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_16100
|
A variant affecting Chromosome 11, within the gene BANF1 (barrier to autointegration nuclear assembly factor 1), has been observed. Determine if it's benign or associated with disease.
|
Pathogenic; Nestor-Guillermo progeria syndrome
|
GGCCGAGGTGGGCGGATCACGATGTCAGGAGATCGAGACCATCCTGGCTAATACGGTGAAACCCTCTCTCTACAAAAATACAAAAAATTAGCCGGGCGTGATGACGAGCGCCTGTAGTCCCAGCTACCCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGTAACTCCTATAATCTTAAGTACTAGTGTAATATAAAACTATACGCATGCTCCAGAGAAGTCATCCTGGCAACCTCTCTGGAAGGAGTTTGAAATAAACCGTATCTTTCTCAACACGCTTGTACACCCCAAGTCTAGCATAGTCACACAACAGAGAAGTTCAGTCTGGCAACACACTACAGCCGGAGACAAACTAGGTGGCCACCGTGATGGTTCAAGCCAGGAACTAGTTAATTAAAGGTTGAGGTGAGCAGGCTTGTCTGCGACATTTGCATATTTCTGACTTGCGTACTTAGAAGACGAAGGCCAGTACCCTTAAGACTGATGGTTTCCGAAAGAAACACTGTCGTCTCTAGTTGCTGTCCTCCTTCCTCCTCCCTGTCTATCCCGGAGAAAAGACCCTCAGAGAAACACCCACACTTAGTCTCTGGCCCTCGGCTCCCAGGAACGCTGCCGGAGCAACACCGCCGTCTAGGCTGGACGCTGAGAGAGGATCGTCCACGACTCACTTCAAGGCTGAACCAAGAAAACACAGTAAAGGAACTTGCCGGCGGCCGCGACGGTAGCGTCAGTTAGAAATCAGGTCTCCAGTGTTCCCAGTTCCCACCAGTCCAACTGCGAGGAGTGCGACGTGAGTCTGAGTCTGATCCCTCCGAAAACCGTACTTCCGGCGCTGTCTCGGAGGCCTCCCGTCCCCTCCCTTGTCCGTCTTCTAACTCTTCCCCACGCCAGGTCCGTCAAGCCTAAGTCCTTGAGTTCCGGGTCCGGGCAGCAGAGAAAGGAAGTCCTCTCCCTGGAGGCCTATCTCCCTCAGAACTGCGCGAGAAGCGAGACCTTAGAAGGCAGGGCTTCCCGCGAAGGACCGGAAAGGAGCGCCTACTAAGGACGCCGTCGAGGTCCGGGGCGCCTCAACTCTATAGCTCTAACTGGCTAGAAGTGCCCAACGTGGAATGTTTCTTTTTTAAAGGCGGCTCTTGAAGCGACCCGGAAGCGGAAGTGGAAGAAAGTTCTAGTGGCTTGAGGTATCCGCAGGAGCGGCCGGGTGGCGGGAGGAACCGTTACGGGAACTGAAGTTGCGGGTGAGCGCCAGCCGCGGAGCAGGGCCCTGATTGGAGGCCAGAGGGGTTGCGGGGAGAAGGGGAGGAGAGGGGTCGCAGGCGCTGTGGCGGGCCCTGGGGGAGAGCTTGGCCGCGCTGCGGGGAGGGGGCGGGGTGCAGCGCGTGGGAGCCGGGCCGCGGGAAGGGGCGGGCCGCAGCGGCGCGCGGTGGGGGCGGAGCTGGGGCGCGGCGTGAACCCCGCGGGCGGGGAGCGGGTGTGCGCAGCGCTAGGTGTGCGCTTCGCCCTGTAGGTAGAGAGACCCTTTGGTTAGCTTTCCACGCCAAGTGGCCGTTCCAGGCAGGCAGTGTCGTCTTGGTTCAGCCAAGGTCACAGAGGGAGTGATAGCTTCCGCGCAGCCCTGGCTACGGACTCTGGGCATCTTTCCACTGCCCCGCTTGCGCCACCTGTTAGGCAGGATCGTTTTTCCTCTGGGGCAAGATCAAAATCCAGGTCCTGCAGGAAGAAACTCCTCTTAAAAATAGTAGGGAAGAGTCTCCCTGGAACTGTTTTCTCCTTTCAGGATGAGGGGGATCGAGCAAGCCACTGTAACCCCTGGCTTGGCTTCCTCTTACTATGAGATTGCTCGTGGGCCCTTAGAAGTTCCAGGTCTTCAGCCCTAATCTGCCTTTTTTTTGGGATTCCTAGATTAAGCCTGATCAAGATGACAACCTCCCAAAAGCACCGAGACTTCGTGGCAGAGCCCATGGGGGAGAAGCCAGTGGGGAGCCTGGCTGGGATTGGTGAAGTCCTGGGCAAGAAGCTGGAGGAAAGGGGTTTTGACAAGGTGTGGGGTGGCTGCGTGTACCTAGTGCAAGCGGGGGGTGGAAGGGAAGTGATTCCATCTGCTGGGGGATGGACAGTAAGGTATAATCTGAAGAGGCTGCCAGAGCCTGGGCACCTGGTGGAGAGGAGAGGGGGGCAAAACCCGCGCTGCTTCCTGGGCTTGTGTGCTCTGAATGGCACAGGAATGGCTGTCTTGCTCTTATCTCTCACTGAGCACTGAGCAGCACGCTCCTTCCTTTTCCCTGTTTTGCAGGCCTATGTTGTCCTTGGCCAGTTTCTGGTGCTAAAGAAAGATGAAGACCTCTTCCGGGAATGGCTGAAAGACACTTGTGGCGCCAACGCCAAGCAGTCCCGGGACTGCTTCGGATGCCTTCGAGAGTGGTGCGACGCCTTCTTGTGATGCTCTCTGGGAAGCTCTCAATCCCCAGCCCTCATCCAGAGTTTGCAGCCGAGTAGGGACTCCTCCCCTGTCCTCTACGAAGGAAAAGATTGCTATTGTCGTACTCACCTCCGACGTACTCCGGGGTCTTTTGGGAGTTTTCTCCCCTAACCATTTCAACTTTTTTTTGGATTCTCGCTCTTGCATGCCTCCCCCGTCCTTTTTCCCTTGCCAGTTCCCTGGTGACAGTTACCAGCTTTCCTGAATGGATTCCCGGCCCCATCCCTCACCCCCACCCTCACTTTCAATCCGTTTGATACCATTTGGCTCCTTTTTTGGCAGAACAGTCACTGTCCTTGTAAAGTTTTTTAGATCAATAAAGTCAGTGGCTTTCATGACTGGGCTTTGTGCACTGAAAAGCAAGTGGGCTGGGAGTTGCCTCTCCTTCAGGGACTGACCATGTTTCCCTCACTCCTTATCAGTAGAGACCGAAACTGGCAGCTTCCCTTCCACTCCCAGAGGGCAGCCACCCTAGCCATGTAGGCCTCAGGCAGGTGACTTTTGTCTCAATCCCCGAGTGATGTGGGAGAGGGTGTGGGTGGATCTTTTCCTGGGAGCCAGATGGACTGTGCTCCAGATGTCAGTTAAGTCAACAGCTGGGCTAGGCAGCACCTGGTGGAAAAGTCAGTGGGAGTCAGAGGTACCAGACAGGGTGGGCCGGATGTGGGTGAGAGTTCACCTGCCAGTCATCATCTGCTCTCCCGGCCTCTGTAAGGGTGGGCAGGGTGCTTGCCATCTTCCATGATCTCTTAGGGAGGAGAAGGAGCACAGGCATCACAGCTGGAAGGATGTGAGGGGAGTACACCTCAGTACATTTTAGTCCTGTTCTTTTTGTTTACTTTTTAACTTAATAGGGACAGGGCCCTGCTCTGTTGCCCATGCTGGCCTTAAGCGATCCTTAAGCCTCCCAAAGCGCTGTGACTATAGGTGTGAGCCACCATACCCGGCCAGCCCTATTATTTCTTGAACACTTAGTATGAACCAGGCTTGAAGCTAAAATCTTTGCAAACATTTTTTTCTTTCACAGTAATAAATATTTTCTCCTTTACAGGTGAGGAAATTTGAGGCTCAGAGAGGCTAATTTGCCCATGGACTTGCTCCTGGGAAGTAGCCAGACTGGAACTCAAACTAGCTTGGAAACCCAGGGACCCGGCCATGTGTTCCTTGGTCATGTGGCTTAGCCTCTCTGAGCCTCAGTTTCTCCACTTGGAAAATGAGGTGGTTGTAGGGAAAGGATATTTGCAGCAGTATAAACAACAAAGGACTATTTCCATAGCACATACAGAATTGCAATCAAGAAAAAAGCGGACTGGCTGGGCGCAATGGCTCACGTTTGTAATCCCAGCACTTTCAGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAGACCCCATCTCTACCAAAAATACAAAAATTAGCCGGGTGTGGTGGTGCACGCCTATAATCCCAGCTACTCAGGAGACTAAGGCAGGAGAATCGAACTTGGGAGG
|
GGCCGAGGTGGGCGGATCACGATGTCAGGAGATCGAGACCATCCTGGCTAATACGGTGAAACCCTCTCTCTACAAAAATACAAAAAATTAGCCGGGCGTGATGACGAGCGCCTGTAGTCCCAGCTACCCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGTAACTCCTATAATCTTAAGTACTAGTGTAATATAAAACTATACGCATGCTCCAGAGAAGTCATCCTGGCAACCTCTCTGGAAGGAGTTTGAAATAAACCGTATCTTTCTCAACACGCTTGTACACCCCAAGTCTAGCATAGTCACACAACAGAGAAGTTCAGTCTGGCAACACACTACAGCCGGAGACAAACTAGGTGGCCACCGTGATGGTTCAAGCCAGGAACTAGTTAATTAAAGGTTGAGGTGAGCAGGCTTGTCTGCGACATTTGCATATTTCTGACTTGCGTACTTAGAAGACGAAGGCCAGTACCCTTAAGACTGATGGTTTCCGAAAGAAACACTGTCGTCTCTAGTTGCTGTCCTCCTTCCTCCTCCCTGTCTATCCCGGAGAAAAGACCCTCAGAGAAACACCCACACTTAGTCTCTGGCCCTCGGCTCCCAGGAACGCTGCCGGAGCAACACCGCCGTCTAGGCTGGACGCTGAGAGAGGATCGTCCACGACTCACTTCAAGGCTGAACCAAGAAAACACAGTAAAGGAACTTGCCGGCGGCCGCGACGGTAGCGTCAGTTAGAAATCAGGTCTCCAGTGTTCCCAGTTCCCACCAGTCCAACTGCGAGGAGTGCGACGTGAGTCTGAGTCTGATCCCTCCGAAAACCGTACTTCCGGCGCTGTCTCGGAGGCCTCCCGTCCCCTCCCTTGTCCGTCTTCTAACTCTTCCCCACGCCAGGTCCGTCAAGCCTAAGTCCTTGAGTTCCGGGTCCGGGCAGCAGAGAAAGGAAGTCCTCTCCCTGGAGGCCTATCTCCCTCAGAACTGCGCGAGAAGCGAGACCTTAGAAGGCAGGGCTTCCCGCGAAGGACCGGAAAGGAGCGCCTACTAAGGACGCCGTCGAGGTCCGGGGCGCCTCAACTCTATAGCTCTAACTGGCTAGAAGTGCCCAACGTGGAATGTTTCTTTTTTAAAGGCGGCTCTTGAAGCGACCCGGAAGCGGAAGTGGAAGAAAGTTCTAGTGGCTTGAGGTATCCGCAGGAGCGGCCGGGTGGCGGGAGGAACCGTTACGGGAACTGAAGTTGCGGGTGAGCGCCAGCCGCGGAGCAGGGCCCTGATTGGAGGCCAGAGGGGTTGCGGGGAGAAGGGGAGGAGAGGGGTCGCAGGCGCTGTGGCGGGCCCTGGGGGAGAGCTTGGCCGCGCTGCGGGGAGGGGGCGGGGTGCAGCGCGTGGGAGCCGGGCCGCGGGAAGGGGCGGGCCGCAGCGGCGCGCGGTGGGGGCGGAGCTGGGGCGCGGCGTGAACCCCGCGGGCGGGGAGCGGGTGTGCGCAGCGCTAGGTGTGCGCTTCGCCCTGTAGGTAGAGAGACCCTTTGGTTAGCTTTCCACGCCAAGTGGCCGTTCCAGGCAGGCAGTGTCGTCTTGGTTCAGCCAAGGTCACAGAGGGAGTGATAGCTTCCGCGCAGCCCTGGCTACGGACTCTGGGCATCTTTCCACTGCCCCGCTTGCGCCACCTGTTAGGCAGGATCGTTTTTCCTCTGGGGCAAGATCAAAATCCAGGTCCTGCAGGAAGAAACTCCTCTTAAAAATAGTAGGGAAGAGTCTCCCTGGAACTGTTTTCTCCTTTCAGGATGAGGGGGATCGAGCAAGCCACTGTAACCCCTGGCTTGGCTTCCTCTTACTATGAGATTGCTCGTGGGCCCTTAGAAGTTCCAGGTCTTCAGCCCTAATCTGCCTTTTTTTTGGGATTCCTAGATTAAGCCTGATCAAGATGACAACCTCCCAAAAGCACCGAGACTTCGTGACAGAGCCCATGGGGGAGAAGCCAGTGGGGAGCCTGGCTGGGATTGGTGAAGTCCTGGGCAAGAAGCTGGAGGAAAGGGGTTTTGACAAGGTGTGGGGTGGCTGCGTGTACCTAGTGCAAGCGGGGGGTGGAAGGGAAGTGATTCCATCTGCTGGGGGATGGACAGTAAGGTATAATCTGAAGAGGCTGCCAGAGCCTGGGCACCTGGTGGAGAGGAGAGGGGGGCAAAACCCGCGCTGCTTCCTGGGCTTGTGTGCTCTGAATGGCACAGGAATGGCTGTCTTGCTCTTATCTCTCACTGAGCACTGAGCAGCACGCTCCTTCCTTTTCCCTGTTTTGCAGGCCTATGTTGTCCTTGGCCAGTTTCTGGTGCTAAAGAAAGATGAAGACCTCTTCCGGGAATGGCTGAAAGACACTTGTGGCGCCAACGCCAAGCAGTCCCGGGACTGCTTCGGATGCCTTCGAGAGTGGTGCGACGCCTTCTTGTGATGCTCTCTGGGAAGCTCTCAATCCCCAGCCCTCATCCAGAGTTTGCAGCCGAGTAGGGACTCCTCCCCTGTCCTCTACGAAGGAAAAGATTGCTATTGTCGTACTCACCTCCGACGTACTCCGGGGTCTTTTGGGAGTTTTCTCCCCTAACCATTTCAACTTTTTTTTGGATTCTCGCTCTTGCATGCCTCCCCCGTCCTTTTTCCCTTGCCAGTTCCCTGGTGACAGTTACCAGCTTTCCTGAATGGATTCCCGGCCCCATCCCTCACCCCCACCCTCACTTTCAATCCGTTTGATACCATTTGGCTCCTTTTTTGGCAGAACAGTCACTGTCCTTGTAAAGTTTTTTAGATCAATAAAGTCAGTGGCTTTCATGACTGGGCTTTGTGCACTGAAAAGCAAGTGGGCTGGGAGTTGCCTCTCCTTCAGGGACTGACCATGTTTCCCTCACTCCTTATCAGTAGAGACCGAAACTGGCAGCTTCCCTTCCACTCCCAGAGGGCAGCCACCCTAGCCATGTAGGCCTCAGGCAGGTGACTTTTGTCTCAATCCCCGAGTGATGTGGGAGAGGGTGTGGGTGGATCTTTTCCTGGGAGCCAGATGGACTGTGCTCCAGATGTCAGTTAAGTCAACAGCTGGGCTAGGCAGCACCTGGTGGAAAAGTCAGTGGGAGTCAGAGGTACCAGACAGGGTGGGCCGGATGTGGGTGAGAGTTCACCTGCCAGTCATCATCTGCTCTCCCGGCCTCTGTAAGGGTGGGCAGGGTGCTTGCCATCTTCCATGATCTCTTAGGGAGGAGAAGGAGCACAGGCATCACAGCTGGAAGGATGTGAGGGGAGTACACCTCAGTACATTTTAGTCCTGTTCTTTTTGTTTACTTTTTAACTTAATAGGGACAGGGCCCTGCTCTGTTGCCCATGCTGGCCTTAAGCGATCCTTAAGCCTCCCAAAGCGCTGTGACTATAGGTGTGAGCCACCATACCCGGCCAGCCCTATTATTTCTTGAACACTTAGTATGAACCAGGCTTGAAGCTAAAATCTTTGCAAACATTTTTTTCTTTCACAGTAATAAATATTTTCTCCTTTACAGGTGAGGAAATTTGAGGCTCAGAGAGGCTAATTTGCCCATGGACTTGCTCCTGGGAAGTAGCCAGACTGGAACTCAAACTAGCTTGGAAACCCAGGGACCCGGCCATGTGTTCCTTGGTCATGTGGCTTAGCCTCTCTGAGCCTCAGTTTCTCCACTTGGAAAATGAGGTGGTTGTAGGGAAAGGATATTTGCAGCAGTATAAACAACAAAGGACTATTTCCATAGCACATACAGAATTGCAATCAAGAAAAAAGCGGACTGGCTGGGCGCAATGGCTCACGTTTGTAATCCCAGCACTTTCAGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAGACCCCATCTCTACCAAAAATACAAAAATTAGCCGGGTGTGGTGGTGCACGCCTATAATCCCAGCTACTCAGGAGACTAAGGCAGGAGAATCGAACTTGGGAGG
|
Task1_train_16101
|
This sequence variant lies in SF3B2 (splicing factor 3b subunit 2) on Chromosome 11. Is it clinically significant, and what condition might it cause if any?
|
Pathogenic; Craniofacial microsomia 1
|
AGACTCCAGGCCGGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACGCGGTGAAACCCCGTCTCTACTAAAAAAAATACAAATAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCGCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCGCAGATAGAGCCACTGCACTCCAGCCTGGGCAACTGAGACTCTGTCTCAAAAAAAAAAAAAAATAAATAAATAAATAAAAAATAAATAAATAAAATGAGACTCCATCAGCCTTTAGTTTATCCTGCCTCAGAGACCCCGCCCCCTTCCCTAGCACCTACACATGCCTTGGGGCCCTCAGCCTCAGATGACCTGCCCTGGGCTCTCCAGTTACAGGGAGCAGAAGAGCCTTCCTTTGGGCTAGAAAGGTTCTGCCTGAGTGGGCTGACAAGCTGGAGGGAAGGGCGCTGTTTTTCTGTCTTCGTTACTGTCCTTTCCGGGTTTGGCTTCTCCTCTGGGAGTGTGGCTGCAGGAGCCTCCCATAGTGATATTGATGGAAAGGGGAAAGGTCAAGGTTTGGGTAGGAGGAAGAGGACTTCCCACCCAGTGCTAGGATGTGAGCCAACCTTTCTCAACCCAGTCCTTTTCCCTGTCTCTCCCAAACCTCACCTTCCCCCGACCTGGTGCCCCATTCTTTTTTTTTCCCTGTTCCCAGCTTCTTCTCCACTGGGGGCAGTTGGCAAAATGGAGCTGGAGAAAAGATCTGAAGGGGATGTGTAGGGGGAAAATGAGACCATTTCACTTGAGTCTCCCCACTCCCTTTCTCAACACACATAAAAAACACACACAGGCTAGCTGTTGGTGAGAGGGCAGAGCTAGTGGCAGAGGTGGGGAGAGAAACTGAATTGATGGTGTGGGACAGGGAGAGGTGGATGCTAGGCAGGCAAGAATCCCTGCCAGTCTCTGCCTCTGTCTCCAAAGGCCAAGGGGAGTTGGGGTGGGGAGTGGGAGGCAAGGTGGGGCCCCCAGTGCAGGTGCGGCTGAGGGAAAAGGGCCTGAGTTTATTTTTGAGACTAAAAAAGACACAAATGCTTTCACCAGAAACATTGTTCCTTTTTTTCCAGTAATCATTTATTGGGCGCCTCTTGAACGCCAGGCGATGCGAGACTGAAAATGATCAAGTCCCTGCTCACATTTTTGGGATAGAGGTAGGAAGAAAGGGCAAGAAAGACTTAACAAACGGTGGAGATTCGAACGTATTATGGGAGCTCTAAGAAAGGAAAGGAAAGCGGGAGGAGGCTTAGTGGAGAAGACGACATTTGAGCCGGCCTGGAAGGTGGAAAAGGGGGCTTTAGAGTCGCCCTTCCCCCAGGTCGGCAGCTGGAGCTCAGCCCGGGCAGGCCTGCTGCTCTCCCGGCTTGGATCCCCTTTCAGCCCATTCATCCGGGCCTGGGCCGGGGGTGGGCGGGCAGACAATCAGACACTGTTTTATCCCAGGCATCGGCTCCAGCCTCCCGCTTGGCGCCCGCAACGCGGGGCCGCCGGGGAAATGAGTCTCTCGGGACTCCCTGGGAGCGTAAGCGTTCGAGGATCTGACCGGAGGGCCGGGCCGGAAAGCTTGAGAGCCTTCGCTCCCGCAGGTGAGGCGCAGAAAACACTCCCTCGGGGAAGTGCCAGCCCTCCTCGCAGCCCCGCCCTCCGGCCCGCCGCCGGCCTTCGGGGCCGTAGCGGCGCGCAGGGCCCGCAGAGACCGAGACCTGCGCACTACAACTCCCAGGAGGCCTCGCGACCAGACCGCCGAGGGGCCACTAGAGAAAGGTGCGTCTGCGGCGAATCCCGTCGCCCAGCGCACGGCAGCGGGTGTGCCTGAGTGCGCGTCGCCTCCCAACCAGAGAGGACGTGGCATACGGCGCCACCGGAAGTTCCGGCAAGTGGGCCCTGAGGCTGGCCCCAGCTTCCGGGTTGGTCGCGCGCCTTCCTGCGGCTAAGATGGCGACGGAGCATCCCGAGCCTCCCAAAGCAGAATTGCAGCTGCCGCCGCCGCCACCTCCAGGCCACTATGGCGCCTGGGCTGCCCAGGAGCTTCAGGCCAAGTTGGCAGAGATCGGAGCTCCGATCCAGGGTGAGGAACACAGGAAGTCGAGGGGCCTTTACGGGCCTGCGGAGAAGCGGAGCCTGGTTACCCGGGAGACTCGGGTGCGAGGGGCGGAGGCAGGCCGCTGGGGCCTGACCTGGCCGGGCTGGCCTGCCCCATTGATCGTGTACTTTGCCCTGCAGGTAATCGCGAGGAGCTGGTGGAGCGGCTGCAGAGCTACACCCGCCAGGTAGGTGTTGGCGGCGGGACGTCAGGATAGGCCGAGCTTCTCCAGGAGACCTTATATACCCCATCACGGCTCGGTCTTCATTCTTTCTTTATCTCGGCACAGCAAGGCGGAGGCTTGCCCTTTTTAGCTTGTTCTTGCCTTTGCCAGCTTAGTTGTAATTTCTTGTATCCATCTTGGTCCTCTTCAGTGCCCAGCCAGAGCGCTGGCAGACAGGCACTGGGTACGTTTTGTTGAATGAATTGGGAGCGAACGTCGTTTAGTGAAACAGCTAGTTTTGGACTGACCTAGAGTCCTTTCTCTTTTGCAGACTGGCATCGTGCTGAATCGGCCGGTTTTGAGAGGGGAAGATGGGGACAAAGCCGCTCCACCTCCCATGTCGGCACAGGTAGGGAGATTCTTCTGTTTTTTAAGATTCCATCTGCTGATCCTTTTGTAGTTCATGAGCATGATGATTGGGTGTTCACGTGCATGTGTGAGATGTGACACCCTTGCACATTACTCGCCTGACCTGAGTGGGGAAAAAAAAAGATTCCATATGTTCAGGGTAGCCCTTCCTCTCACTTGCAGTTGTTGGGCAGGGAGGTACTGCCATGACAGAATTGTGAGCTCTTCAGTTCTCTCTTTGATGCTGACACTTGCCTCCTTTTCCACTGTCTGCTTCTCCAAAAGCAGCTTGTGGCCGGGTGCAGTGGCGCATGCCTGTAATCCCACCACTTCGGGATGCTTAGATGGGACGATCGCTTGAAGCCAGGAGTTCGAGACCAGCCTGGGCAACATAGTGAGACTCTGTTACTACAAAAAATTTTAAAAATTAGCTGGGCACGGTGGCACGCGCCTATAAAGTCCCTATAAAGAGGCTCAAGGATTGCTGGAGCCCTGGGGTTGGAGGCTGCAGTGAGCTCTGGTTGCGCCACTGTACTCCATGTACTCCATCCTGGGTGACAGAATGAGACTTTGCTTCTTTAAAAAAAAAAGGGGGGAGGTGATGGGGGAGGGGCTGGGAGAGTGTCAGAAAAAATAGCTAATGCATGCCAGGCTTAATACTTAGGCAGTGGGTTGATAGGTGCAGCAAACCACCATAGCACACATTTACCTATGTAACAAACCTGCGCATACTGCACATGTACCCGAAAACTTACAATAAAATAAAATTAAACCAAAAAATAGGAAAAAAAAAAAAGAGGCAGGGCGTGGTGGCTCATGTCTGTAATCCCAGCACTTTGAGAGGCCAAGGCAGGTGGATCGCCTGCGGTCAGGAGTTTGAAACTAGCCTGGCCAACATGGCGAAACTCTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCACATGTCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCTGGAGGTGGACGGTGCAGTGAGCCAAGATCAAGCCCCTGCACTCCAGCCTGGGCAATAGAGCGAGACTGTCTCAAAAAAAAAAAAAAGAGGCAGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGATCACTTGAGGTCACGAGTTCAAGACCAACCTGGCCAACATGGTGAAACCTTGTCTCTACTAAAAATATAAAAATTAGCCGGGCATGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATTGCTTGAACCTGGAAAGCGGAGGTTGCAGTGAGCTGAGATTG
|
AGACTCCAGGCCGGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACGCGGTGAAACCCCGTCTCTACTAAAAAAAATACAAATAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCGCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCGCAGATAGAGCCACTGCACTCCAGCCTGGGCAACTGAGACTCTGTCTCAAAAAAAAAAAAAAATAAATAAATAAATAAAAAATAAATAAATAAAATGAGACTCCATCAGCCTTTAGTTTATCCTGCCTCAGAGACCCCGCCCCCTTCCCTAGCACCTACACATGCCTTGGGGCCCTCAGCCTCAGATGACCTGCCCTGGGCTCTCCAGTTACAGGGAGCAGAAGAGCCTTCCTTTGGGCTAGAAAGGTTCTGCCTGAGTGGGCTGACAAGCTGGAGGGAAGGGCGCTGTTTTTCTGTCTTCGTTACTGTCCTTTCCGGGTTTGGCTTCTCCTCTGGGAGTGTGGCTGCAGGAGCCTCCCATAGTGATATTGATGGAAAGGGGAAAGGTCAAGGTTTGGGTAGGAGGAAGAGGACTTCCCACCCAGTGCTAGGATGTGAGCCAACCTTTCTCAACCCAGTCCTTTTCCCTGTCTCTCCCAAACCTCACCTTCCCCCGACCTGGTGCCCCATTCTTTTTTTTTCCCTGTTCCCAGCTTCTTCTCCACTGGGGGCAGTTGGCAAAATGGAGCTGGAGAAAAGATCTGAAGGGGATGTGTAGGGGGAAAATGAGACCATTTCACTTGAGTCTCCCCACTCCCTTTCTCAACACACATAAAAAACACACACAGGCTAGCTGTTGGTGAGAGGGCAGAGCTAGTGGCAGAGGTGGGGAGAGAAACTGAATTGATGGTGTGGGACAGGGAGAGGTGGATGCTAGGCAGGCAAGAATCCCTGCCAGTCTCTGCCTCTGTCTCCAAAGGCCAAGGGGAGTTGGGGTGGGGAGTGGGAGGCAAGGTGGGGCCCCCAGTGCAGGTGCGGCTGAGGGAAAAGGGCCTGAGTTTATTTTTGAGACTAAAAAAGACACAAATGCTTTCACCAGAAACATTGTTCCTTTTTTTCCAGTAATCATTTATTGGGCGCCTCTTGAACGCCAGGCGATGCGAGACTGAAAATGATCAAGTCCCTGCTCACATTTTTGGGATAGAGGTAGGAAGAAAGGGCAAGAAAGACTTAACAAACGGTGGAGATTCGAACGTATTATGGGAGCTCTAAGAAAGGAAAGGAAAGCGGGAGGAGGCTTAGTGGAGAAGACGACATTTGAGCCGGCCTGGAAGGTGGAAAAGGGGGCTTTAGAGTCGCCCTTCCCCCAGGTCGGCAGCTGGAGCTCAGCCCGGGCAGGCCTGCTGCTCTCCCGGCTTGGATCCCCTTTCAGCCCATTCATCCGGGCCTGGGCCGGGGGTGGGCGGGCAGACAATCAGACACTGTTTTATCCCAGGCATCGGCTCCAGCCTCCCGCTTGGCGCCCGCAACGCGGGGCCGCCGGGGAAATGAGTCTCTCGGGACTCCCTGGGAGCGTAAGCGTTCGAGGATCTGACCGGAGGGCCGGGCCGGAAAGCTTGAGAGCCTTCGCTCCCGCAGGTGAGGCGCAGAAAACACTCCCTCGGGGAAGTGCCAGCCCTCCTCGCAGCCCCGCCCTCCGGCCCGCCGCCGGCCTTCGGGGCCGTAGCGGCGCGCAGGGCCCGCAGAGACCGAGACCTGCGCACTACAACTCCCAGGAGGCCTCGCGACCAGACCGCCGAGGGGCCACTAGAGAAAGGTGCGTCTGCGGCGAATCCCGTCGCCCAGCGCACGGCAGCGGGTGTGCCTGAGTGCGCGTCGCCTCCCAACCAGAGAGGACGTGGCATACGGCGCCACCGGAAGTTCCGGCAAGTGGGCCCTGAGGCTGGCCCCAGCTTCCGGGTTGGTCGCGCGCCTTCCTGCGGCTAAGTTGGCGACGGAGCATCCCGAGCCTCCCAAAGCAGAATTGCAGCTGCCGCCGCCGCCACCTCCAGGCCACTATGGCGCCTGGGCTGCCCAGGAGCTTCAGGCCAAGTTGGCAGAGATCGGAGCTCCGATCCAGGGTGAGGAACACAGGAAGTCGAGGGGCCTTTACGGGCCTGCGGAGAAGCGGAGCCTGGTTACCCGGGAGACTCGGGTGCGAGGGGCGGAGGCAGGCCGCTGGGGCCTGACCTGGCCGGGCTGGCCTGCCCCATTGATCGTGTACTTTGCCCTGCAGGTAATCGCGAGGAGCTGGTGGAGCGGCTGCAGAGCTACACCCGCCAGGTAGGTGTTGGCGGCGGGACGTCAGGATAGGCCGAGCTTCTCCAGGAGACCTTATATACCCCATCACGGCTCGGTCTTCATTCTTTCTTTATCTCGGCACAGCAAGGCGGAGGCTTGCCCTTTTTAGCTTGTTCTTGCCTTTGCCAGCTTAGTTGTAATTTCTTGTATCCATCTTGGTCCTCTTCAGTGCCCAGCCAGAGCGCTGGCAGACAGGCACTGGGTACGTTTTGTTGAATGAATTGGGAGCGAACGTCGTTTAGTGAAACAGCTAGTTTTGGACTGACCTAGAGTCCTTTCTCTTTTGCAGACTGGCATCGTGCTGAATCGGCCGGTTTTGAGAGGGGAAGATGGGGACAAAGCCGCTCCACCTCCCATGTCGGCACAGGTAGGGAGATTCTTCTGTTTTTTAAGATTCCATCTGCTGATCCTTTTGTAGTTCATGAGCATGATGATTGGGTGTTCACGTGCATGTGTGAGATGTGACACCCTTGCACATTACTCGCCTGACCTGAGTGGGGAAAAAAAAAGATTCCATATGTTCAGGGTAGCCCTTCCTCTCACTTGCAGTTGTTGGGCAGGGAGGTACTGCCATGACAGAATTGTGAGCTCTTCAGTTCTCTCTTTGATGCTGACACTTGCCTCCTTTTCCACTGTCTGCTTCTCCAAAAGCAGCTTGTGGCCGGGTGCAGTGGCGCATGCCTGTAATCCCACCACTTCGGGATGCTTAGATGGGACGATCGCTTGAAGCCAGGAGTTCGAGACCAGCCTGGGCAACATAGTGAGACTCTGTTACTACAAAAAATTTTAAAAATTAGCTGGGCACGGTGGCACGCGCCTATAAAGTCCCTATAAAGAGGCTCAAGGATTGCTGGAGCCCTGGGGTTGGAGGCTGCAGTGAGCTCTGGTTGCGCCACTGTACTCCATGTACTCCATCCTGGGTGACAGAATGAGACTTTGCTTCTTTAAAAAAAAAAGGGGGGAGGTGATGGGGGAGGGGCTGGGAGAGTGTCAGAAAAAATAGCTAATGCATGCCAGGCTTAATACTTAGGCAGTGGGTTGATAGGTGCAGCAAACCACCATAGCACACATTTACCTATGTAACAAACCTGCGCATACTGCACATGTACCCGAAAACTTACAATAAAATAAAATTAAACCAAAAAATAGGAAAAAAAAAAAAGAGGCAGGGCGTGGTGGCTCATGTCTGTAATCCCAGCACTTTGAGAGGCCAAGGCAGGTGGATCGCCTGCGGTCAGGAGTTTGAAACTAGCCTGGCCAACATGGCGAAACTCTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCACATGTCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCTGGAGGTGGACGGTGCAGTGAGCCAAGATCAAGCCCCTGCACTCCAGCCTGGGCAATAGAGCGAGACTGTCTCAAAAAAAAAAAAAAGAGGCAGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGATCACTTGAGGTCACGAGTTCAAGACCAACCTGGCCAACATGGTGAAACCTTGTCTCTACTAAAAATATAAAAATTAGCCGGGCATGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATTGCTTGAACCTGGAAAGCGGAGGTTGCAGTGAGCTGAGATTG
|
Task1_train_16102
|
Here is a genetic alteration in PACS1 (phosphofurin acidic cluster sorting protein 1) on Chromosome 11. Based on the data, is it a benign variant or a cause of disease?
|
Pathogenic; Intellectual disability
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TTCAGCTGAGACCTGAAAGATGAGTTGGTTACTTGTGTTCAGAAGCCAAAAAAAGCATCCAAGAAGAGAAGAAAAGCACATGAAAAGGCCCAGAGACAAGACAGTATGCCTGGGGAGTCAGAGGGAGGATCACTTGAAGTCAGGAGTTCGAGGCCAGCCCGGCCAACATGGCAGTAAGAGGGCTGTCTAACCCAAATATTAGGTTTGGAGAGCAGGGAGGTTAAAGAGGAAGTTCCTGGGAAAAAAAAGGAACAGTGGGCAGGGAGGGTCTTACACACCCTGGGGACTGACACTACCGGCCTCTTCCCCAGGAGTGCTGGGAACTCACAGACGTTAACAAATCATTTTGCTGTGATAACCTTTTATGCACCCTACAGCATCATATATGTAAAATCAGACTTATGGTAGAGGCTTGATTCAAATAAGTACAATAAAGACTCATGAAATATTTGGACTGGTAAGAATGTTTGGGCCGGGCTCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAAGCAAGCTGATCATCTGAGGTCAGGAGTTCAAGGCCAGCACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCATTGTGGCAGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGGTAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGCGCCGAGATCACGCCACTGCAGTCCAGCCTGGGTGACAGAATGAGACTCGTCTCAAAAAAAATAAAATTTAATTTTTTTTTTTTAAAGAATGCTTGTAGAGTTTAGAAGTTGTTTGCAAACATAGTATTTCTTTTGGTCTGATTTTTGGTGACACAGCTTTGACAGATTTTTTTTTTCTTTTTATTATTGATATTATTTGAGACAGGGTCTCTCTCTGTCACCCAGGCTGGAGTGCAGTGGCAGGATCATGACTCACTGCAGGCTTGAACTCCTGGGCTCAAGTGATCCTCGCACCTCAGCCTCCTGAGTTGCTGGGACTACAGGCATGTGTACCACCACACCCAGCCAATTTTTTTTATTTTTTGTAGAAACAGGAGTCTCACTATGTTGCCCCAGGCTGGTCTCAAACTCCTGAGTCCAAGCAGTCCTTCTGCCTCAGCCTCCCAAACTGCTGGGATTACTGGCACAAGCCACTGCACCTGGCCAAACAGACTTTTCTTCTTGGTTTCAGGGTTCAAAAAGAATTCTTCGCTCCAACGAGATCGTCCTTCCAGCTAGTGGACTGGTGGAAACAGAGCTCCAATTAACCTTCTCCCTTCAGGTGAGACTCTCCTAATCTTAGGCCCCTAACATGCTATATCCTGGCTAGTCCCCAGACAGTCCTCTAACCCAGAGACTGTTTTATCCCAGAGCCCCCATTCCCCAACTTGGGCAGGAATGAATAAAAGTCACCTGGAGGTTTATGGCTGGCCTGGAGGGCCAAAGCAACCCTTTAGCCAGTGACGGTAAGGGTGTGGAGACCTGGGTAGGCACCGTGGCCCCTTCCCTTCCTCTGCCTTGGCTAACACTGTTAGCCATCTGCTGCACCACATCACATCTCCTTAGTGATCCTCGCACACCCCGTGGACTGTGCCACCATCAGCCTCCACGTCGGGATCTCCGTCCTTCCCCTCTACTCCGTATCCCTCCTAGTCGGTGTCCCTCTCATCGTAATTCCAGTAATTCAATGCCCAAATTGAAACACATGGAGAAAACACCTGATAAAGTGGCAAGGGAAGAGACAGTTCTCTGAATAGGTGTGGACCCCAGAGCTGTGGCGTAGAAGCCAGGCATCAAGCCGAATCAGCTCCACCAGCAGCAACTTCATGGCTCTCCTTTCAACCCTGACTGCCCCCTTTTAGAGACAGGAAGAATTGAAGCACAGAAAGACTGTGTGTCCTCCAGAACCCCTCAAGGACCCAGCTGCCCATTAACCACGCTCGACTCTGTTTTGTATTTCGTAGTACCCTCATTTCCTTAAGCGAGATGCCAACAAGCTGCAGATCATGCTGCAAAGGAGAAAACGTTACAAGAATCGGACCATCTTGGGCTATAAGACCTTGGCCGTGGGACTCATCAACATGGCAGAGGTGAGAGGAACACAGTCTCCAGACTGTTGGCCTTTGAGTCACAGAGCCCAAGGGACACCCCAGCCCAGCCAGTTGAGCCTTCCAGATGATTTTCCCAGCCTGCTGGCTAGGTGCTTAATTCTGTTTTACGAGTTAATTATTTGCTGGAAATTCAGAGTATACTTGTTTTTATCAAATACTGTCTCCTTCATGAAAAGTTTTAATTTTTAAACAGGTAAAACTCAAAAAATTACATAAAATTTCAAACTTTCAGAAAAGTTACAAGAATAGTACAAAGAGTTCCCATATGTGGATTCATCCAAGTTCTTTAACATATCACCACATTTCATATGCTCTCCTCATAGATATATTGATAGGTATTATTTTCTGAGCCATCCGAGAGTAAGTTGCTGGCACGATGCCCCATTACACGTTAATACTGCACCACGTTAATTTCCTTAACATGAGAATACTCTGCTGTCTAAACTCCCTGCCACCATCAAGATCAGGACACTAACGTTGAGATAAGATTGCCGTCTAACCCACAGTCCCTATTCGGATTGTGCTGAGTGTCTCAGTGATACCCTTTATGGGCCTGGGATCCGATCTAGGATTATGTGCCGCATATCACTGTGTCCTTCGTCCCCTTCGGTCTGCAGCAGCCCCTCGGTTTTCCTTACCTTTCATGACCTTGACATTTTTTAAGCGCACAGGCTGGTTACTTTTTTGAATACTCCTCAGTCCAGGTTCGCCTGATGTTGCCTCAAGATTAGATTCCACCTGTGTGTTTCTGGCAGCATTACCACAGAAGTGCTCTGTTCTCAGTGCAGCTTAGGCAGCACCTGATGGCAATTGGTTCCTTTCCTGGGGATATTAACTTTTAATTTTTTTTATTTTTACTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGAAACCCCCGCCTCCCGGGTTCAAGTGATTCTCCTACCTTAGCCTCCTGAGTAGCTGGGACTACAGGCGTGCACCACCATGCCCAGCTAATTTTTTTTTTTTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCATTCTCCTGACCTTGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACTGCGCCTGGCCTTAACTTTTTTTTTTTTTTTTTAGAGACGAGGTCTTGCTCTGTTGTCCAGGCTGGTCTCAAACTCCCAGGCTCAAGCAATCCTCCCTCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATCAGCCTCTGTGCCCGGCCTGATATTATCACTTGGTTAACATGGAGTCTGCAGGGTTTTTCCACCACAAAGTTAATTAATAAGCATTTTGTACTTACTGGAAAAAATATTTTACGAGGAGGTAAATATATTAAGGGGAGAAGAAGAAAGGCAACTATCTTTTTCCTTATCACATTTCACCCACTAGTTTTAGCATCTATTCATGATTCTTGCCTGAATTGGTCATCACTATACTTGGATGCTTACCAGACAGTGAATTTCTAATCCCACCATTCCTTACATATTTATTAATTGGCTTTATTTATTTATTTATTTTCGAGACAGAGTCTCACTTCATCACCCAGGCTGGAGTGCGCTGGCACAATCTCGGCTCACTGCAACCTCTACCTCCCGGGTTCCAGCAGTTCTCCTGCCTCAACCTCCAGAGTAGCTGGGATTACAGGGACCCGCCACCATGCCCGGCTAATTTTTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCTGGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCGCTGCTTTGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACTGCTCCCGGCCTCATTAATTGGCTTTCTGTAGTAAGATAGTGCTTTTCCTTTGCTCTCATTTATTTGTATCAGTTATGGACCGTGGGTTCCTGTTTTATTTGATGGGGCTGAA
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TTCAGCTGAGACCTGAAAGATGAGTTGGTTACTTGTGTTCAGAAGCCAAAAAAAGCATCCAAGAAGAGAAGAAAAGCACATGAAAAGGCCCAGAGACAAGACAGTATGCCTGGGGAGTCAGAGGGAGGATCACTTGAAGTCAGGAGTTCGAGGCCAGCCCGGCCAACATGGCAGTAAGAGGGCTGTCTAACCCAAATATTAGGTTTGGAGAGCAGGGAGGTTAAAGAGGAAGTTCCTGGGAAAAAAAAGGAACAGTGGGCAGGGAGGGTCTTACACACCCTGGGGACTGACACTACCGGCCTCTTCCCCAGGAGTGCTGGGAACTCACAGACGTTAACAAATCATTTTGCTGTGATAACCTTTTATGCACCCTACAGCATCATATATGTAAAATCAGACTTATGGTAGAGGCTTGATTCAAATAAGTACAATAAAGACTCATGAAATATTTGGACTGGTAAGAATGTTTGGGCCGGGCTCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAAGCAAGCTGATCATCTGAGGTCAGGAGTTCAAGGCCAGCACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCATTGTGGCAGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGGTAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGCGCCGAGATCACGCCACTGCAGTCCAGCCTGGGTGACAGAATGAGACTCGTCTCAAAAAAAATAAAATTTAATTTTTTTTTTTTAAAGAATGCTTGTAGAGTTTAGAAGTTGTTTGCAAACATAGTATTTCTTTTGGTCTGATTTTTGGTGACACAGCTTTGACAGATTTTTTTTTTCTTTTTATTATTGATATTATTTGAGACAGGGTCTCTCTCTGTCACCCAGGCTGGAGTGCAGTGGCAGGATCATGACTCACTGCAGGCTTGAACTCCTGGGCTCAAGTGATCCTCGCACCTCAGCCTCCTGAGTTGCTGGGACTACAGGCATGTGTACCACCACACCCAGCCAATTTTTTTTATTTTTTGTAGAAACAGGAGTCTCACTATGTTGCCCCAGGCTGGTCTCAAACTCCTGAGTCCAAGCAGTCCTTCTGCCTCAGCCTCCCAAACTGCTGGGATTACTGGCACAAGCCACTGCACCTGGCCAAACAGACTTTTCTTCTTGGTTTCAGGGTTCAAAAAGAATTCTTCGCTCCAACGAGATCGTCCTTCCAGCTAGTGGACTGGTGGAAACAGAGCTCCAATTAACCTTCTCCCTTCAGGTGAGACTCTCCTAATCTTAGGCCCCTAACATGCTATATCCTGGCTAGTCCCCAGACAGTCCTCTAACCCAGAGACTGTTTTATCCCAGAGCCCCCATTCCCCAACTTGGGCAGGAATGAATAAAAGTCACCTGGAGGTTTATGGCTGGCCTGGAGGGCCAAAGCAACCCTTTAGCCAGTGACGGTAAGGGTGTGGAGACCTGGGTAGGCACCGTGGCCCCTTCCCTTCCTCTGCCTTGGCTAACACTGTTAGCCATCTGCTGCACCACATCACATCTCCTTAGTGATCCTCGCACACCCCGTGGACTGTGCCACCATCAGCCTCCACGTCGGGATCTCCGTCCTTCCCCTCTACTCCGTATCCCTCCTAGTCGGTGTCCCTCTCATCGTAATTCCAGTAATTCAATGCCCAAATTGAAACACATGGAGAAAACACCTGATAAAGTGGCAAGGGAAGAGACAGTTCTCTGAATAGGTGTGGACCCCAGAGCTGTGGCGTAGAAGCCAGGCATCAAGCCGAATCAGCTCCACCAGCAGCAACTTCATGGCTCTCCTTTCAACCCTGACTGCCCCCTTTTAGAGACAGGAAGAATTGAAGCACAGAAAGACTGTGTGTCCTCCAGAACCCCTCAAGGACCCAGCTGCCCATTAACCACGCTCGACTCTGTTTTGTATTTCGTAGTACCCTCATTTCCTTAAGCGAGATGCCAACAAGCTGCAGATCATGCTGCAAAGGAGAAAACGTTACAAGAATTGGACCATCTTGGGCTATAAGACCTTGGCCGTGGGACTCATCAACATGGCAGAGGTGAGAGGAACACAGTCTCCAGACTGTTGGCCTTTGAGTCACAGAGCCCAAGGGACACCCCAGCCCAGCCAGTTGAGCCTTCCAGATGATTTTCCCAGCCTGCTGGCTAGGTGCTTAATTCTGTTTTACGAGTTAATTATTTGCTGGAAATTCAGAGTATACTTGTTTTTATCAAATACTGTCTCCTTCATGAAAAGTTTTAATTTTTAAACAGGTAAAACTCAAAAAATTACATAAAATTTCAAACTTTCAGAAAAGTTACAAGAATAGTACAAAGAGTTCCCATATGTGGATTCATCCAAGTTCTTTAACATATCACCACATTTCATATGCTCTCCTCATAGATATATTGATAGGTATTATTTTCTGAGCCATCCGAGAGTAAGTTGCTGGCACGATGCCCCATTACACGTTAATACTGCACCACGTTAATTTCCTTAACATGAGAATACTCTGCTGTCTAAACTCCCTGCCACCATCAAGATCAGGACACTAACGTTGAGATAAGATTGCCGTCTAACCCACAGTCCCTATTCGGATTGTGCTGAGTGTCTCAGTGATACCCTTTATGGGCCTGGGATCCGATCTAGGATTATGTGCCGCATATCACTGTGTCCTTCGTCCCCTTCGGTCTGCAGCAGCCCCTCGGTTTTCCTTACCTTTCATGACCTTGACATTTTTTAAGCGCACAGGCTGGTTACTTTTTTGAATACTCCTCAGTCCAGGTTCGCCTGATGTTGCCTCAAGATTAGATTCCACCTGTGTGTTTCTGGCAGCATTACCACAGAAGTGCTCTGTTCTCAGTGCAGCTTAGGCAGCACCTGATGGCAATTGGTTCCTTTCCTGGGGATATTAACTTTTAATTTTTTTTATTTTTACTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGAAACCCCCGCCTCCCGGGTTCAAGTGATTCTCCTACCTTAGCCTCCTGAGTAGCTGGGACTACAGGCGTGCACCACCATGCCCAGCTAATTTTTTTTTTTTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCATTCTCCTGACCTTGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACTGCGCCTGGCCTTAACTTTTTTTTTTTTTTTTTAGAGACGAGGTCTTGCTCTGTTGTCCAGGCTGGTCTCAAACTCCCAGGCTCAAGCAATCCTCCCTCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATCAGCCTCTGTGCCCGGCCTGATATTATCACTTGGTTAACATGGAGTCTGCAGGGTTTTTCCACCACAAAGTTAATTAATAAGCATTTTGTACTTACTGGAAAAAATATTTTACGAGGAGGTAAATATATTAAGGGGAGAAGAAGAAAGGCAACTATCTTTTTCCTTATCACATTTCACCCACTAGTTTTAGCATCTATTCATGATTCTTGCCTGAATTGGTCATCACTATACTTGGATGCTTACCAGACAGTGAATTTCTAATCCCACCATTCCTTACATATTTATTAATTGGCTTTATTTATTTATTTATTTTCGAGACAGAGTCTCACTTCATCACCCAGGCTGGAGTGCGCTGGCACAATCTCGGCTCACTGCAACCTCTACCTCCCGGGTTCCAGCAGTTCTCCTGCCTCAACCTCCAGAGTAGCTGGGATTACAGGGACCCGCCACCATGCCCGGCTAATTTTTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCTGGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCGCTGCTTTGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACTGCTCCCGGCCTCATTAATTGGCTTTCTGTAGTAAGATAGTGCTTTTCCTTTGCTCTCATTTATTTGTATCAGTTATGGACCGTGGGTTCCTGTTTTATTTGATGGGGCTGAA
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Task1_train_16103
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The following genetic variant occurs in PACS1 (phosphofurin acidic cluster sorting protein 1) on Chromosome 11. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; See cases
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TTCAGCTGAGACCTGAAAGATGAGTTGGTTACTTGTGTTCAGAAGCCAAAAAAAGCATCCAAGAAGAGAAGAAAAGCACATGAAAAGGCCCAGAGACAAGACAGTATGCCTGGGGAGTCAGAGGGAGGATCACTTGAAGTCAGGAGTTCGAGGCCAGCCCGGCCAACATGGCAGTAAGAGGGCTGTCTAACCCAAATATTAGGTTTGGAGAGCAGGGAGGTTAAAGAGGAAGTTCCTGGGAAAAAAAAGGAACAGTGGGCAGGGAGGGTCTTACACACCCTGGGGACTGACACTACCGGCCTCTTCCCCAGGAGTGCTGGGAACTCACAGACGTTAACAAATCATTTTGCTGTGATAACCTTTTATGCACCCTACAGCATCATATATGTAAAATCAGACTTATGGTAGAGGCTTGATTCAAATAAGTACAATAAAGACTCATGAAATATTTGGACTGGTAAGAATGTTTGGGCCGGGCTCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAAGCAAGCTGATCATCTGAGGTCAGGAGTTCAAGGCCAGCACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCATTGTGGCAGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGGTAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGCGCCGAGATCACGCCACTGCAGTCCAGCCTGGGTGACAGAATGAGACTCGTCTCAAAAAAAATAAAATTTAATTTTTTTTTTTTAAAGAATGCTTGTAGAGTTTAGAAGTTGTTTGCAAACATAGTATTTCTTTTGGTCTGATTTTTGGTGACACAGCTTTGACAGATTTTTTTTTTCTTTTTATTATTGATATTATTTGAGACAGGGTCTCTCTCTGTCACCCAGGCTGGAGTGCAGTGGCAGGATCATGACTCACTGCAGGCTTGAACTCCTGGGCTCAAGTGATCCTCGCACCTCAGCCTCCTGAGTTGCTGGGACTACAGGCATGTGTACCACCACACCCAGCCAATTTTTTTTATTTTTTGTAGAAACAGGAGTCTCACTATGTTGCCCCAGGCTGGTCTCAAACTCCTGAGTCCAAGCAGTCCTTCTGCCTCAGCCTCCCAAACTGCTGGGATTACTGGCACAAGCCACTGCACCTGGCCAAACAGACTTTTCTTCTTGGTTTCAGGGTTCAAAAAGAATTCTTCGCTCCAACGAGATCGTCCTTCCAGCTAGTGGACTGGTGGAAACAGAGCTCCAATTAACCTTCTCCCTTCAGGTGAGACTCTCCTAATCTTAGGCCCCTAACATGCTATATCCTGGCTAGTCCCCAGACAGTCCTCTAACCCAGAGACTGTTTTATCCCAGAGCCCCCATTCCCCAACTTGGGCAGGAATGAATAAAAGTCACCTGGAGGTTTATGGCTGGCCTGGAGGGCCAAAGCAACCCTTTAGCCAGTGACGGTAAGGGTGTGGAGACCTGGGTAGGCACCGTGGCCCCTTCCCTTCCTCTGCCTTGGCTAACACTGTTAGCCATCTGCTGCACCACATCACATCTCCTTAGTGATCCTCGCACACCCCGTGGACTGTGCCACCATCAGCCTCCACGTCGGGATCTCCGTCCTTCCCCTCTACTCCGTATCCCTCCTAGTCGGTGTCCCTCTCATCGTAATTCCAGTAATTCAATGCCCAAATTGAAACACATGGAGAAAACACCTGATAAAGTGGCAAGGGAAGAGACAGTTCTCTGAATAGGTGTGGACCCCAGAGCTGTGGCGTAGAAGCCAGGCATCAAGCCGAATCAGCTCCACCAGCAGCAACTTCATGGCTCTCCTTTCAACCCTGACTGCCCCCTTTTAGAGACAGGAAGAATTGAAGCACAGAAAGACTGTGTGTCCTCCAGAACCCCTCAAGGACCCAGCTGCCCATTAACCACGCTCGACTCTGTTTTGTATTTCGTAGTACCCTCATTTCCTTAAGCGAGATGCCAACAAGCTGCAGATCATGCTGCAAAGGAGAAAACGTTACAAGAATCGGACCATCTTGGGCTATAAGACCTTGGCCGTGGGACTCATCAACATGGCAGAGGTGAGAGGAACACAGTCTCCAGACTGTTGGCCTTTGAGTCACAGAGCCCAAGGGACACCCCAGCCCAGCCAGTTGAGCCTTCCAGATGATTTTCCCAGCCTGCTGGCTAGGTGCTTAATTCTGTTTTACGAGTTAATTATTTGCTGGAAATTCAGAGTATACTTGTTTTTATCAAATACTGTCTCCTTCATGAAAAGTTTTAATTTTTAAACAGGTAAAACTCAAAAAATTACATAAAATTTCAAACTTTCAGAAAAGTTACAAGAATAGTACAAAGAGTTCCCATATGTGGATTCATCCAAGTTCTTTAACATATCACCACATTTCATATGCTCTCCTCATAGATATATTGATAGGTATTATTTTCTGAGCCATCCGAGAGTAAGTTGCTGGCACGATGCCCCATTACACGTTAATACTGCACCACGTTAATTTCCTTAACATGAGAATACTCTGCTGTCTAAACTCCCTGCCACCATCAAGATCAGGACACTAACGTTGAGATAAGATTGCCGTCTAACCCACAGTCCCTATTCGGATTGTGCTGAGTGTCTCAGTGATACCCTTTATGGGCCTGGGATCCGATCTAGGATTATGTGCCGCATATCACTGTGTCCTTCGTCCCCTTCGGTCTGCAGCAGCCCCTCGGTTTTCCTTACCTTTCATGACCTTGACATTTTTTAAGCGCACAGGCTGGTTACTTTTTTGAATACTCCTCAGTCCAGGTTCGCCTGATGTTGCCTCAAGATTAGATTCCACCTGTGTGTTTCTGGCAGCATTACCACAGAAGTGCTCTGTTCTCAGTGCAGCTTAGGCAGCACCTGATGGCAATTGGTTCCTTTCCTGGGGATATTAACTTTTAATTTTTTTTATTTTTACTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGAAACCCCCGCCTCCCGGGTTCAAGTGATTCTCCTACCTTAGCCTCCTGAGTAGCTGGGACTACAGGCGTGCACCACCATGCCCAGCTAATTTTTTTTTTTTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCATTCTCCTGACCTTGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACTGCGCCTGGCCTTAACTTTTTTTTTTTTTTTTTAGAGACGAGGTCTTGCTCTGTTGTCCAGGCTGGTCTCAAACTCCCAGGCTCAAGCAATCCTCCCTCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATCAGCCTCTGTGCCCGGCCTGATATTATCACTTGGTTAACATGGAGTCTGCAGGGTTTTTCCACCACAAAGTTAATTAATAAGCATTTTGTACTTACTGGAAAAAATATTTTACGAGGAGGTAAATATATTAAGGGGAGAAGAAGAAAGGCAACTATCTTTTTCCTTATCACATTTCACCCACTAGTTTTAGCATCTATTCATGATTCTTGCCTGAATTGGTCATCACTATACTTGGATGCTTACCAGACAGTGAATTTCTAATCCCACCATTCCTTACATATTTATTAATTGGCTTTATTTATTTATTTATTTTCGAGACAGAGTCTCACTTCATCACCCAGGCTGGAGTGCGCTGGCACAATCTCGGCTCACTGCAACCTCTACCTCCCGGGTTCCAGCAGTTCTCCTGCCTCAACCTCCAGAGTAGCTGGGATTACAGGGACCCGCCACCATGCCCGGCTAATTTTTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCTGGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCGCTGCTTTGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACTGCTCCCGGCCTCATTAATTGGCTTTCTGTAGTAAGATAGTGCTTTTCCTTTGCTCTCATTTATTTGTATCAGTTATGGACCGTGGGTTCCTGTTTTATTTGATGGGGCTGAA
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TTCAGCTGAGACCTGAAAGATGAGTTGGTTACTTGTGTTCAGAAGCCAAAAAAAGCATCCAAGAAGAGAAGAAAAGCACATGAAAAGGCCCAGAGACAAGACAGTATGCCTGGGGAGTCAGAGGGAGGATCACTTGAAGTCAGGAGTTCGAGGCCAGCCCGGCCAACATGGCAGTAAGAGGGCTGTCTAACCCAAATATTAGGTTTGGAGAGCAGGGAGGTTAAAGAGGAAGTTCCTGGGAAAAAAAAGGAACAGTGGGCAGGGAGGGTCTTACACACCCTGGGGACTGACACTACCGGCCTCTTCCCCAGGAGTGCTGGGAACTCACAGACGTTAACAAATCATTTTGCTGTGATAACCTTTTATGCACCCTACAGCATCATATATGTAAAATCAGACTTATGGTAGAGGCTTGATTCAAATAAGTACAATAAAGACTCATGAAATATTTGGACTGGTAAGAATGTTTGGGCCGGGCTCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAAGCAAGCTGATCATCTGAGGTCAGGAGTTCAAGGCCAGCACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCATTGTGGCAGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGGTAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGCGCCGAGATCACGCCACTGCAGTCCAGCCTGGGTGACAGAATGAGACTCGTCTCAAAAAAAATAAAATTTAATTTTTTTTTTTTAAAGAATGCTTGTAGAGTTTAGAAGTTGTTTGCAAACATAGTATTTCTTTTGGTCTGATTTTTGGTGACACAGCTTTGACAGATTTTTTTTTTCTTTTTATTATTGATATTATTTGAGACAGGGTCTCTCTCTGTCACCCAGGCTGGAGTGCAGTGGCAGGATCATGACTCACTGCAGGCTTGAACTCCTGGGCTCAAGTGATCCTCGCACCTCAGCCTCCTGAGTTGCTGGGACTACAGGCATGTGTACCACCACACCCAGCCAATTTTTTTTATTTTTTGTAGAAACAGGAGTCTCACTATGTTGCCCCAGGCTGGTCTCAAACTCCTGAGTCCAAGCAGTCCTTCTGCCTCAGCCTCCCAAACTGCTGGGATTACTGGCACAAGCCACTGCACCTGGCCAAACAGACTTTTCTTCTTGGTTTCAGGGTTCAAAAAGAATTCTTCGCTCCAACGAGATCGTCCTTCCAGCTAGTGGACTGGTGGAAACAGAGCTCCAATTAACCTTCTCCCTTCAGGTGAGACTCTCCTAATCTTAGGCCCCTAACATGCTATATCCTGGCTAGTCCCCAGACAGTCCTCTAACCCAGAGACTGTTTTATCCCAGAGCCCCCATTCCCCAACTTGGGCAGGAATGAATAAAAGTCACCTGGAGGTTTATGGCTGGCCTGGAGGGCCAAAGCAACCCTTTAGCCAGTGACGGTAAGGGTGTGGAGACCTGGGTAGGCACCGTGGCCCCTTCCCTTCCTCTGCCTTGGCTAACACTGTTAGCCATCTGCTGCACCACATCACATCTCCTTAGTGATCCTCGCACACCCCGTGGACTGTGCCACCATCAGCCTCCACGTCGGGATCTCCGTCCTTCCCCTCTACTCCGTATCCCTCCTAGTCGGTGTCCCTCTCATCGTAATTCCAGTAATTCAATGCCCAAATTGAAACACATGGAGAAAACACCTGATAAAGTGGCAAGGGAAGAGACAGTTCTCTGAATAGGTGTGGACCCCAGAGCTGTGGCGTAGAAGCCAGGCATCAAGCCGAATCAGCTCCACCAGCAGCAACTTCATGGCTCTCCTTTCAACCCTGACTGCCCCCTTTTAGAGACAGGAAGAATTGAAGCACAGAAAGACTGTGTGTCCTCCAGAACCCCTCAAGGACCCAGCTGCCCATTAACCACGCTCGACTCTGTTTTGTATTTCGTAGTACCCTCATTTCCTTAAGCGAGATGCCAACAAGCTGCAGATCATGCTGCAAAGGAGAAAACGTTACAAGAATTGGACCATCTTGGGCTATAAGACCTTGGCCGTGGGACTCATCAACATGGCAGAGGTGAGAGGAACACAGTCTCCAGACTGTTGGCCTTTGAGTCACAGAGCCCAAGGGACACCCCAGCCCAGCCAGTTGAGCCTTCCAGATGATTTTCCCAGCCTGCTGGCTAGGTGCTTAATTCTGTTTTACGAGTTAATTATTTGCTGGAAATTCAGAGTATACTTGTTTTTATCAAATACTGTCTCCTTCATGAAAAGTTTTAATTTTTAAACAGGTAAAACTCAAAAAATTACATAAAATTTCAAACTTTCAGAAAAGTTACAAGAATAGTACAAAGAGTTCCCATATGTGGATTCATCCAAGTTCTTTAACATATCACCACATTTCATATGCTCTCCTCATAGATATATTGATAGGTATTATTTTCTGAGCCATCCGAGAGTAAGTTGCTGGCACGATGCCCCATTACACGTTAATACTGCACCACGTTAATTTCCTTAACATGAGAATACTCTGCTGTCTAAACTCCCTGCCACCATCAAGATCAGGACACTAACGTTGAGATAAGATTGCCGTCTAACCCACAGTCCCTATTCGGATTGTGCTGAGTGTCTCAGTGATACCCTTTATGGGCCTGGGATCCGATCTAGGATTATGTGCCGCATATCACTGTGTCCTTCGTCCCCTTCGGTCTGCAGCAGCCCCTCGGTTTTCCTTACCTTTCATGACCTTGACATTTTTTAAGCGCACAGGCTGGTTACTTTTTTGAATACTCCTCAGTCCAGGTTCGCCTGATGTTGCCTCAAGATTAGATTCCACCTGTGTGTTTCTGGCAGCATTACCACAGAAGTGCTCTGTTCTCAGTGCAGCTTAGGCAGCACCTGATGGCAATTGGTTCCTTTCCTGGGGATATTAACTTTTAATTTTTTTTATTTTTACTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGAAACCCCCGCCTCCCGGGTTCAAGTGATTCTCCTACCTTAGCCTCCTGAGTAGCTGGGACTACAGGCGTGCACCACCATGCCCAGCTAATTTTTTTTTTTTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCATTCTCCTGACCTTGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACTGCGCCTGGCCTTAACTTTTTTTTTTTTTTTTTAGAGACGAGGTCTTGCTCTGTTGTCCAGGCTGGTCTCAAACTCCCAGGCTCAAGCAATCCTCCCTCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATCAGCCTCTGTGCCCGGCCTGATATTATCACTTGGTTAACATGGAGTCTGCAGGGTTTTTCCACCACAAAGTTAATTAATAAGCATTTTGTACTTACTGGAAAAAATATTTTACGAGGAGGTAAATATATTAAGGGGAGAAGAAGAAAGGCAACTATCTTTTTCCTTATCACATTTCACCCACTAGTTTTAGCATCTATTCATGATTCTTGCCTGAATTGGTCATCACTATACTTGGATGCTTACCAGACAGTGAATTTCTAATCCCACCATTCCTTACATATTTATTAATTGGCTTTATTTATTTATTTATTTTCGAGACAGAGTCTCACTTCATCACCCAGGCTGGAGTGCGCTGGCACAATCTCGGCTCACTGCAACCTCTACCTCCCGGGTTCCAGCAGTTCTCCTGCCTCAACCTCCAGAGTAGCTGGGATTACAGGGACCCGCCACCATGCCCGGCTAATTTTTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCTGGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCGCTGCTTTGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACTGCTCCCGGCCTCATTAATTGGCTTTCTGTAGTAAGATAGTGCTTTTCCTTTGCTCTCATTTATTTGTATCAGTTATGGACCGTGGGTTCCTGTTTTATTTGATGGGGCTGAA
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Task1_train_16104
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A variant has been detected on Chromosome 11 in PACS1 (phosphofurin acidic cluster sorting protein 1). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Schuurs-Hoeijmakers syndrome
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TTCAGCTGAGACCTGAAAGATGAGTTGGTTACTTGTGTTCAGAAGCCAAAAAAAGCATCCAAGAAGAGAAGAAAAGCACATGAAAAGGCCCAGAGACAAGACAGTATGCCTGGGGAGTCAGAGGGAGGATCACTTGAAGTCAGGAGTTCGAGGCCAGCCCGGCCAACATGGCAGTAAGAGGGCTGTCTAACCCAAATATTAGGTTTGGAGAGCAGGGAGGTTAAAGAGGAAGTTCCTGGGAAAAAAAAGGAACAGTGGGCAGGGAGGGTCTTACACACCCTGGGGACTGACACTACCGGCCTCTTCCCCAGGAGTGCTGGGAACTCACAGACGTTAACAAATCATTTTGCTGTGATAACCTTTTATGCACCCTACAGCATCATATATGTAAAATCAGACTTATGGTAGAGGCTTGATTCAAATAAGTACAATAAAGACTCATGAAATATTTGGACTGGTAAGAATGTTTGGGCCGGGCTCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAAGCAAGCTGATCATCTGAGGTCAGGAGTTCAAGGCCAGCACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCATTGTGGCAGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGGTAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGCGCCGAGATCACGCCACTGCAGTCCAGCCTGGGTGACAGAATGAGACTCGTCTCAAAAAAAATAAAATTTAATTTTTTTTTTTTAAAGAATGCTTGTAGAGTTTAGAAGTTGTTTGCAAACATAGTATTTCTTTTGGTCTGATTTTTGGTGACACAGCTTTGACAGATTTTTTTTTTCTTTTTATTATTGATATTATTTGAGACAGGGTCTCTCTCTGTCACCCAGGCTGGAGTGCAGTGGCAGGATCATGACTCACTGCAGGCTTGAACTCCTGGGCTCAAGTGATCCTCGCACCTCAGCCTCCTGAGTTGCTGGGACTACAGGCATGTGTACCACCACACCCAGCCAATTTTTTTTATTTTTTGTAGAAACAGGAGTCTCACTATGTTGCCCCAGGCTGGTCTCAAACTCCTGAGTCCAAGCAGTCCTTCTGCCTCAGCCTCCCAAACTGCTGGGATTACTGGCACAAGCCACTGCACCTGGCCAAACAGACTTTTCTTCTTGGTTTCAGGGTTCAAAAAGAATTCTTCGCTCCAACGAGATCGTCCTTCCAGCTAGTGGACTGGTGGAAACAGAGCTCCAATTAACCTTCTCCCTTCAGGTGAGACTCTCCTAATCTTAGGCCCCTAACATGCTATATCCTGGCTAGTCCCCAGACAGTCCTCTAACCCAGAGACTGTTTTATCCCAGAGCCCCCATTCCCCAACTTGGGCAGGAATGAATAAAAGTCACCTGGAGGTTTATGGCTGGCCTGGAGGGCCAAAGCAACCCTTTAGCCAGTGACGGTAAGGGTGTGGAGACCTGGGTAGGCACCGTGGCCCCTTCCCTTCCTCTGCCTTGGCTAACACTGTTAGCCATCTGCTGCACCACATCACATCTCCTTAGTGATCCTCGCACACCCCGTGGACTGTGCCACCATCAGCCTCCACGTCGGGATCTCCGTCCTTCCCCTCTACTCCGTATCCCTCCTAGTCGGTGTCCCTCTCATCGTAATTCCAGTAATTCAATGCCCAAATTGAAACACATGGAGAAAACACCTGATAAAGTGGCAAGGGAAGAGACAGTTCTCTGAATAGGTGTGGACCCCAGAGCTGTGGCGTAGAAGCCAGGCATCAAGCCGAATCAGCTCCACCAGCAGCAACTTCATGGCTCTCCTTTCAACCCTGACTGCCCCCTTTTAGAGACAGGAAGAATTGAAGCACAGAAAGACTGTGTGTCCTCCAGAACCCCTCAAGGACCCAGCTGCCCATTAACCACGCTCGACTCTGTTTTGTATTTCGTAGTACCCTCATTTCCTTAAGCGAGATGCCAACAAGCTGCAGATCATGCTGCAAAGGAGAAAACGTTACAAGAATCGGACCATCTTGGGCTATAAGACCTTGGCCGTGGGACTCATCAACATGGCAGAGGTGAGAGGAACACAGTCTCCAGACTGTTGGCCTTTGAGTCACAGAGCCCAAGGGACACCCCAGCCCAGCCAGTTGAGCCTTCCAGATGATTTTCCCAGCCTGCTGGCTAGGTGCTTAATTCTGTTTTACGAGTTAATTATTTGCTGGAAATTCAGAGTATACTTGTTTTTATCAAATACTGTCTCCTTCATGAAAAGTTTTAATTTTTAAACAGGTAAAACTCAAAAAATTACATAAAATTTCAAACTTTCAGAAAAGTTACAAGAATAGTACAAAGAGTTCCCATATGTGGATTCATCCAAGTTCTTTAACATATCACCACATTTCATATGCTCTCCTCATAGATATATTGATAGGTATTATTTTCTGAGCCATCCGAGAGTAAGTTGCTGGCACGATGCCCCATTACACGTTAATACTGCACCACGTTAATTTCCTTAACATGAGAATACTCTGCTGTCTAAACTCCCTGCCACCATCAAGATCAGGACACTAACGTTGAGATAAGATTGCCGTCTAACCCACAGTCCCTATTCGGATTGTGCTGAGTGTCTCAGTGATACCCTTTATGGGCCTGGGATCCGATCTAGGATTATGTGCCGCATATCACTGTGTCCTTCGTCCCCTTCGGTCTGCAGCAGCCCCTCGGTTTTCCTTACCTTTCATGACCTTGACATTTTTTAAGCGCACAGGCTGGTTACTTTTTTGAATACTCCTCAGTCCAGGTTCGCCTGATGTTGCCTCAAGATTAGATTCCACCTGTGTGTTTCTGGCAGCATTACCACAGAAGTGCTCTGTTCTCAGTGCAGCTTAGGCAGCACCTGATGGCAATTGGTTCCTTTCCTGGGGATATTAACTTTTAATTTTTTTTATTTTTACTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGAAACCCCCGCCTCCCGGGTTCAAGTGATTCTCCTACCTTAGCCTCCTGAGTAGCTGGGACTACAGGCGTGCACCACCATGCCCAGCTAATTTTTTTTTTTTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCATTCTCCTGACCTTGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACTGCGCCTGGCCTTAACTTTTTTTTTTTTTTTTTAGAGACGAGGTCTTGCTCTGTTGTCCAGGCTGGTCTCAAACTCCCAGGCTCAAGCAATCCTCCCTCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATCAGCCTCTGTGCCCGGCCTGATATTATCACTTGGTTAACATGGAGTCTGCAGGGTTTTTCCACCACAAAGTTAATTAATAAGCATTTTGTACTTACTGGAAAAAATATTTTACGAGGAGGTAAATATATTAAGGGGAGAAGAAGAAAGGCAACTATCTTTTTCCTTATCACATTTCACCCACTAGTTTTAGCATCTATTCATGATTCTTGCCTGAATTGGTCATCACTATACTTGGATGCTTACCAGACAGTGAATTTCTAATCCCACCATTCCTTACATATTTATTAATTGGCTTTATTTATTTATTTATTTTCGAGACAGAGTCTCACTTCATCACCCAGGCTGGAGTGCGCTGGCACAATCTCGGCTCACTGCAACCTCTACCTCCCGGGTTCCAGCAGTTCTCCTGCCTCAACCTCCAGAGTAGCTGGGATTACAGGGACCCGCCACCATGCCCGGCTAATTTTTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCTGGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCGCTGCTTTGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACTGCTCCCGGCCTCATTAATTGGCTTTCTGTAGTAAGATAGTGCTTTTCCTTTGCTCTCATTTATTTGTATCAGTTATGGACCGTGGGTTCCTGTTTTATTTGATGGGGCTGAA
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TTCAGCTGAGACCTGAAAGATGAGTTGGTTACTTGTGTTCAGAAGCCAAAAAAAGCATCCAAGAAGAGAAGAAAAGCACATGAAAAGGCCCAGAGACAAGACAGTATGCCTGGGGAGTCAGAGGGAGGATCACTTGAAGTCAGGAGTTCGAGGCCAGCCCGGCCAACATGGCAGTAAGAGGGCTGTCTAACCCAAATATTAGGTTTGGAGAGCAGGGAGGTTAAAGAGGAAGTTCCTGGGAAAAAAAAGGAACAGTGGGCAGGGAGGGTCTTACACACCCTGGGGACTGACACTACCGGCCTCTTCCCCAGGAGTGCTGGGAACTCACAGACGTTAACAAATCATTTTGCTGTGATAACCTTTTATGCACCCTACAGCATCATATATGTAAAATCAGACTTATGGTAGAGGCTTGATTCAAATAAGTACAATAAAGACTCATGAAATATTTGGACTGGTAAGAATGTTTGGGCCGGGCTCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAAGCAAGCTGATCATCTGAGGTCAGGAGTTCAAGGCCAGCACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCATTGTGGCAGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGGTAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGCGCCGAGATCACGCCACTGCAGTCCAGCCTGGGTGACAGAATGAGACTCGTCTCAAAAAAAATAAAATTTAATTTTTTTTTTTTAAAGAATGCTTGTAGAGTTTAGAAGTTGTTTGCAAACATAGTATTTCTTTTGGTCTGATTTTTGGTGACACAGCTTTGACAGATTTTTTTTTTCTTTTTATTATTGATATTATTTGAGACAGGGTCTCTCTCTGTCACCCAGGCTGGAGTGCAGTGGCAGGATCATGACTCACTGCAGGCTTGAACTCCTGGGCTCAAGTGATCCTCGCACCTCAGCCTCCTGAGTTGCTGGGACTACAGGCATGTGTACCACCACACCCAGCCAATTTTTTTTATTTTTTGTAGAAACAGGAGTCTCACTATGTTGCCCCAGGCTGGTCTCAAACTCCTGAGTCCAAGCAGTCCTTCTGCCTCAGCCTCCCAAACTGCTGGGATTACTGGCACAAGCCACTGCACCTGGCCAAACAGACTTTTCTTCTTGGTTTCAGGGTTCAAAAAGAATTCTTCGCTCCAACGAGATCGTCCTTCCAGCTAGTGGACTGGTGGAAACAGAGCTCCAATTAACCTTCTCCCTTCAGGTGAGACTCTCCTAATCTTAGGCCCCTAACATGCTATATCCTGGCTAGTCCCCAGACAGTCCTCTAACCCAGAGACTGTTTTATCCCAGAGCCCCCATTCCCCAACTTGGGCAGGAATGAATAAAAGTCACCTGGAGGTTTATGGCTGGCCTGGAGGGCCAAAGCAACCCTTTAGCCAGTGACGGTAAGGGTGTGGAGACCTGGGTAGGCACCGTGGCCCCTTCCCTTCCTCTGCCTTGGCTAACACTGTTAGCCATCTGCTGCACCACATCACATCTCCTTAGTGATCCTCGCACACCCCGTGGACTGTGCCACCATCAGCCTCCACGTCGGGATCTCCGTCCTTCCCCTCTACTCCGTATCCCTCCTAGTCGGTGTCCCTCTCATCGTAATTCCAGTAATTCAATGCCCAAATTGAAACACATGGAGAAAACACCTGATAAAGTGGCAAGGGAAGAGACAGTTCTCTGAATAGGTGTGGACCCCAGAGCTGTGGCGTAGAAGCCAGGCATCAAGCCGAATCAGCTCCACCAGCAGCAACTTCATGGCTCTCCTTTCAACCCTGACTGCCCCCTTTTAGAGACAGGAAGAATTGAAGCACAGAAAGACTGTGTGTCCTCCAGAACCCCTCAAGGACCCAGCTGCCCATTAACCACGCTCGACTCTGTTTTGTATTTCGTAGTACCCTCATTTCCTTAAGCGAGATGCCAACAAGCTGCAGATCATGCTGCAAAGGAGAAAACGTTACAAGAATTGGACCATCTTGGGCTATAAGACCTTGGCCGTGGGACTCATCAACATGGCAGAGGTGAGAGGAACACAGTCTCCAGACTGTTGGCCTTTGAGTCACAGAGCCCAAGGGACACCCCAGCCCAGCCAGTTGAGCCTTCCAGATGATTTTCCCAGCCTGCTGGCTAGGTGCTTAATTCTGTTTTACGAGTTAATTATTTGCTGGAAATTCAGAGTATACTTGTTTTTATCAAATACTGTCTCCTTCATGAAAAGTTTTAATTTTTAAACAGGTAAAACTCAAAAAATTACATAAAATTTCAAACTTTCAGAAAAGTTACAAGAATAGTACAAAGAGTTCCCATATGTGGATTCATCCAAGTTCTTTAACATATCACCACATTTCATATGCTCTCCTCATAGATATATTGATAGGTATTATTTTCTGAGCCATCCGAGAGTAAGTTGCTGGCACGATGCCCCATTACACGTTAATACTGCACCACGTTAATTTCCTTAACATGAGAATACTCTGCTGTCTAAACTCCCTGCCACCATCAAGATCAGGACACTAACGTTGAGATAAGATTGCCGTCTAACCCACAGTCCCTATTCGGATTGTGCTGAGTGTCTCAGTGATACCCTTTATGGGCCTGGGATCCGATCTAGGATTATGTGCCGCATATCACTGTGTCCTTCGTCCCCTTCGGTCTGCAGCAGCCCCTCGGTTTTCCTTACCTTTCATGACCTTGACATTTTTTAAGCGCACAGGCTGGTTACTTTTTTGAATACTCCTCAGTCCAGGTTCGCCTGATGTTGCCTCAAGATTAGATTCCACCTGTGTGTTTCTGGCAGCATTACCACAGAAGTGCTCTGTTCTCAGTGCAGCTTAGGCAGCACCTGATGGCAATTGGTTCCTTTCCTGGGGATATTAACTTTTAATTTTTTTTATTTTTACTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGAAACCCCCGCCTCCCGGGTTCAAGTGATTCTCCTACCTTAGCCTCCTGAGTAGCTGGGACTACAGGCGTGCACCACCATGCCCAGCTAATTTTTTTTTTTTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCATTCTCCTGACCTTGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACTGCGCCTGGCCTTAACTTTTTTTTTTTTTTTTTAGAGACGAGGTCTTGCTCTGTTGTCCAGGCTGGTCTCAAACTCCCAGGCTCAAGCAATCCTCCCTCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATCAGCCTCTGTGCCCGGCCTGATATTATCACTTGGTTAACATGGAGTCTGCAGGGTTTTTCCACCACAAAGTTAATTAATAAGCATTTTGTACTTACTGGAAAAAATATTTTACGAGGAGGTAAATATATTAAGGGGAGAAGAAGAAAGGCAACTATCTTTTTCCTTATCACATTTCACCCACTAGTTTTAGCATCTATTCATGATTCTTGCCTGAATTGGTCATCACTATACTTGGATGCTTACCAGACAGTGAATTTCTAATCCCACCATTCCTTACATATTTATTAATTGGCTTTATTTATTTATTTATTTTCGAGACAGAGTCTCACTTCATCACCCAGGCTGGAGTGCGCTGGCACAATCTCGGCTCACTGCAACCTCTACCTCCCGGGTTCCAGCAGTTCTCCTGCCTCAACCTCCAGAGTAGCTGGGATTACAGGGACCCGCCACCATGCCCGGCTAATTTTTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCTGGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCGCTGCTTTGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACTGCTCCCGGCCTCATTAATTGGCTTTCTGTAGTAAGATAGTGCTTTTCCTTTGCTCTCATTTATTTGTATCAGTTATGGACCGTGGGTTCCTGTTTTATTTGATGGGGCTGAA
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Task1_train_16105
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A sequence alteration has been identified in PACS1 (phosphofurin acidic cluster sorting protein 1) on Chromosome 11. Is it disease-inducing or harmless?
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Pathogenic; Neurodevelopmental disorder
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TTCAGCTGAGACCTGAAAGATGAGTTGGTTACTTGTGTTCAGAAGCCAAAAAAAGCATCCAAGAAGAGAAGAAAAGCACATGAAAAGGCCCAGAGACAAGACAGTATGCCTGGGGAGTCAGAGGGAGGATCACTTGAAGTCAGGAGTTCGAGGCCAGCCCGGCCAACATGGCAGTAAGAGGGCTGTCTAACCCAAATATTAGGTTTGGAGAGCAGGGAGGTTAAAGAGGAAGTTCCTGGGAAAAAAAAGGAACAGTGGGCAGGGAGGGTCTTACACACCCTGGGGACTGACACTACCGGCCTCTTCCCCAGGAGTGCTGGGAACTCACAGACGTTAACAAATCATTTTGCTGTGATAACCTTTTATGCACCCTACAGCATCATATATGTAAAATCAGACTTATGGTAGAGGCTTGATTCAAATAAGTACAATAAAGACTCATGAAATATTTGGACTGGTAAGAATGTTTGGGCCGGGCTCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAAGCAAGCTGATCATCTGAGGTCAGGAGTTCAAGGCCAGCACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCATTGTGGCAGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGGTAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGCGCCGAGATCACGCCACTGCAGTCCAGCCTGGGTGACAGAATGAGACTCGTCTCAAAAAAAATAAAATTTAATTTTTTTTTTTTAAAGAATGCTTGTAGAGTTTAGAAGTTGTTTGCAAACATAGTATTTCTTTTGGTCTGATTTTTGGTGACACAGCTTTGACAGATTTTTTTTTTCTTTTTATTATTGATATTATTTGAGACAGGGTCTCTCTCTGTCACCCAGGCTGGAGTGCAGTGGCAGGATCATGACTCACTGCAGGCTTGAACTCCTGGGCTCAAGTGATCCTCGCACCTCAGCCTCCTGAGTTGCTGGGACTACAGGCATGTGTACCACCACACCCAGCCAATTTTTTTTATTTTTTGTAGAAACAGGAGTCTCACTATGTTGCCCCAGGCTGGTCTCAAACTCCTGAGTCCAAGCAGTCCTTCTGCCTCAGCCTCCCAAACTGCTGGGATTACTGGCACAAGCCACTGCACCTGGCCAAACAGACTTTTCTTCTTGGTTTCAGGGTTCAAAAAGAATTCTTCGCTCCAACGAGATCGTCCTTCCAGCTAGTGGACTGGTGGAAACAGAGCTCCAATTAACCTTCTCCCTTCAGGTGAGACTCTCCTAATCTTAGGCCCCTAACATGCTATATCCTGGCTAGTCCCCAGACAGTCCTCTAACCCAGAGACTGTTTTATCCCAGAGCCCCCATTCCCCAACTTGGGCAGGAATGAATAAAAGTCACCTGGAGGTTTATGGCTGGCCTGGAGGGCCAAAGCAACCCTTTAGCCAGTGACGGTAAGGGTGTGGAGACCTGGGTAGGCACCGTGGCCCCTTCCCTTCCTCTGCCTTGGCTAACACTGTTAGCCATCTGCTGCACCACATCACATCTCCTTAGTGATCCTCGCACACCCCGTGGACTGTGCCACCATCAGCCTCCACGTCGGGATCTCCGTCCTTCCCCTCTACTCCGTATCCCTCCTAGTCGGTGTCCCTCTCATCGTAATTCCAGTAATTCAATGCCCAAATTGAAACACATGGAGAAAACACCTGATAAAGTGGCAAGGGAAGAGACAGTTCTCTGAATAGGTGTGGACCCCAGAGCTGTGGCGTAGAAGCCAGGCATCAAGCCGAATCAGCTCCACCAGCAGCAACTTCATGGCTCTCCTTTCAACCCTGACTGCCCCCTTTTAGAGACAGGAAGAATTGAAGCACAGAAAGACTGTGTGTCCTCCAGAACCCCTCAAGGACCCAGCTGCCCATTAACCACGCTCGACTCTGTTTTGTATTTCGTAGTACCCTCATTTCCTTAAGCGAGATGCCAACAAGCTGCAGATCATGCTGCAAAGGAGAAAACGTTACAAGAATCGGACCATCTTGGGCTATAAGACCTTGGCCGTGGGACTCATCAACATGGCAGAGGTGAGAGGAACACAGTCTCCAGACTGTTGGCCTTTGAGTCACAGAGCCCAAGGGACACCCCAGCCCAGCCAGTTGAGCCTTCCAGATGATTTTCCCAGCCTGCTGGCTAGGTGCTTAATTCTGTTTTACGAGTTAATTATTTGCTGGAAATTCAGAGTATACTTGTTTTTATCAAATACTGTCTCCTTCATGAAAAGTTTTAATTTTTAAACAGGTAAAACTCAAAAAATTACATAAAATTTCAAACTTTCAGAAAAGTTACAAGAATAGTACAAAGAGTTCCCATATGTGGATTCATCCAAGTTCTTTAACATATCACCACATTTCATATGCTCTCCTCATAGATATATTGATAGGTATTATTTTCTGAGCCATCCGAGAGTAAGTTGCTGGCACGATGCCCCATTACACGTTAATACTGCACCACGTTAATTTCCTTAACATGAGAATACTCTGCTGTCTAAACTCCCTGCCACCATCAAGATCAGGACACTAACGTTGAGATAAGATTGCCGTCTAACCCACAGTCCCTATTCGGATTGTGCTGAGTGTCTCAGTGATACCCTTTATGGGCCTGGGATCCGATCTAGGATTATGTGCCGCATATCACTGTGTCCTTCGTCCCCTTCGGTCTGCAGCAGCCCCTCGGTTTTCCTTACCTTTCATGACCTTGACATTTTTTAAGCGCACAGGCTGGTTACTTTTTTGAATACTCCTCAGTCCAGGTTCGCCTGATGTTGCCTCAAGATTAGATTCCACCTGTGTGTTTCTGGCAGCATTACCACAGAAGTGCTCTGTTCTCAGTGCAGCTTAGGCAGCACCTGATGGCAATTGGTTCCTTTCCTGGGGATATTAACTTTTAATTTTTTTTATTTTTACTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGAAACCCCCGCCTCCCGGGTTCAAGTGATTCTCCTACCTTAGCCTCCTGAGTAGCTGGGACTACAGGCGTGCACCACCATGCCCAGCTAATTTTTTTTTTTTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCATTCTCCTGACCTTGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACTGCGCCTGGCCTTAACTTTTTTTTTTTTTTTTTAGAGACGAGGTCTTGCTCTGTTGTCCAGGCTGGTCTCAAACTCCCAGGCTCAAGCAATCCTCCCTCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATCAGCCTCTGTGCCCGGCCTGATATTATCACTTGGTTAACATGGAGTCTGCAGGGTTTTTCCACCACAAAGTTAATTAATAAGCATTTTGTACTTACTGGAAAAAATATTTTACGAGGAGGTAAATATATTAAGGGGAGAAGAAGAAAGGCAACTATCTTTTTCCTTATCACATTTCACCCACTAGTTTTAGCATCTATTCATGATTCTTGCCTGAATTGGTCATCACTATACTTGGATGCTTACCAGACAGTGAATTTCTAATCCCACCATTCCTTACATATTTATTAATTGGCTTTATTTATTTATTTATTTTCGAGACAGAGTCTCACTTCATCACCCAGGCTGGAGTGCGCTGGCACAATCTCGGCTCACTGCAACCTCTACCTCCCGGGTTCCAGCAGTTCTCCTGCCTCAACCTCCAGAGTAGCTGGGATTACAGGGACCCGCCACCATGCCCGGCTAATTTTTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCTGGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCGCTGCTTTGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACTGCTCCCGGCCTCATTAATTGGCTTTCTGTAGTAAGATAGTGCTTTTCCTTTGCTCTCATTTATTTGTATCAGTTATGGACCGTGGGTTCCTGTTTTATTTGATGGGGCTGAA
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TTCAGCTGAGACCTGAAAGATGAGTTGGTTACTTGTGTTCAGAAGCCAAAAAAAGCATCCAAGAAGAGAAGAAAAGCACATGAAAAGGCCCAGAGACAAGACAGTATGCCTGGGGAGTCAGAGGGAGGATCACTTGAAGTCAGGAGTTCGAGGCCAGCCCGGCCAACATGGCAGTAAGAGGGCTGTCTAACCCAAATATTAGGTTTGGAGAGCAGGGAGGTTAAAGAGGAAGTTCCTGGGAAAAAAAAGGAACAGTGGGCAGGGAGGGTCTTACACACCCTGGGGACTGACACTACCGGCCTCTTCCCCAGGAGTGCTGGGAACTCACAGACGTTAACAAATCATTTTGCTGTGATAACCTTTTATGCACCCTACAGCATCATATATGTAAAATCAGACTTATGGTAGAGGCTTGATTCAAATAAGTACAATAAAGACTCATGAAATATTTGGACTGGTAAGAATGTTTGGGCCGGGCTCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAAGCAAGCTGATCATCTGAGGTCAGGAGTTCAAGGCCAGCACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCATTGTGGCAGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGGTAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGCGCCGAGATCACGCCACTGCAGTCCAGCCTGGGTGACAGAATGAGACTCGTCTCAAAAAAAATAAAATTTAATTTTTTTTTTTTAAAGAATGCTTGTAGAGTTTAGAAGTTGTTTGCAAACATAGTATTTCTTTTGGTCTGATTTTTGGTGACACAGCTTTGACAGATTTTTTTTTTCTTTTTATTATTGATATTATTTGAGACAGGGTCTCTCTCTGTCACCCAGGCTGGAGTGCAGTGGCAGGATCATGACTCACTGCAGGCTTGAACTCCTGGGCTCAAGTGATCCTCGCACCTCAGCCTCCTGAGTTGCTGGGACTACAGGCATGTGTACCACCACACCCAGCCAATTTTTTTTATTTTTTGTAGAAACAGGAGTCTCACTATGTTGCCCCAGGCTGGTCTCAAACTCCTGAGTCCAAGCAGTCCTTCTGCCTCAGCCTCCCAAACTGCTGGGATTACTGGCACAAGCCACTGCACCTGGCCAAACAGACTTTTCTTCTTGGTTTCAGGGTTCAAAAAGAATTCTTCGCTCCAACGAGATCGTCCTTCCAGCTAGTGGACTGGTGGAAACAGAGCTCCAATTAACCTTCTCCCTTCAGGTGAGACTCTCCTAATCTTAGGCCCCTAACATGCTATATCCTGGCTAGTCCCCAGACAGTCCTCTAACCCAGAGACTGTTTTATCCCAGAGCCCCCATTCCCCAACTTGGGCAGGAATGAATAAAAGTCACCTGGAGGTTTATGGCTGGCCTGGAGGGCCAAAGCAACCCTTTAGCCAGTGACGGTAAGGGTGTGGAGACCTGGGTAGGCACCGTGGCCCCTTCCCTTCCTCTGCCTTGGCTAACACTGTTAGCCATCTGCTGCACCACATCACATCTCCTTAGTGATCCTCGCACACCCCGTGGACTGTGCCACCATCAGCCTCCACGTCGGGATCTCCGTCCTTCCCCTCTACTCCGTATCCCTCCTAGTCGGTGTCCCTCTCATCGTAATTCCAGTAATTCAATGCCCAAATTGAAACACATGGAGAAAACACCTGATAAAGTGGCAAGGGAAGAGACAGTTCTCTGAATAGGTGTGGACCCCAGAGCTGTGGCGTAGAAGCCAGGCATCAAGCCGAATCAGCTCCACCAGCAGCAACTTCATGGCTCTCCTTTCAACCCTGACTGCCCCCTTTTAGAGACAGGAAGAATTGAAGCACAGAAAGACTGTGTGTCCTCCAGAACCCCTCAAGGACCCAGCTGCCCATTAACCACGCTCGACTCTGTTTTGTATTTCGTAGTACCCTCATTTCCTTAAGCGAGATGCCAACAAGCTGCAGATCATGCTGCAAAGGAGAAAACGTTACAAGAATTGGACCATCTTGGGCTATAAGACCTTGGCCGTGGGACTCATCAACATGGCAGAGGTGAGAGGAACACAGTCTCCAGACTGTTGGCCTTTGAGTCACAGAGCCCAAGGGACACCCCAGCCCAGCCAGTTGAGCCTTCCAGATGATTTTCCCAGCCTGCTGGCTAGGTGCTTAATTCTGTTTTACGAGTTAATTATTTGCTGGAAATTCAGAGTATACTTGTTTTTATCAAATACTGTCTCCTTCATGAAAAGTTTTAATTTTTAAACAGGTAAAACTCAAAAAATTACATAAAATTTCAAACTTTCAGAAAAGTTACAAGAATAGTACAAAGAGTTCCCATATGTGGATTCATCCAAGTTCTTTAACATATCACCACATTTCATATGCTCTCCTCATAGATATATTGATAGGTATTATTTTCTGAGCCATCCGAGAGTAAGTTGCTGGCACGATGCCCCATTACACGTTAATACTGCACCACGTTAATTTCCTTAACATGAGAATACTCTGCTGTCTAAACTCCCTGCCACCATCAAGATCAGGACACTAACGTTGAGATAAGATTGCCGTCTAACCCACAGTCCCTATTCGGATTGTGCTGAGTGTCTCAGTGATACCCTTTATGGGCCTGGGATCCGATCTAGGATTATGTGCCGCATATCACTGTGTCCTTCGTCCCCTTCGGTCTGCAGCAGCCCCTCGGTTTTCCTTACCTTTCATGACCTTGACATTTTTTAAGCGCACAGGCTGGTTACTTTTTTGAATACTCCTCAGTCCAGGTTCGCCTGATGTTGCCTCAAGATTAGATTCCACCTGTGTGTTTCTGGCAGCATTACCACAGAAGTGCTCTGTTCTCAGTGCAGCTTAGGCAGCACCTGATGGCAATTGGTTCCTTTCCTGGGGATATTAACTTTTAATTTTTTTTATTTTTACTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGAAACCCCCGCCTCCCGGGTTCAAGTGATTCTCCTACCTTAGCCTCCTGAGTAGCTGGGACTACAGGCGTGCACCACCATGCCCAGCTAATTTTTTTTTTTTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCATTCTCCTGACCTTGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACTGCGCCTGGCCTTAACTTTTTTTTTTTTTTTTTAGAGACGAGGTCTTGCTCTGTTGTCCAGGCTGGTCTCAAACTCCCAGGCTCAAGCAATCCTCCCTCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATCAGCCTCTGTGCCCGGCCTGATATTATCACTTGGTTAACATGGAGTCTGCAGGGTTTTTCCACCACAAAGTTAATTAATAAGCATTTTGTACTTACTGGAAAAAATATTTTACGAGGAGGTAAATATATTAAGGGGAGAAGAAGAAAGGCAACTATCTTTTTCCTTATCACATTTCACCCACTAGTTTTAGCATCTATTCATGATTCTTGCCTGAATTGGTCATCACTATACTTGGATGCTTACCAGACAGTGAATTTCTAATCCCACCATTCCTTACATATTTATTAATTGGCTTTATTTATTTATTTATTTTCGAGACAGAGTCTCACTTCATCACCCAGGCTGGAGTGCGCTGGCACAATCTCGGCTCACTGCAACCTCTACCTCCCGGGTTCCAGCAGTTCTCCTGCCTCAACCTCCAGAGTAGCTGGGATTACAGGGACCCGCCACCATGCCCGGCTAATTTTTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCTGGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCGCTGCTTTGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACTGCTCCCGGCCTCATTAATTGGCTTTCTGTAGTAAGATAGTGCTTTTCCTTTGCTCTCATTTATTTGTATCAGTTATGGACCGTGGGTTCCTGTTTTATTTGATGGGGCTGAA
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Task1_train_16106
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Given this variant in gene PACS1 (phosphofurin acidic cluster sorting protein 1) on Chromosome 11, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Inborn genetic diseases
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TTCAGCTGAGACCTGAAAGATGAGTTGGTTACTTGTGTTCAGAAGCCAAAAAAAGCATCCAAGAAGAGAAGAAAAGCACATGAAAAGGCCCAGAGACAAGACAGTATGCCTGGGGAGTCAGAGGGAGGATCACTTGAAGTCAGGAGTTCGAGGCCAGCCCGGCCAACATGGCAGTAAGAGGGCTGTCTAACCCAAATATTAGGTTTGGAGAGCAGGGAGGTTAAAGAGGAAGTTCCTGGGAAAAAAAAGGAACAGTGGGCAGGGAGGGTCTTACACACCCTGGGGACTGACACTACCGGCCTCTTCCCCAGGAGTGCTGGGAACTCACAGACGTTAACAAATCATTTTGCTGTGATAACCTTTTATGCACCCTACAGCATCATATATGTAAAATCAGACTTATGGTAGAGGCTTGATTCAAATAAGTACAATAAAGACTCATGAAATATTTGGACTGGTAAGAATGTTTGGGCCGGGCTCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAAGCAAGCTGATCATCTGAGGTCAGGAGTTCAAGGCCAGCACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCATTGTGGCAGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGGTAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGCGCCGAGATCACGCCACTGCAGTCCAGCCTGGGTGACAGAATGAGACTCGTCTCAAAAAAAATAAAATTTAATTTTTTTTTTTTAAAGAATGCTTGTAGAGTTTAGAAGTTGTTTGCAAACATAGTATTTCTTTTGGTCTGATTTTTGGTGACACAGCTTTGACAGATTTTTTTTTTCTTTTTATTATTGATATTATTTGAGACAGGGTCTCTCTCTGTCACCCAGGCTGGAGTGCAGTGGCAGGATCATGACTCACTGCAGGCTTGAACTCCTGGGCTCAAGTGATCCTCGCACCTCAGCCTCCTGAGTTGCTGGGACTACAGGCATGTGTACCACCACACCCAGCCAATTTTTTTTATTTTTTGTAGAAACAGGAGTCTCACTATGTTGCCCCAGGCTGGTCTCAAACTCCTGAGTCCAAGCAGTCCTTCTGCCTCAGCCTCCCAAACTGCTGGGATTACTGGCACAAGCCACTGCACCTGGCCAAACAGACTTTTCTTCTTGGTTTCAGGGTTCAAAAAGAATTCTTCGCTCCAACGAGATCGTCCTTCCAGCTAGTGGACTGGTGGAAACAGAGCTCCAATTAACCTTCTCCCTTCAGGTGAGACTCTCCTAATCTTAGGCCCCTAACATGCTATATCCTGGCTAGTCCCCAGACAGTCCTCTAACCCAGAGACTGTTTTATCCCAGAGCCCCCATTCCCCAACTTGGGCAGGAATGAATAAAAGTCACCTGGAGGTTTATGGCTGGCCTGGAGGGCCAAAGCAACCCTTTAGCCAGTGACGGTAAGGGTGTGGAGACCTGGGTAGGCACCGTGGCCCCTTCCCTTCCTCTGCCTTGGCTAACACTGTTAGCCATCTGCTGCACCACATCACATCTCCTTAGTGATCCTCGCACACCCCGTGGACTGTGCCACCATCAGCCTCCACGTCGGGATCTCCGTCCTTCCCCTCTACTCCGTATCCCTCCTAGTCGGTGTCCCTCTCATCGTAATTCCAGTAATTCAATGCCCAAATTGAAACACATGGAGAAAACACCTGATAAAGTGGCAAGGGAAGAGACAGTTCTCTGAATAGGTGTGGACCCCAGAGCTGTGGCGTAGAAGCCAGGCATCAAGCCGAATCAGCTCCACCAGCAGCAACTTCATGGCTCTCCTTTCAACCCTGACTGCCCCCTTTTAGAGACAGGAAGAATTGAAGCACAGAAAGACTGTGTGTCCTCCAGAACCCCTCAAGGACCCAGCTGCCCATTAACCACGCTCGACTCTGTTTTGTATTTCGTAGTACCCTCATTTCCTTAAGCGAGATGCCAACAAGCTGCAGATCATGCTGCAAAGGAGAAAACGTTACAAGAATCGGACCATCTTGGGCTATAAGACCTTGGCCGTGGGACTCATCAACATGGCAGAGGTGAGAGGAACACAGTCTCCAGACTGTTGGCCTTTGAGTCACAGAGCCCAAGGGACACCCCAGCCCAGCCAGTTGAGCCTTCCAGATGATTTTCCCAGCCTGCTGGCTAGGTGCTTAATTCTGTTTTACGAGTTAATTATTTGCTGGAAATTCAGAGTATACTTGTTTTTATCAAATACTGTCTCCTTCATGAAAAGTTTTAATTTTTAAACAGGTAAAACTCAAAAAATTACATAAAATTTCAAACTTTCAGAAAAGTTACAAGAATAGTACAAAGAGTTCCCATATGTGGATTCATCCAAGTTCTTTAACATATCACCACATTTCATATGCTCTCCTCATAGATATATTGATAGGTATTATTTTCTGAGCCATCCGAGAGTAAGTTGCTGGCACGATGCCCCATTACACGTTAATACTGCACCACGTTAATTTCCTTAACATGAGAATACTCTGCTGTCTAAACTCCCTGCCACCATCAAGATCAGGACACTAACGTTGAGATAAGATTGCCGTCTAACCCACAGTCCCTATTCGGATTGTGCTGAGTGTCTCAGTGATACCCTTTATGGGCCTGGGATCCGATCTAGGATTATGTGCCGCATATCACTGTGTCCTTCGTCCCCTTCGGTCTGCAGCAGCCCCTCGGTTTTCCTTACCTTTCATGACCTTGACATTTTTTAAGCGCACAGGCTGGTTACTTTTTTGAATACTCCTCAGTCCAGGTTCGCCTGATGTTGCCTCAAGATTAGATTCCACCTGTGTGTTTCTGGCAGCATTACCACAGAAGTGCTCTGTTCTCAGTGCAGCTTAGGCAGCACCTGATGGCAATTGGTTCCTTTCCTGGGGATATTAACTTTTAATTTTTTTTATTTTTACTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGAAACCCCCGCCTCCCGGGTTCAAGTGATTCTCCTACCTTAGCCTCCTGAGTAGCTGGGACTACAGGCGTGCACCACCATGCCCAGCTAATTTTTTTTTTTTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCATTCTCCTGACCTTGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACTGCGCCTGGCCTTAACTTTTTTTTTTTTTTTTTAGAGACGAGGTCTTGCTCTGTTGTCCAGGCTGGTCTCAAACTCCCAGGCTCAAGCAATCCTCCCTCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATCAGCCTCTGTGCCCGGCCTGATATTATCACTTGGTTAACATGGAGTCTGCAGGGTTTTTCCACCACAAAGTTAATTAATAAGCATTTTGTACTTACTGGAAAAAATATTTTACGAGGAGGTAAATATATTAAGGGGAGAAGAAGAAAGGCAACTATCTTTTTCCTTATCACATTTCACCCACTAGTTTTAGCATCTATTCATGATTCTTGCCTGAATTGGTCATCACTATACTTGGATGCTTACCAGACAGTGAATTTCTAATCCCACCATTCCTTACATATTTATTAATTGGCTTTATTTATTTATTTATTTTCGAGACAGAGTCTCACTTCATCACCCAGGCTGGAGTGCGCTGGCACAATCTCGGCTCACTGCAACCTCTACCTCCCGGGTTCCAGCAGTTCTCCTGCCTCAACCTCCAGAGTAGCTGGGATTACAGGGACCCGCCACCATGCCCGGCTAATTTTTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCTGGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCGCTGCTTTGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACTGCTCCCGGCCTCATTAATTGGCTTTCTGTAGTAAGATAGTGCTTTTCCTTTGCTCTCATTTATTTGTATCAGTTATGGACCGTGGGTTCCTGTTTTATTTGATGGGGCTGAA
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TTCAGCTGAGACCTGAAAGATGAGTTGGTTACTTGTGTTCAGAAGCCAAAAAAAGCATCCAAGAAGAGAAGAAAAGCACATGAAAAGGCCCAGAGACAAGACAGTATGCCTGGGGAGTCAGAGGGAGGATCACTTGAAGTCAGGAGTTCGAGGCCAGCCCGGCCAACATGGCAGTAAGAGGGCTGTCTAACCCAAATATTAGGTTTGGAGAGCAGGGAGGTTAAAGAGGAAGTTCCTGGGAAAAAAAAGGAACAGTGGGCAGGGAGGGTCTTACACACCCTGGGGACTGACACTACCGGCCTCTTCCCCAGGAGTGCTGGGAACTCACAGACGTTAACAAATCATTTTGCTGTGATAACCTTTTATGCACCCTACAGCATCATATATGTAAAATCAGACTTATGGTAGAGGCTTGATTCAAATAAGTACAATAAAGACTCATGAAATATTTGGACTGGTAAGAATGTTTGGGCCGGGCTCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAAGCAAGCTGATCATCTGAGGTCAGGAGTTCAAGGCCAGCACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCATTGTGGCAGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGGTAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGCGCCGAGATCACGCCACTGCAGTCCAGCCTGGGTGACAGAATGAGACTCGTCTCAAAAAAAATAAAATTTAATTTTTTTTTTTTAAAGAATGCTTGTAGAGTTTAGAAGTTGTTTGCAAACATAGTATTTCTTTTGGTCTGATTTTTGGTGACACAGCTTTGACAGATTTTTTTTTTCTTTTTATTATTGATATTATTTGAGACAGGGTCTCTCTCTGTCACCCAGGCTGGAGTGCAGTGGCAGGATCATGACTCACTGCAGGCTTGAACTCCTGGGCTCAAGTGATCCTCGCACCTCAGCCTCCTGAGTTGCTGGGACTACAGGCATGTGTACCACCACACCCAGCCAATTTTTTTTATTTTTTGTAGAAACAGGAGTCTCACTATGTTGCCCCAGGCTGGTCTCAAACTCCTGAGTCCAAGCAGTCCTTCTGCCTCAGCCTCCCAAACTGCTGGGATTACTGGCACAAGCCACTGCACCTGGCCAAACAGACTTTTCTTCTTGGTTTCAGGGTTCAAAAAGAATTCTTCGCTCCAACGAGATCGTCCTTCCAGCTAGTGGACTGGTGGAAACAGAGCTCCAATTAACCTTCTCCCTTCAGGTGAGACTCTCCTAATCTTAGGCCCCTAACATGCTATATCCTGGCTAGTCCCCAGACAGTCCTCTAACCCAGAGACTGTTTTATCCCAGAGCCCCCATTCCCCAACTTGGGCAGGAATGAATAAAAGTCACCTGGAGGTTTATGGCTGGCCTGGAGGGCCAAAGCAACCCTTTAGCCAGTGACGGTAAGGGTGTGGAGACCTGGGTAGGCACCGTGGCCCCTTCCCTTCCTCTGCCTTGGCTAACACTGTTAGCCATCTGCTGCACCACATCACATCTCCTTAGTGATCCTCGCACACCCCGTGGACTGTGCCACCATCAGCCTCCACGTCGGGATCTCCGTCCTTCCCCTCTACTCCGTATCCCTCCTAGTCGGTGTCCCTCTCATCGTAATTCCAGTAATTCAATGCCCAAATTGAAACACATGGAGAAAACACCTGATAAAGTGGCAAGGGAAGAGACAGTTCTCTGAATAGGTGTGGACCCCAGAGCTGTGGCGTAGAAGCCAGGCATCAAGCCGAATCAGCTCCACCAGCAGCAACTTCATGGCTCTCCTTTCAACCCTGACTGCCCCCTTTTAGAGACAGGAAGAATTGAAGCACAGAAAGACTGTGTGTCCTCCAGAACCCCTCAAGGACCCAGCTGCCCATTAACCACGCTCGACTCTGTTTTGTATTTCGTAGTACCCTCATTTCCTTAAGCGAGATGCCAACAAGCTGCAGATCATGCTGCAAAGGAGAAAACGTTACAAGAATTGGACCATCTTGGGCTATAAGACCTTGGCCGTGGGACTCATCAACATGGCAGAGGTGAGAGGAACACAGTCTCCAGACTGTTGGCCTTTGAGTCACAGAGCCCAAGGGACACCCCAGCCCAGCCAGTTGAGCCTTCCAGATGATTTTCCCAGCCTGCTGGCTAGGTGCTTAATTCTGTTTTACGAGTTAATTATTTGCTGGAAATTCAGAGTATACTTGTTTTTATCAAATACTGTCTCCTTCATGAAAAGTTTTAATTTTTAAACAGGTAAAACTCAAAAAATTACATAAAATTTCAAACTTTCAGAAAAGTTACAAGAATAGTACAAAGAGTTCCCATATGTGGATTCATCCAAGTTCTTTAACATATCACCACATTTCATATGCTCTCCTCATAGATATATTGATAGGTATTATTTTCTGAGCCATCCGAGAGTAAGTTGCTGGCACGATGCCCCATTACACGTTAATACTGCACCACGTTAATTTCCTTAACATGAGAATACTCTGCTGTCTAAACTCCCTGCCACCATCAAGATCAGGACACTAACGTTGAGATAAGATTGCCGTCTAACCCACAGTCCCTATTCGGATTGTGCTGAGTGTCTCAGTGATACCCTTTATGGGCCTGGGATCCGATCTAGGATTATGTGCCGCATATCACTGTGTCCTTCGTCCCCTTCGGTCTGCAGCAGCCCCTCGGTTTTCCTTACCTTTCATGACCTTGACATTTTTTAAGCGCACAGGCTGGTTACTTTTTTGAATACTCCTCAGTCCAGGTTCGCCTGATGTTGCCTCAAGATTAGATTCCACCTGTGTGTTTCTGGCAGCATTACCACAGAAGTGCTCTGTTCTCAGTGCAGCTTAGGCAGCACCTGATGGCAATTGGTTCCTTTCCTGGGGATATTAACTTTTAATTTTTTTTATTTTTACTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGAAACCCCCGCCTCCCGGGTTCAAGTGATTCTCCTACCTTAGCCTCCTGAGTAGCTGGGACTACAGGCGTGCACCACCATGCCCAGCTAATTTTTTTTTTTTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCATTCTCCTGACCTTGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACTGCGCCTGGCCTTAACTTTTTTTTTTTTTTTTTAGAGACGAGGTCTTGCTCTGTTGTCCAGGCTGGTCTCAAACTCCCAGGCTCAAGCAATCCTCCCTCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATCAGCCTCTGTGCCCGGCCTGATATTATCACTTGGTTAACATGGAGTCTGCAGGGTTTTTCCACCACAAAGTTAATTAATAAGCATTTTGTACTTACTGGAAAAAATATTTTACGAGGAGGTAAATATATTAAGGGGAGAAGAAGAAAGGCAACTATCTTTTTCCTTATCACATTTCACCCACTAGTTTTAGCATCTATTCATGATTCTTGCCTGAATTGGTCATCACTATACTTGGATGCTTACCAGACAGTGAATTTCTAATCCCACCATTCCTTACATATTTATTAATTGGCTTTATTTATTTATTTATTTTCGAGACAGAGTCTCACTTCATCACCCAGGCTGGAGTGCGCTGGCACAATCTCGGCTCACTGCAACCTCTACCTCCCGGGTTCCAGCAGTTCTCCTGCCTCAACCTCCAGAGTAGCTGGGATTACAGGGACCCGCCACCATGCCCGGCTAATTTTTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCTGGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCGCTGCTTTGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACTGCTCCCGGCCTCATTAATTGGCTTTCTGTAGTAAGATAGTGCTTTTCCTTTGCTCTCATTTATTTGTATCAGTTATGGACCGTGGGTTCCTGTTTTATTTGATGGGGCTGAA
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Task1_train_16107
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Consider a variant on Chromosome 11 in gene PACS1 (phosphofurin acidic cluster sorting protein 1). Determine its clinical classification and disease relevance.
