGTGCTTAGAGCCTTTTCCTCGCCTCTGCTGTGTATTCTTTATCGGGGTTTTACCGTGTATTCCTTCTGGGTGCTCTGGATCCTCCGTTTCCTCTGTTAGGGGCTCGGTCTTTTCCAGGGCTCTTTCTTCTCTGGTTGAACACCCTGCACCAATCAGAAGCCAGTGTTACTCTACCA
CTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGATCGAAGCCAGGCATGGGAATTACCACCACCAATATTAGCTTTGGATCCAAAACATAAAAAGCCTCAGAGCAATGGTGGGCTTTTTTTTTTTTTTTTTTTAAATGGGAACTATGACTCCCATGTCCTTAGGTTGTTGTAAGGCTTAAATGAGTTAATACACTTACAACATTAGAACAGCGCCAGCATAAAGTAAAACTCAAAAATATTATTACTGTTAGTATTAAACATTGTTTTAACCCCTGGGGGAAGTTGCATGTCAGCAGCCGATGAAGTAATGTGTTTGCCTTTGCGGAGCCCTGGGGTCCTGGAATTTGCTTCCAGCTCTCTGACCATATCAGTTAGCATGGAGAGAAAGCAGATGGATGCAGGGCCGCCACACCCAGCTCTGTCCCTGAGTTCTGATACCATCTCAGGCTATCTGAACTTGTCCTGATGGAGAAGCCGAAATCTCCGCGATCAACCACTAGAGGGAAACAGAACCAATTAGAATGGCACCGGCCCCACATTCCATTCACACTGAACCGCCCTAGAGAACATTCCATCACAGGGTGTACACGCTGTTGTTCCTTCCTGGGGCTCTCCAAAGGACTTGAAGACTGTGTCACGTGGGTTCGCTGCCCCCTGCGAGGTCCGTGTCTGCTGCTCCTTGGGAAACCATGGCGGGCCGTGTTCTCCTCTCAGCAGATGGCGCTCGGGTCCCTTGGAGGAGAGTGGGGCGCCTGCGGAGCTGAGAGATCCGCGCAGAGCCCCTTTGCCTTCCCTGCCCTGACCTTCTGTTACCAGGCGGTTACTCCACAAGCCCCTCTAGAGACTGATTCTTTTTTCACTTTCTCCAGAACGACCACTAACCCTCATCAGCTGATGTTGAAGCCTGCCTAATGATTGGTAGGAAAAGGAATGTTCCTTGAAAATAGCAGGACTCGGCCTGGTGCGGTCGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTGTACTAAAAAAAAAAAAAAAAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTATGCACCTGTAGTCCCACCTACTTGGGAGGCTGAGGTGGGAGAATCGCTTGATCCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGCACCACTGCCCTCCAGCATGGGTAATGGTTACTATCTCAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAGAAAGGAAATAGGAGGACTCTATAGCTTCCATGCACATGATGACAGTGGCCATGACTTGATCACCACCATGGACTGTTGAGATGGGGGGAAAGACTCAAGGTGTGAGAAACAAGAGGCAACTGTGGTGCCTGGCTTTTGCCCCCGCTGAGCCATGACAACTTGGTGGCTTCAGGAAAGTCACTTCAACTCTCTGAATGAATGTCCACTTCCCCGGCACACAAAAGGGGCAATAAACGTATTCTACCTCCCCATCAAGAGAATACATATTAGTGATCTTTGAATACTGCAGAAAGCTTTTACACATTTTTGGGGCCGCAAATATTTGTCACTAAAATTTGTGGGAAAGAGTAGACAGCCGCTGATAGGGAAAGACTAAGCCAGGAAATGACAGGCTAGCATGGCAGCCAGCTTCTCTGCTGGAAGACTCACAAGGTGGTGGTTTTCCCAGCTCCACTGTGGCCCAGGAATGCGGTGATCTGGTTCTCGTAGAAGGTGATGTTCAGACGGTCCACAGCTGGCCGGCCACAGGGCTCAAAAATCTTTACCAGATTCTTCACGCATACCCCAGGAACCCACCCTGGATGCTCACGTTCAAAGAAGGAGTCTTGGAGGAAAAAAAATGAACATGATGTAAACATAATGCCTAATTACATGGCCCCAGGGCTCTGTCTCCAGGCCCTTGTATTCTGCCTATAACGTCACCTGCCCCTGTGGCTTCGGCTATCACCGTTGCAAGGAAGACTCCAGAATAATAATAGTAATACTAGCATCAAACGTTTATACAGCACCTCCTATATGCCAGGCACTGCTTCGACTGCTTTACACAAATTACCTCAATGTACTCTTACAATGGTCCTAAGGGGTAGACATTTATTAGGCTCATTTCCATAGTCCAGGAAACCTTAGACACAGAGACATCAAGCGTCCTATTAAGGACACATAGGCATGAGTGGCAGAGTTGGGATTTGAACCCAGAGCCCATGCTTGTCAGAATGCACTCACTGTCTATAGGGAGAGTTGGCCCCAAGCTCAACCTTGGTCCTAGGCCCTCATTGCCAACAGTCCACGGGGCATTTCCTCATGAATTTCTGGAAGCGGCTTAGGTTCTTCATCTTCCCAAAACAACATCTGCCTTCAGATTCTCCCATGACCTTTTCTGGACCGCCATTCTCTTAGTCACCTTGGCTTGAATCTTTGAGTTGACTTTGACTAAGGCTTCTTGCTCCTCAGAACTCCCAGGTTTTCCAATAGGTGGGTAGGGCAGTCCACGCTTCCTCATCACCATCCCTCAAACCCCACTCCCCTCCTTCTTCCTCCCATGCCCCCTCCAGTGCAGACCCTCACCGAGTGCTCTCACTTCTCCCTGACCTCCCATCTATCCCTGCTTCATTTCACCCTATATGGCACAGCTTAATTTGTCATCTTAATACTGTAGCTCTAAGCATTTCTTTCCCTAGGGGGAAAAAGTCCACTGTTTCTTCTATCCGTGCCTCCTGGCCTTGCCTGCAACTGAGGTGGAACCAGTCCCCAGCCTCCTGATTTGGCTTAGACTTTCCACTGTGGGAGGAGGATCTTGCCAGAGGCATGGTGTACTGCAGTCTAACTCTGGGAGGGGCTGCAGGTCTCTGGCTTTAGTTTTATGAAATGGCCCCTGGGGTGGGCTGGAGGGATAAAGGCCAGACCCTCTCCTGCCCTGTCAGGCAGAGCCCAGGGGCTGTGCTGCCTGTCTAAACCCAGAGCATTTTGGCCACAGAGAAATGCGTATGCTTAGGGAATGAAAAGCCTTGGGAGAAATACAGAACTAGTTTAAGAGAGAAGATGAGGGCAGCAAAAGCCAGGAAAACAAAACTTGTAAATCTGGGTCGTCAGTTTAGGGATTATTAGGTAACTTCCACTGTCAGGAAAGGCTTCTGATGGTTTCAATGAATGGCCTTCTAGATTTGTAAGCCGTAAGTGAAGTGTAGTCAGCTCCCCTGGAGTCTCTTTCCCCCTGGACACAGAAGCATTTATTTTTGTCTTTCCTTATAGCTCATATCCGCTTTAAGTCCCAGTGACCAAAGTTATTGTTCTTGCTAAATCCTCGGAAGTCAGCACATTTGTGCAACTCACTTGGGATTTGCCTAACAAGGGCACAGGCACACTACATAGTTGGTATTTGCTTTCTCCAGGAAATATGCGCTAATGTCTGGGCTGAACCATTCATTCCACACACATGCAGATGGACCTCTGAGAAGGGATCTGGTTTAACACTTGTCCACAGAGAGAGTCAGTTTCCTAGGCTTCTTTCCACCCTTGCCATGAGATGTTTTGCTCTGGCCCTCTGCAGTGCTTAGAGCCTTTTCCTCGCCTCTGCTGTGTATTCTTTATCGGGGTTTTACCGTGTATTCCTTCTGGGTGCTCTGGATCCTCCGTTTCCTCTGTTAGGGGCTCGGTCTTTTCCAGGGCTCTTTCTTCTCTGGTTGAACACCCTGCACCAATCAGAAGCCAGTGTTACTCTACCA
Task1_train_1262
The variant affects gene ABCA4 (ATP binding cassette subfamily A member 4), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Severe early-childhood-onset retinal dystrophy
CTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGATCGAAGCCAGGCATGGGAATTACCACCACCAATATTAGCTTTGGATCCAAAACATAAAAAGCCTCAGAGCAATGGTGGGCTTTTTTTTTTTTTTTTTTTAAATGGGAACTATGACTCCCATGTCCTTAGGTTGTTGTAAGGCTTAAATGAGTTAATACACTTACAACATTAGAACAGCGCCAGCATAAAGTAAAACTCAAAAATATTATTACTGTTAGTATTAAACATTGTTTTAACCCCTGGGGGAAGTTGCATGTCAGCAGCCGATGAAGTAATGTGTTTGCCTTTGCGGAGCCCTGGGGTCCTGGAATTTGCTTCCAGCTCTCTGACCATATCAGTTAGCATGGAGAGAAAGCAGATGGATGCAGGGCCGCCACACCCAGCTCTGTCCCTGAGTTCTGATACCATCTCAGGCTATCTGAACTTGTCCTGATGGAGAAGCCGAAATCTCCGCGATCAACCACTAGAGGGAAACAGAACCAATTAGAATGGCACCGGCCCCACATTCCATTCACACTGAACCGCCCTAGAGAACATTCCATCACAGGGTGTACACGCTGTTGTTCCTTCCTGGGGCTCTCCAAAGGACTTGAAGACTGTGTCACGTGGGTTCGCTGCCCCCTGCGAGGTCCGTGTCTGCTGCTCCTTGGGAAACCATGGCGGGCCGTGTTCTCCTCTCAGCAGATGGCGCTCGGGTCCCTTGGAGGAGAGTGGGGCGCCTGCGGAGCTGAGAGATCCGCGCAGAGCCCCTTTGCCTTCCCTGCCCTGACCTTCTGTTACCAGGCGGTTACTCCACAAGCCCCTCTAGAGACTGATTCTTTTTTCACTTTCTCCAGAACGACCACTAACCCTCATCAGCTGATGTTGAAGCCTGCCTAATGATTGGTAGGAAAAGGAATGTTCCTTGAAAATAGCAGGACTCGGCCTGGTGCGGTCGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTGTACTAAAAAAAAAAAAAAAAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTATGCACCTGTAGTCCCACCTACTTGGGAGGCTGAGGTGGGAGAATCGCTTGATCCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGCACCACTGCCCTCCAGCATGGGTAATGGTTACTATCTCAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAGAAAGGAAATAGGAGGACTCTATAGCTTCCATGCACATGATGACAGTGGCCATGACTTGATCACCACCATGGACTGTTGAGATGGGGGGAAAGACTCAAGGTGTGAGAAACAAGAGGCAACTGTGGTGCCTGGCTTTTGCCCCCGCTGAGCCATGACAACTTGGTGGCTTCAGGAAAGTCACTTCAACTCTCTGAATGAATGTCCACTTCCCCGGCACACAAAAGGGGCAATAAACGTATTCTACCTCCCCATCAAGAGAATACATATTAGTGATCTTTGAATACTGCAGAAAGCTTTTACACATTTTTGGGGCCGCAAATATTTGTCACTAAAATTTGTGGGAAAGAGTAGACAGCCGCTGATAGGGAAAGACTAAGCCAGGAAATGACAGGCTAGCATGGCAGCCAGCTTCTCTGCTGGAAGACTCACAAGGTGGTGGTTTTCCCAGCTCCATTGTGGCCCAGGAATGCGGTGATCTGGTTCTCGTAGAAGGTGATGTTCAGACGGTCCACAGCTGGCCGGCCACAGGGCTCAAAAATCTTTACCAGATTCTTCACGCATACCCCAGGAACCCACCCTGGATGCTCACGTTCAAAGAAGGAGTCTTGGAGGAAAAAAAATGAACATGATGTAAACATAATGCCTAATTACATGGCCCCAGGGCTCTGTCTCCAGGCCCTTGTATTCTGCCTATAACGTCACCTGCCCCTGTGGCTTCGGCTATCACCGTTGCAAGGAAGACTCCAGAATAATAATAGTAATACTAGCATCAAACGTTTATACAGCACCTCCTATATGCCAGGCACTGCTTCGACTGCTTTACACAAATTACCTCAATGTACTCTTACAATGGTCCTAAGGGGTAGACATTTATTAGGCTCATTTCCATAGTCCAGGAAACCTTAGACACAGAGACATCAAGCGTCCTATTAAGGACACATAGGCATGAGTGGCAGAGTTGGGATTTGAACCCAGAGCCCATGCTTGTCAGAATGCACTCACTGTCTATAGGGAGAGTTGGCCCCAAGCTCAACCTTGGTCCTAGGCCCTCATTGCCAACAGTCCACGGGGCATTTCCTCATGAATTTCTGGAAGCGGCTTAGGTTCTTCATCTTCCCAAAACAACATCTGCCTTCAGATTCTCCCATGACCTTTTCTGGACCGCCATTCTCTTAGTCACCTTGGCTTGAATCTTTGAGTTGACTTTGACTAAGGCTTCTTGCTCCTCAGAACTCCCAGGTTTTCCAATAGGTGGGTAGGGCAGTCCACGCTTCCTCATCACCATCCCTCAAACCCCACTCCCCTCCTTCTTCCTCCCATGCCCCCTCCAGTGCAGACCCTCACCGAGTGCTCTCACTTCTCCCTGACCTCCCATCTATCCCTGCTTCATTTCACCCTATATGGCACAGCTTAATTTGTCATCTTAATACTGTAGCTCTAAGCATTTCTTTCCCTAGGGGGAAAAAGTCCACTGTTTCTTCTATCCGTGCCTCCTGGCCTTGCCTGCAACTGAGGTGGAACCAGTCCCCAGCCTCCTGATTTGGCTTAGACTTTCCACTGTGGGAGGAGGATCTTGCCAGAGGCATGGTGTACTGCAGTCTAACTCTGGGAGGGGCTGCAGGTCTCTGGCTTTAGTTTTATGAAATGGCCCCTGGGGTGGGCTGGAGGGATAAAGGCCAGACCCTCTCCTGCCCTGTCAGGCAGAGCCCAGGGGCTGTGCTGCCTGTCTAAACCCAGAGCATTTTGGCCACAGAGAAATGCGTATGCTTAGGGAATGAAAAGCCTTGGGAGAAATACAGAACTAGTTTAAGAGAGAAGATGAGGGCAGCAAAAGCCAGGAAAACAAAACTTGTAAATCTGGGTCGTCAGTTTAGGGATTATTAGGTAACTTCCACTGTCAGGAAAGGCTTCTGATGGTTTCAATGAATGGCCTTCTAGATTTGTAAGCCGTAAGTGAAGTGTAGTCAGCTCCCCTGGAGTCTCTTTCCCCCTGGACACAGAAGCATTTATTTTTGTCTTTCCTTATAGCTCATATCCGCTTTAAGTCCCAGTGACCAAAGTTATTGTTCTTGCTAAATCCTCGGAAGTCAGCACATTTGTGCAACTCACTTGGGATTTGCCTAACAAGGGCACAGGCACACTACATAGTTGGTATTTGCTTTCTCCAGGAAATATGCGCTAATGTCTGGGCTGAACCATTCATTCCACACACATGCAGATGGACCTCTGAGAAGGGATCTGGTTTAACACTTGTCCACAGAGAGAGTCAGTTTCCTAGGCTTCTTTCCACCCTTGCCATGAGATGTTTTGCTCTGGCCCTCTGCAGTGCTTAGAGCCTTTTCCTCGCCTCTGCTGTGTATTCTTTATCGGGGTTTTACCGTGTATTCCTTCTGGGTGCTCTGGATCCTCCGTTTCCTCTGTTAGGGGCTCGGTCTTTTCCAGGGCTCTTTCTTCTCTGGTTGAACACCCTGCACCAATCAGAAGCCAGTGTTACTCTACCA
CTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGATCGAAGCCAGGCATGGGAATTACCACCACCAATATTAGCTTTGGATCCAAAACATAAAAAGCCTCAGAGCAATGGTGGGCTTTTTTTTTTTTTTTTTTTAAATGGGAACTATGACTCCCATGTCCTTAGGTTGTTGTAAGGCTTAAATGAGTTAATACACTTACAACATTAGAACAGCGCCAGCATAAAGTAAAACTCAAAAATATTATTACTGTTAGTATTAAACATTGTTTTAACCCCTGGGGGAAGTTGCATGTCAGCAGCCGATGAAGTAATGTGTTTGCCTTTGCGGAGCCCTGGGGTCCTGGAATTTGCTTCCAGCTCTCTGACCATATCAGTTAGCATGGAGAGAAAGCAGATGGATGCAGGGCCGCCACACCCAGCTCTGTCCCTGAGTTCTGATACCATCTCAGGCTATCTGAACTTGTCCTGATGGAGAAGCCGAAATCTCCGCGATCAACCACTAGAGGGAAACAGAACCAATTAGAATGGCACCGGCCCCACATTCCATTCACACTGAACCGCCCTAGAGAACATTCCATCACAGGGTGTACACGCTGTTGTTCCTTCCTGGGGCTCTCCAAAGGACTTGAAGACTGTGTCACGTGGGTTCGCTGCCCCCTGCGAGGTCCGTGTCTGCTGCTCCTTGGGAAACCATGGCGGGCCGTGTTCTCCTCTCAGCAGATGGCGCTCGGGTCCCTTGGAGGAGAGTGGGGCGCCTGCGGAGCTGAGAGATCCGCGCAGAGCCCCTTTGCCTTCCCTGCCCTGACCTTCTGTTACCAGGCGGTTACTCCACAAGCCCCTCTAGAGACTGATTCTTTTTTCACTTTCTCCAGAACGACCACTAACCCTCATCAGCTGATGTTGAAGCCTGCCTAATGATTGGTAGGAAAAGGAATGTTCCTTGAAAATAGCAGGACTCGGCCTGGTGCGGTCGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTGTACTAAAAAAAAAAAAAAAAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTATGCACCTGTAGTCCCACCTACTTGGGAGGCTGAGGTGGGAGAATCGCTTGATCCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGCACCACTGCCCTCCAGCATGGGTAATGGTTACTATCTCAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAGAAAGGAAATAGGAGGACTCTATAGCTTCCATGCACATGATGACAGTGGCCATGACTTGATCACCACCATGGACTGTTGAGATGGGGGGAAAGACTCAAGGTGTGAGAAACAAGAGGCAACTGTGGTGCCTGGCTTTTGCCCCCGCTGAGCCATGACAACTTGGTGGCTTCAGGAAAGTCACTTCAACTCTCTGAATGAATGTCCACTTCCCCGGCACACAAAAGGGGCAATAAACGTATTCTACCTCCCCATCAAGAGAATACATATTAGTGATCTTTGAATACTGCAGAAAGCTTTTACACATTTTTGGGGCCGCAAATATTTGTCACTAAAATTTGTGGGAAAGAGTAGACAGCCGCTGATAGGGAAAGACTAAGCCAGGAAATGACAGGCTAGCATGGCAGCCAGCTTCTCTGCTGGAAGACTCACAAGGTGGTGGTTTTCCCAGCTCCACTGTGGCCCAGGAATGCGGTGATCTGGTTCTCGTAGAAGGTGATGTTCAGACGGTCCACAGCTGGCCGGCCACAGGGCTCAAAAATCTTTACCAGATTCTTCACGCATACCCCAGGAACCCACCCTGGATGCTCACGTTCAAAGAAGGAGTCTTGGAGGAAAAAAAATGAACATGATGTAAACATAATGCCTAATTACATGGCCCCAGGGCTCTGTCTCCAGGCCCTTGTATTCTGCCTATAACGTCACCTGCCCCTGTGGCTTCGGCTATCACCGTTGCAAGGAAGACTCCAGAATAATAATAGTAATACTAGCATCAAACGTTTATACAGCACCTCCTATATGCCAGGCACTGCTTCGACTGCTTTACACAAATTACCTCAATGTACTCTTACAATGGTCCTAAGGGGTAGACATTTATTAGGCTCATTTCCATAGTCCAGGAAACCTTAGACACAGAGACATCAAGCGTCCTATTAAGGACACATAGGCATGAGTGGCAGAGTTGGGATTTGAACCCAGAGCCCATGCTTGTCAGAATGCACTCACTGTCTATAGGGAGAGTTGGCCCCAAGCTCAACCTTGGTCCTAGGCCCTCATTGCCAACAGTCCACGGGGCATTTCCTCATGAATTTCTGGAAGCGGCTTAGGTTCTTCATCTTCCCAAAACAACATCTGCCTTCAGATTCTCCCATGACCTTTTCTGGACCGCCATTCTCTTAGTCACCTTGGCTTGAATCTTTGAGTTGACTTTGACTAAGGCTTCTTGCTCCTCAGAACTCCCAGGTTTTCCAATAGGTGGGTAGGGCAGTCCACGCTTCCTCATCACCATCCCTCAAACCCCACTCCCCTCCTTCTTCCTCCCATGCCCCCTCCAGTGCAGACCCTCACCGAGTGCTCTCACTTCTCCCTGACCTCCCATCTATCCCTGCTTCATTTCACCCTATATGGCACAGCTTAATTTGTCATCTTAATACTGTAGCTCTAAGCATTTCTTTCCCTAGGGGGAAAAAGTCCACTGTTTCTTCTATCCGTGCCTCCTGGCCTTGCCTGCAACTGAGGTGGAACCAGTCCCCAGCCTCCTGATTTGGCTTAGACTTTCCACTGTGGGAGGAGGATCTTGCCAGAGGCATGGTGTACTGCAGTCTAACTCTGGGAGGGGCTGCAGGTCTCTGGCTTTAGTTTTATGAAATGGCCCCTGGGGTGGGCTGGAGGGATAAAGGCCAGACCCTCTCCTGCCCTGTCAGGCAGAGCCCAGGGGCTGTGCTGCCTGTCTAAACCCAGAGCATTTTGGCCACAGAGAAATGCGTATGCTTAGGGAATGAAAAGCCTTGGGAGAAATACAGAACTAGTTTAAGAGAGAAGATGAGGGCAGCAAAAGCCAGGAAAACAAAACTTGTAAATCTGGGTCGTCAGTTTAGGGATTATTAGGTAACTTCCACTGTCAGGAAAGGCTTCTGATGGTTTCAATGAATGGCCTTCTAGATTTGTAAGCCGTAAGTGAAGTGTAGTCAGCTCCCCTGGAGTCTCTTTCCCCCTGGACACAGAAGCATTTATTTTTGTCTTTCCTTATAGCTCATATCCGCTTTAAGTCCCAGTGACCAAAGTTATTGTTCTTGCTAAATCCTCGGAAGTCAGCACATTTGTGCAACTCACTTGGGATTTGCCTAACAAGGGCACAGGCACACTACATAGTTGGTATTTGCTTTCTCCAGGAAATATGCGCTAATGTCTGGGCTGAACCATTCATTCCACACACATGCAGATGGACCTCTGAGAAGGGATCTGGTTTAACACTTGTCCACAGAGAGAGTCAGTTTCCTAGGCTTCTTTCCACCCTTGCCATGAGATGTTTTGCTCTGGCCCTCTGCAGTGCTTAGAGCCTTTTCCTCGCCTCTGCTGTGTATTCTTTATCGGGGTTTTACCGTGTATTCCTTCTGGGTGCTCTGGATCCTCCGTTTCCTCTGTTAGGGGCTCGGTCTTTTCCAGGGCTCTTTCTTCTCTGGTTGAACACCCTGCACCAATCAGAAGCCAGTGTTACTCTACCA
Task1_train_1263
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.
Pathogenic; Retinal dystrophy
CTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGATCGAAGCCAGGCATGGGAATTACCACCACCAATATTAGCTTTGGATCCAAAACATAAAAAGCCTCAGAGCAATGGTGGGCTTTTTTTTTTTTTTTTTTTAAATGGGAACTATGACTCCCATGTCCTTAGGTTGTTGTAAGGCTTAAATGAGTTAATACACTTACAACATTAGAACAGCGCCAGCATAAAGTAAAACTCAAAAATATTATTACTGTTAGTATTAAACATTGTTTTAACCCCTGGGGGAAGTTGCATGTCAGCAGCCGATGAAGTAATGTGTTTGCCTTTGCGGAGCCCTGGGGTCCTGGAATTTGCTTCCAGCTCTCTGACCATATCAGTTAGCATGGAGAGAAAGCAGATGGATGCAGGGCCGCCACACCCAGCTCTGTCCCTGAGTTCTGATACCATCTCAGGCTATCTGAACTTGTCCTGATGGAGAAGCCGAAATCTCCGCGATCAACCACTAGAGGGAAACAGAACCAATTAGAATGGCACCGGCCCCACATTCCATTCACACTGAACCGCCCTAGAGAACATTCCATCACAGGGTGTACACGCTGTTGTTCCTTCCTGGGGCTCTCCAAAGGACTTGAAGACTGTGTCACGTGGGTTCGCTGCCCCCTGCGAGGTCCGTGTCTGCTGCTCCTTGGGAAACCATGGCGGGCCGTGTTCTCCTCTCAGCAGATGGCGCTCGGGTCCCTTGGAGGAGAGTGGGGCGCCTGCGGAGCTGAGAGATCCGCGCAGAGCCCCTTTGCCTTCCCTGCCCTGACCTTCTGTTACCAGGCGGTTACTCCACAAGCCCCTCTAGAGACTGATTCTTTTTTCACTTTCTCCAGAACGACCACTAACCCTCATCAGCTGATGTTGAAGCCTGCCTAATGATTGGTAGGAAAAGGAATGTTCCTTGAAAATAGCAGGACTCGGCCTGGTGCGGTCGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTGTACTAAAAAAAAAAAAAAAAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTATGCACCTGTAGTCCCACCTACTTGGGAGGCTGAGGTGGGAGAATCGCTTGATCCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGCACCACTGCCCTCCAGCATGGGTAATGGTTACTATCTCAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAGAAAGGAAATAGGAGGACTCTATAGCTTCCATGCACATGATGACAGTGGCCATGACTTGATCACCACCATGGACTGTTGAGATGGGGGGAAAGACTCAAGGTGTGAGAAACAAGAGGCAACTGTGGTGCCTGGCTTTTGCCCCCGCTGAGCCATGACAACTTGGTGGCTTCAGGAAAGTCACTTCAACTCTCTGAATGAATGTCCACTTCCCCGGCACACAAAAGGGGCAATAAACGTATTCTACCTCCCCATCAAGAGAATACATATTAGTGATCTTTGAATACTGCAGAAAGCTTTTACACATTTTTGGGGCCGCAAATATTTGTCACTAAAATTTGTGGGAAAGAGTAGACAGCCGCTGATAGGGAAAGACTAAGCCAGGAAATGACAGGCTAGCATGGCAGCCAGCTTCTCTGCTGGAAGACTCACAAGGTGGTGGTTTTCCCAGCTCCATTGTGGCCCAGGAATGCGGTGATCTGGTTCTCGTAGAAGGTGATGTTCAGACGGTCCACAGCTGGCCGGCCACAGGGCTCAAAAATCTTTACCAGATTCTTCACGCATACCCCAGGAACCCACCCTGGATGCTCACGTTCAAAGAAGGAGTCTTGGAGGAAAAAAAATGAACATGATGTAAACATAATGCCTAATTACATGGCCCCAGGGCTCTGTCTCCAGGCCCTTGTATTCTGCCTATAACGTCACCTGCCCCTGTGGCTTCGGCTATCACCGTTGCAAGGAAGACTCCAGAATAATAATAGTAATACTAGCATCAAACGTTTATACAGCACCTCCTATATGCCAGGCACTGCTTCGACTGCTTTACACAAATTACCTCAATGTACTCTTACAATGGTCCTAAGGGGTAGACATTTATTAGGCTCATTTCCATAGTCCAGGAAACCTTAGACACAGAGACATCAAGCGTCCTATTAAGGACACATAGGCATGAGTGGCAGAGTTGGGATTTGAACCCAGAGCCCATGCTTGTCAGAATGCACTCACTGTCTATAGGGAGAGTTGGCCCCAAGCTCAACCTTGGTCCTAGGCCCTCATTGCCAACAGTCCACGGGGCATTTCCTCATGAATTTCTGGAAGCGGCTTAGGTTCTTCATCTTCCCAAAACAACATCTGCCTTCAGATTCTCCCATGACCTTTTCTGGACCGCCATTCTCTTAGTCACCTTGGCTTGAATCTTTGAGTTGACTTTGACTAAGGCTTCTTGCTCCTCAGAACTCCCAGGTTTTCCAATAGGTGGGTAGGGCAGTCCACGCTTCCTCATCACCATCCCTCAAACCCCACTCCCCTCCTTCTTCCTCCCATGCCCCCTCCAGTGCAGACCCTCACCGAGTGCTCTCACTTCTCCCTGACCTCCCATCTATCCCTGCTTCATTTCACCCTATATGGCACAGCTTAATTTGTCATCTTAATACTGTAGCTCTAAGCATTTCTTTCCCTAGGGGGAAAAAGTCCACTGTTTCTTCTATCCGTGCCTCCTGGCCTTGCCTGCAACTGAGGTGGAACCAGTCCCCAGCCTCCTGATTTGGCTTAGACTTTCCACTGTGGGAGGAGGATCTTGCCAGAGGCATGGTGTACTGCAGTCTAACTCTGGGAGGGGCTGCAGGTCTCTGGCTTTAGTTTTATGAAATGGCCCCTGGGGTGGGCTGGAGGGATAAAGGCCAGACCCTCTCCTGCCCTGTCAGGCAGAGCCCAGGGGCTGTGCTGCCTGTCTAAACCCAGAGCATTTTGGCCACAGAGAAATGCGTATGCTTAGGGAATGAAAAGCCTTGGGAGAAATACAGAACTAGTTTAAGAGAGAAGATGAGGGCAGCAAAAGCCAGGAAAACAAAACTTGTAAATCTGGGTCGTCAGTTTAGGGATTATTAGGTAACTTCCACTGTCAGGAAAGGCTTCTGATGGTTTCAATGAATGGCCTTCTAGATTTGTAAGCCGTAAGTGAAGTGTAGTCAGCTCCCCTGGAGTCTCTTTCCCCCTGGACACAGAAGCATTTATTTTTGTCTTTCCTTATAGCTCATATCCGCTTTAAGTCCCAGTGACCAAAGTTATTGTTCTTGCTAAATCCTCGGAAGTCAGCACATTTGTGCAACTCACTTGGGATTTGCCTAACAAGGGCACAGGCACACTACATAGTTGGTATTTGCTTTCTCCAGGAAATATGCGCTAATGTCTGGGCTGAACCATTCATTCCACACACATGCAGATGGACCTCTGAGAAGGGATCTGGTTTAACACTTGTCCACAGAGAGAGTCAGTTTCCTAGGCTTCTTTCCACCCTTGCCATGAGATGTTTTGCTCTGGCCCTCTGCAGTGCTTAGAGCCTTTTCCTCGCCTCTGCTGTGTATTCTTTATCGGGGTTTTACCGTGTATTCCTTCTGGGTGCTCTGGATCCTCCGTTTCCTCTGTTAGGGGCTCGGTCTTTTCCAGGGCTCTTTCTTCTCTGGTTGAACACCCTGCACCAATCAGAAGCCAGTGTTACTCTACCA
CTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGATCGAAGCCAGGCATGGGAATTACCACCACCAATATTAGCTTTGGATCCAAAACATAAAAAGCCTCAGAGCAATGGTGGGCTTTTTTTTTTTTTTTTTTTAAATGGGAACTATGACTCCCATGTCCTTAGGTTGTTGTAAGGCTTAAATGAGTTAATACACTTACAACATTAGAACAGCGCCAGCATAAAGTAAAACTCAAAAATATTATTACTGTTAGTATTAAACATTGTTTTAACCCCTGGGGGAAGTTGCATGTCAGCAGCCGATGAAGTAATGTGTTTGCCTTTGCGGAGCCCTGGGGTCCTGGAATTTGCTTCCAGCTCTCTGACCATATCAGTTAGCATGGAGAGAAAGCAGATGGATGCAGGGCCGCCACACCCAGCTCTGTCCCTGAGTTCTGATACCATCTCAGGCTATCTGAACTTGTCCTGATGGAGAAGCCGAAATCTCCGCGATCAACCACTAGAGGGAAACAGAACCAATTAGAATGGCACCGGCCCCACATTCCATTCACACTGAACCGCCCTAGAGAACATTCCATCACAGGGTGTACACGCTGTTGTTCCTTCCTGGGGCTCTCCAAAGGACTTGAAGACTGTGTCACGTGGGTTCGCTGCCCCCTGCGAGGTCCGTGTCTGCTGCTCCTTGGGAAACCATGGCGGGCCGTGTTCTCCTCTCAGCAGATGGCGCTCGGGTCCCTTGGAGGAGAGTGGGGCGCCTGCGGAGCTGAGAGATCCGCGCAGAGCCCCTTTGCCTTCCCTGCCCTGACCTTCTGTTACCAGGCGGTTACTCCACAAGCCCCTCTAGAGACTGATTCTTTTTTCACTTTCTCCAGAACGACCACTAACCCTCATCAGCTGATGTTGAAGCCTGCCTAATGATTGGTAGGAAAAGGAATGTTCCTTGAAAATAGCAGGACTCGGCCTGGTGCGGTCGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTGTACTAAAAAAAAAAAAAAAAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTATGCACCTGTAGTCCCACCTACTTGGGAGGCTGAGGTGGGAGAATCGCTTGATCCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGCACCACTGCCCTCCAGCATGGGTAATGGTTACTATCTCAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAGAAAGGAAATAGGAGGACTCTATAGCTTCCATGCACATGATGACAGTGGCCATGACTTGATCACCACCATGGACTGTTGAGATGGGGGGAAAGACTCAAGGTGTGAGAAACAAGAGGCAACTGTGGTGCCTGGCTTTTGCCCCCGCTGAGCCATGACAACTTGGTGGCTTCAGGAAAGTCACTTCAACTCTCTGAATGAATGTCCACTTCCCCGGCACACAAAAGGGGCAATAAACGTATTCTACCTCCCCATCAAGAGAATACATATTAGTGATCTTTGAATACTGCAGAAAGCTTTTACACATTTTTGGGGCCGCAAATATTTGTCACTAAAATTTGTGGGAAAGAGTAGACAGCCGCTGATAGGGAAAGACTAAGCCAGGAAATGACAGGCTAGCATGGCAGCCAGCTTCTCTGCTGGAAGACTCACAAGGTGGTGGTTTTCCCAGCTCCACTGTGGCCCAGGAATGCGGTGATCTGGTTCTCGTAGAAGGTGATGTTCAGACGGTCCACAGCTGGCCGGCCACAGGGCTCAAAAATCTTTACCAGATTCTTCACGCATACCCCAGGAACCCACCCTGGATGCTCACGTTCAAAGAAGGAGTCTTGGAGGAAAAAAAATGAACATGATGTAAACATAATGCCTAATTACATGGCCCCAGGGCTCTGTCTCCAGGCCCTTGTATTCTGCCTATAACGTCACCTGCCCCTGTGGCTTCGGCTATCACCGTTGCAAGGAAGACTCCAGAATAATAATAGTAATACTAGCATCAAACGTTTATACAGCACCTCCTATATGCCAGGCACTGCTTCGACTGCTTTACACAAATTACCTCAATGTACTCTTACAATGGTCCTAAGGGGTAGACATTTATTAGGCTCATTTCCATAGTCCAGGAAACCTTAGACACAGAGACATCAAGCGTCCTATTAAGGACACATAGGCATGAGTGGCAGAGTTGGGATTTGAACCCAGAGCCCATGCTTGTCAGAATGCACTCACTGTCTATAGGGAGAGTTGGCCCCAAGCTCAACCTTGGTCCTAGGCCCTCATTGCCAACAGTCCACGGGGCATTTCCTCATGAATTTCTGGAAGCGGCTTAGGTTCTTCATCTTCCCAAAACAACATCTGCCTTCAGATTCTCCCATGACCTTTTCTGGACCGCCATTCTCTTAGTCACCTTGGCTTGAATCTTTGAGTTGACTTTGACTAAGGCTTCTTGCTCCTCAGAACTCCCAGGTTTTCCAATAGGTGGGTAGGGCAGTCCACGCTTCCTCATCACCATCCCTCAAACCCCACTCCCCTCCTTCTTCCTCCCATGCCCCCTCCAGTGCAGACCCTCACCGAGTGCTCTCACTTCTCCCTGACCTCCCATCTATCCCTGCTTCATTTCACCCTATATGGCACAGCTTAATTTGTCATCTTAATACTGTAGCTCTAAGCATTTCTTTCCCTAGGGGGAAAAAGTCCACTGTTTCTTCTATCCGTGCCTCCTGGCCTTGCCTGCAACTGAGGTGGAACCAGTCCCCAGCCTCCTGATTTGGCTTAGACTTTCCACTGTGGGAGGAGGATCTTGCCAGAGGCATGGTGTACTGCAGTCTAACTCTGGGAGGGGCTGCAGGTCTCTGGCTTTAGTTTTATGAAATGGCCCCTGGGGTGGGCTGGAGGGATAAAGGCCAGACCCTCTCCTGCCCTGTCAGGCAGAGCCCAGGGGCTGTGCTGCCTGTCTAAACCCAGAGCATTTTGGCCACAGAGAAATGCGTATGCTTAGGGAATGAAAAGCCTTGGGAGAAATACAGAACTAGTTTAAGAGAGAAGATGAGGGCAGCAAAAGCCAGGAAAACAAAACTTGTAAATCTGGGTCGTCAGTTTAGGGATTATTAGGTAACTTCCACTGTCAGGAAAGGCTTCTGATGGTTTCAATGAATGGCCTTCTAGATTTGTAAGCCGTAAGTGAAGTGTAGTCAGCTCCCCTGGAGTCTCTTTCCCCCTGGACACAGAAGCATTTATTTTTGTCTTTCCTTATAGCTCATATCCGCTTTAAGTCCCAGTGACCAAAGTTATTGTTCTTGCTAAATCCTCGGAAGTCAGCACATTTGTGCAACTCACTTGGGATTTGCCTAACAAGGGCACAGGCACACTACATAGTTGGTATTTGCTTTCTCCAGGAAATATGCGCTAATGTCTGGGCTGAACCATTCATTCCACACACATGCAGATGGACCTCTGAGAAGGGATCTGGTTTAACACTTGTCCACAGAGAGAGTCAGTTTCCTAGGCTTCTTTCCACCCTTGCCATGAGATGTTTTGCTCTGGCCCTCTGCAGTGCTTAGAGCCTTTTCCTCGCCTCTGCTGTGTATTCTTTATCGGGGTTTTACCGTGTATTCCTTCTGGGTGCTCTGGATCCTCCGTTTCCTCTGTTAGGGGCTCGGTCTTTTCCAGGGCTCTTTCTTCTCTGGTTGAACACCCTGCACCAATCAGAAGCCAGTGTTACTCTACCA
Task1_train_1264
The variant affects gene ABCA4 (ATP binding cassette subfamily A member 4), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Retinitis pigmentosa 19
CTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGATCGAAGCCAGGCATGGGAATTACCACCACCAATATTAGCTTTGGATCCAAAACATAAAAAGCCTCAGAGCAATGGTGGGCTTTTTTTTTTTTTTTTTTTAAATGGGAACTATGACTCCCATGTCCTTAGGTTGTTGTAAGGCTTAAATGAGTTAATACACTTACAACATTAGAACAGCGCCAGCATAAAGTAAAACTCAAAAATATTATTACTGTTAGTATTAAACATTGTTTTAACCCCTGGGGGAAGTTGCATGTCAGCAGCCGATGAAGTAATGTGTTTGCCTTTGCGGAGCCCTGGGGTCCTGGAATTTGCTTCCAGCTCTCTGACCATATCAGTTAGCATGGAGAGAAAGCAGATGGATGCAGGGCCGCCACACCCAGCTCTGTCCCTGAGTTCTGATACCATCTCAGGCTATCTGAACTTGTCCTGATGGAGAAGCCGAAATCTCCGCGATCAACCACTAGAGGGAAACAGAACCAATTAGAATGGCACCGGCCCCACATTCCATTCACACTGAACCGCCCTAGAGAACATTCCATCACAGGGTGTACACGCTGTTGTTCCTTCCTGGGGCTCTCCAAAGGACTTGAAGACTGTGTCACGTGGGTTCGCTGCCCCCTGCGAGGTCCGTGTCTGCTGCTCCTTGGGAAACCATGGCGGGCCGTGTTCTCCTCTCAGCAGATGGCGCTCGGGTCCCTTGGAGGAGAGTGGGGCGCCTGCGGAGCTGAGAGATCCGCGCAGAGCCCCTTTGCCTTCCCTGCCCTGACCTTCTGTTACCAGGCGGTTACTCCACAAGCCCCTCTAGAGACTGATTCTTTTTTCACTTTCTCCAGAACGACCACTAACCCTCATCAGCTGATGTTGAAGCCTGCCTAATGATTGGTAGGAAAAGGAATGTTCCTTGAAAATAGCAGGACTCGGCCTGGTGCGGTCGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTGTACTAAAAAAAAAAAAAAAAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTATGCACCTGTAGTCCCACCTACTTGGGAGGCTGAGGTGGGAGAATCGCTTGATCCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGCACCACTGCCCTCCAGCATGGGTAATGGTTACTATCTCAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAGAAAGGAAATAGGAGGACTCTATAGCTTCCATGCACATGATGACAGTGGCCATGACTTGATCACCACCATGGACTGTTGAGATGGGGGGAAAGACTCAAGGTGTGAGAAACAAGAGGCAACTGTGGTGCCTGGCTTTTGCCCCCGCTGAGCCATGACAACTTGGTGGCTTCAGGAAAGTCACTTCAACTCTCTGAATGAATGTCCACTTCCCCGGCACACAAAAGGGGCAATAAACGTATTCTACCTCCCCATCAAGAGAATACATATTAGTGATCTTTGAATACTGCAGAAAGCTTTTACACATTTTTGGGGCCGCAAATATTTGTCACTAAAATTTGTGGGAAAGAGTAGACAGCCGCTGATAGGGAAAGACTAAGCCAGGAAATGACAGGCTAGCATGGCAGCCAGCTTCTCTGCTGGAAGACTCACAAGGTGGTGGTTTTCCCAGCTCCATTGTGGCCCAGGAATGCGGTGATCTGGTTCTCGTAGAAGGTGATGTTCAGACGGTCCACAGCTGGCCGGCCACAGGGCTCAAAAATCTTTACCAGATTCTTCACGCATACCCCAGGAACCCACCCTGGATGCTCACGTTCAAAGAAGGAGTCTTGGAGGAAAAAAAATGAACATGATGTAAACATAATGCCTAATTACATGGCCCCAGGGCTCTGTCTCCAGGCCCTTGTATTCTGCCTATAACGTCACCTGCCCCTGTGGCTTCGGCTATCACCGTTGCAAGGAAGACTCCAGAATAATAATAGTAATACTAGCATCAAACGTTTATACAGCACCTCCTATATGCCAGGCACTGCTTCGACTGCTTTACACAAATTACCTCAATGTACTCTTACAATGGTCCTAAGGGGTAGACATTTATTAGGCTCATTTCCATAGTCCAGGAAACCTTAGACACAGAGACATCAAGCGTCCTATTAAGGACACATAGGCATGAGTGGCAGAGTTGGGATTTGAACCCAGAGCCCATGCTTGTCAGAATGCACTCACTGTCTATAGGGAGAGTTGGCCCCAAGCTCAACCTTGGTCCTAGGCCCTCATTGCCAACAGTCCACGGGGCATTTCCTCATGAATTTCTGGAAGCGGCTTAGGTTCTTCATCTTCCCAAAACAACATCTGCCTTCAGATTCTCCCATGACCTTTTCTGGACCGCCATTCTCTTAGTCACCTTGGCTTGAATCTTTGAGTTGACTTTGACTAAGGCTTCTTGCTCCTCAGAACTCCCAGGTTTTCCAATAGGTGGGTAGGGCAGTCCACGCTTCCTCATCACCATCCCTCAAACCCCACTCCCCTCCTTCTTCCTCCCATGCCCCCTCCAGTGCAGACCCTCACCGAGTGCTCTCACTTCTCCCTGACCTCCCATCTATCCCTGCTTCATTTCACCCTATATGGCACAGCTTAATTTGTCATCTTAATACTGTAGCTCTAAGCATTTCTTTCCCTAGGGGGAAAAAGTCCACTGTTTCTTCTATCCGTGCCTCCTGGCCTTGCCTGCAACTGAGGTGGAACCAGTCCCCAGCCTCCTGATTTGGCTTAGACTTTCCACTGTGGGAGGAGGATCTTGCCAGAGGCATGGTGTACTGCAGTCTAACTCTGGGAGGGGCTGCAGGTCTCTGGCTTTAGTTTTATGAAATGGCCCCTGGGGTGGGCTGGAGGGATAAAGGCCAGACCCTCTCCTGCCCTGTCAGGCAGAGCCCAGGGGCTGTGCTGCCTGTCTAAACCCAGAGCATTTTGGCCACAGAGAAATGCGTATGCTTAGGGAATGAAAAGCCTTGGGAGAAATACAGAACTAGTTTAAGAGAGAAGATGAGGGCAGCAAAAGCCAGGAAAACAAAACTTGTAAATCTGGGTCGTCAGTTTAGGGATTATTAGGTAACTTCCACTGTCAGGAAAGGCTTCTGATGGTTTCAATGAATGGCCTTCTAGATTTGTAAGCCGTAAGTGAAGTGTAGTCAGCTCCCCTGGAGTCTCTTTCCCCCTGGACACAGAAGCATTTATTTTTGTCTTTCCTTATAGCTCATATCCGCTTTAAGTCCCAGTGACCAAAGTTATTGTTCTTGCTAAATCCTCGGAAGTCAGCACATTTGTGCAACTCACTTGGGATTTGCCTAACAAGGGCACAGGCACACTACATAGTTGGTATTTGCTTTCTCCAGGAAATATGCGCTAATGTCTGGGCTGAACCATTCATTCCACACACATGCAGATGGACCTCTGAGAAGGGATCTGGTTTAACACTTGTCCACAGAGAGAGTCAGTTTCCTAGGCTTCTTTCCACCCTTGCCATGAGATGTTTTGCTCTGGCCCTCTGCAGTGCTTAGAGCCTTTTCCTCGCCTCTGCTGTGTATTCTTTATCGGGGTTTTACCGTGTATTCCTTCTGGGTGCTCTGGATCCTCCGTTTCCTCTGTTAGGGGCTCGGTCTTTTCCAGGGCTCTTTCTTCTCTGGTTGAACACCCTGCACCAATCAGAAGCCAGTGTTACTCTACCA
CTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGATCGAAGCCAGGCATGGGAATTACCACCACCAATATTAGCTTTGGATCCAAAACATAAAAAGCCTCAGAGCAATGGTGGGCTTTTTTTTTTTTTTTTTTTAAATGGGAACTATGACTCCCATGTCCTTAGGTTGTTGTAAGGCTTAAATGAGTTAATACACTTACAACATTAGAACAGCGCCAGCATAAAGTAAAACTCAAAAATATTATTACTGTTAGTATTAAACATTGTTTTAACCCCTGGGGGAAGTTGCATGTCAGCAGCCGATGAAGTAATGTGTTTGCCTTTGCGGAGCCCTGGGGTCCTGGAATTTGCTTCCAGCTCTCTGACCATATCAGTTAGCATGGAGAGAAAGCAGATGGATGCAGGGCCGCCACACCCAGCTCTGTCCCTGAGTTCTGATACCATCTCAGGCTATCTGAACTTGTCCTGATGGAGAAGCCGAAATCTCCGCGATCAACCACTAGAGGGAAACAGAACCAATTAGAATGGCACCGGCCCCACATTCCATTCACACTGAACCGCCCTAGAGAACATTCCATCACAGGGTGTACACGCTGTTGTTCCTTCCTGGGGCTCTCCAAAGGACTTGAAGACTGTGTCACGTGGGTTCGCTGCCCCCTGCGAGGTCCGTGTCTGCTGCTCCTTGGGAAACCATGGCGGGCCGTGTTCTCCTCTCAGCAGATGGCGCTCGGGTCCCTTGGAGGAGAGTGGGGCGCCTGCGGAGCTGAGAGATCCGCGCAGAGCCCCTTTGCCTTCCCTGCCCTGACCTTCTGTTACCAGGCGGTTACTCCACAAGCCCCTCTAGAGACTGATTCTTTTTTCACTTTCTCCAGAACGACCACTAACCCTCATCAGCTGATGTTGAAGCCTGCCTAATGATTGGTAGGAAAAGGAATGTTCCTTGAAAATAGCAGGACTCGGCCTGGTGCGGTCGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTGTACTAAAAAAAAAAAAAAAAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTATGCACCTGTAGTCCCACCTACTTGGGAGGCTGAGGTGGGAGAATCGCTTGATCCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGCACCACTGCCCTCCAGCATGGGTAATGGTTACTATCTCAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAGAAAGGAAATAGGAGGACTCTATAGCTTCCATGCACATGATGACAGTGGCCATGACTTGATCACCACCATGGACTGTTGAGATGGGGGGAAAGACTCAAGGTGTGAGAAACAAGAGGCAACTGTGGTGCCTGGCTTTTGCCCCCGCTGAGCCATGACAACTTGGTGGCTTCAGGAAAGTCACTTCAACTCTCTGAATGAATGTCCACTTCCCCGGCACACAAAAGGGGCAATAAACGTATTCTACCTCCCCATCAAGAGAATACATATTAGTGATCTTTGAATACTGCAGAAAGCTTTTACACATTTTTGGGGCCGCAAATATTTGTCACTAAAATTTGTGGGAAAGAGTAGACAGCCGCTGATAGGGAAAGACTAAGCCAGGAAATGACAGGCTAGCATGGCAGCCAGCTTCTCTGCTGGAAGACTCACAAGGTGGTGGTTTTCCCAGCTCCACTGTGGCCCAGGAATGCGGTGATCTGGTTCTCGTAGAAGGTGATGTTCAGACGGTCCACAGCTGGCCGGCCACAGGGCTCAAAAATCTTTACCAGATTCTTCACGCATACCCCAGGAACCCACCCTGGATGCTCACGTTCAAAGAAGGAGTCTTGGAGGAAAAAAAATGAACATGATGTAAACATAATGCCTAATTACATGGCCCCAGGGCTCTGTCTCCAGGCCCTTGTATTCTGCCTATAACGTCACCTGCCCCTGTGGCTTCGGCTATCACCGTTGCAAGGAAGACTCCAGAATAATAATAGTAATACTAGCATCAAACGTTTATACAGCACCTCCTATATGCCAGGCACTGCTTCGACTGCTTTACACAAATTACCTCAATGTACTCTTACAATGGTCCTAAGGGGTAGACATTTATTAGGCTCATTTCCATAGTCCAGGAAACCTTAGACACAGAGACATCAAGCGTCCTATTAAGGACACATAGGCATGAGTGGCAGAGTTGGGATTTGAACCCAGAGCCCATGCTTGTCAGAATGCACTCACTGTCTATAGGGAGAGTTGGCCCCAAGCTCAACCTTGGTCCTAGGCCCTCATTGCCAACAGTCCACGGGGCATTTCCTCATGAATTTCTGGAAGCGGCTTAGGTTCTTCATCTTCCCAAAACAACATCTGCCTTCAGATTCTCCCATGACCTTTTCTGGACCGCCATTCTCTTAGTCACCTTGGCTTGAATCTTTGAGTTGACTTTGACTAAGGCTTCTTGCTCCTCAGAACTCCCAGGTTTTCCAATAGGTGGGTAGGGCAGTCCACGCTTCCTCATCACCATCCCTCAAACCCCACTCCCCTCCTTCTTCCTCCCATGCCCCCTCCAGTGCAGACCCTCACCGAGTGCTCTCACTTCTCCCTGACCTCCCATCTATCCCTGCTTCATTTCACCCTATATGGCACAGCTTAATTTGTCATCTTAATACTGTAGCTCTAAGCATTTCTTTCCCTAGGGGGAAAAAGTCCACTGTTTCTTCTATCCGTGCCTCCTGGCCTTGCCTGCAACTGAGGTGGAACCAGTCCCCAGCCTCCTGATTTGGCTTAGACTTTCCACTGTGGGAGGAGGATCTTGCCAGAGGCATGGTGTACTGCAGTCTAACTCTGGGAGGGGCTGCAGGTCTCTGGCTTTAGTTTTATGAAATGGCCCCTGGGGTGGGCTGGAGGGATAAAGGCCAGACCCTCTCCTGCCCTGTCAGGCAGAGCCCAGGGGCTGTGCTGCCTGTCTAAACCCAGAGCATTTTGGCCACAGAGAAATGCGTATGCTTAGGGAATGAAAAGCCTTGGGAGAAATACAGAACTAGTTTAAGAGAGAAGATGAGGGCAGCAAAAGCCAGGAAAACAAAACTTGTAAATCTGGGTCGTCAGTTTAGGGATTATTAGGTAACTTCCACTGTCAGGAAAGGCTTCTGATGGTTTCAATGAATGGCCTTCTAGATTTGTAAGCCGTAAGTGAAGTGTAGTCAGCTCCCCTGGAGTCTCTTTCCCCCTGGACACAGAAGCATTTATTTTTGTCTTTCCTTATAGCTCATATCCGCTTTAAGTCCCAGTGACCAAAGTTATTGTTCTTGCTAAATCCTCGGAAGTCAGCACATTTGTGCAACTCACTTGGGATTTGCCTAACAAGGGCACAGGCACACTACATAGTTGGTATTTGCTTTCTCCAGGAAATATGCGCTAATGTCTGGGCTGAACCATTCATTCCACACACATGCAGATGGACCTCTGAGAAGGGATCTGGTTTAACACTTGTCCACAGAGAGAGTCAGTTTCCTAGGCTTCTTTCCACCCTTGCCATGAGATGTTTTGCTCTGGCCCTCTGCAGTGCTTAGAGCCTTTTCCTCGCCTCTGCTGTGTATTCTTTATCGGGGTTTTACCGTGTATTCCTTCTGGGTGCTCTGGATCCTCCGTTTCCTCTGTTAGGGGCTCGGTCTTTTCCAGGGCTCTTTCTTCTCTGGTTGAACACCCTGCACCAATCAGAAGCCAGTGTTACTCTACCA
Task1_train_1265
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.
Pathogenic; not provided
GCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGATCGAAGCCAGGCATGGGAATTACCACCACCAATATTAGCTTTGGATCCAAAACATAAAAAGCCTCAGAGCAATGGTGGGCTTTTTTTTTTTTTTTTTTTAAATGGGAACTATGACTCCCATGTCCTTAGGTTGTTGTAAGGCTTAAATGAGTTAATACACTTACAACATTAGAACAGCGCCAGCATAAAGTAAAACTCAAAAATATTATTACTGTTAGTATTAAACATTGTTTTAACCCCTGGGGGAAGTTGCATGTCAGCAGCCGATGAAGTAATGTGTTTGCCTTTGCGGAGCCCTGGGGTCCTGGAATTTGCTTCCAGCTCTCTGACCATATCAGTTAGCATGGAGAGAAAGCAGATGGATGCAGGGCCGCCACACCCAGCTCTGTCCCTGAGTTCTGATACCATCTCAGGCTATCTGAACTTGTCCTGATGGAGAAGCCGAAATCTCCGCGATCAACCACTAGAGGGAAACAGAACCAATTAGAATGGCACCGGCCCCACATTCCATTCACACTGAACCGCCCTAGAGAACATTCCATCACAGGGTGTACACGCTGTTGTTCCTTCCTGGGGCTCTCCAAAGGACTTGAAGACTGTGTCACGTGGGTTCGCTGCCCCCTGCGAGGTCCGTGTCTGCTGCTCCTTGGGAAACCATGGCGGGCCGTGTTCTCCTCTCAGCAGATGGCGCTCGGGTCCCTTGGAGGAGAGTGGGGCGCCTGCGGAGCTGAGAGATCCGCGCAGAGCCCCTTTGCCTTCCCTGCCCTGACCTTCTGTTACCAGGCGGTTACTCCACAAGCCCCTCTAGAGACTGATTCTTTTTTCACTTTCTCCAGAACGACCACTAACCCTCATCAGCTGATGTTGAAGCCTGCCTAATGATTGGTAGGAAAAGGAATGTTCCTTGAAAATAGCAGGACTCGGCCTGGTGCGGTCGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTGTACTAAAAAAAAAAAAAAAAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTATGCACCTGTAGTCCCACCTACTTGGGAGGCTGAGGTGGGAGAATCGCTTGATCCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGCACCACTGCCCTCCAGCATGGGTAATGGTTACTATCTCAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAGAAAGGAAATAGGAGGACTCTATAGCTTCCATGCACATGATGACAGTGGCCATGACTTGATCACCACCATGGACTGTTGAGATGGGGGGAAAGACTCAAGGTGTGAGAAACAAGAGGCAACTGTGGTGCCTGGCTTTTGCCCCCGCTGAGCCATGACAACTTGGTGGCTTCAGGAAAGTCACTTCAACTCTCTGAATGAATGTCCACTTCCCCGGCACACAAAAGGGGCAATAAACGTATTCTACCTCCCCATCAAGAGAATACATATTAGTGATCTTTGAATACTGCAGAAAGCTTTTACACATTTTTGGGGCCGCAAATATTTGTCACTAAAATTTGTGGGAAAGAGTAGACAGCCGCTGATAGGGAAAGACTAAGCCAGGAAATGACAGGCTAGCATGGCAGCCAGCTTCTCTGCTGGAAGACTCACAAGGTGGTGGTTTTCCCAGCTCCATTGTGGCCCAGGAATGCGGTGATCTGGTTCTCGTAGAAGGTGATGTTCAGACGGTCCACAGCTGGCCGGCCACAGGGCTCAAAAATCTTTACCAGATTCTTCACGCATACCCCAGGAACCCACCCTGGATGCTCACGTTCAAAGAAGGAGTCTTGGAGGAAAAAAAATGAACATGATGTAAACATAATGCCTAATTACATGGCCCCAGGGCTCTGTCTCCAGGCCCTTGTATTCTGCCTATAACGTCACCTGCCCCTGTGGCTTCGGCTATCACCGTTGCAAGGAAGACTCCAGAATAATAATAGTAATACTAGCATCAAACGTTTATACAGCACCTCCTATATGCCAGGCACTGCTTCGACTGCTTTACACAAATTACCTCAATGTACTCTTACAATGGTCCTAAGGGGTAGACATTTATTAGGCTCATTTCCATAGTCCAGGAAACCTTAGACACAGAGACATCAAGCGTCCTATTAAGGACACATAGGCATGAGTGGCAGAGTTGGGATTTGAACCCAGAGCCCATGCTTGTCAGAATGCACTCACTGTCTATAGGGAGAGTTGGCCCCAAGCTCAACCTTGGTCCTAGGCCCTCATTGCCAACAGTCCACGGGGCATTTCCTCATGAATTTCTGGAAGCGGCTTAGGTTCTTCATCTTCCCAAAACAACATCTGCCTTCAGATTCTCCCATGACCTTTTCTGGACCGCCATTCTCTTAGTCACCTTGGCTTGAATCTTTGAGTTGACTTTGACTAAGGCTTCTTGCTCCTCAGAACTCCCAGGTTTTCCAATAGGTGGGTAGGGCAGTCCACGCTTCCTCATCACCATCCCTCAAACCCCACTCCCCTCCTTCTTCCTCCCATGCCCCCTCCAGTGCAGACCCTCACCGAGTGCTCTCACTTCTCCCTGACCTCCCATCTATCCCTGCTTCATTTCACCCTATATGGCACAGCTTAATTTGTCATCTTAATACTGTAGCTCTAAGCATTTCTTTCCCTAGGGGGAAAAAGTCCACTGTTTCTTCTATCCGTGCCTCCTGGCCTTGCCTGCAACTGAGGTGGAACCAGTCCCCAGCCTCCTGATTTGGCTTAGACTTTCCACTGTGGGAGGAGGATCTTGCCAGAGGCATGGTGTACTGCAGTCTAACTCTGGGAGGGGCTGCAGGTCTCTGGCTTTAGTTTTATGAAATGGCCCCTGGGGTGGGCTGGAGGGATAAAGGCCAGACCCTCTCCTGCCCTGTCAGGCAGAGCCCAGGGGCTGTGCTGCCTGTCTAAACCCAGAGCATTTTGGCCACAGAGAAATGCGTATGCTTAGGGAATGAAAAGCCTTGGGAGAAATACAGAACTAGTTTAAGAGAGAAGATGAGGGCAGCAAAAGCCAGGAAAACAAAACTTGTAAATCTGGGTCGTCAGTTTAGGGATTATTAGGTAACTTCCACTGTCAGGAAAGGCTTCTGATGGTTTCAATGAATGGCCTTCTAGATTTGTAAGCCGTAAGTGAAGTGTAGTCAGCTCCCCTGGAGTCTCTTTCCCCCTGGACACAGAAGCATTTATTTTTGTCTTTCCTTATAGCTCATATCCGCTTTAAGTCCCAGTGACCAAAGTTATTGTTCTTGCTAAATCCTCGGAAGTCAGCACATTTGTGCAACTCACTTGGGATTTGCCTAACAAGGGCACAGGCACACTACATAGTTGGTATTTGCTTTCTCCAGGAAATATGCGCTAATGTCTGGGCTGAACCATTCATTCCACACACATGCAGATGGACCTCTGAGAAGGGATCTGGTTTAACACTTGTCCACAGAGAGAGTCAGTTTCCTAGGCTTCTTTCCACCCTTGCCATGAGATGTTTTGCTCTGGCCCTCTGCAGTGCTTAGAGCCTTTTCCTCGCCTCTGCTGTGTATTCTTTATCGGGGTTTTACCGTGTATTCCTTCTGGGTGCTCTGGATCCTCCGTTTCCTCTGTTAGGGGCTCGGTCTTTTCCAGGGCTCTTTCTTCTCTGGTTGAACACCCTGCACCAATCAGAAGCCAGTGTTACTCTACCACCGGGAGCTGAGAACGAGCAAAGG
GCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGATCGAAGCCAGGCATGGGAATTACCACCACCAATATTAGCTTTGGATCCAAAACATAAAAAGCCTCAGAGCAATGGTGGGCTTTTTTTTTTTTTTTTTTTAAATGGGAACTATGACTCCCATGTCCTTAGGTTGTTGTAAGGCTTAAATGAGTTAATACACTTACAACATTAGAACAGCGCCAGCATAAAGTAAAACTCAAAAATATTATTACTGTTAGTATTAAACATTGTTTTAACCCCTGGGGGAAGTTGCATGTCAGCAGCCGATGAAGTAATGTGTTTGCCTTTGCGGAGCCCTGGGGTCCTGGAATTTGCTTCCAGCTCTCTGACCATATCAGTTAGCATGGAGAGAAAGCAGATGGATGCAGGGCCGCCACACCCAGCTCTGTCCCTGAGTTCTGATACCATCTCAGGCTATCTGAACTTGTCCTGATGGAGAAGCCGAAATCTCCGCGATCAACCACTAGAGGGAAACAGAACCAATTAGAATGGCACCGGCCCCACATTCCATTCACACTGAACCGCCCTAGAGAACATTCCATCACAGGGTGTACACGCTGTTGTTCCTTCCTGGGGCTCTCCAAAGGACTTGAAGACTGTGTCACGTGGGTTCGCTGCCCCCTGCGAGGTCCGTGTCTGCTGCTCCTTGGGAAACCATGGCGGGCCGTGTTCTCCTCTCAGCAGATGGCGCTCGGGTCCCTTGGAGGAGAGTGGGGCGCCTGCGGAGCTGAGAGATCCGCGCAGAGCCCCTTTGCCTTCCCTGCCCTGACCTTCTGTTACCAGGCGGTTACTCCACAAGCCCCTCTAGAGACTGATTCTTTTTTCACTTTCTCCAGAACGACCACTAACCCTCATCAGCTGATGTTGAAGCCTGCCTAATGATTGGTAGGAAAAGGAATGTTCCTTGAAAATAGCAGGACTCGGCCTGGTGCGGTCGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTGTACTAAAAAAAAAAAAAAAAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTATGCACCTGTAGTCCCACCTACTTGGGAGGCTGAGGTGGGAGAATCGCTTGATCCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGCACCACTGCCCTCCAGCATGGGTAATGGTTACTATCTCAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAGAAAGGAAATAGGAGGACTCTATAGCTTCCATGCACATGATGACAGTGGCCATGACTTGATCACCACCATGGACTGTTGAGATGGGGGGAAAGACTCAAGGTGTGAGAAACAAGAGGCAACTGTGGTGCCTGGCTTTTGCCCCCGCTGAGCCATGACAACTTGGTGGCTTCAGGAAAGTCACTTCAACTCTCTGAATGAATGTCCACTTCCCCGGCACACAAAAGGGGCAATAAACGTATTCTACCTCCCCATCAAGAGAATACATATTAGTGATCTTTGAATACTGCAGAAAGCTTTTACACATTTTTGGGGCCGCAAATATTTGTCACTAAAATTTGTGGGAAAGAGTAGACAGCCGCTGATAGGGAAAGACTAAGCCAGGAAATGACAGGCTAGCATGGCAGCCAGCTTCTCTGCTGGAAGACTCACAAGGTGGTGGTTTTCCCAGCTCCATTGTGGCCCAGGAATGCGGTGATCGGGTTCTCGTAGAAGGTGATGTTCAGACGGTCCACAGCTGGCCGGCCACAGGGCTCAAAAATCTTTACCAGATTCTTCACGCATACCCCAGGAACCCACCCTGGATGCTCACGTTCAAAGAAGGAGTCTTGGAGGAAAAAAAATGAACATGATGTAAACATAATGCCTAATTACATGGCCCCAGGGCTCTGTCTCCAGGCCCTTGTATTCTGCCTATAACGTCACCTGCCCCTGTGGCTTCGGCTATCACCGTTGCAAGGAAGACTCCAGAATAATAATAGTAATACTAGCATCAAACGTTTATACAGCACCTCCTATATGCCAGGCACTGCTTCGACTGCTTTACACAAATTACCTCAATGTACTCTTACAATGGTCCTAAGGGGTAGACATTTATTAGGCTCATTTCCATAGTCCAGGAAACCTTAGACACAGAGACATCAAGCGTCCTATTAAGGACACATAGGCATGAGTGGCAGAGTTGGGATTTGAACCCAGAGCCCATGCTTGTCAGAATGCACTCACTGTCTATAGGGAGAGTTGGCCCCAAGCTCAACCTTGGTCCTAGGCCCTCATTGCCAACAGTCCACGGGGCATTTCCTCATGAATTTCTGGAAGCGGCTTAGGTTCTTCATCTTCCCAAAACAACATCTGCCTTCAGATTCTCCCATGACCTTTTCTGGACCGCCATTCTCTTAGTCACCTTGGCTTGAATCTTTGAGTTGACTTTGACTAAGGCTTCTTGCTCCTCAGAACTCCCAGGTTTTCCAATAGGTGGGTAGGGCAGTCCACGCTTCCTCATCACCATCCCTCAAACCCCACTCCCCTCCTTCTTCCTCCCATGCCCCCTCCAGTGCAGACCCTCACCGAGTGCTCTCACTTCTCCCTGACCTCCCATCTATCCCTGCTTCATTTCACCCTATATGGCACAGCTTAATTTGTCATCTTAATACTGTAGCTCTAAGCATTTCTTTCCCTAGGGGGAAAAAGTCCACTGTTTCTTCTATCCGTGCCTCCTGGCCTTGCCTGCAACTGAGGTGGAACCAGTCCCCAGCCTCCTGATTTGGCTTAGACTTTCCACTGTGGGAGGAGGATCTTGCCAGAGGCATGGTGTACTGCAGTCTAACTCTGGGAGGGGCTGCAGGTCTCTGGCTTTAGTTTTATGAAATGGCCCCTGGGGTGGGCTGGAGGGATAAAGGCCAGACCCTCTCCTGCCCTGTCAGGCAGAGCCCAGGGGCTGTGCTGCCTGTCTAAACCCAGAGCATTTTGGCCACAGAGAAATGCGTATGCTTAGGGAATGAAAAGCCTTGGGAGAAATACAGAACTAGTTTAAGAGAGAAGATGAGGGCAGCAAAAGCCAGGAAAACAAAACTTGTAAATCTGGGTCGTCAGTTTAGGGATTATTAGGTAACTTCCACTGTCAGGAAAGGCTTCTGATGGTTTCAATGAATGGCCTTCTAGATTTGTAAGCCGTAAGTGAAGTGTAGTCAGCTCCCCTGGAGTCTCTTTCCCCCTGGACACAGAAGCATTTATTTTTGTCTTTCCTTATAGCTCATATCCGCTTTAAGTCCCAGTGACCAAAGTTATTGTTCTTGCTAAATCCTCGGAAGTCAGCACATTTGTGCAACTCACTTGGGATTTGCCTAACAAGGGCACAGGCACACTACATAGTTGGTATTTGCTTTCTCCAGGAAATATGCGCTAATGTCTGGGCTGAACCATTCATTCCACACACATGCAGATGGACCTCTGAGAAGGGATCTGGTTTAACACTTGTCCACAGAGAGAGTCAGTTTCCTAGGCTTCTTTCCACCCTTGCCATGAGATGTTTTGCTCTGGCCCTCTGCAGTGCTTAGAGCCTTTTCCTCGCCTCTGCTGTGTATTCTTTATCGGGGTTTTACCGTGTATTCCTTCTGGGTGCTCTGGATCCTCCGTTTCCTCTGTTAGGGGCTCGGTCTTTTCCAGGGCTCTTTCTTCTCTGGTTGAACACCCTGCACCAATCAGAAGCCAGTGTTACTCTACCACCGGGAGCTGAGAACGAGCAAAGG
Task1_train_1266
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.
Pathogenic; not provided
ATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGATCGAAGCCAGGCATGGGAATTACCACCACCAATATTAGCTTTGGATCCAAAACATAAAAAGCCTCAGAGCAATGGTGGGCTTTTTTTTTTTTTTTTTTTAAATGGGAACTATGACTCCCATGTCCTTAGGTTGTTGTAAGGCTTAAATGAGTTAATACACTTACAACATTAGAACAGCGCCAGCATAAAGTAAAACTCAAAAATATTATTACTGTTAGTATTAAACATTGTTTTAACCCCTGGGGGAAGTTGCATGTCAGCAGCCGATGAAGTAATGTGTTTGCCTTTGCGGAGCCCTGGGGTCCTGGAATTTGCTTCCAGCTCTCTGACCATATCAGTTAGCATGGAGAGAAAGCAGATGGATGCAGGGCCGCCACACCCAGCTCTGTCCCTGAGTTCTGATACCATCTCAGGCTATCTGAACTTGTCCTGATGGAGAAGCCGAAATCTCCGCGATCAACCACTAGAGGGAAACAGAACCAATTAGAATGGCACCGGCCCCACATTCCATTCACACTGAACCGCCCTAGAGAACATTCCATCACAGGGTGTACACGCTGTTGTTCCTTCCTGGGGCTCTCCAAAGGACTTGAAGACTGTGTCACGTGGGTTCGCTGCCCCCTGCGAGGTCCGTGTCTGCTGCTCCTTGGGAAACCATGGCGGGCCGTGTTCTCCTCTCAGCAGATGGCGCTCGGGTCCCTTGGAGGAGAGTGGGGCGCCTGCGGAGCTGAGAGATCCGCGCAGAGCCCCTTTGCCTTCCCTGCCCTGACCTTCTGTTACCAGGCGGTTACTCCACAAGCCCCTCTAGAGACTGATTCTTTTTTCACTTTCTCCAGAACGACCACTAACCCTCATCAGCTGATGTTGAAGCCTGCCTAATGATTGGTAGGAAAAGGAATGTTCCTTGAAAATAGCAGGACTCGGCCTGGTGCGGTCGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTGTACTAAAAAAAAAAAAAAAAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTATGCACCTGTAGTCCCACCTACTTGGGAGGCTGAGGTGGGAGAATCGCTTGATCCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGCACCACTGCCCTCCAGCATGGGTAATGGTTACTATCTCAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAGAAAGGAAATAGGAGGACTCTATAGCTTCCATGCACATGATGACAGTGGCCATGACTTGATCACCACCATGGACTGTTGAGATGGGGGGAAAGACTCAAGGTGTGAGAAACAAGAGGCAACTGTGGTGCCTGGCTTTTGCCCCCGCTGAGCCATGACAACTTGGTGGCTTCAGGAAAGTCACTTCAACTCTCTGAATGAATGTCCACTTCCCCGGCACACAAAAGGGGCAATAAACGTATTCTACCTCCCCATCAAGAGAATACATATTAGTGATCTTTGAATACTGCAGAAAGCTTTTACACATTTTTGGGGCCGCAAATATTTGTCACTAAAATTTGTGGGAAAGAGTAGACAGCCGCTGATAGGGAAAGACTAAGCCAGGAAATGACAGGCTAGCATGGCAGCCAGCTTCTCTGCTGGAAGACTCACAAGGTGGTGGTTTTCCCAGCTCCATTGTGGCCCAGGAATGCGGTGATCTGGTTCTCGTAGAAGGTGATGTTCAGACGGTCCACAGCTGGCCGGCCACAGGGCTCAAAAATCTTTACCAGATTCTTCACGCATACCCCAGGAACCCACCCTGGATGCTCACGTTCAAAGAAGGAGTCTTGGAGGAAAAAAAATGAACATGATGTAAACATAATGCCTAATTACATGGCCCCAGGGCTCTGTCTCCAGGCCCTTGTATTCTGCCTATAACGTCACCTGCCCCTGTGGCTTCGGCTATCACCGTTGCAAGGAAGACTCCAGAATAATAATAGTAATACTAGCATCAAACGTTTATACAGCACCTCCTATATGCCAGGCACTGCTTCGACTGCTTTACACAAATTACCTCAATGTACTCTTACAATGGTCCTAAGGGGTAGACATTTATTAGGCTCATTTCCATAGTCCAGGAAACCTTAGACACAGAGACATCAAGCGTCCTATTAAGGACACATAGGCATGAGTGGCAGAGTTGGGATTTGAACCCAGAGCCCATGCTTGTCAGAATGCACTCACTGTCTATAGGGAGAGTTGGCCCCAAGCTCAACCTTGGTCCTAGGCCCTCATTGCCAACAGTCCACGGGGCATTTCCTCATGAATTTCTGGAAGCGGCTTAGGTTCTTCATCTTCCCAAAACAACATCTGCCTTCAGATTCTCCCATGACCTTTTCTGGACCGCCATTCTCTTAGTCACCTTGGCTTGAATCTTTGAGTTGACTTTGACTAAGGCTTCTTGCTCCTCAGAACTCCCAGGTTTTCCAATAGGTGGGTAGGGCAGTCCACGCTTCCTCATCACCATCCCTCAAACCCCACTCCCCTCCTTCTTCCTCCCATGCCCCCTCCAGTGCAGACCCTCACCGAGTGCTCTCACTTCTCCCTGACCTCCCATCTATCCCTGCTTCATTTCACCCTATATGGCACAGCTTAATTTGTCATCTTAATACTGTAGCTCTAAGCATTTCTTTCCCTAGGGGGAAAAAGTCCACTGTTTCTTCTATCCGTGCCTCCTGGCCTTGCCTGCAACTGAGGTGGAACCAGTCCCCAGCCTCCTGATTTGGCTTAGACTTTCCACTGTGGGAGGAGGATCTTGCCAGAGGCATGGTGTACTGCAGTCTAACTCTGGGAGGGGCTGCAGGTCTCTGGCTTTAGTTTTATGAAATGGCCCCTGGGGTGGGCTGGAGGGATAAAGGCCAGACCCTCTCCTGCCCTGTCAGGCAGAGCCCAGGGGCTGTGCTGCCTGTCTAAACCCAGAGCATTTTGGCCACAGAGAAATGCGTATGCTTAGGGAATGAAAAGCCTTGGGAGAAATACAGAACTAGTTTAAGAGAGAAGATGAGGGCAGCAAAAGCCAGGAAAACAAAACTTGTAAATCTGGGTCGTCAGTTTAGGGATTATTAGGTAACTTCCACTGTCAGGAAAGGCTTCTGATGGTTTCAATGAATGGCCTTCTAGATTTGTAAGCCGTAAGTGAAGTGTAGTCAGCTCCCCTGGAGTCTCTTTCCCCCTGGACACAGAAGCATTTATTTTTGTCTTTCCTTATAGCTCATATCCGCTTTAAGTCCCAGTGACCAAAGTTATTGTTCTTGCTAAATCCTCGGAAGTCAGCACATTTGTGCAACTCACTTGGGATTTGCCTAACAAGGGCACAGGCACACTACATAGTTGGTATTTGCTTTCTCCAGGAAATATGCGCTAATGTCTGGGCTGAACCATTCATTCCACACACATGCAGATGGACCTCTGAGAAGGGATCTGGTTTAACACTTGTCCACAGAGAGAGTCAGTTTCCTAGGCTTCTTTCCACCCTTGCCATGAGATGTTTTGCTCTGGCCCTCTGCAGTGCTTAGAGCCTTTTCCTCGCCTCTGCTGTGTATTCTTTATCGGGGTTTTACCGTGTATTCCTTCTGGGTGCTCTGGATCCTCCGTTTCCTCTGTTAGGGGCTCGGTCTTTTCCAGGGCTCTTTCTTCTCTGGTTGAACACCCTGCACCAATCAGAAGCCAGTGTTACTCTACCACCGGGAGCTGAGAACGAGCAAAGGCAGGAA
ATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGATCGAAGCCAGGCATGGGAATTACCACCACCAATATTAGCTTTGGATCCAAAACATAAAAAGCCTCAGAGCAATGGTGGGCTTTTTTTTTTTTTTTTTTTAAATGGGAACTATGACTCCCATGTCCTTAGGTTGTTGTAAGGCTTAAATGAGTTAATACACTTACAACATTAGAACAGCGCCAGCATAAAGTAAAACTCAAAAATATTATTACTGTTAGTATTAAACATTGTTTTAACCCCTGGGGGAAGTTGCATGTCAGCAGCCGATGAAGTAATGTGTTTGCCTTTGCGGAGCCCTGGGGTCCTGGAATTTGCTTCCAGCTCTCTGACCATATCAGTTAGCATGGAGAGAAAGCAGATGGATGCAGGGCCGCCACACCCAGCTCTGTCCCTGAGTTCTGATACCATCTCAGGCTATCTGAACTTGTCCTGATGGAGAAGCCGAAATCTCCGCGATCAACCACTAGAGGGAAACAGAACCAATTAGAATGGCACCGGCCCCACATTCCATTCACACTGAACCGCCCTAGAGAACATTCCATCACAGGGTGTACACGCTGTTGTTCCTTCCTGGGGCTCTCCAAAGGACTTGAAGACTGTGTCACGTGGGTTCGCTGCCCCCTGCGAGGTCCGTGTCTGCTGCTCCTTGGGAAACCATGGCGGGCCGTGTTCTCCTCTCAGCAGATGGCGCTCGGGTCCCTTGGAGGAGAGTGGGGCGCCTGCGGAGCTGAGAGATCCGCGCAGAGCCCCTTTGCCTTCCCTGCCCTGACCTTCTGTTACCAGGCGGTTACTCCACAAGCCCCTCTAGAGACTGATTCTTTTTTCACTTTCTCCAGAACGACCACTAACCCTCATCAGCTGATGTTGAAGCCTGCCTAATGATTGGTAGGAAAAGGAATGTTCCTTGAAAATAGCAGGACTCGGCCTGGTGCGGTCGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTGTACTAAAAAAAAAAAAAAAAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTATGCACCTGTAGTCCCACCTACTTGGGAGGCTGAGGTGGGAGAATCGCTTGATCCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGCACCACTGCCCTCCAGCATGGGTAATGGTTACTATCTCAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAGAAAGGAAATAGGAGGACTCTATAGCTTCCATGCACATGATGACAGTGGCCATGACTTGATCACCACCATGGACTGTTGAGATGGGGGGAAAGACTCAAGGTGTGAGAAACAAGAGGCAACTGTGGTGCCTGGCTTTTGCCCCCGCTGAGCCATGACAACTTGGTGGCTTCAGGAAAGTCACTTCAACTCTCTGAATGAATGTCCACTTCCCCGGCACACAAAAGGGGCAATAAACGTATTCTACCTCCCCATCAAGAGAATACATATTAGTGATCTTTGAATACTGCAGAAAGCTTTTACACATTTTTGGGGCCGCAAATATTTGTCACTAAAATTTGTGGGAAAGAGTAGACAGCCGCTGATAGGGAAAGACTAAGCCAGGAAATGACAGGCTAGCATGGCAGCCAGCTTCTCTGCTGGAAGACTCACAAGGTGGTGGTTTTCCCAGCTCCATTGTGGCCCAGGAATGCGGTGATCTGGTTCCCGTAGAAGGTGATGTTCAGACGGTCCACAGCTGGCCGGCCACAGGGCTCAAAAATCTTTACCAGATTCTTCACGCATACCCCAGGAACCCACCCTGGATGCTCACGTTCAAAGAAGGAGTCTTGGAGGAAAAAAAATGAACATGATGTAAACATAATGCCTAATTACATGGCCCCAGGGCTCTGTCTCCAGGCCCTTGTATTCTGCCTATAACGTCACCTGCCCCTGTGGCTTCGGCTATCACCGTTGCAAGGAAGACTCCAGAATAATAATAGTAATACTAGCATCAAACGTTTATACAGCACCTCCTATATGCCAGGCACTGCTTCGACTGCTTTACACAAATTACCTCAATGTACTCTTACAATGGTCCTAAGGGGTAGACATTTATTAGGCTCATTTCCATAGTCCAGGAAACCTTAGACACAGAGACATCAAGCGTCCTATTAAGGACACATAGGCATGAGTGGCAGAGTTGGGATTTGAACCCAGAGCCCATGCTTGTCAGAATGCACTCACTGTCTATAGGGAGAGTTGGCCCCAAGCTCAACCTTGGTCCTAGGCCCTCATTGCCAACAGTCCACGGGGCATTTCCTCATGAATTTCTGGAAGCGGCTTAGGTTCTTCATCTTCCCAAAACAACATCTGCCTTCAGATTCTCCCATGACCTTTTCTGGACCGCCATTCTCTTAGTCACCTTGGCTTGAATCTTTGAGTTGACTTTGACTAAGGCTTCTTGCTCCTCAGAACTCCCAGGTTTTCCAATAGGTGGGTAGGGCAGTCCACGCTTCCTCATCACCATCCCTCAAACCCCACTCCCCTCCTTCTTCCTCCCATGCCCCCTCCAGTGCAGACCCTCACCGAGTGCTCTCACTTCTCCCTGACCTCCCATCTATCCCTGCTTCATTTCACCCTATATGGCACAGCTTAATTTGTCATCTTAATACTGTAGCTCTAAGCATTTCTTTCCCTAGGGGGAAAAAGTCCACTGTTTCTTCTATCCGTGCCTCCTGGCCTTGCCTGCAACTGAGGTGGAACCAGTCCCCAGCCTCCTGATTTGGCTTAGACTTTCCACTGTGGGAGGAGGATCTTGCCAGAGGCATGGTGTACTGCAGTCTAACTCTGGGAGGGGCTGCAGGTCTCTGGCTTTAGTTTTATGAAATGGCCCCTGGGGTGGGCTGGAGGGATAAAGGCCAGACCCTCTCCTGCCCTGTCAGGCAGAGCCCAGGGGCTGTGCTGCCTGTCTAAACCCAGAGCATTTTGGCCACAGAGAAATGCGTATGCTTAGGGAATGAAAAGCCTTGGGAGAAATACAGAACTAGTTTAAGAGAGAAGATGAGGGCAGCAAAAGCCAGGAAAACAAAACTTGTAAATCTGGGTCGTCAGTTTAGGGATTATTAGGTAACTTCCACTGTCAGGAAAGGCTTCTGATGGTTTCAATGAATGGCCTTCTAGATTTGTAAGCCGTAAGTGAAGTGTAGTCAGCTCCCCTGGAGTCTCTTTCCCCCTGGACACAGAAGCATTTATTTTTGTCTTTCCTTATAGCTCATATCCGCTTTAAGTCCCAGTGACCAAAGTTATTGTTCTTGCTAAATCCTCGGAAGTCAGCACATTTGTGCAACTCACTTGGGATTTGCCTAACAAGGGCACAGGCACACTACATAGTTGGTATTTGCTTTCTCCAGGAAATATGCGCTAATGTCTGGGCTGAACCATTCATTCCACACACATGCAGATGGACCTCTGAGAAGGGATCTGGTTTAACACTTGTCCACAGAGAGAGTCAGTTTCCTAGGCTTCTTTCCACCCTTGCCATGAGATGTTTTGCTCTGGCCCTCTGCAGTGCTTAGAGCCTTTTCCTCGCCTCTGCTGTGTATTCTTTATCGGGGTTTTACCGTGTATTCCTTCTGGGTGCTCTGGATCCTCCGTTTCCTCTGTTAGGGGCTCGGTCTTTTCCAGGGCTCTTTCTTCTCTGGTTGAACACCCTGCACCAATCAGAAGCCAGTGTTACTCTACCACCGGGAGCTGAGAACGAGCAAAGGCAGGAA
Task1_train_1267
A sequence alteration has been identified in ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Is it disease-inducing or harmless?