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Pathogenic; PACS1-related syndrome
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TTCAGCTGAGACCTGAAAGATGAGTTGGTTACTTGTGTTCAGAAGCCAAAAAAAGCATCCAAGAAGAGAAGAAAAGCACATGAAAAGGCCCAGAGACAAGACAGTATGCCTGGGGAGTCAGAGGGAGGATCACTTGAAGTCAGGAGTTCGAGGCCAGCCCGGCCAACATGGCAGTAAGAGGGCTGTCTAACCCAAATATTAGGTTTGGAGAGCAGGGAGGTTAAAGAGGAAGTTCCTGGGAAAAAAAAGGAACAGTGGGCAGGGAGGGTCTTACACACCCTGGGGACTGACACTACCGGCCTCTTCCCCAGGAGTGCTGGGAACTCACAGACGTTAACAAATCATTTTGCTGTGATAACCTTTTATGCACCCTACAGCATCATATATGTAAAATCAGACTTATGGTAGAGGCTTGATTCAAATAAGTACAATAAAGACTCATGAAATATTTGGACTGGTAAGAATGTTTGGGCCGGGCTCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAAGCAAGCTGATCATCTGAGGTCAGGAGTTCAAGGCCAGCACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCATTGTGGCAGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGGTAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGCGCCGAGATCACGCCACTGCAGTCCAGCCTGGGTGACAGAATGAGACTCGTCTCAAAAAAAATAAAATTTAATTTTTTTTTTTTAAAGAATGCTTGTAGAGTTTAGAAGTTGTTTGCAAACATAGTATTTCTTTTGGTCTGATTTTTGGTGACACAGCTTTGACAGATTTTTTTTTTCTTTTTATTATTGATATTATTTGAGACAGGGTCTCTCTCTGTCACCCAGGCTGGAGTGCAGTGGCAGGATCATGACTCACTGCAGGCTTGAACTCCTGGGCTCAAGTGATCCTCGCACCTCAGCCTCCTGAGTTGCTGGGACTACAGGCATGTGTACCACCACACCCAGCCAATTTTTTTTATTTTTTGTAGAAACAGGAGTCTCACTATGTTGCCCCAGGCTGGTCTCAAACTCCTGAGTCCAAGCAGTCCTTCTGCCTCAGCCTCCCAAACTGCTGGGATTACTGGCACAAGCCACTGCACCTGGCCAAACAGACTTTTCTTCTTGGTTTCAGGGTTCAAAAAGAATTCTTCGCTCCAACGAGATCGTCCTTCCAGCTAGTGGACTGGTGGAAACAGAGCTCCAATTAACCTTCTCCCTTCAGGTGAGACTCTCCTAATCTTAGGCCCCTAACATGCTATATCCTGGCTAGTCCCCAGACAGTCCTCTAACCCAGAGACTGTTTTATCCCAGAGCCCCCATTCCCCAACTTGGGCAGGAATGAATAAAAGTCACCTGGAGGTTTATGGCTGGCCTGGAGGGCCAAAGCAACCCTTTAGCCAGTGACGGTAAGGGTGTGGAGACCTGGGTAGGCACCGTGGCCCCTTCCCTTCCTCTGCCTTGGCTAACACTGTTAGCCATCTGCTGCACCACATCACATCTCCTTAGTGATCCTCGCACACCCCGTGGACTGTGCCACCATCAGCCTCCACGTCGGGATCTCCGTCCTTCCCCTCTACTCCGTATCCCTCCTAGTCGGTGTCCCTCTCATCGTAATTCCAGTAATTCAATGCCCAAATTGAAACACATGGAGAAAACACCTGATAAAGTGGCAAGGGAAGAGACAGTTCTCTGAATAGGTGTGGACCCCAGAGCTGTGGCGTAGAAGCCAGGCATCAAGCCGAATCAGCTCCACCAGCAGCAACTTCATGGCTCTCCTTTCAACCCTGACTGCCCCCTTTTAGAGACAGGAAGAATTGAAGCACAGAAAGACTGTGTGTCCTCCAGAACCCCTCAAGGACCCAGCTGCCCATTAACCACGCTCGACTCTGTTTTGTATTTCGTAGTACCCTCATTTCCTTAAGCGAGATGCCAACAAGCTGCAGATCATGCTGCAAAGGAGAAAACGTTACAAGAATCGGACCATCTTGGGCTATAAGACCTTGGCCGTGGGACTCATCAACATGGCAGAGGTGAGAGGAACACAGTCTCCAGACTGTTGGCCTTTGAGTCACAGAGCCCAAGGGACACCCCAGCCCAGCCAGTTGAGCCTTCCAGATGATTTTCCCAGCCTGCTGGCTAGGTGCTTAATTCTGTTTTACGAGTTAATTATTTGCTGGAAATTCAGAGTATACTTGTTTTTATCAAATACTGTCTCCTTCATGAAAAGTTTTAATTTTTAAACAGGTAAAACTCAAAAAATTACATAAAATTTCAAACTTTCAGAAAAGTTACAAGAATAGTACAAAGAGTTCCCATATGTGGATTCATCCAAGTTCTTTAACATATCACCACATTTCATATGCTCTCCTCATAGATATATTGATAGGTATTATTTTCTGAGCCATCCGAGAGTAAGTTGCTGGCACGATGCCCCATTACACGTTAATACTGCACCACGTTAATTTCCTTAACATGAGAATACTCTGCTGTCTAAACTCCCTGCCACCATCAAGATCAGGACACTAACGTTGAGATAAGATTGCCGTCTAACCCACAGTCCCTATTCGGATTGTGCTGAGTGTCTCAGTGATACCCTTTATGGGCCTGGGATCCGATCTAGGATTATGTGCCGCATATCACTGTGTCCTTCGTCCCCTTCGGTCTGCAGCAGCCCCTCGGTTTTCCTTACCTTTCATGACCTTGACATTTTTTAAGCGCACAGGCTGGTTACTTTTTTGAATACTCCTCAGTCCAGGTTCGCCTGATGTTGCCTCAAGATTAGATTCCACCTGTGTGTTTCTGGCAGCATTACCACAGAAGTGCTCTGTTCTCAGTGCAGCTTAGGCAGCACCTGATGGCAATTGGTTCCTTTCCTGGGGATATTAACTTTTAATTTTTTTTATTTTTACTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGAAACCCCCGCCTCCCGGGTTCAAGTGATTCTCCTACCTTAGCCTCCTGAGTAGCTGGGACTACAGGCGTGCACCACCATGCCCAGCTAATTTTTTTTTTTTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCATTCTCCTGACCTTGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACTGCGCCTGGCCTTAACTTTTTTTTTTTTTTTTTAGAGACGAGGTCTTGCTCTGTTGTCCAGGCTGGTCTCAAACTCCCAGGCTCAAGCAATCCTCCCTCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATCAGCCTCTGTGCCCGGCCTGATATTATCACTTGGTTAACATGGAGTCTGCAGGGTTTTTCCACCACAAAGTTAATTAATAAGCATTTTGTACTTACTGGAAAAAATATTTTACGAGGAGGTAAATATATTAAGGGGAGAAGAAGAAAGGCAACTATCTTTTTCCTTATCACATTTCACCCACTAGTTTTAGCATCTATTCATGATTCTTGCCTGAATTGGTCATCACTATACTTGGATGCTTACCAGACAGTGAATTTCTAATCCCACCATTCCTTACATATTTATTAATTGGCTTTATTTATTTATTTATTTTCGAGACAGAGTCTCACTTCATCACCCAGGCTGGAGTGCGCTGGCACAATCTCGGCTCACTGCAACCTCTACCTCCCGGGTTCCAGCAGTTCTCCTGCCTCAACCTCCAGAGTAGCTGGGATTACAGGGACCCGCCACCATGCCCGGCTAATTTTTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCTGGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCGCTGCTTTGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACTGCTCCCGGCCTCATTAATTGGCTTTCTGTAGTAAGATAGTGCTTTTCCTTTGCTCTCATTTATTTGTATCAGTTATGGACCGTGGGTTCCTGTTTTATTTGATGGGGCTGAA
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TTCAGCTGAGACCTGAAAGATGAGTTGGTTACTTGTGTTCAGAAGCCAAAAAAAGCATCCAAGAAGAGAAGAAAAGCACATGAAAAGGCCCAGAGACAAGACAGTATGCCTGGGGAGTCAGAGGGAGGATCACTTGAAGTCAGGAGTTCGAGGCCAGCCCGGCCAACATGGCAGTAAGAGGGCTGTCTAACCCAAATATTAGGTTTGGAGAGCAGGGAGGTTAAAGAGGAAGTTCCTGGGAAAAAAAAGGAACAGTGGGCAGGGAGGGTCTTACACACCCTGGGGACTGACACTACCGGCCTCTTCCCCAGGAGTGCTGGGAACTCACAGACGTTAACAAATCATTTTGCTGTGATAACCTTTTATGCACCCTACAGCATCATATATGTAAAATCAGACTTATGGTAGAGGCTTGATTCAAATAAGTACAATAAAGACTCATGAAATATTTGGACTGGTAAGAATGTTTGGGCCGGGCTCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAAGCAAGCTGATCATCTGAGGTCAGGAGTTCAAGGCCAGCACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCATTGTGGCAGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGGTAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGCGCCGAGATCACGCCACTGCAGTCCAGCCTGGGTGACAGAATGAGACTCGTCTCAAAAAAAATAAAATTTAATTTTTTTTTTTTAAAGAATGCTTGTAGAGTTTAGAAGTTGTTTGCAAACATAGTATTTCTTTTGGTCTGATTTTTGGTGACACAGCTTTGACAGATTTTTTTTTTCTTTTTATTATTGATATTATTTGAGACAGGGTCTCTCTCTGTCACCCAGGCTGGAGTGCAGTGGCAGGATCATGACTCACTGCAGGCTTGAACTCCTGGGCTCAAGTGATCCTCGCACCTCAGCCTCCTGAGTTGCTGGGACTACAGGCATGTGTACCACCACACCCAGCCAATTTTTTTTATTTTTTGTAGAAACAGGAGTCTCACTATGTTGCCCCAGGCTGGTCTCAAACTCCTGAGTCCAAGCAGTCCTTCTGCCTCAGCCTCCCAAACTGCTGGGATTACTGGCACAAGCCACTGCACCTGGCCAAACAGACTTTTCTTCTTGGTTTCAGGGTTCAAAAAGAATTCTTCGCTCCAACGAGATCGTCCTTCCAGCTAGTGGACTGGTGGAAACAGAGCTCCAATTAACCTTCTCCCTTCAGGTGAGACTCTCCTAATCTTAGGCCCCTAACATGCTATATCCTGGCTAGTCCCCAGACAGTCCTCTAACCCAGAGACTGTTTTATCCCAGAGCCCCCATTCCCCAACTTGGGCAGGAATGAATAAAAGTCACCTGGAGGTTTATGGCTGGCCTGGAGGGCCAAAGCAACCCTTTAGCCAGTGACGGTAAGGGTGTGGAGACCTGGGTAGGCACCGTGGCCCCTTCCCTTCCTCTGCCTTGGCTAACACTGTTAGCCATCTGCTGCACCACATCACATCTCCTTAGTGATCCTCGCACACCCCGTGGACTGTGCCACCATCAGCCTCCACGTCGGGATCTCCGTCCTTCCCCTCTACTCCGTATCCCTCCTAGTCGGTGTCCCTCTCATCGTAATTCCAGTAATTCAATGCCCAAATTGAAACACATGGAGAAAACACCTGATAAAGTGGCAAGGGAAGAGACAGTTCTCTGAATAGGTGTGGACCCCAGAGCTGTGGCGTAGAAGCCAGGCATCAAGCCGAATCAGCTCCACCAGCAGCAACTTCATGGCTCTCCTTTCAACCCTGACTGCCCCCTTTTAGAGACAGGAAGAATTGAAGCACAGAAAGACTGTGTGTCCTCCAGAACCCCTCAAGGACCCAGCTGCCCATTAACCACGCTCGACTCTGTTTTGTATTTCGTAGTACCCTCATTTCCTTAAGCGAGATGCCAACAAGCTGCAGATCATGCTGCAAAGGAGAAAACGTTACAAGAATTGGACCATCTTGGGCTATAAGACCTTGGCCGTGGGACTCATCAACATGGCAGAGGTGAGAGGAACACAGTCTCCAGACTGTTGGCCTTTGAGTCACAGAGCCCAAGGGACACCCCAGCCCAGCCAGTTGAGCCTTCCAGATGATTTTCCCAGCCTGCTGGCTAGGTGCTTAATTCTGTTTTACGAGTTAATTATTTGCTGGAAATTCAGAGTATACTTGTTTTTATCAAATACTGTCTCCTTCATGAAAAGTTTTAATTTTTAAACAGGTAAAACTCAAAAAATTACATAAAATTTCAAACTTTCAGAAAAGTTACAAGAATAGTACAAAGAGTTCCCATATGTGGATTCATCCAAGTTCTTTAACATATCACCACATTTCATATGCTCTCCTCATAGATATATTGATAGGTATTATTTTCTGAGCCATCCGAGAGTAAGTTGCTGGCACGATGCCCCATTACACGTTAATACTGCACCACGTTAATTTCCTTAACATGAGAATACTCTGCTGTCTAAACTCCCTGCCACCATCAAGATCAGGACACTAACGTTGAGATAAGATTGCCGTCTAACCCACAGTCCCTATTCGGATTGTGCTGAGTGTCTCAGTGATACCCTTTATGGGCCTGGGATCCGATCTAGGATTATGTGCCGCATATCACTGTGTCCTTCGTCCCCTTCGGTCTGCAGCAGCCCCTCGGTTTTCCTTACCTTTCATGACCTTGACATTTTTTAAGCGCACAGGCTGGTTACTTTTTTGAATACTCCTCAGTCCAGGTTCGCCTGATGTTGCCTCAAGATTAGATTCCACCTGTGTGTTTCTGGCAGCATTACCACAGAAGTGCTCTGTTCTCAGTGCAGCTTAGGCAGCACCTGATGGCAATTGGTTCCTTTCCTGGGGATATTAACTTTTAATTTTTTTTATTTTTACTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGAAACCCCCGCCTCCCGGGTTCAAGTGATTCTCCTACCTTAGCCTCCTGAGTAGCTGGGACTACAGGCGTGCACCACCATGCCCAGCTAATTTTTTTTTTTTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCATTCTCCTGACCTTGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACTGCGCCTGGCCTTAACTTTTTTTTTTTTTTTTTAGAGACGAGGTCTTGCTCTGTTGTCCAGGCTGGTCTCAAACTCCCAGGCTCAAGCAATCCTCCCTCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATCAGCCTCTGTGCCCGGCCTGATATTATCACTTGGTTAACATGGAGTCTGCAGGGTTTTTCCACCACAAAGTTAATTAATAAGCATTTTGTACTTACTGGAAAAAATATTTTACGAGGAGGTAAATATATTAAGGGGAGAAGAAGAAAGGCAACTATCTTTTTCCTTATCACATTTCACCCACTAGTTTTAGCATCTATTCATGATTCTTGCCTGAATTGGTCATCACTATACTTGGATGCTTACCAGACAGTGAATTTCTAATCCCACCATTCCTTACATATTTATTAATTGGCTTTATTTATTTATTTATTTTCGAGACAGAGTCTCACTTCATCACCCAGGCTGGAGTGCGCTGGCACAATCTCGGCTCACTGCAACCTCTACCTCCCGGGTTCCAGCAGTTCTCCTGCCTCAACCTCCAGAGTAGCTGGGATTACAGGGACCCGCCACCATGCCCGGCTAATTTTTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCTGGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCGCTGCTTTGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACTGCTCCCGGCCTCATTAATTGGCTTTCTGTAGTAAGATAGTGCTTTTCCTTTGCTCTCATTTATTTGTATCAGTTATGGACCGTGGGTTCCTGTTTTATTTGATGGGGCTGAA
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Task1_train_16108
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Given a variant located on Chromosome 11 and affecting PACS1 (phosphofurin acidic cluster sorting protein 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Global developmental delay
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TTCAGCTGAGACCTGAAAGATGAGTTGGTTACTTGTGTTCAGAAGCCAAAAAAAGCATCCAAGAAGAGAAGAAAAGCACATGAAAAGGCCCAGAGACAAGACAGTATGCCTGGGGAGTCAGAGGGAGGATCACTTGAAGTCAGGAGTTCGAGGCCAGCCCGGCCAACATGGCAGTAAGAGGGCTGTCTAACCCAAATATTAGGTTTGGAGAGCAGGGAGGTTAAAGAGGAAGTTCCTGGGAAAAAAAAGGAACAGTGGGCAGGGAGGGTCTTACACACCCTGGGGACTGACACTACCGGCCTCTTCCCCAGGAGTGCTGGGAACTCACAGACGTTAACAAATCATTTTGCTGTGATAACCTTTTATGCACCCTACAGCATCATATATGTAAAATCAGACTTATGGTAGAGGCTTGATTCAAATAAGTACAATAAAGACTCATGAAATATTTGGACTGGTAAGAATGTTTGGGCCGGGCTCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAAGCAAGCTGATCATCTGAGGTCAGGAGTTCAAGGCCAGCACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCATTGTGGCAGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGGTAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGCGCCGAGATCACGCCACTGCAGTCCAGCCTGGGTGACAGAATGAGACTCGTCTCAAAAAAAATAAAATTTAATTTTTTTTTTTTAAAGAATGCTTGTAGAGTTTAGAAGTTGTTTGCAAACATAGTATTTCTTTTGGTCTGATTTTTGGTGACACAGCTTTGACAGATTTTTTTTTTCTTTTTATTATTGATATTATTTGAGACAGGGTCTCTCTCTGTCACCCAGGCTGGAGTGCAGTGGCAGGATCATGACTCACTGCAGGCTTGAACTCCTGGGCTCAAGTGATCCTCGCACCTCAGCCTCCTGAGTTGCTGGGACTACAGGCATGTGTACCACCACACCCAGCCAATTTTTTTTATTTTTTGTAGAAACAGGAGTCTCACTATGTTGCCCCAGGCTGGTCTCAAACTCCTGAGTCCAAGCAGTCCTTCTGCCTCAGCCTCCCAAACTGCTGGGATTACTGGCACAAGCCACTGCACCTGGCCAAACAGACTTTTCTTCTTGGTTTCAGGGTTCAAAAAGAATTCTTCGCTCCAACGAGATCGTCCTTCCAGCTAGTGGACTGGTGGAAACAGAGCTCCAATTAACCTTCTCCCTTCAGGTGAGACTCTCCTAATCTTAGGCCCCTAACATGCTATATCCTGGCTAGTCCCCAGACAGTCCTCTAACCCAGAGACTGTTTTATCCCAGAGCCCCCATTCCCCAACTTGGGCAGGAATGAATAAAAGTCACCTGGAGGTTTATGGCTGGCCTGGAGGGCCAAAGCAACCCTTTAGCCAGTGACGGTAAGGGTGTGGAGACCTGGGTAGGCACCGTGGCCCCTTCCCTTCCTCTGCCTTGGCTAACACTGTTAGCCATCTGCTGCACCACATCACATCTCCTTAGTGATCCTCGCACACCCCGTGGACTGTGCCACCATCAGCCTCCACGTCGGGATCTCCGTCCTTCCCCTCTACTCCGTATCCCTCCTAGTCGGTGTCCCTCTCATCGTAATTCCAGTAATTCAATGCCCAAATTGAAACACATGGAGAAAACACCTGATAAAGTGGCAAGGGAAGAGACAGTTCTCTGAATAGGTGTGGACCCCAGAGCTGTGGCGTAGAAGCCAGGCATCAAGCCGAATCAGCTCCACCAGCAGCAACTTCATGGCTCTCCTTTCAACCCTGACTGCCCCCTTTTAGAGACAGGAAGAATTGAAGCACAGAAAGACTGTGTGTCCTCCAGAACCCCTCAAGGACCCAGCTGCCCATTAACCACGCTCGACTCTGTTTTGTATTTCGTAGTACCCTCATTTCCTTAAGCGAGATGCCAACAAGCTGCAGATCATGCTGCAAAGGAGAAAACGTTACAAGAATCGGACCATCTTGGGCTATAAGACCTTGGCCGTGGGACTCATCAACATGGCAGAGGTGAGAGGAACACAGTCTCCAGACTGTTGGCCTTTGAGTCACAGAGCCCAAGGGACACCCCAGCCCAGCCAGTTGAGCCTTCCAGATGATTTTCCCAGCCTGCTGGCTAGGTGCTTAATTCTGTTTTACGAGTTAATTATTTGCTGGAAATTCAGAGTATACTTGTTTTTATCAAATACTGTCTCCTTCATGAAAAGTTTTAATTTTTAAACAGGTAAAACTCAAAAAATTACATAAAATTTCAAACTTTCAGAAAAGTTACAAGAATAGTACAAAGAGTTCCCATATGTGGATTCATCCAAGTTCTTTAACATATCACCACATTTCATATGCTCTCCTCATAGATATATTGATAGGTATTATTTTCTGAGCCATCCGAGAGTAAGTTGCTGGCACGATGCCCCATTACACGTTAATACTGCACCACGTTAATTTCCTTAACATGAGAATACTCTGCTGTCTAAACTCCCTGCCACCATCAAGATCAGGACACTAACGTTGAGATAAGATTGCCGTCTAACCCACAGTCCCTATTCGGATTGTGCTGAGTGTCTCAGTGATACCCTTTATGGGCCTGGGATCCGATCTAGGATTATGTGCCGCATATCACTGTGTCCTTCGTCCCCTTCGGTCTGCAGCAGCCCCTCGGTTTTCCTTACCTTTCATGACCTTGACATTTTTTAAGCGCACAGGCTGGTTACTTTTTTGAATACTCCTCAGTCCAGGTTCGCCTGATGTTGCCTCAAGATTAGATTCCACCTGTGTGTTTCTGGCAGCATTACCACAGAAGTGCTCTGTTCTCAGTGCAGCTTAGGCAGCACCTGATGGCAATTGGTTCCTTTCCTGGGGATATTAACTTTTAATTTTTTTTATTTTTACTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGAAACCCCCGCCTCCCGGGTTCAAGTGATTCTCCTACCTTAGCCTCCTGAGTAGCTGGGACTACAGGCGTGCACCACCATGCCCAGCTAATTTTTTTTTTTTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCATTCTCCTGACCTTGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACTGCGCCTGGCCTTAACTTTTTTTTTTTTTTTTTAGAGACGAGGTCTTGCTCTGTTGTCCAGGCTGGTCTCAAACTCCCAGGCTCAAGCAATCCTCCCTCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATCAGCCTCTGTGCCCGGCCTGATATTATCACTTGGTTAACATGGAGTCTGCAGGGTTTTTCCACCACAAAGTTAATTAATAAGCATTTTGTACTTACTGGAAAAAATATTTTACGAGGAGGTAAATATATTAAGGGGAGAAGAAGAAAGGCAACTATCTTTTTCCTTATCACATTTCACCCACTAGTTTTAGCATCTATTCATGATTCTTGCCTGAATTGGTCATCACTATACTTGGATGCTTACCAGACAGTGAATTTCTAATCCCACCATTCCTTACATATTTATTAATTGGCTTTATTTATTTATTTATTTTCGAGACAGAGTCTCACTTCATCACCCAGGCTGGAGTGCGCTGGCACAATCTCGGCTCACTGCAACCTCTACCTCCCGGGTTCCAGCAGTTCTCCTGCCTCAACCTCCAGAGTAGCTGGGATTACAGGGACCCGCCACCATGCCCGGCTAATTTTTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCTGGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCGCTGCTTTGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACTGCTCCCGGCCTCATTAATTGGCTTTCTGTAGTAAGATAGTGCTTTTCCTTTGCTCTCATTTATTTGTATCAGTTATGGACCGTGGGTTCCTGTTTTATTTGATGGGGCTGAA
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TTCAGCTGAGACCTGAAAGATGAGTTGGTTACTTGTGTTCAGAAGCCAAAAAAAGCATCCAAGAAGAGAAGAAAAGCACATGAAAAGGCCCAGAGACAAGACAGTATGCCTGGGGAGTCAGAGGGAGGATCACTTGAAGTCAGGAGTTCGAGGCCAGCCCGGCCAACATGGCAGTAAGAGGGCTGTCTAACCCAAATATTAGGTTTGGAGAGCAGGGAGGTTAAAGAGGAAGTTCCTGGGAAAAAAAAGGAACAGTGGGCAGGGAGGGTCTTACACACCCTGGGGACTGACACTACCGGCCTCTTCCCCAGGAGTGCTGGGAACTCACAGACGTTAACAAATCATTTTGCTGTGATAACCTTTTATGCACCCTACAGCATCATATATGTAAAATCAGACTTATGGTAGAGGCTTGATTCAAATAAGTACAATAAAGACTCATGAAATATTTGGACTGGTAAGAATGTTTGGGCCGGGCTCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAAGCAAGCTGATCATCTGAGGTCAGGAGTTCAAGGCCAGCACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCATTGTGGCAGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGGTAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGCGCCGAGATCACGCCACTGCAGTCCAGCCTGGGTGACAGAATGAGACTCGTCTCAAAAAAAATAAAATTTAATTTTTTTTTTTTAAAGAATGCTTGTAGAGTTTAGAAGTTGTTTGCAAACATAGTATTTCTTTTGGTCTGATTTTTGGTGACACAGCTTTGACAGATTTTTTTTTTCTTTTTATTATTGATATTATTTGAGACAGGGTCTCTCTCTGTCACCCAGGCTGGAGTGCAGTGGCAGGATCATGACTCACTGCAGGCTTGAACTCCTGGGCTCAAGTGATCCTCGCACCTCAGCCTCCTGAGTTGCTGGGACTACAGGCATGTGTACCACCACACCCAGCCAATTTTTTTTATTTTTTGTAGAAACAGGAGTCTCACTATGTTGCCCCAGGCTGGTCTCAAACTCCTGAGTCCAAGCAGTCCTTCTGCCTCAGCCTCCCAAACTGCTGGGATTACTGGCACAAGCCACTGCACCTGGCCAAACAGACTTTTCTTCTTGGTTTCAGGGTTCAAAAAGAATTCTTCGCTCCAACGAGATCGTCCTTCCAGCTAGTGGACTGGTGGAAACAGAGCTCCAATTAACCTTCTCCCTTCAGGTGAGACTCTCCTAATCTTAGGCCCCTAACATGCTATATCCTGGCTAGTCCCCAGACAGTCCTCTAACCCAGAGACTGTTTTATCCCAGAGCCCCCATTCCCCAACTTGGGCAGGAATGAATAAAAGTCACCTGGAGGTTTATGGCTGGCCTGGAGGGCCAAAGCAACCCTTTAGCCAGTGACGGTAAGGGTGTGGAGACCTGGGTAGGCACCGTGGCCCCTTCCCTTCCTCTGCCTTGGCTAACACTGTTAGCCATCTGCTGCACCACATCACATCTCCTTAGTGATCCTCGCACACCCCGTGGACTGTGCCACCATCAGCCTCCACGTCGGGATCTCCGTCCTTCCCCTCTACTCCGTATCCCTCCTAGTCGGTGTCCCTCTCATCGTAATTCCAGTAATTCAATGCCCAAATTGAAACACATGGAGAAAACACCTGATAAAGTGGCAAGGGAAGAGACAGTTCTCTGAATAGGTGTGGACCCCAGAGCTGTGGCGTAGAAGCCAGGCATCAAGCCGAATCAGCTCCACCAGCAGCAACTTCATGGCTCTCCTTTCAACCCTGACTGCCCCCTTTTAGAGACAGGAAGAATTGAAGCACAGAAAGACTGTGTGTCCTCCAGAACCCCTCAAGGACCCAGCTGCCCATTAACCACGCTCGACTCTGTTTTGTATTTCGTAGTACCCTCATTTCCTTAAGCGAGATGCCAACAAGCTGCAGATCATGCTGCAAAGGAGAAAACGTTACAAGAATTGGACCATCTTGGGCTATAAGACCTTGGCCGTGGGACTCATCAACATGGCAGAGGTGAGAGGAACACAGTCTCCAGACTGTTGGCCTTTGAGTCACAGAGCCCAAGGGACACCCCAGCCCAGCCAGTTGAGCCTTCCAGATGATTTTCCCAGCCTGCTGGCTAGGTGCTTAATTCTGTTTTACGAGTTAATTATTTGCTGGAAATTCAGAGTATACTTGTTTTTATCAAATACTGTCTCCTTCATGAAAAGTTTTAATTTTTAAACAGGTAAAACTCAAAAAATTACATAAAATTTCAAACTTTCAGAAAAGTTACAAGAATAGTACAAAGAGTTCCCATATGTGGATTCATCCAAGTTCTTTAACATATCACCACATTTCATATGCTCTCCTCATAGATATATTGATAGGTATTATTTTCTGAGCCATCCGAGAGTAAGTTGCTGGCACGATGCCCCATTACACGTTAATACTGCACCACGTTAATTTCCTTAACATGAGAATACTCTGCTGTCTAAACTCCCTGCCACCATCAAGATCAGGACACTAACGTTGAGATAAGATTGCCGTCTAACCCACAGTCCCTATTCGGATTGTGCTGAGTGTCTCAGTGATACCCTTTATGGGCCTGGGATCCGATCTAGGATTATGTGCCGCATATCACTGTGTCCTTCGTCCCCTTCGGTCTGCAGCAGCCCCTCGGTTTTCCTTACCTTTCATGACCTTGACATTTTTTAAGCGCACAGGCTGGTTACTTTTTTGAATACTCCTCAGTCCAGGTTCGCCTGATGTTGCCTCAAGATTAGATTCCACCTGTGTGTTTCTGGCAGCATTACCACAGAAGTGCTCTGTTCTCAGTGCAGCTTAGGCAGCACCTGATGGCAATTGGTTCCTTTCCTGGGGATATTAACTTTTAATTTTTTTTATTTTTACTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGAAACCCCCGCCTCCCGGGTTCAAGTGATTCTCCTACCTTAGCCTCCTGAGTAGCTGGGACTACAGGCGTGCACCACCATGCCCAGCTAATTTTTTTTTTTTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCATTCTCCTGACCTTGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACTGCGCCTGGCCTTAACTTTTTTTTTTTTTTTTTAGAGACGAGGTCTTGCTCTGTTGTCCAGGCTGGTCTCAAACTCCCAGGCTCAAGCAATCCTCCCTCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATCAGCCTCTGTGCCCGGCCTGATATTATCACTTGGTTAACATGGAGTCTGCAGGGTTTTTCCACCACAAAGTTAATTAATAAGCATTTTGTACTTACTGGAAAAAATATTTTACGAGGAGGTAAATATATTAAGGGGAGAAGAAGAAAGGCAACTATCTTTTTCCTTATCACATTTCACCCACTAGTTTTAGCATCTATTCATGATTCTTGCCTGAATTGGTCATCACTATACTTGGATGCTTACCAGACAGTGAATTTCTAATCCCACCATTCCTTACATATTTATTAATTGGCTTTATTTATTTATTTATTTTCGAGACAGAGTCTCACTTCATCACCCAGGCTGGAGTGCGCTGGCACAATCTCGGCTCACTGCAACCTCTACCTCCCGGGTTCCAGCAGTTCTCCTGCCTCAACCTCCAGAGTAGCTGGGATTACAGGGACCCGCCACCATGCCCGGCTAATTTTTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCTGGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCGCTGCTTTGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACTGCTCCCGGCCTCATTAATTGGCTTTCTGTAGTAAGATAGTGCTTTTCCTTTGCTCTCATTTATTTGTATCAGTTATGGACCGTGGGTTCCTGTTTTATTTGATGGGGCTGAA
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Task1_train_16109
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The gene PACS1 (phosphofurin acidic cluster sorting protein 1) on Chromosome 11 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Schuurs-Hoeijmakers syndrome
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GTTGACTATTCTAGATTTGTGCTTCTTACTTTATAGAAGTTATGCCCTCAGTAAACATTTTGAAAACATAAAGACCAGGCAGAGGCAGGGAAGTAGGCAGGTGTGCGGCCTGTATTGGTAGCAGAGTCCTCCCTGAGGGCTGGATCATTAGGGAGGTAGTGGGCCCAGGGAGGAGGCACGGGAGGTTAATTTAGAAAGGTGGCCCAGGCTGGGTCATGGTGGGCCTCAGAGGCCCCACTAAAGAATCAGACTTGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGTACTTTTGGGAGGCTGAGGCAGGCACATTGTTTGAGCCTGGGGATTCAAGACCAGCCCGGGCAACATGGAAAAACCCGTCTCTACAAAAAAAAAAAAAAAAAAAAAATAGTAATACAAAAAAATTAGCCAGGCATGCTGACATGCACCTGTACTTGGAAGGCTGAGGTAAGATAACCACTTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTGAGACCATGCCACTGCACTCCAGGCTGTGCAAGAGAGCAAGACCCTGTCTAAAAAAAATTTAAAAGGATGTCAGGAATTAGGCTGGGGGCGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGTCTCTACTAAAAATAAGCCGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCAACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCTTGGGCGACAGAGCAAGACTCCGTCTCAAAAATAAATAAATAAATAAAATAAGTAAATAAAATAAATAAAAAAGGATGTCAGGAATTCGAGACCTGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAAAGAAATACAAAATTAGCCAGGCATGATGGCACATGCTTGTAATCCCAGCTAGTCGGGAGGCTGAAGCAGGAGAATTGCTTGAACTTGGGAGGCGGAGGTTGCGGTGAGCCAAGGTTGCGCCAAGATTGTGCCACTGCGCTCCAACCTAGGCAATAAGAGCGAAAGTCCATCCCAAAAAAAAAAAAAGTGATCTGAGGAAAGGCAAAGGCCTGGGCTCAGAAGGTGGGATAGAGAGGGTGGATGTGAGAGTGTGGCCAGAGCGGGACACACAGCAGTGGCTTGGGGATGAGGAAGGAAGGGAGAATCTCAACGGAGATGCAGGTGGCTTTGGCCAAGGTAAGGAATGGGGCTAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAGGAATGGGGCTATGGCCCTCCCTGCTCTCCTAGACCAGATAAGGTCCGGTCAGGGCACCAGGGAGATGCATCTAGGGGTCCCCTCTTCACTCCTGGAGACAGCAGATCATCAGTCCACTCTTCTTGTGCCAGCAGGTCGTTTGTAACTGGATATTTACTGGATTGCAGCATATGGTGCCCACACGGGGTGTACTCAGTCACCCGTGAACAGTGGCGATTTTCCTTCGGCTGAGGCAGGAGCTTTAGGACCACTTGCTTTCAGGAAAAGAAAATGAGTAACTCTCTCTTCAGGATGGTGATGGGGCCTGGCCAGTCCAAGGAGGCTCCTGGGTGGTCACTGAGTGGGAGGTCATCTTCACTGTTTCCTCTCCTCCATGGTAGGAAATCACTGACCAGGACATGTTTGGAGATGCCAGCACGAGTCTGGTTGTGCCGGAGAAAGTCAAAACTCCCATGAAGTCCAGTAAAACGGATCTCCAGGGCTCTGCCTCCCCCAGGTACTGCAGATGGAAAGGAAGCAGGGGGTACAGCCTGCAGCTGTGCTTAGCATGGGCTTCAGGGCTGAGGGAAAGCGGGGCTGGCAGCAGCTTTGGGGTTGGAGGGGCTATTTCACCAGCCTTTTTCCACCTCCCTGGCAGCAAAGTGGAGGGGGTGCACACACCCCGGCAGAAGAGGAGCACGCCCCTGAAGGAGCGGCAGCTCTCCAAGCCCCTAAGTGAGAGGACCAACAGTTCCGACAGCGAGCGCTCCCCAGATCTGGGCCACAGCACGCAGGTACTTCTGGGTGCCCCCAAAACACCAGGACCCTCTGAGATTCCCTGAACTTCAGGCTCTGTTTTGTTGGCTTCCTTGGACAGTTAGTTGGAGAGAAGAGGAATACTTGGAAATGCTCTGAACAAAAACTCTTGAAGAAAGACTAAATTAGAGAGGTCTCCTATATTCCTTGCTTACTGCCAGTGTGGAACTGGCTTCCACGCTGACCTCTAGGGCGCAGGCAGGGGAGCCAAAAACGCTGTGTGGTCGTGGCCTGCCACGGCTGCGAGTGTCGATTCCACACCACCGGTGTCTCTGCCTCCATCAGACGTCAGTCTGGAGATTGTGCCGTGAATCCACTGTTGCAGAGGACAGCAGCCTCTGGATCTCATGGGACATCCTGACCCGAGCTCCCAACCTGAGTATTGCTGTGGGCGGTCATCGTGCTTTCAAGCCGGGAAGCCAACAATATTAAACTGTTTCAATGGAAGGACCCGAGAGTGGGCTGGAGAAGAAGTCAGAAGAACTGGGCCTCAGGAATCGTGTTCTCCTTTTGAAGGCCTGTGGTGTCAGAGATCTGGGACAGGGATTTTCCCGGCACACCTTACACAGTTCCAGTTCTGCTAGGGTTAAACAGCCAGCCTGTTCATTCCCCTGATAACTTACCAAGTGCATTGTCAGTGTGGCCTCCTGAGCTCCATGCTATTACATGGCTGAAAATGAACTTGAGACTAGAATAGCCCAGTGCCTGGGGTGAGGTATTGTCCTTCTTGTTAATCACTGTTCCTGAAATACCTTTTGTTCCCTCAGACAGCAGGTACCCACACAGCACTCATTGCCACTCTCATTATTTCTCTCCCCACTGCCCTCGTTTCTGTTTCTCTGAGCACCTGCTGGCCGCCCTCTGCCTCTCCCTTCCTGGTTCTTACGCTGCTGCCCCTCCTGCCACCCACACCGTTTCCCATCCGCGAGGCTTGCTGCACCTCCATCCTCTCCACCTGCCCTGGCAGGACAACCGCTGTGGCTTTGTTCCTCATCTCCATGTGTCCTCTAAGGACTCGCTTTGCTGCTTCTTTCTCCTCCTTTCCATCGTGGTCTGGCCAGTGGGAGACTGAGTCTCCCTCCCAAAGTCCTGATATCTGTTCTCTCTAACACCCCTGCTCCAGAGACTCCCCATGCACCAGTCCAGCAGCCCTGTCCTCAGGCTCCCCAGGGACTCCCTAACAAGAGACACTTTCTTTTGTTCCTGCAGATTCCAAGAAAGGTGGTGTATGACCAGCTCAATCAGATCCTGGTGTCAGATGCAGCCCTCCCAGAAAATGTCATTCTGGTGAACACCACTGACTGGCAGGGCCAGGTAAGTGCTGAAACTGCGAGGCCATGTGGGGTCCTGGAGGGCAGGCAATGCCCGGTTGCATTGTCAGTGTGGCCTCCATACTATTGCGTGGGGAGGTGGGGAACTCACCCCTCCATCAGCCCCCACCTGCTCTGAACTGAGCCCAGAACTCTGAGTTCTAGTCCAACTTCTGTCATTATCCAACTTGTGGGATCTTAAATCACTAAGTTTGCTCTACCTCAGCTTCCTCATACGTTAAAAAACAAACAAACAAAAAGCAACAGTAATTCCTCCAGGGCGCCACATGCGTCAGGCAGCATAGTGGAACGGAGGCCTGTAGAGAAGCACCCGGCTGTAACCTCCAGGGCTGCCCCATGAAGGCAGGTCAGCAAGGCAGAGCATCCCTGCCTGCTCCCTCACCGCTGTCCACCTGGCTTAGACACTGGTGCCGGGGACACCTGGAGTGTCCTAGCATGTGAAACCCCCTAAGGCTTCCCATCTCTCACACTCTGCGTGTCTCGTGGGTCGGCCCCACCCCCTCCTTACTGGCAGTCCGGAGACCTGGCTGCCTTTGCCCAGCTTCGGTCTGAACTGCAGAGGACAGGGGCCCTGCAGCTCGGTCTGGGTCTCACTTGCCTCTTGGCCCTTGTGAAGGAGTGATGTGTTCTCACCTGTGTCCC
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GTTGACTATTCTAGATTTGTGCTTCTTACTTTATAGAAGTTATGCCCTCAGTAAACATTTTGAAAACATAAAGACCAGGCAGAGGCAGGGAAGTAGGCAGGTGTGCGGCCTGTATTGGTAGCAGAGTCCTCCCTGAGGGCTGGATCATTAGGGAGGTAGTGGGCCCAGGGAGGAGGCACGGGAGGTTAATTTAGAAAGGTGGCCCAGGCTGGGTCATGGTGGGCCTCAGAGGCCCCACTAAAGAATCAGACTTGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGTACTTTTGGGAGGCTGAGGCAGGCACATTGTTTGAGCCTGGGGATTCAAGACCAGCCCGGGCAACATGGAAAAACCCGTCTCTACAAAAAAAAAAAAAAAAAAAAAATAGTAATACAAAAAAATTAGCCAGGCATGCTGACATGCACCTGTACTTGGAAGGCTGAGGTAAGATAACCACTTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTGAGACCATGCCACTGCACTCCAGGCTGTGCAAGAGAGCAAGACCCTGTCTAAAAAAAATTTAAAAGGATGTCAGGAATTAGGCTGGGGGCGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGTCTCTACTAAAAATAAGCCGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCAACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCTTGGGCGACAGAGCAAGACTCCGTCTCAAAAATAAATAAATAAATAAAATAAGTAAATAAAATAAATAAAAAAGGATGTCAGGAATTCGAGACCTGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAAAGAAATACAAAATTAGCCAGGCATGATGGCACATGCTTGTAATCCCAGCTAGTCGGGAGGCTGAAGCAGGAGAATTGCTTGAACTTGGGAGGCGGAGGTTGCGGTGAGCCAAGGTTGCGCCAAGATTGTGCCACTGCGCTCCAACCTAGGCAATAAGAGCGAAAGTCCATCCCAAAAAAAAAAAAAGTGATCTGAGGAAAGGCAAAGGCCTGGGCTCAGAAGGTGGGATAGAGAGGGTGGATGTGAGAGTGTGGCCAGAGCGGGACACACAGCAGTGGCTTGGGGATGAGGAAGGAAGGGAGAATCTCAACGGAGATGCAGGTGGCTTTGGCCAAGGTAAGGAATGGGGCTAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAGGAATGGGGCTATGGCCCTCCCTGCTCTCCTAGACCAGATAAGGTCCGGTCAGGGCACCAGGGAGATGCATCTAGGGGTCCCCTCTTCACTCCTGGAGACAGCAGATCATCAGTCCACTCTTCTTGTGCCAGCAGGTCGTTTGTAACTGGATATTTACTGGATTGCAGCATATGGTGCCCACACGGGGTGTACTCAGTCACCCGTGAACAGTGGCGATTTTCCTTCGGCTGAGGCAGGAGCTTTAGGACCACTTGCTTTCAGGAAAAGAAAATGAGTAACTCTCTCTTCAGGATGGTGATGGGGCCTGGCCAGTCCAAGGAGGCTCCTGGGTGGTCACTGAGTGGGAGGTCATCTTCACTGTTTCCTCTCCTCCATGGTAGGAAATCACTGACCAGGACATGTTTGGAGATGCCAGCACGAGTCTGGTTGTGCCGGAGAAAGTCAAAACTCCCATGAAGTCCAGTAAAACGGATCTCCAGGGCTCTGCCTCCCCCAGGTACTGCAGATGGAAAGGAAGCAGGGGGTACAGCCTGCAGCTGTGCTTAGCATGGGCTTCAGGGCTGAGGGAAAGCGGGGCTGGCAGCAGCTTTGGGGTTGGAGGGGCTATTTCACCAGCCTTTTTCCACCTCCCTGGCAGCAAAGTGGAGGGGGTGCACACACCCCGGCAGAAGAGGAGCACGCCCCTGAAGGAGCGGCAGCTCTCCAAGCCCCTAAGTGAGAAGACCAACAGTTCCGACAGCGAGCGCTCCCCAGATCTGGGCCACAGCACGCAGGTACTTCTGGGTGCCCCCAAAACACCAGGACCCTCTGAGATTCCCTGAACTTCAGGCTCTGTTTTGTTGGCTTCCTTGGACAGTTAGTTGGAGAGAAGAGGAATACTTGGAAATGCTCTGAACAAAAACTCTTGAAGAAAGACTAAATTAGAGAGGTCTCCTATATTCCTTGCTTACTGCCAGTGTGGAACTGGCTTCCACGCTGACCTCTAGGGCGCAGGCAGGGGAGCCAAAAACGCTGTGTGGTCGTGGCCTGCCACGGCTGCGAGTGTCGATTCCACACCACCGGTGTCTCTGCCTCCATCAGACGTCAGTCTGGAGATTGTGCCGTGAATCCACTGTTGCAGAGGACAGCAGCCTCTGGATCTCATGGGACATCCTGACCCGAGCTCCCAACCTGAGTATTGCTGTGGGCGGTCATCGTGCTTTCAAGCCGGGAAGCCAACAATATTAAACTGTTTCAATGGAAGGACCCGAGAGTGGGCTGGAGAAGAAGTCAGAAGAACTGGGCCTCAGGAATCGTGTTCTCCTTTTGAAGGCCTGTGGTGTCAGAGATCTGGGACAGGGATTTTCCCGGCACACCTTACACAGTTCCAGTTCTGCTAGGGTTAAACAGCCAGCCTGTTCATTCCCCTGATAACTTACCAAGTGCATTGTCAGTGTGGCCTCCTGAGCTCCATGCTATTACATGGCTGAAAATGAACTTGAGACTAGAATAGCCCAGTGCCTGGGGTGAGGTATTGTCCTTCTTGTTAATCACTGTTCCTGAAATACCTTTTGTTCCCTCAGACAGCAGGTACCCACACAGCACTCATTGCCACTCTCATTATTTCTCTCCCCACTGCCCTCGTTTCTGTTTCTCTGAGCACCTGCTGGCCGCCCTCTGCCTCTCCCTTCCTGGTTCTTACGCTGCTGCCCCTCCTGCCACCCACACCGTTTCCCATCCGCGAGGCTTGCTGCACCTCCATCCTCTCCACCTGCCCTGGCAGGACAACCGCTGTGGCTTTGTTCCTCATCTCCATGTGTCCTCTAAGGACTCGCTTTGCTGCTTCTTTCTCCTCCTTTCCATCGTGGTCTGGCCAGTGGGAGACTGAGTCTCCCTCCCAAAGTCCTGATATCTGTTCTCTCTAACACCCCTGCTCCAGAGACTCCCCATGCACCAGTCCAGCAGCCCTGTCCTCAGGCTCCCCAGGGACTCCCTAACAAGAGACACTTTCTTTTGTTCCTGCAGATTCCAAGAAAGGTGGTGTATGACCAGCTCAATCAGATCCTGGTGTCAGATGCAGCCCTCCCAGAAAATGTCATTCTGGTGAACACCACTGACTGGCAGGGCCAGGTAAGTGCTGAAACTGCGAGGCCATGTGGGGTCCTGGAGGGCAGGCAATGCCCGGTTGCATTGTCAGTGTGGCCTCCATACTATTGCGTGGGGAGGTGGGGAACTCACCCCTCCATCAGCCCCCACCTGCTCTGAACTGAGCCCAGAACTCTGAGTTCTAGTCCAACTTCTGTCATTATCCAACTTGTGGGATCTTAAATCACTAAGTTTGCTCTACCTCAGCTTCCTCATACGTTAAAAAACAAACAAACAAAAAGCAACAGTAATTCCTCCAGGGCGCCACATGCGTCAGGCAGCATAGTGGAACGGAGGCCTGTAGAGAAGCACCCGGCTGTAACCTCCAGGGCTGCCCCATGAAGGCAGGTCAGCAAGGCAGAGCATCCCTGCCTGCTCCCTCACCGCTGTCCACCTGGCTTAGACACTGGTGCCGGGGACACCTGGAGTGTCCTAGCATGTGAAACCCCCTAAGGCTTCCCATCTCTCACACTCTGCGTGTCTCGTGGGTCGGCCCCACCCCCTCCTTACTGGCAGTCCGGAGACCTGGCTGCCTTTGCCCAGCTTCGGTCTGAACTGCAGAGGACAGGGGCCCTGCAGCTCGGTCTGGGTCTCACTTGCCTCTTGGCCCTTGTGAAGGAGTGATGTGTTCTCACCTGTGTCCC
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Task1_train_16110
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This genomic variant is located on Chromosome 11, within the TMEM151A (transmembrane protein 151A) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Episodic kinesigenic dyskinesia 3
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TCCCAGTGCCGCAGCGCAGCGGGGGATGCTGCCCCCACCCCCAGGGCCGCGGGGTCAGGTCCCCAGCCCGGCCCAGCCGCTCACGAGGTGTCCGGGCAGCGCCTGCAATGCAGCAGCAGTCGCAGAGCCTAGAGGGGAGGAGGGGAAGAGGAAGGGAGGCGCCTGGGTACCCCTTCTCCTTGTCCTCGAGGTGAGGATTGAGGGCCCATTCTGCTGGCTGGGACCCCCGACGGCCCCTCCTCAGCCCTAGCCAGGAAGGTCTGCAGGACCTGGGGCCCCGAGTGATGTGTGGGGTGATAGGGTGGTGAGTGGGGCTGTGCATGCATTTGGGTGAATGTAGCCTGCTTCTGTGTGTGTGTTGTGTGGGTGTGTGAATTGGGTGTGTGCGCCCTGTAGTCAGGTGAGGGGCGAGTGGGTGCCTGGCTCGGGTTGTCACCCAGTGGTCTAGGTGTGCGCATGTGAGTGAGTCCCTTTGTGGGCAGGTCTCTCCCTGTGGAGTCTGAGGAGCCTGGGGGTCAGTTTGCAGTGGGGGGTGGGGAGATGTGCACTGTGGTCAGGTGAAGGTCTGGTATGTCTCTGGGCTTCACTGCACGTGCAACGTGTATGTGCACGTGTGTGTCCTGTGGTGGATGGGTATGTGGTGTGTGCGTGTGTGTGTGTATGTGTGTGTACCATGCTACGGTTCTGGGAGTCTGTGCCCTGGGGACAGGCGAGGGTCTGGAGTTTCCTGGGTGACAGGCAGTGTGGCCCTCCACGGTGGGTGGGTCTGTGATGAGCATGTGTTGGAGGGGCGTGGACAAGTGTGTGTGCACCTGACAGGCCTTGCAGGTCAGCTGGCGCTGTGCTCCCATGCTGGGTGATGGGGACAGGCTGTATCTGGGCTGGGCTAGGGGGTGGTTCCTCTCCTCTTGGGCCTCTGGAGGCCTGGTAGGTCTGGGGTAGGAGAGGTGGCCCCTTAACCCCCCTTTTGTTGTTTCCACTTTTTTCCTCCCCTTTTTACCCTTCCCCTCGCCCCACTTTATCCCTACCTGCTTCTCTCTCCATGGCACCTGAGGGTGAGGTGGCTAGGCTGGCAGCCCTGCCAGGGAGGGTGTGGCAAGCCCTCTGAGCCAGGGAGTGGCCCCTGCTGCCCAGTAGCTGTGTCCCACCCCCTTGCTCAGCACAGATGGGGAGTGGAGGATGGCCCTCCATCTGCTCCCCACCCCAAGACTCGCACCTCCCCCGTTCTTGAGGCTCCCTCTTTCTCATCAACTCAAAAGCCTCTGCCGAGACTTCTGAGTCCCTATGGAACAAGGGACCAGAGGGAGTCTCAGGGTAATGGTGATCATATTTATTCCCATGGCCAGACCCTGTGCTCACTTCTTCACACATATGATCTTGTTGAATCCTCACAATAGAACCAGTTTACAGATGAGGAAATTGAGGTCCAGAGAGGATGAGGGACCTGCCCAAGTCATACAGTAAGTAGTGGAGCCAGCACTGGCTCCTGGGCAGTGGAACTCCAAAGCCCATGCTGTTTACACCTCAGACCCCTTCCACCCTGGCTTCCCAAACCAACAGGACCAAGAATCAAGGCCCAGAGAGGGCAGAGATATAGCCAAGTCCACACAGCAAATCAGGGCAGAGCCAGGACCAGAACCCACAATAGCCAGTGCAAGGATCCATCCCTCCTGGCTGAGGTGGGCCTGCTGTCTCCTGTGTGCGGTTTGCCGAGTGCTAGCACGGCACAGTGGAGGATGGGTTTGGGGCAGCGAGTCCTGGGTTTGAATATGCAGCGCCACTGTGAGTGAGCTGGAAATGTGAAGCCTGGAGCAAGCTGCTCATCCCTCTAAGCCTCAGTTTCCTCCTCTGTAAAATGGGGCTCACGGTATCACCTTCCTCAGCCGGGTTAAGCAAAGTGGCAGGCCCCACTGATGGCCCCACCTGACACAGACTTCCCTTTCTCTGCCCACCTGCAGCAGCGGCCCCTGAAACAGTCCCTGGGAAGCTCCCTGTGCCGCGAGTCGCACTGGAAGTGCCTGCTCCTCACGCTGCTCATCCACGCCTGCGGGGCCGTGGTGGCCTGGTGTCGCCTGGCCACAGTGCCGCGGCTGGTCCTGGGGCCCGAGGCCGCCTTGGCCCGGGGAGCCGGGGGCCCGCCACCGACCTACCCGGCCAGCCCCTGCTCCGATGGCTACCTGTACATCCCGCTGGCCTTCGTCTCCCTCCTCTACCTCCTCTACCTGGCTGAGTGCTGGCACTGTCACGTGCGGTCCTGCCAGGCGCCACGCACCGACGCCCACACGGTGCTGGCGCTGATCCGCCGGCTGCAGCAGGCGCCGCCGTGCGTCTGGTGGAAGGCCACCAGCTATCACTACGTGCGGCGCACACGCCAGATCACGCGCTACCGCAACGGCGACGCCTACACCACCACGCAGGTGTACCATGAGCGCGCTGACAGCCGCACGGCCCGCGGCGAGTTTGACTACTCGGCGCACGGCGTCCGCGACGTCTCCAAGGAGCTGGTGGGGCTGGCGGAGCACGCGGCCACGCGGCTGCGCTTCACCAAGTGCTTCAGCTTCGGCAGCGCGGAGGCCGAGGCCTCGTACCTCACGCAGCGGGCGCGCTTCTTCAGCGCCAACGAGGGCCTGGACGACTATCTGGAGGCGCGCGAGGGCATGCACCTGAAGGACGTAGACTTCCGCGAGTCGCTCATGGTCTTCGCCGACCCCCGCAGCCCGCCCTGGTACGCGCGCGCCTGGGTCTTCTGGCTCGTGTCGGCGGCCACGCTGTCGTGGCCCCTGCGCGTCGTGGCCGCCTATGGCACGGCTCACGTGCACTACCAGGTGGAGAAGCTCTTTGGCGCCAGCTCGCCCCCGCCGGGGGCCGTGCCCAGCGGGCCCCCGCTGTCCCGCGTGGCCACAGTGGACTTCACTGAGCTCGAGTGGCACATCTGCTCCAACCGGCAGCTGGTGCCCAGCTACTCGGAGGCCGTGGTCATGGGCGCGGGCTCGGGCGCCTACCTCAGAGGCTGCCAGCGCTGCCGCCGCTCTGTCAGCAGCAACTCGCTGCCCCCCGCCCGGCCCAGCGGGCCCCGCCTGCCCTTCAGCCGCAGCCGCCTCTCGCTGGGCGCTGGCGGCCGGGCCACGCCAGGGGTCTTCCGCAGCCTGAGCGGGGGGCCGCTGGGGCGCCGTGGAGAGGACACGGAACCCCTGGAGAGCCCGCCCTGCTATGAGGACGCCCTCTACTTCCCGGTGCTCATTGTCCACGGAGACAGCGGCTGCCAGGGGGATGGGCAGGGTGCTCTCTGAGACCCCCCACGGCCCCCAGAGTGGCCCCCTCCCCACCATTCCACCATGGGCTTAGATGCCCGAGTGATTGTTGTCCAAAACAGGCGGGAAAACAGACCAGCCACACACAAGGGGCAGGGGTGAGGGTGGGGGTGGGGGTCCTTAAACAGACTAAAATGCAGTTACCTGTGGTCATTTTGGAGGAAGTGGAAGCCTAAGAATCGCCCCCAGCATGGCTTCATCCCCCAAGATGGCCGATGATCTGGCCTGAAGGCCTCTCACAAAGGGCAGGAGAAGAAGCTTCCAGAAAGGCTGGGATGGAGGAGGAGTCCTGCGGCCAGCTGTTGCCTGCAGCAGAGGCTGCCTGTGGACACTTCCCTACCGGGGCTGAGGCCATGCTGGGAGCCCCCCCAGTGACGCAGAAGCACAAATTGGAGGCTTGGGGCCATGCCCAGCCAGGTTGGCTTCCCTGGGGCTGAAGAGCTGGCTGTGGTGGCACCATGGCCTTGGCCCTGCTACTCACCCAACATTCCCATCCTCCCCTGATAGGCCCCTCCTCCTTGCCTGCCCTCTCTCCCGCTGCTCAGGGCCAGTCACTCCCCCCACATGCAGCTACCCCTACAACCTGGGGTTCCTTCTCAGGGCCTCACCTGGTCCCCACATCCCCTGGCCTCTGCTCCTGCCTCCCAAAGTCCATGTCTGCCTCCATCAGCCACACACACGCAGGGACGCCCGTTCCTTGCCCTCCCGGACTTATCTACTCTTCACTTTCCTGATGATCCATGGGGCCCAGGCCTAGAGGGCATCCGAGGGGCTGGGCCTTGGCC
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TCCCAGTGCCGCAGCGCAGCGGGGGATGCTGCCCCCACCCCCAGGGCCGCGGGGTCAGGTCCCCAGCCCGGCCCAGCCGCTCACGAGGTGTCCGGGCAGCGCCTGCAATGCAGCAGCAGTCGCAGAGCCTAGAGGGGAGGAGGGGAAGAGGAAGGGAGGCGCCTGGGTACCCCTTCTCCTTGTCCTCGAGGTGAGGATTGAGGGCCCATTCTGCTGGCTGGGACCCCCGACGGCCCCTCCTCAGCCCTAGCCAGGAAGGTCTGCAGGACCTGGGGCCCCGAGTGATGTGTGGGGTGATAGGGTGGTGAGTGGGGCTGTGCATGCATTTGGGTGAATGTAGCCTGCTTCTGTGTGTGTGTTGTGTGGGTGTGTGAATTGGGTGTGTGCGCCCTGTAGTCAGGTGAGGGGCGAGTGGGTGCCTGGCTCGGGTTGTCACCCAGTGGTCTAGGTGTGCGCATGTGAGTGAGTCCCTTTGTGGGCAGGTCTCTCCCTGTGGAGTCTGAGGAGCCTGGGGGTCAGTTTGCAGTGGGGGGTGGGGAGATGTGCACTGTGGTCAGGTGAAGGTCTGGTATGTCTCTGGGCTTCACTGCACGTGCAACGTGTATGTGCACGTGTGTGTCCTGTGGTGGATGGGTATGTGGTGTGTGCGTGTGTGTGTGTATGTGTGTGTACCATGCTACGGTTCTGGGAGTCTGTGCCCTGGGGACAGGCGAGGGTCTGGAGTTTCCTGGGTGACAGGCAGTGTGGCCCTCCACGGTGGGTGGGTCTGTGATGAGCATGTGTTGGAGGGGCGTGGACAAGTGTGTGTGCACCTGACAGGCCTTGCAGGTCAGCTGGCGCTGTGCTCCCATGCTGGGTGATGGGGACAGGCTGTATCTGGGCTGGGCTAGGGGGTGGTTCCTCTCCTCTTGGGCCTCTGGAGGCCTGGTAGGTCTGGGGTAGGAGAGGTGGCCCCTTAACCCCCCTTTTGTTGTTTCCACTTTTTTCCTCCCCTTTTTACCCTTCCCCTCGCCCCACTTTATCCCTACCTGCTTCTCTCTCCATGGCACCTGAGGGTGAGGTGGCTAGGCTGGCAGCCCTGCCAGGGAGGGTGTGGCAAGCCCTCTGAGCCAGGGAGTGGCCCCTGCTGCCCAGTAGCTGTGTCCCACCCCCTTGCTCAGCACAGATGGGGAGTGGAGGATGGCCCTCCATCTGCTCCCCACCCCAAGACTCGCACCTCCCCCGTTCTTGAGGCTCCCTCTTTCTCATCAACTCAAAAGCCTCTGCCGAGACTTCTGAGTCCCTATGGAACAAGGGACCAGAGGGAGTCTCAGGGTAATGGTGATCATATTTATTCCCATGGCCAGACCCTGTGCTCACTTCTTCACACATATGATCTTGTTGAATCCTCACAATAGAACCAGTTTACAGATGAGGAAATTGAGGTCCAGAGAGGATGAGGGACCTGCCCAAGTCATACAGTAAGTAGTGGAGCCAGCACTGGCTCCTGGGCAGTGGAACTCCAAAGCCCATGCTGTTTACACCTCAGACCCCTTCCACCCTGGCTTCCCAAACCAACAGGACCAAGAATCAAGGCCCAGAGAGGGCAGAGATATAGCCAAGTCCACACAGCAAATCAGGGCAGAGCCAGGACCAGAACCCACAATAGCCAGTGCAAGGATCCATCCCTCCTGGCTGAGGTGGGCCTGCTGTCTCCTGTGTGCGGTTTGCCGAGTGCTAGCACGGCACAGTGGAGGATGGGTTTGGGGCAGCGAGTCCTGGGTTTGAATATGCAGCGCCACTGTGAGTGAGCTGGAAATGTGAAGCCTGGAGCAAGCTGCTCATCCCTCTAAGCCTCAGTTTCCTCCTCTGTAAAATGGGGCTCACGGTATCACCTTCCTCAGCCGGGTTAAGCAAAGTGGCAGGCCCCACTGATGGCCCCACCTGACACAGACTTCCCTTTCTCTGCCCACCTGCAGCAGCGGCCCCTGAAACAGTCCCTGGGAAGCTCCCTGTGCCGCGAGTCGCACTGGAAGTGCCTGCTCCTCACGCTGCTCATCCACGCCTGCCGGGCCGTGGTGGCCTGGTGTCGCCTGGCCACAGTGCCGCGGCTGGTCCTGGGGCCCGAGGCCGCCTTGGCCCGGGGAGCCGGGGGCCCGCCACCGACCTACCCGGCCAGCCCCTGCTCCGATGGCTACCTGTACATCCCGCTGGCCTTCGTCTCCCTCCTCTACCTCCTCTACCTGGCTGAGTGCTGGCACTGTCACGTGCGGTCCTGCCAGGCGCCACGCACCGACGCCCACACGGTGCTGGCGCTGATCCGCCGGCTGCAGCAGGCGCCGCCGTGCGTCTGGTGGAAGGCCACCAGCTATCACTACGTGCGGCGCACACGCCAGATCACGCGCTACCGCAACGGCGACGCCTACACCACCACGCAGGTGTACCATGAGCGCGCTGACAGCCGCACGGCCCGCGGCGAGTTTGACTACTCGGCGCACGGCGTCCGCGACGTCTCCAAGGAGCTGGTGGGGCTGGCGGAGCACGCGGCCACGCGGCTGCGCTTCACCAAGTGCTTCAGCTTCGGCAGCGCGGAGGCCGAGGCCTCGTACCTCACGCAGCGGGCGCGCTTCTTCAGCGCCAACGAGGGCCTGGACGACTATCTGGAGGCGCGCGAGGGCATGCACCTGAAGGACGTAGACTTCCGCGAGTCGCTCATGGTCTTCGCCGACCCCCGCAGCCCGCCCTGGTACGCGCGCGCCTGGGTCTTCTGGCTCGTGTCGGCGGCCACGCTGTCGTGGCCCCTGCGCGTCGTGGCCGCCTATGGCACGGCTCACGTGCACTACCAGGTGGAGAAGCTCTTTGGCGCCAGCTCGCCCCCGCCGGGGGCCGTGCCCAGCGGGCCCCCGCTGTCCCGCGTGGCCACAGTGGACTTCACTGAGCTCGAGTGGCACATCTGCTCCAACCGGCAGCTGGTGCCCAGCTACTCGGAGGCCGTGGTCATGGGCGCGGGCTCGGGCGCCTACCTCAGAGGCTGCCAGCGCTGCCGCCGCTCTGTCAGCAGCAACTCGCTGCCCCCCGCCCGGCCCAGCGGGCCCCGCCTGCCCTTCAGCCGCAGCCGCCTCTCGCTGGGCGCTGGCGGCCGGGCCACGCCAGGGGTCTTCCGCAGCCTGAGCGGGGGGCCGCTGGGGCGCCGTGGAGAGGACACGGAACCCCTGGAGAGCCCGCCCTGCTATGAGGACGCCCTCTACTTCCCGGTGCTCATTGTCCACGGAGACAGCGGCTGCCAGGGGGATGGGCAGGGTGCTCTCTGAGACCCCCCACGGCCCCCAGAGTGGCCCCCTCCCCACCATTCCACCATGGGCTTAGATGCCCGAGTGATTGTTGTCCAAAACAGGCGGGAAAACAGACCAGCCACACACAAGGGGCAGGGGTGAGGGTGGGGGTGGGGGTCCTTAAACAGACTAAAATGCAGTTACCTGTGGTCATTTTGGAGGAAGTGGAAGCCTAAGAATCGCCCCCAGCATGGCTTCATCCCCCAAGATGGCCGATGATCTGGCCTGAAGGCCTCTCACAAAGGGCAGGAGAAGAAGCTTCCAGAAAGGCTGGGATGGAGGAGGAGTCCTGCGGCCAGCTGTTGCCTGCAGCAGAGGCTGCCTGTGGACACTTCCCTACCGGGGCTGAGGCCATGCTGGGAGCCCCCCCAGTGACGCAGAAGCACAAATTGGAGGCTTGGGGCCATGCCCAGCCAGGTTGGCTTCCCTGGGGCTGAAGAGCTGGCTGTGGTGGCACCATGGCCTTGGCCCTGCTACTCACCCAACATTCCCATCCTCCCCTGATAGGCCCCTCCTCCTTGCCTGCCCTCTCTCCCGCTGCTCAGGGCCAGTCACTCCCCCCACATGCAGCTACCCCTACAACCTGGGGTTCCTTCTCAGGGCCTCACCTGGTCCCCACATCCCCTGGCCTCTGCTCCTGCCTCCCAAAGTCCATGTCTGCCTCCATCAGCCACACACACGCAGGGACGCCCGTTCCTTGCCCTCCCGGACTTATCTACTCTTCACTTTCCTGATGATCCATGGGGCCCAGGCCTAGAGGGCATCCGAGGGGCTGGGCCTTGGCC
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Task1_train_16111
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Here is a genetic alteration in TMEM151A (transmembrane protein 151A) on Chromosome 11. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Episodic kinesigenic dyskinesia 3
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GTGCAACGTGTATGTGCACGTGTGTGTCCTGTGGTGGATGGGTATGTGGTGTGTGCGTGTGTGTGTGTATGTGTGTGTACCATGCTACGGTTCTGGGAGTCTGTGCCCTGGGGACAGGCGAGGGTCTGGAGTTTCCTGGGTGACAGGCAGTGTGGCCCTCCACGGTGGGTGGGTCTGTGATGAGCATGTGTTGGAGGGGCGTGGACAAGTGTGTGTGCACCTGACAGGCCTTGCAGGTCAGCTGGCGCTGTGCTCCCATGCTGGGTGATGGGGACAGGCTGTATCTGGGCTGGGCTAGGGGGTGGTTCCTCTCCTCTTGGGCCTCTGGAGGCCTGGTAGGTCTGGGGTAGGAGAGGTGGCCCCTTAACCCCCCTTTTGTTGTTTCCACTTTTTTCCTCCCCTTTTTACCCTTCCCCTCGCCCCACTTTATCCCTACCTGCTTCTCTCTCCATGGCACCTGAGGGTGAGGTGGCTAGGCTGGCAGCCCTGCCAGGGAGGGTGTGGCAAGCCCTCTGAGCCAGGGAGTGGCCCCTGCTGCCCAGTAGCTGTGTCCCACCCCCTTGCTCAGCACAGATGGGGAGTGGAGGATGGCCCTCCATCTGCTCCCCACCCCAAGACTCGCACCTCCCCCGTTCTTGAGGCTCCCTCTTTCTCATCAACTCAAAAGCCTCTGCCGAGACTTCTGAGTCCCTATGGAACAAGGGACCAGAGGGAGTCTCAGGGTAATGGTGATCATATTTATTCCCATGGCCAGACCCTGTGCTCACTTCTTCACACATATGATCTTGTTGAATCCTCACAATAGAACCAGTTTACAGATGAGGAAATTGAGGTCCAGAGAGGATGAGGGACCTGCCCAAGTCATACAGTAAGTAGTGGAGCCAGCACTGGCTCCTGGGCAGTGGAACTCCAAAGCCCATGCTGTTTACACCTCAGACCCCTTCCACCCTGGCTTCCCAAACCAACAGGACCAAGAATCAAGGCCCAGAGAGGGCAGAGATATAGCCAAGTCCACACAGCAAATCAGGGCAGAGCCAGGACCAGAACCCACAATAGCCAGTGCAAGGATCCATCCCTCCTGGCTGAGGTGGGCCTGCTGTCTCCTGTGTGCGGTTTGCCGAGTGCTAGCACGGCACAGTGGAGGATGGGTTTGGGGCAGCGAGTCCTGGGTTTGAATATGCAGCGCCACTGTGAGTGAGCTGGAAATGTGAAGCCTGGAGCAAGCTGCTCATCCCTCTAAGCCTCAGTTTCCTCCTCTGTAAAATGGGGCTCACGGTATCACCTTCCTCAGCCGGGTTAAGCAAAGTGGCAGGCCCCACTGATGGCCCCACCTGACACAGACTTCCCTTTCTCTGCCCACCTGCAGCAGCGGCCCCTGAAACAGTCCCTGGGAAGCTCCCTGTGCCGCGAGTCGCACTGGAAGTGCCTGCTCCTCACGCTGCTCATCCACGCCTGCGGGGCCGTGGTGGCCTGGTGTCGCCTGGCCACAGTGCCGCGGCTGGTCCTGGGGCCCGAGGCCGCCTTGGCCCGGGGAGCCGGGGGCCCGCCACCGACCTACCCGGCCAGCCCCTGCTCCGATGGCTACCTGTACATCCCGCTGGCCTTCGTCTCCCTCCTCTACCTCCTCTACCTGGCTGAGTGCTGGCACTGTCACGTGCGGTCCTGCCAGGCGCCACGCACCGACGCCCACACGGTGCTGGCGCTGATCCGCCGGCTGCAGCAGGCGCCGCCGTGCGTCTGGTGGAAGGCCACCAGCTATCACTACGTGCGGCGCACACGCCAGATCACGCGCTACCGCAACGGCGACGCCTACACCACCACGCAGGTGTACCATGAGCGCGCTGACAGCCGCACGGCCCGCGGCGAGTTTGACTACTCGGCGCACGGCGTCCGCGACGTCTCCAAGGAGCTGGTGGGGCTGGCGGAGCACGCGGCCACGCGGCTGCGCTTCACCAAGTGCTTCAGCTTCGGCAGCGCGGAGGCCGAGGCCTCGTACCTCACGCAGCGGGCGCGCTTCTTCAGCGCCAACGAGGGCCTGGACGACTATCTGGAGGCGCGCGAGGGCATGCACCTGAAGGACGTAGACTTCCGCGAGTCGCTCATGGTCTTCGCCGACCCCCGCAGCCCGCCCTGGTACGCGCGCGCCTGGGTCTTCTGGCTCGTGTCGGCGGCCACGCTGTCGTGGCCCCTGCGCGTCGTGGCCGCCTATGGCACGGCTCACGTGCACTACCAGGTGGAGAAGCTCTTTGGCGCCAGCTCGCCCCCGCCGGGGGCCGTGCCCAGCGGGCCCCCGCTGTCCCGCGTGGCCACAGTGGACTTCACTGAGCTCGAGTGGCACATCTGCTCCAACCGGCAGCTGGTGCCCAGCTACTCGGAGGCCGTGGTCATGGGCGCGGGCTCGGGCGCCTACCTCAGAGGCTGCCAGCGCTGCCGCCGCTCTGTCAGCAGCAACTCGCTGCCCCCCGCCCGGCCCAGCGGGCCCCGCCTGCCCTTCAGCCGCAGCCGCCTCTCGCTGGGCGCTGGCGGCCGGGCCACGCCAGGGGTCTTCCGCAGCCTGAGCGGGGGGCCGCTGGGGCGCCGTGGAGAGGACACGGAACCCCTGGAGAGCCCGCCCTGCTATGAGGACGCCCTCTACTTCCCGGTGCTCATTGTCCACGGAGACAGCGGCTGCCAGGGGGATGGGCAGGGTGCTCTCTGAGACCCCCCACGGCCCCCAGAGTGGCCCCCTCCCCACCATTCCACCATGGGCTTAGATGCCCGAGTGATTGTTGTCCAAAACAGGCGGGAAAACAGACCAGCCACACACAAGGGGCAGGGGTGAGGGTGGGGGTGGGGGTCCTTAAACAGACTAAAATGCAGTTACCTGTGGTCATTTTGGAGGAAGTGGAAGCCTAAGAATCGCCCCCAGCATGGCTTCATCCCCCAAGATGGCCGATGATCTGGCCTGAAGGCCTCTCACAAAGGGCAGGAGAAGAAGCTTCCAGAAAGGCTGGGATGGAGGAGGAGTCCTGCGGCCAGCTGTTGCCTGCAGCAGAGGCTGCCTGTGGACACTTCCCTACCGGGGCTGAGGCCATGCTGGGAGCCCCCCCAGTGACGCAGAAGCACAAATTGGAGGCTTGGGGCCATGCCCAGCCAGGTTGGCTTCCCTGGGGCTGAAGAGCTGGCTGTGGTGGCACCATGGCCTTGGCCCTGCTACTCACCCAACATTCCCATCCTCCCCTGATAGGCCCCTCCTCCTTGCCTGCCCTCTCTCCCGCTGCTCAGGGCCAGTCACTCCCCCCACATGCAGCTACCCCTACAACCTGGGGTTCCTTCTCAGGGCCTCACCTGGTCCCCACATCCCCTGGCCTCTGCTCCTGCCTCCCAAAGTCCATGTCTGCCTCCATCAGCCACACACACGCAGGGACGCCCGTTCCTTGCCCTCCCGGACTTATCTACTCTTCACTTTCCTGATGATCCATGGGGCCCAGGCCTAGAGGGCATCCGAGGGGCTGGGCCTTGGCCACAGCCTCTTGGATGATGTCCTTGCTCCACCACGCAGGCCCTTGCTTCTCCCATCAACGAGTCTTGGCCCAGGGGACACTGACCCTCCCCCAGGGAGGAGAGAGGAGTTCCTTCCCTTTCAACGAGGGCTTCCACGCCCTCTAAGGGGTGGCGGGGAAGGGAGGAGGCTGAGAAGATGCAGATTAAATAAAGGTATGGAATGGAAGGCCTGTGCATTCCTGGGTCATGGGTCTAAGGCCTCCACTGCAAGCATTATGGGCCCCCATGGTTCAGGGCACGATGAGGGGTTCTGGGAAGGGACTCAGAATTGGGCTCCAGTGTTCCCAGGAACCAAGTAAGCAGAGGAGAGGAAACCTCCCCTGCCTAGCCTGGGGCCTCTGAGACTCAAGTGTGAGGCGCTCTGAGCACCTGGCTCCCCTGACTCCGGTATCTGGGCCTGGGTCACTGCTAAGGCATTGTCAAGGTGGCCCTTGTTCCAGCTCAGTGGGACATTCCACTCTGCTGCTGGGCATGCCGAGGGCTAAGGGAGTGGTGGCCGGTCCCCAAAGTGGGGAGAAAGAGCTATGGTCTGTGACTCGAATTCGGTGCCCCC
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GTGCAACGTGTATGTGCACGTGTGTGTCCTGTGGTGGATGGGTATGTGGTGTGTGCGTGTGTGTGTGTATGTGTGTGTACCATGCTACGGTTCTGGGAGTCTGTGCCCTGGGGACAGGCGAGGGTCTGGAGTTTCCTGGGTGACAGGCAGTGTGGCCCTCCACGGTGGGTGGGTCTGTGATGAGCATGTGTTGGAGGGGCGTGGACAAGTGTGTGTGCACCTGACAGGCCTTGCAGGTCAGCTGGCGCTGTGCTCCCATGCTGGGTGATGGGGACAGGCTGTATCTGGGCTGGGCTAGGGGGTGGTTCCTCTCCTCTTGGGCCTCTGGAGGCCTGGTAGGTCTGGGGTAGGAGAGGTGGCCCCTTAACCCCCCTTTTGTTGTTTCCACTTTTTTCCTCCCCTTTTTACCCTTCCCCTCGCCCCACTTTATCCCTACCTGCTTCTCTCTCCATGGCACCTGAGGGTGAGGTGGCTAGGCTGGCAGCCCTGCCAGGGAGGGTGTGGCAAGCCCTCTGAGCCAGGGAGTGGCCCCTGCTGCCCAGTAGCTGTGTCCCACCCCCTTGCTCAGCACAGATGGGGAGTGGAGGATGGCCCTCCATCTGCTCCCCACCCCAAGACTCGCACCTCCCCCGTTCTTGAGGCTCCCTCTTTCTCATCAACTCAAAAGCCTCTGCCGAGACTTCTGAGTCCCTATGGAACAAGGGACCAGAGGGAGTCTCAGGGTAATGGTGATCATATTTATTCCCATGGCCAGACCCTGTGCTCACTTCTTCACACATATGATCTTGTTGAATCCTCACAATAGAACCAGTTTACAGATGAGGAAATTGAGGTCCAGAGAGGATGAGGGACCTGCCCAAGTCATACAGTAAGTAGTGGAGCCAGCACTGGCTCCTGGGCAGTGGAACTCCAAAGCCCATGCTGTTTACACCTCAGACCCCTTCCACCCTGGCTTCCCAAACCAACAGGACCAAGAATCAAGGCCCAGAGAGGGCAGAGATATAGCCAAGTCCACACAGCAAATCAGGGCAGAGCCAGGACCAGAACCCACAATAGCCAGTGCAAGGATCCATCCCTCCTGGCTGAGGTGGGCCTGCTGTCTCCTGTGTGCGGTTTGCCGAGTGCTAGCACGGCACAGTGGAGGATGGGTTTGGGGCAGCGAGTCCTGGGTTTGAATATGCAGCGCCACTGTGAGTGAGCTGGAAATGTGAAGCCTGGAGCAAGCTGCTCATCCCTCTAAGCCTCAGTTTCCTCCTCTGTAAAATGGGGCTCACGGTATCACCTTCCTCAGCCGGGTTAAGCAAAGTGGCAGGCCCCACTGATGGCCCCACCTGACACAGACTTCCCTTTCTCTGCCCACCTGCAGCAGCGGCCCCTGAAACAGTCCCTGGGAAGCTCCCTGTGCCGCGAGTCGCACTGGAAGTGCCTGCTCCTCACGCTGCTCATCCACGCCTGCGGGGCCGTGGTGGCCTGGTGTCGCCTGGCCACAGTGCCGCGGCTGGTCCTGGGGCCCGAGGCCGCCTTGGCCCGGGGAGCCGGGGGCCCGCCACCGACCTACCCGGCCAGCCCCTGCTCCGATGGCTACCTGTACATCCCGCTGGCCTTCGTCTCCCTCCTCTACCTCCTCTACCTGGCTGAGTGCTGGCACTGTCACGTGCGGTCCTGCCAGGCGCCACGCACCGACGCCCACACGGTGCTGGCGCTGATCCGCCGGCTGCAGCAGGCGCCGCCGTGCGTCTGGTGGAAGGCCACCAGCTATCACTACGTGCGGCGCACACGCCAGATCACGCGCTACCGCAACGGCGACGCCTACACCACCACGCAGGTGTACCATGAGCGCGCTGACAGCCGCACGGCCCGCGGCGAGTTTGACTACTCGGCGCACGGCGTCCGCGACGTCTCCAAGGAGCTGGTGGGGCTGGCGGAGCACGCGGCCACGCGGCTGCGCTTCACCAAGTGCTTCAGCTTCGGCAGCGCGGAGGCCGAGGCCTCGTACCTCACGCAGCGGGCGCGCTTCTTCAGCGCCAACGAGGGCCTGGACGACTATCCGGAGGCGCGCGAGGGCATGCACCTGAAGGACGTAGACTTCCGCGAGTCGCTCATGGTCTTCGCCGACCCCCGCAGCCCGCCCTGGTACGCGCGCGCCTGGGTCTTCTGGCTCGTGTCGGCGGCCACGCTGTCGTGGCCCCTGCGCGTCGTGGCCGCCTATGGCACGGCTCACGTGCACTACCAGGTGGAGAAGCTCTTTGGCGCCAGCTCGCCCCCGCCGGGGGCCGTGCCCAGCGGGCCCCCGCTGTCCCGCGTGGCCACAGTGGACTTCACTGAGCTCGAGTGGCACATCTGCTCCAACCGGCAGCTGGTGCCCAGCTACTCGGAGGCCGTGGTCATGGGCGCGGGCTCGGGCGCCTACCTCAGAGGCTGCCAGCGCTGCCGCCGCTCTGTCAGCAGCAACTCGCTGCCCCCCGCCCGGCCCAGCGGGCCCCGCCTGCCCTTCAGCCGCAGCCGCCTCTCGCTGGGCGCTGGCGGCCGGGCCACGCCAGGGGTCTTCCGCAGCCTGAGCGGGGGGCCGCTGGGGCGCCGTGGAGAGGACACGGAACCCCTGGAGAGCCCGCCCTGCTATGAGGACGCCCTCTACTTCCCGGTGCTCATTGTCCACGGAGACAGCGGCTGCCAGGGGGATGGGCAGGGTGCTCTCTGAGACCCCCCACGGCCCCCAGAGTGGCCCCCTCCCCACCATTCCACCATGGGCTTAGATGCCCGAGTGATTGTTGTCCAAAACAGGCGGGAAAACAGACCAGCCACACACAAGGGGCAGGGGTGAGGGTGGGGGTGGGGGTCCTTAAACAGACTAAAATGCAGTTACCTGTGGTCATTTTGGAGGAAGTGGAAGCCTAAGAATCGCCCCCAGCATGGCTTCATCCCCCAAGATGGCCGATGATCTGGCCTGAAGGCCTCTCACAAAGGGCAGGAGAAGAAGCTTCCAGAAAGGCTGGGATGGAGGAGGAGTCCTGCGGCCAGCTGTTGCCTGCAGCAGAGGCTGCCTGTGGACACTTCCCTACCGGGGCTGAGGCCATGCTGGGAGCCCCCCCAGTGACGCAGAAGCACAAATTGGAGGCTTGGGGCCATGCCCAGCCAGGTTGGCTTCCCTGGGGCTGAAGAGCTGGCTGTGGTGGCACCATGGCCTTGGCCCTGCTACTCACCCAACATTCCCATCCTCCCCTGATAGGCCCCTCCTCCTTGCCTGCCCTCTCTCCCGCTGCTCAGGGCCAGTCACTCCCCCCACATGCAGCTACCCCTACAACCTGGGGTTCCTTCTCAGGGCCTCACCTGGTCCCCACATCCCCTGGCCTCTGCTCCTGCCTCCCAAAGTCCATGTCTGCCTCCATCAGCCACACACACGCAGGGACGCCCGTTCCTTGCCCTCCCGGACTTATCTACTCTTCACTTTCCTGATGATCCATGGGGCCCAGGCCTAGAGGGCATCCGAGGGGCTGGGCCTTGGCCACAGCCTCTTGGATGATGTCCTTGCTCCACCACGCAGGCCCTTGCTTCTCCCATCAACGAGTCTTGGCCCAGGGGACACTGACCCTCCCCCAGGGAGGAGAGAGGAGTTCCTTCCCTTTCAACGAGGGCTTCCACGCCCTCTAAGGGGTGGCGGGGAAGGGAGGAGGCTGAGAAGATGCAGATTAAATAAAGGTATGGAATGGAAGGCCTGTGCATTCCTGGGTCATGGGTCTAAGGCCTCCACTGCAAGCATTATGGGCCCCCATGGTTCAGGGCACGATGAGGGGTTCTGGGAAGGGACTCAGAATTGGGCTCCAGTGTTCCCAGGAACCAAGTAAGCAGAGGAGAGGAAACCTCCCCTGCCTAGCCTGGGGCCTCTGAGACTCAAGTGTGAGGCGCTCTGAGCACCTGGCTCCCCTGACTCCGGTATCTGGGCCTGGGTCACTGCTAAGGCATTGTCAAGGTGGCCCTTGTTCCAGCTCAGTGGGACATTCCACTCTGCTGCTGGGCATGCCGAGGGCTAAGGGAGTGGTGGCCGGTCCCCAAAGTGGGGAGAAAGAGCTATGGTCTGTGACTCGAATTCGGTGCCCCC
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Task1_train_16112
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A variant was discovered in gene TMEM151A (transmembrane protein 151A), Chromosome 11. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Episodic kinesigenic dyskinesia 3
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GAGGCCTGGTAGGTCTGGGGTAGGAGAGGTGGCCCCTTAACCCCCCTTTTGTTGTTTCCACTTTTTTCCTCCCCTTTTTACCCTTCCCCTCGCCCCACTTTATCCCTACCTGCTTCTCTCTCCATGGCACCTGAGGGTGAGGTGGCTAGGCTGGCAGCCCTGCCAGGGAGGGTGTGGCAAGCCCTCTGAGCCAGGGAGTGGCCCCTGCTGCCCAGTAGCTGTGTCCCACCCCCTTGCTCAGCACAGATGGGGAGTGGAGGATGGCCCTCCATCTGCTCCCCACCCCAAGACTCGCACCTCCCCCGTTCTTGAGGCTCCCTCTTTCTCATCAACTCAAAAGCCTCTGCCGAGACTTCTGAGTCCCTATGGAACAAGGGACCAGAGGGAGTCTCAGGGTAATGGTGATCATATTTATTCCCATGGCCAGACCCTGTGCTCACTTCTTCACACATATGATCTTGTTGAATCCTCACAATAGAACCAGTTTACAGATGAGGAAATTGAGGTCCAGAGAGGATGAGGGACCTGCCCAAGTCATACAGTAAGTAGTGGAGCCAGCACTGGCTCCTGGGCAGTGGAACTCCAAAGCCCATGCTGTTTACACCTCAGACCCCTTCCACCCTGGCTTCCCAAACCAACAGGACCAAGAATCAAGGCCCAGAGAGGGCAGAGATATAGCCAAGTCCACACAGCAAATCAGGGCAGAGCCAGGACCAGAACCCACAATAGCCAGTGCAAGGATCCATCCCTCCTGGCTGAGGTGGGCCTGCTGTCTCCTGTGTGCGGTTTGCCGAGTGCTAGCACGGCACAGTGGAGGATGGGTTTGGGGCAGCGAGTCCTGGGTTTGAATATGCAGCGCCACTGTGAGTGAGCTGGAAATGTGAAGCCTGGAGCAAGCTGCTCATCCCTCTAAGCCTCAGTTTCCTCCTCTGTAAAATGGGGCTCACGGTATCACCTTCCTCAGCCGGGTTAAGCAAAGTGGCAGGCCCCACTGATGGCCCCACCTGACACAGACTTCCCTTTCTCTGCCCACCTGCAGCAGCGGCCCCTGAAACAGTCCCTGGGAAGCTCCCTGTGCCGCGAGTCGCACTGGAAGTGCCTGCTCCTCACGCTGCTCATCCACGCCTGCGGGGCCGTGGTGGCCTGGTGTCGCCTGGCCACAGTGCCGCGGCTGGTCCTGGGGCCCGAGGCCGCCTTGGCCCGGGGAGCCGGGGGCCCGCCACCGACCTACCCGGCCAGCCCCTGCTCCGATGGCTACCTGTACATCCCGCTGGCCTTCGTCTCCCTCCTCTACCTCCTCTACCTGGCTGAGTGCTGGCACTGTCACGTGCGGTCCTGCCAGGCGCCACGCACCGACGCCCACACGGTGCTGGCGCTGATCCGCCGGCTGCAGCAGGCGCCGCCGTGCGTCTGGTGGAAGGCCACCAGCTATCACTACGTGCGGCGCACACGCCAGATCACGCGCTACCGCAACGGCGACGCCTACACCACCACGCAGGTGTACCATGAGCGCGCTGACAGCCGCACGGCCCGCGGCGAGTTTGACTACTCGGCGCACGGCGTCCGCGACGTCTCCAAGGAGCTGGTGGGGCTGGCGGAGCACGCGGCCACGCGGCTGCGCTTCACCAAGTGCTTCAGCTTCGGCAGCGCGGAGGCCGAGGCCTCGTACCTCACGCAGCGGGCGCGCTTCTTCAGCGCCAACGAGGGCCTGGACGACTATCTGGAGGCGCGCGAGGGCATGCACCTGAAGGACGTAGACTTCCGCGAGTCGCTCATGGTCTTCGCCGACCCCCGCAGCCCGCCCTGGTACGCGCGCGCCTGGGTCTTCTGGCTCGTGTCGGCGGCCACGCTGTCGTGGCCCCTGCGCGTCGTGGCCGCCTATGGCACGGCTCACGTGCACTACCAGGTGGAGAAGCTCTTTGGCGCCAGCTCGCCCCCGCCGGGGGCCGTGCCCAGCGGGCCCCCGCTGTCCCGCGTGGCCACAGTGGACTTCACTGAGCTCGAGTGGCACATCTGCTCCAACCGGCAGCTGGTGCCCAGCTACTCGGAGGCCGTGGTCATGGGCGCGGGCTCGGGCGCCTACCTCAGAGGCTGCCAGCGCTGCCGCCGCTCTGTCAGCAGCAACTCGCTGCCCCCCGCCCGGCCCAGCGGGCCCCGCCTGCCCTTCAGCCGCAGCCGCCTCTCGCTGGGCGCTGGCGGCCGGGCCACGCCAGGGGTCTTCCGCAGCCTGAGCGGGGGGCCGCTGGGGCGCCGTGGAGAGGACACGGAACCCCTGGAGAGCCCGCCCTGCTATGAGGACGCCCTCTACTTCCCGGTGCTCATTGTCCACGGAGACAGCGGCTGCCAGGGGGATGGGCAGGGTGCTCTCTGAGACCCCCCACGGCCCCCAGAGTGGCCCCCTCCCCACCATTCCACCATGGGCTTAGATGCCCGAGTGATTGTTGTCCAAAACAGGCGGGAAAACAGACCAGCCACACACAAGGGGCAGGGGTGAGGGTGGGGGTGGGGGTCCTTAAACAGACTAAAATGCAGTTACCTGTGGTCATTTTGGAGGAAGTGGAAGCCTAAGAATCGCCCCCAGCATGGCTTCATCCCCCAAGATGGCCGATGATCTGGCCTGAAGGCCTCTCACAAAGGGCAGGAGAAGAAGCTTCCAGAAAGGCTGGGATGGAGGAGGAGTCCTGCGGCCAGCTGTTGCCTGCAGCAGAGGCTGCCTGTGGACACTTCCCTACCGGGGCTGAGGCCATGCTGGGAGCCCCCCCAGTGACGCAGAAGCACAAATTGGAGGCTTGGGGCCATGCCCAGCCAGGTTGGCTTCCCTGGGGCTGAAGAGCTGGCTGTGGTGGCACCATGGCCTTGGCCCTGCTACTCACCCAACATTCCCATCCTCCCCTGATAGGCCCCTCCTCCTTGCCTGCCCTCTCTCCCGCTGCTCAGGGCCAGTCACTCCCCCCACATGCAGCTACCCCTACAACCTGGGGTTCCTTCTCAGGGCCTCACCTGGTCCCCACATCCCCTGGCCTCTGCTCCTGCCTCCCAAAGTCCATGTCTGCCTCCATCAGCCACACACACGCAGGGACGCCCGTTCCTTGCCCTCCCGGACTTATCTACTCTTCACTTTCCTGATGATCCATGGGGCCCAGGCCTAGAGGGCATCCGAGGGGCTGGGCCTTGGCCACAGCCTCTTGGATGATGTCCTTGCTCCACCACGCAGGCCCTTGCTTCTCCCATCAACGAGTCTTGGCCCAGGGGACACTGACCCTCCCCCAGGGAGGAGAGAGGAGTTCCTTCCCTTTCAACGAGGGCTTCCACGCCCTCTAAGGGGTGGCGGGGAAGGGAGGAGGCTGAGAAGATGCAGATTAAATAAAGGTATGGAATGGAAGGCCTGTGCATTCCTGGGTCATGGGTCTAAGGCCTCCACTGCAAGCATTATGGGCCCCCATGGTTCAGGGCACGATGAGGGGTTCTGGGAAGGGACTCAGAATTGGGCTCCAGTGTTCCCAGGAACCAAGTAAGCAGAGGAGAGGAAACCTCCCCTGCCTAGCCTGGGGCCTCTGAGACTCAAGTGTGAGGCGCTCTGAGCACCTGGCTCCCCTGACTCCGGTATCTGGGCCTGGGTCACTGCTAAGGCATTGTCAAGGTGGCCCTTGTTCCAGCTCAGTGGGACATTCCACTCTGCTGCTGGGCATGCCGAGGGCTAAGGGAGTGGTGGCCGGTCCCCAAAGTGGGGAGAAAGAGCTATGGTCTGTGACTCGAATTCGGTGCCCCCCCAGCGGCTACTGACATTATCAATCTGAGGGAAAGGGCATGAAGCAGGTCAGAAGACACAAAGCTGGAAAGGGCAGCCCCAAACCAGGGCAGGCTGGCATGGAATCCAAAGGCAGAGAAAACATCAGGGAAAAGGAAGGTCCTGACTCCCTGATGGAGCTCTGAAAGATTCCTGGACGTGGCATTGTCACATGTGCAGCAGTAAAGGGTGTTCACTGTGCAAGGGCAGTGGGCTAAGGGGCAAGCGTGCATGGAATCCAGCCTACAGGCCACTCCCCAAACTCTGGCATGGAGCTACATCCACTTGGAGAAAGGGGACCGTTTTCCT
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GAGGCCTGGTAGGTCTGGGGTAGGAGAGGTGGCCCCTTAACCCCCCTTTTGTTGTTTCCACTTTTTTCCTCCCCTTTTTACCCTTCCCCTCGCCCCACTTTATCCCTACCTGCTTCTCTCTCCATGGCACCTGAGGGTGAGGTGGCTAGGCTGGCAGCCCTGCCAGGGAGGGTGTGGCAAGCCCTCTGAGCCAGGGAGTGGCCCCTGCTGCCCAGTAGCTGTGTCCCACCCCCTTGCTCAGCACAGATGGGGAGTGGAGGATGGCCCTCCATCTGCTCCCCACCCCAAGACTCGCACCTCCCCCGTTCTTGAGGCTCCCTCTTTCTCATCAACTCAAAAGCCTCTGCCGAGACTTCTGAGTCCCTATGGAACAAGGGACCAGAGGGAGTCTCAGGGTAATGGTGATCATATTTATTCCCATGGCCAGACCCTGTGCTCACTTCTTCACACATATGATCTTGTTGAATCCTCACAATAGAACCAGTTTACAGATGAGGAAATTGAGGTCCAGAGAGGATGAGGGACCTGCCCAAGTCATACAGTAAGTAGTGGAGCCAGCACTGGCTCCTGGGCAGTGGAACTCCAAAGCCCATGCTGTTTACACCTCAGACCCCTTCCACCCTGGCTTCCCAAACCAACAGGACCAAGAATCAAGGCCCAGAGAGGGCAGAGATATAGCCAAGTCCACACAGCAAATCAGGGCAGAGCCAGGACCAGAACCCACAATAGCCAGTGCAAGGATCCATCCCTCCTGGCTGAGGTGGGCCTGCTGTCTCCTGTGTGCGGTTTGCCGAGTGCTAGCACGGCACAGTGGAGGATGGGTTTGGGGCAGCGAGTCCTGGGTTTGAATATGCAGCGCCACTGTGAGTGAGCTGGAAATGTGAAGCCTGGAGCAAGCTGCTCATCCCTCTAAGCCTCAGTTTCCTCCTCTGTAAAATGGGGCTCACGGTATCACCTTCCTCAGCCGGGTTAAGCAAAGTGGCAGGCCCCACTGATGGCCCCACCTGACACAGACTTCCCTTTCTCTGCCCACCTGCAGCAGCGGCCCCTGAAACAGTCCCTGGGAAGCTCCCTGTGCCGCGAGTCGCACTGGAAGTGCCTGCTCCTCACGCTGCTCATCCACGCCTGCGGGGCCGTGGTGGCCTGGTGTCGCCTGGCCACAGTGCCGCGGCTGGTCCTGGGGCCCGAGGCCGCCTTGGCCCGGGGAGCCGGGGGCCCGCCACCGACCTACCCGGCCAGCCCCTGCTCCGATGGCTACCTGTACATCCCGCTGGCCTTCGTCTCCCTCCTCTACCTCCTCTACCTGGCTGAGTGCTGGCACTGTCACGTGCGGTCCTGCCAGGCGCCACGCACCGACGCCCACACGGTGCTGGCGCTGATCCGCCGGCTGCAGCAGGCGCCGCCGTGCGTCTGGTGGAAGGCCACCAGCTATCACTACGTGCGGCGCACACGCCAGATCACGCGCTACCGCAACGGCGACGCCTACACCACCACGCAGGTGTACCATGAGCGCGCTGACAGCCGCACGGCCCGCGGCGAGTTTGACTACTCGGCGCACGGCGTCCGCGACGTCTCCAAGGAGCTGGTGGGGCTGGCGGAGCACGCGGCCACGCGGCTGCGCTTCACCAAGTGCTTCAGCTTCGGCAGCGCGGAGGCCGAGGCCTCGTACCTCACGCAGCGGGCGCGCTTCTTCAGCGCCAACGAGGGCCTGGACGACTATCTGGAGGCGCGCGAGGGCATGCACCTGAAGGACGTAGACTTCCGCGAGTCGCTCATGGTCTTCGCCGACCCCCGCAGCCCGCCCTGGTACGCGCGCGCCTGGGTCTTCTGGCTCGTGTCGGCGGCCACGCTGTCGTGGCCCCTGCGCGTCGTGGCCGCCTATGGCACGGCTCACGTGCACTACCAGGTGGAGAAGCTCTTTGGCGCCAGCTCGCCCCCGCCGGGGGCCGTGCCCAGCGGGCCCCCGCTGTCCCGCGTGGCCACAGTGGACTTCACTGAGCTCGAGTGGCACATCTGCTCCAACCGGCAGCTGGTGCCCAGCTACTCGGGGGCCGTGGTCATGGGCGCGGGCTCGGGCGCCTACCTCAGAGGCTGCCAGCGCTGCCGCCGCTCTGTCAGCAGCAACTCGCTGCCCCCCGCCCGGCCCAGCGGGCCCCGCCTGCCCTTCAGCCGCAGCCGCCTCTCGCTGGGCGCTGGCGGCCGGGCCACGCCAGGGGTCTTCCGCAGCCTGAGCGGGGGGCCGCTGGGGCGCCGTGGAGAGGACACGGAACCCCTGGAGAGCCCGCCCTGCTATGAGGACGCCCTCTACTTCCCGGTGCTCATTGTCCACGGAGACAGCGGCTGCCAGGGGGATGGGCAGGGTGCTCTCTGAGACCCCCCACGGCCCCCAGAGTGGCCCCCTCCCCACCATTCCACCATGGGCTTAGATGCCCGAGTGATTGTTGTCCAAAACAGGCGGGAAAACAGACCAGCCACACACAAGGGGCAGGGGTGAGGGTGGGGGTGGGGGTCCTTAAACAGACTAAAATGCAGTTACCTGTGGTCATTTTGGAGGAAGTGGAAGCCTAAGAATCGCCCCCAGCATGGCTTCATCCCCCAAGATGGCCGATGATCTGGCCTGAAGGCCTCTCACAAAGGGCAGGAGAAGAAGCTTCCAGAAAGGCTGGGATGGAGGAGGAGTCCTGCGGCCAGCTGTTGCCTGCAGCAGAGGCTGCCTGTGGACACTTCCCTACCGGGGCTGAGGCCATGCTGGGAGCCCCCCCAGTGACGCAGAAGCACAAATTGGAGGCTTGGGGCCATGCCCAGCCAGGTTGGCTTCCCTGGGGCTGAAGAGCTGGCTGTGGTGGCACCATGGCCTTGGCCCTGCTACTCACCCAACATTCCCATCCTCCCCTGATAGGCCCCTCCTCCTTGCCTGCCCTCTCTCCCGCTGCTCAGGGCCAGTCACTCCCCCCACATGCAGCTACCCCTACAACCTGGGGTTCCTTCTCAGGGCCTCACCTGGTCCCCACATCCCCTGGCCTCTGCTCCTGCCTCCCAAAGTCCATGTCTGCCTCCATCAGCCACACACACGCAGGGACGCCCGTTCCTTGCCCTCCCGGACTTATCTACTCTTCACTTTCCTGATGATCCATGGGGCCCAGGCCTAGAGGGCATCCGAGGGGCTGGGCCTTGGCCACAGCCTCTTGGATGATGTCCTTGCTCCACCACGCAGGCCCTTGCTTCTCCCATCAACGAGTCTTGGCCCAGGGGACACTGACCCTCCCCCAGGGAGGAGAGAGGAGTTCCTTCCCTTTCAACGAGGGCTTCCACGCCCTCTAAGGGGTGGCGGGGAAGGGAGGAGGCTGAGAAGATGCAGATTAAATAAAGGTATGGAATGGAAGGCCTGTGCATTCCTGGGTCATGGGTCTAAGGCCTCCACTGCAAGCATTATGGGCCCCCATGGTTCAGGGCACGATGAGGGGTTCTGGGAAGGGACTCAGAATTGGGCTCCAGTGTTCCCAGGAACCAAGTAAGCAGAGGAGAGGAAACCTCCCCTGCCTAGCCTGGGGCCTCTGAGACTCAAGTGTGAGGCGCTCTGAGCACCTGGCTCCCCTGACTCCGGTATCTGGGCCTGGGTCACTGCTAAGGCATTGTCAAGGTGGCCCTTGTTCCAGCTCAGTGGGACATTCCACTCTGCTGCTGGGCATGCCGAGGGCTAAGGGAGTGGTGGCCGGTCCCCAAAGTGGGGAGAAAGAGCTATGGTCTGTGACTCGAATTCGGTGCCCCCCCAGCGGCTACTGACATTATCAATCTGAGGGAAAGGGCATGAAGCAGGTCAGAAGACACAAAGCTGGAAAGGGCAGCCCCAAACCAGGGCAGGCTGGCATGGAATCCAAAGGCAGAGAAAACATCAGGGAAAAGGAAGGTCCTGACTCCCTGATGGAGCTCTGAAAGATTCCTGGACGTGGCATTGTCACATGTGCAGCAGTAAAGGGTGTTCACTGTGCAAGGGCAGTGGGCTAAGGGGCAAGCGTGCATGGAATCCAGCCTACAGGCCACTCCCCAAACTCTGGCATGGAGCTACATCCACTTGGAGAAAGGGGACCGTTTTCCT
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Task1_train_16113
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The gene BBS1 (Bardet-Biedl syndrome 1) on Chromosome 11 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Bardet-Biedl syndrome
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ACCCGGGTTCAAGCAATTCTCCAGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCTCATGCCACCACGCCCAGCTAATTTTTTTGTATGTTTAGTATAAACAGTGTTTCATCATGTTGGCCAAGCTGGTCTCAAACTCCTGACCTCAGGTGATCCTCCCACCTCAGCCTACCAAGGTGCTAGGATTACAGGCATGAGCCACCATGCCCAGCCTAAATCTTTATTTGATTGACTGAATGAACGAAAGCAGCAATGCATTTAATACTCCCCCTGTAGTATTTCCTTCCTCACAGGGTTACTGTAAAGAGTAAATTAAGTAATTAACCTAAAACGTAGAGCACAGGTTTTTTTGGCAGAGCTCAGTAAGAAACAGCTGCTGCTGTAATTGTGATTATTAAGATTTTTATGATGATTCAGTTTCCCTATTCAGACCTTTCCCTGCTGTTTTCTCTCCATCTCCTCCCCAGGCTCAGACGTGCAGCTTCTGGAATACGAGGCGTCAGCTGCTGGCCTCATCCGATCCTTCTCTGAGCGTTTCCCAGAGGATGGACCCGAGTTGGAGGAGATCCTCACACAGCTGGCCACAGCCGATGCCCGATTCTGGAAGGGCCCCAGTGAGGCCCCATCTGGCCAAGCTTGAGGAAGATGTGTGGCCTTGCCCCCAATTCCATCAGACCAAGGCTGCAAGTGGCCCTCCATTCGTGTGTGTATTTAGGGGCTGGGGAGGGGGAGGGGCAGGAGCTTGGACCTTGGTACTACCTCAGCTGAGGGTGGTGACACAACCCCTTCCATTTGTCAGCACTTTCCAGCCTGCCAATTGCTTCCCCTCTGTGATCTCATTTCATCTGCACTGCCATACGTGGAGTGAGCAAGACAGGGCTTACCATCCTGTCTACCAGATGAGGAAATGGCAGTTCTGAGAAGTCACTGGTCTAGATCCCGCAGGTGGCACGTGACAGCTAGGGTTCAAAACGTTCTCACCAAATCCAATGCTCCTCACATATTAATTTTATAACCAGACAAATAAATATTAGAGACAACCACCATCTTTGCGGCGTGTGTGGCTCCTCCTTGCCTTTGCCTGTCTTCTCATTTACTCCCAGCAGAGTGATGGGCTCAAGGCCTGGGGAGGGGGCAAGGAGGGCCATTTTTAGCCTCCCTTCCACAACAGGATGTTGACATTATCTCTAGATGAGGATACGCAGTCACAGAGCTGAACATAGCACAATTTTTGCAGCTCTCCTTTGTGGCATTCCTTGCATTTTTAAATGTTCTGGGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGGGGATCACGAGGTCAGGAGTTCGAGACCGGCTTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAAATAAAGTAGCTGGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCCCTGGAACCCGGGAGGCGGAGGTTGCGGTGAGCCGAAATCGCGCTACTGCGCTCCAGCGCAAGCGACAGAGCGAGACTACGTCTCAAAAAAAAAAAAAAAAAAAAAAAGTTCTGGGAACCTACAAACTCAACTTCAGTCAGAATCCTCTGCATTTGTCCCATAACCCTCGTGTTTTGTTTCTCTGGGCCTGGACCTCTACAGTAACGCAGCAAGGCAGGACATGGTCCTTTTCAACCGGGTAACCATGAAGATGGAGACAGGAGGAGTTCTTTTTGCTGCTCATAAATGCTAGAAGGGGCTTCTTTCCAACCCTGGAAGCCAGAGGGCTCTGTGGCTGACCCAGAGATTGTAGGACCCAGACGCCTGGAAAGGTGGCTCTGACTGGGAAGGAGCAAAGATAAATATCTTTGAGGAATCTGAGACAGATTCCTCAACCCAGGAAGGTGGCCAGCGCGTCCTCCTGAGCCTGGGTGGGAAAGCTTGGCGCCCGGAACCTTTGTACTCGCCCTTCCCTGTGCTCGGGCACTATTGGGCGTTACGCGAGGGCGGGGCCGGTTGCCAGGACGACGCCTGCGAAGATGGCCGCTGCGTCCTCATCGGATTCCGACGCCTGCGGAGCTGAGAGGTGAAGGCAGGGCTCCTCAAGGCCTCTTTTCCCACCCGTGTAAAGAGGGTCCCTTGGTCCCCGGGCTCTGGGCTCCTGCTGTTCTCGGGCAGTCTGGAAGGACTCTTAAGAGGTCAGATAGGGAAACCGAGGCCTAAGATGTGCATATGTGTGTCTGGAGGTCGCTCGGTGAGCCAGTGGCGGAGCCTGGACTTGTACCCAGACGTTCTGTACCTTATGTTCAGAGTGACCTGTACCAGCTTCCTCAAAGTTTTTTTTTCCCCTCCCATGGGACTCACTCCCCAACTGTCTTTCCCCCACTTCCAGCAATGAGGCCAATTCGAAGTGGTTGGATGCGCACTACGACCCAATGGCCAATATCCACACCTTTTCTGCCTGCCTAGGTGAGTCTCTGGAACCAGGAACCCTGGGTTCTAGTGGGATGGGGAGTCAGACAATGGTCCTGTAGTGAAGCCTCTGGGATTCTGAGACTCTGGTTTTGGCCCTTTTGTTTTCCAGCGCTGGCAGATTTACATGGGGATGGGGAATACAAGGTAAGCATATCACCCTAGCCAGGAGAGTTGAGGGTAGGGGGGTGTACCCAGAAATGAGATTTCCTGACGGCTGAAAATAGGCCCAGCATACTCTGGAATTCACATATACTGTGAAAAAGCACATTTAGCGTTAAATTTTGTTTTTATATGGAAAGTGAAGAGAACTTATTGATTTCATAATACAGACTGCAGAAAGTAAAGCAGATCAAATATTTCTGGGGATTCTACTAAGACAAAGCCTCTTAGTTAACCTGATTTCTTTGTTGGAAGGGCAAATCCCTTGGTTGGGGGTGGGCACTAGAATCTGGAGGGAAAGTAAAAAGGAGGGAAGTGAACGTTTGATGTTTATCAAAAGATTTTAAGATGGGCCATGAGCTGTCAATTTTTGAAGCTGGATAATGGGATATATGGGGACTCATTATATGAGTCTCTCTACTTTTGTATGTGAATGAAAATTTTCCATAGTAAAAATGTTACATTTTAAATTTAATTTTAAGGCCAGCAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCGCTTGAGCTTAGGCATTCGAGACCAGCCTGTCCAACATGGTGAAACACCATCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGATGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGGTCAAACCCAGGAGGCGGAGGTTGAGTGAGCTGAGACCATGCCACTACACTCCAGCCTGGATGACAGAGTGAGACAGTTTCAAAAAAAAATATATATATATATATGTGTATATATATGTATATATATGTATATATATGTGTATATATATGTATATATATATACATATATTTAATTTTAAATAAAAATGTAAATTTAAAAAGATACAAGTTTTTTAAAGGTAGAGAAATATATTGGGATAAAAGAAAGGAAGTTAGCATGGATTCAGTATCCATTTCTGGACTAGACATTCCATGGAGGCACATAAACATGGATTTTATTTATTCCCATTTTGTGAATGGGAAAATAGTTTCAAAGAGGTGAAGTTTACTGAATTTGTAACTGGGTCTGTTTGATTCCAAGTTTTGTGCTTTTTCTACCAAAGCTCAGCCCTCACCATGGGCAACAACACCACAATGGATATATCATGTGGGTGGCTAGAAGATAGTCCTGGAATCCCACCCCACACAGAGAGTGCAATAGGACTCAGTGGTTTTTGCCCCCAAATTCCTATCCATAATGTATTCAGTAATTCAGCAAGTGTATAGTGAGTCCCTACTGTGTGTCAGGCATCATGGGGACACTACACTCAGAAATGCATCAGCATGTGGTCAGGAGGAGATACACTGTCGACAATTATTCCATGATATTGATTGAATACCTAGTTTGTATTTGGCTCTGGGCTTACAATAGTGAGGGAAGAGAAACCACAGACACAGTAGCTAATAAGAAATGTTAGCCAGGCACAGTGGCTCA
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ACCCGGGTTCAAGCAATTCTCCAGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCTCATGCCACCACGCCCAGCTAATTTTTTTGTATGTTTAGTATAAACAGTGTTTCATCATGTTGGCCAAGCTGGTCTCAAACTCCTGACCTCAGGTGATCCTCCCACCTCAGCCTACCAAGGTGCTAGGATTACAGGCATGAGCCACCATGCCCAGCCTAAATCTTTATTTGATTGACTGAATGAACGAAAGCAGCAATGCATTTAATACTCCCCCTGTAGTATTTCCTTCCTCACAGGGTTACTGTAAAGAGTAAATTAAGTAATTAACCTAAAACGTAGAGCACAGGTTTTTTTGGCAGAGCTCAGTAAGAAACAGCTGCTGCTGTAATTGTGATTATTAAGATTTTTATGATGATTCAGTTTCCCTATTCAGACCTTTCCCTGCTGTTTTCTCTCCATCTCCTCCCCAGGCTCAGACGTGCAGCTTCTGGAATACGAGGCGTCAGCTGCTGGCCTCATCCGATCCTTCTCTGAGCGTTTCCCAGAGGATGGACCCGAGTTGGAGGAGATCCTCACACAGCTGGCCACAGCCGATGCCCGATTCTGGAAGGGCCCCAGTGAGGCCCCATCTGGCCAAGCTTGAGGAAGATGTGTGGCCTTGCCCCCAATTCCATCAGACCAAGGCTGCAAGTGGCCCTCCATTCGTGTGTGTATTTAGGGGCTGGGGAGGGGGAGGGGCAGGAGCTTGGACCTTGGTACTACCTCAGCTGAGGGTGGTGACACAACCCCTTCCATTTGTCAGCACTTTCCAGCCTGCCAATTGCTTCCCCTCTGTGATCTCATTTCATCTGCACTGCCATACGTGGAGTGAGCAAGACAGGGCTTACCATCCTGTCTACCAGATGAGGAAATGGCAGTTCTGAGAAGTCACTGGTCTAGATCCCGCAGGTGGCACGTGACAGCTAGGGTTCAAAACGTTCTCACCAAATCCAATGCTCCTCACATATTAATTTTATAACCAGACAAATAAATATTAGAGACAACCACCATCTTTGCGGCGTGTGTGGCTCCTCCTTGCCTTTGCCTGTCTTCTCATTTACTCCCAGCAGAGTGATGGGCTCAAGGCCTGGGGAGGGGGCAAGGAGGGCCATTTTTAGCCTCCCTTCCACAACAGGATGTTGACATTATCTCTAGATGAGGATACGCAGTCACAGAGCTGAACATAGCACAATTTTTGCAGCTCTCCTTTGTGGCATTCCTTGCATTTTTAAATGTTCTGGGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGGGGATCACGAGGTCAGGAGTTCGAGACCGGCTTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAAATAAAGTAGCTGGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCCCTGGAACCCGGGAGGCGGAGGTTGCGGTGAGCCGAAATCGCGCTACTGCGCTCCAGCGCAAGCGACAGAGCGAGACTACGTCTCAAAAAAAAAAAAAAAAAAAAAAAGTTCTGGGAACCTACAAACTCAACTTCAGTCAGAATCCTCTGCATTTGTCCCATAACCCTCGTGTTTTGTTTCTCTGGGCCTGGACCTCTACAGTAACGCAGCAAGGCAGGACATGGTCCTTTTCAACCGGGTAACCATGAAGATGGAGACAGGAGGAGTTCTTTTTGCTGCTCATAAATGCTAGAAGGGGCTTCTTTCCAACCCTGGAAGCCAGAGGGCTCTGTGGCTGACCCAGAGATTGTAGGACCCAGACGCCTGGAAAGGTGGCTCTGACTGGGAAGGAGCAAAGATAAATATCTTTGAGGAATCTGAGACAGATTCCTCAACCCAGGAAGGTGGCCAGCGCGTCCTCCTGAGCCTGGGTGGGAAAGCTTGGCGCCCGGAACCTTTGTACTCGCCCTTCCCTGTGCTCGGGCACTATTGGGCGTTACGCGAGGGCGGGGCCGGTTGCCAGGACGACGCCTGCGAAGGTGGCCGCTGCGTCCTCATCGGATTCCGACGCCTGCGGAGCTGAGAGGTGAAGGCAGGGCTCCTCAAGGCCTCTTTTCCCACCCGTGTAAAGAGGGTCCCTTGGTCCCCGGGCTCTGGGCTCCTGCTGTTCTCGGGCAGTCTGGAAGGACTCTTAAGAGGTCAGATAGGGAAACCGAGGCCTAAGATGTGCATATGTGTGTCTGGAGGTCGCTCGGTGAGCCAGTGGCGGAGCCTGGACTTGTACCCAGACGTTCTGTACCTTATGTTCAGAGTGACCTGTACCAGCTTCCTCAAAGTTTTTTTTTCCCCTCCCATGGGACTCACTCCCCAACTGTCTTTCCCCCACTTCCAGCAATGAGGCCAATTCGAAGTGGTTGGATGCGCACTACGACCCAATGGCCAATATCCACACCTTTTCTGCCTGCCTAGGTGAGTCTCTGGAACCAGGAACCCTGGGTTCTAGTGGGATGGGGAGTCAGACAATGGTCCTGTAGTGAAGCCTCTGGGATTCTGAGACTCTGGTTTTGGCCCTTTTGTTTTCCAGCGCTGGCAGATTTACATGGGGATGGGGAATACAAGGTAAGCATATCACCCTAGCCAGGAGAGTTGAGGGTAGGGGGGTGTACCCAGAAATGAGATTTCCTGACGGCTGAAAATAGGCCCAGCATACTCTGGAATTCACATATACTGTGAAAAAGCACATTTAGCGTTAAATTTTGTTTTTATATGGAAAGTGAAGAGAACTTATTGATTTCATAATACAGACTGCAGAAAGTAAAGCAGATCAAATATTTCTGGGGATTCTACTAAGACAAAGCCTCTTAGTTAACCTGATTTCTTTGTTGGAAGGGCAAATCCCTTGGTTGGGGGTGGGCACTAGAATCTGGAGGGAAAGTAAAAAGGAGGGAAGTGAACGTTTGATGTTTATCAAAAGATTTTAAGATGGGCCATGAGCTGTCAATTTTTGAAGCTGGATAATGGGATATATGGGGACTCATTATATGAGTCTCTCTACTTTTGTATGTGAATGAAAATTTTCCATAGTAAAAATGTTACATTTTAAATTTAATTTTAAGGCCAGCAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCGCTTGAGCTTAGGCATTCGAGACCAGCCTGTCCAACATGGTGAAACACCATCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGATGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGGTCAAACCCAGGAGGCGGAGGTTGAGTGAGCTGAGACCATGCCACTACACTCCAGCCTGGATGACAGAGTGAGACAGTTTCAAAAAAAAATATATATATATATATGTGTATATATATGTATATATATGTATATATATGTGTATATATATGTATATATATATACATATATTTAATTTTAAATAAAAATGTAAATTTAAAAAGATACAAGTTTTTTAAAGGTAGAGAAATATATTGGGATAAAAGAAAGGAAGTTAGCATGGATTCAGTATCCATTTCTGGACTAGACATTCCATGGAGGCACATAAACATGGATTTTATTTATTCCCATTTTGTGAATGGGAAAATAGTTTCAAAGAGGTGAAGTTTACTGAATTTGTAACTGGGTCTGTTTGATTCCAAGTTTTGTGCTTTTTCTACCAAAGCTCAGCCCTCACCATGGGCAACAACACCACAATGGATATATCATGTGGGTGGCTAGAAGATAGTCCTGGAATCCCACCCCACACAGAGAGTGCAATAGGACTCAGTGGTTTTTGCCCCCAAATTCCTATCCATAATGTATTCAGTAATTCAGCAAGTGTATAGTGAGTCCCTACTGTGTGTCAGGCATCATGGGGACACTACACTCAGAAATGCATCAGCATGTGGTCAGGAGGAGATACACTGTCGACAATTATTCCATGATATTGATTGAATACCTAGTTTGTATTTGGCTCTGGGCTTACAATAGTGAGGGAAGAGAAACCACAGACACAGTAGCTAATAAGAAATGTTAGCCAGGCACAGTGGCTCA
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Task1_train_16114
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This variant affects the gene BBS1 (Bardet-Biedl syndrome 1) found on Chromosome 11. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Bardet-Biedl syndrome 1