Pathogenic; Severe early-childhood-onset retinal dystrophy
CCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGATCGAAGCCAGGCATGGGAATTACCACCACCAATATTAGCTTTGGATCCAAAACATAAAAAGCCTCAGAGCAATGGTGGGCTTTTTTTTTTTTTTTTTTTAAATGGGAACTATGACTCCCATGTCCTTAGGTTGTTGTAAGGCTTAAATGAGTTAATACACTTACAACATTAGAACAGCGCCAGCATAAAGTAAAACTCAAAAATATTATTACTGTTAGTATTAAACATTGTTTTAACCCCTGGGGGAAGTTGCATGTCAGCAGCCGATGAAGTAATGTGTTTGCCTTTGCGGAGCCCTGGGGTCCTGGAATTTGCTTCCAGCTCTCTGACCATATCAGTTAGCATGGAGAGAAAGCAGATGGATGCAGGGCCGCCACACCCAGCTCTGTCCCTGAGTTCTGATACCATCTCAGGCTATCTGAACTTGTCCTGATGGAGAAGCCGAAATCTCCGCGATCAACCACTAGAGGGAAACAGAACCAATTAGAATGGCACCGGCCCCACATTCCATTCACACTGAACCGCCCTAGAGAACATTCCATCACAGGGTGTACACGCTGTTGTTCCTTCCTGGGGCTCTCCAAAGGACTTGAAGACTGTGTCACGTGGGTTCGCTGCCCCCTGCGAGGTCCGTGTCTGCTGCTCCTTGGGAAACCATGGCGGGCCGTGTTCTCCTCTCAGCAGATGGCGCTCGGGTCCCTTGGAGGAGAGTGGGGCGCCTGCGGAGCTGAGAGATCCGCGCAGAGCCCCTTTGCCTTCCCTGCCCTGACCTTCTGTTACCAGGCGGTTACTCCACAAGCCCCTCTAGAGACTGATTCTTTTTTCACTTTCTCCAGAACGACCACTAACCCTCATCAGCTGATGTTGAAGCCTGCCTAATGATTGGTAGGAAAAGGAATGTTCCTTGAAAATAGCAGGACTCGGCCTGGTGCGGTCGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTGTACTAAAAAAAAAAAAAAAAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTATGCACCTGTAGTCCCACCTACTTGGGAGGCTGAGGTGGGAGAATCGCTTGATCCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGCACCACTGCCCTCCAGCATGGGTAATGGTTACTATCTCAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAGAAAGGAAATAGGAGGACTCTATAGCTTCCATGCACATGATGACAGTGGCCATGACTTGATCACCACCATGGACTGTTGAGATGGGGGGAAAGACTCAAGGTGTGAGAAACAAGAGGCAACTGTGGTGCCTGGCTTTTGCCCCCGCTGAGCCATGACAACTTGGTGGCTTCAGGAAAGTCACTTCAACTCTCTGAATGAATGTCCACTTCCCCGGCACACAAAAGGGGCAATAAACGTATTCTACCTCCCCATCAAGAGAATACATATTAGTGATCTTTGAATACTGCAGAAAGCTTTTACACATTTTTGGGGCCGCAAATATTTGTCACTAAAATTTGTGGGAAAGAGTAGACAGCCGCTGATAGGGAAAGACTAAGCCAGGAAATGACAGGCTAGCATGGCAGCCAGCTTCTCTGCTGGAAGACTCACAAGGTGGTGGTTTTCCCAGCTCCATTGTGGCCCAGGAATGCGGTGATCTGGTTCTCGTAGAAGGTGATGTTCAGACGGTCCACAGCTGGCCGGCCACAGGGCTCAAAAATCTTTACCAGATTCTTCACGCATACCCCAGGAACCCACCCTGGATGCTCACGTTCAAAGAAGGAGTCTTGGAGGAAAAAAAATGAACATGATGTAAACATAATGCCTAATTACATGGCCCCAGGGCTCTGTCTCCAGGCCCTTGTATTCTGCCTATAACGTCACCTGCCCCTGTGGCTTCGGCTATCACCGTTGCAAGGAAGACTCCAGAATAATAATAGTAATACTAGCATCAAACGTTTATACAGCACCTCCTATATGCCAGGCACTGCTTCGACTGCTTTACACAAATTACCTCAATGTACTCTTACAATGGTCCTAAGGGGTAGACATTTATTAGGCTCATTTCCATAGTCCAGGAAACCTTAGACACAGAGACATCAAGCGTCCTATTAAGGACACATAGGCATGAGTGGCAGAGTTGGGATTTGAACCCAGAGCCCATGCTTGTCAGAATGCACTCACTGTCTATAGGGAGAGTTGGCCCCAAGCTCAACCTTGGTCCTAGGCCCTCATTGCCAACAGTCCACGGGGCATTTCCTCATGAATTTCTGGAAGCGGCTTAGGTTCTTCATCTTCCCAAAACAACATCTGCCTTCAGATTCTCCCATGACCTTTTCTGGACCGCCATTCTCTTAGTCACCTTGGCTTGAATCTTTGAGTTGACTTTGACTAAGGCTTCTTGCTCCTCAGAACTCCCAGGTTTTCCAATAGGTGGGTAGGGCAGTCCACGCTTCCTCATCACCATCCCTCAAACCCCACTCCCCTCCTTCTTCCTCCCATGCCCCCTCCAGTGCAGACCCTCACCGAGTGCTCTCACTTCTCCCTGACCTCCCATCTATCCCTGCTTCATTTCACCCTATATGGCACAGCTTAATTTGTCATCTTAATACTGTAGCTCTAAGCATTTCTTTCCCTAGGGGGAAAAAGTCCACTGTTTCTTCTATCCGTGCCTCCTGGCCTTGCCTGCAACTGAGGTGGAACCAGTCCCCAGCCTCCTGATTTGGCTTAGACTTTCCACTGTGGGAGGAGGATCTTGCCAGAGGCATGGTGTACTGCAGTCTAACTCTGGGAGGGGCTGCAGGTCTCTGGCTTTAGTTTTATGAAATGGCCCCTGGGGTGGGCTGGAGGGATAAAGGCCAGACCCTCTCCTGCCCTGTCAGGCAGAGCCCAGGGGCTGTGCTGCCTGTCTAAACCCAGAGCATTTTGGCCACAGAGAAATGCGTATGCTTAGGGAATGAAAAGCCTTGGGAGAAATACAGAACTAGTTTAAGAGAGAAGATGAGGGCAGCAAAAGCCAGGAAAACAAAACTTGTAAATCTGGGTCGTCAGTTTAGGGATTATTAGGTAACTTCCACTGTCAGGAAAGGCTTCTGATGGTTTCAATGAATGGCCTTCTAGATTTGTAAGCCGTAAGTGAAGTGTAGTCAGCTCCCCTGGAGTCTCTTTCCCCCTGGACACAGAAGCATTTATTTTTGTCTTTCCTTATAGCTCATATCCGCTTTAAGTCCCAGTGACCAAAGTTATTGTTCTTGCTAAATCCTCGGAAGTCAGCACATTTGTGCAACTCACTTGGGATTTGCCTAACAAGGGCACAGGCACACTACATAGTTGGTATTTGCTTTCTCCAGGAAATATGCGCTAATGTCTGGGCTGAACCATTCATTCCACACACATGCAGATGGACCTCTGAGAAGGGATCTGGTTTAACACTTGTCCACAGAGAGAGTCAGTTTCCTAGGCTTCTTTCCACCCTTGCCATGAGATGTTTTGCTCTGGCCCTCTGCAGTGCTTAGAGCCTTTTCCTCGCCTCTGCTGTGTATTCTTTATCGGGGTTTTACCGTGTATTCCTTCTGGGTGCTCTGGATCCTCCGTTTCCTCTGTTAGGGGCTCGGTCTTTTCCAGGGCTCTTTCTTCTCTGGTTGAACACCCTGCACCAATCAGAAGCCAGTGTTACTCTACCACCGGGAGCTGAGAACGAGCAAAGGCAGGAAAGGAGGGGAGAGGTACAGGGAGCAAATGAGTTTCCTAGCCAGCCTTTGACCTGCTCTAGGACTGTG
CCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGATCGAAGCCAGGCATGGGAATTACCACCACCAATATTAGCTTTGGATCCAAAACATAAAAAGCCTCAGAGCAATGGTGGGCTTTTTTTTTTTTTTTTTTTAAATGGGAACTATGACTCCCATGTCCTTAGGTTGTTGTAAGGCTTAAATGAGTTAATACACTTACAACATTAGAACAGCGCCAGCATAAAGTAAAACTCAAAAATATTATTACTGTTAGTATTAAACATTGTTTTAACCCCTGGGGGAAGTTGCATGTCAGCAGCCGATGAAGTAATGTGTTTGCCTTTGCGGAGCCCTGGGGTCCTGGAATTTGCTTCCAGCTCTCTGACCATATCAGTTAGCATGGAGAGAAAGCAGATGGATGCAGGGCCGCCACACCCAGCTCTGTCCCTGAGTTCTGATACCATCTCAGGCTATCTGAACTTGTCCTGATGGAGAAGCCGAAATCTCCGCGATCAACCACTAGAGGGAAACAGAACCAATTAGAATGGCACCGGCCCCACATTCCATTCACACTGAACCGCCCTAGAGAACATTCCATCACAGGGTGTACACGCTGTTGTTCCTTCCTGGGGCTCTCCAAAGGACTTGAAGACTGTGTCACGTGGGTTCGCTGCCCCCTGCGAGGTCCGTGTCTGCTGCTCCTTGGGAAACCATGGCGGGCCGTGTTCTCCTCTCAGCAGATGGCGCTCGGGTCCCTTGGAGGAGAGTGGGGCGCCTGCGGAGCTGAGAGATCCGCGCAGAGCCCCTTTGCCTTCCCTGCCCTGACCTTCTGTTACCAGGCGGTTACTCCACAAGCCCCTCTAGAGACTGATTCTTTTTTCACTTTCTCCAGAACGACCACTAACCCTCATCAGCTGATGTTGAAGCCTGCCTAATGATTGGTAGGAAAAGGAATGTTCCTTGAAAATAGCAGGACTCGGCCTGGTGCGGTCGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTGTACTAAAAAAAAAAAAAAAAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTATGCACCTGTAGTCCCACCTACTTGGGAGGCTGAGGTGGGAGAATCGCTTGATCCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGCACCACTGCCCTCCAGCATGGGTAATGGTTACTATCTCAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAGAAAGGAAATAGGAGGACTCTATAGCTTCCATGCACATGATGACAGTGGCCATGACTTGATCACCACCATGGACTGTTGAGATGGGGGGAAAGACTCAAGGTGTGAGAAACAAGAGGCAACTGTGGTGCCTGGCTTTTGCCCCCGCTGAGCCATGACAACTTGGTGGCTTCAGGAAAGTCACTTCAACTCTCTGAATGAATGTCCACTTCCCCGGCACACAAAAGGGGCAATAAACGTATTCTACCTCCCCATCAAGAGAATACATATTAGTGATCTTTGAATACTGCAGAAAGCTTTTACACATTTTTGGGGCCGCAAATATTTGTCACTAAAATTTGTGGGAAAGAGTAGACAGCCGCTGATAGGGAAAGACTAAGCCAGGAAATGACAGGCTAGCATGGCAGCCAGCTTCTCTGCTGGAAGACTCACAAGGTGGTGGTTTTCCCAGCTCCATTGTGGCCCAGGAATGCGGTGATCTGGTTCTCGTAGAAGGTGATGTTCAGACGGTCCACAGCTGGCCGGCCACAGGGCTCAAAAATCTTTACCAGAATCTTCACGCATACCCCAGGAACCCACCCTGGATGCTCACGTTCAAAGAAGGAGTCTTGGAGGAAAAAAAATGAACATGATGTAAACATAATGCCTAATTACATGGCCCCAGGGCTCTGTCTCCAGGCCCTTGTATTCTGCCTATAACGTCACCTGCCCCTGTGGCTTCGGCTATCACCGTTGCAAGGAAGACTCCAGAATAATAATAGTAATACTAGCATCAAACGTTTATACAGCACCTCCTATATGCCAGGCACTGCTTCGACTGCTTTACACAAATTACCTCAATGTACTCTTACAATGGTCCTAAGGGGTAGACATTTATTAGGCTCATTTCCATAGTCCAGGAAACCTTAGACACAGAGACATCAAGCGTCCTATTAAGGACACATAGGCATGAGTGGCAGAGTTGGGATTTGAACCCAGAGCCCATGCTTGTCAGAATGCACTCACTGTCTATAGGGAGAGTTGGCCCCAAGCTCAACCTTGGTCCTAGGCCCTCATTGCCAACAGTCCACGGGGCATTTCCTCATGAATTTCTGGAAGCGGCTTAGGTTCTTCATCTTCCCAAAACAACATCTGCCTTCAGATTCTCCCATGACCTTTTCTGGACCGCCATTCTCTTAGTCACCTTGGCTTGAATCTTTGAGTTGACTTTGACTAAGGCTTCTTGCTCCTCAGAACTCCCAGGTTTTCCAATAGGTGGGTAGGGCAGTCCACGCTTCCTCATCACCATCCCTCAAACCCCACTCCCCTCCTTCTTCCTCCCATGCCCCCTCCAGTGCAGACCCTCACCGAGTGCTCTCACTTCTCCCTGACCTCCCATCTATCCCTGCTTCATTTCACCCTATATGGCACAGCTTAATTTGTCATCTTAATACTGTAGCTCTAAGCATTTCTTTCCCTAGGGGGAAAAAGTCCACTGTTTCTTCTATCCGTGCCTCCTGGCCTTGCCTGCAACTGAGGTGGAACCAGTCCCCAGCCTCCTGATTTGGCTTAGACTTTCCACTGTGGGAGGAGGATCTTGCCAGAGGCATGGTGTACTGCAGTCTAACTCTGGGAGGGGCTGCAGGTCTCTGGCTTTAGTTTTATGAAATGGCCCCTGGGGTGGGCTGGAGGGATAAAGGCCAGACCCTCTCCTGCCCTGTCAGGCAGAGCCCAGGGGCTGTGCTGCCTGTCTAAACCCAGAGCATTTTGGCCACAGAGAAATGCGTATGCTTAGGGAATGAAAAGCCTTGGGAGAAATACAGAACTAGTTTAAGAGAGAAGATGAGGGCAGCAAAAGCCAGGAAAACAAAACTTGTAAATCTGGGTCGTCAGTTTAGGGATTATTAGGTAACTTCCACTGTCAGGAAAGGCTTCTGATGGTTTCAATGAATGGCCTTCTAGATTTGTAAGCCGTAAGTGAAGTGTAGTCAGCTCCCCTGGAGTCTCTTTCCCCCTGGACACAGAAGCATTTATTTTTGTCTTTCCTTATAGCTCATATCCGCTTTAAGTCCCAGTGACCAAAGTTATTGTTCTTGCTAAATCCTCGGAAGTCAGCACATTTGTGCAACTCACTTGGGATTTGCCTAACAAGGGCACAGGCACACTACATAGTTGGTATTTGCTTTCTCCAGGAAATATGCGCTAATGTCTGGGCTGAACCATTCATTCCACACACATGCAGATGGACCTCTGAGAAGGGATCTGGTTTAACACTTGTCCACAGAGAGAGTCAGTTTCCTAGGCTTCTTTCCACCCTTGCCATGAGATGTTTTGCTCTGGCCCTCTGCAGTGCTTAGAGCCTTTTCCTCGCCTCTGCTGTGTATTCTTTATCGGGGTTTTACCGTGTATTCCTTCTGGGTGCTCTGGATCCTCCGTTTCCTCTGTTAGGGGCTCGGTCTTTTCCAGGGCTCTTTCTTCTCTGGTTGAACACCCTGCACCAATCAGAAGCCAGTGTTACTCTACCACCGGGAGCTGAGAACGAGCAAAGGCAGGAAAGGAGGGGAGAGGTACAGGGAGCAAATGAGTTTCCTAGCCAGCCTTTGACCTGCTCTAGGACTGTG
Task1_train_1268
A mutation in ABCA4 (ATP binding cassette subfamily A member 4), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; Retinal dystrophy
AAAATTTGTGGGAAAGAGTAGACAGCCGCTGATAGGGAAAGACTAAGCCAGGAAATGACAGGCTAGCATGGCAGCCAGCTTCTCTGCTGGAAGACTCACAAGGTGGTGGTTTTCCCAGCTCCATTGTGGCCCAGGAATGCGGTGATCTGGTTCTCGTAGAAGGTGATGTTCAGACGGTCCACAGCTGGCCGGCCACAGGGCTCAAAAATCTTTACCAGATTCTTCACGCATACCCCAGGAACCCACCCTGGATGCTCACGTTCAAAGAAGGAGTCTTGGAGGAAAAAAAATGAACATGATGTAAACATAATGCCTAATTACATGGCCCCAGGGCTCTGTCTCCAGGCCCTTGTATTCTGCCTATAACGTCACCTGCCCCTGTGGCTTCGGCTATCACCGTTGCAAGGAAGACTCCAGAATAATAATAGTAATACTAGCATCAAACGTTTATACAGCACCTCCTATATGCCAGGCACTGCTTCGACTGCTTTACACAAATTACCTCAATGTACTCTTACAATGGTCCTAAGGGGTAGACATTTATTAGGCTCATTTCCATAGTCCAGGAAACCTTAGACACAGAGACATCAAGCGTCCTATTAAGGACACATAGGCATGAGTGGCAGAGTTGGGATTTGAACCCAGAGCCCATGCTTGTCAGAATGCACTCACTGTCTATAGGGAGAGTTGGCCCCAAGCTCAACCTTGGTCCTAGGCCCTCATTGCCAACAGTCCACGGGGCATTTCCTCATGAATTTCTGGAAGCGGCTTAGGTTCTTCATCTTCCCAAAACAACATCTGCCTTCAGATTCTCCCATGACCTTTTCTGGACCGCCATTCTCTTAGTCACCTTGGCTTGAATCTTTGAGTTGACTTTGACTAAGGCTTCTTGCTCCTCAGAACTCCCAGGTTTTCCAATAGGTGGGTAGGGCAGTCCACGCTTCCTCATCACCATCCCTCAAACCCCACTCCCCTCCTTCTTCCTCCCATGCCCCCTCCAGTGCAGACCCTCACCGAGTGCTCTCACTTCTCCCTGACCTCCCATCTATCCCTGCTTCATTTCACCCTATATGGCACAGCTTAATTTGTCATCTTAATACTGTAGCTCTAAGCATTTCTTTCCCTAGGGGGAAAAAGTCCACTGTTTCTTCTATCCGTGCCTCCTGGCCTTGCCTGCAACTGAGGTGGAACCAGTCCCCAGCCTCCTGATTTGGCTTAGACTTTCCACTGTGGGAGGAGGATCTTGCCAGAGGCATGGTGTACTGCAGTCTAACTCTGGGAGGGGCTGCAGGTCTCTGGCTTTAGTTTTATGAAATGGCCCCTGGGGTGGGCTGGAGGGATAAAGGCCAGACCCTCTCCTGCCCTGTCAGGCAGAGCCCAGGGGCTGTGCTGCCTGTCTAAACCCAGAGCATTTTGGCCACAGAGAAATGCGTATGCTTAGGGAATGAAAAGCCTTGGGAGAAATACAGAACTAGTTTAAGAGAGAAGATGAGGGCAGCAAAAGCCAGGAAAACAAAACTTGTAAATCTGGGTCGTCAGTTTAGGGATTATTAGGTAACTTCCACTGTCAGGAAAGGCTTCTGATGGTTTCAATGAATGGCCTTCTAGATTTGTAAGCCGTAAGTGAAGTGTAGTCAGCTCCCCTGGAGTCTCTTTCCCCCTGGACACAGAAGCATTTATTTTTGTCTTTCCTTATAGCTCATATCCGCTTTAAGTCCCAGTGACCAAAGTTATTGTTCTTGCTAAATCCTCGGAAGTCAGCACATTTGTGCAACTCACTTGGGATTTGCCTAACAAGGGCACAGGCACACTACATAGTTGGTATTTGCTTTCTCCAGGAAATATGCGCTAATGTCTGGGCTGAACCATTCATTCCACACACATGCAGATGGACCTCTGAGAAGGGATCTGGTTTAACACTTGTCCACAGAGAGAGTCAGTTTCCTAGGCTTCTTTCCACCCTTGCCATGAGATGTTTTGCTCTGGCCCTCTGCAGTGCTTAGAGCCTTTTCCTCGCCTCTGCTGTGTATTCTTTATCGGGGTTTTACCGTGTATTCCTTCTGGGTGCTCTGGATCCTCCGTTTCCTCTGTTAGGGGCTCGGTCTTTTCCAGGGCTCTTTCTTCTCTGGTTGAACACCCTGCACCAATCAGAAGCCAGTGTTACTCTACCACCGGGAGCTGAGAACGAGCAAAGGCAGGAAAGGAGGGGAGAGGTACAGGGAGCAAATGAGTTTCCTAGCCAGCCTTTGACCTGCTCTAGGACTGTGAGGTACTCAAGCCTGATCACACAATCTTTGCCAGAGGAAGATTTATAACAGGAGCTTCAGACTTGGAGAGTTTCACCTCCTCCTCTCAATGTGCCATGAGGAGCCCACAGTTTCAGAAACTGTGATTTTAAAAAAATTAAGAAAACCAGGTTTGAATTTGAAATGAGTTAATTTTCTTTAGCCCACCACTGGCACATTTTACTCCAATACAAAACATGTGAAAGTCATGGTGAACCTTGAGTAAAAGTCTATTCAGGGGCCGGATGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAATGTAGGCGTATCATGAGGTCAGGAGTTCGAGACCAGTCTGACCAACATGGTGAAACCCCGTATCTACTAAAAATACAAAAATTAGCCGGGTGGGGTGGCGCTCACCTGTAATCCCAGCTACTTAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATAGTGCCACTGCACTCCAGCCTGGCCGACAGAGTGAGACTCTGTCTCAAAAAACAAAAACAAAAACAAAGTCTATTCAAAGTGCTATGACGGGCAGCCAGCTTAAACTACAGCTTGAATATATGGTTTACCTGAGAAATTCACCTAGATGGGCATTTAAGTATCTTGGAATTAACACCAGGGTTGAGCCTGGTGATGGTATTAATACAAGCCTGGACAAATTGTGAAGTGTGGTATAAACACACGCATTGAACACACACACACACACACACACAAACAGACACTTTTTGGCAAACTTGGCATTTGGTTTAAAAAGATATCAGGACATCCTGGAAGGGGAAGAGGAGCAGAAGGGCCAGTCAGTCTGCCAGAGAGGAAGGCAGGGGCAGGAGGAAACCACTGTCACCAGGCATCCAAGGGCTCTCGGCCTCAAGTGCACATACAGGAGCAGGGCGAGATTTCTCAATGCAACAGCCACCCAGGGCCCCTCTGTCCCCCACCCTCTGAAAATGTGCAGGATGTGTGCTGGAGCAGCAGGTAGTGGGCCTGCTGGTCAGGGACCTGCTGCCTCTAGTACTGTTCTTCTATTTCTGCTTCCTGAAGGACTTTTGAATCTATGCCCCACAGTTCCTTTGATCACTTTACTAGCTATCAAACTGCACAAATAGGTAATGAAATAGCAAGAGGAAACATCCTCCTGAAGAGTTTAATCACTGGAATGAGTTCCTGCCAGGCAATGCATGTGCATGTTCCAGATTTTGTCCCAGGTGACCAATAGGGGAAGATACTGGATGTCTCCTGGGCTCCATTTTTTATTTTTTAATCTGTGAAAGGAGGGAGGTTGGGTGGAGACACTCAGCTCTTTTCTGGTTTTAGAGAGTTTTAGAAATCCATTTCAGTCCAGCCTATGAGACAGGTGAAAAATATTTGCCTTCCGTTGGCAAACATATTTGTGATTCACTTTTGAAGGAGCATATTTTCCTTATGATTTCTTTTTTTCTTAAGAGGCAGAGTATCTGTTGGGATTGTAGAGAAAAATAAAATGCCCACAAGCCCTGTGTTGAAATTTTTCATTTATTATATGATAATTTTATTATAGTAAAAAATTAACAAGTTTACAGGTAGACAAGTCAATACAATGAAAAAATCCTGAGCTGTTAAAGTGTTGTTTGTTTGACCCAGTGAAAACAAAAGCAAAAAACAAAAGAAAAAAAGAAAAAAAAAGACTAATCCCCCAGAGAAAACAAACATCCATCTCAGTGCTTGCAGGATAAGTCCTGGCCCAGGCCCAATAATACAAAGTAAAGAATAGGTAGGTGAGCAACAAACAGATGGGAGAG
AAAATTTGTGGGAAAGAGTAGACAGCCGCTGATAGGGAAAGACTAAGCCAGGAAATGACAGGCTAGCATGGCAGCCAGCTTCTCTGCTGGAAGACTCACAAGGTGGTGGTTTTCCCAGCTCCATTGTGGCCCAGGAATGCGGTGATCTGGTTCTCGTAGAAGGTGATGTTCAGACGGTCCACAGCTGGCCGGCCACAGGGCTCAAAAATCTTTACCAGATTCTTCACGCATACCCCAGGAACCCACCCTGGATGCTCACGTTCAAAGAAGGAGTCTTGGAGGAAAAAAAATGAACATGATGTAAACATAATGCCTAATTACATGGCCCCAGGGCTCTGTCTCCAGGCCCTTGTATTCTGCCTATAACGTCACCTGCCCCTGTGGCTTCGGCTATCACCGTTGCAAGGAAGACTCCAGAATAATAATAGTAATACTAGCATCAAACGTTTATACAGCACCTCCTATATGCCAGGCACTGCTTCGACTGCTTTACACAAATTACCTCAATGTACTCTTACAATGGTCCTAAGGGGTAGACATTTATTAGGCTCATTTCCATAGTCCAGGAAACCTTAGACACAGAGACATCAAGCGTCCTATTAAGGACACATAGGCATGAGTGGCAGAGTTGGGATTTGAACCCAGAGCCCATGCTTGTCAGAATGCACTCACTGTCTATAGGGAGAGTTGGCCCCAAGCTCAACCTTGGTCCTAGGCCCTCATTGCCAACAGTCCACGGGGCATTTCCTCATGAATTTCTGGAAGCGGCTTAGGTTCTTCATCTTCCCAAAACAACATCTGCCTTCAGATTCTCCCATGACCTTTTCTGGACCGCCATTCTCTTAGTCACCTTGGCTTGAATCTTTGAGTTGACTTTGACTAAGGCTTCTTGCTCCTCAGAACTCCCAGGTTTTCCAATAGGTGGGTAGGGCAGTCCACGCTTCCTCATCACCATCCCTCAAACCCCACTCCCCTCCTTCTTCCTCCCATGCCCCCTCCAGTGCAGACCCTCACCGAGTGCTCTCACTTCTCCCTGACCTCCCATCTATCCCTGCTTCATTTCACCCTATATGGCACAGCTTAATTTGTCATCTTAATACTGTAGCTCTAAGCATTTCTTTCCCTAGGGGGAAAAAGTCCACTGTTTCTTCTATCCGTGCCTCCTGGCCTTGCCTGCAACTGAGGTGGAACCAGTCCCCAGCCTCCTGATTTGGCTTAGACTTTCCACTGTGGGAGGAGGATCTTGCCAGAGGCATGGTGTACTGCAGTCTAACTCTGGGAGGGGCTGCAGGTCTCTGGCTTTAGTTTTATGAAATGGCCCCTGGGGTGGGCTGGAGGGATAAAGGCCAGACCCTCTCCTGCCCTGTCAGGCAGAGCCCAGGGGCTGTGCTGCCTGTCTAAACCCAGAGCATTTTGGCCACAGAGAAATGCGTATGCTTAGGGAATGAAAAGCCTTGGGAGAAATACAGAACTAGTTTAAGAGAGAAGATGAGGGCAGCAAAAGCCAGGAAAACAAAACTTGTAAATCTGGGTCGTCAGTTTAGGGATTATTAGGTAACTTCCACTGTCAGGAAAGGCTTCTGATGGTTTCAATGAATGGCCTTCTAGATTTGTAAGCCGTAAGTGAAGTGTAGTCAGCTCCCCTGGAGTCTCTTTCCCCCTGGACACAGAAGCATTTATTTTTGTCTTTCCTTATAGCTCATATCCGCTTTAAGTCCCAGTGACCAAAGTTATTGTTCTTGCTAAATCCTCGGAAGTCAGCACATTTGTGCAACTCACTTGGGATTTGCCTAACAAGGGCACAGGCACACTACATAGTTGGTATTTGCTTTCTCCAGGAAATATGCGCTAATGTCTGGGCTGAACCATTCATTCCACACACATGCAGATGGACCTCTGAGAAGGGATCTGGTTTAACACTTGTCCACAGAGAGAGTCAGTTTCCTAGGCTTCTTTCCACCCTTGCCATGAGATGTTTTGCTCTGGCCCTCTGCAGTGCTTAGAGCCTTTTCCTCGCCTCTGCTGTGTATTCTTTATCGGGGTTTTACTGTGTATTCCTTCTGGGTGCTCTGGATCCTCCGTTTCCTCTGTTAGGGGCTCGGTCTTTTCCAGGGCTCTTTCTTCTCTGGTTGAACACCCTGCACCAATCAGAAGCCAGTGTTACTCTACCACCGGGAGCTGAGAACGAGCAAAGGCAGGAAAGGAGGGGAGAGGTACAGGGAGCAAATGAGTTTCCTAGCCAGCCTTTGACCTGCTCTAGGACTGTGAGGTACTCAAGCCTGATCACACAATCTTTGCCAGAGGAAGATTTATAACAGGAGCTTCAGACTTGGAGAGTTTCACCTCCTCCTCTCAATGTGCCATGAGGAGCCCACAGTTTCAGAAACTGTGATTTTAAAAAAATTAAGAAAACCAGGTTTGAATTTGAAATGAGTTAATTTTCTTTAGCCCACCACTGGCACATTTTACTCCAATACAAAACATGTGAAAGTCATGGTGAACCTTGAGTAAAAGTCTATTCAGGGGCCGGATGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAATGTAGGCGTATCATGAGGTCAGGAGTTCGAGACCAGTCTGACCAACATGGTGAAACCCCGTATCTACTAAAAATACAAAAATTAGCCGGGTGGGGTGGCGCTCACCTGTAATCCCAGCTACTTAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATAGTGCCACTGCACTCCAGCCTGGCCGACAGAGTGAGACTCTGTCTCAAAAAACAAAAACAAAAACAAAGTCTATTCAAAGTGCTATGACGGGCAGCCAGCTTAAACTACAGCTTGAATATATGGTTTACCTGAGAAATTCACCTAGATGGGCATTTAAGTATCTTGGAATTAACACCAGGGTTGAGCCTGGTGATGGTATTAATACAAGCCTGGACAAATTGTGAAGTGTGGTATAAACACACGCATTGAACACACACACACACACACACACAAACAGACACTTTTTGGCAAACTTGGCATTTGGTTTAAAAAGATATCAGGACATCCTGGAAGGGGAAGAGGAGCAGAAGGGCCAGTCAGTCTGCCAGAGAGGAAGGCAGGGGCAGGAGGAAACCACTGTCACCAGGCATCCAAGGGCTCTCGGCCTCAAGTGCACATACAGGAGCAGGGCGAGATTTCTCAATGCAACAGCCACCCAGGGCCCCTCTGTCCCCCACCCTCTGAAAATGTGCAGGATGTGTGCTGGAGCAGCAGGTAGTGGGCCTGCTGGTCAGGGACCTGCTGCCTCTAGTACTGTTCTTCTATTTCTGCTTCCTGAAGGACTTTTGAATCTATGCCCCACAGTTCCTTTGATCACTTTACTAGCTATCAAACTGCACAAATAGGTAATGAAATAGCAAGAGGAAACATCCTCCTGAAGAGTTTAATCACTGGAATGAGTTCCTGCCAGGCAATGCATGTGCATGTTCCAGATTTTGTCCCAGGTGACCAATAGGGGAAGATACTGGATGTCTCCTGGGCTCCATTTTTTATTTTTTAATCTGTGAAAGGAGGGAGGTTGGGTGGAGACACTCAGCTCTTTTCTGGTTTTAGAGAGTTTTAGAAATCCATTTCAGTCCAGCCTATGAGACAGGTGAAAAATATTTGCCTTCCGTTGGCAAACATATTTGTGATTCACTTTTGAAGGAGCATATTTTCCTTATGATTTCTTTTTTTCTTAAGAGGCAGAGTATCTGTTGGGATTGTAGAGAAAAATAAAATGCCCACAAGCCCTGTGTTGAAATTTTTCATTTATTATATGATAATTTTATTATAGTAAAAAATTAACAAGTTTACAGGTAGACAAGTCAATACAATGAAAAAATCCTGAGCTGTTAAAGTGTTGTTTGTTTGACCCAGTGAAAACAAAAGCAAAAAACAAAAGAAAAAAAGAAAAAAAAAGACTAATCCCCCAGAGAAAACAAACATCCATCTCAGTGCTTGCAGGATAAGTCCTGGCCCAGGCCCAATAATACAAAGTAAAGAATAGGTAGGTGAGCAACAAACAGATGGGAGAG
Task1_train_1269
A sequence alteration has been identified in ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Is it disease-inducing or harmless?
Pathogenic; Retinitis pigmentosa
CTCAAAAAACAAAAACAAAAACAAAGTCTATTCAAAGTGCTATGACGGGCAGCCAGCTTAAACTACAGCTTGAATATATGGTTTACCTGAGAAATTCACCTAGATGGGCATTTAAGTATCTTGGAATTAACACCAGGGTTGAGCCTGGTGATGGTATTAATACAAGCCTGGACAAATTGTGAAGTGTGGTATAAACACACGCATTGAACACACACACACACACACACACAAACAGACACTTTTTGGCAAACTTGGCATTTGGTTTAAAAAGATATCAGGACATCCTGGAAGGGGAAGAGGAGCAGAAGGGCCAGTCAGTCTGCCAGAGAGGAAGGCAGGGGCAGGAGGAAACCACTGTCACCAGGCATCCAAGGGCTCTCGGCCTCAAGTGCACATACAGGAGCAGGGCGAGATTTCTCAATGCAACAGCCACCCAGGGCCCCTCTGTCCCCCACCCTCTGAAAATGTGCAGGATGTGTGCTGGAGCAGCAGGTAGTGGGCCTGCTGGTCAGGGACCTGCTGCCTCTAGTACTGTTCTTCTATTTCTGCTTCCTGAAGGACTTTTGAATCTATGCCCCACAGTTCCTTTGATCACTTTACTAGCTATCAAACTGCACAAATAGGTAATGAAATAGCAAGAGGAAACATCCTCCTGAAGAGTTTAATCACTGGAATGAGTTCCTGCCAGGCAATGCATGTGCATGTTCCAGATTTTGTCCCAGGTGACCAATAGGGGAAGATACTGGATGTCTCCTGGGCTCCATTTTTTATTTTTTAATCTGTGAAAGGAGGGAGGTTGGGTGGAGACACTCAGCTCTTTTCTGGTTTTAGAGAGTTTTAGAAATCCATTTCAGTCCAGCCTATGAGACAGGTGAAAAATATTTGCCTTCCGTTGGCAAACATATTTGTGATTCACTTTTGAAGGAGCATATTTTCCTTATGATTTCTTTTTTTCTTAAGAGGCAGAGTATCTGTTGGGATTGTAGAGAAAAATAAAATGCCCACAAGCCCTGTGTTGAAATTTTTCATTTATTATATGATAATTTTATTATAGTAAAAAATTAACAAGTTTACAGGTAGACAAGTCAATACAATGAAAAAATCCTGAGCTGTTAAAGTGTTGTTTGTTTGACCCAGTGAAAACAAAAGCAAAAAACAAAAGAAAAAAAGAAAAAAAAAGACTAATCCCCCAGAGAAAACAAACATCCATCTCAGTGCTTGCAGGATAAGTCCTGGCCCAGGCCCAATAATACAAAGTAAAGAATAGGTAGGTGAGCAACAAACAGATGGGAGAGTACTTCAGCTCTAGGGGAGTCCCCCGCTTTCACCCTGGAATTTCTTTGCTTTCTCAGACCTCACAAAAGAGTCTGTGCTTTTCCCTGCTTCTAGAACTTTCTCTAGCTAGGCCTCCTGTTTGGTTCAGTAGTAAAGGTGCCTTTTACCTAAGATGTGTTGTGGGCAAATGCCCTTTCAGCCTTTTTCCCCACCCCTAAGAAAGATCAACACCAGGAGAATCTGAGGTATTGCCCTGAAGATAACAGCTCTGCCTCAGCCCCAGGAGGAGTCTTCATCTTGGGAGAATAAACTAATTTATATTTTGAAAAGGCAGAGAAGAATAAAAAGGCACAAGGAAGGCAATGGGAGATGAATGCAAAGGTTCCTTCATGATTCCCTGGATTTCTGCTTTATACTGAAAAGCTGCAAAAGTTCTTTGAACCCTGAAGTGGCTTGGCCTTTTTTAAATAGGGCAATTTAGTCTACTGGACAAGGTGTACAGGACCCAGGGCTTCATCCATGATCAGCCATTCATGATCACACAGGGCCCAGCAACTTGTGAAAGGTGGTCCCCCAGACGCTGCAATGCCCATCAAGGGGCAGAGCCCCAGGAGGCAGCTGACTCATCAGGAATCACACCGTTTACATAGAGGGCCACCTCTGTGATCCATATACATCTTGCACAGAGCCCAAGGAGTTGATTTCAAACATTAAGATTTGTGTTTTAAAGGACTCACCTTCACCGCCAAGCCAATACGACTCTTGTAGAAGAAAGTACCAAGGAAGTGGGGTTCCATAGTCTCCTAAAAATAGAGACAAATAAACAGAGAAAGTCGAAGGAGTCTCCCTATCCTACCTTACCGCAGTTCTATAAGATCTAGAGTTTATTTACCTGAACCTCAAATTGTAACTATAGATATTTGCAGTTATTATTACATGGCTATTCTCAGGCTCCCAGAAAGACTACCCCTTCCAACATATTTTTATCCACACAGTCATGTTTTTGGGGTGTTATAAGCAACAGCAAGACCAATAATCTTGGTTGACATCAGTTTTCCAAGAAAACGTTTCATGAGAGAATTAAATCAAGTCCTTTTCCAGGAGTCAGATAATAATAATGGTGATCATCACTAAGATGTACTGGATATTCTTTCTGTGGCAGGCATTGCTGTGAGTGCTTTCCATGTGTTAAATAATCTAAACCTCAAAACAACCCCAGGAGATAGGTAGTAATATTATTCTTGTGAGAAAGGAAACAGAGGCACACTGAGATTCAGCCATCTGCCCCCCGTCACAGATAGTGAAACAGAAATGTAGGAATTCCAACACAGGTAATCCAGTTCTAATGTCAGTGTTTTTAACCCTACACCCCCATCCCTCATTCTACTGGATCTACCAGGGTTCCAAGAAAAAGACTCCCAAATTTCTAGTCCAGTTCTCTTTGAAAGTTCTGCTCCCTACAAAATGTTGATTTTGTAAAATCATGGTCTCGGCTTTTTTTAAGAGTTGCCGTATGTTTCATGGCCTTTGCTGCCACTGGACTGTCTATTCCTCGGGGCAGGTCTGGATCTTTATCTCCACCGCTCTGTTCCCAGAACCTGGCCCTGCTGAGCCTCATGCACAGGTGCTGCTCAGTAAATAGCTGTTGAATAAATGAAAGCTTTAGCTTGGCTAAAATAAAACTTTTGAATTATGCACAAATTTCAATTTTAATCAACTAATTTTCATCTATTATATCTGTTTCCAACAATCTAGTAGGATAGAAAAAACAGACTAAGTTCAAATGTCTTGTTCAAAGTCACTGTCATGGGTTGAATTTGGTCTCCCTCCAAAAAGACATGTTGGGGTCTGTGGCATAACACAAAATATACTTGGTCTTTGTCCCCAGCTCCTGTGCAGGGCACAGATCTCCTAAAACCCTTGGAATTTCCTGGCAGAAAGGAGTGTCTTTTTTTATTCATAATAAGCCCCTTCCTCTACCACATCTGAGTTTATGCTAATGATGTGACTCAGGGTAGAGCCCCAAGATAGCTGCAGTTTCTGGGGACTGGTCACCAGAAACACCACACATGTGAAGAATGGAACTTTCAGTCCCAACCCTCAACCTCCAATGGGGGAGTATGGAGCTGGAGATAGGGTTATAAAAACTCTCGAACAACAAGATTTGGAGAGCTTTTGGGTTGCTGAACACTTTGAGGTGCTGGGAGAGTGGTGCGTCTAGAGAGAGCATAGAAACTCTTCCCCCGACCCCATACTGTGCTTCTCTTCCATGTGGCAGTTCCTGAGCTGCATCCTTCATTTTAAAGCTGTGATTGTAAGTACAGGATTTTGGCAAAAGTGTGGGTAGCCTGGGCACCACATTTCCAGCTGGCATCTGAAGACGGGGAAGCCTTGTGGGACTGAACCCGTGGAGTCTGTGTGAATTCTGGATAGTGTCAGAATTCAATTGAATTCTTGGACAACCCATTAATATAGGAGAATTGGTTGGTGCCAAAACAACAACAACAAAAAACCAAAACACACATTTGGTGTCAGAAGTGCTGTCAAGAAAAAAGATACCAGAGTGCTAACCCCAGGTACCTCATAATGTGGCCTTGTTTAGGAACAGGGTCATTGCAGATGTGATTAGTTGAGATGAGGTCACATGGGAGCAAGGTAGGCACCTAATCCAATCCAGTTGGTATCCTTATAAGATGGCCATGTAAGACAGGCAGAATGCCATGTGCAGACGAAGGATCAGCAGGAAGCATCTACAAGTCAAGGAGTGCCCAAGCACCTACAGGTTTCAGAGGGAGCATGGCCCTGCCAACACCTTGATTTT
CTCAAAAAACAAAAACAAAAACAAAGTCTATTCAAAGTGCTATGACGGGCAGCCAGCTTAAACTACAGCTTGAATATATGGTTTACCTGAGAAATTCACCTAGATGGGCATTTAAGTATCTTGGAATTAACACCAGGGTTGAGCCTGGTGATGGTATTAATACAAGCCTGGACAAATTGTGAAGTGTGGTATAAACACACGCATTGAACACACACACACACACACACACAAACAGACACTTTTTGGCAAACTTGGCATTTGGTTTAAAAAGATATCAGGACATCCTGGAAGGGGAAGAGGAGCAGAAGGGCCAGTCAGTCTGCCAGAGAGGAAGGCAGGGGCAGGAGGAAACCACTGTCACCAGGCATCCAAGGGCTCTCGGCCTCAAGTGCACATACAGGAGCAGGGCGAGATTTCTCAATGCAACAGCCACCCAGGGCCCCTCTGTCCCCCACCCTCTGAAAATGTGCAGGATGTGTGCTGGAGCAGCAGGTAGTGGGCCTGCTGGTCAGGGACCTGCTGCCTCTAGTACTGTTCTTCTATTTCTGCTTCCTGAAGGACTTTTGAATCTATGCCCCACAGTTCCTTTGATCACTTTACTAGCTATCAAACTGCACAAATAGGTAATGAAATAGCAAGAGGAAACATCCTCCTGAAGAGTTTAATCACTGGAATGAGTTCCTGCCAGGCAATGCATGTGCATGTTCCAGATTTTGTCCCAGGTGACCAATAGGGGAAGATACTGGATGTCTCCTGGGCTCCATTTTTTATTTTTTAATCTGTGAAAGGAGGGAGGTTGGGTGGAGACACTCAGCTCTTTTCTGGTTTTAGAGAGTTTTAGAAATCCATTTCAGTCCAGCCTATGAGACAGGTGAAAAATATTTGCCTTCCGTTGGCAAACATATTTGTGATTCACTTTTGAAGGAGCATATTTTCCTTATGATTTCTTTTTTTCTTAAGAGGCAGAGTATCTGTTGGGATTGTAGAGAAAAATAAAATGCCCACAAGCCCTGTGTTGAAATTTTTCATTTATTATATGATAATTTTATTATAGTAAAAAATTAACAAGTTTACAGGTAGACAAGTCAATACAATGAAAAAATCCTGAGCTGTTAAAGTGTTGTTTGTTTGACCCAGTGAAAACAAAAGCAAAAAACAAAAGAAAAAAAGAAAAAAAAAGACTAATCCCCCAGAGAAAACAAACATCCATCTCAGTGCTTGCAGGATAAGTCCTGGCCCAGGCCCAATAATACAAAGTAAAGAATAGGTAGGTGAGCAACAAACAGATGGGAGAGTACTTCAGCTCTAGGGGAGTCCCCCGCTTTCACCCTGGAATTTCTTTGCTTTCTCAGACCTCACAAAAGAGTCTGTGCTTTTCCCTGCTTCTAGAACTTTCTCTAGCTAGGCCTCCTGTTTGGTTCAGTAGTAAAGGTGCCTTTTACCTAAGATGTGTTGTGGGCAAATGCCCTTTCAGCCTTTTTCCCCACCCCTAAGAAAGATCAACACCAGGAGAATCTGAGGTATTGCCCTGAAGATAACAGCTCTGCCTCAGCCCCAGGAGGAGTCTTCATCTTGGGAGAATAAACTAATTTATATTTTGAAAAGGCAGAGAAGAATAAAAAGGCACAAGGAAGGCAATGGGAGATGAATGCAAAGGTTCCTTCATGATTCCCTGGATTTCTGCTTTATACTGAAAAGCTGCAAAAGTTCTTTGAACCCTGAAGTGGCTTGGCCTTTTTTAAATAGGGCAATTTAGTCTACTGGACAAGGTGTACAGGACCCAGGGCTTCATCCATGATCAGCCATTCATGATCACACAGGGCCCAGCAACTTGTGAAAGGTGGTCCCCCAGACGCTGCAATGCCCATCAAGGGGCAGAGCCCCAGGAGGCAGCTGACTCATCAGGAATCACACCGTTTACATAGAGGGCCACCTCTGTGATCCATATACATCTTGCACAGAGCCCAAGGAGTTGATTTCAAACATTAAGATTTGTGTTTTAAAGGACTCACCTTCACCGCCAAGCCAATACGACTCTTGTAGAAGAAGGTACCAAGGAAGTGGGGTTCCATAGTCTCCTAAAAATAGAGACAAATAAACAGAGAAAGTCGAAGGAGTCTCCCTATCCTACCTTACCGCAGTTCTATAAGATCTAGAGTTTATTTACCTGAACCTCAAATTGTAACTATAGATATTTGCAGTTATTATTACATGGCTATTCTCAGGCTCCCAGAAAGACTACCCCTTCCAACATATTTTTATCCACACAGTCATGTTTTTGGGGTGTTATAAGCAACAGCAAGACCAATAATCTTGGTTGACATCAGTTTTCCAAGAAAACGTTTCATGAGAGAATTAAATCAAGTCCTTTTCCAGGAGTCAGATAATAATAATGGTGATCATCACTAAGATGTACTGGATATTCTTTCTGTGGCAGGCATTGCTGTGAGTGCTTTCCATGTGTTAAATAATCTAAACCTCAAAACAACCCCAGGAGATAGGTAGTAATATTATTCTTGTGAGAAAGGAAACAGAGGCACACTGAGATTCAGCCATCTGCCCCCCGTCACAGATAGTGAAACAGAAATGTAGGAATTCCAACACAGGTAATCCAGTTCTAATGTCAGTGTTTTTAACCCTACACCCCCATCCCTCATTCTACTGGATCTACCAGGGTTCCAAGAAAAAGACTCCCAAATTTCTAGTCCAGTTCTCTTTGAAAGTTCTGCTCCCTACAAAATGTTGATTTTGTAAAATCATGGTCTCGGCTTTTTTTAAGAGTTGCCGTATGTTTCATGGCCTTTGCTGCCACTGGACTGTCTATTCCTCGGGGCAGGTCTGGATCTTTATCTCCACCGCTCTGTTCCCAGAACCTGGCCCTGCTGAGCCTCATGCACAGGTGCTGCTCAGTAAATAGCTGTTGAATAAATGAAAGCTTTAGCTTGGCTAAAATAAAACTTTTGAATTATGCACAAATTTCAATTTTAATCAACTAATTTTCATCTATTATATCTGTTTCCAACAATCTAGTAGGATAGAAAAAACAGACTAAGTTCAAATGTCTTGTTCAAAGTCACTGTCATGGGTTGAATTTGGTCTCCCTCCAAAAAGACATGTTGGGGTCTGTGGCATAACACAAAATATACTTGGTCTTTGTCCCCAGCTCCTGTGCAGGGCACAGATCTCCTAAAACCCTTGGAATTTCCTGGCAGAAAGGAGTGTCTTTTTTTATTCATAATAAGCCCCTTCCTCTACCACATCTGAGTTTATGCTAATGATGTGACTCAGGGTAGAGCCCCAAGATAGCTGCAGTTTCTGGGGACTGGTCACCAGAAACACCACACATGTGAAGAATGGAACTTTCAGTCCCAACCCTCAACCTCCAATGGGGGAGTATGGAGCTGGAGATAGGGTTATAAAAACTCTCGAACAACAAGATTTGGAGAGCTTTTGGGTTGCTGAACACTTTGAGGTGCTGGGAGAGTGGTGCGTCTAGAGAGAGCATAGAAACTCTTCCCCCGACCCCATACTGTGCTTCTCTTCCATGTGGCAGTTCCTGAGCTGCATCCTTCATTTTAAAGCTGTGATTGTAAGTACAGGATTTTGGCAAAAGTGTGGGTAGCCTGGGCACCACATTTCCAGCTGGCATCTGAAGACGGGGAAGCCTTGTGGGACTGAACCCGTGGAGTCTGTGTGAATTCTGGATAGTGTCAGAATTCAATTGAATTCTTGGACAACCCATTAATATAGGAGAATTGGTTGGTGCCAAAACAACAACAACAAAAAACCAAAACACACATTTGGTGTCAGAAGTGCTGTCAAGAAAAAAGATACCAGAGTGCTAACCCCAGGTACCTCATAATGTGGCCTTGTTTAGGAACAGGGTCATTGCAGATGTGATTAGTTGAGATGAGGTCACATGGGAGCAAGGTAGGCACCTAATCCAATCCAGTTGGTATCCTTATAAGATGGCCATGTAAGACAGGCAGAATGCCATGTGCAGACGAAGGATCAGCAGGAAGCATCTACAAGTCAAGGAGTGCCCAAGCACCTACAGGTTTCAGAGGGAGCATGGCCCTGCCAACACCTTGATTTT
Task1_train_1270
Consider a variant on Chromosome 1 in gene ABCA4 (ATP binding cassette subfamily A member 4). Determine its clinical classification and disease relevance.
Pathogenic; Isolated macular dystrophy
TTGGGTTGCTGAACACTTTGAGGTGCTGGGAGAGTGGTGCGTCTAGAGAGAGCATAGAAACTCTTCCCCCGACCCCATACTGTGCTTCTCTTCCATGTGGCAGTTCCTGAGCTGCATCCTTCATTTTAAAGCTGTGATTGTAAGTACAGGATTTTGGCAAAAGTGTGGGTAGCCTGGGCACCACATTTCCAGCTGGCATCTGAAGACGGGGAAGCCTTGTGGGACTGAACCCGTGGAGTCTGTGTGAATTCTGGATAGTGTCAGAATTCAATTGAATTCTTGGACAACCCATTAATATAGGAGAATTGGTTGGTGCCAAAACAACAACAACAAAAAACCAAAACACACATTTGGTGTCAGAAGTGCTGTCAAGAAAAAAGATACCAGAGTGCTAACCCCAGGTACCTCATAATGTGGCCTTGTTTAGGAACAGGGTCATTGCAGATGTGATTAGTTGAGATGAGGTCACATGGGAGCAAGGTAGGCACCTAATCCAATCCAGTTGGTATCCTTATAAGATGGCCATGTAAGACAGGCAGAATGCCATGTGCAGACGAAGGATCAGCAGGAAGCATCTACAAGTCAAGGAGTGCCCAAGCACCTACAGGTTTCAGAGGGAGCATGGCCCTGCCAACACCTTGATTTTGGACTTCCAGCCTTCAGAGCTGTGAGATATAAATGGCTGTTGTCTAAGCTGCCCAGTTAGTGGTATTTTGTTATGGCAGCCCTAGTAAATGAATGCACGCTTGCCACTAGGATGCAAACCCAGGCCTCCTGACCCAGTCTAGAAGCCTTCCTCCTATTCAGGGTGGCTGCCTACCTATTTCTGCCAACAAAGGCTGCCCTGAGATGATCTGAGAGCTGTGAGTTTGTCCCTCCCCATGGACTGGACCAGCCTCACCATCCCCTGCCTGCTTTTGGCTACAGCATCAAGAGCCAGGCATGGCTGCCACAGCACAAGGCTATTGGCTGACTTGGAGACCACTCAGAGGAAGATGGGGCAGCTCTAGTTACCAGAAAATGCTAATTTGAAGGAAAATTTGATTTTCTACCAAGCAAATACACGACCGTGCAAACAGCCAATTTTCAGAAGCTGATTTTCCATGCTACAGATTACTTAGATATTTATTCAGTGCCCACCAAAGGTCAGGCACTATTCTGGGCACTGGGACTGTCACAGTTAACAAAATAGACCACATGCATGCTCTCTGGGCTCATATTCTACTAAGGGCAGAGAGTCAGTAAATACATGCATAAGATACATCATTGTATCAGATGGTGAAGAATGTTCCCCAAAATAAAGTAGGGTAAGGGGACAGGAACCCTGGAGGAATGTTGTTTACAGAGCCATAGTTATGTAGATCTCTTCAGTCTGGAAAGATCCCTGTGATAATGGGACATTTGAACAGAGACCTTAACAAAGTAAGGAAGCAAGCCTGCAGATATGAGGGGCGGGTTGCAGGTTGTGGGGAGAGAAATGTGCTTCTGGCATGAGAACAGCAGGTGGAAAGGCCCTGAAGAGGAAATGCGCTCGGTGTATTAAACAGTCAGTAAGGAGGCCGACGTGGCTGGAGCAGAGGAACATGGAGGAGTAGGGAAAATCGTAAGATGAAGAAGAGAGTTGGAGGCCGGATAATGAAGCAGCTTGGAGGCCAGGGTTGAGACACTGGGTTTTACTCTGAAAGAGAGGAAAAGCCAGTGCAAGCATTTGACAGAGAGGGCTGACACCACATGACCTTGATTCTGAAAGGATCTCCCTGAATACAGTGTGCAGAATGGACTGATGGGAGGTGGTAGTGGAAGGAAGAGACTGGCATTGGGAAGGTTGTGGTGGAGGTGGTGACAAGAGATCAGATTCTGGATTTGTTTCTCAAGTAGAGCCAGTAGGATTTGCTGGTGGATTTTTAACTTCTAGATTTAAACTTCAAATGCTGGTTCTGACAAAGAGCTTGGAAGAAATGAAATTTAAACTAGATGAATGGAGAGGGCTGGGGATCTGAAGAACTCAATTACCTTTACCCTATAGAGGAGGATGCTTACCTGGAAACACCTGATCAAGGTACCAAGCGAGTAAGCCATAGACAGCAGCATCAAGGAGCATCATCTGCATGGACAGCAGGAAGCTGAATTCGTCCCCTTCCGTGGGACTGTTCCCGATGTTGCTCCACTGCAGCCCCAGGCCTTGCTCTTCAAAGCGAACCAGGTACTCAGTGCCAAATCCAAATGCCACCGGAGACAGTAAGCTCTGCAGTGAGGCGGAGAGGGCACAGAAAAAGAGCAGTGCCTTTTATCCAATGCAACAGCACCCAGATGCCCTCGAGGTAGAGGGGAGGGCCAAAAGAGGGTCCCCATTGTCTCTCAGTGTAAGGTCAGCTCAGGAGGGTGAAGGCAGTCTTTCCCTTGACGGCCAGGGGGAGTTCAGAGTGTCTCTCTGCAAACAAGAGAGTCTCTAGCTATACAGTCACAAAAAACATGAAACAATTCTCAGCCCAGCCCTAATCCACAGTTGCTAGACCTATAGCTTCCTAGTGATCTATGTACCCAAGAAGATGGCCTCAAATTCCATCTGCCTACTCAAGGATTACCAAAATAGCCCAACTCTGCCCACAGATGAGTCATAAGGATTTCTTGCCACTTATCCATTGTGATCATTTTAGAAAATTGGGTACTACAAATGGCAGCAATTGATTTCTTATTTAACCTAAGAAATGAAAGGCAGATGCCCTGACACCTCTGGAGCCTAATAAGTGTGAGTCGTGAGAACAAGTCAGACTTTCTGTCTTTTCCCAGTGAGGGCAGGTGGTTGTCCCTTCTTGACTCTACAGCACAGAGACAGGGAGACTCCGGAGGACAAGGGGAACTGCACCCTCCAGGGCCAGAGGCTGATTAGAGGGTGGAAATGGCCCATTTGAAAACAATTAGAGAAAAGACAGTGCTCTTTGTCTGGGTCTGGGAATTGTGAACTAGGAAGTTTCTCAGGCCATCAGAAGTCAGCTTCGGGAGTCCTCTCCTGGCCAGCGAGCCTGACTCTGTGGACAGTCTCATTTCTGCACTTCTTTCTGCAAACATTGGTAGAGCATGTTAAAGATACTTGTGGAAATACTCCAATTCAAGTTTTTTTGAAGCAAAACAAAAACCTTTAATTAATGGAAACATCTCTTTAGACAGATAGTAAAGTGGCAAGCTCCCTCCCTTCTGATTCTTCTCAAAGAGTAGGAAAGGAAAACTAGTGAAATGGGCTGCTGGCTCTCTCTTGTGAGTAAATAAAGGGACCCATGAGTTGAACTGGTTTTTTAATGACTTTCCAGGGCAGATGAATCAAGCAGGCGTGGTGAGGAGTCACTGTTGCATCGCTCGGGGTGAGGACTGCTCCCACTTTTGCCCCTGTACATTTTAGCCTCACGTGAACTTTTTAACCTTAGGTCAAAGGCAAAGTGGACCCCCTCAGAGGGCAGGCTGGGCCTCCAGGACTGCTACGGACCCTTCCAAGGAAACGTGTTGTAGGACAGGGGCCAGCCCAAGGGCCTCACCACAGCCTTCTTCAGCTCAGCGGTCATGCGGTCCTGCCAGGCGAAGCACAGGATGTGTGGCAGGTAGAGGGTGAAATAGATGACACCACTACAGGCTGCTGCCAGACTGGCCTTGGAGAAGAAGGTGCTGAGCAGAAAGCACAGCATGATGGTGGCAGTGGAGAAAGCCAACAAGAACAGGAAGAGGATGAATGGGTCGCTGTAATGTAGGATTCTTCCATGCTGAAACCAAGAGGCCATGCGTCAGTAACTCCTGCCCTTGGCCGGACGCCTTCTCATTCTGCCCTAAAGGGCTCTCTCCCACCAGCCTGCAGTTAGTGTCTAAATTTCTACGCACACTCCATGTGCTGAGTTCCTTTAATCCTAGGAATGCCATTTTCCCTGGGAGGAGTAGCACATTAGACTCCTAACAGTCATCAGTAATGTTAAAAAAATTAATTGGGAGACCATTAGGTTGAAACGGCCCCAGCATTCTGTGTTCCTACATCAGCAAACCAAAACCCAACTTAGAGAAACTTAACTAATCACAAACTGCCCACTAACCTGTAATCAGGGACTTTCCACTT
TTGGGTTGCTGAACACTTTGAGGTGCTGGGAGAGTGGTGCGTCTAGAGAGAGCATAGAAACTCTTCCCCCGACCCCATACTGTGCTTCTCTTCCATGTGGCAGTTCCTGAGCTGCATCCTTCATTTTAAAGCTGTGATTGTAAGTACAGGATTTTGGCAAAAGTGTGGGTAGCCTGGGCACCACATTTCCAGCTGGCATCTGAAGACGGGGAAGCCTTGTGGGACTGAACCCGTGGAGTCTGTGTGAATTCTGGATAGTGTCAGAATTCAATTGAATTCTTGGACAACCCATTAATATAGGAGAATTGGTTGGTGCCAAAACAACAACAACAAAAAACCAAAACACACATTTGGTGTCAGAAGTGCTGTCAAGAAAAAAGATACCAGAGTGCTAACCCCAGGTACCTCATAATGTGGCCTTGTTTAGGAACAGGGTCATTGCAGATGTGATTAGTTGAGATGAGGTCACATGGGAGCAAGGTAGGCACCTAATCCAATCCAGTTGGTATCCTTATAAGATGGCCATGTAAGACAGGCAGAATGCCATGTGCAGACGAAGGATCAGCAGGAAGCATCTACAAGTCAAGGAGTGCCCAAGCACCTACAGGTTTCAGAGGGAGCATGGCCCTGCCAACACCTTGATTTTGGACTTCCAGCCTTCAGAGCTGTGAGATATAAATGGCTGTTGTCTAAGCTGCCCAGTTAGTGGTATTTTGTTATGGCAGCCCTAGTAAATGAATGCACGCTTGCCACTAGGATGCAAACCCAGGCCTCCTGACCCAGTCTAGAAGCCTTCCTCCTATTCAGGGTGGCTGCCTACCTATTTCTGCCAACAAAGGCTGCCCTGAGATGATCTGAGAGCTGTGAGTTTGTCCCTCCCCATGGACTGGACCAGCCTCACCATCCCCTGCCTGCTTTTGGCTACAGCATCAAGAGCCAGGCATGGCTGCCACAGCACAAGGCTATTGGCTGACTTGGAGACCACTCAGAGGAAGATGGGGCAGCTCTAGTTACCAGAAAATGCTAATTTGAAGGAAAATTTGATTTTCTACCAAGCAAATACACGACCGTGCAAACAGCCAATTTTCAGAAGCTGATTTTCCATGCTACAGATTACTTAGATATTTATTCAGTGCCCACCAAAGGTCAGGCACTATTCTGGGCACTGGGACTGTCACAGTTAACAAAATAGACCACATGCATGCTCTCTGGGCTCATATTCTACTAAGGGCAGAGAGTCAGTAAATACATGCATAAGATACATCATTGTATCAGATGGTGAAGAATGTTCCCCAAAATAAAGTAGGGTAAGGGGACAGGAACCCTGGAGGAATGTTGTTTACAGAGCCATAGTTATGTAGATCTCTTCAGTCTGGAAAGATCCCTGTGATAATGGGACATTTGAACAGAGACCTTAACAAAGTAAGGAAGCAAGCCTGCAGATATGAGGGGCGGGTTGCAGGTTGTGGGGAGAGAAATGTGCTTCTGGCATGAGAACAGCAGGTGGAAAGGCCCTGAAGAGGAAATGCGCTCGGTGTATTAAACAGTCAGTAAGGAGGCCGACGTGGCTGGAGCAGAGGAACATGGAGGAGTAGGGAAAATCGTAAGATGAAGAAGAGAGTTGGAGGCCGGATAATGAAGCAGCTTGGAGGCCAGGGTTGAGACACTGGGTTTTACTCTGAAAGAGAGGAAAAGCCAGTGCAAGCATTTGACAGAGAGGGCTGACACCACATGACCTTGATTCTGAAAGGATCTCCCTGAATACAGTGTGCAGAATGGACTGATGGGAGGTGGTAGTGGAAGGAAGAGACTGGCATTGGGAAGGTTGTGGTGGAGGTGGTGACAAGAGATCAGATTCTGGATTTGTTTCTCAAGTAGAGCCAGTAGGATTTGCTGGTGGATTTTTAACTTCTAGATTTAAACTTCAAATGCTGGTTCTGACAAAGAGCTTGGAAGAAATGAAATTTAAACTAGATGAATGGAGAGGGCTGGGGATCTGAAGAACTCAATTACCTTTACCCTATAGAGGAGGATGCTTACCTGGAAACGCCTGATCAAGGTACCAAGCGAGTAAGCCATAGACAGCAGCATCAAGGAGCATCATCTGCATGGACAGCAGGAAGCTGAATTCGTCCCCTTCCGTGGGACTGTTCCCGATGTTGCTCCACTGCAGCCCCAGGCCTTGCTCTTCAAAGCGAACCAGGTACTCAGTGCCAAATCCAAATGCCACCGGAGACAGTAAGCTCTGCAGTGAGGCGGAGAGGGCACAGAAAAAGAGCAGTGCCTTTTATCCAATGCAACAGCACCCAGATGCCCTCGAGGTAGAGGGGAGGGCCAAAAGAGGGTCCCCATTGTCTCTCAGTGTAAGGTCAGCTCAGGAGGGTGAAGGCAGTCTTTCCCTTGACGGCCAGGGGGAGTTCAGAGTGTCTCTCTGCAAACAAGAGAGTCTCTAGCTATACAGTCACAAAAAACATGAAACAATTCTCAGCCCAGCCCTAATCCACAGTTGCTAGACCTATAGCTTCCTAGTGATCTATGTACCCAAGAAGATGGCCTCAAATTCCATCTGCCTACTCAAGGATTACCAAAATAGCCCAACTCTGCCCACAGATGAGTCATAAGGATTTCTTGCCACTTATCCATTGTGATCATTTTAGAAAATTGGGTACTACAAATGGCAGCAATTGATTTCTTATTTAACCTAAGAAATGAAAGGCAGATGCCCTGACACCTCTGGAGCCTAATAAGTGTGAGTCGTGAGAACAAGTCAGACTTTCTGTCTTTTCCCAGTGAGGGCAGGTGGTTGTCCCTTCTTGACTCTACAGCACAGAGACAGGGAGACTCCGGAGGACAAGGGGAACTGCACCCTCCAGGGCCAGAGGCTGATTAGAGGGTGGAAATGGCCCATTTGAAAACAATTAGAGAAAAGACAGTGCTCTTTGTCTGGGTCTGGGAATTGTGAACTAGGAAGTTTCTCAGGCCATCAGAAGTCAGCTTCGGGAGTCCTCTCCTGGCCAGCGAGCCTGACTCTGTGGACAGTCTCATTTCTGCACTTCTTTCTGCAAACATTGGTAGAGCATGTTAAAGATACTTGTGGAAATACTCCAATTCAAGTTTTTTTGAAGCAAAACAAAAACCTTTAATTAATGGAAACATCTCTTTAGACAGATAGTAAAGTGGCAAGCTCCCTCCCTTCTGATTCTTCTCAAAGAGTAGGAAAGGAAAACTAGTGAAATGGGCTGCTGGCTCTCTCTTGTGAGTAAATAAAGGGACCCATGAGTTGAACTGGTTTTTTAATGACTTTCCAGGGCAGATGAATCAAGCAGGCGTGGTGAGGAGTCACTGTTGCATCGCTCGGGGTGAGGACTGCTCCCACTTTTGCCCCTGTACATTTTAGCCTCACGTGAACTTTTTAACCTTAGGTCAAAGGCAAAGTGGACCCCCTCAGAGGGCAGGCTGGGCCTCCAGGACTGCTACGGACCCTTCCAAGGAAACGTGTTGTAGGACAGGGGCCAGCCCAAGGGCCTCACCACAGCCTTCTTCAGCTCAGCGGTCATGCGGTCCTGCCAGGCGAAGCACAGGATGTGTGGCAGGTAGAGGGTGAAATAGATGACACCACTACAGGCTGCTGCCAGACTGGCCTTGGAGAAGAAGGTGCTGAGCAGAAAGCACAGCATGATGGTGGCAGTGGAGAAAGCCAACAAGAACAGGAAGAGGATGAATGGGTCGCTGTAATGTAGGATTCTTCCATGCTGAAACCAAGAGGCCATGCGTCAGTAACTCCTGCCCTTGGCCGGACGCCTTCTCATTCTGCCCTAAAGGGCTCTCTCCCACCAGCCTGCAGTTAGTGTCTAAATTTCTACGCACACTCCATGTGCTGAGTTCCTTTAATCCTAGGAATGCCATTTTCCCTGGGAGGAGTAGCACATTAGACTCCTAACAGTCATCAGTAATGTTAAAAAAATTAATTGGGAGACCATTAGGTTGAAACGGCCCCAGCATTCTGTGTTCCTACATCAGCAAACCAAAACCCAACTTAGAGAAACTTAACTAATCACAAACTGCCCACTAACCTGTAATCAGGGACTTTCCACTT
Task1_train_1271
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?
Pathogenic; Stargardt disease
AAACTCTTCCCCCGACCCCATACTGTGCTTCTCTTCCATGTGGCAGTTCCTGAGCTGCATCCTTCATTTTAAAGCTGTGATTGTAAGTACAGGATTTTGGCAAAAGTGTGGGTAGCCTGGGCACCACATTTCCAGCTGGCATCTGAAGACGGGGAAGCCTTGTGGGACTGAACCCGTGGAGTCTGTGTGAATTCTGGATAGTGTCAGAATTCAATTGAATTCTTGGACAACCCATTAATATAGGAGAATTGGTTGGTGCCAAAACAACAACAACAAAAAACCAAAACACACATTTGGTGTCAGAAGTGCTGTCAAGAAAAAAGATACCAGAGTGCTAACCCCAGGTACCTCATAATGTGGCCTTGTTTAGGAACAGGGTCATTGCAGATGTGATTAGTTGAGATGAGGTCACATGGGAGCAAGGTAGGCACCTAATCCAATCCAGTTGGTATCCTTATAAGATGGCCATGTAAGACAGGCAGAATGCCATGTGCAGACGAAGGATCAGCAGGAAGCATCTACAAGTCAAGGAGTGCCCAAGCACCTACAGGTTTCAGAGGGAGCATGGCCCTGCCAACACCTTGATTTTGGACTTCCAGCCTTCAGAGCTGTGAGATATAAATGGCTGTTGTCTAAGCTGCCCAGTTAGTGGTATTTTGTTATGGCAGCCCTAGTAAATGAATGCACGCTTGCCACTAGGATGCAAACCCAGGCCTCCTGACCCAGTCTAGAAGCCTTCCTCCTATTCAGGGTGGCTGCCTACCTATTTCTGCCAACAAAGGCTGCCCTGAGATGATCTGAGAGCTGTGAGTTTGTCCCTCCCCATGGACTGGACCAGCCTCACCATCCCCTGCCTGCTTTTGGCTACAGCATCAAGAGCCAGGCATGGCTGCCACAGCACAAGGCTATTGGCTGACTTGGAGACCACTCAGAGGAAGATGGGGCAGCTCTAGTTACCAGAAAATGCTAATTTGAAGGAAAATTTGATTTTCTACCAAGCAAATACACGACCGTGCAAACAGCCAATTTTCAGAAGCTGATTTTCCATGCTACAGATTACTTAGATATTTATTCAGTGCCCACCAAAGGTCAGGCACTATTCTGGGCACTGGGACTGTCACAGTTAACAAAATAGACCACATGCATGCTCTCTGGGCTCATATTCTACTAAGGGCAGAGAGTCAGTAAATACATGCATAAGATACATCATTGTATCAGATGGTGAAGAATGTTCCCCAAAATAAAGTAGGGTAAGGGGACAGGAACCCTGGAGGAATGTTGTTTACAGAGCCATAGTTATGTAGATCTCTTCAGTCTGGAAAGATCCCTGTGATAATGGGACATTTGAACAGAGACCTTAACAAAGTAAGGAAGCAAGCCTGCAGATATGAGGGGCGGGTTGCAGGTTGTGGGGAGAGAAATGTGCTTCTGGCATGAGAACAGCAGGTGGAAAGGCCCTGAAGAGGAAATGCGCTCGGTGTATTAAACAGTCAGTAAGGAGGCCGACGTGGCTGGAGCAGAGGAACATGGAGGAGTAGGGAAAATCGTAAGATGAAGAAGAGAGTTGGAGGCCGGATAATGAAGCAGCTTGGAGGCCAGGGTTGAGACACTGGGTTTTACTCTGAAAGAGAGGAAAAGCCAGTGCAAGCATTTGACAGAGAGGGCTGACACCACATGACCTTGATTCTGAAAGGATCTCCCTGAATACAGTGTGCAGAATGGACTGATGGGAGGTGGTAGTGGAAGGAAGAGACTGGCATTGGGAAGGTTGTGGTGGAGGTGGTGACAAGAGATCAGATTCTGGATTTGTTTCTCAAGTAGAGCCAGTAGGATTTGCTGGTGGATTTTTAACTTCTAGATTTAAACTTCAAATGCTGGTTCTGACAAAGAGCTTGGAAGAAATGAAATTTAAACTAGATGAATGGAGAGGGCTGGGGATCTGAAGAACTCAATTACCTTTACCCTATAGAGGAGGATGCTTACCTGGAAACACCTGATCAAGGTACCAAGCGAGTAAGCCATAGACAGCAGCATCAAGGAGCATCATCTGCATGGACAGCAGGAAGCTGAATTCGTCCCCTTCCGTGGGACTGTTCCCGATGTTGCTCCACTGCAGCCCCAGGCCTTGCTCTTCAAAGCGAACCAGGTACTCAGTGCCAAATCCAAATGCCACCGGAGACAGTAAGCTCTGCAGTGAGGCGGAGAGGGCACAGAAAAAGAGCAGTGCCTTTTATCCAATGCAACAGCACCCAGATGCCCTCGAGGTAGAGGGGAGGGCCAAAAGAGGGTCCCCATTGTCTCTCAGTGTAAGGTCAGCTCAGGAGGGTGAAGGCAGTCTTTCCCTTGACGGCCAGGGGGAGTTCAGAGTGTCTCTCTGCAAACAAGAGAGTCTCTAGCTATACAGTCACAAAAAACATGAAACAATTCTCAGCCCAGCCCTAATCCACAGTTGCTAGACCTATAGCTTCCTAGTGATCTATGTACCCAAGAAGATGGCCTCAAATTCCATCTGCCTACTCAAGGATTACCAAAATAGCCCAACTCTGCCCACAGATGAGTCATAAGGATTTCTTGCCACTTATCCATTGTGATCATTTTAGAAAATTGGGTACTACAAATGGCAGCAATTGATTTCTTATTTAACCTAAGAAATGAAAGGCAGATGCCCTGACACCTCTGGAGCCTAATAAGTGTGAGTCGTGAGAACAAGTCAGACTTTCTGTCTTTTCCCAGTGAGGGCAGGTGGTTGTCCCTTCTTGACTCTACAGCACAGAGACAGGGAGACTCCGGAGGACAAGGGGAACTGCACCCTCCAGGGCCAGAGGCTGATTAGAGGGTGGAAATGGCCCATTTGAAAACAATTAGAGAAAAGACAGTGCTCTTTGTCTGGGTCTGGGAATTGTGAACTAGGAAGTTTCTCAGGCCATCAGAAGTCAGCTTCGGGAGTCCTCTCCTGGCCAGCGAGCCTGACTCTGTGGACAGTCTCATTTCTGCACTTCTTTCTGCAAACATTGGTAGAGCATGTTAAAGATACTTGTGGAAATACTCCAATTCAAGTTTTTTTGAAGCAAAACAAAAACCTTTAATTAATGGAAACATCTCTTTAGACAGATAGTAAAGTGGCAAGCTCCCTCCCTTCTGATTCTTCTCAAAGAGTAGGAAAGGAAAACTAGTGAAATGGGCTGCTGGCTCTCTCTTGTGAGTAAATAAAGGGACCCATGAGTTGAACTGGTTTTTTAATGACTTTCCAGGGCAGATGAATCAAGCAGGCGTGGTGAGGAGTCACTGTTGCATCGCTCGGGGTGAGGACTGCTCCCACTTTTGCCCCTGTACATTTTAGCCTCACGTGAACTTTTTAACCTTAGGTCAAAGGCAAAGTGGACCCCCTCAGAGGGCAGGCTGGGCCTCCAGGACTGCTACGGACCCTTCCAAGGAAACGTGTTGTAGGACAGGGGCCAGCCCAAGGGCCTCACCACAGCCTTCTTCAGCTCAGCGGTCATGCGGTCCTGCCAGGCGAAGCACAGGATGTGTGGCAGGTAGAGGGTGAAATAGATGACACCACTACAGGCTGCTGCCAGACTGGCCTTGGAGAAGAAGGTGCTGAGCAGAAAGCACAGCATGATGGTGGCAGTGGAGAAAGCCAACAAGAACAGGAAGAGGATGAATGGGTCGCTGTAATGTAGGATTCTTCCATGCTGAAACCAAGAGGCCATGCGTCAGTAACTCCTGCCCTTGGCCGGACGCCTTCTCATTCTGCCCTAAAGGGCTCTCTCCCACCAGCCTGCAGTTAGTGTCTAAATTTCTACGCACACTCCATGTGCTGAGTTCCTTTAATCCTAGGAATGCCATTTTCCCTGGGAGGAGTAGCACATTAGACTCCTAACAGTCATCAGTAATGTTAAAAAAATTAATTGGGAGACCATTAGGTTGAAACGGCCCCAGCATTCTGTGTTCCTACATCAGCAAACCAAAACCCAACTTAGAGAAACTTAACTAATCACAAACTGCCCACTAACCTGTAATCAGGGACTTTCCACTTGAACCAATCAAATATTTGCTTTGTTTTTCTTTGTCTTGCTTCCCTACCCCTCAGTGG
AAACTCTTCCCCCGACCCCATACTGTGCTTCTCTTCCATGTGGCAGTTCCTGAGCTGCATCCTTCATTTTAAAGCTGTGATTGTAAGTACAGGATTTTGGCAAAAGTGTGGGTAGCCTGGGCACCACATTTCCAGCTGGCATCTGAAGACGGGGAAGCCTTGTGGGACTGAACCCGTGGAGTCTGTGTGAATTCTGGATAGTGTCAGAATTCAATTGAATTCTTGGACAACCCATTAATATAGGAGAATTGGTTGGTGCCAAAACAACAACAACAAAAAACCAAAACACACATTTGGTGTCAGAAGTGCTGTCAAGAAAAAAGATACCAGAGTGCTAACCCCAGGTACCTCATAATGTGGCCTTGTTTAGGAACAGGGTCATTGCAGATGTGATTAGTTGAGATGAGGTCACATGGGAGCAAGGTAGGCACCTAATCCAATCCAGTTGGTATCCTTATAAGATGGCCATGTAAGACAGGCAGAATGCCATGTGCAGACGAAGGATCAGCAGGAAGCATCTACAAGTCAAGGAGTGCCCAAGCACCTACAGGTTTCAGAGGGAGCATGGCCCTGCCAACACCTTGATTTTGGACTTCCAGCCTTCAGAGCTGTGAGATATAAATGGCTGTTGTCTAAGCTGCCCAGTTAGTGGTATTTTGTTATGGCAGCCCTAGTAAATGAATGCACGCTTGCCACTAGGATGCAAACCCAGGCCTCCTGACCCAGTCTAGAAGCCTTCCTCCTATTCAGGGTGGCTGCCTACCTATTTCTGCCAACAAAGGCTGCCCTGAGATGATCTGAGAGCTGTGAGTTTGTCCCTCCCCATGGACTGGACCAGCCTCACCATCCCCTGCCTGCTTTTGGCTACAGCATCAAGAGCCAGGCATGGCTGCCACAGCACAAGGCTATTGGCTGACTTGGAGACCACTCAGAGGAAGATGGGGCAGCTCTAGTTACCAGAAAATGCTAATTTGAAGGAAAATTTGATTTTCTACCAAGCAAATACACGACCGTGCAAACAGCCAATTTTCAGAAGCTGATTTTCCATGCTACAGATTACTTAGATATTTATTCAGTGCCCACCAAAGGTCAGGCACTATTCTGGGCACTGGGACTGTCACAGTTAACAAAATAGACCACATGCATGCTCTCTGGGCTCATATTCTACTAAGGGCAGAGAGTCAGTAAATACATGCATAAGATACATCATTGTATCAGATGGTGAAGAATGTTCCCCAAAATAAAGTAGGGTAAGGGGACAGGAACCCTGGAGGAATGTTGTTTACAGAGCCATAGTTATGTAGATCTCTTCAGTCTGGAAAGATCCCTGTGATAATGGGACATTTGAACAGAGACCTTAACAAAGTAAGGAAGCAAGCCTGCAGATATGAGGGGCGGGTTGCAGGTTGTGGGGAGAGAAATGTGCTTCTGGCATGAGAACAGCAGGTGGAAAGGCCCTGAAGAGGAAATGCGCTCGGTGTATTAAACAGTCAGTAAGGAGGCCGACGTGGCTGGAGCAGAGGAACATGGAGGAGTAGGGAAAATCGTAAGATGAAGAAGAGAGTTGGAGGCCGGATAATGAAGCAGCTTGGAGGCCAGGGTTGAGACACTGGGTTTTACTCTGAAAGAGAGGAAAAGCCAGTGCAAGCATTTGACAGAGAGGGCTGACACCACATGACCTTGATTCTGAAAGGATCTCCCTGAATACAGTGTGCAGAATGGACTGATGGGAGGTGGTAGTGGAAGGAAGAGACTGGCATTGGGAAGGTTGTGGTGGAGGTGGTGACAAGAGATCAGATTCTGGATTTGTTTCTCAAGTAGAGCCAGTAGGATTTGCTGGTGGATTTTTAACTTCTAGATTTAAACTTCAAATGCTGGTTCTGACAAAGAGCTTGGAAGAAATGAAATTTAAACTAGATGAATGGAGAGGGCTGGGGATCTGAAGAACTCAATTACCTTTACCCTATAGAGGAGGATGCTTACCTGGAAACACCTGATCAAGGTACCAAGCGAGTAAGCCATAGACAGCAGCATCAAGGAGCATCATCGGCATGGACAGCAGGAAGCTGAATTCGTCCCCTTCCGTGGGACTGTTCCCGATGTTGCTCCACTGCAGCCCCAGGCCTTGCTCTTCAAAGCGAACCAGGTACTCAGTGCCAAATCCAAATGCCACCGGAGACAGTAAGCTCTGCAGTGAGGCGGAGAGGGCACAGAAAAAGAGCAGTGCCTTTTATCCAATGCAACAGCACCCAGATGCCCTCGAGGTAGAGGGGAGGGCCAAAAGAGGGTCCCCATTGTCTCTCAGTGTAAGGTCAGCTCAGGAGGGTGAAGGCAGTCTTTCCCTTGACGGCCAGGGGGAGTTCAGAGTGTCTCTCTGCAAACAAGAGAGTCTCTAGCTATACAGTCACAAAAAACATGAAACAATTCTCAGCCCAGCCCTAATCCACAGTTGCTAGACCTATAGCTTCCTAGTGATCTATGTACCCAAGAAGATGGCCTCAAATTCCATCTGCCTACTCAAGGATTACCAAAATAGCCCAACTCTGCCCACAGATGAGTCATAAGGATTTCTTGCCACTTATCCATTGTGATCATTTTAGAAAATTGGGTACTACAAATGGCAGCAATTGATTTCTTATTTAACCTAAGAAATGAAAGGCAGATGCCCTGACACCTCTGGAGCCTAATAAGTGTGAGTCGTGAGAACAAGTCAGACTTTCTGTCTTTTCCCAGTGAGGGCAGGTGGTTGTCCCTTCTTGACTCTACAGCACAGAGACAGGGAGACTCCGGAGGACAAGGGGAACTGCACCCTCCAGGGCCAGAGGCTGATTAGAGGGTGGAAATGGCCCATTTGAAAACAATTAGAGAAAAGACAGTGCTCTTTGTCTGGGTCTGGGAATTGTGAACTAGGAAGTTTCTCAGGCCATCAGAAGTCAGCTTCGGGAGTCCTCTCCTGGCCAGCGAGCCTGACTCTGTGGACAGTCTCATTTCTGCACTTCTTTCTGCAAACATTGGTAGAGCATGTTAAAGATACTTGTGGAAATACTCCAATTCAAGTTTTTTTGAAGCAAAACAAAAACCTTTAATTAATGGAAACATCTCTTTAGACAGATAGTAAAGTGGCAAGCTCCCTCCCTTCTGATTCTTCTCAAAGAGTAGGAAAGGAAAACTAGTGAAATGGGCTGCTGGCTCTCTCTTGTGAGTAAATAAAGGGACCCATGAGTTGAACTGGTTTTTTAATGACTTTCCAGGGCAGATGAATCAAGCAGGCGTGGTGAGGAGTCACTGTTGCATCGCTCGGGGTGAGGACTGCTCCCACTTTTGCCCCTGTACATTTTAGCCTCACGTGAACTTTTTAACCTTAGGTCAAAGGCAAAGTGGACCCCCTCAGAGGGCAGGCTGGGCCTCCAGGACTGCTACGGACCCTTCCAAGGAAACGTGTTGTAGGACAGGGGCCAGCCCAAGGGCCTCACCACAGCCTTCTTCAGCTCAGCGGTCATGCGGTCCTGCCAGGCGAAGCACAGGATGTGTGGCAGGTAGAGGGTGAAATAGATGACACCACTACAGGCTGCTGCCAGACTGGCCTTGGAGAAGAAGGTGCTGAGCAGAAAGCACAGCATGATGGTGGCAGTGGAGAAAGCCAACAAGAACAGGAAGAGGATGAATGGGTCGCTGTAATGTAGGATTCTTCCATGCTGAAACCAAGAGGCCATGCGTCAGTAACTCCTGCCCTTGGCCGGACGCCTTCTCATTCTGCCCTAAAGGGCTCTCTCCCACCAGCCTGCAGTTAGTGTCTAAATTTCTACGCACACTCCATGTGCTGAGTTCCTTTAATCCTAGGAATGCCATTTTCCCTGGGAGGAGTAGCACATTAGACTCCTAACAGTCATCAGTAATGTTAAAAAAATTAATTGGGAGACCATTAGGTTGAAACGGCCCCAGCATTCTGTGTTCCTACATCAGCAAACCAAAACCCAACTTAGAGAAACTTAACTAATCACAAACTGCCCACTAACCTGTAATCAGGGACTTTCCACTTGAACCAATCAAATATTTGCTTTGTTTTTCTTTGTCTTGCTTCCCTACCCCTCAGTGG
Task1_train_1272
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?
Pathogenic; Severe early-childhood-onset retinal dystrophy
CTTCATTTTAAAGCTGTGATTGTAAGTACAGGATTTTGGCAAAAGTGTGGGTAGCCTGGGCACCACATTTCCAGCTGGCATCTGAAGACGGGGAAGCCTTGTGGGACTGAACCCGTGGAGTCTGTGTGAATTCTGGATAGTGTCAGAATTCAATTGAATTCTTGGACAACCCATTAATATAGGAGAATTGGTTGGTGCCAAAACAACAACAACAAAAAACCAAAACACACATTTGGTGTCAGAAGTGCTGTCAAGAAAAAAGATACCAGAGTGCTAACCCCAGGTACCTCATAATGTGGCCTTGTTTAGGAACAGGGTCATTGCAGATGTGATTAGTTGAGATGAGGTCACATGGGAGCAAGGTAGGCACCTAATCCAATCCAGTTGGTATCCTTATAAGATGGCCATGTAAGACAGGCAGAATGCCATGTGCAGACGAAGGATCAGCAGGAAGCATCTACAAGTCAAGGAGTGCCCAAGCACCTACAGGTTTCAGAGGGAGCATGGCCCTGCCAACACCTTGATTTTGGACTTCCAGCCTTCAGAGCTGTGAGATATAAATGGCTGTTGTCTAAGCTGCCCAGTTAGTGGTATTTTGTTATGGCAGCCCTAGTAAATGAATGCACGCTTGCCACTAGGATGCAAACCCAGGCCTCCTGACCCAGTCTAGAAGCCTTCCTCCTATTCAGGGTGGCTGCCTACCTATTTCTGCCAACAAAGGCTGCCCTGAGATGATCTGAGAGCTGTGAGTTTGTCCCTCCCCATGGACTGGACCAGCCTCACCATCCCCTGCCTGCTTTTGGCTACAGCATCAAGAGCCAGGCATGGCTGCCACAGCACAAGGCTATTGGCTGACTTGGAGACCACTCAGAGGAAGATGGGGCAGCTCTAGTTACCAGAAAATGCTAATTTGAAGGAAAATTTGATTTTCTACCAAGCAAATACACGACCGTGCAAACAGCCAATTTTCAGAAGCTGATTTTCCATGCTACAGATTACTTAGATATTTATTCAGTGCCCACCAAAGGTCAGGCACTATTCTGGGCACTGGGACTGTCACAGTTAACAAAATAGACCACATGCATGCTCTCTGGGCTCATATTCTACTAAGGGCAGAGAGTCAGTAAATACATGCATAAGATACATCATTGTATCAGATGGTGAAGAATGTTCCCCAAAATAAAGTAGGGTAAGGGGACAGGAACCCTGGAGGAATGTTGTTTACAGAGCCATAGTTATGTAGATCTCTTCAGTCTGGAAAGATCCCTGTGATAATGGGACATTTGAACAGAGACCTTAACAAAGTAAGGAAGCAAGCCTGCAGATATGAGGGGCGGGTTGCAGGTTGTGGGGAGAGAAATGTGCTTCTGGCATGAGAACAGCAGGTGGAAAGGCCCTGAAGAGGAAATGCGCTCGGTGTATTAAACAGTCAGTAAGGAGGCCGACGTGGCTGGAGCAGAGGAACATGGAGGAGTAGGGAAAATCGTAAGATGAAGAAGAGAGTTGGAGGCCGGATAATGAAGCAGCTTGGAGGCCAGGGTTGAGACACTGGGTTTTACTCTGAAAGAGAGGAAAAGCCAGTGCAAGCATTTGACAGAGAGGGCTGACACCACATGACCTTGATTCTGAAAGGATCTCCCTGAATACAGTGTGCAGAATGGACTGATGGGAGGTGGTAGTGGAAGGAAGAGACTGGCATTGGGAAGGTTGTGGTGGAGGTGGTGACAAGAGATCAGATTCTGGATTTGTTTCTCAAGTAGAGCCAGTAGGATTTGCTGGTGGATTTTTAACTTCTAGATTTAAACTTCAAATGCTGGTTCTGACAAAGAGCTTGGAAGAAATGAAATTTAAACTAGATGAATGGAGAGGGCTGGGGATCTGAAGAACTCAATTACCTTTACCCTATAGAGGAGGATGCTTACCTGGAAACACCTGATCAAGGTACCAAGCGAGTAAGCCATAGACAGCAGCATCAAGGAGCATCATCTGCATGGACAGCAGGAAGCTGAATTCGTCCCCTTCCGTGGGACTGTTCCCGATGTTGCTCCACTGCAGCCCCAGGCCTTGCTCTTCAAAGCGAACCAGGTACTCAGTGCCAAATCCAAATGCCACCGGAGACAGTAAGCTCTGCAGTGAGGCGGAGAGGGCACAGAAAAAGAGCAGTGCCTTTTATCCAATGCAACAGCACCCAGATGCCCTCGAGGTAGAGGGGAGGGCCAAAAGAGGGTCCCCATTGTCTCTCAGTGTAAGGTCAGCTCAGGAGGGTGAAGGCAGTCTTTCCCTTGACGGCCAGGGGGAGTTCAGAGTGTCTCTCTGCAAACAAGAGAGTCTCTAGCTATACAGTCACAAAAAACATGAAACAATTCTCAGCCCAGCCCTAATCCACAGTTGCTAGACCTATAGCTTCCTAGTGATCTATGTACCCAAGAAGATGGCCTCAAATTCCATCTGCCTACTCAAGGATTACCAAAATAGCCCAACTCTGCCCACAGATGAGTCATAAGGATTTCTTGCCACTTATCCATTGTGATCATTTTAGAAAATTGGGTACTACAAATGGCAGCAATTGATTTCTTATTTAACCTAAGAAATGAAAGGCAGATGCCCTGACACCTCTGGAGCCTAATAAGTGTGAGTCGTGAGAACAAGTCAGACTTTCTGTCTTTTCCCAGTGAGGGCAGGTGGTTGTCCCTTCTTGACTCTACAGCACAGAGACAGGGAGACTCCGGAGGACAAGGGGAACTGCACCCTCCAGGGCCAGAGGCTGATTAGAGGGTGGAAATGGCCCATTTGAAAACAATTAGAGAAAAGACAGTGCTCTTTGTCTGGGTCTGGGAATTGTGAACTAGGAAGTTTCTCAGGCCATCAGAAGTCAGCTTCGGGAGTCCTCTCCTGGCCAGCGAGCCTGACTCTGTGGACAGTCTCATTTCTGCACTTCTTTCTGCAAACATTGGTAGAGCATGTTAAAGATACTTGTGGAAATACTCCAATTCAAGTTTTTTTGAAGCAAAACAAAAACCTTTAATTAATGGAAACATCTCTTTAGACAGATAGTAAAGTGGCAAGCTCCCTCCCTTCTGATTCTTCTCAAAGAGTAGGAAAGGAAAACTAGTGAAATGGGCTGCTGGCTCTCTCTTGTGAGTAAATAAAGGGACCCATGAGTTGAACTGGTTTTTTAATGACTTTCCAGGGCAGATGAATCAAGCAGGCGTGGTGAGGAGTCACTGTTGCATCGCTCGGGGTGAGGACTGCTCCCACTTTTGCCCCTGTACATTTTAGCCTCACGTGAACTTTTTAACCTTAGGTCAAAGGCAAAGTGGACCCCCTCAGAGGGCAGGCTGGGCCTCCAGGACTGCTACGGACCCTTCCAAGGAAACGTGTTGTAGGACAGGGGCCAGCCCAAGGGCCTCACCACAGCCTTCTTCAGCTCAGCGGTCATGCGGTCCTGCCAGGCGAAGCACAGGATGTGTGGCAGGTAGAGGGTGAAATAGATGACACCACTACAGGCTGCTGCCAGACTGGCCTTGGAGAAGAAGGTGCTGAGCAGAAAGCACAGCATGATGGTGGCAGTGGAGAAAGCCAACAAGAACAGGAAGAGGATGAATGGGTCGCTGTAATGTAGGATTCTTCCATGCTGAAACCAAGAGGCCATGCGTCAGTAACTCCTGCCCTTGGCCGGACGCCTTCTCATTCTGCCCTAAAGGGCTCTCTCCCACCAGCCTGCAGTTAGTGTCTAAATTTCTACGCACACTCCATGTGCTGAGTTCCTTTAATCCTAGGAATGCCATTTTCCCTGGGAGGAGTAGCACATTAGACTCCTAACAGTCATCAGTAATGTTAAAAAAATTAATTGGGAGACCATTAGGTTGAAACGGCCCCAGCATTCTGTGTTCCTACATCAGCAAACCAAAACCCAACTTAGAGAAACTTAACTAATCACAAACTGCCCACTAACCTGTAATCAGGGACTTTCCACTTGAACCAATCAAATATTTGCTTTGTTTTTCTTTGTCTTGCTTCCCTACCCCTCAGTGGGGCCCTGAACCACTTGTGATCTGGAGCCTCCTGTGAATCACTGTTTGCTGGAATCAACTCT
CTTCATTTTAAAGCTGTGATTGTAAGTACAGGATTTTGGCAAAAGTGTGGGTAGCCTGGGCACCACATTTCCAGCTGGCATCTGAAGACGGGGAAGCCTTGTGGGACTGAACCCGTGGAGTCTGTGTGAATTCTGGATAGTGTCAGAATTCAATTGAATTCTTGGACAACCCATTAATATAGGAGAATTGGTTGGTGCCAAAACAACAACAACAAAAAACCAAAACACACATTTGGTGTCAGAAGTGCTGTCAAGAAAAAAGATACCAGAGTGCTAACCCCAGGTACCTCATAATGTGGCCTTGTTTAGGAACAGGGTCATTGCAGATGTGATTAGTTGAGATGAGGTCACATGGGAGCAAGGTAGGCACCTAATCCAATCCAGTTGGTATCCTTATAAGATGGCCATGTAAGACAGGCAGAATGCCATGTGCAGACGAAGGATCAGCAGGAAGCATCTACAAGTCAAGGAGTGCCCAAGCACCTACAGGTTTCAGAGGGAGCATGGCCCTGCCAACACCTTGATTTTGGACTTCCAGCCTTCAGAGCTGTGAGATATAAATGGCTGTTGTCTAAGCTGCCCAGTTAGTGGTATTTTGTTATGGCAGCCCTAGTAAATGAATGCACGCTTGCCACTAGGATGCAAACCCAGGCCTCCTGACCCAGTCTAGAAGCCTTCCTCCTATTCAGGGTGGCTGCCTACCTATTTCTGCCAACAAAGGCTGCCCTGAGATGATCTGAGAGCTGTGAGTTTGTCCCTCCCCATGGACTGGACCAGCCTCACCATCCCCTGCCTGCTTTTGGCTACAGCATCAAGAGCCAGGCATGGCTGCCACAGCACAAGGCTATTGGCTGACTTGGAGACCACTCAGAGGAAGATGGGGCAGCTCTAGTTACCAGAAAATGCTAATTTGAAGGAAAATTTGATTTTCTACCAAGCAAATACACGACCGTGCAAACAGCCAATTTTCAGAAGCTGATTTTCCATGCTACAGATTACTTAGATATTTATTCAGTGCCCACCAAAGGTCAGGCACTATTCTGGGCACTGGGACTGTCACAGTTAACAAAATAGACCACATGCATGCTCTCTGGGCTCATATTCTACTAAGGGCAGAGAGTCAGTAAATACATGCATAAGATACATCATTGTATCAGATGGTGAAGAATGTTCCCCAAAATAAAGTAGGGTAAGGGGACAGGAACCCTGGAGGAATGTTGTTTACAGAGCCATAGTTATGTAGATCTCTTCAGTCTGGAAAGATCCCTGTGATAATGGGACATTTGAACAGAGACCTTAACAAAGTAAGGAAGCAAGCCTGCAGATATGAGGGGCGGGTTGCAGGTTGTGGGGAGAGAAATGTGCTTCTGGCATGAGAACAGCAGGTGGAAAGGCCCTGAAGAGGAAATGCGCTCGGTGTATTAAACAGTCAGTAAGGAGGCCGACGTGGCTGGAGCAGAGGAACATGGAGGAGTAGGGAAAATCGTAAGATGAAGAAGAGAGTTGGAGGCCGGATAATGAAGCAGCTTGGAGGCCAGGGTTGAGACACTGGGTTTTACTCTGAAAGAGAGGAAAAGCCAGTGCAAGCATTTGACAGAGAGGGCTGACACCACATGACCTTGATTCTGAAAGGATCTCCCTGAATACAGTGTGCAGAATGGACTGATGGGAGGTGGTAGTGGAAGGAAGAGACTGGCATTGGGAAGGTTGTGGTGGAGGTGGTGACAAGAGATCAGATTCTGGATTTGTTTCTCAAGTAGAGCCAGTAGGATTTGCTGGTGGATTTTTAACTTCTAGATTTAAACTTCAAATGCTGGTTCTGACAAAGAGCTTGGAAGAAATGAAATTTAAACTAGATGAATGGAGAGGGCTGGGGATCTGAAGAACTCAATTACCTTTACCCTATAGAGGAGGATGCTTACCTGGAAACACCTGATCAAGGTACCAAGCGAGTAAGCCATAGACAGCAGCATCAAGGAGCATCATCTGCATGGACAGCAGGAAGCTGAATTCGTCCCCTTCCGTGGGACTGTTCCCGATGTTGCTCCGCTGCAGCCCCAGGCCTTGCTCTTCAAAGCGAACCAGGTACTCAGTGCCAAATCCAAATGCCACCGGAGACAGTAAGCTCTGCAGTGAGGCGGAGAGGGCACAGAAAAAGAGCAGTGCCTTTTATCCAATGCAACAGCACCCAGATGCCCTCGAGGTAGAGGGGAGGGCCAAAAGAGGGTCCCCATTGTCTCTCAGTGTAAGGTCAGCTCAGGAGGGTGAAGGCAGTCTTTCCCTTGACGGCCAGGGGGAGTTCAGAGTGTCTCTCTGCAAACAAGAGAGTCTCTAGCTATACAGTCACAAAAAACATGAAACAATTCTCAGCCCAGCCCTAATCCACAGTTGCTAGACCTATAGCTTCCTAGTGATCTATGTACCCAAGAAGATGGCCTCAAATTCCATCTGCCTACTCAAGGATTACCAAAATAGCCCAACTCTGCCCACAGATGAGTCATAAGGATTTCTTGCCACTTATCCATTGTGATCATTTTAGAAAATTGGGTACTACAAATGGCAGCAATTGATTTCTTATTTAACCTAAGAAATGAAAGGCAGATGCCCTGACACCTCTGGAGCCTAATAAGTGTGAGTCGTGAGAACAAGTCAGACTTTCTGTCTTTTCCCAGTGAGGGCAGGTGGTTGTCCCTTCTTGACTCTACAGCACAGAGACAGGGAGACTCCGGAGGACAAGGGGAACTGCACCCTCCAGGGCCAGAGGCTGATTAGAGGGTGGAAATGGCCCATTTGAAAACAATTAGAGAAAAGACAGTGCTCTTTGTCTGGGTCTGGGAATTGTGAACTAGGAAGTTTCTCAGGCCATCAGAAGTCAGCTTCGGGAGTCCTCTCCTGGCCAGCGAGCCTGACTCTGTGGACAGTCTCATTTCTGCACTTCTTTCTGCAAACATTGGTAGAGCATGTTAAAGATACTTGTGGAAATACTCCAATTCAAGTTTTTTTGAAGCAAAACAAAAACCTTTAATTAATGGAAACATCTCTTTAGACAGATAGTAAAGTGGCAAGCTCCCTCCCTTCTGATTCTTCTCAAAGAGTAGGAAAGGAAAACTAGTGAAATGGGCTGCTGGCTCTCTCTTGTGAGTAAATAAAGGGACCCATGAGTTGAACTGGTTTTTTAATGACTTTCCAGGGCAGATGAATCAAGCAGGCGTGGTGAGGAGTCACTGTTGCATCGCTCGGGGTGAGGACTGCTCCCACTTTTGCCCCTGTACATTTTAGCCTCACGTGAACTTTTTAACCTTAGGTCAAAGGCAAAGTGGACCCCCTCAGAGGGCAGGCTGGGCCTCCAGGACTGCTACGGACCCTTCCAAGGAAACGTGTTGTAGGACAGGGGCCAGCCCAAGGGCCTCACCACAGCCTTCTTCAGCTCAGCGGTCATGCGGTCCTGCCAGGCGAAGCACAGGATGTGTGGCAGGTAGAGGGTGAAATAGATGACACCACTACAGGCTGCTGCCAGACTGGCCTTGGAGAAGAAGGTGCTGAGCAGAAAGCACAGCATGATGGTGGCAGTGGAGAAAGCCAACAAGAACAGGAAGAGGATGAATGGGTCGCTGTAATGTAGGATTCTTCCATGCTGAAACCAAGAGGCCATGCGTCAGTAACTCCTGCCCTTGGCCGGACGCCTTCTCATTCTGCCCTAAAGGGCTCTCTCCCACCAGCCTGCAGTTAGTGTCTAAATTTCTACGCACACTCCATGTGCTGAGTTCCTTTAATCCTAGGAATGCCATTTTCCCTGGGAGGAGTAGCACATTAGACTCCTAACAGTCATCAGTAATGTTAAAAAAATTAATTGGGAGACCATTAGGTTGAAACGGCCCCAGCATTCTGTGTTCCTACATCAGCAAACCAAAACCCAACTTAGAGAAACTTAACTAATCACAAACTGCCCACTAACCTGTAATCAGGGACTTTCCACTTGAACCAATCAAATATTTGCTTTGTTTTTCTTTGTCTTGCTTCCCTACCCCTCAGTGGGGCCCTGAACCACTTGTGATCTGGAGCCTCCTGTGAATCACTGTTTGCTGGAATCAACTCT
Task1_train_1273
Gene ABCA4 (ATP binding cassette subfamily A member 4), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; Retinal dystrophy
CTTCATTTTAAAGCTGTGATTGTAAGTACAGGATTTTGGCAAAAGTGTGGGTAGCCTGGGCACCACATTTCCAGCTGGCATCTGAAGACGGGGAAGCCTTGTGGGACTGAACCCGTGGAGTCTGTGTGAATTCTGGATAGTGTCAGAATTCAATTGAATTCTTGGACAACCCATTAATATAGGAGAATTGGTTGGTGCCAAAACAACAACAACAAAAAACCAAAACACACATTTGGTGTCAGAAGTGCTGTCAAGAAAAAAGATACCAGAGTGCTAACCCCAGGTACCTCATAATGTGGCCTTGTTTAGGAACAGGGTCATTGCAGATGTGATTAGTTGAGATGAGGTCACATGGGAGCAAGGTAGGCACCTAATCCAATCCAGTTGGTATCCTTATAAGATGGCCATGTAAGACAGGCAGAATGCCATGTGCAGACGAAGGATCAGCAGGAAGCATCTACAAGTCAAGGAGTGCCCAAGCACCTACAGGTTTCAGAGGGAGCATGGCCCTGCCAACACCTTGATTTTGGACTTCCAGCCTTCAGAGCTGTGAGATATAAATGGCTGTTGTCTAAGCTGCCCAGTTAGTGGTATTTTGTTATGGCAGCCCTAGTAAATGAATGCACGCTTGCCACTAGGATGCAAACCCAGGCCTCCTGACCCAGTCTAGAAGCCTTCCTCCTATTCAGGGTGGCTGCCTACCTATTTCTGCCAACAAAGGCTGCCCTGAGATGATCTGAGAGCTGTGAGTTTGTCCCTCCCCATGGACTGGACCAGCCTCACCATCCCCTGCCTGCTTTTGGCTACAGCATCAAGAGCCAGGCATGGCTGCCACAGCACAAGGCTATTGGCTGACTTGGAGACCACTCAGAGGAAGATGGGGCAGCTCTAGTTACCAGAAAATGCTAATTTGAAGGAAAATTTGATTTTCTACCAAGCAAATACACGACCGTGCAAACAGCCAATTTTCAGAAGCTGATTTTCCATGCTACAGATTACTTAGATATTTATTCAGTGCCCACCAAAGGTCAGGCACTATTCTGGGCACTGGGACTGTCACAGTTAACAAAATAGACCACATGCATGCTCTCTGGGCTCATATTCTACTAAGGGCAGAGAGTCAGTAAATACATGCATAAGATACATCATTGTATCAGATGGTGAAGAATGTTCCCCAAAATAAAGTAGGGTAAGGGGACAGGAACCCTGGAGGAATGTTGTTTACAGAGCCATAGTTATGTAGATCTCTTCAGTCTGGAAAGATCCCTGTGATAATGGGACATTTGAACAGAGACCTTAACAAAGTAAGGAAGCAAGCCTGCAGATATGAGGGGCGGGTTGCAGGTTGTGGGGAGAGAAATGTGCTTCTGGCATGAGAACAGCAGGTGGAAAGGCCCTGAAGAGGAAATGCGCTCGGTGTATTAAACAGTCAGTAAGGAGGCCGACGTGGCTGGAGCAGAGGAACATGGAGGAGTAGGGAAAATCGTAAGATGAAGAAGAGAGTTGGAGGCCGGATAATGAAGCAGCTTGGAGGCCAGGGTTGAGACACTGGGTTTTACTCTGAAAGAGAGGAAAAGCCAGTGCAAGCATTTGACAGAGAGGGCTGACACCACATGACCTTGATTCTGAAAGGATCTCCCTGAATACAGTGTGCAGAATGGACTGATGGGAGGTGGTAGTGGAAGGAAGAGACTGGCATTGGGAAGGTTGTGGTGGAGGTGGTGACAAGAGATCAGATTCTGGATTTGTTTCTCAAGTAGAGCCAGTAGGATTTGCTGGTGGATTTTTAACTTCTAGATTTAAACTTCAAATGCTGGTTCTGACAAAGAGCTTGGAAGAAATGAAATTTAAACTAGATGAATGGAGAGGGCTGGGGATCTGAAGAACTCAATTACCTTTACCCTATAGAGGAGGATGCTTACCTGGAAACACCTGATCAAGGTACCAAGCGAGTAAGCCATAGACAGCAGCATCAAGGAGCATCATCTGCATGGACAGCAGGAAGCTGAATTCGTCCCCTTCCGTGGGACTGTTCCCGATGTTGCTCCACTGCAGCCCCAGGCCTTGCTCTTCAAAGCGAACCAGGTACTCAGTGCCAAATCCAAATGCCACCGGAGACAGTAAGCTCTGCAGTGAGGCGGAGAGGGCACAGAAAAAGAGCAGTGCCTTTTATCCAATGCAACAGCACCCAGATGCCCTCGAGGTAGAGGGGAGGGCCAAAAGAGGGTCCCCATTGTCTCTCAGTGTAAGGTCAGCTCAGGAGGGTGAAGGCAGTCTTTCCCTTGACGGCCAGGGGGAGTTCAGAGTGTCTCTCTGCAAACAAGAGAGTCTCTAGCTATACAGTCACAAAAAACATGAAACAATTCTCAGCCCAGCCCTAATCCACAGTTGCTAGACCTATAGCTTCCTAGTGATCTATGTACCCAAGAAGATGGCCTCAAATTCCATCTGCCTACTCAAGGATTACCAAAATAGCCCAACTCTGCCCACAGATGAGTCATAAGGATTTCTTGCCACTTATCCATTGTGATCATTTTAGAAAATTGGGTACTACAAATGGCAGCAATTGATTTCTTATTTAACCTAAGAAATGAAAGGCAGATGCCCTGACACCTCTGGAGCCTAATAAGTGTGAGTCGTGAGAACAAGTCAGACTTTCTGTCTTTTCCCAGTGAGGGCAGGTGGTTGTCCCTTCTTGACTCTACAGCACAGAGACAGGGAGACTCCGGAGGACAAGGGGAACTGCACCCTCCAGGGCCAGAGGCTGATTAGAGGGTGGAAATGGCCCATTTGAAAACAATTAGAGAAAAGACAGTGCTCTTTGTCTGGGTCTGGGAATTGTGAACTAGGAAGTTTCTCAGGCCATCAGAAGTCAGCTTCGGGAGTCCTCTCCTGGCCAGCGAGCCTGACTCTGTGGACAGTCTCATTTCTGCACTTCTTTCTGCAAACATTGGTAGAGCATGTTAAAGATACTTGTGGAAATACTCCAATTCAAGTTTTTTTGAAGCAAAACAAAAACCTTTAATTAATGGAAACATCTCTTTAGACAGATAGTAAAGTGGCAAGCTCCCTCCCTTCTGATTCTTCTCAAAGAGTAGGAAAGGAAAACTAGTGAAATGGGCTGCTGGCTCTCTCTTGTGAGTAAATAAAGGGACCCATGAGTTGAACTGGTTTTTTAATGACTTTCCAGGGCAGATGAATCAAGCAGGCGTGGTGAGGAGTCACTGTTGCATCGCTCGGGGTGAGGACTGCTCCCACTTTTGCCCCTGTACATTTTAGCCTCACGTGAACTTTTTAACCTTAGGTCAAAGGCAAAGTGGACCCCCTCAGAGGGCAGGCTGGGCCTCCAGGACTGCTACGGACCCTTCCAAGGAAACGTGTTGTAGGACAGGGGCCAGCCCAAGGGCCTCACCACAGCCTTCTTCAGCTCAGCGGTCATGCGGTCCTGCCAGGCGAAGCACAGGATGTGTGGCAGGTAGAGGGTGAAATAGATGACACCACTACAGGCTGCTGCCAGACTGGCCTTGGAGAAGAAGGTGCTGAGCAGAAAGCACAGCATGATGGTGGCAGTGGAGAAAGCCAACAAGAACAGGAAGAGGATGAATGGGTCGCTGTAATGTAGGATTCTTCCATGCTGAAACCAAGAGGCCATGCGTCAGTAACTCCTGCCCTTGGCCGGACGCCTTCTCATTCTGCCCTAAAGGGCTCTCTCCCACCAGCCTGCAGTTAGTGTCTAAATTTCTACGCACACTCCATGTGCTGAGTTCCTTTAATCCTAGGAATGCCATTTTCCCTGGGAGGAGTAGCACATTAGACTCCTAACAGTCATCAGTAATGTTAAAAAAATTAATTGGGAGACCATTAGGTTGAAACGGCCCCAGCATTCTGTGTTCCTACATCAGCAAACCAAAACCCAACTTAGAGAAACTTAACTAATCACAAACTGCCCACTAACCTGTAATCAGGGACTTTCCACTTGAACCAATCAAATATTTGCTTTGTTTTTCTTTGTCTTGCTTCCCTACCCCTCAGTGGGGCCCTGAACCACTTGTGATCTGGAGCCTCCTGTGAATCACTGTTTGCTGGAATCAACTCT
CTTCATTTTAAAGCTGTGATTGTAAGTACAGGATTTTGGCAAAAGTGTGGGTAGCCTGGGCACCACATTTCCAGCTGGCATCTGAAGACGGGGAAGCCTTGTGGGACTGAACCCGTGGAGTCTGTGTGAATTCTGGATAGTGTCAGAATTCAATTGAATTCTTGGACAACCCATTAATATAGGAGAATTGGTTGGTGCCAAAACAACAACAACAAAAAACCAAAACACACATTTGGTGTCAGAAGTGCTGTCAAGAAAAAAGATACCAGAGTGCTAACCCCAGGTACCTCATAATGTGGCCTTGTTTAGGAACAGGGTCATTGCAGATGTGATTAGTTGAGATGAGGTCACATGGGAGCAAGGTAGGCACCTAATCCAATCCAGTTGGTATCCTTATAAGATGGCCATGTAAGACAGGCAGAATGCCATGTGCAGACGAAGGATCAGCAGGAAGCATCTACAAGTCAAGGAGTGCCCAAGCACCTACAGGTTTCAGAGGGAGCATGGCCCTGCCAACACCTTGATTTTGGACTTCCAGCCTTCAGAGCTGTGAGATATAAATGGCTGTTGTCTAAGCTGCCCAGTTAGTGGTATTTTGTTATGGCAGCCCTAGTAAATGAATGCACGCTTGCCACTAGGATGCAAACCCAGGCCTCCTGACCCAGTCTAGAAGCCTTCCTCCTATTCAGGGTGGCTGCCTACCTATTTCTGCCAACAAAGGCTGCCCTGAGATGATCTGAGAGCTGTGAGTTTGTCCCTCCCCATGGACTGGACCAGCCTCACCATCCCCTGCCTGCTTTTGGCTACAGCATCAAGAGCCAGGCATGGCTGCCACAGCACAAGGCTATTGGCTGACTTGGAGACCACTCAGAGGAAGATGGGGCAGCTCTAGTTACCAGAAAATGCTAATTTGAAGGAAAATTTGATTTTCTACCAAGCAAATACACGACCGTGCAAACAGCCAATTTTCAGAAGCTGATTTTCCATGCTACAGATTACTTAGATATTTATTCAGTGCCCACCAAAGGTCAGGCACTATTCTGGGCACTGGGACTGTCACAGTTAACAAAATAGACCACATGCATGCTCTCTGGGCTCATATTCTACTAAGGGCAGAGAGTCAGTAAATACATGCATAAGATACATCATTGTATCAGATGGTGAAGAATGTTCCCCAAAATAAAGTAGGGTAAGGGGACAGGAACCCTGGAGGAATGTTGTTTACAGAGCCATAGTTATGTAGATCTCTTCAGTCTGGAAAGATCCCTGTGATAATGGGACATTTGAACAGAGACCTTAACAAAGTAAGGAAGCAAGCCTGCAGATATGAGGGGCGGGTTGCAGGTTGTGGGGAGAGAAATGTGCTTCTGGCATGAGAACAGCAGGTGGAAAGGCCCTGAAGAGGAAATGCGCTCGGTGTATTAAACAGTCAGTAAGGAGGCCGACGTGGCTGGAGCAGAGGAACATGGAGGAGTAGGGAAAATCGTAAGATGAAGAAGAGAGTTGGAGGCCGGATAATGAAGCAGCTTGGAGGCCAGGGTTGAGACACTGGGTTTTACTCTGAAAGAGAGGAAAAGCCAGTGCAAGCATTTGACAGAGAGGGCTGACACCACATGACCTTGATTCTGAAAGGATCTCCCTGAATACAGTGTGCAGAATGGACTGATGGGAGGTGGTAGTGGAAGGAAGAGACTGGCATTGGGAAGGTTGTGGTGGAGGTGGTGACAAGAGATCAGATTCTGGATTTGTTTCTCAAGTAGAGCCAGTAGGATTTGCTGGTGGATTTTTAACTTCTAGATTTAAACTTCAAATGCTGGTTCTGACAAAGAGCTTGGAAGAAATGAAATTTAAACTAGATGAATGGAGAGGGCTGGGGATCTGAAGAACTCAATTACCTTTACCCTATAGAGGAGGATGCTTACCTGGAAACACCTGATCAAGGTACCAAGCGAGTAAGCCATAGACAGCAGCATCAAGGAGCATCATCTGCATGGACAGCAGGAAGCTGAATTCGTCCCCTTCCGTGGGACTGTTCCCGATGTTGCTCCTCTGCAGCCCCAGGCCTTGCTCTTCAAAGCGAACCAGGTACTCAGTGCCAAATCCAAATGCCACCGGAGACAGTAAGCTCTGCAGTGAGGCGGAGAGGGCACAGAAAAAGAGCAGTGCCTTTTATCCAATGCAACAGCACCCAGATGCCCTCGAGGTAGAGGGGAGGGCCAAAAGAGGGTCCCCATTGTCTCTCAGTGTAAGGTCAGCTCAGGAGGGTGAAGGCAGTCTTTCCCTTGACGGCCAGGGGGAGTTCAGAGTGTCTCTCTGCAAACAAGAGAGTCTCTAGCTATACAGTCACAAAAAACATGAAACAATTCTCAGCCCAGCCCTAATCCACAGTTGCTAGACCTATAGCTTCCTAGTGATCTATGTACCCAAGAAGATGGCCTCAAATTCCATCTGCCTACTCAAGGATTACCAAAATAGCCCAACTCTGCCCACAGATGAGTCATAAGGATTTCTTGCCACTTATCCATTGTGATCATTTTAGAAAATTGGGTACTACAAATGGCAGCAATTGATTTCTTATTTAACCTAAGAAATGAAAGGCAGATGCCCTGACACCTCTGGAGCCTAATAAGTGTGAGTCGTGAGAACAAGTCAGACTTTCTGTCTTTTCCCAGTGAGGGCAGGTGGTTGTCCCTTCTTGACTCTACAGCACAGAGACAGGGAGACTCCGGAGGACAAGGGGAACTGCACCCTCCAGGGCCAGAGGCTGATTAGAGGGTGGAAATGGCCCATTTGAAAACAATTAGAGAAAAGACAGTGCTCTTTGTCTGGGTCTGGGAATTGTGAACTAGGAAGTTTCTCAGGCCATCAGAAGTCAGCTTCGGGAGTCCTCTCCTGGCCAGCGAGCCTGACTCTGTGGACAGTCTCATTTCTGCACTTCTTTCTGCAAACATTGGTAGAGCATGTTAAAGATACTTGTGGAAATACTCCAATTCAAGTTTTTTTGAAGCAAAACAAAAACCTTTAATTAATGGAAACATCTCTTTAGACAGATAGTAAAGTGGCAAGCTCCCTCCCTTCTGATTCTTCTCAAAGAGTAGGAAAGGAAAACTAGTGAAATGGGCTGCTGGCTCTCTCTTGTGAGTAAATAAAGGGACCCATGAGTTGAACTGGTTTTTTAATGACTTTCCAGGGCAGATGAATCAAGCAGGCGTGGTGAGGAGTCACTGTTGCATCGCTCGGGGTGAGGACTGCTCCCACTTTTGCCCCTGTACATTTTAGCCTCACGTGAACTTTTTAACCTTAGGTCAAAGGCAAAGTGGACCCCCTCAGAGGGCAGGCTGGGCCTCCAGGACTGCTACGGACCCTTCCAAGGAAACGTGTTGTAGGACAGGGGCCAGCCCAAGGGCCTCACCACAGCCTTCTTCAGCTCAGCGGTCATGCGGTCCTGCCAGGCGAAGCACAGGATGTGTGGCAGGTAGAGGGTGAAATAGATGACACCACTACAGGCTGCTGCCAGACTGGCCTTGGAGAAGAAGGTGCTGAGCAGAAAGCACAGCATGATGGTGGCAGTGGAGAAAGCCAACAAGAACAGGAAGAGGATGAATGGGTCGCTGTAATGTAGGATTCTTCCATGCTGAAACCAAGAGGCCATGCGTCAGTAACTCCTGCCCTTGGCCGGACGCCTTCTCATTCTGCCCTAAAGGGCTCTCTCCCACCAGCCTGCAGTTAGTGTCTAAATTTCTACGCACACTCCATGTGCTGAGTTCCTTTAATCCTAGGAATGCCATTTTCCCTGGGAGGAGTAGCACATTAGACTCCTAACAGTCATCAGTAATGTTAAAAAAATTAATTGGGAGACCATTAGGTTGAAACGGCCCCAGCATTCTGTGTTCCTACATCAGCAAACCAAAACCCAACTTAGAGAAACTTAACTAATCACAAACTGCCCACTAACCTGTAATCAGGGACTTTCCACTTGAACCAATCAAATATTTGCTTTGTTTTTCTTTGTCTTGCTTCCCTACCCCTCAGTGGGGCCCTGAACCACTTGTGATCTGGAGCCTCCTGTGAATCACTGTTTGCTGGAATCAACTCT
Task1_train_1274
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?
Pathogenic; Age related macular degeneration 2
CTTCATTTTAAAGCTGTGATTGTAAGTACAGGATTTTGGCAAAAGTGTGGGTAGCCTGGGCACCACATTTCCAGCTGGCATCTGAAGACGGGGAAGCCTTGTGGGACTGAACCCGTGGAGTCTGTGTGAATTCTGGATAGTGTCAGAATTCAATTGAATTCTTGGACAACCCATTAATATAGGAGAATTGGTTGGTGCCAAAACAACAACAACAAAAAACCAAAACACACATTTGGTGTCAGAAGTGCTGTCAAGAAAAAAGATACCAGAGTGCTAACCCCAGGTACCTCATAATGTGGCCTTGTTTAGGAACAGGGTCATTGCAGATGTGATTAGTTGAGATGAGGTCACATGGGAGCAAGGTAGGCACCTAATCCAATCCAGTTGGTATCCTTATAAGATGGCCATGTAAGACAGGCAGAATGCCATGTGCAGACGAAGGATCAGCAGGAAGCATCTACAAGTCAAGGAGTGCCCAAGCACCTACAGGTTTCAGAGGGAGCATGGCCCTGCCAACACCTTGATTTTGGACTTCCAGCCTTCAGAGCTGTGAGATATAAATGGCTGTTGTCTAAGCTGCCCAGTTAGTGGTATTTTGTTATGGCAGCCCTAGTAAATGAATGCACGCTTGCCACTAGGATGCAAACCCAGGCCTCCTGACCCAGTCTAGAAGCCTTCCTCCTATTCAGGGTGGCTGCCTACCTATTTCTGCCAACAAAGGCTGCCCTGAGATGATCTGAGAGCTGTGAGTTTGTCCCTCCCCATGGACTGGACCAGCCTCACCATCCCCTGCCTGCTTTTGGCTACAGCATCAAGAGCCAGGCATGGCTGCCACAGCACAAGGCTATTGGCTGACTTGGAGACCACTCAGAGGAAGATGGGGCAGCTCTAGTTACCAGAAAATGCTAATTTGAAGGAAAATTTGATTTTCTACCAAGCAAATACACGACCGTGCAAACAGCCAATTTTCAGAAGCTGATTTTCCATGCTACAGATTACTTAGATATTTATTCAGTGCCCACCAAAGGTCAGGCACTATTCTGGGCACTGGGACTGTCACAGTTAACAAAATAGACCACATGCATGCTCTCTGGGCTCATATTCTACTAAGGGCAGAGAGTCAGTAAATACATGCATAAGATACATCATTGTATCAGATGGTGAAGAATGTTCCCCAAAATAAAGTAGGGTAAGGGGACAGGAACCCTGGAGGAATGTTGTTTACAGAGCCATAGTTATGTAGATCTCTTCAGTCTGGAAAGATCCCTGTGATAATGGGACATTTGAACAGAGACCTTAACAAAGTAAGGAAGCAAGCCTGCAGATATGAGGGGCGGGTTGCAGGTTGTGGGGAGAGAAATGTGCTTCTGGCATGAGAACAGCAGGTGGAAAGGCCCTGAAGAGGAAATGCGCTCGGTGTATTAAACAGTCAGTAAGGAGGCCGACGTGGCTGGAGCAGAGGAACATGGAGGAGTAGGGAAAATCGTAAGATGAAGAAGAGAGTTGGAGGCCGGATAATGAAGCAGCTTGGAGGCCAGGGTTGAGACACTGGGTTTTACTCTGAAAGAGAGGAAAAGCCAGTGCAAGCATTTGACAGAGAGGGCTGACACCACATGACCTTGATTCTGAAAGGATCTCCCTGAATACAGTGTGCAGAATGGACTGATGGGAGGTGGTAGTGGAAGGAAGAGACTGGCATTGGGAAGGTTGTGGTGGAGGTGGTGACAAGAGATCAGATTCTGGATTTGTTTCTCAAGTAGAGCCAGTAGGATTTGCTGGTGGATTTTTAACTTCTAGATTTAAACTTCAAATGCTGGTTCTGACAAAGAGCTTGGAAGAAATGAAATTTAAACTAGATGAATGGAGAGGGCTGGGGATCTGAAGAACTCAATTACCTTTACCCTATAGAGGAGGATGCTTACCTGGAAACACCTGATCAAGGTACCAAGCGAGTAAGCCATAGACAGCAGCATCAAGGAGCATCATCTGCATGGACAGCAGGAAGCTGAATTCGTCCCCTTCCGTGGGACTGTTCCCGATGTTGCTCCACTGCAGCCCCAGGCCTTGCTCTTCAAAGCGAACCAGGTACTCAGTGCCAAATCCAAATGCCACCGGAGACAGTAAGCTCTGCAGTGAGGCGGAGAGGGCACAGAAAAAGAGCAGTGCCTTTTATCCAATGCAACAGCACCCAGATGCCCTCGAGGTAGAGGGGAGGGCCAAAAGAGGGTCCCCATTGTCTCTCAGTGTAAGGTCAGCTCAGGAGGGTGAAGGCAGTCTTTCCCTTGACGGCCAGGGGGAGTTCAGAGTGTCTCTCTGCAAACAAGAGAGTCTCTAGCTATACAGTCACAAAAAACATGAAACAATTCTCAGCCCAGCCCTAATCCACAGTTGCTAGACCTATAGCTTCCTAGTGATCTATGTACCCAAGAAGATGGCCTCAAATTCCATCTGCCTACTCAAGGATTACCAAAATAGCCCAACTCTGCCCACAGATGAGTCATAAGGATTTCTTGCCACTTATCCATTGTGATCATTTTAGAAAATTGGGTACTACAAATGGCAGCAATTGATTTCTTATTTAACCTAAGAAATGAAAGGCAGATGCCCTGACACCTCTGGAGCCTAATAAGTGTGAGTCGTGAGAACAAGTCAGACTTTCTGTCTTTTCCCAGTGAGGGCAGGTGGTTGTCCCTTCTTGACTCTACAGCACAGAGACAGGGAGACTCCGGAGGACAAGGGGAACTGCACCCTCCAGGGCCAGAGGCTGATTAGAGGGTGGAAATGGCCCATTTGAAAACAATTAGAGAAAAGACAGTGCTCTTTGTCTGGGTCTGGGAATTGTGAACTAGGAAGTTTCTCAGGCCATCAGAAGTCAGCTTCGGGAGTCCTCTCCTGGCCAGCGAGCCTGACTCTGTGGACAGTCTCATTTCTGCACTTCTTTCTGCAAACATTGGTAGAGCATGTTAAAGATACTTGTGGAAATACTCCAATTCAAGTTTTTTTGAAGCAAAACAAAAACCTTTAATTAATGGAAACATCTCTTTAGACAGATAGTAAAGTGGCAAGCTCCCTCCCTTCTGATTCTTCTCAAAGAGTAGGAAAGGAAAACTAGTGAAATGGGCTGCTGGCTCTCTCTTGTGAGTAAATAAAGGGACCCATGAGTTGAACTGGTTTTTTAATGACTTTCCAGGGCAGATGAATCAAGCAGGCGTGGTGAGGAGTCACTGTTGCATCGCTCGGGGTGAGGACTGCTCCCACTTTTGCCCCTGTACATTTTAGCCTCACGTGAACTTTTTAACCTTAGGTCAAAGGCAAAGTGGACCCCCTCAGAGGGCAGGCTGGGCCTCCAGGACTGCTACGGACCCTTCCAAGGAAACGTGTTGTAGGACAGGGGCCAGCCCAAGGGCCTCACCACAGCCTTCTTCAGCTCAGCGGTCATGCGGTCCTGCCAGGCGAAGCACAGGATGTGTGGCAGGTAGAGGGTGAAATAGATGACACCACTACAGGCTGCTGCCAGACTGGCCTTGGAGAAGAAGGTGCTGAGCAGAAAGCACAGCATGATGGTGGCAGTGGAGAAAGCCAACAAGAACAGGAAGAGGATGAATGGGTCGCTGTAATGTAGGATTCTTCCATGCTGAAACCAAGAGGCCATGCGTCAGTAACTCCTGCCCTTGGCCGGACGCCTTCTCATTCTGCCCTAAAGGGCTCTCTCCCACCAGCCTGCAGTTAGTGTCTAAATTTCTACGCACACTCCATGTGCTGAGTTCCTTTAATCCTAGGAATGCCATTTTCCCTGGGAGGAGTAGCACATTAGACTCCTAACAGTCATCAGTAATGTTAAAAAAATTAATTGGGAGACCATTAGGTTGAAACGGCCCCAGCATTCTGTGTTCCTACATCAGCAAACCAAAACCCAACTTAGAGAAACTTAACTAATCACAAACTGCCCACTAACCTGTAATCAGGGACTTTCCACTTGAACCAATCAAATATTTGCTTTGTTTTTCTTTGTCTTGCTTCCCTACCCCTCAGTGGGGCCCTGAACCACTTGTGATCTGGAGCCTCCTGTGAATCACTGTTTGCTGGAATCAACTCT
CTTCATTTTAAAGCTGTGATTGTAAGTACAGGATTTTGGCAAAAGTGTGGGTAGCCTGGGCACCACATTTCCAGCTGGCATCTGAAGACGGGGAAGCCTTGTGGGACTGAACCCGTGGAGTCTGTGTGAATTCTGGATAGTGTCAGAATTCAATTGAATTCTTGGACAACCCATTAATATAGGAGAATTGGTTGGTGCCAAAACAACAACAACAAAAAACCAAAACACACATTTGGTGTCAGAAGTGCTGTCAAGAAAAAAGATACCAGAGTGCTAACCCCAGGTACCTCATAATGTGGCCTTGTTTAGGAACAGGGTCATTGCAGATGTGATTAGTTGAGATGAGGTCACATGGGAGCAAGGTAGGCACCTAATCCAATCCAGTTGGTATCCTTATAAGATGGCCATGTAAGACAGGCAGAATGCCATGTGCAGACGAAGGATCAGCAGGAAGCATCTACAAGTCAAGGAGTGCCCAAGCACCTACAGGTTTCAGAGGGAGCATGGCCCTGCCAACACCTTGATTTTGGACTTCCAGCCTTCAGAGCTGTGAGATATAAATGGCTGTTGTCTAAGCTGCCCAGTTAGTGGTATTTTGTTATGGCAGCCCTAGTAAATGAATGCACGCTTGCCACTAGGATGCAAACCCAGGCCTCCTGACCCAGTCTAGAAGCCTTCCTCCTATTCAGGGTGGCTGCCTACCTATTTCTGCCAACAAAGGCTGCCCTGAGATGATCTGAGAGCTGTGAGTTTGTCCCTCCCCATGGACTGGACCAGCCTCACCATCCCCTGCCTGCTTTTGGCTACAGCATCAAGAGCCAGGCATGGCTGCCACAGCACAAGGCTATTGGCTGACTTGGAGACCACTCAGAGGAAGATGGGGCAGCTCTAGTTACCAGAAAATGCTAATTTGAAGGAAAATTTGATTTTCTACCAAGCAAATACACGACCGTGCAAACAGCCAATTTTCAGAAGCTGATTTTCCATGCTACAGATTACTTAGATATTTATTCAGTGCCCACCAAAGGTCAGGCACTATTCTGGGCACTGGGACTGTCACAGTTAACAAAATAGACCACATGCATGCTCTCTGGGCTCATATTCTACTAAGGGCAGAGAGTCAGTAAATACATGCATAAGATACATCATTGTATCAGATGGTGAAGAATGTTCCCCAAAATAAAGTAGGGTAAGGGGACAGGAACCCTGGAGGAATGTTGTTTACAGAGCCATAGTTATGTAGATCTCTTCAGTCTGGAAAGATCCCTGTGATAATGGGACATTTGAACAGAGACCTTAACAAAGTAAGGAAGCAAGCCTGCAGATATGAGGGGCGGGTTGCAGGTTGTGGGGAGAGAAATGTGCTTCTGGCATGAGAACAGCAGGTGGAAAGGCCCTGAAGAGGAAATGCGCTCGGTGTATTAAACAGTCAGTAAGGAGGCCGACGTGGCTGGAGCAGAGGAACATGGAGGAGTAGGGAAAATCGTAAGATGAAGAAGAGAGTTGGAGGCCGGATAATGAAGCAGCTTGGAGGCCAGGGTTGAGACACTGGGTTTTACTCTGAAAGAGAGGAAAAGCCAGTGCAAGCATTTGACAGAGAGGGCTGACACCACATGACCTTGATTCTGAAAGGATCTCCCTGAATACAGTGTGCAGAATGGACTGATGGGAGGTGGTAGTGGAAGGAAGAGACTGGCATTGGGAAGGTTGTGGTGGAGGTGGTGACAAGAGATCAGATTCTGGATTTGTTTCTCAAGTAGAGCCAGTAGGATTTGCTGGTGGATTTTTAACTTCTAGATTTAAACTTCAAATGCTGGTTCTGACAAAGAGCTTGGAAGAAATGAAATTTAAACTAGATGAATGGAGAGGGCTGGGGATCTGAAGAACTCAATTACCTTTACCCTATAGAGGAGGATGCTTACCTGGAAACACCTGATCAAGGTACCAAGCGAGTAAGCCATAGACAGCAGCATCAAGGAGCATCATCTGCATGGACAGCAGGAAGCTGAATTCGTCCCCTTCCGTGGGACTGTTCCCGATGTTGCTCCTCTGCAGCCCCAGGCCTTGCTCTTCAAAGCGAACCAGGTACTCAGTGCCAAATCCAAATGCCACCGGAGACAGTAAGCTCTGCAGTGAGGCGGAGAGGGCACAGAAAAAGAGCAGTGCCTTTTATCCAATGCAACAGCACCCAGATGCCCTCGAGGTAGAGGGGAGGGCCAAAAGAGGGTCCCCATTGTCTCTCAGTGTAAGGTCAGCTCAGGAGGGTGAAGGCAGTCTTTCCCTTGACGGCCAGGGGGAGTTCAGAGTGTCTCTCTGCAAACAAGAGAGTCTCTAGCTATACAGTCACAAAAAACATGAAACAATTCTCAGCCCAGCCCTAATCCACAGTTGCTAGACCTATAGCTTCCTAGTGATCTATGTACCCAAGAAGATGGCCTCAAATTCCATCTGCCTACTCAAGGATTACCAAAATAGCCCAACTCTGCCCACAGATGAGTCATAAGGATTTCTTGCCACTTATCCATTGTGATCATTTTAGAAAATTGGGTACTACAAATGGCAGCAATTGATTTCTTATTTAACCTAAGAAATGAAAGGCAGATGCCCTGACACCTCTGGAGCCTAATAAGTGTGAGTCGTGAGAACAAGTCAGACTTTCTGTCTTTTCCCAGTGAGGGCAGGTGGTTGTCCCTTCTTGACTCTACAGCACAGAGACAGGGAGACTCCGGAGGACAAGGGGAACTGCACCCTCCAGGGCCAGAGGCTGATTAGAGGGTGGAAATGGCCCATTTGAAAACAATTAGAGAAAAGACAGTGCTCTTTGTCTGGGTCTGGGAATTGTGAACTAGGAAGTTTCTCAGGCCATCAGAAGTCAGCTTCGGGAGTCCTCTCCTGGCCAGCGAGCCTGACTCTGTGGACAGTCTCATTTCTGCACTTCTTTCTGCAAACATTGGTAGAGCATGTTAAAGATACTTGTGGAAATACTCCAATTCAAGTTTTTTTGAAGCAAAACAAAAACCTTTAATTAATGGAAACATCTCTTTAGACAGATAGTAAAGTGGCAAGCTCCCTCCCTTCTGATTCTTCTCAAAGAGTAGGAAAGGAAAACTAGTGAAATGGGCTGCTGGCTCTCTCTTGTGAGTAAATAAAGGGACCCATGAGTTGAACTGGTTTTTTAATGACTTTCCAGGGCAGATGAATCAAGCAGGCGTGGTGAGGAGTCACTGTTGCATCGCTCGGGGTGAGGACTGCTCCCACTTTTGCCCCTGTACATTTTAGCCTCACGTGAACTTTTTAACCTTAGGTCAAAGGCAAAGTGGACCCCCTCAGAGGGCAGGCTGGGCCTCCAGGACTGCTACGGACCCTTCCAAGGAAACGTGTTGTAGGACAGGGGCCAGCCCAAGGGCCTCACCACAGCCTTCTTCAGCTCAGCGGTCATGCGGTCCTGCCAGGCGAAGCACAGGATGTGTGGCAGGTAGAGGGTGAAATAGATGACACCACTACAGGCTGCTGCCAGACTGGCCTTGGAGAAGAAGGTGCTGAGCAGAAAGCACAGCATGATGGTGGCAGTGGAGAAAGCCAACAAGAACAGGAAGAGGATGAATGGGTCGCTGTAATGTAGGATTCTTCCATGCTGAAACCAAGAGGCCATGCGTCAGTAACTCCTGCCCTTGGCCGGACGCCTTCTCATTCTGCCCTAAAGGGCTCTCTCCCACCAGCCTGCAGTTAGTGTCTAAATTTCTACGCACACTCCATGTGCTGAGTTCCTTTAATCCTAGGAATGCCATTTTCCCTGGGAGGAGTAGCACATTAGACTCCTAACAGTCATCAGTAATGTTAAAAAAATTAATTGGGAGACCATTAGGTTGAAACGGCCCCAGCATTCTGTGTTCCTACATCAGCAAACCAAAACCCAACTTAGAGAAACTTAACTAATCACAAACTGCCCACTAACCTGTAATCAGGGACTTTCCACTTGAACCAATCAAATATTTGCTTTGTTTTTCTTTGTCTTGCTTCCCTACCCCTCAGTGGGGCCCTGAACCACTTGTGATCTGGAGCCTCCTGTGAATCACTGTTTGCTGGAATCAACTCT
Task1_train_1275
A mutation in ABCA4 (ATP binding cassette subfamily A member 4), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; Cone-rod dystrophy 3
CTTCATTTTAAAGCTGTGATTGTAAGTACAGGATTTTGGCAAAAGTGTGGGTAGCCTGGGCACCACATTTCCAGCTGGCATCTGAAGACGGGGAAGCCTTGTGGGACTGAACCCGTGGAGTCTGTGTGAATTCTGGATAGTGTCAGAATTCAATTGAATTCTTGGACAACCCATTAATATAGGAGAATTGGTTGGTGCCAAAACAACAACAACAAAAAACCAAAACACACATTTGGTGTCAGAAGTGCTGTCAAGAAAAAAGATACCAGAGTGCTAACCCCAGGTACCTCATAATGTGGCCTTGTTTAGGAACAGGGTCATTGCAGATGTGATTAGTTGAGATGAGGTCACATGGGAGCAAGGTAGGCACCTAATCCAATCCAGTTGGTATCCTTATAAGATGGCCATGTAAGACAGGCAGAATGCCATGTGCAGACGAAGGATCAGCAGGAAGCATCTACAAGTCAAGGAGTGCCCAAGCACCTACAGGTTTCAGAGGGAGCATGGCCCTGCCAACACCTTGATTTTGGACTTCCAGCCTTCAGAGCTGTGAGATATAAATGGCTGTTGTCTAAGCTGCCCAGTTAGTGGTATTTTGTTATGGCAGCCCTAGTAAATGAATGCACGCTTGCCACTAGGATGCAAACCCAGGCCTCCTGACCCAGTCTAGAAGCCTTCCTCCTATTCAGGGTGGCTGCCTACCTATTTCTGCCAACAAAGGCTGCCCTGAGATGATCTGAGAGCTGTGAGTTTGTCCCTCCCCATGGACTGGACCAGCCTCACCATCCCCTGCCTGCTTTTGGCTACAGCATCAAGAGCCAGGCATGGCTGCCACAGCACAAGGCTATTGGCTGACTTGGAGACCACTCAGAGGAAGATGGGGCAGCTCTAGTTACCAGAAAATGCTAATTTGAAGGAAAATTTGATTTTCTACCAAGCAAATACACGACCGTGCAAACAGCCAATTTTCAGAAGCTGATTTTCCATGCTACAGATTACTTAGATATTTATTCAGTGCCCACCAAAGGTCAGGCACTATTCTGGGCACTGGGACTGTCACAGTTAACAAAATAGACCACATGCATGCTCTCTGGGCTCATATTCTACTAAGGGCAGAGAGTCAGTAAATACATGCATAAGATACATCATTGTATCAGATGGTGAAGAATGTTCCCCAAAATAAAGTAGGGTAAGGGGACAGGAACCCTGGAGGAATGTTGTTTACAGAGCCATAGTTATGTAGATCTCTTCAGTCTGGAAAGATCCCTGTGATAATGGGACATTTGAACAGAGACCTTAACAAAGTAAGGAAGCAAGCCTGCAGATATGAGGGGCGGGTTGCAGGTTGTGGGGAGAGAAATGTGCTTCTGGCATGAGAACAGCAGGTGGAAAGGCCCTGAAGAGGAAATGCGCTCGGTGTATTAAACAGTCAGTAAGGAGGCCGACGTGGCTGGAGCAGAGGAACATGGAGGAGTAGGGAAAATCGTAAGATGAAGAAGAGAGTTGGAGGCCGGATAATGAAGCAGCTTGGAGGCCAGGGTTGAGACACTGGGTTTTACTCTGAAAGAGAGGAAAAGCCAGTGCAAGCATTTGACAGAGAGGGCTGACACCACATGACCTTGATTCTGAAAGGATCTCCCTGAATACAGTGTGCAGAATGGACTGATGGGAGGTGGTAGTGGAAGGAAGAGACTGGCATTGGGAAGGTTGTGGTGGAGGTGGTGACAAGAGATCAGATTCTGGATTTGTTTCTCAAGTAGAGCCAGTAGGATTTGCTGGTGGATTTTTAACTTCTAGATTTAAACTTCAAATGCTGGTTCTGACAAAGAGCTTGGAAGAAATGAAATTTAAACTAGATGAATGGAGAGGGCTGGGGATCTGAAGAACTCAATTACCTTTACCCTATAGAGGAGGATGCTTACCTGGAAACACCTGATCAAGGTACCAAGCGAGTAAGCCATAGACAGCAGCATCAAGGAGCATCATCTGCATGGACAGCAGGAAGCTGAATTCGTCCCCTTCCGTGGGACTGTTCCCGATGTTGCTCCACTGCAGCCCCAGGCCTTGCTCTTCAAAGCGAACCAGGTACTCAGTGCCAAATCCAAATGCCACCGGAGACAGTAAGCTCTGCAGTGAGGCGGAGAGGGCACAGAAAAAGAGCAGTGCCTTTTATCCAATGCAACAGCACCCAGATGCCCTCGAGGTAGAGGGGAGGGCCAAAAGAGGGTCCCCATTGTCTCTCAGTGTAAGGTCAGCTCAGGAGGGTGAAGGCAGTCTTTCCCTTGACGGCCAGGGGGAGTTCAGAGTGTCTCTCTGCAAACAAGAGAGTCTCTAGCTATACAGTCACAAAAAACATGAAACAATTCTCAGCCCAGCCCTAATCCACAGTTGCTAGACCTATAGCTTCCTAGTGATCTATGTACCCAAGAAGATGGCCTCAAATTCCATCTGCCTACTCAAGGATTACCAAAATAGCCCAACTCTGCCCACAGATGAGTCATAAGGATTTCTTGCCACTTATCCATTGTGATCATTTTAGAAAATTGGGTACTACAAATGGCAGCAATTGATTTCTTATTTAACCTAAGAAATGAAAGGCAGATGCCCTGACACCTCTGGAGCCTAATAAGTGTGAGTCGTGAGAACAAGTCAGACTTTCTGTCTTTTCCCAGTGAGGGCAGGTGGTTGTCCCTTCTTGACTCTACAGCACAGAGACAGGGAGACTCCGGAGGACAAGGGGAACTGCACCCTCCAGGGCCAGAGGCTGATTAGAGGGTGGAAATGGCCCATTTGAAAACAATTAGAGAAAAGACAGTGCTCTTTGTCTGGGTCTGGGAATTGTGAACTAGGAAGTTTCTCAGGCCATCAGAAGTCAGCTTCGGGAGTCCTCTCCTGGCCAGCGAGCCTGACTCTGTGGACAGTCTCATTTCTGCACTTCTTTCTGCAAACATTGGTAGAGCATGTTAAAGATACTTGTGGAAATACTCCAATTCAAGTTTTTTTGAAGCAAAACAAAAACCTTTAATTAATGGAAACATCTCTTTAGACAGATAGTAAAGTGGCAAGCTCCCTCCCTTCTGATTCTTCTCAAAGAGTAGGAAAGGAAAACTAGTGAAATGGGCTGCTGGCTCTCTCTTGTGAGTAAATAAAGGGACCCATGAGTTGAACTGGTTTTTTAATGACTTTCCAGGGCAGATGAATCAAGCAGGCGTGGTGAGGAGTCACTGTTGCATCGCTCGGGGTGAGGACTGCTCCCACTTTTGCCCCTGTACATTTTAGCCTCACGTGAACTTTTTAACCTTAGGTCAAAGGCAAAGTGGACCCCCTCAGAGGGCAGGCTGGGCCTCCAGGACTGCTACGGACCCTTCCAAGGAAACGTGTTGTAGGACAGGGGCCAGCCCAAGGGCCTCACCACAGCCTTCTTCAGCTCAGCGGTCATGCGGTCCTGCCAGGCGAAGCACAGGATGTGTGGCAGGTAGAGGGTGAAATAGATGACACCACTACAGGCTGCTGCCAGACTGGCCTTGGAGAAGAAGGTGCTGAGCAGAAAGCACAGCATGATGGTGGCAGTGGAGAAAGCCAACAAGAACAGGAAGAGGATGAATGGGTCGCTGTAATGTAGGATTCTTCCATGCTGAAACCAAGAGGCCATGCGTCAGTAACTCCTGCCCTTGGCCGGACGCCTTCTCATTCTGCCCTAAAGGGCTCTCTCCCACCAGCCTGCAGTTAGTGTCTAAATTTCTACGCACACTCCATGTGCTGAGTTCCTTTAATCCTAGGAATGCCATTTTCCCTGGGAGGAGTAGCACATTAGACTCCTAACAGTCATCAGTAATGTTAAAAAAATTAATTGGGAGACCATTAGGTTGAAACGGCCCCAGCATTCTGTGTTCCTACATCAGCAAACCAAAACCCAACTTAGAGAAACTTAACTAATCACAAACTGCCCACTAACCTGTAATCAGGGACTTTCCACTTGAACCAATCAAATATTTGCTTTGTTTTTCTTTGTCTTGCTTCCCTACCCCTCAGTGGGGCCCTGAACCACTTGTGATCTGGAGCCTCCTGTGAATCACTGTTTGCTGGAATCAACTCT
CTTCATTTTAAAGCTGTGATTGTAAGTACAGGATTTTGGCAAAAGTGTGGGTAGCCTGGGCACCACATTTCCAGCTGGCATCTGAAGACGGGGAAGCCTTGTGGGACTGAACCCGTGGAGTCTGTGTGAATTCTGGATAGTGTCAGAATTCAATTGAATTCTTGGACAACCCATTAATATAGGAGAATTGGTTGGTGCCAAAACAACAACAACAAAAAACCAAAACACACATTTGGTGTCAGAAGTGCTGTCAAGAAAAAAGATACCAGAGTGCTAACCCCAGGTACCTCATAATGTGGCCTTGTTTAGGAACAGGGTCATTGCAGATGTGATTAGTTGAGATGAGGTCACATGGGAGCAAGGTAGGCACCTAATCCAATCCAGTTGGTATCCTTATAAGATGGCCATGTAAGACAGGCAGAATGCCATGTGCAGACGAAGGATCAGCAGGAAGCATCTACAAGTCAAGGAGTGCCCAAGCACCTACAGGTTTCAGAGGGAGCATGGCCCTGCCAACACCTTGATTTTGGACTTCCAGCCTTCAGAGCTGTGAGATATAAATGGCTGTTGTCTAAGCTGCCCAGTTAGTGGTATTTTGTTATGGCAGCCCTAGTAAATGAATGCACGCTTGCCACTAGGATGCAAACCCAGGCCTCCTGACCCAGTCTAGAAGCCTTCCTCCTATTCAGGGTGGCTGCCTACCTATTTCTGCCAACAAAGGCTGCCCTGAGATGATCTGAGAGCTGTGAGTTTGTCCCTCCCCATGGACTGGACCAGCCTCACCATCCCCTGCCTGCTTTTGGCTACAGCATCAAGAGCCAGGCATGGCTGCCACAGCACAAGGCTATTGGCTGACTTGGAGACCACTCAGAGGAAGATGGGGCAGCTCTAGTTACCAGAAAATGCTAATTTGAAGGAAAATTTGATTTTCTACCAAGCAAATACACGACCGTGCAAACAGCCAATTTTCAGAAGCTGATTTTCCATGCTACAGATTACTTAGATATTTATTCAGTGCCCACCAAAGGTCAGGCACTATTCTGGGCACTGGGACTGTCACAGTTAACAAAATAGACCACATGCATGCTCTCTGGGCTCATATTCTACTAAGGGCAGAGAGTCAGTAAATACATGCATAAGATACATCATTGTATCAGATGGTGAAGAATGTTCCCCAAAATAAAGTAGGGTAAGGGGACAGGAACCCTGGAGGAATGTTGTTTACAGAGCCATAGTTATGTAGATCTCTTCAGTCTGGAAAGATCCCTGTGATAATGGGACATTTGAACAGAGACCTTAACAAAGTAAGGAAGCAAGCCTGCAGATATGAGGGGCGGGTTGCAGGTTGTGGGGAGAGAAATGTGCTTCTGGCATGAGAACAGCAGGTGGAAAGGCCCTGAAGAGGAAATGCGCTCGGTGTATTAAACAGTCAGTAAGGAGGCCGACGTGGCTGGAGCAGAGGAACATGGAGGAGTAGGGAAAATCGTAAGATGAAGAAGAGAGTTGGAGGCCGGATAATGAAGCAGCTTGGAGGCCAGGGTTGAGACACTGGGTTTTACTCTGAAAGAGAGGAAAAGCCAGTGCAAGCATTTGACAGAGAGGGCTGACACCACATGACCTTGATTCTGAAAGGATCTCCCTGAATACAGTGTGCAGAATGGACTGATGGGAGGTGGTAGTGGAAGGAAGAGACTGGCATTGGGAAGGTTGTGGTGGAGGTGGTGACAAGAGATCAGATTCTGGATTTGTTTCTCAAGTAGAGCCAGTAGGATTTGCTGGTGGATTTTTAACTTCTAGATTTAAACTTCAAATGCTGGTTCTGACAAAGAGCTTGGAAGAAATGAAATTTAAACTAGATGAATGGAGAGGGCTGGGGATCTGAAGAACTCAATTACCTTTACCCTATAGAGGAGGATGCTTACCTGGAAACACCTGATCAAGGTACCAAGCGAGTAAGCCATAGACAGCAGCATCAAGGAGCATCATCTGCATGGACAGCAGGAAGCTGAATTCGTCCCCTTCCGTGGGACTGTTCCCGATGTTGCTCCTCTGCAGCCCCAGGCCTTGCTCTTCAAAGCGAACCAGGTACTCAGTGCCAAATCCAAATGCCACCGGAGACAGTAAGCTCTGCAGTGAGGCGGAGAGGGCACAGAAAAAGAGCAGTGCCTTTTATCCAATGCAACAGCACCCAGATGCCCTCGAGGTAGAGGGGAGGGCCAAAAGAGGGTCCCCATTGTCTCTCAGTGTAAGGTCAGCTCAGGAGGGTGAAGGCAGTCTTTCCCTTGACGGCCAGGGGGAGTTCAGAGTGTCTCTCTGCAAACAAGAGAGTCTCTAGCTATACAGTCACAAAAAACATGAAACAATTCTCAGCCCAGCCCTAATCCACAGTTGCTAGACCTATAGCTTCCTAGTGATCTATGTACCCAAGAAGATGGCCTCAAATTCCATCTGCCTACTCAAGGATTACCAAAATAGCCCAACTCTGCCCACAGATGAGTCATAAGGATTTCTTGCCACTTATCCATTGTGATCATTTTAGAAAATTGGGTACTACAAATGGCAGCAATTGATTTCTTATTTAACCTAAGAAATGAAAGGCAGATGCCCTGACACCTCTGGAGCCTAATAAGTGTGAGTCGTGAGAACAAGTCAGACTTTCTGTCTTTTCCCAGTGAGGGCAGGTGGTTGTCCCTTCTTGACTCTACAGCACAGAGACAGGGAGACTCCGGAGGACAAGGGGAACTGCACCCTCCAGGGCCAGAGGCTGATTAGAGGGTGGAAATGGCCCATTTGAAAACAATTAGAGAAAAGACAGTGCTCTTTGTCTGGGTCTGGGAATTGTGAACTAGGAAGTTTCTCAGGCCATCAGAAGTCAGCTTCGGGAGTCCTCTCCTGGCCAGCGAGCCTGACTCTGTGGACAGTCTCATTTCTGCACTTCTTTCTGCAAACATTGGTAGAGCATGTTAAAGATACTTGTGGAAATACTCCAATTCAAGTTTTTTTGAAGCAAAACAAAAACCTTTAATTAATGGAAACATCTCTTTAGACAGATAGTAAAGTGGCAAGCTCCCTCCCTTCTGATTCTTCTCAAAGAGTAGGAAAGGAAAACTAGTGAAATGGGCTGCTGGCTCTCTCTTGTGAGTAAATAAAGGGACCCATGAGTTGAACTGGTTTTTTAATGACTTTCCAGGGCAGATGAATCAAGCAGGCGTGGTGAGGAGTCACTGTTGCATCGCTCGGGGTGAGGACTGCTCCCACTTTTGCCCCTGTACATTTTAGCCTCACGTGAACTTTTTAACCTTAGGTCAAAGGCAAAGTGGACCCCCTCAGAGGGCAGGCTGGGCCTCCAGGACTGCTACGGACCCTTCCAAGGAAACGTGTTGTAGGACAGGGGCCAGCCCAAGGGCCTCACCACAGCCTTCTTCAGCTCAGCGGTCATGCGGTCCTGCCAGGCGAAGCACAGGATGTGTGGCAGGTAGAGGGTGAAATAGATGACACCACTACAGGCTGCTGCCAGACTGGCCTTGGAGAAGAAGGTGCTGAGCAGAAAGCACAGCATGATGGTGGCAGTGGAGAAAGCCAACAAGAACAGGAAGAGGATGAATGGGTCGCTGTAATGTAGGATTCTTCCATGCTGAAACCAAGAGGCCATGCGTCAGTAACTCCTGCCCTTGGCCGGACGCCTTCTCATTCTGCCCTAAAGGGCTCTCTCCCACCAGCCTGCAGTTAGTGTCTAAATTTCTACGCACACTCCATGTGCTGAGTTCCTTTAATCCTAGGAATGCCATTTTCCCTGGGAGGAGTAGCACATTAGACTCCTAACAGTCATCAGTAATGTTAAAAAAATTAATTGGGAGACCATTAGGTTGAAACGGCCCCAGCATTCTGTGTTCCTACATCAGCAAACCAAAACCCAACTTAGAGAAACTTAACTAATCACAAACTGCCCACTAACCTGTAATCAGGGACTTTCCACTTGAACCAATCAAATATTTGCTTTGTTTTTCTTTGTCTTGCTTCCCTACCCCTCAGTGGGGCCCTGAACCACTTGTGATCTGGAGCCTCCTGTGAATCACTGTTTGCTGGAATCAACTCT
Task1_train_1276
Gene ABCA4 (ATP binding cassette subfamily A member 4), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; Severe early-childhood-onset retinal dystrophy
CTTCATTTTAAAGCTGTGATTGTAAGTACAGGATTTTGGCAAAAGTGTGGGTAGCCTGGGCACCACATTTCCAGCTGGCATCTGAAGACGGGGAAGCCTTGTGGGACTGAACCCGTGGAGTCTGTGTGAATTCTGGATAGTGTCAGAATTCAATTGAATTCTTGGACAACCCATTAATATAGGAGAATTGGTTGGTGCCAAAACAACAACAACAAAAAACCAAAACACACATTTGGTGTCAGAAGTGCTGTCAAGAAAAAAGATACCAGAGTGCTAACCCCAGGTACCTCATAATGTGGCCTTGTTTAGGAACAGGGTCATTGCAGATGTGATTAGTTGAGATGAGGTCACATGGGAGCAAGGTAGGCACCTAATCCAATCCAGTTGGTATCCTTATAAGATGGCCATGTAAGACAGGCAGAATGCCATGTGCAGACGAAGGATCAGCAGGAAGCATCTACAAGTCAAGGAGTGCCCAAGCACCTACAGGTTTCAGAGGGAGCATGGCCCTGCCAACACCTTGATTTTGGACTTCCAGCCTTCAGAGCTGTGAGATATAAATGGCTGTTGTCTAAGCTGCCCAGTTAGTGGTATTTTGTTATGGCAGCCCTAGTAAATGAATGCACGCTTGCCACTAGGATGCAAACCCAGGCCTCCTGACCCAGTCTAGAAGCCTTCCTCCTATTCAGGGTGGCTGCCTACCTATTTCTGCCAACAAAGGCTGCCCTGAGATGATCTGAGAGCTGTGAGTTTGTCCCTCCCCATGGACTGGACCAGCCTCACCATCCCCTGCCTGCTTTTGGCTACAGCATCAAGAGCCAGGCATGGCTGCCACAGCACAAGGCTATTGGCTGACTTGGAGACCACTCAGAGGAAGATGGGGCAGCTCTAGTTACCAGAAAATGCTAATTTGAAGGAAAATTTGATTTTCTACCAAGCAAATACACGACCGTGCAAACAGCCAATTTTCAGAAGCTGATTTTCCATGCTACAGATTACTTAGATATTTATTCAGTGCCCACCAAAGGTCAGGCACTATTCTGGGCACTGGGACTGTCACAGTTAACAAAATAGACCACATGCATGCTCTCTGGGCTCATATTCTACTAAGGGCAGAGAGTCAGTAAATACATGCATAAGATACATCATTGTATCAGATGGTGAAGAATGTTCCCCAAAATAAAGTAGGGTAAGGGGACAGGAACCCTGGAGGAATGTTGTTTACAGAGCCATAGTTATGTAGATCTCTTCAGTCTGGAAAGATCCCTGTGATAATGGGACATTTGAACAGAGACCTTAACAAAGTAAGGAAGCAAGCCTGCAGATATGAGGGGCGGGTTGCAGGTTGTGGGGAGAGAAATGTGCTTCTGGCATGAGAACAGCAGGTGGAAAGGCCCTGAAGAGGAAATGCGCTCGGTGTATTAAACAGTCAGTAAGGAGGCCGACGTGGCTGGAGCAGAGGAACATGGAGGAGTAGGGAAAATCGTAAGATGAAGAAGAGAGTTGGAGGCCGGATAATGAAGCAGCTTGGAGGCCAGGGTTGAGACACTGGGTTTTACTCTGAAAGAGAGGAAAAGCCAGTGCAAGCATTTGACAGAGAGGGCTGACACCACATGACCTTGATTCTGAAAGGATCTCCCTGAATACAGTGTGCAGAATGGACTGATGGGAGGTGGTAGTGGAAGGAAGAGACTGGCATTGGGAAGGTTGTGGTGGAGGTGGTGACAAGAGATCAGATTCTGGATTTGTTTCTCAAGTAGAGCCAGTAGGATTTGCTGGTGGATTTTTAACTTCTAGATTTAAACTTCAAATGCTGGTTCTGACAAAGAGCTTGGAAGAAATGAAATTTAAACTAGATGAATGGAGAGGGCTGGGGATCTGAAGAACTCAATTACCTTTACCCTATAGAGGAGGATGCTTACCTGGAAACACCTGATCAAGGTACCAAGCGAGTAAGCCATAGACAGCAGCATCAAGGAGCATCATCTGCATGGACAGCAGGAAGCTGAATTCGTCCCCTTCCGTGGGACTGTTCCCGATGTTGCTCCACTGCAGCCCCAGGCCTTGCTCTTCAAAGCGAACCAGGTACTCAGTGCCAAATCCAAATGCCACCGGAGACAGTAAGCTCTGCAGTGAGGCGGAGAGGGCACAGAAAAAGAGCAGTGCCTTTTATCCAATGCAACAGCACCCAGATGCCCTCGAGGTAGAGGGGAGGGCCAAAAGAGGGTCCCCATTGTCTCTCAGTGTAAGGTCAGCTCAGGAGGGTGAAGGCAGTCTTTCCCTTGACGGCCAGGGGGAGTTCAGAGTGTCTCTCTGCAAACAAGAGAGTCTCTAGCTATACAGTCACAAAAAACATGAAACAATTCTCAGCCCAGCCCTAATCCACAGTTGCTAGACCTATAGCTTCCTAGTGATCTATGTACCCAAGAAGATGGCCTCAAATTCCATCTGCCTACTCAAGGATTACCAAAATAGCCCAACTCTGCCCACAGATGAGTCATAAGGATTTCTTGCCACTTATCCATTGTGATCATTTTAGAAAATTGGGTACTACAAATGGCAGCAATTGATTTCTTATTTAACCTAAGAAATGAAAGGCAGATGCCCTGACACCTCTGGAGCCTAATAAGTGTGAGTCGTGAGAACAAGTCAGACTTTCTGTCTTTTCCCAGTGAGGGCAGGTGGTTGTCCCTTCTTGACTCTACAGCACAGAGACAGGGAGACTCCGGAGGACAAGGGGAACTGCACCCTCCAGGGCCAGAGGCTGATTAGAGGGTGGAAATGGCCCATTTGAAAACAATTAGAGAAAAGACAGTGCTCTTTGTCTGGGTCTGGGAATTGTGAACTAGGAAGTTTCTCAGGCCATCAGAAGTCAGCTTCGGGAGTCCTCTCCTGGCCAGCGAGCCTGACTCTGTGGACAGTCTCATTTCTGCACTTCTTTCTGCAAACATTGGTAGAGCATGTTAAAGATACTTGTGGAAATACTCCAATTCAAGTTTTTTTGAAGCAAAACAAAAACCTTTAATTAATGGAAACATCTCTTTAGACAGATAGTAAAGTGGCAAGCTCCCTCCCTTCTGATTCTTCTCAAAGAGTAGGAAAGGAAAACTAGTGAAATGGGCTGCTGGCTCTCTCTTGTGAGTAAATAAAGGGACCCATGAGTTGAACTGGTTTTTTAATGACTTTCCAGGGCAGATGAATCAAGCAGGCGTGGTGAGGAGTCACTGTTGCATCGCTCGGGGTGAGGACTGCTCCCACTTTTGCCCCTGTACATTTTAGCCTCACGTGAACTTTTTAACCTTAGGTCAAAGGCAAAGTGGACCCCCTCAGAGGGCAGGCTGGGCCTCCAGGACTGCTACGGACCCTTCCAAGGAAACGTGTTGTAGGACAGGGGCCAGCCCAAGGGCCTCACCACAGCCTTCTTCAGCTCAGCGGTCATGCGGTCCTGCCAGGCGAAGCACAGGATGTGTGGCAGGTAGAGGGTGAAATAGATGACACCACTACAGGCTGCTGCCAGACTGGCCTTGGAGAAGAAGGTGCTGAGCAGAAAGCACAGCATGATGGTGGCAGTGGAGAAAGCCAACAAGAACAGGAAGAGGATGAATGGGTCGCTGTAATGTAGGATTCTTCCATGCTGAAACCAAGAGGCCATGCGTCAGTAACTCCTGCCCTTGGCCGGACGCCTTCTCATTCTGCCCTAAAGGGCTCTCTCCCACCAGCCTGCAGTTAGTGTCTAAATTTCTACGCACACTCCATGTGCTGAGTTCCTTTAATCCTAGGAATGCCATTTTCCCTGGGAGGAGTAGCACATTAGACTCCTAACAGTCATCAGTAATGTTAAAAAAATTAATTGGGAGACCATTAGGTTGAAACGGCCCCAGCATTCTGTGTTCCTACATCAGCAAACCAAAACCCAACTTAGAGAAACTTAACTAATCACAAACTGCCCACTAACCTGTAATCAGGGACTTTCCACTTGAACCAATCAAATATTTGCTTTGTTTTTCTTTGTCTTGCTTCCCTACCCCTCAGTGGGGCCCTGAACCACTTGTGATCTGGAGCCTCCTGTGAATCACTGTTTGCTGGAATCAACTCT
CTTCATTTTAAAGCTGTGATTGTAAGTACAGGATTTTGGCAAAAGTGTGGGTAGCCTGGGCACCACATTTCCAGCTGGCATCTGAAGACGGGGAAGCCTTGTGGGACTGAACCCGTGGAGTCTGTGTGAATTCTGGATAGTGTCAGAATTCAATTGAATTCTTGGACAACCCATTAATATAGGAGAATTGGTTGGTGCCAAAACAACAACAACAAAAAACCAAAACACACATTTGGTGTCAGAAGTGCTGTCAAGAAAAAAGATACCAGAGTGCTAACCCCAGGTACCTCATAATGTGGCCTTGTTTAGGAACAGGGTCATTGCAGATGTGATTAGTTGAGATGAGGTCACATGGGAGCAAGGTAGGCACCTAATCCAATCCAGTTGGTATCCTTATAAGATGGCCATGTAAGACAGGCAGAATGCCATGTGCAGACGAAGGATCAGCAGGAAGCATCTACAAGTCAAGGAGTGCCCAAGCACCTACAGGTTTCAGAGGGAGCATGGCCCTGCCAACACCTTGATTTTGGACTTCCAGCCTTCAGAGCTGTGAGATATAAATGGCTGTTGTCTAAGCTGCCCAGTTAGTGGTATTTTGTTATGGCAGCCCTAGTAAATGAATGCACGCTTGCCACTAGGATGCAAACCCAGGCCTCCTGACCCAGTCTAGAAGCCTTCCTCCTATTCAGGGTGGCTGCCTACCTATTTCTGCCAACAAAGGCTGCCCTGAGATGATCTGAGAGCTGTGAGTTTGTCCCTCCCCATGGACTGGACCAGCCTCACCATCCCCTGCCTGCTTTTGGCTACAGCATCAAGAGCCAGGCATGGCTGCCACAGCACAAGGCTATTGGCTGACTTGGAGACCACTCAGAGGAAGATGGGGCAGCTCTAGTTACCAGAAAATGCTAATTTGAAGGAAAATTTGATTTTCTACCAAGCAAATACACGACCGTGCAAACAGCCAATTTTCAGAAGCTGATTTTCCATGCTACAGATTACTTAGATATTTATTCAGTGCCCACCAAAGGTCAGGCACTATTCTGGGCACTGGGACTGTCACAGTTAACAAAATAGACCACATGCATGCTCTCTGGGCTCATATTCTACTAAGGGCAGAGAGTCAGTAAATACATGCATAAGATACATCATTGTATCAGATGGTGAAGAATGTTCCCCAAAATAAAGTAGGGTAAGGGGACAGGAACCCTGGAGGAATGTTGTTTACAGAGCCATAGTTATGTAGATCTCTTCAGTCTGGAAAGATCCCTGTGATAATGGGACATTTGAACAGAGACCTTAACAAAGTAAGGAAGCAAGCCTGCAGATATGAGGGGCGGGTTGCAGGTTGTGGGGAGAGAAATGTGCTTCTGGCATGAGAACAGCAGGTGGAAAGGCCCTGAAGAGGAAATGCGCTCGGTGTATTAAACAGTCAGTAAGGAGGCCGACGTGGCTGGAGCAGAGGAACATGGAGGAGTAGGGAAAATCGTAAGATGAAGAAGAGAGTTGGAGGCCGGATAATGAAGCAGCTTGGAGGCCAGGGTTGAGACACTGGGTTTTACTCTGAAAGAGAGGAAAAGCCAGTGCAAGCATTTGACAGAGAGGGCTGACACCACATGACCTTGATTCTGAAAGGATCTCCCTGAATACAGTGTGCAGAATGGACTGATGGGAGGTGGTAGTGGAAGGAAGAGACTGGCATTGGGAAGGTTGTGGTGGAGGTGGTGACAAGAGATCAGATTCTGGATTTGTTTCTCAAGTAGAGCCAGTAGGATTTGCTGGTGGATTTTTAACTTCTAGATTTAAACTTCAAATGCTGGTTCTGACAAAGAGCTTGGAAGAAATGAAATTTAAACTAGATGAATGGAGAGGGCTGGGGATCTGAAGAACTCAATTACCTTTACCCTATAGAGGAGGATGCTTACCTGGAAACACCTGATCAAGGTACCAAGCGAGTAAGCCATAGACAGCAGCATCAAGGAGCATCATCTGCATGGACAGCAGGAAGCTGAATTCGTCCCCTTCCGTGGGACTGTTCCCGATGTTGCTCCTCTGCAGCCCCAGGCCTTGCTCTTCAAAGCGAACCAGGTACTCAGTGCCAAATCCAAATGCCACCGGAGACAGTAAGCTCTGCAGTGAGGCGGAGAGGGCACAGAAAAAGAGCAGTGCCTTTTATCCAATGCAACAGCACCCAGATGCCCTCGAGGTAGAGGGGAGGGCCAAAAGAGGGTCCCCATTGTCTCTCAGTGTAAGGTCAGCTCAGGAGGGTGAAGGCAGTCTTTCCCTTGACGGCCAGGGGGAGTTCAGAGTGTCTCTCTGCAAACAAGAGAGTCTCTAGCTATACAGTCACAAAAAACATGAAACAATTCTCAGCCCAGCCCTAATCCACAGTTGCTAGACCTATAGCTTCCTAGTGATCTATGTACCCAAGAAGATGGCCTCAAATTCCATCTGCCTACTCAAGGATTACCAAAATAGCCCAACTCTGCCCACAGATGAGTCATAAGGATTTCTTGCCACTTATCCATTGTGATCATTTTAGAAAATTGGGTACTACAAATGGCAGCAATTGATTTCTTATTTAACCTAAGAAATGAAAGGCAGATGCCCTGACACCTCTGGAGCCTAATAAGTGTGAGTCGTGAGAACAAGTCAGACTTTCTGTCTTTTCCCAGTGAGGGCAGGTGGTTGTCCCTTCTTGACTCTACAGCACAGAGACAGGGAGACTCCGGAGGACAAGGGGAACTGCACCCTCCAGGGCCAGAGGCTGATTAGAGGGTGGAAATGGCCCATTTGAAAACAATTAGAGAAAAGACAGTGCTCTTTGTCTGGGTCTGGGAATTGTGAACTAGGAAGTTTCTCAGGCCATCAGAAGTCAGCTTCGGGAGTCCTCTCCTGGCCAGCGAGCCTGACTCTGTGGACAGTCTCATTTCTGCACTTCTTTCTGCAAACATTGGTAGAGCATGTTAAAGATACTTGTGGAAATACTCCAATTCAAGTTTTTTTGAAGCAAAACAAAAACCTTTAATTAATGGAAACATCTCTTTAGACAGATAGTAAAGTGGCAAGCTCCCTCCCTTCTGATTCTTCTCAAAGAGTAGGAAAGGAAAACTAGTGAAATGGGCTGCTGGCTCTCTCTTGTGAGTAAATAAAGGGACCCATGAGTTGAACTGGTTTTTTAATGACTTTCCAGGGCAGATGAATCAAGCAGGCGTGGTGAGGAGTCACTGTTGCATCGCTCGGGGTGAGGACTGCTCCCACTTTTGCCCCTGTACATTTTAGCCTCACGTGAACTTTTTAACCTTAGGTCAAAGGCAAAGTGGACCCCCTCAGAGGGCAGGCTGGGCCTCCAGGACTGCTACGGACCCTTCCAAGGAAACGTGTTGTAGGACAGGGGCCAGCCCAAGGGCCTCACCACAGCCTTCTTCAGCTCAGCGGTCATGCGGTCCTGCCAGGCGAAGCACAGGATGTGTGGCAGGTAGAGGGTGAAATAGATGACACCACTACAGGCTGCTGCCAGACTGGCCTTGGAGAAGAAGGTGCTGAGCAGAAAGCACAGCATGATGGTGGCAGTGGAGAAAGCCAACAAGAACAGGAAGAGGATGAATGGGTCGCTGTAATGTAGGATTCTTCCATGCTGAAACCAAGAGGCCATGCGTCAGTAACTCCTGCCCTTGGCCGGACGCCTTCTCATTCTGCCCTAAAGGGCTCTCTCCCACCAGCCTGCAGTTAGTGTCTAAATTTCTACGCACACTCCATGTGCTGAGTTCCTTTAATCCTAGGAATGCCATTTTCCCTGGGAGGAGTAGCACATTAGACTCCTAACAGTCATCAGTAATGTTAAAAAAATTAATTGGGAGACCATTAGGTTGAAACGGCCCCAGCATTCTGTGTTCCTACATCAGCAAACCAAAACCCAACTTAGAGAAACTTAACTAATCACAAACTGCCCACTAACCTGTAATCAGGGACTTTCCACTTGAACCAATCAAATATTTGCTTTGTTTTTCTTTGTCTTGCTTCCCTACCCCTCAGTGGGGCCCTGAACCACTTGTGATCTGGAGCCTCCTGTGAATCACTGTTTGCTGGAATCAACTCT