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ACCCGGGTTCAAGCAATTCTCCAGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCTCATGCCACCACGCCCAGCTAATTTTTTTGTATGTTTAGTATAAACAGTGTTTCATCATGTTGGCCAAGCTGGTCTCAAACTCCTGACCTCAGGTGATCCTCCCACCTCAGCCTACCAAGGTGCTAGGATTACAGGCATGAGCCACCATGCCCAGCCTAAATCTTTATTTGATTGACTGAATGAACGAAAGCAGCAATGCATTTAATACTCCCCCTGTAGTATTTCCTTCCTCACAGGGTTACTGTAAAGAGTAAATTAAGTAATTAACCTAAAACGTAGAGCACAGGTTTTTTTGGCAGAGCTCAGTAAGAAACAGCTGCTGCTGTAATTGTGATTATTAAGATTTTTATGATGATTCAGTTTCCCTATTCAGACCTTTCCCTGCTGTTTTCTCTCCATCTCCTCCCCAGGCTCAGACGTGCAGCTTCTGGAATACGAGGCGTCAGCTGCTGGCCTCATCCGATCCTTCTCTGAGCGTTTCCCAGAGGATGGACCCGAGTTGGAGGAGATCCTCACACAGCTGGCCACAGCCGATGCCCGATTCTGGAAGGGCCCCAGTGAGGCCCCATCTGGCCAAGCTTGAGGAAGATGTGTGGCCTTGCCCCCAATTCCATCAGACCAAGGCTGCAAGTGGCCCTCCATTCGTGTGTGTATTTAGGGGCTGGGGAGGGGGAGGGGCAGGAGCTTGGACCTTGGTACTACCTCAGCTGAGGGTGGTGACACAACCCCTTCCATTTGTCAGCACTTTCCAGCCTGCCAATTGCTTCCCCTCTGTGATCTCATTTCATCTGCACTGCCATACGTGGAGTGAGCAAGACAGGGCTTACCATCCTGTCTACCAGATGAGGAAATGGCAGTTCTGAGAAGTCACTGGTCTAGATCCCGCAGGTGGCACGTGACAGCTAGGGTTCAAAACGTTCTCACCAAATCCAATGCTCCTCACATATTAATTTTATAACCAGACAAATAAATATTAGAGACAACCACCATCTTTGCGGCGTGTGTGGCTCCTCCTTGCCTTTGCCTGTCTTCTCATTTACTCCCAGCAGAGTGATGGGCTCAAGGCCTGGGGAGGGGGCAAGGAGGGCCATTTTTAGCCTCCCTTCCACAACAGGATGTTGACATTATCTCTAGATGAGGATACGCAGTCACAGAGCTGAACATAGCACAATTTTTGCAGCTCTCCTTTGTGGCATTCCTTGCATTTTTAAATGTTCTGGGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGGGGATCACGAGGTCAGGAGTTCGAGACCGGCTTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAAATAAAGTAGCTGGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCCCTGGAACCCGGGAGGCGGAGGTTGCGGTGAGCCGAAATCGCGCTACTGCGCTCCAGCGCAAGCGACAGAGCGAGACTACGTCTCAAAAAAAAAAAAAAAAAAAAAAAGTTCTGGGAACCTACAAACTCAACTTCAGTCAGAATCCTCTGCATTTGTCCCATAACCCTCGTGTTTTGTTTCTCTGGGCCTGGACCTCTACAGTAACGCAGCAAGGCAGGACATGGTCCTTTTCAACCGGGTAACCATGAAGATGGAGACAGGAGGAGTTCTTTTTGCTGCTCATAAATGCTAGAAGGGGCTTCTTTCCAACCCTGGAAGCCAGAGGGCTCTGTGGCTGACCCAGAGATTGTAGGACCCAGACGCCTGGAAAGGTGGCTCTGACTGGGAAGGAGCAAAGATAAATATCTTTGAGGAATCTGAGACAGATTCCTCAACCCAGGAAGGTGGCCAGCGCGTCCTCCTGAGCCTGGGTGGGAAAGCTTGGCGCCCGGAACCTTTGTACTCGCCCTTCCCTGTGCTCGGGCACTATTGGGCGTTACGCGAGGGCGGGGCCGGTTGCCAGGACGACGCCTGCGAAGATGGCCGCTGCGTCCTCATCGGATTCCGACGCCTGCGGAGCTGAGAGGTGAAGGCAGGGCTCCTCAAGGCCTCTTTTCCCACCCGTGTAAAGAGGGTCCCTTGGTCCCCGGGCTCTGGGCTCCTGCTGTTCTCGGGCAGTCTGGAAGGACTCTTAAGAGGTCAGATAGGGAAACCGAGGCCTAAGATGTGCATATGTGTGTCTGGAGGTCGCTCGGTGAGCCAGTGGCGGAGCCTGGACTTGTACCCAGACGTTCTGTACCTTATGTTCAGAGTGACCTGTACCAGCTTCCTCAAAGTTTTTTTTTCCCCTCCCATGGGACTCACTCCCCAACTGTCTTTCCCCCACTTCCAGCAATGAGGCCAATTCGAAGTGGTTGGATGCGCACTACGACCCAATGGCCAATATCCACACCTTTTCTGCCTGCCTAGGTGAGTCTCTGGAACCAGGAACCCTGGGTTCTAGTGGGATGGGGAGTCAGACAATGGTCCTGTAGTGAAGCCTCTGGGATTCTGAGACTCTGGTTTTGGCCCTTTTGTTTTCCAGCGCTGGCAGATTTACATGGGGATGGGGAATACAAGGTAAGCATATCACCCTAGCCAGGAGAGTTGAGGGTAGGGGGGTGTACCCAGAAATGAGATTTCCTGACGGCTGAAAATAGGCCCAGCATACTCTGGAATTCACATATACTGTGAAAAAGCACATTTAGCGTTAAATTTTGTTTTTATATGGAAAGTGAAGAGAACTTATTGATTTCATAATACAGACTGCAGAAAGTAAAGCAGATCAAATATTTCTGGGGATTCTACTAAGACAAAGCCTCTTAGTTAACCTGATTTCTTTGTTGGAAGGGCAAATCCCTTGGTTGGGGGTGGGCACTAGAATCTGGAGGGAAAGTAAAAAGGAGGGAAGTGAACGTTTGATGTTTATCAAAAGATTTTAAGATGGGCCATGAGCTGTCAATTTTTGAAGCTGGATAATGGGATATATGGGGACTCATTATATGAGTCTCTCTACTTTTGTATGTGAATGAAAATTTTCCATAGTAAAAATGTTACATTTTAAATTTAATTTTAAGGCCAGCAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCGCTTGAGCTTAGGCATTCGAGACCAGCCTGTCCAACATGGTGAAACACCATCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGATGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGGTCAAACCCAGGAGGCGGAGGTTGAGTGAGCTGAGACCATGCCACTACACTCCAGCCTGGATGACAGAGTGAGACAGTTTCAAAAAAAAATATATATATATATATGTGTATATATATGTATATATATGTATATATATGTGTATATATATGTATATATATATACATATATTTAATTTTAAATAAAAATGTAAATTTAAAAAGATACAAGTTTTTTAAAGGTAGAGAAATATATTGGGATAAAAGAAAGGAAGTTAGCATGGATTCAGTATCCATTTCTGGACTAGACATTCCATGGAGGCACATAAACATGGATTTTATTTATTCCCATTTTGTGAATGGGAAAATAGTTTCAAAGAGGTGAAGTTTACTGAATTTGTAACTGGGTCTGTTTGATTCCAAGTTTTGTGCTTTTTCTACCAAAGCTCAGCCCTCACCATGGGCAACAACACCACAATGGATATATCATGTGGGTGGCTAGAAGATAGTCCTGGAATCCCACCCCACACAGAGAGTGCAATAGGACTCAGTGGTTTTTGCCCCCAAATTCCTATCCATAATGTATTCAGTAATTCAGCAAGTGTATAGTGAGTCCCTACTGTGTGTCAGGCATCATGGGGACACTACACTCAGAAATGCATCAGCATGTGGTCAGGAGGAGATACACTGTCGACAATTATTCCATGATATTGATTGAATACCTAGTTTGTATTTGGCTCTGGGCTTACAATAGTGAGGGAAGAGAAACCACAGACACAGTAGCTAATAAGAAATGTTAGCCAGGCACAGTGGCTCA
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ACCCGGGTTCAAGCAATTCTCCAGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCTCATGCCACCACGCCCAGCTAATTTTTTTGTATGTTTAGTATAAACAGTGTTTCATCATGTTGGCCAAGCTGGTCTCAAACTCCTGACCTCAGGTGATCCTCCCACCTCAGCCTACCAAGGTGCTAGGATTACAGGCATGAGCCACCATGCCCAGCCTAAATCTTTATTTGATTGACTGAATGAACGAAAGCAGCAATGCATTTAATACTCCCCCTGTAGTATTTCCTTCCTCACAGGGTTACTGTAAAGAGTAAATTAAGTAATTAACCTAAAACGTAGAGCACAGGTTTTTTTGGCAGAGCTCAGTAAGAAACAGCTGCTGCTGTAATTGTGATTATTAAGATTTTTATGATGATTCAGTTTCCCTATTCAGACCTTTCCCTGCTGTTTTCTCTCCATCTCCTCCCCAGGCTCAGACGTGCAGCTTCTGGAATACGAGGCGTCAGCTGCTGGCCTCATCCGATCCTTCTCTGAGCGTTTCCCAGAGGATGGACCCGAGTTGGAGGAGATCCTCACACAGCTGGCCACAGCCGATGCCCGATTCTGGAAGGGCCCCAGTGAGGCCCCATCTGGCCAAGCTTGAGGAAGATGTGTGGCCTTGCCCCCAATTCCATCAGACCAAGGCTGCAAGTGGCCCTCCATTCGTGTGTGTATTTAGGGGCTGGGGAGGGGGAGGGGCAGGAGCTTGGACCTTGGTACTACCTCAGCTGAGGGTGGTGACACAACCCCTTCCATTTGTCAGCACTTTCCAGCCTGCCAATTGCTTCCCCTCTGTGATCTCATTTCATCTGCACTGCCATACGTGGAGTGAGCAAGACAGGGCTTACCATCCTGTCTACCAGATGAGGAAATGGCAGTTCTGAGAAGTCACTGGTCTAGATCCCGCAGGTGGCACGTGACAGCTAGGGTTCAAAACGTTCTCACCAAATCCAATGCTCCTCACATATTAATTTTATAACCAGACAAATAAATATTAGAGACAACCACCATCTTTGCGGCGTGTGTGGCTCCTCCTTGCCTTTGCCTGTCTTCTCATTTACTCCCAGCAGAGTGATGGGCTCAAGGCCTGGGGAGGGGGCAAGGAGGGCCATTTTTAGCCTCCCTTCCACAACAGGATGTTGACATTATCTCTAGATGAGGATACGCAGTCACAGAGCTGAACATAGCACAATTTTTGCAGCTCTCCTTTGTGGCATTCCTTGCATTTTTAAATGTTCTGGGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGGGGATCACGAGGTCAGGAGTTCGAGACCGGCTTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAAATAAAGTAGCTGGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCCCTGGAACCCGGGAGGCGGAGGTTGCGGTGAGCCGAAATCGCGCTACTGCGCTCCAGCGCAAGCGACAGAGCGAGACTACGTCTCAAAAAAAAAAAAAAAAAAAAAAAGTTCTGGGAACCTACAAACTCAACTTCAGTCAGAATCCTCTGCATTTGTCCCATAACCCTCGTGTTTTGTTTCTCTGGGCCTGGACCTCTACAGTAACGCAGCAAGGCAGGACATGGTCCTTTTCAACCGGGTAACCATGAAGATGGAGACAGGAGGAGTTCTTTTTGCTGCTCATAAATGCTAGAAGGGGCTTCTTTCCAACCCTGGAAGCCAGAGGGCTCTGTGGCTGACCCAGAGATTGTAGGACCCAGACGCCTGGAAAGGTGGCTCTGACTGGGAAGGAGCAAAGATAAATATCTTTGAGGAATCTGAGACAGATTCCTCAACCCAGGAAGGTGGCCAGCGCGTCCTCCTGAGCCTGGGTGGGAAAGCTTGGCGCCCGGAACCTTTGTACTCGCCCTTCCCTGTGCTCGGGCACTATTGGGCGTTACGCGAGGGCGGGGCCGGTTGCCAGGACGACGCCTGCGAAGGTGGCCGCTGCGTCCTCATCGGATTCCGACGCCTGCGGAGCTGAGAGGTGAAGGCAGGGCTCCTCAAGGCCTCTTTTCCCACCCGTGTAAAGAGGGTCCCTTGGTCCCCGGGCTCTGGGCTCCTGCTGTTCTCGGGCAGTCTGGAAGGACTCTTAAGAGGTCAGATAGGGAAACCGAGGCCTAAGATGTGCATATGTGTGTCTGGAGGTCGCTCGGTGAGCCAGTGGCGGAGCCTGGACTTGTACCCAGACGTTCTGTACCTTATGTTCAGAGTGACCTGTACCAGCTTCCTCAAAGTTTTTTTTTCCCCTCCCATGGGACTCACTCCCCAACTGTCTTTCCCCCACTTCCAGCAATGAGGCCAATTCGAAGTGGTTGGATGCGCACTACGACCCAATGGCCAATATCCACACCTTTTCTGCCTGCCTAGGTGAGTCTCTGGAACCAGGAACCCTGGGTTCTAGTGGGATGGGGAGTCAGACAATGGTCCTGTAGTGAAGCCTCTGGGATTCTGAGACTCTGGTTTTGGCCCTTTTGTTTTCCAGCGCTGGCAGATTTACATGGGGATGGGGAATACAAGGTAAGCATATCACCCTAGCCAGGAGAGTTGAGGGTAGGGGGGTGTACCCAGAAATGAGATTTCCTGACGGCTGAAAATAGGCCCAGCATACTCTGGAATTCACATATACTGTGAAAAAGCACATTTAGCGTTAAATTTTGTTTTTATATGGAAAGTGAAGAGAACTTATTGATTTCATAATACAGACTGCAGAAAGTAAAGCAGATCAAATATTTCTGGGGATTCTACTAAGACAAAGCCTCTTAGTTAACCTGATTTCTTTGTTGGAAGGGCAAATCCCTTGGTTGGGGGTGGGCACTAGAATCTGGAGGGAAAGTAAAAAGGAGGGAAGTGAACGTTTGATGTTTATCAAAAGATTTTAAGATGGGCCATGAGCTGTCAATTTTTGAAGCTGGATAATGGGATATATGGGGACTCATTATATGAGTCTCTCTACTTTTGTATGTGAATGAAAATTTTCCATAGTAAAAATGTTACATTTTAAATTTAATTTTAAGGCCAGCAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCGCTTGAGCTTAGGCATTCGAGACCAGCCTGTCCAACATGGTGAAACACCATCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGATGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGGTCAAACCCAGGAGGCGGAGGTTGAGTGAGCTGAGACCATGCCACTACACTCCAGCCTGGATGACAGAGTGAGACAGTTTCAAAAAAAAATATATATATATATATGTGTATATATATGTATATATATGTATATATATGTGTATATATATGTATATATATATACATATATTTAATTTTAAATAAAAATGTAAATTTAAAAAGATACAAGTTTTTTAAAGGTAGAGAAATATATTGGGATAAAAGAAAGGAAGTTAGCATGGATTCAGTATCCATTTCTGGACTAGACATTCCATGGAGGCACATAAACATGGATTTTATTTATTCCCATTTTGTGAATGGGAAAATAGTTTCAAAGAGGTGAAGTTTACTGAATTTGTAACTGGGTCTGTTTGATTCCAAGTTTTGTGCTTTTTCTACCAAAGCTCAGCCCTCACCATGGGCAACAACACCACAATGGATATATCATGTGGGTGGCTAGAAGATAGTCCTGGAATCCCACCCCACACAGAGAGTGCAATAGGACTCAGTGGTTTTTGCCCCCAAATTCCTATCCATAATGTATTCAGTAATTCAGCAAGTGTATAGTGAGTCCCTACTGTGTGTCAGGCATCATGGGGACACTACACTCAGAAATGCATCAGCATGTGGTCAGGAGGAGATACACTGTCGACAATTATTCCATGATATTGATTGAATACCTAGTTTGTATTTGGCTCTGGGCTTACAATAGTGAGGGAAGAGAAACCACAGACACAGTAGCTAATAAGAAATGTTAGCCAGGCACAGTGGCTCA
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Task1_train_16115
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This sequence variant lies in BBS1 (Bardet-Biedl syndrome 1) on Chromosome 11. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Bardet-Biedl syndrome
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CCCGGGTTCAAGCAATTCTCCAGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCTCATGCCACCACGCCCAGCTAATTTTTTTGTATGTTTAGTATAAACAGTGTTTCATCATGTTGGCCAAGCTGGTCTCAAACTCCTGACCTCAGGTGATCCTCCCACCTCAGCCTACCAAGGTGCTAGGATTACAGGCATGAGCCACCATGCCCAGCCTAAATCTTTATTTGATTGACTGAATGAACGAAAGCAGCAATGCATTTAATACTCCCCCTGTAGTATTTCCTTCCTCACAGGGTTACTGTAAAGAGTAAATTAAGTAATTAACCTAAAACGTAGAGCACAGGTTTTTTTGGCAGAGCTCAGTAAGAAACAGCTGCTGCTGTAATTGTGATTATTAAGATTTTTATGATGATTCAGTTTCCCTATTCAGACCTTTCCCTGCTGTTTTCTCTCCATCTCCTCCCCAGGCTCAGACGTGCAGCTTCTGGAATACGAGGCGTCAGCTGCTGGCCTCATCCGATCCTTCTCTGAGCGTTTCCCAGAGGATGGACCCGAGTTGGAGGAGATCCTCACACAGCTGGCCACAGCCGATGCCCGATTCTGGAAGGGCCCCAGTGAGGCCCCATCTGGCCAAGCTTGAGGAAGATGTGTGGCCTTGCCCCCAATTCCATCAGACCAAGGCTGCAAGTGGCCCTCCATTCGTGTGTGTATTTAGGGGCTGGGGAGGGGGAGGGGCAGGAGCTTGGACCTTGGTACTACCTCAGCTGAGGGTGGTGACACAACCCCTTCCATTTGTCAGCACTTTCCAGCCTGCCAATTGCTTCCCCTCTGTGATCTCATTTCATCTGCACTGCCATACGTGGAGTGAGCAAGACAGGGCTTACCATCCTGTCTACCAGATGAGGAAATGGCAGTTCTGAGAAGTCACTGGTCTAGATCCCGCAGGTGGCACGTGACAGCTAGGGTTCAAAACGTTCTCACCAAATCCAATGCTCCTCACATATTAATTTTATAACCAGACAAATAAATATTAGAGACAACCACCATCTTTGCGGCGTGTGTGGCTCCTCCTTGCCTTTGCCTGTCTTCTCATTTACTCCCAGCAGAGTGATGGGCTCAAGGCCTGGGGAGGGGGCAAGGAGGGCCATTTTTAGCCTCCCTTCCACAACAGGATGTTGACATTATCTCTAGATGAGGATACGCAGTCACAGAGCTGAACATAGCACAATTTTTGCAGCTCTCCTTTGTGGCATTCCTTGCATTTTTAAATGTTCTGGGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGGGGATCACGAGGTCAGGAGTTCGAGACCGGCTTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAAATAAAGTAGCTGGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCCCTGGAACCCGGGAGGCGGAGGTTGCGGTGAGCCGAAATCGCGCTACTGCGCTCCAGCGCAAGCGACAGAGCGAGACTACGTCTCAAAAAAAAAAAAAAAAAAAAAAAGTTCTGGGAACCTACAAACTCAACTTCAGTCAGAATCCTCTGCATTTGTCCCATAACCCTCGTGTTTTGTTTCTCTGGGCCTGGACCTCTACAGTAACGCAGCAAGGCAGGACATGGTCCTTTTCAACCGGGTAACCATGAAGATGGAGACAGGAGGAGTTCTTTTTGCTGCTCATAAATGCTAGAAGGGGCTTCTTTCCAACCCTGGAAGCCAGAGGGCTCTGTGGCTGACCCAGAGATTGTAGGACCCAGACGCCTGGAAAGGTGGCTCTGACTGGGAAGGAGCAAAGATAAATATCTTTGAGGAATCTGAGACAGATTCCTCAACCCAGGAAGGTGGCCAGCGCGTCCTCCTGAGCCTGGGTGGGAAAGCTTGGCGCCCGGAACCTTTGTACTCGCCCTTCCCTGTGCTCGGGCACTATTGGGCGTTACGCGAGGGCGGGGCCGGTTGCCAGGACGACGCCTGCGAAGATGGCCGCTGCGTCCTCATCGGATTCCGACGCCTGCGGAGCTGAGAGGTGAAGGCAGGGCTCCTCAAGGCCTCTTTTCCCACCCGTGTAAAGAGGGTCCCTTGGTCCCCGGGCTCTGGGCTCCTGCTGTTCTCGGGCAGTCTGGAAGGACTCTTAAGAGGTCAGATAGGGAAACCGAGGCCTAAGATGTGCATATGTGTGTCTGGAGGTCGCTCGGTGAGCCAGTGGCGGAGCCTGGACTTGTACCCAGACGTTCTGTACCTTATGTTCAGAGTGACCTGTACCAGCTTCCTCAAAGTTTTTTTTTCCCCTCCCATGGGACTCACTCCCCAACTGTCTTTCCCCCACTTCCAGCAATGAGGCCAATTCGAAGTGGTTGGATGCGCACTACGACCCAATGGCCAATATCCACACCTTTTCTGCCTGCCTAGGTGAGTCTCTGGAACCAGGAACCCTGGGTTCTAGTGGGATGGGGAGTCAGACAATGGTCCTGTAGTGAAGCCTCTGGGATTCTGAGACTCTGGTTTTGGCCCTTTTGTTTTCCAGCGCTGGCAGATTTACATGGGGATGGGGAATACAAGGTAAGCATATCACCCTAGCCAGGAGAGTTGAGGGTAGGGGGGTGTACCCAGAAATGAGATTTCCTGACGGCTGAAAATAGGCCCAGCATACTCTGGAATTCACATATACTGTGAAAAAGCACATTTAGCGTTAAATTTTGTTTTTATATGGAAAGTGAAGAGAACTTATTGATTTCATAATACAGACTGCAGAAAGTAAAGCAGATCAAATATTTCTGGGGATTCTACTAAGACAAAGCCTCTTAGTTAACCTGATTTCTTTGTTGGAAGGGCAAATCCCTTGGTTGGGGGTGGGCACTAGAATCTGGAGGGAAAGTAAAAAGGAGGGAAGTGAACGTTTGATGTTTATCAAAAGATTTTAAGATGGGCCATGAGCTGTCAATTTTTGAAGCTGGATAATGGGATATATGGGGACTCATTATATGAGTCTCTCTACTTTTGTATGTGAATGAAAATTTTCCATAGTAAAAATGTTACATTTTAAATTTAATTTTAAGGCCAGCAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCGCTTGAGCTTAGGCATTCGAGACCAGCCTGTCCAACATGGTGAAACACCATCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGATGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGGTCAAACCCAGGAGGCGGAGGTTGAGTGAGCTGAGACCATGCCACTACACTCCAGCCTGGATGACAGAGTGAGACAGTTTCAAAAAAAAATATATATATATATATGTGTATATATATGTATATATATGTATATATATGTGTATATATATGTATATATATATACATATATTTAATTTTAAATAAAAATGTAAATTTAAAAAGATACAAGTTTTTTAAAGGTAGAGAAATATATTGGGATAAAAGAAAGGAAGTTAGCATGGATTCAGTATCCATTTCTGGACTAGACATTCCATGGAGGCACATAAACATGGATTTTATTTATTCCCATTTTGTGAATGGGAAAATAGTTTCAAAGAGGTGAAGTTTACTGAATTTGTAACTGGGTCTGTTTGATTCCAAGTTTTGTGCTTTTTCTACCAAAGCTCAGCCCTCACCATGGGCAACAACACCACAATGGATATATCATGTGGGTGGCTAGAAGATAGTCCTGGAATCCCACCCCACACAGAGAGTGCAATAGGACTCAGTGGTTTTTGCCCCCAAATTCCTATCCATAATGTATTCAGTAATTCAGCAAGTGTATAGTGAGTCCCTACTGTGTGTCAGGCATCATGGGGACACTACACTCAGAAATGCATCAGCATGTGGTCAGGAGGAGATACACTGTCGACAATTATTCCATGATATTGATTGAATACCTAGTTTGTATTTGGCTCTGGGCTTACAATAGTGAGGGAAGAGAAACCACAGACACAGTAGCTAATAAGAAATGTTAGCCAGGCACAGTGGCTCAT
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CCCGGGTTCAAGCAATTCTCCAGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCTCATGCCACCACGCCCAGCTAATTTTTTTGTATGTTTAGTATAAACAGTGTTTCATCATGTTGGCCAAGCTGGTCTCAAACTCCTGACCTCAGGTGATCCTCCCACCTCAGCCTACCAAGGTGCTAGGATTACAGGCATGAGCCACCATGCCCAGCCTAAATCTTTATTTGATTGACTGAATGAACGAAAGCAGCAATGCATTTAATACTCCCCCTGTAGTATTTCCTTCCTCACAGGGTTACTGTAAAGAGTAAATTAAGTAATTAACCTAAAACGTAGAGCACAGGTTTTTTTGGCAGAGCTCAGTAAGAAACAGCTGCTGCTGTAATTGTGATTATTAAGATTTTTATGATGATTCAGTTTCCCTATTCAGACCTTTCCCTGCTGTTTTCTCTCCATCTCCTCCCCAGGCTCAGACGTGCAGCTTCTGGAATACGAGGCGTCAGCTGCTGGCCTCATCCGATCCTTCTCTGAGCGTTTCCCAGAGGATGGACCCGAGTTGGAGGAGATCCTCACACAGCTGGCCACAGCCGATGCCCGATTCTGGAAGGGCCCCAGTGAGGCCCCATCTGGCCAAGCTTGAGGAAGATGTGTGGCCTTGCCCCCAATTCCATCAGACCAAGGCTGCAAGTGGCCCTCCATTCGTGTGTGTATTTAGGGGCTGGGGAGGGGGAGGGGCAGGAGCTTGGACCTTGGTACTACCTCAGCTGAGGGTGGTGACACAACCCCTTCCATTTGTCAGCACTTTCCAGCCTGCCAATTGCTTCCCCTCTGTGATCTCATTTCATCTGCACTGCCATACGTGGAGTGAGCAAGACAGGGCTTACCATCCTGTCTACCAGATGAGGAAATGGCAGTTCTGAGAAGTCACTGGTCTAGATCCCGCAGGTGGCACGTGACAGCTAGGGTTCAAAACGTTCTCACCAAATCCAATGCTCCTCACATATTAATTTTATAACCAGACAAATAAATATTAGAGACAACCACCATCTTTGCGGCGTGTGTGGCTCCTCCTTGCCTTTGCCTGTCTTCTCATTTACTCCCAGCAGAGTGATGGGCTCAAGGCCTGGGGAGGGGGCAAGGAGGGCCATTTTTAGCCTCCCTTCCACAACAGGATGTTGACATTATCTCTAGATGAGGATACGCAGTCACAGAGCTGAACATAGCACAATTTTTGCAGCTCTCCTTTGTGGCATTCCTTGCATTTTTAAATGTTCTGGGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGGGGATCACGAGGTCAGGAGTTCGAGACCGGCTTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAAATAAAGTAGCTGGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCCCTGGAACCCGGGAGGCGGAGGTTGCGGTGAGCCGAAATCGCGCTACTGCGCTCCAGCGCAAGCGACAGAGCGAGACTACGTCTCAAAAAAAAAAAAAAAAAAAAAAAGTTCTGGGAACCTACAAACTCAACTTCAGTCAGAATCCTCTGCATTTGTCCCATAACCCTCGTGTTTTGTTTCTCTGGGCCTGGACCTCTACAGTAACGCAGCAAGGCAGGACATGGTCCTTTTCAACCGGGTAACCATGAAGATGGAGACAGGAGGAGTTCTTTTTGCTGCTCATAAATGCTAGAAGGGGCTTCTTTCCAACCCTGGAAGCCAGAGGGCTCTGTGGCTGACCCAGAGATTGTAGGACCCAGACGCCTGGAAAGGTGGCTCTGACTGGGAAGGAGCAAAGATAAATATCTTTGAGGAATCTGAGACAGATTCCTCAACCCAGGAAGGTGGCCAGCGCGTCCTCCTGAGCCTGGGTGGGAAAGCTTGGCGCCCGGAACCTTTGTACTCGCCCTTCCCTGTGCTCGGGCACTATTGGGCGTTACGCGAGGGCGGGGCCGGTTGCCAGGACGACGCCTGCGAAGACGGCCGCTGCGTCCTCATCGGATTCCGACGCCTGCGGAGCTGAGAGGTGAAGGCAGGGCTCCTCAAGGCCTCTTTTCCCACCCGTGTAAAGAGGGTCCCTTGGTCCCCGGGCTCTGGGCTCCTGCTGTTCTCGGGCAGTCTGGAAGGACTCTTAAGAGGTCAGATAGGGAAACCGAGGCCTAAGATGTGCATATGTGTGTCTGGAGGTCGCTCGGTGAGCCAGTGGCGGAGCCTGGACTTGTACCCAGACGTTCTGTACCTTATGTTCAGAGTGACCTGTACCAGCTTCCTCAAAGTTTTTTTTTCCCCTCCCATGGGACTCACTCCCCAACTGTCTTTCCCCCACTTCCAGCAATGAGGCCAATTCGAAGTGGTTGGATGCGCACTACGACCCAATGGCCAATATCCACACCTTTTCTGCCTGCCTAGGTGAGTCTCTGGAACCAGGAACCCTGGGTTCTAGTGGGATGGGGAGTCAGACAATGGTCCTGTAGTGAAGCCTCTGGGATTCTGAGACTCTGGTTTTGGCCCTTTTGTTTTCCAGCGCTGGCAGATTTACATGGGGATGGGGAATACAAGGTAAGCATATCACCCTAGCCAGGAGAGTTGAGGGTAGGGGGGTGTACCCAGAAATGAGATTTCCTGACGGCTGAAAATAGGCCCAGCATACTCTGGAATTCACATATACTGTGAAAAAGCACATTTAGCGTTAAATTTTGTTTTTATATGGAAAGTGAAGAGAACTTATTGATTTCATAATACAGACTGCAGAAAGTAAAGCAGATCAAATATTTCTGGGGATTCTACTAAGACAAAGCCTCTTAGTTAACCTGATTTCTTTGTTGGAAGGGCAAATCCCTTGGTTGGGGGTGGGCACTAGAATCTGGAGGGAAAGTAAAAAGGAGGGAAGTGAACGTTTGATGTTTATCAAAAGATTTTAAGATGGGCCATGAGCTGTCAATTTTTGAAGCTGGATAATGGGATATATGGGGACTCATTATATGAGTCTCTCTACTTTTGTATGTGAATGAAAATTTTCCATAGTAAAAATGTTACATTTTAAATTTAATTTTAAGGCCAGCAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCGCTTGAGCTTAGGCATTCGAGACCAGCCTGTCCAACATGGTGAAACACCATCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGATGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGGTCAAACCCAGGAGGCGGAGGTTGAGTGAGCTGAGACCATGCCACTACACTCCAGCCTGGATGACAGAGTGAGACAGTTTCAAAAAAAAATATATATATATATATGTGTATATATATGTATATATATGTATATATATGTGTATATATATGTATATATATATACATATATTTAATTTTAAATAAAAATGTAAATTTAAAAAGATACAAGTTTTTTAAAGGTAGAGAAATATATTGGGATAAAAGAAAGGAAGTTAGCATGGATTCAGTATCCATTTCTGGACTAGACATTCCATGGAGGCACATAAACATGGATTTTATTTATTCCCATTTTGTGAATGGGAAAATAGTTTCAAAGAGGTGAAGTTTACTGAATTTGTAACTGGGTCTGTTTGATTCCAAGTTTTGTGCTTTTTCTACCAAAGCTCAGCCCTCACCATGGGCAACAACACCACAATGGATATATCATGTGGGTGGCTAGAAGATAGTCCTGGAATCCCACCCCACACAGAGAGTGCAATAGGACTCAGTGGTTTTTGCCCCCAAATTCCTATCCATAATGTATTCAGTAATTCAGCAAGTGTATAGTGAGTCCCTACTGTGTGTCAGGCATCATGGGGACACTACACTCAGAAATGCATCAGCATGTGGTCAGGAGGAGATACACTGTCGACAATTATTCCATGATATTGATTGAATACCTAGTTTGTATTTGGCTCTGGGCTTACAATAGTGAGGGAAGAGAAACCACAGACACAGTAGCTAATAAGAAATGTTAGCCAGGCACAGTGGCTCAT
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Task1_train_16116
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This alteration in BBS1 (Bardet-Biedl syndrome 1) on Chromosome 11 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Bardet-Biedl syndrome 1
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CCGGGTTCAAGCAATTCTCCAGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCTCATGCCACCACGCCCAGCTAATTTTTTTGTATGTTTAGTATAAACAGTGTTTCATCATGTTGGCCAAGCTGGTCTCAAACTCCTGACCTCAGGTGATCCTCCCACCTCAGCCTACCAAGGTGCTAGGATTACAGGCATGAGCCACCATGCCCAGCCTAAATCTTTATTTGATTGACTGAATGAACGAAAGCAGCAATGCATTTAATACTCCCCCTGTAGTATTTCCTTCCTCACAGGGTTACTGTAAAGAGTAAATTAAGTAATTAACCTAAAACGTAGAGCACAGGTTTTTTTGGCAGAGCTCAGTAAGAAACAGCTGCTGCTGTAATTGTGATTATTAAGATTTTTATGATGATTCAGTTTCCCTATTCAGACCTTTCCCTGCTGTTTTCTCTCCATCTCCTCCCCAGGCTCAGACGTGCAGCTTCTGGAATACGAGGCGTCAGCTGCTGGCCTCATCCGATCCTTCTCTGAGCGTTTCCCAGAGGATGGACCCGAGTTGGAGGAGATCCTCACACAGCTGGCCACAGCCGATGCCCGATTCTGGAAGGGCCCCAGTGAGGCCCCATCTGGCCAAGCTTGAGGAAGATGTGTGGCCTTGCCCCCAATTCCATCAGACCAAGGCTGCAAGTGGCCCTCCATTCGTGTGTGTATTTAGGGGCTGGGGAGGGGGAGGGGCAGGAGCTTGGACCTTGGTACTACCTCAGCTGAGGGTGGTGACACAACCCCTTCCATTTGTCAGCACTTTCCAGCCTGCCAATTGCTTCCCCTCTGTGATCTCATTTCATCTGCACTGCCATACGTGGAGTGAGCAAGACAGGGCTTACCATCCTGTCTACCAGATGAGGAAATGGCAGTTCTGAGAAGTCACTGGTCTAGATCCCGCAGGTGGCACGTGACAGCTAGGGTTCAAAACGTTCTCACCAAATCCAATGCTCCTCACATATTAATTTTATAACCAGACAAATAAATATTAGAGACAACCACCATCTTTGCGGCGTGTGTGGCTCCTCCTTGCCTTTGCCTGTCTTCTCATTTACTCCCAGCAGAGTGATGGGCTCAAGGCCTGGGGAGGGGGCAAGGAGGGCCATTTTTAGCCTCCCTTCCACAACAGGATGTTGACATTATCTCTAGATGAGGATACGCAGTCACAGAGCTGAACATAGCACAATTTTTGCAGCTCTCCTTTGTGGCATTCCTTGCATTTTTAAATGTTCTGGGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGGGGATCACGAGGTCAGGAGTTCGAGACCGGCTTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAAATAAAGTAGCTGGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCCCTGGAACCCGGGAGGCGGAGGTTGCGGTGAGCCGAAATCGCGCTACTGCGCTCCAGCGCAAGCGACAGAGCGAGACTACGTCTCAAAAAAAAAAAAAAAAAAAAAAAGTTCTGGGAACCTACAAACTCAACTTCAGTCAGAATCCTCTGCATTTGTCCCATAACCCTCGTGTTTTGTTTCTCTGGGCCTGGACCTCTACAGTAACGCAGCAAGGCAGGACATGGTCCTTTTCAACCGGGTAACCATGAAGATGGAGACAGGAGGAGTTCTTTTTGCTGCTCATAAATGCTAGAAGGGGCTTCTTTCCAACCCTGGAAGCCAGAGGGCTCTGTGGCTGACCCAGAGATTGTAGGACCCAGACGCCTGGAAAGGTGGCTCTGACTGGGAAGGAGCAAAGATAAATATCTTTGAGGAATCTGAGACAGATTCCTCAACCCAGGAAGGTGGCCAGCGCGTCCTCCTGAGCCTGGGTGGGAAAGCTTGGCGCCCGGAACCTTTGTACTCGCCCTTCCCTGTGCTCGGGCACTATTGGGCGTTACGCGAGGGCGGGGCCGGTTGCCAGGACGACGCCTGCGAAGATGGCCGCTGCGTCCTCATCGGATTCCGACGCCTGCGGAGCTGAGAGGTGAAGGCAGGGCTCCTCAAGGCCTCTTTTCCCACCCGTGTAAAGAGGGTCCCTTGGTCCCCGGGCTCTGGGCTCCTGCTGTTCTCGGGCAGTCTGGAAGGACTCTTAAGAGGTCAGATAGGGAAACCGAGGCCTAAGATGTGCATATGTGTGTCTGGAGGTCGCTCGGTGAGCCAGTGGCGGAGCCTGGACTTGTACCCAGACGTTCTGTACCTTATGTTCAGAGTGACCTGTACCAGCTTCCTCAAAGTTTTTTTTTCCCCTCCCATGGGACTCACTCCCCAACTGTCTTTCCCCCACTTCCAGCAATGAGGCCAATTCGAAGTGGTTGGATGCGCACTACGACCCAATGGCCAATATCCACACCTTTTCTGCCTGCCTAGGTGAGTCTCTGGAACCAGGAACCCTGGGTTCTAGTGGGATGGGGAGTCAGACAATGGTCCTGTAGTGAAGCCTCTGGGATTCTGAGACTCTGGTTTTGGCCCTTTTGTTTTCCAGCGCTGGCAGATTTACATGGGGATGGGGAATACAAGGTAAGCATATCACCCTAGCCAGGAGAGTTGAGGGTAGGGGGGTGTACCCAGAAATGAGATTTCCTGACGGCTGAAAATAGGCCCAGCATACTCTGGAATTCACATATACTGTGAAAAAGCACATTTAGCGTTAAATTTTGTTTTTATATGGAAAGTGAAGAGAACTTATTGATTTCATAATACAGACTGCAGAAAGTAAAGCAGATCAAATATTTCTGGGGATTCTACTAAGACAAAGCCTCTTAGTTAACCTGATTTCTTTGTTGGAAGGGCAAATCCCTTGGTTGGGGGTGGGCACTAGAATCTGGAGGGAAAGTAAAAAGGAGGGAAGTGAACGTTTGATGTTTATCAAAAGATTTTAAGATGGGCCATGAGCTGTCAATTTTTGAAGCTGGATAATGGGATATATGGGGACTCATTATATGAGTCTCTCTACTTTTGTATGTGAATGAAAATTTTCCATAGTAAAAATGTTACATTTTAAATTTAATTTTAAGGCCAGCAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCGCTTGAGCTTAGGCATTCGAGACCAGCCTGTCCAACATGGTGAAACACCATCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGATGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGGTCAAACCCAGGAGGCGGAGGTTGAGTGAGCTGAGACCATGCCACTACACTCCAGCCTGGATGACAGAGTGAGACAGTTTCAAAAAAAAATATATATATATATATGTGTATATATATGTATATATATGTATATATATGTGTATATATATGTATATATATATACATATATTTAATTTTAAATAAAAATGTAAATTTAAAAAGATACAAGTTTTTTAAAGGTAGAGAAATATATTGGGATAAAAGAAAGGAAGTTAGCATGGATTCAGTATCCATTTCTGGACTAGACATTCCATGGAGGCACATAAACATGGATTTTATTTATTCCCATTTTGTGAATGGGAAAATAGTTTCAAAGAGGTGAAGTTTACTGAATTTGTAACTGGGTCTGTTTGATTCCAAGTTTTGTGCTTTTTCTACCAAAGCTCAGCCCTCACCATGGGCAACAACACCACAATGGATATATCATGTGGGTGGCTAGAAGATAGTCCTGGAATCCCACCCCACACAGAGAGTGCAATAGGACTCAGTGGTTTTTGCCCCCAAATTCCTATCCATAATGTATTCAGTAATTCAGCAAGTGTATAGTGAGTCCCTACTGTGTGTCAGGCATCATGGGGACACTACACTCAGAAATGCATCAGCATGTGGTCAGGAGGAGATACACTGTCGACAATTATTCCATGATATTGATTGAATACCTAGTTTGTATTTGGCTCTGGGCTTACAATAGTGAGGGAAGAGAAACCACAGACACAGTAGCTAATAAGAAATGTTAGCCAGGCACAGTGGCTCATG
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CCGGGTTCAAGCAATTCTCCAGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCTCATGCCACCACGCCCAGCTAATTTTTTTGTATGTTTAGTATAAACAGTGTTTCATCATGTTGGCCAAGCTGGTCTCAAACTCCTGACCTCAGGTGATCCTCCCACCTCAGCCTACCAAGGTGCTAGGATTACAGGCATGAGCCACCATGCCCAGCCTAAATCTTTATTTGATTGACTGAATGAACGAAAGCAGCAATGCATTTAATACTCCCCCTGTAGTATTTCCTTCCTCACAGGGTTACTGTAAAGAGTAAATTAAGTAATTAACCTAAAACGTAGAGCACAGGTTTTTTTGGCAGAGCTCAGTAAGAAACAGCTGCTGCTGTAATTGTGATTATTAAGATTTTTATGATGATTCAGTTTCCCTATTCAGACCTTTCCCTGCTGTTTTCTCTCCATCTCCTCCCCAGGCTCAGACGTGCAGCTTCTGGAATACGAGGCGTCAGCTGCTGGCCTCATCCGATCCTTCTCTGAGCGTTTCCCAGAGGATGGACCCGAGTTGGAGGAGATCCTCACACAGCTGGCCACAGCCGATGCCCGATTCTGGAAGGGCCCCAGTGAGGCCCCATCTGGCCAAGCTTGAGGAAGATGTGTGGCCTTGCCCCCAATTCCATCAGACCAAGGCTGCAAGTGGCCCTCCATTCGTGTGTGTATTTAGGGGCTGGGGAGGGGGAGGGGCAGGAGCTTGGACCTTGGTACTACCTCAGCTGAGGGTGGTGACACAACCCCTTCCATTTGTCAGCACTTTCCAGCCTGCCAATTGCTTCCCCTCTGTGATCTCATTTCATCTGCACTGCCATACGTGGAGTGAGCAAGACAGGGCTTACCATCCTGTCTACCAGATGAGGAAATGGCAGTTCTGAGAAGTCACTGGTCTAGATCCCGCAGGTGGCACGTGACAGCTAGGGTTCAAAACGTTCTCACCAAATCCAATGCTCCTCACATATTAATTTTATAACCAGACAAATAAATATTAGAGACAACCACCATCTTTGCGGCGTGTGTGGCTCCTCCTTGCCTTTGCCTGTCTTCTCATTTACTCCCAGCAGAGTGATGGGCTCAAGGCCTGGGGAGGGGGCAAGGAGGGCCATTTTTAGCCTCCCTTCCACAACAGGATGTTGACATTATCTCTAGATGAGGATACGCAGTCACAGAGCTGAACATAGCACAATTTTTGCAGCTCTCCTTTGTGGCATTCCTTGCATTTTTAAATGTTCTGGGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGGGGATCACGAGGTCAGGAGTTCGAGACCGGCTTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAAATAAAGTAGCTGGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCCCTGGAACCCGGGAGGCGGAGGTTGCGGTGAGCCGAAATCGCGCTACTGCGCTCCAGCGCAAGCGACAGAGCGAGACTACGTCTCAAAAAAAAAAAAAAAAAAAAAAAGTTCTGGGAACCTACAAACTCAACTTCAGTCAGAATCCTCTGCATTTGTCCCATAACCCTCGTGTTTTGTTTCTCTGGGCCTGGACCTCTACAGTAACGCAGCAAGGCAGGACATGGTCCTTTTCAACCGGGTAACCATGAAGATGGAGACAGGAGGAGTTCTTTTTGCTGCTCATAAATGCTAGAAGGGGCTTCTTTCCAACCCTGGAAGCCAGAGGGCTCTGTGGCTGACCCAGAGATTGTAGGACCCAGACGCCTGGAAAGGTGGCTCTGACTGGGAAGGAGCAAAGATAAATATCTTTGAGGAATCTGAGACAGATTCCTCAACCCAGGAAGGTGGCCAGCGCGTCCTCCTGAGCCTGGGTGGGAAAGCTTGGCGCCCGGAACCTTTGTACTCGCCCTTCCCTGTGCTCGGGCACTATTGGGCGTTACGCGAGGGCGGGGCCGGTTGCCAGGACGACGCCTGCGAAGATAGCCGCTGCGTCCTCATCGGATTCCGACGCCTGCGGAGCTGAGAGGTGAAGGCAGGGCTCCTCAAGGCCTCTTTTCCCACCCGTGTAAAGAGGGTCCCTTGGTCCCCGGGCTCTGGGCTCCTGCTGTTCTCGGGCAGTCTGGAAGGACTCTTAAGAGGTCAGATAGGGAAACCGAGGCCTAAGATGTGCATATGTGTGTCTGGAGGTCGCTCGGTGAGCCAGTGGCGGAGCCTGGACTTGTACCCAGACGTTCTGTACCTTATGTTCAGAGTGACCTGTACCAGCTTCCTCAAAGTTTTTTTTTCCCCTCCCATGGGACTCACTCCCCAACTGTCTTTCCCCCACTTCCAGCAATGAGGCCAATTCGAAGTGGTTGGATGCGCACTACGACCCAATGGCCAATATCCACACCTTTTCTGCCTGCCTAGGTGAGTCTCTGGAACCAGGAACCCTGGGTTCTAGTGGGATGGGGAGTCAGACAATGGTCCTGTAGTGAAGCCTCTGGGATTCTGAGACTCTGGTTTTGGCCCTTTTGTTTTCCAGCGCTGGCAGATTTACATGGGGATGGGGAATACAAGGTAAGCATATCACCCTAGCCAGGAGAGTTGAGGGTAGGGGGGTGTACCCAGAAATGAGATTTCCTGACGGCTGAAAATAGGCCCAGCATACTCTGGAATTCACATATACTGTGAAAAAGCACATTTAGCGTTAAATTTTGTTTTTATATGGAAAGTGAAGAGAACTTATTGATTTCATAATACAGACTGCAGAAAGTAAAGCAGATCAAATATTTCTGGGGATTCTACTAAGACAAAGCCTCTTAGTTAACCTGATTTCTTTGTTGGAAGGGCAAATCCCTTGGTTGGGGGTGGGCACTAGAATCTGGAGGGAAAGTAAAAAGGAGGGAAGTGAACGTTTGATGTTTATCAAAAGATTTTAAGATGGGCCATGAGCTGTCAATTTTTGAAGCTGGATAATGGGATATATGGGGACTCATTATATGAGTCTCTCTACTTTTGTATGTGAATGAAAATTTTCCATAGTAAAAATGTTACATTTTAAATTTAATTTTAAGGCCAGCAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCGCTTGAGCTTAGGCATTCGAGACCAGCCTGTCCAACATGGTGAAACACCATCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGATGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGGTCAAACCCAGGAGGCGGAGGTTGAGTGAGCTGAGACCATGCCACTACACTCCAGCCTGGATGACAGAGTGAGACAGTTTCAAAAAAAAATATATATATATATATGTGTATATATATGTATATATATGTATATATATGTGTATATATATGTATATATATATACATATATTTAATTTTAAATAAAAATGTAAATTTAAAAAGATACAAGTTTTTTAAAGGTAGAGAAATATATTGGGATAAAAGAAAGGAAGTTAGCATGGATTCAGTATCCATTTCTGGACTAGACATTCCATGGAGGCACATAAACATGGATTTTATTTATTCCCATTTTGTGAATGGGAAAATAGTTTCAAAGAGGTGAAGTTTACTGAATTTGTAACTGGGTCTGTTTGATTCCAAGTTTTGTGCTTTTTCTACCAAAGCTCAGCCCTCACCATGGGCAACAACACCACAATGGATATATCATGTGGGTGGCTAGAAGATAGTCCTGGAATCCCACCCCACACAGAGAGTGCAATAGGACTCAGTGGTTTTTGCCCCCAAATTCCTATCCATAATGTATTCAGTAATTCAGCAAGTGTATAGTGAGTCCCTACTGTGTGTCAGGCATCATGGGGACACTACACTCAGAAATGCATCAGCATGTGGTCAGGAGGAGATACACTGTCGACAATTATTCCATGATATTGATTGAATACCTAGTTTGTATTTGGCTCTGGGCTTACAATAGTGAGGGAAGAGAAACCACAGACACAGTAGCTAATAAGAAATGTTAGCCAGGCACAGTGGCTCATG
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Task1_train_16117
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Consider a variant on Chromosome 11 in gene BBS1 (Bardet-Biedl syndrome 1). Determine its clinical classification and disease relevance.
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Pathogenic; Bardet-Biedl syndrome
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CCGGGTTCAAGCAATTCTCCAGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCTCATGCCACCACGCCCAGCTAATTTTTTTGTATGTTTAGTATAAACAGTGTTTCATCATGTTGGCCAAGCTGGTCTCAAACTCCTGACCTCAGGTGATCCTCCCACCTCAGCCTACCAAGGTGCTAGGATTACAGGCATGAGCCACCATGCCCAGCCTAAATCTTTATTTGATTGACTGAATGAACGAAAGCAGCAATGCATTTAATACTCCCCCTGTAGTATTTCCTTCCTCACAGGGTTACTGTAAAGAGTAAATTAAGTAATTAACCTAAAACGTAGAGCACAGGTTTTTTTGGCAGAGCTCAGTAAGAAACAGCTGCTGCTGTAATTGTGATTATTAAGATTTTTATGATGATTCAGTTTCCCTATTCAGACCTTTCCCTGCTGTTTTCTCTCCATCTCCTCCCCAGGCTCAGACGTGCAGCTTCTGGAATACGAGGCGTCAGCTGCTGGCCTCATCCGATCCTTCTCTGAGCGTTTCCCAGAGGATGGACCCGAGTTGGAGGAGATCCTCACACAGCTGGCCACAGCCGATGCCCGATTCTGGAAGGGCCCCAGTGAGGCCCCATCTGGCCAAGCTTGAGGAAGATGTGTGGCCTTGCCCCCAATTCCATCAGACCAAGGCTGCAAGTGGCCCTCCATTCGTGTGTGTATTTAGGGGCTGGGGAGGGGGAGGGGCAGGAGCTTGGACCTTGGTACTACCTCAGCTGAGGGTGGTGACACAACCCCTTCCATTTGTCAGCACTTTCCAGCCTGCCAATTGCTTCCCCTCTGTGATCTCATTTCATCTGCACTGCCATACGTGGAGTGAGCAAGACAGGGCTTACCATCCTGTCTACCAGATGAGGAAATGGCAGTTCTGAGAAGTCACTGGTCTAGATCCCGCAGGTGGCACGTGACAGCTAGGGTTCAAAACGTTCTCACCAAATCCAATGCTCCTCACATATTAATTTTATAACCAGACAAATAAATATTAGAGACAACCACCATCTTTGCGGCGTGTGTGGCTCCTCCTTGCCTTTGCCTGTCTTCTCATTTACTCCCAGCAGAGTGATGGGCTCAAGGCCTGGGGAGGGGGCAAGGAGGGCCATTTTTAGCCTCCCTTCCACAACAGGATGTTGACATTATCTCTAGATGAGGATACGCAGTCACAGAGCTGAACATAGCACAATTTTTGCAGCTCTCCTTTGTGGCATTCCTTGCATTTTTAAATGTTCTGGGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGGGGATCACGAGGTCAGGAGTTCGAGACCGGCTTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAAATAAAGTAGCTGGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCCCTGGAACCCGGGAGGCGGAGGTTGCGGTGAGCCGAAATCGCGCTACTGCGCTCCAGCGCAAGCGACAGAGCGAGACTACGTCTCAAAAAAAAAAAAAAAAAAAAAAAGTTCTGGGAACCTACAAACTCAACTTCAGTCAGAATCCTCTGCATTTGTCCCATAACCCTCGTGTTTTGTTTCTCTGGGCCTGGACCTCTACAGTAACGCAGCAAGGCAGGACATGGTCCTTTTCAACCGGGTAACCATGAAGATGGAGACAGGAGGAGTTCTTTTTGCTGCTCATAAATGCTAGAAGGGGCTTCTTTCCAACCCTGGAAGCCAGAGGGCTCTGTGGCTGACCCAGAGATTGTAGGACCCAGACGCCTGGAAAGGTGGCTCTGACTGGGAAGGAGCAAAGATAAATATCTTTGAGGAATCTGAGACAGATTCCTCAACCCAGGAAGGTGGCCAGCGCGTCCTCCTGAGCCTGGGTGGGAAAGCTTGGCGCCCGGAACCTTTGTACTCGCCCTTCCCTGTGCTCGGGCACTATTGGGCGTTACGCGAGGGCGGGGCCGGTTGCCAGGACGACGCCTGCGAAGATGGCCGCTGCGTCCTCATCGGATTCCGACGCCTGCGGAGCTGAGAGGTGAAGGCAGGGCTCCTCAAGGCCTCTTTTCCCACCCGTGTAAAGAGGGTCCCTTGGTCCCCGGGCTCTGGGCTCCTGCTGTTCTCGGGCAGTCTGGAAGGACTCTTAAGAGGTCAGATAGGGAAACCGAGGCCTAAGATGTGCATATGTGTGTCTGGAGGTCGCTCGGTGAGCCAGTGGCGGAGCCTGGACTTGTACCCAGACGTTCTGTACCTTATGTTCAGAGTGACCTGTACCAGCTTCCTCAAAGTTTTTTTTTCCCCTCCCATGGGACTCACTCCCCAACTGTCTTTCCCCCACTTCCAGCAATGAGGCCAATTCGAAGTGGTTGGATGCGCACTACGACCCAATGGCCAATATCCACACCTTTTCTGCCTGCCTAGGTGAGTCTCTGGAACCAGGAACCCTGGGTTCTAGTGGGATGGGGAGTCAGACAATGGTCCTGTAGTGAAGCCTCTGGGATTCTGAGACTCTGGTTTTGGCCCTTTTGTTTTCCAGCGCTGGCAGATTTACATGGGGATGGGGAATACAAGGTAAGCATATCACCCTAGCCAGGAGAGTTGAGGGTAGGGGGGTGTACCCAGAAATGAGATTTCCTGACGGCTGAAAATAGGCCCAGCATACTCTGGAATTCACATATACTGTGAAAAAGCACATTTAGCGTTAAATTTTGTTTTTATATGGAAAGTGAAGAGAACTTATTGATTTCATAATACAGACTGCAGAAAGTAAAGCAGATCAAATATTTCTGGGGATTCTACTAAGACAAAGCCTCTTAGTTAACCTGATTTCTTTGTTGGAAGGGCAAATCCCTTGGTTGGGGGTGGGCACTAGAATCTGGAGGGAAAGTAAAAAGGAGGGAAGTGAACGTTTGATGTTTATCAAAAGATTTTAAGATGGGCCATGAGCTGTCAATTTTTGAAGCTGGATAATGGGATATATGGGGACTCATTATATGAGTCTCTCTACTTTTGTATGTGAATGAAAATTTTCCATAGTAAAAATGTTACATTTTAAATTTAATTTTAAGGCCAGCAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCGCTTGAGCTTAGGCATTCGAGACCAGCCTGTCCAACATGGTGAAACACCATCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGATGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGGTCAAACCCAGGAGGCGGAGGTTGAGTGAGCTGAGACCATGCCACTACACTCCAGCCTGGATGACAGAGTGAGACAGTTTCAAAAAAAAATATATATATATATATGTGTATATATATGTATATATATGTATATATATGTGTATATATATGTATATATATATACATATATTTAATTTTAAATAAAAATGTAAATTTAAAAAGATACAAGTTTTTTAAAGGTAGAGAAATATATTGGGATAAAAGAAAGGAAGTTAGCATGGATTCAGTATCCATTTCTGGACTAGACATTCCATGGAGGCACATAAACATGGATTTTATTTATTCCCATTTTGTGAATGGGAAAATAGTTTCAAAGAGGTGAAGTTTACTGAATTTGTAACTGGGTCTGTTTGATTCCAAGTTTTGTGCTTTTTCTACCAAAGCTCAGCCCTCACCATGGGCAACAACACCACAATGGATATATCATGTGGGTGGCTAGAAGATAGTCCTGGAATCCCACCCCACACAGAGAGTGCAATAGGACTCAGTGGTTTTTGCCCCCAAATTCCTATCCATAATGTATTCAGTAATTCAGCAAGTGTATAGTGAGTCCCTACTGTGTGTCAGGCATCATGGGGACACTACACTCAGAAATGCATCAGCATGTGGTCAGGAGGAGATACACTGTCGACAATTATTCCATGATATTGATTGAATACCTAGTTTGTATTTGGCTCTGGGCTTACAATAGTGAGGGAAGAGAAACCACAGACACAGTAGCTAATAAGAAATGTTAGCCAGGCACAGTGGCTCATG
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CCGGGTTCAAGCAATTCTCCAGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCTCATGCCACCACGCCCAGCTAATTTTTTTGTATGTTTAGTATAAACAGTGTTTCATCATGTTGGCCAAGCTGGTCTCAAACTCCTGACCTCAGGTGATCCTCCCACCTCAGCCTACCAAGGTGCTAGGATTACAGGCATGAGCCACCATGCCCAGCCTAAATCTTTATTTGATTGACTGAATGAACGAAAGCAGCAATGCATTTAATACTCCCCCTGTAGTATTTCCTTCCTCACAGGGTTACTGTAAAGAGTAAATTAAGTAATTAACCTAAAACGTAGAGCACAGGTTTTTTTGGCAGAGCTCAGTAAGAAACAGCTGCTGCTGTAATTGTGATTATTAAGATTTTTATGATGATTCAGTTTCCCTATTCAGACCTTTCCCTGCTGTTTTCTCTCCATCTCCTCCCCAGGCTCAGACGTGCAGCTTCTGGAATACGAGGCGTCAGCTGCTGGCCTCATCCGATCCTTCTCTGAGCGTTTCCCAGAGGATGGACCCGAGTTGGAGGAGATCCTCACACAGCTGGCCACAGCCGATGCCCGATTCTGGAAGGGCCCCAGTGAGGCCCCATCTGGCCAAGCTTGAGGAAGATGTGTGGCCTTGCCCCCAATTCCATCAGACCAAGGCTGCAAGTGGCCCTCCATTCGTGTGTGTATTTAGGGGCTGGGGAGGGGGAGGGGCAGGAGCTTGGACCTTGGTACTACCTCAGCTGAGGGTGGTGACACAACCCCTTCCATTTGTCAGCACTTTCCAGCCTGCCAATTGCTTCCCCTCTGTGATCTCATTTCATCTGCACTGCCATACGTGGAGTGAGCAAGACAGGGCTTACCATCCTGTCTACCAGATGAGGAAATGGCAGTTCTGAGAAGTCACTGGTCTAGATCCCGCAGGTGGCACGTGACAGCTAGGGTTCAAAACGTTCTCACCAAATCCAATGCTCCTCACATATTAATTTTATAACCAGACAAATAAATATTAGAGACAACCACCATCTTTGCGGCGTGTGTGGCTCCTCCTTGCCTTTGCCTGTCTTCTCATTTACTCCCAGCAGAGTGATGGGCTCAAGGCCTGGGGAGGGGGCAAGGAGGGCCATTTTTAGCCTCCCTTCCACAACAGGATGTTGACATTATCTCTAGATGAGGATACGCAGTCACAGAGCTGAACATAGCACAATTTTTGCAGCTCTCCTTTGTGGCATTCCTTGCATTTTTAAATGTTCTGGGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGGGGATCACGAGGTCAGGAGTTCGAGACCGGCTTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAAATAAAGTAGCTGGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCCCTGGAACCCGGGAGGCGGAGGTTGCGGTGAGCCGAAATCGCGCTACTGCGCTCCAGCGCAAGCGACAGAGCGAGACTACGTCTCAAAAAAAAAAAAAAAAAAAAAAAGTTCTGGGAACCTACAAACTCAACTTCAGTCAGAATCCTCTGCATTTGTCCCATAACCCTCGTGTTTTGTTTCTCTGGGCCTGGACCTCTACAGTAACGCAGCAAGGCAGGACATGGTCCTTTTCAACCGGGTAACCATGAAGATGGAGACAGGAGGAGTTCTTTTTGCTGCTCATAAATGCTAGAAGGGGCTTCTTTCCAACCCTGGAAGCCAGAGGGCTCTGTGGCTGACCCAGAGATTGTAGGACCCAGACGCCTGGAAAGGTGGCTCTGACTGGGAAGGAGCAAAGATAAATATCTTTGAGGAATCTGAGACAGATTCCTCAACCCAGGAAGGTGGCCAGCGCGTCCTCCTGAGCCTGGGTGGGAAAGCTTGGCGCCCGGAACCTTTGTACTCGCCCTTCCCTGTGCTCGGGCACTATTGGGCGTTACGCGAGGGCGGGGCCGGTTGCCAGGACGACGCCTGCGAAGATAGCCGCTGCGTCCTCATCGGATTCCGACGCCTGCGGAGCTGAGAGGTGAAGGCAGGGCTCCTCAAGGCCTCTTTTCCCACCCGTGTAAAGAGGGTCCCTTGGTCCCCGGGCTCTGGGCTCCTGCTGTTCTCGGGCAGTCTGGAAGGACTCTTAAGAGGTCAGATAGGGAAACCGAGGCCTAAGATGTGCATATGTGTGTCTGGAGGTCGCTCGGTGAGCCAGTGGCGGAGCCTGGACTTGTACCCAGACGTTCTGTACCTTATGTTCAGAGTGACCTGTACCAGCTTCCTCAAAGTTTTTTTTTCCCCTCCCATGGGACTCACTCCCCAACTGTCTTTCCCCCACTTCCAGCAATGAGGCCAATTCGAAGTGGTTGGATGCGCACTACGACCCAATGGCCAATATCCACACCTTTTCTGCCTGCCTAGGTGAGTCTCTGGAACCAGGAACCCTGGGTTCTAGTGGGATGGGGAGTCAGACAATGGTCCTGTAGTGAAGCCTCTGGGATTCTGAGACTCTGGTTTTGGCCCTTTTGTTTTCCAGCGCTGGCAGATTTACATGGGGATGGGGAATACAAGGTAAGCATATCACCCTAGCCAGGAGAGTTGAGGGTAGGGGGGTGTACCCAGAAATGAGATTTCCTGACGGCTGAAAATAGGCCCAGCATACTCTGGAATTCACATATACTGTGAAAAAGCACATTTAGCGTTAAATTTTGTTTTTATATGGAAAGTGAAGAGAACTTATTGATTTCATAATACAGACTGCAGAAAGTAAAGCAGATCAAATATTTCTGGGGATTCTACTAAGACAAAGCCTCTTAGTTAACCTGATTTCTTTGTTGGAAGGGCAAATCCCTTGGTTGGGGGTGGGCACTAGAATCTGGAGGGAAAGTAAAAAGGAGGGAAGTGAACGTTTGATGTTTATCAAAAGATTTTAAGATGGGCCATGAGCTGTCAATTTTTGAAGCTGGATAATGGGATATATGGGGACTCATTATATGAGTCTCTCTACTTTTGTATGTGAATGAAAATTTTCCATAGTAAAAATGTTACATTTTAAATTTAATTTTAAGGCCAGCAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCGCTTGAGCTTAGGCATTCGAGACCAGCCTGTCCAACATGGTGAAACACCATCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGATGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGGTCAAACCCAGGAGGCGGAGGTTGAGTGAGCTGAGACCATGCCACTACACTCCAGCCTGGATGACAGAGTGAGACAGTTTCAAAAAAAAATATATATATATATATGTGTATATATATGTATATATATGTATATATATGTGTATATATATGTATATATATATACATATATTTAATTTTAAATAAAAATGTAAATTTAAAAAGATACAAGTTTTTTAAAGGTAGAGAAATATATTGGGATAAAAGAAAGGAAGTTAGCATGGATTCAGTATCCATTTCTGGACTAGACATTCCATGGAGGCACATAAACATGGATTTTATTTATTCCCATTTTGTGAATGGGAAAATAGTTTCAAAGAGGTGAAGTTTACTGAATTTGTAACTGGGTCTGTTTGATTCCAAGTTTTGTGCTTTTTCTACCAAAGCTCAGCCCTCACCATGGGCAACAACACCACAATGGATATATCATGTGGGTGGCTAGAAGATAGTCCTGGAATCCCACCCCACACAGAGAGTGCAATAGGACTCAGTGGTTTTTGCCCCCAAATTCCTATCCATAATGTATTCAGTAATTCAGCAAGTGTATAGTGAGTCCCTACTGTGTGTCAGGCATCATGGGGACACTACACTCAGAAATGCATCAGCATGTGGTCAGGAGGAGATACACTGTCGACAATTATTCCATGATATTGATTGAATACCTAGTTTGTATTTGGCTCTGGGCTTACAATAGTGAGGGAAGAGAAACCACAGACACAGTAGCTAATAAGAAATGTTAGCCAGGCACAGTGGCTCATG
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Task1_train_16118
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This mutation occurs in ZDHHC24, BBS1 (zDHHC palmitoyltransferase 24| Bardet-Biedl syndrome 1) on Chromosome 11. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Bardet-Biedl syndrome
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ACCACTGCACTCCTGCCTGGGCGACAGAGCGAGAACCTGTCTCAAGAAAAAAAAAAGACTGCATAGTTTTTGATCATATGGATGGCTCATAATTGACTTAGACAATCCTCTTTTGTTAGAAAGTTAGATTTGTTGCAATAAACACCTTTGTACTTAAATCTTCTGTCACATCTCTGATATTTCCTCTTCATCCTCCTTTGCCCTCTTTCTTCCCTCATGTGGCATTCTGGGAGTATCTTGGGGGTGGTGTGTGGAGGTTCCCTGGGTGACCCCTGGAGTCCTTCTGTAGACAGTCATCACCACCATGACCACCTTGAAGAAGAACCTGGCTGACGAGGATGCTGTGTCTTGCCTGGTGCTGGGCACCGAGAACAAGGAGCTCCTGGTGCTTGACCCCGAGGCCTTCACCATTTTAGCCAAGGTCAGCGTCAGGTCTGGCCCTGGGCCCGCTGGAGGCCCAGGCTGCATTCTCTCCCCATGCTCCACAGTTAGTTCTGGGTAATATATATGTTCCTTGTAGAAAAATTAGAAACTAGATAAGCATTAAAAAAGATATATATCCAAAAATCCTACCGCCTATGGATGTATACTGTTAAAGTTGAGGCATAGGTCTCTCTAGACATTTTCATATTTAGACATAGATATATAACTTTATGTAAATATTTCTCTTTATAAAAACAGGATTAGCTGGGTGTGGTGGCCCATGCCTCTAACCCTAGTGCTTTGGGAGGCCGAGGCAGGAGGATGGCTTGAGCCCAAGAGTTTCAGGCTGCAGTGAGCTATGATTGTGGCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCTAAAAACAATAAGTAAATAAATAAATAAAAGCAGGAGGATCATGTAACATGTTCTTTTCATGTAGCAGTATATCATCAGTGTCTTTCTATATCTATAAAACCACATCAGCCTTTTATTTTCTTTTGTTTTGTTTTTTGTTTTTGAGGCAGAATCTTGCTGTGTCACCCAGGCTGGAGTACAGTGGCTCTATCTCAGCTCACTGCAGCTTCTACCTCCCGGGTTCAAGCAGTTCTCATGCCTCAGCCACCTGAGTAGCTGGGACTGCAGGCATGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTATCACCCTGTTGGCCAGGCTGGTCTCAAATTCCTTACCTCAAGTGATCTCTGCATCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGACCCCACATCAGCCTTTTTAAAGACCACGCAATATCCATCATATTGAGGTACCATAATTTATTTACCCTGTCACCTATTGTACATTTAAACTGTTTTTCATTTTTTGCTATTAATACCAATGCTATAGACCTTTTTACCCAAATATCCTTGCATGCTTGTTTGTTTGTTTTTGAGACAATCTTGTTCTCTTGCCCAGGCTGAAGTGCAGTGGTACAATCTCAGCTTACTGCAACCTATGCCACCTGGGCTCAAACAGTCCTCTCACCTCATCTTCTCATCTGTGGGACCACCACGCCCAGCTAAGTTTTGTACTTTTGGTAGAGACAAAGTTTTGCCATGTTGGACAGGCTGGTCTTGAACTCCTGAGCTCAAGCGATCCACCCGCCTCAGCCTCTCAAAGTGTTGGGATTACAGGTGTGGGCCACCACACCCAGCTGCACGGTTGTTTAAGTACATCCTTAGGATGCAGTCCTAGAAGTGGCATCGTTTAGTCAAAAGGCACAGACTAAAAGGCTTTTGCTAAATGTTGCCCCAAGTTTCCCTCCTGAAAAACTGTATGAGTTTAAACTGGGTGTAAGTGAGGAGATTGGGACTTTAGACCAGGCACTCACTCAGAGGAGTTACTGACAGGGCAGGGAGGGACGGGGGCTCCAGAGAAATTGGAGTGTTTGCGCTTCTTGTTTGCAGATGAGCCTTCCCAGCGTCCCCGTCTTCCTAGAGGTTTCTGGCCAGTTTGATGTTGAGTTCCGGCTTGCCGCGGCCTGCCGCAATGGAAACATCTATATTCTGAGAAGGTAGCCACATCCGTGGTCTCCGGGGCCGGGAGGAACATCTCAGAAAACTGGTGGCTTCAGAGGCTTGCAAGATGAGAGTGGGCTTTAAGGCTGGAATTTGGAAATGCAAAGAGCTGAGAACTTCATAAAGGAGGCTGAGCCCACAAACACAGGGGAGGATACCTGGAGGCTTGTGAGATAGGGGCTGGCACAGTGAGAGACTAGGCTGGGTGGCTATAGTACAGGAGTGATCAGAAATGAGAGGACAGGCTGGGCGCTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAAGCGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGCATGGTGGCGCATGCCTCTAGCCCCAGCTACTCGGGAGGCTAAGGTAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGTAACGGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAGCAGGGGGGTGCCGGGTGCATTGCCTCACGCCTGTAATCCCAGCACTTTGGAGGCCAACGTGGGTGGATCATGAGGTCAGGAGATCCAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCCGAGATCACGCCACTGCCCTCCAGCCTGGGCACAGAGCGAGACTCTGTCTCAAAAAAAAAGAAAAGGAAACAGATGGGAAGAAATAAAAAAAAATTTCCCATATTTGTTACTTTCTAGGGTACATGACATGACACTTGTTTATGCATTAGTTTAATATTCCATATAAAATGCTTTTTTTTTTTTTTATTTTGTGAGACAGAGTCACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCGTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTGGCCAGGCTGGTCTCGAACGCCTGACCTTGTGATCCACCCTTCTCGGCCTCCCAAAGTGCCGGGATTACAGTCATAAGCCACCACACCCGGCCTAACATGCATTTTTTTAATTCAATAAATATTTATTGAGCACCTACTATGCATTATGCAGTGTGTGGTATTAGGGATATATTGATGAACAAGATAAATATGGTCCCTGTCCTCATGGCGAAGACAGATGTATTAAAGTGAAGAAACCAAGATGTTACTACAAATTGGATGAGTGCTATGGAGAAAAAATACAAGCTCAATGGGGAAAAATAACAGGTAAGGGTGATCAGGAACACCTCTCTGTGGAGATGGCTTGAAAGTTAAAAAGGAACCAGTTGGTGAGAAAGTCGGGAAGAGTGTTGTAGGCCAACTCAAAGTGGGAAAGACATTGGCGTGTGCTCCTCGAATAGAGAGGAACTAACTGTACTTTCTGGAAAGGGAAACTAAAATTGAGAGGCCAGTAAACTAAAAACTGCATTGACACAGGGCAAAGCTCTTCATCCTTTTCTCATAATAAAGTGCCTAAGTCCACTTGTCCTGGCTAGTCCAGCCAAAGGTAAACTCACTGAAAACTCTGTTAAATGCTAGATGATCATACAAGCCACCATAGTGAAGGTGGGCGGAAGACAAGACACCATAGTGAAGGTGGGAGGAAGACAAGACACCATAGTGAAGGTGGGAGGAAGACACACTTGATGTTTTCCAAGGCCACACATTTACTAAGGTGGCAGAAGTGGAAATAATCCCAGGGTCATCTGCTTTGGGGCCAGTGTTCCTCCCAGGTGAGTCCATGAGGTTTAGACAGAGGAGGGTCAGCCATAGAAGTGGAGAGGATTTCTC
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ACCACTGCACTCCTGCCTGGGCGACAGAGCGAGAACCTGTCTCAAGAAAAAAAAAAGACTGCATAGTTTTTGATCATATGGATGGCTCATAATTGACTTAGACAATCCTCTTTTGTTAGAAAGTTAGATTTGTTGCAATAAACACCTTTGTACTTAAATCTTCTGTCACATCTCTGATATTTCCTCTTCATCCTCCTTTGCCCTCTTTCTTCCCTCATGTGGCATTCTGGGAGTATCTTGGGGGTGGTGTGTGGAGGTTCCCTGGGTGACCCCTGGAGTCCTTCTGTAGACAGTCATCACCACCATGACCACCTTGAAGAAGAACCTGGCTGACGAGGATGCTGTGTCTTGCCTGGTGCTGGGCACCGAGAACAAGGAGCTCCTGGTGCTTGACCCCGAGGCCTTCACCATTTTAGCCAAGGTCAGCGTCAGGTCTGGCCCTGGGCCCGCTGGAGGCCCAGGCTGCATTCTCTCCCCATGCTCCACAGTTAGTTCTGGGTAATATATATGTTCCTTGTAGAAAAATTAGAAACTAGATAAGCATTAAAAAAGATATATATCCAAAAATCCTACCGCCTATGGATGTATACTGTTAAAGTTGAGGCATAGGTCTCTCTAGACATTTTCATATTTAGACATAGATATATAACTTTATGTAAATATTTCTCTTTATAAAAACAGGATTAGCTGGGTGTGGTGGCCCATGCCTCTAACCCTAGTGCTTTGGGAGGCCGAGGCAGGAGGATGGCTTGAGCCCAAGAGTTTCAGGCTGCAGTGAGCTATGATTGTGGCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCTAAAAACAATAAGTAAATAAATAAATAAAAGCAGGAGGATCATGTAACATGTTCTTTTCATGTAGCAGTATATCATCAGTGTCTTTCTATATCTATAAAACCACATCAGCCTTTTATTTTCTTTTGTTTTGTTTTTTGTTTTTGAGGCAGAATCTTGCTGTGTCACCCAGGCTGGAGTACAGTGGCTCTATCTCAGCTCACTGCAGCTTCTACCTCCCGGGTTCAAGCAGTTCTCATGCCTCAGCCACCTGAGTAGCTGGGACTGCAGGCATGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTATCACCCTGTTGGCCAGGCTGGTCTCAAATTCCTTACCTCAAGTGATCTCTGCATCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGACCCCACATCAGCCTTTTTAAAGACCACGCAATATCCATCATATTGAGGTACCATAATTTATTTACCCTGTCACCTATTGTACATTTAAACTGTTTTTCATTTTTTGCTATTAATACCAATGCTATAGACCTTTTTACCCAAATATCCTTGCATGCTTGTTTGTTTGTTTTTGAGACAATCTTGTTCTCTTGCCCAGGCTGAAGTGCAGTGGTACAATCTCAGCTTACTGCAACCTATGCCACCTGGGCTCAAACAGTCCTCTCACCTCATCTTCTCATCTGTGGGACCACCACGCCCAGCTAAGTTTTGTACTTTTGGTAGAGACAAAGTTTTGCCATGTTGGACAGGCTGGTCTTGAACTCCTGAGCTCAAGCGATCCACCCGCCTCAGCCTCTCAAAGTGTTGGGATTACAGGTGTGGGCCACCACACCCAGCTGCACGGTTGTTTAAGTACATCCTTAGGATGCAGTCCTAGAAGTGGCATCGTTTAGTCAAAAGGCACAGACTAAAAGGCTTTTGCTAAATGTTGCCCCAAGTTTCCCTCCTGAAAAACTGTATGAGTTTAAACTGGGTGTAAGTGAGGAGATTGGGACTTTAGACCAGGCACTCACTCAGAGGAGTTACTGACAGGGCAGGGAGGGACGGGGGCTCCAGAGAAATTGGAGTGTTTGCGCTTCTTGTTTGCAGATGAGCCTTCCCAGCGTCCCCGTCTTCCTAGAGGTTTCTGGCCAGTTTGATGTTGAGTTCCGGCTTGCCGCGGCCTGCCGCAATGGAAACATCTATATTCTGAGAAAGTAGCCACATCCGTGGTCTCCGGGGCCGGGAGGAACATCTCAGAAAACTGGTGGCTTCAGAGGCTTGCAAGATGAGAGTGGGCTTTAAGGCTGGAATTTGGAAATGCAAAGAGCTGAGAACTTCATAAAGGAGGCTGAGCCCACAAACACAGGGGAGGATACCTGGAGGCTTGTGAGATAGGGGCTGGCACAGTGAGAGACTAGGCTGGGTGGCTATAGTACAGGAGTGATCAGAAATGAGAGGACAGGCTGGGCGCTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAAGCGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGCATGGTGGCGCATGCCTCTAGCCCCAGCTACTCGGGAGGCTAAGGTAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGTAACGGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAGCAGGGGGGTGCCGGGTGCATTGCCTCACGCCTGTAATCCCAGCACTTTGGAGGCCAACGTGGGTGGATCATGAGGTCAGGAGATCCAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCCGAGATCACGCCACTGCCCTCCAGCCTGGGCACAGAGCGAGACTCTGTCTCAAAAAAAAAGAAAAGGAAACAGATGGGAAGAAATAAAAAAAAATTTCCCATATTTGTTACTTTCTAGGGTACATGACATGACACTTGTTTATGCATTAGTTTAATATTCCATATAAAATGCTTTTTTTTTTTTTTATTTTGTGAGACAGAGTCACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCGTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTGGCCAGGCTGGTCTCGAACGCCTGACCTTGTGATCCACCCTTCTCGGCCTCCCAAAGTGCCGGGATTACAGTCATAAGCCACCACACCCGGCCTAACATGCATTTTTTTAATTCAATAAATATTTATTGAGCACCTACTATGCATTATGCAGTGTGTGGTATTAGGGATATATTGATGAACAAGATAAATATGGTCCCTGTCCTCATGGCGAAGACAGATGTATTAAAGTGAAGAAACCAAGATGTTACTACAAATTGGATGAGTGCTATGGAGAAAAAATACAAGCTCAATGGGGAAAAATAACAGGTAAGGGTGATCAGGAACACCTCTCTGTGGAGATGGCTTGAAAGTTAAAAAGGAACCAGTTGGTGAGAAAGTCGGGAAGAGTGTTGTAGGCCAACTCAAAGTGGGAAAGACATTGGCGTGTGCTCCTCGAATAGAGAGGAACTAACTGTACTTTCTGGAAAGGGAAACTAAAATTGAGAGGCCAGTAAACTAAAAACTGCATTGACACAGGGCAAAGCTCTTCATCCTTTTCTCATAATAAAGTGCCTAAGTCCACTTGTCCTGGCTAGTCCAGCCAAAGGTAAACTCACTGAAAACTCTGTTAAATGCTAGATGATCATACAAGCCACCATAGTGAAGGTGGGCGGAAGACAAGACACCATAGTGAAGGTGGGAGGAAGACAAGACACCATAGTGAAGGTGGGAGGAAGACACACTTGATGTTTTCCAAGGCCACACATTTACTAAGGTGGCAGAAGTGGAAATAATCCCAGGGTCATCTGCTTTGGGGCCAGTGTTCCTCCCAGGTGAGTCCATGAGGTTTAGACAGAGGAGGGTCAGCCATAGAAGTGGAGAGGATTTCTC
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Task1_train_16119
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This sequence variant lies in BBS1, ZDHHC24 (Bardet-Biedl syndrome 1| zDHHC palmitoyltransferase 24) on Chromosome 11. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Bardet-Biedl syndrome
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AGACTCCTCCTGCAGCACCCTCCTCTTGCACCCTCCCCACACCAACCTGAGCAGGAGTGCCCCGTTGCTGCCTCCTCCCTGCCACCCCCCACCTCCACCGTCAGCCTCTGGGACCCTTCTCCACAGCCATGCACCGGGCCTTCCAGACAGACCTATACCTGCTGCGCCTACGTGCTGCCCGCGCCTACCTGCAGGCCCTCGAGTCCAGCCTGAGCCCCCTGTCCACGACAGCCCGAGAGCCACTCAAGCTGCACGCCGTGGTGAGCATCTGGGTGAGGGCAGAGTCAGGGCCAGAGGGGCAGAGGCCAGGATGCGCAGGAACCCCTCTGCCACACAGCTAAGCCCCAGAGCCAATTCCAAGCCAACTCAGCCCGTGCTCCCCATCACCTTCCCGCAGACCTGGGGACCGAGTCTCATGTCCTCCTTTGTGAGAGCAGCCCTCACCTTCCCACCCTCCTGTGCCACCTCTCCCCTCGGCTGGCCATGCCGTGGGACACTCTCCAGCTCAGATAGGCCCCCAGAATAGTCATATTAGGACATTTCTTCCCAAGAACCTGAAGGGATCCTTACAGCTATGGTACAAGGAAGAAGGCTGTCACTTTGGTAACTGTGGGCAGCCCAACGTGTTAGGACTGCTGGGTACAGGGAAGGGGCCATCCCGGCCTCACCCGCAAGCACCGAGACCAGCACGGGCAAAAGGAGGAACCCCGCAAGGCTCAGACGCAAATGAGCTTAGGGTCAGCAGGGCTCGGACCAGCCCTAAATGCGTCCCTGAGGTGTGGCATCTGACCCAACCAGGTTCTGAGTTCTCTTTTCCTAAAGAGTGGATAGATGCAGAGGAGGAAGAGGCTACAAGGCAACTCTGGGGAAGCAGGAGAAAAATGAACTGATCAAGCTACCCTAGGATGAGAGTGGGAGGTGGAACAGGCAGGGGGTGGGGGTGAGGGGCTCAGGTGAGAGTCGGGGCCTGCAGTCCCAGGCCAGCTCTGCCTCTGACTTGCTGCCTGGCCTCCCTCAGGCTCTTGCCCTCTCTGGCCTCTTCTGATCCCTCTGCCCCTTCTGGTCTTCTGTGTCTGCTGGGAGGCAGATTGAGTAGGAGGAGGGGACATGAGGGCATTGGTGGAAGGCAGGCAGAGCACACTGTACTCCGTGCCCAAGGCTGCCAGGTCCTAAGGGCTTTCTCCACCCACCCTCTCCATAGGTTCAGGGCCTTGGCCCCACCTTTAAGCTCACACTTCACCTGCAGAACACCTCAACAACCCGTCCTGTCCTGGGGCTGCTGGTCTGCTTCCTGTACAACGAGGCGCTCTATTCCCTGCCCCGGGCCTTCTTCAAGGTACTGGATGCTCCTCACTTAGATATGGAGTGGGAAAGGCCAGGGCAGGGGCCTGATGAGATGCCCACAGAGCCCCGCCAGGTCAGGGTCAGAGCGTGCGGGTGGCTGCCAGGTGGCCAGCAGACCTACTCTCCCACCACAGACCAGGCCAAGGCCCCAGTAGGGGCCTCTGGAGGGAGCCCCAAGCCCTGCCTCTGCTGCTTTTCTTGCAGCCTGTGAGGGGTCTCCACGAGCCATACAGAAGGTGCTGGGAAAACTGCTAGAGCCTGAACCCCACCTACACCTCCCAGAAGGGTCTGGGGGACCCCAGAGTGTGAAGGGCCTGGTTTTCCCCCAGGGCCCAGGTCTGACCCCAAGTTGGGAGGACCAGAAAATGCAAAAGGCTGGAATATGCAATAAACAGCCCCAGACTTGGTGGGAGTCCAGAGGTCTAGGTTTCATCACTCACCATGAGGCCCTGGGCCATTCACTTCCCCACCACACCTGCATCCTCCTCCACCCAGCAGTTGTCCTGCCCACCCTGCAGGGGTGCTGAGGCTCAGTGGAGACTGCGGGCCTGAATGCACTGGAATATGCCAAACACTGGCACGAGGGCTGGTTTCCTTACTTCTTTGTCCCCAAACTTAGGTACCCTTGCTGGTGCCAGGGCTCAACTACCCCCTGGAGACCTTTGTGGAGAGTCTCAGTAACAAGGGCATCTCAGACATCATCAAGGTAGGCCCCGCACTTGTACCACGTGGAAGGTGAGCAGGACCCTGGGGAGGACAGTAAGGGTGAGTGCCAACAAAGACCTTAGGGGGCTCCTGGGTGGGGGTGGGGGTATCTGCACAGTGGAGCCCTGTGGCCTGTCATTAGGGCCAGCGCAGACCAGGCAAGGGGTCAGGGGTGTATGCCCCCTGCTGCCATGGCCACTCCTCCATAGGTGCTGGTGCTTCGAGAAGGCCAAAGTGCACCCCTGCTGAGTGCCCACGTCAACATGCCTGGGAGCGAGGGGCTGGCGGCCGCCTGAGACCTGAGCTGCTGTGAAAGCCCCTGCACAATCAGCCAGGGAGAACTGGGCGGGTTTAGTGGCCCCAGGCCCACTCCTCATGCAGCAGTGTGCTGGGGCGACAGCTCGTCTCCCCTCTCTTAAGCACCCGCTTCCTCACCACCCCCACTGTTGGGCCTATAGTAGCAGGTTAGTGAGTACCTAGGGCGGCTCAACTCCTCCCACAGCACCAACCCAGCATGGTCCCACTGAAGTCCTACTACGCCCTCCCCTCCCCAGCCTTTTCCAGAAACCATACTGGGCTCAGATCAGAGCTCCGAAGCGGTCAAAGTGAGCTGAGCAGGACAGGCCCAGCCTTTCTCCACTGCCACGTCCCTCATGCACATCACTCATCTCCTGCTGCAGGCCAAGGCCAAAATTGGGCTAGTCCTGGCCAGGGAAATCAGAAGCTCTTCTTGGGTGAGATTGAGCCTCCTGTTGCTCCCTGGAGTTCCGGAGGCTGGGCTGCAGCCCACTCAGCTTGCGGGCAAAATACGTGCTCTCCTCTCTCCTTGTCAGCTGAGCAAACCCAGGGAATAGCCCTCCTCTCCCCAGGAAACTTCTCTGAAATCTTAGACTTAGCCAGTCTTAGGCCTACGATGCCACACAAAGGTTGTTCAGGGAGAAGGGGGTGCAGGAGGCAGAGGGTGCCCCGCAGGGAGCTGGTGGCTCCAGCCCCACTAGAGCTCCTAAAGATCACACAGCAGCTGCTCCTGACAGGGATGCTCATGCCCAGAAAGCAAGCCCAGGAGAGGAAGGCAGAGTGTGACAGAGCAGAGCCAGGGCCAGGCGCACCAGGAGAGGCGTTTCTGGGGCTCCAGAGAAGTGCCACGGGAGGCAGAAGTCCAGAACTGCCCATATAGATGCCCTTCTACATCCTGGAGCCCAAATCAGTCATGTGGGTGGGAAGTTCCCAGGGCAGTGGTCACATCGTGAGAATTAGCAGGAAAGGCGGGGCCTTTCTTGTCATAGCTATTTCTGAGGATGAAATGGGAGACATATGCCCAGCACCTGATGTAAGTTTATATAATGTAATATTATGTACCTACCACTAAGAAATACATGAACCGTGCCATGAGGACAGTAAGTGTTCATAAAGCAACATGAAGCAAGAAACAGTGCAGGGTGCCCAGTGCACACACTAGAGAGAAATTGTGAACATTAAGGACAAGGAGAATTGGTGTCTTTCTAAAACATACTTATTTAAAAACACATACCCACTTACTAATGTGGAATTACACAGTTTGTAACAAGAAAACAGTCTCTCCCATTCTCTAGTACTGCTCCCCTACCCAGCAGTCACTTCCAGTTCATTCAGCTATTTTTAAAATGTGCTTATATGACTCTTGCTTGATATATCAATCTTAGACATTACCTGTTGACTCCCTGTTGTCATACATGAGGCTTTAGCTCTCTTTTGTCAGCAACCCTCCCCCATCCCTAGTTATTAGGTTAAAAAATACTCAGATTACTATTTCTATTACTATGTGAAAGTTAACTGCGGAGCCAAGAGTTGGACTATAATTAAATTACCTTCCTTGTACTTTCTTTTTAATGGAGTTAATGAGTTGCCCTGAGTTTCTCATTTACTTTGTTTTCTGATGGACTGATTGCTAATTCTTCCCCCACCATCTGACAGCTCCTCTTTTTTCTAGACACTTCCCTTCATCCCCTGCTTCACTGAGGACTGTTTGTTTTCCAGGTAAATTGCCTTTGCCTCTCTCCTGGGCTAG
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AGACTCCTCCTGCAGCACCCTCCTCTTGCACCCTCCCCACACCAACCTGAGCAGGAGTGCCCCGTTGCTGCCTCCTCCCTGCCACCCCCCACCTCCACCGTCAGCCTCTGGGACCCTTCTCCACAGCCATGCACCGGGCCTTCCAGACAGACCTATACCTGCTGCGCCTACGTGCTGCCCGCGCCTACCTGCAGGCCCTCGAGTCCAGCCTGAGCCCCCTGTCCACGACAGCCCGAGAGCCACTCAAGCTGCACGCCGTGGTGAGCATCTGGGTGAGGGCAGAGTCAGGGCCAGAGGGGCAGAGGCCAGGATGCGCAGGAACCCCTCTGCCACACAGCTAAGCCCCAGAGCCAATTCCAAGCCAACTCAGCCCGTGCTCCCCATCACCTTCCCGCAGACCTGGGGACCGAGTCTCATGTCCTCCTTTGTGAGAGCAGCCCTCACCTTCCCACCCTCCTGTGCCACCTCTCCCCTCGGCTGGCCATGCCGTGGGACACTCTCCAGCTCAGATAGGCCCCCAGAATAGTCATATTAGGACATTTCTTCCCAAGAACCTGAAGGGATCCTTACAGCTATGGTACAAGGAAGAAGGCTGTCACTTTGGTAACTGTGGGCAGCCCAACGTGTTAGGACTGCTGGGTACAGGGAAGGGGCCATCCCGGCCTCACCCGCAAGCACCGAGACCAGCACGGGCAAAAGGAGGAACCCCGCAAGGCTCAGACGCAAATGAGCTTAGGGTCAGCAGGGCTCGGACCAGCCCTAAATGCGTCCCTGAGGTGTGGCATCTGACCCAACCAGGTTCTGAGTTCTCTTTTCCTAAAGAGTGGATAGATGCAGAGGAGGAAGAGGCTACAAGGCAACTCTGGGGAAGCAGGAGAAAAATGAACTGATCAAGCTACCCTAGGATGAGAGTGGGAGGTGGAACAGGCAGGGGGTGGGGGTGAGGGGCTCAGGTGAGAGTCGGGGCCTGCAGTCCCAGGCCAGCTCTGCCTCTGACTTGCTGCCTGGCCTCCCTCAGGCTCTTGCCCTCTCTGGCCTCTTCTGATCCCTCTGCCCCTTCTGGTCTTCTGTGTCTGCTGGGAGGCAGATTGAGTAGGAGGAGGGGACATGAGGGCATTGGTGGAAGGCAGGCAGAGCACACTGTACTCCGTGCCCAAGGCTGCCAGGTCCTAAGGGCTTTCTCCACCCACCCTCTCCATAGGTTCAGGGCCTTGGCCCCACCTTTAAGCTCACACTTCACCTGCAGAACACCTCAACAACCCGTCCTGTCCTGGGGCTGCTGGTCTGCTTCCTGTACAACGAGGCGCTCTATTCCCTGCCCCGGGCCTTCTTCAAGGTACTGGATGCTCCTCACTTAGATATGGAGTGGGAAAGGCCAGGGCAGGGGCCTGATGAGATGCCCACAGAGCCCCGCCAGGTCAGGGTCAGAGCGTGCGGGTGGCTGCCAGGTGGCCAGCAGACCTACTCTCCCACCACAGACCAGGCCAAGGCCCCAGTAGGGGCCTCTGGAGGGAGCCCCAAGCCCTGCCTCTGCTGCTTTTCTTGCAGCCTGTGAGGGGTCTCCACGAGCCATACAGAAGGTGCTGGGAAAACTGCTAGAGCCTGAACCCCACCTACACCTCCCAGAAGGGTCTGGGGGACCCCAGAGTGTGAAGGGCCTGGTTTTCCCCCAGGGCCCAGGTCTGACCCCAAGTTGGGAGGACCAGAAAATGCAAAAGGCTGGAATATGCAATAAACAGCCCCAGACTTGGTGGGAGTCCAGAGGTCTAGGTTTCATCACTCACCATGAGGCCCTGGGCCATTCACTTCCCCACCACACCTGCATCCTCCTCCACCCAGCAGTTGTCCTGCCCACCCTGCAGGGGTGCTGAGGCTCAGTGGAGACTGCGGGCCTGAATGCACTGGAATATGCCAAACACTGGCACGAGGGCTGGTTTCCTTACTTCTTTGTCCCCAAACTTAGGTACCCTTGCTGGTGCCAGGGCTCAACTACCCCCTGGAGACCTTTGTGGAGAGTCTCAGTAACAAGGGCATCTCAGACATCATCAGGGTAGGCCCCGCACTTGTACCACGTGGAAGGTGAGCAGGACCCTGGGGAGGACAGTAAGGGTGAGTGCCAACAAAGACCTTAGGGGGCTCCTGGGTGGGGGTGGGGGTATCTGCACAGTGGAGCCCTGTGGCCTGTCATTAGGGCCAGCGCAGACCAGGCAAGGGGTCAGGGGTGTATGCCCCCTGCTGCCATGGCCACTCCTCCATAGGTGCTGGTGCTTCGAGAAGGCCAAAGTGCACCCCTGCTGAGTGCCCACGTCAACATGCCTGGGAGCGAGGGGCTGGCGGCCGCCTGAGACCTGAGCTGCTGTGAAAGCCCCTGCACAATCAGCCAGGGAGAACTGGGCGGGTTTAGTGGCCCCAGGCCCACTCCTCATGCAGCAGTGTGCTGGGGCGACAGCTCGTCTCCCCTCTCTTAAGCACCCGCTTCCTCACCACCCCCACTGTTGGGCCTATAGTAGCAGGTTAGTGAGTACCTAGGGCGGCTCAACTCCTCCCACAGCACCAACCCAGCATGGTCCCACTGAAGTCCTACTACGCCCTCCCCTCCCCAGCCTTTTCCAGAAACCATACTGGGCTCAGATCAGAGCTCCGAAGCGGTCAAAGTGAGCTGAGCAGGACAGGCCCAGCCTTTCTCCACTGCCACGTCCCTCATGCACATCACTCATCTCCTGCTGCAGGCCAAGGCCAAAATTGGGCTAGTCCTGGCCAGGGAAATCAGAAGCTCTTCTTGGGTGAGATTGAGCCTCCTGTTGCTCCCTGGAGTTCCGGAGGCTGGGCTGCAGCCCACTCAGCTTGCGGGCAAAATACGTGCTCTCCTCTCTCCTTGTCAGCTGAGCAAACCCAGGGAATAGCCCTCCTCTCCCCAGGAAACTTCTCTGAAATCTTAGACTTAGCCAGTCTTAGGCCTACGATGCCACACAAAGGTTGTTCAGGGAGAAGGGGGTGCAGGAGGCAGAGGGTGCCCCGCAGGGAGCTGGTGGCTCCAGCCCCACTAGAGCTCCTAAAGATCACACAGCAGCTGCTCCTGACAGGGATGCTCATGCCCAGAAAGCAAGCCCAGGAGAGGAAGGCAGAGTGTGACAGAGCAGAGCCAGGGCCAGGCGCACCAGGAGAGGCGTTTCTGGGGCTCCAGAGAAGTGCCACGGGAGGCAGAAGTCCAGAACTGCCCATATAGATGCCCTTCTACATCCTGGAGCCCAAATCAGTCATGTGGGTGGGAAGTTCCCAGGGCAGTGGTCACATCGTGAGAATTAGCAGGAAAGGCGGGGCCTTTCTTGTCATAGCTATTTCTGAGGATGAAATGGGAGACATATGCCCAGCACCTGATGTAAGTTTATATAATGTAATATTATGTACCTACCACTAAGAAATACATGAACCGTGCCATGAGGACAGTAAGTGTTCATAAAGCAACATGAAGCAAGAAACAGTGCAGGGTGCCCAGTGCACACACTAGAGAGAAATTGTGAACATTAAGGACAAGGAGAATTGGTGTCTTTCTAAAACATACTTATTTAAAAACACATACCCACTTACTAATGTGGAATTACACAGTTTGTAACAAGAAAACAGTCTCTCCCATTCTCTAGTACTGCTCCCCTACCCAGCAGTCACTTCCAGTTCATTCAGCTATTTTTAAAATGTGCTTATATGACTCTTGCTTGATATATCAATCTTAGACATTACCTGTTGACTCCCTGTTGTCATACATGAGGCTTTAGCTCTCTTTTGTCAGCAACCCTCCCCCATCCCTAGTTATTAGGTTAAAAAATACTCAGATTACTATTTCTATTACTATGTGAAAGTTAACTGCGGAGCCAAGAGTTGGACTATAATTAAATTACCTTCCTTGTACTTTCTTTTTAATGGAGTTAATGAGTTGCCCTGAGTTTCTCATTTACTTTGTTTTCTGATGGACTGATTGCTAATTCTTCCCCCACCATCTGACAGCTCCTCTTTTTTCTAGACACTTCCCTTCATCCCCTGCTTCACTGAGGACTGTTTGTTTTCCAGGTAAATTGCCTTTGCCTCTCTCCTGGGCTAG
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Task1_train_16120
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The gene CTSF (cathepsin F) on Chromosome 11 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Neuronal ceroid lipofuscinosis 13
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GGATGGAGGCCCAGTGAGGGGGAGGACTTGCCCAGGGTCATTCAGTGAACTGGATGTGGAGCTAGAGCCAGTGGCCAGGCACTGGCCGCCCACTGACAGTGGCCTGTCCCCTGACCGCCAGCACATCCGCGTGGGCTGGGAGCAGCTGCTCACCTCCATTGCCCGCACCATCAATGAAGTGGAGAACCAGGTACTGACCCGAGACGCCAAGGGACTGAGCCAGGAGCAGCTCAACGAGTTCCGAGCATCCTTCAACCACTTTGACAGGGTCAGCAGGGGCCTGGCCCTGTGGGGTAAGACACTTGGGGGCTGGTGGAGGCTGGAGACCAAGCCTGATAACCACTCACCCCCTACAGAAGCAGAATGGGATGATGGAGCCTGATGACTTCCGAGCTTGCCTCATCTCCATGGGCTATGACCTGGTGAGAGCTCCCCAGCTCCTTCCCAGGAGTCCCAAAGTACCCCCTCCTCTGTGCTGATCACCTACTGTGCACCTCCCATCTTCACATACACCATCCCCTGCATCTTCACTACATCCACACAGGGGCTAGCAAGGCTCAGGGAGGTAAAACTCACTTGGACCCAGTTCTGTGTGGACCCAAAGTCTGAGCTTGCAACATTTTTACCTGTAGGGAAACAGCACTACAGAAACGGGTGTGGCCCTGGAAAAAAAATCAGGACCAGGGAGCAAATCTGCTTCCTGCTGTGGGTAGGATGCAGATTTCAGCCTACCATAAAGGACTTCCTACAGCCAGGGCTAAGGTCTCTGGAGGAAGGGAACTCCCTTGTTACTGGGGCTCTGCTAGCTGAGGTTGGACAGTCCCCAGGAGGGGACACTGGGAGCCCTCCTGGCTTTAGTGCTCATGGGCATAGTGCCTGGCCTCTATCCCTGCAGGGGGAAGTGGAGTTTGCTCGCATCATGACCATGGTGGACCCCAACGCAGCTGGGGTGGTGACCTTCCAGGCCTTCATAGACTTCATGACCCGAGAGACAGCCGAGACTGACACGACTGAGCAAGTTGTAGCTTCCTTCAAGATCTTGGCAGGAGACAAGGTGAGTCCCAGGCGGTGGAGGGGCTGGTGGGCTAGGGCAGGGCACGGGACCTGTGGGTCCTCAACGCCTCTTCTCCCCAGAACTACATCACCCCCGAGGAGCTGCGGCGCGAGCTCCCTGCCAAGCAGGCCGAGTACTGCATCCGCCGTATGGTGCCCTACAAGGGATCCGGGGCCCCGGCTGGAGCCCTGGACTACGTGGCCTTCTCCAGTGCCCTCTATGGGGAGAGCGACCTTTGACCCCAACCACTGAGGTTCTCTATGCAAGATGGAGAGAGGATGCACCCTGTGGCTGATCCCATCCGTCCCTCGGAGCAAGGGCCTAAGAGAAAAGCCAGCCAAGTGCTTCTGAATAAAGATCCCTCTCTGGGTCTCTCCCCATCTCCTTTTAGTTCCTGAAGCAGAAGCTGGCCCCTCAGGCTCCTGGGCAGGACCAGCTATCCCACCTTGACCCGCCAGGAGTCCCTGCCATCTCTCCTCACCCCCGGGGACTGAGCATTTATACCACACTCGGGACAAGGACACCTCTTTATTGCTGTTAGAAAAGGGTGGTTACAAGTTTCCTGGACATGGAGAGGGACACTATCCCTAAATCCAAGGGAACCAGAAAATTTATAGTATCAAACAGAGGAAAGCGGGGGCAGAACAGAGCTGGGCTTAAGATCAGAAAATTTTCTTCCTGCTCATTACCCAAGCCCAGAGTTCTTGCCCCAGCTTCAACTGCCAAGATACCACCCTTCACCCCGACATCCTCCTAAGCTACCACAATTCAACAAAGGTGCAGGTGCAGAACTTCAGGGTGGGAATGGGGTGCAGGGAAGCAGGGGCTGTGCCCCAGCCCAGTGCCCTCTGCTCACCCTGAGGTACCCAGTGCCTTTCCCTCTGCCAGCTGTACCTCCCGGGGAGGGGCCTGGACACATGTCAGGCTGGGGCAGCAGCCACTCTGATCAGCACCAGGTCCCGAGCTGGGGGCCCCTCTTCAGTCCACCACCGCCGAGCTGGCCATGGTGTTCACGCCACAGGCCCCGGACCCACGATGCAAGTAGTAGTAACCCTGGGGGAGAGGGGGAGCTGGTGAGGGCACCAGGGTAGGATGGCGGCTGGAGGGCCAGGGGCCAAGCCAGCAAGACTCACCTTCTCACCCCAGTCAGTGCCCCAGCTGTTCTTGATGGCCCAAAAGGGAACGTCAGAGCCTGGGGTGCAGTGCAGAGCGCAAGGATCAGGGTCCTTAATTCTCCAGGCAGAGCCTTAATCACTTTGCACCCTTCAAATACTTGCACTGGGCCTACTGTGTGACAGGGACTAGGAAAAGAGCAGAAAGCGAGGGGCCCACCTACCAGCCTCAGGGAGAAGCCCTGGGGCAGGGAGGAAGCACGCACCCACCCGCCTATTGCAGGTTATTAGGCCATCAATATTTACCCTCCCACAGCTCAGCTTCCCTGCCATAGAGAGGACAGATGATGCCCAGCTGGTCATGGCCCAGGCAGTGGGTAAGGACAGGGTTCCTAGGCATTCCCCCTATTTCCCCTCTAGAGGACCTGAGATGCTGTGATCCCACCCCTGCCTGTGGCCTGGCTGGATGCAGGACAGGCAGCGGAACTCACGGTTGCCGTAGCCCACAAGCAACACCGCATGGTCAATGAGCCAAGGGCTGCAGAGGGGCCGGAGAGGGCGGGAGATCCCGTGGCGGTAAAACTGGAGGTGGAGAAGGAGTAGGGGATCGACTCCAAGAAGAGGTCGGGGAGGTCAACAAGAGATGGGGCAGGGGCAGTGGGGCTAGGGCCTCACCTGCATGCCAAAGGCATTGATGGCCACGGAGATTGGGCCTCTCTTGGCCAGCCAGGCTGCCAGCTCTGAGATGGGAAGGGGTGGCATCAGTAGGCACCCAGGCCCCGGCCCCACCTGACCTCACCTCACCCTGCCCCTCACTCACTCTGCTCGTTCTGGCTCAGCTCCACGGAGTCATTGATGTAGACCTTGGCCTTCTCTGCTGAGAAGTTGCAGGACTGCATGTGACCCTGGTAGCTGTAGTCATCCTCTGTCTCCAGCCCTCCTGGGGAACGGTGGGGGTGAGTAGAGAAGGGCAGGCTCCCATTTGCCATTCACAGCCAGAAATGAACTAAGCCCTCTACGCGAGGTTTCACATTCCTCGTCCACCCCAGGCCACAGGCCATCCCCTCTGAAGAATGTCTTCATTCTAGAAATGACACATCTGAGGCTGGGAGAGATGGGGAGGAGGGACCAGTAGCCAGCAAGAAAAGTGGCAGAGACAGAACTCAACTCCAACTTCTGACTCCTCACCAAGAGCTCATCCCAGCAGTCTTTCACCCAGGCTGGAGTACAGTGGCACAAACATGCCTCACTACAGCCTCAACCTCCTGGGCTCAAGCGATCCTCCTGCCTCAGCCCCCCAAGTAGCTGAGACTACAGATGCAAGCCACCATGCCTGGCTAATGTCTTTAATTTTTTGTAGAGATGGGGTCTTGCTATGTTGCCCAACCTGGTCCTGAACTTCTGGCCTTAAGTGATCTTCCCAAGTTGGCCTCCCAAAGTGTTGGAATTACAGGCATGAGCCACCACGCCTGGCTGGGTCAGCATTAAGACCTGGACCCAGTTCTGTGTAACTCTCATGCTCATGTCTCCCCCCCATTATGAAGTAACTTCTTGTACAGGGAGAAGTGGCTCCGGTTGCCCCTCCTGACCCCATTAATGCATACCCAAATTCTTTATGGCCGAGTAGGCATTGGAGGGCAAGCCGCCCATGCAGGCCTTGTCCATCTTGTCACAGTCCAAGAGCTCTAGGAGACAGAAGGCTGGTCCCAAGAAGCCCTCCTGAGGGGCTAGGCTGGGGACAGAGGAGTAGAGCGAGATGCTCACCCTGTTCAGAGAGGGAGAGCAGGGTCCCCTGGTTGAGAAACCACTGGCCCTCCACATTGCCTGTGACTGAGAAGGCCCAGCAGGAGCCACACATGCCCTACAAGAGATGGGTGGAGTTGGAGTCAGAGCCGGGCCCCTTCGTCAGCCCCAGTGCAGTGCCCATGTC
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GGATGGAGGCCCAGTGAGGGGGAGGACTTGCCCAGGGTCATTCAGTGAACTGGATGTGGAGCTAGAGCCAGTGGCCAGGCACTGGCCGCCCACTGACAGTGGCCTGTCCCCTGACCGCCAGCACATCCGCGTGGGCTGGGAGCAGCTGCTCACCTCCATTGCCCGCACCATCAATGAAGTGGAGAACCAGGTACTGACCCGAGACGCCAAGGGACTGAGCCAGGAGCAGCTCAACGAGTTCCGAGCATCCTTCAACCACTTTGACAGGGTCAGCAGGGGCCTGGCCCTGTGGGGTAAGACACTTGGGGGCTGGTGGAGGCTGGAGACCAAGCCTGATAACCACTCACCCCCTACAGAAGCAGAATGGGATGATGGAGCCTGATGACTTCCGAGCTTGCCTCATCTCCATGGGCTATGACCTGGTGAGAGCTCCCCAGCTCCTTCCCAGGAGTCCCAAAGTACCCCCTCCTCTGTGCTGATCACCTACTGTGCACCTCCCATCTTCACATACACCATCCCCTGCATCTTCACTACATCCACACAGGGGCTAGCAAGGCTCAGGGAGGTAAAACTCACTTGGACCCAGTTCTGTGTGGACCCAAAGTCTGAGCTTGCAACATTTTTACCTGTAGGGAAACAGCACTACAGAAACGGGTGTGGCCCTGGAAAAAAAATCAGGACCAGGGAGCAAATCTGCTTCCTGCTGTGGGTAGGATGCAGATTTCAGCCTACCATAAAGGACTTCCTACAGCCAGGGCTAAGGTCTCTGGAGGAAGGGAACTCCCTTGTTACTGGGGCTCTGCTAGCTGAGGTTGGACAGTCCCCAGGAGGGGACACTGGGAGCCCTCCTGGCTTTAGTGCTCATGGGCATAGTGCCTGGCCTCTATCCCTGCAGGGGGAAGTGGAGTTTGCTCGCATCATGACCATGGTGGACCCCAACGCAGCTGGGGTGGTGACCTTCCAGGCCTTCATAGACTTCATGACCCGAGAGACAGCCGAGACTGACACGACTGAGCAAGTTGTAGCTTCCTTCAAGATCTTGGCAGGAGACAAGGTGAGTCCCAGGCGGTGGAGGGGCTGGTGGGCTAGGGCAGGGCACGGGACCTGTGGGTCCTCAACGCCTCTTCTCCCCAGAACTACATCACCCCCGAGGAGCTGCGGCGCGAGCTCCCTGCCAAGCAGGCCGAGTACTGCATCCGCCGTATGGTGCCCTACAAGGGATCCGGGGCCCCGGCTGGAGCCCTGGACTACGTGGCCTTCTCCAGTGCCCTCTATGGGGAGAGCGACCTTTGACCCCAACCACTGAGGTTCTCTATGCAAGATGGAGAGAGGATGCACCCTGTGGCTGATCCCATCCGTCCCTCGGAGCAAGGGCCTAAGAGAAAAGCCAGCCAAGTGCTTCTGAATAAAGATCCCTCTCTGGGTCTCTCCCCATCTCCTTTTAGTTCCTGAAGCAGAAGCTGGCCCCTCAGGCTCCTGGGCAGGACCAGCTATCCCACCTTGACCCGCCAGGAGTCCCTGCCATCTCTCCTCACCCCCGGGGACTGAGCATTTATACCACACTCGGGACAAGGACACCTCTTTATTGCTGTTAGAAAAGGGTGGTTACAAGTTTCCTGGACATGGAGAGGGACACTATCCCTAAATCCAAGGGAACCAGAAAATTTATAGTATCAAACAGAGGAAAGCGGGGGCAGAACAGAGCTGGGCTTAAGATCAGAAAATTTTCTTCCTGCTCATTACCCAAGCCCAGAGTTCTTGCCCCAGCTTCAACTGCCAAGATACCACCCTTCACCCCGACATCCTCCTAAGCTACCACAATTCAACAAAGGTGCAGGTGCAGAACTTCAGGGTGGGAATGGGGTGCAGGGAAGCAGGGGCTGTGCCCCAGCCCAGTGCCCTCTGCTCACCCTGAGGTACCCAGTGCCTTTCCCTCTGCCAGCTGTACCTCCCGGGGAGGGGCCTGGACACATGTCAGGCTGGGGCAGCAGCCACTCTGATCAGCACCAGGTCCCGAGCTGGGGGCCCCTCTTCAGTCCACCACCGCCAAGCTGGCCATGGTGTTCACGCCACAGGCCCCGGACCCACGATGCAAGTAGTAGTAACCCTGGGGGAGAGGGGGAGCTGGTGAGGGCACCAGGGTAGGATGGCGGCTGGAGGGCCAGGGGCCAAGCCAGCAAGACTCACCTTCTCACCCCAGTCAGTGCCCCAGCTGTTCTTGATGGCCCAAAAGGGAACGTCAGAGCCTGGGGTGCAGTGCAGAGCGCAAGGATCAGGGTCCTTAATTCTCCAGGCAGAGCCTTAATCACTTTGCACCCTTCAAATACTTGCACTGGGCCTACTGTGTGACAGGGACTAGGAAAAGAGCAGAAAGCGAGGGGCCCACCTACCAGCCTCAGGGAGAAGCCCTGGGGCAGGGAGGAAGCACGCACCCACCCGCCTATTGCAGGTTATTAGGCCATCAATATTTACCCTCCCACAGCTCAGCTTCCCTGCCATAGAGAGGACAGATGATGCCCAGCTGGTCATGGCCCAGGCAGTGGGTAAGGACAGGGTTCCTAGGCATTCCCCCTATTTCCCCTCTAGAGGACCTGAGATGCTGTGATCCCACCCCTGCCTGTGGCCTGGCTGGATGCAGGACAGGCAGCGGAACTCACGGTTGCCGTAGCCCACAAGCAACACCGCATGGTCAATGAGCCAAGGGCTGCAGAGGGGCCGGAGAGGGCGGGAGATCCCGTGGCGGTAAAACTGGAGGTGGAGAAGGAGTAGGGGATCGACTCCAAGAAGAGGTCGGGGAGGTCAACAAGAGATGGGGCAGGGGCAGTGGGGCTAGGGCCTCACCTGCATGCCAAAGGCATTGATGGCCACGGAGATTGGGCCTCTCTTGGCCAGCCAGGCTGCCAGCTCTGAGATGGGAAGGGGTGGCATCAGTAGGCACCCAGGCCCCGGCCCCACCTGACCTCACCTCACCCTGCCCCTCACTCACTCTGCTCGTTCTGGCTCAGCTCCACGGAGTCATTGATGTAGACCTTGGCCTTCTCTGCTGAGAAGTTGCAGGACTGCATGTGACCCTGGTAGCTGTAGTCATCCTCTGTCTCCAGCCCTCCTGGGGAACGGTGGGGGTGAGTAGAGAAGGGCAGGCTCCCATTTGCCATTCACAGCCAGAAATGAACTAAGCCCTCTACGCGAGGTTTCACATTCCTCGTCCACCCCAGGCCACAGGCCATCCCCTCTGAAGAATGTCTTCATTCTAGAAATGACACATCTGAGGCTGGGAGAGATGGGGAGGAGGGACCAGTAGCCAGCAAGAAAAGTGGCAGAGACAGAACTCAACTCCAACTTCTGACTCCTCACCAAGAGCTCATCCCAGCAGTCTTTCACCCAGGCTGGAGTACAGTGGCACAAACATGCCTCACTACAGCCTCAACCTCCTGGGCTCAAGCGATCCTCCTGCCTCAGCCCCCCAAGTAGCTGAGACTACAGATGCAAGCCACCATGCCTGGCTAATGTCTTTAATTTTTTGTAGAGATGGGGTCTTGCTATGTTGCCCAACCTGGTCCTGAACTTCTGGCCTTAAGTGATCTTCCCAAGTTGGCCTCCCAAAGTGTTGGAATTACAGGCATGAGCCACCACGCCTGGCTGGGTCAGCATTAAGACCTGGACCCAGTTCTGTGTAACTCTCATGCTCATGTCTCCCCCCCATTATGAAGTAACTTCTTGTACAGGGAGAAGTGGCTCCGGTTGCCCCTCCTGACCCCATTAATGCATACCCAAATTCTTTATGGCCGAGTAGGCATTGGAGGGCAAGCCGCCCATGCAGGCCTTGTCCATCTTGTCACAGTCCAAGAGCTCTAGGAGACAGAAGGCTGGTCCCAAGAAGCCCTCCTGAGGGGCTAGGCTGGGGACAGAGGAGTAGAGCGAGATGCTCACCCTGTTCAGAGAGGGAGAGCAGGGTCCCCTGGTTGAGAAACCACTGGCCCTCCACATTGCCTGTGACTGAGAAGGCCCAGCAGGAGCCACACATGCCCTACAAGAGATGGGTGGAGTTGGAGTCAGAGCCGGGCCCCTTCGTCAGCCCCAGTGCAGTGCCCATGTC
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Task1_train_16121
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Here’s a variant in CTSF (cathepsin F) located on Chromosome 11. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Neuronal ceroid lipofuscinosis 13