Task1_train_1277
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; Retinitis pigmentosa 19
CTTCATTTTAAAGCTGTGATTGTAAGTACAGGATTTTGGCAAAAGTGTGGGTAGCCTGGGCACCACATTTCCAGCTGGCATCTGAAGACGGGGAAGCCTTGTGGGACTGAACCCGTGGAGTCTGTGTGAATTCTGGATAGTGTCAGAATTCAATTGAATTCTTGGACAACCCATTAATATAGGAGAATTGGTTGGTGCCAAAACAACAACAACAAAAAACCAAAACACACATTTGGTGTCAGAAGTGCTGTCAAGAAAAAAGATACCAGAGTGCTAACCCCAGGTACCTCATAATGTGGCCTTGTTTAGGAACAGGGTCATTGCAGATGTGATTAGTTGAGATGAGGTCACATGGGAGCAAGGTAGGCACCTAATCCAATCCAGTTGGTATCCTTATAAGATGGCCATGTAAGACAGGCAGAATGCCATGTGCAGACGAAGGATCAGCAGGAAGCATCTACAAGTCAAGGAGTGCCCAAGCACCTACAGGTTTCAGAGGGAGCATGGCCCTGCCAACACCTTGATTTTGGACTTCCAGCCTTCAGAGCTGTGAGATATAAATGGCTGTTGTCTAAGCTGCCCAGTTAGTGGTATTTTGTTATGGCAGCCCTAGTAAATGAATGCACGCTTGCCACTAGGATGCAAACCCAGGCCTCCTGACCCAGTCTAGAAGCCTTCCTCCTATTCAGGGTGGCTGCCTACCTATTTCTGCCAACAAAGGCTGCCCTGAGATGATCTGAGAGCTGTGAGTTTGTCCCTCCCCATGGACTGGACCAGCCTCACCATCCCCTGCCTGCTTTTGGCTACAGCATCAAGAGCCAGGCATGGCTGCCACAGCACAAGGCTATTGGCTGACTTGGAGACCACTCAGAGGAAGATGGGGCAGCTCTAGTTACCAGAAAATGCTAATTTGAAGGAAAATTTGATTTTCTACCAAGCAAATACACGACCGTGCAAACAGCCAATTTTCAGAAGCTGATTTTCCATGCTACAGATTACTTAGATATTTATTCAGTGCCCACCAAAGGTCAGGCACTATTCTGGGCACTGGGACTGTCACAGTTAACAAAATAGACCACATGCATGCTCTCTGGGCTCATATTCTACTAAGGGCAGAGAGTCAGTAAATACATGCATAAGATACATCATTGTATCAGATGGTGAAGAATGTTCCCCAAAATAAAGTAGGGTAAGGGGACAGGAACCCTGGAGGAATGTTGTTTACAGAGCCATAGTTATGTAGATCTCTTCAGTCTGGAAAGATCCCTGTGATAATGGGACATTTGAACAGAGACCTTAACAAAGTAAGGAAGCAAGCCTGCAGATATGAGGGGCGGGTTGCAGGTTGTGGGGAGAGAAATGTGCTTCTGGCATGAGAACAGCAGGTGGAAAGGCCCTGAAGAGGAAATGCGCTCGGTGTATTAAACAGTCAGTAAGGAGGCCGACGTGGCTGGAGCAGAGGAACATGGAGGAGTAGGGAAAATCGTAAGATGAAGAAGAGAGTTGGAGGCCGGATAATGAAGCAGCTTGGAGGCCAGGGTTGAGACACTGGGTTTTACTCTGAAAGAGAGGAAAAGCCAGTGCAAGCATTTGACAGAGAGGGCTGACACCACATGACCTTGATTCTGAAAGGATCTCCCTGAATACAGTGTGCAGAATGGACTGATGGGAGGTGGTAGTGGAAGGAAGAGACTGGCATTGGGAAGGTTGTGGTGGAGGTGGTGACAAGAGATCAGATTCTGGATTTGTTTCTCAAGTAGAGCCAGTAGGATTTGCTGGTGGATTTTTAACTTCTAGATTTAAACTTCAAATGCTGGTTCTGACAAAGAGCTTGGAAGAAATGAAATTTAAACTAGATGAATGGAGAGGGCTGGGGATCTGAAGAACTCAATTACCTTTACCCTATAGAGGAGGATGCTTACCTGGAAACACCTGATCAAGGTACCAAGCGAGTAAGCCATAGACAGCAGCATCAAGGAGCATCATCTGCATGGACAGCAGGAAGCTGAATTCGTCCCCTTCCGTGGGACTGTTCCCGATGTTGCTCCACTGCAGCCCCAGGCCTTGCTCTTCAAAGCGAACCAGGTACTCAGTGCCAAATCCAAATGCCACCGGAGACAGTAAGCTCTGCAGTGAGGCGGAGAGGGCACAGAAAAAGAGCAGTGCCTTTTATCCAATGCAACAGCACCCAGATGCCCTCGAGGTAGAGGGGAGGGCCAAAAGAGGGTCCCCATTGTCTCTCAGTGTAAGGTCAGCTCAGGAGGGTGAAGGCAGTCTTTCCCTTGACGGCCAGGGGGAGTTCAGAGTGTCTCTCTGCAAACAAGAGAGTCTCTAGCTATACAGTCACAAAAAACATGAAACAATTCTCAGCCCAGCCCTAATCCACAGTTGCTAGACCTATAGCTTCCTAGTGATCTATGTACCCAAGAAGATGGCCTCAAATTCCATCTGCCTACTCAAGGATTACCAAAATAGCCCAACTCTGCCCACAGATGAGTCATAAGGATTTCTTGCCACTTATCCATTGTGATCATTTTAGAAAATTGGGTACTACAAATGGCAGCAATTGATTTCTTATTTAACCTAAGAAATGAAAGGCAGATGCCCTGACACCTCTGGAGCCTAATAAGTGTGAGTCGTGAGAACAAGTCAGACTTTCTGTCTTTTCCCAGTGAGGGCAGGTGGTTGTCCCTTCTTGACTCTACAGCACAGAGACAGGGAGACTCCGGAGGACAAGGGGAACTGCACCCTCCAGGGCCAGAGGCTGATTAGAGGGTGGAAATGGCCCATTTGAAAACAATTAGAGAAAAGACAGTGCTCTTTGTCTGGGTCTGGGAATTGTGAACTAGGAAGTTTCTCAGGCCATCAGAAGTCAGCTTCGGGAGTCCTCTCCTGGCCAGCGAGCCTGACTCTGTGGACAGTCTCATTTCTGCACTTCTTTCTGCAAACATTGGTAGAGCATGTTAAAGATACTTGTGGAAATACTCCAATTCAAGTTTTTTTGAAGCAAAACAAAAACCTTTAATTAATGGAAACATCTCTTTAGACAGATAGTAAAGTGGCAAGCTCCCTCCCTTCTGATTCTTCTCAAAGAGTAGGAAAGGAAAACTAGTGAAATGGGCTGCTGGCTCTCTCTTGTGAGTAAATAAAGGGACCCATGAGTTGAACTGGTTTTTTAATGACTTTCCAGGGCAGATGAATCAAGCAGGCGTGGTGAGGAGTCACTGTTGCATCGCTCGGGGTGAGGACTGCTCCCACTTTTGCCCCTGTACATTTTAGCCTCACGTGAACTTTTTAACCTTAGGTCAAAGGCAAAGTGGACCCCCTCAGAGGGCAGGCTGGGCCTCCAGGACTGCTACGGACCCTTCCAAGGAAACGTGTTGTAGGACAGGGGCCAGCCCAAGGGCCTCACCACAGCCTTCTTCAGCTCAGCGGTCATGCGGTCCTGCCAGGCGAAGCACAGGATGTGTGGCAGGTAGAGGGTGAAATAGATGACACCACTACAGGCTGCTGCCAGACTGGCCTTGGAGAAGAAGGTGCTGAGCAGAAAGCACAGCATGATGGTGGCAGTGGAGAAAGCCAACAAGAACAGGAAGAGGATGAATGGGTCGCTGTAATGTAGGATTCTTCCATGCTGAAACCAAGAGGCCATGCGTCAGTAACTCCTGCCCTTGGCCGGACGCCTTCTCATTCTGCCCTAAAGGGCTCTCTCCCACCAGCCTGCAGTTAGTGTCTAAATTTCTACGCACACTCCATGTGCTGAGTTCCTTTAATCCTAGGAATGCCATTTTCCCTGGGAGGAGTAGCACATTAGACTCCTAACAGTCATCAGTAATGTTAAAAAAATTAATTGGGAGACCATTAGGTTGAAACGGCCCCAGCATTCTGTGTTCCTACATCAGCAAACCAAAACCCAACTTAGAGAAACTTAACTAATCACAAACTGCCCACTAACCTGTAATCAGGGACTTTCCACTTGAACCAATCAAATATTTGCTTTGTTTTTCTTTGTCTTGCTTCCCTACCCCTCAGTGGGGCCCTGAACCACTTGTGATCTGGAGCCTCCTGTGAATCACTGTTTGCTGGAATCAACTCT
CTTCATTTTAAAGCTGTGATTGTAAGTACAGGATTTTGGCAAAAGTGTGGGTAGCCTGGGCACCACATTTCCAGCTGGCATCTGAAGACGGGGAAGCCTTGTGGGACTGAACCCGTGGAGTCTGTGTGAATTCTGGATAGTGTCAGAATTCAATTGAATTCTTGGACAACCCATTAATATAGGAGAATTGGTTGGTGCCAAAACAACAACAACAAAAAACCAAAACACACATTTGGTGTCAGAAGTGCTGTCAAGAAAAAAGATACCAGAGTGCTAACCCCAGGTACCTCATAATGTGGCCTTGTTTAGGAACAGGGTCATTGCAGATGTGATTAGTTGAGATGAGGTCACATGGGAGCAAGGTAGGCACCTAATCCAATCCAGTTGGTATCCTTATAAGATGGCCATGTAAGACAGGCAGAATGCCATGTGCAGACGAAGGATCAGCAGGAAGCATCTACAAGTCAAGGAGTGCCCAAGCACCTACAGGTTTCAGAGGGAGCATGGCCCTGCCAACACCTTGATTTTGGACTTCCAGCCTTCAGAGCTGTGAGATATAAATGGCTGTTGTCTAAGCTGCCCAGTTAGTGGTATTTTGTTATGGCAGCCCTAGTAAATGAATGCACGCTTGCCACTAGGATGCAAACCCAGGCCTCCTGACCCAGTCTAGAAGCCTTCCTCCTATTCAGGGTGGCTGCCTACCTATTTCTGCCAACAAAGGCTGCCCTGAGATGATCTGAGAGCTGTGAGTTTGTCCCTCCCCATGGACTGGACCAGCCTCACCATCCCCTGCCTGCTTTTGGCTACAGCATCAAGAGCCAGGCATGGCTGCCACAGCACAAGGCTATTGGCTGACTTGGAGACCACTCAGAGGAAGATGGGGCAGCTCTAGTTACCAGAAAATGCTAATTTGAAGGAAAATTTGATTTTCTACCAAGCAAATACACGACCGTGCAAACAGCCAATTTTCAGAAGCTGATTTTCCATGCTACAGATTACTTAGATATTTATTCAGTGCCCACCAAAGGTCAGGCACTATTCTGGGCACTGGGACTGTCACAGTTAACAAAATAGACCACATGCATGCTCTCTGGGCTCATATTCTACTAAGGGCAGAGAGTCAGTAAATACATGCATAAGATACATCATTGTATCAGATGGTGAAGAATGTTCCCCAAAATAAAGTAGGGTAAGGGGACAGGAACCCTGGAGGAATGTTGTTTACAGAGCCATAGTTATGTAGATCTCTTCAGTCTGGAAAGATCCCTGTGATAATGGGACATTTGAACAGAGACCTTAACAAAGTAAGGAAGCAAGCCTGCAGATATGAGGGGCGGGTTGCAGGTTGTGGGGAGAGAAATGTGCTTCTGGCATGAGAACAGCAGGTGGAAAGGCCCTGAAGAGGAAATGCGCTCGGTGTATTAAACAGTCAGTAAGGAGGCCGACGTGGCTGGAGCAGAGGAACATGGAGGAGTAGGGAAAATCGTAAGATGAAGAAGAGAGTTGGAGGCCGGATAATGAAGCAGCTTGGAGGCCAGGGTTGAGACACTGGGTTTTACTCTGAAAGAGAGGAAAAGCCAGTGCAAGCATTTGACAGAGAGGGCTGACACCACATGACCTTGATTCTGAAAGGATCTCCCTGAATACAGTGTGCAGAATGGACTGATGGGAGGTGGTAGTGGAAGGAAGAGACTGGCATTGGGAAGGTTGTGGTGGAGGTGGTGACAAGAGATCAGATTCTGGATTTGTTTCTCAAGTAGAGCCAGTAGGATTTGCTGGTGGATTTTTAACTTCTAGATTTAAACTTCAAATGCTGGTTCTGACAAAGAGCTTGGAAGAAATGAAATTTAAACTAGATGAATGGAGAGGGCTGGGGATCTGAAGAACTCAATTACCTTTACCCTATAGAGGAGGATGCTTACCTGGAAACACCTGATCAAGGTACCAAGCGAGTAAGCCATAGACAGCAGCATCAAGGAGCATCATCTGCATGGACAGCAGGAAGCTGAATTCGTCCCCTTCCGTGGGACTGTTCCCGATGTTGCTCCTCTGCAGCCCCAGGCCTTGCTCTTCAAAGCGAACCAGGTACTCAGTGCCAAATCCAAATGCCACCGGAGACAGTAAGCTCTGCAGTGAGGCGGAGAGGGCACAGAAAAAGAGCAGTGCCTTTTATCCAATGCAACAGCACCCAGATGCCCTCGAGGTAGAGGGGAGGGCCAAAAGAGGGTCCCCATTGTCTCTCAGTGTAAGGTCAGCTCAGGAGGGTGAAGGCAGTCTTTCCCTTGACGGCCAGGGGGAGTTCAGAGTGTCTCTCTGCAAACAAGAGAGTCTCTAGCTATACAGTCACAAAAAACATGAAACAATTCTCAGCCCAGCCCTAATCCACAGTTGCTAGACCTATAGCTTCCTAGTGATCTATGTACCCAAGAAGATGGCCTCAAATTCCATCTGCCTACTCAAGGATTACCAAAATAGCCCAACTCTGCCCACAGATGAGTCATAAGGATTTCTTGCCACTTATCCATTGTGATCATTTTAGAAAATTGGGTACTACAAATGGCAGCAATTGATTTCTTATTTAACCTAAGAAATGAAAGGCAGATGCCCTGACACCTCTGGAGCCTAATAAGTGTGAGTCGTGAGAACAAGTCAGACTTTCTGTCTTTTCCCAGTGAGGGCAGGTGGTTGTCCCTTCTTGACTCTACAGCACAGAGACAGGGAGACTCCGGAGGACAAGGGGAACTGCACCCTCCAGGGCCAGAGGCTGATTAGAGGGTGGAAATGGCCCATTTGAAAACAATTAGAGAAAAGACAGTGCTCTTTGTCTGGGTCTGGGAATTGTGAACTAGGAAGTTTCTCAGGCCATCAGAAGTCAGCTTCGGGAGTCCTCTCCTGGCCAGCGAGCCTGACTCTGTGGACAGTCTCATTTCTGCACTTCTTTCTGCAAACATTGGTAGAGCATGTTAAAGATACTTGTGGAAATACTCCAATTCAAGTTTTTTTGAAGCAAAACAAAAACCTTTAATTAATGGAAACATCTCTTTAGACAGATAGTAAAGTGGCAAGCTCCCTCCCTTCTGATTCTTCTCAAAGAGTAGGAAAGGAAAACTAGTGAAATGGGCTGCTGGCTCTCTCTTGTGAGTAAATAAAGGGACCCATGAGTTGAACTGGTTTTTTAATGACTTTCCAGGGCAGATGAATCAAGCAGGCGTGGTGAGGAGTCACTGTTGCATCGCTCGGGGTGAGGACTGCTCCCACTTTTGCCCCTGTACATTTTAGCCTCACGTGAACTTTTTAACCTTAGGTCAAAGGCAAAGTGGACCCCCTCAGAGGGCAGGCTGGGCCTCCAGGACTGCTACGGACCCTTCCAAGGAAACGTGTTGTAGGACAGGGGCCAGCCCAAGGGCCTCACCACAGCCTTCTTCAGCTCAGCGGTCATGCGGTCCTGCCAGGCGAAGCACAGGATGTGTGGCAGGTAGAGGGTGAAATAGATGACACCACTACAGGCTGCTGCCAGACTGGCCTTGGAGAAGAAGGTGCTGAGCAGAAAGCACAGCATGATGGTGGCAGTGGAGAAAGCCAACAAGAACAGGAAGAGGATGAATGGGTCGCTGTAATGTAGGATTCTTCCATGCTGAAACCAAGAGGCCATGCGTCAGTAACTCCTGCCCTTGGCCGGACGCCTTCTCATTCTGCCCTAAAGGGCTCTCTCCCACCAGCCTGCAGTTAGTGTCTAAATTTCTACGCACACTCCATGTGCTGAGTTCCTTTAATCCTAGGAATGCCATTTTCCCTGGGAGGAGTAGCACATTAGACTCCTAACAGTCATCAGTAATGTTAAAAAAATTAATTGGGAGACCATTAGGTTGAAACGGCCCCAGCATTCTGTGTTCCTACATCAGCAAACCAAAACCCAACTTAGAGAAACTTAACTAATCACAAACTGCCCACTAACCTGTAATCAGGGACTTTCCACTTGAACCAATCAAATATTTGCTTTGTTTTTCTTTGTCTTGCTTCCCTACCCCTCAGTGGGGCCCTGAACCACTTGTGATCTGGAGCCTCCTGTGAATCACTGTTTGCTGGAATCAACTCT
Task1_train_1278
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?
Pathogenic; Retinitis pigmentosa
CTTCATTTTAAAGCTGTGATTGTAAGTACAGGATTTTGGCAAAAGTGTGGGTAGCCTGGGCACCACATTTCCAGCTGGCATCTGAAGACGGGGAAGCCTTGTGGGACTGAACCCGTGGAGTCTGTGTGAATTCTGGATAGTGTCAGAATTCAATTGAATTCTTGGACAACCCATTAATATAGGAGAATTGGTTGGTGCCAAAACAACAACAACAAAAAACCAAAACACACATTTGGTGTCAGAAGTGCTGTCAAGAAAAAAGATACCAGAGTGCTAACCCCAGGTACCTCATAATGTGGCCTTGTTTAGGAACAGGGTCATTGCAGATGTGATTAGTTGAGATGAGGTCACATGGGAGCAAGGTAGGCACCTAATCCAATCCAGTTGGTATCCTTATAAGATGGCCATGTAAGACAGGCAGAATGCCATGTGCAGACGAAGGATCAGCAGGAAGCATCTACAAGTCAAGGAGTGCCCAAGCACCTACAGGTTTCAGAGGGAGCATGGCCCTGCCAACACCTTGATTTTGGACTTCCAGCCTTCAGAGCTGTGAGATATAAATGGCTGTTGTCTAAGCTGCCCAGTTAGTGGTATTTTGTTATGGCAGCCCTAGTAAATGAATGCACGCTTGCCACTAGGATGCAAACCCAGGCCTCCTGACCCAGTCTAGAAGCCTTCCTCCTATTCAGGGTGGCTGCCTACCTATTTCTGCCAACAAAGGCTGCCCTGAGATGATCTGAGAGCTGTGAGTTTGTCCCTCCCCATGGACTGGACCAGCCTCACCATCCCCTGCCTGCTTTTGGCTACAGCATCAAGAGCCAGGCATGGCTGCCACAGCACAAGGCTATTGGCTGACTTGGAGACCACTCAGAGGAAGATGGGGCAGCTCTAGTTACCAGAAAATGCTAATTTGAAGGAAAATTTGATTTTCTACCAAGCAAATACACGACCGTGCAAACAGCCAATTTTCAGAAGCTGATTTTCCATGCTACAGATTACTTAGATATTTATTCAGTGCCCACCAAAGGTCAGGCACTATTCTGGGCACTGGGACTGTCACAGTTAACAAAATAGACCACATGCATGCTCTCTGGGCTCATATTCTACTAAGGGCAGAGAGTCAGTAAATACATGCATAAGATACATCATTGTATCAGATGGTGAAGAATGTTCCCCAAAATAAAGTAGGGTAAGGGGACAGGAACCCTGGAGGAATGTTGTTTACAGAGCCATAGTTATGTAGATCTCTTCAGTCTGGAAAGATCCCTGTGATAATGGGACATTTGAACAGAGACCTTAACAAAGTAAGGAAGCAAGCCTGCAGATATGAGGGGCGGGTTGCAGGTTGTGGGGAGAGAAATGTGCTTCTGGCATGAGAACAGCAGGTGGAAAGGCCCTGAAGAGGAAATGCGCTCGGTGTATTAAACAGTCAGTAAGGAGGCCGACGTGGCTGGAGCAGAGGAACATGGAGGAGTAGGGAAAATCGTAAGATGAAGAAGAGAGTTGGAGGCCGGATAATGAAGCAGCTTGGAGGCCAGGGTTGAGACACTGGGTTTTACTCTGAAAGAGAGGAAAAGCCAGTGCAAGCATTTGACAGAGAGGGCTGACACCACATGACCTTGATTCTGAAAGGATCTCCCTGAATACAGTGTGCAGAATGGACTGATGGGAGGTGGTAGTGGAAGGAAGAGACTGGCATTGGGAAGGTTGTGGTGGAGGTGGTGACAAGAGATCAGATTCTGGATTTGTTTCTCAAGTAGAGCCAGTAGGATTTGCTGGTGGATTTTTAACTTCTAGATTTAAACTTCAAATGCTGGTTCTGACAAAGAGCTTGGAAGAAATGAAATTTAAACTAGATGAATGGAGAGGGCTGGGGATCTGAAGAACTCAATTACCTTTACCCTATAGAGGAGGATGCTTACCTGGAAACACCTGATCAAGGTACCAAGCGAGTAAGCCATAGACAGCAGCATCAAGGAGCATCATCTGCATGGACAGCAGGAAGCTGAATTCGTCCCCTTCCGTGGGACTGTTCCCGATGTTGCTCCACTGCAGCCCCAGGCCTTGCTCTTCAAAGCGAACCAGGTACTCAGTGCCAAATCCAAATGCCACCGGAGACAGTAAGCTCTGCAGTGAGGCGGAGAGGGCACAGAAAAAGAGCAGTGCCTTTTATCCAATGCAACAGCACCCAGATGCCCTCGAGGTAGAGGGGAGGGCCAAAAGAGGGTCCCCATTGTCTCTCAGTGTAAGGTCAGCTCAGGAGGGTGAAGGCAGTCTTTCCCTTGACGGCCAGGGGGAGTTCAGAGTGTCTCTCTGCAAACAAGAGAGTCTCTAGCTATACAGTCACAAAAAACATGAAACAATTCTCAGCCCAGCCCTAATCCACAGTTGCTAGACCTATAGCTTCCTAGTGATCTATGTACCCAAGAAGATGGCCTCAAATTCCATCTGCCTACTCAAGGATTACCAAAATAGCCCAACTCTGCCCACAGATGAGTCATAAGGATTTCTTGCCACTTATCCATTGTGATCATTTTAGAAAATTGGGTACTACAAATGGCAGCAATTGATTTCTTATTTAACCTAAGAAATGAAAGGCAGATGCCCTGACACCTCTGGAGCCTAATAAGTGTGAGTCGTGAGAACAAGTCAGACTTTCTGTCTTTTCCCAGTGAGGGCAGGTGGTTGTCCCTTCTTGACTCTACAGCACAGAGACAGGGAGACTCCGGAGGACAAGGGGAACTGCACCCTCCAGGGCCAGAGGCTGATTAGAGGGTGGAAATGGCCCATTTGAAAACAATTAGAGAAAAGACAGTGCTCTTTGTCTGGGTCTGGGAATTGTGAACTAGGAAGTTTCTCAGGCCATCAGAAGTCAGCTTCGGGAGTCCTCTCCTGGCCAGCGAGCCTGACTCTGTGGACAGTCTCATTTCTGCACTTCTTTCTGCAAACATTGGTAGAGCATGTTAAAGATACTTGTGGAAATACTCCAATTCAAGTTTTTTTGAAGCAAAACAAAAACCTTTAATTAATGGAAACATCTCTTTAGACAGATAGTAAAGTGGCAAGCTCCCTCCCTTCTGATTCTTCTCAAAGAGTAGGAAAGGAAAACTAGTGAAATGGGCTGCTGGCTCTCTCTTGTGAGTAAATAAAGGGACCCATGAGTTGAACTGGTTTTTTAATGACTTTCCAGGGCAGATGAATCAAGCAGGCGTGGTGAGGAGTCACTGTTGCATCGCTCGGGGTGAGGACTGCTCCCACTTTTGCCCCTGTACATTTTAGCCTCACGTGAACTTTTTAACCTTAGGTCAAAGGCAAAGTGGACCCCCTCAGAGGGCAGGCTGGGCCTCCAGGACTGCTACGGACCCTTCCAAGGAAACGTGTTGTAGGACAGGGGCCAGCCCAAGGGCCTCACCACAGCCTTCTTCAGCTCAGCGGTCATGCGGTCCTGCCAGGCGAAGCACAGGATGTGTGGCAGGTAGAGGGTGAAATAGATGACACCACTACAGGCTGCTGCCAGACTGGCCTTGGAGAAGAAGGTGCTGAGCAGAAAGCACAGCATGATGGTGGCAGTGGAGAAAGCCAACAAGAACAGGAAGAGGATGAATGGGTCGCTGTAATGTAGGATTCTTCCATGCTGAAACCAAGAGGCCATGCGTCAGTAACTCCTGCCCTTGGCCGGACGCCTTCTCATTCTGCCCTAAAGGGCTCTCTCCCACCAGCCTGCAGTTAGTGTCTAAATTTCTACGCACACTCCATGTGCTGAGTTCCTTTAATCCTAGGAATGCCATTTTCCCTGGGAGGAGTAGCACATTAGACTCCTAACAGTCATCAGTAATGTTAAAAAAATTAATTGGGAGACCATTAGGTTGAAACGGCCCCAGCATTCTGTGTTCCTACATCAGCAAACCAAAACCCAACTTAGAGAAACTTAACTAATCACAAACTGCCCACTAACCTGTAATCAGGGACTTTCCACTTGAACCAATCAAATATTTGCTTTGTTTTTCTTTGTCTTGCTTCCCTACCCCTCAGTGGGGCCCTGAACCACTTGTGATCTGGAGCCTCCTGTGAATCACTGTTTGCTGGAATCAACTCT
CTTCATTTTAAAGCTGTGATTGTAAGTACAGGATTTTGGCAAAAGTGTGGGTAGCCTGGGCACCACATTTCCAGCTGGCATCTGAAGACGGGGAAGCCTTGTGGGACTGAACCCGTGGAGTCTGTGTGAATTCTGGATAGTGTCAGAATTCAATTGAATTCTTGGACAACCCATTAATATAGGAGAATTGGTTGGTGCCAAAACAACAACAACAAAAAACCAAAACACACATTTGGTGTCAGAAGTGCTGTCAAGAAAAAAGATACCAGAGTGCTAACCCCAGGTACCTCATAATGTGGCCTTGTTTAGGAACAGGGTCATTGCAGATGTGATTAGTTGAGATGAGGTCACATGGGAGCAAGGTAGGCACCTAATCCAATCCAGTTGGTATCCTTATAAGATGGCCATGTAAGACAGGCAGAATGCCATGTGCAGACGAAGGATCAGCAGGAAGCATCTACAAGTCAAGGAGTGCCCAAGCACCTACAGGTTTCAGAGGGAGCATGGCCCTGCCAACACCTTGATTTTGGACTTCCAGCCTTCAGAGCTGTGAGATATAAATGGCTGTTGTCTAAGCTGCCCAGTTAGTGGTATTTTGTTATGGCAGCCCTAGTAAATGAATGCACGCTTGCCACTAGGATGCAAACCCAGGCCTCCTGACCCAGTCTAGAAGCCTTCCTCCTATTCAGGGTGGCTGCCTACCTATTTCTGCCAACAAAGGCTGCCCTGAGATGATCTGAGAGCTGTGAGTTTGTCCCTCCCCATGGACTGGACCAGCCTCACCATCCCCTGCCTGCTTTTGGCTACAGCATCAAGAGCCAGGCATGGCTGCCACAGCACAAGGCTATTGGCTGACTTGGAGACCACTCAGAGGAAGATGGGGCAGCTCTAGTTACCAGAAAATGCTAATTTGAAGGAAAATTTGATTTTCTACCAAGCAAATACACGACCGTGCAAACAGCCAATTTTCAGAAGCTGATTTTCCATGCTACAGATTACTTAGATATTTATTCAGTGCCCACCAAAGGTCAGGCACTATTCTGGGCACTGGGACTGTCACAGTTAACAAAATAGACCACATGCATGCTCTCTGGGCTCATATTCTACTAAGGGCAGAGAGTCAGTAAATACATGCATAAGATACATCATTGTATCAGATGGTGAAGAATGTTCCCCAAAATAAAGTAGGGTAAGGGGACAGGAACCCTGGAGGAATGTTGTTTACAGAGCCATAGTTATGTAGATCTCTTCAGTCTGGAAAGATCCCTGTGATAATGGGACATTTGAACAGAGACCTTAACAAAGTAAGGAAGCAAGCCTGCAGATATGAGGGGCGGGTTGCAGGTTGTGGGGAGAGAAATGTGCTTCTGGCATGAGAACAGCAGGTGGAAAGGCCCTGAAGAGGAAATGCGCTCGGTGTATTAAACAGTCAGTAAGGAGGCCGACGTGGCTGGAGCAGAGGAACATGGAGGAGTAGGGAAAATCGTAAGATGAAGAAGAGAGTTGGAGGCCGGATAATGAAGCAGCTTGGAGGCCAGGGTTGAGACACTGGGTTTTACTCTGAAAGAGAGGAAAAGCCAGTGCAAGCATTTGACAGAGAGGGCTGACACCACATGACCTTGATTCTGAAAGGATCTCCCTGAATACAGTGTGCAGAATGGACTGATGGGAGGTGGTAGTGGAAGGAAGAGACTGGCATTGGGAAGGTTGTGGTGGAGGTGGTGACAAGAGATCAGATTCTGGATTTGTTTCTCAAGTAGAGCCAGTAGGATTTGCTGGTGGATTTTTAACTTCTAGATTTAAACTTCAAATGCTGGTTCTGACAAAGAGCTTGGAAGAAATGAAATTTAAACTAGATGAATGGAGAGGGCTGGGGATCTGAAGAACTCAATTACCTTTACCCTATAGAGGAGGATGCTTACCTGGAAACACCTGATCAAGGTACCAAGCGAGTAAGCCATAGACAGCAGCATCAAGGAGCATCATCTGCATGGACAGCAGGAAGCTGAATTCGTCCCCTTCCGTGGGACTGTTCCCGATGTTGCTCCTCTGCAGCCCCAGGCCTTGCTCTTCAAAGCGAACCAGGTACTCAGTGCCAAATCCAAATGCCACCGGAGACAGTAAGCTCTGCAGTGAGGCGGAGAGGGCACAGAAAAAGAGCAGTGCCTTTTATCCAATGCAACAGCACCCAGATGCCCTCGAGGTAGAGGGGAGGGCCAAAAGAGGGTCCCCATTGTCTCTCAGTGTAAGGTCAGCTCAGGAGGGTGAAGGCAGTCTTTCCCTTGACGGCCAGGGGGAGTTCAGAGTGTCTCTCTGCAAACAAGAGAGTCTCTAGCTATACAGTCACAAAAAACATGAAACAATTCTCAGCCCAGCCCTAATCCACAGTTGCTAGACCTATAGCTTCCTAGTGATCTATGTACCCAAGAAGATGGCCTCAAATTCCATCTGCCTACTCAAGGATTACCAAAATAGCCCAACTCTGCCCACAGATGAGTCATAAGGATTTCTTGCCACTTATCCATTGTGATCATTTTAGAAAATTGGGTACTACAAATGGCAGCAATTGATTTCTTATTTAACCTAAGAAATGAAAGGCAGATGCCCTGACACCTCTGGAGCCTAATAAGTGTGAGTCGTGAGAACAAGTCAGACTTTCTGTCTTTTCCCAGTGAGGGCAGGTGGTTGTCCCTTCTTGACTCTACAGCACAGAGACAGGGAGACTCCGGAGGACAAGGGGAACTGCACCCTCCAGGGCCAGAGGCTGATTAGAGGGTGGAAATGGCCCATTTGAAAACAATTAGAGAAAAGACAGTGCTCTTTGTCTGGGTCTGGGAATTGTGAACTAGGAAGTTTCTCAGGCCATCAGAAGTCAGCTTCGGGAGTCCTCTCCTGGCCAGCGAGCCTGACTCTGTGGACAGTCTCATTTCTGCACTTCTTTCTGCAAACATTGGTAGAGCATGTTAAAGATACTTGTGGAAATACTCCAATTCAAGTTTTTTTGAAGCAAAACAAAAACCTTTAATTAATGGAAACATCTCTTTAGACAGATAGTAAAGTGGCAAGCTCCCTCCCTTCTGATTCTTCTCAAAGAGTAGGAAAGGAAAACTAGTGAAATGGGCTGCTGGCTCTCTCTTGTGAGTAAATAAAGGGACCCATGAGTTGAACTGGTTTTTTAATGACTTTCCAGGGCAGATGAATCAAGCAGGCGTGGTGAGGAGTCACTGTTGCATCGCTCGGGGTGAGGACTGCTCCCACTTTTGCCCCTGTACATTTTAGCCTCACGTGAACTTTTTAACCTTAGGTCAAAGGCAAAGTGGACCCCCTCAGAGGGCAGGCTGGGCCTCCAGGACTGCTACGGACCCTTCCAAGGAAACGTGTTGTAGGACAGGGGCCAGCCCAAGGGCCTCACCACAGCCTTCTTCAGCTCAGCGGTCATGCGGTCCTGCCAGGCGAAGCACAGGATGTGTGGCAGGTAGAGGGTGAAATAGATGACACCACTACAGGCTGCTGCCAGACTGGCCTTGGAGAAGAAGGTGCTGAGCAGAAAGCACAGCATGATGGTGGCAGTGGAGAAAGCCAACAAGAACAGGAAGAGGATGAATGGGTCGCTGTAATGTAGGATTCTTCCATGCTGAAACCAAGAGGCCATGCGTCAGTAACTCCTGCCCTTGGCCGGACGCCTTCTCATTCTGCCCTAAAGGGCTCTCTCCCACCAGCCTGCAGTTAGTGTCTAAATTTCTACGCACACTCCATGTGCTGAGTTCCTTTAATCCTAGGAATGCCATTTTCCCTGGGAGGAGTAGCACATTAGACTCCTAACAGTCATCAGTAATGTTAAAAAAATTAATTGGGAGACCATTAGGTTGAAACGGCCCCAGCATTCTGTGTTCCTACATCAGCAAACCAAAACCCAACTTAGAGAAACTTAACTAATCACAAACTGCCCACTAACCTGTAATCAGGGACTTTCCACTTGAACCAATCAAATATTTGCTTTGTTTTTCTTTGTCTTGCTTCCCTACCCCTCAGTGGGGCCCTGAACCACTTGTGATCTGGAGCCTCCTGTGAATCACTGTTTGCTGGAATCAACTCT
Task1_train_1279
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.
Pathogenic; Stargardt disease
TAAAGCTGTGATTGTAAGTACAGGATTTTGGCAAAAGTGTGGGTAGCCTGGGCACCACATTTCCAGCTGGCATCTGAAGACGGGGAAGCCTTGTGGGACTGAACCCGTGGAGTCTGTGTGAATTCTGGATAGTGTCAGAATTCAATTGAATTCTTGGACAACCCATTAATATAGGAGAATTGGTTGGTGCCAAAACAACAACAACAAAAAACCAAAACACACATTTGGTGTCAGAAGTGCTGTCAAGAAAAAAGATACCAGAGTGCTAACCCCAGGTACCTCATAATGTGGCCTTGTTTAGGAACAGGGTCATTGCAGATGTGATTAGTTGAGATGAGGTCACATGGGAGCAAGGTAGGCACCTAATCCAATCCAGTTGGTATCCTTATAAGATGGCCATGTAAGACAGGCAGAATGCCATGTGCAGACGAAGGATCAGCAGGAAGCATCTACAAGTCAAGGAGTGCCCAAGCACCTACAGGTTTCAGAGGGAGCATGGCCCTGCCAACACCTTGATTTTGGACTTCCAGCCTTCAGAGCTGTGAGATATAAATGGCTGTTGTCTAAGCTGCCCAGTTAGTGGTATTTTGTTATGGCAGCCCTAGTAAATGAATGCACGCTTGCCACTAGGATGCAAACCCAGGCCTCCTGACCCAGTCTAGAAGCCTTCCTCCTATTCAGGGTGGCTGCCTACCTATTTCTGCCAACAAAGGCTGCCCTGAGATGATCTGAGAGCTGTGAGTTTGTCCCTCCCCATGGACTGGACCAGCCTCACCATCCCCTGCCTGCTTTTGGCTACAGCATCAAGAGCCAGGCATGGCTGCCACAGCACAAGGCTATTGGCTGACTTGGAGACCACTCAGAGGAAGATGGGGCAGCTCTAGTTACCAGAAAATGCTAATTTGAAGGAAAATTTGATTTTCTACCAAGCAAATACACGACCGTGCAAACAGCCAATTTTCAGAAGCTGATTTTCCATGCTACAGATTACTTAGATATTTATTCAGTGCCCACCAAAGGTCAGGCACTATTCTGGGCACTGGGACTGTCACAGTTAACAAAATAGACCACATGCATGCTCTCTGGGCTCATATTCTACTAAGGGCAGAGAGTCAGTAAATACATGCATAAGATACATCATTGTATCAGATGGTGAAGAATGTTCCCCAAAATAAAGTAGGGTAAGGGGACAGGAACCCTGGAGGAATGTTGTTTACAGAGCCATAGTTATGTAGATCTCTTCAGTCTGGAAAGATCCCTGTGATAATGGGACATTTGAACAGAGACCTTAACAAAGTAAGGAAGCAAGCCTGCAGATATGAGGGGCGGGTTGCAGGTTGTGGGGAGAGAAATGTGCTTCTGGCATGAGAACAGCAGGTGGAAAGGCCCTGAAGAGGAAATGCGCTCGGTGTATTAAACAGTCAGTAAGGAGGCCGACGTGGCTGGAGCAGAGGAACATGGAGGAGTAGGGAAAATCGTAAGATGAAGAAGAGAGTTGGAGGCCGGATAATGAAGCAGCTTGGAGGCCAGGGTTGAGACACTGGGTTTTACTCTGAAAGAGAGGAAAAGCCAGTGCAAGCATTTGACAGAGAGGGCTGACACCACATGACCTTGATTCTGAAAGGATCTCCCTGAATACAGTGTGCAGAATGGACTGATGGGAGGTGGTAGTGGAAGGAAGAGACTGGCATTGGGAAGGTTGTGGTGGAGGTGGTGACAAGAGATCAGATTCTGGATTTGTTTCTCAAGTAGAGCCAGTAGGATTTGCTGGTGGATTTTTAACTTCTAGATTTAAACTTCAAATGCTGGTTCTGACAAAGAGCTTGGAAGAAATGAAATTTAAACTAGATGAATGGAGAGGGCTGGGGATCTGAAGAACTCAATTACCTTTACCCTATAGAGGAGGATGCTTACCTGGAAACACCTGATCAAGGTACCAAGCGAGTAAGCCATAGACAGCAGCATCAAGGAGCATCATCTGCATGGACAGCAGGAAGCTGAATTCGTCCCCTTCCGTGGGACTGTTCCCGATGTTGCTCCACTGCAGCCCCAGGCCTTGCTCTTCAAAGCGAACCAGGTACTCAGTGCCAAATCCAAATGCCACCGGAGACAGTAAGCTCTGCAGTGAGGCGGAGAGGGCACAGAAAAAGAGCAGTGCCTTTTATCCAATGCAACAGCACCCAGATGCCCTCGAGGTAGAGGGGAGGGCCAAAAGAGGGTCCCCATTGTCTCTCAGTGTAAGGTCAGCTCAGGAGGGTGAAGGCAGTCTTTCCCTTGACGGCCAGGGGGAGTTCAGAGTGTCTCTCTGCAAACAAGAGAGTCTCTAGCTATACAGTCACAAAAAACATGAAACAATTCTCAGCCCAGCCCTAATCCACAGTTGCTAGACCTATAGCTTCCTAGTGATCTATGTACCCAAGAAGATGGCCTCAAATTCCATCTGCCTACTCAAGGATTACCAAAATAGCCCAACTCTGCCCACAGATGAGTCATAAGGATTTCTTGCCACTTATCCATTGTGATCATTTTAGAAAATTGGGTACTACAAATGGCAGCAATTGATTTCTTATTTAACCTAAGAAATGAAAGGCAGATGCCCTGACACCTCTGGAGCCTAATAAGTGTGAGTCGTGAGAACAAGTCAGACTTTCTGTCTTTTCCCAGTGAGGGCAGGTGGTTGTCCCTTCTTGACTCTACAGCACAGAGACAGGGAGACTCCGGAGGACAAGGGGAACTGCACCCTCCAGGGCCAGAGGCTGATTAGAGGGTGGAAATGGCCCATTTGAAAACAATTAGAGAAAAGACAGTGCTCTTTGTCTGGGTCTGGGAATTGTGAACTAGGAAGTTTCTCAGGCCATCAGAAGTCAGCTTCGGGAGTCCTCTCCTGGCCAGCGAGCCTGACTCTGTGGACAGTCTCATTTCTGCACTTCTTTCTGCAAACATTGGTAGAGCATGTTAAAGATACTTGTGGAAATACTCCAATTCAAGTTTTTTTGAAGCAAAACAAAAACCTTTAATTAATGGAAACATCTCTTTAGACAGATAGTAAAGTGGCAAGCTCCCTCCCTTCTGATTCTTCTCAAAGAGTAGGAAAGGAAAACTAGTGAAATGGGCTGCTGGCTCTCTCTTGTGAGTAAATAAAGGGACCCATGAGTTGAACTGGTTTTTTAATGACTTTCCAGGGCAGATGAATCAAGCAGGCGTGGTGAGGAGTCACTGTTGCATCGCTCGGGGTGAGGACTGCTCCCACTTTTGCCCCTGTACATTTTAGCCTCACGTGAACTTTTTAACCTTAGGTCAAAGGCAAAGTGGACCCCCTCAGAGGGCAGGCTGGGCCTCCAGGACTGCTACGGACCCTTCCAAGGAAACGTGTTGTAGGACAGGGGCCAGCCCAAGGGCCTCACCACAGCCTTCTTCAGCTCAGCGGTCATGCGGTCCTGCCAGGCGAAGCACAGGATGTGTGGCAGGTAGAGGGTGAAATAGATGACACCACTACAGGCTGCTGCCAGACTGGCCTTGGAGAAGAAGGTGCTGAGCAGAAAGCACAGCATGATGGTGGCAGTGGAGAAAGCCAACAAGAACAGGAAGAGGATGAATGGGTCGCTGTAATGTAGGATTCTTCCATGCTGAAACCAAGAGGCCATGCGTCAGTAACTCCTGCCCTTGGCCGGACGCCTTCTCATTCTGCCCTAAAGGGCTCTCTCCCACCAGCCTGCAGTTAGTGTCTAAATTTCTACGCACACTCCATGTGCTGAGTTCCTTTAATCCTAGGAATGCCATTTTCCCTGGGAGGAGTAGCACATTAGACTCCTAACAGTCATCAGTAATGTTAAAAAAATTAATTGGGAGACCATTAGGTTGAAACGGCCCCAGCATTCTGTGTTCCTACATCAGCAAACCAAAACCCAACTTAGAGAAACTTAACTAATCACAAACTGCCCACTAACCTGTAATCAGGGACTTTCCACTTGAACCAATCAAATATTTGCTTTGTTTTTCTTTGTCTTGCTTCCCTACCCCTCAGTGGGGCCCTGAACCACTTGTGATCTGGAGCCTCCTGTGAATCACTGTTTGCTGGAATCAACTCTAACATTTT
TAAAGCTGTGATTGTAAGTACAGGATTTTGGCAAAAGTGTGGGTAGCCTGGGCACCACATTTCCAGCTGGCATCTGAAGACGGGGAAGCCTTGTGGGACTGAACCCGTGGAGTCTGTGTGAATTCTGGATAGTGTCAGAATTCAATTGAATTCTTGGACAACCCATTAATATAGGAGAATTGGTTGGTGCCAAAACAACAACAACAAAAAACCAAAACACACATTTGGTGTCAGAAGTGCTGTCAAGAAAAAAGATACCAGAGTGCTAACCCCAGGTACCTCATAATGTGGCCTTGTTTAGGAACAGGGTCATTGCAGATGTGATTAGTTGAGATGAGGTCACATGGGAGCAAGGTAGGCACCTAATCCAATCCAGTTGGTATCCTTATAAGATGGCCATGTAAGACAGGCAGAATGCCATGTGCAGACGAAGGATCAGCAGGAAGCATCTACAAGTCAAGGAGTGCCCAAGCACCTACAGGTTTCAGAGGGAGCATGGCCCTGCCAACACCTTGATTTTGGACTTCCAGCCTTCAGAGCTGTGAGATATAAATGGCTGTTGTCTAAGCTGCCCAGTTAGTGGTATTTTGTTATGGCAGCCCTAGTAAATGAATGCACGCTTGCCACTAGGATGCAAACCCAGGCCTCCTGACCCAGTCTAGAAGCCTTCCTCCTATTCAGGGTGGCTGCCTACCTATTTCTGCCAACAAAGGCTGCCCTGAGATGATCTGAGAGCTGTGAGTTTGTCCCTCCCCATGGACTGGACCAGCCTCACCATCCCCTGCCTGCTTTTGGCTACAGCATCAAGAGCCAGGCATGGCTGCCACAGCACAAGGCTATTGGCTGACTTGGAGACCACTCAGAGGAAGATGGGGCAGCTCTAGTTACCAGAAAATGCTAATTTGAAGGAAAATTTGATTTTCTACCAAGCAAATACACGACCGTGCAAACAGCCAATTTTCAGAAGCTGATTTTCCATGCTACAGATTACTTAGATATTTATTCAGTGCCCACCAAAGGTCAGGCACTATTCTGGGCACTGGGACTGTCACAGTTAACAAAATAGACCACATGCATGCTCTCTGGGCTCATATTCTACTAAGGGCAGAGAGTCAGTAAATACATGCATAAGATACATCATTGTATCAGATGGTGAAGAATGTTCCCCAAAATAAAGTAGGGTAAGGGGACAGGAACCCTGGAGGAATGTTGTTTACAGAGCCATAGTTATGTAGATCTCTTCAGTCTGGAAAGATCCCTGTGATAATGGGACATTTGAACAGAGACCTTAACAAAGTAAGGAAGCAAGCCTGCAGATATGAGGGGCGGGTTGCAGGTTGTGGGGAGAGAAATGTGCTTCTGGCATGAGAACAGCAGGTGGAAAGGCCCTGAAGAGGAAATGCGCTCGGTGTATTAAACAGTCAGTAAGGAGGCCGACGTGGCTGGAGCAGAGGAACATGGAGGAGTAGGGAAAATCGTAAGATGAAGAAGAGAGTTGGAGGCCGGATAATGAAGCAGCTTGGAGGCCAGGGTTGAGACACTGGGTTTTACTCTGAAAGAGAGGAAAAGCCAGTGCAAGCATTTGACAGAGAGGGCTGACACCACATGACCTTGATTCTGAAAGGATCTCCCTGAATACAGTGTGCAGAATGGACTGATGGGAGGTGGTAGTGGAAGGAAGAGACTGGCATTGGGAAGGTTGTGGTGGAGGTGGTGACAAGAGATCAGATTCTGGATTTGTTTCTCAAGTAGAGCCAGTAGGATTTGCTGGTGGATTTTTAACTTCTAGATTTAAACTTCAAATGCTGGTTCTGACAAAGAGCTTGGAAGAAATGAAATTTAAACTAGATGAATGGAGAGGGCTGGGGATCTGAAGAACTCAATTACCTTTACCCTATAGAGGAGGATGCTTACCTGGAAACACCTGATCAAGGTACCAAGCGAGTAAGCCATAGACAGCAGCATCAAGGAGCATCATCTGCATGGACAGCAGGAAGCTGAATTCGTCCCCTTCCGTGGGACTGTTCCCGATGTTGCTCCACTGCAGCGCCAGGCCTTGCTCTTCAAAGCGAACCAGGTACTCAGTGCCAAATCCAAATGCCACCGGAGACAGTAAGCTCTGCAGTGAGGCGGAGAGGGCACAGAAAAAGAGCAGTGCCTTTTATCCAATGCAACAGCACCCAGATGCCCTCGAGGTAGAGGGGAGGGCCAAAAGAGGGTCCCCATTGTCTCTCAGTGTAAGGTCAGCTCAGGAGGGTGAAGGCAGTCTTTCCCTTGACGGCCAGGGGGAGTTCAGAGTGTCTCTCTGCAAACAAGAGAGTCTCTAGCTATACAGTCACAAAAAACATGAAACAATTCTCAGCCCAGCCCTAATCCACAGTTGCTAGACCTATAGCTTCCTAGTGATCTATGTACCCAAGAAGATGGCCTCAAATTCCATCTGCCTACTCAAGGATTACCAAAATAGCCCAACTCTGCCCACAGATGAGTCATAAGGATTTCTTGCCACTTATCCATTGTGATCATTTTAGAAAATTGGGTACTACAAATGGCAGCAATTGATTTCTTATTTAACCTAAGAAATGAAAGGCAGATGCCCTGACACCTCTGGAGCCTAATAAGTGTGAGTCGTGAGAACAAGTCAGACTTTCTGTCTTTTCCCAGTGAGGGCAGGTGGTTGTCCCTTCTTGACTCTACAGCACAGAGACAGGGAGACTCCGGAGGACAAGGGGAACTGCACCCTCCAGGGCCAGAGGCTGATTAGAGGGTGGAAATGGCCCATTTGAAAACAATTAGAGAAAAGACAGTGCTCTTTGTCTGGGTCTGGGAATTGTGAACTAGGAAGTTTCTCAGGCCATCAGAAGTCAGCTTCGGGAGTCCTCTCCTGGCCAGCGAGCCTGACTCTGTGGACAGTCTCATTTCTGCACTTCTTTCTGCAAACATTGGTAGAGCATGTTAAAGATACTTGTGGAAATACTCCAATTCAAGTTTTTTTGAAGCAAAACAAAAACCTTTAATTAATGGAAACATCTCTTTAGACAGATAGTAAAGTGGCAAGCTCCCTCCCTTCTGATTCTTCTCAAAGAGTAGGAAAGGAAAACTAGTGAAATGGGCTGCTGGCTCTCTCTTGTGAGTAAATAAAGGGACCCATGAGTTGAACTGGTTTTTTAATGACTTTCCAGGGCAGATGAATCAAGCAGGCGTGGTGAGGAGTCACTGTTGCATCGCTCGGGGTGAGGACTGCTCCCACTTTTGCCCCTGTACATTTTAGCCTCACGTGAACTTTTTAACCTTAGGTCAAAGGCAAAGTGGACCCCCTCAGAGGGCAGGCTGGGCCTCCAGGACTGCTACGGACCCTTCCAAGGAAACGTGTTGTAGGACAGGGGCCAGCCCAAGGGCCTCACCACAGCCTTCTTCAGCTCAGCGGTCATGCGGTCCTGCCAGGCGAAGCACAGGATGTGTGGCAGGTAGAGGGTGAAATAGATGACACCACTACAGGCTGCTGCCAGACTGGCCTTGGAGAAGAAGGTGCTGAGCAGAAAGCACAGCATGATGGTGGCAGTGGAGAAAGCCAACAAGAACAGGAAGAGGATGAATGGGTCGCTGTAATGTAGGATTCTTCCATGCTGAAACCAAGAGGCCATGCGTCAGTAACTCCTGCCCTTGGCCGGACGCCTTCTCATTCTGCCCTAAAGGGCTCTCTCCCACCAGCCTGCAGTTAGTGTCTAAATTTCTACGCACACTCCATGTGCTGAGTTCCTTTAATCCTAGGAATGCCATTTTCCCTGGGAGGAGTAGCACATTAGACTCCTAACAGTCATCAGTAATGTTAAAAAAATTAATTGGGAGACCATTAGGTTGAAACGGCCCCAGCATTCTGTGTTCCTACATCAGCAAACCAAAACCCAACTTAGAGAAACTTAACTAATCACAAACTGCCCACTAACCTGTAATCAGGGACTTTCCACTTGAACCAATCAAATATTTGCTTTGTTTTTCTTTGTCTTGCTTCCCTACCCCTCAGTGGGGCCCTGAACCACTTGTGATCTGGAGCCTCCTGTGAATCACTGTTTGCTGGAATCAACTCTAACATTTT
Task1_train_1280
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?
Pathogenic; Retinal dystrophy
TAAAGCTGTGATTGTAAGTACAGGATTTTGGCAAAAGTGTGGGTAGCCTGGGCACCACATTTCCAGCTGGCATCTGAAGACGGGGAAGCCTTGTGGGACTGAACCCGTGGAGTCTGTGTGAATTCTGGATAGTGTCAGAATTCAATTGAATTCTTGGACAACCCATTAATATAGGAGAATTGGTTGGTGCCAAAACAACAACAACAAAAAACCAAAACACACATTTGGTGTCAGAAGTGCTGTCAAGAAAAAAGATACCAGAGTGCTAACCCCAGGTACCTCATAATGTGGCCTTGTTTAGGAACAGGGTCATTGCAGATGTGATTAGTTGAGATGAGGTCACATGGGAGCAAGGTAGGCACCTAATCCAATCCAGTTGGTATCCTTATAAGATGGCCATGTAAGACAGGCAGAATGCCATGTGCAGACGAAGGATCAGCAGGAAGCATCTACAAGTCAAGGAGTGCCCAAGCACCTACAGGTTTCAGAGGGAGCATGGCCCTGCCAACACCTTGATTTTGGACTTCCAGCCTTCAGAGCTGTGAGATATAAATGGCTGTTGTCTAAGCTGCCCAGTTAGTGGTATTTTGTTATGGCAGCCCTAGTAAATGAATGCACGCTTGCCACTAGGATGCAAACCCAGGCCTCCTGACCCAGTCTAGAAGCCTTCCTCCTATTCAGGGTGGCTGCCTACCTATTTCTGCCAACAAAGGCTGCCCTGAGATGATCTGAGAGCTGTGAGTTTGTCCCTCCCCATGGACTGGACCAGCCTCACCATCCCCTGCCTGCTTTTGGCTACAGCATCAAGAGCCAGGCATGGCTGCCACAGCACAAGGCTATTGGCTGACTTGGAGACCACTCAGAGGAAGATGGGGCAGCTCTAGTTACCAGAAAATGCTAATTTGAAGGAAAATTTGATTTTCTACCAAGCAAATACACGACCGTGCAAACAGCCAATTTTCAGAAGCTGATTTTCCATGCTACAGATTACTTAGATATTTATTCAGTGCCCACCAAAGGTCAGGCACTATTCTGGGCACTGGGACTGTCACAGTTAACAAAATAGACCACATGCATGCTCTCTGGGCTCATATTCTACTAAGGGCAGAGAGTCAGTAAATACATGCATAAGATACATCATTGTATCAGATGGTGAAGAATGTTCCCCAAAATAAAGTAGGGTAAGGGGACAGGAACCCTGGAGGAATGTTGTTTACAGAGCCATAGTTATGTAGATCTCTTCAGTCTGGAAAGATCCCTGTGATAATGGGACATTTGAACAGAGACCTTAACAAAGTAAGGAAGCAAGCCTGCAGATATGAGGGGCGGGTTGCAGGTTGTGGGGAGAGAAATGTGCTTCTGGCATGAGAACAGCAGGTGGAAAGGCCCTGAAGAGGAAATGCGCTCGGTGTATTAAACAGTCAGTAAGGAGGCCGACGTGGCTGGAGCAGAGGAACATGGAGGAGTAGGGAAAATCGTAAGATGAAGAAGAGAGTTGGAGGCCGGATAATGAAGCAGCTTGGAGGCCAGGGTTGAGACACTGGGTTTTACTCTGAAAGAGAGGAAAAGCCAGTGCAAGCATTTGACAGAGAGGGCTGACACCACATGACCTTGATTCTGAAAGGATCTCCCTGAATACAGTGTGCAGAATGGACTGATGGGAGGTGGTAGTGGAAGGAAGAGACTGGCATTGGGAAGGTTGTGGTGGAGGTGGTGACAAGAGATCAGATTCTGGATTTGTTTCTCAAGTAGAGCCAGTAGGATTTGCTGGTGGATTTTTAACTTCTAGATTTAAACTTCAAATGCTGGTTCTGACAAAGAGCTTGGAAGAAATGAAATTTAAACTAGATGAATGGAGAGGGCTGGGGATCTGAAGAACTCAATTACCTTTACCCTATAGAGGAGGATGCTTACCTGGAAACACCTGATCAAGGTACCAAGCGAGTAAGCCATAGACAGCAGCATCAAGGAGCATCATCTGCATGGACAGCAGGAAGCTGAATTCGTCCCCTTCCGTGGGACTGTTCCCGATGTTGCTCCACTGCAGCCCCAGGCCTTGCTCTTCAAAGCGAACCAGGTACTCAGTGCCAAATCCAAATGCCACCGGAGACAGTAAGCTCTGCAGTGAGGCGGAGAGGGCACAGAAAAAGAGCAGTGCCTTTTATCCAATGCAACAGCACCCAGATGCCCTCGAGGTAGAGGGGAGGGCCAAAAGAGGGTCCCCATTGTCTCTCAGTGTAAGGTCAGCTCAGGAGGGTGAAGGCAGTCTTTCCCTTGACGGCCAGGGGGAGTTCAGAGTGTCTCTCTGCAAACAAGAGAGTCTCTAGCTATACAGTCACAAAAAACATGAAACAATTCTCAGCCCAGCCCTAATCCACAGTTGCTAGACCTATAGCTTCCTAGTGATCTATGTACCCAAGAAGATGGCCTCAAATTCCATCTGCCTACTCAAGGATTACCAAAATAGCCCAACTCTGCCCACAGATGAGTCATAAGGATTTCTTGCCACTTATCCATTGTGATCATTTTAGAAAATTGGGTACTACAAATGGCAGCAATTGATTTCTTATTTAACCTAAGAAATGAAAGGCAGATGCCCTGACACCTCTGGAGCCTAATAAGTGTGAGTCGTGAGAACAAGTCAGACTTTCTGTCTTTTCCCAGTGAGGGCAGGTGGTTGTCCCTTCTTGACTCTACAGCACAGAGACAGGGAGACTCCGGAGGACAAGGGGAACTGCACCCTCCAGGGCCAGAGGCTGATTAGAGGGTGGAAATGGCCCATTTGAAAACAATTAGAGAAAAGACAGTGCTCTTTGTCTGGGTCTGGGAATTGTGAACTAGGAAGTTTCTCAGGCCATCAGAAGTCAGCTTCGGGAGTCCTCTCCTGGCCAGCGAGCCTGACTCTGTGGACAGTCTCATTTCTGCACTTCTTTCTGCAAACATTGGTAGAGCATGTTAAAGATACTTGTGGAAATACTCCAATTCAAGTTTTTTTGAAGCAAAACAAAAACCTTTAATTAATGGAAACATCTCTTTAGACAGATAGTAAAGTGGCAAGCTCCCTCCCTTCTGATTCTTCTCAAAGAGTAGGAAAGGAAAACTAGTGAAATGGGCTGCTGGCTCTCTCTTGTGAGTAAATAAAGGGACCCATGAGTTGAACTGGTTTTTTAATGACTTTCCAGGGCAGATGAATCAAGCAGGCGTGGTGAGGAGTCACTGTTGCATCGCTCGGGGTGAGGACTGCTCCCACTTTTGCCCCTGTACATTTTAGCCTCACGTGAACTTTTTAACCTTAGGTCAAAGGCAAAGTGGACCCCCTCAGAGGGCAGGCTGGGCCTCCAGGACTGCTACGGACCCTTCCAAGGAAACGTGTTGTAGGACAGGGGCCAGCCCAAGGGCCTCACCACAGCCTTCTTCAGCTCAGCGGTCATGCGGTCCTGCCAGGCGAAGCACAGGATGTGTGGCAGGTAGAGGGTGAAATAGATGACACCACTACAGGCTGCTGCCAGACTGGCCTTGGAGAAGAAGGTGCTGAGCAGAAAGCACAGCATGATGGTGGCAGTGGAGAAAGCCAACAAGAACAGGAAGAGGATGAATGGGTCGCTGTAATGTAGGATTCTTCCATGCTGAAACCAAGAGGCCATGCGTCAGTAACTCCTGCCCTTGGCCGGACGCCTTCTCATTCTGCCCTAAAGGGCTCTCTCCCACCAGCCTGCAGTTAGTGTCTAAATTTCTACGCACACTCCATGTGCTGAGTTCCTTTAATCCTAGGAATGCCATTTTCCCTGGGAGGAGTAGCACATTAGACTCCTAACAGTCATCAGTAATGTTAAAAAAATTAATTGGGAGACCATTAGGTTGAAACGGCCCCAGCATTCTGTGTTCCTACATCAGCAAACCAAAACCCAACTTAGAGAAACTTAACTAATCACAAACTGCCCACTAACCTGTAATCAGGGACTTTCCACTTGAACCAATCAAATATTTGCTTTGTTTTTCTTTGTCTTGCTTCCCTACCCCTCAGTGGGGCCCTGAACCACTTGTGATCTGGAGCCTCCTGTGAATCACTGTTTGCTGGAATCAACTCTAACATTTT
TAAAGCTGTGATTGTAAGTACAGGATTTTGGCAAAAGTGTGGGTAGCCTGGGCACCACATTTCCAGCTGGCATCTGAAGACGGGGAAGCCTTGTGGGACTGAACCCGTGGAGTCTGTGTGAATTCTGGATAGTGTCAGAATTCAATTGAATTCTTGGACAACCCATTAATATAGGAGAATTGGTTGGTGCCAAAACAACAACAACAAAAAACCAAAACACACATTTGGTGTCAGAAGTGCTGTCAAGAAAAAAGATACCAGAGTGCTAACCCCAGGTACCTCATAATGTGGCCTTGTTTAGGAACAGGGTCATTGCAGATGTGATTAGTTGAGATGAGGTCACATGGGAGCAAGGTAGGCACCTAATCCAATCCAGTTGGTATCCTTATAAGATGGCCATGTAAGACAGGCAGAATGCCATGTGCAGACGAAGGATCAGCAGGAAGCATCTACAAGTCAAGGAGTGCCCAAGCACCTACAGGTTTCAGAGGGAGCATGGCCCTGCCAACACCTTGATTTTGGACTTCCAGCCTTCAGAGCTGTGAGATATAAATGGCTGTTGTCTAAGCTGCCCAGTTAGTGGTATTTTGTTATGGCAGCCCTAGTAAATGAATGCACGCTTGCCACTAGGATGCAAACCCAGGCCTCCTGACCCAGTCTAGAAGCCTTCCTCCTATTCAGGGTGGCTGCCTACCTATTTCTGCCAACAAAGGCTGCCCTGAGATGATCTGAGAGCTGTGAGTTTGTCCCTCCCCATGGACTGGACCAGCCTCACCATCCCCTGCCTGCTTTTGGCTACAGCATCAAGAGCCAGGCATGGCTGCCACAGCACAAGGCTATTGGCTGACTTGGAGACCACTCAGAGGAAGATGGGGCAGCTCTAGTTACCAGAAAATGCTAATTTGAAGGAAAATTTGATTTTCTACCAAGCAAATACACGACCGTGCAAACAGCCAATTTTCAGAAGCTGATTTTCCATGCTACAGATTACTTAGATATTTATTCAGTGCCCACCAAAGGTCAGGCACTATTCTGGGCACTGGGACTGTCACAGTTAACAAAATAGACCACATGCATGCTCTCTGGGCTCATATTCTACTAAGGGCAGAGAGTCAGTAAATACATGCATAAGATACATCATTGTATCAGATGGTGAAGAATGTTCCCCAAAATAAAGTAGGGTAAGGGGACAGGAACCCTGGAGGAATGTTGTTTACAGAGCCATAGTTATGTAGATCTCTTCAGTCTGGAAAGATCCCTGTGATAATGGGACATTTGAACAGAGACCTTAACAAAGTAAGGAAGCAAGCCTGCAGATATGAGGGGCGGGTTGCAGGTTGTGGGGAGAGAAATGTGCTTCTGGCATGAGAACAGCAGGTGGAAAGGCCCTGAAGAGGAAATGCGCTCGGTGTATTAAACAGTCAGTAAGGAGGCCGACGTGGCTGGAGCAGAGGAACATGGAGGAGTAGGGAAAATCGTAAGATGAAGAAGAGAGTTGGAGGCCGGATAATGAAGCAGCTTGGAGGCCAGGGTTGAGACACTGGGTTTTACTCTGAAAGAGAGGAAAAGCCAGTGCAAGCATTTGACAGAGAGGGCTGACACCACATGACCTTGATTCTGAAAGGATCTCCCTGAATACAGTGTGCAGAATGGACTGATGGGAGGTGGTAGTGGAAGGAAGAGACTGGCATTGGGAAGGTTGTGGTGGAGGTGGTGACAAGAGATCAGATTCTGGATTTGTTTCTCAAGTAGAGCCAGTAGGATTTGCTGGTGGATTTTTAACTTCTAGATTTAAACTTCAAATGCTGGTTCTGACAAAGAGCTTGGAAGAAATGAAATTTAAACTAGATGAATGGAGAGGGCTGGGGATCTGAAGAACTCAATTACCTTTACCCTATAGAGGAGGATGCTTACCTGGAAACACCTGATCAAGGTACCAAGCGAGTAAGCCATAGACAGCAGCATCAAGGAGCATCATCTGCATGGACAGCAGGAAGCTGAATTCGTCCCCTTCCGTGGGACTGTTCCCGATGTTGCTCCACTGCAGCTCCAGGCCTTGCTCTTCAAAGCGAACCAGGTACTCAGTGCCAAATCCAAATGCCACCGGAGACAGTAAGCTCTGCAGTGAGGCGGAGAGGGCACAGAAAAAGAGCAGTGCCTTTTATCCAATGCAACAGCACCCAGATGCCCTCGAGGTAGAGGGGAGGGCCAAAAGAGGGTCCCCATTGTCTCTCAGTGTAAGGTCAGCTCAGGAGGGTGAAGGCAGTCTTTCCCTTGACGGCCAGGGGGAGTTCAGAGTGTCTCTCTGCAAACAAGAGAGTCTCTAGCTATACAGTCACAAAAAACATGAAACAATTCTCAGCCCAGCCCTAATCCACAGTTGCTAGACCTATAGCTTCCTAGTGATCTATGTACCCAAGAAGATGGCCTCAAATTCCATCTGCCTACTCAAGGATTACCAAAATAGCCCAACTCTGCCCACAGATGAGTCATAAGGATTTCTTGCCACTTATCCATTGTGATCATTTTAGAAAATTGGGTACTACAAATGGCAGCAATTGATTTCTTATTTAACCTAAGAAATGAAAGGCAGATGCCCTGACACCTCTGGAGCCTAATAAGTGTGAGTCGTGAGAACAAGTCAGACTTTCTGTCTTTTCCCAGTGAGGGCAGGTGGTTGTCCCTTCTTGACTCTACAGCACAGAGACAGGGAGACTCCGGAGGACAAGGGGAACTGCACCCTCCAGGGCCAGAGGCTGATTAGAGGGTGGAAATGGCCCATTTGAAAACAATTAGAGAAAAGACAGTGCTCTTTGTCTGGGTCTGGGAATTGTGAACTAGGAAGTTTCTCAGGCCATCAGAAGTCAGCTTCGGGAGTCCTCTCCTGGCCAGCGAGCCTGACTCTGTGGACAGTCTCATTTCTGCACTTCTTTCTGCAAACATTGGTAGAGCATGTTAAAGATACTTGTGGAAATACTCCAATTCAAGTTTTTTTGAAGCAAAACAAAAACCTTTAATTAATGGAAACATCTCTTTAGACAGATAGTAAAGTGGCAAGCTCCCTCCCTTCTGATTCTTCTCAAAGAGTAGGAAAGGAAAACTAGTGAAATGGGCTGCTGGCTCTCTCTTGTGAGTAAATAAAGGGACCCATGAGTTGAACTGGTTTTTTAATGACTTTCCAGGGCAGATGAATCAAGCAGGCGTGGTGAGGAGTCACTGTTGCATCGCTCGGGGTGAGGACTGCTCCCACTTTTGCCCCTGTACATTTTAGCCTCACGTGAACTTTTTAACCTTAGGTCAAAGGCAAAGTGGACCCCCTCAGAGGGCAGGCTGGGCCTCCAGGACTGCTACGGACCCTTCCAAGGAAACGTGTTGTAGGACAGGGGCCAGCCCAAGGGCCTCACCACAGCCTTCTTCAGCTCAGCGGTCATGCGGTCCTGCCAGGCGAAGCACAGGATGTGTGGCAGGTAGAGGGTGAAATAGATGACACCACTACAGGCTGCTGCCAGACTGGCCTTGGAGAAGAAGGTGCTGAGCAGAAAGCACAGCATGATGGTGGCAGTGGAGAAAGCCAACAAGAACAGGAAGAGGATGAATGGGTCGCTGTAATGTAGGATTCTTCCATGCTGAAACCAAGAGGCCATGCGTCAGTAACTCCTGCCCTTGGCCGGACGCCTTCTCATTCTGCCCTAAAGGGCTCTCTCCCACCAGCCTGCAGTTAGTGTCTAAATTTCTACGCACACTCCATGTGCTGAGTTCCTTTAATCCTAGGAATGCCATTTTCCCTGGGAGGAGTAGCACATTAGACTCCTAACAGTCATCAGTAATGTTAAAAAAATTAATTGGGAGACCATTAGGTTGAAACGGCCCCAGCATTCTGTGTTCCTACATCAGCAAACCAAAACCCAACTTAGAGAAACTTAACTAATCACAAACTGCCCACTAACCTGTAATCAGGGACTTTCCACTTGAACCAATCAAATATTTGCTTTGTTTTTCTTTGTCTTGCTTCCCTACCCCTCAGTGGGGCCCTGAACCACTTGTGATCTGGAGCCTCCTGTGAATCACTGTTTGCTGGAATCAACTCTAACATTTT
Task1_train_1281
A mutation in ABCA4 (ATP binding cassette subfamily A member 4), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; Cone-rod dystrophy 3
TAAAGCTGTGATTGTAAGTACAGGATTTTGGCAAAAGTGTGGGTAGCCTGGGCACCACATTTCCAGCTGGCATCTGAAGACGGGGAAGCCTTGTGGGACTGAACCCGTGGAGTCTGTGTGAATTCTGGATAGTGTCAGAATTCAATTGAATTCTTGGACAACCCATTAATATAGGAGAATTGGTTGGTGCCAAAACAACAACAACAAAAAACCAAAACACACATTTGGTGTCAGAAGTGCTGTCAAGAAAAAAGATACCAGAGTGCTAACCCCAGGTACCTCATAATGTGGCCTTGTTTAGGAACAGGGTCATTGCAGATGTGATTAGTTGAGATGAGGTCACATGGGAGCAAGGTAGGCACCTAATCCAATCCAGTTGGTATCCTTATAAGATGGCCATGTAAGACAGGCAGAATGCCATGTGCAGACGAAGGATCAGCAGGAAGCATCTACAAGTCAAGGAGTGCCCAAGCACCTACAGGTTTCAGAGGGAGCATGGCCCTGCCAACACCTTGATTTTGGACTTCCAGCCTTCAGAGCTGTGAGATATAAATGGCTGTTGTCTAAGCTGCCCAGTTAGTGGTATTTTGTTATGGCAGCCCTAGTAAATGAATGCACGCTTGCCACTAGGATGCAAACCCAGGCCTCCTGACCCAGTCTAGAAGCCTTCCTCCTATTCAGGGTGGCTGCCTACCTATTTCTGCCAACAAAGGCTGCCCTGAGATGATCTGAGAGCTGTGAGTTTGTCCCTCCCCATGGACTGGACCAGCCTCACCATCCCCTGCCTGCTTTTGGCTACAGCATCAAGAGCCAGGCATGGCTGCCACAGCACAAGGCTATTGGCTGACTTGGAGACCACTCAGAGGAAGATGGGGCAGCTCTAGTTACCAGAAAATGCTAATTTGAAGGAAAATTTGATTTTCTACCAAGCAAATACACGACCGTGCAAACAGCCAATTTTCAGAAGCTGATTTTCCATGCTACAGATTACTTAGATATTTATTCAGTGCCCACCAAAGGTCAGGCACTATTCTGGGCACTGGGACTGTCACAGTTAACAAAATAGACCACATGCATGCTCTCTGGGCTCATATTCTACTAAGGGCAGAGAGTCAGTAAATACATGCATAAGATACATCATTGTATCAGATGGTGAAGAATGTTCCCCAAAATAAAGTAGGGTAAGGGGACAGGAACCCTGGAGGAATGTTGTTTACAGAGCCATAGTTATGTAGATCTCTTCAGTCTGGAAAGATCCCTGTGATAATGGGACATTTGAACAGAGACCTTAACAAAGTAAGGAAGCAAGCCTGCAGATATGAGGGGCGGGTTGCAGGTTGTGGGGAGAGAAATGTGCTTCTGGCATGAGAACAGCAGGTGGAAAGGCCCTGAAGAGGAAATGCGCTCGGTGTATTAAACAGTCAGTAAGGAGGCCGACGTGGCTGGAGCAGAGGAACATGGAGGAGTAGGGAAAATCGTAAGATGAAGAAGAGAGTTGGAGGCCGGATAATGAAGCAGCTTGGAGGCCAGGGTTGAGACACTGGGTTTTACTCTGAAAGAGAGGAAAAGCCAGTGCAAGCATTTGACAGAGAGGGCTGACACCACATGACCTTGATTCTGAAAGGATCTCCCTGAATACAGTGTGCAGAATGGACTGATGGGAGGTGGTAGTGGAAGGAAGAGACTGGCATTGGGAAGGTTGTGGTGGAGGTGGTGACAAGAGATCAGATTCTGGATTTGTTTCTCAAGTAGAGCCAGTAGGATTTGCTGGTGGATTTTTAACTTCTAGATTTAAACTTCAAATGCTGGTTCTGACAAAGAGCTTGGAAGAAATGAAATTTAAACTAGATGAATGGAGAGGGCTGGGGATCTGAAGAACTCAATTACCTTTACCCTATAGAGGAGGATGCTTACCTGGAAACACCTGATCAAGGTACCAAGCGAGTAAGCCATAGACAGCAGCATCAAGGAGCATCATCTGCATGGACAGCAGGAAGCTGAATTCGTCCCCTTCCGTGGGACTGTTCCCGATGTTGCTCCACTGCAGCCCCAGGCCTTGCTCTTCAAAGCGAACCAGGTACTCAGTGCCAAATCCAAATGCCACCGGAGACAGTAAGCTCTGCAGTGAGGCGGAGAGGGCACAGAAAAAGAGCAGTGCCTTTTATCCAATGCAACAGCACCCAGATGCCCTCGAGGTAGAGGGGAGGGCCAAAAGAGGGTCCCCATTGTCTCTCAGTGTAAGGTCAGCTCAGGAGGGTGAAGGCAGTCTTTCCCTTGACGGCCAGGGGGAGTTCAGAGTGTCTCTCTGCAAACAAGAGAGTCTCTAGCTATACAGTCACAAAAAACATGAAACAATTCTCAGCCCAGCCCTAATCCACAGTTGCTAGACCTATAGCTTCCTAGTGATCTATGTACCCAAGAAGATGGCCTCAAATTCCATCTGCCTACTCAAGGATTACCAAAATAGCCCAACTCTGCCCACAGATGAGTCATAAGGATTTCTTGCCACTTATCCATTGTGATCATTTTAGAAAATTGGGTACTACAAATGGCAGCAATTGATTTCTTATTTAACCTAAGAAATGAAAGGCAGATGCCCTGACACCTCTGGAGCCTAATAAGTGTGAGTCGTGAGAACAAGTCAGACTTTCTGTCTTTTCCCAGTGAGGGCAGGTGGTTGTCCCTTCTTGACTCTACAGCACAGAGACAGGGAGACTCCGGAGGACAAGGGGAACTGCACCCTCCAGGGCCAGAGGCTGATTAGAGGGTGGAAATGGCCCATTTGAAAACAATTAGAGAAAAGACAGTGCTCTTTGTCTGGGTCTGGGAATTGTGAACTAGGAAGTTTCTCAGGCCATCAGAAGTCAGCTTCGGGAGTCCTCTCCTGGCCAGCGAGCCTGACTCTGTGGACAGTCTCATTTCTGCACTTCTTTCTGCAAACATTGGTAGAGCATGTTAAAGATACTTGTGGAAATACTCCAATTCAAGTTTTTTTGAAGCAAAACAAAAACCTTTAATTAATGGAAACATCTCTTTAGACAGATAGTAAAGTGGCAAGCTCCCTCCCTTCTGATTCTTCTCAAAGAGTAGGAAAGGAAAACTAGTGAAATGGGCTGCTGGCTCTCTCTTGTGAGTAAATAAAGGGACCCATGAGTTGAACTGGTTTTTTAATGACTTTCCAGGGCAGATGAATCAAGCAGGCGTGGTGAGGAGTCACTGTTGCATCGCTCGGGGTGAGGACTGCTCCCACTTTTGCCCCTGTACATTTTAGCCTCACGTGAACTTTTTAACCTTAGGTCAAAGGCAAAGTGGACCCCCTCAGAGGGCAGGCTGGGCCTCCAGGACTGCTACGGACCCTTCCAAGGAAACGTGTTGTAGGACAGGGGCCAGCCCAAGGGCCTCACCACAGCCTTCTTCAGCTCAGCGGTCATGCGGTCCTGCCAGGCGAAGCACAGGATGTGTGGCAGGTAGAGGGTGAAATAGATGACACCACTACAGGCTGCTGCCAGACTGGCCTTGGAGAAGAAGGTGCTGAGCAGAAAGCACAGCATGATGGTGGCAGTGGAGAAAGCCAACAAGAACAGGAAGAGGATGAATGGGTCGCTGTAATGTAGGATTCTTCCATGCTGAAACCAAGAGGCCATGCGTCAGTAACTCCTGCCCTTGGCCGGACGCCTTCTCATTCTGCCCTAAAGGGCTCTCTCCCACCAGCCTGCAGTTAGTGTCTAAATTTCTACGCACACTCCATGTGCTGAGTTCCTTTAATCCTAGGAATGCCATTTTCCCTGGGAGGAGTAGCACATTAGACTCCTAACAGTCATCAGTAATGTTAAAAAAATTAATTGGGAGACCATTAGGTTGAAACGGCCCCAGCATTCTGTGTTCCTACATCAGCAAACCAAAACCCAACTTAGAGAAACTTAACTAATCACAAACTGCCCACTAACCTGTAATCAGGGACTTTCCACTTGAACCAATCAAATATTTGCTTTGTTTTTCTTTGTCTTGCTTCCCTACCCCTCAGTGGGGCCCTGAACCACTTGTGATCTGGAGCCTCCTGTGAATCACTGTTTGCTGGAATCAACTCTAACATTTT
TAAAGCTGTGATTGTAAGTACAGGATTTTGGCAAAAGTGTGGGTAGCCTGGGCACCACATTTCCAGCTGGCATCTGAAGACGGGGAAGCCTTGTGGGACTGAACCCGTGGAGTCTGTGTGAATTCTGGATAGTGTCAGAATTCAATTGAATTCTTGGACAACCCATTAATATAGGAGAATTGGTTGGTGCCAAAACAACAACAACAAAAAACCAAAACACACATTTGGTGTCAGAAGTGCTGTCAAGAAAAAAGATACCAGAGTGCTAACCCCAGGTACCTCATAATGTGGCCTTGTTTAGGAACAGGGTCATTGCAGATGTGATTAGTTGAGATGAGGTCACATGGGAGCAAGGTAGGCACCTAATCCAATCCAGTTGGTATCCTTATAAGATGGCCATGTAAGACAGGCAGAATGCCATGTGCAGACGAAGGATCAGCAGGAAGCATCTACAAGTCAAGGAGTGCCCAAGCACCTACAGGTTTCAGAGGGAGCATGGCCCTGCCAACACCTTGATTTTGGACTTCCAGCCTTCAGAGCTGTGAGATATAAATGGCTGTTGTCTAAGCTGCCCAGTTAGTGGTATTTTGTTATGGCAGCCCTAGTAAATGAATGCACGCTTGCCACTAGGATGCAAACCCAGGCCTCCTGACCCAGTCTAGAAGCCTTCCTCCTATTCAGGGTGGCTGCCTACCTATTTCTGCCAACAAAGGCTGCCCTGAGATGATCTGAGAGCTGTGAGTTTGTCCCTCCCCATGGACTGGACCAGCCTCACCATCCCCTGCCTGCTTTTGGCTACAGCATCAAGAGCCAGGCATGGCTGCCACAGCACAAGGCTATTGGCTGACTTGGAGACCACTCAGAGGAAGATGGGGCAGCTCTAGTTACCAGAAAATGCTAATTTGAAGGAAAATTTGATTTTCTACCAAGCAAATACACGACCGTGCAAACAGCCAATTTTCAGAAGCTGATTTTCCATGCTACAGATTACTTAGATATTTATTCAGTGCCCACCAAAGGTCAGGCACTATTCTGGGCACTGGGACTGTCACAGTTAACAAAATAGACCACATGCATGCTCTCTGGGCTCATATTCTACTAAGGGCAGAGAGTCAGTAAATACATGCATAAGATACATCATTGTATCAGATGGTGAAGAATGTTCCCCAAAATAAAGTAGGGTAAGGGGACAGGAACCCTGGAGGAATGTTGTTTACAGAGCCATAGTTATGTAGATCTCTTCAGTCTGGAAAGATCCCTGTGATAATGGGACATTTGAACAGAGACCTTAACAAAGTAAGGAAGCAAGCCTGCAGATATGAGGGGCGGGTTGCAGGTTGTGGGGAGAGAAATGTGCTTCTGGCATGAGAACAGCAGGTGGAAAGGCCCTGAAGAGGAAATGCGCTCGGTGTATTAAACAGTCAGTAAGGAGGCCGACGTGGCTGGAGCAGAGGAACATGGAGGAGTAGGGAAAATCGTAAGATGAAGAAGAGAGTTGGAGGCCGGATAATGAAGCAGCTTGGAGGCCAGGGTTGAGACACTGGGTTTTACTCTGAAAGAGAGGAAAAGCCAGTGCAAGCATTTGACAGAGAGGGCTGACACCACATGACCTTGATTCTGAAAGGATCTCCCTGAATACAGTGTGCAGAATGGACTGATGGGAGGTGGTAGTGGAAGGAAGAGACTGGCATTGGGAAGGTTGTGGTGGAGGTGGTGACAAGAGATCAGATTCTGGATTTGTTTCTCAAGTAGAGCCAGTAGGATTTGCTGGTGGATTTTTAACTTCTAGATTTAAACTTCAAATGCTGGTTCTGACAAAGAGCTTGGAAGAAATGAAATTTAAACTAGATGAATGGAGAGGGCTGGGGATCTGAAGAACTCAATTACCTTTACCCTATAGAGGAGGATGCTTACCTGGAAACACCTGATCAAGGTACCAAGCGAGTAAGCCATAGACAGCAGCATCAAGGAGCATCATCTGCATGGACAGCAGGAAGCTGAATTCGTCCCCTTCCGTGGGACTGTTCCCGATGTTGCTCCACTGCAGCTCCAGGCCTTGCTCTTCAAAGCGAACCAGGTACTCAGTGCCAAATCCAAATGCCACCGGAGACAGTAAGCTCTGCAGTGAGGCGGAGAGGGCACAGAAAAAGAGCAGTGCCTTTTATCCAATGCAACAGCACCCAGATGCCCTCGAGGTAGAGGGGAGGGCCAAAAGAGGGTCCCCATTGTCTCTCAGTGTAAGGTCAGCTCAGGAGGGTGAAGGCAGTCTTTCCCTTGACGGCCAGGGGGAGTTCAGAGTGTCTCTCTGCAAACAAGAGAGTCTCTAGCTATACAGTCACAAAAAACATGAAACAATTCTCAGCCCAGCCCTAATCCACAGTTGCTAGACCTATAGCTTCCTAGTGATCTATGTACCCAAGAAGATGGCCTCAAATTCCATCTGCCTACTCAAGGATTACCAAAATAGCCCAACTCTGCCCACAGATGAGTCATAAGGATTTCTTGCCACTTATCCATTGTGATCATTTTAGAAAATTGGGTACTACAAATGGCAGCAATTGATTTCTTATTTAACCTAAGAAATGAAAGGCAGATGCCCTGACACCTCTGGAGCCTAATAAGTGTGAGTCGTGAGAACAAGTCAGACTTTCTGTCTTTTCCCAGTGAGGGCAGGTGGTTGTCCCTTCTTGACTCTACAGCACAGAGACAGGGAGACTCCGGAGGACAAGGGGAACTGCACCCTCCAGGGCCAGAGGCTGATTAGAGGGTGGAAATGGCCCATTTGAAAACAATTAGAGAAAAGACAGTGCTCTTTGTCTGGGTCTGGGAATTGTGAACTAGGAAGTTTCTCAGGCCATCAGAAGTCAGCTTCGGGAGTCCTCTCCTGGCCAGCGAGCCTGACTCTGTGGACAGTCTCATTTCTGCACTTCTTTCTGCAAACATTGGTAGAGCATGTTAAAGATACTTGTGGAAATACTCCAATTCAAGTTTTTTTGAAGCAAAACAAAAACCTTTAATTAATGGAAACATCTCTTTAGACAGATAGTAAAGTGGCAAGCTCCCTCCCTTCTGATTCTTCTCAAAGAGTAGGAAAGGAAAACTAGTGAAATGGGCTGCTGGCTCTCTCTTGTGAGTAAATAAAGGGACCCATGAGTTGAACTGGTTTTTTAATGACTTTCCAGGGCAGATGAATCAAGCAGGCGTGGTGAGGAGTCACTGTTGCATCGCTCGGGGTGAGGACTGCTCCCACTTTTGCCCCTGTACATTTTAGCCTCACGTGAACTTTTTAACCTTAGGTCAAAGGCAAAGTGGACCCCCTCAGAGGGCAGGCTGGGCCTCCAGGACTGCTACGGACCCTTCCAAGGAAACGTGTTGTAGGACAGGGGCCAGCCCAAGGGCCTCACCACAGCCTTCTTCAGCTCAGCGGTCATGCGGTCCTGCCAGGCGAAGCACAGGATGTGTGGCAGGTAGAGGGTGAAATAGATGACACCACTACAGGCTGCTGCCAGACTGGCCTTGGAGAAGAAGGTGCTGAGCAGAAAGCACAGCATGATGGTGGCAGTGGAGAAAGCCAACAAGAACAGGAAGAGGATGAATGGGTCGCTGTAATGTAGGATTCTTCCATGCTGAAACCAAGAGGCCATGCGTCAGTAACTCCTGCCCTTGGCCGGACGCCTTCTCATTCTGCCCTAAAGGGCTCTCTCCCACCAGCCTGCAGTTAGTGTCTAAATTTCTACGCACACTCCATGTGCTGAGTTCCTTTAATCCTAGGAATGCCATTTTCCCTGGGAGGAGTAGCACATTAGACTCCTAACAGTCATCAGTAATGTTAAAAAAATTAATTGGGAGACCATTAGGTTGAAACGGCCCCAGCATTCTGTGTTCCTACATCAGCAAACCAAAACCCAACTTAGAGAAACTTAACTAATCACAAACTGCCCACTAACCTGTAATCAGGGACTTTCCACTTGAACCAATCAAATATTTGCTTTGTTTTTCTTTGTCTTGCTTCCCTACCCCTCAGTGGGGCCCTGAACCACTTGTGATCTGGAGCCTCCTGTGAATCACTGTTTGCTGGAATCAACTCTAACATTTT
Task1_train_1282
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?