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TGCTCACCTCCATTGCCCGCACCATCAATGAAGTGGAGAACCAGGTACTGACCCGAGACGCCAAGGGACTGAGCCAGGAGCAGCTCAACGAGTTCCGAGCATCCTTCAACCACTTTGACAGGGTCAGCAGGGGCCTGGCCCTGTGGGGTAAGACACTTGGGGGCTGGTGGAGGCTGGAGACCAAGCCTGATAACCACTCACCCCCTACAGAAGCAGAATGGGATGATGGAGCCTGATGACTTCCGAGCTTGCCTCATCTCCATGGGCTATGACCTGGTGAGAGCTCCCCAGCTCCTTCCCAGGAGTCCCAAAGTACCCCCTCCTCTGTGCTGATCACCTACTGTGCACCTCCCATCTTCACATACACCATCCCCTGCATCTTCACTACATCCACACAGGGGCTAGCAAGGCTCAGGGAGGTAAAACTCACTTGGACCCAGTTCTGTGTGGACCCAAAGTCTGAGCTTGCAACATTTTTACCTGTAGGGAAACAGCACTACAGAAACGGGTGTGGCCCTGGAAAAAAAATCAGGACCAGGGAGCAAATCTGCTTCCTGCTGTGGGTAGGATGCAGATTTCAGCCTACCATAAAGGACTTCCTACAGCCAGGGCTAAGGTCTCTGGAGGAAGGGAACTCCCTTGTTACTGGGGCTCTGCTAGCTGAGGTTGGACAGTCCCCAGGAGGGGACACTGGGAGCCCTCCTGGCTTTAGTGCTCATGGGCATAGTGCCTGGCCTCTATCCCTGCAGGGGGAAGTGGAGTTTGCTCGCATCATGACCATGGTGGACCCCAACGCAGCTGGGGTGGTGACCTTCCAGGCCTTCATAGACTTCATGACCCGAGAGACAGCCGAGACTGACACGACTGAGCAAGTTGTAGCTTCCTTCAAGATCTTGGCAGGAGACAAGGTGAGTCCCAGGCGGTGGAGGGGCTGGTGGGCTAGGGCAGGGCACGGGACCTGTGGGTCCTCAACGCCTCTTCTCCCCAGAACTACATCACCCCCGAGGAGCTGCGGCGCGAGCTCCCTGCCAAGCAGGCCGAGTACTGCATCCGCCGTATGGTGCCCTACAAGGGATCCGGGGCCCCGGCTGGAGCCCTGGACTACGTGGCCTTCTCCAGTGCCCTCTATGGGGAGAGCGACCTTTGACCCCAACCACTGAGGTTCTCTATGCAAGATGGAGAGAGGATGCACCCTGTGGCTGATCCCATCCGTCCCTCGGAGCAAGGGCCTAAGAGAAAAGCCAGCCAAGTGCTTCTGAATAAAGATCCCTCTCTGGGTCTCTCCCCATCTCCTTTTAGTTCCTGAAGCAGAAGCTGGCCCCTCAGGCTCCTGGGCAGGACCAGCTATCCCACCTTGACCCGCCAGGAGTCCCTGCCATCTCTCCTCACCCCCGGGGACTGAGCATTTATACCACACTCGGGACAAGGACACCTCTTTATTGCTGTTAGAAAAGGGTGGTTACAAGTTTCCTGGACATGGAGAGGGACACTATCCCTAAATCCAAGGGAACCAGAAAATTTATAGTATCAAACAGAGGAAAGCGGGGGCAGAACAGAGCTGGGCTTAAGATCAGAAAATTTTCTTCCTGCTCATTACCCAAGCCCAGAGTTCTTGCCCCAGCTTCAACTGCCAAGATACCACCCTTCACCCCGACATCCTCCTAAGCTACCACAATTCAACAAAGGTGCAGGTGCAGAACTTCAGGGTGGGAATGGGGTGCAGGGAAGCAGGGGCTGTGCCCCAGCCCAGTGCCCTCTGCTCACCCTGAGGTACCCAGTGCCTTTCCCTCTGCCAGCTGTACCTCCCGGGGAGGGGCCTGGACACATGTCAGGCTGGGGCAGCAGCCACTCTGATCAGCACCAGGTCCCGAGCTGGGGGCCCCTCTTCAGTCCACCACCGCCGAGCTGGCCATGGTGTTCACGCCACAGGCCCCGGACCCACGATGCAAGTAGTAGTAACCCTGGGGGAGAGGGGGAGCTGGTGAGGGCACCAGGGTAGGATGGCGGCTGGAGGGCCAGGGGCCAAGCCAGCAAGACTCACCTTCTCACCCCAGTCAGTGCCCCAGCTGTTCTTGATGGCCCAAAAGGGAACGTCAGAGCCTGGGGTGCAGTGCAGAGCGCAAGGATCAGGGTCCTTAATTCTCCAGGCAGAGCCTTAATCACTTTGCACCCTTCAAATACTTGCACTGGGCCTACTGTGTGACAGGGACTAGGAAAAGAGCAGAAAGCGAGGGGCCCACCTACCAGCCTCAGGGAGAAGCCCTGGGGCAGGGAGGAAGCACGCACCCACCCGCCTATTGCAGGTTATTAGGCCATCAATATTTACCCTCCCACAGCTCAGCTTCCCTGCCATAGAGAGGACAGATGATGCCCAGCTGGTCATGGCCCAGGCAGTGGGTAAGGACAGGGTTCCTAGGCATTCCCCCTATTTCCCCTCTAGAGGACCTGAGATGCTGTGATCCCACCCCTGCCTGTGGCCTGGCTGGATGCAGGACAGGCAGCGGAACTCACGGTTGCCGTAGCCCACAAGCAACACCGCATGGTCAATGAGCCAAGGGCTGCAGAGGGGCCGGAGAGGGCGGGAGATCCCGTGGCGGTAAAACTGGAGGTGGAGAAGGAGTAGGGGATCGACTCCAAGAAGAGGTCGGGGAGGTCAACAAGAGATGGGGCAGGGGCAGTGGGGCTAGGGCCTCACCTGCATGCCAAAGGCATTGATGGCCACGGAGATTGGGCCTCTCTTGGCCAGCCAGGCTGCCAGCTCTGAGATGGGAAGGGGTGGCATCAGTAGGCACCCAGGCCCCGGCCCCACCTGACCTCACCTCACCCTGCCCCTCACTCACTCTGCTCGTTCTGGCTCAGCTCCACGGAGTCATTGATGTAGACCTTGGCCTTCTCTGCTGAGAAGTTGCAGGACTGCATGTGACCCTGGTAGCTGTAGTCATCCTCTGTCTCCAGCCCTCCTGGGGAACGGTGGGGGTGAGTAGAGAAGGGCAGGCTCCCATTTGCCATTCACAGCCAGAAATGAACTAAGCCCTCTACGCGAGGTTTCACATTCCTCGTCCACCCCAGGCCACAGGCCATCCCCTCTGAAGAATGTCTTCATTCTAGAAATGACACATCTGAGGCTGGGAGAGATGGGGAGGAGGGACCAGTAGCCAGCAAGAAAAGTGGCAGAGACAGAACTCAACTCCAACTTCTGACTCCTCACCAAGAGCTCATCCCAGCAGTCTTTCACCCAGGCTGGAGTACAGTGGCACAAACATGCCTCACTACAGCCTCAACCTCCTGGGCTCAAGCGATCCTCCTGCCTCAGCCCCCCAAGTAGCTGAGACTACAGATGCAAGCCACCATGCCTGGCTAATGTCTTTAATTTTTTGTAGAGATGGGGTCTTGCTATGTTGCCCAACCTGGTCCTGAACTTCTGGCCTTAAGTGATCTTCCCAAGTTGGCCTCCCAAAGTGTTGGAATTACAGGCATGAGCCACCACGCCTGGCTGGGTCAGCATTAAGACCTGGACCCAGTTCTGTGTAACTCTCATGCTCATGTCTCCCCCCCATTATGAAGTAACTTCTTGTACAGGGAGAAGTGGCTCCGGTTGCCCCTCCTGACCCCATTAATGCATACCCAAATTCTTTATGGCCGAGTAGGCATTGGAGGGCAAGCCGCCCATGCAGGCCTTGTCCATCTTGTCACAGTCCAAGAGCTCTAGGAGACAGAAGGCTGGTCCCAAGAAGCCCTCCTGAGGGGCTAGGCTGGGGACAGAGGAGTAGAGCGAGATGCTCACCCTGTTCAGAGAGGGAGAGCAGGGTCCCCTGGTTGAGAAACCACTGGCCCTCCACATTGCCTGTGACTGAGAAGGCCCAGCAGGAGCCACACATGCCCTACAAGAGATGGGTGGAGTTGGAGTCAGAGCCGGGCCCCTTCGTCAGCCCCAGTGCAGTGCCCATGTCCCACCCTCACTTCCAGGGGTCCAACCTGGTCTTTGACTTTTGTGACAGCCCCCTTACTCCTCCAGTCCCATTCAGGTGGGGCGAGGTCACCCACAGACTTGGCTTGCTTCATCTTGTTGCCAGGCTCTTTCCTCAGGAGAGTATTC
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TGCTCACCTCCATTGCCCGCACCATCAATGAAGTGGAGAACCAGGTACTGACCCGAGACGCCAAGGGACTGAGCCAGGAGCAGCTCAACGAGTTCCGAGCATCCTTCAACCACTTTGACAGGGTCAGCAGGGGCCTGGCCCTGTGGGGTAAGACACTTGGGGGCTGGTGGAGGCTGGAGACCAAGCCTGATAACCACTCACCCCCTACAGAAGCAGAATGGGATGATGGAGCCTGATGACTTCCGAGCTTGCCTCATCTCCATGGGCTATGACCTGGTGAGAGCTCCCCAGCTCCTTCCCAGGAGTCCCAAAGTACCCCCTCCTCTGTGCTGATCACCTACTGTGCACCTCCCATCTTCACATACACCATCCCCTGCATCTTCACTACATCCACACAGGGGCTAGCAAGGCTCAGGGAGGTAAAACTCACTTGGACCCAGTTCTGTGTGGACCCAAAGTCTGAGCTTGCAACATTTTTACCTGTAGGGAAACAGCACTACAGAAACGGGTGTGGCCCTGGAAAAAAAATCAGGACCAGGGAGCAAATCTGCTTCCTGCTGTGGGTAGGATGCAGATTTCAGCCTACCATAAAGGACTTCCTACAGCCAGGGCTAAGGTCTCTGGAGGAAGGGAACTCCCTTGTTACTGGGGCTCTGCTAGCTGAGGTTGGACAGTCCCCAGGAGGGGACACTGGGAGCCCTCCTGGCTTTAGTGCTCATGGGCATAGTGCCTGGCCTCTATCCCTGCAGGGGGAAGTGGAGTTTGCTCGCATCATGACCATGGTGGACCCCAACGCAGCTGGGGTGGTGACCTTCCAGGCCTTCATAGACTTCATGACCCGAGAGACAGCCGAGACTGACACGACTGAGCAAGTTGTAGCTTCCTTCAAGATCTTGGCAGGAGACAAGGTGAGTCCCAGGCGGTGGAGGGGCTGGTGGGCTAGGGCAGGGCACGGGACCTGTGGGTCCTCAACGCCTCTTCTCCCCAGAACTACATCACCCCCGAGGAGCTGCGGCGCGAGCTCCCTGCCAAGCAGGCCGAGTACTGCATCCGCCGTATGGTGCCCTACAAGGGATCCGGGGCCCCGGCTGGAGCCCTGGACTACGTGGCCTTCTCCAGTGCCCTCTATGGGGAGAGCGACCTTTGACCCCAACCACTGAGGTTCTCTATGCAAGATGGAGAGAGGATGCACCCTGTGGCTGATCCCATCCGTCCCTCGGAGCAAGGGCCTAAGAGAAAAGCCAGCCAAGTGCTTCTGAATAAAGATCCCTCTCTGGGTCTCTCCCCATCTCCTTTTAGTTCCTGAAGCAGAAGCTGGCCCCTCAGGCTCCTGGGCAGGACCAGCTATCCCACCTTGACCCGCCAGGAGTCCCTGCCATCTCTCCTCACCCCCGGGGACTGAGCATTTATACCACACTCGGGACAAGGACACCTCTTTATTGCTGTTAGAAAAGGGTGGTTACAAGTTTCCTGGACATGGAGAGGGACACTATCCCTAAATCCAAGGGAACCAGAAAATTTATAGTATCAAACAGAGGAAAGCGGGGGCAGAACAGAGCTGGGCTTAAGATCAGAAAATTTTCTTCCTGCTCATTACCCAAGCCCAGAGTTCTTGCCCCAGCTTCAACTGCCAAGATACCACCCTTCACCCCGACATCCTCCTAAGCTACCACAATTCAACAAAGGTGCAGGTGCAGAACTTCAGGGTGGGAATGGGGTGCAGGGAAGCAGGGGCTGTGCCCCAGCCCAGTGCCCTCTGCTCACCCTGAGGTACCCAGTGCCTTTCCCTCTGCCAGCTGTACCTCCCGGGGAGGGGCCTGGACACATGTCAGGCTGGGGCAGCAGCCACTCTGATCAGCACCAGGTCCCGAGCTGGGGGCCCCTCTTCAGTCCACCACCGCCGAGCTGGCCATGGTGTTCACGCCACAGGCCCCGGACCCACGATGCAAGTAGTAGTAACCCTGGGGGAGAGGGGGAGCTGGTGAGGGCACCAGGGTAGGATGGCGGCTGGAGGGCCAGGGGCCAAGCCAGCAAGACTCACCTTCTCAGCCCAGTCAGTGCCCCAGCTGTTCTTGATGGCCCAAAAGGGAACGTCAGAGCCTGGGGTGCAGTGCAGAGCGCAAGGATCAGGGTCCTTAATTCTCCAGGCAGAGCCTTAATCACTTTGCACCCTTCAAATACTTGCACTGGGCCTACTGTGTGACAGGGACTAGGAAAAGAGCAGAAAGCGAGGGGCCCACCTACCAGCCTCAGGGAGAAGCCCTGGGGCAGGGAGGAAGCACGCACCCACCCGCCTATTGCAGGTTATTAGGCCATCAATATTTACCCTCCCACAGCTCAGCTTCCCTGCCATAGAGAGGACAGATGATGCCCAGCTGGTCATGGCCCAGGCAGTGGGTAAGGACAGGGTTCCTAGGCATTCCCCCTATTTCCCCTCTAGAGGACCTGAGATGCTGTGATCCCACCCCTGCCTGTGGCCTGGCTGGATGCAGGACAGGCAGCGGAACTCACGGTTGCCGTAGCCCACAAGCAACACCGCATGGTCAATGAGCCAAGGGCTGCAGAGGGGCCGGAGAGGGCGGGAGATCCCGTGGCGGTAAAACTGGAGGTGGAGAAGGAGTAGGGGATCGACTCCAAGAAGAGGTCGGGGAGGTCAACAAGAGATGGGGCAGGGGCAGTGGGGCTAGGGCCTCACCTGCATGCCAAAGGCATTGATGGCCACGGAGATTGGGCCTCTCTTGGCCAGCCAGGCTGCCAGCTCTGAGATGGGAAGGGGTGGCATCAGTAGGCACCCAGGCCCCGGCCCCACCTGACCTCACCTCACCCTGCCCCTCACTCACTCTGCTCGTTCTGGCTCAGCTCCACGGAGTCATTGATGTAGACCTTGGCCTTCTCTGCTGAGAAGTTGCAGGACTGCATGTGACCCTGGTAGCTGTAGTCATCCTCTGTCTCCAGCCCTCCTGGGGAACGGTGGGGGTGAGTAGAGAAGGGCAGGCTCCCATTTGCCATTCACAGCCAGAAATGAACTAAGCCCTCTACGCGAGGTTTCACATTCCTCGTCCACCCCAGGCCACAGGCCATCCCCTCTGAAGAATGTCTTCATTCTAGAAATGACACATCTGAGGCTGGGAGAGATGGGGAGGAGGGACCAGTAGCCAGCAAGAAAAGTGGCAGAGACAGAACTCAACTCCAACTTCTGACTCCTCACCAAGAGCTCATCCCAGCAGTCTTTCACCCAGGCTGGAGTACAGTGGCACAAACATGCCTCACTACAGCCTCAACCTCCTGGGCTCAAGCGATCCTCCTGCCTCAGCCCCCCAAGTAGCTGAGACTACAGATGCAAGCCACCATGCCTGGCTAATGTCTTTAATTTTTTGTAGAGATGGGGTCTTGCTATGTTGCCCAACCTGGTCCTGAACTTCTGGCCTTAAGTGATCTTCCCAAGTTGGCCTCCCAAAGTGTTGGAATTACAGGCATGAGCCACCACGCCTGGCTGGGTCAGCATTAAGACCTGGACCCAGTTCTGTGTAACTCTCATGCTCATGTCTCCCCCCCATTATGAAGTAACTTCTTGTACAGGGAGAAGTGGCTCCGGTTGCCCCTCCTGACCCCATTAATGCATACCCAAATTCTTTATGGCCGAGTAGGCATTGGAGGGCAAGCCGCCCATGCAGGCCTTGTCCATCTTGTCACAGTCCAAGAGCTCTAGGAGACAGAAGGCTGGTCCCAAGAAGCCCTCCTGAGGGGCTAGGCTGGGGACAGAGGAGTAGAGCGAGATGCTCACCCTGTTCAGAGAGGGAGAGCAGGGTCCCCTGGTTGAGAAACCACTGGCCCTCCACATTGCCTGTGACTGAGAAGGCCCAGCAGGAGCCACACATGCCCTACAAGAGATGGGTGGAGTTGGAGTCAGAGCCGGGCCCCTTCGTCAGCCCCAGTGCAGTGCCCATGTCCCACCCTCACTTCCAGGGGTCCAACCTGGTCTTTGACTTTTGTGACAGCCCCCTTACTCCTCCAGTCCCATTCAGGTGGGGCGAGGTCACCCACAGACTTGGCTTGCTTCATCTTGTTGCCAGGCTCTTTCCTCAGGAGAGTATTC
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Task1_train_16122
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A variant on Chromosome 11 in gene CTSF (cathepsin F) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Neuronal ceroid lipofuscinosis 13
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GGGAGCAAATCTGCTTCCTGCTGTGGGTAGGATGCAGATTTCAGCCTACCATAAAGGACTTCCTACAGCCAGGGCTAAGGTCTCTGGAGGAAGGGAACTCCCTTGTTACTGGGGCTCTGCTAGCTGAGGTTGGACAGTCCCCAGGAGGGGACACTGGGAGCCCTCCTGGCTTTAGTGCTCATGGGCATAGTGCCTGGCCTCTATCCCTGCAGGGGGAAGTGGAGTTTGCTCGCATCATGACCATGGTGGACCCCAACGCAGCTGGGGTGGTGACCTTCCAGGCCTTCATAGACTTCATGACCCGAGAGACAGCCGAGACTGACACGACTGAGCAAGTTGTAGCTTCCTTCAAGATCTTGGCAGGAGACAAGGTGAGTCCCAGGCGGTGGAGGGGCTGGTGGGCTAGGGCAGGGCACGGGACCTGTGGGTCCTCAACGCCTCTTCTCCCCAGAACTACATCACCCCCGAGGAGCTGCGGCGCGAGCTCCCTGCCAAGCAGGCCGAGTACTGCATCCGCCGTATGGTGCCCTACAAGGGATCCGGGGCCCCGGCTGGAGCCCTGGACTACGTGGCCTTCTCCAGTGCCCTCTATGGGGAGAGCGACCTTTGACCCCAACCACTGAGGTTCTCTATGCAAGATGGAGAGAGGATGCACCCTGTGGCTGATCCCATCCGTCCCTCGGAGCAAGGGCCTAAGAGAAAAGCCAGCCAAGTGCTTCTGAATAAAGATCCCTCTCTGGGTCTCTCCCCATCTCCTTTTAGTTCCTGAAGCAGAAGCTGGCCCCTCAGGCTCCTGGGCAGGACCAGCTATCCCACCTTGACCCGCCAGGAGTCCCTGCCATCTCTCCTCACCCCCGGGGACTGAGCATTTATACCACACTCGGGACAAGGACACCTCTTTATTGCTGTTAGAAAAGGGTGGTTACAAGTTTCCTGGACATGGAGAGGGACACTATCCCTAAATCCAAGGGAACCAGAAAATTTATAGTATCAAACAGAGGAAAGCGGGGGCAGAACAGAGCTGGGCTTAAGATCAGAAAATTTTCTTCCTGCTCATTACCCAAGCCCAGAGTTCTTGCCCCAGCTTCAACTGCCAAGATACCACCCTTCACCCCGACATCCTCCTAAGCTACCACAATTCAACAAAGGTGCAGGTGCAGAACTTCAGGGTGGGAATGGGGTGCAGGGAAGCAGGGGCTGTGCCCCAGCCCAGTGCCCTCTGCTCACCCTGAGGTACCCAGTGCCTTTCCCTCTGCCAGCTGTACCTCCCGGGGAGGGGCCTGGACACATGTCAGGCTGGGGCAGCAGCCACTCTGATCAGCACCAGGTCCCGAGCTGGGGGCCCCTCTTCAGTCCACCACCGCCGAGCTGGCCATGGTGTTCACGCCACAGGCCCCGGACCCACGATGCAAGTAGTAGTAACCCTGGGGGAGAGGGGGAGCTGGTGAGGGCACCAGGGTAGGATGGCGGCTGGAGGGCCAGGGGCCAAGCCAGCAAGACTCACCTTCTCACCCCAGTCAGTGCCCCAGCTGTTCTTGATGGCCCAAAAGGGAACGTCAGAGCCTGGGGTGCAGTGCAGAGCGCAAGGATCAGGGTCCTTAATTCTCCAGGCAGAGCCTTAATCACTTTGCACCCTTCAAATACTTGCACTGGGCCTACTGTGTGACAGGGACTAGGAAAAGAGCAGAAAGCGAGGGGCCCACCTACCAGCCTCAGGGAGAAGCCCTGGGGCAGGGAGGAAGCACGCACCCACCCGCCTATTGCAGGTTATTAGGCCATCAATATTTACCCTCCCACAGCTCAGCTTCCCTGCCATAGAGAGGACAGATGATGCCCAGCTGGTCATGGCCCAGGCAGTGGGTAAGGACAGGGTTCCTAGGCATTCCCCCTATTTCCCCTCTAGAGGACCTGAGATGCTGTGATCCCACCCCTGCCTGTGGCCTGGCTGGATGCAGGACAGGCAGCGGAACTCACGGTTGCCGTAGCCCACAAGCAACACCGCATGGTCAATGAGCCAAGGGCTGCAGAGGGGCCGGAGAGGGCGGGAGATCCCGTGGCGGTAAAACTGGAGGTGGAGAAGGAGTAGGGGATCGACTCCAAGAAGAGGTCGGGGAGGTCAACAAGAGATGGGGCAGGGGCAGTGGGGCTAGGGCCTCACCTGCATGCCAAAGGCATTGATGGCCACGGAGATTGGGCCTCTCTTGGCCAGCCAGGCTGCCAGCTCTGAGATGGGAAGGGGTGGCATCAGTAGGCACCCAGGCCCCGGCCCCACCTGACCTCACCTCACCCTGCCCCTCACTCACTCTGCTCGTTCTGGCTCAGCTCCACGGAGTCATTGATGTAGACCTTGGCCTTCTCTGCTGAGAAGTTGCAGGACTGCATGTGACCCTGGTAGCTGTAGTCATCCTCTGTCTCCAGCCCTCCTGGGGAACGGTGGGGGTGAGTAGAGAAGGGCAGGCTCCCATTTGCCATTCACAGCCAGAAATGAACTAAGCCCTCTACGCGAGGTTTCACATTCCTCGTCCACCCCAGGCCACAGGCCATCCCCTCTGAAGAATGTCTTCATTCTAGAAATGACACATCTGAGGCTGGGAGAGATGGGGAGGAGGGACCAGTAGCCAGCAAGAAAAGTGGCAGAGACAGAACTCAACTCCAACTTCTGACTCCTCACCAAGAGCTCATCCCAGCAGTCTTTCACCCAGGCTGGAGTACAGTGGCACAAACATGCCTCACTACAGCCTCAACCTCCTGGGCTCAAGCGATCCTCCTGCCTCAGCCCCCCAAGTAGCTGAGACTACAGATGCAAGCCACCATGCCTGGCTAATGTCTTTAATTTTTTGTAGAGATGGGGTCTTGCTATGTTGCCCAACCTGGTCCTGAACTTCTGGCCTTAAGTGATCTTCCCAAGTTGGCCTCCCAAAGTGTTGGAATTACAGGCATGAGCCACCACGCCTGGCTGGGTCAGCATTAAGACCTGGACCCAGTTCTGTGTAACTCTCATGCTCATGTCTCCCCCCCATTATGAAGTAACTTCTTGTACAGGGAGAAGTGGCTCCGGTTGCCCCTCCTGACCCCATTAATGCATACCCAAATTCTTTATGGCCGAGTAGGCATTGGAGGGCAAGCCGCCCATGCAGGCCTTGTCCATCTTGTCACAGTCCAAGAGCTCTAGGAGACAGAAGGCTGGTCCCAAGAAGCCCTCCTGAGGGGCTAGGCTGGGGACAGAGGAGTAGAGCGAGATGCTCACCCTGTTCAGAGAGGGAGAGCAGGGTCCCCTGGTTGAGAAACCACTGGCCCTCCACATTGCCTGTGACTGAGAAGGCCCAGCAGGAGCCACACATGCCCTACAAGAGATGGGTGGAGTTGGAGTCAGAGCCGGGCCCCTTCGTCAGCCCCAGTGCAGTGCCCATGTCCCACCCTCACTTCCAGGGGTCCAACCTGGTCTTTGACTTTTGTGACAGCCCCCTTACTCCTCCAGTCCCATTCAGGTGGGGCGAGGTCACCCACAGACTTGGCTTGCTTCATCTTGTTGCCAGGCTCTTTCCTCAGGAGAGTATTCAGGTAGATAGTGCGGAACTCCTCCTCTGCGGGCAAAGGTGGGCAGGGCATGGGGAGGAAGAGTGTTCTAAGCCAGACCTGACCAGAGGCCTTGCGAGCAAGGTCCTGTCTCTTCCTGGATCCATGAGGACTGTGGCCACTATCCCTACCTGTGAGATCACTGAACTTGGTGACTCCATACTGAGCTGTGCCACGGTCCAGGGCCTGGATCTTCTGTGCTCGCACCATGTTATTGACAAAGACGGACAGGCGCCACCGGGCTTCTGAGGACCAAGGAGCAGAAGAGGAGGGGTTCGACCCCAGGCAGATAAAAGGAAGGGCAATTGGGGCTAGCAGGCAGGGGTTTCCCCGGGGAGCAGGTAGGGGTGGGGGCCAGACATGCAAGTGATGGAGTGGGAGGTCTGATCAACTTTTAGGGCCAAACTGAAGTGATGACTTCCCAGGTGCAAAAGCAGTAAATGGGGTCTAAAGGACACCACCCACAAGAGGTGGTGGGGAAAGGCCATGTTGTCAAGGACTCTCCAGCACAAAAAATCCA
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GGGAGCAAATCTGCTTCCTGCTGTGGGTAGGATGCAGATTTCAGCCTACCATAAAGGACTTCCTACAGCCAGGGCTAAGGTCTCTGGAGGAAGGGAACTCCCTTGTTACTGGGGCTCTGCTAGCTGAGGTTGGACAGTCCCCAGGAGGGGACACTGGGAGCCCTCCTGGCTTTAGTGCTCATGGGCATAGTGCCTGGCCTCTATCCCTGCAGGGGGAAGTGGAGTTTGCTCGCATCATGACCATGGTGGACCCCAACGCAGCTGGGGTGGTGACCTTCCAGGCCTTCATAGACTTCATGACCCGAGAGACAGCCGAGACTGACACGACTGAGCAAGTTGTAGCTTCCTTCAAGATCTTGGCAGGAGACAAGGTGAGTCCCAGGCGGTGGAGGGGCTGGTGGGCTAGGGCAGGGCACGGGACCTGTGGGTCCTCAACGCCTCTTCTCCCCAGAACTACATCACCCCCGAGGAGCTGCGGCGCGAGCTCCCTGCCAAGCAGGCCGAGTACTGCATCCGCCGTATGGTGCCCTACAAGGGATCCGGGGCCCCGGCTGGAGCCCTGGACTACGTGGCCTTCTCCAGTGCCCTCTATGGGGAGAGCGACCTTTGACCCCAACCACTGAGGTTCTCTATGCAAGATGGAGAGAGGATGCACCCTGTGGCTGATCCCATCCGTCCCTCGGAGCAAGGGCCTAAGAGAAAAGCCAGCCAAGTGCTTCTGAATAAAGATCCCTCTCTGGGTCTCTCCCCATCTCCTTTTAGTTCCTGAAGCAGAAGCTGGCCCCTCAGGCTCCTGGGCAGGACCAGCTATCCCACCTTGACCCGCCAGGAGTCCCTGCCATCTCTCCTCACCCCCGGGGACTGAGCATTTATACCACACTCGGGACAAGGACACCTCTTTATTGCTGTTAGAAAAGGGTGGTTACAAGTTTCCTGGACATGGAGAGGGACACTATCCCTAAATCCAAGGGAACCAGAAAATTTATAGTATCAAACAGAGGAAAGCGGGGGCAGAACAGAGCTGGGCTTAAGATCAGAAAATTTTCTTCCTGCTCATTACCCAAGCCCAGAGTTCTTGCCCCAGCTTCAACTGCCAAGATACCACCCTTCACCCCGACATCCTCCTAAGCTACCACAATTCAACAAAGGTGCAGGTGCAGAACTTCAGGGTGGGAATGGGGTGCAGGGAAGCAGGGGCTGTGCCCCAGCCCAGTGCCCTCTGCTCACCCTGAGGTACCCAGTGCCTTTCCCTCTGCCAGCTGTACCTCCCGGGGAGGGGCCTGGACACATGTCAGGCTGGGGCAGCAGCCACTCTGATCAGCACCAGGTCCCGAGCTGGGGGCCCCTCTTCAGTCCACCACCGCCGAGCTGGCCATGGTGTTCACGCCACAGGCCCCGGACCCACGATGCAAGTAGTAGTAACCCTGGGGGAGAGGGGGAGCTGGTGAGGGCACCAGGGTAGGATGGCGGCTGGAGGGCCAGGGGCCAAGCCAGCAAGACTCACCTTCTCACCCCAGTCAGTGCCCCAGCTGTTCTTGATGGCCCAAAAGGGAACGTCAGAGCCTGGGGTGCAGTGCAGAGCGCAAGGATCAGGGTCCTTAATTCTCCAGGCAGAGCCTTAATCACTTTGCACCCTTCAAATACTTGCACTGGGCCTACTGTGTGACAGGGACTAGGAAAAGAGCAGAAAGCGAGGGGCCCACCTACCAGCCTCAGGGAGAAGCCCTGGGGCAGGGAGGAAGCACGCACCCACCCGCCTATTGCAGGTTATTAGGCCATCAATATTTACCCTCCCACAGCTCAGCTTCCCTGCCATAGAGAGGACAGATGATGCCCAGCTGGTCATGGCCCAGGCAGTGGGTAAGGACAGGGTTCCTAGGCATTCCCCCTATTTCCCCTCTAGAGGACCTGAGATGCTGTGATCCCACCCCTGCCTGTGGCCTGGCTGGATGCAGGACAGGCAGCGGAACTCACGGTTGCCGTAGCCCACAAGCAACACCGCATGGTCAATGAGCCAAGGGCTGCAGAGGGGCCGGAGAGGGCGGGAGGTCCCGTGGCGGTAAAACTGGAGGTGGAGAAGGAGTAGGGGATCGACTCCAAGAAGAGGTCGGGGAGGTCAACAAGAGATGGGGCAGGGGCAGTGGGGCTAGGGCCTCACCTGCATGCCAAAGGCATTGATGGCCACGGAGATTGGGCCTCTCTTGGCCAGCCAGGCTGCCAGCTCTGAGATGGGAAGGGGTGGCATCAGTAGGCACCCAGGCCCCGGCCCCACCTGACCTCACCTCACCCTGCCCCTCACTCACTCTGCTCGTTCTGGCTCAGCTCCACGGAGTCATTGATGTAGACCTTGGCCTTCTCTGCTGAGAAGTTGCAGGACTGCATGTGACCCTGGTAGCTGTAGTCATCCTCTGTCTCCAGCCCTCCTGGGGAACGGTGGGGGTGAGTAGAGAAGGGCAGGCTCCCATTTGCCATTCACAGCCAGAAATGAACTAAGCCCTCTACGCGAGGTTTCACATTCCTCGTCCACCCCAGGCCACAGGCCATCCCCTCTGAAGAATGTCTTCATTCTAGAAATGACACATCTGAGGCTGGGAGAGATGGGGAGGAGGGACCAGTAGCCAGCAAGAAAAGTGGCAGAGACAGAACTCAACTCCAACTTCTGACTCCTCACCAAGAGCTCATCCCAGCAGTCTTTCACCCAGGCTGGAGTACAGTGGCACAAACATGCCTCACTACAGCCTCAACCTCCTGGGCTCAAGCGATCCTCCTGCCTCAGCCCCCCAAGTAGCTGAGACTACAGATGCAAGCCACCATGCCTGGCTAATGTCTTTAATTTTTTGTAGAGATGGGGTCTTGCTATGTTGCCCAACCTGGTCCTGAACTTCTGGCCTTAAGTGATCTTCCCAAGTTGGCCTCCCAAAGTGTTGGAATTACAGGCATGAGCCACCACGCCTGGCTGGGTCAGCATTAAGACCTGGACCCAGTTCTGTGTAACTCTCATGCTCATGTCTCCCCCCCATTATGAAGTAACTTCTTGTACAGGGAGAAGTGGCTCCGGTTGCCCCTCCTGACCCCATTAATGCATACCCAAATTCTTTATGGCCGAGTAGGCATTGGAGGGCAAGCCGCCCATGCAGGCCTTGTCCATCTTGTCACAGTCCAAGAGCTCTAGGAGACAGAAGGCTGGTCCCAAGAAGCCCTCCTGAGGGGCTAGGCTGGGGACAGAGGAGTAGAGCGAGATGCTCACCCTGTTCAGAGAGGGAGAGCAGGGTCCCCTGGTTGAGAAACCACTGGCCCTCCACATTGCCTGTGACTGAGAAGGCCCAGCAGGAGCCACACATGCCCTACAAGAGATGGGTGGAGTTGGAGTCAGAGCCGGGCCCCTTCGTCAGCCCCAGTGCAGTGCCCATGTCCCACCCTCACTTCCAGGGGTCCAACCTGGTCTTTGACTTTTGTGACAGCCCCCTTACTCCTCCAGTCCCATTCAGGTGGGGCGAGGTCACCCACAGACTTGGCTTGCTTCATCTTGTTGCCAGGCTCTTTCCTCAGGAGAGTATTCAGGTAGATAGTGCGGAACTCCTCCTCTGCGGGCAAAGGTGGGCAGGGCATGGGGAGGAAGAGTGTTCTAAGCCAGACCTGACCAGAGGCCTTGCGAGCAAGGTCCTGTCTCTTCCTGGATCCATGAGGACTGTGGCCACTATCCCTACCTGTGAGATCACTGAACTTGGTGACTCCATACTGAGCTGTGCCACGGTCCAGGGCCTGGATCTTCTGTGCTCGCACCATGTTATTGACAAAGACGGACAGGCGCCACCGGGCTTCTGAGGACCAAGGAGCAGAAGAGGAGGGGTTCGACCCCAGGCAGATAAAAGGAAGGGCAATTGGGGCTAGCAGGCAGGGGTTTCCCCGGGGAGCAGGTAGGGGTGGGGGCCAGACATGCAAGTGATGGAGTGGGAGGTCTGATCAACTTTTAGGGCCAAACTGAAGTGATGACTTCCCAGGTGCAAAAGCAGTAAATGGGGTCTAAAGGACACCACCCACAAGAGGTGGTGGGGAAAGGCCATGTTGTCAAGGACTCTCCAGCACAAAAAATCCA
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Task1_train_16123
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With a mutation on Chromosome 11 in gene CTSF (cathepsin F), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Neuronal ceroid lipofuscinosis 13
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GCCCCAGCCCAGTGCCCTCTGCTCACCCTGAGGTACCCAGTGCCTTTCCCTCTGCCAGCTGTACCTCCCGGGGAGGGGCCTGGACACATGTCAGGCTGGGGCAGCAGCCACTCTGATCAGCACCAGGTCCCGAGCTGGGGGCCCCTCTTCAGTCCACCACCGCCGAGCTGGCCATGGTGTTCACGCCACAGGCCCCGGACCCACGATGCAAGTAGTAGTAACCCTGGGGGAGAGGGGGAGCTGGTGAGGGCACCAGGGTAGGATGGCGGCTGGAGGGCCAGGGGCCAAGCCAGCAAGACTCACCTTCTCACCCCAGTCAGTGCCCCAGCTGTTCTTGATGGCCCAAAAGGGAACGTCAGAGCCTGGGGTGCAGTGCAGAGCGCAAGGATCAGGGTCCTTAATTCTCCAGGCAGAGCCTTAATCACTTTGCACCCTTCAAATACTTGCACTGGGCCTACTGTGTGACAGGGACTAGGAAAAGAGCAGAAAGCGAGGGGCCCACCTACCAGCCTCAGGGAGAAGCCCTGGGGCAGGGAGGAAGCACGCACCCACCCGCCTATTGCAGGTTATTAGGCCATCAATATTTACCCTCCCACAGCTCAGCTTCCCTGCCATAGAGAGGACAGATGATGCCCAGCTGGTCATGGCCCAGGCAGTGGGTAAGGACAGGGTTCCTAGGCATTCCCCCTATTTCCCCTCTAGAGGACCTGAGATGCTGTGATCCCACCCCTGCCTGTGGCCTGGCTGGATGCAGGACAGGCAGCGGAACTCACGGTTGCCGTAGCCCACAAGCAACACCGCATGGTCAATGAGCCAAGGGCTGCAGAGGGGCCGGAGAGGGCGGGAGATCCCGTGGCGGTAAAACTGGAGGTGGAGAAGGAGTAGGGGATCGACTCCAAGAAGAGGTCGGGGAGGTCAACAAGAGATGGGGCAGGGGCAGTGGGGCTAGGGCCTCACCTGCATGCCAAAGGCATTGATGGCCACGGAGATTGGGCCTCTCTTGGCCAGCCAGGCTGCCAGCTCTGAGATGGGAAGGGGTGGCATCAGTAGGCACCCAGGCCCCGGCCCCACCTGACCTCACCTCACCCTGCCCCTCACTCACTCTGCTCGTTCTGGCTCAGCTCCACGGAGTCATTGATGTAGACCTTGGCCTTCTCTGCTGAGAAGTTGCAGGACTGCATGTGACCCTGGTAGCTGTAGTCATCCTCTGTCTCCAGCCCTCCTGGGGAACGGTGGGGGTGAGTAGAGAAGGGCAGGCTCCCATTTGCCATTCACAGCCAGAAATGAACTAAGCCCTCTACGCGAGGTTTCACATTCCTCGTCCACCCCAGGCCACAGGCCATCCCCTCTGAAGAATGTCTTCATTCTAGAAATGACACATCTGAGGCTGGGAGAGATGGGGAGGAGGGACCAGTAGCCAGCAAGAAAAGTGGCAGAGACAGAACTCAACTCCAACTTCTGACTCCTCACCAAGAGCTCATCCCAGCAGTCTTTCACCCAGGCTGGAGTACAGTGGCACAAACATGCCTCACTACAGCCTCAACCTCCTGGGCTCAAGCGATCCTCCTGCCTCAGCCCCCCAAGTAGCTGAGACTACAGATGCAAGCCACCATGCCTGGCTAATGTCTTTAATTTTTTGTAGAGATGGGGTCTTGCTATGTTGCCCAACCTGGTCCTGAACTTCTGGCCTTAAGTGATCTTCCCAAGTTGGCCTCCCAAAGTGTTGGAATTACAGGCATGAGCCACCACGCCTGGCTGGGTCAGCATTAAGACCTGGACCCAGTTCTGTGTAACTCTCATGCTCATGTCTCCCCCCCATTATGAAGTAACTTCTTGTACAGGGAGAAGTGGCTCCGGTTGCCCCTCCTGACCCCATTAATGCATACCCAAATTCTTTATGGCCGAGTAGGCATTGGAGGGCAAGCCGCCCATGCAGGCCTTGTCCATCTTGTCACAGTCCAAGAGCTCTAGGAGACAGAAGGCTGGTCCCAAGAAGCCCTCCTGAGGGGCTAGGCTGGGGACAGAGGAGTAGAGCGAGATGCTCACCCTGTTCAGAGAGGGAGAGCAGGGTCCCCTGGTTGAGAAACCACTGGCCCTCCACATTGCCTGTGACTGAGAAGGCCCAGCAGGAGCCACACATGCCCTACAAGAGATGGGTGGAGTTGGAGTCAGAGCCGGGCCCCTTCGTCAGCCCCAGTGCAGTGCCCATGTCCCACCCTCACTTCCAGGGGTCCAACCTGGTCTTTGACTTTTGTGACAGCCCCCTTACTCCTCCAGTCCCATTCAGGTGGGGCGAGGTCACCCACAGACTTGGCTTGCTTCATCTTGTTGCCAGGCTCTTTCCTCAGGAGAGTATTCAGGTAGATAGTGCGGAACTCCTCCTCTGCGGGCAAAGGTGGGCAGGGCATGGGGAGGAAGAGTGTTCTAAGCCAGACCTGACCAGAGGCCTTGCGAGCAAGGTCCTGTCTCTTCCTGGATCCATGAGGACTGTGGCCACTATCCCTACCTGTGAGATCACTGAACTTGGTGACTCCATACTGAGCTGTGCCACGGTCCAGGGCCTGGATCTTCTGTGCTCGCACCATGTTATTGACAAAGACGGACAGGCGCCACCGGGCTTCTGAGGACCAAGGAGCAGAAGAGGAGGGGTTCGACCCCAGGCAGATAAAAGGAAGGGCAATTGGGGCTAGCAGGCAGGGGTTTCCCCGGGGAGCAGGTAGGGGTGGGGGCCAGACATGCAAGTGATGGAGTGGGAGGTCTGATCAACTTTTAGGGCCAAACTGAAGTGATGACTTCCCAGGTGCAAAAGCAGTAAATGGGGTCTAAAGGACACCACCCACAAGAGGTGGTGGGGAAAGGCCATGTTGTCAAGGACTCTCCAGCACAAAAAATCCAGCCTCTGCCCCATCCCACCCTGCCAGAGTGATGGAGATGCAGAGCTTCTTTTTTTTTTTTTTGAGACAGAGTTTTCGCTTGTCACCCATGCTGGAGTGCAGTGGCACAATCTTTGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGTATACAGGTGTGCGCCACCACACCTGGCTAATTTTTGTACTTTTTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTACTGCGATTACAGAGGTGAGCCACCACGCCCGGCCAAGACCCATGGCTTCTGAGCGGGAAGATAAGGTAGGAGAAGGGGCCAGGTACTCAGGGTGGCTGCCAGGCTGGGAAGGCTTAGGGAGAGCTCAGGAATTATGGGGTCCTTGAACAGGTACACTGCCTCTTGTCTTTCTCCTCCCACACACCAAGGTGCCAAGTTGGGGGGAAAGTCCTGTTCTGATAGGAACAGGTACAGCCAAGGCTGGGTCCTCACCTTCCTTTGACTCATATGTCCGGTTATAGGTAATGACAAAGTTCTTGAAGATTGAAGCCATCTTCACAGGCAAGTCCTGGATAGGCAGACCAGTCTTTAGGCTGACCAGAGAAACCCACTCCAGAGGGAAGGGAGAAGGGTGATGAGGCAGCGGCTGGCTCCTCAAGCTGAGGGCTCCTCAAGCTGAGGGCTCCTCACCTGGGACAGGGGATCCTCATTCAACAGGGAAATGACTGAGCTGAAAGTCTCGTTTCTGTTGTCTGGATGGTTTTGGGACAGAGAAGAAATCATGGCTGAGCCCTGAGTGAAGGCTGACTTGGGCTCCCCAGCACCTGGAACCTTGGTGTCCACTGGGCCACAGTCCTTCCGCAGCAGCACGTGTCTTCCGAGCTCATCCAGGACTTGGAAGCTGCAGAGCTGGAGGGAGAGGAAGAAGCTGCTCTGGGGGCCTGGATCTGGATCTGGGGAGCAAGATCTGGCCAAGATGGAGCTGGAGGCTCCTCAGATGAGAGCCACCCCTAAGGCAATCACCCCATCACAGTGGACAGTGAGGCACGGCCTGCACCGGGGCATCCTCCCCTTCATAGCATCTTGGTTTCCAGCCCTCGGGGCCTGGGAAGTGGCTCAAGGTGGGG
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GCCCCAGCCCAGTGCCCTCTGCTCACCCTGAGGTACCCAGTGCCTTTCCCTCTGCCAGCTGTACCTCCCGGGGAGGGGCCTGGACACATGTCAGGCTGGGGCAGCAGCCACTCTGATCAGCACCAGGTCCCGAGCTGGGGGCCCCTCTTCAGTCCACCACCGCCGAGCTGGCCATGGTGTTCACGCCACAGGCCCCGGACCCACGATGCAAGTAGTAGTAACCCTGGGGGAGAGGGGGAGCTGGTGAGGGCACCAGGGTAGGATGGCGGCTGGAGGGCCAGGGGCCAAGCCAGCAAGACTCACCTTCTCACCCCAGTCAGTGCCCCAGCTGTTCTTGATGGCCCAAAAGGGAACGTCAGAGCCTGGGGTGCAGTGCAGAGCGCAAGGATCAGGGTCCTTAATTCTCCAGGCAGAGCCTTAATCACTTTGCACCCTTCAAATACTTGCACTGGGCCTACTGTGTGACAGGGACTAGGAAAAGAGCAGAAAGCGAGGGGCCCACCTACCAGCCTCAGGGAGAAGCCCTGGGGCAGGGAGGAAGCACGCACCCACCCGCCTATTGCAGGTTATTAGGCCATCAATATTTACCCTCCCACAGCTCAGCTTCCCTGCCATAGAGAGGACAGATGATGCCCAGCTGGTCATGGCCCAGGCAGTGGGTAAGGACAGGGTTCCTAGGCATTCCCCCTATTTCCCCTCTAGAGGACCTGAGATGCTGTGATCCCACCCCTGCCTGTGGCCTGGCTGGATGCAGGACAGGCAGCGGAACTCACGGTTGCCGTAGCCCACAAGCAACACCGCATGGTCAATGAGCCAAGGGCTGCAGAGGGGCCGGAGAGGGCGGGAGATCCCGTGGCGGTAAAACTGGAGGTGGAGAAGGAGTAGGGGATCGACTCCAAGAAGAGGTCGGGGAGGTCAACAAGAGATGGGGCAGGGGCAGTGGGGCTAGGGCCTCACCTGCATGCCAAAGGCATTGATGGCCACGGAGATTGGGCCTCTCTTGGCCAGCCAGGCTGCCAGCTCTGAGATGGGAAGGGGTGGCATCAGTAGGCACCCAGGCCCCGGCCCCACCTGACCTCACCTCACCCTGCCCCTCACTCACTCTGCTCGTTCTGGCTCAGCTCCACGGAGTCATTGATGTAGACCTTGGCCTTCTCTGCTGAGAAGTTGCAGGACTGCATGTGACCCTGGTAGCTGTAGTCATCCTCTGTCTCCAGCCCTCCTGGGGAACGGTGGGGGTGAGTAGAGAAGGGCAGGCTCCCATTTGCCATTCACAGCCAGAAATGAACTAAGCCCTCTACGCGAGGTTTCACATTCCTCGTCCACCCCAGGCCACAGGCCATCCCCTCTGAAGAATGTCTTCATTCTAGAAATGACACATCTGAGGCTGGGAGAGATGGGGAGGAGGGACCAGTAGCCAGCAAGAAAAGTGGCAGAGACAGAACTCAACTCCAACTTCTGACTCCTCACCAAGAGCTCATCCCAGCAGTCTTTCACCCAGGCTGGAGTACAGTGGCACAAACATGCCTCACTACAGCCTCAACCTCCTGGGCTCAAGCGATCCTCCTGCCTCAGCCCCCCAAGTAGCTGAGACTACAGATGCAAGCCACCATGCCTGGCTAATGTCTTTAATTTTTTGTAGAGATGGGGTCTTGCTATGTTGCCCAACCTGGTCCTGAACTTCTGGCCTTAAGTGATCTTCCCAAGTTGGCCTCCCAAAGTGTTGGAATTACAGGCATGAGCCACCACGCCTGGCTGGGTCAGCATTAAGACCTGGACCCAGTTCTGTGTAACTCTCATGCTCATGTCTCCCCCCCATTATGAAGTAACTTCTTGTACAGGGAGAAGTGGCTCCGGTTGCCCCTCCTGACCCCATTAATGCATACCCAAATTCTTTATGGCCGAGTAGGCATTGGAGGGCAAGCCGCCCATGCAGGCCTTGTCCATCTTGTCACAGTCCAAGAGCTCTAGGAGACAGAAGGCTGGTCCCAAGAAGCCCTCCTGAGGGGCTAGGCTGGGGACAGAGGAGTAGAGCGAGATGCTCACCCCGTTCAGAGAGGGAGAGCAGGGTCCCCTGGTTGAGAAACCACTGGCCCTCCACATTGCCTGTGACTGAGAAGGCCCAGCAGGAGCCACACATGCCCTACAAGAGATGGGTGGAGTTGGAGTCAGAGCCGGGCCCCTTCGTCAGCCCCAGTGCAGTGCCCATGTCCCACCCTCACTTCCAGGGGTCCAACCTGGTCTTTGACTTTTGTGACAGCCCCCTTACTCCTCCAGTCCCATTCAGGTGGGGCGAGGTCACCCACAGACTTGGCTTGCTTCATCTTGTTGCCAGGCTCTTTCCTCAGGAGAGTATTCAGGTAGATAGTGCGGAACTCCTCCTCTGCGGGCAAAGGTGGGCAGGGCATGGGGAGGAAGAGTGTTCTAAGCCAGACCTGACCAGAGGCCTTGCGAGCAAGGTCCTGTCTCTTCCTGGATCCATGAGGACTGTGGCCACTATCCCTACCTGTGAGATCACTGAACTTGGTGACTCCATACTGAGCTGTGCCACGGTCCAGGGCCTGGATCTTCTGTGCTCGCACCATGTTATTGACAAAGACGGACAGGCGCCACCGGGCTTCTGAGGACCAAGGAGCAGAAGAGGAGGGGTTCGACCCCAGGCAGATAAAAGGAAGGGCAATTGGGGCTAGCAGGCAGGGGTTTCCCCGGGGAGCAGGTAGGGGTGGGGGCCAGACATGCAAGTGATGGAGTGGGAGGTCTGATCAACTTTTAGGGCCAAACTGAAGTGATGACTTCCCAGGTGCAAAAGCAGTAAATGGGGTCTAAAGGACACCACCCACAAGAGGTGGTGGGGAAAGGCCATGTTGTCAAGGACTCTCCAGCACAAAAAATCCAGCCTCTGCCCCATCCCACCCTGCCAGAGTGATGGAGATGCAGAGCTTCTTTTTTTTTTTTTTGAGACAGAGTTTTCGCTTGTCACCCATGCTGGAGTGCAGTGGCACAATCTTTGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGTATACAGGTGTGCGCCACCACACCTGGCTAATTTTTGTACTTTTTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTACTGCGATTACAGAGGTGAGCCACCACGCCCGGCCAAGACCCATGGCTTCTGAGCGGGAAGATAAGGTAGGAGAAGGGGCCAGGTACTCAGGGTGGCTGCCAGGCTGGGAAGGCTTAGGGAGAGCTCAGGAATTATGGGGTCCTTGAACAGGTACACTGCCTCTTGTCTTTCTCCTCCCACACACCAAGGTGCCAAGTTGGGGGGAAAGTCCTGTTCTGATAGGAACAGGTACAGCCAAGGCTGGGTCCTCACCTTCCTTTGACTCATATGTCCGGTTATAGGTAATGACAAAGTTCTTGAAGATTGAAGCCATCTTCACAGGCAAGTCCTGGATAGGCAGACCAGTCTTTAGGCTGACCAGAGAAACCCACTCCAGAGGGAAGGGAGAAGGGTGATGAGGCAGCGGCTGGCTCCTCAAGCTGAGGGCTCCTCAAGCTGAGGGCTCCTCACCTGGGACAGGGGATCCTCATTCAACAGGGAAATGACTGAGCTGAAAGTCTCGTTTCTGTTGTCTGGATGGTTTTGGGACAGAGAAGAAATCATGGCTGAGCCCTGAGTGAAGGCTGACTTGGGCTCCCCAGCACCTGGAACCTTGGTGTCCACTGGGCCACAGTCCTTCCGCAGCAGCACGTGTCTTCCGAGCTCATCCAGGACTTGGAAGCTGCAGAGCTGGAGGGAGAGGAAGAAGCTGCTCTGGGGGCCTGGATCTGGATCTGGGGAGCAAGATCTGGCCAAGATGGAGCTGGAGGCTCCTCAGATGAGAGCCACCCCTAAGGCAATCACCCCATCACAGTGGACAGTGAGGCACGGCCTGCACCGGGGCATCCTCCCCTTCATAGCATCTTGGTTTCCAGCCCTCGGGGCCTGGGAAGTGGCTCAAGGTGGGG
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Task1_train_16124
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This sequence change occurs on Chromosome 11, altering CTSF (cathepsin F). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; CTSF-related disorder
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AAGCGAGGGGCCCACCTACCAGCCTCAGGGAGAAGCCCTGGGGCAGGGAGGAAGCACGCACCCACCCGCCTATTGCAGGTTATTAGGCCATCAATATTTACCCTCCCACAGCTCAGCTTCCCTGCCATAGAGAGGACAGATGATGCCCAGCTGGTCATGGCCCAGGCAGTGGGTAAGGACAGGGTTCCTAGGCATTCCCCCTATTTCCCCTCTAGAGGACCTGAGATGCTGTGATCCCACCCCTGCCTGTGGCCTGGCTGGATGCAGGACAGGCAGCGGAACTCACGGTTGCCGTAGCCCACAAGCAACACCGCATGGTCAATGAGCCAAGGGCTGCAGAGGGGCCGGAGAGGGCGGGAGATCCCGTGGCGGTAAAACTGGAGGTGGAGAAGGAGTAGGGGATCGACTCCAAGAAGAGGTCGGGGAGGTCAACAAGAGATGGGGCAGGGGCAGTGGGGCTAGGGCCTCACCTGCATGCCAAAGGCATTGATGGCCACGGAGATTGGGCCTCTCTTGGCCAGCCAGGCTGCCAGCTCTGAGATGGGAAGGGGTGGCATCAGTAGGCACCCAGGCCCCGGCCCCACCTGACCTCACCTCACCCTGCCCCTCACTCACTCTGCTCGTTCTGGCTCAGCTCCACGGAGTCATTGATGTAGACCTTGGCCTTCTCTGCTGAGAAGTTGCAGGACTGCATGTGACCCTGGTAGCTGTAGTCATCCTCTGTCTCCAGCCCTCCTGGGGAACGGTGGGGGTGAGTAGAGAAGGGCAGGCTCCCATTTGCCATTCACAGCCAGAAATGAACTAAGCCCTCTACGCGAGGTTTCACATTCCTCGTCCACCCCAGGCCACAGGCCATCCCCTCTGAAGAATGTCTTCATTCTAGAAATGACACATCTGAGGCTGGGAGAGATGGGGAGGAGGGACCAGTAGCCAGCAAGAAAAGTGGCAGAGACAGAACTCAACTCCAACTTCTGACTCCTCACCAAGAGCTCATCCCAGCAGTCTTTCACCCAGGCTGGAGTACAGTGGCACAAACATGCCTCACTACAGCCTCAACCTCCTGGGCTCAAGCGATCCTCCTGCCTCAGCCCCCCAAGTAGCTGAGACTACAGATGCAAGCCACCATGCCTGGCTAATGTCTTTAATTTTTTGTAGAGATGGGGTCTTGCTATGTTGCCCAACCTGGTCCTGAACTTCTGGCCTTAAGTGATCTTCCCAAGTTGGCCTCCCAAAGTGTTGGAATTACAGGCATGAGCCACCACGCCTGGCTGGGTCAGCATTAAGACCTGGACCCAGTTCTGTGTAACTCTCATGCTCATGTCTCCCCCCCATTATGAAGTAACTTCTTGTACAGGGAGAAGTGGCTCCGGTTGCCCCTCCTGACCCCATTAATGCATACCCAAATTCTTTATGGCCGAGTAGGCATTGGAGGGCAAGCCGCCCATGCAGGCCTTGTCCATCTTGTCACAGTCCAAGAGCTCTAGGAGACAGAAGGCTGGTCCCAAGAAGCCCTCCTGAGGGGCTAGGCTGGGGACAGAGGAGTAGAGCGAGATGCTCACCCTGTTCAGAGAGGGAGAGCAGGGTCCCCTGGTTGAGAAACCACTGGCCCTCCACATTGCCTGTGACTGAGAAGGCCCAGCAGGAGCCACACATGCCCTACAAGAGATGGGTGGAGTTGGAGTCAGAGCCGGGCCCCTTCGTCAGCCCCAGTGCAGTGCCCATGTCCCACCCTCACTTCCAGGGGTCCAACCTGGTCTTTGACTTTTGTGACAGCCCCCTTACTCCTCCAGTCCCATTCAGGTGGGGCGAGGTCACCCACAGACTTGGCTTGCTTCATCTTGTTGCCAGGCTCTTTCCTCAGGAGAGTATTCAGGTAGATAGTGCGGAACTCCTCCTCTGCGGGCAAAGGTGGGCAGGGCATGGGGAGGAAGAGTGTTCTAAGCCAGACCTGACCAGAGGCCTTGCGAGCAAGGTCCTGTCTCTTCCTGGATCCATGAGGACTGTGGCCACTATCCCTACCTGTGAGATCACTGAACTTGGTGACTCCATACTGAGCTGTGCCACGGTCCAGGGCCTGGATCTTCTGTGCTCGCACCATGTTATTGACAAAGACGGACAGGCGCCACCGGGCTTCTGAGGACCAAGGAGCAGAAGAGGAGGGGTTCGACCCCAGGCAGATAAAAGGAAGGGCAATTGGGGCTAGCAGGCAGGGGTTTCCCCGGGGAGCAGGTAGGGGTGGGGGCCAGACATGCAAGTGATGGAGTGGGAGGTCTGATCAACTTTTAGGGCCAAACTGAAGTGATGACTTCCCAGGTGCAAAAGCAGTAAATGGGGTCTAAAGGACACCACCCACAAGAGGTGGTGGGGAAAGGCCATGTTGTCAAGGACTCTCCAGCACAAAAAATCCAGCCTCTGCCCCATCCCACCCTGCCAGAGTGATGGAGATGCAGAGCTTCTTTTTTTTTTTTTTGAGACAGAGTTTTCGCTTGTCACCCATGCTGGAGTGCAGTGGCACAATCTTTGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGTATACAGGTGTGCGCCACCACACCTGGCTAATTTTTGTACTTTTTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTACTGCGATTACAGAGGTGAGCCACCACGCCCGGCCAAGACCCATGGCTTCTGAGCGGGAAGATAAGGTAGGAGAAGGGGCCAGGTACTCAGGGTGGCTGCCAGGCTGGGAAGGCTTAGGGAGAGCTCAGGAATTATGGGGTCCTTGAACAGGTACACTGCCTCTTGTCTTTCTCCTCCCACACACCAAGGTGCCAAGTTGGGGGGAAAGTCCTGTTCTGATAGGAACAGGTACAGCCAAGGCTGGGTCCTCACCTTCCTTTGACTCATATGTCCGGTTATAGGTAATGACAAAGTTCTTGAAGATTGAAGCCATCTTCACAGGCAAGTCCTGGATAGGCAGACCAGTCTTTAGGCTGACCAGAGAAACCCACTCCAGAGGGAAGGGAGAAGGGTGATGAGGCAGCGGCTGGCTCCTCAAGCTGAGGGCTCCTCAAGCTGAGGGCTCCTCACCTGGGACAGGGGATCCTCATTCAACAGGGAAATGACTGAGCTGAAAGTCTCGTTTCTGTTGTCTGGATGGTTTTGGGACAGAGAAGAAATCATGGCTGAGCCCTGAGTGAAGGCTGACTTGGGCTCCCCAGCACCTGGAACCTTGGTGTCCACTGGGCCACAGTCCTTCCGCAGCAGCACGTGTCTTCCGAGCTCATCCAGGACTTGGAAGCTGCAGAGCTGGAGGGAGAGGAAGAAGCTGCTCTGGGGGCCTGGATCTGGATCTGGGGAGCAAGATCTGGCCAAGATGGAGCTGGAGGCTCCTCAGATGAGAGCCACCCCTAAGGCAATCACCCCATCACAGTGGACAGTGAGGCACGGCCTGCACCGGGGCATCCTCCCCTTCATAGCATCTTGGTTTCCAGCCCTCGGGGCCTGGGAAGTGGCTCAAGGTGGGGCAGCAGCTACCTCAGATCCCTGCGTCTTGACCTGACCCGTCATCATCCAACTGCTGCTTTACTCGGCCTCGGGGCGGGGAACCCCAAGAGCCTCATCACTCACCAGGGTTTTCTTGGACACGGGGAGCCGGCACACCATGGGGTCGTTGCAGGGTGGCTCCTCCAGGGTGGCCTCCAGGGAGTACAGCGACCCCTGACCCGCCTGGAGAGAGGAGTAGGTGAGGCGGGCACAGTCGGCCCTTGACGGCGCCCAAGGCCCCGCCCGTGCGGCGCTGCCCATTCCCCATCACCAGAGATCGGTTCGTCCAGCGGGCAGGCCCCATCCCAATGTTAGGTCAAAGCTCCTATCCCTTGGACCCGGGCCTGGCGCCCCCGCCCCCGGCGCGTCCTCACCCGGCGGACGCGGCCGCGCACAAGGCCCAGCACGGCCCGCGTCCCCGCAGCCCGGCCGCGGTTGAACATCTCCAGCGCGAAGCGGGTGGGCGCC
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AAGCGAGGGGCCCACCTACCAGCCTCAGGGAGAAGCCCTGGGGCAGGGAGGAAGCACGCACCCACCCGCCTATTGCAGGTTATTAGGCCATCAATATTTACCCTCCCACAGCTCAGCTTCCCTGCCATAGAGAGGACAGATGATGCCCAGCTGGTCATGGCCCAGGCAGTGGGTAAGGACAGGGTTCCTAGGCATTCCCCCTATTTCCCCTCTAGAGGACCTGAGATGCTGTGATCCCACCCCTGCCTGTGGCCTGGCTGGATGCAGGACAGGCAGCGGAACTCACGGTTGCCGTAGCCCACAAGCAACACCGCATGGTCAATGAGCCAAGGGCTGCAGAGGGGCCGGAGAGGGCGGGAGATCCCGTGGCGGTAAAACTGGAGGTGGAGAAGGAGTAGGGGATCGACTCCAAGAAGAGGTCGGGGAGGTCAACAAGAGATGGGGCAGGGGCAGTGGGGCTAGGGCCTCACCTGCATGCCAAAGGCATTGATGGCCACGGAGATTGGGCCTCTCTTGGCCAGCCAGGCTGCCAGCTCTGAGATGGGAAGGGGTGGCATCAGTAGGCACCCAGGCCCCGGCCCCACCTGACCTCACCTCACCCTGCCCCTCACTCACTCTGCTCGTTCTGGCTCAGCTCCACGGAGTCATTGATGTAGACCTTGGCCTTCTCTGCTGAGAAGTTGCAGGACTGCATGTGACCCTGGTAGCTGTAGTCATCCTCTGTCTCCAGCCCTCCTGGGGAACGGTGGGGGTGAGTAGAGAAGGGCAGGCTCCCATTTGCCATTCACAGCCAGAAATGAACTAAGCCCTCTACGCGAGGTTTCACATTCCTCGTCCACCCCAGGCCACAGGCCATCCCCTCTGAAGAATGTCTTCATTCTAGAAATGACACATCTGAGGCTGGGAGAGATGGGGAGGAGGGACCAGTAGCCAGCAAGAAAAGTGGCAGAGACAGAACTCAACTCCAACTTCTGACTCCTCACCAAGAGCTCATCCCAGCAGTCTTTCACCCAGGCTGGAGTACAGTGGCACAAACATGCCTCACTACAGCCTCAACCTCCTGGGCTCAAGCGATCCTCCTGCCTCAGCCCCCCAAGTAGCTGAGACTACAGATGCAAGCCACCATGCCTGGCTAATGTCTTTAATTTTTTGTAGAGATGGGGTCTTGCTATGTTGCCCAACCTGGTCCTGAACTTCTGGCCTTAAGTGATCTTCCCAAGTTGGCCTCCCAAAGTGTTGGAATTACAGGCATGAGCCACCACGCCTGGCTGGGTCAGCATTAAGACCTGGACCCAGTTCTGTGTAACTCTCATGCTCATGTCTCCCCCCCATTATGAAGTAACTTCTTGTACAGGGAGAAGTGGCTCCGGTTGCCCCTCCTGACCCCATTAATGCATACCCAAATTCTTTATGGCCGAGTAGGCATTGGAGGGCAAGCCGCCCATGCAGGCCTTGTCCATCTTGTCACAGTCCAAGAGCTCTAGGAGACAGAAGGCTGGTCCCAAGAAGCCCTCCTGAGGGGCTAGGCTGGGGACAGAGGAGTAGAGCGAGATGCTCACCCTGTTCAGAGAGGGAGAGCAGGGTCCCCTGGTTGAGAAACCACTGGCCCTCCACATTGCCTGTGACTGAGAAGGCCCAGCAGGAGCCACACATGCCCTACAAGAGATGGGTGGAGTTGGAGTCAGAGCCGGGCCCCTTCGTCAGCCCCAGTGCAGTGCCCATGTCCCACCCTCACTTCCAGGGGTCCAACCTGGTCTTTGACTTTTGTGACAGCCCCCTTACTCCTCCAGTCCCATTCAGGTGGGGCGAGGTCACCCACAGACTTGGCTTGCTTCATCTTGTTGCCAGGCTCTTTCCTCAGGAGAGTATTCAGGTAGATAGTGCGGAACTCCTCCTCTGCGGGCAAAGGTGGGCAGGGCATGGGGAGGAAGAGTGTTCTAAGCCAGACCTGACCAGAGGCCTTGCGAGCAAGGTCCTGTCTCTTCCTGGATCCATGAGGACTGTGGCCACTATCCCTACCTGTGAGATCACTGAACTTGGTGACTCCACACTGAGCTGTGCCACGGTCCAGGGCCTGGATCTTCTGTGCTCGCACCATGTTATTGACAAAGACGGACAGGCGCCACCGGGCTTCTGAGGACCAAGGAGCAGAAGAGGAGGGGTTCGACCCCAGGCAGATAAAAGGAAGGGCAATTGGGGCTAGCAGGCAGGGGTTTCCCCGGGGAGCAGGTAGGGGTGGGGGCCAGACATGCAAGTGATGGAGTGGGAGGTCTGATCAACTTTTAGGGCCAAACTGAAGTGATGACTTCCCAGGTGCAAAAGCAGTAAATGGGGTCTAAAGGACACCACCCACAAGAGGTGGTGGGGAAAGGCCATGTTGTCAAGGACTCTCCAGCACAAAAAATCCAGCCTCTGCCCCATCCCACCCTGCCAGAGTGATGGAGATGCAGAGCTTCTTTTTTTTTTTTTTGAGACAGAGTTTTCGCTTGTCACCCATGCTGGAGTGCAGTGGCACAATCTTTGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGTATACAGGTGTGCGCCACCACACCTGGCTAATTTTTGTACTTTTTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTACTGCGATTACAGAGGTGAGCCACCACGCCCGGCCAAGACCCATGGCTTCTGAGCGGGAAGATAAGGTAGGAGAAGGGGCCAGGTACTCAGGGTGGCTGCCAGGCTGGGAAGGCTTAGGGAGAGCTCAGGAATTATGGGGTCCTTGAACAGGTACACTGCCTCTTGTCTTTCTCCTCCCACACACCAAGGTGCCAAGTTGGGGGGAAAGTCCTGTTCTGATAGGAACAGGTACAGCCAAGGCTGGGTCCTCACCTTCCTTTGACTCATATGTCCGGTTATAGGTAATGACAAAGTTCTTGAAGATTGAAGCCATCTTCACAGGCAAGTCCTGGATAGGCAGACCAGTCTTTAGGCTGACCAGAGAAACCCACTCCAGAGGGAAGGGAGAAGGGTGATGAGGCAGCGGCTGGCTCCTCAAGCTGAGGGCTCCTCAAGCTGAGGGCTCCTCACCTGGGACAGGGGATCCTCATTCAACAGGGAAATGACTGAGCTGAAAGTCTCGTTTCTGTTGTCTGGATGGTTTTGGGACAGAGAAGAAATCATGGCTGAGCCCTGAGTGAAGGCTGACTTGGGCTCCCCAGCACCTGGAACCTTGGTGTCCACTGGGCCACAGTCCTTCCGCAGCAGCACGTGTCTTCCGAGCTCATCCAGGACTTGGAAGCTGCAGAGCTGGAGGGAGAGGAAGAAGCTGCTCTGGGGGCCTGGATCTGGATCTGGGGAGCAAGATCTGGCCAAGATGGAGCTGGAGGCTCCTCAGATGAGAGCCACCCCTAAGGCAATCACCCCATCACAGTGGACAGTGAGGCACGGCCTGCACCGGGGCATCCTCCCCTTCATAGCATCTTGGTTTCCAGCCCTCGGGGCCTGGGAAGTGGCTCAAGGTGGGGCAGCAGCTACCTCAGATCCCTGCGTCTTGACCTGACCCGTCATCATCCAACTGCTGCTTTACTCGGCCTCGGGGCGGGGAACCCCAAGAGCCTCATCACTCACCAGGGTTTTCTTGGACACGGGGAGCCGGCACACCATGGGGTCGTTGCAGGGTGGCTCCTCCAGGGTGGCCTCCAGGGAGTACAGCGACCCCTGACCCGCCTGGAGAGAGGAGTAGGTGAGGCGGGCACAGTCGGCCCTTGACGGCGCCCAAGGCCCCGCCCGTGCGGCGCTGCCCATTCCCCATCACCAGAGATCGGTTCGTCCAGCGGGCAGGCCCCATCCCAATGTTAGGTCAAAGCTCCTATCCCTTGGACCCGGGCCTGGCGCCCCCGCCCCCGGCGCGTCCTCACCCGGCGGACGCGGCCGCGCACAAGGCCCAGCACGGCCCGCGTCCCCGCAGCCCGGCCGCGGTTGAACATCTCCAGCGCGAAGCGGGTGGGCGCC
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Task1_train_16125
|
A variant on Chromosome 11 in gene SPTBN2 (spectrin beta, non-erythrocytic 2) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Autosomal recessive spinocerebellar ataxia 14
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GCAACCTCTAACGGTCTCGCTGTCATGCTGCCTGCCCACAGGCCTTCTTCAGAGTAGCCAAAGTGACTTTTTTACAAACATAAGGTACAATCAAATCTCTCCCCCTCTCAAAACCTTCTAATCACTTTATTTATTTATTTATTTTGAGATGGAGTCTCGCTCCTGTAGTGCAGGCTGGAGTGCAGTAGCACAATCTCAGTTCACTGCAACCTCCACCTCCCAGGTCCAAGCAATTCTCCTTCCTCAGCCTCCTGACTAGCTGGGATTACAGGCGTGTGCCACCACACTCAGCTAATTTTTGTATTTTTAGCAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGGACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTCTTAGGATTATAGGCGTGAGCCACCTTGCCTAGCTGCTTTTTTTTTTTTTTTTTGACTGAGTCTTGCTCTATCACCTAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTGCTGTCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCGCTACCACCGCACCTGGTTAATTTCTGTATTTTTATAGACACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCCAAAGAGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCCCTTCAAATCACTTTAAAGGATCCATGTTACTTTGAATAAAATCCAAACTCCCTGACCAGGCCTGTAAGGCCCTAGTGGGCTGGCCGTGCCCTCCCAAATCTCAGTCCATGGCCCCCACTCCTCATGCTCACAGCCCACCGGCCTTCCTTCTGATCCTGAACACACCATGCTGATCCAGGCCGAGGGCCTGTGCCGGCTGTTCCTTCTGCCCGGAACATTCTCTCCTGAGAGCTCTCTGTGCTGGCTCCTGGCACTATTCTGGTCTCGGCTTAAATGGTATTTTCTCAGAGGCCTTGTCTGACCAGCCCCTCACACCACCCTGTTCCAGTTTCATCAGTGGTTTTATGGCCCCTGCTCTTTTGTTTACGGAAAGGTCCGTGGGTTTTGTCATCAGCCTCCTCCATGTGGACACGAACCCCATGTGGACAGGGCCCTGTTTACTTTGTTCCCTGCAACTGGGGACAGGGCCCTGTGCTGGTTCACACTCCACAGAGATCGGCCGAGCAGACGGGCGGACGCACCCACTGTGGGGCCCCCTCGACTCTTGATCACTCTTACCCCACCCAGCACGCCTCACTGGTACCTTCATCTCTTCCATCCAGTCCATGAGGTAGAGCAGGTCCTGGAACACCTTCTGCAGCTCCAGGTTGAGGAGGAGCCGCTCCCGCCGGGCGGCCACCATCTGCCGCAAGAAGTCCCAGAGCCGTGCCACGTTGTGCTGCCGAGCGGCGATGCGCTTGATGTCGTGGTAGCGCTCGGCGGCCAGCTCTGCAGCCACGGCGTCCACTGCCTGCACCCGGCCGCTGTAGGCCACGATGTCCGTCTCAATGGCTTCGTGCTTCCGTACTGCTGCCTCGACAGCTGCCAGCTCCAGCCCAAAGTTGTCCTGTGTCGGGGGCAGGGAGAGGAGGTGTGGGGACCAAGGGACAGTGCCTCTGCCTGCTCCTCTGTCCTGCAGGGCACTTGGCCTGCAAGATCCCAGCTCCATGCGGTGGCTCTAAGTTCCCTCTCTATCCCACCCCCATCCTGTCTCACCAACCCTCTCTCCTGTCCCACCCTCTGGCCCCTGGCTCCCGGACCTCTAGGCCTTTTTACCCAGGTGACGGATTTTGTGTTTCATTGTCTCTCCACCCCGCGGGGCTTCTTATCCACCCTGTCTCTCTCCCAGTTCTGACCAGCCTAAGCATCCTAGGAGCCTCAAGTCCTACCTGGGACACGAGGCGCTGGTTCTCGCTGAGCCAGGTCTCCCGCATGGCAGCCTTGCGGTCGAAGCGGGCGGCCAGCTGCTCCAGCTTCTCCTGGCGGATGAGCTCGGTGCGCAGGGCCAGCTCACGCTCGTGCTCCGCCTTCTCCAGCCGCTCCCAAGCCTATGGGGTGGGGACAGGGTTAGTGGAAGGGACAGGGTGGGGAGGGCTCAGTGGGGCTGGAGGCACATGGTAAGTCCCATGGAAGCTCGGTCTGGTGGATCCGTGGAATGCAGTGGGTGAGACGCCTGGGCGTGGAAACAGGAAACAGGGCAGCGCTGGGAGTCTGTGAAGCCATGTAGAAGCTTCTGGAAAAGGACTGGAGGGAGCACGAACAGTGGAAACCATCTGATTCCTTTGTGTTGGCAGGACTGTGTGCGAACCTTATTTTTACTTTTAGTAATCTTACAATATTGTGAAAAAAATAAAAGAAGGGATAGTGAGTTGGGGACAGGTTTAACAAGCTGAGGAACTTGGGGCATAATTTCCTTATGTGACCTCGTATGGAGAGTCAGACAAAGGGACAGGGAGCCGTGTGCCTGAGAGGATGGGAGAATCACATCTGGCACAGTGTGGGCAGCTGGGCAGAGTGCTCGAGTTTCAAGTTGGGGCAGCAGATAGTAGAACTTGGTGAAGGTCGACATGGCCCCGGGTTTGGGGATGTGTGCAAGGCATCTGGGCCAGGGCCTGCCCTGAGGGTGGGTGGCCTGTGGGCAGCCACGGACCTTGTTGATGTCCGAGATGAGCCGGCCCTCGCGGGGCGTGTAGACCTTCTGGTTGTTGGCCCGAAGCTTGCTCTGGATGGTGAAGAGCAGCACTTCCAAGTTCCCTTTCTCGGTAAACCTGAGGCAGGAGGCCGGGTTGGGGTCAGAATTAAAGCCCACGAGGGTCACAAGGACTCTTTACTCTTCCAAATGGGTGTCCTGTGTTGCTTTTCTTCTTACAAAAGCAATATAAACTTTTTATGTGGAAGCCAGAAAATATGGGCTAACCAAAAGAACATCATTTTATTTTATTTTGAGACAGAGTCTTGCTTTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTGGGTTCGCTGCAACCTCTGCCTCCCGGGTTCAAGCCAATCTCTTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCACCACCACACCTGGCTAATTTATGTATTTTTAGTAGAGATGGGGTTTCACCATGCTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACGGTGCCCAGCCAAAATAATTCTTTTATAACCTATTTCCCCCACTTATTTTTCATGAACACCTTTCCATGTCAATAAATGCATTTCTTTAATATTATTTTCAGTGGCTGCCCATGACTTATTTTTCTTTTCTAGTGGTTGTGTTGATAAACATCCTTGAAGCTACATCTTTGTTTAATGTCCAGAAGACAACTTCCTAGGTTAAAGGGTACACCTTAAATCATTCCCTGGAATGTATAGAAACAATTGTTTTCTGGACTAATATTAGTTTCAGAGCTGATATATATTAACTCCAAAAGAACTCCATGACAGCATAAACACAGACGTTTTGGCAGGTACTGAACAGAATTGCCTAACAGCAATCACATACTTGGAACAGTTAATTGCTAAAATACTGAAATGATAAGAACCTCTGCAATTCTCACGTTACCAGCCACACCCATGTTGCCGGTTGTGACCTGCCTGTCAGGTCCAGTCCCCTCTATCCTATGCTAGGATTGGGTTGCCATGACACCTGATCAGTAATCTTATCTGATGGATCGCACTGACTCAACACATCATAGCAATCATTTCCACAGCATGTTTGTTTGTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGTTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGTCTCCCGGGTTCAGGTGGTTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATGACAGGCGTGTGCCACCATGCCCAGCTAATTTTTTTGTAATTTTAGTGGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCCGACCTCAGTAGAGATGGGGTTTCACC
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GCAACCTCTAACGGTCTCGCTGTCATGCTGCCTGCCCACAGGCCTTCTTCAGAGTAGCCAAAGTGACTTTTTTACAAACATAAGGTACAATCAAATCTCTCCCCCTCTCAAAACCTTCTAATCACTTTATTTATTTATTTATTTTGAGATGGAGTCTCGCTCCTGTAGTGCAGGCTGGAGTGCAGTAGCACAATCTCAGTTCACTGCAACCTCCACCTCCCAGGTCCAAGCAATTCTCCTTCCTCAGCCTCCTGACTAGCTGGGATTACAGGCGTGTGCCACCACACTCAGCTAATTTTTGTATTTTTAGCAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGGACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTCTTAGGATTATAGGCGTGAGCCACCTTGCCTAGCTGCTTTTTTTTTTTTTTTTTGACTGAGTCTTGCTCTATCACCTAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTGCTGTCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCGCTACCACCGCACCTGGTTAATTTCTGTATTTTTATAGACACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCCAAAGAGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCCCTTCAAATCACTTTAAAGGATCCATGTTACTTTGAATAAAATCCAAACTCCCTGACCAGGCCTGTAAGGCCCTAGTGGGCTGGCCGTGCCCTCCCAAATCTCAGTCCATGGCCCCCACTCCTCATGCTCACAGCCCACCGGCCTTCCTTCTGATCCTGAACACACCATGCTGATCCAGGCCGAGGGCCTGTGCCGGCTGTTCCTTCTGCCCGGAACATTCTCTCCTGAGAGCTCTCTGTGCTGGCTCCTGGCACTATTCTGGTCTCGGCTTAAATGGTATTTTCTCAGAGGCCTTGTCTGACCAGCCCCTCACACCACCCTGTTCCAGTTTCATCAGTGGTTTTATGGCCCCTGCTCTTTTGTTTACGGAAAGGTCCGTGGGTTTTGTCATCAGCCTCCTCCATGTGGACACGAACCCCATGTGGACAGGGCCCTGTTTACTTTGTTCCCTGCAACTGGGGACAGGGCCCTGTGCTGGTTCACACTCCACAGAGATCGGCCGAGCAGACGGGCGGACGCACCCACTGTGGGGCCCCCTCGACTCTTGATCACTCTTACCCCACCCAGCACGCCTCACTGGTACCTTCATCTCTTCCATCCAGTCCATGAGGTAGAGCAGGTCCTGGAACACCTTCTGCAGCTCCAGGTTGAGGAGGAGCCGCTCCCGCCGGGCGGCCACCATCTGCCGCAAGAAGTCCCAGAGCCGTGCCACGTTGTGCTGCCGAGCGGCGATGCGCTTGATGTCGTGGTAGCGCTCGGCGGCCAGCTCTGCAGCCACGGCGTCCACTGCCTGCACCCGGCCGCTGTAGGCCACGATGTCCGTCTCAATGGCTTCGTGCTTCCGTACTGCTGCCTCGACAGCTGCCAGCTCCAGCCCAAAGTTGTCCTGTGTCGGGGGCAGGGAGAGGAGGTGTGGGGACCAAGGGACAGTGCCTCTGCCTGCTCCTCTGTCCTGCAGGGCACTTGGCCTGCAAGATCCCAGCTCCATGCGGTGGCTCTAAGTTCCCTCTCTATCCCACCCCCATCCTGTCTCACCAACCCTCTCTCCTGTCCCACCCTCTGGCCCCTGGCTCCCGGACCTCTAGGCCTTTTTACCCAGGTGACGGATTTTGTGTTTCATTGTCTCTCCACCCCGCGGGGCTTCTTATCCACCCTGTCTCTCTCCCAGTTCTGACCAGCCTAAGCATCCTAGGAGCCTCAAGTCCTACCTGGGACACGAGGCGCTGGTTCTCGCTGAGCCAGGTCTCCCGCATGGCAGCCTTGCGGTCGAAGCGGGCGGCCAGCTGCTCCAGCTTCTCCTGGCGGATGAGCTCGGTGCACAGGGCCAGCTCACGCTCGTGCTCCGCCTTCTCCAGCCGCTCCCAAGCCTATGGGGTGGGGACAGGGTTAGTGGAAGGGACAGGGTGGGGAGGGCTCAGTGGGGCTGGAGGCACATGGTAAGTCCCATGGAAGCTCGGTCTGGTGGATCCGTGGAATGCAGTGGGTGAGACGCCTGGGCGTGGAAACAGGAAACAGGGCAGCGCTGGGAGTCTGTGAAGCCATGTAGAAGCTTCTGGAAAAGGACTGGAGGGAGCACGAACAGTGGAAACCATCTGATTCCTTTGTGTTGGCAGGACTGTGTGCGAACCTTATTTTTACTTTTAGTAATCTTACAATATTGTGAAAAAAATAAAAGAAGGGATAGTGAGTTGGGGACAGGTTTAACAAGCTGAGGAACTTGGGGCATAATTTCCTTATGTGACCTCGTATGGAGAGTCAGACAAAGGGACAGGGAGCCGTGTGCCTGAGAGGATGGGAGAATCACATCTGGCACAGTGTGGGCAGCTGGGCAGAGTGCTCGAGTTTCAAGTTGGGGCAGCAGATAGTAGAACTTGGTGAAGGTCGACATGGCCCCGGGTTTGGGGATGTGTGCAAGGCATCTGGGCCAGGGCCTGCCCTGAGGGTGGGTGGCCTGTGGGCAGCCACGGACCTTGTTGATGTCCGAGATGAGCCGGCCCTCGCGGGGCGTGTAGACCTTCTGGTTGTTGGCCCGAAGCTTGCTCTGGATGGTGAAGAGCAGCACTTCCAAGTTCCCTTTCTCGGTAAACCTGAGGCAGGAGGCCGGGTTGGGGTCAGAATTAAAGCCCACGAGGGTCACAAGGACTCTTTACTCTTCCAAATGGGTGTCCTGTGTTGCTTTTCTTCTTACAAAAGCAATATAAACTTTTTATGTGGAAGCCAGAAAATATGGGCTAACCAAAAGAACATCATTTTATTTTATTTTGAGACAGAGTCTTGCTTTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTGGGTTCGCTGCAACCTCTGCCTCCCGGGTTCAAGCCAATCTCTTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCACCACCACACCTGGCTAATTTATGTATTTTTAGTAGAGATGGGGTTTCACCATGCTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACGGTGCCCAGCCAAAATAATTCTTTTATAACCTATTTCCCCCACTTATTTTTCATGAACACCTTTCCATGTCAATAAATGCATTTCTTTAATATTATTTTCAGTGGCTGCCCATGACTTATTTTTCTTTTCTAGTGGTTGTGTTGATAAACATCCTTGAAGCTACATCTTTGTTTAATGTCCAGAAGACAACTTCCTAGGTTAAAGGGTACACCTTAAATCATTCCCTGGAATGTATAGAAACAATTGTTTTCTGGACTAATATTAGTTTCAGAGCTGATATATATTAACTCCAAAAGAACTCCATGACAGCATAAACACAGACGTTTTGGCAGGTACTGAACAGAATTGCCTAACAGCAATCACATACTTGGAACAGTTAATTGCTAAAATACTGAAATGATAAGAACCTCTGCAATTCTCACGTTACCAGCCACACCCATGTTGCCGGTTGTGACCTGCCTGTCAGGTCCAGTCCCCTCTATCCTATGCTAGGATTGGGTTGCCATGACACCTGATCAGTAATCTTATCTGATGGATCGCACTGACTCAACACATCATAGCAATCATTTCCACAGCATGTTTGTTTGTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGTTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGTCTCCCGGGTTCAGGTGGTTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATGACAGGCGTGTGCCACCATGCCCAGCTAATTTTTTTGTAATTTTAGTGGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCCGACCTCAGTAGAGATGGGGTTTCACC
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Task1_train_16126
|
Gene SPTBN2 (spectrin beta, non-erythrocytic 2) on Chromosome 11 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; not provided
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AAGCCGAATTGGCTTCCAGCGCACAACTGAGGCTGACCATAACTTGAAATCTGTGGGTTCTTTTAAATAGGCCAGATTTTATCCTAAAGGTAAGACTATGAGACCAGAAGCCTCTTGCCTATTTCTGGAAATACATGGGCAGGCAGGAGCCACTGAAGTCATCTCGGAAAGTTACAGAATGCTTAGCTTTATTTCCAGGTTCTGAATTACAGCCATGCTACCCAGAGGCTCTCCAAGGAGCACTGCATGAAGCCTATGTCTGTTGCTAGCTCGCTGACACTTGTCATTCTGCAGTAAAAAGGCCCAGGTGATAGGGCTACAGGTAGAATGGAAAACAGGGAGAAAATGGCCAAGACCAGTGAACATCCACCCAGTGAACTTAAGGAGCACCTCCAGCAGGCGAGCCTTTCTCTCCTCCCTGTTCTGGTTGCACCAAGATTGGTCTCCACTTTCCCAGAGGCAGCGGAGGAAACAGGCTCTGGAGCCAGGCTGCCTGAACGCCAATCTCAGCTCCATCTGCCGGAGGACCTGGGCAAGTTGCTTACCCATTATAGGCCCCCATCTTCTCTTCCATAAACTGAGGATAACAACAGTACTGATTTCAAAGGGGTGTTGTGAAGATTAAAACACATCAAGTGCAGAACCAGGTATCAAATAAGAGCCTAATCGCAGTCAGGCGCGGGGGCTCACACCTGTTATCACAGCGCATTGGGAGGCCGAGGTGGGCGGACCACGAGGTCAGGAGTTAGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGGATGCGCCTGTAATCTCAGCTACTCAAGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGTCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAGAGCCCAGTGGCTGTTACTGATCTCATCGATCTCATCGGCATTATGACCAGAACCACAGGAACCAATCAGCAAGGTCAGCTGACTACAGGCCAGTTCTGGGTGAGAGTGGAAGGTCATGCAGCTTAATTTTTTTTCTTAAAAATTTGTTTTAAAAAAATAGAGATGGGTCTCGCTGTTGCCCAAGCTGGAGTACTGTGGCTATTGACAGGTGTGATCCCACTACTGATCAGTGTGGGAGTTTTGACCTGCTCCATTCTGACCTGGACTGGTTCAGTCCTCCTTAGGTAACCTGCTGGTCCCCTGCTCCCAGGAGGTCACCAGTGCTGAATTTAGTGTAGATATCCAATCAGCATAACCCACTGCAGCCTAGAACTCCTGGGCTCAAGTGATCCTCTCGCCTCAGCCTCACTAGCAGCTAGGACTATAGGCAGGTACCACCGTGGCCAGCAACATGTAGCTTAATTTAGAATCCTAGAATTTCAGAAGAGCCCTTAGAGACCAATTCTCTCTTTTAAGACATGAGGAAACTGAGCCACAGAGAGGCTAGCCACTGGCTGTATGTCACAGAGCTCCTCTGTGCTCTGCCTGGGACACAACCCACAGTCCAGGGCTCTTTCTGTCACTGGGCTGCCTTTCTTCCTACCTACAGTCTTTTGTTAAAAAAAAAAAAAACCTGAGAAATGATTGTCACACCATAAAATTCAACCTTTCAATGTATATAATTCAGTGGTTTTCAGTGTAAAGATATATATTTTTTTTGGGGGGGAGGGGTAGTCATGGGGTCTCACTATGTTGCCCAGGCTGGTACCAAACTCCTAGGCTCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGTGTGAGCAACCACGTGTTTTTCAGTATATTTACAAGGTTGTGTAACCATCACCACTTTCTAATTCCAGAACATTCTCTTCCCCCACCAAAGAAGCCCCTGTATCAGTTGGTGGTTACTCCATGTCTTCCCCCTCCGCAGCCCCTGGCAACCACTGGTCCACCTCCTGTCTCTACCCTACCACCTCTTTTTCACATAGCTCTGGCCCCACCTTCGGGATCCAGCAGCTTGGTAAGTCCCAGTTCCTTTTCAGCCAGATTGAATGCATTCTGCAGATTATAGTGTGCATTACACTTCTTCAGAGACTCAAAATCCAGCAGGTCTGGCCTGGGTGGGGAGGCAAGACAGAAGGGATCAGAAACATGTGAGATCTCGAAGAGGAAGAGGAAACCCACACCAATCTTTATCCCTAAGTCACCGACCCAATTTTGTCCAGAAGTAGGCATCCCAAACCCACACTGCTGCTCACAGCCCCTCCCCACACCACCTCCCCTGCTTCCCATCACAAGTGCTCTGCGCAGCCCTGCACCCCCATGTTCTGGTTCTGCTCCGAGTGCTATTCCTTCCGTCTGACTGCTGTGCAGCTCATCTCATCTCTGTCTCCACATGTGCACCCCAGGTCATTAGCCGACCCAGCAGCTCTGCTGCGTTTGCTAACCCCATCTTCTCACCGGTGTTTATGCACGATGGCGTTGAAAGCTAGTCCATCTCTCCAGCTGGTGGTGAAGTTGTGTACATTGACGTTGGGATAACTATAAACAGAGATTCAGAAAATGGTGAGTAGGGCTGAGCTCTGTTCTATGACTCCAGGGCAGTCACCAGCTCATGGTTCCTGGAGCCCAGCACAGCCTGGGGGTCACTGACCCTCCAGTGCCACACGCCCAGGGTGTCCTCACCCTGCAGTCTTCATCTGGCACCACAGAAGCAGGGCATCCTTGGCTGACTTCTTCTCCTTGTTGTCTTCTGTCTCCACACTGATGTCTTGGATCTAGGAAGGAAGCAAGCAGGGCCCTCAGTCCCTGGACAGGAACTCCTGGTGTTATCAGAGATGCTCAGATAAATGGCAGGAAACTGCTCTTTAGACTGTGGTAATGGGGTGGACAGGCATAGCCTGAGGTCCTTTCAACCTAGGCCAGGGACCACAAAACACTGGGTGCAAGGGATTTGAGGCAGCAGATTAGGGTAGGATGCTGAAGAATGGGTGTGTCTGAGTGGAGGGTGCTGGTCCCTCCAGGTGGGGAACTGCAGGCAGAAGAGTGAACATTTTCTGAGAGCTGGCTCTCCAAGGTCTCTAAAAGCTGGCTCTCCAAGGTGAAGCCGACAGAACCCGGGAAGGAAGGGGGTGATCAGGAACGCTGTGATGGCATGAGGACACTGGGGCATGAGGAGGAGGAGGGTGACTGTTCCATTGGGGGAGGCAGGCAGAGTTTATGGCAGGGAATTGGTGCCAGTGACCAGACCCTCTAGAAGTTCCCAAATCCCTGTGGTGAAGGACCAGTTGGTAAAACTTCCAGTCTCCTGTGGACCAACCTGTGGTCCTGGTCCCATTGCACACGACCAACACACAGACCAGAACACAGGGAATTTGCCACAGGGGTGTGACATTCACCCAAGCTGGTTTCTACCCTGCTGAAAGAGGGGAGTCCACTGATCTGGTGCTTGGATAGCGCCGCCATGGCAGCTGCTACATAAGGTTCTAGATCCTCCATCTTTGTGTTTGTTGTGTCATGGGCCAGCAGGAACGGCTTGCGGTGCAGAGCCAGGGCAGGAACCACACCCTGTGTGACAGTGTGCTGGGGTACCTGGAATCGAAGGATGATGGTCCAGACCAGCCCAAGGGTCAGTCGGTGGTTTCCGTCCACAATGTCATGGGAGCCCATGTTTTCCAAGTGCACTTTCTGCTCCTTGAGGAACTGCAGTGCCTTGTCCACGTTCTCCAGGCAGTGGATCCGCATGCGGCCCTTTGTAGGCTTTGGCTGTGGAGGGACGGGGGCAAAATGGCACGGGACTGTGGGCTTCCACCTTCTTCCCCAGCCTTCACAGGGCCCAGCTTTGCACACCTTCCCCATGACCTACCTCAGGAACACAGACAGGCACAGCCCCAGGGCTGGAGCCAAAGCTGAGCTTACAGATGAGGCTTGGGCAGATTAAGATTCCCAAGGGAATTAATTGCACCCAGAGTAGGTGGGAAAAGAAATGTTTTCAATGGGGCCACTGTTCCTGTCTCCATGAAGCAATGCTCCTATGTAATCTAAGTGGCAAAGGCACTTGAA
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AAGCCGAATTGGCTTCCAGCGCACAACTGAGGCTGACCATAACTTGAAATCTGTGGGTTCTTTTAAATAGGCCAGATTTTATCCTAAAGGTAAGACTATGAGACCAGAAGCCTCTTGCCTATTTCTGGAAATACATGGGCAGGCAGGAGCCACTGAAGTCATCTCGGAAAGTTACAGAATGCTTAGCTTTATTTCCAGGTTCTGAATTACAGCCATGCTACCCAGAGGCTCTCCAAGGAGCACTGCATGAAGCCTATGTCTGTTGCTAGCTCGCTGACACTTGTCATTCTGCAGTAAAAAGGCCCAGGTGATAGGGCTACAGGTAGAATGGAAAACAGGGAGAAAATGGCCAAGACCAGTGAACATCCACCCAGTGAACTTAAGGAGCACCTCCAGCAGGCGAGCCTTTCTCTCCTCCCTGTTCTGGTTGCACCAAGATTGGTCTCCACTTTCCCAGAGGCAGCGGAGGAAACAGGCTCTGGAGCCAGGCTGCCTGAACGCCAATCTCAGCTCCATCTGCCGGAGGACCTGGGCAAGTTGCTTACCCATTATAGGCCCCCATCTTCTCTTCCATAAACTGAGGATAACAACAGTACTGATTTCAAAGGGGTGTTGTGAAGATTAAAACACATCAAGTGCAGAACCAGGTATCAAATAAGAGCCTAATCGCAGTCAGGCGCGGGGGCTCACACCTGTTATCACAGCGCATTGGGAGGCCGAGGTGGGCGGACCACGAGGTCAGGAGTTAGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGGATGCGCCTGTAATCTCAGCTACTCAAGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGTCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAGAGCCCAGTGGCTGTTACTGATCTCATCGATCTCATCGGCATTATGACCAGAACCACAGGAACCAATCAGCAAGGTCAGCTGACTACAGGCCAGTTCTGGGTGAGAGTGGAAGGTCATGCAGCTTAATTTTTTTTCTTAAAAATTTGTTTTAAAAAAATAGAGATGGGTCTCGCTGTTGCCCAAGCTGGAGTACTGTGGCTATTGACAGGTGTGATCCCACTACTGATCAGTGTGGGAGTTTTGACCTGCTCCATTCTGACCTGGACTGGTTCAGTCCTCCTTAGGTAACCTGCTGGTCCCCTGCTCCCAGGAGGTCACCAGTGCTGAATTTAGTGTAGATATCCAATCAGCATAACCCACTGCAGCCTAGAACTCCTGGGCTCAAGTGATCCTCTCGCCTCAGCCTCACTAGCAGCTAGGACTATAGGCAGGTACCACCGTGGCCAGCAACATGTAGCTTAATTTAGAATCCTAGAATTTCAGAAGAGCCCTTAGAGACCAATTCTCTCTTTTAAGACATGAGGAAACTGAGCCACAGAGAGGCTAGCCACTGGCTGTATGTCACAGAGCTCCTCTGTGCTCTGCCTGGGACACAACCCACAGTCCAGGGCTCTTTCTGTCACTGGGCTGCCTTTCTTCCTACCTACAGTCTTTTGTTAAAAAAAAAAAAAACCTGAGAAATGATTGTCACACCATAAAATTCAACCTTTCAATGTATATAATTCAGTGGTTTTCAGTGTAAAGATATATATTTTTTTTGGGGGGGAGGGGTAGTCATGGGGTCTCACTATGTTGCCCAGGCTGGTACCAAACTCCTAGGCTCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGTGTGAGCAACCACGTGTTTTTCAGTATATTTACAAGGTTGTGTAACCATCACCACTTTCTAATTCCAGAACATTCTCTTCCCCCACCAAAGAAGCCCCTGTATCAGTTGGTGGTTACTCCATGTCTTCCCCCTCCGCAGCCCCTGGCAACCACTGGTCCACCTCCTGTCTCTACCCTACCACCTCTTTTTCACATAGCTCTGGCCCCACCTTCGGGATCCAGCGGCTTGGTAAGTCCCAGTTCCTTTTCAGCCAGATTGAATGCATTCTGCAGATTATAGTGTGCATTACACTTCTTCAGAGACTCAAAATCCAGCAGGTCTGGCCTGGGTGGGGAGGCAAGACAGAAGGGATCAGAAACATGTGAGATCTCGAAGAGGAAGAGGAAACCCACACCAATCTTTATCCCTAAGTCACCGACCCAATTTTGTCCAGAAGTAGGCATCCCAAACCCACACTGCTGCTCACAGCCCCTCCCCACACCACCTCCCCTGCTTCCCATCACAAGTGCTCTGCGCAGCCCTGCACCCCCATGTTCTGGTTCTGCTCCGAGTGCTATTCCTTCCGTCTGACTGCTGTGCAGCTCATCTCATCTCTGTCTCCACATGTGCACCCCAGGTCATTAGCCGACCCAGCAGCTCTGCTGCGTTTGCTAACCCCATCTTCTCACCGGTGTTTATGCACGATGGCGTTGAAAGCTAGTCCATCTCTCCAGCTGGTGGTGAAGTTGTGTACATTGACGTTGGGATAACTATAAACAGAGATTCAGAAAATGGTGAGTAGGGCTGAGCTCTGTTCTATGACTCCAGGGCAGTCACCAGCTCATGGTTCCTGGAGCCCAGCACAGCCTGGGGGTCACTGACCCTCCAGTGCCACACGCCCAGGGTGTCCTCACCCTGCAGTCTTCATCTGGCACCACAGAAGCAGGGCATCCTTGGCTGACTTCTTCTCCTTGTTGTCTTCTGTCTCCACACTGATGTCTTGGATCTAGGAAGGAAGCAAGCAGGGCCCTCAGTCCCTGGACAGGAACTCCTGGTGTTATCAGAGATGCTCAGATAAATGGCAGGAAACTGCTCTTTAGACTGTGGTAATGGGGTGGACAGGCATAGCCTGAGGTCCTTTCAACCTAGGCCAGGGACCACAAAACACTGGGTGCAAGGGATTTGAGGCAGCAGATTAGGGTAGGATGCTGAAGAATGGGTGTGTCTGAGTGGAGGGTGCTGGTCCCTCCAGGTGGGGAACTGCAGGCAGAAGAGTGAACATTTTCTGAGAGCTGGCTCTCCAAGGTCTCTAAAAGCTGGCTCTCCAAGGTGAAGCCGACAGAACCCGGGAAGGAAGGGGGTGATCAGGAACGCTGTGATGGCATGAGGACACTGGGGCATGAGGAGGAGGAGGGTGACTGTTCCATTGGGGGAGGCAGGCAGAGTTTATGGCAGGGAATTGGTGCCAGTGACCAGACCCTCTAGAAGTTCCCAAATCCCTGTGGTGAAGGACCAGTTGGTAAAACTTCCAGTCTCCTGTGGACCAACCTGTGGTCCTGGTCCCATTGCACACGACCAACACACAGACCAGAACACAGGGAATTTGCCACAGGGGTGTGACATTCACCCAAGCTGGTTTCTACCCTGCTGAAAGAGGGGAGTCCACTGATCTGGTGCTTGGATAGCGCCGCCATGGCAGCTGCTACATAAGGTTCTAGATCCTCCATCTTTGTGTTTGTTGTGTCATGGGCCAGCAGGAACGGCTTGCGGTGCAGAGCCAGGGCAGGAACCACACCCTGTGTGACAGTGTGCTGGGGTACCTGGAATCGAAGGATGATGGTCCAGACCAGCCCAAGGGTCAGTCGGTGGTTTCCGTCCACAATGTCATGGGAGCCCATGTTTTCCAAGTGCACTTTCTGCTCCTTGAGGAACTGCAGTGCCTTGTCCACGTTCTCCAGGCAGTGGATCCGCATGCGGCCCTTTGTAGGCTTTGGCTGTGGAGGGACGGGGGCAAAATGGCACGGGACTGTGGGCTTCCACCTTCTTCCCCAGCCTTCACAGGGCCCAGCTTTGCACACCTTCCCCATGACCTACCTCAGGAACACAGACAGGCACAGCCCCAGGGCTGGAGCCAAAGCTGAGCTTACAGATGAGGCTTGGGCAGATTAAGATTCCCAAGGGAATTAATTGCACCCAGAGTAGGTGGGAAAAGAAATGTTTTCAATGGGGCCACTGTTCCTGTCTCCATGAAGCAATGCTCCTATGTAATCTAAGTGGCAAAGGCACTTGAA
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Task1_train_16127
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Here is a variant affecting PC (pyruvate carboxylase) on Chromosome 11. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Pyruvate carboxylase deficiency
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TTTAATCTTCCTGTGACTTGATTTCTGTGTCCATAAGAGGATGAAGGTTAATTCCCTGTGTTAATAGGTGTTAAATACTTAGAACAGGCCCCACCCCTCAAGCAAGTTCAGTACTACTAGTCCTGTTTGGGGAGTATACACAGTAGGCACCCAATAGTGACTTAAAACAGGGCCACGATGGTCATTCTCACTACCCTCTGAGGAGAACGACACAACTGACCTGCCCACCCATGGGGAGCTTGAAAGGCAGCCCCCCACTGCTGAGTGGTGCAGGCTGGGGGCTGCACAGGATCCAGCATGGAGGGCAGGGGAAAGCCAGCTTTATTGAGTAAACTTCCCAGGACCTGGGACATCTTAGATCTCCCCTTCCCCCAGGAGATAGGACCCCTAAACCTCCCCTGGGTCCTAGGACCACCTGACCCACCACTTGTAGTCTCCAGTGAGGAGGGGACCCTTATTTGGCAAGAGATGAACATGTAAGCAGCTGTCCGCCGGAGGAAAGGACGATGGCTGAAAGGAATGAACCACCGCAGGCGGTGTCTCTCCTGTCCAGCTGTGGACAGGACCTCCACGGCCCGGCCTTCCTGGCCTCGGGCACTGGCTGGCCTGGGCCTGCCGTGGCAGCACAGCTTCTGTTGAAGGCTTGGGGATGGCCAGGCTGCCGGTCTGGGGCAAGATCACTCGATCTCCAGGATGAGGTCGTCACCTTCCAGTGTCATGTCCTTGGTCACATGAACCTTGCGGACAGTACCCTCCATGGGTGAGGTCACCACAGTCTCCATCTTCATGGCACTGAGCACACACAGGGGCTGGCCCTTGGCCACCTTGGCCCCTGCCACCACTTTGATGTCTATCACCTTCCCAGGCATGGGCGCCCCGATCTGGCCCTTCACGTCCTTTAGGGCCTTGGGGTGGAAGTGCATCTCCTGAAGACACAGGGCAGAGGGGACATGACATCCTGGGCCCAGCCAAGCCCCACCGCCTGGCTGGCCCTGGGGGAGACAATACCTTCATGGCCTGGGTGTCCTTGACCAAGATGGACCGCAGCTGCCCATTGAGCTCAAAGAAGACCTGCCTCTGGCCGGCCCGGTTCAGGTCGCTCACGGCCAGGGCTTTGATGTGCAGCGTCTTGCCCCGCTCCAGCTCCACCTGCAGGGAGGGTGTGCAGACTCAGAGCTGGACGCCAAGGTGGGAGAGCAGTCCCCCGGCCCTGGCCATAGGAAGTCCCCACACTGGGCCTTGGCTCCTCGTTCCTAAAGGCCTAGCTCCCGGTCTCAAGGGTCCTTTCTGCTCCCAAAGCTTGCGAGGCTGGGTGACAGCCAAGCTAAACTCCAGAGCTCTGGGGCAGGGGGCCAGGGTGGAGTGTGGAGAAGCGCCAGAGCCACTGACCTCAAACTCCTCTGCGATCTTGGGTCCCTGCAGGAAGAGGCGAGTATTCAGGCTATCCAGGGGGCCAAAGGTGGCAGTGAAGTCCTTGAAGTGGGCAAACACATCGGGGTACATAGCTGCTGAGAGCACATCTTCCGGCGTCACCTCCTCCCCATGCCGGTCTACCAGCTCCTTCTCCAGTGCCTGCAGATCCAGGGGAGGGAGGGAGGCTCCAGGCCGCCCCTCCACCCTTGGCAGGTCCTTCAGTACCTGGGGAGCAAAGCAGAGGATCAGTCCCAAGTCCTGCATCCAGCCCCCACCCTCACACCATGCTGGGCCTTCCCTACCTTAGAGCGAAAGGGTTCGGGGAACCCCCCATGGGGGACACCGATGTAGCCCTGCAGGAACTCCACCACGGAGCGGGGAAAGGACAGCTCTTCCGCCTGAGCTTCGGCCTCTGCCCGGCTCAATCCATTCTGCACCATAAACTGGGCCAGGTCCCCCACGATCTTGGAGGAGGGCGTCACCTGAGGAGAAGGCCCTGGAGGTTAGGGTGCCAGGCACCTCAAGGAGGCCAGTGGCAGGTGCATGCAGGGCTGGGTCAGGTAAGGAGCACCGGGCCGGGCTCACCTTGATGAGATCGCCCAGCATCTGGTTGGCCTCCACATAGGCCTTCTTGACCTCCTTGAACTTGGAGCCAAGCCCCATGCTGTGGGCCTGGAAGTGCAGGTTGGTGTACTGGCCCCCTGGGATCTCATTTTCATACACGTCCGAGTTGCCAGACTTCATGGTGGCCGTGCAGTCGAAGGCCGCGTACAGTCCCCGAGCCCCCTCCCAGTACTCACTGTAGTCAAACACGCGCTCCATGGGCACCTCTGCAGGGAGGCCAGAGTCAGAGGAGGCCTTAGAAATGTGTGACTCTTCCAGGACCCAGGGCTAGCTCAGGTCCCATGTCTGACTCAGGTGACAGAAGGCGGCAAGGCCAGAGCAGGGCATCTGGATCCTAGGCAGGTCCAACACTACTGGGACTGGTGGTGGCTGCGGCTTTGAGAGGGGTGTGGCCACGGGCTGCTGTTCTTCCTACCTGTGTCCAGGGGAGTCCCTCTGGTACAGGCCACCAGGGCCCCCATGCTGGGCTGTGAAGTCATCCCAGACATGGAATCAGCTGCCACATCCACCACATCAGCTCCAGCCTGGGCACAGGCCAGCATGGCTGCCACGCCTGCCCCTGACGTGTCGTGGGTGTGGATGTGCAGTGGGAGGTCGGGGAAGCGGTCCCGGAGGGAGCTGACCAGCATGGTGCAGGCCGTGGGCTTCAGCAGCCCGGCCATGTCCTGGGGGAAGTGGGAGAGAGAGAGAGAGAGATGGTAGAGAGGGCAGGATGTGTGCCTGTGGGTGGCGGGGACATGGCCGGGGCAGAGAGGGAGGGACGGACAAGTGGCCCAGGCACCTTGATGCACAGGATGTGGGTGCCAGCTCGCACCAGCTCTTCGGCCAAGCCCATGTAGTACTGCAGTGAGTACTTGGTGCGGCTGGGGTCGGCCACGTCGCCCGTGTATGAGATGGCAGCCTCCACCACGCCTCCGGCACTTCCTGCCGCCTCCATGCCCAGCAGCATGTTGGGCAAGTAGTTGAGGGAGTCAAACACACGGAAGACATCCATGCCATTCTCTTTGGCCACTTCACAGAACCTGCAAGGGTGAGAGAGCCCAGGGCTGAGCCCCACCCCACCTCCCTCTGAACAGTCTTCCCTGGCTCCTTCCTGACCCACTCTATGGCCCCTGGGGAATGAGATCTGAGGGTCTCGCCTGGCAGGGGGTGTGGCATCCACAGGCGGGGGGTGGCCACACAAGTGTGGACCAGGCCCTGGAGGATCAGCTAGGCCAGTGGCAGGCTGTGGAAGAGGGTACTGAGCAAGGAGTCTTGAGGCCTGGGTTCCAATCCCAGCCCTGCACCGAGTGACCCAGGCAAGTCTCAGACCTTCCACTGCCCCAGGAGTGAGGGAGTGATTTAGAAGCCTGTCTGGTTCTGCAACTCCAATTTTACACTTCTCGATATTTCCAAACAGCAGCCCCTGCTGCGTGTGGCCACAGAGAGACTTGGTGTCAGGCTGACCGTGGAGAACAGAGGCCATCACGACATGGCTCGGTACCCTCTGGGCCACACCAGGTAGCGTCTGCCCACCCCACCCCAGGCTCACTTGAAGACCACGTTGTCTGGGTAGTTGGTGTAGCCCACAGCATTGGCCCCCCGCAGCAGCATCTGGAAAGGGATGTTGGGGATGAGCTCCCGGAGCTCCTGCAGCCGCCGCCAGGGGCACTCATACAGGAAGCGCATGGCGACGTCAAACGTGGCTCCTGCACAGGAACCGAGAGGCCCAGATCAGCTCTGCATGCCTGGGGAACTCCACCAGGCCTTGGAGCTAGCTCTGCAGCACAAGCCTCTGGCCCCAATACCAGGTCCTGCTCATCTTCGCCATACCTGTGTTCCCTGCTCCAACCCCCACAGATTTTTCCCTTGTCTGATCTCTAAGGGGGAGACCAGGCTCATTTGTGTCCCTTCTATGCCCCCTTTATAATCCCATCTTCTCCTCTACCTCTCTGTGCTATAATTAACAGGCAGGTGTCTCCTCCTGACCCTGGACCTCCCAGGATGCACCTGGTCTCAGCTCTGCAACCTCGTGCCGGCACCAGGCCTGGCCGGAGAGGGCGCTGTGCCTTCTTCGGTC
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TTTAATCTTCCTGTGACTTGATTTCTGTGTCCATAAGAGGATGAAGGTTAATTCCCTGTGTTAATAGGTGTTAAATACTTAGAACAGGCCCCACCCCTCAAGCAAGTTCAGTACTACTAGTCCTGTTTGGGGAGTATACACAGTAGGCACCCAATAGTGACTTAAAACAGGGCCACGATGGTCATTCTCACTACCCTCTGAGGAGAACGACACAACTGACCTGCCCACCCATGGGGAGCTTGAAAGGCAGCCCCCCACTGCTGAGTGGTGCAGGCTGGGGGCTGCACAGGATCCAGCATGGAGGGCAGGGGAAAGCCAGCTTTATTGAGTAAACTTCCCAGGACCTGGGACATCTTAGATCTCCCCTTCCCCCAGGAGATAGGACCCCTAAACCTCCCCTGGGTCCTAGGACCACCTGACCCACCACTTGTAGTCTCCAGTGAGGAGGGGACCCTTATTTGGCAAGAGATGAACATGTAAGCAGCTGTCCGCCGGAGGAAAGGACGATGGCTGAAAGGAATGAACCACCGCAGGCGGTGTCTCTCCTGTCCAGCTGTGGACAGGACCTCCACGGCCCGGCCTTCCTGGCCTCGGGCACTGGCTGGCCTGGGCCTGCCGTGGCAGCACAGCTTCTGTTGAAGGCTTGGGGATGGCCAGGCTGCCGGTCTGGGGCAAGATCACTCGATCTCCAGGATGAGGTCGTCACCTTCCAGTGTCATGTCCTTGGTCACATGAACCTTGCGGACAGTACCCTCCATGGGTGAGGTCACCACAGTCTCCATCTTCATGGCACTGAGCACACACAGGGGCTGGCCCTTGGCCACCTTGGCCCCTGCCACCACTTTGATGTCTATCACCTTCCCAGGCATGGGCGCCCCGATCTGGCCCTTCACGTCCTTTAGGGCCTTGGGGTGGAAGTGCATCTCCTGAAGACACAGGGCAGAGGGGACATGACATCCTGGGCCCAGCCAAGCCCCACCGCCTGGCTGGCCCTGGGGGAGACAATACCTTCATGGCCTGGGTGTCCTTGACCAAGATGGACCGCAGCTGCCCATTGAGCTCAAAGAAGACCTGCCTCTGGCCGGCCCGGTTCAGGTCGCTCACGGCCAGGGCTTTGATGTGCAGCGTCTTGCCCCGCTCCAGCTCCACCTGCAGGGAGGGTGTGCAGACTCAGAGCTGGACGCCAAGGTGGGAGAGCAGTCCCCCGGCCCTGGCCATAGGAAGTCCCCACACTGGGCCTTGGCTCCTCGTTCCTAAAGGCCTAGCTCCCGGTCTCAAGGGTCCTTTCTGCTCCCAAAGCTTGCGAGGCTGGGTGACAGCCAAGCTAAACTCCAGAGCTCTGGGGCAGGGGGCCAGGGTGGAGTGTGGAGAAGCGCCAGAGCCACTGACCTCAAACTCCTCTGCGATCTTGGGTCCCTGCAGGAAGAGGCGAGTATTCAGGCTATCCAGGGGGCCAAAGGTGGCAGTGAAGTCCTTGAAGTGGGCAAACACATCGGGGTACATAGCTGCTGAGAGCACATCTTCCGGCGTCACCTCCTCCCCATGCCGGTCTACCAGCTCCTTCTCCAGTGCCTGCAGATCCAGGGGAGGGAGGGAGGCTCCAGGCCGCCCCTCCACCCTTGGCAGGTCCTTCAGTACCTGGGGAGCAAAGCAGAGGATCAGTCCCAAGTCCTGCATCCAGCCCCCACCCTCACACCATGCTGGGCCTTCCCTACCTTAGAGCGAAAGGGTTCGGGGAACCCCCCATGGGGGACACCGATGTAGCCCTGCAGGAACTCCACCACGGAGCGGGGAAAGGACAGCTCTTCCGCCTGAGCTTCGGCCTCTGCCCGGCTCAATCCATTCTGCACCATAAACTGGGCCAGGTCCCCCACGATCTTGGAGGAGGGCGTCACCTGAGGAGAAGGCCCTGGAGGTTAGGGTGCCAGGCACCTCAAGGAGGCCAGTGGCAGGTGCATGCAGGGCTGGGTCAGGTAAGGAGCACCGGGCCGGGCTCACCTTGATGAGATCGCCCAGCATCTGGTTGGCCTCCACATAGGCCTTCTTGAACTCCTTGAACTTGGAGCCAAGCCCCATGCTGTGGGCCTGGAAGTGCAGGTTGGTGTACTGGCCCCCTGGGATCTCATTTTCATACACGTCCGAGTTGCCAGACTTCATGGTGGCCGTGCAGTCGAAGGCCGCGTACAGTCCCCGAGCCCCCTCCCAGTACTCACTGTAGTCAAACACGCGCTCCATGGGCACCTCTGCAGGGAGGCCAGAGTCAGAGGAGGCCTTAGAAATGTGTGACTCTTCCAGGACCCAGGGCTAGCTCAGGTCCCATGTCTGACTCAGGTGACAGAAGGCGGCAAGGCCAGAGCAGGGCATCTGGATCCTAGGCAGGTCCAACACTACTGGGACTGGTGGTGGCTGCGGCTTTGAGAGGGGTGTGGCCACGGGCTGCTGTTCTTCCTACCTGTGTCCAGGGGAGTCCCTCTGGTACAGGCCACCAGGGCCCCCATGCTGGGCTGTGAAGTCATCCCAGACATGGAATCAGCTGCCACATCCACCACATCAGCTCCAGCCTGGGCACAGGCCAGCATGGCTGCCACGCCTGCCCCTGACGTGTCGTGGGTGTGGATGTGCAGTGGGAGGTCGGGGAAGCGGTCCCGGAGGGAGCTGACCAGCATGGTGCAGGCCGTGGGCTTCAGCAGCCCGGCCATGTCCTGGGGGAAGTGGGAGAGAGAGAGAGAGAGATGGTAGAGAGGGCAGGATGTGTGCCTGTGGGTGGCGGGGACATGGCCGGGGCAGAGAGGGAGGGACGGACAAGTGGCCCAGGCACCTTGATGCACAGGATGTGGGTGCCAGCTCGCACCAGCTCTTCGGCCAAGCCCATGTAGTACTGCAGTGAGTACTTGGTGCGGCTGGGGTCGGCCACGTCGCCCGTGTATGAGATGGCAGCCTCCACCACGCCTCCGGCACTTCCTGCCGCCTCCATGCCCAGCAGCATGTTGGGCAAGTAGTTGAGGGAGTCAAACACACGGAAGACATCCATGCCATTCTCTTTGGCCACTTCACAGAACCTGCAAGGGTGAGAGAGCCCAGGGCTGAGCCCCACCCCACCTCCCTCTGAACAGTCTTCCCTGGCTCCTTCCTGACCCACTCTATGGCCCCTGGGGAATGAGATCTGAGGGTCTCGCCTGGCAGGGGGTGTGGCATCCACAGGCGGGGGGTGGCCACACAAGTGTGGACCAGGCCCTGGAGGATCAGCTAGGCCAGTGGCAGGCTGTGGAAGAGGGTACTGAGCAAGGAGTCTTGAGGCCTGGGTTCCAATCCCAGCCCTGCACCGAGTGACCCAGGCAAGTCTCAGACCTTCCACTGCCCCAGGAGTGAGGGAGTGATTTAGAAGCCTGTCTGGTTCTGCAACTCCAATTTTACACTTCTCGATATTTCCAAACAGCAGCCCCTGCTGCGTGTGGCCACAGAGAGACTTGGTGTCAGGCTGACCGTGGAGAACAGAGGCCATCACGACATGGCTCGGTACCCTCTGGGCCACACCAGGTAGCGTCTGCCCACCCCACCCCAGGCTCACTTGAAGACCACGTTGTCTGGGTAGTTGGTGTAGCCCACAGCATTGGCCCCCCGCAGCAGCATCTGGAAAGGGATGTTGGGGATGAGCTCCCGGAGCTCCTGCAGCCGCCGCCAGGGGCACTCATACAGGAAGCGCATGGCGACGTCAAACGTGGCTCCTGCACAGGAACCGAGAGGCCCAGATCAGCTCTGCATGCCTGGGGAACTCCACCAGGCCTTGGAGCTAGCTCTGCAGCACAAGCCTCTGGCCCCAATACCAGGTCCTGCTCATCTTCGCCATACCTGTGTTCCCTGCTCCAACCCCCACAGATTTTTCCCTTGTCTGATCTCTAAGGGGGAGACCAGGCTCATTTGTGTCCCTTCTATGCCCCCTTTATAATCCCATCTTCTCCTCTACCTCTCTGTGCTATAATTAACAGGCAGGTGTCTCCTCCTGACCCTGGACCTCCCAGGATGCACCTGGTCTCAGCTCTGCAACCTCGTGCCGGCACCAGGCCTGGCCGGAGAGGGCGCTGTGCCTTCTTCGGTC
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Task1_train_16128
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The gene PC (pyruvate carboxylase) is located on Chromosome 11, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Congenital lactic acidosis
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CGGCCCGGCCTTCCTGGCCTCGGGCACTGGCTGGCCTGGGCCTGCCGTGGCAGCACAGCTTCTGTTGAAGGCTTGGGGATGGCCAGGCTGCCGGTCTGGGGCAAGATCACTCGATCTCCAGGATGAGGTCGTCACCTTCCAGTGTCATGTCCTTGGTCACATGAACCTTGCGGACAGTACCCTCCATGGGTGAGGTCACCACAGTCTCCATCTTCATGGCACTGAGCACACACAGGGGCTGGCCCTTGGCCACCTTGGCCCCTGCCACCACTTTGATGTCTATCACCTTCCCAGGCATGGGCGCCCCGATCTGGCCCTTCACGTCCTTTAGGGCCTTGGGGTGGAAGTGCATCTCCTGAAGACACAGGGCAGAGGGGACATGACATCCTGGGCCCAGCCAAGCCCCACCGCCTGGCTGGCCCTGGGGGAGACAATACCTTCATGGCCTGGGTGTCCTTGACCAAGATGGACCGCAGCTGCCCATTGAGCTCAAAGAAGACCTGCCTCTGGCCGGCCCGGTTCAGGTCGCTCACGGCCAGGGCTTTGATGTGCAGCGTCTTGCCCCGCTCCAGCTCCACCTGCAGGGAGGGTGTGCAGACTCAGAGCTGGACGCCAAGGTGGGAGAGCAGTCCCCCGGCCCTGGCCATAGGAAGTCCCCACACTGGGCCTTGGCTCCTCGTTCCTAAAGGCCTAGCTCCCGGTCTCAAGGGTCCTTTCTGCTCCCAAAGCTTGCGAGGCTGGGTGACAGCCAAGCTAAACTCCAGAGCTCTGGGGCAGGGGGCCAGGGTGGAGTGTGGAGAAGCGCCAGAGCCACTGACCTCAAACTCCTCTGCGATCTTGGGTCCCTGCAGGAAGAGGCGAGTATTCAGGCTATCCAGGGGGCCAAAGGTGGCAGTGAAGTCCTTGAAGTGGGCAAACACATCGGGGTACATAGCTGCTGAGAGCACATCTTCCGGCGTCACCTCCTCCCCATGCCGGTCTACCAGCTCCTTCTCCAGTGCCTGCAGATCCAGGGGAGGGAGGGAGGCTCCAGGCCGCCCCTCCACCCTTGGCAGGTCCTTCAGTACCTGGGGAGCAAAGCAGAGGATCAGTCCCAAGTCCTGCATCCAGCCCCCACCCTCACACCATGCTGGGCCTTCCCTACCTTAGAGCGAAAGGGTTCGGGGAACCCCCCATGGGGGACACCGATGTAGCCCTGCAGGAACTCCACCACGGAGCGGGGAAAGGACAGCTCTTCCGCCTGAGCTTCGGCCTCTGCCCGGCTCAATCCATTCTGCACCATAAACTGGGCCAGGTCCCCCACGATCTTGGAGGAGGGCGTCACCTGAGGAGAAGGCCCTGGAGGTTAGGGTGCCAGGCACCTCAAGGAGGCCAGTGGCAGGTGCATGCAGGGCTGGGTCAGGTAAGGAGCACCGGGCCGGGCTCACCTTGATGAGATCGCCCAGCATCTGGTTGGCCTCCACATAGGCCTTCTTGACCTCCTTGAACTTGGAGCCAAGCCCCATGCTGTGGGCCTGGAAGTGCAGGTTGGTGTACTGGCCCCCTGGGATCTCATTTTCATACACGTCCGAGTTGCCAGACTTCATGGTGGCCGTGCAGTCGAAGGCCGCGTACAGTCCCCGAGCCCCCTCCCAGTACTCACTGTAGTCAAACACGCGCTCCATGGGCACCTCTGCAGGGAGGCCAGAGTCAGAGGAGGCCTTAGAAATGTGTGACTCTTCCAGGACCCAGGGCTAGCTCAGGTCCCATGTCTGACTCAGGTGACAGAAGGCGGCAAGGCCAGAGCAGGGCATCTGGATCCTAGGCAGGTCCAACACTACTGGGACTGGTGGTGGCTGCGGCTTTGAGAGGGGTGTGGCCACGGGCTGCTGTTCTTCCTACCTGTGTCCAGGGGAGTCCCTCTGGTACAGGCCACCAGGGCCCCCATGCTGGGCTGTGAAGTCATCCCAGACATGGAATCAGCTGCCACATCCACCACATCAGCTCCAGCCTGGGCACAGGCCAGCATGGCTGCCACGCCTGCCCCTGACGTGTCGTGGGTGTGGATGTGCAGTGGGAGGTCGGGGAAGCGGTCCCGGAGGGAGCTGACCAGCATGGTGCAGGCCGTGGGCTTCAGCAGCCCGGCCATGTCCTGGGGGAAGTGGGAGAGAGAGAGAGAGAGATGGTAGAGAGGGCAGGATGTGTGCCTGTGGGTGGCGGGGACATGGCCGGGGCAGAGAGGGAGGGACGGACAAGTGGCCCAGGCACCTTGATGCACAGGATGTGGGTGCCAGCTCGCACCAGCTCTTCGGCCAAGCCCATGTAGTACTGCAGTGAGTACTTGGTGCGGCTGGGGTCGGCCACGTCGCCCGTGTATGAGATGGCAGCCTCCACCACGCCTCCGGCACTTCCTGCCGCCTCCATGCCCAGCAGCATGTTGGGCAAGTAGTTGAGGGAGTCAAACACACGGAAGACATCCATGCCATTCTCTTTGGCCACTTCACAGAACCTGCAAGGGTGAGAGAGCCCAGGGCTGAGCCCCACCCCACCTCCCTCTGAACAGTCTTCCCTGGCTCCTTCCTGACCCACTCTATGGCCCCTGGGGAATGAGATCTGAGGGTCTCGCCTGGCAGGGGGTGTGGCATCCACAGGCGGGGGGTGGCCACACAAGTGTGGACCAGGCCCTGGAGGATCAGCTAGGCCAGTGGCAGGCTGTGGAAGAGGGTACTGAGCAAGGAGTCTTGAGGCCTGGGTTCCAATCCCAGCCCTGCACCGAGTGACCCAGGCAAGTCTCAGACCTTCCACTGCCCCAGGAGTGAGGGAGTGATTTAGAAGCCTGTCTGGTTCTGCAACTCCAATTTTACACTTCTCGATATTTCCAAACAGCAGCCCCTGCTGCGTGTGGCCACAGAGAGACTTGGTGTCAGGCTGACCGTGGAGAACAGAGGCCATCACGACATGGCTCGGTACCCTCTGGGCCACACCAGGTAGCGTCTGCCCACCCCACCCCAGGCTCACTTGAAGACCACGTTGTCTGGGTAGTTGGTGTAGCCCACAGCATTGGCCCCCCGCAGCAGCATCTGGAAAGGGATGTTGGGGATGAGCTCCCGGAGCTCCTGCAGCCGCCGCCAGGGGCACTCATACAGGAAGCGCATGGCGACGTCAAACGTGGCTCCTGCACAGGAACCGAGAGGCCCAGATCAGCTCTGCATGCCTGGGGAACTCCACCAGGCCTTGGAGCTAGCTCTGCAGCACAAGCCTCTGGCCCCAATACCAGGTCCTGCTCATCTTCGCCATACCTGTGTTCCCTGCTCCAACCCCCACAGATTTTTCCCTTGTCTGATCTCTAAGGGGGAGACCAGGCTCATTTGTGTCCCTTCTATGCCCCCTTTATAATCCCATCTTCTCCTCTACCTCTCTGTGCTATAATTAACAGGCAGGTGTCTCCTCCTGACCCTGGACCTCCCAGGATGCACCTGGTCTCAGCTCTGCAACCTCGTGCCGGCACCAGGCCTGGCCGGAGAGGGCGCTGTGCCTTCTTCGGTCCTTCCTCTTTGGTGTTCTTCGTGTCAGCGTCTCTAGCTTGTCCCCAGTGGCCTAAGCCTGTGGGACTGGCCACAGAGCGGGCGCCCATTCCTACCAGGCGCTGCGCAGCATGCCAGCCTACCTCCCCAGTTCTCCATGCTGAAGAGCTTGCTGAAGTTGTGGGCAACATAGGGGGCGATCTTTTTGAGATCGTGGGTGCGCACACGAGTGGCCAGCAGTGACTGGTGGGCGTCCCTGAAGGTCGTGTCCATCAGCAGCAGCCCCGGGTGGTTCCGCACAGCTCGAGCAAAGCCCTCAGGCCCCTCTCGCAGCAGGATGTCTCTGAAACCAGCCGGGGGCGGGCCTAGGGTAGACAGGGGCATTGGTGCCCATCCTGCAGGTGGCAACCTCCTGTCTCCCCCATGAGTTGACAGAATGGATCTCACCTACCTATGGGCACTGCAGGGACAACGGGGTCCGTGGGGCTGGGGCTGGCCTTGACGGGAATCGGGGTGGTTGGACCGTTTACCATGACATGGCCTGGGGAGAAAGCGGGCAGTGGGTCAGGGTGGGCTGGGCAGAGGCTGAGTCG
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CGGCCCGGCCTTCCTGGCCTCGGGCACTGGCTGGCCTGGGCCTGCCGTGGCAGCACAGCTTCTGTTGAAGGCTTGGGGATGGCCAGGCTGCCGGTCTGGGGCAAGATCACTCGATCTCCAGGATGAGGTCGTCACCTTCCAGTGTCATGTCCTTGGTCACATGAACCTTGCGGACAGTACCCTCCATGGGTGAGGTCACCACAGTCTCCATCTTCATGGCACTGAGCACACACAGGGGCTGGCCCTTGGCCACCTTGGCCCCTGCCACCACTTTGATGTCTATCACCTTCCCAGGCATGGGCGCCCCGATCTGGCCCTTCACGTCCTTTAGGGCCTTGGGGTGGAAGTGCATCTCCTGAAGACACAGGGCAGAGGGGACATGACATCCTGGGCCCAGCCAAGCCCCACCGCCTGGCTGGCCCTGGGGGAGACAATACCTTCATGGCCTGGGTGTCCTTGACCAAGATGGACCGCAGCTGCCCATTGAGCTCAAAGAAGACCTGCCTCTGGCCGGCCCGGTTCAGGTCGCTCACGGCCAGGGCTTTGATGTGCAGCGTCTTGCCCCGCTCCAGCTCCACCTGCAGGGAGGGTGTGCAGACTCAGAGCTGGACGCCAAGGTGGGAGAGCAGTCCCCCGGCCCTGGCCATAGGAAGTCCCCACACTGGGCCTTGGCTCCTCGTTCCTAAAGGCCTAGCTCCCGGTCTCAAGGGTCCTTTCTGCTCCCAAAGCTTGCGAGGCTGGGTGACAGCCAAGCTAAACTCCAGAGCTCTGGGGCAGGGGGCCAGGGTGGAGTGTGGAGAAGCGCCAGAGCCACTGACCTCAAACTCCTCTGCGATCTTGGGTCCCTGCAGGAAGAGGCGAGTATTCAGGCTATCCAGGGGGCCAAAGGTGGCAGTGAAGTCCTTGAAGTGGGCAAACACATCGGGGTACATAGCTGCTGAGAGCACATCTTCCGGCGTCACCTCCTCCCCATGCCGGTCTACCAGCTCCTTCTCCAGTGCCTGCAGATCCAGGGGAGGGAGGGAGGCTCCAGGCCGCCCCTCCACCCTTGGCAGGTCCTTCAGTACCTGGGGAGCAAAGCAGAGGATCAGTCCCAAGTCCTGCATCCAGCCCCCACCCTCACACCATGCTGGGCCTTCCCTACCTTAGAGCGAAAGGGTTCGGGGAACCCCCCATGGGGGACACCGATGTAGCCCTGCAGGAACTCCACCACGGAGCGGGGAAAGGACAGCTCTTCCGCCTGAGCTTCGGCCTCTGCCCGGCTCAATCCATTCTGCACCATAAACTGGGCCAGGTCCCCCACGATCTTGGAGGAGGGCGTCACCTGAGGAGAAGGCCCTGGAGGTTAGGGTGCCAGGCACCTCAAGGAGGCCAGTGGCAGGTGCATGCAGGGCTGGGTCAGGTAAGGAGCACCGGGCCGGGCTCACCTTGATGAGATCGCCCAGCATCTGGTTGGCCTCCACATAGGCCTTCTTGACCTCCTTGAACTTGGAGCCAAGCCCCATGCTGTGGGCCTGGAAGTGCAGGTTGGTGTACTGGCCCCCTGGGATCTCATTTTCATACACGTCCGAGTTGCCAGACTTCATGGTGGCCGTGCAGTCGAAGGCCGCGTACAGTCCCCGAGCCCCCTCCCAGTACTCACTGTAGTCAAACACGCGCTCCATGGGCACCTCTGCAGGGAGGCCAGAGTCAGAGGAGGCCTTAGAAATGTGTGACTCTTCCAGGACCCAGGGCTAGCTCAGGTCCCATGTCTGACTCAGGTGACAGAAGGCGGCAAGGCCAGAGCAGGGCATCTGGATCCTAGGCAGGTCCAACACTACTGGGACTGGTGGTGGCTGCGGCTTTGAGAGGGGTGTGGCCACGGGCTGCTGTTCTTCCTACCTGTGTCCAGGGGAGTCCCTCTGGTACAGGCCACCAGGGCCCCCATGCTGGGCTGTGAAGTCATCCCAGACATGGAATCAGCTGCCACATCCACCACATCAGCTCCAGCCTGGGCACAGGCCAGCATGGCTGCCACGCCTGCCCCTGACGTGTCGTGGGTGTGGATGAGCAGTGGGAGGTCGGGGAAGCGGTCCCGGAGGGAGCTGACCAGCATGGTGCAGGCCGTGGGCTTCAGCAGCCCGGCCATGTCCTGGGGGAAGTGGGAGAGAGAGAGAGAGAGATGGTAGAGAGGGCAGGATGTGTGCCTGTGGGTGGCGGGGACATGGCCGGGGCAGAGAGGGAGGGACGGACAAGTGGCCCAGGCACCTTGATGCACAGGATGTGGGTGCCAGCTCGCACCAGCTCTTCGGCCAAGCCCATGTAGTACTGCAGTGAGTACTTGGTGCGGCTGGGGTCGGCCACGTCGCCCGTGTATGAGATGGCAGCCTCCACCACGCCTCCGGCACTTCCTGCCGCCTCCATGCCCAGCAGCATGTTGGGCAAGTAGTTGAGGGAGTCAAACACACGGAAGACATCCATGCCATTCTCTTTGGCCACTTCACAGAACCTGCAAGGGTGAGAGAGCCCAGGGCTGAGCCCCACCCCACCTCCCTCTGAACAGTCTTCCCTGGCTCCTTCCTGACCCACTCTATGGCCCCTGGGGAATGAGATCTGAGGGTCTCGCCTGGCAGGGGGTGTGGCATCCACAGGCGGGGGGTGGCCACACAAGTGTGGACCAGGCCCTGGAGGATCAGCTAGGCCAGTGGCAGGCTGTGGAAGAGGGTACTGAGCAAGGAGTCTTGAGGCCTGGGTTCCAATCCCAGCCCTGCACCGAGTGACCCAGGCAAGTCTCAGACCTTCCACTGCCCCAGGAGTGAGGGAGTGATTTAGAAGCCTGTCTGGTTCTGCAACTCCAATTTTACACTTCTCGATATTTCCAAACAGCAGCCCCTGCTGCGTGTGGCCACAGAGAGACTTGGTGTCAGGCTGACCGTGGAGAACAGAGGCCATCACGACATGGCTCGGTACCCTCTGGGCCACACCAGGTAGCGTCTGCCCACCCCACCCCAGGCTCACTTGAAGACCACGTTGTCTGGGTAGTTGGTGTAGCCCACAGCATTGGCCCCCCGCAGCAGCATCTGGAAAGGGATGTTGGGGATGAGCTCCCGGAGCTCCTGCAGCCGCCGCCAGGGGCACTCATACAGGAAGCGCATGGCGACGTCAAACGTGGCTCCTGCACAGGAACCGAGAGGCCCAGATCAGCTCTGCATGCCTGGGGAACTCCACCAGGCCTTGGAGCTAGCTCTGCAGCACAAGCCTCTGGCCCCAATACCAGGTCCTGCTCATCTTCGCCATACCTGTGTTCCCTGCTCCAACCCCCACAGATTTTTCCCTTGTCTGATCTCTAAGGGGGAGACCAGGCTCATTTGTGTCCCTTCTATGCCCCCTTTATAATCCCATCTTCTCCTCTACCTCTCTGTGCTATAATTAACAGGCAGGTGTCTCCTCCTGACCCTGGACCTCCCAGGATGCACCTGGTCTCAGCTCTGCAACCTCGTGCCGGCACCAGGCCTGGCCGGAGAGGGCGCTGTGCCTTCTTCGGTCCTTCCTCTTTGGTGTTCTTCGTGTCAGCGTCTCTAGCTTGTCCCCAGTGGCCTAAGCCTGTGGGACTGGCCACAGAGCGGGCGCCCATTCCTACCAGGCGCTGCGCAGCATGCCAGCCTACCTCCCCAGTTCTCCATGCTGAAGAGCTTGCTGAAGTTGTGGGCAACATAGGGGGCGATCTTTTTGAGATCGTGGGTGCGCACACGAGTGGCCAGCAGTGACTGGTGGGCGTCCCTGAAGGTCGTGTCCATCAGCAGCAGCCCCGGGTGGTTCCGCACAGCTCGAGCAAAGCCCTCAGGCCCCTCTCGCAGCAGGATGTCTCTGAAACCAGCCGGGGGCGGGCCTAGGGTAGACAGGGGCATTGGTGCCCATCCTGCAGGTGGCAACCTCCTGTCTCCCCCATGAGTTGACAGAATGGATCTCACCTACCTATGGGCACTGCAGGGACAACGGGGTCCGTGGGGCTGGGGCTGGCCTTGACGGGAATCGGGGTGGTTGGACCGTTTACCATGACATGGCCTGGGGAGAAAGCGGGCAGTGGGTCAGGGTGGGCTGGGCAGAGGCTGAGTCG
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Task1_train_16129
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This sequence change occurs on Chromosome 11, altering PC (pyruvate carboxylase). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Pyruvate carboxylase deficiency
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GATGGCCAGGCTGCCGGTCTGGGGCAAGATCACTCGATCTCCAGGATGAGGTCGTCACCTTCCAGTGTCATGTCCTTGGTCACATGAACCTTGCGGACAGTACCCTCCATGGGTGAGGTCACCACAGTCTCCATCTTCATGGCACTGAGCACACACAGGGGCTGGCCCTTGGCCACCTTGGCCCCTGCCACCACTTTGATGTCTATCACCTTCCCAGGCATGGGCGCCCCGATCTGGCCCTTCACGTCCTTTAGGGCCTTGGGGTGGAAGTGCATCTCCTGAAGACACAGGGCAGAGGGGACATGACATCCTGGGCCCAGCCAAGCCCCACCGCCTGGCTGGCCCTGGGGGAGACAATACCTTCATGGCCTGGGTGTCCTTGACCAAGATGGACCGCAGCTGCCCATTGAGCTCAAAGAAGACCTGCCTCTGGCCGGCCCGGTTCAGGTCGCTCACGGCCAGGGCTTTGATGTGCAGCGTCTTGCCCCGCTCCAGCTCCACCTGCAGGGAGGGTGTGCAGACTCAGAGCTGGACGCCAAGGTGGGAGAGCAGTCCCCCGGCCCTGGCCATAGGAAGTCCCCACACTGGGCCTTGGCTCCTCGTTCCTAAAGGCCTAGCTCCCGGTCTCAAGGGTCCTTTCTGCTCCCAAAGCTTGCGAGGCTGGGTGACAGCCAAGCTAAACTCCAGAGCTCTGGGGCAGGGGGCCAGGGTGGAGTGTGGAGAAGCGCCAGAGCCACTGACCTCAAACTCCTCTGCGATCTTGGGTCCCTGCAGGAAGAGGCGAGTATTCAGGCTATCCAGGGGGCCAAAGGTGGCAGTGAAGTCCTTGAAGTGGGCAAACACATCGGGGTACATAGCTGCTGAGAGCACATCTTCCGGCGTCACCTCCTCCCCATGCCGGTCTACCAGCTCCTTCTCCAGTGCCTGCAGATCCAGGGGAGGGAGGGAGGCTCCAGGCCGCCCCTCCACCCTTGGCAGGTCCTTCAGTACCTGGGGAGCAAAGCAGAGGATCAGTCCCAAGTCCTGCATCCAGCCCCCACCCTCACACCATGCTGGGCCTTCCCTACCTTAGAGCGAAAGGGTTCGGGGAACCCCCCATGGGGGACACCGATGTAGCCCTGCAGGAACTCCACCACGGAGCGGGGAAAGGACAGCTCTTCCGCCTGAGCTTCGGCCTCTGCCCGGCTCAATCCATTCTGCACCATAAACTGGGCCAGGTCCCCCACGATCTTGGAGGAGGGCGTCACCTGAGGAGAAGGCCCTGGAGGTTAGGGTGCCAGGCACCTCAAGGAGGCCAGTGGCAGGTGCATGCAGGGCTGGGTCAGGTAAGGAGCACCGGGCCGGGCTCACCTTGATGAGATCGCCCAGCATCTGGTTGGCCTCCACATAGGCCTTCTTGACCTCCTTGAACTTGGAGCCAAGCCCCATGCTGTGGGCCTGGAAGTGCAGGTTGGTGTACTGGCCCCCTGGGATCTCATTTTCATACACGTCCGAGTTGCCAGACTTCATGGTGGCCGTGCAGTCGAAGGCCGCGTACAGTCCCCGAGCCCCCTCCCAGTACTCACTGTAGTCAAACACGCGCTCCATGGGCACCTCTGCAGGGAGGCCAGAGTCAGAGGAGGCCTTAGAAATGTGTGACTCTTCCAGGACCCAGGGCTAGCTCAGGTCCCATGTCTGACTCAGGTGACAGAAGGCGGCAAGGCCAGAGCAGGGCATCTGGATCCTAGGCAGGTCCAACACTACTGGGACTGGTGGTGGCTGCGGCTTTGAGAGGGGTGTGGCCACGGGCTGCTGTTCTTCCTACCTGTGTCCAGGGGAGTCCCTCTGGTACAGGCCACCAGGGCCCCCATGCTGGGCTGTGAAGTCATCCCAGACATGGAATCAGCTGCCACATCCACCACATCAGCTCCAGCCTGGGCACAGGCCAGCATGGCTGCCACGCCTGCCCCTGACGTGTCGTGGGTGTGGATGTGCAGTGGGAGGTCGGGGAAGCGGTCCCGGAGGGAGCTGACCAGCATGGTGCAGGCCGTGGGCTTCAGCAGCCCGGCCATGTCCTGGGGGAAGTGGGAGAGAGAGAGAGAGAGATGGTAGAGAGGGCAGGATGTGTGCCTGTGGGTGGCGGGGACATGGCCGGGGCAGAGAGGGAGGGACGGACAAGTGGCCCAGGCACCTTGATGCACAGGATGTGGGTGCCAGCTCGCACCAGCTCTTCGGCCAAGCCCATGTAGTACTGCAGTGAGTACTTGGTGCGGCTGGGGTCGGCCACGTCGCCCGTGTATGAGATGGCAGCCTCCACCACGCCTCCGGCACTTCCTGCCGCCTCCATGCCCAGCAGCATGTTGGGCAAGTAGTTGAGGGAGTCAAACACACGGAAGACATCCATGCCATTCTCTTTGGCCACTTCACAGAACCTGCAAGGGTGAGAGAGCCCAGGGCTGAGCCCCACCCCACCTCCCTCTGAACAGTCTTCCCTGGCTCCTTCCTGACCCACTCTATGGCCCCTGGGGAATGAGATCTGAGGGTCTCGCCTGGCAGGGGGTGTGGCATCCACAGGCGGGGGGTGGCCACACAAGTGTGGACCAGGCCCTGGAGGATCAGCTAGGCCAGTGGCAGGCTGTGGAAGAGGGTACTGAGCAAGGAGTCTTGAGGCCTGGGTTCCAATCCCAGCCCTGCACCGAGTGACCCAGGCAAGTCTCAGACCTTCCACTGCCCCAGGAGTGAGGGAGTGATTTAGAAGCCTGTCTGGTTCTGCAACTCCAATTTTACACTTCTCGATATTTCCAAACAGCAGCCCCTGCTGCGTGTGGCCACAGAGAGACTTGGTGTCAGGCTGACCGTGGAGAACAGAGGCCATCACGACATGGCTCGGTACCCTCTGGGCCACACCAGGTAGCGTCTGCCCACCCCACCCCAGGCTCACTTGAAGACCACGTTGTCTGGGTAGTTGGTGTAGCCCACAGCATTGGCCCCCCGCAGCAGCATCTGGAAAGGGATGTTGGGGATGAGCTCCCGGAGCTCCTGCAGCCGCCGCCAGGGGCACTCATACAGGAAGCGCATGGCGACGTCAAACGTGGCTCCTGCACAGGAACCGAGAGGCCCAGATCAGCTCTGCATGCCTGGGGAACTCCACCAGGCCTTGGAGCTAGCTCTGCAGCACAAGCCTCTGGCCCCAATACCAGGTCCTGCTCATCTTCGCCATACCTGTGTTCCCTGCTCCAACCCCCACAGATTTTTCCCTTGTCTGATCTCTAAGGGGGAGACCAGGCTCATTTGTGTCCCTTCTATGCCCCCTTTATAATCCCATCTTCTCCTCTACCTCTCTGTGCTATAATTAACAGGCAGGTGTCTCCTCCTGACCCTGGACCTCCCAGGATGCACCTGGTCTCAGCTCTGCAACCTCGTGCCGGCACCAGGCCTGGCCGGAGAGGGCGCTGTGCCTTCTTCGGTCCTTCCTCTTTGGTGTTCTTCGTGTCAGCGTCTCTAGCTTGTCCCCAGTGGCCTAAGCCTGTGGGACTGGCCACAGAGCGGGCGCCCATTCCTACCAGGCGCTGCGCAGCATGCCAGCCTACCTCCCCAGTTCTCCATGCTGAAGAGCTTGCTGAAGTTGTGGGCAACATAGGGGGCGATCTTTTTGAGATCGTGGGTGCGCACACGAGTGGCCAGCAGTGACTGGTGGGCGTCCCTGAAGGTCGTGTCCATCAGCAGCAGCCCCGGGTGGTTCCGCACAGCTCGAGCAAAGCCCTCAGGCCCCTCTCGCAGCAGGATGTCTCTGAAACCAGCCGGGGGCGGGCCTAGGGTAGACAGGGGCATTGGTGCCCATCCTGCAGGTGGCAACCTCCTGTCTCCCCCATGAGTTGACAGAATGGATCTCACCTACCTATGGGCACTGCAGGGACAACGGGGTCCGTGGGGCTGGGGCTGGCCTTGACGGGAATCGGGGTGGTTGGACCGTTTACCATGACATGGCCTGGGGAGAAAGCGGGCAGTGGGTCAGGGTGGGCTGGGCAGAGGCTGAGTCGAGGGCAGCAGTGAGAGTGGCTGGGCTCAGGGACAGGGACACATCCCTCCAGGATCCCCGGGCTTCCAGCTGGCCCCT
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GATGGCCAGGCTGCCGGTCTGGGGCAAGATCACTCGATCTCCAGGATGAGGTCGTCACCTTCCAGTGTCATGTCCTTGGTCACATGAACCTTGCGGACAGTACCCTCCATGGGTGAGGTCACCACAGTCTCCATCTTCATGGCACTGAGCACACACAGGGGCTGGCCCTTGGCCACCTTGGCCCCTGCCACCACTTTGATGTCTATCACCTTCCCAGGCATGGGCGCCCCGATCTGGCCCTTCACGTCCTTTAGGGCCTTGGGGTGGAAGTGCATCTCCTGAAGACACAGGGCAGAGGGGACATGACATCCTGGGCCCAGCCAAGCCCCACCGCCTGGCTGGCCCTGGGGGAGACAATACCTTCATGGCCTGGGTGTCCTTGACCAAGATGGACCGCAGCTGCCCATTGAGCTCAAAGAAGACCTGCCTCTGGCCGGCCCGGTTCAGGTCGCTCACGGCCAGGGCTTTGATGTGCAGCGTCTTGCCCCGCTCCAGCTCCACCTGCAGGGAGGGTGTGCAGACTCAGAGCTGGACGCCAAGGTGGGAGAGCAGTCCCCCGGCCCTGGCCATAGGAAGTCCCCACACTGGGCCTTGGCTCCTCGTTCCTAAAGGCCTAGCTCCCGGTCTCAAGGGTCCTTTCTGCTCCCAAAGCTTGCGAGGCTGGGTGACAGCCAAGCTAAACTCCAGAGCTCTGGGGCAGGGGGCCAGGGTGGAGTGTGGAGAAGCGCCAGAGCCACTGACCTCAAACTCCTCTGCGATCTTGGGTCCCTGCAGGAAGAGGCGAGTATTCAGGCTATCCAGGGGGCCAAAGGTGGCAGTGAAGTCCTTGAAGTGGGCAAACACATCGGGGTACATAGCTGCTGAGAGCACATCTTCCGGCGTCACCTCCTCCCCATGCCGGTCTACCAGCTCCTTCTCCAGTGCCTGCAGATCCAGGGGAGGGAGGGAGGCTCCAGGCCGCCCCTCCACCCTTGGCAGGTCCTTCAGTACCTGGGGAGCAAAGCAGAGGATCAGTCCCAAGTCCTGCATCCAGCCCCCACCCTCACACCATGCTGGGCCTTCCCTACCTTAGAGCGAAAGGGTTCGGGGAACCCCCCATGGGGGACACCGATGTAGCCCTGCAGGAACTCCACCACGGAGCGGGGAAAGGACAGCTCTTCCGCCTGAGCTTCGGCCTCTGCCCGGCTCAATCCATTCTGCACCATAAACTGGGCCAGGTCCCCCACGATCTTGGAGGAGGGCGTCACCTGAGGAGAAGGCCCTGGAGGTTAGGGTGCCAGGCACCTCAAGGAGGCCAGTGGCAGGTGCATGCAGGGCTGGGTCAGGTAAGGAGCACCGGGCCGGGCTCACCTTGATGAGATCGCCCAGCATCTGGTTGGCCTCCACATAGGCCTTCTTGACCTCCTTGAACTTGGAGCCAAGCCCCATGCTGTGGGCCTGGAAGTGCAGGTTGGTGTACTGGCCCCCTGGGATCTCATTTTCATACACGTCCGAGTTGCCAGACTTCATGGTGGCCGTGCAGTCGAAGGCCGCGTACAGTCCCCGAGCCCCCTCCCAGTACTCACTGTAGTCAAACACGCGCTCCATGGGCACCTCTGCAGGGAGGCCAGAGTCAGAGGAGGCCTTAGAAATGTGTGACTCTTCCAGGACCCAGGGCTAGCTCAGGTCCCATGTCTGACTCAGGTGACAGAAGGCGGCAAGGCCAGAGCAGGGCATCTGGATCCTAGGCAGGTCCAACACTACTGGGACTGGTGGTGGCTGCGGCTTTGAGAGGGGTGTGGCCACGGGCTGCTGTTCTTCCTACCTGTGTCCAGGGGAGTCCCTCTGGTACAGGCCACCAGGGCCCCCATGCTGGGCTGTGAAGTCATCCCAGACATGGAATCAGCTGCCACATCCACCACATCAGCTCCAGCCTGGGCACAGGCCAGCATGGCTGCCACGCCTGCCCCTGACGTGTCGTGGGTGTGGATGTGCAGTGGGAGGTCGGGGAAGCGGTCCCGGAGGGAGCTGACCAGCATGGTGCAGGCCGTGGGCTTCAGCAGCCCGGCAATGTCCTGGGGGAAGTGGGAGAGAGAGAGAGAGAGATGGTAGAGAGGGCAGGATGTGTGCCTGTGGGTGGCGGGGACATGGCCGGGGCAGAGAGGGAGGGACGGACAAGTGGCCCAGGCACCTTGATGCACAGGATGTGGGTGCCAGCTCGCACCAGCTCTTCGGCCAAGCCCATGTAGTACTGCAGTGAGTACTTGGTGCGGCTGGGGTCGGCCACGTCGCCCGTGTATGAGATGGCAGCCTCCACCACGCCTCCGGCACTTCCTGCCGCCTCCATGCCCAGCAGCATGTTGGGCAAGTAGTTGAGGGAGTCAAACACACGGAAGACATCCATGCCATTCTCTTTGGCCACTTCACAGAACCTGCAAGGGTGAGAGAGCCCAGGGCTGAGCCCCACCCCACCTCCCTCTGAACAGTCTTCCCTGGCTCCTTCCTGACCCACTCTATGGCCCCTGGGGAATGAGATCTGAGGGTCTCGCCTGGCAGGGGGTGTGGCATCCACAGGCGGGGGGTGGCCACACAAGTGTGGACCAGGCCCTGGAGGATCAGCTAGGCCAGTGGCAGGCTGTGGAAGAGGGTACTGAGCAAGGAGTCTTGAGGCCTGGGTTCCAATCCCAGCCCTGCACCGAGTGACCCAGGCAAGTCTCAGACCTTCCACTGCCCCAGGAGTGAGGGAGTGATTTAGAAGCCTGTCTGGTTCTGCAACTCCAATTTTACACTTCTCGATATTTCCAAACAGCAGCCCCTGCTGCGTGTGGCCACAGAGAGACTTGGTGTCAGGCTGACCGTGGAGAACAGAGGCCATCACGACATGGCTCGGTACCCTCTGGGCCACACCAGGTAGCGTCTGCCCACCCCACCCCAGGCTCACTTGAAGACCACGTTGTCTGGGTAGTTGGTGTAGCCCACAGCATTGGCCCCCCGCAGCAGCATCTGGAAAGGGATGTTGGGGATGAGCTCCCGGAGCTCCTGCAGCCGCCGCCAGGGGCACTCATACAGGAAGCGCATGGCGACGTCAAACGTGGCTCCTGCACAGGAACCGAGAGGCCCAGATCAGCTCTGCATGCCTGGGGAACTCCACCAGGCCTTGGAGCTAGCTCTGCAGCACAAGCCTCTGGCCCCAATACCAGGTCCTGCTCATCTTCGCCATACCTGTGTTCCCTGCTCCAACCCCCACAGATTTTTCCCTTGTCTGATCTCTAAGGGGGAGACCAGGCTCATTTGTGTCCCTTCTATGCCCCCTTTATAATCCCATCTTCTCCTCTACCTCTCTGTGCTATAATTAACAGGCAGGTGTCTCCTCCTGACCCTGGACCTCCCAGGATGCACCTGGTCTCAGCTCTGCAACCTCGTGCCGGCACCAGGCCTGGCCGGAGAGGGCGCTGTGCCTTCTTCGGTCCTTCCTCTTTGGTGTTCTTCGTGTCAGCGTCTCTAGCTTGTCCCCAGTGGCCTAAGCCTGTGGGACTGGCCACAGAGCGGGCGCCCATTCCTACCAGGCGCTGCGCAGCATGCCAGCCTACCTCCCCAGTTCTCCATGCTGAAGAGCTTGCTGAAGTTGTGGGCAACATAGGGGGCGATCTTTTTGAGATCGTGGGTGCGCACACGAGTGGCCAGCAGTGACTGGTGGGCGTCCCTGAAGGTCGTGTCCATCAGCAGCAGCCCCGGGTGGTTCCGCACAGCTCGAGCAAAGCCCTCAGGCCCCTCTCGCAGCAGGATGTCTCTGAAACCAGCCGGGGGCGGGCCTAGGGTAGACAGGGGCATTGGTGCCCATCCTGCAGGTGGCAACCTCCTGTCTCCCCCATGAGTTGACAGAATGGATCTCACCTACCTATGGGCACTGCAGGGACAACGGGGTCCGTGGGGCTGGGGCTGGCCTTGACGGGAATCGGGGTGGTTGGACCGTTTACCATGACATGGCCTGGGGAGAAAGCGGGCAGTGGGTCAGGGTGGGCTGGGCAGAGGCTGAGTCGAGGGCAGCAGTGAGAGTGGCTGGGCTCAGGGACAGGGACACATCCCTCCAGGATCCCCGGGCTTCCAGCTGGCCCCT
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Task1_train_16130
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This variant affects the gene PC (pyruvate carboxylase) found on Chromosome 11. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Pyruvate carboxylase deficiency
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CCTCCACCCTTGGCAGGTCCTTCAGTACCTGGGGAGCAAAGCAGAGGATCAGTCCCAAGTCCTGCATCCAGCCCCCACCCTCACACCATGCTGGGCCTTCCCTACCTTAGAGCGAAAGGGTTCGGGGAACCCCCCATGGGGGACACCGATGTAGCCCTGCAGGAACTCCACCACGGAGCGGGGAAAGGACAGCTCTTCCGCCTGAGCTTCGGCCTCTGCCCGGCTCAATCCATTCTGCACCATAAACTGGGCCAGGTCCCCCACGATCTTGGAGGAGGGCGTCACCTGAGGAGAAGGCCCTGGAGGTTAGGGTGCCAGGCACCTCAAGGAGGCCAGTGGCAGGTGCATGCAGGGCTGGGTCAGGTAAGGAGCACCGGGCCGGGCTCACCTTGATGAGATCGCCCAGCATCTGGTTGGCCTCCACATAGGCCTTCTTGACCTCCTTGAACTTGGAGCCAAGCCCCATGCTGTGGGCCTGGAAGTGCAGGTTGGTGTACTGGCCCCCTGGGATCTCATTTTCATACACGTCCGAGTTGCCAGACTTCATGGTGGCCGTGCAGTCGAAGGCCGCGTACAGTCCCCGAGCCCCCTCCCAGTACTCACTGTAGTCAAACACGCGCTCCATGGGCACCTCTGCAGGGAGGCCAGAGTCAGAGGAGGCCTTAGAAATGTGTGACTCTTCCAGGACCCAGGGCTAGCTCAGGTCCCATGTCTGACTCAGGTGACAGAAGGCGGCAAGGCCAGAGCAGGGCATCTGGATCCTAGGCAGGTCCAACACTACTGGGACTGGTGGTGGCTGCGGCTTTGAGAGGGGTGTGGCCACGGGCTGCTGTTCTTCCTACCTGTGTCCAGGGGAGTCCCTCTGGTACAGGCCACCAGGGCCCCCATGCTGGGCTGTGAAGTCATCCCAGACATGGAATCAGCTGCCACATCCACCACATCAGCTCCAGCCTGGGCACAGGCCAGCATGGCTGCCACGCCTGCCCCTGACGTGTCGTGGGTGTGGATGTGCAGTGGGAGGTCGGGGAAGCGGTCCCGGAGGGAGCTGACCAGCATGGTGCAGGCCGTGGGCTTCAGCAGCCCGGCCATGTCCTGGGGGAAGTGGGAGAGAGAGAGAGAGAGATGGTAGAGAGGGCAGGATGTGTGCCTGTGGGTGGCGGGGACATGGCCGGGGCAGAGAGGGAGGGACGGACAAGTGGCCCAGGCACCTTGATGCACAGGATGTGGGTGCCAGCTCGCACCAGCTCTTCGGCCAAGCCCATGTAGTACTGCAGTGAGTACTTGGTGCGGCTGGGGTCGGCCACGTCGCCCGTGTATGAGATGGCAGCCTCCACCACGCCTCCGGCACTTCCTGCCGCCTCCATGCCCAGCAGCATGTTGGGCAAGTAGTTGAGGGAGTCAAACACACGGAAGACATCCATGCCATTCTCTTTGGCCACTTCACAGAACCTGCAAGGGTGAGAGAGCCCAGGGCTGAGCCCCACCCCACCTCCCTCTGAACAGTCTTCCCTGGCTCCTTCCTGACCCACTCTATGGCCCCTGGGGAATGAGATCTGAGGGTCTCGCCTGGCAGGGGGTGTGGCATCCACAGGCGGGGGGTGGCCACACAAGTGTGGACCAGGCCCTGGAGGATCAGCTAGGCCAGTGGCAGGCTGTGGAAGAGGGTACTGAGCAAGGAGTCTTGAGGCCTGGGTTCCAATCCCAGCCCTGCACCGAGTGACCCAGGCAAGTCTCAGACCTTCCACTGCCCCAGGAGTGAGGGAGTGATTTAGAAGCCTGTCTGGTTCTGCAACTCCAATTTTACACTTCTCGATATTTCCAAACAGCAGCCCCTGCTGCGTGTGGCCACAGAGAGACTTGGTGTCAGGCTGACCGTGGAGAACAGAGGCCATCACGACATGGCTCGGTACCCTCTGGGCCACACCAGGTAGCGTCTGCCCACCCCACCCCAGGCTCACTTGAAGACCACGTTGTCTGGGTAGTTGGTGTAGCCCACAGCATTGGCCCCCCGCAGCAGCATCTGGAAAGGGATGTTGGGGATGAGCTCCCGGAGCTCCTGCAGCCGCCGCCAGGGGCACTCATACAGGAAGCGCATGGCGACGTCAAACGTGGCTCCTGCACAGGAACCGAGAGGCCCAGATCAGCTCTGCATGCCTGGGGAACTCCACCAGGCCTTGGAGCTAGCTCTGCAGCACAAGCCTCTGGCCCCAATACCAGGTCCTGCTCATCTTCGCCATACCTGTGTTCCCTGCTCCAACCCCCACAGATTTTTCCCTTGTCTGATCTCTAAGGGGGAGACCAGGCTCATTTGTGTCCCTTCTATGCCCCCTTTATAATCCCATCTTCTCCTCTACCTCTCTGTGCTATAATTAACAGGCAGGTGTCTCCTCCTGACCCTGGACCTCCCAGGATGCACCTGGTCTCAGCTCTGCAACCTCGTGCCGGCACCAGGCCTGGCCGGAGAGGGCGCTGTGCCTTCTTCGGTCCTTCCTCTTTGGTGTTCTTCGTGTCAGCGTCTCTAGCTTGTCCCCAGTGGCCTAAGCCTGTGGGACTGGCCACAGAGCGGGCGCCCATTCCTACCAGGCGCTGCGCAGCATGCCAGCCTACCTCCCCAGTTCTCCATGCTGAAGAGCTTGCTGAAGTTGTGGGCAACATAGGGGGCGATCTTTTTGAGATCGTGGGTGCGCACACGAGTGGCCAGCAGTGACTGGTGGGCGTCCCTGAAGGTCGTGTCCATCAGCAGCAGCCCCGGGTGGTTCCGCACAGCTCGAGCAAAGCCCTCAGGCCCCTCTCGCAGCAGGATGTCTCTGAAACCAGCCGGGGGCGGGCCTAGGGTAGACAGGGGCATTGGTGCCCATCCTGCAGGTGGCAACCTCCTGTCTCCCCCATGAGTTGACAGAATGGATCTCACCTACCTATGGGCACTGCAGGGACAACGGGGTCCGTGGGGCTGGGGCTGGCCTTGACGGGAATCGGGGTGGTTGGACCGTTTACCATGACATGGCCTGGGGAGAAAGCGGGCAGTGGGTCAGGGTGGGCTGGGCAGAGGCTGAGTCGAGGGCAGCAGTGAGAGTGGCTGGGCTCAGGGACAGGGACACATCCCTCCAGGATCCCCGGGCTTCCAGCTGGCCCCTGTCCTCTCCAAAGCCAGGGCCTCCTGGGTACAGGCAGTGGGGACGTCTTGAGGACCACGTGGATGGAAAGGTGGGGTCTCTCAGATCAGAAGCAAGGAGAGCAGTGAATGGCAGGGTGCAGGACAAGAGGACGCAGGGCCAGAATGAGGGCAGGGGTGAGGGGCAGGGGGCACTAAGGAGTTCTTTGGTCATGGGGAGTGGCAAGGAGGTAGGAGCAAGAGATTGGAGAGCGGAGGGGAGGGGAGGGCAGGGCAGGGCAGTCTCGGGCCAGACCGAGGTAGTGCAACAGCTTTTGGGCCCGGTTCTGTGCAGGCCGCAGCTGGAACAGCTCTGGGTTCTCGTCGATGAACTGGGTGTCCACAGTGCCTGCCAGGAACTGCTGGTTGTTGAGCACATTCTGCAGGAAGGCGATGTTGGTCTGCAGGACAGAGGCGGGTGGGAGGGGGTCACCATGCAGCACAGACAGGGAAGGCAGAGGAGAAAAGGCTGAAAGAGAAAAGGCTGAAGATGCTGCCCTGGGCCAGCACAGCTTCTGGGCCTCCCTGCAGAGGGGCACTTCCCCGTCCCTCAGCCCTCTCCTCACTCCAGCAGAGCCCCCTAAGCTGTCACGGGCTGGGCCTGCTCCCTCCATACTTGTTTACACCAAAGCATGTGCTGAAGGCCACCCTTCCTGCCTCCCCGCAGCCTAGAACAGGGCTCAGCCTTTTTCTCCAGCAGCGTGGCCCACAGCAGTCACCCTTGCCCCTCGTCCACGCTTCTCGAAAGAGGGCCTTGACCGCAACAGACCACACTCTGGCACTCTAAGTCACTCCTCCCAGCTGAGTCCAGCGGGCATGCTCCCGCCTTGCTGCTCGTTCCCTGGGCTTCCAAGCCATCTTGCTCTCCTGTCCTCTTCCTCCCCAGCTCCTCACACACCACATGCTCCCCAGGAGGCCCCGTCCCGGGGCTGTGGCGCCAGTGAC
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CCTCCACCCTTGGCAGGTCCTTCAGTACCTGGGGAGCAAAGCAGAGGATCAGTCCCAAGTCCTGCATCCAGCCCCCACCCTCACACCATGCTGGGCCTTCCCTACCTTAGAGCGAAAGGGTTCGGGGAACCCCCCATGGGGGACACCGATGTAGCCCTGCAGGAACTCCACCACGGAGCGGGGAAAGGACAGCTCTTCCGCCTGAGCTTCGGCCTCTGCCCGGCTCAATCCATTCTGCACCATAAACTGGGCCAGGTCCCCCACGATCTTGGAGGAGGGCGTCACCTGAGGAGAAGGCCCTGGAGGTTAGGGTGCCAGGCACCTCAAGGAGGCCAGTGGCAGGTGCATGCAGGGCTGGGTCAGGTAAGGAGCACCGGGCCGGGCTCACCTTGATGAGATCGCCCAGCATCTGGTTGGCCTCCACATAGGCCTTCTTGACCTCCTTGAACTTGGAGCCAAGCCCCATGCTGTGGGCCTGGAAGTGCAGGTTGGTGTACTGGCCCCCTGGGATCTCATTTTCATACACGTCCGAGTTGCCAGACTTCATGGTGGCCGTGCAGTCGAAGGCCGCGTACAGTCCCCGAGCCCCCTCCCAGTACTCACTGTAGTCAAACACGCGCTCCATGGGCACCTCTGCAGGGAGGCCAGAGTCAGAGGAGGCCTTAGAAATGTGTGACTCTTCCAGGACCCAGGGCTAGCTCAGGTCCCATGTCTGACTCAGGTGACAGAAGGCGGCAAGGCCAGAGCAGGGCATCTGGATCCTAGGCAGGTCCAACACTACTGGGACTGGTGGTGGCTGCGGCTTTGAGAGGGGTGTGGCCACGGGCTGCTGTTCTTCCTACCTGTGTCCAGGGGAGTCCCTCTGGTACAGGCCACCAGGGCCCCCATGCTGGGCTGTGAAGTCATCCCAGACATGGAATCAGCTGCCACATCCACCACATCAGCTCCAGCCTGGGCACAGGCCAGCATGGCTGCCACGCCTGCCCCTGACGTGTCGTGGGTGTGGATGTGCAGTGGGAGGTCGGGGAAGCGGTCCCGGAGGGAGCTGACCAGCATGGTGCAGGCCGTGGGCTTCAGCAGCCCGGCCATGTCCTGGGGGAAGTGGGAGAGAGAGAGAGAGAGATGGTAGAGAGGGCAGGATGTGTGCCTGTGGGTGGCGGGGACATGGCCGGGGCAGAGAGGGAGGGACGGACAAGTGGCCCAGGCACCTTGATGCACAGGATGTGGGTGCCAGCTCGCACCAGCTCTTCGGCCAAGCCCATGTAGTACTGCAGTGAGTACTTGGTGCGGCTGGGGTCGGCCACGTCGCCCGTGTATGAGATGGCAGCCTCCACCACGCCTCCGGCACTTCCTGCCGCCTCCATGCCCAGCAGCATGTTGGGCAAGTAGTTGAGGGAGTCAAACACACGGAAGACATCCATGCCATTCTCTTTGGCCACTTCACAGAACCTGCAAGGGTGAGAGAGCCCAGGGCTGAGCCCCACCCCACCTCCCTCTGAACAGTCTTCCCTGGCTCCTTCCTGACCCACTCTATGGCCCCTGGGGAATGAGATCTGAGGGTCTCGCCTGGCAGGGGGTGTGGCATCCACAGGCGGGGGGTGGCCACACAAGTGTGGACCAGGCCCTGGAGGATCAGCTAGGCCAGTGGCAGGCTGTGGAAGAGGGTACTGAGCAAGGAGTCTTGAGGCCTGGGTTCCAATCCCAGCCCTGCACCGAGTGACCCAGGCAAGTCTCAGACCTTCCACTGCCCCAGGAGTGAGGGAGTGATTTAGAAGCCTGTCTGGTTCTGCAACTCCAATTTTACACTTCTCGATATTTCCAAACAGCAGCCCCTGCTGCGTGTGGCCACAGAGAGACTTGGTGTCAGGCTGACCGTGGAGAACAGAGGCCATCACGACATGGCTCGGTACCCTCTGGGCCACACCAGGTAGCGTCTGCCCACCCCACCCCAGGCTCACTTGAAGACCACGTTGTCTGGGTAGTTGGTGTAGCCCACAGCATTGGCCCCCCGCAGCAGCATCTGGAAAGGGATGTTGGGGATGAGCTCCTGGAGCTCCTGCAGCCGCCGCCAGGGGCACTCATACAGGAAGCGCATGGCGACGTCAAACGTGGCTCCTGCACAGGAACCGAGAGGCCCAGATCAGCTCTGCATGCCTGGGGAACTCCACCAGGCCTTGGAGCTAGCTCTGCAGCACAAGCCTCTGGCCCCAATACCAGGTCCTGCTCATCTTCGCCATACCTGTGTTCCCTGCTCCAACCCCCACAGATTTTTCCCTTGTCTGATCTCTAAGGGGGAGACCAGGCTCATTTGTGTCCCTTCTATGCCCCCTTTATAATCCCATCTTCTCCTCTACCTCTCTGTGCTATAATTAACAGGCAGGTGTCTCCTCCTGACCCTGGACCTCCCAGGATGCACCTGGTCTCAGCTCTGCAACCTCGTGCCGGCACCAGGCCTGGCCGGAGAGGGCGCTGTGCCTTCTTCGGTCCTTCCTCTTTGGTGTTCTTCGTGTCAGCGTCTCTAGCTTGTCCCCAGTGGCCTAAGCCTGTGGGACTGGCCACAGAGCGGGCGCCCATTCCTACCAGGCGCTGCGCAGCATGCCAGCCTACCTCCCCAGTTCTCCATGCTGAAGAGCTTGCTGAAGTTGTGGGCAACATAGGGGGCGATCTTTTTGAGATCGTGGGTGCGCACACGAGTGGCCAGCAGTGACTGGTGGGCGTCCCTGAAGGTCGTGTCCATCAGCAGCAGCCCCGGGTGGTTCCGCACAGCTCGAGCAAAGCCCTCAGGCCCCTCTCGCAGCAGGATGTCTCTGAAACCAGCCGGGGGCGGGCCTAGGGTAGACAGGGGCATTGGTGCCCATCCTGCAGGTGGCAACCTCCTGTCTCCCCCATGAGTTGACAGAATGGATCTCACCTACCTATGGGCACTGCAGGGACAACGGGGTCCGTGGGGCTGGGGCTGGCCTTGACGGGAATCGGGGTGGTTGGACCGTTTACCATGACATGGCCTGGGGAGAAAGCGGGCAGTGGGTCAGGGTGGGCTGGGCAGAGGCTGAGTCGAGGGCAGCAGTGAGAGTGGCTGGGCTCAGGGACAGGGACACATCCCTCCAGGATCCCCGGGCTTCCAGCTGGCCCCTGTCCTCTCCAAAGCCAGGGCCTCCTGGGTACAGGCAGTGGGGACGTCTTGAGGACCACGTGGATGGAAAGGTGGGGTCTCTCAGATCAGAAGCAAGGAGAGCAGTGAATGGCAGGGTGCAGGACAAGAGGACGCAGGGCCAGAATGAGGGCAGGGGTGAGGGGCAGGGGGCACTAAGGAGTTCTTTGGTCATGGGGAGTGGCAAGGAGGTAGGAGCAAGAGATTGGAGAGCGGAGGGGAGGGGAGGGCAGGGCAGGGCAGTCTCGGGCCAGACCGAGGTAGTGCAACAGCTTTTGGGCCCGGTTCTGTGCAGGCCGCAGCTGGAACAGCTCTGGGTTCTCGTCGATGAACTGGGTGTCCACAGTGCCTGCCAGGAACTGCTGGTTGTTGAGCACATTCTGCAGGAAGGCGATGTTGGTCTGCAGGACAGAGGCGGGTGGGAGGGGGTCACCATGCAGCACAGACAGGGAAGGCAGAGGAGAAAAGGCTGAAAGAGAAAAGGCTGAAGATGCTGCCCTGGGCCAGCACAGCTTCTGGGCCTCCCTGCAGAGGGGCACTTCCCCGTCCCTCAGCCCTCTCCTCACTCCAGCAGAGCCCCCTAAGCTGTCACGGGCTGGGCCTGCTCCCTCCATACTTGTTTACACCAAAGCATGTGCTGAAGGCCACCCTTCCTGCCTCCCCGCAGCCTAGAACAGGGCTCAGCCTTTTTCTCCAGCAGCGTGGCCCACAGCAGTCACCCTTGCCCCTCGTCCACGCTTCTCGAAAGAGGGCCTTGACCGCAACAGACCACACTCTGGCACTCTAAGTCACTCCTCCCAGCTGAGTCCAGCGGGCATGCTCCCGCCTTGCTGCTCGTTCCCTGGGCTTCCAAGCCATCTTGCTCTCCTGTCCTCTTCCTCCCCAGCTCCTCACACACCACATGCTCCCCAGGAGGCCCCGTCCCGGGGCTGTGGCGCCAGTGAC
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Task1_train_16131
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A variant has been detected on Chromosome 11 in PC (pyruvate carboxylase). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Pyruvate carboxylase deficiency
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CATCCAGCCCCCACCCTCACACCATGCTGGGCCTTCCCTACCTTAGAGCGAAAGGGTTCGGGGAACCCCCCATGGGGGACACCGATGTAGCCCTGCAGGAACTCCACCACGGAGCGGGGAAAGGACAGCTCTTCCGCCTGAGCTTCGGCCTCTGCCCGGCTCAATCCATTCTGCACCATAAACTGGGCCAGGTCCCCCACGATCTTGGAGGAGGGCGTCACCTGAGGAGAAGGCCCTGGAGGTTAGGGTGCCAGGCACCTCAAGGAGGCCAGTGGCAGGTGCATGCAGGGCTGGGTCAGGTAAGGAGCACCGGGCCGGGCTCACCTTGATGAGATCGCCCAGCATCTGGTTGGCCTCCACATAGGCCTTCTTGACCTCCTTGAACTTGGAGCCAAGCCCCATGCTGTGGGCCTGGAAGTGCAGGTTGGTGTACTGGCCCCCTGGGATCTCATTTTCATACACGTCCGAGTTGCCAGACTTCATGGTGGCCGTGCAGTCGAAGGCCGCGTACAGTCCCCGAGCCCCCTCCCAGTACTCACTGTAGTCAAACACGCGCTCCATGGGCACCTCTGCAGGGAGGCCAGAGTCAGAGGAGGCCTTAGAAATGTGTGACTCTTCCAGGACCCAGGGCTAGCTCAGGTCCCATGTCTGACTCAGGTGACAGAAGGCGGCAAGGCCAGAGCAGGGCATCTGGATCCTAGGCAGGTCCAACACTACTGGGACTGGTGGTGGCTGCGGCTTTGAGAGGGGTGTGGCCACGGGCTGCTGTTCTTCCTACCTGTGTCCAGGGGAGTCCCTCTGGTACAGGCCACCAGGGCCCCCATGCTGGGCTGTGAAGTCATCCCAGACATGGAATCAGCTGCCACATCCACCACATCAGCTCCAGCCTGGGCACAGGCCAGCATGGCTGCCACGCCTGCCCCTGACGTGTCGTGGGTGTGGATGTGCAGTGGGAGGTCGGGGAAGCGGTCCCGGAGGGAGCTGACCAGCATGGTGCAGGCCGTGGGCTTCAGCAGCCCGGCCATGTCCTGGGGGAAGTGGGAGAGAGAGAGAGAGAGATGGTAGAGAGGGCAGGATGTGTGCCTGTGGGTGGCGGGGACATGGCCGGGGCAGAGAGGGAGGGACGGACAAGTGGCCCAGGCACCTTGATGCACAGGATGTGGGTGCCAGCTCGCACCAGCTCTTCGGCCAAGCCCATGTAGTACTGCAGTGAGTACTTGGTGCGGCTGGGGTCGGCCACGTCGCCCGTGTATGAGATGGCAGCCTCCACCACGCCTCCGGCACTTCCTGCCGCCTCCATGCCCAGCAGCATGTTGGGCAAGTAGTTGAGGGAGTCAAACACACGGAAGACATCCATGCCATTCTCTTTGGCCACTTCACAGAACCTGCAAGGGTGAGAGAGCCCAGGGCTGAGCCCCACCCCACCTCCCTCTGAACAGTCTTCCCTGGCTCCTTCCTGACCCACTCTATGGCCCCTGGGGAATGAGATCTGAGGGTCTCGCCTGGCAGGGGGTGTGGCATCCACAGGCGGGGGGTGGCCACACAAGTGTGGACCAGGCCCTGGAGGATCAGCTAGGCCAGTGGCAGGCTGTGGAAGAGGGTACTGAGCAAGGAGTCTTGAGGCCTGGGTTCCAATCCCAGCCCTGCACCGAGTGACCCAGGCAAGTCTCAGACCTTCCACTGCCCCAGGAGTGAGGGAGTGATTTAGAAGCCTGTCTGGTTCTGCAACTCCAATTTTACACTTCTCGATATTTCCAAACAGCAGCCCCTGCTGCGTGTGGCCACAGAGAGACTTGGTGTCAGGCTGACCGTGGAGAACAGAGGCCATCACGACATGGCTCGGTACCCTCTGGGCCACACCAGGTAGCGTCTGCCCACCCCACCCCAGGCTCACTTGAAGACCACGTTGTCTGGGTAGTTGGTGTAGCCCACAGCATTGGCCCCCCGCAGCAGCATCTGGAAAGGGATGTTGGGGATGAGCTCCCGGAGCTCCTGCAGCCGCCGCCAGGGGCACTCATACAGGAAGCGCATGGCGACGTCAAACGTGGCTCCTGCACAGGAACCGAGAGGCCCAGATCAGCTCTGCATGCCTGGGGAACTCCACCAGGCCTTGGAGCTAGCTCTGCAGCACAAGCCTCTGGCCCCAATACCAGGTCCTGCTCATCTTCGCCATACCTGTGTTCCCTGCTCCAACCCCCACAGATTTTTCCCTTGTCTGATCTCTAAGGGGGAGACCAGGCTCATTTGTGTCCCTTCTATGCCCCCTTTATAATCCCATCTTCTCCTCTACCTCTCTGTGCTATAATTAACAGGCAGGTGTCTCCTCCTGACCCTGGACCTCCCAGGATGCACCTGGTCTCAGCTCTGCAACCTCGTGCCGGCACCAGGCCTGGCCGGAGAGGGCGCTGTGCCTTCTTCGGTCCTTCCTCTTTGGTGTTCTTCGTGTCAGCGTCTCTAGCTTGTCCCCAGTGGCCTAAGCCTGTGGGACTGGCCACAGAGCGGGCGCCCATTCCTACCAGGCGCTGCGCAGCATGCCAGCCTACCTCCCCAGTTCTCCATGCTGAAGAGCTTGCTGAAGTTGTGGGCAACATAGGGGGCGATCTTTTTGAGATCGTGGGTGCGCACACGAGTGGCCAGCAGTGACTGGTGGGCGTCCCTGAAGGTCGTGTCCATCAGCAGCAGCCCCGGGTGGTTCCGCACAGCTCGAGCAAAGCCCTCAGGCCCCTCTCGCAGCAGGATGTCTCTGAAACCAGCCGGGGGCGGGCCTAGGGTAGACAGGGGCATTGGTGCCCATCCTGCAGGTGGCAACCTCCTGTCTCCCCCATGAGTTGACAGAATGGATCTCACCTACCTATGGGCACTGCAGGGACAACGGGGTCCGTGGGGCTGGGGCTGGCCTTGACGGGAATCGGGGTGGTTGGACCGTTTACCATGACATGGCCTGGGGAGAAAGCGGGCAGTGGGTCAGGGTGGGCTGGGCAGAGGCTGAGTCGAGGGCAGCAGTGAGAGTGGCTGGGCTCAGGGACAGGGACACATCCCTCCAGGATCCCCGGGCTTCCAGCTGGCCCCTGTCCTCTCCAAAGCCAGGGCCTCCTGGGTACAGGCAGTGGGGACGTCTTGAGGACCACGTGGATGGAAAGGTGGGGTCTCTCAGATCAGAAGCAAGGAGAGCAGTGAATGGCAGGGTGCAGGACAAGAGGACGCAGGGCCAGAATGAGGGCAGGGGTGAGGGGCAGGGGGCACTAAGGAGTTCTTTGGTCATGGGGAGTGGCAAGGAGGTAGGAGCAAGAGATTGGAGAGCGGAGGGGAGGGGAGGGCAGGGCAGGGCAGTCTCGGGCCAGACCGAGGTAGTGCAACAGCTTTTGGGCCCGGTTCTGTGCAGGCCGCAGCTGGAACAGCTCTGGGTTCTCGTCGATGAACTGGGTGTCCACAGTGCCTGCCAGGAACTGCTGGTTGTTGAGCACATTCTGCAGGAAGGCGATGTTGGTCTGCAGGACAGAGGCGGGTGGGAGGGGGTCACCATGCAGCACAGACAGGGAAGGCAGAGGAGAAAAGGCTGAAAGAGAAAAGGCTGAAGATGCTGCCCTGGGCCAGCACAGCTTCTGGGCCTCCCTGCAGAGGGGCACTTCCCCGTCCCTCAGCCCTCTCCTCACTCCAGCAGAGCCCCCTAAGCTGTCACGGGCTGGGCCTGCTCCCTCCATACTTGTTTACACCAAAGCATGTGCTGAAGGCCACCCTTCCTGCCTCCCCGCAGCCTAGAACAGGGCTCAGCCTTTTTCTCCAGCAGCGTGGCCCACAGCAGTCACCCTTGCCCCTCGTCCACGCTTCTCGAAAGAGGGCCTTGACCGCAACAGACCACACTCTGGCACTCTAAGTCACTCCTCCCAGCTGAGTCCAGCGGGCATGCTCCCGCCTTGCTGCTCGTTCCCTGGGCTTCCAAGCCATCTTGCTCTCCTGTCCTCTTCCTCCCCAGCTCCTCACACACCACATGCTCCCCAGGAGGCCCCGTCCCGGGGCTGTGGCGCCAGTGACAGGCTCTGCCTCCAGGGCAAGACCCAGAGGTGCAACTGCCTCCCGGGCCTTTCCTTGTTCACCC
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CATCCAGCCCCCACCCTCACACCATGCTGGGCCTTCCCTACCTTAGAGCGAAAGGGTTCGGGGAACCCCCCATGGGGGACACCGATGTAGCCCTGCAGGAACTCCACCACGGAGCGGGGAAAGGACAGCTCTTCCGCCTGAGCTTCGGCCTCTGCCCGGCTCAATCCATTCTGCACCATAAACTGGGCCAGGTCCCCCACGATCTTGGAGGAGGGCGTCACCTGAGGAGAAGGCCCTGGAGGTTAGGGTGCCAGGCACCTCAAGGAGGCCAGTGGCAGGTGCATGCAGGGCTGGGTCAGGTAAGGAGCACCGGGCCGGGCTCACCTTGATGAGATCGCCCAGCATCTGGTTGGCCTCCACATAGGCCTTCTTGACCTCCTTGAACTTGGAGCCAAGCCCCATGCTGTGGGCCTGGAAGTGCAGGTTGGTGTACTGGCCCCCTGGGATCTCATTTTCATACACGTCCGAGTTGCCAGACTTCATGGTGGCCGTGCAGTCGAAGGCCGCGTACAGTCCCCGAGCCCCCTCCCAGTACTCACTGTAGTCAAACACGCGCTCCATGGGCACCTCTGCAGGGAGGCCAGAGTCAGAGGAGGCCTTAGAAATGTGTGACTCTTCCAGGACCCAGGGCTAGCTCAGGTCCCATGTCTGACTCAGGTGACAGAAGGCGGCAAGGCCAGAGCAGGGCATCTGGATCCTAGGCAGGTCCAACACTACTGGGACTGGTGGTGGCTGCGGCTTTGAGAGGGGTGTGGCCACGGGCTGCTGTTCTTCCTACCTGTGTCCAGGGGAGTCCCTCTGGTACAGGCCACCAGGGCCCCCATGCTGGGCTGTGAAGTCATCCCAGACATGGAATCAGCTGCCACATCCACCACATCAGCTCCAGCCTGGGCACAGGCCAGCATGGCTGCCACGCCTGCCCCTGACGTGTCGTGGGTGTGGATGTGCAGTGGGAGGTCGGGGAAGCGGTCCCGGAGGGAGCTGACCAGCATGGTGCAGGCCGTGGGCTTCAGCAGCCCGGCCATGTCCTGGGGGAAGTGGGAGAGAGAGAGAGAGAGATGGTAGAGAGGGCAGGATGTGTGCCTGTGGGTGGCGGGGACATGGCCGGGGCAGAGAGGGAGGGACGGACAAGTGGCCCAGGCACCTTGATGCACAGGATGTGGGTGCCAGCTCGCACCAGCTCTTCGGCCAAGCCCATGTAGTACTGCAGTGAGTACTTGGTGCGGCTGGGGTCGGCCACGTCGCCCGTGTATGAGATGGCAGCCTCCACCACGCCTCCGGCACTTCCTGCCGCCTCCATGCCCAGCAGCATGTTGGGCAAGTAGTTGAGGGAGTCAAACACACGGAAGACATCCATGCCATTCTCTTTGGCCACTTCACAGAACCTGCAAGGGTGAGAGAGCCCAGGGCTGAGCCCCACCCCACCTCCCTCTGAACAGTCTTCCCTGGCTCCTTCCTGACCCACTCTATGGCCCCTGGGGAATGAGATCTGAGGGTCTCGCCTGGCAGGGGGTGTGGCATCCACAGGCGGGGGGTGGCCACACAAGTGTGGACCAGGCCCTGGAGGATCAGCTAGGCCAGTGGCAGGCTGTGGAAGAGGGTACTGAGCAAGGAGTCTTGAGGCCTGGGTTCCAATCCCAGCCCTGCACCGAGTGACCCAGGCAAGTCTCAGACCTTCCACTGCCCCAGGAGTGAGGGAGTGATTTAGAAGCCTGTCTGGTTCTGCAACTCCAATTTTACACTTCTCGATATTTCCAAACAGCAGCCCCTGCTGCGTGTGGCCACAGAGAGACTTGGTGTCAGGCTGACCGTGGAGAACAGAGGCCATCACGACATGGCTCGGTACCCTCTGGGCCACACCAGGTAGCGTCTGCCCACCCCACCCCAGGCTCACTTGAAGACCACGTTGTCTGGGTAGTTGGTGTAGCCCACAGCATTGGCCCCCCGCAGCAGCATCTGGAAAGGGATGTTGGGGATGAGCTCCCGGAGCTCCTGCAGCCGCCGCCAGGGGCACTCATACAGGAAGCGCATGGCGACGTCAAACGTGGTTCCTGCACAGGAACCGAGAGGCCCAGATCAGCTCTGCATGCCTGGGGAACTCCACCAGGCCTTGGAGCTAGCTCTGCAGCACAAGCCTCTGGCCCCAATACCAGGTCCTGCTCATCTTCGCCATACCTGTGTTCCCTGCTCCAACCCCCACAGATTTTTCCCTTGTCTGATCTCTAAGGGGGAGACCAGGCTCATTTGTGTCCCTTCTATGCCCCCTTTATAATCCCATCTTCTCCTCTACCTCTCTGTGCTATAATTAACAGGCAGGTGTCTCCTCCTGACCCTGGACCTCCCAGGATGCACCTGGTCTCAGCTCTGCAACCTCGTGCCGGCACCAGGCCTGGCCGGAGAGGGCGCTGTGCCTTCTTCGGTCCTTCCTCTTTGGTGTTCTTCGTGTCAGCGTCTCTAGCTTGTCCCCAGTGGCCTAAGCCTGTGGGACTGGCCACAGAGCGGGCGCCCATTCCTACCAGGCGCTGCGCAGCATGCCAGCCTACCTCCCCAGTTCTCCATGCTGAAGAGCTTGCTGAAGTTGTGGGCAACATAGGGGGCGATCTTTTTGAGATCGTGGGTGCGCACACGAGTGGCCAGCAGTGACTGGTGGGCGTCCCTGAAGGTCGTGTCCATCAGCAGCAGCCCCGGGTGGTTCCGCACAGCTCGAGCAAAGCCCTCAGGCCCCTCTCGCAGCAGGATGTCTCTGAAACCAGCCGGGGGCGGGCCTAGGGTAGACAGGGGCATTGGTGCCCATCCTGCAGGTGGCAACCTCCTGTCTCCCCCATGAGTTGACAGAATGGATCTCACCTACCTATGGGCACTGCAGGGACAACGGGGTCCGTGGGGCTGGGGCTGGCCTTGACGGGAATCGGGGTGGTTGGACCGTTTACCATGACATGGCCTGGGGAGAAAGCGGGCAGTGGGTCAGGGTGGGCTGGGCAGAGGCTGAGTCGAGGGCAGCAGTGAGAGTGGCTGGGCTCAGGGACAGGGACACATCCCTCCAGGATCCCCGGGCTTCCAGCTGGCCCCTGTCCTCTCCAAAGCCAGGGCCTCCTGGGTACAGGCAGTGGGGACGTCTTGAGGACCACGTGGATGGAAAGGTGGGGTCTCTCAGATCAGAAGCAAGGAGAGCAGTGAATGGCAGGGTGCAGGACAAGAGGACGCAGGGCCAGAATGAGGGCAGGGGTGAGGGGCAGGGGGCACTAAGGAGTTCTTTGGTCATGGGGAGTGGCAAGGAGGTAGGAGCAAGAGATTGGAGAGCGGAGGGGAGGGGAGGGCAGGGCAGGGCAGTCTCGGGCCAGACCGAGGTAGTGCAACAGCTTTTGGGCCCGGTTCTGTGCAGGCCGCAGCTGGAACAGCTCTGGGTTCTCGTCGATGAACTGGGTGTCCACAGTGCCTGCCAGGAACTGCTGGTTGTTGAGCACATTCTGCAGGAAGGCGATGTTGGTCTGCAGGACAGAGGCGGGTGGGAGGGGGTCACCATGCAGCACAGACAGGGAAGGCAGAGGAGAAAAGGCTGAAAGAGAAAAGGCTGAAGATGCTGCCCTGGGCCAGCACAGCTTCTGGGCCTCCCTGCAGAGGGGCACTTCCCCGTCCCTCAGCCCTCTCCTCACTCCAGCAGAGCCCCCTAAGCTGTCACGGGCTGGGCCTGCTCCCTCCATACTTGTTTACACCAAAGCATGTGCTGAAGGCCACCCTTCCTGCCTCCCCGCAGCCTAGAACAGGGCTCAGCCTTTTTCTCCAGCAGCGTGGCCCACAGCAGTCACCCTTGCCCCTCGTCCACGCTTCTCGAAAGAGGGCCTTGACCGCAACAGACCACACTCTGGCACTCTAAGTCACTCCTCCCAGCTGAGTCCAGCGGGCATGCTCCCGCCTTGCTGCTCGTTCCCTGGGCTTCCAAGCCATCTTGCTCTCCTGTCCTCTTCCTCCCCAGCTCCTCACACACCACATGCTCCCCAGGAGGCCCCGTCCCGGGGCTGTGGCGCCAGTGACAGGCTCTGCCTCCAGGGCAAGACCCAGAGGTGCAACTGCCTCCCGGGCCTTTCCTTGTTCACCC
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Task1_train_16132
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A genomic change on Chromosome 11 affects PC (pyruvate carboxylase). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Pyruvate carboxylase deficiency
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CAGGGAGGCCAGAGTCAGAGGAGGCCTTAGAAATGTGTGACTCTTCCAGGACCCAGGGCTAGCTCAGGTCCCATGTCTGACTCAGGTGACAGAAGGCGGCAAGGCCAGAGCAGGGCATCTGGATCCTAGGCAGGTCCAACACTACTGGGACTGGTGGTGGCTGCGGCTTTGAGAGGGGTGTGGCCACGGGCTGCTGTTCTTCCTACCTGTGTCCAGGGGAGTCCCTCTGGTACAGGCCACCAGGGCCCCCATGCTGGGCTGTGAAGTCATCCCAGACATGGAATCAGCTGCCACATCCACCACATCAGCTCCAGCCTGGGCACAGGCCAGCATGGCTGCCACGCCTGCCCCTGACGTGTCGTGGGTGTGGATGTGCAGTGGGAGGTCGGGGAAGCGGTCCCGGAGGGAGCTGACCAGCATGGTGCAGGCCGTGGGCTTCAGCAGCCCGGCCATGTCCTGGGGGAAGTGGGAGAGAGAGAGAGAGAGATGGTAGAGAGGGCAGGATGTGTGCCTGTGGGTGGCGGGGACATGGCCGGGGCAGAGAGGGAGGGACGGACAAGTGGCCCAGGCACCTTGATGCACAGGATGTGGGTGCCAGCTCGCACCAGCTCTTCGGCCAAGCCCATGTAGTACTGCAGTGAGTACTTGGTGCGGCTGGGGTCGGCCACGTCGCCCGTGTATGAGATGGCAGCCTCCACCACGCCTCCGGCACTTCCTGCCGCCTCCATGCCCAGCAGCATGTTGGGCAAGTAGTTGAGGGAGTCAAACACACGGAAGACATCCATGCCATTCTCTTTGGCCACTTCACAGAACCTGCAAGGGTGAGAGAGCCCAGGGCTGAGCCCCACCCCACCTCCCTCTGAACAGTCTTCCCTGGCTCCTTCCTGACCCACTCTATGGCCCCTGGGGAATGAGATCTGAGGGTCTCGCCTGGCAGGGGGTGTGGCATCCACAGGCGGGGGGTGGCCACACAAGTGTGGACCAGGCCCTGGAGGATCAGCTAGGCCAGTGGCAGGCTGTGGAAGAGGGTACTGAGCAAGGAGTCTTGAGGCCTGGGTTCCAATCCCAGCCCTGCACCGAGTGACCCAGGCAAGTCTCAGACCTTCCACTGCCCCAGGAGTGAGGGAGTGATTTAGAAGCCTGTCTGGTTCTGCAACTCCAATTTTACACTTCTCGATATTTCCAAACAGCAGCCCCTGCTGCGTGTGGCCACAGAGAGACTTGGTGTCAGGCTGACCGTGGAGAACAGAGGCCATCACGACATGGCTCGGTACCCTCTGGGCCACACCAGGTAGCGTCTGCCCACCCCACCCCAGGCTCACTTGAAGACCACGTTGTCTGGGTAGTTGGTGTAGCCCACAGCATTGGCCCCCCGCAGCAGCATCTGGAAAGGGATGTTGGGGATGAGCTCCCGGAGCTCCTGCAGCCGCCGCCAGGGGCACTCATACAGGAAGCGCATGGCGACGTCAAACGTGGCTCCTGCACAGGAACCGAGAGGCCCAGATCAGCTCTGCATGCCTGGGGAACTCCACCAGGCCTTGGAGCTAGCTCTGCAGCACAAGCCTCTGGCCCCAATACCAGGTCCTGCTCATCTTCGCCATACCTGTGTTCCCTGCTCCAACCCCCACAGATTTTTCCCTTGTCTGATCTCTAAGGGGGAGACCAGGCTCATTTGTGTCCCTTCTATGCCCCCTTTATAATCCCATCTTCTCCTCTACCTCTCTGTGCTATAATTAACAGGCAGGTGTCTCCTCCTGACCCTGGACCTCCCAGGATGCACCTGGTCTCAGCTCTGCAACCTCGTGCCGGCACCAGGCCTGGCCGGAGAGGGCGCTGTGCCTTCTTCGGTCCTTCCTCTTTGGTGTTCTTCGTGTCAGCGTCTCTAGCTTGTCCCCAGTGGCCTAAGCCTGTGGGACTGGCCACAGAGCGGGCGCCCATTCCTACCAGGCGCTGCGCAGCATGCCAGCCTACCTCCCCAGTTCTCCATGCTGAAGAGCTTGCTGAAGTTGTGGGCAACATAGGGGGCGATCTTTTTGAGATCGTGGGTGCGCACACGAGTGGCCAGCAGTGACTGGTGGGCGTCCCTGAAGGTCGTGTCCATCAGCAGCAGCCCCGGGTGGTTCCGCACAGCTCGAGCAAAGCCCTCAGGCCCCTCTCGCAGCAGGATGTCTCTGAAACCAGCCGGGGGCGGGCCTAGGGTAGACAGGGGCATTGGTGCCCATCCTGCAGGTGGCAACCTCCTGTCTCCCCCATGAGTTGACAGAATGGATCTCACCTACCTATGGGCACTGCAGGGACAACGGGGTCCGTGGGGCTGGGGCTGGCCTTGACGGGAATCGGGGTGGTTGGACCGTTTACCATGACATGGCCTGGGGAGAAAGCGGGCAGTGGGTCAGGGTGGGCTGGGCAGAGGCTGAGTCGAGGGCAGCAGTGAGAGTGGCTGGGCTCAGGGACAGGGACACATCCCTCCAGGATCCCCGGGCTTCCAGCTGGCCCCTGTCCTCTCCAAAGCCAGGGCCTCCTGGGTACAGGCAGTGGGGACGTCTTGAGGACCACGTGGATGGAAAGGTGGGGTCTCTCAGATCAGAAGCAAGGAGAGCAGTGAATGGCAGGGTGCAGGACAAGAGGACGCAGGGCCAGAATGAGGGCAGGGGTGAGGGGCAGGGGGCACTAAGGAGTTCTTTGGTCATGGGGAGTGGCAAGGAGGTAGGAGCAAGAGATTGGAGAGCGGAGGGGAGGGGAGGGCAGGGCAGGGCAGTCTCGGGCCAGACCGAGGTAGTGCAACAGCTTTTGGGCCCGGTTCTGTGCAGGCCGCAGCTGGAACAGCTCTGGGTTCTCGTCGATGAACTGGGTGTCCACAGTGCCTGCCAGGAACTGCTGGTTGTTGAGCACATTCTGCAGGAAGGCGATGTTGGTCTGCAGGACAGAGGCGGGTGGGAGGGGGTCACCATGCAGCACAGACAGGGAAGGCAGAGGAGAAAAGGCTGAAAGAGAAAAGGCTGAAGATGCTGCCCTGGGCCAGCACAGCTTCTGGGCCTCCCTGCAGAGGGGCACTTCCCCGTCCCTCAGCCCTCTCCTCACTCCAGCAGAGCCCCCTAAGCTGTCACGGGCTGGGCCTGCTCCCTCCATACTTGTTTACACCAAAGCATGTGCTGAAGGCCACCCTTCCTGCCTCCCCGCAGCCTAGAACAGGGCTCAGCCTTTTTCTCCAGCAGCGTGGCCCACAGCAGTCACCCTTGCCCCTCGTCCACGCTTCTCGAAAGAGGGCCTTGACCGCAACAGACCACACTCTGGCACTCTAAGTCACTCCTCCCAGCTGAGTCCAGCGGGCATGCTCCCGCCTTGCTGCTCGTTCCCTGGGCTTCCAAGCCATCTTGCTCTCCTGTCCTCTTCCTCCCCAGCTCCTCACACACCACATGCTCCCCAGGAGGCCCCGTCCCGGGGCTGTGGCGCCAGTGACAGGCTCTGCCTCCAGGGCAAGACCCAGAGGTGCAACTGCCTCCCGGGCCTTTCCTTGTTCACCCCTCGCATAAGTTCAGCAAGTCCACGGCCAGCTTCCTGCCTATGCACCCAGTCCTCCTGTGCCCAGTGGGTGCCCCACTGTCCCCCCAGTTACCAAAACCTGCATCCCATCACCCTCATCACCCACTCCTCCCATGCCACTGGTCAAGCCAGAGGATTCGACCACGGCCATTTTGGGACCTTGTGACCTCTTCTCCATCTCCAGGCCACACCCTCCACCGCCTTCCTCATTGTGGCCACCTCCAGCCACATCAAACTTGCCTTGCGCTCCACACCTTTGCACCTGCCTGGGAAGCTCTCCCTGAACTTCTCAAGGGCCTTCGCCCTGTCCTCACACCCTCGGCAGAGCTGACACTCACCTTTCCAGCAGTCCCCTGAGGAACCCGCTGTGGGCAAGCACACCCATCGGCTTCATCCTCTGCTTGTCTGCCTGGGAACCCTTGGGGGCAGGGTGCTGCCTGAGGCATGTGTCAGTGCACTTTGTGCACAGGGGCCCTCGGTTCCACTCATTAAATGCCTGGGTGACAACATGAGGCTGGGCCAGGGTGAGTATGACTTAAACGGGGACATGCGA
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CAGGGAGGCCAGAGTCAGAGGAGGCCTTAGAAATGTGTGACTCTTCCAGGACCCAGGGCTAGCTCAGGTCCCATGTCTGACTCAGGTGACAGAAGGCGGCAAGGCCAGAGCAGGGCATCTGGATCCTAGGCAGGTCCAACACTACTGGGACTGGTGGTGGCTGCGGCTTTGAGAGGGGTGTGGCCACGGGCTGCTGTTCTTCCTACCTGTGTCCAGGGGAGTCCCTCTGGTACAGGCCACCAGGGCCCCCATGCTGGGCTGTGAAGTCATCCCAGACATGGAATCAGCTGCCACATCCACCACATCAGCTCCAGCCTGGGCACAGGCCAGCATGGCTGCCACGCCTGCCCCTGACGTGTCGTGGGTGTGGATGTGCAGTGGGAGGTCGGGGAAGCGGTCCCGGAGGGAGCTGACCAGCATGGTGCAGGCCGTGGGCTTCAGCAGCCCGGCCATGTCCTGGGGGAAGTGGGAGAGAGAGAGAGAGAGATGGTAGAGAGGGCAGGATGTGTGCCTGTGGGTGGCGGGGACATGGCCGGGGCAGAGAGGGAGGGACGGACAAGTGGCCCAGGCACCTTGATGCACAGGATGTGGGTGCCAGCTCGCACCAGCTCTTCGGCCAAGCCCATGTAGTACTGCAGTGAGTACTTGGTGCGGCTGGGGTCGGCCACGTCGCCCGTGTATGAGATGGCAGCCTCCACCACGCCTCCGGCACTTCCTGCCGCCTCCATGCCCAGCAGCATGTTGGGCAAGTAGTTGAGGGAGTCAAACACACGGAAGACATCCATGCCATTCTCTTTGGCCACTTCACAGAACCTGCAAGGGTGAGAGAGCCCAGGGCTGAGCCCCACCCCACCTCCCTCTGAACAGTCTTCCCTGGCTCCTTCCTGACCCACTCTATGGCCCCTGGGGAATGAGATCTGAGGGTCTCGCCTGGCAGGGGGTGTGGCATCCACAGGCGGGGGGTGGCCACACAAGTGTGGACCAGGCCCTGGAGGATCAGCTAGGCCAGTGGCAGGCTGTGGAAGAGGGTACTGAGCAAGGAGTCTTGAGGCCTGGGTTCCAATCCCAGCCCTGCACCGAGTGACCCAGGCAAGTCTCAGACCTTCCACTGCCCCAGGAGTGAGGGAGTGATTTAGAAGCCTGTCTGGTTCTGCAACTCCAATTTTACACTTCTCGATATTTCCAAACAGCAGCCCCTGCTGCGTGTGGCCACAGAGAGACTTGGTGTCAGGCTGACCGTGGAGAACAGAGGCCATCACGACATGGCTCGGTACCCTCTGGGCCACACCAGGTAGCGTCTGCCCACCCCACCCCAGGCTCACTTGAAGACCACGTTGTCTGGGTAGTTGGTGTAGCCCACAGCATTGGCCCCCCGCAGCAGCATCTGGAAAGGGATGTTGGGGATGAGCTCCCGGAGCTCCTGCAGCCGCCGCCAGGGGCACTCATACAGGAAGCGCATGGCGACGTCAAACGTGGCTCCTGCACAGGAACCGAGAGGCCCAGATCAGCTCTGCATGCCTGGGGAACTCCACCAGGCCTTGGAGCTAGCTCTGCAGCACAAGCCTCTGGCCCCAATACCAGGTCCTGCTCATCTTCGCCATACCTGTGTTCCCTGCTCCAACCCCCACAGATTTTTCCCTTGTCTGATCTCTAAGGGGGAGACCAGGCTCATTTGTGTCCCTTCTATGCCCCCTTTATAATCCCATCTTCTCCTCTACCTCTCTGTGCTATAATTAACAGGCAGGTGTCTCCTCCTGACCCTGGACCTCCCAGGATGCACCTGGTCTCAGCTCTGCAACCTCGTGCCGGCACCAGGCCTGGCCGGAGAGGGCGCTGTGCCTTCTTCGGTCCTTCCTCTTTGGTGTTCTTCGTGTCAGCGTCTCTAGCTTGTCCCCAGTGGCCTAAGCCTGTGGGACTGGCCACAGAGCGGGCGCCCATTCCTACCAGGCGCTGCGCAGCATGCCAGCCTACCTCCCCAGTTCTCCATGCTGAAGAGCTTGCTGAAGTTGTGGGCAACATAGGGGGCGATCTTTTTGAGATCGTGGGTGAGCACACGAGTGGCCAGCAGTGACTGGTGGGCGTCCCTGAAGGTCGTGTCCATCAGCAGCAGCCCCGGGTGGTTCCGCACAGCTCGAGCAAAGCCCTCAGGCCCCTCTCGCAGCAGGATGTCTCTGAAACCAGCCGGGGGCGGGCCTAGGGTAGACAGGGGCATTGGTGCCCATCCTGCAGGTGGCAACCTCCTGTCTCCCCCATGAGTTGACAGAATGGATCTCACCTACCTATGGGCACTGCAGGGACAACGGGGTCCGTGGGGCTGGGGCTGGCCTTGACGGGAATCGGGGTGGTTGGACCGTTTACCATGACATGGCCTGGGGAGAAAGCGGGCAGTGGGTCAGGGTGGGCTGGGCAGAGGCTGAGTCGAGGGCAGCAGTGAGAGTGGCTGGGCTCAGGGACAGGGACACATCCCTCCAGGATCCCCGGGCTTCCAGCTGGCCCCTGTCCTCTCCAAAGCCAGGGCCTCCTGGGTACAGGCAGTGGGGACGTCTTGAGGACCACGTGGATGGAAAGGTGGGGTCTCTCAGATCAGAAGCAAGGAGAGCAGTGAATGGCAGGGTGCAGGACAAGAGGACGCAGGGCCAGAATGAGGGCAGGGGTGAGGGGCAGGGGGCACTAAGGAGTTCTTTGGTCATGGGGAGTGGCAAGGAGGTAGGAGCAAGAGATTGGAGAGCGGAGGGGAGGGGAGGGCAGGGCAGGGCAGTCTCGGGCCAGACCGAGGTAGTGCAACAGCTTTTGGGCCCGGTTCTGTGCAGGCCGCAGCTGGAACAGCTCTGGGTTCTCGTCGATGAACTGGGTGTCCACAGTGCCTGCCAGGAACTGCTGGTTGTTGAGCACATTCTGCAGGAAGGCGATGTTGGTCTGCAGGACAGAGGCGGGTGGGAGGGGGTCACCATGCAGCACAGACAGGGAAGGCAGAGGAGAAAAGGCTGAAAGAGAAAAGGCTGAAGATGCTGCCCTGGGCCAGCACAGCTTCTGGGCCTCCCTGCAGAGGGGCACTTCCCCGTCCCTCAGCCCTCTCCTCACTCCAGCAGAGCCCCCTAAGCTGTCACGGGCTGGGCCTGCTCCCTCCATACTTGTTTACACCAAAGCATGTGCTGAAGGCCACCCTTCCTGCCTCCCCGCAGCCTAGAACAGGGCTCAGCCTTTTTCTCCAGCAGCGTGGCCCACAGCAGTCACCCTTGCCCCTCGTCCACGCTTCTCGAAAGAGGGCCTTGACCGCAACAGACCACACTCTGGCACTCTAAGTCACTCCTCCCAGCTGAGTCCAGCGGGCATGCTCCCGCCTTGCTGCTCGTTCCCTGGGCTTCCAAGCCATCTTGCTCTCCTGTCCTCTTCCTCCCCAGCTCCTCACACACCACATGCTCCCCAGGAGGCCCCGTCCCGGGGCTGTGGCGCCAGTGACAGGCTCTGCCTCCAGGGCAAGACCCAGAGGTGCAACTGCCTCCCGGGCCTTTCCTTGTTCACCCCTCGCATAAGTTCAGCAAGTCCACGGCCAGCTTCCTGCCTATGCACCCAGTCCTCCTGTGCCCAGTGGGTGCCCCACTGTCCCCCCAGTTACCAAAACCTGCATCCCATCACCCTCATCACCCACTCCTCCCATGCCACTGGTCAAGCCAGAGGATTCGACCACGGCCATTTTGGGACCTTGTGACCTCTTCTCCATCTCCAGGCCACACCCTCCACCGCCTTCCTCATTGTGGCCACCTCCAGCCACATCAAACTTGCCTTGCGCTCCACACCTTTGCACCTGCCTGGGAAGCTCTCCCTGAACTTCTCAAGGGCCTTCGCCCTGTCCTCACACCCTCGGCAGAGCTGACACTCACCTTTCCAGCAGTCCCCTGAGGAACCCGCTGTGGGCAAGCACACCCATCGGCTTCATCCTCTGCTTGTCTGCCTGGGAACCCTTGGGGGCAGGGTGCTGCCTGAGGCATGTGTCAGTGCACTTTGTGCACAGGGGCCCTCGGTTCCACTCATTAAATGCCTGGGTGACAACATGAGGCTGGGCCAGGGTGAGTATGACTTAAACGGGGACATGCGA
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Task1_train_16133
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The following genetic variant occurs in PC (pyruvate carboxylase) on Chromosome 11. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Pyruvate carboxylase deficiency
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TCTTGGTGCACATTTGGGGAGGACTTGGCACCCCCAGACACCAGAGACACTTATCCTGCTGCTGGCCCCGTGGTCACGGTCTCTAGTGCCCCTTTCTCCACCTGGGGGGCGGGGGACGGTCTAAAGAGGAAGATCTTTCCGGGCCCTCCAGGGTGCAGAAGCCCACCTCTAGCTGCACCCCTAGCAGGCGCAAGGTTCTAGGGCCCAGGGACCAGCTTGGCACGTGGGGAGCTGCTGAGGGTGAGGAGGGAGCAGAGGAACCGGGCACAACCCCAGGAGCCAGCCAGGACCACAGAGCAACGGGCAGGGGCAGGCGAGGGGGATGGCCTGGGTCACCCCTGTGCATGGCCACGCATCCCCTCAACACCGAAGCAGCCGCAGGACATCCCCGCCAGGACACCAGGAGCCGCAGCAAGGTGCAGGGGGAGCGCGTGATGTCGACAGCTGATGTCGCGACACACCTCTGCCTATGTGCACGACAGGGACCCCCAACAGGGAGGCTGAGAGGCTCCCCACGGAAGAGTAACACCCCCTGGCCTCTAGGAAGTGCGCTGTTCCCTCTTAAGGTGGGAGACAGGCTGGCCACACACACAGGCATAGGCCCAGAAGCCTCCAGGGGCTCTTGCGACCAAGCAGCCATGTGGACATGTGAGAAGTGATTGCAGGACCCTGAGGGGACAGCACGGCCCACATGCCCCCCCATCCCCCAAGCAACTGCGCCTCGATGACAGGCAGGGCTGGAAGAAGCTGCAAGGAGGACACGAGGCCAAGGCAGAGGGGCCGGTGCCAGTGCCCAGCACAGCCCGCCCTGTGGGGACCCCCAAGAAGAAGATGGGGTGGTAACTCCCACAGGGGCTGAGGGCCAAAGCCCCTGTCCTCCGGCTCTTCTTGCCATTCTGAGGGTGGCTCCCACGGGACACGTGCTGGCTTCAAAGGCCGAGGCGGCATTTCCTGGCTGTGGATTCCTCTCTAGCTACAGACGCCAGTAACAGAGCCCAGCAAAGGGCTCTTTAGATCCTAAATACCCATTTAGAGTCCTCATGCCAGGCAGGGCACCCACCAAGGCCACCCAAAGACAAGCCGAGCTGCCAGCCCACCAAGGGCAGGTTGCCTCCCAAGCCTCCTGCTCATGTCTCTGCTGCGCCCCCACCCTCGGCTGCTCCTGAAGCACCTGACACTGTGTGCACCAGGCCAGGTGAGGAGAGCAGGGGGCTGGCGGGGGCCTGACACTGTGCAAAGTGACCGCATCTACATGACTTGGGCTCTTGCCTGGTGGGGGGGGATCCACATTTTCCAGAAATTAAGAATTATCTGGGAGGCCAGGCACGGTGGCTCACACCTGTAATCTCAGCATTTTGGGAGGTCAAGGCGGGTGGAACACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAATGTGATAAAACCCCGTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGGGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGCAAGATTCCACTTCAAAAATAAAAAAGAATTATCTGGAGAACTTGTTCAAAACACAGGTTCTGGCGCCTCTACCCAAACCTGTGGGATCAGGATTTCCAGAAGGGAAGCCTGATGATATTTAACACACATTCCAGGTGATTCTCACCCCAGAGGGGCGGGACACAGCGTGGGTCTCCCCGGAACAAGACTAGACAGGAGGCATGTGAGGACGAGCTCCGGCCAGGCCACTGCCAGGGACTCTGGCAGCGGGTTGCCCAGGCGCCTGCAGACTCTGAAAACAGCTGGAGTCTGGCGTGCAGCTGCAGCCAAGGAGAGCCACTGACCTCGACCCATCAGTCAGGGGCAAGGCTGAGGTGAAGCCATGTGCAAGGCCCTTGGTGGGGAAGTGAACGGTCAGGGGGCCCTCCAAGGGCCGGGAGCAAAGGCAGGCGGGGGCTGCAGCCTCTCACCTTCACACCTCGGACGCGGAACTCCGCAAGGGCCCTGCTCATCTTGGTGGCGGCCGTGGGGTGGTCTTTGCCGTGGGCAATGACTTTGACCAGCAGGGAGTCGTAGTGGGGCGAGATGACGGCTCCTTGGAAGGCGGAAGCATTATCCAGGCGGATGCCCATGCCCTCTCCGCTCCGGAACACCTGTGGGAAGGGTGAGGCGTGAGGACCTGCGCCAGAAACTGCGGTCAAAAGTGCCCCACCCACCCCGAGGCTGGCCAGGTGTGCACCCAGCAGCTGCTGAGAGCAGAGCGTGGGGTGTCTGCAGGTGAATCCCAGCTCTGGCTGGTCAGGTTTTGCTGTTTCTGCCACCAAACCCAGGAGTGCGTCCCTTCTCTACGTGCCACGCAGTCACTGCTACTGGCTCCCTGTGAGGAGCTGGGAGGGGGCAGAGGAGGAAGGGAATGCCTGCCGCAGAGCGGGAGAGGGGCCCGGGCAGGCAGGGGCCAGCCCTGCCTCTATTCCCACGGACCTGCTGCACCTGCCTGAGCAACCCTCTAGCCTTTCAGACTCATCCACGTTCGTTCCACAGCACGGATTGAGGTCTGCTGACCCGGCCGCTAAAGGGCCTCGCCGTGGGCTCCCAGACAGCGAGGGGACGGCAGGCCGGCGACAGGGCCTCCAAAGGACCATGTGCGAGGCAAGAGGCAAGGCTGACCGGGGGTTTGTTTTTGTTTTTAACAGGGTGGTGGGGAAGGCCTCAACATCCACCCATGCTCCCTTCCTTTCCTTTCCTTTCCTTCCAGAAGGGAGGATGGGAGGGAGAGGAGGCAACGAGGAGGAAGTGGGAGAGGAAATGAAGGGAAAGTGCCAGAGGCAGGGTCCACACCCATCAGGGAAGCAAACCAAGGGCGAGGAGAGGGCAGCGGGGCAGCGGGACAGGGCCAGGGCCAGACGGCAATGGGAGGGGCAGCGGAGAGGAGGAGACAGAGGCGCCGACACTCACACACACAGGTGGCTCGTGCCGCCTGCACCTGTTCGTGCCGCCCGAGTGAGCCCCGCAGAGAAGGGCTCCCCGGAGGTGGGGGACCCGTCAGGCCCAGGTAAGGAAGAAGGGGAGTGGGGGGACCGCCCAGAGGGGCTCGGGACACCCACTGCCCATTTCCGCTTCTCGGGGGCAGAGGCCTGTGTTCAATAAAAAGGAACTTCATAAAATATTTAAGGGTGAACACTCAGCTGAGAGCAGAAACTGTCGGCTAAAAATACTCTGTGATGAGGCAGGCTCTGAAGAGCCAGGGCTTGGAAGTGGGGATGGAGGGAGGCAGAGAAGTCAGGGGCCGCCGGGCAGCACTCAGCCTGGGGCTGCCGCCACCTACAGACTCTTCCAGAAACAGAAGGCAGGTGGCCAGCTCCCTGCTGAAGCCACAGGCTCTGCTGCTTCCAGAATCCAGAGAGCTCTGGTCCCTACCCCCAGCCTCCCCAGCCTCCCTTGTCTCAGAAGCCCAGAGCCTGGCCCAAACTCATGTTTGCTCCCCTCACCGCCCCACACAAGCCCGGGGGCCTCTGCCTTGGACTCTGGAGCAAAGCTGGAGCTCCATCAATGTCTTGCCTCCTTTGGGGCTCAGGCCCCTGGATAGGGAGCAAGTCCCTAGCACAGCTGGCACGGTGCTGGCAGCACGTGCAGGGCTGGGAACAGGCACCGAGCAGGCCGCAGGGCTCCTGCCCACAGCTGGGACCAGAGGCGGGGGAGATGGGTTTCGGAGGCCAATGACTGGGTCCCGGTGCTGAGAGGAAGAAAGGTACAGGGAGCCCTCCTGGAGAAGGCGCGAGTCTTGCTGTGCTGAGGAGCCTGCCGTGGACCGCCTCAGCGCCCCCTACACCACTCTCTCCCCCACCAAGGCTGCCATCTCGCGGCCCCGAATCTACCTCTCGGTCTCCCTCCTGTGCCGCCATCTCCGACTCCCTCCCCCATCCTTGATGGGCCCCTGAGCTTGGCTCAGACTCCATTGGGACCTCTGGGCCCAGTCCTTTGCCACCCCCACCCCCAGGTCCTGCCATGTCAGCCCATCCCTCAGATGGGAGGTGG
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TCTTGGTGCACATTTGGGGAGGACTTGGCACCCCCAGACACCAGAGACACTTATCCTGCTGCTGGCCCCGTGGTCACGGTCTCTAGTGCCCCTTTCTCCACCTGGGGGGCGGGGGACGGTCTAAAGAGGAAGATCTTTCCGGGCCCTCCAGGGTGCAGAAGCCCACCTCTAGCTGCACCCCTAGCAGGCGCAAGGTTCTAGGGCCCAGGGACCAGCTTGGCACGTGGGGAGCTGCTGAGGGTGAGGAGGGAGCAGAGGAACCGGGCACAACCCCAGGAGCCAGCCAGGACCACAGAGCAACGGGCAGGGGCAGGCGAGGGGGATGGCCTGGGTCACCCCTGTGCATGGCCACGCATCCCCTCAACACCGAAGCAGCCGCAGGACATCCCCGCCAGGACACCAGGAGCCGCAGCAAGGTGCAGGGGGAGCGCGTGATGTCGACAGCTGATGTCGCGACACACCTCTGCCTATGTGCACGACAGGGACCCCCAACAGGGAGGCTGAGAGGCTCCCCACGGAAGAGTAACACCCCCTGGCCTCTAGGAAGTGCGCTGTTCCCTCTTAAGGTGGGAGACAGGCTGGCCACACACACAGGCATAGGCCCAGAAGCCTCCAGGGGCTCTTGCGACCAAGCAGCCATGTGGACATGTGAGAAGTGATTGCAGGACCCTGAGGGGACAGCACGGCCCACATGCCCCCCCATCCCCCAAGCAACTGCGCCTCGATGACAGGCAGGGCTGGAAGAAGCTGCAAGGAGGACACGAGGCCAAGGCAGAGGGGCCGGTGCCAGTGCCCAGCACAGCCCGCCCTGTGGGGACCCCCAAGAAGAAGATGGGGTGGTAACTCCCACAGGGGCTGAGGGCCAAAGCCCCTGTCCTCCGGCTCTTCTTGCCATTCTGAGGGTGGCTCCCACGGGACACGTGCTGGCTTCAAAGGCCGAGGCGGCATTTCCTGGCTGTGGATTCCTCTCTAGCTACAGACGCCAGTAACAGAGCCCAGCAAAGGGCTCTTTAGATCCTAAATACCCATTTAGAGTCCTCATGCCAGGCAGGGCACCCACCAAGGCCACCCAAAGACAAGCCGAGCTGCCAGCCCACCAAGGGCAGGTTGCCTCCCAAGCCTCCTGCTCATGTCTCTGCTGCGCCCCCACCCTCGGCTGCTCCTGAAGCACCTGACACTGTGTGCACCAGGCCAGGTGAGGAGAGCAGGGGGCTGGCGGGGGCCTGACACTGTGCAAAGTGACCGCATCTACATGACTTGGGCTCTTGCCTGGTGGGGGGGGATCCACATTTTCCAGAAATTAAGAATTATCTGGGAGGCCAGGCACGGTGGCTCACACCTGTAATCTCAGCATTTTGGGAGGTCAAGGCGGGTGGAACACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAATGTGATAAAACCCCGTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGGGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGCAAGATTCCACTTCAAAAATAAAAAAGAATTATCTGGAGAACTTGTTCAAAACACAGGTTCTGGCGCCTCTACCCAAACCTGTGGGATCAGGATTTCCAGAAGGGAAGCCTGATGATATTTAACACACATTCCAGGTGATTCTCACCCCAGAGGGGCGGGACACAGCGTGGGTCTCCCCGGAACAAGACTAGACAGGAGGCATGTGAGGACGAGCTCCGGCCAGGCCACTGCCAGGGACTCTGGCAGCGGGTTGCCCAGGCGCCTGCAGACTCTGAAAACAGCTGGAGTCTGGCGTGCAGCTGCAGCCAAGGAGAGCCACTGACCTCGACCCATCAGTCAGGGGCAAGGCTGAGGTGAAGCCATGTGCAAGGCCCTTGGTGGGGAAGTGAACGGTCAGGGGGCCCTCCAAGGGCCGGGAGCAAAGGCAGGCGGGGGCTGCAGCCTCTCACCTTCACACCTCGGACGCAGAACTCCGCAAGGGCCCTGCTCATCTTGGTGGCGGCCGTGGGGTGGTCTTTGCCGTGGGCAATGACTTTGACCAGCAGGGAGTCGTAGTGGGGCGAGATGACGGCTCCTTGGAAGGCGGAAGCATTATCCAGGCGGATGCCCATGCCCTCTCCGCTCCGGAACACCTGTGGGAAGGGTGAGGCGTGAGGACCTGCGCCAGAAACTGCGGTCAAAAGTGCCCCACCCACCCCGAGGCTGGCCAGGTGTGCACCCAGCAGCTGCTGAGAGCAGAGCGTGGGGTGTCTGCAGGTGAATCCCAGCTCTGGCTGGTCAGGTTTTGCTGTTTCTGCCACCAAACCCAGGAGTGCGTCCCTTCTCTACGTGCCACGCAGTCACTGCTACTGGCTCCCTGTGAGGAGCTGGGAGGGGGCAGAGGAGGAAGGGAATGCCTGCCGCAGAGCGGGAGAGGGGCCCGGGCAGGCAGGGGCCAGCCCTGCCTCTATTCCCACGGACCTGCTGCACCTGCCTGAGCAACCCTCTAGCCTTTCAGACTCATCCACGTTCGTTCCACAGCACGGATTGAGGTCTGCTGACCCGGCCGCTAAAGGGCCTCGCCGTGGGCTCCCAGACAGCGAGGGGACGGCAGGCCGGCGACAGGGCCTCCAAAGGACCATGTGCGAGGCAAGAGGCAAGGCTGACCGGGGGTTTGTTTTTGTTTTTAACAGGGTGGTGGGGAAGGCCTCAACATCCACCCATGCTCCCTTCCTTTCCTTTCCTTTCCTTCCAGAAGGGAGGATGGGAGGGAGAGGAGGCAACGAGGAGGAAGTGGGAGAGGAAATGAAGGGAAAGTGCCAGAGGCAGGGTCCACACCCATCAGGGAAGCAAACCAAGGGCGAGGAGAGGGCAGCGGGGCAGCGGGACAGGGCCAGGGCCAGACGGCAATGGGAGGGGCAGCGGAGAGGAGGAGACAGAGGCGCCGACACTCACACACACAGGTGGCTCGTGCCGCCTGCACCTGTTCGTGCCGCCCGAGTGAGCCCCGCAGAGAAGGGCTCCCCGGAGGTGGGGGACCCGTCAGGCCCAGGTAAGGAAGAAGGGGAGTGGGGGGACCGCCCAGAGGGGCTCGGGACACCCACTGCCCATTTCCGCTTCTCGGGGGCAGAGGCCTGTGTTCAATAAAAAGGAACTTCATAAAATATTTAAGGGTGAACACTCAGCTGAGAGCAGAAACTGTCGGCTAAAAATACTCTGTGATGAGGCAGGCTCTGAAGAGCCAGGGCTTGGAAGTGGGGATGGAGGGAGGCAGAGAAGTCAGGGGCCGCCGGGCAGCACTCAGCCTGGGGCTGCCGCCACCTACAGACTCTTCCAGAAACAGAAGGCAGGTGGCCAGCTCCCTGCTGAAGCCACAGGCTCTGCTGCTTCCAGAATCCAGAGAGCTCTGGTCCCTACCCCCAGCCTCCCCAGCCTCCCTTGTCTCAGAAGCCCAGAGCCTGGCCCAAACTCATGTTTGCTCCCCTCACCGCCCCACACAAGCCCGGGGGCCTCTGCCTTGGACTCTGGAGCAAAGCTGGAGCTCCATCAATGTCTTGCCTCCTTTGGGGCTCAGGCCCCTGGATAGGGAGCAAGTCCCTAGCACAGCTGGCACGGTGCTGGCAGCACGTGCAGGGCTGGGAACAGGCACCGAGCAGGCCGCAGGGCTCCTGCCCACAGCTGGGACCAGAGGCGGGGGAGATGGGTTTCGGAGGCCAATGACTGGGTCCCGGTGCTGAGAGGAAGAAAGGTACAGGGAGCCCTCCTGGAGAAGGCGCGAGTCTTGCTGTGCTGAGGAGCCTGCCGTGGACCGCCTCAGCGCCCCCTACACCACTCTCTCCCCCACCAAGGCTGCCATCTCGCGGCCCCGAATCTACCTCTCGGTCTCCCTCCTGTGCCGCCATCTCCGACTCCCTCCCCCATCCTTGATGGGCCCCTGAGCTTGGCTCAGACTCCATTGGGACCTCTGGGCCCAGTCCTTTGCCACCCCCACCCCCAGGTCCTGCCATGTCAGCCCATCCCTCAGATGGGAGGTGG
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Task1_train_16134
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The variant affects gene PC (pyruvate carboxylase), which is on Chromosome 11. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; not provided
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AATGCCTTCAACAAATATTAAATAATTTGAAAAGTAGAATAAAAATTCTATATAAAACATCTCTATTGCATCAAACTATGTCTCTAGTAAAACAGGTAAACCGGGAAAGGAGCAAACCAAAGACAGCCGGAGATGCCTGGGTTCCAGCGCCAGCTGTGTGACCCCGAGCAACTCTCCAAATGTCTCTGAGCCTTGCTTTACTCCTCTGACAGATGGGAGCACCTGGGCCTGAGCAATCGGCAGCGTCCTGACAGAGAGGAGGGCTGTCAGTCATTTTTATTTGCTCCTTTGTGCTGATTTTTATAATAACCACGTAATGCTTTTAGAATAATGACTTTTAAAACACTAAGTACCTGGATCCCCATTGCTCTCCACCAATGTGGGGAGTGAGCAAGCCCCCTGGCTGGCCCCAGGAGCCACTTCGCCTGTACTTTATGCAAATCCTAGAAGCCGCGCCTCCCGCCCCGCCTGCCCGCCCACACTCACTCGGTGATCTCCTCTGTGACCGTGTGCTCCACCTGCAGGCGGGAGTTGACCTCGATGAAGTAGTGCTTGCCGTGCCTGTCCACCAGGAACTCCACGGTGCCTGCGTTCTCGTAGCCCACCTGTGGGGGCGGCCACGTGAGCAGGGGAGGGCACAGGCAGGGCCTGGGCAAACTCACTGGACTCAGGACAGGGATTCCGTCCCACCCATTGGGTTGGTTCCGTAAAAGAATGGCCTGTGGCAAACCCTGCCCCCACAGATGGCAGACAGACCCCAGGGCCCAGGTCATGCTCCTGCCTGGACACGTCCCCCAAGTAGTCCACTAGGCTCCAGGGTTCCCGGAGCCACAGATGGCTGCACCCAGCTTATCTGGGACGAGACATGGGCAGAAGCCCCCACCCATCCCAGGCTCGGCACCTTGCCCTGCTGCCTCCTGGGCTTGCCCGCCAAGGCTGTGTCATCCACCCAGACACGGAGACCCAGGCCTCTCCCAGCCGCTGCTTCTGCTTGGAGGTGTTTTCAGAAAGTCCCCTTCTAGTCTACTGCGCAGTCACCTCTGGCCACCACCACCCAAAGAAATTCATTTGAGAGGTACCAACAGATAATGACTCTAACTCAAATTTCAGCCCTAATTCCAGTTTCACTTTTGGTCTCACCAAAACGATAAACCAGACTGAATCACCTCCCTTAAACCTGTTCTGGAATGTGAAATAGTATAAGCCAGTAAATAAGACCTGACTTAAACGCGACCCTGGTCGATGCCTCGCATTAGCTGTGGCTGAGGCCTTGCTGCAGAGTGCACACCCCGGCCTTCGGCATGGGGAGGTGACGCATCCTCTGCTGCCTATAGGCCAGGGAAGAAGAGGGGGCAGGACCCCGCTGCACACCTGGCCACAGCAGGTGCTCTCCAGGCCAGTCCTGGGGCAGGTCACTGTGGGGAGATAGCTTGCCACCTCAGCCTCCTCCACAGCCCAGGACCCCCCGACCAGAGGTCCCAGAAAAGCAGAGATGGGCAGAGGGTGCAGAGCAAGGAAACAGATCATAATAAACATGATGTAGGAGACAGAAGCACATGAGGGAGGACTGCCTTCATAATGGTCCTCAATCTTGACAGAATCCACGGAATCTCATTCTCCTGATGACAGGGATGAGCTGATGCCACAGAGAAGCCAGGTCTGTGTAGCAGCAGGGCTGAGGAGGCGGCTGGGGCTCCTTCCCTCCCTCTTCTCAGCCATCCTGGACTCTAAGCTTGGCCTCTGGGCCAGGTGCCTCAACTGCACATGGGAAGGATGCCACAAACCCACTTCTGGCCCCCAGGAGAGTCCTTCACCCTCTTCTCCCCATCCCCAGTCCCCAGAAGGGGACTCAGGGTCCCCTTCCCCAACCAGCGCCCCACTGTGAGGCCTGCCGGCCTGTGAGCACAGGCTCCTGTCCCAACACGGGAAGCCCACCCTTCACCTGTTTAGCGAGTTTCACAGAGTCGCTGGTGAGCCGAGTCCGAAGCTGCGGGTCCAGGTGGGCGGCGGGGGCAATCTCGACCACCTTCTGGTGCCGCCGCTGGATGGAGCAGTCTCGCTCGTACAGGTGCAGGATGTTCCCATACTGGTCCCCTGGGGAGGGAGGTAAACTGGGCTTAGCTTTTACTGGAATCTACACGCCTCCTAAATGCCCCATCACCCCCACATAACCACTGTCGCCAGTCAGTGCCGGCTGCCAGCGGTACAGAGGCTGCCAGGAGAGACACCAGCATCACCAAGGCTGTGAGGACCAACTGCCAGCTCGGCCCCTAGAGCCCACTTTCCAGAGTCCTCTGGAAAAGCGCCCGACAGGCCCCAGGGCTGTCCCCAAGGCCAGCCACTGTGACGGCACCAGGACTGGGCCTCTCAGCTCCCGCCTCCAGCTGCCCCAGGCGGGGCGTCAGGACCACTCACCCAAGATCTGCACCTCGATGTGCCGTGGCTTCTCGATGAACTTCTCCACAAACAGCGCCCCATTCCCAAAGGCGGCCAGAGCCTCTGAGTAGGCCCGGGTGTAATTCTCCTCCAGCTCCTGCGAGGGCGGGCAGGGGCCAGCCAGACCTCAGACCCCACAGCGCTACCTCTCCCCTGCCATGAACCCCACCCACTTTCCAGATCCCTTGAGTGGTCCGCCCCTGCCCCCACGGCAGGCTGCCCTGCCCTGCTCCCAGCCCTGGGCATCTTCACTCACCTCGTAGCTGTGCACCACCCTCATGCCACGCCCTCCACCCCCATAGGCCGCCTTGAAGATGATGGGGAAGCCGTAGGTGTTGGAGAACTCGTGGGCCTCATGCAGGGACGTGATGGGGGCATCTGTGCCAGGGACAACGGGAACACCTGTTGGGAGAAAGGTGTGGGGGAGTCTCTGTAACAGGCGGGAATCCCTGCCACCCCTCCCTGCTGGACCCTCTCCAGGAGCTGCGGGGCCACCCCTTGCTTGCCCGTTATATTCACCCGCAGCAATGGCGATGGCCCGGGCCTCCACCTTGTCTCCCATCTTGCGGACCACTTCTGGGCTTGGCCCAATAAACCGGACCCCTGCATCCTGGCAGGCCTGGGCGAAGTCCGCTCGCTCAGAGAGGAACCCGTAGCCAGGGTGCACTGCATCTACGTTGTTCTCCTGCAGGTGGGGGTCAGGGAGAGGACGGTACCTTGCAGTCCCTTCCAAGGCCTCGGCCAGCCTCTTCCCCTGCCTAACCTGCTGAGCTGCATCCGTTTACCCACCCACGCACAGAGGCGCTGAGCACGCCAGCCTCAAGAGACCCCCGCGGCAACTAAGACTCCCTGGTCCCTGCTGTCCAGGCCCAGCCAGGCCACTGGGCTCACCTTGGCCACCTTGATGATGTCTGGGATGTGCAGGTAGGCCTGCACGGGGGCCAGGCCGCGGCCGATGAGATAGGCTTCATCTGCTTTCTGCCGGTGCATCTGGCCCGTGTCCTGCTCAGAGTAGATGGCTACGGTGCGGATGCCCAGCTCCGTGCAGGCCCGGAACACACGGATGGCAATCTCACCTAGAGGGCAAAGAAACAAGAAGTTAGATTCCTAGGTCCTAGGAGAAGCAGAAAGGGGAGTGGGAAGCCAGGGCCTGGGGCAGTGAGTGGGAGAAGAATGCCAAGGCTGGGGCGGCCATGAGGCTCCTCTCACCGGCCCCACTGGTGCTCACCTCTGTTGGCCACCATGACTTTCTTGATGGGCTTATACTCCAGGCGCCGGACATTTGGGGAGGCAGCGGGGGCGGTGGAGGTTCGGCGGATTCCCAGGAGCCTCAGGCCCCCATGGACTGTTCGGAACTTCAGCATCTAGGGAGGGAAGTTAGAGCCCAGGTTAGCGCAGCCTCAGCACTGAGGCTCCTCAGAATGAGTGAGGGCCCTTCCCAACCCCACAGTGGCCCCACAGAAAGGCTAGCACCATCTACCTCCTGATGCCTGGCCAAGCCCAACATTTCCTGGCTCTAGAGAAGGGAGCAAATCCAACCCCAAATGGAACCCCCAGCTCAGCCTGATATCCTAACTGTGACTTTATTGTTGTAGAGACAGGGTCTCCCTATGTTGCCTAGGCTGGTCGCAAATGATCCTCCCACCTCAGCCTCCTGAGT
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AATGCCTTCAACAAATATTAAATAATTTGAAAAGTAGAATAAAAATTCTATATAAAACATCTCTATTGCATCAAACTATGTCTCTAGTAAAACAGGTAAACCGGGAAAGGAGCAAACCAAAGACAGCCGGAGATGCCTGGGTTCCAGCGCCAGCTGTGTGACCCCGAGCAACTCTCCAAATGTCTCTGAGCCTTGCTTTACTCCTCTGACAGATGGGAGCACCTGGGCCTGAGCAATCGGCAGCGTCCTGACAGAGAGGAGGGCTGTCAGTCATTTTTATTTGCTCCTTTGTGCTGATTTTTATAATAACCACGTAATGCTTTTAGAATAATGACTTTTAAAACACTAAGTACCTGGATCCCCATTGCTCTCCACCAATGTGGGGAGTGAGCAAGCCCCCTGGCTGGCCCCAGGAGCCACTTCGCCTGTACTTTATGCAAATCCTAGAAGCCGCGCCTCCCGCCCCGCCTGCCCGCCCACACTCACTCGGTGATCTCCTCTGTGACCGTGTGCTCCACCTGCAGGCGGGAGTTGACCTCGATGAAGTAGTGCTTGCCGTGCCTGTCCACCAGGAACTCCACGGTGCCTGCGTTCTCGTAGCCCACCTGTGGGGGCGGCCACGTGAGCAGGGGAGGGCACAGGCAGGGCCTGGGCAAACTCACTGGACTCAGGACAGGGATTCCGTCCCACCCATTGGGTTGGTTCCGTAAAAGAATGGCCTGTGGCAAACCCTGCCCCCACAGATGGCAGACAGACCCCAGGGCCCAGGTCATGCTCCTGCCTGGACACGTCCCCCAAGTAGTCCACTAGGCTCCAGGGTTCCCGGAGCCACAGATGGCTGCACCCAGCTTATCTGGGACGAGACATGGGCAGAAGCCCCCACCCATCCCAGGCTCGGCACCTTGCCCTGCTGCCTCCTGGGCTTGCCCGCCAAGGCTGTGTCATCCACCCAGACACGGAGACCCAGGCCTCTCCCAGCCGCTGCTTCTGCTTGGAGGTGTTTTCAGAAAGTCCCCTTCTAGTCTACTGCGCAGTCACCTCTGGCCACCACCACCCAAAGAAATTCATTTGAGAGGTACCAACAGATAATGACTCTAACTCAAATTTCAGCCCTAATTCCAGTTTCACTTTTGGTCTCACCAAAACGATAAACCAGACTGAATCACCTCCCTTAAACCTGTTCTGGAATGTGAAATAGTATAAGCCAGTAAATAAGACCTGACTTAAACGCGACCCTGGTCGATGCCTCGCATTAGCTGTGGCTGAGGCCTTGCTGCAGAGTGCACACCCCGGCCTTCGGCATGGGGAGGTGACGCATCCTCTGCTGCCTATAGGCCAGGGAAGAAGAGGGGGCAGGACCCCGCTGCACACCTGGCCACAGCAGGTGCTCTCCAGGCCAGTCCTGGGGCAGGTCACTGTGGGGAGATAGCTTGCCACCTCAGCCTCCTCCACAGCCCAGGACCCCCCGACCAGAGGTCCCAGAAAAGCAGAGATGGGCAGAGGGTGCAGAGCAAGGAAACAGATCATAATAAACATGATGTAGGAGACAGAAGCACATGAGGGAGGACTGCCTTCATAATGGTCCTCAATCTTGACAGAATCCACGGAATCTCATTCTCCTGATGACAGGGATGAGCTGATGCCACAGAGAAGCCAGGTCTGTGTAGCAGCAGGGCTGAGGAGGCGGCTGGGGCTCCTTCCCTCCCTCTTCTCAGCCATCCTGGACTCTAAGCTTGGCCTCTGGGCCAGGTGCCTCAACTGCACATGGGAAGGATGCCACAAACCCACTTCTGGCCCCCAGGAGAGTCCTTCACCCTCTTCTCCCCATCCCCAGTCCCCAGAAGGGGACTCAGGGTCCCCTTCCCCAACCAGCGCCCCACTGTGAGGCCTGCCGGCCTGTGAGCACAGGCTCCTGTCCCAACACGGGAAGCCCACCCTTCACCTGTTTAGCGAGTTTCACAGAGTCGCTGGTGAGCCGAGTCCGAAGCTGCGGGTCCAGGTGGGCGGCGGGGGCAATCTCGACCACCTTCTGGTGCCGCCGCTGGATGTAGCAGTCTCGCTCGTACAGGTGCAGGATGTTCCCATACTGGTCCCCTGGGGAGGGAGGTAAACTGGGCTTAGCTTTTACTGGAATCTACACGCCTCCTAAATGCCCCATCACCCCCACATAACCACTGTCGCCAGTCAGTGCCGGCTGCCAGCGGTACAGAGGCTGCCAGGAGAGACACCAGCATCACCAAGGCTGTGAGGACCAACTGCCAGCTCGGCCCCTAGAGCCCACTTTCCAGAGTCCTCTGGAAAAGCGCCCGACAGGCCCCAGGGCTGTCCCCAAGGCCAGCCACTGTGACGGCACCAGGACTGGGCCTCTCAGCTCCCGCCTCCAGCTGCCCCAGGCGGGGCGTCAGGACCACTCACCCAAGATCTGCACCTCGATGTGCCGTGGCTTCTCGATGAACTTCTCCACAAACAGCGCCCCATTCCCAAAGGCGGCCAGAGCCTCTGAGTAGGCCCGGGTGTAATTCTCCTCCAGCTCCTGCGAGGGCGGGCAGGGGCCAGCCAGACCTCAGACCCCACAGCGCTACCTCTCCCCTGCCATGAACCCCACCCACTTTCCAGATCCCTTGAGTGGTCCGCCCCTGCCCCCACGGCAGGCTGCCCTGCCCTGCTCCCAGCCCTGGGCATCTTCACTCACCTCGTAGCTGTGCACCACCCTCATGCCACGCCCTCCACCCCCATAGGCCGCCTTGAAGATGATGGGGAAGCCGTAGGTGTTGGAGAACTCGTGGGCCTCATGCAGGGACGTGATGGGGGCATCTGTGCCAGGGACAACGGGAACACCTGTTGGGAGAAAGGTGTGGGGGAGTCTCTGTAACAGGCGGGAATCCCTGCCACCCCTCCCTGCTGGACCCTCTCCAGGAGCTGCGGGGCCACCCCTTGCTTGCCCGTTATATTCACCCGCAGCAATGGCGATGGCCCGGGCCTCCACCTTGTCTCCCATCTTGCGGACCACTTCTGGGCTTGGCCCAATAAACCGGACCCCTGCATCCTGGCAGGCCTGGGCGAAGTCCGCTCGCTCAGAGAGGAACCCGTAGCCAGGGTGCACTGCATCTACGTTGTTCTCCTGCAGGTGGGGGTCAGGGAGAGGACGGTACCTTGCAGTCCCTTCCAAGGCCTCGGCCAGCCTCTTCCCCTGCCTAACCTGCTGAGCTGCATCCGTTTACCCACCCACGCACAGAGGCGCTGAGCACGCCAGCCTCAAGAGACCCCCGCGGCAACTAAGACTCCCTGGTCCCTGCTGTCCAGGCCCAGCCAGGCCACTGGGCTCACCTTGGCCACCTTGATGATGTCTGGGATGTGCAGGTAGGCCTGCACGGGGGCCAGGCCGCGGCCGATGAGATAGGCTTCATCTGCTTTCTGCCGGTGCATCTGGCCCGTGTCCTGCTCAGAGTAGATGGCTACGGTGCGGATGCCCAGCTCCGTGCAGGCCCGGAACACACGGATGGCAATCTCACCTAGAGGGCAAAGAAACAAGAAGTTAGATTCCTAGGTCCTAGGAGAAGCAGAAAGGGGAGTGGGAAGCCAGGGCCTGGGGCAGTGAGTGGGAGAAGAATGCCAAGGCTGGGGCGGCCATGAGGCTCCTCTCACCGGCCCCACTGGTGCTCACCTCTGTTGGCCACCATGACTTTCTTGATGGGCTTATACTCCAGGCGCCGGACATTTGGGGAGGCAGCGGGGGCGGTGGAGGTTCGGCGGATTCCCAGGAGCCTCAGGCCCCCATGGACTGTTCGGAACTTCAGCATCTAGGGAGGGAAGTTAGAGCCCAGGTTAGCGCAGCCTCAGCACTGAGGCTCCTCAGAATGAGTGAGGGCCCTTCCCAACCCCACAGTGGCCCCACAGAAAGGCTAGCACCATCTACCTCCTGATGCCTGGCCAAGCCCAACATTTCCTGGCTCTAGAGAAGGGAGCAAATCCAACCCCAAATGGAACCCCCAGCTCAGCCTGATATCCTAACTGTGACTTTATTGTTGTAGAGACAGGGTCTCCCTATGTTGCCTAGGCTGGTCGCAAATGATCCTCCCACCTCAGCCTCCTGAGT
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Task1_train_16135
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Here’s a variant in PC (pyruvate carboxylase) located on Chromosome 11. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Pyruvate carboxylase deficiency
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GACCCAGGCCTCTCCCAGCCGCTGCTTCTGCTTGGAGGTGTTTTCAGAAAGTCCCCTTCTAGTCTACTGCGCAGTCACCTCTGGCCACCACCACCCAAAGAAATTCATTTGAGAGGTACCAACAGATAATGACTCTAACTCAAATTTCAGCCCTAATTCCAGTTTCACTTTTGGTCTCACCAAAACGATAAACCAGACTGAATCACCTCCCTTAAACCTGTTCTGGAATGTGAAATAGTATAAGCCAGTAAATAAGACCTGACTTAAACGCGACCCTGGTCGATGCCTCGCATTAGCTGTGGCTGAGGCCTTGCTGCAGAGTGCACACCCCGGCCTTCGGCATGGGGAGGTGACGCATCCTCTGCTGCCTATAGGCCAGGGAAGAAGAGGGGGCAGGACCCCGCTGCACACCTGGCCACAGCAGGTGCTCTCCAGGCCAGTCCTGGGGCAGGTCACTGTGGGGAGATAGCTTGCCACCTCAGCCTCCTCCACAGCCCAGGACCCCCCGACCAGAGGTCCCAGAAAAGCAGAGATGGGCAGAGGGTGCAGAGCAAGGAAACAGATCATAATAAACATGATGTAGGAGACAGAAGCACATGAGGGAGGACTGCCTTCATAATGGTCCTCAATCTTGACAGAATCCACGGAATCTCATTCTCCTGATGACAGGGATGAGCTGATGCCACAGAGAAGCCAGGTCTGTGTAGCAGCAGGGCTGAGGAGGCGGCTGGGGCTCCTTCCCTCCCTCTTCTCAGCCATCCTGGACTCTAAGCTTGGCCTCTGGGCCAGGTGCCTCAACTGCACATGGGAAGGATGCCACAAACCCACTTCTGGCCCCCAGGAGAGTCCTTCACCCTCTTCTCCCCATCCCCAGTCCCCAGAAGGGGACTCAGGGTCCCCTTCCCCAACCAGCGCCCCACTGTGAGGCCTGCCGGCCTGTGAGCACAGGCTCCTGTCCCAACACGGGAAGCCCACCCTTCACCTGTTTAGCGAGTTTCACAGAGTCGCTGGTGAGCCGAGTCCGAAGCTGCGGGTCCAGGTGGGCGGCGGGGGCAATCTCGACCACCTTCTGGTGCCGCCGCTGGATGGAGCAGTCTCGCTCGTACAGGTGCAGGATGTTCCCATACTGGTCCCCTGGGGAGGGAGGTAAACTGGGCTTAGCTTTTACTGGAATCTACACGCCTCCTAAATGCCCCATCACCCCCACATAACCACTGTCGCCAGTCAGTGCCGGCTGCCAGCGGTACAGAGGCTGCCAGGAGAGACACCAGCATCACCAAGGCTGTGAGGACCAACTGCCAGCTCGGCCCCTAGAGCCCACTTTCCAGAGTCCTCTGGAAAAGCGCCCGACAGGCCCCAGGGCTGTCCCCAAGGCCAGCCACTGTGACGGCACCAGGACTGGGCCTCTCAGCTCCCGCCTCCAGCTGCCCCAGGCGGGGCGTCAGGACCACTCACCCAAGATCTGCACCTCGATGTGCCGTGGCTTCTCGATGAACTTCTCCACAAACAGCGCCCCATTCCCAAAGGCGGCCAGAGCCTCTGAGTAGGCCCGGGTGTAATTCTCCTCCAGCTCCTGCGAGGGCGGGCAGGGGCCAGCCAGACCTCAGACCCCACAGCGCTACCTCTCCCCTGCCATGAACCCCACCCACTTTCCAGATCCCTTGAGTGGTCCGCCCCTGCCCCCACGGCAGGCTGCCCTGCCCTGCTCCCAGCCCTGGGCATCTTCACTCACCTCGTAGCTGTGCACCACCCTCATGCCACGCCCTCCACCCCCATAGGCCGCCTTGAAGATGATGGGGAAGCCGTAGGTGTTGGAGAACTCGTGGGCCTCATGCAGGGACGTGATGGGGGCATCTGTGCCAGGGACAACGGGAACACCTGTTGGGAGAAAGGTGTGGGGGAGTCTCTGTAACAGGCGGGAATCCCTGCCACCCCTCCCTGCTGGACCCTCTCCAGGAGCTGCGGGGCCACCCCTTGCTTGCCCGTTATATTCACCCGCAGCAATGGCGATGGCCCGGGCCTCCACCTTGTCTCCCATCTTGCGGACCACTTCTGGGCTTGGCCCAATAAACCGGACCCCTGCATCCTGGCAGGCCTGGGCGAAGTCCGCTCGCTCAGAGAGGAACCCGTAGCCAGGGTGCACTGCATCTACGTTGTTCTCCTGCAGGTGGGGGTCAGGGAGAGGACGGTACCTTGCAGTCCCTTCCAAGGCCTCGGCCAGCCTCTTCCCCTGCCTAACCTGCTGAGCTGCATCCGTTTACCCACCCACGCACAGAGGCGCTGAGCACGCCAGCCTCAAGAGACCCCCGCGGCAACTAAGACTCCCTGGTCCCTGCTGTCCAGGCCCAGCCAGGCCACTGGGCTCACCTTGGCCACCTTGATGATGTCTGGGATGTGCAGGTAGGCCTGCACGGGGGCCAGGCCGCGGCCGATGAGATAGGCTTCATCTGCTTTCTGCCGGTGCATCTGGCCCGTGTCCTGCTCAGAGTAGATGGCTACGGTGCGGATGCCCAGCTCCGTGCAGGCCCGGAACACACGGATGGCAATCTCACCTAGAGGGCAAAGAAACAAGAAGTTAGATTCCTAGGTCCTAGGAGAAGCAGAAAGGGGAGTGGGAAGCCAGGGCCTGGGGCAGTGAGTGGGAGAAGAATGCCAAGGCTGGGGCGGCCATGAGGCTCCTCTCACCGGCCCCACTGGTGCTCACCTCTGTTGGCCACCATGACTTTCTTGATGGGCTTATACTCCAGGCGCCGGACATTTGGGGAGGCAGCGGGGGCGGTGGAGGTTCGGCGGATTCCCAGGAGCCTCAGGCCCCCATGGACTGTTCGGAACTTCAGCATCTAGGGAGGGAAGTTAGAGCCCAGGTTAGCGCAGCCTCAGCACTGAGGCTCCTCAGAATGAGTGAGGGCCCTTCCCAACCCCACAGTGGCCCCACAGAAAGGCTAGCACCATCTACCTCCTGATGCCTGGCCAAGCCCAACATTTCCTGGCTCTAGAGAAGGGAGCAAATCCAACCCCAAATGGAACCCCCAGCTCAGCCTGATATCCTAACTGTGACTTTATTGTTGTAGAGACAGGGTCTCCCTATGTTGCCTAGGCTGGTCGCAAATGATCCTCCCACCTCAGCCTCCTGAGTAGTTAAGACTACAGGTGTGAGCTGCCGTACCCAGCATAATATGCACTATAACTTTTAAAAGTATCAGGTTGGCCCACCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAAAATTAGCCGGGCGTGGTGGCGGGCATCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCAGAGCTTGCAGCGAGCCGAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGGGCAAGACTCCGTCTCAAAAAAAATAAAAGTATCAGGTTGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGAGGAGCACCTTACATCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGCCTCTTACTAAAAATATAAAAATTAGCCGGGCATGGTGGCACACGCCTGTAATTCTAGCTACTCAGGAGGCTGAGGCACGAGAATCGCTTGAACCTAGAAGACAGAGGTTGCAGTGAGCTGAGATTGCGCCACTGCCCTCAGCCTGGGTGACATCAAGACTCTGTCCCAGGAAAAAAAAAAAGTATAATACTTCAGGTTGGGCACGGTGGCTCACACCTGTAAACCCAGCACTTTGGGAGGCCAAGGCACATTTGTGTGAGCTCAAGAGTTTGAAACCCACCTGGGCAACATGGTGAAACCCTGTCTCTACAGAAAATATAAAACTTAGCCAGGCATGGTGGCACATGCCTGTAATCCCAGCTACTTGGGAGGGTGAGGCATGAGAATCACTTGAGCCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATGGCACCACTGTACCAGTCTGGGTGACACAGCAAGACTCCATCTTTAAAAAATATATATATATTATATATAATATATTATATATAAAATATAAAATATTATATATAATATAATATAAATATAT