Pathogenic; not provided
GCATCTGAAGACGGGGAAGCCTTGTGGGACTGAACCCGTGGAGTCTGTGTGAATTCTGGATAGTGTCAGAATTCAATTGAATTCTTGGACAACCCATTAATATAGGAGAATTGGTTGGTGCCAAAACAACAACAACAAAAAACCAAAACACACATTTGGTGTCAGAAGTGCTGTCAAGAAAAAAGATACCAGAGTGCTAACCCCAGGTACCTCATAATGTGGCCTTGTTTAGGAACAGGGTCATTGCAGATGTGATTAGTTGAGATGAGGTCACATGGGAGCAAGGTAGGCACCTAATCCAATCCAGTTGGTATCCTTATAAGATGGCCATGTAAGACAGGCAGAATGCCATGTGCAGACGAAGGATCAGCAGGAAGCATCTACAAGTCAAGGAGTGCCCAAGCACCTACAGGTTTCAGAGGGAGCATGGCCCTGCCAACACCTTGATTTTGGACTTCCAGCCTTCAGAGCTGTGAGATATAAATGGCTGTTGTCTAAGCTGCCCAGTTAGTGGTATTTTGTTATGGCAGCCCTAGTAAATGAATGCACGCTTGCCACTAGGATGCAAACCCAGGCCTCCTGACCCAGTCTAGAAGCCTTCCTCCTATTCAGGGTGGCTGCCTACCTATTTCTGCCAACAAAGGCTGCCCTGAGATGATCTGAGAGCTGTGAGTTTGTCCCTCCCCATGGACTGGACCAGCCTCACCATCCCCTGCCTGCTTTTGGCTACAGCATCAAGAGCCAGGCATGGCTGCCACAGCACAAGGCTATTGGCTGACTTGGAGACCACTCAGAGGAAGATGGGGCAGCTCTAGTTACCAGAAAATGCTAATTTGAAGGAAAATTTGATTTTCTACCAAGCAAATACACGACCGTGCAAACAGCCAATTTTCAGAAGCTGATTTTCCATGCTACAGATTACTTAGATATTTATTCAGTGCCCACCAAAGGTCAGGCACTATTCTGGGCACTGGGACTGTCACAGTTAACAAAATAGACCACATGCATGCTCTCTGGGCTCATATTCTACTAAGGGCAGAGAGTCAGTAAATACATGCATAAGATACATCATTGTATCAGATGGTGAAGAATGTTCCCCAAAATAAAGTAGGGTAAGGGGACAGGAACCCTGGAGGAATGTTGTTTACAGAGCCATAGTTATGTAGATCTCTTCAGTCTGGAAAGATCCCTGTGATAATGGGACATTTGAACAGAGACCTTAACAAAGTAAGGAAGCAAGCCTGCAGATATGAGGGGCGGGTTGCAGGTTGTGGGGAGAGAAATGTGCTTCTGGCATGAGAACAGCAGGTGGAAAGGCCCTGAAGAGGAAATGCGCTCGGTGTATTAAACAGTCAGTAAGGAGGCCGACGTGGCTGGAGCAGAGGAACATGGAGGAGTAGGGAAAATCGTAAGATGAAGAAGAGAGTTGGAGGCCGGATAATGAAGCAGCTTGGAGGCCAGGGTTGAGACACTGGGTTTTACTCTGAAAGAGAGGAAAAGCCAGTGCAAGCATTTGACAGAGAGGGCTGACACCACATGACCTTGATTCTGAAAGGATCTCCCTGAATACAGTGTGCAGAATGGACTGATGGGAGGTGGTAGTGGAAGGAAGAGACTGGCATTGGGAAGGTTGTGGTGGAGGTGGTGACAAGAGATCAGATTCTGGATTTGTTTCTCAAGTAGAGCCAGTAGGATTTGCTGGTGGATTTTTAACTTCTAGATTTAAACTTCAAATGCTGGTTCTGACAAAGAGCTTGGAAGAAATGAAATTTAAACTAGATGAATGGAGAGGGCTGGGGATCTGAAGAACTCAATTACCTTTACCCTATAGAGGAGGATGCTTACCTGGAAACACCTGATCAAGGTACCAAGCGAGTAAGCCATAGACAGCAGCATCAAGGAGCATCATCTGCATGGACAGCAGGAAGCTGAATTCGTCCCCTTCCGTGGGACTGTTCCCGATGTTGCTCCACTGCAGCCCCAGGCCTTGCTCTTCAAAGCGAACCAGGTACTCAGTGCCAAATCCAAATGCCACCGGAGACAGTAAGCTCTGCAGTGAGGCGGAGAGGGCACAGAAAAAGAGCAGTGCCTTTTATCCAATGCAACAGCACCCAGATGCCCTCGAGGTAGAGGGGAGGGCCAAAAGAGGGTCCCCATTGTCTCTCAGTGTAAGGTCAGCTCAGGAGGGTGAAGGCAGTCTTTCCCTTGACGGCCAGGGGGAGTTCAGAGTGTCTCTCTGCAAACAAGAGAGTCTCTAGCTATACAGTCACAAAAAACATGAAACAATTCTCAGCCCAGCCCTAATCCACAGTTGCTAGACCTATAGCTTCCTAGTGATCTATGTACCCAAGAAGATGGCCTCAAATTCCATCTGCCTACTCAAGGATTACCAAAATAGCCCAACTCTGCCCACAGATGAGTCATAAGGATTTCTTGCCACTTATCCATTGTGATCATTTTAGAAAATTGGGTACTACAAATGGCAGCAATTGATTTCTTATTTAACCTAAGAAATGAAAGGCAGATGCCCTGACACCTCTGGAGCCTAATAAGTGTGAGTCGTGAGAACAAGTCAGACTTTCTGTCTTTTCCCAGTGAGGGCAGGTGGTTGTCCCTTCTTGACTCTACAGCACAGAGACAGGGAGACTCCGGAGGACAAGGGGAACTGCACCCTCCAGGGCCAGAGGCTGATTAGAGGGTGGAAATGGCCCATTTGAAAACAATTAGAGAAAAGACAGTGCTCTTTGTCTGGGTCTGGGAATTGTGAACTAGGAAGTTTCTCAGGCCATCAGAAGTCAGCTTCGGGAGTCCTCTCCTGGCCAGCGAGCCTGACTCTGTGGACAGTCTCATTTCTGCACTTCTTTCTGCAAACATTGGTAGAGCATGTTAAAGATACTTGTGGAAATACTCCAATTCAAGTTTTTTTGAAGCAAAACAAAAACCTTTAATTAATGGAAACATCTCTTTAGACAGATAGTAAAGTGGCAAGCTCCCTCCCTTCTGATTCTTCTCAAAGAGTAGGAAAGGAAAACTAGTGAAATGGGCTGCTGGCTCTCTCTTGTGAGTAAATAAAGGGACCCATGAGTTGAACTGGTTTTTTAATGACTTTCCAGGGCAGATGAATCAAGCAGGCGTGGTGAGGAGTCACTGTTGCATCGCTCGGGGTGAGGACTGCTCCCACTTTTGCCCCTGTACATTTTAGCCTCACGTGAACTTTTTAACCTTAGGTCAAAGGCAAAGTGGACCCCCTCAGAGGGCAGGCTGGGCCTCCAGGACTGCTACGGACCCTTCCAAGGAAACGTGTTGTAGGACAGGGGCCAGCCCAAGGGCCTCACCACAGCCTTCTTCAGCTCAGCGGTCATGCGGTCCTGCCAGGCGAAGCACAGGATGTGTGGCAGGTAGAGGGTGAAATAGATGACACCACTACAGGCTGCTGCCAGACTGGCCTTGGAGAAGAAGGTGCTGAGCAGAAAGCACAGCATGATGGTGGCAGTGGAGAAAGCCAACAAGAACAGGAAGAGGATGAATGGGTCGCTGTAATGTAGGATTCTTCCATGCTGAAACCAAGAGGCCATGCGTCAGTAACTCCTGCCCTTGGCCGGACGCCTTCTCATTCTGCCCTAAAGGGCTCTCTCCCACCAGCCTGCAGTTAGTGTCTAAATTTCTACGCACACTCCATGTGCTGAGTTCCTTTAATCCTAGGAATGCCATTTTCCCTGGGAGGAGTAGCACATTAGACTCCTAACAGTCATCAGTAATGTTAAAAAAATTAATTGGGAGACCATTAGGTTGAAACGGCCCCAGCATTCTGTGTTCCTACATCAGCAAACCAAAACCCAACTTAGAGAAACTTAACTAATCACAAACTGCCCACTAACCTGTAATCAGGGACTTTCCACTTGAACCAATCAAATATTTGCTTTGTTTTTCTTTGTCTTGCTTCCCTACCCCTCAGTGGGGCCCTGAACCACTTGTGATCTGGAGCCTCCTGTGAATCACTGTTTGCTGGAATCAACTCTAACATTTTAATGTGCCTAAGTTTCTCTTTTAATAGTATTTATTATGTGTTAAGTAAGCAAATCCTCGGTGAGAAGAG
GCATCTGAAGACGGGGAAGCCTTGTGGGACTGAACCCGTGGAGTCTGTGTGAATTCTGGATAGTGTCAGAATTCAATTGAATTCTTGGACAACCCATTAATATAGGAGAATTGGTTGGTGCCAAAACAACAACAACAAAAAACCAAAACACACATTTGGTGTCAGAAGTGCTGTCAAGAAAAAAGATACCAGAGTGCTAACCCCAGGTACCTCATAATGTGGCCTTGTTTAGGAACAGGGTCATTGCAGATGTGATTAGTTGAGATGAGGTCACATGGGAGCAAGGTAGGCACCTAATCCAATCCAGTTGGTATCCTTATAAGATGGCCATGTAAGACAGGCAGAATGCCATGTGCAGACGAAGGATCAGCAGGAAGCATCTACAAGTCAAGGAGTGCCCAAGCACCTACAGGTTTCAGAGGGAGCATGGCCCTGCCAACACCTTGATTTTGGACTTCCAGCCTTCAGAGCTGTGAGATATAAATGGCTGTTGTCTAAGCTGCCCAGTTAGTGGTATTTTGTTATGGCAGCCCTAGTAAATGAATGCACGCTTGCCACTAGGATGCAAACCCAGGCCTCCTGACCCAGTCTAGAAGCCTTCCTCCTATTCAGGGTGGCTGCCTACCTATTTCTGCCAACAAAGGCTGCCCTGAGATGATCTGAGAGCTGTGAGTTTGTCCCTCCCCATGGACTGGACCAGCCTCACCATCCCCTGCCTGCTTTTGGCTACAGCATCAAGAGCCAGGCATGGCTGCCACAGCACAAGGCTATTGGCTGACTTGGAGACCACTCAGAGGAAGATGGGGCAGCTCTAGTTACCAGAAAATGCTAATTTGAAGGAAAATTTGATTTTCTACCAAGCAAATACACGACCGTGCAAACAGCCAATTTTCAGAAGCTGATTTTCCATGCTACAGATTACTTAGATATTTATTCAGTGCCCACCAAAGGTCAGGCACTATTCTGGGCACTGGGACTGTCACAGTTAACAAAATAGACCACATGCATGCTCTCTGGGCTCATATTCTACTAAGGGCAGAGAGTCAGTAAATACATGCATAAGATACATCATTGTATCAGATGGTGAAGAATGTTCCCCAAAATAAAGTAGGGTAAGGGGACAGGAACCCTGGAGGAATGTTGTTTACAGAGCCATAGTTATGTAGATCTCTTCAGTCTGGAAAGATCCCTGTGATAATGGGACATTTGAACAGAGACCTTAACAAAGTAAGGAAGCAAGCCTGCAGATATGAGGGGCGGGTTGCAGGTTGTGGGGAGAGAAATGTGCTTCTGGCATGAGAACAGCAGGTGGAAAGGCCCTGAAGAGGAAATGCGCTCGGTGTATTAAACAGTCAGTAAGGAGGCCGACGTGGCTGGAGCAGAGGAACATGGAGGAGTAGGGAAAATCGTAAGATGAAGAAGAGAGTTGGAGGCCGGATAATGAAGCAGCTTGGAGGCCAGGGTTGAGACACTGGGTTTTACTCTGAAAGAGAGGAAAAGCCAGTGCAAGCATTTGACAGAGAGGGCTGACACCACATGACCTTGATTCTGAAAGGATCTCCCTGAATACAGTGTGCAGAATGGACTGATGGGAGGTGGTAGTGGAAGGAAGAGACTGGCATTGGGAAGGTTGTGGTGGAGGTGGTGACAAGAGATCAGATTCTGGATTTGTTTCTCAAGTAGAGCCAGTAGGATTTGCTGGTGGATTTTTAACTTCTAGATTTAAACTTCAAATGCTGGTTCTGACAAAGAGCTTGGAAGAAATGAAATTTAAACTAGATGAATGGAGAGGGCTGGGGATCTGAAGAACTCAATTACCTTTACCCTATAGAGGAGGATGCTTACCTGGAAACACCTGATCAAGGTACCAAGCGAGTAAGCCATAGACAGCAGCATCAAGGAGCATCATCTGCATGGACAGCAGGAAGCTGAATTCGTCCCCTTCCGTGGGACTGTTCCCGATGTTGCTCCACTGCAGCCCCAGGCCTTGCTCTTCAAAGCGAACCAGGTACTCAGTGCCAAATCCAAATGCCACCGGAGACAGTAAGTTCTGCAGTGAGGCGGAGAGGGCACAGAAAAAGAGCAGTGCCTTTTATCCAATGCAACAGCACCCAGATGCCCTCGAGGTAGAGGGGAGGGCCAAAAGAGGGTCCCCATTGTCTCTCAGTGTAAGGTCAGCTCAGGAGGGTGAAGGCAGTCTTTCCCTTGACGGCCAGGGGGAGTTCAGAGTGTCTCTCTGCAAACAAGAGAGTCTCTAGCTATACAGTCACAAAAAACATGAAACAATTCTCAGCCCAGCCCTAATCCACAGTTGCTAGACCTATAGCTTCCTAGTGATCTATGTACCCAAGAAGATGGCCTCAAATTCCATCTGCCTACTCAAGGATTACCAAAATAGCCCAACTCTGCCCACAGATGAGTCATAAGGATTTCTTGCCACTTATCCATTGTGATCATTTTAGAAAATTGGGTACTACAAATGGCAGCAATTGATTTCTTATTTAACCTAAGAAATGAAAGGCAGATGCCCTGACACCTCTGGAGCCTAATAAGTGTGAGTCGTGAGAACAAGTCAGACTTTCTGTCTTTTCCCAGTGAGGGCAGGTGGTTGTCCCTTCTTGACTCTACAGCACAGAGACAGGGAGACTCCGGAGGACAAGGGGAACTGCACCCTCCAGGGCCAGAGGCTGATTAGAGGGTGGAAATGGCCCATTTGAAAACAATTAGAGAAAAGACAGTGCTCTTTGTCTGGGTCTGGGAATTGTGAACTAGGAAGTTTCTCAGGCCATCAGAAGTCAGCTTCGGGAGTCCTCTCCTGGCCAGCGAGCCTGACTCTGTGGACAGTCTCATTTCTGCACTTCTTTCTGCAAACATTGGTAGAGCATGTTAAAGATACTTGTGGAAATACTCCAATTCAAGTTTTTTTGAAGCAAAACAAAAACCTTTAATTAATGGAAACATCTCTTTAGACAGATAGTAAAGTGGCAAGCTCCCTCCCTTCTGATTCTTCTCAAAGAGTAGGAAAGGAAAACTAGTGAAATGGGCTGCTGGCTCTCTCTTGTGAGTAAATAAAGGGACCCATGAGTTGAACTGGTTTTTTAATGACTTTCCAGGGCAGATGAATCAAGCAGGCGTGGTGAGGAGTCACTGTTGCATCGCTCGGGGTGAGGACTGCTCCCACTTTTGCCCCTGTACATTTTAGCCTCACGTGAACTTTTTAACCTTAGGTCAAAGGCAAAGTGGACCCCCTCAGAGGGCAGGCTGGGCCTCCAGGACTGCTACGGACCCTTCCAAGGAAACGTGTTGTAGGACAGGGGCCAGCCCAAGGGCCTCACCACAGCCTTCTTCAGCTCAGCGGTCATGCGGTCCTGCCAGGCGAAGCACAGGATGTGTGGCAGGTAGAGGGTGAAATAGATGACACCACTACAGGCTGCTGCCAGACTGGCCTTGGAGAAGAAGGTGCTGAGCAGAAAGCACAGCATGATGGTGGCAGTGGAGAAAGCCAACAAGAACAGGAAGAGGATGAATGGGTCGCTGTAATGTAGGATTCTTCCATGCTGAAACCAAGAGGCCATGCGTCAGTAACTCCTGCCCTTGGCCGGACGCCTTCTCATTCTGCCCTAAAGGGCTCTCTCCCACCAGCCTGCAGTTAGTGTCTAAATTTCTACGCACACTCCATGTGCTGAGTTCCTTTAATCCTAGGAATGCCATTTTCCCTGGGAGGAGTAGCACATTAGACTCCTAACAGTCATCAGTAATGTTAAAAAAATTAATTGGGAGACCATTAGGTTGAAACGGCCCCAGCATTCTGTGTTCCTACATCAGCAAACCAAAACCCAACTTAGAGAAACTTAACTAATCACAAACTGCCCACTAACCTGTAATCAGGGACTTTCCACTTGAACCAATCAAATATTTGCTTTGTTTTTCTTTGTCTTGCTTCCCTACCCCTCAGTGGGGCCCTGAACCACTTGTGATCTGGAGCCTCCTGTGAATCACTGTTTGCTGGAATCAACTCTAACATTTTAATGTGCCTAAGTTTCTCTTTTAATAGTATTTATTATGTGTTAAGTAAGCAAATCCTCGGTGAGAAGAG
Task1_train_1283
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; Isolated macular dystrophy
GGAGCAGAGGAACATGGAGGAGTAGGGAAAATCGTAAGATGAAGAAGAGAGTTGGAGGCCGGATAATGAAGCAGCTTGGAGGCCAGGGTTGAGACACTGGGTTTTACTCTGAAAGAGAGGAAAAGCCAGTGCAAGCATTTGACAGAGAGGGCTGACACCACATGACCTTGATTCTGAAAGGATCTCCCTGAATACAGTGTGCAGAATGGACTGATGGGAGGTGGTAGTGGAAGGAAGAGACTGGCATTGGGAAGGTTGTGGTGGAGGTGGTGACAAGAGATCAGATTCTGGATTTGTTTCTCAAGTAGAGCCAGTAGGATTTGCTGGTGGATTTTTAACTTCTAGATTTAAACTTCAAATGCTGGTTCTGACAAAGAGCTTGGAAGAAATGAAATTTAAACTAGATGAATGGAGAGGGCTGGGGATCTGAAGAACTCAATTACCTTTACCCTATAGAGGAGGATGCTTACCTGGAAACACCTGATCAAGGTACCAAGCGAGTAAGCCATAGACAGCAGCATCAAGGAGCATCATCTGCATGGACAGCAGGAAGCTGAATTCGTCCCCTTCCGTGGGACTGTTCCCGATGTTGCTCCACTGCAGCCCCAGGCCTTGCTCTTCAAAGCGAACCAGGTACTCAGTGCCAAATCCAAATGCCACCGGAGACAGTAAGCTCTGCAGTGAGGCGGAGAGGGCACAGAAAAAGAGCAGTGCCTTTTATCCAATGCAACAGCACCCAGATGCCCTCGAGGTAGAGGGGAGGGCCAAAAGAGGGTCCCCATTGTCTCTCAGTGTAAGGTCAGCTCAGGAGGGTGAAGGCAGTCTTTCCCTTGACGGCCAGGGGGAGTTCAGAGTGTCTCTCTGCAAACAAGAGAGTCTCTAGCTATACAGTCACAAAAAACATGAAACAATTCTCAGCCCAGCCCTAATCCACAGTTGCTAGACCTATAGCTTCCTAGTGATCTATGTACCCAAGAAGATGGCCTCAAATTCCATCTGCCTACTCAAGGATTACCAAAATAGCCCAACTCTGCCCACAGATGAGTCATAAGGATTTCTTGCCACTTATCCATTGTGATCATTTTAGAAAATTGGGTACTACAAATGGCAGCAATTGATTTCTTATTTAACCTAAGAAATGAAAGGCAGATGCCCTGACACCTCTGGAGCCTAATAAGTGTGAGTCGTGAGAACAAGTCAGACTTTCTGTCTTTTCCCAGTGAGGGCAGGTGGTTGTCCCTTCTTGACTCTACAGCACAGAGACAGGGAGACTCCGGAGGACAAGGGGAACTGCACCCTCCAGGGCCAGAGGCTGATTAGAGGGTGGAAATGGCCCATTTGAAAACAATTAGAGAAAAGACAGTGCTCTTTGTCTGGGTCTGGGAATTGTGAACTAGGAAGTTTCTCAGGCCATCAGAAGTCAGCTTCGGGAGTCCTCTCCTGGCCAGCGAGCCTGACTCTGTGGACAGTCTCATTTCTGCACTTCTTTCTGCAAACATTGGTAGAGCATGTTAAAGATACTTGTGGAAATACTCCAATTCAAGTTTTTTTGAAGCAAAACAAAAACCTTTAATTAATGGAAACATCTCTTTAGACAGATAGTAAAGTGGCAAGCTCCCTCCCTTCTGATTCTTCTCAAAGAGTAGGAAAGGAAAACTAGTGAAATGGGCTGCTGGCTCTCTCTTGTGAGTAAATAAAGGGACCCATGAGTTGAACTGGTTTTTTAATGACTTTCCAGGGCAGATGAATCAAGCAGGCGTGGTGAGGAGTCACTGTTGCATCGCTCGGGGTGAGGACTGCTCCCACTTTTGCCCCTGTACATTTTAGCCTCACGTGAACTTTTTAACCTTAGGTCAAAGGCAAAGTGGACCCCCTCAGAGGGCAGGCTGGGCCTCCAGGACTGCTACGGACCCTTCCAAGGAAACGTGTTGTAGGACAGGGGCCAGCCCAAGGGCCTCACCACAGCCTTCTTCAGCTCAGCGGTCATGCGGTCCTGCCAGGCGAAGCACAGGATGTGTGGCAGGTAGAGGGTGAAATAGATGACACCACTACAGGCTGCTGCCAGACTGGCCTTGGAGAAGAAGGTGCTGAGCAGAAAGCACAGCATGATGGTGGCAGTGGAGAAAGCCAACAAGAACAGGAAGAGGATGAATGGGTCGCTGTAATGTAGGATTCTTCCATGCTGAAACCAAGAGGCCATGCGTCAGTAACTCCTGCCCTTGGCCGGACGCCTTCTCATTCTGCCCTAAAGGGCTCTCTCCCACCAGCCTGCAGTTAGTGTCTAAATTTCTACGCACACTCCATGTGCTGAGTTCCTTTAATCCTAGGAATGCCATTTTCCCTGGGAGGAGTAGCACATTAGACTCCTAACAGTCATCAGTAATGTTAAAAAAATTAATTGGGAGACCATTAGGTTGAAACGGCCCCAGCATTCTGTGTTCCTACATCAGCAAACCAAAACCCAACTTAGAGAAACTTAACTAATCACAAACTGCCCACTAACCTGTAATCAGGGACTTTCCACTTGAACCAATCAAATATTTGCTTTGTTTTTCTTTGTCTTGCTTCCCTACCCCTCAGTGGGGCCCTGAACCACTTGTGATCTGGAGCCTCCTGTGAATCACTGTTTGCTGGAATCAACTCTAACATTTTAATGTGCCTAAGTTTCTCTTTTAATAGTATTTATTATGTGTTAAGTAAGCAAATCCTCGGTGAGAAGAGTGGTAATATGGAGAAATATAGCTGGGACAAGGGAGGAAGACCTGGGTAGGGGGTCTTGGAGCATCTCCAGGGCCCTGGATAAACCAGGTATATGGAAAACAAAAGAGGGAGATGGGAGGGAACTCCAGAGGAGCTTCAACATTTTGCCTGGGGCCTGGCCTGTCCTATGCCGTCATCTATACTTGATTTTCTGAGGTTTGCTACCCACACAGGTGAAAATACCAGTAATTAATCCAAATCACTTGGAAGTGGATTGATCCTCCCCATCCATGAATATCACACAAATATATTTCCTAGAACCTGCTGGCAGTACTCAGTAACTTTCACATTAACCAATGAATCAATCACTTTGGCTATGTAGAAAATAGGACCAAACTAGCAACTTTTGCTAGGGGAACTGCTATCCAATTACACTATAGGATAAACTGAGATTGTCAAAGGTATTAGACCTTCTTGGTTATCTTTTGCTGGAGGCATCCTATGAGGCACTTTACTCTCTGAACACGTAAATGAGTACATAGAATTCATCCTGTGCTCTTCCCAGGAACATAAAGGAACAAATAGGTCCATGTCCTAAATGAGTTCTGATCAGTTGGCAGTAGTTCCCTGGAGCTCTGGCTTCCTCTCATAGAAAAGAGACCAATGAGCTGTATCTGTGATGGGCATGCGAGAGCTGAGTGGAACGAATGTGCCATTTGTCTGCTGTGGCTGCCATTTCTCCTTTCTGCTCTCCTGCCTGTGGGTACTGACAGAACAGACTGAAGAACAGATAAAACAAATGGCAAAGGGGAGCGGGGCACAGAAGAGACCCACGCTTAACTGGAACCCAAATTTGAGGAAATCTAAATAAAAGTCTAAATTAGGACTCAGAGCTCCTGATTTTGTGTGTCACCCACACGCAGCTCCATAAAAGCAAGTCCATGGCTGAACATGTGGGTTTTGGATGGAATCACTTTAAGGTAGTTGTTGCAGTTCTCAGAAGAATGAAATCAATTTCTTTTTTATTTATTTATTTTTTTAGACAGAGTCTTGCTCTGTTGCCCAGGCTAGAGTGCAGTGATATGATATCAGCTCACTGAGACCTCCACCTCCTGGGTTCAAGGGATTCTCCTTGCTCAGTCTCCTGAGTAGCCGGGACTACAGGCATGTGCCACCGCACCTGGCTAATTTTTGTATTTTTAGGAGAGGCAGGGTTTCGCCATGTTGGCCAGACTGCTCTGGAACTCCTGACCTGAAGTGATCCACCTGCCTCTGTCTCCCAAAGTATTAGGGTTACAGGCGTGAGCCACCACGCCCAGCCTGAAATCAATTTCTTATCCTTGCTCAAAACAAAGTCCCATAAACTTTTAGGACTTCTAGGACCACAAACTTCTAG
GGAGCAGAGGAACATGGAGGAGTAGGGAAAATCGTAAGATGAAGAAGAGAGTTGGAGGCCGGATAATGAAGCAGCTTGGAGGCCAGGGTTGAGACACTGGGTTTTACTCTGAAAGAGAGGAAAAGCCAGTGCAAGCATTTGACAGAGAGGGCTGACACCACATGACCTTGATTCTGAAAGGATCTCCCTGAATACAGTGTGCAGAATGGACTGATGGGAGGTGGTAGTGGAAGGAAGAGACTGGCATTGGGAAGGTTGTGGTGGAGGTGGTGACAAGAGATCAGATTCTGGATTTGTTTCTCAAGTAGAGCCAGTAGGATTTGCTGGTGGATTTTTAACTTCTAGATTTAAACTTCAAATGCTGGTTCTGACAAAGAGCTTGGAAGAAATGAAATTTAAACTAGATGAATGGAGAGGGCTGGGGATCTGAAGAACTCAATTACCTTTACCCTATAGAGGAGGATGCTTACCTGGAAACACCTGATCAAGGTACCAAGCGAGTAAGCCATAGACAGCAGCATCAAGGAGCATCATCTGCATGGACAGCAGGAAGCTGAATTCGTCCCCTTCCGTGGGACTGTTCCCGATGTTGCTCCACTGCAGCCCCAGGCCTTGCTCTTCAAAGCGAACCAGGTACTCAGTGCCAAATCCAAATGCCACCGGAGACAGTAAGCTCTGCAGTGAGGCGGAGAGGGCACAGAAAAAGAGCAGTGCCTTTTATCCAATGCAACAGCACCCAGATGCCCTCGAGGTAGAGGGGAGGGCCAAAAGAGGGTCCCCATTGTCTCTCAGTGTAAGGTCAGCTCAGGAGGGTGAAGGCAGTCTTTCCCTTGACGGCCAGGGGGAGTTCAGAGTGTCTCTCTGCAAACAAGAGAGTCTCTAGCTATACAGTCACAAAAAACATGAAACAATTCTCAGCCCAGCCCTAATCCACAGTTGCTAGACCTATAGCTTCCTAGTGATCTATGTACCCAAGAAGATGGCCTCAAATTCCATCTGCCTACTCAAGGATTACCAAAATAGCCCAACTCTGCCCACAGATGAGTCATAAGGATTTCTTGCCACTTATCCATTGTGATCATTTTAGAAAATTGGGTACTACAAATGGCAGCAATTGATTTCTTATTTAACCTAAGAAATGAAAGGCAGATGCCCTGACACCTCTGGAGCCTAATAAGTGTGAGTCGTGAGAACAAGTCAGACTTTCTGTCTTTTCCCAGTGAGGGCAGGTGGTTGTCCCTTCTTGACTCTACAGCACAGAGACAGGGAGACTCCGGAGGACAAGGGGAACTGCACCCTCCAGGGCCAGAGGCTGATTAGAGGGTGGAAATGGCCCATTTGAAAACAATTAGAGAAAAGACAGTGCTCTTTGTCTGGGTCTGGGAATTGTGAACTAGGAAGTTTCTCAGGCCATCAGAAGTCAGCTTCGGGAGTCCTCTCCTGGCCAGCGAGCCTGACTCTGTGGACAGTCTCATTTCTGCACTTCTTTCTGCAAACATTGGTAGAGCATGTTAAAGATACTTGTGGAAATACTCCAATTCAAGTTTTTTTGAAGCAAAACAAAAACCTTTAATTAATGGAAACATCTCTTTAGACAGATAGTAAAGTGGCAAGCTCCCTCCCTTCTGATTCTTCTCAAAGAGTAGGAAAGGAAAACTAGTGAAATGGGCTGCTGGCTCTCTCTTGTGAGTAAATAAAGGGACCCATGAGTTGAACTGGTTTTTTAATGACTTTCCAGGGCAGATGAATCAAGCAGGCGTGGTGAGGAGTCACTGTTGCATCGCTCGGGGTGAGGACTGCTCCCACTTTTGCCCCTGTACATTTTAGCCTCACGTGAACTTTTTAACCTTAGGTCAAAGGCAAAGTGGACCCCCTCAGAGGGCAGGCTGGGCCTCCAGGACTGCTACGGACCCTTCCAAGGAAACGTGTTGTAGGACAGGGGCCAGCCCAAGGGCCTCACCACAGCCTTCTTCAGCTCAGCGGTCATGCGGTCCTGCCAGGCGAAGCACAGGATGTGTGGCAGGTAGAGGGTGAAATAGATGACACCAGTACAGGCTGCTGCCAGACTGGCCTTGGAGAAGAAGGTGCTGAGCAGAAAGCACAGCATGATGGTGGCAGTGGAGAAAGCCAACAAGAACAGGAAGAGGATGAATGGGTCGCTGTAATGTAGGATTCTTCCATGCTGAAACCAAGAGGCCATGCGTCAGTAACTCCTGCCCTTGGCCGGACGCCTTCTCATTCTGCCCTAAAGGGCTCTCTCCCACCAGCCTGCAGTTAGTGTCTAAATTTCTACGCACACTCCATGTGCTGAGTTCCTTTAATCCTAGGAATGCCATTTTCCCTGGGAGGAGTAGCACATTAGACTCCTAACAGTCATCAGTAATGTTAAAAAAATTAATTGGGAGACCATTAGGTTGAAACGGCCCCAGCATTCTGTGTTCCTACATCAGCAAACCAAAACCCAACTTAGAGAAACTTAACTAATCACAAACTGCCCACTAACCTGTAATCAGGGACTTTCCACTTGAACCAATCAAATATTTGCTTTGTTTTTCTTTGTCTTGCTTCCCTACCCCTCAGTGGGGCCCTGAACCACTTGTGATCTGGAGCCTCCTGTGAATCACTGTTTGCTGGAATCAACTCTAACATTTTAATGTGCCTAAGTTTCTCTTTTAATAGTATTTATTATGTGTTAAGTAAGCAAATCCTCGGTGAGAAGAGTGGTAATATGGAGAAATATAGCTGGGACAAGGGAGGAAGACCTGGGTAGGGGGTCTTGGAGCATCTCCAGGGCCCTGGATAAACCAGGTATATGGAAAACAAAAGAGGGAGATGGGAGGGAACTCCAGAGGAGCTTCAACATTTTGCCTGGGGCCTGGCCTGTCCTATGCCGTCATCTATACTTGATTTTCTGAGGTTTGCTACCCACACAGGTGAAAATACCAGTAATTAATCCAAATCACTTGGAAGTGGATTGATCCTCCCCATCCATGAATATCACACAAATATATTTCCTAGAACCTGCTGGCAGTACTCAGTAACTTTCACATTAACCAATGAATCAATCACTTTGGCTATGTAGAAAATAGGACCAAACTAGCAACTTTTGCTAGGGGAACTGCTATCCAATTACACTATAGGATAAACTGAGATTGTCAAAGGTATTAGACCTTCTTGGTTATCTTTTGCTGGAGGCATCCTATGAGGCACTTTACTCTCTGAACACGTAAATGAGTACATAGAATTCATCCTGTGCTCTTCCCAGGAACATAAAGGAACAAATAGGTCCATGTCCTAAATGAGTTCTGATCAGTTGGCAGTAGTTCCCTGGAGCTCTGGCTTCCTCTCATAGAAAAGAGACCAATGAGCTGTATCTGTGATGGGCATGCGAGAGCTGAGTGGAACGAATGTGCCATTTGTCTGCTGTGGCTGCCATTTCTCCTTTCTGCTCTCCTGCCTGTGGGTACTGACAGAACAGACTGAAGAACAGATAAAACAAATGGCAAAGGGGAGCGGGGCACAGAAGAGACCCACGCTTAACTGGAACCCAAATTTGAGGAAATCTAAATAAAAGTCTAAATTAGGACTCAGAGCTCCTGATTTTGTGTGTCACCCACACGCAGCTCCATAAAAGCAAGTCCATGGCTGAACATGTGGGTTTTGGATGGAATCACTTTAAGGTAGTTGTTGCAGTTCTCAGAAGAATGAAATCAATTTCTTTTTTATTTATTTATTTTTTTAGACAGAGTCTTGCTCTGTTGCCCAGGCTAGAGTGCAGTGATATGATATCAGCTCACTGAGACCTCCACCTCCTGGGTTCAAGGGATTCTCCTTGCTCAGTCTCCTGAGTAGCCGGGACTACAGGCATGTGCCACCGCACCTGGCTAATTTTTGTATTTTTAGGAGAGGCAGGGTTTCGCCATGTTGGCCAGACTGCTCTGGAACTCCTGACCTGAAGTGATCCACCTGCCTCTGTCTCCCAAAGTATTAGGGTTACAGGCGTGAGCCACCACGCCCAGCCTGAAATCAATTTCTTATCCTTGCTCAAAACAAAGTCCCATAAACTTTTAGGACTTCTAGGACCACAAACTTCTAG
Task1_train_1284
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.
Pathogenic; not provided
GGAGCAGAGGAACATGGAGGAGTAGGGAAAATCGTAAGATGAAGAAGAGAGTTGGAGGCCGGATAATGAAGCAGCTTGGAGGCCAGGGTTGAGACACTGGGTTTTACTCTGAAAGAGAGGAAAAGCCAGTGCAAGCATTTGACAGAGAGGGCTGACACCACATGACCTTGATTCTGAAAGGATCTCCCTGAATACAGTGTGCAGAATGGACTGATGGGAGGTGGTAGTGGAAGGAAGAGACTGGCATTGGGAAGGTTGTGGTGGAGGTGGTGACAAGAGATCAGATTCTGGATTTGTTTCTCAAGTAGAGCCAGTAGGATTTGCTGGTGGATTTTTAACTTCTAGATTTAAACTTCAAATGCTGGTTCTGACAAAGAGCTTGGAAGAAATGAAATTTAAACTAGATGAATGGAGAGGGCTGGGGATCTGAAGAACTCAATTACCTTTACCCTATAGAGGAGGATGCTTACCTGGAAACACCTGATCAAGGTACCAAGCGAGTAAGCCATAGACAGCAGCATCAAGGAGCATCATCTGCATGGACAGCAGGAAGCTGAATTCGTCCCCTTCCGTGGGACTGTTCCCGATGTTGCTCCACTGCAGCCCCAGGCCTTGCTCTTCAAAGCGAACCAGGTACTCAGTGCCAAATCCAAATGCCACCGGAGACAGTAAGCTCTGCAGTGAGGCGGAGAGGGCACAGAAAAAGAGCAGTGCCTTTTATCCAATGCAACAGCACCCAGATGCCCTCGAGGTAGAGGGGAGGGCCAAAAGAGGGTCCCCATTGTCTCTCAGTGTAAGGTCAGCTCAGGAGGGTGAAGGCAGTCTTTCCCTTGACGGCCAGGGGGAGTTCAGAGTGTCTCTCTGCAAACAAGAGAGTCTCTAGCTATACAGTCACAAAAAACATGAAACAATTCTCAGCCCAGCCCTAATCCACAGTTGCTAGACCTATAGCTTCCTAGTGATCTATGTACCCAAGAAGATGGCCTCAAATTCCATCTGCCTACTCAAGGATTACCAAAATAGCCCAACTCTGCCCACAGATGAGTCATAAGGATTTCTTGCCACTTATCCATTGTGATCATTTTAGAAAATTGGGTACTACAAATGGCAGCAATTGATTTCTTATTTAACCTAAGAAATGAAAGGCAGATGCCCTGACACCTCTGGAGCCTAATAAGTGTGAGTCGTGAGAACAAGTCAGACTTTCTGTCTTTTCCCAGTGAGGGCAGGTGGTTGTCCCTTCTTGACTCTACAGCACAGAGACAGGGAGACTCCGGAGGACAAGGGGAACTGCACCCTCCAGGGCCAGAGGCTGATTAGAGGGTGGAAATGGCCCATTTGAAAACAATTAGAGAAAAGACAGTGCTCTTTGTCTGGGTCTGGGAATTGTGAACTAGGAAGTTTCTCAGGCCATCAGAAGTCAGCTTCGGGAGTCCTCTCCTGGCCAGCGAGCCTGACTCTGTGGACAGTCTCATTTCTGCACTTCTTTCTGCAAACATTGGTAGAGCATGTTAAAGATACTTGTGGAAATACTCCAATTCAAGTTTTTTTGAAGCAAAACAAAAACCTTTAATTAATGGAAACATCTCTTTAGACAGATAGTAAAGTGGCAAGCTCCCTCCCTTCTGATTCTTCTCAAAGAGTAGGAAAGGAAAACTAGTGAAATGGGCTGCTGGCTCTCTCTTGTGAGTAAATAAAGGGACCCATGAGTTGAACTGGTTTTTTAATGACTTTCCAGGGCAGATGAATCAAGCAGGCGTGGTGAGGAGTCACTGTTGCATCGCTCGGGGTGAGGACTGCTCCCACTTTTGCCCCTGTACATTTTAGCCTCACGTGAACTTTTTAACCTTAGGTCAAAGGCAAAGTGGACCCCCTCAGAGGGCAGGCTGGGCCTCCAGGACTGCTACGGACCCTTCCAAGGAAACGTGTTGTAGGACAGGGGCCAGCCCAAGGGCCTCACCACAGCCTTCTTCAGCTCAGCGGTCATGCGGTCCTGCCAGGCGAAGCACAGGATGTGTGGCAGGTAGAGGGTGAAATAGATGACACCACTACAGGCTGCTGCCAGACTGGCCTTGGAGAAGAAGGTGCTGAGCAGAAAGCACAGCATGATGGTGGCAGTGGAGAAAGCCAACAAGAACAGGAAGAGGATGAATGGGTCGCTGTAATGTAGGATTCTTCCATGCTGAAACCAAGAGGCCATGCGTCAGTAACTCCTGCCCTTGGCCGGACGCCTTCTCATTCTGCCCTAAAGGGCTCTCTCCCACCAGCCTGCAGTTAGTGTCTAAATTTCTACGCACACTCCATGTGCTGAGTTCCTTTAATCCTAGGAATGCCATTTTCCCTGGGAGGAGTAGCACATTAGACTCCTAACAGTCATCAGTAATGTTAAAAAAATTAATTGGGAGACCATTAGGTTGAAACGGCCCCAGCATTCTGTGTTCCTACATCAGCAAACCAAAACCCAACTTAGAGAAACTTAACTAATCACAAACTGCCCACTAACCTGTAATCAGGGACTTTCCACTTGAACCAATCAAATATTTGCTTTGTTTTTCTTTGTCTTGCTTCCCTACCCCTCAGTGGGGCCCTGAACCACTTGTGATCTGGAGCCTCCTGTGAATCACTGTTTGCTGGAATCAACTCTAACATTTTAATGTGCCTAAGTTTCTCTTTTAATAGTATTTATTATGTGTTAAGTAAGCAAATCCTCGGTGAGAAGAGTGGTAATATGGAGAAATATAGCTGGGACAAGGGAGGAAGACCTGGGTAGGGGGTCTTGGAGCATCTCCAGGGCCCTGGATAAACCAGGTATATGGAAAACAAAAGAGGGAGATGGGAGGGAACTCCAGAGGAGCTTCAACATTTTGCCTGGGGCCTGGCCTGTCCTATGCCGTCATCTATACTTGATTTTCTGAGGTTTGCTACCCACACAGGTGAAAATACCAGTAATTAATCCAAATCACTTGGAAGTGGATTGATCCTCCCCATCCATGAATATCACACAAATATATTTCCTAGAACCTGCTGGCAGTACTCAGTAACTTTCACATTAACCAATGAATCAATCACTTTGGCTATGTAGAAAATAGGACCAAACTAGCAACTTTTGCTAGGGGAACTGCTATCCAATTACACTATAGGATAAACTGAGATTGTCAAAGGTATTAGACCTTCTTGGTTATCTTTTGCTGGAGGCATCCTATGAGGCACTTTACTCTCTGAACACGTAAATGAGTACATAGAATTCATCCTGTGCTCTTCCCAGGAACATAAAGGAACAAATAGGTCCATGTCCTAAATGAGTTCTGATCAGTTGGCAGTAGTTCCCTGGAGCTCTGGCTTCCTCTCATAGAAAAGAGACCAATGAGCTGTATCTGTGATGGGCATGCGAGAGCTGAGTGGAACGAATGTGCCATTTGTCTGCTGTGGCTGCCATTTCTCCTTTCTGCTCTCCTGCCTGTGGGTACTGACAGAACAGACTGAAGAACAGATAAAACAAATGGCAAAGGGGAGCGGGGCACAGAAGAGACCCACGCTTAACTGGAACCCAAATTTGAGGAAATCTAAATAAAAGTCTAAATTAGGACTCAGAGCTCCTGATTTTGTGTGTCACCCACACGCAGCTCCATAAAAGCAAGTCCATGGCTGAACATGTGGGTTTTGGATGGAATCACTTTAAGGTAGTTGTTGCAGTTCTCAGAAGAATGAAATCAATTTCTTTTTTATTTATTTATTTTTTTAGACAGAGTCTTGCTCTGTTGCCCAGGCTAGAGTGCAGTGATATGATATCAGCTCACTGAGACCTCCACCTCCTGGGTTCAAGGGATTCTCCTTGCTCAGTCTCCTGAGTAGCCGGGACTACAGGCATGTGCCACCGCACCTGGCTAATTTTTGTATTTTTAGGAGAGGCAGGGTTTCGCCATGTTGGCCAGACTGCTCTGGAACTCCTGACCTGAAGTGATCCACCTGCCTCTGTCTCCCAAAGTATTAGGGTTACAGGCGTGAGCCACCACGCCCAGCCTGAAATCAATTTCTTATCCTTGCTCAAAACAAAGTCCCATAAACTTTTAGGACTTCTAGGACCACAAACTTCTAG
GGAGCAGAGGAACATGGAGGAGTAGGGAAAATCGTAAGATGAAGAAGAGAGTTGGAGGCCGGATAATGAAGCAGCTTGGAGGCCAGGGTTGAGACACTGGGTTTTACTCTGAAAGAGAGGAAAAGCCAGTGCAAGCATTTGACAGAGAGGGCTGACACCACATGACCTTGATTCTGAAAGGATCTCCCTGAATACAGTGTGCAGAATGGACTGATGGGAGGTGGTAGTGGAAGGAAGAGACTGGCATTGGGAAGGTTGTGGTGGAGGTGGTGACAAGAGATCAGATTCTGGATTTGTTTCTCAAGTAGAGCCAGTAGGATTTGCTGGTGGATTTTTAACTTCTAGATTTAAACTTCAAATGCTGGTTCTGACAAAGAGCTTGGAAGAAATGAAATTTAAACTAGATGAATGGAGAGGGCTGGGGATCTGAAGAACTCAATTACCTTTACCCTATAGAGGAGGATGCTTACCTGGAAACACCTGATCAAGGTACCAAGCGAGTAAGCCATAGACAGCAGCATCAAGGAGCATCATCTGCATGGACAGCAGGAAGCTGAATTCGTCCCCTTCCGTGGGACTGTTCCCGATGTTGCTCCACTGCAGCCCCAGGCCTTGCTCTTCAAAGCGAACCAGGTACTCAGTGCCAAATCCAAATGCCACCGGAGACAGTAAGCTCTGCAGTGAGGCGGAGAGGGCACAGAAAAAGAGCAGTGCCTTTTATCCAATGCAACAGCACCCAGATGCCCTCGAGGTAGAGGGGAGGGCCAAAAGAGGGTCCCCATTGTCTCTCAGTGTAAGGTCAGCTCAGGAGGGTGAAGGCAGTCTTTCCCTTGACGGCCAGGGGGAGTTCAGAGTGTCTCTCTGCAAACAAGAGAGTCTCTAGCTATACAGTCACAAAAAACATGAAACAATTCTCAGCCCAGCCCTAATCCACAGTTGCTAGACCTATAGCTTCCTAGTGATCTATGTACCCAAGAAGATGGCCTCAAATTCCATCTGCCTACTCAAGGATTACCAAAATAGCCCAACTCTGCCCACAGATGAGTCATAAGGATTTCTTGCCACTTATCCATTGTGATCATTTTAGAAAATTGGGTACTACAAATGGCAGCAATTGATTTCTTATTTAACCTAAGAAATGAAAGGCAGATGCCCTGACACCTCTGGAGCCTAATAAGTGTGAGTCGTGAGAACAAGTCAGACTTTCTGTCTTTTCCCAGTGAGGGCAGGTGGTTGTCCCTTCTTGACTCTACAGCACAGAGACAGGGAGACTCCGGAGGACAAGGGGAACTGCACCCTCCAGGGCCAGAGGCTGATTAGAGGGTGGAAATGGCCCATTTGAAAACAATTAGAGAAAAGACAGTGCTCTTTGTCTGGGTCTGGGAATTGTGAACTAGGAAGTTTCTCAGGCCATCAGAAGTCAGCTTCGGGAGTCCTCTCCTGGCCAGCGAGCCTGACTCTGTGGACAGTCTCATTTCTGCACTTCTTTCTGCAAACATTGGTAGAGCATGTTAAAGATACTTGTGGAAATACTCCAATTCAAGTTTTTTTGAAGCAAAACAAAAACCTTTAATTAATGGAAACATCTCTTTAGACAGATAGTAAAGTGGCAAGCTCCCTCCCTTCTGATTCTTCTCAAAGAGTAGGAAAGGAAAACTAGTGAAATGGGCTGCTGGCTCTCTCTTGTGAGTAAATAAAGGGACCCATGAGTTGAACTGGTTTTTTAATGACTTTCCAGGGCAGATGAATCAAGCAGGCGTGGTGAGGAGTCACTGTTGCATCGCTCGGGGTGAGGACTGCTCCCACTTTTGCCCCTGTACATTTTAGCCTCACGTGAACTTTTTAACCTTAGGTCAAAGGCAAAGTGGACCCCCTCAGAGGGCAGGCTGGGCCTCCAGGACTGCTACGGACCCTTCCAAGGAAACGTGTTGTAGGACAGGGGCCAGCCCAAGGGCCTCACCACAGCCTTCTTCAGCTCAGCGGTCATGCGGTCCTGCCAGGCGAAGCACAGGATGTGTGGCAGGTAGAGGGTGAAATAGATGACACCATTACAGGCTGCTGCCAGACTGGCCTTGGAGAAGAAGGTGCTGAGCAGAAAGCACAGCATGATGGTGGCAGTGGAGAAAGCCAACAAGAACAGGAAGAGGATGAATGGGTCGCTGTAATGTAGGATTCTTCCATGCTGAAACCAAGAGGCCATGCGTCAGTAACTCCTGCCCTTGGCCGGACGCCTTCTCATTCTGCCCTAAAGGGCTCTCTCCCACCAGCCTGCAGTTAGTGTCTAAATTTCTACGCACACTCCATGTGCTGAGTTCCTTTAATCCTAGGAATGCCATTTTCCCTGGGAGGAGTAGCACATTAGACTCCTAACAGTCATCAGTAATGTTAAAAAAATTAATTGGGAGACCATTAGGTTGAAACGGCCCCAGCATTCTGTGTTCCTACATCAGCAAACCAAAACCCAACTTAGAGAAACTTAACTAATCACAAACTGCCCACTAACCTGTAATCAGGGACTTTCCACTTGAACCAATCAAATATTTGCTTTGTTTTTCTTTGTCTTGCTTCCCTACCCCTCAGTGGGGCCCTGAACCACTTGTGATCTGGAGCCTCCTGTGAATCACTGTTTGCTGGAATCAACTCTAACATTTTAATGTGCCTAAGTTTCTCTTTTAATAGTATTTATTATGTGTTAAGTAAGCAAATCCTCGGTGAGAAGAGTGGTAATATGGAGAAATATAGCTGGGACAAGGGAGGAAGACCTGGGTAGGGGGTCTTGGAGCATCTCCAGGGCCCTGGATAAACCAGGTATATGGAAAACAAAAGAGGGAGATGGGAGGGAACTCCAGAGGAGCTTCAACATTTTGCCTGGGGCCTGGCCTGTCCTATGCCGTCATCTATACTTGATTTTCTGAGGTTTGCTACCCACACAGGTGAAAATACCAGTAATTAATCCAAATCACTTGGAAGTGGATTGATCCTCCCCATCCATGAATATCACACAAATATATTTCCTAGAACCTGCTGGCAGTACTCAGTAACTTTCACATTAACCAATGAATCAATCACTTTGGCTATGTAGAAAATAGGACCAAACTAGCAACTTTTGCTAGGGGAACTGCTATCCAATTACACTATAGGATAAACTGAGATTGTCAAAGGTATTAGACCTTCTTGGTTATCTTTTGCTGGAGGCATCCTATGAGGCACTTTACTCTCTGAACACGTAAATGAGTACATAGAATTCATCCTGTGCTCTTCCCAGGAACATAAAGGAACAAATAGGTCCATGTCCTAAATGAGTTCTGATCAGTTGGCAGTAGTTCCCTGGAGCTCTGGCTTCCTCTCATAGAAAAGAGACCAATGAGCTGTATCTGTGATGGGCATGCGAGAGCTGAGTGGAACGAATGTGCCATTTGTCTGCTGTGGCTGCCATTTCTCCTTTCTGCTCTCCTGCCTGTGGGTACTGACAGAACAGACTGAAGAACAGATAAAACAAATGGCAAAGGGGAGCGGGGCACAGAAGAGACCCACGCTTAACTGGAACCCAAATTTGAGGAAATCTAAATAAAAGTCTAAATTAGGACTCAGAGCTCCTGATTTTGTGTGTCACCCACACGCAGCTCCATAAAAGCAAGTCCATGGCTGAACATGTGGGTTTTGGATGGAATCACTTTAAGGTAGTTGTTGCAGTTCTCAGAAGAATGAAATCAATTTCTTTTTTATTTATTTATTTTTTTAGACAGAGTCTTGCTCTGTTGCCCAGGCTAGAGTGCAGTGATATGATATCAGCTCACTGAGACCTCCACCTCCTGGGTTCAAGGGATTCTCCTTGCTCAGTCTCCTGAGTAGCCGGGACTACAGGCATGTGCCACCGCACCTGGCTAATTTTTGTATTTTTAGGAGAGGCAGGGTTTCGCCATGTTGGCCAGACTGCTCTGGAACTCCTGACCTGAAGTGATCCACCTGCCTCTGTCTCCCAAAGTATTAGGGTTACAGGCGTGAGCCACCACGCCCAGCCTGAAATCAATTTCTTATCCTTGCTCAAAACAAAGTCCCATAAACTTTTAGGACTTCTAGGACCACAAACTTCTAG
Task1_train_1285
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.
Pathogenic; not provided
TGGAACTCCTGACCTGAAGTGATCCACCTGCCTCTGTCTCCCAAAGTATTAGGGTTACAGGCGTGAGCCACCACGCCCAGCCTGAAATCAATTTCTTATCCTTGCTCAAAACAAAGTCCCATAAACTTTTAGGACTTCTAGGACCACAAACTTCTAGGACTTTTCACTGACTTAAGCCAGAGGTGTAATTCACTCTGTGACCCTACAGTTTCACCAGCTGTGGCTTCCTCAGATGGCCACTTTTCTTTTTGTTTCTAATAGCTCGAGTAACAAAGGGACCTTCCCATTGTCCCTGCTTCCAGCTTCTTTCCTGTGTTGTTGAGGTGGGGAGGAAGAGACAAGGGAAAGGTGGGAGAGTCATTCAAAGGAAAACCCTGTTTTGGTATGGAAAGCCCTGTTTCCGTCATCACTGGAACAATGTTCTAGTTCCCACAAAGAGAAACCCTTTTGTGCATGAAACTCCTGGTGAACATTCTTTACCTCACATCGTAAAAGCTTTGAAGACCTAATGGCCCATTCTTAGGAGGGCAGATCTCAATGCTGCTTATCAACAAGCCAGGCAAAATCTCATGGCTGTTGCTAGTCAGATGTTTACACATTTTTACTCCTTTAATTCTGAGGACACAAACATGTTGGTACTGGGAAAAGAAGCAGACTGAGGGATGGGAAAGAACAAGGGAAACCTAGATAAGGACAAGGGGCTCAGCTCCTCCCCTCATCTCTTAGAACTTTGGTGCCCTTTGCAAATGTAAGCCCACATCCAGGTGGGGTCAGGTTGTTTGAGCAGAATGACCTCTACCTTAGCATTTGTCTTGTTAGGACTCTAGCACAGAGCATAACCAAGGCCACAGATCACTGGATCATGGAGCAACATTAAAAAGACAAAACCTTCAGATTTAGTACATTTTACCGTAAGGAGAAAGGGCAAGATTTGGCTTAACTGGAGATGTGTTGTTTGAACAGGATCTGATGGAACATTTGTGGATCAGGTGGGTACCAGATATGGGCCAGCATGGGATGGGAGACACTCAGCCAGTCTGTGGTCACTACACACACTGCCTAGTGTGGTACAGCACTTCCTATCATGATGGGGAAGAAGTAGAACAAGCTCAATCAGTCCATCTCAGGAGCCTGTAAAGCCTGAAGTCTAAAAATTATACCAAATTCCACCCAATAAAATATAAAAAATGACCTAAATTTATATCCTTATCATTTAACAAGTACAAACTATCATCTACGGTGGAGGAGCTAAAAATGAAGGATAGCAGCGCATTGCAAAATAATGTTTCATTTCCAAGTCTAGCTCTCAGAGGAGTTGCAAGTTTGCAGAGGACAGACCAATAGATGCTGCCTGTGGCTATAAAAACTCCTTATCACTGAGGAAGGATGGACTCCAAATTCCATCCTTTAAAAGAGAGAGAGGTGTTGGAGCTTTTTCAGGCAGCAGAATGTTTTTTGGTGAAGCCATGTAGGAGGTGACCATGATGATGATAAGTAAATAATCCAGATCTCCTCCCCTACTGCTACTGAAAAGGCAAAAGGCTTTCCCCATTTCAACTCTAGCCAGTAGTTAAAATTGTAAGCCCAGGAAAACACTCCCTGAACTGATTTTTTCTGTGTTTGGAAAGAGAAGACCACTTTAATTACACTATCACCCTGTGCAGGGCTCTGCTAATAGCAGCTTCTCCAGATGGTCACGGAATGGGACTGGGAAGTCTGTGTGGACCATGGACCCCTGGGCAGGAAGTGGGAGATGGGAGGATGCTGTGATACAGTGGCTCCTTCAGGAGATTTCGTCTCTTTGAGTGTCTCCCACGTTGGCTAAAAGGAAGGGCTGGGAAGCTAGATGTCACGCTCTCCTTGGTGGCCACATGACTAATCCAGGCACATGAACAGGAGGAAAGGGGAAAGGAACCAAAGTATTCAAGATTTTCTGGGCCTTCTCCATTTGGCTTACCATGATGAATATCGTCAGGAGGAAGATGCTCATCGACATGATGGAGAAGCTGTCCAGGAACCAGGTACACCAAATCACTGCATTGGAGACACCCTGATTTTTCAAGGTCTCCTTCAGTCGCAACTCCTTCTCCAAGACGATGCTCTTCACAGTCATGGAGACAGAGTAGATCCATGCCAGCACCATGAAGATAGGGAAACAGCGGTTCAGGATGATCATGAAACTAAAGCAAAAGGAGAGAAGCAGAATAGTAGAGTGCTCTGTACCTGGTAGAGGCAGAATAAATGTTTGTTGAATGAATGTGTTGAGAACAAAGCCCAGATGGAGGGAAAGGAAAACAGGAAAACCTCCCCTGGACATTTAATGGGCTGGAATCTTTTAACACATTCCATGTTAGCCCTGAAGCATTATTTTTTGTTTATAGCAGAGTGCTGGCTTTCTGGTTAGCCCGGGTGAATGCTCTGCAAGTAAAATGTGTCAATAAAATTATATCCTCTATGTCAAAGATCTTCCCTGTAAGGCCTTGCAAGGAAAAAACTGCAGACTTGATGATGTGGATGGGATCTGAGTAGACAGCTACATGCTGACACTGAAACCCAAGAGGGTGGAGGACTGACAAGGGCAAGTGGTGGTGGTAAGAGCAATAACTTGGCTCCCCAAGGGGTCAGCCGCCCCAGCACAGTCTGCCCTGGAAGGTCAAACCCTAGTTACACAAAAAGACACACAAAATAACTAATCAGTTTGGCACTTTCAGAAGGCGAATGATCCATCAATACATCAGTTATCCAACAGCCACTGGACCCACCACCAGCCATGCACAGGTGGAGGAGACCCTGGTATATCCACCTGGCAAACAGGATAGATTTGATACACTGGAACGACTTTCTTGTGAACTTTACACGTTTTCCCTGTGTTTCATGTGCTAGTAAAGCCCTTGGGATTATTATCTATTGAAAACTGTTGTGTGTTGTCACTGAAAGGGCCCAATTCCAGCATGGGAGGGTTTCACTCAAGGTGGCCCTAGGGAGAGAAGCATATGTTCGTAAAGCATGCACTTCTGGGACTAGCCACCAGAGGACTCTCCCATACCAAATGACCCAGCTCCCTATTGCCTCCCCACACCCACCTCACTTCCCCACCAGCCACTCCCGTCCTGATCCTAAAGTGGACCTGGGCTTTCGCCCCTGGCTCCATTTCCCAGCTCTGCCTATTGTCCGAACCCAAACTAACTGCAGACTGGCCACTGTTATCTCAAGTTTTCTGTAGAGCTGAGGCTGGAAAACCCATTGGACAGTTATTAAAAGAGGGTTTCCTGTGTCCACACTGAGTTTTAGGTGAACTCAATTGTAGATCTCTGCTGCTGTTTTGGTAGTGTGTCTGACCCCATCTATAATGACAAATGAGCCTCCCAACCCTCCACCCCGGCCCTTTCTCTACCACCCCCCAAATCCATATTCAGTCAAACAGTAGGCTGCTTGCTTGGCTTATTCCTGGTCAACAGATATACAGGCCTGGGATGGGAGTGTCCAGGGAGGCAGGTCCTGAGCTCATCCAACACATTCCTCTGCCTTGTCATTGAGCATACATCATGGAAATGTTAGTTAGGGAAGGGGCTGCATTATTCCAGGGCTCCCAGGAACCAGACCTACTGGCCATACAGAGTCCAAAATGAATGCTGATGTGGCAATCATTGGGCAAACATTCTGACCAGAACCCTTCCACATACCAAACATACTACATAGTGGGGAATTTGTCCCCTCCCCCAGCCTCACTTTCCTTGCTTTAATTTTCCCCTTCCCTTTTCCAGCTACAACATCAACTCTTTTCCCTTTCCCACCACTGCACTGACTCATCTGTGCCTGCCTGGAGCTTGGGAGAAGCAGGTTCCTCAGTCAGAGCTCCATGCTCTCCAATTTGGCTCTGGTCCCTGGGGCTCTCTCTAAAGACATGGAAGCCTTGAGGGCACCCCCAGCCCACCCCAGCCCACTCCAGCACCCCCATTAGCGTGTCATGGAGGAGGATCGCGAACTTCAGACTCACGAATCGTCCACGAAGCAGGGGTAGGGCATCTGCTGGAGGTAGATTCCAACTGGAGCCTCCGCCTGCACCTGGCTCCTTGTGATCCCCTGTTCAACCATG
TGGAACTCCTGACCTGAAGTGATCCACCTGCCTCTGTCTCCCAAAGTATTAGGGTTACAGGCGTGAGCCACCACGCCCAGCCTGAAATCAATTTCTTATCCTTGCTCAAAACAAAGTCCCATAAACTTTTAGGACTTCTAGGACCACAAACTTCTAGGACTTTTCACTGACTTAAGCCAGAGGTGTAATTCACTCTGTGACCCTACAGTTTCACCAGCTGTGGCTTCCTCAGATGGCCACTTTTCTTTTTGTTTCTAATAGCTCGAGTAACAAAGGGACCTTCCCATTGTCCCTGCTTCCAGCTTCTTTCCTGTGTTGTTGAGGTGGGGAGGAAGAGACAAGGGAAAGGTGGGAGAGTCATTCAAAGGAAAACCCTGTTTTGGTATGGAAAGCCCTGTTTCCGTCATCACTGGAACAATGTTCTAGTTCCCACAAAGAGAAACCCTTTTGTGCATGAAACTCCTGGTGAACATTCTTTACCTCACATCGTAAAAGCTTTGAAGACCTAATGGCCCATTCTTAGGAGGGCAGATCTCAATGCTGCTTATCAACAAGCCAGGCAAAATCTCATGGCTGTTGCTAGTCAGATGTTTACACATTTTTACTCCTTTAATTCTGAGGACACAAACATGTTGGTACTGGGAAAAGAAGCAGACTGAGGGATGGGAAAGAACAAGGGAAACCTAGATAAGGACAAGGGGCTCAGCTCCTCCCCTCATCTCTTAGAACTTTGGTGCCCTTTGCAAATGTAAGCCCACATCCAGGTGGGGTCAGGTTGTTTGAGCAGAATGACCTCTACCTTAGCATTTGTCTTGTTAGGACTCTAGCACAGAGCATAACCAAGGCCACAGATCACTGGATCATGGAGCAACATTAAAAAGACAAAACCTTCAGATTTAGTACATTTTACCGTAAGGAGAAAGGGCAAGATTTGGCTTAACTGGAGATGTGTTGTTTGAACAGGATCTGATGGAACATTTGTGGATCAGGTGGGTACCAGATATGGGCCAGCATGGGATGGGAGACACTCAGCCAGTCTGTGGTCACTACACACACTGCCTAGTGTGGTACAGCACTTCCTATCATGATGGGGAAGAAGTAGAACAAGCTCAATCAGTCCATCTCAGGAGCCTGTAAAGCCTGAAGTCTAAAAATTATACCAAATTCCACCCAATAAAATATAAAAAATGACCTAAATTTATATCCTTATCATTTAACAAGTACAAACTATCATCTACGGTGGAGGAGCTAAAAATGAAGGATAGCAGCGCATTGCAAAATAATGTTTCATTTCCAAGTCTAGCTCTCAGAGGAGTTGCAAGTTTGCAGAGGACAGACCAATAGATGCTGCCTGTGGCTATAAAAACTCCTTATCACTGAGGAAGGATGGACTCCAAATTCCATCCTTTAAAAGAGAGAGAGGTGTTGGAGCTTTTTCAGGCAGCAGAATGTTTTTTGGTGAAGCCATGTAGGAGGTGACCATGATGATGATAAGTAAATAATCCAGATCTCCTCCCCTACTGCTACTGAAAAGGCAAAAGGCTTTCCCCATTTCAACTCTAGCCAGTAGTTAAAATTGTAAGCCCAGGAAAACACTCCCTGAACTGATTTTTTCTGTGTTTGGAAAGAGAAGACCACTTTAATTACACTATCACCCTGTGCAGGGCTCTGCTAATAGCAGCTTCTCCAGATGGTCACGGAATGGGACTGGGAAGTCTGTGTGGACCATGGACCCCTGGGCAGGAAGTGGGAGATGGGAGGATGCTGTGATACAGTGGCTCCTTCAGGAGATTTCGTCTCTTTGAGTGTCTCCCACGTTGGCTAAAAGGAAGGGCTGGGAAGCTAGATGTCACGCTCTCCTTGGTGGCCACATGACTAATCCAGGCACATGAACAGGAGGAAAGGGGAAAGGAACCAAAGTATTCAAGATTTTCTGGGCCTTCTCCATTTGGCTTACCATGATGAATATCGTCAGGAGGAAGATGCTCATCGACATGATGGAGAAGCTGTCCAGGAACCAGGTACACCAAATCACTGCATTGGAGACATCCTGATTTTTCAAGGTCTCCTTCAGTCGCAACTCCTTCTCCAAGACGATGCTCTTCACAGTCATGGAGACAGAGTAGATCCATGCCAGCACCATGAAGATAGGGAAACAGCGGTTCAGGATGATCATGAAACTAAAGCAAAAGGAGAGAAGCAGAATAGTAGAGTGCTCTGTACCTGGTAGAGGCAGAATAAATGTTTGTTGAATGAATGTGTTGAGAACAAAGCCCAGATGGAGGGAAAGGAAAACAGGAAAACCTCCCCTGGACATTTAATGGGCTGGAATCTTTTAACACATTCCATGTTAGCCCTGAAGCATTATTTTTTGTTTATAGCAGAGTGCTGGCTTTCTGGTTAGCCCGGGTGAATGCTCTGCAAGTAAAATGTGTCAATAAAATTATATCCTCTATGTCAAAGATCTTCCCTGTAAGGCCTTGCAAGGAAAAAACTGCAGACTTGATGATGTGGATGGGATCTGAGTAGACAGCTACATGCTGACACTGAAACCCAAGAGGGTGGAGGACTGACAAGGGCAAGTGGTGGTGGTAAGAGCAATAACTTGGCTCCCCAAGGGGTCAGCCGCCCCAGCACAGTCTGCCCTGGAAGGTCAAACCCTAGTTACACAAAAAGACACACAAAATAACTAATCAGTTTGGCACTTTCAGAAGGCGAATGATCCATCAATACATCAGTTATCCAACAGCCACTGGACCCACCACCAGCCATGCACAGGTGGAGGAGACCCTGGTATATCCACCTGGCAAACAGGATAGATTTGATACACTGGAACGACTTTCTTGTGAACTTTACACGTTTTCCCTGTGTTTCATGTGCTAGTAAAGCCCTTGGGATTATTATCTATTGAAAACTGTTGTGTGTTGTCACTGAAAGGGCCCAATTCCAGCATGGGAGGGTTTCACTCAAGGTGGCCCTAGGGAGAGAAGCATATGTTCGTAAAGCATGCACTTCTGGGACTAGCCACCAGAGGACTCTCCCATACCAAATGACCCAGCTCCCTATTGCCTCCCCACACCCACCTCACTTCCCCACCAGCCACTCCCGTCCTGATCCTAAAGTGGACCTGGGCTTTCGCCCCTGGCTCCATTTCCCAGCTCTGCCTATTGTCCGAACCCAAACTAACTGCAGACTGGCCACTGTTATCTCAAGTTTTCTGTAGAGCTGAGGCTGGAAAACCCATTGGACAGTTATTAAAAGAGGGTTTCCTGTGTCCACACTGAGTTTTAGGTGAACTCAATTGTAGATCTCTGCTGCTGTTTTGGTAGTGTGTCTGACCCCATCTATAATGACAAATGAGCCTCCCAACCCTCCACCCCGGCCCTTTCTCTACCACCCCCCAAATCCATATTCAGTCAAACAGTAGGCTGCTTGCTTGGCTTATTCCTGGTCAACAGATATACAGGCCTGGGATGGGAGTGTCCAGGGAGGCAGGTCCTGAGCTCATCCAACACATTCCTCTGCCTTGTCATTGAGCATACATCATGGAAATGTTAGTTAGGGAAGGGGCTGCATTATTCCAGGGCTCCCAGGAACCAGACCTACTGGCCATACAGAGTCCAAAATGAATGCTGATGTGGCAATCATTGGGCAAACATTCTGACCAGAACCCTTCCACATACCAAACATACTACATAGTGGGGAATTTGTCCCCTCCCCCAGCCTCACTTTCCTTGCTTTAATTTTCCCCTTCCCTTTTCCAGCTACAACATCAACTCTTTTCCCTTTCCCACCACTGCACTGACTCATCTGTGCCTGCCTGGAGCTTGGGAGAAGCAGGTTCCTCAGTCAGAGCTCCATGCTCTCCAATTTGGCTCTGGTCCCTGGGGCTCTCTCTAAAGACATGGAAGCCTTGAGGGCACCCCCAGCCCACCCCAGCCCACTCCAGCACCCCCATTAGCGTGTCATGGAGGAGGATCGCGAACTTCAGACTCACGAATCGTCCACGAAGCAGGGGTAGGGCATCTGCTGGAGGTAGATTCCAACTGGAGCCTCCGCCTGCACCTGGCTCCTTGTGATCCCCTGTTCAACCATG
Task1_train_1286
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?
Pathogenic; not provided
TTACCATGATGAATATCGTCAGGAGGAAGATGCTCATCGACATGATGGAGAAGCTGTCCAGGAACCAGGTACACCAAATCACTGCATTGGAGACACCCTGATTTTTCAAGGTCTCCTTCAGTCGCAACTCCTTCTCCAAGACGATGCTCTTCACAGTCATGGAGACAGAGTAGATCCATGCCAGCACCATGAAGATAGGGAAACAGCGGTTCAGGATGATCATGAAACTAAAGCAAAAGGAGAGAAGCAGAATAGTAGAGTGCTCTGTACCTGGTAGAGGCAGAATAAATGTTTGTTGAATGAATGTGTTGAGAACAAAGCCCAGATGGAGGGAAAGGAAAACAGGAAAACCTCCCCTGGACATTTAATGGGCTGGAATCTTTTAACACATTCCATGTTAGCCCTGAAGCATTATTTTTTGTTTATAGCAGAGTGCTGGCTTTCTGGTTAGCCCGGGTGAATGCTCTGCAAGTAAAATGTGTCAATAAAATTATATCCTCTATGTCAAAGATCTTCCCTGTAAGGCCTTGCAAGGAAAAAACTGCAGACTTGATGATGTGGATGGGATCTGAGTAGACAGCTACATGCTGACACTGAAACCCAAGAGGGTGGAGGACTGACAAGGGCAAGTGGTGGTGGTAAGAGCAATAACTTGGCTCCCCAAGGGGTCAGCCGCCCCAGCACAGTCTGCCCTGGAAGGTCAAACCCTAGTTACACAAAAAGACACACAAAATAACTAATCAGTTTGGCACTTTCAGAAGGCGAATGATCCATCAATACATCAGTTATCCAACAGCCACTGGACCCACCACCAGCCATGCACAGGTGGAGGAGACCCTGGTATATCCACCTGGCAAACAGGATAGATTTGATACACTGGAACGACTTTCTTGTGAACTTTACACGTTTTCCCTGTGTTTCATGTGCTAGTAAAGCCCTTGGGATTATTATCTATTGAAAACTGTTGTGTGTTGTCACTGAAAGGGCCCAATTCCAGCATGGGAGGGTTTCACTCAAGGTGGCCCTAGGGAGAGAAGCATATGTTCGTAAAGCATGCACTTCTGGGACTAGCCACCAGAGGACTCTCCCATACCAAATGACCCAGCTCCCTATTGCCTCCCCACACCCACCTCACTTCCCCACCAGCCACTCCCGTCCTGATCCTAAAGTGGACCTGGGCTTTCGCCCCTGGCTCCATTTCCCAGCTCTGCCTATTGTCCGAACCCAAACTAACTGCAGACTGGCCACTGTTATCTCAAGTTTTCTGTAGAGCTGAGGCTGGAAAACCCATTGGACAGTTATTAAAAGAGGGTTTCCTGTGTCCACACTGAGTTTTAGGTGAACTCAATTGTAGATCTCTGCTGCTGTTTTGGTAGTGTGTCTGACCCCATCTATAATGACAAATGAGCCTCCCAACCCTCCACCCCGGCCCTTTCTCTACCACCCCCCAAATCCATATTCAGTCAAACAGTAGGCTGCTTGCTTGGCTTATTCCTGGTCAACAGATATACAGGCCTGGGATGGGAGTGTCCAGGGAGGCAGGTCCTGAGCTCATCCAACACATTCCTCTGCCTTGTCATTGAGCATACATCATGGAAATGTTAGTTAGGGAAGGGGCTGCATTATTCCAGGGCTCCCAGGAACCAGACCTACTGGCCATACAGAGTCCAAAATGAATGCTGATGTGGCAATCATTGGGCAAACATTCTGACCAGAACCCTTCCACATACCAAACATACTACATAGTGGGGAATTTGTCCCCTCCCCCAGCCTCACTTTCCTTGCTTTAATTTTCCCCTTCCCTTTTCCAGCTACAACATCAACTCTTTTCCCTTTCCCACCACTGCACTGACTCATCTGTGCCTGCCTGGAGCTTGGGAGAAGCAGGTTCCTCAGTCAGAGCTCCATGCTCTCCAATTTGGCTCTGGTCCCTGGGGCTCTCTCTAAAGACATGGAAGCCTTGAGGGCACCCCCAGCCCACCCCAGCCCACTCCAGCACCCCCATTAGCGTGTCATGGAGGAGGATCGCGAACTTCAGACTCACGAATCGTCCACGAAGCAGGGGTAGGGCATCTGCTGGAGGTAGATTCCAACTGGAGCCTCCGCCTGCACCTGGCTCCTTGTGATCCCCTGTTCAACCATGTCCTGCAGATAGGCAAACCCGCCCCAGATGTACCGGAAATCTTCCACGGGATCAGCTCTGGGACCAGAATCCCAATACCTGAGAAGACACAGAGGGACAAAGGATGGGAACGGGCTTGGATAGCTCACTCACACCTCCCGACCACAGGGTGACTCGGAACTCATTCTCTTAAAATCTTTCTCCTAAACGCTTCAAAAGGATCCAATTCTATTTCCTAGTCCTCAGTTTAAATCTCAGTTTTGAATATTAGCCACAATGTGACTCTGTAATTGCTTTCATTCAAGGACTCTTTGTTGAGCTTTATAAAATATCTTATTTTTTCTTATTTAACTTAATTTTATTGATTTATGAGTCCAGTCTCAATCCCTTTCTCTCTACCAAATGTAATTTCCCACTGACTTTGGAGAAATGCAGCGAGCCCTTCCTGAAACATCACCTGTCTTTAATCTTATTGGTTTTCTCCACCACGTCTATGTCCATTCGGATCTTATACTTCACGTGGGGTGGTAGAGAGCTGGTCCAGGGATACATGTCAGGGAATACCACTCCGGCCCAGAACATGTTTTCCTCCAGTAGAGAGAGGGCACGTTGGGTGAGCTGAGTTTCATCATTGTAGCTTTCAAACTTATCCAGGACCAAGCACTGCAGAGAGTCACAAAGTTGAGAGAGTGTGAGGAGGACCAACTGCAAAGACTCAACTCTACACACAGAAAGTCACAGGATAAGGGCTGCTGTCCCAGGAAATGGTCAAATGCAAGGAGGCCTATAAACTTAATGTTTGCTTAACTCCAGAGTCTGGTGTTAATTTTTCAACGTGTCCAGATGTAGGGGCGCCAGAGAGCTTGGAAGTGCTGACGTGCTCTTATCCCTGCAGAGCTAGTGAGGACCACACTTTCCAGATGTCCAAGGCTGTCCAAATATGCAAGTCTTCAAAATGACAAAAATACTCCAGGCTTTTACTCTCCAGCATGGGGAGGCGAGGGAGTGGGGTCACACTGGCTACAGCCTGCTTTGAAGATCAGAAAGCCTGACGATTAAAGAGCTTTAAAGAGAGAGAGAAACATTCCTAGCCTTGAACCTTTCTGGCTCTCTCCAAACACACAGGATGGCCAGCTGAGGGAAGAGCAAGGAGGAAGAGAGAAAATAACAGACAGCCAAAATAACTTAGTCAGGGAAATCACTTCCAATTACAATTCTGTGACAAGTAATGCTGGGGGAGGAGGAATTTCTATAATATGCCTCTTTTCTTCTCCTGGAAGAGGAAAAAAAAAAACCATTACCCACAAAAGAGCAGAACTAAGAATGTTTGAAAATTTGAATATGATGGTTGTCCTCCTGTATAGATTTGTTAAAGCACTTATATTGCTATTTGCATCTATTTCCTTTTCTTTAACCTCCTGTTCCTATCATTGTGAGGGCTATTGGTGTCGACATTTCTTTCTTAGCATGTAACTCACAAGAAGTCAGATGGTCTTGTCTTGATTAAGTTGTTCCCTGAATGCATACTGAGAATCTGCAATGTGCCAGAGCCTGGTCGACTCTAGGAATACAAGAAGGAAAGATAAACATCTCTTCCTGAAAGAAAGTTGAGAGCTAATGAGGGAGAGGATTGGAGCAAACCAACAACCATAATGTGGAAGGATCAGGTTCTAATGAAAGCAAGCCCAGTGTATTGGGGAAGCCCAGCGGAGGGACGCAGCTAAGTCTTCCTGGAGGGATCAGGGAAGGCTGCCTGGAGGAAGAGCCTCCTGAGTAGGAGGATAAGCAGGAATTAGCCGAGGAGAGGAAAGTGGGGGAAAGGTCAGCTCAGGCACAGGGAACAGCACATGAGGTATCTGGGGACCTACAAGAATAGATCAGTGGTTCCCATCTGTGGCTGTGCTTTAGAACCACTGCGGAGCTTTAAAAGATACCTATGCCAGGCCCTACCCCAAGCAATTAAATCAGAATCTC
TTACCATGATGAATATCGTCAGGAGGAAGATGCTCATCGACATGATGGAGAAGCTGTCCAGGAACCAGGTACACCAAATCACTGCATTGGAGACACCCTGATTTTTCAAGGTCTCCTTCAGTCGCAACTCCTTCTCCAAGACGATGCTCTTCACAGTCATGGAGACAGAGTAGATCCATGCCAGCACCATGAAGATAGGGAAACAGCGGTTCAGGATGATCATGAAACTAAAGCAAAAGGAGAGAAGCAGAATAGTAGAGTGCTCTGTACCTGGTAGAGGCAGAATAAATGTTTGTTGAATGAATGTGTTGAGAACAAAGCCCAGATGGAGGGAAAGGAAAACAGGAAAACCTCCCCTGGACATTTAATGGGCTGGAATCTTTTAACACATTCCATGTTAGCCCTGAAGCATTATTTTTTGTTTATAGCAGAGTGCTGGCTTTCTGGTTAGCCCGGGTGAATGCTCTGCAAGTAAAATGTGTCAATAAAATTATATCCTCTATGTCAAAGATCTTCCCTGTAAGGCCTTGCAAGGAAAAAACTGCAGACTTGATGATGTGGATGGGATCTGAGTAGACAGCTACATGCTGACACTGAAACCCAAGAGGGTGGAGGACTGACAAGGGCAAGTGGTGGTGGTAAGAGCAATAACTTGGCTCCCCAAGGGGTCAGCCGCCCCAGCACAGTCTGCCCTGGAAGGTCAAACCCTAGTTACACAAAAAGACACACAAAATAACTAATCAGTTTGGCACTTTCAGAAGGCGAATGATCCATCAATACATCAGTTATCCAACAGCCACTGGACCCACCACCAGCCATGCACAGGTGGAGGAGACCCTGGTATATCCACCTGGCAAACAGGATAGATTTGATACACTGGAACGACTTTCTTGTGAACTTTACACGTTTTCCCTGTGTTTCATGTGCTAGTAAAGCCCTTGGGATTATTATCTATTGAAAACTGTTGTGTGTTGTCACTGAAAGGGCCCAATTCCAGCATGGGAGGGTTTCACTCAAGGTGGCCCTAGGGAGAGAAGCATATGTTCGTAAAGCATGCACTTCTGGGACTAGCCACCAGAGGACTCTCCCATACCAAATGACCCAGCTCCCTATTGCCTCCCCACACCCACCTCACTTCCCCACCAGCCACTCCCGTCCTGATCCTAAAGTGGACCTGGGCTTTCGCCCCTGGCTCCATTTCCCAGCTCTGCCTATTGTCCGAACCCAAACTAACTGCAGACTGGCCACTGTTATCTCAAGTTTTCTGTAGAGCTGAGGCTGGAAAACCCATTGGACAGTTATTAAAAGAGGGTTTCCTGTGTCCACACTGAGTTTTAGGTGAACTCAATTGTAGATCTCTGCTGCTGTTTTGGTAGTGTGTCTGACCCCATCTATAATGACAAATGAGCCTCCCAACCCTCCACCCCGGCCCTTTCTCTACCACCCCCCAAATCCATATTCAGTCAAACAGTAGGCTGCTTGCTTGGCTTATTCCTGGTCAACAGATATACAGGCCTGGGATGGGAGTGTCCAGGGAGGCAGGTCCTGAGCTCATCCAACACATTCCTCTGCCTTGTCATTGAGCATACATCATGGAAATGTTAGTTAGGGAAGGGGCTGCATTATTCCAGGGCTCCCAGGAACCAGACCTACTGGCCATACAGAGTCCAAAATGAATGCTGATGTGGCAATCATTGGGCAAACATTCTGACCAGAACCCTTCCACATACCAAACATACTACATAGTGGGGAATTTGTCCCCTCCCCCAGCCTCACTTTCCTTGCTTTAATTTTCCCCTTCCCTTTTCCAGCTACAACATCAACTCTTTTCCCTTTCCCACCACTGCACTGACTCATCTGTGCCTGCCTGGAGCTTGGGAGAAGCAGGTTCCTCAGTCAGAGCTCCATGCTCTCCAATTTGGCTCTGGTCCCTGGGGCTCTCTCTAAAGACATGGAAGCCTTGAGGGCACCCCCAGCCCACCCCAGCCCACTCCAGCACCCCCATTAGCGTGTCATGGAGGAGGATCGCGAACTTCAGACTCACGAATAGTCCACGAAGCAGGGGTAGGGCATCTGCTGGAGGTAGATTCCAACTGGAGCCTCCGCCTGCACCTGGCTCCTTGTGATCCCCTGTTCAACCATGTCCTGCAGATAGGCAAACCCGCCCCAGATGTACCGGAAATCTTCCACGGGATCAGCTCTGGGACCAGAATCCCAATACCTGAGAAGACACAGAGGGACAAAGGATGGGAACGGGCTTGGATAGCTCACTCACACCTCCCGACCACAGGGTGACTCGGAACTCATTCTCTTAAAATCTTTCTCCTAAACGCTTCAAAAGGATCCAATTCTATTTCCTAGTCCTCAGTTTAAATCTCAGTTTTGAATATTAGCCACAATGTGACTCTGTAATTGCTTTCATTCAAGGACTCTTTGTTGAGCTTTATAAAATATCTTATTTTTTCTTATTTAACTTAATTTTATTGATTTATGAGTCCAGTCTCAATCCCTTTCTCTCTACCAAATGTAATTTCCCACTGACTTTGGAGAAATGCAGCGAGCCCTTCCTGAAACATCACCTGTCTTTAATCTTATTGGTTTTCTCCACCACGTCTATGTCCATTCGGATCTTATACTTCACGTGGGGTGGTAGAGAGCTGGTCCAGGGATACATGTCAGGGAATACCACTCCGGCCCAGAACATGTTTTCCTCCAGTAGAGAGAGGGCACGTTGGGTGAGCTGAGTTTCATCATTGTAGCTTTCAAACTTATCCAGGACCAAGCACTGCAGAGAGTCACAAAGTTGAGAGAGTGTGAGGAGGACCAACTGCAAAGACTCAACTCTACACACAGAAAGTCACAGGATAAGGGCTGCTGTCCCAGGAAATGGTCAAATGCAAGGAGGCCTATAAACTTAATGTTTGCTTAACTCCAGAGTCTGGTGTTAATTTTTCAACGTGTCCAGATGTAGGGGCGCCAGAGAGCTTGGAAGTGCTGACGTGCTCTTATCCCTGCAGAGCTAGTGAGGACCACACTTTCCAGATGTCCAAGGCTGTCCAAATATGCAAGTCTTCAAAATGACAAAAATACTCCAGGCTTTTACTCTCCAGCATGGGGAGGCGAGGGAGTGGGGTCACACTGGCTACAGCCTGCTTTGAAGATCAGAAAGCCTGACGATTAAAGAGCTTTAAAGAGAGAGAGAAACATTCCTAGCCTTGAACCTTTCTGGCTCTCTCCAAACACACAGGATGGCCAGCTGAGGGAAGAGCAAGGAGGAAGAGAGAAAATAACAGACAGCCAAAATAACTTAGTCAGGGAAATCACTTCCAATTACAATTCTGTGACAAGTAATGCTGGGGGAGGAGGAATTTCTATAATATGCCTCTTTTCTTCTCCTGGAAGAGGAAAAAAAAAAACCATTACCCACAAAAGAGCAGAACTAAGAATGTTTGAAAATTTGAATATGATGGTTGTCCTCCTGTATAGATTTGTTAAAGCACTTATATTGCTATTTGCATCTATTTCCTTTTCTTTAACCTCCTGTTCCTATCATTGTGAGGGCTATTGGTGTCGACATTTCTTTCTTAGCATGTAACTCACAAGAAGTCAGATGGTCTTGTCTTGATTAAGTTGTTCCCTGAATGCATACTGAGAATCTGCAATGTGCCAGAGCCTGGTCGACTCTAGGAATACAAGAAGGAAAGATAAACATCTCTTCCTGAAAGAAAGTTGAGAGCTAATGAGGGAGAGGATTGGAGCAAACCAACAACCATAATGTGGAAGGATCAGGTTCTAATGAAAGCAAGCCCAGTGTATTGGGGAAGCCCAGCGGAGGGACGCAGCTAAGTCTTCCTGGAGGGATCAGGGAAGGCTGCCTGGAGGAAGAGCCTCCTGAGTAGGAGGATAAGCAGGAATTAGCCGAGGAGAGGAAAGTGGGGGAAAGGTCAGCTCAGGCACAGGGAACAGCACATGAGGTATCTGGGGACCTACAAGAATAGATCAGTGGTTCCCATCTGTGGCTGTGCTTTAGAACCACTGCGGAGCTTTAAAAGATACCTATGCCAGGCCCTACCCCAAGCAATTAAATCAGAATCTC
Task1_train_1287
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.
Pathogenic; Retinal dystrophy
TTACCATGATGAATATCGTCAGGAGGAAGATGCTCATCGACATGATGGAGAAGCTGTCCAGGAACCAGGTACACCAAATCACTGCATTGGAGACACCCTGATTTTTCAAGGTCTCCTTCAGTCGCAACTCCTTCTCCAAGACGATGCTCTTCACAGTCATGGAGACAGAGTAGATCCATGCCAGCACCATGAAGATAGGGAAACAGCGGTTCAGGATGATCATGAAACTAAAGCAAAAGGAGAGAAGCAGAATAGTAGAGTGCTCTGTACCTGGTAGAGGCAGAATAAATGTTTGTTGAATGAATGTGTTGAGAACAAAGCCCAGATGGAGGGAAAGGAAAACAGGAAAACCTCCCCTGGACATTTAATGGGCTGGAATCTTTTAACACATTCCATGTTAGCCCTGAAGCATTATTTTTTGTTTATAGCAGAGTGCTGGCTTTCTGGTTAGCCCGGGTGAATGCTCTGCAAGTAAAATGTGTCAATAAAATTATATCCTCTATGTCAAAGATCTTCCCTGTAAGGCCTTGCAAGGAAAAAACTGCAGACTTGATGATGTGGATGGGATCTGAGTAGACAGCTACATGCTGACACTGAAACCCAAGAGGGTGGAGGACTGACAAGGGCAAGTGGTGGTGGTAAGAGCAATAACTTGGCTCCCCAAGGGGTCAGCCGCCCCAGCACAGTCTGCCCTGGAAGGTCAAACCCTAGTTACACAAAAAGACACACAAAATAACTAATCAGTTTGGCACTTTCAGAAGGCGAATGATCCATCAATACATCAGTTATCCAACAGCCACTGGACCCACCACCAGCCATGCACAGGTGGAGGAGACCCTGGTATATCCACCTGGCAAACAGGATAGATTTGATACACTGGAACGACTTTCTTGTGAACTTTACACGTTTTCCCTGTGTTTCATGTGCTAGTAAAGCCCTTGGGATTATTATCTATTGAAAACTGTTGTGTGTTGTCACTGAAAGGGCCCAATTCCAGCATGGGAGGGTTTCACTCAAGGTGGCCCTAGGGAGAGAAGCATATGTTCGTAAAGCATGCACTTCTGGGACTAGCCACCAGAGGACTCTCCCATACCAAATGACCCAGCTCCCTATTGCCTCCCCACACCCACCTCACTTCCCCACCAGCCACTCCCGTCCTGATCCTAAAGTGGACCTGGGCTTTCGCCCCTGGCTCCATTTCCCAGCTCTGCCTATTGTCCGAACCCAAACTAACTGCAGACTGGCCACTGTTATCTCAAGTTTTCTGTAGAGCTGAGGCTGGAAAACCCATTGGACAGTTATTAAAAGAGGGTTTCCTGTGTCCACACTGAGTTTTAGGTGAACTCAATTGTAGATCTCTGCTGCTGTTTTGGTAGTGTGTCTGACCCCATCTATAATGACAAATGAGCCTCCCAACCCTCCACCCCGGCCCTTTCTCTACCACCCCCCAAATCCATATTCAGTCAAACAGTAGGCTGCTTGCTTGGCTTATTCCTGGTCAACAGATATACAGGCCTGGGATGGGAGTGTCCAGGGAGGCAGGTCCTGAGCTCATCCAACACATTCCTCTGCCTTGTCATTGAGCATACATCATGGAAATGTTAGTTAGGGAAGGGGCTGCATTATTCCAGGGCTCCCAGGAACCAGACCTACTGGCCATACAGAGTCCAAAATGAATGCTGATGTGGCAATCATTGGGCAAACATTCTGACCAGAACCCTTCCACATACCAAACATACTACATAGTGGGGAATTTGTCCCCTCCCCCAGCCTCACTTTCCTTGCTTTAATTTTCCCCTTCCCTTTTCCAGCTACAACATCAACTCTTTTCCCTTTCCCACCACTGCACTGACTCATCTGTGCCTGCCTGGAGCTTGGGAGAAGCAGGTTCCTCAGTCAGAGCTCCATGCTCTCCAATTTGGCTCTGGTCCCTGGGGCTCTCTCTAAAGACATGGAAGCCTTGAGGGCACCCCCAGCCCACCCCAGCCCACTCCAGCACCCCCATTAGCGTGTCATGGAGGAGGATCGCGAACTTCAGACTCACGAATCGTCCACGAAGCAGGGGTAGGGCATCTGCTGGAGGTAGATTCCAACTGGAGCCTCCGCCTGCACCTGGCTCCTTGTGATCCCCTGTTCAACCATGTCCTGCAGATAGGCAAACCCGCCCCAGATGTACCGGAAATCTTCCACGGGATCAGCTCTGGGACCAGAATCCCAATACCTGAGAAGACACAGAGGGACAAAGGATGGGAACGGGCTTGGATAGCTCACTCACACCTCCCGACCACAGGGTGACTCGGAACTCATTCTCTTAAAATCTTTCTCCTAAACGCTTCAAAAGGATCCAATTCTATTTCCTAGTCCTCAGTTTAAATCTCAGTTTTGAATATTAGCCACAATGTGACTCTGTAATTGCTTTCATTCAAGGACTCTTTGTTGAGCTTTATAAAATATCTTATTTTTTCTTATTTAACTTAATTTTATTGATTTATGAGTCCAGTCTCAATCCCTTTCTCTCTACCAAATGTAATTTCCCACTGACTTTGGAGAAATGCAGCGAGCCCTTCCTGAAACATCACCTGTCTTTAATCTTATTGGTTTTCTCCACCACGTCTATGTCCATTCGGATCTTATACTTCACGTGGGGTGGTAGAGAGCTGGTCCAGGGATACATGTCAGGGAATACCACTCCGGCCCAGAACATGTTTTCCTCCAGTAGAGAGAGGGCACGTTGGGTGAGCTGAGTTTCATCATTGTAGCTTTCAAACTTATCCAGGACCAAGCACTGCAGAGAGTCACAAAGTTGAGAGAGTGTGAGGAGGACCAACTGCAAAGACTCAACTCTACACACAGAAAGTCACAGGATAAGGGCTGCTGTCCCAGGAAATGGTCAAATGCAAGGAGGCCTATAAACTTAATGTTTGCTTAACTCCAGAGTCTGGTGTTAATTTTTCAACGTGTCCAGATGTAGGGGCGCCAGAGAGCTTGGAAGTGCTGACGTGCTCTTATCCCTGCAGAGCTAGTGAGGACCACACTTTCCAGATGTCCAAGGCTGTCCAAATATGCAAGTCTTCAAAATGACAAAAATACTCCAGGCTTTTACTCTCCAGCATGGGGAGGCGAGGGAGTGGGGTCACACTGGCTACAGCCTGCTTTGAAGATCAGAAAGCCTGACGATTAAAGAGCTTTAAAGAGAGAGAGAAACATTCCTAGCCTTGAACCTTTCTGGCTCTCTCCAAACACACAGGATGGCCAGCTGAGGGAAGAGCAAGGAGGAAGAGAGAAAATAACAGACAGCCAAAATAACTTAGTCAGGGAAATCACTTCCAATTACAATTCTGTGACAAGTAATGCTGGGGGAGGAGGAATTTCTATAATATGCCTCTTTTCTTCTCCTGGAAGAGGAAAAAAAAAAACCATTACCCACAAAAGAGCAGAACTAAGAATGTTTGAAAATTTGAATATGATGGTTGTCCTCCTGTATAGATTTGTTAAAGCACTTATATTGCTATTTGCATCTATTTCCTTTTCTTTAACCTCCTGTTCCTATCATTGTGAGGGCTATTGGTGTCGACATTTCTTTCTTAGCATGTAACTCACAAGAAGTCAGATGGTCTTGTCTTGATTAAGTTGTTCCCTGAATGCATACTGAGAATCTGCAATGTGCCAGAGCCTGGTCGACTCTAGGAATACAAGAAGGAAAGATAAACATCTCTTCCTGAAAGAAAGTTGAGAGCTAATGAGGGAGAGGATTGGAGCAAACCAACAACCATAATGTGGAAGGATCAGGTTCTAATGAAAGCAAGCCCAGTGTATTGGGGAAGCCCAGCGGAGGGACGCAGCTAAGTCTTCCTGGAGGGATCAGGGAAGGCTGCCTGGAGGAAGAGCCTCCTGAGTAGGAGGATAAGCAGGAATTAGCCGAGGAGAGGAAAGTGGGGGAAAGGTCAGCTCAGGCACAGGGAACAGCACATGAGGTATCTGGGGACCTACAAGAATAGATCAGTGGTTCCCATCTGTGGCTGTGCTTTAGAACCACTGCGGAGCTTTAAAAGATACCTATGCCAGGCCCTACCCCAAGCAATTAAATCAGAATCTC
TTACCATGATGAATATCGTCAGGAGGAAGATGCTCATCGACATGATGGAGAAGCTGTCCAGGAACCAGGTACACCAAATCACTGCATTGGAGACACCCTGATTTTTCAAGGTCTCCTTCAGTCGCAACTCCTTCTCCAAGACGATGCTCTTCACAGTCATGGAGACAGAGTAGATCCATGCCAGCACCATGAAGATAGGGAAACAGCGGTTCAGGATGATCATGAAACTAAAGCAAAAGGAGAGAAGCAGAATAGTAGAGTGCTCTGTACCTGGTAGAGGCAGAATAAATGTTTGTTGAATGAATGTGTTGAGAACAAAGCCCAGATGGAGGGAAAGGAAAACAGGAAAACCTCCCCTGGACATTTAATGGGCTGGAATCTTTTAACACATTCCATGTTAGCCCTGAAGCATTATTTTTTGTTTATAGCAGAGTGCTGGCTTTCTGGTTAGCCCGGGTGAATGCTCTGCAAGTAAAATGTGTCAATAAAATTATATCCTCTATGTCAAAGATCTTCCCTGTAAGGCCTTGCAAGGAAAAAACTGCAGACTTGATGATGTGGATGGGATCTGAGTAGACAGCTACATGCTGACACTGAAACCCAAGAGGGTGGAGGACTGACAAGGGCAAGTGGTGGTGGTAAGAGCAATAACTTGGCTCCCCAAGGGGTCAGCCGCCCCAGCACAGTCTGCCCTGGAAGGTCAAACCCTAGTTACACAAAAAGACACACAAAATAACTAATCAGTTTGGCACTTTCAGAAGGCGAATGATCCATCAATACATCAGTTATCCAACAGCCACTGGACCCACCACCAGCCATGCACAGGTGGAGGAGACCCTGGTATATCCACCTGGCAAACAGGATAGATTTGATACACTGGAACGACTTTCTTGTGAACTTTACACGTTTTCCCTGTGTTTCATGTGCTAGTAAAGCCCTTGGGATTATTATCTATTGAAAACTGTTGTGTGTTGTCACTGAAAGGGCCCAATTCCAGCATGGGAGGGTTTCACTCAAGGTGGCCCTAGGGAGAGAAGCATATGTTCGTAAAGCATGCACTTCTGGGACTAGCCACCAGAGGACTCTCCCATACCAAATGACCCAGCTCCCTATTGCCTCCCCACACCCACCTCACTTCCCCACCAGCCACTCCCGTCCTGATCCTAAAGTGGACCTGGGCTTTCGCCCCTGGCTCCATTTCCCAGCTCTGCCTATTGTCCGAACCCAAACTAACTGCAGACTGGCCACTGTTATCTCAAGTTTTCTGTAGAGCTGAGGCTGGAAAACCCATTGGACAGTTATTAAAAGAGGGTTTCCTGTGTCCACACTGAGTTTTAGGTGAACTCAATTGTAGATCTCTGCTGCTGTTTTGGTAGTGTGTCTGACCCCATCTATAATGACAAATGAGCCTCCCAACCCTCCACCCCGGCCCTTTCTCTACCACCCCCCAAATCCATATTCAGTCAAACAGTAGGCTGCTTGCTTGGCTTATTCCTGGTCAACAGATATACAGGCCTGGGATGGGAGTGTCCAGGGAGGCAGGTCCTGAGCTCATCCAACACATTCCTCTGCCTTGTCATTGAGCATACATCATGGAAATGTTAGTTAGGGAAGGGGCTGCATTATTCCAGGGCTCCCAGGAACCAGACCTACTGGCCATACAGAGTCCAAAATGAATGCTGATGTGGCAATCATTGGGCAAACATTCTGACCAGAACCCTTCCACATACCAAACATACTACATAGTGGGGAATTTGTCCCCTCCCCCAGCCTCACTTTCCTTGCTTTAATTTTCCCCTTCCCTTTTCCAGCTACAACATCAACTCTTTTCCCTTTCCCACCACTGCACTGACTCATCTGTGCCTGCCTGGAGCTTGGGAGAAGCAGGTTCCTCAGTCAGAGCTCCATGCTCTCCAATTTGGCTCTGGTCCCTGGGGCTCTCTCTAAAGACATGGAAGCCTTGAGGGCACCCCCAGCCCACCCCAGCCCACTCCAGCACCCCCATTAGCGTGTCATGGAGGAGGATCGCGAACTTCAGACTCACGAATTGTCCACGAAGCAGGGGTAGGGCATCTGCTGGAGGTAGATTCCAACTGGAGCCTCCGCCTGCACCTGGCTCCTTGTGATCCCCTGTTCAACCATGTCCTGCAGATAGGCAAACCCGCCCCAGATGTACCGGAAATCTTCCACGGGATCAGCTCTGGGACCAGAATCCCAATACCTGAGAAGACACAGAGGGACAAAGGATGGGAACGGGCTTGGATAGCTCACTCACACCTCCCGACCACAGGGTGACTCGGAACTCATTCTCTTAAAATCTTTCTCCTAAACGCTTCAAAAGGATCCAATTCTATTTCCTAGTCCTCAGTTTAAATCTCAGTTTTGAATATTAGCCACAATGTGACTCTGTAATTGCTTTCATTCAAGGACTCTTTGTTGAGCTTTATAAAATATCTTATTTTTTCTTATTTAACTTAATTTTATTGATTTATGAGTCCAGTCTCAATCCCTTTCTCTCTACCAAATGTAATTTCCCACTGACTTTGGAGAAATGCAGCGAGCCCTTCCTGAAACATCACCTGTCTTTAATCTTATTGGTTTTCTCCACCACGTCTATGTCCATTCGGATCTTATACTTCACGTGGGGTGGTAGAGAGCTGGTCCAGGGATACATGTCAGGGAATACCACTCCGGCCCAGAACATGTTTTCCTCCAGTAGAGAGAGGGCACGTTGGGTGAGCTGAGTTTCATCATTGTAGCTTTCAAACTTATCCAGGACCAAGCACTGCAGAGAGTCACAAAGTTGAGAGAGTGTGAGGAGGACCAACTGCAAAGACTCAACTCTACACACAGAAAGTCACAGGATAAGGGCTGCTGTCCCAGGAAATGGTCAAATGCAAGGAGGCCTATAAACTTAATGTTTGCTTAACTCCAGAGTCTGGTGTTAATTTTTCAACGTGTCCAGATGTAGGGGCGCCAGAGAGCTTGGAAGTGCTGACGTGCTCTTATCCCTGCAGAGCTAGTGAGGACCACACTTTCCAGATGTCCAAGGCTGTCCAAATATGCAAGTCTTCAAAATGACAAAAATACTCCAGGCTTTTACTCTCCAGCATGGGGAGGCGAGGGAGTGGGGTCACACTGGCTACAGCCTGCTTTGAAGATCAGAAAGCCTGACGATTAAAGAGCTTTAAAGAGAGAGAGAAACATTCCTAGCCTTGAACCTTTCTGGCTCTCTCCAAACACACAGGATGGCCAGCTGAGGGAAGAGCAAGGAGGAAGAGAGAAAATAACAGACAGCCAAAATAACTTAGTCAGGGAAATCACTTCCAATTACAATTCTGTGACAAGTAATGCTGGGGGAGGAGGAATTTCTATAATATGCCTCTTTTCTTCTCCTGGAAGAGGAAAAAAAAAAACCATTACCCACAAAAGAGCAGAACTAAGAATGTTTGAAAATTTGAATATGATGGTTGTCCTCCTGTATAGATTTGTTAAAGCACTTATATTGCTATTTGCATCTATTTCCTTTTCTTTAACCTCCTGTTCCTATCATTGTGAGGGCTATTGGTGTCGACATTTCTTTCTTAGCATGTAACTCACAAGAAGTCAGATGGTCTTGTCTTGATTAAGTTGTTCCCTGAATGCATACTGAGAATCTGCAATGTGCCAGAGCCTGGTCGACTCTAGGAATACAAGAAGGAAAGATAAACATCTCTTCCTGAAAGAAAGTTGAGAGCTAATGAGGGAGAGGATTGGAGCAAACCAACAACCATAATGTGGAAGGATCAGGTTCTAATGAAAGCAAGCCCAGTGTATTGGGGAAGCCCAGCGGAGGGACGCAGCTAAGTCTTCCTGGAGGGATCAGGGAAGGCTGCCTGGAGGAAGAGCCTCCTGAGTAGGAGGATAAGCAGGAATTAGCCGAGGAGAGGAAAGTGGGGGAAAGGTCAGCTCAGGCACAGGGAACAGCACATGAGGTATCTGGGGACCTACAAGAATAGATCAGTGGTTCCCATCTGTGGCTGTGCTTTAGAACCACTGCGGAGCTTTAAAAGATACCTATGCCAGGCCCTACCCCAAGCAATTAAATCAGAATCTC
Task1_train_1288
Gene ABCA4 (ATP binding cassette subfamily A member 4), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; Age related macular degeneration 2
TTACCATGATGAATATCGTCAGGAGGAAGATGCTCATCGACATGATGGAGAAGCTGTCCAGGAACCAGGTACACCAAATCACTGCATTGGAGACACCCTGATTTTTCAAGGTCTCCTTCAGTCGCAACTCCTTCTCCAAGACGATGCTCTTCACAGTCATGGAGACAGAGTAGATCCATGCCAGCACCATGAAGATAGGGAAACAGCGGTTCAGGATGATCATGAAACTAAAGCAAAAGGAGAGAAGCAGAATAGTAGAGTGCTCTGTACCTGGTAGAGGCAGAATAAATGTTTGTTGAATGAATGTGTTGAGAACAAAGCCCAGATGGAGGGAAAGGAAAACAGGAAAACCTCCCCTGGACATTTAATGGGCTGGAATCTTTTAACACATTCCATGTTAGCCCTGAAGCATTATTTTTTGTTTATAGCAGAGTGCTGGCTTTCTGGTTAGCCCGGGTGAATGCTCTGCAAGTAAAATGTGTCAATAAAATTATATCCTCTATGTCAAAGATCTTCCCTGTAAGGCCTTGCAAGGAAAAAACTGCAGACTTGATGATGTGGATGGGATCTGAGTAGACAGCTACATGCTGACACTGAAACCCAAGAGGGTGGAGGACTGACAAGGGCAAGTGGTGGTGGTAAGAGCAATAACTTGGCTCCCCAAGGGGTCAGCCGCCCCAGCACAGTCTGCCCTGGAAGGTCAAACCCTAGTTACACAAAAAGACACACAAAATAACTAATCAGTTTGGCACTTTCAGAAGGCGAATGATCCATCAATACATCAGTTATCCAACAGCCACTGGACCCACCACCAGCCATGCACAGGTGGAGGAGACCCTGGTATATCCACCTGGCAAACAGGATAGATTTGATACACTGGAACGACTTTCTTGTGAACTTTACACGTTTTCCCTGTGTTTCATGTGCTAGTAAAGCCCTTGGGATTATTATCTATTGAAAACTGTTGTGTGTTGTCACTGAAAGGGCCCAATTCCAGCATGGGAGGGTTTCACTCAAGGTGGCCCTAGGGAGAGAAGCATATGTTCGTAAAGCATGCACTTCTGGGACTAGCCACCAGAGGACTCTCCCATACCAAATGACCCAGCTCCCTATTGCCTCCCCACACCCACCTCACTTCCCCACCAGCCACTCCCGTCCTGATCCTAAAGTGGACCTGGGCTTTCGCCCCTGGCTCCATTTCCCAGCTCTGCCTATTGTCCGAACCCAAACTAACTGCAGACTGGCCACTGTTATCTCAAGTTTTCTGTAGAGCTGAGGCTGGAAAACCCATTGGACAGTTATTAAAAGAGGGTTTCCTGTGTCCACACTGAGTTTTAGGTGAACTCAATTGTAGATCTCTGCTGCTGTTTTGGTAGTGTGTCTGACCCCATCTATAATGACAAATGAGCCTCCCAACCCTCCACCCCGGCCCTTTCTCTACCACCCCCCAAATCCATATTCAGTCAAACAGTAGGCTGCTTGCTTGGCTTATTCCTGGTCAACAGATATACAGGCCTGGGATGGGAGTGTCCAGGGAGGCAGGTCCTGAGCTCATCCAACACATTCCTCTGCCTTGTCATTGAGCATACATCATGGAAATGTTAGTTAGGGAAGGGGCTGCATTATTCCAGGGCTCCCAGGAACCAGACCTACTGGCCATACAGAGTCCAAAATGAATGCTGATGTGGCAATCATTGGGCAAACATTCTGACCAGAACCCTTCCACATACCAAACATACTACATAGTGGGGAATTTGTCCCCTCCCCCAGCCTCACTTTCCTTGCTTTAATTTTCCCCTTCCCTTTTCCAGCTACAACATCAACTCTTTTCCCTTTCCCACCACTGCACTGACTCATCTGTGCCTGCCTGGAGCTTGGGAGAAGCAGGTTCCTCAGTCAGAGCTCCATGCTCTCCAATTTGGCTCTGGTCCCTGGGGCTCTCTCTAAAGACATGGAAGCCTTGAGGGCACCCCCAGCCCACCCCAGCCCACTCCAGCACCCCCATTAGCGTGTCATGGAGGAGGATCGCGAACTTCAGACTCACGAATCGTCCACGAAGCAGGGGTAGGGCATCTGCTGGAGGTAGATTCCAACTGGAGCCTCCGCCTGCACCTGGCTCCTTGTGATCCCCTGTTCAACCATGTCCTGCAGATAGGCAAACCCGCCCCAGATGTACCGGAAATCTTCCACGGGATCAGCTCTGGGACCAGAATCCCAATACCTGAGAAGACACAGAGGGACAAAGGATGGGAACGGGCTTGGATAGCTCACTCACACCTCCCGACCACAGGGTGACTCGGAACTCATTCTCTTAAAATCTTTCTCCTAAACGCTTCAAAAGGATCCAATTCTATTTCCTAGTCCTCAGTTTAAATCTCAGTTTTGAATATTAGCCACAATGTGACTCTGTAATTGCTTTCATTCAAGGACTCTTTGTTGAGCTTTATAAAATATCTTATTTTTTCTTATTTAACTTAATTTTATTGATTTATGAGTCCAGTCTCAATCCCTTTCTCTCTACCAAATGTAATTTCCCACTGACTTTGGAGAAATGCAGCGAGCCCTTCCTGAAACATCACCTGTCTTTAATCTTATTGGTTTTCTCCACCACGTCTATGTCCATTCGGATCTTATACTTCACGTGGGGTGGTAGAGAGCTGGTCCAGGGATACATGTCAGGGAATACCACTCCGGCCCAGAACATGTTTTCCTCCAGTAGAGAGAGGGCACGTTGGGTGAGCTGAGTTTCATCATTGTAGCTTTCAAACTTATCCAGGACCAAGCACTGCAGAGAGTCACAAAGTTGAGAGAGTGTGAGGAGGACCAACTGCAAAGACTCAACTCTACACACAGAAAGTCACAGGATAAGGGCTGCTGTCCCAGGAAATGGTCAAATGCAAGGAGGCCTATAAACTTAATGTTTGCTTAACTCCAGAGTCTGGTGTTAATTTTTCAACGTGTCCAGATGTAGGGGCGCCAGAGAGCTTGGAAGTGCTGACGTGCTCTTATCCCTGCAGAGCTAGTGAGGACCACACTTTCCAGATGTCCAAGGCTGTCCAAATATGCAAGTCTTCAAAATGACAAAAATACTCCAGGCTTTTACTCTCCAGCATGGGGAGGCGAGGGAGTGGGGTCACACTGGCTACAGCCTGCTTTGAAGATCAGAAAGCCTGACGATTAAAGAGCTTTAAAGAGAGAGAGAAACATTCCTAGCCTTGAACCTTTCTGGCTCTCTCCAAACACACAGGATGGCCAGCTGAGGGAAGAGCAAGGAGGAAGAGAGAAAATAACAGACAGCCAAAATAACTTAGTCAGGGAAATCACTTCCAATTACAATTCTGTGACAAGTAATGCTGGGGGAGGAGGAATTTCTATAATATGCCTCTTTTCTTCTCCTGGAAGAGGAAAAAAAAAAACCATTACCCACAAAAGAGCAGAACTAAGAATGTTTGAAAATTTGAATATGATGGTTGTCCTCCTGTATAGATTTGTTAAAGCACTTATATTGCTATTTGCATCTATTTCCTTTTCTTTAACCTCCTGTTCCTATCATTGTGAGGGCTATTGGTGTCGACATTTCTTTCTTAGCATGTAACTCACAAGAAGTCAGATGGTCTTGTCTTGATTAAGTTGTTCCCTGAATGCATACTGAGAATCTGCAATGTGCCAGAGCCTGGTCGACTCTAGGAATACAAGAAGGAAAGATAAACATCTCTTCCTGAAAGAAAGTTGAGAGCTAATGAGGGAGAGGATTGGAGCAAACCAACAACCATAATGTGGAAGGATCAGGTTCTAATGAAAGCAAGCCCAGTGTATTGGGGAAGCCCAGCGGAGGGACGCAGCTAAGTCTTCCTGGAGGGATCAGGGAAGGCTGCCTGGAGGAAGAGCCTCCTGAGTAGGAGGATAAGCAGGAATTAGCCGAGGAGAGGAAAGTGGGGGAAAGGTCAGCTCAGGCACAGGGAACAGCACATGAGGTATCTGGGGACCTACAAGAATAGATCAGTGGTTCCCATCTGTGGCTGTGCTTTAGAACCACTGCGGAGCTTTAAAAGATACCTATGCCAGGCCCTACCCCAAGCAATTAAATCAGAATCTC
TTACCATGATGAATATCGTCAGGAGGAAGATGCTCATCGACATGATGGAGAAGCTGTCCAGGAACCAGGTACACCAAATCACTGCATTGGAGACACCCTGATTTTTCAAGGTCTCCTTCAGTCGCAACTCCTTCTCCAAGACGATGCTCTTCACAGTCATGGAGACAGAGTAGATCCATGCCAGCACCATGAAGATAGGGAAACAGCGGTTCAGGATGATCATGAAACTAAAGCAAAAGGAGAGAAGCAGAATAGTAGAGTGCTCTGTACCTGGTAGAGGCAGAATAAATGTTTGTTGAATGAATGTGTTGAGAACAAAGCCCAGATGGAGGGAAAGGAAAACAGGAAAACCTCCCCTGGACATTTAATGGGCTGGAATCTTTTAACACATTCCATGTTAGCCCTGAAGCATTATTTTTTGTTTATAGCAGAGTGCTGGCTTTCTGGTTAGCCCGGGTGAATGCTCTGCAAGTAAAATGTGTCAATAAAATTATATCCTCTATGTCAAAGATCTTCCCTGTAAGGCCTTGCAAGGAAAAAACTGCAGACTTGATGATGTGGATGGGATCTGAGTAGACAGCTACATGCTGACACTGAAACCCAAGAGGGTGGAGGACTGACAAGGGCAAGTGGTGGTGGTAAGAGCAATAACTTGGCTCCCCAAGGGGTCAGCCGCCCCAGCACAGTCTGCCCTGGAAGGTCAAACCCTAGTTACACAAAAAGACACACAAAATAACTAATCAGTTTGGCACTTTCAGAAGGCGAATGATCCATCAATACATCAGTTATCCAACAGCCACTGGACCCACCACCAGCCATGCACAGGTGGAGGAGACCCTGGTATATCCACCTGGCAAACAGGATAGATTTGATACACTGGAACGACTTTCTTGTGAACTTTACACGTTTTCCCTGTGTTTCATGTGCTAGTAAAGCCCTTGGGATTATTATCTATTGAAAACTGTTGTGTGTTGTCACTGAAAGGGCCCAATTCCAGCATGGGAGGGTTTCACTCAAGGTGGCCCTAGGGAGAGAAGCATATGTTCGTAAAGCATGCACTTCTGGGACTAGCCACCAGAGGACTCTCCCATACCAAATGACCCAGCTCCCTATTGCCTCCCCACACCCACCTCACTTCCCCACCAGCCACTCCCGTCCTGATCCTAAAGTGGACCTGGGCTTTCGCCCCTGGCTCCATTTCCCAGCTCTGCCTATTGTCCGAACCCAAACTAACTGCAGACTGGCCACTGTTATCTCAAGTTTTCTGTAGAGCTGAGGCTGGAAAACCCATTGGACAGTTATTAAAAGAGGGTTTCCTGTGTCCACACTGAGTTTTAGGTGAACTCAATTGTAGATCTCTGCTGCTGTTTTGGTAGTGTGTCTGACCCCATCTATAATGACAAATGAGCCTCCCAACCCTCCACCCCGGCCCTTTCTCTACCACCCCCCAAATCCATATTCAGTCAAACAGTAGGCTGCTTGCTTGGCTTATTCCTGGTCAACAGATATACAGGCCTGGGATGGGAGTGTCCAGGGAGGCAGGTCCTGAGCTCATCCAACACATTCCTCTGCCTTGTCATTGAGCATACATCATGGAAATGTTAGTTAGGGAAGGGGCTGCATTATTCCAGGGCTCCCAGGAACCAGACCTACTGGCCATACAGAGTCCAAAATGAATGCTGATGTGGCAATCATTGGGCAAACATTCTGACCAGAACCCTTCCACATACCAAACATACTACATAGTGGGGAATTTGTCCCCTCCCCCAGCCTCACTTTCCTTGCTTTAATTTTCCCCTTCCCTTTTCCAGCTACAACATCAACTCTTTTCCCTTTCCCACCACTGCACTGACTCATCTGTGCCTGCCTGGAGCTTGGGAGAAGCAGGTTCCTCAGTCAGAGCTCCATGCTCTCCAATTTGGCTCTGGTCCCTGGGGCTCTCTCTAAAGACATGGAAGCCTTGAGGGCACCCCCAGCCCACCCCAGCCCACTCCAGCACCCCCATTAGCGTGTCATGGAGGAGGATCGCGAACTTCAGACTCACGAATTGTCCACGAAGCAGGGGTAGGGCATCTGCTGGAGGTAGATTCCAACTGGAGCCTCCGCCTGCACCTGGCTCCTTGTGATCCCCTGTTCAACCATGTCCTGCAGATAGGCAAACCCGCCCCAGATGTACCGGAAATCTTCCACGGGATCAGCTCTGGGACCAGAATCCCAATACCTGAGAAGACACAGAGGGACAAAGGATGGGAACGGGCTTGGATAGCTCACTCACACCTCCCGACCACAGGGTGACTCGGAACTCATTCTCTTAAAATCTTTCTCCTAAACGCTTCAAAAGGATCCAATTCTATTTCCTAGTCCTCAGTTTAAATCTCAGTTTTGAATATTAGCCACAATGTGACTCTGTAATTGCTTTCATTCAAGGACTCTTTGTTGAGCTTTATAAAATATCTTATTTTTTCTTATTTAACTTAATTTTATTGATTTATGAGTCCAGTCTCAATCCCTTTCTCTCTACCAAATGTAATTTCCCACTGACTTTGGAGAAATGCAGCGAGCCCTTCCTGAAACATCACCTGTCTTTAATCTTATTGGTTTTCTCCACCACGTCTATGTCCATTCGGATCTTATACTTCACGTGGGGTGGTAGAGAGCTGGTCCAGGGATACATGTCAGGGAATACCACTCCGGCCCAGAACATGTTTTCCTCCAGTAGAGAGAGGGCACGTTGGGTGAGCTGAGTTTCATCATTGTAGCTTTCAAACTTATCCAGGACCAAGCACTGCAGAGAGTCACAAAGTTGAGAGAGTGTGAGGAGGACCAACTGCAAAGACTCAACTCTACACACAGAAAGTCACAGGATAAGGGCTGCTGTCCCAGGAAATGGTCAAATGCAAGGAGGCCTATAAACTTAATGTTTGCTTAACTCCAGAGTCTGGTGTTAATTTTTCAACGTGTCCAGATGTAGGGGCGCCAGAGAGCTTGGAAGTGCTGACGTGCTCTTATCCCTGCAGAGCTAGTGAGGACCACACTTTCCAGATGTCCAAGGCTGTCCAAATATGCAAGTCTTCAAAATGACAAAAATACTCCAGGCTTTTACTCTCCAGCATGGGGAGGCGAGGGAGTGGGGTCACACTGGCTACAGCCTGCTTTGAAGATCAGAAAGCCTGACGATTAAAGAGCTTTAAAGAGAGAGAGAAACATTCCTAGCCTTGAACCTTTCTGGCTCTCTCCAAACACACAGGATGGCCAGCTGAGGGAAGAGCAAGGAGGAAGAGAGAAAATAACAGACAGCCAAAATAACTTAGTCAGGGAAATCACTTCCAATTACAATTCTGTGACAAGTAATGCTGGGGGAGGAGGAATTTCTATAATATGCCTCTTTTCTTCTCCTGGAAGAGGAAAAAAAAAAACCATTACCCACAAAAGAGCAGAACTAAGAATGTTTGAAAATTTGAATATGATGGTTGTCCTCCTGTATAGATTTGTTAAAGCACTTATATTGCTATTTGCATCTATTTCCTTTTCTTTAACCTCCTGTTCCTATCATTGTGAGGGCTATTGGTGTCGACATTTCTTTCTTAGCATGTAACTCACAAGAAGTCAGATGGTCTTGTCTTGATTAAGTTGTTCCCTGAATGCATACTGAGAATCTGCAATGTGCCAGAGCCTGGTCGACTCTAGGAATACAAGAAGGAAAGATAAACATCTCTTCCTGAAAGAAAGTTGAGAGCTAATGAGGGAGAGGATTGGAGCAAACCAACAACCATAATGTGGAAGGATCAGGTTCTAATGAAAGCAAGCCCAGTGTATTGGGGAAGCCCAGCGGAGGGACGCAGCTAAGTCTTCCTGGAGGGATCAGGGAAGGCTGCCTGGAGGAAGAGCCTCCTGAGTAGGAGGATAAGCAGGAATTAGCCGAGGAGAGGAAAGTGGGGGAAAGGTCAGCTCAGGCACAGGGAACAGCACATGAGGTATCTGGGGACCTACAAGAATAGATCAGTGGTTCCCATCTGTGGCTGTGCTTTAGAACCACTGCGGAGCTTTAAAAGATACCTATGCCAGGCCCTACCCCAAGCAATTAAATCAGAATCTC
Task1_train_1289
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?
Pathogenic; Cone-rod dystrophy 3
TTACCATGATGAATATCGTCAGGAGGAAGATGCTCATCGACATGATGGAGAAGCTGTCCAGGAACCAGGTACACCAAATCACTGCATTGGAGACACCCTGATTTTTCAAGGTCTCCTTCAGTCGCAACTCCTTCTCCAAGACGATGCTCTTCACAGTCATGGAGACAGAGTAGATCCATGCCAGCACCATGAAGATAGGGAAACAGCGGTTCAGGATGATCATGAAACTAAAGCAAAAGGAGAGAAGCAGAATAGTAGAGTGCTCTGTACCTGGTAGAGGCAGAATAAATGTTTGTTGAATGAATGTGTTGAGAACAAAGCCCAGATGGAGGGAAAGGAAAACAGGAAAACCTCCCCTGGACATTTAATGGGCTGGAATCTTTTAACACATTCCATGTTAGCCCTGAAGCATTATTTTTTGTTTATAGCAGAGTGCTGGCTTTCTGGTTAGCCCGGGTGAATGCTCTGCAAGTAAAATGTGTCAATAAAATTATATCCTCTATGTCAAAGATCTTCCCTGTAAGGCCTTGCAAGGAAAAAACTGCAGACTTGATGATGTGGATGGGATCTGAGTAGACAGCTACATGCTGACACTGAAACCCAAGAGGGTGGAGGACTGACAAGGGCAAGTGGTGGTGGTAAGAGCAATAACTTGGCTCCCCAAGGGGTCAGCCGCCCCAGCACAGTCTGCCCTGGAAGGTCAAACCCTAGTTACACAAAAAGACACACAAAATAACTAATCAGTTTGGCACTTTCAGAAGGCGAATGATCCATCAATACATCAGTTATCCAACAGCCACTGGACCCACCACCAGCCATGCACAGGTGGAGGAGACCCTGGTATATCCACCTGGCAAACAGGATAGATTTGATACACTGGAACGACTTTCTTGTGAACTTTACACGTTTTCCCTGTGTTTCATGTGCTAGTAAAGCCCTTGGGATTATTATCTATTGAAAACTGTTGTGTGTTGTCACTGAAAGGGCCCAATTCCAGCATGGGAGGGTTTCACTCAAGGTGGCCCTAGGGAGAGAAGCATATGTTCGTAAAGCATGCACTTCTGGGACTAGCCACCAGAGGACTCTCCCATACCAAATGACCCAGCTCCCTATTGCCTCCCCACACCCACCTCACTTCCCCACCAGCCACTCCCGTCCTGATCCTAAAGTGGACCTGGGCTTTCGCCCCTGGCTCCATTTCCCAGCTCTGCCTATTGTCCGAACCCAAACTAACTGCAGACTGGCCACTGTTATCTCAAGTTTTCTGTAGAGCTGAGGCTGGAAAACCCATTGGACAGTTATTAAAAGAGGGTTTCCTGTGTCCACACTGAGTTTTAGGTGAACTCAATTGTAGATCTCTGCTGCTGTTTTGGTAGTGTGTCTGACCCCATCTATAATGACAAATGAGCCTCCCAACCCTCCACCCCGGCCCTTTCTCTACCACCCCCCAAATCCATATTCAGTCAAACAGTAGGCTGCTTGCTTGGCTTATTCCTGGTCAACAGATATACAGGCCTGGGATGGGAGTGTCCAGGGAGGCAGGTCCTGAGCTCATCCAACACATTCCTCTGCCTTGTCATTGAGCATACATCATGGAAATGTTAGTTAGGGAAGGGGCTGCATTATTCCAGGGCTCCCAGGAACCAGACCTACTGGCCATACAGAGTCCAAAATGAATGCTGATGTGGCAATCATTGGGCAAACATTCTGACCAGAACCCTTCCACATACCAAACATACTACATAGTGGGGAATTTGTCCCCTCCCCCAGCCTCACTTTCCTTGCTTTAATTTTCCCCTTCCCTTTTCCAGCTACAACATCAACTCTTTTCCCTTTCCCACCACTGCACTGACTCATCTGTGCCTGCCTGGAGCTTGGGAGAAGCAGGTTCCTCAGTCAGAGCTCCATGCTCTCCAATTTGGCTCTGGTCCCTGGGGCTCTCTCTAAAGACATGGAAGCCTTGAGGGCACCCCCAGCCCACCCCAGCCCACTCCAGCACCCCCATTAGCGTGTCATGGAGGAGGATCGCGAACTTCAGACTCACGAATCGTCCACGAAGCAGGGGTAGGGCATCTGCTGGAGGTAGATTCCAACTGGAGCCTCCGCCTGCACCTGGCTCCTTGTGATCCCCTGTTCAACCATGTCCTGCAGATAGGCAAACCCGCCCCAGATGTACCGGAAATCTTCCACGGGATCAGCTCTGGGACCAGAATCCCAATACCTGAGAAGACACAGAGGGACAAAGGATGGGAACGGGCTTGGATAGCTCACTCACACCTCCCGACCACAGGGTGACTCGGAACTCATTCTCTTAAAATCTTTCTCCTAAACGCTTCAAAAGGATCCAATTCTATTTCCTAGTCCTCAGTTTAAATCTCAGTTTTGAATATTAGCCACAATGTGACTCTGTAATTGCTTTCATTCAAGGACTCTTTGTTGAGCTTTATAAAATATCTTATTTTTTCTTATTTAACTTAATTTTATTGATTTATGAGTCCAGTCTCAATCCCTTTCTCTCTACCAAATGTAATTTCCCACTGACTTTGGAGAAATGCAGCGAGCCCTTCCTGAAACATCACCTGTCTTTAATCTTATTGGTTTTCTCCACCACGTCTATGTCCATTCGGATCTTATACTTCACGTGGGGTGGTAGAGAGCTGGTCCAGGGATACATGTCAGGGAATACCACTCCGGCCCAGAACATGTTTTCCTCCAGTAGAGAGAGGGCACGTTGGGTGAGCTGAGTTTCATCATTGTAGCTTTCAAACTTATCCAGGACCAAGCACTGCAGAGAGTCACAAAGTTGAGAGAGTGTGAGGAGGACCAACTGCAAAGACTCAACTCTACACACAGAAAGTCACAGGATAAGGGCTGCTGTCCCAGGAAATGGTCAAATGCAAGGAGGCCTATAAACTTAATGTTTGCTTAACTCCAGAGTCTGGTGTTAATTTTTCAACGTGTCCAGATGTAGGGGCGCCAGAGAGCTTGGAAGTGCTGACGTGCTCTTATCCCTGCAGAGCTAGTGAGGACCACACTTTCCAGATGTCCAAGGCTGTCCAAATATGCAAGTCTTCAAAATGACAAAAATACTCCAGGCTTTTACTCTCCAGCATGGGGAGGCGAGGGAGTGGGGTCACACTGGCTACAGCCTGCTTTGAAGATCAGAAAGCCTGACGATTAAAGAGCTTTAAAGAGAGAGAGAAACATTCCTAGCCTTGAACCTTTCTGGCTCTCTCCAAACACACAGGATGGCCAGCTGAGGGAAGAGCAAGGAGGAAGAGAGAAAATAACAGACAGCCAAAATAACTTAGTCAGGGAAATCACTTCCAATTACAATTCTGTGACAAGTAATGCTGGGGGAGGAGGAATTTCTATAATATGCCTCTTTTCTTCTCCTGGAAGAGGAAAAAAAAAAACCATTACCCACAAAAGAGCAGAACTAAGAATGTTTGAAAATTTGAATATGATGGTTGTCCTCCTGTATAGATTTGTTAAAGCACTTATATTGCTATTTGCATCTATTTCCTTTTCTTTAACCTCCTGTTCCTATCATTGTGAGGGCTATTGGTGTCGACATTTCTTTCTTAGCATGTAACTCACAAGAAGTCAGATGGTCTTGTCTTGATTAAGTTGTTCCCTGAATGCATACTGAGAATCTGCAATGTGCCAGAGCCTGGTCGACTCTAGGAATACAAGAAGGAAAGATAAACATCTCTTCCTGAAAGAAAGTTGAGAGCTAATGAGGGAGAGGATTGGAGCAAACCAACAACCATAATGTGGAAGGATCAGGTTCTAATGAAAGCAAGCCCAGTGTATTGGGGAAGCCCAGCGGAGGGACGCAGCTAAGTCTTCCTGGAGGGATCAGGGAAGGCTGCCTGGAGGAAGAGCCTCCTGAGTAGGAGGATAAGCAGGAATTAGCCGAGGAGAGGAAAGTGGGGGAAAGGTCAGCTCAGGCACAGGGAACAGCACATGAGGTATCTGGGGACCTACAAGAATAGATCAGTGGTTCCCATCTGTGGCTGTGCTTTAGAACCACTGCGGAGCTTTAAAAGATACCTATGCCAGGCCCTACCCCAAGCAATTAAATCAGAATCTC
TTACCATGATGAATATCGTCAGGAGGAAGATGCTCATCGACATGATGGAGAAGCTGTCCAGGAACCAGGTACACCAAATCACTGCATTGGAGACACCCTGATTTTTCAAGGTCTCCTTCAGTCGCAACTCCTTCTCCAAGACGATGCTCTTCACAGTCATGGAGACAGAGTAGATCCATGCCAGCACCATGAAGATAGGGAAACAGCGGTTCAGGATGATCATGAAACTAAAGCAAAAGGAGAGAAGCAGAATAGTAGAGTGCTCTGTACCTGGTAGAGGCAGAATAAATGTTTGTTGAATGAATGTGTTGAGAACAAAGCCCAGATGGAGGGAAAGGAAAACAGGAAAACCTCCCCTGGACATTTAATGGGCTGGAATCTTTTAACACATTCCATGTTAGCCCTGAAGCATTATTTTTTGTTTATAGCAGAGTGCTGGCTTTCTGGTTAGCCCGGGTGAATGCTCTGCAAGTAAAATGTGTCAATAAAATTATATCCTCTATGTCAAAGATCTTCCCTGTAAGGCCTTGCAAGGAAAAAACTGCAGACTTGATGATGTGGATGGGATCTGAGTAGACAGCTACATGCTGACACTGAAACCCAAGAGGGTGGAGGACTGACAAGGGCAAGTGGTGGTGGTAAGAGCAATAACTTGGCTCCCCAAGGGGTCAGCCGCCCCAGCACAGTCTGCCCTGGAAGGTCAAACCCTAGTTACACAAAAAGACACACAAAATAACTAATCAGTTTGGCACTTTCAGAAGGCGAATGATCCATCAATACATCAGTTATCCAACAGCCACTGGACCCACCACCAGCCATGCACAGGTGGAGGAGACCCTGGTATATCCACCTGGCAAACAGGATAGATTTGATACACTGGAACGACTTTCTTGTGAACTTTACACGTTTTCCCTGTGTTTCATGTGCTAGTAAAGCCCTTGGGATTATTATCTATTGAAAACTGTTGTGTGTTGTCACTGAAAGGGCCCAATTCCAGCATGGGAGGGTTTCACTCAAGGTGGCCCTAGGGAGAGAAGCATATGTTCGTAAAGCATGCACTTCTGGGACTAGCCACCAGAGGACTCTCCCATACCAAATGACCCAGCTCCCTATTGCCTCCCCACACCCACCTCACTTCCCCACCAGCCACTCCCGTCCTGATCCTAAAGTGGACCTGGGCTTTCGCCCCTGGCTCCATTTCCCAGCTCTGCCTATTGTCCGAACCCAAACTAACTGCAGACTGGCCACTGTTATCTCAAGTTTTCTGTAGAGCTGAGGCTGGAAAACCCATTGGACAGTTATTAAAAGAGGGTTTCCTGTGTCCACACTGAGTTTTAGGTGAACTCAATTGTAGATCTCTGCTGCTGTTTTGGTAGTGTGTCTGACCCCATCTATAATGACAAATGAGCCTCCCAACCCTCCACCCCGGCCCTTTCTCTACCACCCCCCAAATCCATATTCAGTCAAACAGTAGGCTGCTTGCTTGGCTTATTCCTGGTCAACAGATATACAGGCCTGGGATGGGAGTGTCCAGGGAGGCAGGTCCTGAGCTCATCCAACACATTCCTCTGCCTTGTCATTGAGCATACATCATGGAAATGTTAGTTAGGGAAGGGGCTGCATTATTCCAGGGCTCCCAGGAACCAGACCTACTGGCCATACAGAGTCCAAAATGAATGCTGATGTGGCAATCATTGGGCAAACATTCTGACCAGAACCCTTCCACATACCAAACATACTACATAGTGGGGAATTTGTCCCCTCCCCCAGCCTCACTTTCCTTGCTTTAATTTTCCCCTTCCCTTTTCCAGCTACAACATCAACTCTTTTCCCTTTCCCACCACTGCACTGACTCATCTGTGCCTGCCTGGAGCTTGGGAGAAGCAGGTTCCTCAGTCAGAGCTCCATGCTCTCCAATTTGGCTCTGGTCCCTGGGGCTCTCTCTAAAGACATGGAAGCCTTGAGGGCACCCCCAGCCCACCCCAGCCCACTCCAGCACCCCCATTAGCGTGTCATGGAGGAGGATCGCGAACTTCAGACTCACGAATTGTCCACGAAGCAGGGGTAGGGCATCTGCTGGAGGTAGATTCCAACTGGAGCCTCCGCCTGCACCTGGCTCCTTGTGATCCCCTGTTCAACCATGTCCTGCAGATAGGCAAACCCGCCCCAGATGTACCGGAAATCTTCCACGGGATCAGCTCTGGGACCAGAATCCCAATACCTGAGAAGACACAGAGGGACAAAGGATGGGAACGGGCTTGGATAGCTCACTCACACCTCCCGACCACAGGGTGACTCGGAACTCATTCTCTTAAAATCTTTCTCCTAAACGCTTCAAAAGGATCCAATTCTATTTCCTAGTCCTCAGTTTAAATCTCAGTTTTGAATATTAGCCACAATGTGACTCTGTAATTGCTTTCATTCAAGGACTCTTTGTTGAGCTTTATAAAATATCTTATTTTTTCTTATTTAACTTAATTTTATTGATTTATGAGTCCAGTCTCAATCCCTTTCTCTCTACCAAATGTAATTTCCCACTGACTTTGGAGAAATGCAGCGAGCCCTTCCTGAAACATCACCTGTCTTTAATCTTATTGGTTTTCTCCACCACGTCTATGTCCATTCGGATCTTATACTTCACGTGGGGTGGTAGAGAGCTGGTCCAGGGATACATGTCAGGGAATACCACTCCGGCCCAGAACATGTTTTCCTCCAGTAGAGAGAGGGCACGTTGGGTGAGCTGAGTTTCATCATTGTAGCTTTCAAACTTATCCAGGACCAAGCACTGCAGAGAGTCACAAAGTTGAGAGAGTGTGAGGAGGACCAACTGCAAAGACTCAACTCTACACACAGAAAGTCACAGGATAAGGGCTGCTGTCCCAGGAAATGGTCAAATGCAAGGAGGCCTATAAACTTAATGTTTGCTTAACTCCAGAGTCTGGTGTTAATTTTTCAACGTGTCCAGATGTAGGGGCGCCAGAGAGCTTGGAAGTGCTGACGTGCTCTTATCCCTGCAGAGCTAGTGAGGACCACACTTTCCAGATGTCCAAGGCTGTCCAAATATGCAAGTCTTCAAAATGACAAAAATACTCCAGGCTTTTACTCTCCAGCATGGGGAGGCGAGGGAGTGGGGTCACACTGGCTACAGCCTGCTTTGAAGATCAGAAAGCCTGACGATTAAAGAGCTTTAAAGAGAGAGAGAAACATTCCTAGCCTTGAACCTTTCTGGCTCTCTCCAAACACACAGGATGGCCAGCTGAGGGAAGAGCAAGGAGGAAGAGAGAAAATAACAGACAGCCAAAATAACTTAGTCAGGGAAATCACTTCCAATTACAATTCTGTGACAAGTAATGCTGGGGGAGGAGGAATTTCTATAATATGCCTCTTTTCTTCTCCTGGAAGAGGAAAAAAAAAAACCATTACCCACAAAAGAGCAGAACTAAGAATGTTTGAAAATTTGAATATGATGGTTGTCCTCCTGTATAGATTTGTTAAAGCACTTATATTGCTATTTGCATCTATTTCCTTTTCTTTAACCTCCTGTTCCTATCATTGTGAGGGCTATTGGTGTCGACATTTCTTTCTTAGCATGTAACTCACAAGAAGTCAGATGGTCTTGTCTTGATTAAGTTGTTCCCTGAATGCATACTGAGAATCTGCAATGTGCCAGAGCCTGGTCGACTCTAGGAATACAAGAAGGAAAGATAAACATCTCTTCCTGAAAGAAAGTTGAGAGCTAATGAGGGAGAGGATTGGAGCAAACCAACAACCATAATGTGGAAGGATCAGGTTCTAATGAAAGCAAGCCCAGTGTATTGGGGAAGCCCAGCGGAGGGACGCAGCTAAGTCTTCCTGGAGGGATCAGGGAAGGCTGCCTGGAGGAAGAGCCTCCTGAGTAGGAGGATAAGCAGGAATTAGCCGAGGAGAGGAAAGTGGGGGAAAGGTCAGCTCAGGCACAGGGAACAGCACATGAGGTATCTGGGGACCTACAAGAATAGATCAGTGGTTCCCATCTGTGGCTGTGCTTTAGAACCACTGCGGAGCTTTAAAAGATACCTATGCCAGGCCCTACCCCAAGCAATTAAATCAGAATCTC
Task1_train_1290
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.
Pathogenic; Severe early-childhood-onset retinal dystrophy
TTACCATGATGAATATCGTCAGGAGGAAGATGCTCATCGACATGATGGAGAAGCTGTCCAGGAACCAGGTACACCAAATCACTGCATTGGAGACACCCTGATTTTTCAAGGTCTCCTTCAGTCGCAACTCCTTCTCCAAGACGATGCTCTTCACAGTCATGGAGACAGAGTAGATCCATGCCAGCACCATGAAGATAGGGAAACAGCGGTTCAGGATGATCATGAAACTAAAGCAAAAGGAGAGAAGCAGAATAGTAGAGTGCTCTGTACCTGGTAGAGGCAGAATAAATGTTTGTTGAATGAATGTGTTGAGAACAAAGCCCAGATGGAGGGAAAGGAAAACAGGAAAACCTCCCCTGGACATTTAATGGGCTGGAATCTTTTAACACATTCCATGTTAGCCCTGAAGCATTATTTTTTGTTTATAGCAGAGTGCTGGCTTTCTGGTTAGCCCGGGTGAATGCTCTGCAAGTAAAATGTGTCAATAAAATTATATCCTCTATGTCAAAGATCTTCCCTGTAAGGCCTTGCAAGGAAAAAACTGCAGACTTGATGATGTGGATGGGATCTGAGTAGACAGCTACATGCTGACACTGAAACCCAAGAGGGTGGAGGACTGACAAGGGCAAGTGGTGGTGGTAAGAGCAATAACTTGGCTCCCCAAGGGGTCAGCCGCCCCAGCACAGTCTGCCCTGGAAGGTCAAACCCTAGTTACACAAAAAGACACACAAAATAACTAATCAGTTTGGCACTTTCAGAAGGCGAATGATCCATCAATACATCAGTTATCCAACAGCCACTGGACCCACCACCAGCCATGCACAGGTGGAGGAGACCCTGGTATATCCACCTGGCAAACAGGATAGATTTGATACACTGGAACGACTTTCTTGTGAACTTTACACGTTTTCCCTGTGTTTCATGTGCTAGTAAAGCCCTTGGGATTATTATCTATTGAAAACTGTTGTGTGTTGTCACTGAAAGGGCCCAATTCCAGCATGGGAGGGTTTCACTCAAGGTGGCCCTAGGGAGAGAAGCATATGTTCGTAAAGCATGCACTTCTGGGACTAGCCACCAGAGGACTCTCCCATACCAAATGACCCAGCTCCCTATTGCCTCCCCACACCCACCTCACTTCCCCACCAGCCACTCCCGTCCTGATCCTAAAGTGGACCTGGGCTTTCGCCCCTGGCTCCATTTCCCAGCTCTGCCTATTGTCCGAACCCAAACTAACTGCAGACTGGCCACTGTTATCTCAAGTTTTCTGTAGAGCTGAGGCTGGAAAACCCATTGGACAGTTATTAAAAGAGGGTTTCCTGTGTCCACACTGAGTTTTAGGTGAACTCAATTGTAGATCTCTGCTGCTGTTTTGGTAGTGTGTCTGACCCCATCTATAATGACAAATGAGCCTCCCAACCCTCCACCCCGGCCCTTTCTCTACCACCCCCCAAATCCATATTCAGTCAAACAGTAGGCTGCTTGCTTGGCTTATTCCTGGTCAACAGATATACAGGCCTGGGATGGGAGTGTCCAGGGAGGCAGGTCCTGAGCTCATCCAACACATTCCTCTGCCTTGTCATTGAGCATACATCATGGAAATGTTAGTTAGGGAAGGGGCTGCATTATTCCAGGGCTCCCAGGAACCAGACCTACTGGCCATACAGAGTCCAAAATGAATGCTGATGTGGCAATCATTGGGCAAACATTCTGACCAGAACCCTTCCACATACCAAACATACTACATAGTGGGGAATTTGTCCCCTCCCCCAGCCTCACTTTCCTTGCTTTAATTTTCCCCTTCCCTTTTCCAGCTACAACATCAACTCTTTTCCCTTTCCCACCACTGCACTGACTCATCTGTGCCTGCCTGGAGCTTGGGAGAAGCAGGTTCCTCAGTCAGAGCTCCATGCTCTCCAATTTGGCTCTGGTCCCTGGGGCTCTCTCTAAAGACATGGAAGCCTTGAGGGCACCCCCAGCCCACCCCAGCCCACTCCAGCACCCCCATTAGCGTGTCATGGAGGAGGATCGCGAACTTCAGACTCACGAATCGTCCACGAAGCAGGGGTAGGGCATCTGCTGGAGGTAGATTCCAACTGGAGCCTCCGCCTGCACCTGGCTCCTTGTGATCCCCTGTTCAACCATGTCCTGCAGATAGGCAAACCCGCCCCAGATGTACCGGAAATCTTCCACGGGATCAGCTCTGGGACCAGAATCCCAATACCTGAGAAGACACAGAGGGACAAAGGATGGGAACGGGCTTGGATAGCTCACTCACACCTCCCGACCACAGGGTGACTCGGAACTCATTCTCTTAAAATCTTTCTCCTAAACGCTTCAAAAGGATCCAATTCTATTTCCTAGTCCTCAGTTTAAATCTCAGTTTTGAATATTAGCCACAATGTGACTCTGTAATTGCTTTCATTCAAGGACTCTTTGTTGAGCTTTATAAAATATCTTATTTTTTCTTATTTAACTTAATTTTATTGATTTATGAGTCCAGTCTCAATCCCTTTCTCTCTACCAAATGTAATTTCCCACTGACTTTGGAGAAATGCAGCGAGCCCTTCCTGAAACATCACCTGTCTTTAATCTTATTGGTTTTCTCCACCACGTCTATGTCCATTCGGATCTTATACTTCACGTGGGGTGGTAGAGAGCTGGTCCAGGGATACATGTCAGGGAATACCACTCCGGCCCAGAACATGTTTTCCTCCAGTAGAGAGAGGGCACGTTGGGTGAGCTGAGTTTCATCATTGTAGCTTTCAAACTTATCCAGGACCAAGCACTGCAGAGAGTCACAAAGTTGAGAGAGTGTGAGGAGGACCAACTGCAAAGACTCAACTCTACACACAGAAAGTCACAGGATAAGGGCTGCTGTCCCAGGAAATGGTCAAATGCAAGGAGGCCTATAAACTTAATGTTTGCTTAACTCCAGAGTCTGGTGTTAATTTTTCAACGTGTCCAGATGTAGGGGCGCCAGAGAGCTTGGAAGTGCTGACGTGCTCTTATCCCTGCAGAGCTAGTGAGGACCACACTTTCCAGATGTCCAAGGCTGTCCAAATATGCAAGTCTTCAAAATGACAAAAATACTCCAGGCTTTTACTCTCCAGCATGGGGAGGCGAGGGAGTGGGGTCACACTGGCTACAGCCTGCTTTGAAGATCAGAAAGCCTGACGATTAAAGAGCTTTAAAGAGAGAGAGAAACATTCCTAGCCTTGAACCTTTCTGGCTCTCTCCAAACACACAGGATGGCCAGCTGAGGGAAGAGCAAGGAGGAAGAGAGAAAATAACAGACAGCCAAAATAACTTAGTCAGGGAAATCACTTCCAATTACAATTCTGTGACAAGTAATGCTGGGGGAGGAGGAATTTCTATAATATGCCTCTTTTCTTCTCCTGGAAGAGGAAAAAAAAAAACCATTACCCACAAAAGAGCAGAACTAAGAATGTTTGAAAATTTGAATATGATGGTTGTCCTCCTGTATAGATTTGTTAAAGCACTTATATTGCTATTTGCATCTATTTCCTTTTCTTTAACCTCCTGTTCCTATCATTGTGAGGGCTATTGGTGTCGACATTTCTTTCTTAGCATGTAACTCACAAGAAGTCAGATGGTCTTGTCTTGATTAAGTTGTTCCCTGAATGCATACTGAGAATCTGCAATGTGCCAGAGCCTGGTCGACTCTAGGAATACAAGAAGGAAAGATAAACATCTCTTCCTGAAAGAAAGTTGAGAGCTAATGAGGGAGAGGATTGGAGCAAACCAACAACCATAATGTGGAAGGATCAGGTTCTAATGAAAGCAAGCCCAGTGTATTGGGGAAGCCCAGCGGAGGGACGCAGCTAAGTCTTCCTGGAGGGATCAGGGAAGGCTGCCTGGAGGAAGAGCCTCCTGAGTAGGAGGATAAGCAGGAATTAGCCGAGGAGAGGAAAGTGGGGGAAAGGTCAGCTCAGGCACAGGGAACAGCACATGAGGTATCTGGGGACCTACAAGAATAGATCAGTGGTTCCCATCTGTGGCTGTGCTTTAGAACCACTGCGGAGCTTTAAAAGATACCTATGCCAGGCCCTACCCCAAGCAATTAAATCAGAATCTC
TTACCATGATGAATATCGTCAGGAGGAAGATGCTCATCGACATGATGGAGAAGCTGTCCAGGAACCAGGTACACCAAATCACTGCATTGGAGACACCCTGATTTTTCAAGGTCTCCTTCAGTCGCAACTCCTTCTCCAAGACGATGCTCTTCACAGTCATGGAGACAGAGTAGATCCATGCCAGCACCATGAAGATAGGGAAACAGCGGTTCAGGATGATCATGAAACTAAAGCAAAAGGAGAGAAGCAGAATAGTAGAGTGCTCTGTACCTGGTAGAGGCAGAATAAATGTTTGTTGAATGAATGTGTTGAGAACAAAGCCCAGATGGAGGGAAAGGAAAACAGGAAAACCTCCCCTGGACATTTAATGGGCTGGAATCTTTTAACACATTCCATGTTAGCCCTGAAGCATTATTTTTTGTTTATAGCAGAGTGCTGGCTTTCTGGTTAGCCCGGGTGAATGCTCTGCAAGTAAAATGTGTCAATAAAATTATATCCTCTATGTCAAAGATCTTCCCTGTAAGGCCTTGCAAGGAAAAAACTGCAGACTTGATGATGTGGATGGGATCTGAGTAGACAGCTACATGCTGACACTGAAACCCAAGAGGGTGGAGGACTGACAAGGGCAAGTGGTGGTGGTAAGAGCAATAACTTGGCTCCCCAAGGGGTCAGCCGCCCCAGCACAGTCTGCCCTGGAAGGTCAAACCCTAGTTACACAAAAAGACACACAAAATAACTAATCAGTTTGGCACTTTCAGAAGGCGAATGATCCATCAATACATCAGTTATCCAACAGCCACTGGACCCACCACCAGCCATGCACAGGTGGAGGAGACCCTGGTATATCCACCTGGCAAACAGGATAGATTTGATACACTGGAACGACTTTCTTGTGAACTTTACACGTTTTCCCTGTGTTTCATGTGCTAGTAAAGCCCTTGGGATTATTATCTATTGAAAACTGTTGTGTGTTGTCACTGAAAGGGCCCAATTCCAGCATGGGAGGGTTTCACTCAAGGTGGCCCTAGGGAGAGAAGCATATGTTCGTAAAGCATGCACTTCTGGGACTAGCCACCAGAGGACTCTCCCATACCAAATGACCCAGCTCCCTATTGCCTCCCCACACCCACCTCACTTCCCCACCAGCCACTCCCGTCCTGATCCTAAAGTGGACCTGGGCTTTCGCCCCTGGCTCCATTTCCCAGCTCTGCCTATTGTCCGAACCCAAACTAACTGCAGACTGGCCACTGTTATCTCAAGTTTTCTGTAGAGCTGAGGCTGGAAAACCCATTGGACAGTTATTAAAAGAGGGTTTCCTGTGTCCACACTGAGTTTTAGGTGAACTCAATTGTAGATCTCTGCTGCTGTTTTGGTAGTGTGTCTGACCCCATCTATAATGACAAATGAGCCTCCCAACCCTCCACCCCGGCCCTTTCTCTACCACCCCCCAAATCCATATTCAGTCAAACAGTAGGCTGCTTGCTTGGCTTATTCCTGGTCAACAGATATACAGGCCTGGGATGGGAGTGTCCAGGGAGGCAGGTCCTGAGCTCATCCAACACATTCCTCTGCCTTGTCATTGAGCATACATCATGGAAATGTTAGTTAGGGAAGGGGCTGCATTATTCCAGGGCTCCCAGGAACCAGACCTACTGGCCATACAGAGTCCAAAATGAATGCTGATGTGGCAATCATTGGGCAAACATTCTGACCAGAACCCTTCCACATACCAAACATACTACATAGTGGGGAATTTGTCCCCTCCCCCAGCCTCACTTTCCTTGCTTTAATTTTCCCCTTCCCTTTTCCAGCTACAACATCAACTCTTTTCCCTTTCCCACCACTGCACTGACTCATCTGTGCCTGCCTGGAGCTTGGGAGAAGCAGGTTCCTCAGTCAGAGCTCCATGCTCTCCAATTTGGCTCTGGTCCCTGGGGCTCTCTCTAAAGACATGGAAGCCTTGAGGGCACCCCCAGCCCACCCCAGCCCACTCCAGCACCCCCATTAGCGTGTCATGGAGGAGGATCGCGAACTTCAGACTCACGAATTGTCCACGAAGCAGGGGTAGGGCATCTGCTGGAGGTAGATTCCAACTGGAGCCTCCGCCTGCACCTGGCTCCTTGTGATCCCCTGTTCAACCATGTCCTGCAGATAGGCAAACCCGCCCCAGATGTACCGGAAATCTTCCACGGGATCAGCTCTGGGACCAGAATCCCAATACCTGAGAAGACACAGAGGGACAAAGGATGGGAACGGGCTTGGATAGCTCACTCACACCTCCCGACCACAGGGTGACTCGGAACTCATTCTCTTAAAATCTTTCTCCTAAACGCTTCAAAAGGATCCAATTCTATTTCCTAGTCCTCAGTTTAAATCTCAGTTTTGAATATTAGCCACAATGTGACTCTGTAATTGCTTTCATTCAAGGACTCTTTGTTGAGCTTTATAAAATATCTTATTTTTTCTTATTTAACTTAATTTTATTGATTTATGAGTCCAGTCTCAATCCCTTTCTCTCTACCAAATGTAATTTCCCACTGACTTTGGAGAAATGCAGCGAGCCCTTCCTGAAACATCACCTGTCTTTAATCTTATTGGTTTTCTCCACCACGTCTATGTCCATTCGGATCTTATACTTCACGTGGGGTGGTAGAGAGCTGGTCCAGGGATACATGTCAGGGAATACCACTCCGGCCCAGAACATGTTTTCCTCCAGTAGAGAGAGGGCACGTTGGGTGAGCTGAGTTTCATCATTGTAGCTTTCAAACTTATCCAGGACCAAGCACTGCAGAGAGTCACAAAGTTGAGAGAGTGTGAGGAGGACCAACTGCAAAGACTCAACTCTACACACAGAAAGTCACAGGATAAGGGCTGCTGTCCCAGGAAATGGTCAAATGCAAGGAGGCCTATAAACTTAATGTTTGCTTAACTCCAGAGTCTGGTGTTAATTTTTCAACGTGTCCAGATGTAGGGGCGCCAGAGAGCTTGGAAGTGCTGACGTGCTCTTATCCCTGCAGAGCTAGTGAGGACCACACTTTCCAGATGTCCAAGGCTGTCCAAATATGCAAGTCTTCAAAATGACAAAAATACTCCAGGCTTTTACTCTCCAGCATGGGGAGGCGAGGGAGTGGGGTCACACTGGCTACAGCCTGCTTTGAAGATCAGAAAGCCTGACGATTAAAGAGCTTTAAAGAGAGAGAGAAACATTCCTAGCCTTGAACCTTTCTGGCTCTCTCCAAACACACAGGATGGCCAGCTGAGGGAAGAGCAAGGAGGAAGAGAGAAAATAACAGACAGCCAAAATAACTTAGTCAGGGAAATCACTTCCAATTACAATTCTGTGACAAGTAATGCTGGGGGAGGAGGAATTTCTATAATATGCCTCTTTTCTTCTCCTGGAAGAGGAAAAAAAAAAACCATTACCCACAAAAGAGCAGAACTAAGAATGTTTGAAAATTTGAATATGATGGTTGTCCTCCTGTATAGATTTGTTAAAGCACTTATATTGCTATTTGCATCTATTTCCTTTTCTTTAACCTCCTGTTCCTATCATTGTGAGGGCTATTGGTGTCGACATTTCTTTCTTAGCATGTAACTCACAAGAAGTCAGATGGTCTTGTCTTGATTAAGTTGTTCCCTGAATGCATACTGAGAATCTGCAATGTGCCAGAGCCTGGTCGACTCTAGGAATACAAGAAGGAAAGATAAACATCTCTTCCTGAAAGAAAGTTGAGAGCTAATGAGGGAGAGGATTGGAGCAAACCAACAACCATAATGTGGAAGGATCAGGTTCTAATGAAAGCAAGCCCAGTGTATTGGGGAAGCCCAGCGGAGGGACGCAGCTAAGTCTTCCTGGAGGGATCAGGGAAGGCTGCCTGGAGGAAGAGCCTCCTGAGTAGGAGGATAAGCAGGAATTAGCCGAGGAGAGGAAAGTGGGGGAAAGGTCAGCTCAGGCACAGGGAACAGCACATGAGGTATCTGGGGACCTACAAGAATAGATCAGTGGTTCCCATCTGTGGCTGTGCTTTAGAACCACTGCGGAGCTTTAAAAGATACCTATGCCAGGCCCTACCCCAAGCAATTAAATCAGAATCTC
Task1_train_1291
A sequence alteration has been identified in ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Is it disease-inducing or harmless?