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GACCCAGGCCTCTCCCAGCCGCTGCTTCTGCTTGGAGGTGTTTTCAGAAAGTCCCCTTCTAGTCTACTGCGCAGTCACCTCTGGCCACCACCACCCAAAGAAATTCATTTGAGAGGTACCAACAGATAATGACTCTAACTCAAATTTCAGCCCTAATTCCAGTTTCACTTTTGGTCTCACCAAAACGATAAACCAGACTGAATCACCTCCCTTAAACCTGTTCTGGAATGTGAAATAGTATAAGCCAGTAAATAAGACCTGACTTAAACGCGACCCTGGTCGATGCCTCGCATTAGCTGTGGCTGAGGCCTTGCTGCAGAGTGCACACCCCGGCCTTCGGCATGGGGAGGTGACGCATCCTCTGCTGCCTATAGGCCAGGGAAGAAGAGGGGGCAGGACCCCGCTGCACACCTGGCCACAGCAGGTGCTCTCCAGGCCAGTCCTGGGGCAGGTCACTGTGGGGAGATAGCTTGCCACCTCAGCCTCCTCCACAGCCCAGGACCCCCCGACCAGAGGTCCCAGAAAAGCAGAGATGGGCAGAGGGTGCAGAGCAAGGAAACAGATCATAATAAACATGATGTAGGAGACAGAAGCACATGAGGGAGGACTGCCTTCATAATGGTCCTCAATCTTGACAGAATCCACGGAATCTCATTCTCCTGATGACAGGGATGAGCTGATGCCACAGAGAAGCCAGGTCTGTGTAGCAGCAGGGCTGAGGAGGCGGCTGGGGCTCCTTCCCTCCCTCTTCTCAGCCATCCTGGACTCTAAGCTTGGCCTCTGGGCCAGGTGCCTCAACTGCACATGGGAAGGATGCCACAAACCCACTTCTGGCCCCCAGGAGAGTCCTTCACCCTCTTCTCCCCATCCCCAGTCCCCAGAAGGGGACTCAGGGTCCCCTTCCCCAACCAGCGCCCCACTGTGAGGCCTGCCGGCCTGTGAGCACAGGCTCCTGTCCCAACACGGGAAGCCCACCCTTCACCTGTTTAGCGAGTTTCACAGAGTCGCTGGTGAGCCGAGTCCGAAGCTGCGGGTCCAGGTGGGCGGCGGGGGCAATCTCGACCACCTTCTGGTGCCGCCGCTGGATGGAGCAGTCTCGCTCGTACAGGTGCAGGATGTTCCCATACTGGTCCCCTGGGGAGGGAGGTAAACTGGGCTTAGCTTTTACTGGAATCTACACGCCTCCTAAATGCCCCATCACCCCCACATAACCACTGTCGCCAGTCAGTGCCGGCTGCCAGCGGTACAGAGGCTGCCAGGAGAGACACCAGCATCACCAAGGCTGTGAGGACCAACTGCCAGCTCGGCCCCTAGAGCCCACTTTCCAGAGTCCTCTGGAAAAGCGCCCGACAGGCCCCAGGGCTGTCCCCAAGGCCAGCCACTGTGACGGCACCAGGACTGGGCCTCTCAGCTCCCGCCTCCAGCTGCCCCAGGCGGGGCGTCAGGACCACTCACCCAAGATCTGCACCTCGATGTGCCGTGGCTTCTCGATGAACTTCTCCACAAACAGCGCCCCATTCCCAAAGGCGGCCAGAGCCTCTGAGTAGGCCCGGGTGTAATTCTCCTCCAGCTCCTGCGAGGGCGGGCAGGGGCCAGCCAGACCTCAGACCCCACAGCGCTACCTCTCCCCTGCCATGAACCCCACCCACTTTCCAGATCCCTTGAGTGGTCCGCCCCTGCCCCCACGGCAGGCTGCCCTGCCCTGCTCCCAGCCCTGGGCATCTTCACTCACCTCGTAGCTGTGCACCACCCTCATGCCACGCCCTCCACCCCCATAGGCCGCCTTGAAGATGATGGGGAAGCCGTAGGTGTTGGAGAACTCGTGGGCCTCATGCAGGGACGTGATGGGGGCATCTGTGCCAGGGACAACGGGAACACCTGTTGGGAGAAAGGTGTGGGGGAGTCTCTGTAACAGGCGGGAATCCCTGCCACCCCTCCCTGCTGGACCCTCTCCAGGAGCTGCGGGGCCACCCCTTGCTTGCCCGTTATATTCACCCGCAGCAATGGCGATGGCCCGGGCCTCCACCTTGTCTCCCATCTTGCGGACCGCTTCTGGGCTTGGCCCAATAAACCGGACCCCTGCATCCTGGCAGGCCTGGGCGAAGTCCGCTCGCTCAGAGAGGAACCCGTAGCCAGGGTGCACTGCATCTACGTTGTTCTCCTGCAGGTGGGGGTCAGGGAGAGGACGGTACCTTGCAGTCCCTTCCAAGGCCTCGGCCAGCCTCTTCCCCTGCCTAACCTGCTGAGCTGCATCCGTTTACCCACCCACGCACAGAGGCGCTGAGCACGCCAGCCTCAAGAGACCCCCGCGGCAACTAAGACTCCCTGGTCCCTGCTGTCCAGGCCCAGCCAGGCCACTGGGCTCACCTTGGCCACCTTGATGATGTCTGGGATGTGCAGGTAGGCCTGCACGGGGGCCAGGCCGCGGCCGATGAGATAGGCTTCATCTGCTTTCTGCCGGTGCATCTGGCCCGTGTCCTGCTCAGAGTAGATGGCTACGGTGCGGATGCCCAGCTCCGTGCAGGCCCGGAACACACGGATGGCAATCTCACCTAGAGGGCAAAGAAACAAGAAGTTAGATTCCTAGGTCCTAGGAGAAGCAGAAAGGGGAGTGGGAAGCCAGGGCCTGGGGCAGTGAGTGGGAGAAGAATGCCAAGGCTGGGGCGGCCATGAGGCTCCTCTCACCGGCCCCACTGGTGCTCACCTCTGTTGGCCACCATGACTTTCTTGATGGGCTTATACTCCAGGCGCCGGACATTTGGGGAGGCAGCGGGGGCGGTGGAGGTTCGGCGGATTCCCAGGAGCCTCAGGCCCCCATGGACTGTTCGGAACTTCAGCATCTAGGGAGGGAAGTTAGAGCCCAGGTTAGCGCAGCCTCAGCACTGAGGCTCCTCAGAATGAGTGAGGGCCCTTCCCAACCCCACAGTGGCCCCACAGAAAGGCTAGCACCATCTACCTCCTGATGCCTGGCCAAGCCCAACATTTCCTGGCTCTAGAGAAGGGAGCAAATCCAACCCCAAATGGAACCCCCAGCTCAGCCTGATATCCTAACTGTGACTTTATTGTTGTAGAGACAGGGTCTCCCTATGTTGCCTAGGCTGGTCGCAAATGATCCTCCCACCTCAGCCTCCTGAGTAGTTAAGACTACAGGTGTGAGCTGCCGTACCCAGCATAATATGCACTATAACTTTTAAAAGTATCAGGTTGGCCCACCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAAAATTAGCCGGGCGTGGTGGCGGGCATCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCAGAGCTTGCAGCGAGCCGAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGGGCAAGACTCCGTCTCAAAAAAAATAAAAGTATCAGGTTGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGAGGAGCACCTTACATCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGCCTCTTACTAAAAATATAAAAATTAGCCGGGCATGGTGGCACACGCCTGTAATTCTAGCTACTCAGGAGGCTGAGGCACGAGAATCGCTTGAACCTAGAAGACAGAGGTTGCAGTGAGCTGAGATTGCGCCACTGCCCTCAGCCTGGGTGACATCAAGACTCTGTCCCAGGAAAAAAAAAAAGTATAATACTTCAGGTTGGGCACGGTGGCTCACACCTGTAAACCCAGCACTTTGGGAGGCCAAGGCACATTTGTGTGAGCTCAAGAGTTTGAAACCCACCTGGGCAACATGGTGAAACCCTGTCTCTACAGAAAATATAAAACTTAGCCAGGCATGGTGGCACATGCCTGTAATCCCAGCTACTTGGGAGGGTGAGGCATGAGAATCACTTGAGCCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATGGCACCACTGTACCAGTCTGGGTGACACAGCAAGACTCCATCTTTAAAAAATATATATATATTATATATAATATATTATATATAAAATATAAAATATTATATATAATATAATATAAATATAT
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Task1_train_16136
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Here is a mutation in GRK2 (G protein-coupled receptor kinase 2) on Chromosome 11. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Jeune thoracic dystrophy
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AGAAGTTTCATGTGACCCACCCTGCGGACCTGGCCCGGAGGGCAGGCTTGGGGCAGGTCTCGGGAAGCAGGCTCCAGCCCCACATGGCTCTGATTTGGCCTTCCCGAGAACAGGAGCTCAGCTCTGGACAGGGGGTATCCTGGCCTGATGGGATCAGGCATTGGGGGTCAGCCTGGGGGAGTCGGTGTGTCAAGAAGCACAAAGTTTGGGTCCCAGGCCTGTGCCTTTTGTCCTTGGGCAAGTTGCTTCACCTCTCTGAGCCTGATGGTGTCCTCATCTGGGAGATGGGACTCATGAGTCCGACTGTGCAGGCCTGTCAGAGTCAGATGGGAGCACTGTGCCCACTGTGAAGCCTGGCCCCCATTCCTCAAAGGCCCTGCACTAAAGGCCAGGCAGTGAGGACTGAAATGATGGCCGCAGCTCTGACCCAGGTGCCCAGGCAGTGCCCCCGAAGGCATGAGAGGCCACCCAGCTCGAGCCTGGTTACCCGTGTCAGACTGGAGGCCTGAGGAGGGCCTCTGTCCCCTGGTAGTGCTCGGGGGCCGGGGTCCAGGGTCCAGGCCCCTTACTCAGGCATGAGGACACCCTATCTGGGGTCCCCTGAGAGCCCCTCCCACAGCCCACCTTGCCTCTCCAGTTCCCTGTGGCTTACACCCGTTCCATGCCCCCTGCCCTGAGGCCCCAGCCCCAACCTCTTTCCCAGGGACCTGCCATTTGGTGGAGTAGCCCTGAGTTCCACTTGAGCCTCTGCCACAGACAGTGTGTCTGACCAGCTCCCTGAGCCCTAGTTTCCCCAACTGGACCCACCCTCCCTGCCTGTTTCTCAGGCTGCTGTGCAAATCAGCCAGACACTGGAGTGGGGCAGGGTCCAGAGGAGTGGTGTGGCCTCAGAGCCCCCTGCTAACCTTTTCCCCATGCTGCAGCCTGACCTGGCCCCGGTGGCCACAGCATCCCAGGGCCCCCAGACTGAATCGTGTTGCACCTGCACAGCCCGCCCCGGTGGGGGGTATCGGCCTCACAGAGCAGGCGCAGGGCCCTGGGCTGCAGTGAGTGGGGGCCCAGGTGCTAAGCCAGGGCTCCCTGATGCCAGAGCCAACCCCGCTCCTCTGCCTCACCCTGGTGCCCATCGCCGTCCAGCTACCACCTGGGGAAACAGATTTCAGGAAGAGGGTAGAAACACAGGGGCCCCAACCCAGAATCCAGGAATCTTCACGTTGGCAGCAGCCTTAGCAGCTGCCTGGCCCACCCCTTGCCTGGGGCCGAGACCACCTTTGCCACCTCCATAGCCAGTTCTGCCCAGGGAGCCCAACCCACACCATCCACAATGATGGGAAGGCCTCTGAGAGAGGCGTGGCTCTGTGACCTTACACTGTTGCCTTCAGGGTACCTGCTCTTCCGAGACTTCTGCCTGAACCACCTGGAGGAGGCCAGGCCCTTGGTGGAATTCTATGAGGAGGTGAGACCCAGAGGCCCAAGCCCTGCTCTGCCTGGAGAAAGGGGAGGAGGTTGGGGCGGCTTTGTGGAACCCACAAGCTGCCTGGTGTGGGCATCCCCATTCCCTGCTGGGCTCTAGATGACCTGCAGGAATCCTGTCCTCCAGATCAAGAAGTACGAGAAGCTGGAGACGGAGGAGGAGCGTGTGGCCCGCAGCCGGGAGATCTTCGACTCATACATCATGAAGGAGCTGCTGGCCTGCTCGCATGTGAGTGTCCTCAGCTGGCCCTGTGTGCTGGCCCAGAGTCACCTGCAGATTGGGAGGGGAAGAGAGGACCCTGCTGAGAATTCATGGCCACCTCTGTCTTCCCCAGCCCTTCTCGAAGAGTGCCACTGAGCATGTCCAAGGCCACCTGGGGAAGAAGCAGGTGCCTCCGGATCTCTTCCAGGTGTGTGCCTCCCGGTCCCTCCCCAGGCAAGGTCACCTTGGACAGCCCCTGGTCAACAAGCCTGGTCAGCCAGGGGTGGGGCCTGGGCAACCACGGTCTCTCGGGGCTCAGTCACCAACTTCCAGCTTCCTCCCTTAGCCATACATCGAAGAGATTTGTCAAAACCTCCGAGGGGACGTGTTCCAGAAATTCATTGAGAGGTGAGAGCAGGGAAGTGTGGGAGAGGAAGGGGGAGGGAGGGGCCGCTCTCAGAAGGGGTATGGCTGGCGTGGAGGGCAGAAGCCAGCCTTCATTAGGCCCTGAGCAGGCAGGTGGCTGGCCCGTCAGCGGCCCCCTTGCAAGGACTCCTGAGAAGTCAGACAGGCTGCAGGTCATCTCCCACCCTGCCCTCCTCAGCACCAGGCAGCTCAAAGCCCATCCCAGGCAGTCTCCTAGCTCCAGGGAGCTAGGAGAGCTGTGCCACCTGTGCCTCTTTCTCTCCCGTGGGCTGTATAGCACCTTGCTGGCCCACCTGGACTGAGAAGCATCAGAGTCCTGGTAGGGGTAGGCCCAGTAGAGCGCATGGCCCCCGTGACCCTCACAGCCAGAGTTGGCGCGGTGGGTGGGAATTGTAGGTAGATTTCAGCCAGCTTTAGGGAGCAGCTGTTTTAGGGTCACTGCTGCCCAGCCATGGAGTGAGCTCTGTGTCACTGGGGGTATGCAAGCAGGGACAGGAGACGTACTTGTCAAGGATATGGTAGCAGGAAGTCTGGGTTAGACTGGAAGACCTCCTTTCTGTGCGGATCTGATTCCAGCAGGAAGCCACGGCCAGGTGGCCGAGGGCCATGCTGGGCACCCAAGCAGCCCTGACTGGTGCTGTGGGCGGGCAGGCCCTCAACATATCCTTCCTGGAAGAGGACATTAACGCTCGTGATGTTTCCACACCTACCCTCACGGGACCCCAGGGAGTGGCGGCTGGGTGGGGAGGCTCACGACAGCATCATCCTTCCCACATTCTGAGTGGCCCCTGAGCCCTGATTCTTCTTTTCCAGCGATAAGTTCACACGGTTTTGCCAGTGGAAGAATGTGGAGCTCAACATCCACGTGAGTGGGCTTGGGTGGGGCATGGAAAGCCACGCACCCTGCTGCTCCTCTCCCGGGAGCTGGGCCTGTGGCTTGGCTGGGAGGGGGAGGTCAGGGGATGTCTGTCCTTTAGCCCCCAGGGCCGTGGCTATGGGGGTCAGGGCCGGGATCCCAGCATGGGGAGGCCGGAGCAGGTAAATATGTGGCAAGGATGGCCAGGACATGGGTATGGGGACCCTGGCATGGGGCCAGCCCCTGCTGCCCAGGTGCCTCTGCCCCAGGGCTGGGCAGAGGCAGCCTGTGGTGACCGCAGCTGTCGCTGCCCCTCAGCTGACCATGAATGACTTCAGCGTGCATCGCATCATTGGGCGCGGGGGCTTTGGCGAGGTCTATGGGTGCCGGAAGGCTGACACAGGCAAGATGTGAGCACCCTGCTCGGCGCGGTGGGATACCTCGGGGAGCCGGGCTCCTGGGGGACCCTGACAGGCCGGGTTCCACACAGGGCCACCTGCTGCTCCATGCACTCCTGTCTTGCCGTGCTGTTACCCCCGCAGGCTCCTCTGGCCCCAGCCCTCCCTGTCTCTGATTTGTGTCACACGCTGGTCCTGGGTCTAGTCTTTCCCTCAAGCGCCCCCTGAGGCAGCCCTGGGCCCCTGCTCTGAGGGTGGGTGTTGACTGCCGACCTCTGCCCCGTAGGTACGCCATGAAGTGCCTGGACAAAAAGCGCATCAAGATGAAGCAGGGGGAGACCCTGGCCCTGAACGAGCGCATCATGCTCTCGCTCGTCAGCACTGGGGTGAGCTGGGTGGGCCGGGCTGCCGCTGAGGCTCTGGAACCCCGGGCGCCCCTGCTAACTGCCCGCCCCCTCCCCTCCTCTCCCCTCCTAGGACTGCCCATTCATTGTCTGCATGTCATACGCGTTCCACACGCCAGACAAGCTCAGCTTCATCCTGGACCTCATGAACGGTGAGTGCTGGCCGGGCCCTAGGGTGGGCCGGGCCCAGGCACGGGAGGCTGGGGCAAGACACTGAGTGCTGCCTGTGGGACTGCCTCCCTCAGGTGGGGACCTGCACTACCACCTCTCCCAGCACGGGGTCTTCTCAGAGGCTGACATGCGCTTCTATGCGGCCGAGATCATCCTGGGCCTGGAG
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AGAAGTTTCATGTGACCCACCCTGCGGACCTGGCCCGGAGGGCAGGCTTGGGGCAGGTCTCGGGAAGCAGGCTCCAGCCCCACATGGCTCTGATTTGGCCTTCCCGAGAACAGGAGCTCAGCTCTGGACAGGGGGTATCCTGGCCTGATGGGATCAGGCATTGGGGGTCAGCCTGGGGGAGTCGGTGTGTCAAGAAGCACAAAGTTTGGGTCCCAGGCCTGTGCCTTTTGTCCTTGGGCAAGTTGCTTCACCTCTCTGAGCCTGATGGTGTCCTCATCTGGGAGATGGGACTCATGAGTCCGACTGTGCAGGCCTGTCAGAGTCAGATGGGAGCACTGTGCCCACTGTGAAGCCTGGCCCCCATTCCTCAAAGGCCCTGCACTAAAGGCCAGGCAGTGAGGACTGAAATGATGGCCGCAGCTCTGACCCAGGTGCCCAGGCAGTGCCCCCGAAGGCATGAGAGGCCACCCAGCTCGAGCCTGGTTACCCGTGTCAGACTGGAGGCCTGAGGAGGGCCTCTGTCCCCTGGTAGTGCTCGGGGGCCGGGGTCCAGGGTCCAGGCCCCTTACTCAGGCATGAGGACACCCTATCTGGGGTCCCCTGAGAGCCCCTCCCACAGCCCACCTTGCCTCTCCAGTTCCCTGTGGCTTACACCCGTTCCATGCCCCCTGCCCTGAGGCCCCAGCCCCAACCTCTTTCCCAGGGACCTGCCATTTGGTGGAGTAGCCCTGAGTTCCACTTGAGCCTCTGCCACAGACAGTGTGTCTGACCAGCTCCCTGAGCCCTAGTTTCCCCAACTGGACCCACCCTCCCTGCCTGTTTCTCAGGCTGCTGTGCAAATCAGCCAGACACTGGAGTGGGGCAGGGTCCAGAGGAGTGGTGTGGCCTCAGAGCCCCCTGCTAACCTTTTCCCCATGCTGCAGCCTGACCTGGCCCCGGTGGCCACAGCATCCCAGGGCCCCCAGACTGAATCGTGTTGCACCTGCACAGCCCGCCCCGGTGGGGGGTATCGGCCTCACAGAGCAGGCGCAGGGCCCTGGGCTGCAGTGAGTGGGGGCCCAGGTGCTAAGCCAGGGCTCCCTGATGCCAGAGCCAACCCCGCTCCTCTGCCTCACCCTGGTGCCCATCGCCGTCCAGCTACCACCTGGGGAAACAGATTTCAGGAAGAGGGTAGAAACACAGGGGCCCCAACCCAGAATCCAGGAATCTTCACGTTGGCAGCAGCCTTAGCAGCTGCCTGGCCCACCCCTTGCCTGGGGCCGAGACCACCTTTGCCACCTCCATAGCCAGTTCTGCCCAGGGAGCCCAACCCACACCATCCACAATGATGGGAAGGCCTCTGAGAGAGGCGTGGCTCTGTGACCTTACACTGTTGCCTTCAGGGTACCTGCTCTTCCGAGACTTCTGCCTGAACCACCTGGAGGAGGCCAGGCCCTTGGTGGAATTCTATGAGGAGGTGAGACCCAGAGGCCCAAGCCCTGCTCTGCCTGGAGAAAGGGGAGGAGGTTGGGGCGGCTTTGTGGAACCCACAAGCTGCCTGGTGTGGGCATCCCCATTCCCTGCTGGGCTCTAGATGACCTGCAGGAATCCTGTCCTCCAGATCAAGAAGTACGAGAAGCTGGAGACGGAGGAGGAGCGTGTGGCCCGCAGCCGGGAGATCTTCGACTCATACATCATGAAGGAGCTGCTGGCCTGCTCGCATGTGAGTGTCCTCAGCTGGCCCTGTGTGCTGGCCCAGAGTCACCTGCAGATTGGGAGGGGAAGAGAGGACCCTGCTGAGAATTCATGGCCACCTCTGTCTTCCCCAGCCCTTCTCGAAGAGTGCCACTGAGCATGTCCAAGGCCACCTGGGGAAGAAGCAGGTGCCTCCGGATCTCTTCCAGGTGTGTGCCTCCCGGTCCCTCCCCAGGCAAGGTCACCTTGGACAGCCCCTGGTCAACAAGCCTGGTCAGCCAGGGGTGGGGCCTGGGCAACCACGGTCTCTCGGGGCTCAGTCACCAACTTCCAGCTTCCTCCCTTAGCCATACATCGAAGAGATTTGTCAAAACTTCCGAGGGGACGTGTTCCAGAAATTCATTGAGAGGTGAGAGCAGGGAAGTGTGGGAGAGGAAGGGGGAGGGAGGGGCCGCTCTCAGAAGGGGTATGGCTGGCGTGGAGGGCAGAAGCCAGCCTTCATTAGGCCCTGAGCAGGCAGGTGGCTGGCCCGTCAGCGGCCCCCTTGCAAGGACTCCTGAGAAGTCAGACAGGCTGCAGGTCATCTCCCACCCTGCCCTCCTCAGCACCAGGCAGCTCAAAGCCCATCCCAGGCAGTCTCCTAGCTCCAGGGAGCTAGGAGAGCTGTGCCACCTGTGCCTCTTTCTCTCCCGTGGGCTGTATAGCACCTTGCTGGCCCACCTGGACTGAGAAGCATCAGAGTCCTGGTAGGGGTAGGCCCAGTAGAGCGCATGGCCCCCGTGACCCTCACAGCCAGAGTTGGCGCGGTGGGTGGGAATTGTAGGTAGATTTCAGCCAGCTTTAGGGAGCAGCTGTTTTAGGGTCACTGCTGCCCAGCCATGGAGTGAGCTCTGTGTCACTGGGGGTATGCAAGCAGGGACAGGAGACGTACTTGTCAAGGATATGGTAGCAGGAAGTCTGGGTTAGACTGGAAGACCTCCTTTCTGTGCGGATCTGATTCCAGCAGGAAGCCACGGCCAGGTGGCCGAGGGCCATGCTGGGCACCCAAGCAGCCCTGACTGGTGCTGTGGGCGGGCAGGCCCTCAACATATCCTTCCTGGAAGAGGACATTAACGCTCGTGATGTTTCCACACCTACCCTCACGGGACCCCAGGGAGTGGCGGCTGGGTGGGGAGGCTCACGACAGCATCATCCTTCCCACATTCTGAGTGGCCCCTGAGCCCTGATTCTTCTTTTCCAGCGATAAGTTCACACGGTTTTGCCAGTGGAAGAATGTGGAGCTCAACATCCACGTGAGTGGGCTTGGGTGGGGCATGGAAAGCCACGCACCCTGCTGCTCCTCTCCCGGGAGCTGGGCCTGTGGCTTGGCTGGGAGGGGGAGGTCAGGGGATGTCTGTCCTTTAGCCCCCAGGGCCGTGGCTATGGGGGTCAGGGCCGGGATCCCAGCATGGGGAGGCCGGAGCAGGTAAATATGTGGCAAGGATGGCCAGGACATGGGTATGGGGACCCTGGCATGGGGCCAGCCCCTGCTGCCCAGGTGCCTCTGCCCCAGGGCTGGGCAGAGGCAGCCTGTGGTGACCGCAGCTGTCGCTGCCCCTCAGCTGACCATGAATGACTTCAGCGTGCATCGCATCATTGGGCGCGGGGGCTTTGGCGAGGTCTATGGGTGCCGGAAGGCTGACACAGGCAAGATGTGAGCACCCTGCTCGGCGCGGTGGGATACCTCGGGGAGCCGGGCTCCTGGGGGACCCTGACAGGCCGGGTTCCACACAGGGCCACCTGCTGCTCCATGCACTCCTGTCTTGCCGTGCTGTTACCCCCGCAGGCTCCTCTGGCCCCAGCCCTCCCTGTCTCTGATTTGTGTCACACGCTGGTCCTGGGTCTAGTCTTTCCCTCAAGCGCCCCCTGAGGCAGCCCTGGGCCCCTGCTCTGAGGGTGGGTGTTGACTGCCGACCTCTGCCCCGTAGGTACGCCATGAAGTGCCTGGACAAAAAGCGCATCAAGATGAAGCAGGGGGAGACCCTGGCCCTGAACGAGCGCATCATGCTCTCGCTCGTCAGCACTGGGGTGAGCTGGGTGGGCCGGGCTGCCGCTGAGGCTCTGGAACCCCGGGCGCCCCTGCTAACTGCCCGCCCCCTCCCCTCCTCTCCCCTCCTAGGACTGCCCATTCATTGTCTGCATGTCATACGCGTTCCACACGCCAGACAAGCTCAGCTTCATCCTGGACCTCATGAACGGTGAGTGCTGGCCGGGCCCTAGGGTGGGCCGGGCCCAGGCACGGGAGGCTGGGGCAAGACACTGAGTGCTGCCTGTGGGACTGCCTCCCTCAGGTGGGGACCTGCACTACCACCTCTCCCAGCACGGGGTCTTCTCAGAGGCTGACATGCGCTTCTATGCGGCCGAGATCATCCTGGGCCTGGAG
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Task1_train_16137
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Here is a mutation in CLCF1, LOC100130987 (cardiotrophin like cytokine factor 1| uncharacterized LOC100130987) on Chromosome 11. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Cold-induced sweating syndrome 2
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GAAGCACAGATGAATAGCTTTGCTCATCATAAGGAGGCTGGGCCAGAGGGCAGAAATAGAAATTCAAGGTGGGAAGACAGACCTGTGAGACCATTAATGCAATCCAGGAAGGTGAGGCTGGCCAGGCGAGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTAGGTGGATCACCTGAGGTCAGGGGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAGCCAGGCATGGTGGTGCACCCCTGTAATCCCAGCTACTCGAGAGGCTGAAGCATGAGAATCATTTGAACCCAGGAAGCAGAGATTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGATAACAGAGTAAGACTCTCTCAAAGAAAAACCAAGGCCGGGCACAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGACCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCAGACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCTGGAGGCGGGGCTTGCAGTGAGCCGAGATCGCGTCACTGCACTCCAGCCTGGGCGACAGGGCGAGACTCTGTCTCAAAAAAAAAAAAAAAGAAAGAAAACCGAATCCCAGAAAGGTGAGGAAGACTTAGCAAAGGTGGGGTGAGGGAAACCTGGGGTGGACAGAAGCTGTGTGGGAGGACTGAGGGATCAAGGGGTTGGTGGTGGCAGCAGCAGTGGGTAAGTCTGAGGTGCGCCCATCGCCCCAGTGCGGGGAGGAAGAGGGCCTCTTCCCAGAGCTCTGTGCAGCTCCACCAGAGGCAAGCAGGGAGTGGGAGCCAGGGGTGGCAAGAGTCTGATGAGCACCAGGAGGGGTGAGGCTGGGCAAAGAGACTAAGTTCTGGGGCAAGCATTTTATTTGTTAATACAAGAATAGAAATTCTGCAATAAATATCATCTAATAAATAACATCTCCAAATAAATAAATATTAATACAACACACTTAGAGTCATGAGTGGGTGGGGCTGGGGGGCAGGGCCTTGGGGAGCTGCCACCCTACACCCCAAAATGCTACTGCATTGTAAACTTTCAGGAAATCCTGTGGTGTGGCTATGGTTGCCCTCCCCAGCCTGGCAACCCACAGATACCCTGGGAAAGGGGGCAGAGAAGAGGCACCGTAATACTGGAAGACAATTCGAGGCAAGGTCCTGATGCTCAGCTCGGGTTTTGTTTGCCACTCTGTGCTTTGGAGACTCCTGGGTCTGGTCTGGTCTGTCCCTGCCCCTGTGCTTTCAGTATTTTCTCTTCTGGTTTATAGGGCACCTCCAATGCAGACCCCAACCCTGCACTGTTAATCTCATCTCTTTTTGTGTAGAATTGCCACCATGTTTGTTTCCTGAATTGGATGTATAGAGTGATTTGGGGATAAGGGAGCAACACCCATCCAAGGAGAGTGGGGCAGCCAAAGGGCTTCACCCCAGAAAGGCATGTGTGGTGGTGGCCCCTCAACCCCTGCCCTCCAGATGTGCCACCTGAGGGGCTGGGTGGGCACTGGCCAAGTGGTAGGCAAGAAGCAGGAGGCCATGAGCGCCTCTGCACCAACCTGAACCACTTCACACTCCCTCGAGCATGACTTCCTGTAGAAACAGGACAGGACAGGGCCTACTGTACCTCCTCCCCAGCTCGGTAGACCTTTGGGAGGTGGGGAGGAGACAGGGCTGATCGCATCACACGCCCAGCCGGTCCAGGAAAGGGCCAGAGGCTCACAGCTTCTGTCTCCTGGCTCAACAGGTGTTGGCATACAGGGCTGGCTCTCACAAAGTGGGAGCAGGGTTTGAAGGGGGAGCGAAGAGGAGAAGGTCAGAAGTCAGAAGCCATGAGCCCCCAGGTGCAGGGTGACTGCAGCTGCTGGAGGCTGCATCTTCTTCTTGAGCCGGTTGAAGTCCTTGGCCGAGCGCCACAGCCAGGTCTGCAGCTCCTTCAGCAGCCAGAAGTCGTCCATCTTCTGGAGGAAGTCACTGTGGGCAGGGCCAGGAGTCCAAGTGGGTTCAGTCCCAGGCAGCGGCTGGGGCAGTGGGTAGCCCAGAGCTGCCATGACGCCCGCAATGCTGCCCAGCAGGCCCTGGAGGCTGGTGCAGAAGTGGGCCAGGCTGCGGCGCAGCTCAGCAGTGGCAGCCTGACGGTTGAGGCCACGCAAGTAACACAGAAGGTGGCTGTAGGCCTCGTAGTTCTGGGTCAGCCGCAGTTTGTCATTGAGGCTTCGCCACACCTCCAAGTCAACAGTGGCCCTGGGCAGAGTCTCTGCCCCCAGGCGGGGAGGGTTGAAGTCTGGCTCGTTGAAAGGGGGGCCCAGGTAGTTCAGCTGTGAAAAGGAGAGGGTGATGGGGAAGGAGGAGGGCAGAGCCGCTGGCTCACCACCAAGGAGATACCTGCTCCCAAAGTTTCTATTTTTTGTGTCCCCTGACACTGGCCCTGTCTCCATGCTAGGCTTCTTTGTTCATGGCCTCCCTGAGTTTTTCCAATAAGGATATCATTTGTATGCAGGTGACAGTTGAAGCAGTGGCGGTGGTGAGCTCTCCAATGGAGAGGCGTAGAAAAAGGAGGAGGAGGAGACGCACAAGACGCTCAGGAAGGACGTGCTGATTGGCTGGGTGGGCAAACCTTGGGAGAGTGCCCGCTGTGGGGGCAGGACAGAGAGGAAGAGGAGCCTGGAGGAGCTGGAGAGGTAGAAGGTGGCCCAGGAGAGTGCAGAGACCAAGGAAGAGGAGTTCGAGAAGGCAGCAGCGCTCAGCAGTGTGGCTGCAAAACAGACAGCAAGGAGAATGAGCCTTCAAAACACTGTCGGGCTTGGCAAGGAGGTGCCTGACGACCTTGGAGAGAACCATTGCTGGGGCCTGGAAGCCAGATTGCAGGGGGTTAAGAAGTGAGTGGGTGGAGAGGAAGTGGAGGCAGAGGGTGTAGACCACTCCTTGGAGAAATTTGGCAGGGAAAGCCAGGAGAGAAAAAGGGTCGGGAACTAGAGAGGGCAGTGGAGTGAAGCAAAGGTTTTCTGCACAAGGAACAAGAGAGAGATGAGAGTGGCCCATTGGAACCAGAGCCCCATTTGCCGCTGACACACCCAGGCCCACCAGCTGAGGGGCTGGGGAGAGACGGGTACTCACTAACACTCCGAAAGAAGGGTTCAGCTGATAGGAGCAGGGTTGCAGAAGGAAGAAATGGAGGCAGTCTCATGAGTAGGACAGGAGGAAGGCTATGGAAGACAGCATGGTATAGGGAAGAGGGCAGAGCCCTTTCCAACCCTCGGGGGAGCGGCTGGGGCCCAGGGAAAGGGATGAGGGAGATGTATAACTGGGAAAGAAGGGAGAAGCAAGGGGAGAGGCCTGGGATAGGCAAGGGCCCAGGGGGAGGTTCACACGCTGACAAGCACAGAGACAAACTAATTTCCTCGGTGTATCCTGGGGCTGGAGCCAGCTCCCCCGCCACCCTCCTCCCTTTTCTTTCCCTGGCTCCAGAGTAGGGTCTGGGATGTGGAAGAGGAACACGGGAAGAGGGGGCCGGTTCCCCATGGTCCTCGGCTCCTCCAACCCTCCTTCCTTCTCTCCTGGGCTCTCTGAACACCTCTGGACCACCCCCAAATCCTTACAGCATAACCTCCATCCACACCCTAAACCCCCTGCCACTACTGCCTGGGTTCCCTACAGTCCCCTTCCCCCATGACCCCCCTAGGAGGCCCAGCTAGGATGGGAGAGGCAGACGGAAGGGAGGCCCCTGGGTCCAGAGCAGCAGGGCCCCAGGTCTGGGGGCAGAGGCGAGCTGGAACGCAGGCATGGGAGGTGGGGCCCCTCTGTCCCCACCCAACCCCGCCCGCGCAAGAGACACCACAACACGGTGTAAACAGAGGAGACTTCCCCGGCCCCCAGGGGGAGGCGGGCGGCTGGGCTGGCAGCCAGTGGGGCAATGGGCCAAGGCGGGTGCGAGGCCTGCCCACATGCCTAGTCCTGGG
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GAAGCACAGATGAATAGCTTTGCTCATCATAAGGAGGCTGGGCCAGAGGGCAGAAATAGAAATTCAAGGTGGGAAGACAGACCTGTGAGACCATTAATGCAATCCAGGAAGGTGAGGCTGGCCAGGCGAGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTAGGTGGATCACCTGAGGTCAGGGGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAGCCAGGCATGGTGGTGCACCCCTGTAATCCCAGCTACTCGAGAGGCTGAAGCATGAGAATCATTTGAACCCAGGAAGCAGAGATTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGATAACAGAGTAAGACTCTCTCAAAGAAAAACCAAGGCCGGGCACAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGACCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCAGACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCTGGAGGCGGGGCTTGCAGTGAGCCGAGATCGCGTCACTGCACTCCAGCCTGGGCGACAGGGCGAGACTCTGTCTCAAAAAAAAAAAAAAAGAAAGAAAACCGAATCCCAGAAAGGTGAGGAAGACTTAGCAAAGGTGGGGTGAGGGAAACCTGGGGTGGACAGAAGCTGTGTGGGAGGACTGAGGGATCAAGGGGTTGGTGGTGGCAGCAGCAGTGGGTAAGTCTGAGGTGCGCCCATCGCCCCAGTGCGGGGAGGAAGAGGGCCTCTTCCCAGAGCTCTGTGCAGCTCCACCAGAGGCAAGCAGGGAGTGGGAGCCAGGGGTGGCAAGAGTCTGATGAGCACCAGGAGGGGTGAGGCTGGGCAAAGAGACTAAGTTCTGGGGCAAGCATTTTATTTGTTAATACAAGAATAGAAATTCTGCAATAAATATCATCTAATAAATAACATCTCCAAATAAATAAATATTAATACAACACACTTAGAGTCATGAGTGGGTGGGGCTGGGGGGCAGGGCCTTGGGGAGCTGCCACCCTACACCCCAAAATGCTACTGCATTGTAAACTTTCAGGAAATCCTGTGGTGTGGCTATGGTTGCCCTCCCCAGCCTGGCAACCCACAGATACCCTGGGAAAGGGGGCAGAGAAGAGGCACCGTAATACTGGAAGACAATTCGAGGCAAGGTCCTGATGCTCAGCTCGGGTTTTGTTTGCCACTCTGTGCTTTGGAGACTCCTGGGTCTGGTCTGGTCTGTCCCTGCCCCTGTGCTTTCAGTATTTTCTCTTCTGGTTTATAGGGCACCTCCAATGCAGACCCCAACCCTGCACTGTTAATCTCATCTCTTTTTGTGTAGAATTGCCACCATGTTTGTTTCCTGAATTGGATGTATAGAGTGATTTGGGGATAAGGGAGCAACACCCATCCAAGGAGAGTGGGGCAGCCAAAGGGCTTCACCCCAGAAAGGCATGTGTGGTGGTGGCCCCTCAACCCCTGCCCTCCAGATGTGCCACCTGAGGGGCTGGGTGGGCACTGGCCAAGTGGTAGGCAAGAAGCAGGAGGCCATGAGCGCCTCTGCACCAACCTGAACCACTTCACACTCCCTCGAGCATGACTTCCTGTAGAAACAGGACAGGACAGGGCCTACTGTACCTCCTCCCCAGCTCGGTAGACCTTTGGGAGGTGGGGAGGAGACAGGGCTGATCGCATCACACGCCCAGCCGGTCCAGGAAAGGGCCAGAGGCTCACAGCTTCTGTCTCCTGGCTCAACAGGTGTTGGCATACAGGGCTGGCTCTCACAAAGTGGGAGCAGGGTTTGAAGGGGGAGCGAAGAGGAGAAGGTCAGAAGTCAGAAGCCATGAGCCCCCAGGTGCAGGGTGACTGCAGCTGCTGGAGGCTGCATCTTCTTCTTGAGCCGGTTGAAGTCCTTGGCCGAGAGCCACAGCCAGGTCTGCAGCTCCTTCAGCAGCCAGAAGTCGTCCATCTTCTGGAGGAAGTCACTGTGGGCAGGGCCAGGAGTCCAAGTGGGTTCAGTCCCAGGCAGCGGCTGGGGCAGTGGGTAGCCCAGAGCTGCCATGACGCCCGCAATGCTGCCCAGCAGGCCCTGGAGGCTGGTGCAGAAGTGGGCCAGGCTGCGGCGCAGCTCAGCAGTGGCAGCCTGACGGTTGAGGCCACGCAAGTAACACAGAAGGTGGCTGTAGGCCTCGTAGTTCTGGGTCAGCCGCAGTTTGTCATTGAGGCTTCGCCACACCTCCAAGTCAACAGTGGCCCTGGGCAGAGTCTCTGCCCCCAGGCGGGGAGGGTTGAAGTCTGGCTCGTTGAAAGGGGGGCCCAGGTAGTTCAGCTGTGAAAAGGAGAGGGTGATGGGGAAGGAGGAGGGCAGAGCCGCTGGCTCACCACCAAGGAGATACCTGCTCCCAAAGTTTCTATTTTTTGTGTCCCCTGACACTGGCCCTGTCTCCATGCTAGGCTTCTTTGTTCATGGCCTCCCTGAGTTTTTCCAATAAGGATATCATTTGTATGCAGGTGACAGTTGAAGCAGTGGCGGTGGTGAGCTCTCCAATGGAGAGGCGTAGAAAAAGGAGGAGGAGGAGACGCACAAGACGCTCAGGAAGGACGTGCTGATTGGCTGGGTGGGCAAACCTTGGGAGAGTGCCCGCTGTGGGGGCAGGACAGAGAGGAAGAGGAGCCTGGAGGAGCTGGAGAGGTAGAAGGTGGCCCAGGAGAGTGCAGAGACCAAGGAAGAGGAGTTCGAGAAGGCAGCAGCGCTCAGCAGTGTGGCTGCAAAACAGACAGCAAGGAGAATGAGCCTTCAAAACACTGTCGGGCTTGGCAAGGAGGTGCCTGACGACCTTGGAGAGAACCATTGCTGGGGCCTGGAAGCCAGATTGCAGGGGGTTAAGAAGTGAGTGGGTGGAGAGGAAGTGGAGGCAGAGGGTGTAGACCACTCCTTGGAGAAATTTGGCAGGGAAAGCCAGGAGAGAAAAAGGGTCGGGAACTAGAGAGGGCAGTGGAGTGAAGCAAAGGTTTTCTGCACAAGGAACAAGAGAGAGATGAGAGTGGCCCATTGGAACCAGAGCCCCATTTGCCGCTGACACACCCAGGCCCACCAGCTGAGGGGCTGGGGAGAGACGGGTACTCACTAACACTCCGAAAGAAGGGTTCAGCTGATAGGAGCAGGGTTGCAGAAGGAAGAAATGGAGGCAGTCTCATGAGTAGGACAGGAGGAAGGCTATGGAAGACAGCATGGTATAGGGAAGAGGGCAGAGCCCTTTCCAACCCTCGGGGGAGCGGCTGGGGCCCAGGGAAAGGGATGAGGGAGATGTATAACTGGGAAAGAAGGGAGAAGCAAGGGGAGAGGCCTGGGATAGGCAAGGGCCCAGGGGGAGGTTCACACGCTGACAAGCACAGAGACAAACTAATTTCCTCGGTGTATCCTGGGGCTGGAGCCAGCTCCCCCGCCACCCTCCTCCCTTTTCTTTCCCTGGCTCCAGAGTAGGGTCTGGGATGTGGAAGAGGAACACGGGAAGAGGGGGCCGGTTCCCCATGGTCCTCGGCTCCTCCAACCCTCCTTCCTTCTCTCCTGGGCTCTCTGAACACCTCTGGACCACCCCCAAATCCTTACAGCATAACCTCCATCCACACCCTAAACCCCCTGCCACTACTGCCTGGGTTCCCTACAGTCCCCTTCCCCCATGACCCCCCTAGGAGGCCCAGCTAGGATGGGAGAGGCAGACGGAAGGGAGGCCCCTGGGTCCAGAGCAGCAGGGCCCCAGGTCTGGGGGCAGAGGCGAGCTGGAACGCAGGCATGGGAGGTGGGGCCCCTCTGTCCCCACCCAACCCCGCCCGCGCAAGAGACACCACAACACGGTGTAAACAGAGGAGACTTCCCCGGCCCCCAGGGGGAGGCGGGCGGCTGGGCTGGCAGCCAGTGGGGCAATGGGCCAAGGCGGGTGCGAGGCCTGCCCACATGCCTAGTCCTGGG
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Task1_train_16138
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A variant found in Chromosome 11 affects LOC100130987, CLCF1 (uncharacterized LOC100130987| cardiotrophin like cytokine factor 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Cold-induced sweating syndrome 2
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CAGTGGCCCTGGGCAGAGTCTCTGCCCCCAGGCGGGGAGGGTTGAAGTCTGGCTCGTTGAAAGGGGGGCCCAGGTAGTTCAGCTGTGAAAAGGAGAGGGTGATGGGGAAGGAGGAGGGCAGAGCCGCTGGCTCACCACCAAGGAGATACCTGCTCCCAAAGTTTCTATTTTTTGTGTCCCCTGACACTGGCCCTGTCTCCATGCTAGGCTTCTTTGTTCATGGCCTCCCTGAGTTTTTCCAATAAGGATATCATTTGTATGCAGGTGACAGTTGAAGCAGTGGCGGTGGTGAGCTCTCCAATGGAGAGGCGTAGAAAAAGGAGGAGGAGGAGACGCACAAGACGCTCAGGAAGGACGTGCTGATTGGCTGGGTGGGCAAACCTTGGGAGAGTGCCCGCTGTGGGGGCAGGACAGAGAGGAAGAGGAGCCTGGAGGAGCTGGAGAGGTAGAAGGTGGCCCAGGAGAGTGCAGAGACCAAGGAAGAGGAGTTCGAGAAGGCAGCAGCGCTCAGCAGTGTGGCTGCAAAACAGACAGCAAGGAGAATGAGCCTTCAAAACACTGTCGGGCTTGGCAAGGAGGTGCCTGACGACCTTGGAGAGAACCATTGCTGGGGCCTGGAAGCCAGATTGCAGGGGGTTAAGAAGTGAGTGGGTGGAGAGGAAGTGGAGGCAGAGGGTGTAGACCACTCCTTGGAGAAATTTGGCAGGGAAAGCCAGGAGAGAAAAAGGGTCGGGAACTAGAGAGGGCAGTGGAGTGAAGCAAAGGTTTTCTGCACAAGGAACAAGAGAGAGATGAGAGTGGCCCATTGGAACCAGAGCCCCATTTGCCGCTGACACACCCAGGCCCACCAGCTGAGGGGCTGGGGAGAGACGGGTACTCACTAACACTCCGAAAGAAGGGTTCAGCTGATAGGAGCAGGGTTGCAGAAGGAAGAAATGGAGGCAGTCTCATGAGTAGGACAGGAGGAAGGCTATGGAAGACAGCATGGTATAGGGAAGAGGGCAGAGCCCTTTCCAACCCTCGGGGGAGCGGCTGGGGCCCAGGGAAAGGGATGAGGGAGATGTATAACTGGGAAAGAAGGGAGAAGCAAGGGGAGAGGCCTGGGATAGGCAAGGGCCCAGGGGGAGGTTCACACGCTGACAAGCACAGAGACAAACTAATTTCCTCGGTGTATCCTGGGGCTGGAGCCAGCTCCCCCGCCACCCTCCTCCCTTTTCTTTCCCTGGCTCCAGAGTAGGGTCTGGGATGTGGAAGAGGAACACGGGAAGAGGGGGCCGGTTCCCCATGGTCCTCGGCTCCTCCAACCCTCCTTCCTTCTCTCCTGGGCTCTCTGAACACCTCTGGACCACCCCCAAATCCTTACAGCATAACCTCCATCCACACCCTAAACCCCCTGCCACTACTGCCTGGGTTCCCTACAGTCCCCTTCCCCCATGACCCCCCTAGGAGGCCCAGCTAGGATGGGAGAGGCAGACGGAAGGGAGGCCCCTGGGTCCAGAGCAGCAGGGCCCCAGGTCTGGGGGCAGAGGCGAGCTGGAACGCAGGCATGGGAGGTGGGGCCCCTCTGTCCCCACCCAACCCCGCCCGCGCAAGAGACACCACAACACGGTGTAAACAGAGGAGACTTCCCCGGCCCCCAGGGGGAGGCGGGCGGCTGGGCTGGCAGCCAGTGGGGCAATGGGCCAAGGCGGGTGCGAGGCCTGCCCACATGCCTAGTCCTGGGGCCAGGGATGGGGAAGTGGGGGGGCCACCTAAGAGGGAAGGGCAGGAGATAGACCAGACAGGGGGACTGGTGGGAGCCAAAGAGCCCCTCCTCACCCCATCATTTACCAGAACCCTCCACGGTTAGGACTGTCTTTCCCCAACTCCTCACTCCTCCCCAACTCCCAGATTCCTACGCTGGATACTCACATAGGTCCCAGCCAAGCTGCGGAGTTGGTGCTCCAGGTAGCGGGTGAGGTCATAGGTTTTCTGGATGGAGGGGCCAGGCCCTGGGTCCCCTGTGCGATTGAGAGCTGGCACTGCAGGGAGGTGCCAGAGCACCGTGCACAGGCACGCTAACATCCCCCACGAGTCCCCTGTGGGCAGGATGGACGAGAAGCATGAGCGCGGCCCGGGCCCACACGGGGAAGCAGCTGGCAGCCCCTCAGGTGTCTGTCCCCACCTTGGGCTGGGTGGGGGGTGAGGGTGGGACACCAGATGGGAGGCAGAGGGGATGGAGGAGGGGAAACACTCCTGGCAAGACGGGAGAGAAAGAGAGGCATGTGTATGTTTGAGGATGAGGACTTGGCACGCATGAGTGTCTATCAGTAGATACTTGAGAATGGATCTGTGTGTCAGCTGAGAGAGTCTTTGGCATGTGTGCCACTGTGTGTGTGCCAACATGTATATGTGTGTACATGGAGGGACGGGGCCAGGCCTAGGGACTGCAGGTCGACCTGCCTGTGTTCCAGTTGTACCCTAGCTTCCTGCCAGTCTTCAGTCCCACTGCAGCTTGAGGGGAGTCAGAGGGTGGGAGACAGCACATGTCAGAGCTGGCAGGCTGAGCACAGTCAGCCCTAAGGGAGGAAGCAGGAGAGAGGCGGCCGCCAAGAACAGACTCACCCATAGGAAGCAAGGTATAGGGTTAGACCACTAGGGTCGGGCTGCCTTATGGGGCTTAGTTTTGGGTATATTCTAGGATGTGATTCCTGAGTGTGGGAAGTGTAGGGTGGGGTTAGATTGAAGGAGATTTAGTGCTCACTCTCAGGGAACGGTGGCAGTGTGGAGGTTCACCCCGTTCTTGGTGTTAGGTGGGGAAAAGTTGGACTTCAATGAGGCCTTTCCATCAGCCTGCAAGGGTGGGGACAGGAAGGGAGAGAGGTGCATTTGACGAGTCGGGCTTGTTGGCTGATGGCACTGCAGAGTTTGGACATCCCAGGATACCAGGAGTCCAGAGGCCAGGGTTGGGTGCTGTAAGGAGGGATGTGGGCAGTGGGGAAATATGCTTTTCTGGGATTTTAAGTGAGGACCAAGGTGAGGATTCAGTGGACACTTTGGACTGGCAAAGGCAGTTAGGGTTTGGCTAGGGTAGATATAATTGGCATTGGGCTAGGTTAGGTTTAAGGACTGGGTTACTTTAAAAGTTTCAGATTAGTTTAGACTTGGGATTTGGTTGATTTAGTGCGGTTGAGGTTTGAGTCCAGCAAGGATGTGGTGAGGTCTGGGCAGGCAGAGGGTGAGTTGGAGGGCTGTGACTTGGTCGGTTTAGGTATCAGATGGGGCGCTGCTTGTCATGTTATGAAGAGCAGGGCTAGTTTGGGTTTTCAGCTTGAATAGGTGTGAGGTCATGAGTGGTTTCTTTCCTATAGTTCTTTTTTTTTCCTTTTTTTTTTTTTTTTTTGCTGCCACCTTCTCTTTCCACCACCCCTATAGTTCATATTTTATACTCTCAGATTTTTCTATAATGACATAGGTTGCTTTGATAGGCAGAAATAACTTAGATAGGTATAACGCTTTGCCCATGGTTAGGATGGGATTTGGATTCAAGAAAGAATGAAGACTAGGTTAGGTCTAATCACAGTGCTGGGGCAGTTTTGGAGAGGGCTAATAACTAGGAAGGATGCAAGACTCCATTTGTATAAAACATCTCTTATGGAGGACAGGGGTCAGTGAGGACTTCGGCAGTGGCCCACCTGGTCAGTCTGGACTCTTTCAGATGTGTGACTGGCCGGCTTTACTAAGGGAGCGTGGCGGTGGGGTACCACAAGTCACAGGGTCTTGGTTTGAGGCAAGTGTGAGTGTGTGTACACGCGTGTGTTTTAGGACAGAGAGTAGGGTCAGGCACTCAACTGCTCCCTGGGGAGACCAGCTCACCCTTTCCTGTCCCCTCTGAGCTTGTGGCTTCCTCCTGGACGCTGCTTTCCTCACTCTTCCTTTCTATCCCCAGCTCTTGCCTGACTCAGTTCCTTTCTCCTCCCTGCTCCTCACATCTCAACACAACTCCAAGCCTAGGGATCTGGCAGTCACCTCTAGGATCCTATGGGTACAGAGTAGCATTAGTTTTGGAGATTGGAGACCTGCTGAATTGGGCAGCGGCCCTCCCAGCCTTGAGGTC
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CAGTGGCCCTGGGCAGAGTCTCTGCCCCCAGGCGGGGAGGGTTGAAGTCTGGCTCGTTGAAAGGGGGGCCCAGGTAGTTCAGCTGTGAAAAGGAGAGGGTGATGGGGAAGGAGGAGGGCAGAGCCGCTGGCTCACCACCAAGGAGATACCTGCTCCCAAAGTTTCTATTTTTTGTGTCCCCTGACACTGGCCCTGTCTCCATGCTAGGCTTCTTTGTTCATGGCCTCCCTGAGTTTTTCCAATAAGGATATCATTTGTATGCAGGTGACAGTTGAAGCAGTGGCGGTGGTGAGCTCTCCAATGGAGAGGCGTAGAAAAAGGAGGAGGAGGAGACGCACAAGACGCTCAGGAAGGACGTGCTGATTGGCTGGGTGGGCAAACCTTGGGAGAGTGCCCGCTGTGGGGGCAGGACAGAGAGGAAGAGGAGCCTGGAGGAGCTGGAGAGGTAGAAGGTGGCCCAGGAGAGTGCAGAGACCAAGGAAGAGGAGTTCGAGAAGGCAGCAGCGCTCAGCAGTGTGGCTGCAAAACAGACAGCAAGGAGAATGAGCCTTCAAAACACTGTCGGGCTTGGCAAGGAGGTGCCTGACGACCTTGGAGAGAACCATTGCTGGGGCCTGGAAGCCAGATTGCAGGGGGTTAAGAAGTGAGTGGGTGGAGAGGAAGTGGAGGCAGAGGGTGTAGACCACTCCTTGGAGAAATTTGGCAGGGAAAGCCAGGAGAGAAAAAGGGTCGGGAACTAGAGAGGGCAGTGGAGTGAAGCAAAGGTTTTCTGCACAAGGAACAAGAGAGAGATGAGAGTGGCCCATTGGAACCAGAGCCCCATTTGCCGCTGACACACCCAGGCCCACCAGCTGAGGGGCTGGGGAGAGACGGGTACTCACTAACACTCCGAAAGAAGGGTTCAGCTGATAGGAGCAGGGTTGCAGAAGGAAGAAATGGAGGCAGTCTCATGAGTAGGACAGGAGGAAGGCTATGGAAGACAGCATGGTATAGGGAAGAGGGCAGAGCCCTTTCCAACCCTCGGGGGAGCGGCTGGGGCCCAGGGAAAGGGATGAGGGAGATGTATAACTGGGAAAGAAGGGAGAAGCAAGGGGAGAGGCCTGGGATAGGCAAGGGCCCAGGGGGAGGTTCACACGCTGACAAGCACAGAGACAAACTAATTTCCTCGGTGTATCCTGGGGCTGGAGCCAGCTCCCCCGCCACCCTCCTCCCTTTTCTTTCCCTGGCTCCAGAGTAGGGTCTGGGATGTGGAAGAGGAACACGGGAAGAGGGGGCCGGTTCCCCATGGTCCTCGGCTCCTCCAACCCTCCTTCCTTCTCTCCTGGGCTCTCTGAACACCTCTGGACCACCCCCAAATCCTTACAGCATAACCTCCATCCACACCCTAAACCCCCTGCCACTACTGCCTGGGTTCCCTACAGTCCCCTTCCCCCATGACCCCCCTAGGAGGCCCAGCTAGGATGGGAGAGGCAGACGGAAGGGAGGCCCCTGGGTCCAGAGCAGCAGGGCCCCAGGTCTGGGGGCAGAGGCGAGCTGGAACGCAGGCATGGGAGGTGGGGCCCCTCTGTCCCCACCCAACCCCGCCCGCGCAAGAGACACCACAACACGGTGTAAACAGAGGAGACTTCCCCGGCCCCCAGGGGGAGGCGGGCGGCTGGGCTGGCAGCCAGTGGGGCAATGGGCCAAGGCGGGTGCGAGGCCTGCCCACATGCCTAGTCCTGGGGCCAGGGATGGGGAAGTGGGGGGGCCACCTAAGAGGGAAGGGCAGGAGATAGACCAGACAGGGGGACTGGTGGGAGCCAAAGAGCCCCTCCTCACCCCATCATTTACCAGAACCCTCCACGGTTAGGACTGTCTTTCCCCAACTCCTCACTCCTCCCCAACTCCCAGATTCCTACGCTGGATACTCACATAGGTCCCAGCCAAGCTGCGGAGTTGGTGCTCCAGGTAGCGGGTGAGGTCATAGGTTTTCTGGATGGAGGGGCCAGGCCCTGGGTCCCCTGTGCGATTGAGAGCTGGCACTGCAGGGAGGTGCCAGAGCACCGTGCGCAGGCACGCTAACATCCCCCACGAGTCCCCTGTGGGCAGGATGGACGAGAAGCATGAGCGCGGCCCGGGCCCACACGGGGAAGCAGCTGGCAGCCCCTCAGGTGTCTGTCCCCACCTTGGGCTGGGTGGGGGGTGAGGGTGGGACACCAGATGGGAGGCAGAGGGGATGGAGGAGGGGAAACACTCCTGGCAAGACGGGAGAGAAAGAGAGGCATGTGTATGTTTGAGGATGAGGACTTGGCACGCATGAGTGTCTATCAGTAGATACTTGAGAATGGATCTGTGTGTCAGCTGAGAGAGTCTTTGGCATGTGTGCCACTGTGTGTGTGCCAACATGTATATGTGTGTACATGGAGGGACGGGGCCAGGCCTAGGGACTGCAGGTCGACCTGCCTGTGTTCCAGTTGTACCCTAGCTTCCTGCCAGTCTTCAGTCCCACTGCAGCTTGAGGGGAGTCAGAGGGTGGGAGACAGCACATGTCAGAGCTGGCAGGCTGAGCACAGTCAGCCCTAAGGGAGGAAGCAGGAGAGAGGCGGCCGCCAAGAACAGACTCACCCATAGGAAGCAAGGTATAGGGTTAGACCACTAGGGTCGGGCTGCCTTATGGGGCTTAGTTTTGGGTATATTCTAGGATGTGATTCCTGAGTGTGGGAAGTGTAGGGTGGGGTTAGATTGAAGGAGATTTAGTGCTCACTCTCAGGGAACGGTGGCAGTGTGGAGGTTCACCCCGTTCTTGGTGTTAGGTGGGGAAAAGTTGGACTTCAATGAGGCCTTTCCATCAGCCTGCAAGGGTGGGGACAGGAAGGGAGAGAGGTGCATTTGACGAGTCGGGCTTGTTGGCTGATGGCACTGCAGAGTTTGGACATCCCAGGATACCAGGAGTCCAGAGGCCAGGGTTGGGTGCTGTAAGGAGGGATGTGGGCAGTGGGGAAATATGCTTTTCTGGGATTTTAAGTGAGGACCAAGGTGAGGATTCAGTGGACACTTTGGACTGGCAAAGGCAGTTAGGGTTTGGCTAGGGTAGATATAATTGGCATTGGGCTAGGTTAGGTTTAAGGACTGGGTTACTTTAAAAGTTTCAGATTAGTTTAGACTTGGGATTTGGTTGATTTAGTGCGGTTGAGGTTTGAGTCCAGCAAGGATGTGGTGAGGTCTGGGCAGGCAGAGGGTGAGTTGGAGGGCTGTGACTTGGTCGGTTTAGGTATCAGATGGGGCGCTGCTTGTCATGTTATGAAGAGCAGGGCTAGTTTGGGTTTTCAGCTTGAATAGGTGTGAGGTCATGAGTGGTTTCTTTCCTATAGTTCTTTTTTTTTCCTTTTTTTTTTTTTTTTTTGCTGCCACCTTCTCTTTCCACCACCCCTATAGTTCATATTTTATACTCTCAGATTTTTCTATAATGACATAGGTTGCTTTGATAGGCAGAAATAACTTAGATAGGTATAACGCTTTGCCCATGGTTAGGATGGGATTTGGATTCAAGAAAGAATGAAGACTAGGTTAGGTCTAATCACAGTGCTGGGGCAGTTTTGGAGAGGGCTAATAACTAGGAAGGATGCAAGACTCCATTTGTATAAAACATCTCTTATGGAGGACAGGGGTCAGTGAGGACTTCGGCAGTGGCCCACCTGGTCAGTCTGGACTCTTTCAGATGTGTGACTGGCCGGCTTTACTAAGGGAGCGTGGCGGTGGGGTACCACAAGTCACAGGGTCTTGGTTTGAGGCAAGTGTGAGTGTGTGTACACGCGTGTGTTTTAGGACAGAGAGTAGGGTCAGGCACTCAACTGCTCCCTGGGGAGACCAGCTCACCCTTTCCTGTCCCCTCTGAGCTTGTGGCTTCCTCCTGGACGCTGCTTTCCTCACTCTTCCTTTCTATCCCCAGCTCTTGCCTGACTCAGTTCCTTTCTCCTCCCTGCTCCTCACATCTCAACACAACTCCAAGCCTAGGGATCTGGCAGTCACCTCTAGGATCCTATGGGTACAGAGTAGCATTAGTTTTGGAGATTGGAGACCTGCTGAATTGGGCAGCGGCCCTCCCAGCCTTGAGGTC
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Task1_train_16139
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A variant was discovered in gene CABP4 (calcium binding protein 4), Chromosome 11. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; not provided
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GGGTGACTGCATGCGGACCCTGGGCTACATGCCCACCGAGATGGAGCTCCTGGAGGTCTCGCAGCACATCAAGATGCGCAGTCAGTCAGGGAGCCCGCCCGCCCGGGCAGCCTGCGTAGTTCAGGGGGTCACGAGGGGCTGGCAGGAGGTGGCCCTTGGGAGTCCATCGGGGTGCTAGTGGGAGTGAGGGAGGGTGGCGGTTTCCAGGCAGGGGCACCGGGTTCAAGCTCCTGCCTCTCTGTGTGGGAAGGCAGGCCAGCAAGGCGGCCCGGAGACCCAGGAGAGCCCCTTGGGGCTCAGGTTGAGGACCCTGGCTCGGGATGTCTGTTGCCATGGCCACTATACACATTTGCTCCTTTCACCCGAGCCCTTCCTGCCTCGCTGGCCCAGAAGCCCCTGACTCAGTGATAAAGTGCTGTCCGCTGATACTAGTCACCTGGCACCTTCTCTCTTTCTCTCTCTTTCTGTGACCCTGCCTCAGCCCTGTGCCCTGGTGGCAGCTGCCTGAATTGGGGTCGCCCTGATGGGAGAGGACCCCACCTATGCCTTGCGACTCAGTGTCTGATGGCAGGAACTGTGTGGTTCCCCTTCGCTGGTTTGTCCTCAGACAAATCTCATATTCACTTCATTCCAGGACTCCTGCATTTTTTCCTTAAAATTCCCAAAATGGGGATGTGATTTACAATTGAGCTGGACATTTGGTGTCATGCTTTTCTGTCCCCAAAGCTGTTGGGTGACCATGAGTGCTTTGAGTGACTGATGGCATCTTAGAACTGAGGCACGGACCACATGGGTGTGTTCGGAGGTGGCATTTATTGCTGCCCACTGGGCTCCAGTACTTCATGGCCATGAACCTGAACCCCATGGAGTAGGCTCCTCACCCTGCTCCTAGGATGAGGAAGGGAGGGCAGTAAGTCAGCCAATGCCACGCACATCAGCAGCAGGGCCAAGATTTGAACCGGGCACTATCTGGCTCCAAAGCCTGGTCTCTTCCTTGCACACTTGGGTTCTCCACTAAGAGCAGAAGCAGCCCTGGTACCCCAGCAGCCAAGGACGGGGGTTCCAGCCTCCTATCTGCTGCAGGCGTGGACACGGGTGTTTCTTCCTAGGTGCAGAGCCTGGGGGTGGGGGTGCCTGGCCTGTGGGATGTCCCTCCTTGGGCTTCAGACCTTATGCCCTCACCATTGTGACACTCTTCCTGGGTCTGCAGTGGGCGGCCGTGTGGACTTTGAGGAGTTTGTAGAACTGATAGGCCCAAAGCTGAGGGAGGAGACGGCGCACATGCTGGGGGTGCGAGAGCTGCGCATCGCCTTCCGAGAGGTGCGGAGTGTGGTGAGGTGGGCAGAGGGGGGCAGGGCTGGGTGGCATCCTTGCTGGCCTCTCACTCAGGTCTCAGCCTTGGGAAGGCCTAGAGCCCTGCAGGCGGTGGGACTGGGGCCCAGGGATGGGTCAGAGATGGTTCAGATCACTACCAGCTAGAGGATCCGTCCAGGGGGACTTCCTGGAGCAGGAGGCAAACCACCTTGGTGTGGGAGGGTGTGGAAGGTGTGCATGGGCAGAGATGGTGGGCAGGGGAGCATCTAGGTACAGGCAGCGGTAAGAGTGGAACTGGCTGGCCAGGCGCGGTGGCTCACGCCTGCAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTCAGGAGTTTGAGGTCAGCCTGGCCAACATGGCAAAACCCCATCTCTATTAAAAATACAAAAATTAGCCAAGGGTTGTGGTGGGCACCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCTGGAGGCGAAGGTTGCAGTGAGCCGAAATTGCGTCACTGCACTCCAGCCTGGTGACAGAGCAAGACTCCATCTCAAAAAATAAAATAAAAATAAATAAAATAAAATAAAATAAAAAATAAAAGAGTGGAGCTGGCTGAGGCTGAGGCAGCTTTGGGTGGGAGGGGCTGAGCTTTGCGGGGACCTTAGTTTGACAGGGACAGGGATGGACGAATTACGGTGGCGGAGCTGCGGGAGGCGGTACCGGCTCTGCTCGGGGAGCCGCTGGCGGGTCCTGAGCTGGACGAGATGCTCCGAGAAGTGGACCTCAATGGGGATGGCACCGTAGACTTTGACGGTGAGTCTCCTTCCCGGAAAACCCTCCCGTGCTTCCAGGGCCTAGGCTGAGCCCAGCACCTCCTGGGATCCCTGACGTGGACTGACCCAAGCCCTGCCCTTCTCTCCCGCAGAGTTTGTGATGATGCTCTCCCGCCACTGAGGCTCCAGGAGGGAATATCTGTTGCCCCTGCGGCCCCAGACACCAGCCAGACCCAGGCTGCAGGCCTCCCCCAGGAGCCTCCAGGATGGAGATGGAGACCCAGCAGCCCCCAGACTACTTCTATCCCTGAAAACACCTGGCCTCAATGTTGGCTTGTTATGTTACCTGCCCACCCTCATCCTTACCTCCTCCTACTCAAGCTGCCTGGAGAAGACCTGCTCTCAGCTGCCCACCGTTCCTCAGTGTGAGCAAGATTTGGGTCTCTCCAGACCTCTGGGAGGTAGGGAGTTCCCTGGCACTGGCAGCATTCAGTGGGGACCCCCCAGTGGCATGATGAATGGAGAGGATGGCTGGACCCCTTCCACTACTTATGTTTATAATTTTTTTTTTTTTTAATGAACTTGAGCCGGGTGCAGTGGCTCACACCTGTAAGCCCAGCTGTCAGGGGGCAGAAGCGGGAGGATAGCTTGAGCCCAGGAGTGCAAGACCTGCCTGGGCAATATACTGAGACCCCATTCTCCACAAAAAGGAAAAATAAAAGACAAAAAAACAAACAAAAAACCAAAAAACCCAAGTGTAAAAAAAGTGAGCTTGAAAGAAAGAAAGGGATGGCTCCATGTATCAAAGACAAAGAAATCAAAGCTGGGGTTGTAAGAGGGAGCTGACGCTGTGGGGGTTTCAGATCTGGATGGAGGCTTGGCCGCCTGGACTCCTACAACCATGAGTGACAGAAGAACCATATGAGTCTGGGGAGCAAGAAACAAACCCCCCGGATATATTCCAGGGTCTCCAAAGGCTAAGATATTAATCTGTCTGCACTGACCAGTCATAGAAAGTGGCAAGGATACAGATGTTCAGGGCCCAGAGTGGAAACAGCTGCCCTAAAGAGCCTGGAACTCCAGGGCCTGCCCTTCAAGCAGGCGTGTAGTCTCTCTCCAGGGTGTGAAAAACTGGAAAAAAACCCTGCCGCTCCCAAAGGGGAACTTGTGATAAAAATTACAGATTATTGGGCTGGGAGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGAATTACCTGAGGTCAGGAGTTTGAGGCCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAACTGGGCGAGGTAGCATGCACCTGTAATCTCAGCTACTCGGAGGTTGAGGCAGGAGAATCGCTTGAGCCCGGGAGGTGGAGCTGCAGTGAGCTGAGATCACACCATTGCACCCCAGCCTGAGCAACAGATCGAGACTCCGTCTCAAAAACAAAACAAAAAAACCATACTGATTATAAAAGTAAAGAAACCACCATGAAGGAGACGAGACAGAGACAAAAACAAGAGGACTGGCATCTCAGTGTACATAATACAGCCGCCTAAGAGACCACAAGATACATGCAAATAAAAGACGGCTAAAAGGGGAAGAGAGATCAACATGCAGTAACAGGATAGTATGAAGAGAGAACCGGAAGATTTAAAAAGTAACCCAACAGGCCAGGCGCATGGCTCATGCCTGGAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGGTTGCTTGAGCTCAGGAATTCGAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGCTTGCATCTGTGGTCCCAGGTATTCTACAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGTCGAGATCGCACCACTGCACTCCAGCGTGGGTAACAGAGTGAGAATCCGT
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GGGTGACTGCATGCGGACCCTGGGCTACATGCCCACCGAGATGGAGCTCCTGGAGGTCTCGCAGCACATCAAGATGCGCAGTCAGTCAGGGAGCCCGCCCGCCCGGGCAGCCTGCGTAGTTCAGGGGGTCACGAGGGGCTGGCAGGAGGTGGCCCTTGGGAGTCCATCGGGGTGCTAGTGGGAGTGAGGGAGGGTGGCGGTTTCCAGGCAGGGGCACCGGGTTCAAGCTCCTGCCTCTCTGTGTGGGAAGGCAGGCCAGCAAGGCGGCCCGGAGACCCAGGAGAGCCCCTTGGGGCTCAGGTTGAGGACCCTGGCTCGGGATGTCTGTTGCCATGGCCACTATACACATTTGCTCCTTTCACCCGAGCCCTTCCTGCCTCGCTGGCCCAGAAGCCCCTGACTCAGTGATAAAGTGCTGTCCGCTGATACTAGTCACCTGGCACCTTCTCTCTTTCTCTCTCTTTCTGTGACCCTGCCTCAGCCCTGTGCCCTGGTGGCAGCTGCCTGAATTGGGGTCGCCCTGATGGGAGAGGACCCCACCTATGCCTTGCGACTCAGTGTCTGATGGCAGGAACTGTGTGGTTCCCCTTCGCTGGTTTGTCCTCAGACAAATCTCATATTCACTTCATTCCAGGACTCCTGCATTTTTTCCTTAAAATTCCCAAAATGGGGATGTGATTTACAATTGAGCTGGACATTTGGTGTCATGCTTTTCTGTCCCCAAAGCTGTTGGGTGACCATGAGTGCTTTGAGTGACTGATGGCATCTTAGAACTGAGGCACGGACCACATGGGTGTGTTCGGAGGTGGCATTTATTGCTGCCCACTGGGCTCCAGTACTTCATGGCCATGAACCTGAACCCCATGGAGTAGGCTCCTCACCCTGCTCCTAGGATGAGGAAGGGAGGGCAGTAAGTCAGCCAATGCCACGCACATCAGCAGCAGGGCCAAGATTTGAACCGGGCACTATCTGGCTCCAAAGCCTGGTCTCTTCCTTGCACACTTGGGTTCTCCACTAAGAGCAGAAGCAGCCCTGGTACCCCAGCAGCCAAGGACGGGGGTTCCAGCCTCCTATCTGCTGCAGGCGTGGACACGGGTGTTTCTTCCTAGGTGCAGAGCCTGGGGGTGGGGGTGCCTGGCCTGTGGGATGTCCCTCCTTGGGCTTCAGACCTTATGCCCTCACCATTGTGACACTCTTCCTGGGTCTGCAGTGGGCGGCCGTGTGGACTTTGAGGAGTTTGTAGAACTGATAGGCCCAAAGCTGAGGGAGGAGACGGCGCACATGCTGGGGGTGCGAGAGCTGCGCATCGCCTTCCGAGAGGTGCGGAGTGTGGTGAGGTGGGCAGAGGGGGGCAGGGCTGGGTGGCATCCTTGCTGGCCTCTCACTCAGGTCTCAGCCTTGGGAAGGCCTAGAGCCCTGCAGGCGGTGGGACTGGGGCCCAGGGATGGGTCAGAGATGGTTCAGATCACTACCAGCTAGAGGATCCGTCCAGGGGGACTTCCTGGAGCAGGAGGCAAACCACCTTGGTGTGGGAGGGTGTGGAAGGTGTGCATGGGCAGAGATGGTGGGCAGGGGAGCATCTAGGTACAGGCAGCGGTAAGAGTGGAACTGGCTGGCCAGGCGCGGTGGCTCACGCCTGCAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTCAGGAGTTTGAGGTCAGCCTGGCCAACATGGCAAAACCCCATCTCTATTAAAAATACAAAAATTAGCCAAGGGTTGTGGTGGGCACCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCTGGAGGCGAAGGTTGCAGTGAGCCGAAATTGCGTCACTGCACTCCAGCCTGGTGACAGAGCAAGACTCCATCTCAAAAAATAAAATAAAAATAAATAAAATAAAATAAAATAAAAAATAAAAGAGTGGAGCTGGCTGAGGCTGAGGCAGCTTTGGGTGGGAGGGGCTGAGCTTTGCGGGGACCTTAGTTTGACAGGGACAGGGATGGACGAATTACGGTGGCGGAGCCGCGGGAGGCGGTACCGGCTCTGCTCGGGGAGCCGCTGGCGGGTCCTGAGCTGGACGAGATGCTCCGAGAAGTGGACCTCAATGGGGATGGCACCGTAGACTTTGACGGTGAGTCTCCTTCCCGGAAAACCCTCCCGTGCTTCCAGGGCCTAGGCTGAGCCCAGCACCTCCTGGGATCCCTGACGTGGACTGACCCAAGCCCTGCCCTTCTCTCCCGCAGAGTTTGTGATGATGCTCTCCCGCCACTGAGGCTCCAGGAGGGAATATCTGTTGCCCCTGCGGCCCCAGACACCAGCCAGACCCAGGCTGCAGGCCTCCCCCAGGAGCCTCCAGGATGGAGATGGAGACCCAGCAGCCCCCAGACTACTTCTATCCCTGAAAACACCTGGCCTCAATGTTGGCTTGTTATGTTACCTGCCCACCCTCATCCTTACCTCCTCCTACTCAAGCTGCCTGGAGAAGACCTGCTCTCAGCTGCCCACCGTTCCTCAGTGTGAGCAAGATTTGGGTCTCTCCAGACCTCTGGGAGGTAGGGAGTTCCCTGGCACTGGCAGCATTCAGTGGGGACCCCCCAGTGGCATGATGAATGGAGAGGATGGCTGGACCCCTTCCACTACTTATGTTTATAATTTTTTTTTTTTTTAATGAACTTGAGCCGGGTGCAGTGGCTCACACCTGTAAGCCCAGCTGTCAGGGGGCAGAAGCGGGAGGATAGCTTGAGCCCAGGAGTGCAAGACCTGCCTGGGCAATATACTGAGACCCCATTCTCCACAAAAAGGAAAAATAAAAGACAAAAAAACAAACAAAAAACCAAAAAACCCAAGTGTAAAAAAAGTGAGCTTGAAAGAAAGAAAGGGATGGCTCCATGTATCAAAGACAAAGAAATCAAAGCTGGGGTTGTAAGAGGGAGCTGACGCTGTGGGGGTTTCAGATCTGGATGGAGGCTTGGCCGCCTGGACTCCTACAACCATGAGTGACAGAAGAACCATATGAGTCTGGGGAGCAAGAAACAAACCCCCCGGATATATTCCAGGGTCTCCAAAGGCTAAGATATTAATCTGTCTGCACTGACCAGTCATAGAAAGTGGCAAGGATACAGATGTTCAGGGCCCAGAGTGGAAACAGCTGCCCTAAAGAGCCTGGAACTCCAGGGCCTGCCCTTCAAGCAGGCGTGTAGTCTCTCTCCAGGGTGTGAAAAACTGGAAAAAAACCCTGCCGCTCCCAAAGGGGAACTTGTGATAAAAATTACAGATTATTGGGCTGGGAGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGAATTACCTGAGGTCAGGAGTTTGAGGCCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAACTGGGCGAGGTAGCATGCACCTGTAATCTCAGCTACTCGGAGGTTGAGGCAGGAGAATCGCTTGAGCCCGGGAGGTGGAGCTGCAGTGAGCTGAGATCACACCATTGCACCCCAGCCTGAGCAACAGATCGAGACTCCGTCTCAAAAACAAAACAAAAAAACCATACTGATTATAAAAGTAAAGAAACCACCATGAAGGAGACGAGACAGAGACAAAAACAAGAGGACTGGCATCTCAGTGTACATAATACAGCCGCCTAAGAGACCACAAGATACATGCAAATAAAAGACGGCTAAAAGGGGAAGAGAGATCAACATGCAGTAACAGGATAGTATGAAGAGAGAACCGGAAGATTTAAAAAGTAACCCAACAGGCCAGGCGCATGGCTCATGCCTGGAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGGTTGCTTGAGCTCAGGAATTCGAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGCTTGCATCTGTGGTCCCAGGTATTCTACAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGTCGAGATCGCACCACTGCACTCCAGCGTGGGTAACAGAGTGAGAATCCGT
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Task1_train_16140
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This variant lies on Chromosome 11 and affects the gene CABP2 (calcium binding protein 2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Autosomal recessive nonsyndromic hearing loss 93
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TGCGGCCGTCCCCATTGGTGTCGAACTGTGGCGGCGTTGGTTGTGGCGTCTGGTCACTGACAGTCATTCACACGCGCAGCCCCTCACTCACGGCAGACACGCAGCCCTGCCCGCCCTCAGCCCCAGTGGCCGCACCTCCCGGAAGGCGTCCCGTAGCTCCCGGACACCGATCATGTCTGCCGTCTCTGCCAGCAGCTTGGGGCCCATCAGCTCCACGAAGTCTTCAAAGTCCACCTTTCCGCCACCTGGGGGTCCCGTCCATTACAGACCCAGGGCATCAGAGACCCCTGCCCCTCCCTGGCCCTCCCTCCTCTGCCCTCTGCCTTCCCTTCGTGAATGGATCCTTTCCTCCCTCTGCGCCAGAAGCCTGGGTCATCTGTATTTCCCAATGGGAATCGCCCTCCAAACAAGGCACAGATTTGGCCAAAAGTGAAAGGAAAACCACTCTCAAAACTTATTGGGCCGGGCACGGTGGTTCACGCCTGTAATGCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACTAACATGGTGAAACCCCGTCTCCACTAAAAATACAAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGATGTTGCAGTGAGCCGAGATAGCGCCATTGTCACTCCTGGGTGACAGAAAAAGACCCCATCTAAACAAAAAACAAAAAACAAAAAACAAACAAACAAAAAAACCAAAAAACTTCTTGGAACTTTCCTTAATTTTCCTGAACTCTTCGGTTGGGTTCAAGTCCTGGCTCCAAGGAACTTGCTGTGTGACCTTAGACAAGTCACTTAGCCATTCAGTTGCCTCATCTGCAGAATGAGGATCACAGTCCTTGCTGTGCCCACCTCCTAGAAGCTGGTGAGATTCTCCAGAGGCAGAGAGCTTGCCTTGAGAATGACCAAGGTCATGGGCTCTGGGGACAGCCTGTGCAGTCACCTGTGTACCTGGACTGCTTGGCTTCATGGGCCCAGCGGGGGCATCTGGAGGACTGGGGATGGGGATGGGTCCGAGGCACATACTGATTTGTTGTGAGATCTCGATGAGCTCCATCTCGGTGGGCATGTAGCCCAGGGTCCGCATGCAGGCACCCAGCTCCCGGCAGCCAATGTAGCCGTCCCGGTCTCGGTCAAACTCCTGGAAGGCGACCTGCAGCTCTGCCAGGCAGGGTGGGGTCAGTCCTTCCCCCACAACCCCCTGATCCTGGCCTGGACCCGCCTACCCTTCTCCCTTGGTCCAATCATCCCTCCTTCTGAACATCAGATTCTCTTTGCTGCCTCGGGGCCTTTGCACGTGCTGTTCCTGTTATTTGTTCTTTCAGCAAATATTTGAGGAGCATCTACTATGTGCCAAGCTCTGCTCTAGGCACTGGGGATACAGCAGTGAAATTTTTCAAAAAGGAAGAAAGAAAGAAAGTGGGGGAAACAAATTCTGACCTCTTGGAGATTTCCTCACTCTTCCCCTTCCTCTTTGGTCCTATGTCACCTACTAAAGGAAGCCATCCCTCTACATGTGGCCTCCCCCGGCCCATTTGTCCCTTTCCTGGAGAGCACATGCACCATTTGTACTTGTAGCTGACTAATTGACGTTGGTCTCCAGAGGGCACGGGCCATATCTGTCTAGCTGGCCATGTTTCCCAGTGCTCAGCCAGGGCCAGGCACACAGTGGGCACCCAGGAAGTGTCAGCTGAATGAACAAATATAAAAGGGGCCCTGTCACCTGCCTGGTGAGTGAGACCAAGGAATGACAGCTGGGTGGGGGTCTGTCATCCCCTCCCTGCTCAGTCTTGTCCCCATTTCCCTAAACTGGTCCCCTGCAGCCTTCTTGCTCCCACTTCCTCCTGGAAACACTGAGGCCCCCACCCGATGCCCCCCCAACCCTGTGTCCCCACCCCATGCCCCCCATGCCACCTCCCCTTCAGGGAACCAGTTCCTTCTCCAACCCTTTACCTTCAATCTCCTCGGGCCGCAGCTCCCGGTCCTGAAGGGCACAGAGGGGTTAGGAATTCCCTGCTCCTACTGATGACTGTGCCCTTCCTTCTTGCTTCCCGGGGCTCCCCACCCAGCCCCACAATCCAACACGCACACGCAGGGCCTGTGTCTGTCTGATTGCTCGGCCCTGGTTCCCACCCCATCCTACTCACTGGCCTGGGTAACCGGGTGCCCCCTTCCCTGCTTCTGGCCTAGGTCACTCCTTGGGCCGTCCTCACCTACTCCATCACCCTCTTCTGGGGCAGGGGGCTCCCTTTGCTGGTGGTGGATCTGGGGTTTGGGCAGAACCTCAGACTTGGTCCCGCCAGCCTCAATGTCACTGTTGATCTCTCTTCCATTTCTAGAGTCATTGCTCTCTCCCCTCTCTGCACCCCCACCCCAGATCTGTGTACCTTTGCTCTGATGTCCCCACTCAATCCTCTTCCCCCTAGCTCCAGGAGAGGCAAAGCGAGGGGCAAGGGTAGGTGGGCTGGAGTGCGAGGGGCAAGGGCAGGTGAGCTGGTGGGAGAGGGGCAAGGGCAGGCAGGCTGGCGGGCGGGTGGCCGTACATACGAGTTGGGTGGCGGCAATGCTGGGCCGCAGGAAGATGCAGGCAGGCCCCACCAGGCTGTTGAGCACCGAGTAGCCCTGGACGCCTGGCGCGGGGTCCCCCTGCTCCTTGGGGCTGGAGCTGGGGCTGGGGCAGGAGCCCCTTGGTGGGGAGCCGAGCCACTGCAAGGGGTCCTGCAGCAGAGCCGGCCGTGAGCTGGGGCAGTGGCCGCTGAGCTCTGGGCCTGATAGCCCTCCCCACTCCTCTCACCAGCTGCTCCTGTCTTTGGAGCCCGGCATGGGACAGTAGGGAAGGGGCTGGGGGGTAGAGAGAGGACCCTCACCCGTGAACTCTTTAGGCAGAAAGGGTCAATCCTCTAACTGTTCTGTTGGGCAAACTGAGGACCAGAAAAGGCAAGAGACTTGGCCAAGGCCACTGAGAAAGCCAGCGGCAGAGAGGGACCTTGTGCCCAGCTCTGTCTCCTAGATGGAGGCTGGCTAGCAGAGAGCGGGGACCTGCAGCCGGGATGGGGCAGCTGGACGGGCAGCTGGGGGACCTGGAGCCTGGCAGGGGAGACCCAGAGGTCGGTGGGAGCCAAGATCAGGATGGCCAGAGGCTGTGGCTTCCAGGAAAAAAATCTCCACCTGGGGCAGTGGGCAGCCCCCAACCCCGCCCGGCCCTCGGAGGGCTCTGCCCATCCCATCTGACCCTCAGGGTCCATTCCAGCCTCCTGGCCTGGGTTTCTCCCCTGACCCCTCCTACCTTAGGGCCCCGGCGCCAGGGCCGCTTGGCACAGTTCCCCATGGGCCCTGAACCATGCCAGGCCTGGAACCCCGGGGGTGGCCCGGGTGGGCCTCGGCGGATGCTGCTGCCTGAGGACTCCTGCCAGCCCCCAGCTGCTCCCGATGAGAGCCTGGGAGTACTGCCGGGGATTTTCCTGGGGTTTTGTGGGGAAGATCGGGGGCGGGTGGGCAGGCGGGGGACTTGGGCCTGGGGCTTGGGTCCTAATCCGGGATTATCTTTGAGCGTCTCCGCTGCTGAGGGGAGCCACTTGGGCCCAAGGCCCCCTGGAGAGCACAGCCTCCCCAGACTGCCTCCTGAGGGTCTTCCAGACGCCCCTTCTCCAGCACCCTCCCCCAACCCCTGCCTCTAATCTCTCCCAATCAGGGGAGATTTAATGTCTTCAGAAGCAGGGCCTGGGTCCCAGGAGGAGGAAGGCAGGCGTGCAGTGTGCCAGGGTGGGCTGGGCCCTCCGAATGGCACAGATTCCGGTTGGTATGGACACGCGGGCCTTCCCACACAGCCTCCCAGAAAGAGGCAGCCACTTGGCTCAGCCCAGGAAGCCCCTGCCTCTCCCTGCCAGGACCCCAGCTGGGCCCTGGGCTCCTCACCTCGGGGTAGCCCCAATTGCTTGCACTTGGCTCCCCCTGCCTGGACTGGTGCCCCGCCCTTGGATGAGGAGCAGAAGGGAACCGCCTATGTGCTGTGG
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TGCGGCCGTCCCCATTGGTGTCGAACTGTGGCGGCGTTGGTTGTGGCGTCTGGTCACTGACAGTCATTCACACGCGCAGCCCCTCACTCACGGCAGACACGCAGCCCTGCCCGCCCTCAGCCCCAGTGGCCGCACCTCCCGGAAGGCGTCCCGTAGCTCCCGGACACCGATCATGTCTGCCGTCTCTGCCAGCAGCTTGGGGCCCATCAGCTCCACGAAGTCTTCAAAGTCCACCTTTCCGCCACCTGGGGGTCCCGTCCATTACAGACCCAGGGCATCAGAGACCCCTGCCCCTCCCTGGCCCTCCCTCCTCTGCCCTCTGCCTTCCCTTCGTGAATGGATCCTTTCCTCCCTCTGCGCCAGAAGCCTGGGTCATCTGTATTTCCCAATGGGAATCGCCCTCCAAACAAGGCACAGATTTGGCCAAAAGTGAAAGGAAAACCACTCTCAAAACTTATTGGGCCGGGCACGGTGGTTCACGCCTGTAATGCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACTAACATGGTGAAACCCCGTCTCCACTAAAAATACAAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGATGTTGCAGTGAGCCGAGATAGCGCCATTGTCACTCCTGGGTGACAGAAAAAGACCCCATCTAAACAAAAAACAAAAAACAAAAAACAAACAAACAAAAAAACCAAAAAACTTCTTGGAACTTTCCTTAATTTTCCTGAACTCTTCGGTTGGGTTCAAGTCCTGGCTCCAAGGAACTTGCTGTGTGACCTTAGACAAGTCACTTAGCCATTCAGTTGCCTCATCTGCAGAATGAGGATCACAGTCCTTGCTGTGCCCACCTCCTAGAAGCTGGTGAGATTCTCCAGAGGCAGAGAGCTTGCCTTGAGAATGACCAAGGTCATGGGCTCTGGGGACAGCCTGTGCAGTCACCTGTGTACCTGGACTGCTTGGCTTCATGGGCCCAGCGGGGGCATCTGGAGGACTGGGGATGGGGATGGGTCCGAGGCACATACTGATTTGTTGTGAGATCTCGATGAGCTCCATCTCGGTGGGCATGTAGCCCAGGGTCCGCATGCAGGCACCCAGCTCCCGGCAGCCAATGTAGCCGTCCCGGTCTCGGTCAAACTCCTGGAAGGCGACCTGCAGCTCTGCCAGGCAGGGTGGGGTCAGTCCTTCCCCCACAACCCCCTGATCCTGGCCTGGACCCGCCTACCCTTCTCCCTTGGTCCAATCATCCCTCCTTCTGAACATCAGATTCTCTTTGCTGCCTCGGGGCCTTTGCACGTGCTGTTCCTGTTATTTGTTCTTTCAGCAAATATTTGAGGAGCATCTACTATGTGCCAAGCTCTGCTCTAGGCACTGGGGATACAGCAGTGAAATTTTTCAAAAAGGAAGAAAGAAAGAAAGTGGGGGAAACAAATTCTGACCTCTTGGAGATTTCCTCACTCTTCCCCTTCCTCTTTGGTCCTATGTCACCTACTAAAGGAAGCCATCCCTCTACATGTGGCCTCCCCCGGCCCATTTGTCCCTTTCCTGGAGAGCACATGCACCATTTGTACTTGTAGCTGACTAATTGACGTTGGTCTCCAGAGGGCACGGGCCATATCTGTCTAGCTGGCCATGTTTCCCAGTGCTCAGCCAGGGCCAGGCACACAGTGGGCACCCAGGAAGTGTCAGCTGAATGAACAAATATAAAAGGGGCCCTGTCACCTGCCTGGTGAGTGAGACCAAGGAATGACAGCTGGGTGGGGGTCTGTCATCCCCTCCCTGCTCAGTCTTGTCCCCATTTCCCTAAACTGGTCCCCTGCAGCCTTCTTGCTCCCACTTCCTCCTGGAAACACTGAGGCCCCCACCCGATGCCCCCCCAACCCTGTGTCCCCACCCCATGCCCCCCATGCCACCTCCCCTTCAGGGAACCAGTTCCTTCTCCAACCCTTTACCTTCAATCTCCTTGGGCCGCAGCTCCCGGTCCTGAAGGGCACAGAGGGGTTAGGAATTCCCTGCTCCTACTGATGACTGTGCCCTTCCTTCTTGCTTCCCGGGGCTCCCCACCCAGCCCCACAATCCAACACGCACACGCAGGGCCTGTGTCTGTCTGATTGCTCGGCCCTGGTTCCCACCCCATCCTACTCACTGGCCTGGGTAACCGGGTGCCCCCTTCCCTGCTTCTGGCCTAGGTCACTCCTTGGGCCGTCCTCACCTACTCCATCACCCTCTTCTGGGGCAGGGGGCTCCCTTTGCTGGTGGTGGATCTGGGGTTTGGGCAGAACCTCAGACTTGGTCCCGCCAGCCTCAATGTCACTGTTGATCTCTCTTCCATTTCTAGAGTCATTGCTCTCTCCCCTCTCTGCACCCCCACCCCAGATCTGTGTACCTTTGCTCTGATGTCCCCACTCAATCCTCTTCCCCCTAGCTCCAGGAGAGGCAAAGCGAGGGGCAAGGGTAGGTGGGCTGGAGTGCGAGGGGCAAGGGCAGGTGAGCTGGTGGGAGAGGGGCAAGGGCAGGCAGGCTGGCGGGCGGGTGGCCGTACATACGAGTTGGGTGGCGGCAATGCTGGGCCGCAGGAAGATGCAGGCAGGCCCCACCAGGCTGTTGAGCACCGAGTAGCCCTGGACGCCTGGCGCGGGGTCCCCCTGCTCCTTGGGGCTGGAGCTGGGGCTGGGGCAGGAGCCCCTTGGTGGGGAGCCGAGCCACTGCAAGGGGTCCTGCAGCAGAGCCGGCCGTGAGCTGGGGCAGTGGCCGCTGAGCTCTGGGCCTGATAGCCCTCCCCACTCCTCTCACCAGCTGCTCCTGTCTTTGGAGCCCGGCATGGGACAGTAGGGAAGGGGCTGGGGGGTAGAGAGAGGACCCTCACCCGTGAACTCTTTAGGCAGAAAGGGTCAATCCTCTAACTGTTCTGTTGGGCAAACTGAGGACCAGAAAAGGCAAGAGACTTGGCCAAGGCCACTGAGAAAGCCAGCGGCAGAGAGGGACCTTGTGCCCAGCTCTGTCTCCTAGATGGAGGCTGGCTAGCAGAGAGCGGGGACCTGCAGCCGGGATGGGGCAGCTGGACGGGCAGCTGGGGGACCTGGAGCCTGGCAGGGGAGACCCAGAGGTCGGTGGGAGCCAAGATCAGGATGGCCAGAGGCTGTGGCTTCCAGGAAAAAAATCTCCACCTGGGGCAGTGGGCAGCCCCCAACCCCGCCCGGCCCTCGGAGGGCTCTGCCCATCCCATCTGACCCTCAGGGTCCATTCCAGCCTCCTGGCCTGGGTTTCTCCCCTGACCCCTCCTACCTTAGGGCCCCGGCGCCAGGGCCGCTTGGCACAGTTCCCCATGGGCCCTGAACCATGCCAGGCCTGGAACCCCGGGGGTGGCCCGGGTGGGCCTCGGCGGATGCTGCTGCCTGAGGACTCCTGCCAGCCCCCAGCTGCTCCCGATGAGAGCCTGGGAGTACTGCCGGGGATTTTCCTGGGGTTTTGTGGGGAAGATCGGGGGCGGGTGGGCAGGCGGGGGACTTGGGCCTGGGGCTTGGGTCCTAATCCGGGATTATCTTTGAGCGTCTCCGCTGCTGAGGGGAGCCACTTGGGCCCAAGGCCCCCTGGAGAGCACAGCCTCCCCAGACTGCCTCCTGAGGGTCTTCCAGACGCCCCTTCTCCAGCACCCTCCCCCAACCCCTGCCTCTAATCTCTCCCAATCAGGGGAGATTTAATGTCTTCAGAAGCAGGGCCTGGGTCCCAGGAGGAGGAAGGCAGGCGTGCAGTGTGCCAGGGTGGGCTGGGCCCTCCGAATGGCACAGATTCCGGTTGGTATGGACACGCGGGCCTTCCCACACAGCCTCCCAGAAAGAGGCAGCCACTTGGCTCAGCCCAGGAAGCCCCTGCCTCTCCCTGCCAGGACCCCAGCTGGGCCCTGGGCTCCTCACCTCGGGGTAGCCCCAATTGCTTGCACTTGGCTCCCCCTGCCTGGACTGGTGCCCCGCCCTTGGATGAGGAGCAGAAGGGAACCGCCTATGTGCTGTGG
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Task1_train_16141
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Here’s a variant in NDUFV1 (NADH:ubiquinone oxidoreductase core subunit V1) located on Chromosome 11. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Mitochondrial complex 1 deficiency, nuclear type 4
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ATGAAGACCGGATTTTCACCAACCTGTACGGCCGCCATGACTGGAGGTGAGACAGTGCCCTTAGTGTGTTGGGTCCCGGAGCAAGGTGTCCCCTTCATTGCCTTCCCTATTCTGTCCAGGCTGAAAGGTTCCCTGAGTCGAGGTGACTGGTACAAGACAAAGGAGATCCTGCTGAAGGGGCCCGACTGGATCCTGGGCGAGATCAAGACATCGGGTTTGAGGGGCCGTGGAGGCGCTGGCTTCCCCACTGGCCTCAAGTGGAGCTTCATGAATAAGCCCTCAGATGGCAGGTGTGTGTGTGGGGGCGGGGCAGATGTGGCTGTGGGAGAGACCTTGGGGGTGGCTGGGGTTTCCCTGGGCCTTTGGGCTCTTTCCTTAGAAACTTAGCATGAATGAGGTGGGCACATGTTCCCAGGCCTTAAATGGATGGGACTTACTCTGTGGACTTCCACAGGGGAGACTTATGTAGCAGAATCAACACATGATTTTGACTCAGGCAGACTTAGTTCAAATCCTAGCTCTGCCTCCTAATCATAGAGGTTTGGGCAATTTCCCAGCCTTTGTGAACCTTAGCTTCCTTTTTGTAAATAGGTACAGTGATATCATGCAAGGATTAAAGAGATAATGTTCATACAGCTTTTGGCCTGTATGCTGGTTGGCACATAAAGCAAATGATAAATGTCACCTGCTTTACCTCCTTTTGATGGTAGAGCTTGAGGAATGCTCTTTGTCACCAAGAGTAGAATCTGGCTCTCAGGGGCAGACACAAGGAGAGATGTTTGGATGAGCTGAATGAAGACCTTTCTTGTGGTCATAGCCACCCAAAGACAGAATAGGCAGTGAGCTCCCTGTCATTGGTGGTGAGCAAGCAGAGCCCCTGGGACATGTTGGGAGGGCAGTAAAGGATTGGCTGTCAGAGGAGACATCTTTGAGGCCTCCCTGGGTGGAGTGGGGTGGCATGGAGTTGAAGACCCAGTCCTGATGGCCCTGTAGCCTGTCTGACCTGTGGGCCCCTGCAGGCCCAAGTATCTGGTGGTGAACGCAGACGAGGGGGAGCCGGGCACCTGCAAGGACCGGGAGATCTTACGCCATGATCCTCACAAGCTGCTGGAAGGCTGCCTGGTGGGGGGCCGGGCCATGGGCGCCCGCGCTGCCTATATCTACATCCGAGGGGAATTCTACAATGAGGCCTCCAATCTGCAGGTGGGTAGGGAGAGATGTAGACAGATGAGAAGGTGTTCAGTGTGCACTCACACACCCCTCACCCAGCACAGTTGTTCTGAGGTGTTAGTACCTGGTCTGTCAGTGGTTGAACTGGGGGAGTGGTGGCCAGTCCTGCATGCATCCCAAATGGGACTTGGCTCCCAAAGCCTCCTTCCAGGGCTCCTAATGCTGCTGGTGTAAATTTTTTTTTTTTGCTTCAAAAATATAGTATTTTTTATAAAACAAGTAGCAAGAAGAAAAAACCTAAGTGGAACTATGTGTTTAGCAAGAGAGCGGAATAATTATGAATATAAACAATTCCTATTTGGAGAAAATACATTATGTTCATTGCTTGGAACTATGAATAATACTTATATCTGTAGGAAATATAGAAAAATAAAATAGGTTAAGGCAATAAGGATATAGGCAATTACATTTTTATTTTAATTTTATAAGGACTTTTATTTTTCCTTTACAGACTAGGGTAGTTAGGAGACCTGATAGTAGCTACTTCGTTTTTATTTTCCTGGCAGCAAAGCAGCTTACTTATGTGTTCCTTCTTGCTTATCTGTTCCAGATCATAGTCAAGTTTTCCAATTCGTTTTACTAAGCTAGCAAAATTTTTTATACCAGGAGCATTAGGAGCTTCACCGTGGGAGGCCTTCAAGGGCTTCATGACTCCTGAAGTTATAGGCTGACTCCTGGGCTGGGGGTGGGCTGGGAAACTCACACCTTTGTCCTGCAGGTGGCCATCCGAGAGGCCTATGAGGCAGGTCTGATTGGCAAGAATGCTTGTGGCTCTGGCTATGATTTTGACGTGTTTGTGGTGCGCGGGGCTGGGGCCTACATCTGTGGAGAGGAGACAGCGCTCATCGAGTCCATTGAGGGCAAGCAGGGCAAGCCCCGCCTGAAGCCCCCCTTCCCCGCAGACGTGGGTAAGGCCTGGCGTAACCCTGGGTCAGACTGTGTCCTGTGACACCCGGGATCTGGCTAGGCTCCCTTTGGATTGTTCTTAGGGATTTCTGAGTGGCTTCCCGGCTGGGGCCAGATAGAGAGTAGGCTGGCAACAACACACAGGCTCCCCCAGGGCCGCCTGCTGTCCCTCCTCCTGCCTCGGTCCCCTCCGCACCAGTGCTGCTCTGTGGCTCCACCTTCACAGTGCCTGTTCTGAGGCTAAGGGCATGGGGTGAACAAGGCAATGGGCATCTCTGGAGTTTGGGGTCCAGCAGGGATAAGAATGATAAGGGGATATTAGAGCAGGGGCTCTGCCATGGGTGCAGGACCCTGGGACACACCTCCCTGCCAGGAAACTTGCCCCACCCCCTAGCAGCCACCAGTTCTCTTCCCATTTCCCTGAAGGAGTGTTTGGCTGCCCCACAACTGTGGCCAACGTGGAGACAGTGGCAGTGTCCCCCACAATCTGCCGCCGTGGAGGTACCTGGTTTGCTGGCTTTGGCAGAGAACGCAACTCAGGCACCAAACTATTCAACATCTCTGGCCATGTCAACCACCCTTGCACTGTGGAGGAGGAGATGTCTGTGCCCTTGAAAGAACTGATTGAGAAGCATGCTGGTAAGGCCTGGGGCCAGCCAGGTGGTGGGGGGGTGCGCAGTGGGGGCAGGTGTCCACAAAGAGAGCCTGGGCGGGAGGGCTCAGGAGACGGGGCTGGGTCTAGGGGCTGACTAAGGGCCTGGGCTCAGGACTAGGCAGGTGTGCCGGCCCCAGCCCTGACCATGCATCCCTTTGGGGACCGACTTGGGGCCCCAGGGGGTGTCACGGGCGGCTGGGACAACCTCCTTGCTGTGATCCCTGGCGGCTCGTCTACCCCACTGATCCCCAAGTCTGTGTGTGAGACGGTGCTGATGGACTTCGATGCGCTGGTGCAGGCACAGACAGGCCTGGGCACAGCTGCGGTGATCGTCATGGACCGCTCGGTAAGGGTTCACACACCAGCCCTGGTCCCTGCCCTCCTGGTTGCTGTCTCCCTCCCTGGGCCTCCCAGAAAACCCTCTTGCCAGCACTCAGGTCTCAGTTCCTGCAGCCTGAGATAAAGCAAGGTGGAAGAGGAGGGAGGAAGGCTGCTCTGAGGAGAATACCCCGGAGTCTGGGCAGCACAGGGGGCCCAGGGAGGCTGGAGGAGGCCAGAACGCTGGGTGGGCTGGGAAGAGCTTCTGGAACTGGGGGAGGGGCTGCTGCTAGGGGGCTGAGGCCCAGGCTTCTGTCTGGCCGTGGGTGCCTGCTAATTGCCCCTCGTCACCCAGACGGACATCGTGAAAGCCATCGCCCGCCTCATTGAGTTCTATAAGCACGAGAGCTGTGGCCAGTGTACCCCATGCCGTGAGGGTGAGCATCGGGCAGGTTGGGGGCTTGCTTGCTGTGGCTTCATTTAACCTCCTCCCCACCACGTGGCCTGCAGCCCTCAAGCGCCGCCCCACATCCTGGCTGGGGAGATCATCAGGCCCTCTCTTGTGGCTGTGGCTGCAGGTGTGGACTGGATGAACAAGGTGATGGCACGTTTCGTGAGGGGGGATGCCCGGCCGGCCGAGATCGACTCCCTGTGGGAGATCAGCAAGCAGATAGAAGGCCATACGATTTGTGCTCTGGGTGACGGGGCCGCCTGGCCTGTGCAGGTATTCACCACCCTTCTGCGTAGCACGGAGGGTGGGTGGCATCAAGGGCCCAGGGTGTTGGGGGATTTTTGGACTCTGTTTCACATGGTCCCCCCACCGACCCCAGGGTCTGATCCGCCACTTTCGGCCGGAGCTCGAGGAGCGGATGCAGCGGTTTGCCCAGCAGCATCAGGCCCGGCAGGCTGCCTCTTAGCCCACCACCCTGGCCTGCTGTCCTGCGTCTATCCATGTGGAATGCTGGACAATAAAGCGAGTGCTGCCCA
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ATGAAGACCGGATTTTCACCAACCTGTACGGCCGCCATGACTGGAGGTGAGACAGTGCCCTTAGTGTGTTGGGTCCCGGAGCAAGGTGTCCCCTTCATTGCCTTCCCTATTCTGTCCAGGCTGAAAGGTTCCCTGAGTCGAGGTGACTGGTACAAGACAAAGGAGATCCTGCTGAAGGGGCCCGACTGGATCCTGGGCGAGATCAAGACATCGGGTTTGAGGGGCCGTGGAGGCGCTGGCTTCCCCACTGGCCTCAAGTGGAGCTTCATGAATAAGCCCTCAGATGGCAGGTGTGTGTGTGGGGGCGGGGCAGATGTGGCTGTGGGAGAGACCTTGGGGGTGGCTGGGGTTTCCCTGGGCCTTTGGGCTCTTTCCTTAGAAACTTAGCATGAATGAGGTGGGCACATGTTCCCAGGCCTTAAATGGATGGGACTTACTCTGTGGACTTCCACAGGGGAGACTTATGTAGCAGAATCAACACATGATTTTGACTCAGGCAGACTTAGTTCAAATCCTAGCTCTGCCTCCTAATCATAGAGGTTTGGGCAATTTCCCAGCCTTTGTGAACCTTAGCTTCCTTTTTGTAAATAGGTACAGTGATATCATGCAAGGATTAAAGAGATAATGTTCATACAGCTTTTGGCCTGTATGCTGGTTGGCACATAAAGCAAATGATAAATGTCACCTGCTTTACCTCCTTTTGATGGTAGAGCTTGAGGAATGCTCTTTGTCACCAAGAGTAGAATCTGGCTCTCAGGGGCAGACACAAGGAGAGATGTTTGGATGAGCTGAATGAAGACCTTTCTTGTGGTCATAGCCACCCAAAGACAGAATAGGCAGTGAGCTCCCTGTCATTGGTGGTGAGCAAGCAGAGCCCCTGGGACATGTTGGGAGGGCAGTAAAGGATTGGCTGTCAGAGGAGACATCTTTGAGGCCTCCCTGGGTGGAGTGGGGTGGCATGGAGTTGAAGACCCAGTCCTGATGGCCCTGTAGCCTGTCTGACCTGTGGGCCCCTGCAGGCCCAAGTATCTGGTGGTGAACGCAGACGAGGGGGAGCCGGGCACCTGCAAGGACCGGGAGATCTTACGCCATGATCCTCACAAGCTGCTGGAAGGCTGCCTGGTGGGGGGCCGGGCCATGGGCGCCCGCGCTGCCTATATCTACATCCGAGGGGAATTCTACAATGAGGCCTCCAATCTGCAGGTGGGTAGGGAGAGATGTAGACAGATGAGAAGGTGTTCAGTGTGCACTCACACACCCCTCACCCAGCACAGTTGTTCTGAGGTGTTAGTACCTGGTCTGTCAGTGGTTGAACTGGGGGAGTGGTGGCCAGTCCTGCATGCATCCCAAATGGGACTTGGCTCCCAAAGCCTCCTTCCAGGGCTCCTAATGCTGCTGGTGTAAATTTTTTTTTTTTGCTTCAAAAATATAGTATTTTTTATAAAACAAGTAGCAAGAAGAAAAAACCTAAGTGGAACTATGTGTTTAGCAAGAGAGCGGAATAATTATGAATATAAACAATTCCTATTTGGAGAAAATACATTATGTTCATTGCTTGGAACTATGAATAATACTTATATCTGTAGGAAATATAGAAAAATAAAATAGGTTAAGGCAATAAGGATATAGGCAATTACATTTTTATTTTAATTTTATAAGGACTTTTATTTTTCCTTTACAGACTAGGGTAGTTAGGAGACCTGATAGTAGCTACTTCGTTTTTATTTTCCTGGCAGCAAAGCAGCTTACTTATGTGTTCCTTCTTGCTTATCTGTTCCAGATCATAGTCAAGTTTTCCAATTCGTTTTACTAAGCTAGCAAAATTTTTTATACCAGGAGCATTAGGAGCTTCACCGTGGGAGGCCTTCAAGGGCTTCATGACTCCTGAAGTTATAGGCTGACTCCTGGGCTGGGGGTGGGCTGGGAAACTCACACCTTTGTCCTGCAGGTGGCCATCCGAGAGGCCTATGAGGCAGGTCTGATTGGCAAGAATGCTTGTGGCTCTGGCTATGATTTTGACGTGTTTGTGGTGCGCGGGGCTGGGGCCTGCATCTGTGGAGAGGAGACAGCGCTCATCGAGTCCATTGAGGGCAAGCAGGGCAAGCCCCGCCTGAAGCCCCCCTTCCCCGCAGACGTGGGTAAGGCCTGGCGTAACCCTGGGTCAGACTGTGTCCTGTGACACCCGGGATCTGGCTAGGCTCCCTTTGGATTGTTCTTAGGGATTTCTGAGTGGCTTCCCGGCTGGGGCCAGATAGAGAGTAGGCTGGCAACAACACACAGGCTCCCCCAGGGCCGCCTGCTGTCCCTCCTCCTGCCTCGGTCCCCTCCGCACCAGTGCTGCTCTGTGGCTCCACCTTCACAGTGCCTGTTCTGAGGCTAAGGGCATGGGGTGAACAAGGCAATGGGCATCTCTGGAGTTTGGGGTCCAGCAGGGATAAGAATGATAAGGGGATATTAGAGCAGGGGCTCTGCCATGGGTGCAGGACCCTGGGACACACCTCCCTGCCAGGAAACTTGCCCCACCCCCTAGCAGCCACCAGTTCTCTTCCCATTTCCCTGAAGGAGTGTTTGGCTGCCCCACAACTGTGGCCAACGTGGAGACAGTGGCAGTGTCCCCCACAATCTGCCGCCGTGGAGGTACCTGGTTTGCTGGCTTTGGCAGAGAACGCAACTCAGGCACCAAACTATTCAACATCTCTGGCCATGTCAACCACCCTTGCACTGTGGAGGAGGAGATGTCTGTGCCCTTGAAAGAACTGATTGAGAAGCATGCTGGTAAGGCCTGGGGCCAGCCAGGTGGTGGGGGGGTGCGCAGTGGGGGCAGGTGTCCACAAAGAGAGCCTGGGCGGGAGGGCTCAGGAGACGGGGCTGGGTCTAGGGGCTGACTAAGGGCCTGGGCTCAGGACTAGGCAGGTGTGCCGGCCCCAGCCCTGACCATGCATCCCTTTGGGGACCGACTTGGGGCCCCAGGGGGTGTCACGGGCGGCTGGGACAACCTCCTTGCTGTGATCCCTGGCGGCTCGTCTACCCCACTGATCCCCAAGTCTGTGTGTGAGACGGTGCTGATGGACTTCGATGCGCTGGTGCAGGCACAGACAGGCCTGGGCACAGCTGCGGTGATCGTCATGGACCGCTCGGTAAGGGTTCACACACCAGCCCTGGTCCCTGCCCTCCTGGTTGCTGTCTCCCTCCCTGGGCCTCCCAGAAAACCCTCTTGCCAGCACTCAGGTCTCAGTTCCTGCAGCCTGAGATAAAGCAAGGTGGAAGAGGAGGGAGGAAGGCTGCTCTGAGGAGAATACCCCGGAGTCTGGGCAGCACAGGGGGCCCAGGGAGGCTGGAGGAGGCCAGAACGCTGGGTGGGCTGGGAAGAGCTTCTGGAACTGGGGGAGGGGCTGCTGCTAGGGGGCTGAGGCCCAGGCTTCTGTCTGGCCGTGGGTGCCTGCTAATTGCCCCTCGTCACCCAGACGGACATCGTGAAAGCCATCGCCCGCCTCATTGAGTTCTATAAGCACGAGAGCTGTGGCCAGTGTACCCCATGCCGTGAGGGTGAGCATCGGGCAGGTTGGGGGCTTGCTTGCTGTGGCTTCATTTAACCTCCTCCCCACCACGTGGCCTGCAGCCCTCAAGCGCCGCCCCACATCCTGGCTGGGGAGATCATCAGGCCCTCTCTTGTGGCTGTGGCTGCAGGTGTGGACTGGATGAACAAGGTGATGGCACGTTTCGTGAGGGGGGATGCCCGGCCGGCCGAGATCGACTCCCTGTGGGAGATCAGCAAGCAGATAGAAGGCCATACGATTTGTGCTCTGGGTGACGGGGCCGCCTGGCCTGTGCAGGTATTCACCACCCTTCTGCGTAGCACGGAGGGTGGGTGGCATCAAGGGCCCAGGGTGTTGGGGGATTTTTGGACTCTGTTTCACATGGTCCCCCCACCGACCCCAGGGTCTGATCCGCCACTTTCGGCCGGAGCTCGAGGAGCGGATGCAGCGGTTTGCCCAGCAGCATCAGGCCCGGCAGGCTGCCTCTTAGCCCACCACCCTGGCCTGCTGTCCTGCGTCTATCCATGTGGAATGCTGGACAATAAAGCGAGTGCTGCCCA
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Task1_train_16142
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The gene NDUFV1 (NADH:ubiquinone oxidoreductase core subunit V1) is located on Chromosome 11, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; not provided
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ACCGGATTTTCACCAACCTGTACGGCCGCCATGACTGGAGGTGAGACAGTGCCCTTAGTGTGTTGGGTCCCGGAGCAAGGTGTCCCCTTCATTGCCTTCCCTATTCTGTCCAGGCTGAAAGGTTCCCTGAGTCGAGGTGACTGGTACAAGACAAAGGAGATCCTGCTGAAGGGGCCCGACTGGATCCTGGGCGAGATCAAGACATCGGGTTTGAGGGGCCGTGGAGGCGCTGGCTTCCCCACTGGCCTCAAGTGGAGCTTCATGAATAAGCCCTCAGATGGCAGGTGTGTGTGTGGGGGCGGGGCAGATGTGGCTGTGGGAGAGACCTTGGGGGTGGCTGGGGTTTCCCTGGGCCTTTGGGCTCTTTCCTTAGAAACTTAGCATGAATGAGGTGGGCACATGTTCCCAGGCCTTAAATGGATGGGACTTACTCTGTGGACTTCCACAGGGGAGACTTATGTAGCAGAATCAACACATGATTTTGACTCAGGCAGACTTAGTTCAAATCCTAGCTCTGCCTCCTAATCATAGAGGTTTGGGCAATTTCCCAGCCTTTGTGAACCTTAGCTTCCTTTTTGTAAATAGGTACAGTGATATCATGCAAGGATTAAAGAGATAATGTTCATACAGCTTTTGGCCTGTATGCTGGTTGGCACATAAAGCAAATGATAAATGTCACCTGCTTTACCTCCTTTTGATGGTAGAGCTTGAGGAATGCTCTTTGTCACCAAGAGTAGAATCTGGCTCTCAGGGGCAGACACAAGGAGAGATGTTTGGATGAGCTGAATGAAGACCTTTCTTGTGGTCATAGCCACCCAAAGACAGAATAGGCAGTGAGCTCCCTGTCATTGGTGGTGAGCAAGCAGAGCCCCTGGGACATGTTGGGAGGGCAGTAAAGGATTGGCTGTCAGAGGAGACATCTTTGAGGCCTCCCTGGGTGGAGTGGGGTGGCATGGAGTTGAAGACCCAGTCCTGATGGCCCTGTAGCCTGTCTGACCTGTGGGCCCCTGCAGGCCCAAGTATCTGGTGGTGAACGCAGACGAGGGGGAGCCGGGCACCTGCAAGGACCGGGAGATCTTACGCCATGATCCTCACAAGCTGCTGGAAGGCTGCCTGGTGGGGGGCCGGGCCATGGGCGCCCGCGCTGCCTATATCTACATCCGAGGGGAATTCTACAATGAGGCCTCCAATCTGCAGGTGGGTAGGGAGAGATGTAGACAGATGAGAAGGTGTTCAGTGTGCACTCACACACCCCTCACCCAGCACAGTTGTTCTGAGGTGTTAGTACCTGGTCTGTCAGTGGTTGAACTGGGGGAGTGGTGGCCAGTCCTGCATGCATCCCAAATGGGACTTGGCTCCCAAAGCCTCCTTCCAGGGCTCCTAATGCTGCTGGTGTAAATTTTTTTTTTTTGCTTCAAAAATATAGTATTTTTTATAAAACAAGTAGCAAGAAGAAAAAACCTAAGTGGAACTATGTGTTTAGCAAGAGAGCGGAATAATTATGAATATAAACAATTCCTATTTGGAGAAAATACATTATGTTCATTGCTTGGAACTATGAATAATACTTATATCTGTAGGAAATATAGAAAAATAAAATAGGTTAAGGCAATAAGGATATAGGCAATTACATTTTTATTTTAATTTTATAAGGACTTTTATTTTTCCTTTACAGACTAGGGTAGTTAGGAGACCTGATAGTAGCTACTTCGTTTTTATTTTCCTGGCAGCAAAGCAGCTTACTTATGTGTTCCTTCTTGCTTATCTGTTCCAGATCATAGTCAAGTTTTCCAATTCGTTTTACTAAGCTAGCAAAATTTTTTATACCAGGAGCATTAGGAGCTTCACCGTGGGAGGCCTTCAAGGGCTTCATGACTCCTGAAGTTATAGGCTGACTCCTGGGCTGGGGGTGGGCTGGGAAACTCACACCTTTGTCCTGCAGGTGGCCATCCGAGAGGCCTATGAGGCAGGTCTGATTGGCAAGAATGCTTGTGGCTCTGGCTATGATTTTGACGTGTTTGTGGTGCGCGGGGCTGGGGCCTACATCTGTGGAGAGGAGACAGCGCTCATCGAGTCCATTGAGGGCAAGCAGGGCAAGCCCCGCCTGAAGCCCCCCTTCCCCGCAGACGTGGGTAAGGCCTGGCGTAACCCTGGGTCAGACTGTGTCCTGTGACACCCGGGATCTGGCTAGGCTCCCTTTGGATTGTTCTTAGGGATTTCTGAGTGGCTTCCCGGCTGGGGCCAGATAGAGAGTAGGCTGGCAACAACACACAGGCTCCCCCAGGGCCGCCTGCTGTCCCTCCTCCTGCCTCGGTCCCCTCCGCACCAGTGCTGCTCTGTGGCTCCACCTTCACAGTGCCTGTTCTGAGGCTAAGGGCATGGGGTGAACAAGGCAATGGGCATCTCTGGAGTTTGGGGTCCAGCAGGGATAAGAATGATAAGGGGATATTAGAGCAGGGGCTCTGCCATGGGTGCAGGACCCTGGGACACACCTCCCTGCCAGGAAACTTGCCCCACCCCCTAGCAGCCACCAGTTCTCTTCCCATTTCCCTGAAGGAGTGTTTGGCTGCCCCACAACTGTGGCCAACGTGGAGACAGTGGCAGTGTCCCCCACAATCTGCCGCCGTGGAGGTACCTGGTTTGCTGGCTTTGGCAGAGAACGCAACTCAGGCACCAAACTATTCAACATCTCTGGCCATGTCAACCACCCTTGCACTGTGGAGGAGGAGATGTCTGTGCCCTTGAAAGAACTGATTGAGAAGCATGCTGGTAAGGCCTGGGGCCAGCCAGGTGGTGGGGGGGTGCGCAGTGGGGGCAGGTGTCCACAAAGAGAGCCTGGGCGGGAGGGCTCAGGAGACGGGGCTGGGTCTAGGGGCTGACTAAGGGCCTGGGCTCAGGACTAGGCAGGTGTGCCGGCCCCAGCCCTGACCATGCATCCCTTTGGGGACCGACTTGGGGCCCCAGGGGGTGTCACGGGCGGCTGGGACAACCTCCTTGCTGTGATCCCTGGCGGCTCGTCTACCCCACTGATCCCCAAGTCTGTGTGTGAGACGGTGCTGATGGACTTCGATGCGCTGGTGCAGGCACAGACAGGCCTGGGCACAGCTGCGGTGATCGTCATGGACCGCTCGGTAAGGGTTCACACACCAGCCCTGGTCCCTGCCCTCCTGGTTGCTGTCTCCCTCCCTGGGCCTCCCAGAAAACCCTCTTGCCAGCACTCAGGTCTCAGTTCCTGCAGCCTGAGATAAAGCAAGGTGGAAGAGGAGGGAGGAAGGCTGCTCTGAGGAGAATACCCCGGAGTCTGGGCAGCACAGGGGGCCCAGGGAGGCTGGAGGAGGCCAGAACGCTGGGTGGGCTGGGAAGAGCTTCTGGAACTGGGGGAGGGGCTGCTGCTAGGGGGCTGAGGCCCAGGCTTCTGTCTGGCCGTGGGTGCCTGCTAATTGCCCCTCGTCACCCAGACGGACATCGTGAAAGCCATCGCCCGCCTCATTGAGTTCTATAAGCACGAGAGCTGTGGCCAGTGTACCCCATGCCGTGAGGGTGAGCATCGGGCAGGTTGGGGGCTTGCTTGCTGTGGCTTCATTTAACCTCCTCCCCACCACGTGGCCTGCAGCCCTCAAGCGCCGCCCCACATCCTGGCTGGGGAGATCATCAGGCCCTCTCTTGTGGCTGTGGCTGCAGGTGTGGACTGGATGAACAAGGTGATGGCACGTTTCGTGAGGGGGGATGCCCGGCCGGCCGAGATCGACTCCCTGTGGGAGATCAGCAAGCAGATAGAAGGCCATACGATTTGTGCTCTGGGTGACGGGGCCGCCTGGCCTGTGCAGGTATTCACCACCCTTCTGCGTAGCACGGAGGGTGGGTGGCATCAAGGGCCCAGGGTGTTGGGGGATTTTTGGACTCTGTTTCACATGGTCCCCCCACCGACCCCAGGGTCTGATCCGCCACTTTCGGCCGGAGCTCGAGGAGCGGATGCAGCGGTTTGCCCAGCAGCATCAGGCCCGGCAGGCTGCCTCTTAGCCCACCACCCTGGCCTGCTGTCCTGCGTCTATCCATGTGGAATGCTGGACAATAAAGCGAGTGCTGCCCACCCTCC
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ACCGGATTTTCACCAACCTGTACGGCCGCCATGACTGGAGGTGAGACAGTGCCCTTAGTGTGTTGGGTCCCGGAGCAAGGTGTCCCCTTCATTGCCTTCCCTATTCTGTCCAGGCTGAAAGGTTCCCTGAGTCGAGGTGACTGGTACAAGACAAAGGAGATCCTGCTGAAGGGGCCCGACTGGATCCTGGGCGAGATCAAGACATCGGGTTTGAGGGGCCGTGGAGGCGCTGGCTTCCCCACTGGCCTCAAGTGGAGCTTCATGAATAAGCCCTCAGATGGCAGGTGTGTGTGTGGGGGCGGGGCAGATGTGGCTGTGGGAGAGACCTTGGGGGTGGCTGGGGTTTCCCTGGGCCTTTGGGCTCTTTCCTTAGAAACTTAGCATGAATGAGGTGGGCACATGTTCCCAGGCCTTAAATGGATGGGACTTACTCTGTGGACTTCCACAGGGGAGACTTATGTAGCAGAATCAACACATGATTTTGACTCAGGCAGACTTAGTTCAAATCCTAGCTCTGCCTCCTAATCATAGAGGTTTGGGCAATTTCCCAGCCTTTGTGAACCTTAGCTTCCTTTTTGTAAATAGGTACAGTGATATCATGCAAGGATTAAAGAGATAATGTTCATACAGCTTTTGGCCTGTATGCTGGTTGGCACATAAAGCAAATGATAAATGTCACCTGCTTTACCTCCTTTTGATGGTAGAGCTTGAGGAATGCTCTTTGTCACCAAGAGTAGAATCTGGCTCTCAGGGGCAGACACAAGGAGAGATGTTTGGATGAGCTGAATGAAGACCTTTCTTGTGGTCATAGCCACCCAAAGACAGAATAGGCAGTGAGCTCCCTGTCATTGGTGGTGAGCAAGCAGAGCCCCTGGGACATGTTGGGAGGGCAGTAAAGGATTGGCTGTCAGAGGAGACATCTTTGAGGCCTCCCTGGGTGGAGTGGGGTGGCATGGAGTTGAAGACCCAGTCCTGATGGCCCTGTAGCCTGTCTGACCTGTGGGCCCCTGCAGGCCCAAGTATCTGGTGGTGAACGCAGACGAGGGGGAGCCGGGCACCTGCAAGGACCGGGAGATCTTACGCCATGATCCTCACAAGCTGCTGGAAGGCTGCCTGGTGGGGGGCCGGGCCATGGGCGCCCGCGCTGCCTATATCTACATCCGAGGGGAATTCTACAATGAGGCCTCCAATCTGCAGGTGGGTAGGGAGAGATGTAGACAGATGAGAAGGTGTTCAGTGTGCACTCACACACCCCTCACCCAGCACAGTTGTTCTGAGGTGTTAGTACCTGGTCTGTCAGTGGTTGAACTGGGGGAGTGGTGGCCAGTCCTGCATGCATCCCAAATGGGACTTGGCTCCCAAAGCCTCCTTCCAGGGCTCCTAATGCTGCTGGTGTAAATTTTTTTTTTTTGCTTCAAAAATATAGTATTTTTTATAAAACAAGTAGCAAGAAGAAAAAACCTAAGTGGAACTATGTGTTTAGCAAGAGAGCGGAATAATTATGAATATAAACAATTCCTATTTGGAGAAAATACATTATGTTCATTGCTTGGAACTATGAATAATACTTATATCTGTAGGAAATATAGAAAAATAAAATAGGTTAAGGCAATAAGGATATAGGCAATTACATTTTTATTTTAATTTTATAAGGACTTTTATTTTTCCTTTACAGACTAGGGTAGTTAGGAGACCTGATAGTAGCTACTTCGTTTTTATTTTCCTGGCAGCAAAGCAGCTTACTTATGTGTTCCTTCTTGCTTATCTGTTCCAGATCATAGTCAAGTTTTCCAATTCGTTTTACTAAGCTAGCAAAATTTTTTATACCAGGAGCATTAGGAGCTTCACCGTGGGAGGCCTTCAAGGGCTTCATGACTCCTGAAGTTATAGGCTGACTCCTGGGCTGGGGGTGGGCTGGGAAACTCACACCTTTGTCCTGCAGGTGGCCATCCGAGAGGCCTATGAGGCAGGTCTGATTGGCAAGAATGCTTGTGGCTCTGGCTATGATTTTGACGTGTTTGTGGTGCGCGGGGCTGGGGCCTACATCTATGGAGAGGAGACAGCGCTCATCGAGTCCATTGAGGGCAAGCAGGGCAAGCCCCGCCTGAAGCCCCCCTTCCCCGCAGACGTGGGTAAGGCCTGGCGTAACCCTGGGTCAGACTGTGTCCTGTGACACCCGGGATCTGGCTAGGCTCCCTTTGGATTGTTCTTAGGGATTTCTGAGTGGCTTCCCGGCTGGGGCCAGATAGAGAGTAGGCTGGCAACAACACACAGGCTCCCCCAGGGCCGCCTGCTGTCCCTCCTCCTGCCTCGGTCCCCTCCGCACCAGTGCTGCTCTGTGGCTCCACCTTCACAGTGCCTGTTCTGAGGCTAAGGGCATGGGGTGAACAAGGCAATGGGCATCTCTGGAGTTTGGGGTCCAGCAGGGATAAGAATGATAAGGGGATATTAGAGCAGGGGCTCTGCCATGGGTGCAGGACCCTGGGACACACCTCCCTGCCAGGAAACTTGCCCCACCCCCTAGCAGCCACCAGTTCTCTTCCCATTTCCCTGAAGGAGTGTTTGGCTGCCCCACAACTGTGGCCAACGTGGAGACAGTGGCAGTGTCCCCCACAATCTGCCGCCGTGGAGGTACCTGGTTTGCTGGCTTTGGCAGAGAACGCAACTCAGGCACCAAACTATTCAACATCTCTGGCCATGTCAACCACCCTTGCACTGTGGAGGAGGAGATGTCTGTGCCCTTGAAAGAACTGATTGAGAAGCATGCTGGTAAGGCCTGGGGCCAGCCAGGTGGTGGGGGGGTGCGCAGTGGGGGCAGGTGTCCACAAAGAGAGCCTGGGCGGGAGGGCTCAGGAGACGGGGCTGGGTCTAGGGGCTGACTAAGGGCCTGGGCTCAGGACTAGGCAGGTGTGCCGGCCCCAGCCCTGACCATGCATCCCTTTGGGGACCGACTTGGGGCCCCAGGGGGTGTCACGGGCGGCTGGGACAACCTCCTTGCTGTGATCCCTGGCGGCTCGTCTACCCCACTGATCCCCAAGTCTGTGTGTGAGACGGTGCTGATGGACTTCGATGCGCTGGTGCAGGCACAGACAGGCCTGGGCACAGCTGCGGTGATCGTCATGGACCGCTCGGTAAGGGTTCACACACCAGCCCTGGTCCCTGCCCTCCTGGTTGCTGTCTCCCTCCCTGGGCCTCCCAGAAAACCCTCTTGCCAGCACTCAGGTCTCAGTTCCTGCAGCCTGAGATAAAGCAAGGTGGAAGAGGAGGGAGGAAGGCTGCTCTGAGGAGAATACCCCGGAGTCTGGGCAGCACAGGGGGCCCAGGGAGGCTGGAGGAGGCCAGAACGCTGGGTGGGCTGGGAAGAGCTTCTGGAACTGGGGGAGGGGCTGCTGCTAGGGGGCTGAGGCCCAGGCTTCTGTCTGGCCGTGGGTGCCTGCTAATTGCCCCTCGTCACCCAGACGGACATCGTGAAAGCCATCGCCCGCCTCATTGAGTTCTATAAGCACGAGAGCTGTGGCCAGTGTACCCCATGCCGTGAGGGTGAGCATCGGGCAGGTTGGGGGCTTGCTTGCTGTGGCTTCATTTAACCTCCTCCCCACCACGTGGCCTGCAGCCCTCAAGCGCCGCCCCACATCCTGGCTGGGGAGATCATCAGGCCCTCTCTTGTGGCTGTGGCTGCAGGTGTGGACTGGATGAACAAGGTGATGGCACGTTTCGTGAGGGGGGATGCCCGGCCGGCCGAGATCGACTCCCTGTGGGAGATCAGCAAGCAGATAGAAGGCCATACGATTTGTGCTCTGGGTGACGGGGCCGCCTGGCCTGTGCAGGTATTCACCACCCTTCTGCGTAGCACGGAGGGTGGGTGGCATCAAGGGCCCAGGGTGTTGGGGGATTTTTGGACTCTGTTTCACATGGTCCCCCCACCGACCCCAGGGTCTGATCCGCCACTTTCGGCCGGAGCTCGAGGAGCGGATGCAGCGGTTTGCCCAGCAGCATCAGGCCCGGCAGGCTGCCTCTTAGCCCACCACCCTGGCCTGCTGTCCTGCGTCTATCCATGTGGAATGCTGGACAATAAAGCGAGTGCTGCCCACCCTCC
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Task1_train_16143
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This variant impacts the gene NDUFV1 (NADH:ubiquinone oxidoreductase core subunit V1) on Chromosome 11. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Leigh syndrome
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GGCCGCCATGACTGGAGGTGAGACAGTGCCCTTAGTGTGTTGGGTCCCGGAGCAAGGTGTCCCCTTCATTGCCTTCCCTATTCTGTCCAGGCTGAAAGGTTCCCTGAGTCGAGGTGACTGGTACAAGACAAAGGAGATCCTGCTGAAGGGGCCCGACTGGATCCTGGGCGAGATCAAGACATCGGGTTTGAGGGGCCGTGGAGGCGCTGGCTTCCCCACTGGCCTCAAGTGGAGCTTCATGAATAAGCCCTCAGATGGCAGGTGTGTGTGTGGGGGCGGGGCAGATGTGGCTGTGGGAGAGACCTTGGGGGTGGCTGGGGTTTCCCTGGGCCTTTGGGCTCTTTCCTTAGAAACTTAGCATGAATGAGGTGGGCACATGTTCCCAGGCCTTAAATGGATGGGACTTACTCTGTGGACTTCCACAGGGGAGACTTATGTAGCAGAATCAACACATGATTTTGACTCAGGCAGACTTAGTTCAAATCCTAGCTCTGCCTCCTAATCATAGAGGTTTGGGCAATTTCCCAGCCTTTGTGAACCTTAGCTTCCTTTTTGTAAATAGGTACAGTGATATCATGCAAGGATTAAAGAGATAATGTTCATACAGCTTTTGGCCTGTATGCTGGTTGGCACATAAAGCAAATGATAAATGTCACCTGCTTTACCTCCTTTTGATGGTAGAGCTTGAGGAATGCTCTTTGTCACCAAGAGTAGAATCTGGCTCTCAGGGGCAGACACAAGGAGAGATGTTTGGATGAGCTGAATGAAGACCTTTCTTGTGGTCATAGCCACCCAAAGACAGAATAGGCAGTGAGCTCCCTGTCATTGGTGGTGAGCAAGCAGAGCCCCTGGGACATGTTGGGAGGGCAGTAAAGGATTGGCTGTCAGAGGAGACATCTTTGAGGCCTCCCTGGGTGGAGTGGGGTGGCATGGAGTTGAAGACCCAGTCCTGATGGCCCTGTAGCCTGTCTGACCTGTGGGCCCCTGCAGGCCCAAGTATCTGGTGGTGAACGCAGACGAGGGGGAGCCGGGCACCTGCAAGGACCGGGAGATCTTACGCCATGATCCTCACAAGCTGCTGGAAGGCTGCCTGGTGGGGGGCCGGGCCATGGGCGCCCGCGCTGCCTATATCTACATCCGAGGGGAATTCTACAATGAGGCCTCCAATCTGCAGGTGGGTAGGGAGAGATGTAGACAGATGAGAAGGTGTTCAGTGTGCACTCACACACCCCTCACCCAGCACAGTTGTTCTGAGGTGTTAGTACCTGGTCTGTCAGTGGTTGAACTGGGGGAGTGGTGGCCAGTCCTGCATGCATCCCAAATGGGACTTGGCTCCCAAAGCCTCCTTCCAGGGCTCCTAATGCTGCTGGTGTAAATTTTTTTTTTTTGCTTCAAAAATATAGTATTTTTTATAAAACAAGTAGCAAGAAGAAAAAACCTAAGTGGAACTATGTGTTTAGCAAGAGAGCGGAATAATTATGAATATAAACAATTCCTATTTGGAGAAAATACATTATGTTCATTGCTTGGAACTATGAATAATACTTATATCTGTAGGAAATATAGAAAAATAAAATAGGTTAAGGCAATAAGGATATAGGCAATTACATTTTTATTTTAATTTTATAAGGACTTTTATTTTTCCTTTACAGACTAGGGTAGTTAGGAGACCTGATAGTAGCTACTTCGTTTTTATTTTCCTGGCAGCAAAGCAGCTTACTTATGTGTTCCTTCTTGCTTATCTGTTCCAGATCATAGTCAAGTTTTCCAATTCGTTTTACTAAGCTAGCAAAATTTTTTATACCAGGAGCATTAGGAGCTTCACCGTGGGAGGCCTTCAAGGGCTTCATGACTCCTGAAGTTATAGGCTGACTCCTGGGCTGGGGGTGGGCTGGGAAACTCACACCTTTGTCCTGCAGGTGGCCATCCGAGAGGCCTATGAGGCAGGTCTGATTGGCAAGAATGCTTGTGGCTCTGGCTATGATTTTGACGTGTTTGTGGTGCGCGGGGCTGGGGCCTACATCTGTGGAGAGGAGACAGCGCTCATCGAGTCCATTGAGGGCAAGCAGGGCAAGCCCCGCCTGAAGCCCCCCTTCCCCGCAGACGTGGGTAAGGCCTGGCGTAACCCTGGGTCAGACTGTGTCCTGTGACACCCGGGATCTGGCTAGGCTCCCTTTGGATTGTTCTTAGGGATTTCTGAGTGGCTTCCCGGCTGGGGCCAGATAGAGAGTAGGCTGGCAACAACACACAGGCTCCCCCAGGGCCGCCTGCTGTCCCTCCTCCTGCCTCGGTCCCCTCCGCACCAGTGCTGCTCTGTGGCTCCACCTTCACAGTGCCTGTTCTGAGGCTAAGGGCATGGGGTGAACAAGGCAATGGGCATCTCTGGAGTTTGGGGTCCAGCAGGGATAAGAATGATAAGGGGATATTAGAGCAGGGGCTCTGCCATGGGTGCAGGACCCTGGGACACACCTCCCTGCCAGGAAACTTGCCCCACCCCCTAGCAGCCACCAGTTCTCTTCCCATTTCCCTGAAGGAGTGTTTGGCTGCCCCACAACTGTGGCCAACGTGGAGACAGTGGCAGTGTCCCCCACAATCTGCCGCCGTGGAGGTACCTGGTTTGCTGGCTTTGGCAGAGAACGCAACTCAGGCACCAAACTATTCAACATCTCTGGCCATGTCAACCACCCTTGCACTGTGGAGGAGGAGATGTCTGTGCCCTTGAAAGAACTGATTGAGAAGCATGCTGGTAAGGCCTGGGGCCAGCCAGGTGGTGGGGGGGTGCGCAGTGGGGGCAGGTGTCCACAAAGAGAGCCTGGGCGGGAGGGCTCAGGAGACGGGGCTGGGTCTAGGGGCTGACTAAGGGCCTGGGCTCAGGACTAGGCAGGTGTGCCGGCCCCAGCCCTGACCATGCATCCCTTTGGGGACCGACTTGGGGCCCCAGGGGGTGTCACGGGCGGCTGGGACAACCTCCTTGCTGTGATCCCTGGCGGCTCGTCTACCCCACTGATCCCCAAGTCTGTGTGTGAGACGGTGCTGATGGACTTCGATGCGCTGGTGCAGGCACAGACAGGCCTGGGCACAGCTGCGGTGATCGTCATGGACCGCTCGGTAAGGGTTCACACACCAGCCCTGGTCCCTGCCCTCCTGGTTGCTGTCTCCCTCCCTGGGCCTCCCAGAAAACCCTCTTGCCAGCACTCAGGTCTCAGTTCCTGCAGCCTGAGATAAAGCAAGGTGGAAGAGGAGGGAGGAAGGCTGCTCTGAGGAGAATACCCCGGAGTCTGGGCAGCACAGGGGGCCCAGGGAGGCTGGAGGAGGCCAGAACGCTGGGTGGGCTGGGAAGAGCTTCTGGAACTGGGGGAGGGGCTGCTGCTAGGGGGCTGAGGCCCAGGCTTCTGTCTGGCCGTGGGTGCCTGCTAATTGCCCCTCGTCACCCAGACGGACATCGTGAAAGCCATCGCCCGCCTCATTGAGTTCTATAAGCACGAGAGCTGTGGCCAGTGTACCCCATGCCGTGAGGGTGAGCATCGGGCAGGTTGGGGGCTTGCTTGCTGTGGCTTCATTTAACCTCCTCCCCACCACGTGGCCTGCAGCCCTCAAGCGCCGCCCCACATCCTGGCTGGGGAGATCATCAGGCCCTCTCTTGTGGCTGTGGCTGCAGGTGTGGACTGGATGAACAAGGTGATGGCACGTTTCGTGAGGGGGGATGCCCGGCCGGCCGAGATCGACTCCCTGTGGGAGATCAGCAAGCAGATAGAAGGCCATACGATTTGTGCTCTGGGTGACGGGGCCGCCTGGCCTGTGCAGGTATTCACCACCCTTCTGCGTAGCACGGAGGGTGGGTGGCATCAAGGGCCCAGGGTGTTGGGGGATTTTTGGACTCTGTTTCACATGGTCCCCCCACCGACCCCAGGGTCTGATCCGCCACTTTCGGCCGGAGCTCGAGGAGCGGATGCAGCGGTTTGCCCAGCAGCATCAGGCCCGGCAGGCTGCCTCTTAGCCCACCACCCTGGCCTGCTGTCCTGCGTCTATCCATGTGGAATGCTGGACAATAAAGCGAGTGCTGCCCACCCTCCAGCTGCCGCTGCTGTGACTGTGC
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GGCCGCCATGACTGGAGGTGAGACAGTGCCCTTAGTGTGTTGGGTCCCGGAGCAAGGTGTCCCCTTCATTGCCTTCCCTATTCTGTCCAGGCTGAAAGGTTCCCTGAGTCGAGGTGACTGGTACAAGACAAAGGAGATCCTGCTGAAGGGGCCCGACTGGATCCTGGGCGAGATCAAGACATCGGGTTTGAGGGGCCGTGGAGGCGCTGGCTTCCCCACTGGCCTCAAGTGGAGCTTCATGAATAAGCCCTCAGATGGCAGGTGTGTGTGTGGGGGCGGGGCAGATGTGGCTGTGGGAGAGACCTTGGGGGTGGCTGGGGTTTCCCTGGGCCTTTGGGCTCTTTCCTTAGAAACTTAGCATGAATGAGGTGGGCACATGTTCCCAGGCCTTAAATGGATGGGACTTACTCTGTGGACTTCCACAGGGGAGACTTATGTAGCAGAATCAACACATGATTTTGACTCAGGCAGACTTAGTTCAAATCCTAGCTCTGCCTCCTAATCATAGAGGTTTGGGCAATTTCCCAGCCTTTGTGAACCTTAGCTTCCTTTTTGTAAATAGGTACAGTGATATCATGCAAGGATTAAAGAGATAATGTTCATACAGCTTTTGGCCTGTATGCTGGTTGGCACATAAAGCAAATGATAAATGTCACCTGCTTTACCTCCTTTTGATGGTAGAGCTTGAGGAATGCTCTTTGTCACCAAGAGTAGAATCTGGCTCTCAGGGGCAGACACAAGGAGAGATGTTTGGATGAGCTGAATGAAGACCTTTCTTGTGGTCATAGCCACCCAAAGACAGAATAGGCAGTGAGCTCCCTGTCATTGGTGGTGAGCAAGCAGAGCCCCTGGGACATGTTGGGAGGGCAGTAAAGGATTGGCTGTCAGAGGAGACATCTTTGAGGCCTCCCTGGGTGGAGTGGGGTGGCATGGAGTTGAAGACCCAGTCCTGATGGCCCTGTAGCCTGTCTGACCTGTGGGCCCCTGCAGGCCCAAGTATCTGGTGGTGAACGCAGACGAGGGGGAGCCGGGCACCTGCAAGGACCGGGAGATCTTACGCCATGATCCTCACAAGCTGCTGGAAGGCTGCCTGGTGGGGGGCCGGGCCATGGGCGCCCGCGCTGCCTATATCTACATCCGAGGGGAATTCTACAATGAGGCCTCCAATCTGCAGGTGGGTAGGGAGAGATGTAGACAGATGAGAAGGTGTTCAGTGTGCACTCACACACCCCTCACCCAGCACAGTTGTTCTGAGGTGTTAGTACCTGGTCTGTCAGTGGTTGAACTGGGGGAGTGGTGGCCAGTCCTGCATGCATCCCAAATGGGACTTGGCTCCCAAAGCCTCCTTCCAGGGCTCCTAATGCTGCTGGTGTAAATTTTTTTTTTTTGCTTCAAAAATATAGTATTTTTTATAAAACAAGTAGCAAGAAGAAAAAACCTAAGTGGAACTATGTGTTTAGCAAGAGAGCGGAATAATTATGAATATAAACAATTCCTATTTGGAGAAAATACATTATGTTCATTGCTTGGAACTATGAATAATACTTATATCTGTAGGAAATATAGAAAAATAAAATAGGTTAAGGCAATAAGGATATAGGCAATTACATTTTTATTTTAATTTTATAAGGACTTTTATTTTTCCTTTACAGACTAGGGTAGTTAGGAGACCTGATAGTAGCTACTTCGTTTTTATTTTCCTGGCAGCAAAGCAGCTTACTTATGTGTTCCTTCTTGCTTATCTGTTCCAGATCATAGTCAAGTTTTCCAATTCGTTTTACTAAGCTAGCAAAATTTTTTATACCAGGAGCATTAGGAGCTTCACCGTGGGAGGCCTTCAAGGGCTTCATGACTCCTGAAGTTATAGGCTGACTCCTGGGCTGGGGGTGGGCTGGGAAACTCACACCTTTGTCCTGCAGGTGGCCATCCGAGAGGCCTATGAGGCAGGTCTGATTGGCAAGAATGCTTGTGGCTCTGGCTATGATTTTGACGTGTTTGTGGTGCGCGGGGCTGGGGCCTACATCTGTGGAGAGGAGACAGCGCTCATCAAGTCCATTGAGGGCAAGCAGGGCAAGCCCCGCCTGAAGCCCCCCTTCCCCGCAGACGTGGGTAAGGCCTGGCGTAACCCTGGGTCAGACTGTGTCCTGTGACACCCGGGATCTGGCTAGGCTCCCTTTGGATTGTTCTTAGGGATTTCTGAGTGGCTTCCCGGCTGGGGCCAGATAGAGAGTAGGCTGGCAACAACACACAGGCTCCCCCAGGGCCGCCTGCTGTCCCTCCTCCTGCCTCGGTCCCCTCCGCACCAGTGCTGCTCTGTGGCTCCACCTTCACAGTGCCTGTTCTGAGGCTAAGGGCATGGGGTGAACAAGGCAATGGGCATCTCTGGAGTTTGGGGTCCAGCAGGGATAAGAATGATAAGGGGATATTAGAGCAGGGGCTCTGCCATGGGTGCAGGACCCTGGGACACACCTCCCTGCCAGGAAACTTGCCCCACCCCCTAGCAGCCACCAGTTCTCTTCCCATTTCCCTGAAGGAGTGTTTGGCTGCCCCACAACTGTGGCCAACGTGGAGACAGTGGCAGTGTCCCCCACAATCTGCCGCCGTGGAGGTACCTGGTTTGCTGGCTTTGGCAGAGAACGCAACTCAGGCACCAAACTATTCAACATCTCTGGCCATGTCAACCACCCTTGCACTGTGGAGGAGGAGATGTCTGTGCCCTTGAAAGAACTGATTGAGAAGCATGCTGGTAAGGCCTGGGGCCAGCCAGGTGGTGGGGGGGTGCGCAGTGGGGGCAGGTGTCCACAAAGAGAGCCTGGGCGGGAGGGCTCAGGAGACGGGGCTGGGTCTAGGGGCTGACTAAGGGCCTGGGCTCAGGACTAGGCAGGTGTGCCGGCCCCAGCCCTGACCATGCATCCCTTTGGGGACCGACTTGGGGCCCCAGGGGGTGTCACGGGCGGCTGGGACAACCTCCTTGCTGTGATCCCTGGCGGCTCGTCTACCCCACTGATCCCCAAGTCTGTGTGTGAGACGGTGCTGATGGACTTCGATGCGCTGGTGCAGGCACAGACAGGCCTGGGCACAGCTGCGGTGATCGTCATGGACCGCTCGGTAAGGGTTCACACACCAGCCCTGGTCCCTGCCCTCCTGGTTGCTGTCTCCCTCCCTGGGCCTCCCAGAAAACCCTCTTGCCAGCACTCAGGTCTCAGTTCCTGCAGCCTGAGATAAAGCAAGGTGGAAGAGGAGGGAGGAAGGCTGCTCTGAGGAGAATACCCCGGAGTCTGGGCAGCACAGGGGGCCCAGGGAGGCTGGAGGAGGCCAGAACGCTGGGTGGGCTGGGAAGAGCTTCTGGAACTGGGGGAGGGGCTGCTGCTAGGGGGCTGAGGCCCAGGCTTCTGTCTGGCCGTGGGTGCCTGCTAATTGCCCCTCGTCACCCAGACGGACATCGTGAAAGCCATCGCCCGCCTCATTGAGTTCTATAAGCACGAGAGCTGTGGCCAGTGTACCCCATGCCGTGAGGGTGAGCATCGGGCAGGTTGGGGGCTTGCTTGCTGTGGCTTCATTTAACCTCCTCCCCACCACGTGGCCTGCAGCCCTCAAGCGCCGCCCCACATCCTGGCTGGGGAGATCATCAGGCCCTCTCTTGTGGCTGTGGCTGCAGGTGTGGACTGGATGAACAAGGTGATGGCACGTTTCGTGAGGGGGGATGCCCGGCCGGCCGAGATCGACTCCCTGTGGGAGATCAGCAAGCAGATAGAAGGCCATACGATTTGTGCTCTGGGTGACGGGGCCGCCTGGCCTGTGCAGGTATTCACCACCCTTCTGCGTAGCACGGAGGGTGGGTGGCATCAAGGGCCCAGGGTGTTGGGGGATTTTTGGACTCTGTTTCACATGGTCCCCCCACCGACCCCAGGGTCTGATCCGCCACTTTCGGCCGGAGCTCGAGGAGCGGATGCAGCGGTTTGCCCAGCAGCATCAGGCCCGGCAGGCTGCCTCTTAGCCCACCACCCTGGCCTGCTGTCCTGCGTCTATCCATGTGGAATGCTGGACAATAAAGCGAGTGCTGCCCACCCTCCAGCTGCCGCTGCTGTGACTGTGC
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Task1_train_16144
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A change on Chromosome 11 affects gene NDUFV1 (NADH:ubiquinone oxidoreductase core subunit V1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Mitochondrial complex 1 deficiency, nuclear type 4
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TTTCCCAGCCTTTGTGAACCTTAGCTTCCTTTTTGTAAATAGGTACAGTGATATCATGCAAGGATTAAAGAGATAATGTTCATACAGCTTTTGGCCTGTATGCTGGTTGGCACATAAAGCAAATGATAAATGTCACCTGCTTTACCTCCTTTTGATGGTAGAGCTTGAGGAATGCTCTTTGTCACCAAGAGTAGAATCTGGCTCTCAGGGGCAGACACAAGGAGAGATGTTTGGATGAGCTGAATGAAGACCTTTCTTGTGGTCATAGCCACCCAAAGACAGAATAGGCAGTGAGCTCCCTGTCATTGGTGGTGAGCAAGCAGAGCCCCTGGGACATGTTGGGAGGGCAGTAAAGGATTGGCTGTCAGAGGAGACATCTTTGAGGCCTCCCTGGGTGGAGTGGGGTGGCATGGAGTTGAAGACCCAGTCCTGATGGCCCTGTAGCCTGTCTGACCTGTGGGCCCCTGCAGGCCCAAGTATCTGGTGGTGAACGCAGACGAGGGGGAGCCGGGCACCTGCAAGGACCGGGAGATCTTACGCCATGATCCTCACAAGCTGCTGGAAGGCTGCCTGGTGGGGGGCCGGGCCATGGGCGCCCGCGCTGCCTATATCTACATCCGAGGGGAATTCTACAATGAGGCCTCCAATCTGCAGGTGGGTAGGGAGAGATGTAGACAGATGAGAAGGTGTTCAGTGTGCACTCACACACCCCTCACCCAGCACAGTTGTTCTGAGGTGTTAGTACCTGGTCTGTCAGTGGTTGAACTGGGGGAGTGGTGGCCAGTCCTGCATGCATCCCAAATGGGACTTGGCTCCCAAAGCCTCCTTCCAGGGCTCCTAATGCTGCTGGTGTAAATTTTTTTTTTTTGCTTCAAAAATATAGTATTTTTTATAAAACAAGTAGCAAGAAGAAAAAACCTAAGTGGAACTATGTGTTTAGCAAGAGAGCGGAATAATTATGAATATAAACAATTCCTATTTGGAGAAAATACATTATGTTCATTGCTTGGAACTATGAATAATACTTATATCTGTAGGAAATATAGAAAAATAAAATAGGTTAAGGCAATAAGGATATAGGCAATTACATTTTTATTTTAATTTTATAAGGACTTTTATTTTTCCTTTACAGACTAGGGTAGTTAGGAGACCTGATAGTAGCTACTTCGTTTTTATTTTCCTGGCAGCAAAGCAGCTTACTTATGTGTTCCTTCTTGCTTATCTGTTCCAGATCATAGTCAAGTTTTCCAATTCGTTTTACTAAGCTAGCAAAATTTTTTATACCAGGAGCATTAGGAGCTTCACCGTGGGAGGCCTTCAAGGGCTTCATGACTCCTGAAGTTATAGGCTGACTCCTGGGCTGGGGGTGGGCTGGGAAACTCACACCTTTGTCCTGCAGGTGGCCATCCGAGAGGCCTATGAGGCAGGTCTGATTGGCAAGAATGCTTGTGGCTCTGGCTATGATTTTGACGTGTTTGTGGTGCGCGGGGCTGGGGCCTACATCTGTGGAGAGGAGACAGCGCTCATCGAGTCCATTGAGGGCAAGCAGGGCAAGCCCCGCCTGAAGCCCCCCTTCCCCGCAGACGTGGGTAAGGCCTGGCGTAACCCTGGGTCAGACTGTGTCCTGTGACACCCGGGATCTGGCTAGGCTCCCTTTGGATTGTTCTTAGGGATTTCTGAGTGGCTTCCCGGCTGGGGCCAGATAGAGAGTAGGCTGGCAACAACACACAGGCTCCCCCAGGGCCGCCTGCTGTCCCTCCTCCTGCCTCGGTCCCCTCCGCACCAGTGCTGCTCTGTGGCTCCACCTTCACAGTGCCTGTTCTGAGGCTAAGGGCATGGGGTGAACAAGGCAATGGGCATCTCTGGAGTTTGGGGTCCAGCAGGGATAAGAATGATAAGGGGATATTAGAGCAGGGGCTCTGCCATGGGTGCAGGACCCTGGGACACACCTCCCTGCCAGGAAACTTGCCCCACCCCCTAGCAGCCACCAGTTCTCTTCCCATTTCCCTGAAGGAGTGTTTGGCTGCCCCACAACTGTGGCCAACGTGGAGACAGTGGCAGTGTCCCCCACAATCTGCCGCCGTGGAGGTACCTGGTTTGCTGGCTTTGGCAGAGAACGCAACTCAGGCACCAAACTATTCAACATCTCTGGCCATGTCAACCACCCTTGCACTGTGGAGGAGGAGATGTCTGTGCCCTTGAAAGAACTGATTGAGAAGCATGCTGGTAAGGCCTGGGGCCAGCCAGGTGGTGGGGGGGTGCGCAGTGGGGGCAGGTGTCCACAAAGAGAGCCTGGGCGGGAGGGCTCAGGAGACGGGGCTGGGTCTAGGGGCTGACTAAGGGCCTGGGCTCAGGACTAGGCAGGTGTGCCGGCCCCAGCCCTGACCATGCATCCCTTTGGGGACCGACTTGGGGCCCCAGGGGGTGTCACGGGCGGCTGGGACAACCTCCTTGCTGTGATCCCTGGCGGCTCGTCTACCCCACTGATCCCCAAGTCTGTGTGTGAGACGGTGCTGATGGACTTCGATGCGCTGGTGCAGGCACAGACAGGCCTGGGCACAGCTGCGGTGATCGTCATGGACCGCTCGGTAAGGGTTCACACACCAGCCCTGGTCCCTGCCCTCCTGGTTGCTGTCTCCCTCCCTGGGCCTCCCAGAAAACCCTCTTGCCAGCACTCAGGTCTCAGTTCCTGCAGCCTGAGATAAAGCAAGGTGGAAGAGGAGGGAGGAAGGCTGCTCTGAGGAGAATACCCCGGAGTCTGGGCAGCACAGGGGGCCCAGGGAGGCTGGAGGAGGCCAGAACGCTGGGTGGGCTGGGAAGAGCTTCTGGAACTGGGGGAGGGGCTGCTGCTAGGGGGCTGAGGCCCAGGCTTCTGTCTGGCCGTGGGTGCCTGCTAATTGCCCCTCGTCACCCAGACGGACATCGTGAAAGCCATCGCCCGCCTCATTGAGTTCTATAAGCACGAGAGCTGTGGCCAGTGTACCCCATGCCGTGAGGGTGAGCATCGGGCAGGTTGGGGGCTTGCTTGCTGTGGCTTCATTTAACCTCCTCCCCACCACGTGGCCTGCAGCCCTCAAGCGCCGCCCCACATCCTGGCTGGGGAGATCATCAGGCCCTCTCTTGTGGCTGTGGCTGCAGGTGTGGACTGGATGAACAAGGTGATGGCACGTTTCGTGAGGGGGGATGCCCGGCCGGCCGAGATCGACTCCCTGTGGGAGATCAGCAAGCAGATAGAAGGCCATACGATTTGTGCTCTGGGTGACGGGGCCGCCTGGCCTGTGCAGGTATTCACCACCCTTCTGCGTAGCACGGAGGGTGGGTGGCATCAAGGGCCCAGGGTGTTGGGGGATTTTTGGACTCTGTTTCACATGGTCCCCCCACCGACCCCAGGGTCTGATCCGCCACTTTCGGCCGGAGCTCGAGGAGCGGATGCAGCGGTTTGCCCAGCAGCATCAGGCCCGGCAGGCTGCCTCTTAGCCCACCACCCTGGCCTGCTGTCCTGCGTCTATCCATGTGGAATGCTGGACAATAAAGCGAGTGCTGCCCACCCTCCAGCTGCCGCTGCTGTGACTGTGCTCTTTACCCTTTACCCAGCACACGATCCTCAAGGGTGGGAGGGGAGAACAGGGTCCAGTCTGGCCCATGGCCAGAGAAAGGACAGGGTCTCATCTGGCTTGAAGGAGATGTTTATTTCGGCTCCATGATTTGGGGTGGGGTGAATGTGAAAGCGGGGAGAGAGGAAACACCTCTCTGACTTGGGGCTGGGCATGAGGGTAAGGCAGCCCCAGCCGCCATCATTTTTGTGGGGACGTTTCAGGCAGCTGTAGTGGAGGGGCGGCAGGCAGGGCCCATGGGCTAGTCGCTGAGCTGGACAGGCTTGCTGTCCAGCGGGTGCCACAGCTTCAGGCGGTGGTCACTGTGGCCCAGGCACTCAAGCCAGTGCCGCAGGCGCTCCCCACTGGCATGGCTGCCCAGCTGCACCCCGCCTGCCATGGGGGATGGGTCAGGAACCGCCAGGAGCCTACTGGGCCCCCACCCCAGCTCCTCATGTTCCCACTCACCAATGAAGTCATCAGCCGTGCCTAGGTCATAGTCC
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TTTCCCAGCCTTTGTGAACCTTAGCTTCCTTTTTGTAAATAGGTACAGTGATATCATGCAAGGATTAAAGAGATAATGTTCATACAGCTTTTGGCCTGTATGCTGGTTGGCACATAAAGCAAATGATAAATGTCACCTGCTTTACCTCCTTTTGATGGTAGAGCTTGAGGAATGCTCTTTGTCACCAAGAGTAGAATCTGGCTCTCAGGGGCAGACACAAGGAGAGATGTTTGGATGAGCTGAATGAAGACCTTTCTTGTGGTCATAGCCACCCAAAGACAGAATAGGCAGTGAGCTCCCTGTCATTGGTGGTGAGCAAGCAGAGCCCCTGGGACATGTTGGGAGGGCAGTAAAGGATTGGCTGTCAGAGGAGACATCTTTGAGGCCTCCCTGGGTGGAGTGGGGTGGCATGGAGTTGAAGACCCAGTCCTGATGGCCCTGTAGCCTGTCTGACCTGTGGGCCCCTGCAGGCCCAAGTATCTGGTGGTGAACGCAGACGAGGGGGAGCCGGGCACCTGCAAGGACCGGGAGATCTTACGCCATGATCCTCACAAGCTGCTGGAAGGCTGCCTGGTGGGGGGCCGGGCCATGGGCGCCCGCGCTGCCTATATCTACATCCGAGGGGAATTCTACAATGAGGCCTCCAATCTGCAGGTGGGTAGGGAGAGATGTAGACAGATGAGAAGGTGTTCAGTGTGCACTCACACACCCCTCACCCAGCACAGTTGTTCTGAGGTGTTAGTACCTGGTCTGTCAGTGGTTGAACTGGGGGAGTGGTGGCCAGTCCTGCATGCATCCCAAATGGGACTTGGCTCCCAAAGCCTCCTTCCAGGGCTCCTAATGCTGCTGGTGTAAATTTTTTTTTTTTGCTTCAAAAATATAGTATTTTTTATAAAACAAGTAGCAAGAAGAAAAAACCTAAGTGGAACTATGTGTTTAGCAAGAGAGCGGAATAATTATGAATATAAACAATTCCTATTTGGAGAAAATACATTATGTTCATTGCTTGGAACTATGAATAATACTTATATCTGTAGGAAATATAGAAAAATAAAATAGGTTAAGGCAATAAGGATATAGGCAATTACATTTTTATTTTAATTTTATAAGGACTTTTATTTTTCCTTTACAGACTAGGGTAGTTAGGAGACCTGATAGTAGCTACTTCGTTTTTATTTTCCTGGCAGCAAAGCAGCTTACTTATGTGTTCCTTCTTGCTTATCTGTTCCAGATCATAGTCAAGTTTTCCAATTCGTTTTACTAAGCTAGCAAAATTTTTTATACCAGGAGCATTAGGAGCTTCACCGTGGGAGGCCTTCAAGGGCTTCATGACTCCTGAAGTTATAGGCTGACTCCTGGGCTGGGGGTGGGCTGGGAAACTCACACCTTTGTCCTGCAGGTGGCCATCCGAGAGGCCTATGAGGCAGGTCTGATTGGCAAGAATGCTTGTGGCTCTGGCTATGATTTTGACGTGTTTGTGGTGCGCGGGGCTGGGGCCTACATCTGTGGAGAGGAGACAGCGCTCATCGAGTCCATTGAGGGCAAGCAGGGCAAGCCCCGCCTGAAGCCCCCCTTCCCCGCAGACGTGGGTAAGGCCTGGCGTAACCCTGGGTCAGACTGTGTCCTGTGACACCCGGGATCTGGCTAGGCTCCCTTTGGATTGTTCTTAGGGATTTCTGAGTGGCTTCCCGGCTGGGGCCAGATAGAGAGTAGGCTGGCAACAACACACAGGCTCCCCCAGGGCCGCCTGCTGTCCCTCCTCCTGCCTCGGTCCCCTCCGCACCAGTGCTGCTCTGTGGCTCCACCTTCACAGTGCCTGTTCTGAGGCTAAGGGCATGGGGTGAACAAGGCAATGGGCATCTCTGGAGTTTGGGGTCCAGCAGGGATAAGAATGATAAGGGGATATTAGAGCAGGGGCTCTGCCATGGGTGCAGGACCCTGGGACACACCTCCCTGCCAGGAAACTTGCCCCACCCCCTAGCAGCCACCAGTTCTCTTCCCATTTCCCTGAAGGAGTGTTTGGCTGCCCCACAACTGTGGCCAACGTGAAGACAGTGGCAGTGTCCCCCACAATCTGCCGCCGTGGAGGTACCTGGTTTGCTGGCTTTGGCAGAGAACGCAACTCAGGCACCAAACTATTCAACATCTCTGGCCATGTCAACCACCCTTGCACTGTGGAGGAGGAGATGTCTGTGCCCTTGAAAGAACTGATTGAGAAGCATGCTGGTAAGGCCTGGGGCCAGCCAGGTGGTGGGGGGGTGCGCAGTGGGGGCAGGTGTCCACAAAGAGAGCCTGGGCGGGAGGGCTCAGGAGACGGGGCTGGGTCTAGGGGCTGACTAAGGGCCTGGGCTCAGGACTAGGCAGGTGTGCCGGCCCCAGCCCTGACCATGCATCCCTTTGGGGACCGACTTGGGGCCCCAGGGGGTGTCACGGGCGGCTGGGACAACCTCCTTGCTGTGATCCCTGGCGGCTCGTCTACCCCACTGATCCCCAAGTCTGTGTGTGAGACGGTGCTGATGGACTTCGATGCGCTGGTGCAGGCACAGACAGGCCTGGGCACAGCTGCGGTGATCGTCATGGACCGCTCGGTAAGGGTTCACACACCAGCCCTGGTCCCTGCCCTCCTGGTTGCTGTCTCCCTCCCTGGGCCTCCCAGAAAACCCTCTTGCCAGCACTCAGGTCTCAGTTCCTGCAGCCTGAGATAAAGCAAGGTGGAAGAGGAGGGAGGAAGGCTGCTCTGAGGAGAATACCCCGGAGTCTGGGCAGCACAGGGGGCCCAGGGAGGCTGGAGGAGGCCAGAACGCTGGGTGGGCTGGGAAGAGCTTCTGGAACTGGGGGAGGGGCTGCTGCTAGGGGGCTGAGGCCCAGGCTTCTGTCTGGCCGTGGGTGCCTGCTAATTGCCCCTCGTCACCCAGACGGACATCGTGAAAGCCATCGCCCGCCTCATTGAGTTCTATAAGCACGAGAGCTGTGGCCAGTGTACCCCATGCCGTGAGGGTGAGCATCGGGCAGGTTGGGGGCTTGCTTGCTGTGGCTTCATTTAACCTCCTCCCCACCACGTGGCCTGCAGCCCTCAAGCGCCGCCCCACATCCTGGCTGGGGAGATCATCAGGCCCTCTCTTGTGGCTGTGGCTGCAGGTGTGGACTGGATGAACAAGGTGATGGCACGTTTCGTGAGGGGGGATGCCCGGCCGGCCGAGATCGACTCCCTGTGGGAGATCAGCAAGCAGATAGAAGGCCATACGATTTGTGCTCTGGGTGACGGGGCCGCCTGGCCTGTGCAGGTATTCACCACCCTTCTGCGTAGCACGGAGGGTGGGTGGCATCAAGGGCCCAGGGTGTTGGGGGATTTTTGGACTCTGTTTCACATGGTCCCCCCACCGACCCCAGGGTCTGATCCGCCACTTTCGGCCGGAGCTCGAGGAGCGGATGCAGCGGTTTGCCCAGCAGCATCAGGCCCGGCAGGCTGCCTCTTAGCCCACCACCCTGGCCTGCTGTCCTGCGTCTATCCATGTGGAATGCTGGACAATAAAGCGAGTGCTGCCCACCCTCCAGCTGCCGCTGCTGTGACTGTGCTCTTTACCCTTTACCCAGCACACGATCCTCAAGGGTGGGAGGGGAGAACAGGGTCCAGTCTGGCCCATGGCCAGAGAAAGGACAGGGTCTCATCTGGCTTGAAGGAGATGTTTATTTCGGCTCCATGATTTGGGGTGGGGTGAATGTGAAAGCGGGGAGAGAGGAAACACCTCTCTGACTTGGGGCTGGGCATGAGGGTAAGGCAGCCCCAGCCGCCATCATTTTTGTGGGGACGTTTCAGGCAGCTGTAGTGGAGGGGCGGCAGGCAGGGCCCATGGGCTAGTCGCTGAGCTGGACAGGCTTGCTGTCCAGCGGGTGCCACAGCTTCAGGCGGTGGTCACTGTGGCCCAGGCACTCAAGCCAGTGCCGCAGGCGCTCCCCACTGGCATGGCTGCCCAGCTGCACCCCGCCTGCCATGGGGGATGGGTCAGGAACCGCCAGGAGCCTACTGGGCCCCCACCCCAGCTCCTCATGTTCCCACTCACCAATGAAGTCATCAGCCGTGCCTAGGTCATAGTCC
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Task1_train_16145
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Given this variant in gene NDUFV1 (NADH:ubiquinone oxidoreductase core subunit V1) on Chromosome 11, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Leigh syndrome
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TTTCCCAGCCTTTGTGAACCTTAGCTTCCTTTTTGTAAATAGGTACAGTGATATCATGCAAGGATTAAAGAGATAATGTTCATACAGCTTTTGGCCTGTATGCTGGTTGGCACATAAAGCAAATGATAAATGTCACCTGCTTTACCTCCTTTTGATGGTAGAGCTTGAGGAATGCTCTTTGTCACCAAGAGTAGAATCTGGCTCTCAGGGGCAGACACAAGGAGAGATGTTTGGATGAGCTGAATGAAGACCTTTCTTGTGGTCATAGCCACCCAAAGACAGAATAGGCAGTGAGCTCCCTGTCATTGGTGGTGAGCAAGCAGAGCCCCTGGGACATGTTGGGAGGGCAGTAAAGGATTGGCTGTCAGAGGAGACATCTTTGAGGCCTCCCTGGGTGGAGTGGGGTGGCATGGAGTTGAAGACCCAGTCCTGATGGCCCTGTAGCCTGTCTGACCTGTGGGCCCCTGCAGGCCCAAGTATCTGGTGGTGAACGCAGACGAGGGGGAGCCGGGCACCTGCAAGGACCGGGAGATCTTACGCCATGATCCTCACAAGCTGCTGGAAGGCTGCCTGGTGGGGGGCCGGGCCATGGGCGCCCGCGCTGCCTATATCTACATCCGAGGGGAATTCTACAATGAGGCCTCCAATCTGCAGGTGGGTAGGGAGAGATGTAGACAGATGAGAAGGTGTTCAGTGTGCACTCACACACCCCTCACCCAGCACAGTTGTTCTGAGGTGTTAGTACCTGGTCTGTCAGTGGTTGAACTGGGGGAGTGGTGGCCAGTCCTGCATGCATCCCAAATGGGACTTGGCTCCCAAAGCCTCCTTCCAGGGCTCCTAATGCTGCTGGTGTAAATTTTTTTTTTTTGCTTCAAAAATATAGTATTTTTTATAAAACAAGTAGCAAGAAGAAAAAACCTAAGTGGAACTATGTGTTTAGCAAGAGAGCGGAATAATTATGAATATAAACAATTCCTATTTGGAGAAAATACATTATGTTCATTGCTTGGAACTATGAATAATACTTATATCTGTAGGAAATATAGAAAAATAAAATAGGTTAAGGCAATAAGGATATAGGCAATTACATTTTTATTTTAATTTTATAAGGACTTTTATTTTTCCTTTACAGACTAGGGTAGTTAGGAGACCTGATAGTAGCTACTTCGTTTTTATTTTCCTGGCAGCAAAGCAGCTTACTTATGTGTTCCTTCTTGCTTATCTGTTCCAGATCATAGTCAAGTTTTCCAATTCGTTTTACTAAGCTAGCAAAATTTTTTATACCAGGAGCATTAGGAGCTTCACCGTGGGAGGCCTTCAAGGGCTTCATGACTCCTGAAGTTATAGGCTGACTCCTGGGCTGGGGGTGGGCTGGGAAACTCACACCTTTGTCCTGCAGGTGGCCATCCGAGAGGCCTATGAGGCAGGTCTGATTGGCAAGAATGCTTGTGGCTCTGGCTATGATTTTGACGTGTTTGTGGTGCGCGGGGCTGGGGCCTACATCTGTGGAGAGGAGACAGCGCTCATCGAGTCCATTGAGGGCAAGCAGGGCAAGCCCCGCCTGAAGCCCCCCTTCCCCGCAGACGTGGGTAAGGCCTGGCGTAACCCTGGGTCAGACTGTGTCCTGTGACACCCGGGATCTGGCTAGGCTCCCTTTGGATTGTTCTTAGGGATTTCTGAGTGGCTTCCCGGCTGGGGCCAGATAGAGAGTAGGCTGGCAACAACACACAGGCTCCCCCAGGGCCGCCTGCTGTCCCTCCTCCTGCCTCGGTCCCCTCCGCACCAGTGCTGCTCTGTGGCTCCACCTTCACAGTGCCTGTTCTGAGGCTAAGGGCATGGGGTGAACAAGGCAATGGGCATCTCTGGAGTTTGGGGTCCAGCAGGGATAAGAATGATAAGGGGATATTAGAGCAGGGGCTCTGCCATGGGTGCAGGACCCTGGGACACACCTCCCTGCCAGGAAACTTGCCCCACCCCCTAGCAGCCACCAGTTCTCTTCCCATTTCCCTGAAGGAGTGTTTGGCTGCCCCACAACTGTGGCCAACGTGGAGACAGTGGCAGTGTCCCCCACAATCTGCCGCCGTGGAGGTACCTGGTTTGCTGGCTTTGGCAGAGAACGCAACTCAGGCACCAAACTATTCAACATCTCTGGCCATGTCAACCACCCTTGCACTGTGGAGGAGGAGATGTCTGTGCCCTTGAAAGAACTGATTGAGAAGCATGCTGGTAAGGCCTGGGGCCAGCCAGGTGGTGGGGGGGTGCGCAGTGGGGGCAGGTGTCCACAAAGAGAGCCTGGGCGGGAGGGCTCAGGAGACGGGGCTGGGTCTAGGGGCTGACTAAGGGCCTGGGCTCAGGACTAGGCAGGTGTGCCGGCCCCAGCCCTGACCATGCATCCCTTTGGGGACCGACTTGGGGCCCCAGGGGGTGTCACGGGCGGCTGGGACAACCTCCTTGCTGTGATCCCTGGCGGCTCGTCTACCCCACTGATCCCCAAGTCTGTGTGTGAGACGGTGCTGATGGACTTCGATGCGCTGGTGCAGGCACAGACAGGCCTGGGCACAGCTGCGGTGATCGTCATGGACCGCTCGGTAAGGGTTCACACACCAGCCCTGGTCCCTGCCCTCCTGGTTGCTGTCTCCCTCCCTGGGCCTCCCAGAAAACCCTCTTGCCAGCACTCAGGTCTCAGTTCCTGCAGCCTGAGATAAAGCAAGGTGGAAGAGGAGGGAGGAAGGCTGCTCTGAGGAGAATACCCCGGAGTCTGGGCAGCACAGGGGGCCCAGGGAGGCTGGAGGAGGCCAGAACGCTGGGTGGGCTGGGAAGAGCTTCTGGAACTGGGGGAGGGGCTGCTGCTAGGGGGCTGAGGCCCAGGCTTCTGTCTGGCCGTGGGTGCCTGCTAATTGCCCCTCGTCACCCAGACGGACATCGTGAAAGCCATCGCCCGCCTCATTGAGTTCTATAAGCACGAGAGCTGTGGCCAGTGTACCCCATGCCGTGAGGGTGAGCATCGGGCAGGTTGGGGGCTTGCTTGCTGTGGCTTCATTTAACCTCCTCCCCACCACGTGGCCTGCAGCCCTCAAGCGCCGCCCCACATCCTGGCTGGGGAGATCATCAGGCCCTCTCTTGTGGCTGTGGCTGCAGGTGTGGACTGGATGAACAAGGTGATGGCACGTTTCGTGAGGGGGGATGCCCGGCCGGCCGAGATCGACTCCCTGTGGGAGATCAGCAAGCAGATAGAAGGCCATACGATTTGTGCTCTGGGTGACGGGGCCGCCTGGCCTGTGCAGGTATTCACCACCCTTCTGCGTAGCACGGAGGGTGGGTGGCATCAAGGGCCCAGGGTGTTGGGGGATTTTTGGACTCTGTTTCACATGGTCCCCCCACCGACCCCAGGGTCTGATCCGCCACTTTCGGCCGGAGCTCGAGGAGCGGATGCAGCGGTTTGCCCAGCAGCATCAGGCCCGGCAGGCTGCCTCTTAGCCCACCACCCTGGCCTGCTGTCCTGCGTCTATCCATGTGGAATGCTGGACAATAAAGCGAGTGCTGCCCACCCTCCAGCTGCCGCTGCTGTGACTGTGCTCTTTACCCTTTACCCAGCACACGATCCTCAAGGGTGGGAGGGGAGAACAGGGTCCAGTCTGGCCCATGGCCAGAGAAAGGACAGGGTCTCATCTGGCTTGAAGGAGATGTTTATTTCGGCTCCATGATTTGGGGTGGGGTGAATGTGAAAGCGGGGAGAGAGGAAACACCTCTCTGACTTGGGGCTGGGCATGAGGGTAAGGCAGCCCCAGCCGCCATCATTTTTGTGGGGACGTTTCAGGCAGCTGTAGTGGAGGGGCGGCAGGCAGGGCCCATGGGCTAGTCGCTGAGCTGGACAGGCTTGCTGTCCAGCGGGTGCCACAGCTTCAGGCGGTGGTCACTGTGGCCCAGGCACTCAAGCCAGTGCCGCAGGCGCTCCCCACTGGCATGGCTGCCCAGCTGCACCCCGCCTGCCATGGGGGATGGGTCAGGAACCGCCAGGAGCCTACTGGGCCCCCACCCCAGCTCCTCATGTTCCCACTCACCAATGAAGTCATCAGCCGTGCCTAGGTCATAGTCC
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TTTCCCAGCCTTTGTGAACCTTAGCTTCCTTTTTGTAAATAGGTACAGTGATATCATGCAAGGATTAAAGAGATAATGTTCATACAGCTTTTGGCCTGTATGCTGGTTGGCACATAAAGCAAATGATAAATGTCACCTGCTTTACCTCCTTTTGATGGTAGAGCTTGAGGAATGCTCTTTGTCACCAAGAGTAGAATCTGGCTCTCAGGGGCAGACACAAGGAGAGATGTTTGGATGAGCTGAATGAAGACCTTTCTTGTGGTCATAGCCACCCAAAGACAGAATAGGCAGTGAGCTCCCTGTCATTGGTGGTGAGCAAGCAGAGCCCCTGGGACATGTTGGGAGGGCAGTAAAGGATTGGCTGTCAGAGGAGACATCTTTGAGGCCTCCCTGGGTGGAGTGGGGTGGCATGGAGTTGAAGACCCAGTCCTGATGGCCCTGTAGCCTGTCTGACCTGTGGGCCCCTGCAGGCCCAAGTATCTGGTGGTGAACGCAGACGAGGGGGAGCCGGGCACCTGCAAGGACCGGGAGATCTTACGCCATGATCCTCACAAGCTGCTGGAAGGCTGCCTGGTGGGGGGCCGGGCCATGGGCGCCCGCGCTGCCTATATCTACATCCGAGGGGAATTCTACAATGAGGCCTCCAATCTGCAGGTGGGTAGGGAGAGATGTAGACAGATGAGAAGGTGTTCAGTGTGCACTCACACACCCCTCACCCAGCACAGTTGTTCTGAGGTGTTAGTACCTGGTCTGTCAGTGGTTGAACTGGGGGAGTGGTGGCCAGTCCTGCATGCATCCCAAATGGGACTTGGCTCCCAAAGCCTCCTTCCAGGGCTCCTAATGCTGCTGGTGTAAATTTTTTTTTTTTGCTTCAAAAATATAGTATTTTTTATAAAACAAGTAGCAAGAAGAAAAAACCTAAGTGGAACTATGTGTTTAGCAAGAGAGCGGAATAATTATGAATATAAACAATTCCTATTTGGAGAAAATACATTATGTTCATTGCTTGGAACTATGAATAATACTTATATCTGTAGGAAATATAGAAAAATAAAATAGGTTAAGGCAATAAGGATATAGGCAATTACATTTTTATTTTAATTTTATAAGGACTTTTATTTTTCCTTTACAGACTAGGGTAGTTAGGAGACCTGATAGTAGCTACTTCGTTTTTATTTTCCTGGCAGCAAAGCAGCTTACTTATGTGTTCCTTCTTGCTTATCTGTTCCAGATCATAGTCAAGTTTTCCAATTCGTTTTACTAAGCTAGCAAAATTTTTTATACCAGGAGCATTAGGAGCTTCACCGTGGGAGGCCTTCAAGGGCTTCATGACTCCTGAAGTTATAGGCTGACTCCTGGGCTGGGGGTGGGCTGGGAAACTCACACCTTTGTCCTGCAGGTGGCCATCCGAGAGGCCTATGAGGCAGGTCTGATTGGCAAGAATGCTTGTGGCTCTGGCTATGATTTTGACGTGTTTGTGGTGCGCGGGGCTGGGGCCTACATCTGTGGAGAGGAGACAGCGCTCATCGAGTCCATTGAGGGCAAGCAGGGCAAGCCCCGCCTGAAGCCCCCCTTCCCCGCAGACGTGGGTAAGGCCTGGCGTAACCCTGGGTCAGACTGTGTCCTGTGACACCCGGGATCTGGCTAGGCTCCCTTTGGATTGTTCTTAGGGATTTCTGAGTGGCTTCCCGGCTGGGGCCAGATAGAGAGTAGGCTGGCAACAACACACAGGCTCCCCCAGGGCCGCCTGCTGTCCCTCCTCCTGCCTCGGTCCCCTCCGCACCAGTGCTGCTCTGTGGCTCCACCTTCACAGTGCCTGTTCTGAGGCTAAGGGCATGGGGTGAACAAGGCAATGGGCATCTCTGGAGTTTGGGGTCCAGCAGGGATAAGAATGATAAGGGGATATTAGAGCAGGGGCTCTGCCATGGGTGCAGGACCCTGGGACACACCTCCCTGCCAGGAAACTTGCCCCACCCCCTAGCAGCCACCAGTTCTCTTCCCATTTCCCTGAAGGAGTGTTTGGCTGCCCCACAACTGTGGCCAACGTGAAGACAGTGGCAGTGTCCCCCACAATCTGCCGCCGTGGAGGTACCTGGTTTGCTGGCTTTGGCAGAGAACGCAACTCAGGCACCAAACTATTCAACATCTCTGGCCATGTCAACCACCCTTGCACTGTGGAGGAGGAGATGTCTGTGCCCTTGAAAGAACTGATTGAGAAGCATGCTGGTAAGGCCTGGGGCCAGCCAGGTGGTGGGGGGGTGCGCAGTGGGGGCAGGTGTCCACAAAGAGAGCCTGGGCGGGAGGGCTCAGGAGACGGGGCTGGGTCTAGGGGCTGACTAAGGGCCTGGGCTCAGGACTAGGCAGGTGTGCCGGCCCCAGCCCTGACCATGCATCCCTTTGGGGACCGACTTGGGGCCCCAGGGGGTGTCACGGGCGGCTGGGACAACCTCCTTGCTGTGATCCCTGGCGGCTCGTCTACCCCACTGATCCCCAAGTCTGTGTGTGAGACGGTGCTGATGGACTTCGATGCGCTGGTGCAGGCACAGACAGGCCTGGGCACAGCTGCGGTGATCGTCATGGACCGCTCGGTAAGGGTTCACACACCAGCCCTGGTCCCTGCCCTCCTGGTTGCTGTCTCCCTCCCTGGGCCTCCCAGAAAACCCTCTTGCCAGCACTCAGGTCTCAGTTCCTGCAGCCTGAGATAAAGCAAGGTGGAAGAGGAGGGAGGAAGGCTGCTCTGAGGAGAATACCCCGGAGTCTGGGCAGCACAGGGGGCCCAGGGAGGCTGGAGGAGGCCAGAACGCTGGGTGGGCTGGGAAGAGCTTCTGGAACTGGGGGAGGGGCTGCTGCTAGGGGGCTGAGGCCCAGGCTTCTGTCTGGCCGTGGGTGCCTGCTAATTGCCCCTCGTCACCCAGACGGACATCGTGAAAGCCATCGCCCGCCTCATTGAGTTCTATAAGCACGAGAGCTGTGGCCAGTGTACCCCATGCCGTGAGGGTGAGCATCGGGCAGGTTGGGGGCTTGCTTGCTGTGGCTTCATTTAACCTCCTCCCCACCACGTGGCCTGCAGCCCTCAAGCGCCGCCCCACATCCTGGCTGGGGAGATCATCAGGCCCTCTCTTGTGGCTGTGGCTGCAGGTGTGGACTGGATGAACAAGGTGATGGCACGTTTCGTGAGGGGGGATGCCCGGCCGGCCGAGATCGACTCCCTGTGGGAGATCAGCAAGCAGATAGAAGGCCATACGATTTGTGCTCTGGGTGACGGGGCCGCCTGGCCTGTGCAGGTATTCACCACCCTTCTGCGTAGCACGGAGGGTGGGTGGCATCAAGGGCCCAGGGTGTTGGGGGATTTTTGGACTCTGTTTCACATGGTCCCCCCACCGACCCCAGGGTCTGATCCGCCACTTTCGGCCGGAGCTCGAGGAGCGGATGCAGCGGTTTGCCCAGCAGCATCAGGCCCGGCAGGCTGCCTCTTAGCCCACCACCCTGGCCTGCTGTCCTGCGTCTATCCATGTGGAATGCTGGACAATAAAGCGAGTGCTGCCCACCCTCCAGCTGCCGCTGCTGTGACTGTGCTCTTTACCCTTTACCCAGCACACGATCCTCAAGGGTGGGAGGGGAGAACAGGGTCCAGTCTGGCCCATGGCCAGAGAAAGGACAGGGTCTCATCTGGCTTGAAGGAGATGTTTATTTCGGCTCCATGATTTGGGGTGGGGTGAATGTGAAAGCGGGGAGAGAGGAAACACCTCTCTGACTTGGGGCTGGGCATGAGGGTAAGGCAGCCCCAGCCGCCATCATTTTTGTGGGGACGTTTCAGGCAGCTGTAGTGGAGGGGCGGCAGGCAGGGCCCATGGGCTAGTCGCTGAGCTGGACAGGCTTGCTGTCCAGCGGGTGCCACAGCTTCAGGCGGTGGTCACTGTGGCCCAGGCACTCAAGCCAGTGCCGCAGGCGCTCCCCACTGGCATGGCTGCCCAGCTGCACCCCGCCTGCCATGGGGGATGGGTCAGGAACCGCCAGGAGCCTACTGGGCCCCCACCCCAGCTCCTCATGTTCCCACTCACCAATGAAGTCATCAGCCGTGCCTAGGTCATAGTCC
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Task1_train_16146
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Here is a variant affecting LOC126861242, NDUFV1 (CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:67379204-67380403| NADH:ubiquinone oxidoreductase core subunit V1) on Chromosome 11. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; not provided
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CTAAGTGGAACTATGTGTTTAGCAAGAGAGCGGAATAATTATGAATATAAACAATTCCTATTTGGAGAAAATACATTATGTTCATTGCTTGGAACTATGAATAATACTTATATCTGTAGGAAATATAGAAAAATAAAATAGGTTAAGGCAATAAGGATATAGGCAATTACATTTTTATTTTAATTTTATAAGGACTTTTATTTTTCCTTTACAGACTAGGGTAGTTAGGAGACCTGATAGTAGCTACTTCGTTTTTATTTTCCTGGCAGCAAAGCAGCTTACTTATGTGTTCCTTCTTGCTTATCTGTTCCAGATCATAGTCAAGTTTTCCAATTCGTTTTACTAAGCTAGCAAAATTTTTTATACCAGGAGCATTAGGAGCTTCACCGTGGGAGGCCTTCAAGGGCTTCATGACTCCTGAAGTTATAGGCTGACTCCTGGGCTGGGGGTGGGCTGGGAAACTCACACCTTTGTCCTGCAGGTGGCCATCCGAGAGGCCTATGAGGCAGGTCTGATTGGCAAGAATGCTTGTGGCTCTGGCTATGATTTTGACGTGTTTGTGGTGCGCGGGGCTGGGGCCTACATCTGTGGAGAGGAGACAGCGCTCATCGAGTCCATTGAGGGCAAGCAGGGCAAGCCCCGCCTGAAGCCCCCCTTCCCCGCAGACGTGGGTAAGGCCTGGCGTAACCCTGGGTCAGACTGTGTCCTGTGACACCCGGGATCTGGCTAGGCTCCCTTTGGATTGTTCTTAGGGATTTCTGAGTGGCTTCCCGGCTGGGGCCAGATAGAGAGTAGGCTGGCAACAACACACAGGCTCCCCCAGGGCCGCCTGCTGTCCCTCCTCCTGCCTCGGTCCCCTCCGCACCAGTGCTGCTCTGTGGCTCCACCTTCACAGTGCCTGTTCTGAGGCTAAGGGCATGGGGTGAACAAGGCAATGGGCATCTCTGGAGTTTGGGGTCCAGCAGGGATAAGAATGATAAGGGGATATTAGAGCAGGGGCTCTGCCATGGGTGCAGGACCCTGGGACACACCTCCCTGCCAGGAAACTTGCCCCACCCCCTAGCAGCCACCAGTTCTCTTCCCATTTCCCTGAAGGAGTGTTTGGCTGCCCCACAACTGTGGCCAACGTGGAGACAGTGGCAGTGTCCCCCACAATCTGCCGCCGTGGAGGTACCTGGTTTGCTGGCTTTGGCAGAGAACGCAACTCAGGCACCAAACTATTCAACATCTCTGGCCATGTCAACCACCCTTGCACTGTGGAGGAGGAGATGTCTGTGCCCTTGAAAGAACTGATTGAGAAGCATGCTGGTAAGGCCTGGGGCCAGCCAGGTGGTGGGGGGGTGCGCAGTGGGGGCAGGTGTCCACAAAGAGAGCCTGGGCGGGAGGGCTCAGGAGACGGGGCTGGGTCTAGGGGCTGACTAAGGGCCTGGGCTCAGGACTAGGCAGGTGTGCCGGCCCCAGCCCTGACCATGCATCCCTTTGGGGACCGACTTGGGGCCCCAGGGGGTGTCACGGGCGGCTGGGACAACCTCCTTGCTGTGATCCCTGGCGGCTCGTCTACCCCACTGATCCCCAAGTCTGTGTGTGAGACGGTGCTGATGGACTTCGATGCGCTGGTGCAGGCACAGACAGGCCTGGGCACAGCTGCGGTGATCGTCATGGACCGCTCGGTAAGGGTTCACACACCAGCCCTGGTCCCTGCCCTCCTGGTTGCTGTCTCCCTCCCTGGGCCTCCCAGAAAACCCTCTTGCCAGCACTCAGGTCTCAGTTCCTGCAGCCTGAGATAAAGCAAGGTGGAAGAGGAGGGAGGAAGGCTGCTCTGAGGAGAATACCCCGGAGTCTGGGCAGCACAGGGGGCCCAGGGAGGCTGGAGGAGGCCAGAACGCTGGGTGGGCTGGGAAGAGCTTCTGGAACTGGGGGAGGGGCTGCTGCTAGGGGGCTGAGGCCCAGGCTTCTGTCTGGCCGTGGGTGCCTGCTAATTGCCCCTCGTCACCCAGACGGACATCGTGAAAGCCATCGCCCGCCTCATTGAGTTCTATAAGCACGAGAGCTGTGGCCAGTGTACCCCATGCCGTGAGGGTGAGCATCGGGCAGGTTGGGGGCTTGCTTGCTGTGGCTTCATTTAACCTCCTCCCCACCACGTGGCCTGCAGCCCTCAAGCGCCGCCCCACATCCTGGCTGGGGAGATCATCAGGCCCTCTCTTGTGGCTGTGGCTGCAGGTGTGGACTGGATGAACAAGGTGATGGCACGTTTCGTGAGGGGGGATGCCCGGCCGGCCGAGATCGACTCCCTGTGGGAGATCAGCAAGCAGATAGAAGGCCATACGATTTGTGCTCTGGGTGACGGGGCCGCCTGGCCTGTGCAGGTATTCACCACCCTTCTGCGTAGCACGGAGGGTGGGTGGCATCAAGGGCCCAGGGTGTTGGGGGATTTTTGGACTCTGTTTCACATGGTCCCCCCACCGACCCCAGGGTCTGATCCGCCACTTTCGGCCGGAGCTCGAGGAGCGGATGCAGCGGTTTGCCCAGCAGCATCAGGCCCGGCAGGCTGCCTCTTAGCCCACCACCCTGGCCTGCTGTCCTGCGTCTATCCATGTGGAATGCTGGACAATAAAGCGAGTGCTGCCCACCCTCCAGCTGCCGCTGCTGTGACTGTGCTCTTTACCCTTTACCCAGCACACGATCCTCAAGGGTGGGAGGGGAGAACAGGGTCCAGTCTGGCCCATGGCCAGAGAAAGGACAGGGTCTCATCTGGCTTGAAGGAGATGTTTATTTCGGCTCCATGATTTGGGGTGGGGTGAATGTGAAAGCGGGGAGAGAGGAAACACCTCTCTGACTTGGGGCTGGGCATGAGGGTAAGGCAGCCCCAGCCGCCATCATTTTTGTGGGGACGTTTCAGGCAGCTGTAGTGGAGGGGCGGCAGGCAGGGCCCATGGGCTAGTCGCTGAGCTGGACAGGCTTGCTGTCCAGCGGGTGCCACAGCTTCAGGCGGTGGTCACTGTGGCCCAGGCACTCAAGCCAGTGCCGCAGGCGCTCCCCACTGGCATGGCTGCCCAGCTGCACCCCGCCTGCCATGGGGGATGGGTCAGGAACCGCCAGGAGCCTACTGGGCCCCCACCCCAGCTCCTCATGTTCCCACTCACCAATGAAGTCATCAGCCGTGCCTAGGTCATAGTCCCACACAGACACCAGCAGCGTCTTCTGGGCCAGCTCCTCCCGTGGGCCTGAGTAAAAGAATTCCTGCAGGGAGAAGGGCAGAGAGGCGGGAAGGAGGCAGCCTCGGCTCTCCCACAGCTTAAGAAGCAGGCCACGGTAGGGTAGTGGCTCAGCATGTCAAGGCCAGGGTTGGCTGGGACCTGCCTGGCCCTGGCTCACCTCATTGAACTCGGGGTTCAGGGTCTTCCTGTGAACACTGGTTTTGAATTTAGATTTCTTCCCTGCATTTGGATGCAGGAAACTGATCGGGGAAGATTGGCGGGTTAGGTGTGGCCCTGGAGAGGTGAGGAGTCACCGCCTTATCCTCACCTCCCGCCTGCCTACCCCAGTTCACTCACAGGCGCACGAAGGGGTCCGAGTAACCATTGGCATCCATGGGGGCCAGGTGGGCGCAGCGCAGCACACCTACCAGCAAGCCACCCTGCTGAGAGCTGTAGCACAGTGACAGTAGGACGTGCCCACATTCCTCCCAGGCCACCTCTGTCTCCACCTCCTCCTGCAGGTGTAGGCTGAGGTCAGCCCCAATCCAGTCCAAAGCCCACCCCCTTTAGCCTCCGTGCTCTGGGCAGGAAAGCTCAACCTGGCCCCAAAGAAATCGGGGGCAACGACTTCATTTCCAATACAGCCACTTGCCCAGTGCCATGGAAGTGGCCCTATGGGTCAGCTGTACCCTCCAGGGCCTGACCAAAGGCGAGGCTTGCTGACCACATGACCAGTCAGATACGTCTGTCATGGAGGGGAAGCGAACTGGCTGACATGCCAGTAGCTCCCTAAGTGGCCTCCCATCCAGTGTGTGTAGCCACCCCTGTAGGCAAGCGGCTCTGAGAGGATGTTCACTTCCCAAGGAGAAGCAGATCTCTTCAAAACCCCACCCTCTTCA
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CTAAGTGGAACTATGTGTTTAGCAAGAGAGCGGAATAATTATGAATATAAACAATTCCTATTTGGAGAAAATACATTATGTTCATTGCTTGGAACTATGAATAATACTTATATCTGTAGGAAATATAGAAAAATAAAATAGGTTAAGGCAATAAGGATATAGGCAATTACATTTTTATTTTAATTTTATAAGGACTTTTATTTTTCCTTTACAGACTAGGGTAGTTAGGAGACCTGATAGTAGCTACTTCGTTTTTATTTTCCTGGCAGCAAAGCAGCTTACTTATGTGTTCCTTCTTGCTTATCTGTTCCAGATCATAGTCAAGTTTTCCAATTCGTTTTACTAAGCTAGCAAAATTTTTTATACCAGGAGCATTAGGAGCTTCACCGTGGGAGGCCTTCAAGGGCTTCATGACTCCTGAAGTTATAGGCTGACTCCTGGGCTGGGGGTGGGCTGGGAAACTCACACCTTTGTCCTGCAGGTGGCCATCCGAGAGGCCTATGAGGCAGGTCTGATTGGCAAGAATGCTTGTGGCTCTGGCTATGATTTTGACGTGTTTGTGGTGCGCGGGGCTGGGGCCTACATCTGTGGAGAGGAGACAGCGCTCATCGAGTCCATTGAGGGCAAGCAGGGCAAGCCCCGCCTGAAGCCCCCCTTCCCCGCAGACGTGGGTAAGGCCTGGCGTAACCCTGGGTCAGACTGTGTCCTGTGACACCCGGGATCTGGCTAGGCTCCCTTTGGATTGTTCTTAGGGATTTCTGAGTGGCTTCCCGGCTGGGGCCAGATAGAGAGTAGGCTGGCAACAACACACAGGCTCCCCCAGGGCCGCCTGCTGTCCCTCCTCCTGCCTCGGTCCCCTCCGCACCAGTGCTGCTCTGTGGCTCCACCTTCACAGTGCCTGTTCTGAGGCTAAGGGCATGGGGTGAACAAGGCAATGGGCATCTCTGGAGTTTGGGGTCCAGCAGGGATAAGAATGATAAGGGGATATTAGAGCAGGGGCTCTGCCATGGGTGCAGGACCCTGGGACACACCTCCCTGCCAGGAAACTTGCCCCACCCCCTAGCAGCCACCAGTTCTCTTCCCATTTCCCTGAAGGAGTGTTTGGCTGCCCCACAACTGTGGCCAACGTGGAGACAGTGGCAGTGTCCCCCACAATCTGCCGCCGTGGAGGTACCTGGTTTGCTGGCTTTGGCAGAGAACGCAACTCAGGCACCAAACTATTCAACATCTCTGGCCATGTCAACCACCCTTGCACTGTGGAGGAGGAGATGTCTGTGCCCTTGAAAGAACTGATTGAGAAGCATGCTGGTAAGGCCTGGGGCCAGCCAGGTGGTGGGGGGGTGCGCAGTGGGGGCAGGTGTCCACAAAGAGAGCCTGGGCGGGAGGGCTCAGGAGACGGGGCTGGGTCTAGGGGCTGACTAAGGGCCTGGGCTCAGGACTAGGCAGGTGTGCCGGCCCCAGCCCTGACCATGCATCCCTTTGGGGACCGACTTGGGGCCCCAGGGGGTGTCACGGGCGGCTGGGACAACCTCCTTGCTGTGATCCCTGGCGGCTCGTCTACCCCACTGATCCCCAAGTCTGTGTGTGAGACGGTGCTGATGGACTTCGATGCGCTGGTGCAGGCACAGACAGGCCTGGGCACAGCTGCGGTGATCGTCATGGACCGCTCGGTAAGGGTTCACACACCAGCCCTGGTCCCTGCCCTCCTGGTTGCTGTCTCCCTCCCTGGGCCTCCCAGAAAACCCTCTTGCCAGCACTCAGGTCTCAGTTCCTGCAGCCTGAGATAAAGCAAGGTGGAAGAGGAGGGAGGAAGGCTGCTCTGAGGAGAATACCCCGGAGTCTGGGCAGCACAGGGGGCCCAGGGAGGCTGGAGGAGGCCAGAACGCTGGGTGGGCTGGGAAGAGCTTCTGGAACTGGGGGAGGGGCTGCTGCTAGGGGGCTGAGGCCCAGGCTTCTGTCTGGCCGTGGGTGCCTGCTAATTGCCCCTCGTCACCCAGACGGACATCGTGAAAGCCATCGCCCGCCTCATTGAGTTCTATAAGCACGAGCGCTGTGGCCAGTGTACCCCATGCCGTGAGGGTGAGCATCGGGCAGGTTGGGGGCTTGCTTGCTGTGGCTTCATTTAACCTCCTCCCCACCACGTGGCCTGCAGCCCTCAAGCGCCGCCCCACATCCTGGCTGGGGAGATCATCAGGCCCTCTCTTGTGGCTGTGGCTGCAGGTGTGGACTGGATGAACAAGGTGATGGCACGTTTCGTGAGGGGGGATGCCCGGCCGGCCGAGATCGACTCCCTGTGGGAGATCAGCAAGCAGATAGAAGGCCATACGATTTGTGCTCTGGGTGACGGGGCCGCCTGGCCTGTGCAGGTATTCACCACCCTTCTGCGTAGCACGGAGGGTGGGTGGCATCAAGGGCCCAGGGTGTTGGGGGATTTTTGGACTCTGTTTCACATGGTCCCCCCACCGACCCCAGGGTCTGATCCGCCACTTTCGGCCGGAGCTCGAGGAGCGGATGCAGCGGTTTGCCCAGCAGCATCAGGCCCGGCAGGCTGCCTCTTAGCCCACCACCCTGGCCTGCTGTCCTGCGTCTATCCATGTGGAATGCTGGACAATAAAGCGAGTGCTGCCCACCCTCCAGCTGCCGCTGCTGTGACTGTGCTCTTTACCCTTTACCCAGCACACGATCCTCAAGGGTGGGAGGGGAGAACAGGGTCCAGTCTGGCCCATGGCCAGAGAAAGGACAGGGTCTCATCTGGCTTGAAGGAGATGTTTATTTCGGCTCCATGATTTGGGGTGGGGTGAATGTGAAAGCGGGGAGAGAGGAAACACCTCTCTGACTTGGGGCTGGGCATGAGGGTAAGGCAGCCCCAGCCGCCATCATTTTTGTGGGGACGTTTCAGGCAGCTGTAGTGGAGGGGCGGCAGGCAGGGCCCATGGGCTAGTCGCTGAGCTGGACAGGCTTGCTGTCCAGCGGGTGCCACAGCTTCAGGCGGTGGTCACTGTGGCCCAGGCACTCAAGCCAGTGCCGCAGGCGCTCCCCACTGGCATGGCTGCCCAGCTGCACCCCGCCTGCCATGGGGGATGGGTCAGGAACCGCCAGGAGCCTACTGGGCCCCCACCCCAGCTCCTCATGTTCCCACTCACCAATGAAGTCATCAGCCGTGCCTAGGTCATAGTCCCACACAGACACCAGCAGCGTCTTCTGGGCCAGCTCCTCCCGTGGGCCTGAGTAAAAGAATTCCTGCAGGGAGAAGGGCAGAGAGGCGGGAAGGAGGCAGCCTCGGCTCTCCCACAGCTTAAGAAGCAGGCCACGGTAGGGTAGTGGCTCAGCATGTCAAGGCCAGGGTTGGCTGGGACCTGCCTGGCCCTGGCTCACCTCATTGAACTCGGGGTTCAGGGTCTTCCTGTGAACACTGGTTTTGAATTTAGATTTCTTCCCTGCATTTGGATGCAGGAAACTGATCGGGGAAGATTGGCGGGTTAGGTGTGGCCCTGGAGAGGTGAGGAGTCACCGCCTTATCCTCACCTCCCGCCTGCCTACCCCAGTTCACTCACAGGCGCACGAAGGGGTCCGAGTAACCATTGGCATCCATGGGGGCCAGGTGGGCGCAGCGCAGCACACCTACCAGCAAGCCACCCTGCTGAGAGCTGTAGCACAGTGACAGTAGGACGTGCCCACATTCCTCCCAGGCCACCTCTGTCTCCACCTCCTCCTGCAGGTGTAGGCTGAGGTCAGCCCCAATCCAGTCCAAAGCCCACCCCCTTTAGCCTCCGTGCTCTGGGCAGGAAAGCTCAACCTGGCCCCAAAGAAATCGGGGGCAACGACTTCATTTCCAATACAGCCACTTGCCCAGTGCCATGGAAGTGGCCCTATGGGTCAGCTGTACCCTCCAGGGCCTGACCAAAGGCGAGGCTTGCTGACCACATGACCAGTCAGATACGTCTGTCATGGAGGGGAAGCGAACTGGCTGACATGCCAGTAGCTCCCTAAGTGGCCTCCCATCCAGTGTGTGTAGCCACCCCTGTAGGCAAGCGGCTCTGAGAGGATGTTCACTTCCCAAGGAGAAGCAGATCTCTTCAAAACCCCACCCTCTTCA
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Task1_train_16147
|
Consider a variant on Chromosome 11 in gene LOC126861242, NDUFV1 (CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:67379204-67380403| NADH:ubiquinone oxidoreductase core subunit V1). Determine its clinical classification and disease relevance.
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Pathogenic; not provided
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GAGAGCGGAATAATTATGAATATAAACAATTCCTATTTGGAGAAAATACATTATGTTCATTGCTTGGAACTATGAATAATACTTATATCTGTAGGAAATATAGAAAAATAAAATAGGTTAAGGCAATAAGGATATAGGCAATTACATTTTTATTTTAATTTTATAAGGACTTTTATTTTTCCTTTACAGACTAGGGTAGTTAGGAGACCTGATAGTAGCTACTTCGTTTTTATTTTCCTGGCAGCAAAGCAGCTTACTTATGTGTTCCTTCTTGCTTATCTGTTCCAGATCATAGTCAAGTTTTCCAATTCGTTTTACTAAGCTAGCAAAATTTTTTATACCAGGAGCATTAGGAGCTTCACCGTGGGAGGCCTTCAAGGGCTTCATGACTCCTGAAGTTATAGGCTGACTCCTGGGCTGGGGGTGGGCTGGGAAACTCACACCTTTGTCCTGCAGGTGGCCATCCGAGAGGCCTATGAGGCAGGTCTGATTGGCAAGAATGCTTGTGGCTCTGGCTATGATTTTGACGTGTTTGTGGTGCGCGGGGCTGGGGCCTACATCTGTGGAGAGGAGACAGCGCTCATCGAGTCCATTGAGGGCAAGCAGGGCAAGCCCCGCCTGAAGCCCCCCTTCCCCGCAGACGTGGGTAAGGCCTGGCGTAACCCTGGGTCAGACTGTGTCCTGTGACACCCGGGATCTGGCTAGGCTCCCTTTGGATTGTTCTTAGGGATTTCTGAGTGGCTTCCCGGCTGGGGCCAGATAGAGAGTAGGCTGGCAACAACACACAGGCTCCCCCAGGGCCGCCTGCTGTCCCTCCTCCTGCCTCGGTCCCCTCCGCACCAGTGCTGCTCTGTGGCTCCACCTTCACAGTGCCTGTTCTGAGGCTAAGGGCATGGGGTGAACAAGGCAATGGGCATCTCTGGAGTTTGGGGTCCAGCAGGGATAAGAATGATAAGGGGATATTAGAGCAGGGGCTCTGCCATGGGTGCAGGACCCTGGGACACACCTCCCTGCCAGGAAACTTGCCCCACCCCCTAGCAGCCACCAGTTCTCTTCCCATTTCCCTGAAGGAGTGTTTGGCTGCCCCACAACTGTGGCCAACGTGGAGACAGTGGCAGTGTCCCCCACAATCTGCCGCCGTGGAGGTACCTGGTTTGCTGGCTTTGGCAGAGAACGCAACTCAGGCACCAAACTATTCAACATCTCTGGCCATGTCAACCACCCTTGCACTGTGGAGGAGGAGATGTCTGTGCCCTTGAAAGAACTGATTGAGAAGCATGCTGGTAAGGCCTGGGGCCAGCCAGGTGGTGGGGGGGTGCGCAGTGGGGGCAGGTGTCCACAAAGAGAGCCTGGGCGGGAGGGCTCAGGAGACGGGGCTGGGTCTAGGGGCTGACTAAGGGCCTGGGCTCAGGACTAGGCAGGTGTGCCGGCCCCAGCCCTGACCATGCATCCCTTTGGGGACCGACTTGGGGCCCCAGGGGGTGTCACGGGCGGCTGGGACAACCTCCTTGCTGTGATCCCTGGCGGCTCGTCTACCCCACTGATCCCCAAGTCTGTGTGTGAGACGGTGCTGATGGACTTCGATGCGCTGGTGCAGGCACAGACAGGCCTGGGCACAGCTGCGGTGATCGTCATGGACCGCTCGGTAAGGGTTCACACACCAGCCCTGGTCCCTGCCCTCCTGGTTGCTGTCTCCCTCCCTGGGCCTCCCAGAAAACCCTCTTGCCAGCACTCAGGTCTCAGTTCCTGCAGCCTGAGATAAAGCAAGGTGGAAGAGGAGGGAGGAAGGCTGCTCTGAGGAGAATACCCCGGAGTCTGGGCAGCACAGGGGGCCCAGGGAGGCTGGAGGAGGCCAGAACGCTGGGTGGGCTGGGAAGAGCTTCTGGAACTGGGGGAGGGGCTGCTGCTAGGGGGCTGAGGCCCAGGCTTCTGTCTGGCCGTGGGTGCCTGCTAATTGCCCCTCGTCACCCAGACGGACATCGTGAAAGCCATCGCCCGCCTCATTGAGTTCTATAAGCACGAGAGCTGTGGCCAGTGTACCCCATGCCGTGAGGGTGAGCATCGGGCAGGTTGGGGGCTTGCTTGCTGTGGCTTCATTTAACCTCCTCCCCACCACGTGGCCTGCAGCCCTCAAGCGCCGCCCCACATCCTGGCTGGGGAGATCATCAGGCCCTCTCTTGTGGCTGTGGCTGCAGGTGTGGACTGGATGAACAAGGTGATGGCACGTTTCGTGAGGGGGGATGCCCGGCCGGCCGAGATCGACTCCCTGTGGGAGATCAGCAAGCAGATAGAAGGCCATACGATTTGTGCTCTGGGTGACGGGGCCGCCTGGCCTGTGCAGGTATTCACCACCCTTCTGCGTAGCACGGAGGGTGGGTGGCATCAAGGGCCCAGGGTGTTGGGGGATTTTTGGACTCTGTTTCACATGGTCCCCCCACCGACCCCAGGGTCTGATCCGCCACTTTCGGCCGGAGCTCGAGGAGCGGATGCAGCGGTTTGCCCAGCAGCATCAGGCCCGGCAGGCTGCCTCTTAGCCCACCACCCTGGCCTGCTGTCCTGCGTCTATCCATGTGGAATGCTGGACAATAAAGCGAGTGCTGCCCACCCTCCAGCTGCCGCTGCTGTGACTGTGCTCTTTACCCTTTACCCAGCACACGATCCTCAAGGGTGGGAGGGGAGAACAGGGTCCAGTCTGGCCCATGGCCAGAGAAAGGACAGGGTCTCATCTGGCTTGAAGGAGATGTTTATTTCGGCTCCATGATTTGGGGTGGGGTGAATGTGAAAGCGGGGAGAGAGGAAACACCTCTCTGACTTGGGGCTGGGCATGAGGGTAAGGCAGCCCCAGCCGCCATCATTTTTGTGGGGACGTTTCAGGCAGCTGTAGTGGAGGGGCGGCAGGCAGGGCCCATGGGCTAGTCGCTGAGCTGGACAGGCTTGCTGTCCAGCGGGTGCCACAGCTTCAGGCGGTGGTCACTGTGGCCCAGGCACTCAAGCCAGTGCCGCAGGCGCTCCCCACTGGCATGGCTGCCCAGCTGCACCCCGCCTGCCATGGGGGATGGGTCAGGAACCGCCAGGAGCCTACTGGGCCCCCACCCCAGCTCCTCATGTTCCCACTCACCAATGAAGTCATCAGCCGTGCCTAGGTCATAGTCCCACACAGACACCAGCAGCGTCTTCTGGGCCAGCTCCTCCCGTGGGCCTGAGTAAAAGAATTCCTGCAGGGAGAAGGGCAGAGAGGCGGGAAGGAGGCAGCCTCGGCTCTCCCACAGCTTAAGAAGCAGGCCACGGTAGGGTAGTGGCTCAGCATGTCAAGGCCAGGGTTGGCTGGGACCTGCCTGGCCCTGGCTCACCTCATTGAACTCGGGGTTCAGGGTCTTCCTGTGAACACTGGTTTTGAATTTAGATTTCTTCCCTGCATTTGGATGCAGGAAACTGATCGGGGAAGATTGGCGGGTTAGGTGTGGCCCTGGAGAGGTGAGGAGTCACCGCCTTATCCTCACCTCCCGCCTGCCTACCCCAGTTCACTCACAGGCGCACGAAGGGGTCCGAGTAACCATTGGCATCCATGGGGGCCAGGTGGGCGCAGCGCAGCACACCTACCAGCAAGCCACCCTGCTGAGAGCTGTAGCACAGTGACAGTAGGACGTGCCCACATTCCTCCCAGGCCACCTCTGTCTCCACCTCCTCCTGCAGGTGTAGGCTGAGGTCAGCCCCAATCCAGTCCAAAGCCCACCCCCTTTAGCCTCCGTGCTCTGGGCAGGAAAGCTCAACCTGGCCCCAAAGAAATCGGGGGCAACGACTTCATTTCCAATACAGCCACTTGCCCAGTGCCATGGAAGTGGCCCTATGGGTCAGCTGTACCCTCCAGGGCCTGACCAAAGGCGAGGCTTGCTGACCACATGACCAGTCAGATACGTCTGTCATGGAGGGGAAGCGAACTGGCTGACATGCCAGTAGCTCCCTAAGTGGCCTCCCATCCAGTGTGTGTAGCCACCCCTGTAGGCAAGCGGCTCTGAGAGGATGTTCACTTCCCAAGGAGAAGCAGATCTCTTCAAAACCCCACCCTCTTCACCCCCTATTTCCCTGGGGACCAGAT
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GAGAGCGGAATAATTATGAATATAAACAATTCCTATTTGGAGAAAATACATTATGTTCATTGCTTGGAACTATGAATAATACTTATATCTGTAGGAAATATAGAAAAATAAAATAGGTTAAGGCAATAAGGATATAGGCAATTACATTTTTATTTTAATTTTATAAGGACTTTTATTTTTCCTTTACAGACTAGGGTAGTTAGGAGACCTGATAGTAGCTACTTCGTTTTTATTTTCCTGGCAGCAAAGCAGCTTACTTATGTGTTCCTTCTTGCTTATCTGTTCCAGATCATAGTCAAGTTTTCCAATTCGTTTTACTAAGCTAGCAAAATTTTTTATACCAGGAGCATTAGGAGCTTCACCGTGGGAGGCCTTCAAGGGCTTCATGACTCCTGAAGTTATAGGCTGACTCCTGGGCTGGGGGTGGGCTGGGAAACTCACACCTTTGTCCTGCAGGTGGCCATCCGAGAGGCCTATGAGGCAGGTCTGATTGGCAAGAATGCTTGTGGCTCTGGCTATGATTTTGACGTGTTTGTGGTGCGCGGGGCTGGGGCCTACATCTGTGGAGAGGAGACAGCGCTCATCGAGTCCATTGAGGGCAAGCAGGGCAAGCCCCGCCTGAAGCCCCCCTTCCCCGCAGACGTGGGTAAGGCCTGGCGTAACCCTGGGTCAGACTGTGTCCTGTGACACCCGGGATCTGGCTAGGCTCCCTTTGGATTGTTCTTAGGGATTTCTGAGTGGCTTCCCGGCTGGGGCCAGATAGAGAGTAGGCTGGCAACAACACACAGGCTCCCCCAGGGCCGCCTGCTGTCCCTCCTCCTGCCTCGGTCCCCTCCGCACCAGTGCTGCTCTGTGGCTCCACCTTCACAGTGCCTGTTCTGAGGCTAAGGGCATGGGGTGAACAAGGCAATGGGCATCTCTGGAGTTTGGGGTCCAGCAGGGATAAGAATGATAAGGGGATATTAGAGCAGGGGCTCTGCCATGGGTGCAGGACCCTGGGACACACCTCCCTGCCAGGAAACTTGCCCCACCCCCTAGCAGCCACCAGTTCTCTTCCCATTTCCCTGAAGGAGTGTTTGGCTGCCCCACAACTGTGGCCAACGTGGAGACAGTGGCAGTGTCCCCCACAATCTGCCGCCGTGGAGGTACCTGGTTTGCTGGCTTTGGCAGAGAACGCAACTCAGGCACCAAACTATTCAACATCTCTGGCCATGTCAACCACCCTTGCACTGTGGAGGAGGAGATGTCTGTGCCCTTGAAAGAACTGATTGAGAAGCATGCTGGTAAGGCCTGGGGCCAGCCAGGTGGTGGGGGGGTGCGCAGTGGGGGCAGGTGTCCACAAAGAGAGCCTGGGCGGGAGGGCTCAGGAGACGGGGCTGGGTCTAGGGGCTGACTAAGGGCCTGGGCTCAGGACTAGGCAGGTGTGCCGGCCCCAGCCCTGACCATGCATCCCTTTGGGGACCGACTTGGGGCCCCAGGGGGTGTCACGGGCGGCTGGGACAACCTCCTTGCTGTGATCCCTGGCGGCTCGTCTACCCCACTGATCCCCAAGTCTGTGTGTGAGACGGTGCTGATGGACTTCGATGCGCTGGTGCAGGCACAGACAGGCCTGGGCACAGCTGCGGTGATCGTCATGGACCGCTCGGTAAGGGTTCACACACCAGCCCTGGTCCCTGCCCTCCTGGTTGCTGTCTCCCTCCCTGGGCCTCCCAGAAAACCCTCTTGCCAGCACTCAGGTCTCAGTTCCTGCAGCCTGAGATAAAGCAAGGTGGAAGAGGAGGGAGGAAGGCTGCTCTGAGGAGAATACCCCGGAGTCTGGGCAGCACAGGGGGCCCAGGGAGGCTGGAGGAGGCCAGAACGCTGGGTGGGCTGGGAAGAGCTTCTGGAACTGGGGGAGGGGCTGCTGCTAGGGGGCTGAGGCCCAGGCTTCTGTCTGGCCGTGGGTGCCTGCTAATTGCCCCTCGTCACCCAGACGGACATCGTGAAAGCCATCGCCCGCCTCATTGAGTTCTATAAGCACGAGAGCTGTGGCCAGTGTACCCCATGCCTTGAGGGTGAGCATCGGGCAGGTTGGGGGCTTGCTTGCTGTGGCTTCATTTAACCTCCTCCCCACCACGTGGCCTGCAGCCCTCAAGCGCCGCCCCACATCCTGGCTGGGGAGATCATCAGGCCCTCTCTTGTGGCTGTGGCTGCAGGTGTGGACTGGATGAACAAGGTGATGGCACGTTTCGTGAGGGGGGATGCCCGGCCGGCCGAGATCGACTCCCTGTGGGAGATCAGCAAGCAGATAGAAGGCCATACGATTTGTGCTCTGGGTGACGGGGCCGCCTGGCCTGTGCAGGTATTCACCACCCTTCTGCGTAGCACGGAGGGTGGGTGGCATCAAGGGCCCAGGGTGTTGGGGGATTTTTGGACTCTGTTTCACATGGTCCCCCCACCGACCCCAGGGTCTGATCCGCCACTTTCGGCCGGAGCTCGAGGAGCGGATGCAGCGGTTTGCCCAGCAGCATCAGGCCCGGCAGGCTGCCTCTTAGCCCACCACCCTGGCCTGCTGTCCTGCGTCTATCCATGTGGAATGCTGGACAATAAAGCGAGTGCTGCCCACCCTCCAGCTGCCGCTGCTGTGACTGTGCTCTTTACCCTTTACCCAGCACACGATCCTCAAGGGTGGGAGGGGAGAACAGGGTCCAGTCTGGCCCATGGCCAGAGAAAGGACAGGGTCTCATCTGGCTTGAAGGAGATGTTTATTTCGGCTCCATGATTTGGGGTGGGGTGAATGTGAAAGCGGGGAGAGAGGAAACACCTCTCTGACTTGGGGCTGGGCATGAGGGTAAGGCAGCCCCAGCCGCCATCATTTTTGTGGGGACGTTTCAGGCAGCTGTAGTGGAGGGGCGGCAGGCAGGGCCCATGGGCTAGTCGCTGAGCTGGACAGGCTTGCTGTCCAGCGGGTGCCACAGCTTCAGGCGGTGGTCACTGTGGCCCAGGCACTCAAGCCAGTGCCGCAGGCGCTCCCCACTGGCATGGCTGCCCAGCTGCACCCCGCCTGCCATGGGGGATGGGTCAGGAACCGCCAGGAGCCTACTGGGCCCCCACCCCAGCTCCTCATGTTCCCACTCACCAATGAAGTCATCAGCCGTGCCTAGGTCATAGTCCCACACAGACACCAGCAGCGTCTTCTGGGCCAGCTCCTCCCGTGGGCCTGAGTAAAAGAATTCCTGCAGGGAGAAGGGCAGAGAGGCGGGAAGGAGGCAGCCTCGGCTCTCCCACAGCTTAAGAAGCAGGCCACGGTAGGGTAGTGGCTCAGCATGTCAAGGCCAGGGTTGGCTGGGACCTGCCTGGCCCTGGCTCACCTCATTGAACTCGGGGTTCAGGGTCTTCCTGTGAACACTGGTTTTGAATTTAGATTTCTTCCCTGCATTTGGATGCAGGAAACTGATCGGGGAAGATTGGCGGGTTAGGTGTGGCCCTGGAGAGGTGAGGAGTCACCGCCTTATCCTCACCTCCCGCCTGCCTACCCCAGTTCACTCACAGGCGCACGAAGGGGTCCGAGTAACCATTGGCATCCATGGGGGCCAGGTGGGCGCAGCGCAGCACACCTACCAGCAAGCCACCCTGCTGAGAGCTGTAGCACAGTGACAGTAGGACGTGCCCACATTCCTCCCAGGCCACCTCTGTCTCCACCTCCTCCTGCAGGTGTAGGCTGAGGTCAGCCCCAATCCAGTCCAAAGCCCACCCCCTTTAGCCTCCGTGCTCTGGGCAGGAAAGCTCAACCTGGCCCCAAAGAAATCGGGGGCAACGACTTCATTTCCAATACAGCCACTTGCCCAGTGCCATGGAAGTGGCCCTATGGGTCAGCTGTACCCTCCAGGGCCTGACCAAAGGCGAGGCTTGCTGACCACATGACCAGTCAGATACGTCTGTCATGGAGGGGAAGCGAACTGGCTGACATGCCAGTAGCTCCCTAAGTGGCCTCCCATCCAGTGTGTGTAGCCACCCCTGTAGGCAAGCGGCTCTGAGAGGATGTTCACTTCCCAAGGAGAAGCAGATCTCTTCAAAACCCCACCCTCTTCACCCCCTATTTCCCTGGGGACCAGAT
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Task1_train_16148
|
A mutation found in NDUFS8 (NADH:ubiquinone oxidoreductase core subunit S8) on Chromosome 11 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Mitochondrial complex 1 deficiency, nuclear type 2
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CACTGGGAAGGTGGGGAAGGTGCTGGGTTGGGTCCCTGGAACTGCAGTCAGTGATCCAAAGGAGTGGGCCTGTTAGGGGGTTCACAGGTCGTGGGATGAGCTCTTATGAGCGCCGGCTAAGTGCCGGGCTCTGGGGTGCCCTTGGCATGTACGGGCTCCCCTAATTCCCAAGACCAACCGCCCCCAACCCACTTCATAGGTGAGAAGACGGAGGTCAGGTCACATCATCTGCCCAAGGTCACGCGGCAGGCTGGGGGACAGTTCCAGGAGGGCCTTGAAGCTGGGGAAAGGAATGTGGTACCGAGGACTGTTCAGGCCTTGAAGAGTTTCCAGCAGGGCAGGGCTGGGTTCCGATCCTCGGCCCACCTCCTTATCGTGTGACTTCCGACAAGTCACTTTTTTATCTTTTTTTTGAGACAAGGTCTCACTCTGTCGCCCAGGTTGGAGGGCAGTGGTGCAGTCTGGGCTCACTGCAACTTCTGCCTCCTGGGTTCAAGCGATTCTCCTACCTCAACCTCCCGAGTAGCTGGGATTATAAGTGCCCACCACCACACCTGGCTAATTTCTGTATTTTTTGGTAGGGACGGGGTTCCACCATGTTAGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCAGCCCTAGCGAGTCACTCAACAAACTGAGTCCCAGCGCCTTATTTGTGCCTCCCTCGTGGAGTCCTTGTAAGGATAGGATGGCAGCGCTTTCCACCCCTGGGCACGGTTCCTGGGGGAGGAGAGCTAACAAAGTTCGCTCTCAGTGCATGCTGGCGGGGGCTGGTAATGTTGTTTTTGGTTAGATTTGGGGAGGATGAAGGGAGGAGCAGAAAGGTGGGAAACAGGATCTCTGGGAGGGAGAAAGGAAGGATGGATTTAAAAGGTTTCTTAGGTGAGGCAGAACTTGGGGTCCACAGAAACTGAATTGTAGCTCAGCCAAGCTGAATCAGATGGAAAGCTGGGAGGCGCTGGGAACAGGAAAGCCATCTGTGCCTCTGACAGCAATGGGGTGCGAGTAGAGGGCAAAGTGACACATGTCAGTGGAGACTTGGGATCCTTGCGGTGCCAGTCTCAGAAGAGGATGGTTCTTGGGCACACCCCACCCTCCATCCCTTTTTATGCCACCAGATGCGCTGCCTGACCACGCCTATGCTGCTGCGGGCCCTGGCCCAGGCTGCACGTGCAGGTAGGACCAAAGAAGCCTTTGCTGGGGGTAGGGGAGTCCAGTCTCCTGGTATGACGTCACGCCCTTCTTTTTGCAGGACCTCCTGGTGGCCGGAGCCTCCACAGCAGTGCAGTGGCAGCCACCTACAGTGAGTACCTGGGTGGCCTCTAGCCTCAGGTGTTCCTGACTGGTCCTGCTGGAGTAGGGGAAGAGACCTGAGTTCCAGTCCTGGCTTTGTCAGGGGCGTTCTTCTCTGAGCCTGTTTCCACTTTTAAAATGATTATGGTGATGGAGACTGACTCTGATTCACAGGGGCAGGGTCCATCATTGCCGAGGTTAGCATGTGTGATCTCAGAGCTCCCTGGGTGTGATGGGGAGGGGGTTGCCAGGTGTGAGCCATGGGTACCTGTGCCTATTGCCAGTCCCTGGTGAAGGCAAAGGCTCAAGCCCCCCACCTACCCCCCTTGATTCCTCTTTCAAGCCCTGTTGGGCAGGGAAGTGCGTCTGGGCTCCAATGGCCACCCAAGCACAGGGAGAGGTAGGCACGGACGGGCTCAGGCCAGAGGCGGCCTCCAGGGTCCTTGCTGAGGCTGGGGAGAGGTGTGGTGAGTGTACAGCCCCTTTGTAGCCCAGCAGTTGCACCTGGAAGTGAGGGCCAGGCTGCTCTCCCTGAGGCTCCAGGGAGACAGTGTGTGAGGCCTCTTGCCATGGCCTCCCTGCCCGCCTCTCTGCAGAGTATGTGAACATGCAGGATCCCGAGATGGACATGAAGTCAGTGACTGACCGGGCAGCCCGCACCCTGCTGTGGACTGAGCTCTTCCGAGGTGCGTCCTGGGCATGAGGGGACAGGGAAGGTGCCGGGTGGGCACGGATGCATGGGGGAGGAGGGTGCCCCTGCCCACCACACCCGTGCTGCCCACAGGCCTGGGCATGACCCTGAGCTACCTGTTCCGGGAACCGGCCACCATCAACTACCCGTTCGAGAAGGGCCCGCTGAGCCCTCGCTTCCGTGGGGAGCATGCGCTGCGCCGGTACCCATCCGGGGAGGAGCGTTGCATTGCCTGCAAGCTCTGCGAGGCCATCTGCCCCGCCCAGGTGAGCCCCTGCCCCAACCGGCCACCACGCCAGCCCCTGCCACTGGGAGAGGGAGGCCAGGCAGCCCTAGGCCCAAACCCTAGCCCCTGCTTGATGTGCGTCCCCAGGAAGTCCCTTTCCCCCTCTGAGCCACTTCCCTCGTGAATGGGAATGATGAGGGCTTGTTACCAGAGCACAGAGTCAGTGAGTTGGCAGAGTGAAGCTTCCAGCCCTGGGCAGGCGCCTGACACACAGAGGTTCCCCCTTGGGGTCTGGCCAAGGGTGTGACCCCTGGGCCTCTGAGCCATGGGGTGACACCTGAGGCCATCCACGCCTCCCTGGATGTAGCCACCGTTTCCGGAGTCCTGCTTGTGTGCCTGTTGCAGCTTCCCTTCCCCAGTGGCTGCTCCCCTGAGGCCCGGCTTTCCGTTCTCTTAGTGGGTCTCGTGCTTACCCGTGGGGGCCAGGCCTGCCAGCACGGGAACAATATGACTCGGTCAGAGCTCTGGTCAGACCCCTGTGTGTGCCTGGCAGGAGCCCCGGCAGCCGCCGCCGCTACTTTCTGTGTGCACAGCAACCCCTCCCAGTGTTCTGTGACTCGGGTGGCTCCTGTCCAGATCCTAGTTTGTCCTCTGGAGCACTCCCAGGTCCTCCAGGCCATGAGCTGCGGCCCTGATGTCTCTACTCCAGCCACGGACTGAGAGTGCATAGGAGTGTCCCCAAACAGCAGTCACGATGGTCACAACCTTGGCTTCCAGACAGTGAGTGCTGTCCACAGACAGACCCGGTGCTGTGCCATGTGTGTGACTCACAGCCTCTCCTGTAATCTCCACAACCCCTCGAGGAGGTCGAGGTTATTGTCTCCATCTTTATAAGCACTAAAGGATGAGCCTGCCAGCCACAGGTCCCACTGTGAGTTGTGGACACTACATTTCTGGGATGGGGGCATATGAGAGTCCTTGCCAAGCACATTTGAAGGTTTTCCCAGCCAGCCCCTCCCCCAGCGGGCTACCCAGGAACTGAGAGTTAGGACGTGCCCTTGAGTTTGGGCTGTGCCCCCACTTGCTGTGTAGCTTTGGGGAGCCCCTCAACCTCTCGGAACCTTGTTTTTCTCATCCATCAAATGGAGAGAAGTAGATTTAAGGCACAGGATTGCACCCAACAGTGTAGGCATTCTTGGCGATGTTGCAGGTTCGGCTCCAGACCATCGGGGTAAACTGAGTCACACAGCTGTTTTGGTTTTCCAGTGCATTTAAAAGTTAGATTTAGACCGGGCACAGTGGCTCATGCCTGTAATTCCAGCACTTTGAGAAGCCGAGGTGGGCGGATCACTTGAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATAACAAAACTTAGCCGGGCACGTTGGCAGGTCCCTGTAATCTCAGCTACTTGCTAGGCTGAGGCACGATAATCACTTGAACCGGGAGGTGGGGGTTGCAGTGAGCCAAAATTGAAAAAAAAAAAAAAAATTAGGGCCGGTTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACAAGGTCAGGAATTCAAGACCAGCCTGGCCAACATGTTGAAACCCCGTCTCTAGTAAAAATACAAAAATTAGCCGGGTGTGGGGTTGCACACCTGTAGTCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAACTATGATTGCACCACCATACTCCATCCTGGGC
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CACTGGGAAGGTGGGGAAGGTGCTGGGTTGGGTCCCTGGAACTGCAGTCAGTGATCCAAAGGAGTGGGCCTGTTAGGGGGTTCACAGGTCGTGGGATGAGCTCTTATGAGCGCCGGCTAAGTGCCGGGCTCTGGGGTGCCCTTGGCATGTACGGGCTCCCCTAATTCCCAAGACCAACCGCCCCCAACCCACTTCATAGGTGAGAAGACGGAGGTCAGGTCACATCATCTGCCCAAGGTCACGCGGCAGGCTGGGGGACAGTTCCAGGAGGGCCTTGAAGCTGGGGAAAGGAATGTGGTACCGAGGACTGTTCAGGCCTTGAAGAGTTTCCAGCAGGGCAGGGCTGGGTTCCGATCCTCGGCCCACCTCCTTATCGTGTGACTTCCGACAAGTCACTTTTTTATCTTTTTTTTGAGACAAGGTCTCACTCTGTCGCCCAGGTTGGAGGGCAGTGGTGCAGTCTGGGCTCACTGCAACTTCTGCCTCCTGGGTTCAAGCGATTCTCCTACCTCAACCTCCCGAGTAGCTGGGATTATAAGTGCCCACCACCACACCTGGCTAATTTCTGTATTTTTTGGTAGGGACGGGGTTCCACCATGTTAGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCAGCCCTAGCGAGTCACTCAACAAACTGAGTCCCAGCGCCTTATTTGTGCCTCCCTCGTGGAGTCCTTGTAAGGATAGGATGGCAGCGCTTTCCACCCCTGGGCACGGTTCCTGGGGGAGGAGAGCTAACAAAGTTCGCTCTCAGTGCATGCTGGCGGGGGCTGGTAATGTTGTTTTTGGTTAGATTTGGGGAGGATGAAGGGAGGAGCAGAAAGGTGGGAAACAGGATCTCTGGGAGGGAGAAAGGAAGGATGGATTTAAAAGGTTTCTTAGGTGAGGCAGAACTTGGGGTCCACAGAAACTGAATTGTAGCTCAGCCAAGCTGAATCAGATGGAAAGCTGGGAGGCGCTGGGAACAGGAAAGCCATCTGTGCCTCTGACAGCAATGGGGTGCGAGTAGAGGGCAAAGTGACACATGTCAGTGGAGACTTGGGATCCTTGCGGTGCCAGTCTCAGAAGAGGATGGTTCTTGGGCACACCCCACCCTCCATCCCTTTTTATGCCACCAGATGCGCTGCCTGACCACGCCTATGCTGCTGCGGGCCCTGGCCCAGGCTGCACGTGCAGGTAGGACCAAAGAAGCCTTTGCTGGGGGTAGGGGAGTCCAGTCTCCTGGTATGACGTCACGCCCTTCTTTTTGCAGGACCTCCTGGTGGCCGGAGCCTCCACAGCAGTGCAGTGGCAGCCACCTACAGTGAGTACCTGGGTGGCCTCTAGCCTCAGGTGTTCCTGACTGGTCCTGCTGGAGTAGGGGAAGAGACCTGAGTTCCAGTCCTGGCTTTGTCAGGGGCGTTCTTCTCTGAGCCTGTTTCCACTTTTAAAATGATTATGGTGATGGAGACTGACTCTGATTCACAGGGGCAGGGTCCATCATTGCCGAGGTTAGCATGTGTGATCTCAGAGCTCCCTGGGTGTGATGGGGAGGGGGTTGCCAGGTGTGAGCCATGGGTACCTGTGCCTATTGCCAGTCCCTGGTGAAGGCAAAGGCTCAAGCCCCCCACCTACCCCCCTTGATTCCTCTTTCAAGCCCTGTTGGGCAGGGAAGTGCGTCTGGGCTCCAATGGCCACCCAAGCACAGGGAGAGGTAGGCACGGACGGGCTCAGGCCAGAGGCGGCCTCCAGGGTCCTTGCTGAGGCTGGGGAGAGGTGTGGTGAGTGTACAGCCCCTTTGTAGCCCAGCAGTTGCACCTGGAAGTGAGGGCCAGGCTGCTCTCCCTGAGGCTCCAGGGAGACAGTGTGTGAGGCCTCTTGCCATGGCCTCCCTGCCCGCCTCTCTGCAGAGTATGTGAACATGCAGGATCCCGAGATGGACATGAAGTCAGTGACTGACCGGGCAGCCCGCACCCTGCTGTGGACTCAGCTCTTCCGAGGTGCGTCCTGGGCATGAGGGGACAGGGAAGGTGCCGGGTGGGCACGGATGCATGGGGGAGGAGGGTGCCCCTGCCCACCACACCCGTGCTGCCCACAGGCCTGGGCATGACCCTGAGCTACCTGTTCCGGGAACCGGCCACCATCAACTACCCGTTCGAGAAGGGCCCGCTGAGCCCTCGCTTCCGTGGGGAGCATGCGCTGCGCCGGTACCCATCCGGGGAGGAGCGTTGCATTGCCTGCAAGCTCTGCGAGGCCATCTGCCCCGCCCAGGTGAGCCCCTGCCCCAACCGGCCACCACGCCAGCCCCTGCCACTGGGAGAGGGAGGCCAGGCAGCCCTAGGCCCAAACCCTAGCCCCTGCTTGATGTGCGTCCCCAGGAAGTCCCTTTCCCCCTCTGAGCCACTTCCCTCGTGAATGGGAATGATGAGGGCTTGTTACCAGAGCACAGAGTCAGTGAGTTGGCAGAGTGAAGCTTCCAGCCCTGGGCAGGCGCCTGACACACAGAGGTTCCCCCTTGGGGTCTGGCCAAGGGTGTGACCCCTGGGCCTCTGAGCCATGGGGTGACACCTGAGGCCATCCACGCCTCCCTGGATGTAGCCACCGTTTCCGGAGTCCTGCTTGTGTGCCTGTTGCAGCTTCCCTTCCCCAGTGGCTGCTCCCCTGAGGCCCGGCTTTCCGTTCTCTTAGTGGGTCTCGTGCTTACCCGTGGGGGCCAGGCCTGCCAGCACGGGAACAATATGACTCGGTCAGAGCTCTGGTCAGACCCCTGTGTGTGCCTGGCAGGAGCCCCGGCAGCCGCCGCCGCTACTTTCTGTGTGCACAGCAACCCCTCCCAGTGTTCTGTGACTCGGGTGGCTCCTGTCCAGATCCTAGTTTGTCCTCTGGAGCACTCCCAGGTCCTCCAGGCCATGAGCTGCGGCCCTGATGTCTCTACTCCAGCCACGGACTGAGAGTGCATAGGAGTGTCCCCAAACAGCAGTCACGATGGTCACAACCTTGGCTTCCAGACAGTGAGTGCTGTCCACAGACAGACCCGGTGCTGTGCCATGTGTGTGACTCACAGCCTCTCCTGTAATCTCCACAACCCCTCGAGGAGGTCGAGGTTATTGTCTCCATCTTTATAAGCACTAAAGGATGAGCCTGCCAGCCACAGGTCCCACTGTGAGTTGTGGACACTACATTTCTGGGATGGGGGCATATGAGAGTCCTTGCCAAGCACATTTGAAGGTTTTCCCAGCCAGCCCCTCCCCCAGCGGGCTACCCAGGAACTGAGAGTTAGGACGTGCCCTTGAGTTTGGGCTGTGCCCCCACTTGCTGTGTAGCTTTGGGGAGCCCCTCAACCTCTCGGAACCTTGTTTTTCTCATCCATCAAATGGAGAGAAGTAGATTTAAGGCACAGGATTGCACCCAACAGTGTAGGCATTCTTGGCGATGTTGCAGGTTCGGCTCCAGACCATCGGGGTAAACTGAGTCACACAGCTGTTTTGGTTTTCCAGTGCATTTAAAAGTTAGATTTAGACCGGGCACAGTGGCTCATGCCTGTAATTCCAGCACTTTGAGAAGCCGAGGTGGGCGGATCACTTGAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATAACAAAACTTAGCCGGGCACGTTGGCAGGTCCCTGTAATCTCAGCTACTTGCTAGGCTGAGGCACGATAATCACTTGAACCGGGAGGTGGGGGTTGCAGTGAGCCAAAATTGAAAAAAAAAAAAAAAATTAGGGCCGGTTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACAAGGTCAGGAATTCAAGACCAGCCTGGCCAACATGTTGAAACCCCGTCTCTAGTAAAAATACAAAAATTAGCCGGGTGTGGGGTTGCACACCTGTAGTCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAACTATGATTGCACCACCATACTCCATCCTGGGC
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Task1_train_16149
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With a mutation on Chromosome 11 in gene NDUFS8 (NADH:ubiquinone oxidoreductase core subunit S8), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Mitochondrial complex 1 deficiency, nuclear type 2
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TCCCAAGACCAACCGCCCCCAACCCACTTCATAGGTGAGAAGACGGAGGTCAGGTCACATCATCTGCCCAAGGTCACGCGGCAGGCTGGGGGACAGTTCCAGGAGGGCCTTGAAGCTGGGGAAAGGAATGTGGTACCGAGGACTGTTCAGGCCTTGAAGAGTTTCCAGCAGGGCAGGGCTGGGTTCCGATCCTCGGCCCACCTCCTTATCGTGTGACTTCCGACAAGTCACTTTTTTATCTTTTTTTTGAGACAAGGTCTCACTCTGTCGCCCAGGTTGGAGGGCAGTGGTGCAGTCTGGGCTCACTGCAACTTCTGCCTCCTGGGTTCAAGCGATTCTCCTACCTCAACCTCCCGAGTAGCTGGGATTATAAGTGCCCACCACCACACCTGGCTAATTTCTGTATTTTTTGGTAGGGACGGGGTTCCACCATGTTAGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCAGCCCTAGCGAGTCACTCAACAAACTGAGTCCCAGCGCCTTATTTGTGCCTCCCTCGTGGAGTCCTTGTAAGGATAGGATGGCAGCGCTTTCCACCCCTGGGCACGGTTCCTGGGGGAGGAGAGCTAACAAAGTTCGCTCTCAGTGCATGCTGGCGGGGGCTGGTAATGTTGTTTTTGGTTAGATTTGGGGAGGATGAAGGGAGGAGCAGAAAGGTGGGAAACAGGATCTCTGGGAGGGAGAAAGGAAGGATGGATTTAAAAGGTTTCTTAGGTGAGGCAGAACTTGGGGTCCACAGAAACTGAATTGTAGCTCAGCCAAGCTGAATCAGATGGAAAGCTGGGAGGCGCTGGGAACAGGAAAGCCATCTGTGCCTCTGACAGCAATGGGGTGCGAGTAGAGGGCAAAGTGACACATGTCAGTGGAGACTTGGGATCCTTGCGGTGCCAGTCTCAGAAGAGGATGGTTCTTGGGCACACCCCACCCTCCATCCCTTTTTATGCCACCAGATGCGCTGCCTGACCACGCCTATGCTGCTGCGGGCCCTGGCCCAGGCTGCACGTGCAGGTAGGACCAAAGAAGCCTTTGCTGGGGGTAGGGGAGTCCAGTCTCCTGGTATGACGTCACGCCCTTCTTTTTGCAGGACCTCCTGGTGGCCGGAGCCTCCACAGCAGTGCAGTGGCAGCCACCTACAGTGAGTACCTGGGTGGCCTCTAGCCTCAGGTGTTCCTGACTGGTCCTGCTGGAGTAGGGGAAGAGACCTGAGTTCCAGTCCTGGCTTTGTCAGGGGCGTTCTTCTCTGAGCCTGTTTCCACTTTTAAAATGATTATGGTGATGGAGACTGACTCTGATTCACAGGGGCAGGGTCCATCATTGCCGAGGTTAGCATGTGTGATCTCAGAGCTCCCTGGGTGTGATGGGGAGGGGGTTGCCAGGTGTGAGCCATGGGTACCTGTGCCTATTGCCAGTCCCTGGTGAAGGCAAAGGCTCAAGCCCCCCACCTACCCCCCTTGATTCCTCTTTCAAGCCCTGTTGGGCAGGGAAGTGCGTCTGGGCTCCAATGGCCACCCAAGCACAGGGAGAGGTAGGCACGGACGGGCTCAGGCCAGAGGCGGCCTCCAGGGTCCTTGCTGAGGCTGGGGAGAGGTGTGGTGAGTGTACAGCCCCTTTGTAGCCCAGCAGTTGCACCTGGAAGTGAGGGCCAGGCTGCTCTCCCTGAGGCTCCAGGGAGACAGTGTGTGAGGCCTCTTGCCATGGCCTCCCTGCCCGCCTCTCTGCAGAGTATGTGAACATGCAGGATCCCGAGATGGACATGAAGTCAGTGACTGACCGGGCAGCCCGCACCCTGCTGTGGACTGAGCTCTTCCGAGGTGCGTCCTGGGCATGAGGGGACAGGGAAGGTGCCGGGTGGGCACGGATGCATGGGGGAGGAGGGTGCCCCTGCCCACCACACCCGTGCTGCCCACAGGCCTGGGCATGACCCTGAGCTACCTGTTCCGGGAACCGGCCACCATCAACTACCCGTTCGAGAAGGGCCCGCTGAGCCCTCGCTTCCGTGGGGAGCATGCGCTGCGCCGGTACCCATCCGGGGAGGAGCGTTGCATTGCCTGCAAGCTCTGCGAGGCCATCTGCCCCGCCCAGGTGAGCCCCTGCCCCAACCGGCCACCACGCCAGCCCCTGCCACTGGGAGAGGGAGGCCAGGCAGCCCTAGGCCCAAACCCTAGCCCCTGCTTGATGTGCGTCCCCAGGAAGTCCCTTTCCCCCTCTGAGCCACTTCCCTCGTGAATGGGAATGATGAGGGCTTGTTACCAGAGCACAGAGTCAGTGAGTTGGCAGAGTGAAGCTTCCAGCCCTGGGCAGGCGCCTGACACACAGAGGTTCCCCCTTGGGGTCTGGCCAAGGGTGTGACCCCTGGGCCTCTGAGCCATGGGGTGACACCTGAGGCCATCCACGCCTCCCTGGATGTAGCCACCGTTTCCGGAGTCCTGCTTGTGTGCCTGTTGCAGCTTCCCTTCCCCAGTGGCTGCTCCCCTGAGGCCCGGCTTTCCGTTCTCTTAGTGGGTCTCGTGCTTACCCGTGGGGGCCAGGCCTGCCAGCACGGGAACAATATGACTCGGTCAGAGCTCTGGTCAGACCCCTGTGTGTGCCTGGCAGGAGCCCCGGCAGCCGCCGCCGCTACTTTCTGTGTGCACAGCAACCCCTCCCAGTGTTCTGTGACTCGGGTGGCTCCTGTCCAGATCCTAGTTTGTCCTCTGGAGCACTCCCAGGTCCTCCAGGCCATGAGCTGCGGCCCTGATGTCTCTACTCCAGCCACGGACTGAGAGTGCATAGGAGTGTCCCCAAACAGCAGTCACGATGGTCACAACCTTGGCTTCCAGACAGTGAGTGCTGTCCACAGACAGACCCGGTGCTGTGCCATGTGTGTGACTCACAGCCTCTCCTGTAATCTCCACAACCCCTCGAGGAGGTCGAGGTTATTGTCTCCATCTTTATAAGCACTAAAGGATGAGCCTGCCAGCCACAGGTCCCACTGTGAGTTGTGGACACTACATTTCTGGGATGGGGGCATATGAGAGTCCTTGCCAAGCACATTTGAAGGTTTTCCCAGCCAGCCCCTCCCCCAGCGGGCTACCCAGGAACTGAGAGTTAGGACGTGCCCTTGAGTTTGGGCTGTGCCCCCACTTGCTGTGTAGCTTTGGGGAGCCCCTCAACCTCTCGGAACCTTGTTTTTCTCATCCATCAAATGGAGAGAAGTAGATTTAAGGCACAGGATTGCACCCAACAGTGTAGGCATTCTTGGCGATGTTGCAGGTTCGGCTCCAGACCATCGGGGTAAACTGAGTCACACAGCTGTTTTGGTTTTCCAGTGCATTTAAAAGTTAGATTTAGACCGGGCACAGTGGCTCATGCCTGTAATTCCAGCACTTTGAGAAGCCGAGGTGGGCGGATCACTTGAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATAACAAAACTTAGCCGGGCACGTTGGCAGGTCCCTGTAATCTCAGCTACTTGCTAGGCTGAGGCACGATAATCACTTGAACCGGGAGGTGGGGGTTGCAGTGAGCCAAAATTGAAAAAAAAAAAAAAAATTAGGGCCGGTTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACAAGGTCAGGAATTCAAGACCAGCCTGGCCAACATGTTGAAACCCCGTCTCTAGTAAAAATACAAAAATTAGCCGGGTGTGGGGTTGCACACCTGTAGTCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAACTATGATTGCACCACCATACTCCATCCTGGGCCACAGAGCAAGACTTCGTCTCAAAAAAAAAAAAAGGATTTACACTGTACTGTAGGCTGCGAAGTGTCTAAAACACAATGTATATACCTTAATTAAAAATACTTTAGGGGCCAGGCACAGTGGCTCACACCTGTAGTCCAAGTGCTTTGGGAGGTCAAGGTGAGGG