Pathogenic; Retinitis pigmentosa 19
TTACCATGATGAATATCGTCAGGAGGAAGATGCTCATCGACATGATGGAGAAGCTGTCCAGGAACCAGGTACACCAAATCACTGCATTGGAGACACCCTGATTTTTCAAGGTCTCCTTCAGTCGCAACTCCTTCTCCAAGACGATGCTCTTCACAGTCATGGAGACAGAGTAGATCCATGCCAGCACCATGAAGATAGGGAAACAGCGGTTCAGGATGATCATGAAACTAAAGCAAAAGGAGAGAAGCAGAATAGTAGAGTGCTCTGTACCTGGTAGAGGCAGAATAAATGTTTGTTGAATGAATGTGTTGAGAACAAAGCCCAGATGGAGGGAAAGGAAAACAGGAAAACCTCCCCTGGACATTTAATGGGCTGGAATCTTTTAACACATTCCATGTTAGCCCTGAAGCATTATTTTTTGTTTATAGCAGAGTGCTGGCTTTCTGGTTAGCCCGGGTGAATGCTCTGCAAGTAAAATGTGTCAATAAAATTATATCCTCTATGTCAAAGATCTTCCCTGTAAGGCCTTGCAAGGAAAAAACTGCAGACTTGATGATGTGGATGGGATCTGAGTAGACAGCTACATGCTGACACTGAAACCCAAGAGGGTGGAGGACTGACAAGGGCAAGTGGTGGTGGTAAGAGCAATAACTTGGCTCCCCAAGGGGTCAGCCGCCCCAGCACAGTCTGCCCTGGAAGGTCAAACCCTAGTTACACAAAAAGACACACAAAATAACTAATCAGTTTGGCACTTTCAGAAGGCGAATGATCCATCAATACATCAGTTATCCAACAGCCACTGGACCCACCACCAGCCATGCACAGGTGGAGGAGACCCTGGTATATCCACCTGGCAAACAGGATAGATTTGATACACTGGAACGACTTTCTTGTGAACTTTACACGTTTTCCCTGTGTTTCATGTGCTAGTAAAGCCCTTGGGATTATTATCTATTGAAAACTGTTGTGTGTTGTCACTGAAAGGGCCCAATTCCAGCATGGGAGGGTTTCACTCAAGGTGGCCCTAGGGAGAGAAGCATATGTTCGTAAAGCATGCACTTCTGGGACTAGCCACCAGAGGACTCTCCCATACCAAATGACCCAGCTCCCTATTGCCTCCCCACACCCACCTCACTTCCCCACCAGCCACTCCCGTCCTGATCCTAAAGTGGACCTGGGCTTTCGCCCCTGGCTCCATTTCCCAGCTCTGCCTATTGTCCGAACCCAAACTAACTGCAGACTGGCCACTGTTATCTCAAGTTTTCTGTAGAGCTGAGGCTGGAAAACCCATTGGACAGTTATTAAAAGAGGGTTTCCTGTGTCCACACTGAGTTTTAGGTGAACTCAATTGTAGATCTCTGCTGCTGTTTTGGTAGTGTGTCTGACCCCATCTATAATGACAAATGAGCCTCCCAACCCTCCACCCCGGCCCTTTCTCTACCACCCCCCAAATCCATATTCAGTCAAACAGTAGGCTGCTTGCTTGGCTTATTCCTGGTCAACAGATATACAGGCCTGGGATGGGAGTGTCCAGGGAGGCAGGTCCTGAGCTCATCCAACACATTCCTCTGCCTTGTCATTGAGCATACATCATGGAAATGTTAGTTAGGGAAGGGGCTGCATTATTCCAGGGCTCCCAGGAACCAGACCTACTGGCCATACAGAGTCCAAAATGAATGCTGATGTGGCAATCATTGGGCAAACATTCTGACCAGAACCCTTCCACATACCAAACATACTACATAGTGGGGAATTTGTCCCCTCCCCCAGCCTCACTTTCCTTGCTTTAATTTTCCCCTTCCCTTTTCCAGCTACAACATCAACTCTTTTCCCTTTCCCACCACTGCACTGACTCATCTGTGCCTGCCTGGAGCTTGGGAGAAGCAGGTTCCTCAGTCAGAGCTCCATGCTCTCCAATTTGGCTCTGGTCCCTGGGGCTCTCTCTAAAGACATGGAAGCCTTGAGGGCACCCCCAGCCCACCCCAGCCCACTCCAGCACCCCCATTAGCGTGTCATGGAGGAGGATCGCGAACTTCAGACTCACGAATCGTCCACGAAGCAGGGGTAGGGCATCTGCTGGAGGTAGATTCCAACTGGAGCCTCCGCCTGCACCTGGCTCCTTGTGATCCCCTGTTCAACCATGTCCTGCAGATAGGCAAACCCGCCCCAGATGTACCGGAAATCTTCCACGGGATCAGCTCTGGGACCAGAATCCCAATACCTGAGAAGACACAGAGGGACAAAGGATGGGAACGGGCTTGGATAGCTCACTCACACCTCCCGACCACAGGGTGACTCGGAACTCATTCTCTTAAAATCTTTCTCCTAAACGCTTCAAAAGGATCCAATTCTATTTCCTAGTCCTCAGTTTAAATCTCAGTTTTGAATATTAGCCACAATGTGACTCTGTAATTGCTTTCATTCAAGGACTCTTTGTTGAGCTTTATAAAATATCTTATTTTTTCTTATTTAACTTAATTTTATTGATTTATGAGTCCAGTCTCAATCCCTTTCTCTCTACCAAATGTAATTTCCCACTGACTTTGGAGAAATGCAGCGAGCCCTTCCTGAAACATCACCTGTCTTTAATCTTATTGGTTTTCTCCACCACGTCTATGTCCATTCGGATCTTATACTTCACGTGGGGTGGTAGAGAGCTGGTCCAGGGATACATGTCAGGGAATACCACTCCGGCCCAGAACATGTTTTCCTCCAGTAGAGAGAGGGCACGTTGGGTGAGCTGAGTTTCATCATTGTAGCTTTCAAACTTATCCAGGACCAAGCACTGCAGAGAGTCACAAAGTTGAGAGAGTGTGAGGAGGACCAACTGCAAAGACTCAACTCTACACACAGAAAGTCACAGGATAAGGGCTGCTGTCCCAGGAAATGGTCAAATGCAAGGAGGCCTATAAACTTAATGTTTGCTTAACTCCAGAGTCTGGTGTTAATTTTTCAACGTGTCCAGATGTAGGGGCGCCAGAGAGCTTGGAAGTGCTGACGTGCTCTTATCCCTGCAGAGCTAGTGAGGACCACACTTTCCAGATGTCCAAGGCTGTCCAAATATGCAAGTCTTCAAAATGACAAAAATACTCCAGGCTTTTACTCTCCAGCATGGGGAGGCGAGGGAGTGGGGTCACACTGGCTACAGCCTGCTTTGAAGATCAGAAAGCCTGACGATTAAAGAGCTTTAAAGAGAGAGAGAAACATTCCTAGCCTTGAACCTTTCTGGCTCTCTCCAAACACACAGGATGGCCAGCTGAGGGAAGAGCAAGGAGGAAGAGAGAAAATAACAGACAGCCAAAATAACTTAGTCAGGGAAATCACTTCCAATTACAATTCTGTGACAAGTAATGCTGGGGGAGGAGGAATTTCTATAATATGCCTCTTTTCTTCTCCTGGAAGAGGAAAAAAAAAAACCATTACCCACAAAAGAGCAGAACTAAGAATGTTTGAAAATTTGAATATGATGGTTGTCCTCCTGTATAGATTTGTTAAAGCACTTATATTGCTATTTGCATCTATTTCCTTTTCTTTAACCTCCTGTTCCTATCATTGTGAGGGCTATTGGTGTCGACATTTCTTTCTTAGCATGTAACTCACAAGAAGTCAGATGGTCTTGTCTTGATTAAGTTGTTCCCTGAATGCATACTGAGAATCTGCAATGTGCCAGAGCCTGGTCGACTCTAGGAATACAAGAAGGAAAGATAAACATCTCTTCCTGAAAGAAAGTTGAGAGCTAATGAGGGAGAGGATTGGAGCAAACCAACAACCATAATGTGGAAGGATCAGGTTCTAATGAAAGCAAGCCCAGTGTATTGGGGAAGCCCAGCGGAGGGACGCAGCTAAGTCTTCCTGGAGGGATCAGGGAAGGCTGCCTGGAGGAAGAGCCTCCTGAGTAGGAGGATAAGCAGGAATTAGCCGAGGAGAGGAAAGTGGGGGAAAGGTCAGCTCAGGCACAGGGAACAGCACATGAGGTATCTGGGGACCTACAAGAATAGATCAGTGGTTCCCATCTGTGGCTGTGCTTTAGAACCACTGCGGAGCTTTAAAAGATACCTATGCCAGGCCCTACCCCAAGCAATTAAATCAGAATCTC
TTACCATGATGAATATCGTCAGGAGGAAGATGCTCATCGACATGATGGAGAAGCTGTCCAGGAACCAGGTACACCAAATCACTGCATTGGAGACACCCTGATTTTTCAAGGTCTCCTTCAGTCGCAACTCCTTCTCCAAGACGATGCTCTTCACAGTCATGGAGACAGAGTAGATCCATGCCAGCACCATGAAGATAGGGAAACAGCGGTTCAGGATGATCATGAAACTAAAGCAAAAGGAGAGAAGCAGAATAGTAGAGTGCTCTGTACCTGGTAGAGGCAGAATAAATGTTTGTTGAATGAATGTGTTGAGAACAAAGCCCAGATGGAGGGAAAGGAAAACAGGAAAACCTCCCCTGGACATTTAATGGGCTGGAATCTTTTAACACATTCCATGTTAGCCCTGAAGCATTATTTTTTGTTTATAGCAGAGTGCTGGCTTTCTGGTTAGCCCGGGTGAATGCTCTGCAAGTAAAATGTGTCAATAAAATTATATCCTCTATGTCAAAGATCTTCCCTGTAAGGCCTTGCAAGGAAAAAACTGCAGACTTGATGATGTGGATGGGATCTGAGTAGACAGCTACATGCTGACACTGAAACCCAAGAGGGTGGAGGACTGACAAGGGCAAGTGGTGGTGGTAAGAGCAATAACTTGGCTCCCCAAGGGGTCAGCCGCCCCAGCACAGTCTGCCCTGGAAGGTCAAACCCTAGTTACACAAAAAGACACACAAAATAACTAATCAGTTTGGCACTTTCAGAAGGCGAATGATCCATCAATACATCAGTTATCCAACAGCCACTGGACCCACCACCAGCCATGCACAGGTGGAGGAGACCCTGGTATATCCACCTGGCAAACAGGATAGATTTGATACACTGGAACGACTTTCTTGTGAACTTTACACGTTTTCCCTGTGTTTCATGTGCTAGTAAAGCCCTTGGGATTATTATCTATTGAAAACTGTTGTGTGTTGTCACTGAAAGGGCCCAATTCCAGCATGGGAGGGTTTCACTCAAGGTGGCCCTAGGGAGAGAAGCATATGTTCGTAAAGCATGCACTTCTGGGACTAGCCACCAGAGGACTCTCCCATACCAAATGACCCAGCTCCCTATTGCCTCCCCACACCCACCTCACTTCCCCACCAGCCACTCCCGTCCTGATCCTAAAGTGGACCTGGGCTTTCGCCCCTGGCTCCATTTCCCAGCTCTGCCTATTGTCCGAACCCAAACTAACTGCAGACTGGCCACTGTTATCTCAAGTTTTCTGTAGAGCTGAGGCTGGAAAACCCATTGGACAGTTATTAAAAGAGGGTTTCCTGTGTCCACACTGAGTTTTAGGTGAACTCAATTGTAGATCTCTGCTGCTGTTTTGGTAGTGTGTCTGACCCCATCTATAATGACAAATGAGCCTCCCAACCCTCCACCCCGGCCCTTTCTCTACCACCCCCCAAATCCATATTCAGTCAAACAGTAGGCTGCTTGCTTGGCTTATTCCTGGTCAACAGATATACAGGCCTGGGATGGGAGTGTCCAGGGAGGCAGGTCCTGAGCTCATCCAACACATTCCTCTGCCTTGTCATTGAGCATACATCATGGAAATGTTAGTTAGGGAAGGGGCTGCATTATTCCAGGGCTCCCAGGAACCAGACCTACTGGCCATACAGAGTCCAAAATGAATGCTGATGTGGCAATCATTGGGCAAACATTCTGACCAGAACCCTTCCACATACCAAACATACTACATAGTGGGGAATTTGTCCCCTCCCCCAGCCTCACTTTCCTTGCTTTAATTTTCCCCTTCCCTTTTCCAGCTACAACATCAACTCTTTTCCCTTTCCCACCACTGCACTGACTCATCTGTGCCTGCCTGGAGCTTGGGAGAAGCAGGTTCCTCAGTCAGAGCTCCATGCTCTCCAATTTGGCTCTGGTCCCTGGGGCTCTCTCTAAAGACATGGAAGCCTTGAGGGCACCCCCAGCCCACCCCAGCCCACTCCAGCACCCCCATTAGCGTGTCATGGAGGAGGATCGCGAACTTCAGACTCACGAATTGTCCACGAAGCAGGGGTAGGGCATCTGCTGGAGGTAGATTCCAACTGGAGCCTCCGCCTGCACCTGGCTCCTTGTGATCCCCTGTTCAACCATGTCCTGCAGATAGGCAAACCCGCCCCAGATGTACCGGAAATCTTCCACGGGATCAGCTCTGGGACCAGAATCCCAATACCTGAGAAGACACAGAGGGACAAAGGATGGGAACGGGCTTGGATAGCTCACTCACACCTCCCGACCACAGGGTGACTCGGAACTCATTCTCTTAAAATCTTTCTCCTAAACGCTTCAAAAGGATCCAATTCTATTTCCTAGTCCTCAGTTTAAATCTCAGTTTTGAATATTAGCCACAATGTGACTCTGTAATTGCTTTCATTCAAGGACTCTTTGTTGAGCTTTATAAAATATCTTATTTTTTCTTATTTAACTTAATTTTATTGATTTATGAGTCCAGTCTCAATCCCTTTCTCTCTACCAAATGTAATTTCCCACTGACTTTGGAGAAATGCAGCGAGCCCTTCCTGAAACATCACCTGTCTTTAATCTTATTGGTTTTCTCCACCACGTCTATGTCCATTCGGATCTTATACTTCACGTGGGGTGGTAGAGAGCTGGTCCAGGGATACATGTCAGGGAATACCACTCCGGCCCAGAACATGTTTTCCTCCAGTAGAGAGAGGGCACGTTGGGTGAGCTGAGTTTCATCATTGTAGCTTTCAAACTTATCCAGGACCAAGCACTGCAGAGAGTCACAAAGTTGAGAGAGTGTGAGGAGGACCAACTGCAAAGACTCAACTCTACACACAGAAAGTCACAGGATAAGGGCTGCTGTCCCAGGAAATGGTCAAATGCAAGGAGGCCTATAAACTTAATGTTTGCTTAACTCCAGAGTCTGGTGTTAATTTTTCAACGTGTCCAGATGTAGGGGCGCCAGAGAGCTTGGAAGTGCTGACGTGCTCTTATCCCTGCAGAGCTAGTGAGGACCACACTTTCCAGATGTCCAAGGCTGTCCAAATATGCAAGTCTTCAAAATGACAAAAATACTCCAGGCTTTTACTCTCCAGCATGGGGAGGCGAGGGAGTGGGGTCACACTGGCTACAGCCTGCTTTGAAGATCAGAAAGCCTGACGATTAAAGAGCTTTAAAGAGAGAGAGAAACATTCCTAGCCTTGAACCTTTCTGGCTCTCTCCAAACACACAGGATGGCCAGCTGAGGGAAGAGCAAGGAGGAAGAGAGAAAATAACAGACAGCCAAAATAACTTAGTCAGGGAAATCACTTCCAATTACAATTCTGTGACAAGTAATGCTGGGGGAGGAGGAATTTCTATAATATGCCTCTTTTCTTCTCCTGGAAGAGGAAAAAAAAAAACCATTACCCACAAAAGAGCAGAACTAAGAATGTTTGAAAATTTGAATATGATGGTTGTCCTCCTGTATAGATTTGTTAAAGCACTTATATTGCTATTTGCATCTATTTCCTTTTCTTTAACCTCCTGTTCCTATCATTGTGAGGGCTATTGGTGTCGACATTTCTTTCTTAGCATGTAACTCACAAGAAGTCAGATGGTCTTGTCTTGATTAAGTTGTTCCCTGAATGCATACTGAGAATCTGCAATGTGCCAGAGCCTGGTCGACTCTAGGAATACAAGAAGGAAAGATAAACATCTCTTCCTGAAAGAAAGTTGAGAGCTAATGAGGGAGAGGATTGGAGCAAACCAACAACCATAATGTGGAAGGATCAGGTTCTAATGAAAGCAAGCCCAGTGTATTGGGGAAGCCCAGCGGAGGGACGCAGCTAAGTCTTCCTGGAGGGATCAGGGAAGGCTGCCTGGAGGAAGAGCCTCCTGAGTAGGAGGATAAGCAGGAATTAGCCGAGGAGAGGAAAGTGGGGGAAAGGTCAGCTCAGGCACAGGGAACAGCACATGAGGTATCTGGGGACCTACAAGAATAGATCAGTGGTTCCCATCTGTGGCTGTGCTTTAGAACCACTGCGGAGCTTTAAAAGATACCTATGCCAGGCCCTACCCCAAGCAATTAAATCAGAATCTC
Task1_train_1292
A sequence alteration has been identified in ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Is it disease-inducing or harmless?
Pathogenic; Retinitis pigmentosa
TTACCATGATGAATATCGTCAGGAGGAAGATGCTCATCGACATGATGGAGAAGCTGTCCAGGAACCAGGTACACCAAATCACTGCATTGGAGACACCCTGATTTTTCAAGGTCTCCTTCAGTCGCAACTCCTTCTCCAAGACGATGCTCTTCACAGTCATGGAGACAGAGTAGATCCATGCCAGCACCATGAAGATAGGGAAACAGCGGTTCAGGATGATCATGAAACTAAAGCAAAAGGAGAGAAGCAGAATAGTAGAGTGCTCTGTACCTGGTAGAGGCAGAATAAATGTTTGTTGAATGAATGTGTTGAGAACAAAGCCCAGATGGAGGGAAAGGAAAACAGGAAAACCTCCCCTGGACATTTAATGGGCTGGAATCTTTTAACACATTCCATGTTAGCCCTGAAGCATTATTTTTTGTTTATAGCAGAGTGCTGGCTTTCTGGTTAGCCCGGGTGAATGCTCTGCAAGTAAAATGTGTCAATAAAATTATATCCTCTATGTCAAAGATCTTCCCTGTAAGGCCTTGCAAGGAAAAAACTGCAGACTTGATGATGTGGATGGGATCTGAGTAGACAGCTACATGCTGACACTGAAACCCAAGAGGGTGGAGGACTGACAAGGGCAAGTGGTGGTGGTAAGAGCAATAACTTGGCTCCCCAAGGGGTCAGCCGCCCCAGCACAGTCTGCCCTGGAAGGTCAAACCCTAGTTACACAAAAAGACACACAAAATAACTAATCAGTTTGGCACTTTCAGAAGGCGAATGATCCATCAATACATCAGTTATCCAACAGCCACTGGACCCACCACCAGCCATGCACAGGTGGAGGAGACCCTGGTATATCCACCTGGCAAACAGGATAGATTTGATACACTGGAACGACTTTCTTGTGAACTTTACACGTTTTCCCTGTGTTTCATGTGCTAGTAAAGCCCTTGGGATTATTATCTATTGAAAACTGTTGTGTGTTGTCACTGAAAGGGCCCAATTCCAGCATGGGAGGGTTTCACTCAAGGTGGCCCTAGGGAGAGAAGCATATGTTCGTAAAGCATGCACTTCTGGGACTAGCCACCAGAGGACTCTCCCATACCAAATGACCCAGCTCCCTATTGCCTCCCCACACCCACCTCACTTCCCCACCAGCCACTCCCGTCCTGATCCTAAAGTGGACCTGGGCTTTCGCCCCTGGCTCCATTTCCCAGCTCTGCCTATTGTCCGAACCCAAACTAACTGCAGACTGGCCACTGTTATCTCAAGTTTTCTGTAGAGCTGAGGCTGGAAAACCCATTGGACAGTTATTAAAAGAGGGTTTCCTGTGTCCACACTGAGTTTTAGGTGAACTCAATTGTAGATCTCTGCTGCTGTTTTGGTAGTGTGTCTGACCCCATCTATAATGACAAATGAGCCTCCCAACCCTCCACCCCGGCCCTTTCTCTACCACCCCCCAAATCCATATTCAGTCAAACAGTAGGCTGCTTGCTTGGCTTATTCCTGGTCAACAGATATACAGGCCTGGGATGGGAGTGTCCAGGGAGGCAGGTCCTGAGCTCATCCAACACATTCCTCTGCCTTGTCATTGAGCATACATCATGGAAATGTTAGTTAGGGAAGGGGCTGCATTATTCCAGGGCTCCCAGGAACCAGACCTACTGGCCATACAGAGTCCAAAATGAATGCTGATGTGGCAATCATTGGGCAAACATTCTGACCAGAACCCTTCCACATACCAAACATACTACATAGTGGGGAATTTGTCCCCTCCCCCAGCCTCACTTTCCTTGCTTTAATTTTCCCCTTCCCTTTTCCAGCTACAACATCAACTCTTTTCCCTTTCCCACCACTGCACTGACTCATCTGTGCCTGCCTGGAGCTTGGGAGAAGCAGGTTCCTCAGTCAGAGCTCCATGCTCTCCAATTTGGCTCTGGTCCCTGGGGCTCTCTCTAAAGACATGGAAGCCTTGAGGGCACCCCCAGCCCACCCCAGCCCACTCCAGCACCCCCATTAGCGTGTCATGGAGGAGGATCGCGAACTTCAGACTCACGAATCGTCCACGAAGCAGGGGTAGGGCATCTGCTGGAGGTAGATTCCAACTGGAGCCTCCGCCTGCACCTGGCTCCTTGTGATCCCCTGTTCAACCATGTCCTGCAGATAGGCAAACCCGCCCCAGATGTACCGGAAATCTTCCACGGGATCAGCTCTGGGACCAGAATCCCAATACCTGAGAAGACACAGAGGGACAAAGGATGGGAACGGGCTTGGATAGCTCACTCACACCTCCCGACCACAGGGTGACTCGGAACTCATTCTCTTAAAATCTTTCTCCTAAACGCTTCAAAAGGATCCAATTCTATTTCCTAGTCCTCAGTTTAAATCTCAGTTTTGAATATTAGCCACAATGTGACTCTGTAATTGCTTTCATTCAAGGACTCTTTGTTGAGCTTTATAAAATATCTTATTTTTTCTTATTTAACTTAATTTTATTGATTTATGAGTCCAGTCTCAATCCCTTTCTCTCTACCAAATGTAATTTCCCACTGACTTTGGAGAAATGCAGCGAGCCCTTCCTGAAACATCACCTGTCTTTAATCTTATTGGTTTTCTCCACCACGTCTATGTCCATTCGGATCTTATACTTCACGTGGGGTGGTAGAGAGCTGGTCCAGGGATACATGTCAGGGAATACCACTCCGGCCCAGAACATGTTTTCCTCCAGTAGAGAGAGGGCACGTTGGGTGAGCTGAGTTTCATCATTGTAGCTTTCAAACTTATCCAGGACCAAGCACTGCAGAGAGTCACAAAGTTGAGAGAGTGTGAGGAGGACCAACTGCAAAGACTCAACTCTACACACAGAAAGTCACAGGATAAGGGCTGCTGTCCCAGGAAATGGTCAAATGCAAGGAGGCCTATAAACTTAATGTTTGCTTAACTCCAGAGTCTGGTGTTAATTTTTCAACGTGTCCAGATGTAGGGGCGCCAGAGAGCTTGGAAGTGCTGACGTGCTCTTATCCCTGCAGAGCTAGTGAGGACCACACTTTCCAGATGTCCAAGGCTGTCCAAATATGCAAGTCTTCAAAATGACAAAAATACTCCAGGCTTTTACTCTCCAGCATGGGGAGGCGAGGGAGTGGGGTCACACTGGCTACAGCCTGCTTTGAAGATCAGAAAGCCTGACGATTAAAGAGCTTTAAAGAGAGAGAGAAACATTCCTAGCCTTGAACCTTTCTGGCTCTCTCCAAACACACAGGATGGCCAGCTGAGGGAAGAGCAAGGAGGAAGAGAGAAAATAACAGACAGCCAAAATAACTTAGTCAGGGAAATCACTTCCAATTACAATTCTGTGACAAGTAATGCTGGGGGAGGAGGAATTTCTATAATATGCCTCTTTTCTTCTCCTGGAAGAGGAAAAAAAAAAACCATTACCCACAAAAGAGCAGAACTAAGAATGTTTGAAAATTTGAATATGATGGTTGTCCTCCTGTATAGATTTGTTAAAGCACTTATATTGCTATTTGCATCTATTTCCTTTTCTTTAACCTCCTGTTCCTATCATTGTGAGGGCTATTGGTGTCGACATTTCTTTCTTAGCATGTAACTCACAAGAAGTCAGATGGTCTTGTCTTGATTAAGTTGTTCCCTGAATGCATACTGAGAATCTGCAATGTGCCAGAGCCTGGTCGACTCTAGGAATACAAGAAGGAAAGATAAACATCTCTTCCTGAAAGAAAGTTGAGAGCTAATGAGGGAGAGGATTGGAGCAAACCAACAACCATAATGTGGAAGGATCAGGTTCTAATGAAAGCAAGCCCAGTGTATTGGGGAAGCCCAGCGGAGGGACGCAGCTAAGTCTTCCTGGAGGGATCAGGGAAGGCTGCCTGGAGGAAGAGCCTCCTGAGTAGGAGGATAAGCAGGAATTAGCCGAGGAGAGGAAAGTGGGGGAAAGGTCAGCTCAGGCACAGGGAACAGCACATGAGGTATCTGGGGACCTACAAGAATAGATCAGTGGTTCCCATCTGTGGCTGTGCTTTAGAACCACTGCGGAGCTTTAAAAGATACCTATGCCAGGCCCTACCCCAAGCAATTAAATCAGAATCTC
TTACCATGATGAATATCGTCAGGAGGAAGATGCTCATCGACATGATGGAGAAGCTGTCCAGGAACCAGGTACACCAAATCACTGCATTGGAGACACCCTGATTTTTCAAGGTCTCCTTCAGTCGCAACTCCTTCTCCAAGACGATGCTCTTCACAGTCATGGAGACAGAGTAGATCCATGCCAGCACCATGAAGATAGGGAAACAGCGGTTCAGGATGATCATGAAACTAAAGCAAAAGGAGAGAAGCAGAATAGTAGAGTGCTCTGTACCTGGTAGAGGCAGAATAAATGTTTGTTGAATGAATGTGTTGAGAACAAAGCCCAGATGGAGGGAAAGGAAAACAGGAAAACCTCCCCTGGACATTTAATGGGCTGGAATCTTTTAACACATTCCATGTTAGCCCTGAAGCATTATTTTTTGTTTATAGCAGAGTGCTGGCTTTCTGGTTAGCCCGGGTGAATGCTCTGCAAGTAAAATGTGTCAATAAAATTATATCCTCTATGTCAAAGATCTTCCCTGTAAGGCCTTGCAAGGAAAAAACTGCAGACTTGATGATGTGGATGGGATCTGAGTAGACAGCTACATGCTGACACTGAAACCCAAGAGGGTGGAGGACTGACAAGGGCAAGTGGTGGTGGTAAGAGCAATAACTTGGCTCCCCAAGGGGTCAGCCGCCCCAGCACAGTCTGCCCTGGAAGGTCAAACCCTAGTTACACAAAAAGACACACAAAATAACTAATCAGTTTGGCACTTTCAGAAGGCGAATGATCCATCAATACATCAGTTATCCAACAGCCACTGGACCCACCACCAGCCATGCACAGGTGGAGGAGACCCTGGTATATCCACCTGGCAAACAGGATAGATTTGATACACTGGAACGACTTTCTTGTGAACTTTACACGTTTTCCCTGTGTTTCATGTGCTAGTAAAGCCCTTGGGATTATTATCTATTGAAAACTGTTGTGTGTTGTCACTGAAAGGGCCCAATTCCAGCATGGGAGGGTTTCACTCAAGGTGGCCCTAGGGAGAGAAGCATATGTTCGTAAAGCATGCACTTCTGGGACTAGCCACCAGAGGACTCTCCCATACCAAATGACCCAGCTCCCTATTGCCTCCCCACACCCACCTCACTTCCCCACCAGCCACTCCCGTCCTGATCCTAAAGTGGACCTGGGCTTTCGCCCCTGGCTCCATTTCCCAGCTCTGCCTATTGTCCGAACCCAAACTAACTGCAGACTGGCCACTGTTATCTCAAGTTTTCTGTAGAGCTGAGGCTGGAAAACCCATTGGACAGTTATTAAAAGAGGGTTTCCTGTGTCCACACTGAGTTTTAGGTGAACTCAATTGTAGATCTCTGCTGCTGTTTTGGTAGTGTGTCTGACCCCATCTATAATGACAAATGAGCCTCCCAACCCTCCACCCCGGCCCTTTCTCTACCACCCCCCAAATCCATATTCAGTCAAACAGTAGGCTGCTTGCTTGGCTTATTCCTGGTCAACAGATATACAGGCCTGGGATGGGAGTGTCCAGGGAGGCAGGTCCTGAGCTCATCCAACACATTCCTCTGCCTTGTCATTGAGCATACATCATGGAAATGTTAGTTAGGGAAGGGGCTGCATTATTCCAGGGCTCCCAGGAACCAGACCTACTGGCCATACAGAGTCCAAAATGAATGCTGATGTGGCAATCATTGGGCAAACATTCTGACCAGAACCCTTCCACATACCAAACATACTACATAGTGGGGAATTTGTCCCCTCCCCCAGCCTCACTTTCCTTGCTTTAATTTTCCCCTTCCCTTTTCCAGCTACAACATCAACTCTTTTCCCTTTCCCACCACTGCACTGACTCATCTGTGCCTGCCTGGAGCTTGGGAGAAGCAGGTTCCTCAGTCAGAGCTCCATGCTCTCCAATTTGGCTCTGGTCCCTGGGGCTCTCTCTAAAGACATGGAAGCCTTGAGGGCACCCCCAGCCCACCCCAGCCCACTCCAGCACCCCCATTAGCGTGTCATGGAGGAGGATCGCGAACTTCAGACTCACGAATTGTCCACGAAGCAGGGGTAGGGCATCTGCTGGAGGTAGATTCCAACTGGAGCCTCCGCCTGCACCTGGCTCCTTGTGATCCCCTGTTCAACCATGTCCTGCAGATAGGCAAACCCGCCCCAGATGTACCGGAAATCTTCCACGGGATCAGCTCTGGGACCAGAATCCCAATACCTGAGAAGACACAGAGGGACAAAGGATGGGAACGGGCTTGGATAGCTCACTCACACCTCCCGACCACAGGGTGACTCGGAACTCATTCTCTTAAAATCTTTCTCCTAAACGCTTCAAAAGGATCCAATTCTATTTCCTAGTCCTCAGTTTAAATCTCAGTTTTGAATATTAGCCACAATGTGACTCTGTAATTGCTTTCATTCAAGGACTCTTTGTTGAGCTTTATAAAATATCTTATTTTTTCTTATTTAACTTAATTTTATTGATTTATGAGTCCAGTCTCAATCCCTTTCTCTCTACCAAATGTAATTTCCCACTGACTTTGGAGAAATGCAGCGAGCCCTTCCTGAAACATCACCTGTCTTTAATCTTATTGGTTTTCTCCACCACGTCTATGTCCATTCGGATCTTATACTTCACGTGGGGTGGTAGAGAGCTGGTCCAGGGATACATGTCAGGGAATACCACTCCGGCCCAGAACATGTTTTCCTCCAGTAGAGAGAGGGCACGTTGGGTGAGCTGAGTTTCATCATTGTAGCTTTCAAACTTATCCAGGACCAAGCACTGCAGAGAGTCACAAAGTTGAGAGAGTGTGAGGAGGACCAACTGCAAAGACTCAACTCTACACACAGAAAGTCACAGGATAAGGGCTGCTGTCCCAGGAAATGGTCAAATGCAAGGAGGCCTATAAACTTAATGTTTGCTTAACTCCAGAGTCTGGTGTTAATTTTTCAACGTGTCCAGATGTAGGGGCGCCAGAGAGCTTGGAAGTGCTGACGTGCTCTTATCCCTGCAGAGCTAGTGAGGACCACACTTTCCAGATGTCCAAGGCTGTCCAAATATGCAAGTCTTCAAAATGACAAAAATACTCCAGGCTTTTACTCTCCAGCATGGGGAGGCGAGGGAGTGGGGTCACACTGGCTACAGCCTGCTTTGAAGATCAGAAAGCCTGACGATTAAAGAGCTTTAAAGAGAGAGAGAAACATTCCTAGCCTTGAACCTTTCTGGCTCTCTCCAAACACACAGGATGGCCAGCTGAGGGAAGAGCAAGGAGGAAGAGAGAAAATAACAGACAGCCAAAATAACTTAGTCAGGGAAATCACTTCCAATTACAATTCTGTGACAAGTAATGCTGGGGGAGGAGGAATTTCTATAATATGCCTCTTTTCTTCTCCTGGAAGAGGAAAAAAAAAAACCATTACCCACAAAAGAGCAGAACTAAGAATGTTTGAAAATTTGAATATGATGGTTGTCCTCCTGTATAGATTTGTTAAAGCACTTATATTGCTATTTGCATCTATTTCCTTTTCTTTAACCTCCTGTTCCTATCATTGTGAGGGCTATTGGTGTCGACATTTCTTTCTTAGCATGTAACTCACAAGAAGTCAGATGGTCTTGTCTTGATTAAGTTGTTCCCTGAATGCATACTGAGAATCTGCAATGTGCCAGAGCCTGGTCGACTCTAGGAATACAAGAAGGAAAGATAAACATCTCTTCCTGAAAGAAAGTTGAGAGCTAATGAGGGAGAGGATTGGAGCAAACCAACAACCATAATGTGGAAGGATCAGGTTCTAATGAAAGCAAGCCCAGTGTATTGGGGAAGCCCAGCGGAGGGACGCAGCTAAGTCTTCCTGGAGGGATCAGGGAAGGCTGCCTGGAGGAAGAGCCTCCTGAGTAGGAGGATAAGCAGGAATTAGCCGAGGAGAGGAAAGTGGGGGAAAGGTCAGCTCAGGCACAGGGAACAGCACATGAGGTATCTGGGGACCTACAAGAATAGATCAGTGGTTCCCATCTGTGGCTGTGCTTTAGAACCACTGCGGAGCTTTAAAAGATACCTATGCCAGGCCCTACCCCAAGCAATTAAATCAGAATCTC
Task1_train_1293
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.
Pathogenic; not provided
TGAATATCGTCAGGAGGAAGATGCTCATCGACATGATGGAGAAGCTGTCCAGGAACCAGGTACACCAAATCACTGCATTGGAGACACCCTGATTTTTCAAGGTCTCCTTCAGTCGCAACTCCTTCTCCAAGACGATGCTCTTCACAGTCATGGAGACAGAGTAGATCCATGCCAGCACCATGAAGATAGGGAAACAGCGGTTCAGGATGATCATGAAACTAAAGCAAAAGGAGAGAAGCAGAATAGTAGAGTGCTCTGTACCTGGTAGAGGCAGAATAAATGTTTGTTGAATGAATGTGTTGAGAACAAAGCCCAGATGGAGGGAAAGGAAAACAGGAAAACCTCCCCTGGACATTTAATGGGCTGGAATCTTTTAACACATTCCATGTTAGCCCTGAAGCATTATTTTTTGTTTATAGCAGAGTGCTGGCTTTCTGGTTAGCCCGGGTGAATGCTCTGCAAGTAAAATGTGTCAATAAAATTATATCCTCTATGTCAAAGATCTTCCCTGTAAGGCCTTGCAAGGAAAAAACTGCAGACTTGATGATGTGGATGGGATCTGAGTAGACAGCTACATGCTGACACTGAAACCCAAGAGGGTGGAGGACTGACAAGGGCAAGTGGTGGTGGTAAGAGCAATAACTTGGCTCCCCAAGGGGTCAGCCGCCCCAGCACAGTCTGCCCTGGAAGGTCAAACCCTAGTTACACAAAAAGACACACAAAATAACTAATCAGTTTGGCACTTTCAGAAGGCGAATGATCCATCAATACATCAGTTATCCAACAGCCACTGGACCCACCACCAGCCATGCACAGGTGGAGGAGACCCTGGTATATCCACCTGGCAAACAGGATAGATTTGATACACTGGAACGACTTTCTTGTGAACTTTACACGTTTTCCCTGTGTTTCATGTGCTAGTAAAGCCCTTGGGATTATTATCTATTGAAAACTGTTGTGTGTTGTCACTGAAAGGGCCCAATTCCAGCATGGGAGGGTTTCACTCAAGGTGGCCCTAGGGAGAGAAGCATATGTTCGTAAAGCATGCACTTCTGGGACTAGCCACCAGAGGACTCTCCCATACCAAATGACCCAGCTCCCTATTGCCTCCCCACACCCACCTCACTTCCCCACCAGCCACTCCCGTCCTGATCCTAAAGTGGACCTGGGCTTTCGCCCCTGGCTCCATTTCCCAGCTCTGCCTATTGTCCGAACCCAAACTAACTGCAGACTGGCCACTGTTATCTCAAGTTTTCTGTAGAGCTGAGGCTGGAAAACCCATTGGACAGTTATTAAAAGAGGGTTTCCTGTGTCCACACTGAGTTTTAGGTGAACTCAATTGTAGATCTCTGCTGCTGTTTTGGTAGTGTGTCTGACCCCATCTATAATGACAAATGAGCCTCCCAACCCTCCACCCCGGCCCTTTCTCTACCACCCCCCAAATCCATATTCAGTCAAACAGTAGGCTGCTTGCTTGGCTTATTCCTGGTCAACAGATATACAGGCCTGGGATGGGAGTGTCCAGGGAGGCAGGTCCTGAGCTCATCCAACACATTCCTCTGCCTTGTCATTGAGCATACATCATGGAAATGTTAGTTAGGGAAGGGGCTGCATTATTCCAGGGCTCCCAGGAACCAGACCTACTGGCCATACAGAGTCCAAAATGAATGCTGATGTGGCAATCATTGGGCAAACATTCTGACCAGAACCCTTCCACATACCAAACATACTACATAGTGGGGAATTTGTCCCCTCCCCCAGCCTCACTTTCCTTGCTTTAATTTTCCCCTTCCCTTTTCCAGCTACAACATCAACTCTTTTCCCTTTCCCACCACTGCACTGACTCATCTGTGCCTGCCTGGAGCTTGGGAGAAGCAGGTTCCTCAGTCAGAGCTCCATGCTCTCCAATTTGGCTCTGGTCCCTGGGGCTCTCTCTAAAGACATGGAAGCCTTGAGGGCACCCCCAGCCCACCCCAGCCCACTCCAGCACCCCCATTAGCGTGTCATGGAGGAGGATCGCGAACTTCAGACTCACGAATCGTCCACGAAGCAGGGGTAGGGCATCTGCTGGAGGTAGATTCCAACTGGAGCCTCCGCCTGCACCTGGCTCCTTGTGATCCCCTGTTCAACCATGTCCTGCAGATAGGCAAACCCGCCCCAGATGTACCGGAAATCTTCCACGGGATCAGCTCTGGGACCAGAATCCCAATACCTGAGAAGACACAGAGGGACAAAGGATGGGAACGGGCTTGGATAGCTCACTCACACCTCCCGACCACAGGGTGACTCGGAACTCATTCTCTTAAAATCTTTCTCCTAAACGCTTCAAAAGGATCCAATTCTATTTCCTAGTCCTCAGTTTAAATCTCAGTTTTGAATATTAGCCACAATGTGACTCTGTAATTGCTTTCATTCAAGGACTCTTTGTTGAGCTTTATAAAATATCTTATTTTTTCTTATTTAACTTAATTTTATTGATTTATGAGTCCAGTCTCAATCCCTTTCTCTCTACCAAATGTAATTTCCCACTGACTTTGGAGAAATGCAGCGAGCCCTTCCTGAAACATCACCTGTCTTTAATCTTATTGGTTTTCTCCACCACGTCTATGTCCATTCGGATCTTATACTTCACGTGGGGTGGTAGAGAGCTGGTCCAGGGATACATGTCAGGGAATACCACTCCGGCCCAGAACATGTTTTCCTCCAGTAGAGAGAGGGCACGTTGGGTGAGCTGAGTTTCATCATTGTAGCTTTCAAACTTATCCAGGACCAAGCACTGCAGAGAGTCACAAAGTTGAGAGAGTGTGAGGAGGACCAACTGCAAAGACTCAACTCTACACACAGAAAGTCACAGGATAAGGGCTGCTGTCCCAGGAAATGGTCAAATGCAAGGAGGCCTATAAACTTAATGTTTGCTTAACTCCAGAGTCTGGTGTTAATTTTTCAACGTGTCCAGATGTAGGGGCGCCAGAGAGCTTGGAAGTGCTGACGTGCTCTTATCCCTGCAGAGCTAGTGAGGACCACACTTTCCAGATGTCCAAGGCTGTCCAAATATGCAAGTCTTCAAAATGACAAAAATACTCCAGGCTTTTACTCTCCAGCATGGGGAGGCGAGGGAGTGGGGTCACACTGGCTACAGCCTGCTTTGAAGATCAGAAAGCCTGACGATTAAAGAGCTTTAAAGAGAGAGAGAAACATTCCTAGCCTTGAACCTTTCTGGCTCTCTCCAAACACACAGGATGGCCAGCTGAGGGAAGAGCAAGGAGGAAGAGAGAAAATAACAGACAGCCAAAATAACTTAGTCAGGGAAATCACTTCCAATTACAATTCTGTGACAAGTAATGCTGGGGGAGGAGGAATTTCTATAATATGCCTCTTTTCTTCTCCTGGAAGAGGAAAAAAAAAAACCATTACCCACAAAAGAGCAGAACTAAGAATGTTTGAAAATTTGAATATGATGGTTGTCCTCCTGTATAGATTTGTTAAAGCACTTATATTGCTATTTGCATCTATTTCCTTTTCTTTAACCTCCTGTTCCTATCATTGTGAGGGCTATTGGTGTCGACATTTCTTTCTTAGCATGTAACTCACAAGAAGTCAGATGGTCTTGTCTTGATTAAGTTGTTCCCTGAATGCATACTGAGAATCTGCAATGTGCCAGAGCCTGGTCGACTCTAGGAATACAAGAAGGAAAGATAAACATCTCTTCCTGAAAGAAAGTTGAGAGCTAATGAGGGAGAGGATTGGAGCAAACCAACAACCATAATGTGGAAGGATCAGGTTCTAATGAAAGCAAGCCCAGTGTATTGGGGAAGCCCAGCGGAGGGACGCAGCTAAGTCTTCCTGGAGGGATCAGGGAAGGCTGCCTGGAGGAAGAGCCTCCTGAGTAGGAGGATAAGCAGGAATTAGCCGAGGAGAGGAAAGTGGGGGAAAGGTCAGCTCAGGCACAGGGAACAGCACATGAGGTATCTGGGGACCTACAAGAATAGATCAGTGGTTCCCATCTGTGGCTGTGCTTTAGAACCACTGCGGAGCTTTAAAAGATACCTATGCCAGGCCCTACCCCAAGCAATTAAATCAGAATCTCTAGTGGCAG
TGAATATCGTCAGGAGGAAGATGCTCATCGACATGATGGAGAAGCTGTCCAGGAACCAGGTACACCAAATCACTGCATTGGAGACACCCTGATTTTTCAAGGTCTCCTTCAGTCGCAACTCCTTCTCCAAGACGATGCTCTTCACAGTCATGGAGACAGAGTAGATCCATGCCAGCACCATGAAGATAGGGAAACAGCGGTTCAGGATGATCATGAAACTAAAGCAAAAGGAGAGAAGCAGAATAGTAGAGTGCTCTGTACCTGGTAGAGGCAGAATAAATGTTTGTTGAATGAATGTGTTGAGAACAAAGCCCAGATGGAGGGAAAGGAAAACAGGAAAACCTCCCCTGGACATTTAATGGGCTGGAATCTTTTAACACATTCCATGTTAGCCCTGAAGCATTATTTTTTGTTTATAGCAGAGTGCTGGCTTTCTGGTTAGCCCGGGTGAATGCTCTGCAAGTAAAATGTGTCAATAAAATTATATCCTCTATGTCAAAGATCTTCCCTGTAAGGCCTTGCAAGGAAAAAACTGCAGACTTGATGATGTGGATGGGATCTGAGTAGACAGCTACATGCTGACACTGAAACCCAAGAGGGTGGAGGACTGACAAGGGCAAGTGGTGGTGGTAAGAGCAATAACTTGGCTCCCCAAGGGGTCAGCCGCCCCAGCACAGTCTGCCCTGGAAGGTCAAACCCTAGTTACACAAAAAGACACACAAAATAACTAATCAGTTTGGCACTTTCAGAAGGCGAATGATCCATCAATACATCAGTTATCCAACAGCCACTGGACCCACCACCAGCCATGCACAGGTGGAGGAGACCCTGGTATATCCACCTGGCAAACAGGATAGATTTGATACACTGGAACGACTTTCTTGTGAACTTTACACGTTTTCCCTGTGTTTCATGTGCTAGTAAAGCCCTTGGGATTATTATCTATTGAAAACTGTTGTGTGTTGTCACTGAAAGGGCCCAATTCCAGCATGGGAGGGTTTCACTCAAGGTGGCCCTAGGGAGAGAAGCATATGTTCGTAAAGCATGCACTTCTGGGACTAGCCACCAGAGGACTCTCCCATACCAAATGACCCAGCTCCCTATTGCCTCCCCACACCCACCTCACTTCCCCACCAGCCACTCCCGTCCTGATCCTAAAGTGGACCTGGGCTTTCGCCCCTGGCTCCATTTCCCAGCTCTGCCTATTGTCCGAACCCAAACTAACTGCAGACTGGCCACTGTTATCTCAAGTTTTCTGTAGAGCTGAGGCTGGAAAACCCATTGGACAGTTATTAAAAGAGGGTTTCCTGTGTCCACACTGAGTTTTAGGTGAACTCAATTGTAGATCTCTGCTGCTGTTTTGGTAGTGTGTCTGACCCCATCTATAATGACAAATGAGCCTCCCAACCCTCCACCCCGGCCCTTTCTCTACCACCCCCCAAATCCATATTCAGTCAAACAGTAGGCTGCTTGCTTGGCTTATTCCTGGTCAACAGATATACAGGCCTGGGATGGGAGTGTCCAGGGAGGCAGGTCCTGAGCTCATCCAACACATTCCTCTGCCTTGTCATTGAGCATACATCATGGAAATGTTAGTTAGGGAAGGGGCTGCATTATTCCAGGGCTCCCAGGAACCAGACCTACTGGCCATACAGAGTCCAAAATGAATGCTGATGTGGCAATCATTGGGCAAACATTCTGACCAGAACCCTTCCACATACCAAACATACTACATAGTGGGGAATTTGTCCCCTCCCCCAGCCTCACTTTCCTTGCTTTAATTTTCCCCTTCCCTTTTCCAGCTACAACATCAACTCTTTTCCCTTTCCCACCACTGCACTGACTCATCTGTGCCTGCCTGGAGCTTGGGAGAAGCAGGTTCCTCAGTCAGAGCTCCATGCTCTCCAATTTGGCTCTGGTCCCTGGGGCTCTCTCTAAAGACATGGAAGCCTTGAGGGCACCCCCAGCCCACCCCAGCCCACTCCAGCACCCCCATTAGCGTGTCATGGAGGAGGATCGCGAACTTCAGACTCACGAATCGTCCACGATGCAGGGGTAGGGCATCTGCTGGAGGTAGATTCCAACTGGAGCCTCCGCCTGCACCTGGCTCCTTGTGATCCCCTGTTCAACCATGTCCTGCAGATAGGCAAACCCGCCCCAGATGTACCGGAAATCTTCCACGGGATCAGCTCTGGGACCAGAATCCCAATACCTGAGAAGACACAGAGGGACAAAGGATGGGAACGGGCTTGGATAGCTCACTCACACCTCCCGACCACAGGGTGACTCGGAACTCATTCTCTTAAAATCTTTCTCCTAAACGCTTCAAAAGGATCCAATTCTATTTCCTAGTCCTCAGTTTAAATCTCAGTTTTGAATATTAGCCACAATGTGACTCTGTAATTGCTTTCATTCAAGGACTCTTTGTTGAGCTTTATAAAATATCTTATTTTTTCTTATTTAACTTAATTTTATTGATTTATGAGTCCAGTCTCAATCCCTTTCTCTCTACCAAATGTAATTTCCCACTGACTTTGGAGAAATGCAGCGAGCCCTTCCTGAAACATCACCTGTCTTTAATCTTATTGGTTTTCTCCACCACGTCTATGTCCATTCGGATCTTATACTTCACGTGGGGTGGTAGAGAGCTGGTCCAGGGATACATGTCAGGGAATACCACTCCGGCCCAGAACATGTTTTCCTCCAGTAGAGAGAGGGCACGTTGGGTGAGCTGAGTTTCATCATTGTAGCTTTCAAACTTATCCAGGACCAAGCACTGCAGAGAGTCACAAAGTTGAGAGAGTGTGAGGAGGACCAACTGCAAAGACTCAACTCTACACACAGAAAGTCACAGGATAAGGGCTGCTGTCCCAGGAAATGGTCAAATGCAAGGAGGCCTATAAACTTAATGTTTGCTTAACTCCAGAGTCTGGTGTTAATTTTTCAACGTGTCCAGATGTAGGGGCGCCAGAGAGCTTGGAAGTGCTGACGTGCTCTTATCCCTGCAGAGCTAGTGAGGACCACACTTTCCAGATGTCCAAGGCTGTCCAAATATGCAAGTCTTCAAAATGACAAAAATACTCCAGGCTTTTACTCTCCAGCATGGGGAGGCGAGGGAGTGGGGTCACACTGGCTACAGCCTGCTTTGAAGATCAGAAAGCCTGACGATTAAAGAGCTTTAAAGAGAGAGAGAAACATTCCTAGCCTTGAACCTTTCTGGCTCTCTCCAAACACACAGGATGGCCAGCTGAGGGAAGAGCAAGGAGGAAGAGAGAAAATAACAGACAGCCAAAATAACTTAGTCAGGGAAATCACTTCCAATTACAATTCTGTGACAAGTAATGCTGGGGGAGGAGGAATTTCTATAATATGCCTCTTTTCTTCTCCTGGAAGAGGAAAAAAAAAAACCATTACCCACAAAAGAGCAGAACTAAGAATGTTTGAAAATTTGAATATGATGGTTGTCCTCCTGTATAGATTTGTTAAAGCACTTATATTGCTATTTGCATCTATTTCCTTTTCTTTAACCTCCTGTTCCTATCATTGTGAGGGCTATTGGTGTCGACATTTCTTTCTTAGCATGTAACTCACAAGAAGTCAGATGGTCTTGTCTTGATTAAGTTGTTCCCTGAATGCATACTGAGAATCTGCAATGTGCCAGAGCCTGGTCGACTCTAGGAATACAAGAAGGAAAGATAAACATCTCTTCCTGAAAGAAAGTTGAGAGCTAATGAGGGAGAGGATTGGAGCAAACCAACAACCATAATGTGGAAGGATCAGGTTCTAATGAAAGCAAGCCCAGTGTATTGGGGAAGCCCAGCGGAGGGACGCAGCTAAGTCTTCCTGGAGGGATCAGGGAAGGCTGCCTGGAGGAAGAGCCTCCTGAGTAGGAGGATAAGCAGGAATTAGCCGAGGAGAGGAAAGTGGGGGAAAGGTCAGCTCAGGCACAGGGAACAGCACATGAGGTATCTGGGGACCTACAAGAATAGATCAGTGGTTCCCATCTGTGGCTGTGCTTTAGAACCACTGCGGAGCTTTAAAAGATACCTATGCCAGGCCCTACCCCAAGCAATTAAATCAGAATCTCTAGTGGCAG
Task1_train_1294
A variant on Chromosome 1 in gene ABCA4 (ATP binding cassette subfamily A member 4) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; not provided
AGGAGGAAGATGCTCATCGACATGATGGAGAAGCTGTCCAGGAACCAGGTACACCAAATCACTGCATTGGAGACACCCTGATTTTTCAAGGTCTCCTTCAGTCGCAACTCCTTCTCCAAGACGATGCTCTTCACAGTCATGGAGACAGAGTAGATCCATGCCAGCACCATGAAGATAGGGAAACAGCGGTTCAGGATGATCATGAAACTAAAGCAAAAGGAGAGAAGCAGAATAGTAGAGTGCTCTGTACCTGGTAGAGGCAGAATAAATGTTTGTTGAATGAATGTGTTGAGAACAAAGCCCAGATGGAGGGAAAGGAAAACAGGAAAACCTCCCCTGGACATTTAATGGGCTGGAATCTTTTAACACATTCCATGTTAGCCCTGAAGCATTATTTTTTGTTTATAGCAGAGTGCTGGCTTTCTGGTTAGCCCGGGTGAATGCTCTGCAAGTAAAATGTGTCAATAAAATTATATCCTCTATGTCAAAGATCTTCCCTGTAAGGCCTTGCAAGGAAAAAACTGCAGACTTGATGATGTGGATGGGATCTGAGTAGACAGCTACATGCTGACACTGAAACCCAAGAGGGTGGAGGACTGACAAGGGCAAGTGGTGGTGGTAAGAGCAATAACTTGGCTCCCCAAGGGGTCAGCCGCCCCAGCACAGTCTGCCCTGGAAGGTCAAACCCTAGTTACACAAAAAGACACACAAAATAACTAATCAGTTTGGCACTTTCAGAAGGCGAATGATCCATCAATACATCAGTTATCCAACAGCCACTGGACCCACCACCAGCCATGCACAGGTGGAGGAGACCCTGGTATATCCACCTGGCAAACAGGATAGATTTGATACACTGGAACGACTTTCTTGTGAACTTTACACGTTTTCCCTGTGTTTCATGTGCTAGTAAAGCCCTTGGGATTATTATCTATTGAAAACTGTTGTGTGTTGTCACTGAAAGGGCCCAATTCCAGCATGGGAGGGTTTCACTCAAGGTGGCCCTAGGGAGAGAAGCATATGTTCGTAAAGCATGCACTTCTGGGACTAGCCACCAGAGGACTCTCCCATACCAAATGACCCAGCTCCCTATTGCCTCCCCACACCCACCTCACTTCCCCACCAGCCACTCCCGTCCTGATCCTAAAGTGGACCTGGGCTTTCGCCCCTGGCTCCATTTCCCAGCTCTGCCTATTGTCCGAACCCAAACTAACTGCAGACTGGCCACTGTTATCTCAAGTTTTCTGTAGAGCTGAGGCTGGAAAACCCATTGGACAGTTATTAAAAGAGGGTTTCCTGTGTCCACACTGAGTTTTAGGTGAACTCAATTGTAGATCTCTGCTGCTGTTTTGGTAGTGTGTCTGACCCCATCTATAATGACAAATGAGCCTCCCAACCCTCCACCCCGGCCCTTTCTCTACCACCCCCCAAATCCATATTCAGTCAAACAGTAGGCTGCTTGCTTGGCTTATTCCTGGTCAACAGATATACAGGCCTGGGATGGGAGTGTCCAGGGAGGCAGGTCCTGAGCTCATCCAACACATTCCTCTGCCTTGTCATTGAGCATACATCATGGAAATGTTAGTTAGGGAAGGGGCTGCATTATTCCAGGGCTCCCAGGAACCAGACCTACTGGCCATACAGAGTCCAAAATGAATGCTGATGTGGCAATCATTGGGCAAACATTCTGACCAGAACCCTTCCACATACCAAACATACTACATAGTGGGGAATTTGTCCCCTCCCCCAGCCTCACTTTCCTTGCTTTAATTTTCCCCTTCCCTTTTCCAGCTACAACATCAACTCTTTTCCCTTTCCCACCACTGCACTGACTCATCTGTGCCTGCCTGGAGCTTGGGAGAAGCAGGTTCCTCAGTCAGAGCTCCATGCTCTCCAATTTGGCTCTGGTCCCTGGGGCTCTCTCTAAAGACATGGAAGCCTTGAGGGCACCCCCAGCCCACCCCAGCCCACTCCAGCACCCCCATTAGCGTGTCATGGAGGAGGATCGCGAACTTCAGACTCACGAATCGTCCACGAAGCAGGGGTAGGGCATCTGCTGGAGGTAGATTCCAACTGGAGCCTCCGCCTGCACCTGGCTCCTTGTGATCCCCTGTTCAACCATGTCCTGCAGATAGGCAAACCCGCCCCAGATGTACCGGAAATCTTCCACGGGATCAGCTCTGGGACCAGAATCCCAATACCTGAGAAGACACAGAGGGACAAAGGATGGGAACGGGCTTGGATAGCTCACTCACACCTCCCGACCACAGGGTGACTCGGAACTCATTCTCTTAAAATCTTTCTCCTAAACGCTTCAAAAGGATCCAATTCTATTTCCTAGTCCTCAGTTTAAATCTCAGTTTTGAATATTAGCCACAATGTGACTCTGTAATTGCTTTCATTCAAGGACTCTTTGTTGAGCTTTATAAAATATCTTATTTTTTCTTATTTAACTTAATTTTATTGATTTATGAGTCCAGTCTCAATCCCTTTCTCTCTACCAAATGTAATTTCCCACTGACTTTGGAGAAATGCAGCGAGCCCTTCCTGAAACATCACCTGTCTTTAATCTTATTGGTTTTCTCCACCACGTCTATGTCCATTCGGATCTTATACTTCACGTGGGGTGGTAGAGAGCTGGTCCAGGGATACATGTCAGGGAATACCACTCCGGCCCAGAACATGTTTTCCTCCAGTAGAGAGAGGGCACGTTGGGTGAGCTGAGTTTCATCATTGTAGCTTTCAAACTTATCCAGGACCAAGCACTGCAGAGAGTCACAAAGTTGAGAGAGTGTGAGGAGGACCAACTGCAAAGACTCAACTCTACACACAGAAAGTCACAGGATAAGGGCTGCTGTCCCAGGAAATGGTCAAATGCAAGGAGGCCTATAAACTTAATGTTTGCTTAACTCCAGAGTCTGGTGTTAATTTTTCAACGTGTCCAGATGTAGGGGCGCCAGAGAGCTTGGAAGTGCTGACGTGCTCTTATCCCTGCAGAGCTAGTGAGGACCACACTTTCCAGATGTCCAAGGCTGTCCAAATATGCAAGTCTTCAAAATGACAAAAATACTCCAGGCTTTTACTCTCCAGCATGGGGAGGCGAGGGAGTGGGGTCACACTGGCTACAGCCTGCTTTGAAGATCAGAAAGCCTGACGATTAAAGAGCTTTAAAGAGAGAGAGAAACATTCCTAGCCTTGAACCTTTCTGGCTCTCTCCAAACACACAGGATGGCCAGCTGAGGGAAGAGCAAGGAGGAAGAGAGAAAATAACAGACAGCCAAAATAACTTAGTCAGGGAAATCACTTCCAATTACAATTCTGTGACAAGTAATGCTGGGGGAGGAGGAATTTCTATAATATGCCTCTTTTCTTCTCCTGGAAGAGGAAAAAAAAAAACCATTACCCACAAAAGAGCAGAACTAAGAATGTTTGAAAATTTGAATATGATGGTTGTCCTCCTGTATAGATTTGTTAAAGCACTTATATTGCTATTTGCATCTATTTCCTTTTCTTTAACCTCCTGTTCCTATCATTGTGAGGGCTATTGGTGTCGACATTTCTTTCTTAGCATGTAACTCACAAGAAGTCAGATGGTCTTGTCTTGATTAAGTTGTTCCCTGAATGCATACTGAGAATCTGCAATGTGCCAGAGCCTGGTCGACTCTAGGAATACAAGAAGGAAAGATAAACATCTCTTCCTGAAAGAAAGTTGAGAGCTAATGAGGGAGAGGATTGGAGCAAACCAACAACCATAATGTGGAAGGATCAGGTTCTAATGAAAGCAAGCCCAGTGTATTGGGGAAGCCCAGCGGAGGGACGCAGCTAAGTCTTCCTGGAGGGATCAGGGAAGGCTGCCTGGAGGAAGAGCCTCCTGAGTAGGAGGATAAGCAGGAATTAGCCGAGGAGAGGAAAGTGGGGGAAAGGTCAGCTCAGGCACAGGGAACAGCACATGAGGTATCTGGGGACCTACAAGAATAGATCAGTGGTTCCCATCTGTGGCTGTGCTTTAGAACCACTGCGGAGCTTTAAAAGATACCTATGCCAGGCCCTACCCCAAGCAATTAAATCAGAATCTCTAGTGGCAGGGCCAGGGCAT
AGGAGGAAGATGCTCATCGACATGATGGAGAAGCTGTCCAGGAACCAGGTACACCAAATCACTGCATTGGAGACACCCTGATTTTTCAAGGTCTCCTTCAGTCGCAACTCCTTCTCCAAGACGATGCTCTTCACAGTCATGGAGACAGAGTAGATCCATGCCAGCACCATGAAGATAGGGAAACAGCGGTTCAGGATGATCATGAAACTAAAGCAAAAGGAGAGAAGCAGAATAGTAGAGTGCTCTGTACCTGGTAGAGGCAGAATAAATGTTTGTTGAATGAATGTGTTGAGAACAAAGCCCAGATGGAGGGAAAGGAAAACAGGAAAACCTCCCCTGGACATTTAATGGGCTGGAATCTTTTAACACATTCCATGTTAGCCCTGAAGCATTATTTTTTGTTTATAGCAGAGTGCTGGCTTTCTGGTTAGCCCGGGTGAATGCTCTGCAAGTAAAATGTGTCAATAAAATTATATCCTCTATGTCAAAGATCTTCCCTGTAAGGCCTTGCAAGGAAAAAACTGCAGACTTGATGATGTGGATGGGATCTGAGTAGACAGCTACATGCTGACACTGAAACCCAAGAGGGTGGAGGACTGACAAGGGCAAGTGGTGGTGGTAAGAGCAATAACTTGGCTCCCCAAGGGGTCAGCCGCCCCAGCACAGTCTGCCCTGGAAGGTCAAACCCTAGTTACACAAAAAGACACACAAAATAACTAATCAGTTTGGCACTTTCAGAAGGCGAATGATCCATCAATACATCAGTTATCCAACAGCCACTGGACCCACCACCAGCCATGCACAGGTGGAGGAGACCCTGGTATATCCACCTGGCAAACAGGATAGATTTGATACACTGGAACGACTTTCTTGTGAACTTTACACGTTTTCCCTGTGTTTCATGTGCTAGTAAAGCCCTTGGGATTATTATCTATTGAAAACTGTTGTGTGTTGTCACTGAAAGGGCCCAATTCCAGCATGGGAGGGTTTCACTCAAGGTGGCCCTAGGGAGAGAAGCATATGTTCGTAAAGCATGCACTTCTGGGACTAGCCACCAGAGGACTCTCCCATACCAAATGACCCAGCTCCCTATTGCCTCCCCACACCCACCTCACTTCCCCACCAGCCACTCCCGTCCTGATCCTAAAGTGGACCTGGGCTTTCGCCCCTGGCTCCATTTCCCAGCTCTGCCTATTGTCCGAACCCAAACTAACTGCAGACTGGCCACTGTTATCTCAAGTTTTCTGTAGAGCTGAGGCTGGAAAACCCATTGGACAGTTATTAAAAGAGGGTTTCCTGTGTCCACACTGAGTTTTAGGTGAACTCAATTGTAGATCTCTGCTGCTGTTTTGGTAGTGTGTCTGACCCCATCTATAATGACAAATGAGCCTCCCAACCCTCCACCCCGGCCCTTTCTCTACCACCCCCCAAATCCATATTCAGTCAAACAGTAGGCTGCTTGCTTGGCTTATTCCTGGTCAACAGATATACAGGCCTGGGATGGGAGTGTCCAGGGAGGCAGGTCCTGAGCTCATCCAACACATTCCTCTGCCTTGTCATTGAGCATACATCATGGAAATGTTAGTTAGGGAAGGGGCTGCATTATTCCAGGGCTCCCAGGAACCAGACCTACTGGCCATACAGAGTCCAAAATGAATGCTGATGTGGCAATCATTGGGCAAACATTCTGACCAGAACCCTTCCACATACCAAACATACTACATAGTGGGGAATTTGTCCCCTCCCCCAGCCTCACTTTCCTTGCTTTAATTTTCCCCTTCCCTTTTCCAGCTACAACATCAACTCTTTTCCCTTTCCCACCACTGCACTGACTCATCTGTGCCTGCCTGGAGCTTGGGAGAAGCAGGTTCCTCAGTCAGAGCTCCATGCTCTCCAATTTGGCTCTGGTCCCTGGGGCTCTCTCTAAAGACATGGAAGCCTTGAGGGCACCCCCAGCCCACCCCAGCCCACTCCAGCACCCCCATTAGCGTGTCATGGAGGAGGATCGCGAACTTCAGACTCACGAATCGTCCACGAAGCAGGGGTAGAGCATCTGCTGGAGGTAGATTCCAACTGGAGCCTCCGCCTGCACCTGGCTCCTTGTGATCCCCTGTTCAACCATGTCCTGCAGATAGGCAAACCCGCCCCAGATGTACCGGAAATCTTCCACGGGATCAGCTCTGGGACCAGAATCCCAATACCTGAGAAGACACAGAGGGACAAAGGATGGGAACGGGCTTGGATAGCTCACTCACACCTCCCGACCACAGGGTGACTCGGAACTCATTCTCTTAAAATCTTTCTCCTAAACGCTTCAAAAGGATCCAATTCTATTTCCTAGTCCTCAGTTTAAATCTCAGTTTTGAATATTAGCCACAATGTGACTCTGTAATTGCTTTCATTCAAGGACTCTTTGTTGAGCTTTATAAAATATCTTATTTTTTCTTATTTAACTTAATTTTATTGATTTATGAGTCCAGTCTCAATCCCTTTCTCTCTACCAAATGTAATTTCCCACTGACTTTGGAGAAATGCAGCGAGCCCTTCCTGAAACATCACCTGTCTTTAATCTTATTGGTTTTCTCCACCACGTCTATGTCCATTCGGATCTTATACTTCACGTGGGGTGGTAGAGAGCTGGTCCAGGGATACATGTCAGGGAATACCACTCCGGCCCAGAACATGTTTTCCTCCAGTAGAGAGAGGGCACGTTGGGTGAGCTGAGTTTCATCATTGTAGCTTTCAAACTTATCCAGGACCAAGCACTGCAGAGAGTCACAAAGTTGAGAGAGTGTGAGGAGGACCAACTGCAAAGACTCAACTCTACACACAGAAAGTCACAGGATAAGGGCTGCTGTCCCAGGAAATGGTCAAATGCAAGGAGGCCTATAAACTTAATGTTTGCTTAACTCCAGAGTCTGGTGTTAATTTTTCAACGTGTCCAGATGTAGGGGCGCCAGAGAGCTTGGAAGTGCTGACGTGCTCTTATCCCTGCAGAGCTAGTGAGGACCACACTTTCCAGATGTCCAAGGCTGTCCAAATATGCAAGTCTTCAAAATGACAAAAATACTCCAGGCTTTTACTCTCCAGCATGGGGAGGCGAGGGAGTGGGGTCACACTGGCTACAGCCTGCTTTGAAGATCAGAAAGCCTGACGATTAAAGAGCTTTAAAGAGAGAGAGAAACATTCCTAGCCTTGAACCTTTCTGGCTCTCTCCAAACACACAGGATGGCCAGCTGAGGGAAGAGCAAGGAGGAAGAGAGAAAATAACAGACAGCCAAAATAACTTAGTCAGGGAAATCACTTCCAATTACAATTCTGTGACAAGTAATGCTGGGGGAGGAGGAATTTCTATAATATGCCTCTTTTCTTCTCCTGGAAGAGGAAAAAAAAAAACCATTACCCACAAAAGAGCAGAACTAAGAATGTTTGAAAATTTGAATATGATGGTTGTCCTCCTGTATAGATTTGTTAAAGCACTTATATTGCTATTTGCATCTATTTCCTTTTCTTTAACCTCCTGTTCCTATCATTGTGAGGGCTATTGGTGTCGACATTTCTTTCTTAGCATGTAACTCACAAGAAGTCAGATGGTCTTGTCTTGATTAAGTTGTTCCCTGAATGCATACTGAGAATCTGCAATGTGCCAGAGCCTGGTCGACTCTAGGAATACAAGAAGGAAAGATAAACATCTCTTCCTGAAAGAAAGTTGAGAGCTAATGAGGGAGAGGATTGGAGCAAACCAACAACCATAATGTGGAAGGATCAGGTTCTAATGAAAGCAAGCCCAGTGTATTGGGGAAGCCCAGCGGAGGGACGCAGCTAAGTCTTCCTGGAGGGATCAGGGAAGGCTGCCTGGAGGAAGAGCCTCCTGAGTAGGAGGATAAGCAGGAATTAGCCGAGGAGAGGAAAGTGGGGGAAAGGTCAGCTCAGGCACAGGGAACAGCACATGAGGTATCTGGGGACCTACAAGAATAGATCAGTGGTTCCCATCTGTGGCTGTGCTTTAGAACCACTGCGGAGCTTTAAAAGATACCTATGCCAGGCCCTACCCCAAGCAATTAAATCAGAATCTCTAGTGGCAGGGCCAGGGCAT
Task1_train_1295
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.
Pathogenic; Isolated macular dystrophy
GGAGGAAGATGCTCATCGACATGATGGAGAAGCTGTCCAGGAACCAGGTACACCAAATCACTGCATTGGAGACACCCTGATTTTTCAAGGTCTCCTTCAGTCGCAACTCCTTCTCCAAGACGATGCTCTTCACAGTCATGGAGACAGAGTAGATCCATGCCAGCACCATGAAGATAGGGAAACAGCGGTTCAGGATGATCATGAAACTAAAGCAAAAGGAGAGAAGCAGAATAGTAGAGTGCTCTGTACCTGGTAGAGGCAGAATAAATGTTTGTTGAATGAATGTGTTGAGAACAAAGCCCAGATGGAGGGAAAGGAAAACAGGAAAACCTCCCCTGGACATTTAATGGGCTGGAATCTTTTAACACATTCCATGTTAGCCCTGAAGCATTATTTTTTGTTTATAGCAGAGTGCTGGCTTTCTGGTTAGCCCGGGTGAATGCTCTGCAAGTAAAATGTGTCAATAAAATTATATCCTCTATGTCAAAGATCTTCCCTGTAAGGCCTTGCAAGGAAAAAACTGCAGACTTGATGATGTGGATGGGATCTGAGTAGACAGCTACATGCTGACACTGAAACCCAAGAGGGTGGAGGACTGACAAGGGCAAGTGGTGGTGGTAAGAGCAATAACTTGGCTCCCCAAGGGGTCAGCCGCCCCAGCACAGTCTGCCCTGGAAGGTCAAACCCTAGTTACACAAAAAGACACACAAAATAACTAATCAGTTTGGCACTTTCAGAAGGCGAATGATCCATCAATACATCAGTTATCCAACAGCCACTGGACCCACCACCAGCCATGCACAGGTGGAGGAGACCCTGGTATATCCACCTGGCAAACAGGATAGATTTGATACACTGGAACGACTTTCTTGTGAACTTTACACGTTTTCCCTGTGTTTCATGTGCTAGTAAAGCCCTTGGGATTATTATCTATTGAAAACTGTTGTGTGTTGTCACTGAAAGGGCCCAATTCCAGCATGGGAGGGTTTCACTCAAGGTGGCCCTAGGGAGAGAAGCATATGTTCGTAAAGCATGCACTTCTGGGACTAGCCACCAGAGGACTCTCCCATACCAAATGACCCAGCTCCCTATTGCCTCCCCACACCCACCTCACTTCCCCACCAGCCACTCCCGTCCTGATCCTAAAGTGGACCTGGGCTTTCGCCCCTGGCTCCATTTCCCAGCTCTGCCTATTGTCCGAACCCAAACTAACTGCAGACTGGCCACTGTTATCTCAAGTTTTCTGTAGAGCTGAGGCTGGAAAACCCATTGGACAGTTATTAAAAGAGGGTTTCCTGTGTCCACACTGAGTTTTAGGTGAACTCAATTGTAGATCTCTGCTGCTGTTTTGGTAGTGTGTCTGACCCCATCTATAATGACAAATGAGCCTCCCAACCCTCCACCCCGGCCCTTTCTCTACCACCCCCCAAATCCATATTCAGTCAAACAGTAGGCTGCTTGCTTGGCTTATTCCTGGTCAACAGATATACAGGCCTGGGATGGGAGTGTCCAGGGAGGCAGGTCCTGAGCTCATCCAACACATTCCTCTGCCTTGTCATTGAGCATACATCATGGAAATGTTAGTTAGGGAAGGGGCTGCATTATTCCAGGGCTCCCAGGAACCAGACCTACTGGCCATACAGAGTCCAAAATGAATGCTGATGTGGCAATCATTGGGCAAACATTCTGACCAGAACCCTTCCACATACCAAACATACTACATAGTGGGGAATTTGTCCCCTCCCCCAGCCTCACTTTCCTTGCTTTAATTTTCCCCTTCCCTTTTCCAGCTACAACATCAACTCTTTTCCCTTTCCCACCACTGCACTGACTCATCTGTGCCTGCCTGGAGCTTGGGAGAAGCAGGTTCCTCAGTCAGAGCTCCATGCTCTCCAATTTGGCTCTGGTCCCTGGGGCTCTCTCTAAAGACATGGAAGCCTTGAGGGCACCCCCAGCCCACCCCAGCCCACTCCAGCACCCCCATTAGCGTGTCATGGAGGAGGATCGCGAACTTCAGACTCACGAATCGTCCACGAAGCAGGGGTAGGGCATCTGCTGGAGGTAGATTCCAACTGGAGCCTCCGCCTGCACCTGGCTCCTTGTGATCCCCTGTTCAACCATGTCCTGCAGATAGGCAAACCCGCCCCAGATGTACCGGAAATCTTCCACGGGATCAGCTCTGGGACCAGAATCCCAATACCTGAGAAGACACAGAGGGACAAAGGATGGGAACGGGCTTGGATAGCTCACTCACACCTCCCGACCACAGGGTGACTCGGAACTCATTCTCTTAAAATCTTTCTCCTAAACGCTTCAAAAGGATCCAATTCTATTTCCTAGTCCTCAGTTTAAATCTCAGTTTTGAATATTAGCCACAATGTGACTCTGTAATTGCTTTCATTCAAGGACTCTTTGTTGAGCTTTATAAAATATCTTATTTTTTCTTATTTAACTTAATTTTATTGATTTATGAGTCCAGTCTCAATCCCTTTCTCTCTACCAAATGTAATTTCCCACTGACTTTGGAGAAATGCAGCGAGCCCTTCCTGAAACATCACCTGTCTTTAATCTTATTGGTTTTCTCCACCACGTCTATGTCCATTCGGATCTTATACTTCACGTGGGGTGGTAGAGAGCTGGTCCAGGGATACATGTCAGGGAATACCACTCCGGCCCAGAACATGTTTTCCTCCAGTAGAGAGAGGGCACGTTGGGTGAGCTGAGTTTCATCATTGTAGCTTTCAAACTTATCCAGGACCAAGCACTGCAGAGAGTCACAAAGTTGAGAGAGTGTGAGGAGGACCAACTGCAAAGACTCAACTCTACACACAGAAAGTCACAGGATAAGGGCTGCTGTCCCAGGAAATGGTCAAATGCAAGGAGGCCTATAAACTTAATGTTTGCTTAACTCCAGAGTCTGGTGTTAATTTTTCAACGTGTCCAGATGTAGGGGCGCCAGAGAGCTTGGAAGTGCTGACGTGCTCTTATCCCTGCAGAGCTAGTGAGGACCACACTTTCCAGATGTCCAAGGCTGTCCAAATATGCAAGTCTTCAAAATGACAAAAATACTCCAGGCTTTTACTCTCCAGCATGGGGAGGCGAGGGAGTGGGGTCACACTGGCTACAGCCTGCTTTGAAGATCAGAAAGCCTGACGATTAAAGAGCTTTAAAGAGAGAGAGAAACATTCCTAGCCTTGAACCTTTCTGGCTCTCTCCAAACACACAGGATGGCCAGCTGAGGGAAGAGCAAGGAGGAAGAGAGAAAATAACAGACAGCCAAAATAACTTAGTCAGGGAAATCACTTCCAATTACAATTCTGTGACAAGTAATGCTGGGGGAGGAGGAATTTCTATAATATGCCTCTTTTCTTCTCCTGGAAGAGGAAAAAAAAAAACCATTACCCACAAAAGAGCAGAACTAAGAATGTTTGAAAATTTGAATATGATGGTTGTCCTCCTGTATAGATTTGTTAAAGCACTTATATTGCTATTTGCATCTATTTCCTTTTCTTTAACCTCCTGTTCCTATCATTGTGAGGGCTATTGGTGTCGACATTTCTTTCTTAGCATGTAACTCACAAGAAGTCAGATGGTCTTGTCTTGATTAAGTTGTTCCCTGAATGCATACTGAGAATCTGCAATGTGCCAGAGCCTGGTCGACTCTAGGAATACAAGAAGGAAAGATAAACATCTCTTCCTGAAAGAAAGTTGAGAGCTAATGAGGGAGAGGATTGGAGCAAACCAACAACCATAATGTGGAAGGATCAGGTTCTAATGAAAGCAAGCCCAGTGTATTGGGGAAGCCCAGCGGAGGGACGCAGCTAAGTCTTCCTGGAGGGATCAGGGAAGGCTGCCTGGAGGAAGAGCCTCCTGAGTAGGAGGATAAGCAGGAATTAGCCGAGGAGAGGAAAGTGGGGGAAAGGTCAGCTCAGGCACAGGGAACAGCACATGAGGTATCTGGGGACCTACAAGAATAGATCAGTGGTTCCCATCTGTGGCTGTGCTTTAGAACCACTGCGGAGCTTTAAAAGATACCTATGCCAGGCCCTACCCCAAGCAATTAAATCAGAATCTCTAGTGGCAGGGCCAGGGCATC
GGAGGAAGATGCTCATCGACATGATGGAGAAGCTGTCCAGGAACCAGGTACACCAAATCACTGCATTGGAGACACCCTGATTTTTCAAGGTCTCCTTCAGTCGCAACTCCTTCTCCAAGACGATGCTCTTCACAGTCATGGAGACAGAGTAGATCCATGCCAGCACCATGAAGATAGGGAAACAGCGGTTCAGGATGATCATGAAACTAAAGCAAAAGGAGAGAAGCAGAATAGTAGAGTGCTCTGTACCTGGTAGAGGCAGAATAAATGTTTGTTGAATGAATGTGTTGAGAACAAAGCCCAGATGGAGGGAAAGGAAAACAGGAAAACCTCCCCTGGACATTTAATGGGCTGGAATCTTTTAACACATTCCATGTTAGCCCTGAAGCATTATTTTTTGTTTATAGCAGAGTGCTGGCTTTCTGGTTAGCCCGGGTGAATGCTCTGCAAGTAAAATGTGTCAATAAAATTATATCCTCTATGTCAAAGATCTTCCCTGTAAGGCCTTGCAAGGAAAAAACTGCAGACTTGATGATGTGGATGGGATCTGAGTAGACAGCTACATGCTGACACTGAAACCCAAGAGGGTGGAGGACTGACAAGGGCAAGTGGTGGTGGTAAGAGCAATAACTTGGCTCCCCAAGGGGTCAGCCGCCCCAGCACAGTCTGCCCTGGAAGGTCAAACCCTAGTTACACAAAAAGACACACAAAATAACTAATCAGTTTGGCACTTTCAGAAGGCGAATGATCCATCAATACATCAGTTATCCAACAGCCACTGGACCCACCACCAGCCATGCACAGGTGGAGGAGACCCTGGTATATCCACCTGGCAAACAGGATAGATTTGATACACTGGAACGACTTTCTTGTGAACTTTACACGTTTTCCCTGTGTTTCATGTGCTAGTAAAGCCCTTGGGATTATTATCTATTGAAAACTGTTGTGTGTTGTCACTGAAAGGGCCCAATTCCAGCATGGGAGGGTTTCACTCAAGGTGGCCCTAGGGAGAGAAGCATATGTTCGTAAAGCATGCACTTCTGGGACTAGCCACCAGAGGACTCTCCCATACCAAATGACCCAGCTCCCTATTGCCTCCCCACACCCACCTCACTTCCCCACCAGCCACTCCCGTCCTGATCCTAAAGTGGACCTGGGCTTTCGCCCCTGGCTCCATTTCCCAGCTCTGCCTATTGTCCGAACCCAAACTAACTGCAGACTGGCCACTGTTATCTCAAGTTTTCTGTAGAGCTGAGGCTGGAAAACCCATTGGACAGTTATTAAAAGAGGGTTTCCTGTGTCCACACTGAGTTTTAGGTGAACTCAATTGTAGATCTCTGCTGCTGTTTTGGTAGTGTGTCTGACCCCATCTATAATGACAAATGAGCCTCCCAACCCTCCACCCCGGCCCTTTCTCTACCACCCCCCAAATCCATATTCAGTCAAACAGTAGGCTGCTTGCTTGGCTTATTCCTGGTCAACAGATATACAGGCCTGGGATGGGAGTGTCCAGGGAGGCAGGTCCTGAGCTCATCCAACACATTCCTCTGCCTTGTCATTGAGCATACATCATGGAAATGTTAGTTAGGGAAGGGGCTGCATTATTCCAGGGCTCCCAGGAACCAGACCTACTGGCCATACAGAGTCCAAAATGAATGCTGATGTGGCAATCATTGGGCAAACATTCTGACCAGAACCCTTCCACATACCAAACATACTACATAGTGGGGAATTTGTCCCCTCCCCCAGCCTCACTTTCCTTGCTTTAATTTTCCCCTTCCCTTTTCCAGCTACAACATCAACTCTTTTCCCTTTCCCACCACTGCACTGACTCATCTGTGCCTGCCTGGAGCTTGGGAGAAGCAGGTTCCTCAGTCAGAGCTCCATGCTCTCCAATTTGGCTCTGGTCCCTGGGGCTCTCTCTAAAGACATGGAAGCCTTGAGGGCACCCCCAGCCCACCCCAGCCCACTCCAGCACCCCCATTAGCGTGTCATGGAGGAGGATCGCGAACTTCAGACTCACGAATCGTCCACGAAGCAGGGGTAGGACATCTGCTGGAGGTAGATTCCAACTGGAGCCTCCGCCTGCACCTGGCTCCTTGTGATCCCCTGTTCAACCATGTCCTGCAGATAGGCAAACCCGCCCCAGATGTACCGGAAATCTTCCACGGGATCAGCTCTGGGACCAGAATCCCAATACCTGAGAAGACACAGAGGGACAAAGGATGGGAACGGGCTTGGATAGCTCACTCACACCTCCCGACCACAGGGTGACTCGGAACTCATTCTCTTAAAATCTTTCTCCTAAACGCTTCAAAAGGATCCAATTCTATTTCCTAGTCCTCAGTTTAAATCTCAGTTTTGAATATTAGCCACAATGTGACTCTGTAATTGCTTTCATTCAAGGACTCTTTGTTGAGCTTTATAAAATATCTTATTTTTTCTTATTTAACTTAATTTTATTGATTTATGAGTCCAGTCTCAATCCCTTTCTCTCTACCAAATGTAATTTCCCACTGACTTTGGAGAAATGCAGCGAGCCCTTCCTGAAACATCACCTGTCTTTAATCTTATTGGTTTTCTCCACCACGTCTATGTCCATTCGGATCTTATACTTCACGTGGGGTGGTAGAGAGCTGGTCCAGGGATACATGTCAGGGAATACCACTCCGGCCCAGAACATGTTTTCCTCCAGTAGAGAGAGGGCACGTTGGGTGAGCTGAGTTTCATCATTGTAGCTTTCAAACTTATCCAGGACCAAGCACTGCAGAGAGTCACAAAGTTGAGAGAGTGTGAGGAGGACCAACTGCAAAGACTCAACTCTACACACAGAAAGTCACAGGATAAGGGCTGCTGTCCCAGGAAATGGTCAAATGCAAGGAGGCCTATAAACTTAATGTTTGCTTAACTCCAGAGTCTGGTGTTAATTTTTCAACGTGTCCAGATGTAGGGGCGCCAGAGAGCTTGGAAGTGCTGACGTGCTCTTATCCCTGCAGAGCTAGTGAGGACCACACTTTCCAGATGTCCAAGGCTGTCCAAATATGCAAGTCTTCAAAATGACAAAAATACTCCAGGCTTTTACTCTCCAGCATGGGGAGGCGAGGGAGTGGGGTCACACTGGCTACAGCCTGCTTTGAAGATCAGAAAGCCTGACGATTAAAGAGCTTTAAAGAGAGAGAGAAACATTCCTAGCCTTGAACCTTTCTGGCTCTCTCCAAACACACAGGATGGCCAGCTGAGGGAAGAGCAAGGAGGAAGAGAGAAAATAACAGACAGCCAAAATAACTTAGTCAGGGAAATCACTTCCAATTACAATTCTGTGACAAGTAATGCTGGGGGAGGAGGAATTTCTATAATATGCCTCTTTTCTTCTCCTGGAAGAGGAAAAAAAAAAACCATTACCCACAAAAGAGCAGAACTAAGAATGTTTGAAAATTTGAATATGATGGTTGTCCTCCTGTATAGATTTGTTAAAGCACTTATATTGCTATTTGCATCTATTTCCTTTTCTTTAACCTCCTGTTCCTATCATTGTGAGGGCTATTGGTGTCGACATTTCTTTCTTAGCATGTAACTCACAAGAAGTCAGATGGTCTTGTCTTGATTAAGTTGTTCCCTGAATGCATACTGAGAATCTGCAATGTGCCAGAGCCTGGTCGACTCTAGGAATACAAGAAGGAAAGATAAACATCTCTTCCTGAAAGAAAGTTGAGAGCTAATGAGGGAGAGGATTGGAGCAAACCAACAACCATAATGTGGAAGGATCAGGTTCTAATGAAAGCAAGCCCAGTGTATTGGGGAAGCCCAGCGGAGGGACGCAGCTAAGTCTTCCTGGAGGGATCAGGGAAGGCTGCCTGGAGGAAGAGCCTCCTGAGTAGGAGGATAAGCAGGAATTAGCCGAGGAGAGGAAAGTGGGGGAAAGGTCAGCTCAGGCACAGGGAACAGCACATGAGGTATCTGGGGACCTACAAGAATAGATCAGTGGTTCCCATCTGTGGCTGTGCTTTAGAACCACTGCGGAGCTTTAAAAGATACCTATGCCAGGCCCTACCCCAAGCAATTAAATCAGAATCTCTAGTGGCAGGGCCAGGGCATC
Task1_train_1296
A mutation in ABCA4 (ATP binding cassette subfamily A member 4), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; not provided
GAAGATGCTCATCGACATGATGGAGAAGCTGTCCAGGAACCAGGTACACCAAATCACTGCATTGGAGACACCCTGATTTTTCAAGGTCTCCTTCAGTCGCAACTCCTTCTCCAAGACGATGCTCTTCACAGTCATGGAGACAGAGTAGATCCATGCCAGCACCATGAAGATAGGGAAACAGCGGTTCAGGATGATCATGAAACTAAAGCAAAAGGAGAGAAGCAGAATAGTAGAGTGCTCTGTACCTGGTAGAGGCAGAATAAATGTTTGTTGAATGAATGTGTTGAGAACAAAGCCCAGATGGAGGGAAAGGAAAACAGGAAAACCTCCCCTGGACATTTAATGGGCTGGAATCTTTTAACACATTCCATGTTAGCCCTGAAGCATTATTTTTTGTTTATAGCAGAGTGCTGGCTTTCTGGTTAGCCCGGGTGAATGCTCTGCAAGTAAAATGTGTCAATAAAATTATATCCTCTATGTCAAAGATCTTCCCTGTAAGGCCTTGCAAGGAAAAAACTGCAGACTTGATGATGTGGATGGGATCTGAGTAGACAGCTACATGCTGACACTGAAACCCAAGAGGGTGGAGGACTGACAAGGGCAAGTGGTGGTGGTAAGAGCAATAACTTGGCTCCCCAAGGGGTCAGCCGCCCCAGCACAGTCTGCCCTGGAAGGTCAAACCCTAGTTACACAAAAAGACACACAAAATAACTAATCAGTTTGGCACTTTCAGAAGGCGAATGATCCATCAATACATCAGTTATCCAACAGCCACTGGACCCACCACCAGCCATGCACAGGTGGAGGAGACCCTGGTATATCCACCTGGCAAACAGGATAGATTTGATACACTGGAACGACTTTCTTGTGAACTTTACACGTTTTCCCTGTGTTTCATGTGCTAGTAAAGCCCTTGGGATTATTATCTATTGAAAACTGTTGTGTGTTGTCACTGAAAGGGCCCAATTCCAGCATGGGAGGGTTTCACTCAAGGTGGCCCTAGGGAGAGAAGCATATGTTCGTAAAGCATGCACTTCTGGGACTAGCCACCAGAGGACTCTCCCATACCAAATGACCCAGCTCCCTATTGCCTCCCCACACCCACCTCACTTCCCCACCAGCCACTCCCGTCCTGATCCTAAAGTGGACCTGGGCTTTCGCCCCTGGCTCCATTTCCCAGCTCTGCCTATTGTCCGAACCCAAACTAACTGCAGACTGGCCACTGTTATCTCAAGTTTTCTGTAGAGCTGAGGCTGGAAAACCCATTGGACAGTTATTAAAAGAGGGTTTCCTGTGTCCACACTGAGTTTTAGGTGAACTCAATTGTAGATCTCTGCTGCTGTTTTGGTAGTGTGTCTGACCCCATCTATAATGACAAATGAGCCTCCCAACCCTCCACCCCGGCCCTTTCTCTACCACCCCCCAAATCCATATTCAGTCAAACAGTAGGCTGCTTGCTTGGCTTATTCCTGGTCAACAGATATACAGGCCTGGGATGGGAGTGTCCAGGGAGGCAGGTCCTGAGCTCATCCAACACATTCCTCTGCCTTGTCATTGAGCATACATCATGGAAATGTTAGTTAGGGAAGGGGCTGCATTATTCCAGGGCTCCCAGGAACCAGACCTACTGGCCATACAGAGTCCAAAATGAATGCTGATGTGGCAATCATTGGGCAAACATTCTGACCAGAACCCTTCCACATACCAAACATACTACATAGTGGGGAATTTGTCCCCTCCCCCAGCCTCACTTTCCTTGCTTTAATTTTCCCCTTCCCTTTTCCAGCTACAACATCAACTCTTTTCCCTTTCCCACCACTGCACTGACTCATCTGTGCCTGCCTGGAGCTTGGGAGAAGCAGGTTCCTCAGTCAGAGCTCCATGCTCTCCAATTTGGCTCTGGTCCCTGGGGCTCTCTCTAAAGACATGGAAGCCTTGAGGGCACCCCCAGCCCACCCCAGCCCACTCCAGCACCCCCATTAGCGTGTCATGGAGGAGGATCGCGAACTTCAGACTCACGAATCGTCCACGAAGCAGGGGTAGGGCATCTGCTGGAGGTAGATTCCAACTGGAGCCTCCGCCTGCACCTGGCTCCTTGTGATCCCCTGTTCAACCATGTCCTGCAGATAGGCAAACCCGCCCCAGATGTACCGGAAATCTTCCACGGGATCAGCTCTGGGACCAGAATCCCAATACCTGAGAAGACACAGAGGGACAAAGGATGGGAACGGGCTTGGATAGCTCACTCACACCTCCCGACCACAGGGTGACTCGGAACTCATTCTCTTAAAATCTTTCTCCTAAACGCTTCAAAAGGATCCAATTCTATTTCCTAGTCCTCAGTTTAAATCTCAGTTTTGAATATTAGCCACAATGTGACTCTGTAATTGCTTTCATTCAAGGACTCTTTGTTGAGCTTTATAAAATATCTTATTTTTTCTTATTTAACTTAATTTTATTGATTTATGAGTCCAGTCTCAATCCCTTTCTCTCTACCAAATGTAATTTCCCACTGACTTTGGAGAAATGCAGCGAGCCCTTCCTGAAACATCACCTGTCTTTAATCTTATTGGTTTTCTCCACCACGTCTATGTCCATTCGGATCTTATACTTCACGTGGGGTGGTAGAGAGCTGGTCCAGGGATACATGTCAGGGAATACCACTCCGGCCCAGAACATGTTTTCCTCCAGTAGAGAGAGGGCACGTTGGGTGAGCTGAGTTTCATCATTGTAGCTTTCAAACTTATCCAGGACCAAGCACTGCAGAGAGTCACAAAGTTGAGAGAGTGTGAGGAGGACCAACTGCAAAGACTCAACTCTACACACAGAAAGTCACAGGATAAGGGCTGCTGTCCCAGGAAATGGTCAAATGCAAGGAGGCCTATAAACTTAATGTTTGCTTAACTCCAGAGTCTGGTGTTAATTTTTCAACGTGTCCAGATGTAGGGGCGCCAGAGAGCTTGGAAGTGCTGACGTGCTCTTATCCCTGCAGAGCTAGTGAGGACCACACTTTCCAGATGTCCAAGGCTGTCCAAATATGCAAGTCTTCAAAATGACAAAAATACTCCAGGCTTTTACTCTCCAGCATGGGGAGGCGAGGGAGTGGGGTCACACTGGCTACAGCCTGCTTTGAAGATCAGAAAGCCTGACGATTAAAGAGCTTTAAAGAGAGAGAGAAACATTCCTAGCCTTGAACCTTTCTGGCTCTCTCCAAACACACAGGATGGCCAGCTGAGGGAAGAGCAAGGAGGAAGAGAGAAAATAACAGACAGCCAAAATAACTTAGTCAGGGAAATCACTTCCAATTACAATTCTGTGACAAGTAATGCTGGGGGAGGAGGAATTTCTATAATATGCCTCTTTTCTTCTCCTGGAAGAGGAAAAAAAAAAACCATTACCCACAAAAGAGCAGAACTAAGAATGTTTGAAAATTTGAATATGATGGTTGTCCTCCTGTATAGATTTGTTAAAGCACTTATATTGCTATTTGCATCTATTTCCTTTTCTTTAACCTCCTGTTCCTATCATTGTGAGGGCTATTGGTGTCGACATTTCTTTCTTAGCATGTAACTCACAAGAAGTCAGATGGTCTTGTCTTGATTAAGTTGTTCCCTGAATGCATACTGAGAATCTGCAATGTGCCAGAGCCTGGTCGACTCTAGGAATACAAGAAGGAAAGATAAACATCTCTTCCTGAAAGAAAGTTGAGAGCTAATGAGGGAGAGGATTGGAGCAAACCAACAACCATAATGTGGAAGGATCAGGTTCTAATGAAAGCAAGCCCAGTGTATTGGGGAAGCCCAGCGGAGGGACGCAGCTAAGTCTTCCTGGAGGGATCAGGGAAGGCTGCCTGGAGGAAGAGCCTCCTGAGTAGGAGGATAAGCAGGAATTAGCCGAGGAGAGGAAAGTGGGGGAAAGGTCAGCTCAGGCACAGGGAACAGCACATGAGGTATCTGGGGACCTACAAGAATAGATCAGTGGTTCCCATCTGTGGCTGTGCTTTAGAACCACTGCGGAGCTTTAAAAGATACCTATGCCAGGCCCTACCCCAAGCAATTAAATCAGAATCTCTAGTGGCAGGGCCAGGGCATCCATA
GAAGATGCTCATCGACATGATGGAGAAGCTGTCCAGGAACCAGGTACACCAAATCACTGCATTGGAGACACCCTGATTTTTCAAGGTCTCCTTCAGTCGCAACTCCTTCTCCAAGACGATGCTCTTCACAGTCATGGAGACAGAGTAGATCCATGCCAGCACCATGAAGATAGGGAAACAGCGGTTCAGGATGATCATGAAACTAAAGCAAAAGGAGAGAAGCAGAATAGTAGAGTGCTCTGTACCTGGTAGAGGCAGAATAAATGTTTGTTGAATGAATGTGTTGAGAACAAAGCCCAGATGGAGGGAAAGGAAAACAGGAAAACCTCCCCTGGACATTTAATGGGCTGGAATCTTTTAACACATTCCATGTTAGCCCTGAAGCATTATTTTTTGTTTATAGCAGAGTGCTGGCTTTCTGGTTAGCCCGGGTGAATGCTCTGCAAGTAAAATGTGTCAATAAAATTATATCCTCTATGTCAAAGATCTTCCCTGTAAGGCCTTGCAAGGAAAAAACTGCAGACTTGATGATGTGGATGGGATCTGAGTAGACAGCTACATGCTGACACTGAAACCCAAGAGGGTGGAGGACTGACAAGGGCAAGTGGTGGTGGTAAGAGCAATAACTTGGCTCCCCAAGGGGTCAGCCGCCCCAGCACAGTCTGCCCTGGAAGGTCAAACCCTAGTTACACAAAAAGACACACAAAATAACTAATCAGTTTGGCACTTTCAGAAGGCGAATGATCCATCAATACATCAGTTATCCAACAGCCACTGGACCCACCACCAGCCATGCACAGGTGGAGGAGACCCTGGTATATCCACCTGGCAAACAGGATAGATTTGATACACTGGAACGACTTTCTTGTGAACTTTACACGTTTTCCCTGTGTTTCATGTGCTAGTAAAGCCCTTGGGATTATTATCTATTGAAAACTGTTGTGTGTTGTCACTGAAAGGGCCCAATTCCAGCATGGGAGGGTTTCACTCAAGGTGGCCCTAGGGAGAGAAGCATATGTTCGTAAAGCATGCACTTCTGGGACTAGCCACCAGAGGACTCTCCCATACCAAATGACCCAGCTCCCTATTGCCTCCCCACACCCACCTCACTTCCCCACCAGCCACTCCCGTCCTGATCCTAAAGTGGACCTGGGCTTTCGCCCCTGGCTCCATTTCCCAGCTCTGCCTATTGTCCGAACCCAAACTAACTGCAGACTGGCCACTGTTATCTCAAGTTTTCTGTAGAGCTGAGGCTGGAAAACCCATTGGACAGTTATTAAAAGAGGGTTTCCTGTGTCCACACTGAGTTTTAGGTGAACTCAATTGTAGATCTCTGCTGCTGTTTTGGTAGTGTGTCTGACCCCATCTATAATGACAAATGAGCCTCCCAACCCTCCACCCCGGCCCTTTCTCTACCACCCCCCAAATCCATATTCAGTCAAACAGTAGGCTGCTTGCTTGGCTTATTCCTGGTCAACAGATATACAGGCCTGGGATGGGAGTGTCCAGGGAGGCAGGTCCTGAGCTCATCCAACACATTCCTCTGCCTTGTCATTGAGCATACATCATGGAAATGTTAGTTAGGGAAGGGGCTGCATTATTCCAGGGCTCCCAGGAACCAGACCTACTGGCCATACAGAGTCCAAAATGAATGCTGATGTGGCAATCATTGGGCAAACATTCTGACCAGAACCCTTCCACATACCAAACATACTACATAGTGGGGAATTTGTCCCCTCCCCCAGCCTCACTTTCCTTGCTTTAATTTTCCCCTTCCCTTTTCCAGCTACAACATCAACTCTTTTCCCTTTCCCACCACTGCACTGACTCATCTGTGCCTGCCTGGAGCTTGGGAGAAGCAGGTTCCTCAGTCAGAGCTCCATGCTCTCCAATTTGGCTCTGGTCCCTGGGGCTCTCTCTAAAGACATGGAAGCCTTGAGGGCACCCCCAGCCCACCCCAGCCCACTCCAGCACCCCCATTAGCGTGTCATGGAGGAGGATCGCGAACTTCAGACTCACGAATCGTCCACGAAGCAGGGGTAGGGCATATGCTGGAGGTAGATTCCAACTGGAGCCTCCGCCTGCACCTGGCTCCTTGTGATCCCCTGTTCAACCATGTCCTGCAGATAGGCAAACCCGCCCCAGATGTACCGGAAATCTTCCACGGGATCAGCTCTGGGACCAGAATCCCAATACCTGAGAAGACACAGAGGGACAAAGGATGGGAACGGGCTTGGATAGCTCACTCACACCTCCCGACCACAGGGTGACTCGGAACTCATTCTCTTAAAATCTTTCTCCTAAACGCTTCAAAAGGATCCAATTCTATTTCCTAGTCCTCAGTTTAAATCTCAGTTTTGAATATTAGCCACAATGTGACTCTGTAATTGCTTTCATTCAAGGACTCTTTGTTGAGCTTTATAAAATATCTTATTTTTTCTTATTTAACTTAATTTTATTGATTTATGAGTCCAGTCTCAATCCCTTTCTCTCTACCAAATGTAATTTCCCACTGACTTTGGAGAAATGCAGCGAGCCCTTCCTGAAACATCACCTGTCTTTAATCTTATTGGTTTTCTCCACCACGTCTATGTCCATTCGGATCTTATACTTCACGTGGGGTGGTAGAGAGCTGGTCCAGGGATACATGTCAGGGAATACCACTCCGGCCCAGAACATGTTTTCCTCCAGTAGAGAGAGGGCACGTTGGGTGAGCTGAGTTTCATCATTGTAGCTTTCAAACTTATCCAGGACCAAGCACTGCAGAGAGTCACAAAGTTGAGAGAGTGTGAGGAGGACCAACTGCAAAGACTCAACTCTACACACAGAAAGTCACAGGATAAGGGCTGCTGTCCCAGGAAATGGTCAAATGCAAGGAGGCCTATAAACTTAATGTTTGCTTAACTCCAGAGTCTGGTGTTAATTTTTCAACGTGTCCAGATGTAGGGGCGCCAGAGAGCTTGGAAGTGCTGACGTGCTCTTATCCCTGCAGAGCTAGTGAGGACCACACTTTCCAGATGTCCAAGGCTGTCCAAATATGCAAGTCTTCAAAATGACAAAAATACTCCAGGCTTTTACTCTCCAGCATGGGGAGGCGAGGGAGTGGGGTCACACTGGCTACAGCCTGCTTTGAAGATCAGAAAGCCTGACGATTAAAGAGCTTTAAAGAGAGAGAGAAACATTCCTAGCCTTGAACCTTTCTGGCTCTCTCCAAACACACAGGATGGCCAGCTGAGGGAAGAGCAAGGAGGAAGAGAGAAAATAACAGACAGCCAAAATAACTTAGTCAGGGAAATCACTTCCAATTACAATTCTGTGACAAGTAATGCTGGGGGAGGAGGAATTTCTATAATATGCCTCTTTTCTTCTCCTGGAAGAGGAAAAAAAAAAACCATTACCCACAAAAGAGCAGAACTAAGAATGTTTGAAAATTTGAATATGATGGTTGTCCTCCTGTATAGATTTGTTAAAGCACTTATATTGCTATTTGCATCTATTTCCTTTTCTTTAACCTCCTGTTCCTATCATTGTGAGGGCTATTGGTGTCGACATTTCTTTCTTAGCATGTAACTCACAAGAAGTCAGATGGTCTTGTCTTGATTAAGTTGTTCCCTGAATGCATACTGAGAATCTGCAATGTGCCAGAGCCTGGTCGACTCTAGGAATACAAGAAGGAAAGATAAACATCTCTTCCTGAAAGAAAGTTGAGAGCTAATGAGGGAGAGGATTGGAGCAAACCAACAACCATAATGTGGAAGGATCAGGTTCTAATGAAAGCAAGCCCAGTGTATTGGGGAAGCCCAGCGGAGGGACGCAGCTAAGTCTTCCTGGAGGGATCAGGGAAGGCTGCCTGGAGGAAGAGCCTCCTGAGTAGGAGGATAAGCAGGAATTAGCCGAGGAGAGGAAAGTGGGGGAAAGGTCAGCTCAGGCACAGGGAACAGCACATGAGGTATCTGGGGACCTACAAGAATAGATCAGTGGTTCCCATCTGTGGCTGTGCTTTAGAACCACTGCGGAGCTTTAAAAGATACCTATGCCAGGCCCTACCCCAAGCAATTAAATCAGAATCTCTAGTGGCAGGGCCAGGGCATCCATA
Task1_train_1297
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?
Pathogenic; Cone-rod dystrophy 3
AGATGCTCATCGACATGATGGAGAAGCTGTCCAGGAACCAGGTACACCAAATCACTGCATTGGAGACACCCTGATTTTTCAAGGTCTCCTTCAGTCGCAACTCCTTCTCCAAGACGATGCTCTTCACAGTCATGGAGACAGAGTAGATCCATGCCAGCACCATGAAGATAGGGAAACAGCGGTTCAGGATGATCATGAAACTAAAGCAAAAGGAGAGAAGCAGAATAGTAGAGTGCTCTGTACCTGGTAGAGGCAGAATAAATGTTTGTTGAATGAATGTGTTGAGAACAAAGCCCAGATGGAGGGAAAGGAAAACAGGAAAACCTCCCCTGGACATTTAATGGGCTGGAATCTTTTAACACATTCCATGTTAGCCCTGAAGCATTATTTTTTGTTTATAGCAGAGTGCTGGCTTTCTGGTTAGCCCGGGTGAATGCTCTGCAAGTAAAATGTGTCAATAAAATTATATCCTCTATGTCAAAGATCTTCCCTGTAAGGCCTTGCAAGGAAAAAACTGCAGACTTGATGATGTGGATGGGATCTGAGTAGACAGCTACATGCTGACACTGAAACCCAAGAGGGTGGAGGACTGACAAGGGCAAGTGGTGGTGGTAAGAGCAATAACTTGGCTCCCCAAGGGGTCAGCCGCCCCAGCACAGTCTGCCCTGGAAGGTCAAACCCTAGTTACACAAAAAGACACACAAAATAACTAATCAGTTTGGCACTTTCAGAAGGCGAATGATCCATCAATACATCAGTTATCCAACAGCCACTGGACCCACCACCAGCCATGCACAGGTGGAGGAGACCCTGGTATATCCACCTGGCAAACAGGATAGATTTGATACACTGGAACGACTTTCTTGTGAACTTTACACGTTTTCCCTGTGTTTCATGTGCTAGTAAAGCCCTTGGGATTATTATCTATTGAAAACTGTTGTGTGTTGTCACTGAAAGGGCCCAATTCCAGCATGGGAGGGTTTCACTCAAGGTGGCCCTAGGGAGAGAAGCATATGTTCGTAAAGCATGCACTTCTGGGACTAGCCACCAGAGGACTCTCCCATACCAAATGACCCAGCTCCCTATTGCCTCCCCACACCCACCTCACTTCCCCACCAGCCACTCCCGTCCTGATCCTAAAGTGGACCTGGGCTTTCGCCCCTGGCTCCATTTCCCAGCTCTGCCTATTGTCCGAACCCAAACTAACTGCAGACTGGCCACTGTTATCTCAAGTTTTCTGTAGAGCTGAGGCTGGAAAACCCATTGGACAGTTATTAAAAGAGGGTTTCCTGTGTCCACACTGAGTTTTAGGTGAACTCAATTGTAGATCTCTGCTGCTGTTTTGGTAGTGTGTCTGACCCCATCTATAATGACAAATGAGCCTCCCAACCCTCCACCCCGGCCCTTTCTCTACCACCCCCCAAATCCATATTCAGTCAAACAGTAGGCTGCTTGCTTGGCTTATTCCTGGTCAACAGATATACAGGCCTGGGATGGGAGTGTCCAGGGAGGCAGGTCCTGAGCTCATCCAACACATTCCTCTGCCTTGTCATTGAGCATACATCATGGAAATGTTAGTTAGGGAAGGGGCTGCATTATTCCAGGGCTCCCAGGAACCAGACCTACTGGCCATACAGAGTCCAAAATGAATGCTGATGTGGCAATCATTGGGCAAACATTCTGACCAGAACCCTTCCACATACCAAACATACTACATAGTGGGGAATTTGTCCCCTCCCCCAGCCTCACTTTCCTTGCTTTAATTTTCCCCTTCCCTTTTCCAGCTACAACATCAACTCTTTTCCCTTTCCCACCACTGCACTGACTCATCTGTGCCTGCCTGGAGCTTGGGAGAAGCAGGTTCCTCAGTCAGAGCTCCATGCTCTCCAATTTGGCTCTGGTCCCTGGGGCTCTCTCTAAAGACATGGAAGCCTTGAGGGCACCCCCAGCCCACCCCAGCCCACTCCAGCACCCCCATTAGCGTGTCATGGAGGAGGATCGCGAACTTCAGACTCACGAATCGTCCACGAAGCAGGGGTAGGGCATCTGCTGGAGGTAGATTCCAACTGGAGCCTCCGCCTGCACCTGGCTCCTTGTGATCCCCTGTTCAACCATGTCCTGCAGATAGGCAAACCCGCCCCAGATGTACCGGAAATCTTCCACGGGATCAGCTCTGGGACCAGAATCCCAATACCTGAGAAGACACAGAGGGACAAAGGATGGGAACGGGCTTGGATAGCTCACTCACACCTCCCGACCACAGGGTGACTCGGAACTCATTCTCTTAAAATCTTTCTCCTAAACGCTTCAAAAGGATCCAATTCTATTTCCTAGTCCTCAGTTTAAATCTCAGTTTTGAATATTAGCCACAATGTGACTCTGTAATTGCTTTCATTCAAGGACTCTTTGTTGAGCTTTATAAAATATCTTATTTTTTCTTATTTAACTTAATTTTATTGATTTATGAGTCCAGTCTCAATCCCTTTCTCTCTACCAAATGTAATTTCCCACTGACTTTGGAGAAATGCAGCGAGCCCTTCCTGAAACATCACCTGTCTTTAATCTTATTGGTTTTCTCCACCACGTCTATGTCCATTCGGATCTTATACTTCACGTGGGGTGGTAGAGAGCTGGTCCAGGGATACATGTCAGGGAATACCACTCCGGCCCAGAACATGTTTTCCTCCAGTAGAGAGAGGGCACGTTGGGTGAGCTGAGTTTCATCATTGTAGCTTTCAAACTTATCCAGGACCAAGCACTGCAGAGAGTCACAAAGTTGAGAGAGTGTGAGGAGGACCAACTGCAAAGACTCAACTCTACACACAGAAAGTCACAGGATAAGGGCTGCTGTCCCAGGAAATGGTCAAATGCAAGGAGGCCTATAAACTTAATGTTTGCTTAACTCCAGAGTCTGGTGTTAATTTTTCAACGTGTCCAGATGTAGGGGCGCCAGAGAGCTTGGAAGTGCTGACGTGCTCTTATCCCTGCAGAGCTAGTGAGGACCACACTTTCCAGATGTCCAAGGCTGTCCAAATATGCAAGTCTTCAAAATGACAAAAATACTCCAGGCTTTTACTCTCCAGCATGGGGAGGCGAGGGAGTGGGGTCACACTGGCTACAGCCTGCTTTGAAGATCAGAAAGCCTGACGATTAAAGAGCTTTAAAGAGAGAGAGAAACATTCCTAGCCTTGAACCTTTCTGGCTCTCTCCAAACACACAGGATGGCCAGCTGAGGGAAGAGCAAGGAGGAAGAGAGAAAATAACAGACAGCCAAAATAACTTAGTCAGGGAAATCACTTCCAATTACAATTCTGTGACAAGTAATGCTGGGGGAGGAGGAATTTCTATAATATGCCTCTTTTCTTCTCCTGGAAGAGGAAAAAAAAAAACCATTACCCACAAAAGAGCAGAACTAAGAATGTTTGAAAATTTGAATATGATGGTTGTCCTCCTGTATAGATTTGTTAAAGCACTTATATTGCTATTTGCATCTATTTCCTTTTCTTTAACCTCCTGTTCCTATCATTGTGAGGGCTATTGGTGTCGACATTTCTTTCTTAGCATGTAACTCACAAGAAGTCAGATGGTCTTGTCTTGATTAAGTTGTTCCCTGAATGCATACTGAGAATCTGCAATGTGCCAGAGCCTGGTCGACTCTAGGAATACAAGAAGGAAAGATAAACATCTCTTCCTGAAAGAAAGTTGAGAGCTAATGAGGGAGAGGATTGGAGCAAACCAACAACCATAATGTGGAAGGATCAGGTTCTAATGAAAGCAAGCCCAGTGTATTGGGGAAGCCCAGCGGAGGGACGCAGCTAAGTCTTCCTGGAGGGATCAGGGAAGGCTGCCTGGAGGAAGAGCCTCCTGAGTAGGAGGATAAGCAGGAATTAGCCGAGGAGAGGAAAGTGGGGGAAAGGTCAGCTCAGGCACAGGGAACAGCACATGAGGTATCTGGGGACCTACAAGAATAGATCAGTGGTTCCCATCTGTGGCTGTGCTTTAGAACCACTGCGGAGCTTTAAAAGATACCTATGCCAGGCCCTACCCCAAGCAATTAAATCAGAATCTCTAGTGGCAGGGCCAGGGCATCCATATC
AGATGCTCATCGACATGATGGAGAAGCTGTCCAGGAACCAGGTACACCAAATCACTGCATTGGAGACACCCTGATTTTTCAAGGTCTCCTTCAGTCGCAACTCCTTCTCCAAGACGATGCTCTTCACAGTCATGGAGACAGAGTAGATCCATGCCAGCACCATGAAGATAGGGAAACAGCGGTTCAGGATGATCATGAAACTAAAGCAAAAGGAGAGAAGCAGAATAGTAGAGTGCTCTGTACCTGGTAGAGGCAGAATAAATGTTTGTTGAATGAATGTGTTGAGAACAAAGCCCAGATGGAGGGAAAGGAAAACAGGAAAACCTCCCCTGGACATTTAATGGGCTGGAATCTTTTAACACATTCCATGTTAGCCCTGAAGCATTATTTTTTGTTTATAGCAGAGTGCTGGCTTTCTGGTTAGCCCGGGTGAATGCTCTGCAAGTAAAATGTGTCAATAAAATTATATCCTCTATGTCAAAGATCTTCCCTGTAAGGCCTTGCAAGGAAAAAACTGCAGACTTGATGATGTGGATGGGATCTGAGTAGACAGCTACATGCTGACACTGAAACCCAAGAGGGTGGAGGACTGACAAGGGCAAGTGGTGGTGGTAAGAGCAATAACTTGGCTCCCCAAGGGGTCAGCCGCCCCAGCACAGTCTGCCCTGGAAGGTCAAACCCTAGTTACACAAAAAGACACACAAAATAACTAATCAGTTTGGCACTTTCAGAAGGCGAATGATCCATCAATACATCAGTTATCCAACAGCCACTGGACCCACCACCAGCCATGCACAGGTGGAGGAGACCCTGGTATATCCACCTGGCAAACAGGATAGATTTGATACACTGGAACGACTTTCTTGTGAACTTTACACGTTTTCCCTGTGTTTCATGTGCTAGTAAAGCCCTTGGGATTATTATCTATTGAAAACTGTTGTGTGTTGTCACTGAAAGGGCCCAATTCCAGCATGGGAGGGTTTCACTCAAGGTGGCCCTAGGGAGAGAAGCATATGTTCGTAAAGCATGCACTTCTGGGACTAGCCACCAGAGGACTCTCCCATACCAAATGACCCAGCTCCCTATTGCCTCCCCACACCCACCTCACTTCCCCACCAGCCACTCCCGTCCTGATCCTAAAGTGGACCTGGGCTTTCGCCCCTGGCTCCATTTCCCAGCTCTGCCTATTGTCCGAACCCAAACTAACTGCAGACTGGCCACTGTTATCTCAAGTTTTCTGTAGAGCTGAGGCTGGAAAACCCATTGGACAGTTATTAAAAGAGGGTTTCCTGTGTCCACACTGAGTTTTAGGTGAACTCAATTGTAGATCTCTGCTGCTGTTTTGGTAGTGTGTCTGACCCCATCTATAATGACAAATGAGCCTCCCAACCCTCCACCCCGGCCCTTTCTCTACCACCCCCCAAATCCATATTCAGTCAAACAGTAGGCTGCTTGCTTGGCTTATTCCTGGTCAACAGATATACAGGCCTGGGATGGGAGTGTCCAGGGAGGCAGGTCCTGAGCTCATCCAACACATTCCTCTGCCTTGTCATTGAGCATACATCATGGAAATGTTAGTTAGGGAAGGGGCTGCATTATTCCAGGGCTCCCAGGAACCAGACCTACTGGCCATACAGAGTCCAAAATGAATGCTGATGTGGCAATCATTGGGCAAACATTCTGACCAGAACCCTTCCACATACCAAACATACTACATAGTGGGGAATTTGTCCCCTCCCCCAGCCTCACTTTCCTTGCTTTAATTTTCCCCTTCCCTTTTCCAGCTACAACATCAACTCTTTTCCCTTTCCCACCACTGCACTGACTCATCTGTGCCTGCCTGGAGCTTGGGAGAAGCAGGTTCCTCAGTCAGAGCTCCATGCTCTCCAATTTGGCTCTGGTCCCTGGGGCTCTCTCTAAAGACATGGAAGCCTTGAGGGCACCCCCAGCCCACCCCAGCCCACTCCAGCACCCCCATTAGCGTGTCATGGAGGAGGATCGCGAACTTCAGACTCACGAATCGTCCACGAAGCAGGGGTAGGGCATCTTCTGGAGGTAGATTCCAACTGGAGCCTCCGCCTGCACCTGGCTCCTTGTGATCCCCTGTTCAACCATGTCCTGCAGATAGGCAAACCCGCCCCAGATGTACCGGAAATCTTCCACGGGATCAGCTCTGGGACCAGAATCCCAATACCTGAGAAGACACAGAGGGACAAAGGATGGGAACGGGCTTGGATAGCTCACTCACACCTCCCGACCACAGGGTGACTCGGAACTCATTCTCTTAAAATCTTTCTCCTAAACGCTTCAAAAGGATCCAATTCTATTTCCTAGTCCTCAGTTTAAATCTCAGTTTTGAATATTAGCCACAATGTGACTCTGTAATTGCTTTCATTCAAGGACTCTTTGTTGAGCTTTATAAAATATCTTATTTTTTCTTATTTAACTTAATTTTATTGATTTATGAGTCCAGTCTCAATCCCTTTCTCTCTACCAAATGTAATTTCCCACTGACTTTGGAGAAATGCAGCGAGCCCTTCCTGAAACATCACCTGTCTTTAATCTTATTGGTTTTCTCCACCACGTCTATGTCCATTCGGATCTTATACTTCACGTGGGGTGGTAGAGAGCTGGTCCAGGGATACATGTCAGGGAATACCACTCCGGCCCAGAACATGTTTTCCTCCAGTAGAGAGAGGGCACGTTGGGTGAGCTGAGTTTCATCATTGTAGCTTTCAAACTTATCCAGGACCAAGCACTGCAGAGAGTCACAAAGTTGAGAGAGTGTGAGGAGGACCAACTGCAAAGACTCAACTCTACACACAGAAAGTCACAGGATAAGGGCTGCTGTCCCAGGAAATGGTCAAATGCAAGGAGGCCTATAAACTTAATGTTTGCTTAACTCCAGAGTCTGGTGTTAATTTTTCAACGTGTCCAGATGTAGGGGCGCCAGAGAGCTTGGAAGTGCTGACGTGCTCTTATCCCTGCAGAGCTAGTGAGGACCACACTTTCCAGATGTCCAAGGCTGTCCAAATATGCAAGTCTTCAAAATGACAAAAATACTCCAGGCTTTTACTCTCCAGCATGGGGAGGCGAGGGAGTGGGGTCACACTGGCTACAGCCTGCTTTGAAGATCAGAAAGCCTGACGATTAAAGAGCTTTAAAGAGAGAGAGAAACATTCCTAGCCTTGAACCTTTCTGGCTCTCTCCAAACACACAGGATGGCCAGCTGAGGGAAGAGCAAGGAGGAAGAGAGAAAATAACAGACAGCCAAAATAACTTAGTCAGGGAAATCACTTCCAATTACAATTCTGTGACAAGTAATGCTGGGGGAGGAGGAATTTCTATAATATGCCTCTTTTCTTCTCCTGGAAGAGGAAAAAAAAAAACCATTACCCACAAAAGAGCAGAACTAAGAATGTTTGAAAATTTGAATATGATGGTTGTCCTCCTGTATAGATTTGTTAAAGCACTTATATTGCTATTTGCATCTATTTCCTTTTCTTTAACCTCCTGTTCCTATCATTGTGAGGGCTATTGGTGTCGACATTTCTTTCTTAGCATGTAACTCACAAGAAGTCAGATGGTCTTGTCTTGATTAAGTTGTTCCCTGAATGCATACTGAGAATCTGCAATGTGCCAGAGCCTGGTCGACTCTAGGAATACAAGAAGGAAAGATAAACATCTCTTCCTGAAAGAAAGTTGAGAGCTAATGAGGGAGAGGATTGGAGCAAACCAACAACCATAATGTGGAAGGATCAGGTTCTAATGAAAGCAAGCCCAGTGTATTGGGGAAGCCCAGCGGAGGGACGCAGCTAAGTCTTCCTGGAGGGATCAGGGAAGGCTGCCTGGAGGAAGAGCCTCCTGAGTAGGAGGATAAGCAGGAATTAGCCGAGGAGAGGAAAGTGGGGGAAAGGTCAGCTCAGGCACAGGGAACAGCACATGAGGTATCTGGGGACCTACAAGAATAGATCAGTGGTTCCCATCTGTGGCTGTGCTTTAGAACCACTGCGGAGCTTTAAAAGATACCTATGCCAGGCCCTACCCCAAGCAATTAAATCAGAATCTCTAGTGGCAGGGCCAGGGCATCCATATC
Task1_train_1298
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?
Pathogenic; Retinal dystrophy
CTGCATTGGAGACACCCTGATTTTTCAAGGTCTCCTTCAGTCGCAACTCCTTCTCCAAGACGATGCTCTTCACAGTCATGGAGACAGAGTAGATCCATGCCAGCACCATGAAGATAGGGAAACAGCGGTTCAGGATGATCATGAAACTAAAGCAAAAGGAGAGAAGCAGAATAGTAGAGTGCTCTGTACCTGGTAGAGGCAGAATAAATGTTTGTTGAATGAATGTGTTGAGAACAAAGCCCAGATGGAGGGAAAGGAAAACAGGAAAACCTCCCCTGGACATTTAATGGGCTGGAATCTTTTAACACATTCCATGTTAGCCCTGAAGCATTATTTTTTGTTTATAGCAGAGTGCTGGCTTTCTGGTTAGCCCGGGTGAATGCTCTGCAAGTAAAATGTGTCAATAAAATTATATCCTCTATGTCAAAGATCTTCCCTGTAAGGCCTTGCAAGGAAAAAACTGCAGACTTGATGATGTGGATGGGATCTGAGTAGACAGCTACATGCTGACACTGAAACCCAAGAGGGTGGAGGACTGACAAGGGCAAGTGGTGGTGGTAAGAGCAATAACTTGGCTCCCCAAGGGGTCAGCCGCCCCAGCACAGTCTGCCCTGGAAGGTCAAACCCTAGTTACACAAAAAGACACACAAAATAACTAATCAGTTTGGCACTTTCAGAAGGCGAATGATCCATCAATACATCAGTTATCCAACAGCCACTGGACCCACCACCAGCCATGCACAGGTGGAGGAGACCCTGGTATATCCACCTGGCAAACAGGATAGATTTGATACACTGGAACGACTTTCTTGTGAACTTTACACGTTTTCCCTGTGTTTCATGTGCTAGTAAAGCCCTTGGGATTATTATCTATTGAAAACTGTTGTGTGTTGTCACTGAAAGGGCCCAATTCCAGCATGGGAGGGTTTCACTCAAGGTGGCCCTAGGGAGAGAAGCATATGTTCGTAAAGCATGCACTTCTGGGACTAGCCACCAGAGGACTCTCCCATACCAAATGACCCAGCTCCCTATTGCCTCCCCACACCCACCTCACTTCCCCACCAGCCACTCCCGTCCTGATCCTAAAGTGGACCTGGGCTTTCGCCCCTGGCTCCATTTCCCAGCTCTGCCTATTGTCCGAACCCAAACTAACTGCAGACTGGCCACTGTTATCTCAAGTTTTCTGTAGAGCTGAGGCTGGAAAACCCATTGGACAGTTATTAAAAGAGGGTTTCCTGTGTCCACACTGAGTTTTAGGTGAACTCAATTGTAGATCTCTGCTGCTGTTTTGGTAGTGTGTCTGACCCCATCTATAATGACAAATGAGCCTCCCAACCCTCCACCCCGGCCCTTTCTCTACCACCCCCCAAATCCATATTCAGTCAAACAGTAGGCTGCTTGCTTGGCTTATTCCTGGTCAACAGATATACAGGCCTGGGATGGGAGTGTCCAGGGAGGCAGGTCCTGAGCTCATCCAACACATTCCTCTGCCTTGTCATTGAGCATACATCATGGAAATGTTAGTTAGGGAAGGGGCTGCATTATTCCAGGGCTCCCAGGAACCAGACCTACTGGCCATACAGAGTCCAAAATGAATGCTGATGTGGCAATCATTGGGCAAACATTCTGACCAGAACCCTTCCACATACCAAACATACTACATAGTGGGGAATTTGTCCCCTCCCCCAGCCTCACTTTCCTTGCTTTAATTTTCCCCTTCCCTTTTCCAGCTACAACATCAACTCTTTTCCCTTTCCCACCACTGCACTGACTCATCTGTGCCTGCCTGGAGCTTGGGAGAAGCAGGTTCCTCAGTCAGAGCTCCATGCTCTCCAATTTGGCTCTGGTCCCTGGGGCTCTCTCTAAAGACATGGAAGCCTTGAGGGCACCCCCAGCCCACCCCAGCCCACTCCAGCACCCCCATTAGCGTGTCATGGAGGAGGATCGCGAACTTCAGACTCACGAATCGTCCACGAAGCAGGGGTAGGGCATCTGCTGGAGGTAGATTCCAACTGGAGCCTCCGCCTGCACCTGGCTCCTTGTGATCCCCTGTTCAACCATGTCCTGCAGATAGGCAAACCCGCCCCAGATGTACCGGAAATCTTCCACGGGATCAGCTCTGGGACCAGAATCCCAATACCTGAGAAGACACAGAGGGACAAAGGATGGGAACGGGCTTGGATAGCTCACTCACACCTCCCGACCACAGGGTGACTCGGAACTCATTCTCTTAAAATCTTTCTCCTAAACGCTTCAAAAGGATCCAATTCTATTTCCTAGTCCTCAGTTTAAATCTCAGTTTTGAATATTAGCCACAATGTGACTCTGTAATTGCTTTCATTCAAGGACTCTTTGTTGAGCTTTATAAAATATCTTATTTTTTCTTATTTAACTTAATTTTATTGATTTATGAGTCCAGTCTCAATCCCTTTCTCTCTACCAAATGTAATTTCCCACTGACTTTGGAGAAATGCAGCGAGCCCTTCCTGAAACATCACCTGTCTTTAATCTTATTGGTTTTCTCCACCACGTCTATGTCCATTCGGATCTTATACTTCACGTGGGGTGGTAGAGAGCTGGTCCAGGGATACATGTCAGGGAATACCACTCCGGCCCAGAACATGTTTTCCTCCAGTAGAGAGAGGGCACGTTGGGTGAGCTGAGTTTCATCATTGTAGCTTTCAAACTTATCCAGGACCAAGCACTGCAGAGAGTCACAAAGTTGAGAGAGTGTGAGGAGGACCAACTGCAAAGACTCAACTCTACACACAGAAAGTCACAGGATAAGGGCTGCTGTCCCAGGAAATGGTCAAATGCAAGGAGGCCTATAAACTTAATGTTTGCTTAACTCCAGAGTCTGGTGTTAATTTTTCAACGTGTCCAGATGTAGGGGCGCCAGAGAGCTTGGAAGTGCTGACGTGCTCTTATCCCTGCAGAGCTAGTGAGGACCACACTTTCCAGATGTCCAAGGCTGTCCAAATATGCAAGTCTTCAAAATGACAAAAATACTCCAGGCTTTTACTCTCCAGCATGGGGAGGCGAGGGAGTGGGGTCACACTGGCTACAGCCTGCTTTGAAGATCAGAAAGCCTGACGATTAAAGAGCTTTAAAGAGAGAGAGAAACATTCCTAGCCTTGAACCTTTCTGGCTCTCTCCAAACACACAGGATGGCCAGCTGAGGGAAGAGCAAGGAGGAAGAGAGAAAATAACAGACAGCCAAAATAACTTAGTCAGGGAAATCACTTCCAATTACAATTCTGTGACAAGTAATGCTGGGGGAGGAGGAATTTCTATAATATGCCTCTTTTCTTCTCCTGGAAGAGGAAAAAAAAAAACCATTACCCACAAAAGAGCAGAACTAAGAATGTTTGAAAATTTGAATATGATGGTTGTCCTCCTGTATAGATTTGTTAAAGCACTTATATTGCTATTTGCATCTATTTCCTTTTCTTTAACCTCCTGTTCCTATCATTGTGAGGGCTATTGGTGTCGACATTTCTTTCTTAGCATGTAACTCACAAGAAGTCAGATGGTCTTGTCTTGATTAAGTTGTTCCCTGAATGCATACTGAGAATCTGCAATGTGCCAGAGCCTGGTCGACTCTAGGAATACAAGAAGGAAAGATAAACATCTCTTCCTGAAAGAAAGTTGAGAGCTAATGAGGGAGAGGATTGGAGCAAACCAACAACCATAATGTGGAAGGATCAGGTTCTAATGAAAGCAAGCCCAGTGTATTGGGGAAGCCCAGCGGAGGGACGCAGCTAAGTCTTCCTGGAGGGATCAGGGAAGGCTGCCTGGAGGAAGAGCCTCCTGAGTAGGAGGATAAGCAGGAATTAGCCGAGGAGAGGAAAGTGGGGGAAAGGTCAGCTCAGGCACAGGGAACAGCACATGAGGTATCTGGGGACCTACAAGAATAGATCAGTGGTTCCCATCTGTGGCTGTGCTTTAGAACCACTGCGGAGCTTTAAAAGATACCTATGCCAGGCCCTACCCCAAGCAATTAAATCAGAATCTCTAGTGGCAGGGCCAGGGCATCCATATCTTGTAAAAAACTCCCTAGGTAATTGCAAGGCACAGAAGGGAGTGTAGGGTGAAG
CTGCATTGGAGACACCCTGATTTTTCAAGGTCTCCTTCAGTCGCAACTCCTTCTCCAAGACGATGCTCTTCACAGTCATGGAGACAGAGTAGATCCATGCCAGCACCATGAAGATAGGGAAACAGCGGTTCAGGATGATCATGAAACTAAAGCAAAAGGAGAGAAGCAGAATAGTAGAGTGCTCTGTACCTGGTAGAGGCAGAATAAATGTTTGTTGAATGAATGTGTTGAGAACAAAGCCCAGATGGAGGGAAAGGAAAACAGGAAAACCTCCCCTGGACATTTAATGGGCTGGAATCTTTTAACACATTCCATGTTAGCCCTGAAGCATTATTTTTTGTTTATAGCAGAGTGCTGGCTTTCTGGTTAGCCCGGGTGAATGCTCTGCAAGTAAAATGTGTCAATAAAATTATATCCTCTATGTCAAAGATCTTCCCTGTAAGGCCTTGCAAGGAAAAAACTGCAGACTTGATGATGTGGATGGGATCTGAGTAGACAGCTACATGCTGACACTGAAACCCAAGAGGGTGGAGGACTGACAAGGGCAAGTGGTGGTGGTAAGAGCAATAACTTGGCTCCCCAAGGGGTCAGCCGCCCCAGCACAGTCTGCCCTGGAAGGTCAAACCCTAGTTACACAAAAAGACACACAAAATAACTAATCAGTTTGGCACTTTCAGAAGGCGAATGATCCATCAATACATCAGTTATCCAACAGCCACTGGACCCACCACCAGCCATGCACAGGTGGAGGAGACCCTGGTATATCCACCTGGCAAACAGGATAGATTTGATACACTGGAACGACTTTCTTGTGAACTTTACACGTTTTCCCTGTGTTTCATGTGCTAGTAAAGCCCTTGGGATTATTATCTATTGAAAACTGTTGTGTGTTGTCACTGAAAGGGCCCAATTCCAGCATGGGAGGGTTTCACTCAAGGTGGCCCTAGGGAGAGAAGCATATGTTCGTAAAGCATGCACTTCTGGGACTAGCCACCAGAGGACTCTCCCATACCAAATGACCCAGCTCCCTATTGCCTCCCCACACCCACCTCACTTCCCCACCAGCCACTCCCGTCCTGATCCTAAAGTGGACCTGGGCTTTCGCCCCTGGCTCCATTTCCCAGCTCTGCCTATTGTCCGAACCCAAACTAACTGCAGACTGGCCACTGTTATCTCAAGTTTTCTGTAGAGCTGAGGCTGGAAAACCCATTGGACAGTTATTAAAAGAGGGTTTCCTGTGTCCACACTGAGTTTTAGGTGAACTCAATTGTAGATCTCTGCTGCTGTTTTGGTAGTGTGTCTGACCCCATCTATAATGACAAATGAGCCTCCCAACCCTCCACCCCGGCCCTTTCTCTACCACCCCCCAAATCCATATTCAGTCAAACAGTAGGCTGCTTGCTTGGCTTATTCCTGGTCAACAGATATACAGGCCTGGGATGGGAGTGTCCAGGGAGGCAGGTCCTGAGCTCATCCAACACATTCCTCTGCCTTGTCATTGAGCATACATCATGGAAATGTTAGTTAGGGAAGGGGCTGCATTATTCCAGGGCTCCCAGGAACCAGACCTACTGGCCATACAGAGTCCAAAATGAATGCTGATGTGGCAATCATTGGGCAAACATTCTGACCAGAACCCTTCCACATACCAAACATACTACATAGTGGGGAATTTGTCCCCTCCCCCAGCCTCACTTTCCTTGCTTTAATTTTCCCCTTCCCTTTTCCAGCTACAACATCAACTCTTTTCCCTTTCCCACCACTGCACTGACTCATCTGTGCCTGCCTGGAGCTTGGGAGAAGCAGGTTCCTCAGTCAGAGCTCCATGCTCTCCAATTTGGCTCTGGTCCCTGGGGCTCTCTCTAAAGACATGGAAGCCTTGAGGGCACCCCCAGCCCACCCCAGCCCACTCCAGCACCCCCATTAGCGTGTCATGGAGGAGGATCGCGAACTTCAGACTCACGAATCGTCCACGAAGCAGGGGTAGGGCATCTGCTGGAGGTAGATTCCAACTGGAGCCTCCGCCTGCACCTGGCTCCTTGTGATCCTCTGTTCAACCATGTCCTGCAGATAGGCAAACCCGCCCCAGATGTACCGGAAATCTTCCACGGGATCAGCTCTGGGACCAGAATCCCAATACCTGAGAAGACACAGAGGGACAAAGGATGGGAACGGGCTTGGATAGCTCACTCACACCTCCCGACCACAGGGTGACTCGGAACTCATTCTCTTAAAATCTTTCTCCTAAACGCTTCAAAAGGATCCAATTCTATTTCCTAGTCCTCAGTTTAAATCTCAGTTTTGAATATTAGCCACAATGTGACTCTGTAATTGCTTTCATTCAAGGACTCTTTGTTGAGCTTTATAAAATATCTTATTTTTTCTTATTTAACTTAATTTTATTGATTTATGAGTCCAGTCTCAATCCCTTTCTCTCTACCAAATGTAATTTCCCACTGACTTTGGAGAAATGCAGCGAGCCCTTCCTGAAACATCACCTGTCTTTAATCTTATTGGTTTTCTCCACCACGTCTATGTCCATTCGGATCTTATACTTCACGTGGGGTGGTAGAGAGCTGGTCCAGGGATACATGTCAGGGAATACCACTCCGGCCCAGAACATGTTTTCCTCCAGTAGAGAGAGGGCACGTTGGGTGAGCTGAGTTTCATCATTGTAGCTTTCAAACTTATCCAGGACCAAGCACTGCAGAGAGTCACAAAGTTGAGAGAGTGTGAGGAGGACCAACTGCAAAGACTCAACTCTACACACAGAAAGTCACAGGATAAGGGCTGCTGTCCCAGGAAATGGTCAAATGCAAGGAGGCCTATAAACTTAATGTTTGCTTAACTCCAGAGTCTGGTGTTAATTTTTCAACGTGTCCAGATGTAGGGGCGCCAGAGAGCTTGGAAGTGCTGACGTGCTCTTATCCCTGCAGAGCTAGTGAGGACCACACTTTCCAGATGTCCAAGGCTGTCCAAATATGCAAGTCTTCAAAATGACAAAAATACTCCAGGCTTTTACTCTCCAGCATGGGGAGGCGAGGGAGTGGGGTCACACTGGCTACAGCCTGCTTTGAAGATCAGAAAGCCTGACGATTAAAGAGCTTTAAAGAGAGAGAGAAACATTCCTAGCCTTGAACCTTTCTGGCTCTCTCCAAACACACAGGATGGCCAGCTGAGGGAAGAGCAAGGAGGAAGAGAGAAAATAACAGACAGCCAAAATAACTTAGTCAGGGAAATCACTTCCAATTACAATTCTGTGACAAGTAATGCTGGGGGAGGAGGAATTTCTATAATATGCCTCTTTTCTTCTCCTGGAAGAGGAAAAAAAAAAACCATTACCCACAAAAGAGCAGAACTAAGAATGTTTGAAAATTTGAATATGATGGTTGTCCTCCTGTATAGATTTGTTAAAGCACTTATATTGCTATTTGCATCTATTTCCTTTTCTTTAACCTCCTGTTCCTATCATTGTGAGGGCTATTGGTGTCGACATTTCTTTCTTAGCATGTAACTCACAAGAAGTCAGATGGTCTTGTCTTGATTAAGTTGTTCCCTGAATGCATACTGAGAATCTGCAATGTGCCAGAGCCTGGTCGACTCTAGGAATACAAGAAGGAAAGATAAACATCTCTTCCTGAAAGAAAGTTGAGAGCTAATGAGGGAGAGGATTGGAGCAAACCAACAACCATAATGTGGAAGGATCAGGTTCTAATGAAAGCAAGCCCAGTGTATTGGGGAAGCCCAGCGGAGGGACGCAGCTAAGTCTTCCTGGAGGGATCAGGGAAGGCTGCCTGGAGGAAGAGCCTCCTGAGTAGGAGGATAAGCAGGAATTAGCCGAGGAGAGGAAAGTGGGGGAAAGGTCAGCTCAGGCACAGGGAACAGCACATGAGGTATCTGGGGACCTACAAGAATAGATCAGTGGTTCCCATCTGTGGCTGTGCTTTAGAACCACTGCGGAGCTTTAAAAGATACCTATGCCAGGCCCTACCCCAAGCAATTAAATCAGAATCTCTAGTGGCAGGGCCAGGGCATCCATATCTTGTAAAAAACTCCCTAGGTAATTGCAAGGCACAGAAGGGAGTGTAGGGTGAAG
Task1_train_1299
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; Cone-rod dystrophy 3
CCTTCAGTCGCAACTCCTTCTCCAAGACGATGCTCTTCACAGTCATGGAGACAGAGTAGATCCATGCCAGCACCATGAAGATAGGGAAACAGCGGTTCAGGATGATCATGAAACTAAAGCAAAAGGAGAGAAGCAGAATAGTAGAGTGCTCTGTACCTGGTAGAGGCAGAATAAATGTTTGTTGAATGAATGTGTTGAGAACAAAGCCCAGATGGAGGGAAAGGAAAACAGGAAAACCTCCCCTGGACATTTAATGGGCTGGAATCTTTTAACACATTCCATGTTAGCCCTGAAGCATTATTTTTTGTTTATAGCAGAGTGCTGGCTTTCTGGTTAGCCCGGGTGAATGCTCTGCAAGTAAAATGTGTCAATAAAATTATATCCTCTATGTCAAAGATCTTCCCTGTAAGGCCTTGCAAGGAAAAAACTGCAGACTTGATGATGTGGATGGGATCTGAGTAGACAGCTACATGCTGACACTGAAACCCAAGAGGGTGGAGGACTGACAAGGGCAAGTGGTGGTGGTAAGAGCAATAACTTGGCTCCCCAAGGGGTCAGCCGCCCCAGCACAGTCTGCCCTGGAAGGTCAAACCCTAGTTACACAAAAAGACACACAAAATAACTAATCAGTTTGGCACTTTCAGAAGGCGAATGATCCATCAATACATCAGTTATCCAACAGCCACTGGACCCACCACCAGCCATGCACAGGTGGAGGAGACCCTGGTATATCCACCTGGCAAACAGGATAGATTTGATACACTGGAACGACTTTCTTGTGAACTTTACACGTTTTCCCTGTGTTTCATGTGCTAGTAAAGCCCTTGGGATTATTATCTATTGAAAACTGTTGTGTGTTGTCACTGAAAGGGCCCAATTCCAGCATGGGAGGGTTTCACTCAAGGTGGCCCTAGGGAGAGAAGCATATGTTCGTAAAGCATGCACTTCTGGGACTAGCCACCAGAGGACTCTCCCATACCAAATGACCCAGCTCCCTATTGCCTCCCCACACCCACCTCACTTCCCCACCAGCCACTCCCGTCCTGATCCTAAAGTGGACCTGGGCTTTCGCCCCTGGCTCCATTTCCCAGCTCTGCCTATTGTCCGAACCCAAACTAACTGCAGACTGGCCACTGTTATCTCAAGTTTTCTGTAGAGCTGAGGCTGGAAAACCCATTGGACAGTTATTAAAAGAGGGTTTCCTGTGTCCACACTGAGTTTTAGGTGAACTCAATTGTAGATCTCTGCTGCTGTTTTGGTAGTGTGTCTGACCCCATCTATAATGACAAATGAGCCTCCCAACCCTCCACCCCGGCCCTTTCTCTACCACCCCCCAAATCCATATTCAGTCAAACAGTAGGCTGCTTGCTTGGCTTATTCCTGGTCAACAGATATACAGGCCTGGGATGGGAGTGTCCAGGGAGGCAGGTCCTGAGCTCATCCAACACATTCCTCTGCCTTGTCATTGAGCATACATCATGGAAATGTTAGTTAGGGAAGGGGCTGCATTATTCCAGGGCTCCCAGGAACCAGACCTACTGGCCATACAGAGTCCAAAATGAATGCTGATGTGGCAATCATTGGGCAAACATTCTGACCAGAACCCTTCCACATACCAAACATACTACATAGTGGGGAATTTGTCCCCTCCCCCAGCCTCACTTTCCTTGCTTTAATTTTCCCCTTCCCTTTTCCAGCTACAACATCAACTCTTTTCCCTTTCCCACCACTGCACTGACTCATCTGTGCCTGCCTGGAGCTTGGGAGAAGCAGGTTCCTCAGTCAGAGCTCCATGCTCTCCAATTTGGCTCTGGTCCCTGGGGCTCTCTCTAAAGACATGGAAGCCTTGAGGGCACCCCCAGCCCACCCCAGCCCACTCCAGCACCCCCATTAGCGTGTCATGGAGGAGGATCGCGAACTTCAGACTCACGAATCGTCCACGAAGCAGGGGTAGGGCATCTGCTGGAGGTAGATTCCAACTGGAGCCTCCGCCTGCACCTGGCTCCTTGTGATCCCCTGTTCAACCATGTCCTGCAGATAGGCAAACCCGCCCCAGATGTACCGGAAATCTTCCACGGGATCAGCTCTGGGACCAGAATCCCAATACCTGAGAAGACACAGAGGGACAAAGGATGGGAACGGGCTTGGATAGCTCACTCACACCTCCCGACCACAGGGTGACTCGGAACTCATTCTCTTAAAATCTTTCTCCTAAACGCTTCAAAAGGATCCAATTCTATTTCCTAGTCCTCAGTTTAAATCTCAGTTTTGAATATTAGCCACAATGTGACTCTGTAATTGCTTTCATTCAAGGACTCTTTGTTGAGCTTTATAAAATATCTTATTTTTTCTTATTTAACTTAATTTTATTGATTTATGAGTCCAGTCTCAATCCCTTTCTCTCTACCAAATGTAATTTCCCACTGACTTTGGAGAAATGCAGCGAGCCCTTCCTGAAACATCACCTGTCTTTAATCTTATTGGTTTTCTCCACCACGTCTATGTCCATTCGGATCTTATACTTCACGTGGGGTGGTAGAGAGCTGGTCCAGGGATACATGTCAGGGAATACCACTCCGGCCCAGAACATGTTTTCCTCCAGTAGAGAGAGGGCACGTTGGGTGAGCTGAGTTTCATCATTGTAGCTTTCAAACTTATCCAGGACCAAGCACTGCAGAGAGTCACAAAGTTGAGAGAGTGTGAGGAGGACCAACTGCAAAGACTCAACTCTACACACAGAAAGTCACAGGATAAGGGCTGCTGTCCCAGGAAATGGTCAAATGCAAGGAGGCCTATAAACTTAATGTTTGCTTAACTCCAGAGTCTGGTGTTAATTTTTCAACGTGTCCAGATGTAGGGGCGCCAGAGAGCTTGGAAGTGCTGACGTGCTCTTATCCCTGCAGAGCTAGTGAGGACCACACTTTCCAGATGTCCAAGGCTGTCCAAATATGCAAGTCTTCAAAATGACAAAAATACTCCAGGCTTTTACTCTCCAGCATGGGGAGGCGAGGGAGTGGGGTCACACTGGCTACAGCCTGCTTTGAAGATCAGAAAGCCTGACGATTAAAGAGCTTTAAAGAGAGAGAGAAACATTCCTAGCCTTGAACCTTTCTGGCTCTCTCCAAACACACAGGATGGCCAGCTGAGGGAAGAGCAAGGAGGAAGAGAGAAAATAACAGACAGCCAAAATAACTTAGTCAGGGAAATCACTTCCAATTACAATTCTGTGACAAGTAATGCTGGGGGAGGAGGAATTTCTATAATATGCCTCTTTTCTTCTCCTGGAAGAGGAAAAAAAAAAACCATTACCCACAAAAGAGCAGAACTAAGAATGTTTGAAAATTTGAATATGATGGTTGTCCTCCTGTATAGATTTGTTAAAGCACTTATATTGCTATTTGCATCTATTTCCTTTTCTTTAACCTCCTGTTCCTATCATTGTGAGGGCTATTGGTGTCGACATTTCTTTCTTAGCATGTAACTCACAAGAAGTCAGATGGTCTTGTCTTGATTAAGTTGTTCCCTGAATGCATACTGAGAATCTGCAATGTGCCAGAGCCTGGTCGACTCTAGGAATACAAGAAGGAAAGATAAACATCTCTTCCTGAAAGAAAGTTGAGAGCTAATGAGGGAGAGGATTGGAGCAAACCAACAACCATAATGTGGAAGGATCAGGTTCTAATGAAAGCAAGCCCAGTGTATTGGGGAAGCCCAGCGGAGGGACGCAGCTAAGTCTTCCTGGAGGGATCAGGGAAGGCTGCCTGGAGGAAGAGCCTCCTGAGTAGGAGGATAAGCAGGAATTAGCCGAGGAGAGGAAAGTGGGGGAAAGGTCAGCTCAGGCACAGGGAACAGCACATGAGGTATCTGGGGACCTACAAGAATAGATCAGTGGTTCCCATCTGTGGCTGTGCTTTAGAACCACTGCGGAGCTTTAAAAGATACCTATGCCAGGCCCTACCCCAAGCAATTAAATCAGAATCTCTAGTGGCAGGGCCAGGGCATCCATATCTTGTAAAAAACTCCCTAGGTAATTGCAAGGCACAGAAGGGAGTGTAGGGTGAAGGGAGGTGAGTGTGACAGCAGCACTAGAAAGGAG
CCTTCAGTCGCAACTCCTTCTCCAAGACGATGCTCTTCACAGTCATGGAGACAGAGTAGATCCATGCCAGCACCATGAAGATAGGGAAACAGCGGTTCAGGATGATCATGAAACTAAAGCAAAAGGAGAGAAGCAGAATAGTAGAGTGCTCTGTACCTGGTAGAGGCAGAATAAATGTTTGTTGAATGAATGTGTTGAGAACAAAGCCCAGATGGAGGGAAAGGAAAACAGGAAAACCTCCCCTGGACATTTAATGGGCTGGAATCTTTTAACACATTCCATGTTAGCCCTGAAGCATTATTTTTTGTTTATAGCAGAGTGCTGGCTTTCTGGTTAGCCCGGGTGAATGCTCTGCAAGTAAAATGTGTCAATAAAATTATATCCTCTATGTCAAAGATCTTCCCTGTAAGGCCTTGCAAGGAAAAAACTGCAGACTTGATGATGTGGATGGGATCTGAGTAGACAGCTACATGCTGACACTGAAACCCAAGAGGGTGGAGGACTGACAAGGGCAAGTGGTGGTGGTAAGAGCAATAACTTGGCTCCCCAAGGGGTCAGCCGCCCCAGCACAGTCTGCCCTGGAAGGTCAAACCCTAGTTACACAAAAAGACACACAAAATAACTAATCAGTTTGGCACTTTCAGAAGGCGAATGATCCATCAATACATCAGTTATCCAACAGCCACTGGACCCACCACCAGCCATGCACAGGTGGAGGAGACCCTGGTATATCCACCTGGCAAACAGGATAGATTTGATACACTGGAACGACTTTCTTGTGAACTTTACACGTTTTCCCTGTGTTTCATGTGCTAGTAAAGCCCTTGGGATTATTATCTATTGAAAACTGTTGTGTGTTGTCACTGAAAGGGCCCAATTCCAGCATGGGAGGGTTTCACTCAAGGTGGCCCTAGGGAGAGAAGCATATGTTCGTAAAGCATGCACTTCTGGGACTAGCCACCAGAGGACTCTCCCATACCAAATGACCCAGCTCCCTATTGCCTCCCCACACCCACCTCACTTCCCCACCAGCCACTCCCGTCCTGATCCTAAAGTGGACCTGGGCTTTCGCCCCTGGCTCCATTTCCCAGCTCTGCCTATTGTCCGAACCCAAACTAACTGCAGACTGGCCACTGTTATCTCAAGTTTTCTGTAGAGCTGAGGCTGGAAAACCCATTGGACAGTTATTAAAAGAGGGTTTCCTGTGTCCACACTGAGTTTTAGGTGAACTCAATTGTAGATCTCTGCTGCTGTTTTGGTAGTGTGTCTGACCCCATCTATAATGACAAATGAGCCTCCCAACCCTCCACCCCGGCCCTTTCTCTACCACCCCCCAAATCCATATTCAGTCAAACAGTAGGCTGCTTGCTTGGCTTATTCCTGGTCAACAGATATACAGGCCTGGGATGGGAGTGTCCAGGGAGGCAGGTCCTGAGCTCATCCAACACATTCCTCTGCCTTGTCATTGAGCATACATCATGGAAATGTTAGTTAGGGAAGGGGCTGCATTATTCCAGGGCTCCCAGGAACCAGACCTACTGGCCATACAGAGTCCAAAATGAATGCTGATGTGGCAATCATTGGGCAAACATTCTGACCAGAACCCTTCCACATACCAAACATACTACATAGTGGGGAATTTGTCCCCTCCCCCAGCCTCACTTTCCTTGCTTTAATTTTCCCCTTCCCTTTTCCAGCTACAACATCAACTCTTTTCCCTTTCCCACCACTGCACTGACTCATCTGTGCCTGCCTGGAGCTTGGGAGAAGCAGGTTCCTCAGTCAGAGCTCCATGCTCTCCAATTTGGCTCTGGTCCCTGGGGCTCTCTCTAAAGACATGGAAGCCTTGAGGGCACCCCCAGCCCACCCCAGCCCACTCCAGCACCCCCATTAGCGTGTCATGGAGGAGGATCGCGAACTTCAGACTCACGAATCGTCCACGAAGCAGGGGTAGGGCATCTGCTGGAGGTAGATTCCAACTGGAGCCTCCGCCTGCACCTGGCTCCTTGTGATCCCCTGTTCAACCATGTCCTGCAGATAGGCAAACCGGCCCCAGATGTACCGGAAATCTTCCACGGGATCAGCTCTGGGACCAGAATCCCAATACCTGAGAAGACACAGAGGGACAAAGGATGGGAACGGGCTTGGATAGCTCACTCACACCTCCCGACCACAGGGTGACTCGGAACTCATTCTCTTAAAATCTTTCTCCTAAACGCTTCAAAAGGATCCAATTCTATTTCCTAGTCCTCAGTTTAAATCTCAGTTTTGAATATTAGCCACAATGTGACTCTGTAATTGCTTTCATTCAAGGACTCTTTGTTGAGCTTTATAAAATATCTTATTTTTTCTTATTTAACTTAATTTTATTGATTTATGAGTCCAGTCTCAATCCCTTTCTCTCTACCAAATGTAATTTCCCACTGACTTTGGAGAAATGCAGCGAGCCCTTCCTGAAACATCACCTGTCTTTAATCTTATTGGTTTTCTCCACCACGTCTATGTCCATTCGGATCTTATACTTCACGTGGGGTGGTAGAGAGCTGGTCCAGGGATACATGTCAGGGAATACCACTCCGGCCCAGAACATGTTTTCCTCCAGTAGAGAGAGGGCACGTTGGGTGAGCTGAGTTTCATCATTGTAGCTTTCAAACTTATCCAGGACCAAGCACTGCAGAGAGTCACAAAGTTGAGAGAGTGTGAGGAGGACCAACTGCAAAGACTCAACTCTACACACAGAAAGTCACAGGATAAGGGCTGCTGTCCCAGGAAATGGTCAAATGCAAGGAGGCCTATAAACTTAATGTTTGCTTAACTCCAGAGTCTGGTGTTAATTTTTCAACGTGTCCAGATGTAGGGGCGCCAGAGAGCTTGGAAGTGCTGACGTGCTCTTATCCCTGCAGAGCTAGTGAGGACCACACTTTCCAGATGTCCAAGGCTGTCCAAATATGCAAGTCTTCAAAATGACAAAAATACTCCAGGCTTTTACTCTCCAGCATGGGGAGGCGAGGGAGTGGGGTCACACTGGCTACAGCCTGCTTTGAAGATCAGAAAGCCTGACGATTAAAGAGCTTTAAAGAGAGAGAGAAACATTCCTAGCCTTGAACCTTTCTGGCTCTCTCCAAACACACAGGATGGCCAGCTGAGGGAAGAGCAAGGAGGAAGAGAGAAAATAACAGACAGCCAAAATAACTTAGTCAGGGAAATCACTTCCAATTACAATTCTGTGACAAGTAATGCTGGGGGAGGAGGAATTTCTATAATATGCCTCTTTTCTTCTCCTGGAAGAGGAAAAAAAAAAACCATTACCCACAAAAGAGCAGAACTAAGAATGTTTGAAAATTTGAATATGATGGTTGTCCTCCTGTATAGATTTGTTAAAGCACTTATATTGCTATTTGCATCTATTTCCTTTTCTTTAACCTCCTGTTCCTATCATTGTGAGGGCTATTGGTGTCGACATTTCTTTCTTAGCATGTAACTCACAAGAAGTCAGATGGTCTTGTCTTGATTAAGTTGTTCCCTGAATGCATACTGAGAATCTGCAATGTGCCAGAGCCTGGTCGACTCTAGGAATACAAGAAGGAAAGATAAACATCTCTTCCTGAAAGAAAGTTGAGAGCTAATGAGGGAGAGGATTGGAGCAAACCAACAACCATAATGTGGAAGGATCAGGTTCTAATGAAAGCAAGCCCAGTGTATTGGGGAAGCCCAGCGGAGGGACGCAGCTAAGTCTTCCTGGAGGGATCAGGGAAGGCTGCCTGGAGGAAGAGCCTCCTGAGTAGGAGGATAAGCAGGAATTAGCCGAGGAGAGGAAAGTGGGGGAAAGGTCAGCTCAGGCACAGGGAACAGCACATGAGGTATCTGGGGACCTACAAGAATAGATCAGTGGTTCCCATCTGTGGCTGTGCTTTAGAACCACTGCGGAGCTTTAAAAGATACCTATGCCAGGCCCTACCCCAAGCAATTAAATCAGAATCTCTAGTGGCAGGGCCAGGGCATCCATATCTTGTAAAAAACTCCCTAGGTAATTGCAAGGCACAGAAGGGAGTGTAGGGTGAAGGGAGGTGAGTGTGACAGCAGCACTAGAAAGGAG