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TCCCAAGACCAACCGCCCCCAACCCACTTCATAGGTGAGAAGACGGAGGTCAGGTCACATCATCTGCCCAAGGTCACGCGGCAGGCTGGGGGACAGTTCCAGGAGGGCCTTGAAGCTGGGGAAAGGAATGTGGTACCGAGGACTGTTCAGGCCTTGAAGAGTTTCCAGCAGGGCAGGGCTGGGTTCCGATCCTCGGCCCACCTCCTTATCGTGTGACTTCCGACAAGTCACTTTTTTATCTTTTTTTTGAGACAAGGTCTCACTCTGTCGCCCAGGTTGGAGGGCAGTGGTGCAGTCTGGGCTCACTGCAACTTCTGCCTCCTGGGTTCAAGCGATTCTCCTACCTCAACCTCCCGAGTAGCTGGGATTATAAGTGCCCACCACCACACCTGGCTAATTTCTGTATTTTTTGGTAGGGACGGGGTTCCACCATGTTAGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCAGCCCTAGCGAGTCACTCAACAAACTGAGTCCCAGCGCCTTATTTGTGCCTCCCTCGTGGAGTCCTTGTAAGGATAGGATGGCAGCGCTTTCCACCCCTGGGCACGGTTCCTGGGGGAGGAGAGCTAACAAAGTTCGCTCTCAGTGCATGCTGGCGGGGGCTGGTAATGTTGTTTTTGGTTAGATTTGGGGAGGATGAAGGGAGGAGCAGAAAGGTGGGAAACAGGATCTCTGGGAGGGAGAAAGGAAGGATGGATTTAAAAGGTTTCTTAGGTGAGGCAGAACTTGGGGTCCACAGAAACTGAATTGTAGCTCAGCCAAGCTGAATCAGATGGAAAGCTGGGAGGCGCTGGGAACAGGAAAGCCATCTGTGCCTCTGACAGCAATGGGGTGCGAGTAGAGGGCAAAGTGACACATGTCAGTGGAGACTTGGGATCCTTGCGGTGCCAGTCTCAGAAGAGGATGGTTCTTGGGCACACCCCACCCTCCATCCCTTTTTATGCCACCAGATGCGCTGCCTGACCACGCCTATGCTGCTGCGGGCCCTGGCCCAGGCTGCACGTGCAGGTAGGACCAAAGAAGCCTTTGCTGGGGGTAGGGGAGTCCAGTCTCCTGGTATGACGTCACGCCCTTCTTTTTGCAGGACCTCCTGGTGGCCGGAGCCTCCACAGCAGTGCAGTGGCAGCCACCTACAGTGAGTACCTGGGTGGCCTCTAGCCTCAGGTGTTCCTGACTGGTCCTGCTGGAGTAGGGGAAGAGACCTGAGTTCCAGTCCTGGCTTTGTCAGGGGCGTTCTTCTCTGAGCCTGTTTCCACTTTTAAAATGATTATGGTGATGGAGACTGACTCTGATTCACAGGGGCAGGGTCCATCATTGCCGAGGTTAGCATGTGTGATCTCAGAGCTCCCTGGGTGTGATGGGGAGGGGGTTGCCAGGTGTGAGCCATGGGTACCTGTGCCTATTGCCAGTCCCTGGTGAAGGCAAAGGCTCAAGCCCCCCACCTACCCCCCTTGATTCCTCTTTCAAGCCCTGTTGGGCAGGGAAGTGCGTCTGGGCTCCAATGGCCACCCAAGCACAGGGAGAGGTAGGCACGGACGGGCTCAGGCCAGAGGCGGCCTCCAGGGTCCTTGCTGAGGCTGGGGAGAGGTGTGGTGAGTGTACAGCCCCTTTGTAGCCCAGCAGTTGCACCTGGAAGTGAGGGCCAGGCTGCTCTCCCTGAGGCTCCAGGGAGACAGTGTGTGAGGCCTCTTGCCATGGCCTCCCTGCCCGCCTCTCTGCAGAGTATGTGAACATGCAGGATCCCGAGATGGACATGAAGTCAGTGACTGACCGGGCAGCCCGCACCCTGCTGTGGACTGAGCTCTTCCGAGGTGCGTCCTGGGCATGAGGGGACAGGGAAGGTGCCGGGTGGGCACGGATGCATGGGGGAGGAGGGTGCCCCTGCCCACCACACCCGTGCTGCCCACAGGCCTGGGCATGACCCTGAGCTACCTGTTCCGGGAACCGGCCACCATCAACTACCTGTTCGAGAAGGGCCCGCTGAGCCCTCGCTTCCGTGGGGAGCATGCGCTGCGCCGGTACCCATCCGGGGAGGAGCGTTGCATTGCCTGCAAGCTCTGCGAGGCCATCTGCCCCGCCCAGGTGAGCCCCTGCCCCAACCGGCCACCACGCCAGCCCCTGCCACTGGGAGAGGGAGGCCAGGCAGCCCTAGGCCCAAACCCTAGCCCCTGCTTGATGTGCGTCCCCAGGAAGTCCCTTTCCCCCTCTGAGCCACTTCCCTCGTGAATGGGAATGATGAGGGCTTGTTACCAGAGCACAGAGTCAGTGAGTTGGCAGAGTGAAGCTTCCAGCCCTGGGCAGGCGCCTGACACACAGAGGTTCCCCCTTGGGGTCTGGCCAAGGGTGTGACCCCTGGGCCTCTGAGCCATGGGGTGACACCTGAGGCCATCCACGCCTCCCTGGATGTAGCCACCGTTTCCGGAGTCCTGCTTGTGTGCCTGTTGCAGCTTCCCTTCCCCAGTGGCTGCTCCCCTGAGGCCCGGCTTTCCGTTCTCTTAGTGGGTCTCGTGCTTACCCGTGGGGGCCAGGCCTGCCAGCACGGGAACAATATGACTCGGTCAGAGCTCTGGTCAGACCCCTGTGTGTGCCTGGCAGGAGCCCCGGCAGCCGCCGCCGCTACTTTCTGTGTGCACAGCAACCCCTCCCAGTGTTCTGTGACTCGGGTGGCTCCTGTCCAGATCCTAGTTTGTCCTCTGGAGCACTCCCAGGTCCTCCAGGCCATGAGCTGCGGCCCTGATGTCTCTACTCCAGCCACGGACTGAGAGTGCATAGGAGTGTCCCCAAACAGCAGTCACGATGGTCACAACCTTGGCTTCCAGACAGTGAGTGCTGTCCACAGACAGACCCGGTGCTGTGCCATGTGTGTGACTCACAGCCTCTCCTGTAATCTCCACAACCCCTCGAGGAGGTCGAGGTTATTGTCTCCATCTTTATAAGCACTAAAGGATGAGCCTGCCAGCCACAGGTCCCACTGTGAGTTGTGGACACTACATTTCTGGGATGGGGGCATATGAGAGTCCTTGCCAAGCACATTTGAAGGTTTTCCCAGCCAGCCCCTCCCCCAGCGGGCTACCCAGGAACTGAGAGTTAGGACGTGCCCTTGAGTTTGGGCTGTGCCCCCACTTGCTGTGTAGCTTTGGGGAGCCCCTCAACCTCTCGGAACCTTGTTTTTCTCATCCATCAAATGGAGAGAAGTAGATTTAAGGCACAGGATTGCACCCAACAGTGTAGGCATTCTTGGCGATGTTGCAGGTTCGGCTCCAGACCATCGGGGTAAACTGAGTCACACAGCTGTTTTGGTTTTCCAGTGCATTTAAAAGTTAGATTTAGACCGGGCACAGTGGCTCATGCCTGTAATTCCAGCACTTTGAGAAGCCGAGGTGGGCGGATCACTTGAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATAACAAAACTTAGCCGGGCACGTTGGCAGGTCCCTGTAATCTCAGCTACTTGCTAGGCTGAGGCACGATAATCACTTGAACCGGGAGGTGGGGGTTGCAGTGAGCCAAAATTGAAAAAAAAAAAAAAAATTAGGGCCGGTTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACAAGGTCAGGAATTCAAGACCAGCCTGGCCAACATGTTGAAACCCCGTCTCTAGTAAAAATACAAAAATTAGCCGGGTGTGGGGTTGCACACCTGTAGTCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAACTATGATTGCACCACCATACTCCATCCTGGGCCACAGAGCAAGACTTCGTCTCAAAAAAAAAAAAAGGATTTACACTGTACTGTAGGCTGCGAAGTGTCTAAAACACAATGTATATACCTTAATTAAAAATACTTTAGGGGCCAGGCACAGTGGCTCACACCTGTAGTCCAAGTGCTTTGGGAGGTCAAGGTGAGGG
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Task1_train_16150
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This mutation occurs in NDUFS8 (NADH:ubiquinone oxidoreductase core subunit S8) on Chromosome 11. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Mitochondrial complex 1 deficiency, nuclear type 2
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TTGGGCTGTGCCCCCACTTGCTGTGTAGCTTTGGGGAGCCCCTCAACCTCTCGGAACCTTGTTTTTCTCATCCATCAAATGGAGAGAAGTAGATTTAAGGCACAGGATTGCACCCAACAGTGTAGGCATTCTTGGCGATGTTGCAGGTTCGGCTCCAGACCATCGGGGTAAACTGAGTCACACAGCTGTTTTGGTTTTCCAGTGCATTTAAAAGTTAGATTTAGACCGGGCACAGTGGCTCATGCCTGTAATTCCAGCACTTTGAGAAGCCGAGGTGGGCGGATCACTTGAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATAACAAAACTTAGCCGGGCACGTTGGCAGGTCCCTGTAATCTCAGCTACTTGCTAGGCTGAGGCACGATAATCACTTGAACCGGGAGGTGGGGGTTGCAGTGAGCCAAAATTGAAAAAAAAAAAAAAAATTAGGGCCGGTTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACAAGGTCAGGAATTCAAGACCAGCCTGGCCAACATGTTGAAACCCCGTCTCTAGTAAAAATACAAAAATTAGCCGGGTGTGGGGTTGCACACCTGTAGTCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAACTATGATTGCACCACCATACTCCATCCTGGGCCACAGAGCAAGACTTCGTCTCAAAAAAAAAAAAAGGATTTACACTGTACTGTAGGCTGCGAAGTGTCTAAAACACAATGTATATACCTTAATTAAAAATACTTTAGGGGCCAGGCACAGTGGCTCACACCTGTAGTCCAAGTGCTTTGGGAGGTCAAGGTGAGGGGATTACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGCAAAACCCCGACTCTACAACAACAACAAAAAATACAAAAAATTAGCCCCTGTAGGCCCAGTTACTTGGGAGGTTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCTATGAGCTGCACCACTGTACTCCAGCCTGGGTGACAGGGCAAGACTCTGTCTCAAAAAACAAAAACAACAACAAAAACTTTATTCCTAAAAAGTGCTGACCCAGAGATAAGAAGCAAGCACATGGTTGGTAAAATGACATCAGTGAGCTTGCTTTATGCAGGGTTGCCCCAAACCTTCAATTTGTAAAACTCAAAATATCTGGAAAGCTTGGTGAGGCGAGGCGGGACTGTAACTCAGCACTCACCGCAGGGTGAGACCCTTAGGGCAGCGGGTGCTACACTGAACAAAGCGGTGAACAGCCCCCTCGTGAGAGGGGGTTCTTGGCAGATGACGCCAGCAGCTGACAAACAGGCAAGGCAGGCCGGGCACGGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGTCCAAGGTAAGCGGATCACAAGGTCAAGAGATCGAGACCATCCTGGTCTACATGGTGAAACCCCATCTCTACTAAAAAATACAAAAATTAGCTGGGCGTGGTGATGCACACTTGTAGTCCCAGCTACTCAGGGGGCTGAGGCAGGAGAATCACTTGAACCGGGAAGGCCGAGGTTGCAGTGAGCCGAGATTGTGCTGCTGCACTCCAGCCTGGCGACAGAGCGAGACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAACCAGCAAGGCAGGGACGCCAGCAGGGCACGTGCTGAGGAGACAGGCGCGAGCACCAGAGGTGCAGGGCGGCCTCTTAGCCGGAGTCCAGGAGGCCTTTGAGGGGAGAGGGCTTCTGGCAGACCCCAGGGGTGGGGATGAGCAGTGACAGGGGCCCTGGGGGCTGGGATGTGACAGGGCAGCGTGGCAGTGTCTGGTGGCCCCTCCCGCAGGCCATCACCATCGAGGCTGAGCCAAGAGCTGATGGCAGCCGCCGGACCACCCGCTATGACATCGACATGACCAAGTGCATCTACTGCGGCTTCTGCCAGGAGGCCTGTCCCGTGGATGCCATCGTCGAGGCACGTGAGGCCCCCGGGTGGGAGGGGGCCTGAGGCTCCTCAGCAGGGCCTAACCACCGTCCCTGCACCTCAACCTGCAGGGCCCCAACTTTGAGTTCTCCACGGAGACCCATGAGGAGCTGCTGTACAACAAGGAGAAGTTGCTCAACAACGGGGACAAGTGGGAGGCCGAGATCGCCGCCAACATCCAGGCTGACTACTTGTATCGGTGACGCCCCACCGGCCCGCAGCCCCTGCTGCCCAATAAAACCACTCCGACCCCACGGCCTCTTGTCTTGACTCTGGTGGTCCAGGGTGGGGCCGTTCCCGGCCTGCCTGAGGCCTGTGGTGCCTCCAACTGGACTAGGTCGCCACCTAGTCTTTATGCTCTCTGGAGTCCTGCTGCCCCAGCCCTGCCTTCCTGTAGACTCCAGGGCCCCACCAGGCTCTCATGGCTAGACCACAGGCCGCAGCATCCCTGTCACCCTGCCTCTTCCTGGGCGTCTTCCCCAAGGCCCAGCGATGCCAGAGGTCACCACAGACCTGCCGTTCCCACTCTCCCGGGTGTCCTGGCTGGGGCCTGGGCCTCCTGTCTCCCAAGAGCCATCCACTTGTAAGACGCTTAGGACTTGGAGCCTCCCAAGACCTCAGGCTGAAGAACAGCAAGTGGCAGAAACTCAGGCCGGGGCATCCTTGCTGGGGGTAGGAGGAAGCCTGCTTGGGGTGACAGTCACACGAGGGTGACACAGGCCCTGCTGGCCCTGAGCTGGCCTGCGTCCAGCCACATCCTCTTTCCTGTGTTCCCTACGCCAGGGTGCTGGCCCGGCCACTGCTCACCACTTCCTGCTTTGCTGGCCCAGCGACACGGTGGGGTTTCCCTAGGGCCACACACAAGCCCCTTGCCCATATAATGGCCAAAAGCAGCCCCCCTGAACTTGTGCTAAGTACTGTGGAAGGATTTCACTTCATTTGCAGTGAGGAAACCAGCTCCGAGAGGTGAAAGGGCTTGCTCAGGGCCATGCAGGGCACATCCCATAATAAAACTCAGTTCAGAGACCTTGACCCCCCCCATCTACCATCATTTCCAAAAGTGCTTTTTACAAAGCACTACTTTGTAAAAAGCTACTTCTTCGAAAGAACAAGTTTCCTGGCCCAGTGAGTGTTGGAAATGCTCCAGCTGCTGTGTGCCTGCTGGCAGGTACTGCATGGTAGACATTCAAGGCTCTGAGAAGGCCTGCAGCAAAAACACCAGCCTCTCCCAGCCCATTCCCAGGGAGCTTTTCTCAGGTCTAACACCTGGGCCTCCTTCCTAGACCAGGCATTGCCATCTAATGCCAAAGTGGCCAGGCTCCCGCTTGGGCCCCACAGCCTGTGGCACTGGGGTGAGAAGTAACTGCAGGAGGCGAGGGGAAGCCTGGAGCCCGGGAAGTGTCCACAGGTCTGGCCCGCAGCTCATCTTGGCCACTGATGAAAACAGGTGTTCTTTCCAAAAACAAGGCAGGCGCAGGACTCCTGAAGCACCGCCGGTTTAGCTTTTCCCAGACGTAACCGCCGTCAGAGCGTGGCATGGAGCCTGTAGCTGTGCACTGAATACTTCTATTCCAAGCGGGTCAGTCTTTCCAGCTCACCGCTGGGTTCTTTCCCTTACCGTGGTCTCCCAGGCACTTACTGCTGAGACCCCACTCAGGCTGTCTGGTTGTATCAGGCCCCGACCCTGTCAGAACAGGCCTATGGCGCCCAACCACAAGTCCCCCAATTTTCTGAGGAACCACAGCTGAGCTTGGCTGTGACTCAGTTTCCAGGCCCGGCTCTGGGGCTCCACTTGTCCACCCCTGCCGCAGCCCCACAGGCCTGTGCTCGCTGTGTGGGGCTTAGGGATCACCAGAGCTGAAGGGCCCCTGGCCTCCAGTGGGAATGCCCCAGGCCTGTCCAAAGTGCAGGCAGCTGGACGGTCGTGAGTCCCAGCTTCCAGGCACTAGGACCTGATGACGCCCATGGTGCTGACCTGGAGCAAGGTCACAGTGACACCCCCCTCTACCCCCC
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TTGGGCTGTGCCCCCACTTGCTGTGTAGCTTTGGGGAGCCCCTCAACCTCTCGGAACCTTGTTTTTCTCATCCATCAAATGGAGAGAAGTAGATTTAAGGCACAGGATTGCACCCAACAGTGTAGGCATTCTTGGCGATGTTGCAGGTTCGGCTCCAGACCATCGGGGTAAACTGAGTCACACAGCTGTTTTGGTTTTCCAGTGCATTTAAAAGTTAGATTTAGACCGGGCACAGTGGCTCATGCCTGTAATTCCAGCACTTTGAGAAGCCGAGGTGGGCGGATCACTTGAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATAACAAAACTTAGCCGGGCACGTTGGCAGGTCCCTGTAATCTCAGCTACTTGCTAGGCTGAGGCACGATAATCACTTGAACCGGGAGGTGGGGGTTGCAGTGAGCCAAAATTGAAAAAAAAAAAAAAAATTAGGGCCGGTTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACAAGGTCAGGAATTCAAGACCAGCCTGGCCAACATGTTGAAACCCCGTCTCTAGTAAAAATACAAAAATTAGCCGGGTGTGGGGTTGCACACCTGTAGTCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAACTATGATTGCACCACCATACTCCATCCTGGGCCACAGAGCAAGACTTCGTCTCAAAAAAAAAAAAAGGATTTACACTGTACTGTAGGCTGCGAAGTGTCTAAAACACAATGTATATACCTTAATTAAAAATACTTTAGGGGCCAGGCACAGTGGCTCACACCTGTAGTCCAAGTGCTTTGGGAGGTCAAGGTGAGGGGATTACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGCAAAACCCCGACTCTACAACAACAACAAAAAATACAAAAAATTAGCCCCTGTAGGCCCAGTTACTTGGGAGGTTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCTATGAGCTGCACCACTGTACTCCAGCCTGGGTGACAGGGCAAGACTCTGTCTCAAAAAACAAAAACAACAACAAAAACTTTATTCCTAAAAAGTGCTGACCCAGAGATAAGAAGCAAGCACATGGTTGGTAAAATGACATCAGTGAGCTTGCTTTATGCAGGGTTGCCCCAAACCTTCAATTTGTAAAACTCAAAATATCTGGAAAGCTTGGTGAGGCGAGGCGGGACTGTAACTCAGCACTCACCGCAGGGTGAGACCCTTAGGGCAGCGGGTGCTACACTGAACAAAGCGGTGAACAGCCCCCTCGTGAGAGGGGGTTCTTGGCAGATGACGCCAGCAGCTGACAAACAGGCAAGGCAGGCCGGGCACGGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGTCCAAGGTAAGCGGATCACAAGGTCAAGAGATCGAGACCATCCTGGTCTACATGGTGAAACCCCATCTCTACTAAAAAATACAAAAATTAGCTGGGCGTGGTGATGCACACTTGTAGTCCCAGCTACTCAGGGGGCTGAGGCAGGAGAATCACTTGAACCGGGAAGGCCGAGGTTGCAGTGAGCCGAGATTGTGCTGCTGCACTCCAGCCTGGCGACAGAGCGAGACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAACCAGCAAGGCAGGGACGCCAGCAGGGCACGTGCTGAGGAGACAGGCGCGAGCACCAGAGGTGCAGGGCGGCCTCTTAGCCGGAGTCCAGGAGGCCTTTGAGGGGAGAGGGCTTCTGGCAGACCCCAGGGGTGGGGATGAGCAGTGACAGGGGCCCTGGGGGCTGGGATGTGACAGGGCAGCGTGGCAGTGTCTGGTGGCCCCTCCCGCAGGCCATCACCATCGAGGCTGAGCCAAGAGCTGATGGCAGCCGCCGGACCACCCGCTATGACATCGACATGACCAAGTGCATCTACTGCGGCTTCTGCCAGGAGGACTGTCCCGTGGATGCCATCGTCGAGGCACGTGAGGCCCCCGGGTGGGAGGGGGCCTGAGGCTCCTCAGCAGGGCCTAACCACCGTCCCTGCACCTCAACCTGCAGGGCCCCAACTTTGAGTTCTCCACGGAGACCCATGAGGAGCTGCTGTACAACAAGGAGAAGTTGCTCAACAACGGGGACAAGTGGGAGGCCGAGATCGCCGCCAACATCCAGGCTGACTACTTGTATCGGTGACGCCCCACCGGCCCGCAGCCCCTGCTGCCCAATAAAACCACTCCGACCCCACGGCCTCTTGTCTTGACTCTGGTGGTCCAGGGTGGGGCCGTTCCCGGCCTGCCTGAGGCCTGTGGTGCCTCCAACTGGACTAGGTCGCCACCTAGTCTTTATGCTCTCTGGAGTCCTGCTGCCCCAGCCCTGCCTTCCTGTAGACTCCAGGGCCCCACCAGGCTCTCATGGCTAGACCACAGGCCGCAGCATCCCTGTCACCCTGCCTCTTCCTGGGCGTCTTCCCCAAGGCCCAGCGATGCCAGAGGTCACCACAGACCTGCCGTTCCCACTCTCCCGGGTGTCCTGGCTGGGGCCTGGGCCTCCTGTCTCCCAAGAGCCATCCACTTGTAAGACGCTTAGGACTTGGAGCCTCCCAAGACCTCAGGCTGAAGAACAGCAAGTGGCAGAAACTCAGGCCGGGGCATCCTTGCTGGGGGTAGGAGGAAGCCTGCTTGGGGTGACAGTCACACGAGGGTGACACAGGCCCTGCTGGCCCTGAGCTGGCCTGCGTCCAGCCACATCCTCTTTCCTGTGTTCCCTACGCCAGGGTGCTGGCCCGGCCACTGCTCACCACTTCCTGCTTTGCTGGCCCAGCGACACGGTGGGGTTTCCCTAGGGCCACACACAAGCCCCTTGCCCATATAATGGCCAAAAGCAGCCCCCCTGAACTTGTGCTAAGTACTGTGGAAGGATTTCACTTCATTTGCAGTGAGGAAACCAGCTCCGAGAGGTGAAAGGGCTTGCTCAGGGCCATGCAGGGCACATCCCATAATAAAACTCAGTTCAGAGACCTTGACCCCCCCCATCTACCATCATTTCCAAAAGTGCTTTTTACAAAGCACTACTTTGTAAAAAGCTACTTCTTCGAAAGAACAAGTTTCCTGGCCCAGTGAGTGTTGGAAATGCTCCAGCTGCTGTGTGCCTGCTGGCAGGTACTGCATGGTAGACATTCAAGGCTCTGAGAAGGCCTGCAGCAAAAACACCAGCCTCTCCCAGCCCATTCCCAGGGAGCTTTTCTCAGGTCTAACACCTGGGCCTCCTTCCTAGACCAGGCATTGCCATCTAATGCCAAAGTGGCCAGGCTCCCGCTTGGGCCCCACAGCCTGTGGCACTGGGGTGAGAAGTAACTGCAGGAGGCGAGGGGAAGCCTGGAGCCCGGGAAGTGTCCACAGGTCTGGCCCGCAGCTCATCTTGGCCACTGATGAAAACAGGTGTTCTTTCCAAAAACAAGGCAGGCGCAGGACTCCTGAAGCACCGCCGGTTTAGCTTTTCCCAGACGTAACCGCCGTCAGAGCGTGGCATGGAGCCTGTAGCTGTGCACTGAATACTTCTATTCCAAGCGGGTCAGTCTTTCCAGCTCACCGCTGGGTTCTTTCCCTTACCGTGGTCTCCCAGGCACTTACTGCTGAGACCCCACTCAGGCTGTCTGGTTGTATCAGGCCCCGACCCTGTCAGAACAGGCCTATGGCGCCCAACCACAAGTCCCCCAATTTTCTGAGGAACCACAGCTGAGCTTGGCTGTGACTCAGTTTCCAGGCCCGGCTCTGGGGCTCCACTTGTCCACCCCTGCCGCAGCCCCACAGGCCTGTGCTCGCTGTGTGGGGCTTAGGGATCACCAGAGCTGAAGGGCCCCTGGCCTCCAGTGGGAATGCCCCAGGCCTGTCCAAAGTGCAGGCAGCTGGACGGTCGTGAGTCCCAGCTTCCAGGCACTAGGACCTGATGACGCCCATGGTGCTGACCTGGAGCAAGGTCACAGTGACACCCCCCTCTACCCCCC
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Task1_train_16151
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A variant affecting Chromosome 11, within the gene TCIRG1 (T cell immune regulator 1, ATPase H+ transporting V0 subunit a3), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Autosomal recessive osteopetrosis 1
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GCTCACTGAAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGCACCACCACGCCTGGCTAATTTCATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACCCCCGACCTCACGTGATCCACCCACACAGGCCGTTGGGGGCCCAAGCACCCTGACTCTTGCCCACTGGATGAGGCAGGGCCCCTCCCTGTCCTGTGACCAAGTCCCCTCCCGACATGGGCTCCACCACATCACACCCATGCTATGGGCCGGGCCCCCACTCAGTGTCACTGGGGGCACTGGGGGGTTTGCTGCTTCTGCAGGGCCAGTGTCCTGGGGCTGGATCTGGGCCCCAACAGGATTCCCCTGCACGTGGGCAGAGGCTGGTGCAGCTAGAGCATCACCTGGAGGCCCGTGGCAGATAGAATGCTGCCAGCTCAAAGCACCAGCCGTCGGGGCAGCGTGTTTGCCAGGGAAGCTGTAACAAAGTGCCACCGGCTACTGGCTTAAGGGGCAGACACGGTCCCACAGTCCTGGAGGCTGGAAGTCCAAGACCAAGGTGTCAGCAGGGGCCGGGGGCACTGGCTGATGCCTGTGATCTCAGCACTTTGGGAGGCTGTGGTGGGAGGAGGATCTCTGGAGTCCAGGAGTTCGAGACCAGCCTGGGCAACATAGCAAGCCCTTGTATCTTAAAAAAATAAAAGATGATGAGGTGTTGTCAGCAGGAGTGGCTCCTTCTGAGGCTGTCCAGGAAGATCTGTTCCCGGCCTCTCTCCTGGGCTTGGAGCGGCCGTCCTCATCTTCACACACTGTTCTCCTTCTATGTGGGTCCAAATGTTCCTTTTCATAAGGACATCGGGCACACTGGATTGGGGCCCACTGTAATGGCCTTATCTTAACCCAGTGACCTCTGTAAGGACCCTGTCTCCAAAGAAGGTCACATCTGGAGTTCCTGGGGGTTGCGACTCCAGTGTATCTTTTTTGGGGTCACAACACAGCCCCTGACAGTGTGTATGTTGGGGTCCTCCTGCCTCCCATGAGGACTTGTTCCCATTTTACTGATGGGAAGTCGAGACTTCAGAGCTGAAGTGACCAGCTCGGCCTCCCGGAACTTGCCATGTGCCAGCTGGGGCTGCCTGTGGCTCCCTGTCCTCTCTGGCTTCTGTGTGGAGCTCTGGGAACAGCAACAGCTGAAGCTGCTAACTTCCTGTGGCTCCAGCAGCTGGCCCGTGCTGCCCGTGGAGAACTTATGAAGTGGTCTGGTGTTACCTGCATTTTACAGATGGGGAAATGGAGGCTCAGAGAGGTGAAGTGGCTGGGCCAAGGTCACACAGCTCCTAAGTGGTGGGTTCTTTTTTTTTTTTTTTTTTTCGGAGACAGAATCTTCGCTCTGTCGCGCAGGCTGGAGTGCAGTGGCGCGAGCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCATGCCCAGCTAATTTTTCTGTTTTTAGTACAGGCAGGGTTTCACCGTGTGGGCCAGGCTGGTCTCGAACTCCTGACCTCGGGTGATGCCCCCCCCCCCCCCCGTCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACTGTGCCTGGCTGCTAAGTGATGGGTTCTTGACTGCAGGCCAGCAGGGCCTCCGTGGCGTCTTGGGCCGGGAGGCAGATGCTGGTGTGTTCGGGGGTTCCCAGCTCACCCACCTCTGCCCACAGCTCCCTACACCATCATCACCTTCCCCTTCCTGTTTGCTGTGATGTTCGGGGATGTGGGCCACGGGCTGCTCATGTTCCTGTTCGCCCTGGCCATGGTCCTTGCGGAGAACCGACCGGCTGTGAAGGCCGCGCAGAACGAGGTGAGGGGCGGGGCTGGGGTCCTGATGAGGGTAGCAGGGCCAGGCAGCCCCTCACCACACCACTGCCCCCCCAGATCTGGCAGACTTTCTTCAGGGGCCGCTACCTGCTCCTGCTTATGGGCCTGTTCTCCATCTACACCGGCTTCATCTACAACGAGTGCTTCAGTCGCGCCACCAGCATCTTCCCCTCGGGCTGGAGTGTGGCCGCCATGGCCAACCAGTCTGGCTGGAGGTGAGGCCCGGGCCCCAGCCCGGCTGGGGGCCCCGCAGCACCCGCAGCCCTGACCGCCCTCCCCTGCGTTGCCGCAGTGATGCATTCCTGGCCCAGCACACGATGCTTACCCTGGATCCCAACGTCACCGGTGTCTTCCTGGGACCCTACCCCTTTGGCATCGATCCTGTGAGTCCTGGGATGGAGTGTCCGTGGGTGGTGAAGGCAGCTGGGAGTGGGGGCTGGGGCTCCCCTCGGTTCAGCCGTCCTGCAGCGCTGTCGCTGAGCACTCCTGTGTGCCAGGCCCTTTCCTCAGCACAAGAGGCAGACAAGCCTCCTGCCCTGCGGAGCCTGCATCACAGTCCCCTGAGTGTGCGGAGGCAAAGCGAGACCAGCCAGGAACCAGTCTCCTGAGTGTGCAGAGGCAAAGCGAGACTGGACAGGAACCAGCCTGCAGCTTGCACTGTGCCAAGCACTGTTCCCAACCCTCTGTGGAAGTGATTTTCTTTTTTCTTTTTTTTATTTTTGGATATAGAGTCTCATTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCATCTCCCGGGTTCAAGCGATTCCCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCTGGCTAATTTCTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACTCCTGACCTCATGTGATCCACCTGCTTCAGCCTCTCGAAGTGCTGGGATTACAGGCGTGAGTCACCGCGCCCAGCCTGATTTTCTATTTGAACCTCGTAACAACCCCGTGGGCCTCACATTAGTAGTGTCCTCACCTAAAGAAGAGACTGAGGCACAGAGGTCATGCCCAAGGTCACCCAGGCTGGCACCGTGGCAGCTGGCCCATCTGCGCTCTGTTGCCCCTCGGTGGGTGGGTGATGGATGAGGCTGCAGGCTCCGAGGGGGAAAACAGGGTGGTGAGAGAGTGACTCGGGCCGGGGACTTCCTGGCAGTGATGGCGAGGGAGCCCCTGAGTCCAGCCCACCCCTGCTGCCACCCTAGATTTGGAGCCTGGCTGCCAACCACTTGAGCTTCCTCAACTCCTTCAAGATGAAGATGTCCGTCATCCTGGGCGTCGTGCACATGGCCTTTGGGGTGGTCCTCGGAGTCTTCAACCACGTGTGAGGGCCAAGGCTGCCCGGGGGACGGGAGGCTGGCAGGCCAGAGTGGGCCCCAGTGAGCACACCTCCCTCTTGCCCGCCAGGCACTTTGGCCAGAGGCACCGGCTGCTGCTGGAGACGCTGCCGGAGCTCACCTTCCTGCTGGGACTCTTCGGTTACCTCGTGTTCCTAGTCATCTACAAGTGGCTGTGTGTCTGGGCTGCCAGGGCCGCCTCGGCCCCCAGCATCCTCATCCACTTCATCAACATGTTCCTCTTCTCCCACAGCCCCAGCAACAGGCTGCTCTACCCCCGGCAGGTGGGCTGCGGCTGGTGGGGGCCGGGCTCACACGGCCTCATGGGGACCCCGCGGTCACAGGGCCACTGGGAGCTGCAAGATCCTCGTCCGAGAAACGGGGATGCAGGCCCCGGGCCGTGCAGACAGGGCCGTCAGAGGTGATGGTGTGCATCTTTAGCAGGTGGCACAACTGGCACTGGGAACCGGGGGTCCCTTCCCTCAGGAGTCCTTATGGAGGCAGACCCTCACCCAGTGAGGGCACGGAGCCCCCGGGGGCCCTGGAGGGAGGAGCGACCGCAGGCTCTCTGGGCCCCGTGACTGCTGTGACTCAGGTTCCTTTGCAGGTGTGCACAGCAGGGACGCCCTGACTCTCGCCCTCTCCCTGGCAGGAGGTGGTCCAGGCCACGCTGGTGGTCCTGGCCTTGGCCATGGTGCCCATCCTGCTG
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GCTCACTGAAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGCACCACCACGCCTGGCTAATTTCATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACCCCCGACCTCACGTGATCCACCCACACAGGCCGTTGGGGGCCCAAGCACCCTGACTCTTGCCCACTGGATGAGGCAGGGCCCCTCCCTGTCCTGTGACCAAGTCCCCTCCCGACATGGGCTCCACCACATCACACCCATGCTATGGGCCGGGCCCCCACTCAGTGTCACTGGGGGCACTGGGGGGTTTGCTGCTTCTGCAGGGCCAGTGTCCTGGGGCTGGATCTGGGCCCCAACAGGATTCCCCTGCACGTGGGCAGAGGCTGGTGCAGCTAGAGCATCACCTGGAGGCCCGTGGCAGATAGAATGCTGCCAGCTCAAAGCACCAGCCGTCGGGGCAGCGTGTTTGCCAGGGAAGCTGTAACAAAGTGCCACCGGCTACTGGCTTAAGGGGCAGACACGGTCCCACAGTCCTGGAGGCTGGAAGTCCAAGACCAAGGTGTCAGCAGGGGCCGGGGGCACTGGCTGATGCCTGTGATCTCAGCACTTTGGGAGGCTGTGGTGGGAGGAGGATCTCTGGAGTCCAGGAGTTCGAGACCAGCCTGGGCAACATAGCAAGCCCTTGTATCTTAAAAAAATAAAAGATGATGAGGTGTTGTCAGCAGGAGTGGCTCCTTCTGAGGCTGTCCAGGAAGATCTGTTCCCGGCCTCTCTCCTGGGCTTGGAGCGGCCGTCCTCATCTTCACACACTGTTCTCCTTCTATGTGGGTCCAAATGTTCCTTTTCATAAGGACATCGGGCACACTGGATTGGGGCCCACTGTAATGGCCTTATCTTAACCCAGTGACCTCTGTAAGGACCCTGTCTCCAAAGAAGGTCACATCTGGAGTTCCTGGGGGTTGCGACTCCAGTGTATCTTTTTTGGGGTCACAACACAGCCCCTGACAGTGTGTATGTTGGGGTCCTCCTGCCTCCCATGAGGACTTGTTCCCATTTTACTGATGGGAAGTCGAGACTTCAGAGCTGAAGTGACCAGCTCGGCCTCCCGGAACTTGCCATGTGCCAGCTGGGGCTGCCTGTGGCTCCCTGTCCTCTCTGGCTTCTGTGTGGAGCTCTGGGAACAGCAACAGCTGAAGCTGCTAACTTCCTGTGGCTCCAGCAGCTGGCCCGTGCTGCCCGTGGAGAACTTATGAAGTGGTCTGGTGTTACCTGCATTTTACAGATGGGGAAATGGAGGCTCAGAGAGGTGAAGTGGCTGGGCCAAGGTCACACAGCTCCTAAGTGGTGGGTTCTTTTTTTTTTTTTTTTTTTCGGAGACAGAATCTTCGCTCTGTCGCGCAGGCTGGAGTGCAGTGGCGCGAGCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCATGCCCAGCTAATTTTTCTGTTTTTAGTACAGGCAGGGTTTCACCGTGTGGGCCAGGCTGGTCTCGAACTCCTGACCTCGGGTGATGCCCCCCCCCCCCCCCGTCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACTGTGCCTGGCTGCTAAGTGATGGGTTCTTGACTGCAGGCCAGCAGGGCCTCCGTGGCGTCTTGGGCCGGGAGGCAGATGCTGGTGTGTTCGGGGGTTCCCAGCTCACCCACCTCTGCCCACAGCTCCCTACACCATCATCACCTTCCCCTTCCTGTTTGCTGTGATGTTCGGGGATGTGGGCCACGGGCTGCTCATGTTCCTGTTCGCCCTGGCCATGGTCCTTGCGGAGAACCGACCGGCTGTGAAGGCCGCGCAGAACGAGGTGAGGGGCGGGGCTGGGGTCCTGATGAGGGTAGCAGGGCCAGGCAGCCCCTCACCACACCACTGCCCCCCCAGATCTGGCAGACTTTCTTCAGGGGCCTCTACCTGCTCCTGCTTATGGGCCTGTTCTCCATCTACACCGGCTTCATCTACAACGAGTGCTTCAGTCGCGCCACCAGCATCTTCCCCTCGGGCTGGAGTGTGGCCGCCATGGCCAACCAGTCTGGCTGGAGGTGAGGCCCGGGCCCCAGCCCGGCTGGGGGCCCCGCAGCACCCGCAGCCCTGACCGCCCTCCCCTGCGTTGCCGCAGTGATGCATTCCTGGCCCAGCACACGATGCTTACCCTGGATCCCAACGTCACCGGTGTCTTCCTGGGACCCTACCCCTTTGGCATCGATCCTGTGAGTCCTGGGATGGAGTGTCCGTGGGTGGTGAAGGCAGCTGGGAGTGGGGGCTGGGGCTCCCCTCGGTTCAGCCGTCCTGCAGCGCTGTCGCTGAGCACTCCTGTGTGCCAGGCCCTTTCCTCAGCACAAGAGGCAGACAAGCCTCCTGCCCTGCGGAGCCTGCATCACAGTCCCCTGAGTGTGCGGAGGCAAAGCGAGACCAGCCAGGAACCAGTCTCCTGAGTGTGCAGAGGCAAAGCGAGACTGGACAGGAACCAGCCTGCAGCTTGCACTGTGCCAAGCACTGTTCCCAACCCTCTGTGGAAGTGATTTTCTTTTTTCTTTTTTTTATTTTTGGATATAGAGTCTCATTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCATCTCCCGGGTTCAAGCGATTCCCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCTGGCTAATTTCTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACTCCTGACCTCATGTGATCCACCTGCTTCAGCCTCTCGAAGTGCTGGGATTACAGGCGTGAGTCACCGCGCCCAGCCTGATTTTCTATTTGAACCTCGTAACAACCCCGTGGGCCTCACATTAGTAGTGTCCTCACCTAAAGAAGAGACTGAGGCACAGAGGTCATGCCCAAGGTCACCCAGGCTGGCACCGTGGCAGCTGGCCCATCTGCGCTCTGTTGCCCCTCGGTGGGTGGGTGATGGATGAGGCTGCAGGCTCCGAGGGGGAAAACAGGGTGGTGAGAGAGTGACTCGGGCCGGGGACTTCCTGGCAGTGATGGCGAGGGAGCCCCTGAGTCCAGCCCACCCCTGCTGCCACCCTAGATTTGGAGCCTGGCTGCCAACCACTTGAGCTTCCTCAACTCCTTCAAGATGAAGATGTCCGTCATCCTGGGCGTCGTGCACATGGCCTTTGGGGTGGTCCTCGGAGTCTTCAACCACGTGTGAGGGCCAAGGCTGCCCGGGGGACGGGAGGCTGGCAGGCCAGAGTGGGCCCCAGTGAGCACACCTCCCTCTTGCCCGCCAGGCACTTTGGCCAGAGGCACCGGCTGCTGCTGGAGACGCTGCCGGAGCTCACCTTCCTGCTGGGACTCTTCGGTTACCTCGTGTTCCTAGTCATCTACAAGTGGCTGTGTGTCTGGGCTGCCAGGGCCGCCTCGGCCCCCAGCATCCTCATCCACTTCATCAACATGTTCCTCTTCTCCCACAGCCCCAGCAACAGGCTGCTCTACCCCCGGCAGGTGGGCTGCGGCTGGTGGGGGCCGGGCTCACACGGCCTCATGGGGACCCCGCGGTCACAGGGCCACTGGGAGCTGCAAGATCCTCGTCCGAGAAACGGGGATGCAGGCCCCGGGCCGTGCAGACAGGGCCGTCAGAGGTGATGGTGTGCATCTTTAGCAGGTGGCACAACTGGCACTGGGAACCGGGGGTCCCTTCCCTCAGGAGTCCTTATGGAGGCAGACCCTCACCCAGTGAGGGCACGGAGCCCCCGGGGGCCCTGGAGGGAGGAGCGACCGCAGGCTCTCTGGGCCCCGTGACTGCTGTGACTCAGGTTCCTTTGCAGGTGTGCACAGCAGGGACGCCCTGACTCTCGCCCTCTCCCTGGCAGGAGGTGGTCCAGGCCACGCTGGTGGTCCTGGCCTTGGCCATGGTGCCCATCCTGCTG
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Task1_train_16152
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Consider this mutation in KMT5B (lysine methyltransferase 5B) on Chromosome 11. Is this a benign change or a disease-causing variant?
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Pathogenic; Intellectual disability, autosomal dominant 51
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TCACCAGTGAGAAAACAGAGGCTCATGAAAGAGAACTAATCTGCTCAAGGAAAATGACTATACCTGCAGTTCTAAACCAGGGAAAGAGCTGTTTCGGTGTTGGTTTGGAATCCTCAGTATGTGGTTAGGTGTTTTCAGGACCGCCTCCAAAAACTTCATTATATATATTTACTCTATTCATTCATTTACCAAATATTTATCAAGGACTTACTATGCACCAGGGTACTGTTCTGTATTCTGGGGATATAGCGGAAAATGAAACAGATACAAGCCCCTGCCTTCATGGAGCTCATATTCTAATGGGAAAATAACCAGAAACCAATTATTGTAGTTAACATTTGTGTATTAACTGTGTGCTATTCTACATGCTTTACAGGAAATAACAAATTTAGCCTTCACATCAACCCTACAAAATAGGTTCTGATGTTATCCCCATTTTACAGATGGGGAAATTAAGGCACAAAGCAGCTAAGTGACTTACCCTACACATCACATAGCTAATGAAATGCAGAGTTGCAGGATTCCAACCCAGGCAGTCTGATTTCAGATGATAGGCACTTAACTGTTATACTGTTTCCTCTACAAAATGATTTTGAAGAATTATTGAACTATAATTAAACTACTTTAAAGGGTATTCTCTGGACTGGTCCAAGATCTAACCAACATGTGAATAATTTTTATGTAGAAAAAGATAAATTTTATGTCCCTCTGCCCTGGTAAAAATTCAGCAGCACTAGGAACTGGTTTTCTGCCACATCTTTATGGCAAGGAGCCCACTCAGTGCTGGGAGAGGGATGGCTACGGTAGCACTGTGACTTGATGACTCCGTCCTCTCTCACCACACAGTTGGAAATCCCTGGCTATCCAGAAAGGAGGGAAATGGCAACTGGGGTATCTGCCCACTGCAACCTCTAGGCTGGCTATTTGTAGGTGTTTTAAAGTGGGAGAAGTGACACTAATAACTCTGATCATAACTCCAAAAGCAATATGAAGTGGAAAGAATGAGGACTCTGAAGTTAGGCTGACTGGGGTCTGATACTTATGTTCTGGTACTCGCAATGTGGGCACCTCCTAGCTCTCTCATGAATATCTGTGAGAACTGAACAAGGTGGTGTGAGTAAAGTGCCTGGCACAGTGCAAGATGTGCAAAATGGACTCCAGGTTTCCTTCTCTGTGGCCTGTGTGGTCTGTACTGCCTTTGAGGGGACTCTTCCTGCAGCCCTTGCCTGCCTGAGCCTGTGACGCTCCCTTCATGGTGCTCTCACACACAGAAGTCACTATAATGAGCAATATGAACTGGTGGTCCTGCCAATGAAGATCTGGGGGATTTCTGTAAAGACTCCAGGACTCTTGATGAGACATAAGAAGAGGTTCCTTATTGAATGACTGATATCAGGGAACAACTCTTAAGAACTGTGAAACCAAAATTCCAGAAGACACAGCTTGATAATATGCAAGACGACTATCAGTGGTGAACTCCACTTGACATTTTGAGTAGCGGCAACCCCATTCTGGCATTGCGTGTGTGCATGTGTGTGAGCTATTAACCATTCTCTCCTTAAGCACATCTGTATTCTGGCCCACTCTTAGCTGGTAATATTAAGATTTTAAAGGGAAATTTTAAATTTATTGAGGGACATTCCAATGTCCCTAAATAGCTGTGCAGCATTTGACTTTGTTCATACACACTGCACCAGCCGCTATGCTAAAGAACATAAAGACTATCTCTGCATTTAAACAACAAAGAGATAATGTGAGTTTAATCCCCATAATCAGGTTGTTAACAAAAAATGTTTAGGCTGAACATTTTACTTAATACCTTACCTTTCGCAAGTGTAACACTCGCAGAACTCATTATTTTCTCCAAAGAACCCATCTCCATAATAACAAGAAATTTCTTCTCCAGGTTCAATGTCTCTTAGAGCCTTCACACATGCTGTATCTCGACCAGTTGACACAAACTAAAATAAAAGTAACTCAGTAAGAAACTCACACCTGAAGCAAAAACAAAATACTTGAAGAAAATTTTTTTAATGCTTACCTTACAATTAGGTCTGCAATCTGAAAAATGTCCAAAAGATAAAGTCAATTAACTGTTGATAAGATCTGAAACACGAACAATTATAGAAATCTGAAATAAGCTTTCCATATAACTTTACAACTTTTGATAGGAGTTTAGGTCTCAAGTTCAACTAAAGGAATATACATTTATTTTAATAAGTTTGTGGAAACATTTCTATTTCAAATTCTCCTTTAAAGGAAGATAAAGGTTTGACTGAGGTTGACAAGGCCATTCTAGCAGTTAGCAGGAATGGCCAACACTAGCGCCAACACCTTGGAAACACAGCTTACCATGGTTTATAAACGCAGCAGGACCCAGCCAGAGTTGAGCACAGTTTTTCCTTGTGGAGTACATGACACTGAAGTCGTTTTCTCCATGTCTAAGTAGCATGTTCTCCTCAATTTCTGAAAGTTCGGCAATACAACCCACCAGTAATTCTATTTTGTCATTTCGTTTCCTATTTAAAATATGTGATGTGTTAAAAATTACTAGTAATTAAATATAGTAAGGCTTCTTTTAATAAAATAATCCTGACAATAAATATCAGAAACTGAAAAGGCCTAGCTGTCTATACTTTAGTTAGCTCACTGGGATCCCCACCTGGCTATCTTCTCTCCTACCCTGGAGCTCCACAGCCTTGTGCCATGGTTACTTGTGTACCTATCTTATTCCTGCAAGAGAATGGAAACTCAACCAGGACAGGGACTATGCCACCTATGTCTCTGAATGCCCTGGTGTGGTGTTTTGCAAGCAGAAAGTACTCAAATACTTGCGGCAATGAATTAAACTTTCTGACTGCTGGATGAAGCAGGCAGGGACCAGTGGCAGTAAGGGTTATGAGGATCCGGAATCATGGTGCCACTCTTTAGAGCACACCATCTGCTAGGAATATAATGCAAGCCAAATTTTCAATCTTAAATTTTTTAGCAGCCACATTGAGAAAGTTAAGTGAATATAGGTGAAATTACTTTAACAATTTATTTTATTTTATTTTATTTGAGACGGAATCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCTGCCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTAAGTAGCTGGGACTACAGGTGTGTGCCACCACACCTAGCTCATTTTTTTTTTTTGTATTTTTACTAGAGATGGAGTTTCACCGTGTTGGCCAGGATGGTCTCGATTTCTTGACGTCATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGATGAGCCACCATGCCCAGCCAACAATATATTTTAACCCAATATCCAAAATACGATTTCAGTAGGTAATATAAGAACTATGAATGGGAATAAAATTTAATATGAAATCTGGTGTGTATAGCACACTTACAGCGCTTCTCAATTCAGACTAGCTACATTTCAAGGACTCAAGGGCTGGTGGCTACTGTACCGGACGGTACAGCTCTAGGACTCTAGATCTCAAACCTACACACCCATCTGCAACACAGGGAGCCACATAATCCAACTAGCAGGCTCAATACATCCTGAGGTAAATGAAGCACATTTCATGTACACACACTCACCCCAGAGGCCTGGCAATAAAGTTCTTTTACCTATCCATTTTCAGATATCTGACCCCCCAAATTTTTGTGGTAGAAATATCAGAGGGTGGGTACATGAGGAGCTACATGTTTTTCCTGGGAGATAACATAGGGAACAGGCATGATAGGAAAGAAGATACAGTAGTATATTCTCTTTCATCTGTAACTTTTATCCCTTTTAGCTGGGCTCAACTCTGACTTAATTTTGAGATAGAGTCTCACTCTATTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTATAGCCTCTGTCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCACCCGAGTAGCTAGGACTACAGGTGTGTGCTACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCC
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TCACCAGTGAGAAAACAGAGGCTCATGAAAGAGAACTAATCTGCTCAAGGAAAATGACTATACCTGCAGTTCTAAACCAGGGAAAGAGCTGTTTCGGTGTTGGTTTGGAATCCTCAGTATGTGGTTAGGTGTTTTCAGGACCGCCTCCAAAAACTTCATTATATATATTTACTCTATTCATTCATTTACCAAATATTTATCAAGGACTTACTATGCACCAGGGTACTGTTCTGTATTCTGGGGATATAGCGGAAAATGAAACAGATACAAGCCCCTGCCTTCATGGAGCTCATATTCTAATGGGAAAATAACCAGAAACCAATTATTGTAGTTAACATTTGTGTATTAACTGTGTGCTATTCTACATGCTTTACAGGAAATAACAAATTTAGCCTTCACATCAACCCTACAAAATAGGTTCTGATGTTATCCCCATTTTACAGATGGGGAAATTAAGGCACAAAGCAGCTAAGTGACTTACCCTACACATCACATAGCTAATGAAATGCAGAGTTGCAGGATTCCAACCCAGGCAGTCTGATTTCAGATGATAGGCACTTAACTGTTATACTGTTTCCTCTACAAAATGATTTTGAAGAATTATTGAACTATAATTAAACTACTTTAAAGGGTATTCTCTGGACTGGTCCAAGATCTAACCAACATGTGAATAATTTTTATGTAGAAAAAGATAAATTTTATGTCCCTCTGCCCTGGTAAAAATTCAGCAGCACTAGGAACTGGTTTTCTGCCACATCTTTATGGCAAGGAGCCCACTCAGTGCTGGGAGAGGGATGGCTACGGTAGCACTGTGACTTGATGACTCCGTCCTCTCTCACCACACAGTTGGAAATCCCTGGCTATCCAGAAAGGAGGGAAATGGCAACTGGGGTATCTGCCCACTGCAACCTCTAGGCTGGCTATTTGTAGGTGTTTTAAAGTGGGAGAAGTGACACTAATAACTCTGATCATAACTCCAAAAGCAATATGAAGTGGAAAGAATGAGGACTCTGAAGTTAGGCTGACTGGGGTCTGATACTTATGTTCTGGTACTCGCAATGTGGGCACCTCCTAGCTCTCTCATGAATATCTGTGAGAACTGAACAAGGTGGTGTGAGTAAAGTGCCTGGCACAGTGCAAGATGTGCAAAATGGACTCCAGGTTTCCTTCTCTGTGGCCTGTGTGGTCTGTACTGCCTTTGAGGGGACTCTTCCTGCAGCCCTTGCCTGCCTGAGCCTGTGACGCTCCCTTCATGGTGCTCTCACACACAGAAGTCACTATAATGAGCAATATGAACTGGTGGTCCTGCCAATGAAGATCTGGGGGATTTCTGTAAAGACTCCAGGACTCTTGATGAGACATAAGAAGAGGTTCCTTATTGAATGACTGATATCAGGGAACAACTCTTAAGAACTGTGAAACCAAAATTCCAGAAGACACAGCTTGATAATATGCAAGACGACTATCAGTGGTGAACTCCACTTGACATTTTGAGTAGCGGCAACCCCATTCTGGCATTGCGTGTGTGCATGTGTGTGAGCTATTAACCATTCTCTCCTTAAGCACATCTGTATTCTGGCCCACTCTTAGCTGGTAATATTAAGATTTTAAAGGGAAATTTTAAATTTATTGAGGGACATTCCAATGTCCCTAAATAGCTGTGCAGCATTTGACTTTGTTCATACACACTGCACCAGCCGCTATGCTAAAGAACATAAAGACTATCTCTGCATTTAAACAACAAAGAGATAATGTGAGTTTAATCCCCATAATCAGGTTGTTAACAAAAAATGTTTAGGCTGAACATTTTACTTAATACCTTACCTTTCGCAAGTGTAACACTCGCAGAACTCATTATTTTCTCCAAAGAACCCATCTCCATAATAACAAGAAATTTCTTCTCCAGGTTCAATGTCTCTTAGAGCCTTCACACATGCTGTATCTCGACCAGTTGACACAAACTAAAATAAAAGTAACTCAGTAAGAAACTCACACCTGAAGCAAAAACAAAATACTTGAAGAAAATTTTTTTAATGCTTACCTTACAAATAGGTCTGCAATCTGAAAAATGTCCAAAAGATAAAGTCAATTAACTGTTGATAAGATCTGAAACACGAACAATTATAGAAATCTGAAATAAGCTTTCCATATAACTTTACAACTTTTGATAGGAGTTTAGGTCTCAAGTTCAACTAAAGGAATATACATTTATTTTAATAAGTTTGTGGAAACATTTCTATTTCAAATTCTCCTTTAAAGGAAGATAAAGGTTTGACTGAGGTTGACAAGGCCATTCTAGCAGTTAGCAGGAATGGCCAACACTAGCGCCAACACCTTGGAAACACAGCTTACCATGGTTTATAAACGCAGCAGGACCCAGCCAGAGTTGAGCACAGTTTTTCCTTGTGGAGTACATGACACTGAAGTCGTTTTCTCCATGTCTAAGTAGCATGTTCTCCTCAATTTCTGAAAGTTCGGCAATACAACCCACCAGTAATTCTATTTTGTCATTTCGTTTCCTATTTAAAATATGTGATGTGTTAAAAATTACTAGTAATTAAATATAGTAAGGCTTCTTTTAATAAAATAATCCTGACAATAAATATCAGAAACTGAAAAGGCCTAGCTGTCTATACTTTAGTTAGCTCACTGGGATCCCCACCTGGCTATCTTCTCTCCTACCCTGGAGCTCCACAGCCTTGTGCCATGGTTACTTGTGTACCTATCTTATTCCTGCAAGAGAATGGAAACTCAACCAGGACAGGGACTATGCCACCTATGTCTCTGAATGCCCTGGTGTGGTGTTTTGCAAGCAGAAAGTACTCAAATACTTGCGGCAATGAATTAAACTTTCTGACTGCTGGATGAAGCAGGCAGGGACCAGTGGCAGTAAGGGTTATGAGGATCCGGAATCATGGTGCCACTCTTTAGAGCACACCATCTGCTAGGAATATAATGCAAGCCAAATTTTCAATCTTAAATTTTTTAGCAGCCACATTGAGAAAGTTAAGTGAATATAGGTGAAATTACTTTAACAATTTATTTTATTTTATTTTATTTGAGACGGAATCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCTGCCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTAAGTAGCTGGGACTACAGGTGTGTGCCACCACACCTAGCTCATTTTTTTTTTTTGTATTTTTACTAGAGATGGAGTTTCACCGTGTTGGCCAGGATGGTCTCGATTTCTTGACGTCATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGATGAGCCACCATGCCCAGCCAACAATATATTTTAACCCAATATCCAAAATACGATTTCAGTAGGTAATATAAGAACTATGAATGGGAATAAAATTTAATATGAAATCTGGTGTGTATAGCACACTTACAGCGCTTCTCAATTCAGACTAGCTACATTTCAAGGACTCAAGGGCTGGTGGCTACTGTACCGGACGGTACAGCTCTAGGACTCTAGATCTCAAACCTACACACCCATCTGCAACACAGGGAGCCACATAATCCAACTAGCAGGCTCAATACATCCTGAGGTAAATGAAGCACATTTCATGTACACACACTCACCCCAGAGGCCTGGCAATAAAGTTCTTTTACCTATCCATTTTCAGATATCTGACCCCCCAAATTTTTGTGGTAGAAATATCAGAGGGTGGGTACATGAGGAGCTACATGTTTTTCCTGGGAGATAACATAGGGAACAGGCATGATAGGAAAGAAGATACAGTAGTATATTCTCTTTCATCTGTAACTTTTATCCCTTTTAGCTGGGCTCAACTCTGACTTAATTTTGAGATAGAGTCTCACTCTATTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTATAGCCTCTGTCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCACCCGAGTAGCTAGGACTACAGGTGTGTGCTACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCC
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Task1_train_16153
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This genomic variant is located on Chromosome 11, within the KMT5B (lysine methyltransferase 5B) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Intellectual disability, autosomal dominant 51
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CATGATAGGAAAGAAGATACAGTAGTATATTCTCTTTCATCTGTAACTTTTATCCCTTTTAGCTGGGCTCAACTCTGACTTAATTTTGAGATAGAGTCTCACTCTATTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTATAGCCTCTGTCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCACCCGAGTAGCTAGGACTACAGGTGTGTGCTACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCAATGCCCCCCACCAACTCTACTATTTTTATTGAAGCTGGCATATATACATATATATATATCTGTATGTATGTATTTTTAAGCAACTAATGCTTTAGGGAGGTTTCCACCCATAAAACTAGGATCATTAAAACTTTAGCCCCAACCTTTCTTCTAGGCCAGTAGAAGACTGACTGTGGAAGCCAGGTTATCTAATCACGGTATCCACAACTCTTCAGCAATCATATCACTGAACAGGCATCCAGAGTCAATAAAGGAAAATGAAAAGCAATTTGGCCTAGAGATGGGATCTGGTTCAACTGAGACTTCCGATTTCCCCACTCTGACTCCAGCTGATGGGCCAAGGCAACGGCGATGCATTGGCTACTTCAGGGTAAACTCTGGCTTCATTCCTTACCATGAATTTCTCAGCACTTCAACAATAATTTAGAAGAGAACTTTAAATTAAATTAAAGGCTTATACTAGTAGAATAGTTACCACTCTTTTGTTGCAACTATTTTGGCTCCATTTTGTTCTGATGAGTATCTATTACATGGCAATATTTCAAATCCACTGTCAGTTGCAAACATTCGCAAATAAATAAATACCTAAAACAGGAAAAAAAAATTGATAATGACTTTAAATGGTATACCCTGCTAGACTTTCTTACAATTATAAAAGCAAACCACCCGCAATGATGAAAAAAATGTAAGATCTAGCCTGAGCAACATAGCGAGACCCTGTCTCTACGAAAAACATTAGCCAAGCATGATGGCATGTACCTTTAGTGCCAGCTACGTGGGAGGCTGAGAGGAAGAATCACTTGAGCCCAAGAGATGGAAGCTGCAGTGAGCCATAATCAGGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGATTCTGCCTCTAAAAAAACAATAAAATAAACAAAAAAAGTAAGATCATTAGGTAACAAACTTTATTGTTACTCAAGAGTTTTGAATGTCACAATTTTTCTCATTTTGCAATATTTGCATTACAGTAACTAGCTGAACACCTCTAAACAAAAAATTCAAAATCCTCCCATGAGCATTTCCTTTGAGTGTCAGGTCGGTGTTCAAAAAGTTTCAGATTTTGGAGCATTTCAAATTTTGGGGTTAAGGGTACTCACTCTGTATGAGTACCTAATGGCTTGTTTCCCTTAAGGCTCATAATGAATTTCACCTCTATATGACAAAGTTTTCTCTCCTTTTTTGGTTTTAGAGACAGGGTCTTGCTCTGTCTCCCAGGGCTGGAGCGCAGTGGCATGATCATAGCTCAGAGCAGCCTCTAACTCTTGGGCACAAGCAATGCTTCTGGCTCTGCTTCCTGAGTAGCCGGAACTACAAACTACAAAGGTACACACTACTATGCCTAGCTAATTTTTTTATTCTTATTTTTTTAGAGATGGAGTCTTGCTATGTTGCCCAGGCTGGTCTCGAAGTCCTGGCCTCAAGCAATACTCCCATCTTAGCCCCCACAAAGTGCTGGGATTACAAGCATGAGCCACTGAGCCTGGCCCAGTTTTTTCTCTGGACTGTCATCCAAATGACTGTATGTGTTACAAGATCTTCAGACTGATTAGTTTTATGAAAAATAAATTTAAAATTTCAGTATTAACTAACATTTAGGGTTTTAATTTACTTCACTATTCTTATCCAAATAGGTTAACAGCATCAGTCTTAATAAACTTACATGTTCTTTGAATAATTTCTCCTGCATTTTATTCTTGTTGAGAAAATAGTGCCGTGCCCATTCGCCTGAAGTCAAACATTTGAAGGCTTTCTCCAAGTGTTCATCTTTCTTAAAACGTTCAATTACTTCCTTTAGTTCTTCCTGCCTTCCTTTAATAGGCCTAAATCTGAAAGAAATCAAAAGAATGAATGGGTTATCTGCCACAATCCTTGCGCCACTGATCCATCTTAACAGATCTTGAGAAAGAGCTAATACCCTAAAAACAGCCATGGTTATCAGAGCAAAGATCTAAGAGAAGAGAACAACAATCAATAGTCTTGATTACTACTATTCAAGTAATACTGATCACCTGGATACGCAAGTTCTCTTTTTTCAATCTGTTATTTTAATATTTTTATTTCACTGTTATCTCAGTAACTTCTCTTTTTTCAATCTGTTATTTTAATTATTTTTATTTCACTGTTATCTCATTAACTGTGAGGTGAGCAGACGATTCAAACAAAAGCTGTCTGATTCAGACTTACACTAGTCGTCAACTTTGGGAGACACAAAATCAAAGCTCTAGAATACAGCACACCTAATTTAGAGTTAGAATGACAAGAATCTTTTTAAAACATGCAAAATCAAGCTGGAAGAGTGCCAGGCAATGAATTTCAGAAGTATGATGATGTAAACAAAACCATGCCATACACAAAAACATTCTTTATGTACACAGTCAGAAAAAACCCCAAACTAAGTATTCCAACAGGCTTCGAAACACACCTTGATGTTCTAACCACCCATGTCAAAGTCATCTTTGATGACTGCATTCAGAGAACAAAACGAGTACAAGCAGTGTTAACTCTAGTGGTGAAATTGCTATACTGGTAATGTAGGAAAACTGATGGGGTAGAGTTGTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTGGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCTTGCCTCAGCCTCCCATGTAGCTGGGATGACAGGCGTGCGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACCATGTTGGCCAGGCTGGTCTTGAACTCCTAACCTCAAGTGGTCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACTGCGCCTGGCCTGCAGGGGTAGAATTGAAAAGGCTTCCATTGTAGAATCAGCCACACTGATGTCTTCAGAATATTATCCCATTAGGTCTGTATTTATGCATGATGCAGTCATGGCCCAAGCAAGACAAATTTGTGAACCCCTCATTCTAAAGCTGTGTTTTCAGTAAAACGTGTACTATAAAGTTACTAGCATCTTAATTTCAAATTTTCTTTTCATGTCAATTTCATAAAGCTAATTCTCCCAAATAAAGTTTTTATTTTAAAAAAAAGTTTTATTTTATTTTCATAAAGCTAATTCTAACCGGATTATGGCCCGGTATGGTGGCTCTCACCTATAATCCCAGCACTTTGGGAGGTCGAGGCGGATGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACCTGGTGAAACCCCGTCTCTAAAATGCAAAAAATTAGCCAGGCCCACGTAGTGGTACACGCCTGTAGTCCTAGGTACTCAGGAGGCTGAGGCAGGGGAATTGCTTGAACTCGAGAGTTGAAGTTGGAGTGAGCCAAGATCGCGTCACTGCACTTCAGCCTGGTGACAGAGCAAGACTCTGTATCAAAAAAACAAAACAAAACGTCCAACAGAAAAAAGGAATCACCGATTGCCATTCAAATAAAATACATTAAGAAAAAATATTAGTGGTTCAGGAGAAAAAAATCTTTATGTGTCTTACTCTGACATTTAAAATTGTACATTTCATAAACCTGAATATGCTAAAATTGAGGTAAGATCTAGCACAAACTCCAGCAAAGGAAGCATTCAGCAGAATTTTTTTTCCTAGAGAAGCTATCATATATGTATTCATAGTATTTCAGTAAGATTTCAAGCCACAGTATTTCATC
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CATGATAGGAAAGAAGATACAGTAGTATATTCTCTTTCATCTGTAACTTTTATCCCTTTTAGCTGGGCTCAACTCTGACTTAATTTTGAGATAGAGTCTCACTCTATTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTATAGCCTCTGTCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCACCCGAGTAGCTAGGACTACAGGTGTGTGCTACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCAATGCCCCCCACCAACTCTACTATTTTTATTGAAGCTGGCATATATACATATATATATATCTGTATGTATGTATTTTTAAGCAACTAATGCTTTAGGGAGGTTTCCACCCATAAAACTAGGATCATTAAAACTTTAGCCCCAACCTTTCTTCTAGGCCAGTAGAAGACTGACTGTGGAAGCCAGGTTATCTAATCACGGTATCCACAACTCTTCAGCAATCATATCACTGAACAGGCATCCAGAGTCAATAAAGGAAAATGAAAAGCAATTTGGCCTAGAGATGGGATCTGGTTCAACTGAGACTTCCGATTTCCCCACTCTGACTCCAGCTGATGGGCCAAGGCAACGGCGATGCATTGGCTACTTCAGGGTAAACTCTGGCTTCATTCCTTACCATGAATTTCTCAGCACTTCAACAATAATTTAGAAGAGAACTTTAAATTAAATTAAAGGCTTATACTAGTAGAATAGTTACCACTCTTTTGTTGCAACTATTTTGGCTCCATTTTGTTCTGATGAGTATCTATTACATGGCAATATTTCAAATCCACTGTCAGTTGCAAACATTCGCAAATAAATAAATACCTAAAACAGGAAAAAAAAATTGATAATGACTTTAAATGGTATACCCTGCTAGACTTTCTTACAATTATAAAAGCAAACCACCCGCAATGATGAAAAAAATGTAAGATCTAGCCTGAGCAACATAGCGAGACCCTGTCTCTACGAAAAACATTAGCCAAGCATGATGGCATGTACCTTTAGTGCCAGCTACGTGGGAGGCTGAGAGGAAGAATCACTTGAGCCCAAGAGATGGAAGCTGCAGTGAGCCATAATCAGGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGATTCTGCCTCTAAAAAAACAATAAAATAAACAAAAAAAGTAAGATCATTAGGTAACAAACTTTATTGTTACTCAAGAGTTTTGAATGTCACAATTTTTCTCATTTTGCAATATTTGCATTACAGTAACTAGCTGAACACCTCTAAACAAAAAATTCAAAATCCTCCCATGAGCATTTCCTTTGAGTGTCAGGTCGGTGTTCAAAAAGTTTCAGATTTTGGAGCATTTCAAATTTTGGGGTTAAGGGTACTCACTCTGTATGAGTACCTAATGGCTTGTTTCCCTTAAGGCTCATAATGAATTTCACCTCTATATGACAAAGTTTTCTCTCCTTTTTTGGTTTTAGAGACAGGGTCTTGCTCTGTCTCCCAGGGCTGGAGCGCAGTGGCATGATCATAGCTCAGAGCAGCCTCTAACTCTTGGGCACAAGCAATGCTTCTGGCTCTGCTTCCTGAGTAGCCGGAACTACAAACTACAAAGGTACACACTACTATGCCTAGCTAATTTTTTTATTCTTATTTTTTTAGAGATGGAGTCTTGCTATGTTGCCCAGGCTGGTCTCGAAGTCCTGGCCTCAAGCAATACTCCCATCTTAGCCCCCACAAAGTGCTGGGATTACAAGCATGAGCCACTGAGCCTGGCCCAGTTTTTTCTCTGGACTGTCATCCAAATGACTGTATGTGTTACAAGATCTTCAGACTGATTAGTTTTATGAAAAATAAATTTAAAATTTCAGTATTAACTAACATTTAGGGTTTTAATTTACTTCACTATTCTTATCCAAATAGGTTAACAGCATCAGTCTTAATAAACTTACATCTTCTTTGAATAATTTCTCCTGCATTTTATTCTTGTTGAGAAAATAGTGCCGTGCCCATTCGCCTGAAGTCAAACATTTGAAGGCTTTCTCCAAGTGTTCATCTTTCTTAAAACGTTCAATTACTTCCTTTAGTTCTTCCTGCCTTCCTTTAATAGGCCTAAATCTGAAAGAAATCAAAAGAATGAATGGGTTATCTGCCACAATCCTTGCGCCACTGATCCATCTTAACAGATCTTGAGAAAGAGCTAATACCCTAAAAACAGCCATGGTTATCAGAGCAAAGATCTAAGAGAAGAGAACAACAATCAATAGTCTTGATTACTACTATTCAAGTAATACTGATCACCTGGATACGCAAGTTCTCTTTTTTCAATCTGTTATTTTAATATTTTTATTTCACTGTTATCTCAGTAACTTCTCTTTTTTCAATCTGTTATTTTAATTATTTTTATTTCACTGTTATCTCATTAACTGTGAGGTGAGCAGACGATTCAAACAAAAGCTGTCTGATTCAGACTTACACTAGTCGTCAACTTTGGGAGACACAAAATCAAAGCTCTAGAATACAGCACACCTAATTTAGAGTTAGAATGACAAGAATCTTTTTAAAACATGCAAAATCAAGCTGGAAGAGTGCCAGGCAATGAATTTCAGAAGTATGATGATGTAAACAAAACCATGCCATACACAAAAACATTCTTTATGTACACAGTCAGAAAAAACCCCAAACTAAGTATTCCAACAGGCTTCGAAACACACCTTGATGTTCTAACCACCCATGTCAAAGTCATCTTTGATGACTGCATTCAGAGAACAAAACGAGTACAAGCAGTGTTAACTCTAGTGGTGAAATTGCTATACTGGTAATGTAGGAAAACTGATGGGGTAGAGTTGTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTGGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCTTGCCTCAGCCTCCCATGTAGCTGGGATGACAGGCGTGCGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACCATGTTGGCCAGGCTGGTCTTGAACTCCTAACCTCAAGTGGTCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACTGCGCCTGGCCTGCAGGGGTAGAATTGAAAAGGCTTCCATTGTAGAATCAGCCACACTGATGTCTTCAGAATATTATCCCATTAGGTCTGTATTTATGCATGATGCAGTCATGGCCCAAGCAAGACAAATTTGTGAACCCCTCATTCTAAAGCTGTGTTTTCAGTAAAACGTGTACTATAAAGTTACTAGCATCTTAATTTCAAATTTTCTTTTCATGTCAATTTCATAAAGCTAATTCTCCCAAATAAAGTTTTTATTTTAAAAAAAAGTTTTATTTTATTTTCATAAAGCTAATTCTAACCGGATTATGGCCCGGTATGGTGGCTCTCACCTATAATCCCAGCACTTTGGGAGGTCGAGGCGGATGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACCTGGTGAAACCCCGTCTCTAAAATGCAAAAAATTAGCCAGGCCCACGTAGTGGTACACGCCTGTAGTCCTAGGTACTCAGGAGGCTGAGGCAGGGGAATTGCTTGAACTCGAGAGTTGAAGTTGGAGTGAGCCAAGATCGCGTCACTGCACTTCAGCCTGGTGACAGAGCAAGACTCTGTATCAAAAAAACAAAACAAAACGTCCAACAGAAAAAAGGAATCACCGATTGCCATTCAAATAAAATACATTAAGAAAAAATATTAGTGGTTCAGGAGAAAAAAATCTTTATGTGTCTTACTCTGACATTTAAAATTGTACATTTCATAAACCTGAATATGCTAAAATTGAGGTAAGATCTAGCACAAACTCCAGCAAAGGAAGCATTCAGCAGAATTTTTTTTCCTAGAGAAGCTATCATATATGTATTCATAGTATTTCAGTAAGATTTCAAGCCACAGTATTTCATC
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Task1_train_16154
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A genomic change on Chromosome 11 affects LRP5 (LDL receptor related protein 5). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Osteogenesis imperfecta
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TAGGGATATATTAAGCCTGTTTTGATGTGTTTATTGGCCATTTATATGTCATCTTTGGAGAAATGTCTGTTCAAGTTGTTTGCCCATTTTTGAGTTGGCTTAGTTGTTTTCTCATTGTTGAGTTTTAGGAGTTCTCTGTATTTCATGGATATTAATCTCTTAGTAGATCTATGATTTGGAAATATTTTCTCTCATTCTGTGGGTTGCCTTTTTACTCTCTCGATAGTGTCTTTTGATGCACAAAATCTTTAGCTTCCCATGAAGTCCCGTTTGTCTTTATTTGTGGCCTATGCCTTCCTGTTGTTTGACTTTCACAGTGTCCCTCGTTGCCACAAAGAACTGTAGACCTAAGATGATGACAGCACGGGTGGGGCGGCGGAGGCGCCGCTGTCATTTTCCTGGCCTCAGGTCCTCTGTGTGTCCTCCCATCCTGTGGAGCATGTCTCCTGGGAATGGGAGGGGCCAGGATTTGAGCCAGTGCTTGTCTTGGCAGGGAGGCCTGTGCTCGGAACCATCTACCCCACTGCGCTGGGGTCTCCTGGGCCATGCTCTGGCCCTTTGTGTTCCCAGCTACCCTCATAGAGGCTGCAAATCTTTCCCCTGCTGAAATGAAACCAACTGAACTAACTACAGGATTCAGTTCTGTGATTGTCATTGGCTGAGTTGAGTTTGTTTTGGCTTTCTCTTTCTTGGTGAAGGTGGGAGTGTGGGGTTGGCTGGGCTCCCCCATCTGCGCAGGAGGACCCAGGGGTCTGCAGTTTTCATGAGGAATGTCAGCTGTTTCAAGCCAAGGCTTCAGATGTTTTTTGGGGGTGTTTGTGGCCAGCCCAGCCTAGCCCTGCTGACAGCAGACACGGACTGATGGAGCTCCCTGGAGGCCCTTAACCTCCTCCTGTCCACATCTTGTGTTCACTCCTCATGTGGCTTCTTAGTCCCTCTGAGTCTGTGTTGGGGGTTGCTGGACCCTCCTGGTCCGACGTCTGAGGTGTCTGGTGGGGTGATGGTCTGAAGGCCTCTCCTGATTTCTCATTGAGCCCGTTGTGGGAATGAGACCGTTGTCTGTGAGATGAGGCTTCTTGCACAGGCAGAAGGGGCTGAGGGCTGCGGTGCAGAGGGAGGTGAGGGAGCCAGCCTGGCCGCAGGCAGATCAGGAATGCTTGGGGTGGGGTGGTGGAGAGAAGTGTAGGTGAGGCCAGAGGCCAAGGCCTTGGAGGCCAGGCTAGGGGGTCTGACCTTGTTCTGCATGGCACTGGCACAGGGAGCTGTGGAAGGTGTCTGAGCCAAGGGGTGGCATTCCAGAGTGACCCTTTAAATGTAGGAATGTCCAGAAGCAGGGTGGGAGAAACATGGAATACAGGGGTGGATGGGAAGCTGATGCCACGGCCAAGGAAACGGGCCTGAGCTTGGACAGTGGTCAAAGACTTGTAAGGGAATCTTGAGGCTCTGTCTGGCCTGGGCTCTGAACCCCTCAAAAAATGTGGCCCTGTGGCTGGGTCTGTAGCGAGCAGCATGGCCAGTGCTGTGCCTGCATGTCCCCATCCCCTGTGTCAGGCCAACAAAGGGGATGTGGCTTCTCTGCAGAACAGGACAGGGCCCCTGTAGCCTCTGGAGGACGATGTGGGAGGTTTTGGGCATGGCAGGAAGGGTCACCCATATCTGGGGGAACAGACGTAACAGTTGGTAAACAAACAGGTGCTGTCACCGAATGTGGGAAGAAGGCTGTTTGCTGCGCTGCAGGAGCCTCTGAATGATGCGGGCCGGGGCTGCCCAGGCAACTTCCTGACAACGCCTTAGGGGTGGGAGGAAGGAACTGGAGGTCTTGGGCATGGGCAGGGCAGTACCAGGAGTGCTCTGGGCATAGTGCTCCATCCCAGGGCTGTGTATCTTGCTGGCTTAGCCAGTGGCCCTCACGGTTTGCTTCTGCCCCACAGCCTCGCCGCTCCTGCTATTTGCCAACCGCCGGGACGTACGGCTGGTGGACGCCGGCGGAGTCAAGCTGGAGTCCACCATCGTGGTCAGCGGCCTGGAGGATGCGGCCGCAGTGGACTTCCAGTTTTCCAAGGGAGCCGTGTACTGGACAGACGTGAGCGAGGAGGCCATCAAGCAGACCTACCTGAACCAGACGGGGGCCGCCGTGCAGAACGTGGTCATCTCCGGCCTGGTCTCTCCCGACGGCCTCGCCTGCGACTGGGTGGGCAAGAAGCTGTACTGGACGGACTCAGAGACCAACCGCATCGAGGTGGCCAACCTCAATGGCACATCCCGGAAGGTGCTCTTCTGGCAGGACCTTGACCAGCCGAGGGCCATCGCCTTGGACCCCGCTCACGGGTAAACCCTGCTGCGACTCCACCTGGGTCCAGGGGGCGGGGAGTGTCACCATCTCTCTCTCGAATTTGCATGAGCCCAAGTTGTTTTTCAGAAAAAGGGTGTGACTCTGAAAATGAACCCGTGGGGGGGTTGGCTCAGGCCTGTAACCCCAGCACTCGGTGTGACTCTGAAAATGAACCCGTGGGGGTGTTGGCTCAGGCCTGTAACCCCAGCACTCGGTGTCACTCTTAAAATGAACCCGTGGGGGGGTTGGCTCAGGCCTGTAACCCCAGCACTCGGTGCGACTCTGAAAATGAACTCGTGGGGGGGTTGGTTCAGGCCTGTAACCCCAGCACTCGGTGTCACTCTTAAAATGAACCCGTGGGGGGGTTGGCTCAGGCCTGTAACCCCAGCACTCGGTGCGACTCTGAAAATGAACCCGTGGGGGTGTTGGCTCAGGCCTGTAATCCCAGCACTCTGGGAGGCCAAGGCGGGCAGATCACCTGAGTCCAGGAATTCAAGACCACACTGGGCAACATGGTGAGACCCCATTTCTACAAAGTATACAAAAATGAATCGGGTGTGATGGTATGCACCTGTAATCCCAGCTTCTTGGGAGGCTGAGGTAGGAGGATCATTTGAGCCTGGGAGATCGAGGCTGCAGTGAGCTGTGATCCCACCACTGCACTCCAGCCTGGGCGACAAAGTGAGGAGATCCTGTCTCAAAAAAAAAAAAGAGCTCAGCTTTCAAGATTTGTTATTGTTGAAGGAATTACTTCCCCTTGAGATTCCATAGTTATGTTCCTTTTTTTTTTTTTTTTTTTTAATTGAGATGGAGTCTCCCTTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTTCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTACAGGCGCCCACCACCACGCCCAGCTAATTTTTGTAGTTTTGGTACAGATGGGGTTTCACCATGGTGTCTAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAACCACCGTGCCTGGCCCATAGTTATGTTCCTTTTTAAAACTTGCATGTCTGAGGCAACCGATGTGGTTGGCCATGGGTTTGAATGGTTAAACACATCTTTGCTGTGTGTATGGTGGGCGGCCTGGGAAGTGCGGACGCTCAGGCAGGTGGAATTTGCACCTTCTCCTGGCTTTCTAATTGCATTGGCTGAAAAAGTGCAGCTCCTTGTCTGGAAGCAGAACCTGCTGGGAGTGGTTCTCGGGTCCGTTCTGGAAGCTGCCCTGTGTCCTCCTCAGCTCCTAGTCTGGCTGAGTTCACCTGGGCCCTTGAAGGCTCAGGGCCTGGCCGTGATCCCAGGTGGGGAGAGCGTGGGTGGCAGGAAAGCTTTGGAGTCGAAGTCCGGGGTGGAGAGTTTAAGGGGAGGTGGCCCAGCTCCACTGGCCAGCTAGGCCAGGTCACCCCAGACTCCCGAGCAGAGGGAACAGTTTGCTTGGCCACCCCTTGTCCCTCCTTTGTCCCTTTTCTTGCAGCCTGGGAGTGACTCTGGGGGCCGTACACACACCCTTACCTGGGCTGTGCTAAGCCCTGGCCCTTGCTGACCTGTCAGGTTCTGTGCTGGGTCAGTGTCAGAACTGGTTGGCAGAGGTCTTGACTAGAACACAAGAGCCATTTCCCACCACCCCCAGGCTCAGTTGGAAGCCCTTTGCCTGTTAGTT
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TAGGGATATATTAAGCCTGTTTTGATGTGTTTATTGGCCATTTATATGTCATCTTTGGAGAAATGTCTGTTCAAGTTGTTTGCCCATTTTTGAGTTGGCTTAGTTGTTTTCTCATTGTTGAGTTTTAGGAGTTCTCTGTATTTCATGGATATTAATCTCTTAGTAGATCTATGATTTGGAAATATTTTCTCTCATTCTGTGGGTTGCCTTTTTACTCTCTCGATAGTGTCTTTTGATGCACAAAATCTTTAGCTTCCCATGAAGTCCCGTTTGTCTTTATTTGTGGCCTATGCCTTCCTGTTGTTTGACTTTCACAGTGTCCCTCGTTGCCACAAAGAACTGTAGACCTAAGATGATGACAGCACGGGTGGGGCGGCGGAGGCGCCGCTGTCATTTTCCTGGCCTCAGGTCCTCTGTGTGTCCTCCCATCCTGTGGAGCATGTCTCCTGGGAATGGGAGGGGCCAGGATTTGAGCCAGTGCTTGTCTTGGCAGGGAGGCCTGTGCTCGGAACCATCTACCCCACTGCGCTGGGGTCTCCTGGGCCATGCTCTGGCCCTTTGTGTTCCCAGCTACCCTCATAGAGGCTGCAAATCTTTCCCCTGCTGAAATGAAACCAACTGAACTAACTACAGGATTCAGTTCTGTGATTGTCATTGGCTGAGTTGAGTTTGTTTTGGCTTTCTCTTTCTTGGTGAAGGTGGGAGTGTGGGGTTGGCTGGGCTCCCCCATCTGCGCAGGAGGACCCAGGGGTCTGCAGTTTTCATGAGGAATGTCAGCTGTTTCAAGCCAAGGCTTCAGATGTTTTTTGGGGGTGTTTGTGGCCAGCCCAGCCTAGCCCTGCTGACAGCAGACACGGACTGATGGAGCTCCCTGGAGGCCCTTAACCTCCTCCTGTCCACATCTTGTGTTCACTCCTCATGTGGCTTCTTAGTCCCTCTGAGTCTGTGTTGGGGGTTGCTGGACCCTCCTGGTCCGACGTCTGAGGTGTCTGGTGGGGTGATGGTCTGAAGGCCTCTCCTGATTTCTCATTGAGCCCGTTGTGGGAATGAGACCGTTGTCTGTGAGATGAGGCTTCTTGCACAGGCAGAAGGGGCTGAGGGCTGCGGTGCAGAGGGAGGTGAGGGAGCCAGCCTGGCCGCAGGCAGATCAGGAATGCTTGGGGTGGGGTGGTGGAGAGAAGTGTAGGTGAGGCCAGAGGCCAAGGCCTTGGAGGCCAGGCTAGGGGGTCTGACCTTGTTCTGCATGGCACTGGCACAGGGAGCTGTGGAAGGTGTCTGAGCCAAGGGGTGGCATTCCAGAGTGACCCTTTAAATGTAGGAATGTCCAGAAGCAGGGTGGGAGAAACATGGAATACAGGGGTGGATGGGAAGCTGATGCCACGGCCAAGGAAACGGGCCTGAGCTTGGACAGTGGTCAAAGACTTGTAAGGGAATCTTGAGGCTCTGTCTGGCCTGGGCTCTGAACCCCTCAAAAAATGTGGCCCTGTGGCTGGGTCTGTAGCGAGCAGCATGGCCAGTGCTGTGCCTGCATGTCCCCATCCCCTGTGTCAGGCCAACAAAGGGGATGTGGCTTCTCTGCAGAACAGGACAGGGCCCCTGTAGCCTCTGGAGGACGATGTGGGAGGTTTTGGGCATGGCAGGAAGGGTCACCCATATCTGGGGGAACAGACGTAACAGTTGGTAAACAAACAGGTGCTGTCACCGAATGTGGGAAGAAGGCTGTTTGCTGCGCTGCAGGAGCCTCTGAATGATGCGGGCCGGGGCTGCCCAGGCAACTTCCTGACAACGCCTTAGGGGTGGGAGGAAGGAACTGGAGGTCTTGGGCATGGGCAGGGCAGTACCAGGAGTGCTCTGGGCATAGTGCTCCATCCCAGGGCTGTGTATCTTGCTGGCTTAGCCAGTGGCCCTCACGGTTTGCTTCTGCCCCACAGCCTCGCCGCTCCTGCTATTTGCCAACCGCCGGGACGTACGGCTGGTGGACGCCGGCGGAGTCAAGCTGGAGTCCACCATCGTGGTCAGCGGCCTGGAGGATGCGGCCGCAGTGGACTACCAGTTTTCCAAGGGAGCCGTGTACTGGACAGACGTGAGCGAGGAGGCCATCAAGCAGACCTACCTGAACCAGACGGGGGCCGCCGTGCAGAACGTGGTCATCTCCGGCCTGGTCTCTCCCGACGGCCTCGCCTGCGACTGGGTGGGCAAGAAGCTGTACTGGACGGACTCAGAGACCAACCGCATCGAGGTGGCCAACCTCAATGGCACATCCCGGAAGGTGCTCTTCTGGCAGGACCTTGACCAGCCGAGGGCCATCGCCTTGGACCCCGCTCACGGGTAAACCCTGCTGCGACTCCACCTGGGTCCAGGGGGCGGGGAGTGTCACCATCTCTCTCTCGAATTTGCATGAGCCCAAGTTGTTTTTCAGAAAAAGGGTGTGACTCTGAAAATGAACCCGTGGGGGGGTTGGCTCAGGCCTGTAACCCCAGCACTCGGTGTGACTCTGAAAATGAACCCGTGGGGGTGTTGGCTCAGGCCTGTAACCCCAGCACTCGGTGTCACTCTTAAAATGAACCCGTGGGGGGGTTGGCTCAGGCCTGTAACCCCAGCACTCGGTGCGACTCTGAAAATGAACTCGTGGGGGGGTTGGTTCAGGCCTGTAACCCCAGCACTCGGTGTCACTCTTAAAATGAACCCGTGGGGGGGTTGGCTCAGGCCTGTAACCCCAGCACTCGGTGCGACTCTGAAAATGAACCCGTGGGGGTGTTGGCTCAGGCCTGTAATCCCAGCACTCTGGGAGGCCAAGGCGGGCAGATCACCTGAGTCCAGGAATTCAAGACCACACTGGGCAACATGGTGAGACCCCATTTCTACAAAGTATACAAAAATGAATCGGGTGTGATGGTATGCACCTGTAATCCCAGCTTCTTGGGAGGCTGAGGTAGGAGGATCATTTGAGCCTGGGAGATCGAGGCTGCAGTGAGCTGTGATCCCACCACTGCACTCCAGCCTGGGCGACAAAGTGAGGAGATCCTGTCTCAAAAAAAAAAAAGAGCTCAGCTTTCAAGATTTGTTATTGTTGAAGGAATTACTTCCCCTTGAGATTCCATAGTTATGTTCCTTTTTTTTTTTTTTTTTTTTAATTGAGATGGAGTCTCCCTTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTTCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTACAGGCGCCCACCACCACGCCCAGCTAATTTTTGTAGTTTTGGTACAGATGGGGTTTCACCATGGTGTCTAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAACCACCGTGCCTGGCCCATAGTTATGTTCCTTTTTAAAACTTGCATGTCTGAGGCAACCGATGTGGTTGGCCATGGGTTTGAATGGTTAAACACATCTTTGCTGTGTGTATGGTGGGCGGCCTGGGAAGTGCGGACGCTCAGGCAGGTGGAATTTGCACCTTCTCCTGGCTTTCTAATTGCATTGGCTGAAAAAGTGCAGCTCCTTGTCTGGAAGCAGAACCTGCTGGGAGTGGTTCTCGGGTCCGTTCTGGAAGCTGCCCTGTGTCCTCCTCAGCTCCTAGTCTGGCTGAGTTCACCTGGGCCCTTGAAGGCTCAGGGCCTGGCCGTGATCCCAGGTGGGGAGAGCGTGGGTGGCAGGAAAGCTTTGGAGTCGAAGTCCGGGGTGGAGAGTTTAAGGGGAGGTGGCCCAGCTCCACTGGCCAGCTAGGCCAGGTCACCCCAGACTCCCGAGCAGAGGGAACAGTTTGCTTGGCCACCCCTTGTCCCTCCTTTGTCCCTTTTCTTGCAGCCTGGGAGTGACTCTGGGGGCCGTACACACACCCTTACCTGGGCTGTGCTAAGCCCTGGCCCTTGCTGACCTGTCAGGTTCTGTGCTGGGTCAGTGTCAGAACTGGTTGGCAGAGGTCTTGACTAGAACACAAGAGCCATTTCCCACCACCCCCAGGCTCAGTTGGAAGCCCTTTGCCTGTTAGTT
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Task1_train_16155
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Here is a genetic alteration in LRP5 (LDL receptor related protein 5) on Chromosome 11. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Osteogenesis imperfecta
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AGGGATATATTAAGCCTGTTTTGATGTGTTTATTGGCCATTTATATGTCATCTTTGGAGAAATGTCTGTTCAAGTTGTTTGCCCATTTTTGAGTTGGCTTAGTTGTTTTCTCATTGTTGAGTTTTAGGAGTTCTCTGTATTTCATGGATATTAATCTCTTAGTAGATCTATGATTTGGAAATATTTTCTCTCATTCTGTGGGTTGCCTTTTTACTCTCTCGATAGTGTCTTTTGATGCACAAAATCTTTAGCTTCCCATGAAGTCCCGTTTGTCTTTATTTGTGGCCTATGCCTTCCTGTTGTTTGACTTTCACAGTGTCCCTCGTTGCCACAAAGAACTGTAGACCTAAGATGATGACAGCACGGGTGGGGCGGCGGAGGCGCCGCTGTCATTTTCCTGGCCTCAGGTCCTCTGTGTGTCCTCCCATCCTGTGGAGCATGTCTCCTGGGAATGGGAGGGGCCAGGATTTGAGCCAGTGCTTGTCTTGGCAGGGAGGCCTGTGCTCGGAACCATCTACCCCACTGCGCTGGGGTCTCCTGGGCCATGCTCTGGCCCTTTGTGTTCCCAGCTACCCTCATAGAGGCTGCAAATCTTTCCCCTGCTGAAATGAAACCAACTGAACTAACTACAGGATTCAGTTCTGTGATTGTCATTGGCTGAGTTGAGTTTGTTTTGGCTTTCTCTTTCTTGGTGAAGGTGGGAGTGTGGGGTTGGCTGGGCTCCCCCATCTGCGCAGGAGGACCCAGGGGTCTGCAGTTTTCATGAGGAATGTCAGCTGTTTCAAGCCAAGGCTTCAGATGTTTTTTGGGGGTGTTTGTGGCCAGCCCAGCCTAGCCCTGCTGACAGCAGACACGGACTGATGGAGCTCCCTGGAGGCCCTTAACCTCCTCCTGTCCACATCTTGTGTTCACTCCTCATGTGGCTTCTTAGTCCCTCTGAGTCTGTGTTGGGGGTTGCTGGACCCTCCTGGTCCGACGTCTGAGGTGTCTGGTGGGGTGATGGTCTGAAGGCCTCTCCTGATTTCTCATTGAGCCCGTTGTGGGAATGAGACCGTTGTCTGTGAGATGAGGCTTCTTGCACAGGCAGAAGGGGCTGAGGGCTGCGGTGCAGAGGGAGGTGAGGGAGCCAGCCTGGCCGCAGGCAGATCAGGAATGCTTGGGGTGGGGTGGTGGAGAGAAGTGTAGGTGAGGCCAGAGGCCAAGGCCTTGGAGGCCAGGCTAGGGGGTCTGACCTTGTTCTGCATGGCACTGGCACAGGGAGCTGTGGAAGGTGTCTGAGCCAAGGGGTGGCATTCCAGAGTGACCCTTTAAATGTAGGAATGTCCAGAAGCAGGGTGGGAGAAACATGGAATACAGGGGTGGATGGGAAGCTGATGCCACGGCCAAGGAAACGGGCCTGAGCTTGGACAGTGGTCAAAGACTTGTAAGGGAATCTTGAGGCTCTGTCTGGCCTGGGCTCTGAACCCCTCAAAAAATGTGGCCCTGTGGCTGGGTCTGTAGCGAGCAGCATGGCCAGTGCTGTGCCTGCATGTCCCCATCCCCTGTGTCAGGCCAACAAAGGGGATGTGGCTTCTCTGCAGAACAGGACAGGGCCCCTGTAGCCTCTGGAGGACGATGTGGGAGGTTTTGGGCATGGCAGGAAGGGTCACCCATATCTGGGGGAACAGACGTAACAGTTGGTAAACAAACAGGTGCTGTCACCGAATGTGGGAAGAAGGCTGTTTGCTGCGCTGCAGGAGCCTCTGAATGATGCGGGCCGGGGCTGCCCAGGCAACTTCCTGACAACGCCTTAGGGGTGGGAGGAAGGAACTGGAGGTCTTGGGCATGGGCAGGGCAGTACCAGGAGTGCTCTGGGCATAGTGCTCCATCCCAGGGCTGTGTATCTTGCTGGCTTAGCCAGTGGCCCTCACGGTTTGCTTCTGCCCCACAGCCTCGCCGCTCCTGCTATTTGCCAACCGCCGGGACGTACGGCTGGTGGACGCCGGCGGAGTCAAGCTGGAGTCCACCATCGTGGTCAGCGGCCTGGAGGATGCGGCCGCAGTGGACTTCCAGTTTTCCAAGGGAGCCGTGTACTGGACAGACGTGAGCGAGGAGGCCATCAAGCAGACCTACCTGAACCAGACGGGGGCCGCCGTGCAGAACGTGGTCATCTCCGGCCTGGTCTCTCCCGACGGCCTCGCCTGCGACTGGGTGGGCAAGAAGCTGTACTGGACGGACTCAGAGACCAACCGCATCGAGGTGGCCAACCTCAATGGCACATCCCGGAAGGTGCTCTTCTGGCAGGACCTTGACCAGCCGAGGGCCATCGCCTTGGACCCCGCTCACGGGTAAACCCTGCTGCGACTCCACCTGGGTCCAGGGGGCGGGGAGTGTCACCATCTCTCTCTCGAATTTGCATGAGCCCAAGTTGTTTTTCAGAAAAAGGGTGTGACTCTGAAAATGAACCCGTGGGGGGGTTGGCTCAGGCCTGTAACCCCAGCACTCGGTGTGACTCTGAAAATGAACCCGTGGGGGTGTTGGCTCAGGCCTGTAACCCCAGCACTCGGTGTCACTCTTAAAATGAACCCGTGGGGGGGTTGGCTCAGGCCTGTAACCCCAGCACTCGGTGCGACTCTGAAAATGAACTCGTGGGGGGGTTGGTTCAGGCCTGTAACCCCAGCACTCGGTGTCACTCTTAAAATGAACCCGTGGGGGGGTTGGCTCAGGCCTGTAACCCCAGCACTCGGTGCGACTCTGAAAATGAACCCGTGGGGGTGTTGGCTCAGGCCTGTAATCCCAGCACTCTGGGAGGCCAAGGCGGGCAGATCACCTGAGTCCAGGAATTCAAGACCACACTGGGCAACATGGTGAGACCCCATTTCTACAAAGTATACAAAAATGAATCGGGTGTGATGGTATGCACCTGTAATCCCAGCTTCTTGGGAGGCTGAGGTAGGAGGATCATTTGAGCCTGGGAGATCGAGGCTGCAGTGAGCTGTGATCCCACCACTGCACTCCAGCCTGGGCGACAAAGTGAGGAGATCCTGTCTCAAAAAAAAAAAAGAGCTCAGCTTTCAAGATTTGTTATTGTTGAAGGAATTACTTCCCCTTGAGATTCCATAGTTATGTTCCTTTTTTTTTTTTTTTTTTTTAATTGAGATGGAGTCTCCCTTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTTCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTACAGGCGCCCACCACCACGCCCAGCTAATTTTTGTAGTTTTGGTACAGATGGGGTTTCACCATGGTGTCTAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAACCACCGTGCCTGGCCCATAGTTATGTTCCTTTTTAAAACTTGCATGTCTGAGGCAACCGATGTGGTTGGCCATGGGTTTGAATGGTTAAACACATCTTTGCTGTGTGTATGGTGGGCGGCCTGGGAAGTGCGGACGCTCAGGCAGGTGGAATTTGCACCTTCTCCTGGCTTTCTAATTGCATTGGCTGAAAAAGTGCAGCTCCTTGTCTGGAAGCAGAACCTGCTGGGAGTGGTTCTCGGGTCCGTTCTGGAAGCTGCCCTGTGTCCTCCTCAGCTCCTAGTCTGGCTGAGTTCACCTGGGCCCTTGAAGGCTCAGGGCCTGGCCGTGATCCCAGGTGGGGAGAGCGTGGGTGGCAGGAAAGCTTTGGAGTCGAAGTCCGGGGTGGAGAGTTTAAGGGGAGGTGGCCCAGCTCCACTGGCCAGCTAGGCCAGGTCACCCCAGACTCCCGAGCAGAGGGAACAGTTTGCTTGGCCACCCCTTGTCCCTCCTTTGTCCCTTTTCTTGCAGCCTGGGAGTGACTCTGGGGGCCGTACACACACCCTTACCTGGGCTGTGCTAAGCCCTGGCCCTTGCTGACCTGTCAGGTTCTGTGCTGGGTCAGTGTCAGAACTGGTTGGCAGAGGTCTTGACTAGAACACAAGAGCCATTTCCCACCACCCCCAGGCTCAGTTGGAAGCCCTTTGCCTGTTAGTTC
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AGGGATATATTAAGCCTGTTTTGATGTGTTTATTGGCCATTTATATGTCATCTTTGGAGAAATGTCTGTTCAAGTTGTTTGCCCATTTTTGAGTTGGCTTAGTTGTTTTCTCATTGTTGAGTTTTAGGAGTTCTCTGTATTTCATGGATATTAATCTCTTAGTAGATCTATGATTTGGAAATATTTTCTCTCATTCTGTGGGTTGCCTTTTTACTCTCTCGATAGTGTCTTTTGATGCACAAAATCTTTAGCTTCCCATGAAGTCCCGTTTGTCTTTATTTGTGGCCTATGCCTTCCTGTTGTTTGACTTTCACAGTGTCCCTCGTTGCCACAAAGAACTGTAGACCTAAGATGATGACAGCACGGGTGGGGCGGCGGAGGCGCCGCTGTCATTTTCCTGGCCTCAGGTCCTCTGTGTGTCCTCCCATCCTGTGGAGCATGTCTCCTGGGAATGGGAGGGGCCAGGATTTGAGCCAGTGCTTGTCTTGGCAGGGAGGCCTGTGCTCGGAACCATCTACCCCACTGCGCTGGGGTCTCCTGGGCCATGCTCTGGCCCTTTGTGTTCCCAGCTACCCTCATAGAGGCTGCAAATCTTTCCCCTGCTGAAATGAAACCAACTGAACTAACTACAGGATTCAGTTCTGTGATTGTCATTGGCTGAGTTGAGTTTGTTTTGGCTTTCTCTTTCTTGGTGAAGGTGGGAGTGTGGGGTTGGCTGGGCTCCCCCATCTGCGCAGGAGGACCCAGGGGTCTGCAGTTTTCATGAGGAATGTCAGCTGTTTCAAGCCAAGGCTTCAGATGTTTTTTGGGGGTGTTTGTGGCCAGCCCAGCCTAGCCCTGCTGACAGCAGACACGGACTGATGGAGCTCCCTGGAGGCCCTTAACCTCCTCCTGTCCACATCTTGTGTTCACTCCTCATGTGGCTTCTTAGTCCCTCTGAGTCTGTGTTGGGGGTTGCTGGACCCTCCTGGTCCGACGTCTGAGGTGTCTGGTGGGGTGATGGTCTGAAGGCCTCTCCTGATTTCTCATTGAGCCCGTTGTGGGAATGAGACCGTTGTCTGTGAGATGAGGCTTCTTGCACAGGCAGAAGGGGCTGAGGGCTGCGGTGCAGAGGGAGGTGAGGGAGCCAGCCTGGCCGCAGGCAGATCAGGAATGCTTGGGGTGGGGTGGTGGAGAGAAGTGTAGGTGAGGCCAGAGGCCAAGGCCTTGGAGGCCAGGCTAGGGGGTCTGACCTTGTTCTGCATGGCACTGGCACAGGGAGCTGTGGAAGGTGTCTGAGCCAAGGGGTGGCATTCCAGAGTGACCCTTTAAATGTAGGAATGTCCAGAAGCAGGGTGGGAGAAACATGGAATACAGGGGTGGATGGGAAGCTGATGCCACGGCCAAGGAAACGGGCCTGAGCTTGGACAGTGGTCAAAGACTTGTAAGGGAATCTTGAGGCTCTGTCTGGCCTGGGCTCTGAACCCCTCAAAAAATGTGGCCCTGTGGCTGGGTCTGTAGCGAGCAGCATGGCCAGTGCTGTGCCTGCATGTCCCCATCCCCTGTGTCAGGCCAACAAAGGGGATGTGGCTTCTCTGCAGAACAGGACAGGGCCCCTGTAGCCTCTGGAGGACGATGTGGGAGGTTTTGGGCATGGCAGGAAGGGTCACCCATATCTGGGGGAACAGACGTAACAGTTGGTAAACAAACAGGTGCTGTCACCGAATGTGGGAAGAAGGCTGTTTGCTGCGCTGCAGGAGCCTCTGAATGATGCGGGCCGGGGCTGCCCAGGCAACTTCCTGACAACGCCTTAGGGGTGGGAGGAAGGAACTGGAGGTCTTGGGCATGGGCAGGGCAGTACCAGGAGTGCTCTGGGCATAGTGCTCCATCCCAGGGCTGTGTATCTTGCTGGCTTAGCCAGTGGCCCTCACGGTTTGCTTCTGCCCCACAGCCTCGCCGCTCCTGCTATTTGCCAACCGCCGGGACGTACGGCTGGTGGACGCCGGCGGAGTCAAGCTGGAGTCCACCATCGTGGTCAGCGGCCTGGAGGATGCGGCCGCAGTGGACTTACAGTTTTCCAAGGGAGCCGTGTACTGGACAGACGTGAGCGAGGAGGCCATCAAGCAGACCTACCTGAACCAGACGGGGGCCGCCGTGCAGAACGTGGTCATCTCCGGCCTGGTCTCTCCCGACGGCCTCGCCTGCGACTGGGTGGGCAAGAAGCTGTACTGGACGGACTCAGAGACCAACCGCATCGAGGTGGCCAACCTCAATGGCACATCCCGGAAGGTGCTCTTCTGGCAGGACCTTGACCAGCCGAGGGCCATCGCCTTGGACCCCGCTCACGGGTAAACCCTGCTGCGACTCCACCTGGGTCCAGGGGGCGGGGAGTGTCACCATCTCTCTCTCGAATTTGCATGAGCCCAAGTTGTTTTTCAGAAAAAGGGTGTGACTCTGAAAATGAACCCGTGGGGGGGTTGGCTCAGGCCTGTAACCCCAGCACTCGGTGTGACTCTGAAAATGAACCCGTGGGGGTGTTGGCTCAGGCCTGTAACCCCAGCACTCGGTGTCACTCTTAAAATGAACCCGTGGGGGGGTTGGCTCAGGCCTGTAACCCCAGCACTCGGTGCGACTCTGAAAATGAACTCGTGGGGGGGTTGGTTCAGGCCTGTAACCCCAGCACTCGGTGTCACTCTTAAAATGAACCCGTGGGGGGGTTGGCTCAGGCCTGTAACCCCAGCACTCGGTGCGACTCTGAAAATGAACCCGTGGGGGTGTTGGCTCAGGCCTGTAATCCCAGCACTCTGGGAGGCCAAGGCGGGCAGATCACCTGAGTCCAGGAATTCAAGACCACACTGGGCAACATGGTGAGACCCCATTTCTACAAAGTATACAAAAATGAATCGGGTGTGATGGTATGCACCTGTAATCCCAGCTTCTTGGGAGGCTGAGGTAGGAGGATCATTTGAGCCTGGGAGATCGAGGCTGCAGTGAGCTGTGATCCCACCACTGCACTCCAGCCTGGGCGACAAAGTGAGGAGATCCTGTCTCAAAAAAAAAAAAGAGCTCAGCTTTCAAGATTTGTTATTGTTGAAGGAATTACTTCCCCTTGAGATTCCATAGTTATGTTCCTTTTTTTTTTTTTTTTTTTTAATTGAGATGGAGTCTCCCTTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTTCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTACAGGCGCCCACCACCACGCCCAGCTAATTTTTGTAGTTTTGGTACAGATGGGGTTTCACCATGGTGTCTAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAACCACCGTGCCTGGCCCATAGTTATGTTCCTTTTTAAAACTTGCATGTCTGAGGCAACCGATGTGGTTGGCCATGGGTTTGAATGGTTAAACACATCTTTGCTGTGTGTATGGTGGGCGGCCTGGGAAGTGCGGACGCTCAGGCAGGTGGAATTTGCACCTTCTCCTGGCTTTCTAATTGCATTGGCTGAAAAAGTGCAGCTCCTTGTCTGGAAGCAGAACCTGCTGGGAGTGGTTCTCGGGTCCGTTCTGGAAGCTGCCCTGTGTCCTCCTCAGCTCCTAGTCTGGCTGAGTTCACCTGGGCCCTTGAAGGCTCAGGGCCTGGCCGTGATCCCAGGTGGGGAGAGCGTGGGTGGCAGGAAAGCTTTGGAGTCGAAGTCCGGGGTGGAGAGTTTAAGGGGAGGTGGCCCAGCTCCACTGGCCAGCTAGGCCAGGTCACCCCAGACTCCCGAGCAGAGGGAACAGTTTGCTTGGCCACCCCTTGTCCCTCCTTTGTCCCTTTTCTTGCAGCCTGGGAGTGACTCTGGGGGCCGTACACACACCCTTACCTGGGCTGTGCTAAGCCCTGGCCCTTGCTGACCTGTCAGGTTCTGTGCTGGGTCAGTGTCAGAACTGGTTGGCAGAGGTCTTGACTAGAACACAAGAGCCATTTCCCACCACCCCCAGGCTCAGTTGGAAGCCCTTTGCCTGTTAGTTC
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Task1_train_16156
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The gene LRP5 (LDL receptor related protein 5) is located on Chromosome 11, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Exudative vitreoretinopathy 4, autosomal dominant
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AGTGTCTTTTGATGCACAAAATCTTTAGCTTCCCATGAAGTCCCGTTTGTCTTTATTTGTGGCCTATGCCTTCCTGTTGTTTGACTTTCACAGTGTCCCTCGTTGCCACAAAGAACTGTAGACCTAAGATGATGACAGCACGGGTGGGGCGGCGGAGGCGCCGCTGTCATTTTCCTGGCCTCAGGTCCTCTGTGTGTCCTCCCATCCTGTGGAGCATGTCTCCTGGGAATGGGAGGGGCCAGGATTTGAGCCAGTGCTTGTCTTGGCAGGGAGGCCTGTGCTCGGAACCATCTACCCCACTGCGCTGGGGTCTCCTGGGCCATGCTCTGGCCCTTTGTGTTCCCAGCTACCCTCATAGAGGCTGCAAATCTTTCCCCTGCTGAAATGAAACCAACTGAACTAACTACAGGATTCAGTTCTGTGATTGTCATTGGCTGAGTTGAGTTTGTTTTGGCTTTCTCTTTCTTGGTGAAGGTGGGAGTGTGGGGTTGGCTGGGCTCCCCCATCTGCGCAGGAGGACCCAGGGGTCTGCAGTTTTCATGAGGAATGTCAGCTGTTTCAAGCCAAGGCTTCAGATGTTTTTTGGGGGTGTTTGTGGCCAGCCCAGCCTAGCCCTGCTGACAGCAGACACGGACTGATGGAGCTCCCTGGAGGCCCTTAACCTCCTCCTGTCCACATCTTGTGTTCACTCCTCATGTGGCTTCTTAGTCCCTCTGAGTCTGTGTTGGGGGTTGCTGGACCCTCCTGGTCCGACGTCTGAGGTGTCTGGTGGGGTGATGGTCTGAAGGCCTCTCCTGATTTCTCATTGAGCCCGTTGTGGGAATGAGACCGTTGTCTGTGAGATGAGGCTTCTTGCACAGGCAGAAGGGGCTGAGGGCTGCGGTGCAGAGGGAGGTGAGGGAGCCAGCCTGGCCGCAGGCAGATCAGGAATGCTTGGGGTGGGGTGGTGGAGAGAAGTGTAGGTGAGGCCAGAGGCCAAGGCCTTGGAGGCCAGGCTAGGGGGTCTGACCTTGTTCTGCATGGCACTGGCACAGGGAGCTGTGGAAGGTGTCTGAGCCAAGGGGTGGCATTCCAGAGTGACCCTTTAAATGTAGGAATGTCCAGAAGCAGGGTGGGAGAAACATGGAATACAGGGGTGGATGGGAAGCTGATGCCACGGCCAAGGAAACGGGCCTGAGCTTGGACAGTGGTCAAAGACTTGTAAGGGAATCTTGAGGCTCTGTCTGGCCTGGGCTCTGAACCCCTCAAAAAATGTGGCCCTGTGGCTGGGTCTGTAGCGAGCAGCATGGCCAGTGCTGTGCCTGCATGTCCCCATCCCCTGTGTCAGGCCAACAAAGGGGATGTGGCTTCTCTGCAGAACAGGACAGGGCCCCTGTAGCCTCTGGAGGACGATGTGGGAGGTTTTGGGCATGGCAGGAAGGGTCACCCATATCTGGGGGAACAGACGTAACAGTTGGTAAACAAACAGGTGCTGTCACCGAATGTGGGAAGAAGGCTGTTTGCTGCGCTGCAGGAGCCTCTGAATGATGCGGGCCGGGGCTGCCCAGGCAACTTCCTGACAACGCCTTAGGGGTGGGAGGAAGGAACTGGAGGTCTTGGGCATGGGCAGGGCAGTACCAGGAGTGCTCTGGGCATAGTGCTCCATCCCAGGGCTGTGTATCTTGCTGGCTTAGCCAGTGGCCCTCACGGTTTGCTTCTGCCCCACAGCCTCGCCGCTCCTGCTATTTGCCAACCGCCGGGACGTACGGCTGGTGGACGCCGGCGGAGTCAAGCTGGAGTCCACCATCGTGGTCAGCGGCCTGGAGGATGCGGCCGCAGTGGACTTCCAGTTTTCCAAGGGAGCCGTGTACTGGACAGACGTGAGCGAGGAGGCCATCAAGCAGACCTACCTGAACCAGACGGGGGCCGCCGTGCAGAACGTGGTCATCTCCGGCCTGGTCTCTCCCGACGGCCTCGCCTGCGACTGGGTGGGCAAGAAGCTGTACTGGACGGACTCAGAGACCAACCGCATCGAGGTGGCCAACCTCAATGGCACATCCCGGAAGGTGCTCTTCTGGCAGGACCTTGACCAGCCGAGGGCCATCGCCTTGGACCCCGCTCACGGGTAAACCCTGCTGCGACTCCACCTGGGTCCAGGGGGCGGGGAGTGTCACCATCTCTCTCTCGAATTTGCATGAGCCCAAGTTGTTTTTCAGAAAAAGGGTGTGACTCTGAAAATGAACCCGTGGGGGGGTTGGCTCAGGCCTGTAACCCCAGCACTCGGTGTGACTCTGAAAATGAACCCGTGGGGGTGTTGGCTCAGGCCTGTAACCCCAGCACTCGGTGTCACTCTTAAAATGAACCCGTGGGGGGGTTGGCTCAGGCCTGTAACCCCAGCACTCGGTGCGACTCTGAAAATGAACTCGTGGGGGGGTTGGTTCAGGCCTGTAACCCCAGCACTCGGTGTCACTCTTAAAATGAACCCGTGGGGGGGTTGGCTCAGGCCTGTAACCCCAGCACTCGGTGCGACTCTGAAAATGAACCCGTGGGGGTGTTGGCTCAGGCCTGTAATCCCAGCACTCTGGGAGGCCAAGGCGGGCAGATCACCTGAGTCCAGGAATTCAAGACCACACTGGGCAACATGGTGAGACCCCATTTCTACAAAGTATACAAAAATGAATCGGGTGTGATGGTATGCACCTGTAATCCCAGCTTCTTGGGAGGCTGAGGTAGGAGGATCATTTGAGCCTGGGAGATCGAGGCTGCAGTGAGCTGTGATCCCACCACTGCACTCCAGCCTGGGCGACAAAGTGAGGAGATCCTGTCTCAAAAAAAAAAAAGAGCTCAGCTTTCAAGATTTGTTATTGTTGAAGGAATTACTTCCCCTTGAGATTCCATAGTTATGTTCCTTTTTTTTTTTTTTTTTTTTAATTGAGATGGAGTCTCCCTTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTTCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTACAGGCGCCCACCACCACGCCCAGCTAATTTTTGTAGTTTTGGTACAGATGGGGTTTCACCATGGTGTCTAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAACCACCGTGCCTGGCCCATAGTTATGTTCCTTTTTAAAACTTGCATGTCTGAGGCAACCGATGTGGTTGGCCATGGGTTTGAATGGTTAAACACATCTTTGCTGTGTGTATGGTGGGCGGCCTGGGAAGTGCGGACGCTCAGGCAGGTGGAATTTGCACCTTCTCCTGGCTTTCTAATTGCATTGGCTGAAAAAGTGCAGCTCCTTGTCTGGAAGCAGAACCTGCTGGGAGTGGTTCTCGGGTCCGTTCTGGAAGCTGCCCTGTGTCCTCCTCAGCTCCTAGTCTGGCTGAGTTCACCTGGGCCCTTGAAGGCTCAGGGCCTGGCCGTGATCCCAGGTGGGGAGAGCGTGGGTGGCAGGAAAGCTTTGGAGTCGAAGTCCGGGGTGGAGAGTTTAAGGGGAGGTGGCCCAGCTCCACTGGCCAGCTAGGCCAGGTCACCCCAGACTCCCGAGCAGAGGGAACAGTTTGCTTGGCCACCCCTTGTCCCTCCTTTGTCCCTTTTCTTGCAGCCTGGGAGTGACTCTGGGGGCCGTACACACACCCTTACCTGGGCTGTGCTAAGCCCTGGCCCTTGCTGACCTGTCAGGTTCTGTGCTGGGTCAGTGTCAGAACTGGTTGGCAGAGGTCTTGACTAGAACACAAGAGCCATTTCCCACCACCCCCAGGCTCAGTTGGAAGCCCTTTGCCTGTTAGTTCATTCAGTGTCACCACAGTCTCTCAGCACTCCCAGCCTGGACCTCACCGGTTGAGGGGCCGGCCTAGATCTTCTTTGCGCAATGGCACGATCTCAGCTCACTGCAACCTCCACCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGTGATTACAGGCGTGCACTACCACACCTGGCTAGGTTTTGTATTTTTAGTAGACACAGGGTTTCGC
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AGTGTCTTTTGATGCACAAAATCTTTAGCTTCCCATGAAGTCCCGTTTGTCTTTATTTGTGGCCTATGCCTTCCTGTTGTTTGACTTTCACAGTGTCCCTCGTTGCCACAAAGAACTGTAGACCTAAGATGATGACAGCACGGGTGGGGCGGCGGAGGCGCCGCTGTCATTTTCCTGGCCTCAGGTCCTCTGTGTGTCCTCCCATCCTGTGGAGCATGTCTCCTGGGAATGGGAGGGGCCAGGATTTGAGCCAGTGCTTGTCTTGGCAGGGAGGCCTGTGCTCGGAACCATCTACCCCACTGCGCTGGGGTCTCCTGGGCCATGCTCTGGCCCTTTGTGTTCCCAGCTACCCTCATAGAGGCTGCAAATCTTTCCCCTGCTGAAATGAAACCAACTGAACTAACTACAGGATTCAGTTCTGTGATTGTCATTGGCTGAGTTGAGTTTGTTTTGGCTTTCTCTTTCTTGGTGAAGGTGGGAGTGTGGGGTTGGCTGGGCTCCCCCATCTGCGCAGGAGGACCCAGGGGTCTGCAGTTTTCATGAGGAATGTCAGCTGTTTCAAGCCAAGGCTTCAGATGTTTTTTGGGGGTGTTTGTGGCCAGCCCAGCCTAGCCCTGCTGACAGCAGACACGGACTGATGGAGCTCCCTGGAGGCCCTTAACCTCCTCCTGTCCACATCTTGTGTTCACTCCTCATGTGGCTTCTTAGTCCCTCTGAGTCTGTGTTGGGGGTTGCTGGACCCTCCTGGTCCGACGTCTGAGGTGTCTGGTGGGGTGATGGTCTGAAGGCCTCTCCTGATTTCTCATTGAGCCCGTTGTGGGAATGAGACCGTTGTCTGTGAGATGAGGCTTCTTGCACAGGCAGAAGGGGCTGAGGGCTGCGGTGCAGAGGGAGGTGAGGGAGCCAGCCTGGCCGCAGGCAGATCAGGAATGCTTGGGGTGGGGTGGTGGAGAGAAGTGTAGGTGAGGCCAGAGGCCAAGGCCTTGGAGGCCAGGCTAGGGGGTCTGACCTTGTTCTGCATGGCACTGGCACAGGGAGCTGTGGAAGGTGTCTGAGCCAAGGGGTGGCATTCCAGAGTGACCCTTTAAATGTAGGAATGTCCAGAAGCAGGGTGGGAGAAACATGGAATACAGGGGTGGATGGGAAGCTGATGCCACGGCCAAGGAAACGGGCCTGAGCTTGGACAGTGGTCAAAGACTTGTAAGGGAATCTTGAGGCTCTGTCTGGCCTGGGCTCTGAACCCCTCAAAAAATGTGGCCCTGTGGCTGGGTCTGTAGCGAGCAGCATGGCCAGTGCTGTGCCTGCATGTCCCCATCCCCTGTGTCAGGCCAACAAAGGGGATGTGGCTTCTCTGCAGAACAGGACAGGGCCCCTGTAGCCTCTGGAGGACGATGTGGGAGGTTTTGGGCATGGCAGGAAGGGTCACCCATATCTGGGGGAACAGACGTAACAGTTGGTAAACAAACAGGTGCTGTCACCGAATGTGGGAAGAAGGCTGTTTGCTGCGCTGCAGGAGCCTCTGAATGATGCGGGCCGGGGCTGCCCAGGCAACTTCCTGACAACGCCTTAGGGGTGGGAGGAAGGAACTGGAGGTCTTGGGCATGGGCAGGGCAGTACCAGGAGTGCTCTGGGCATAGTGCTCCATCCCAGGGCTGTGTATCTTGCTGGCTTAGCCAGTGGCCCTCACGGTTTGCTTCTGCCCCACAGCCTCGCCGCTCCTGCTATTTGCCAACCGCCGGGACGTACGGCTGGTGGACGCCGGCGGAGTCAAGCTGGAGTCCACCATCGTGGTCAGCGGCCTGGAGGATGCGGCCGCAGTGGACTTCCAGTTTTCCAAGGGAGCCGTGTACTGGACAGACGTGAGCGAGGAGGCCATCAAGCAGACCTACCTGAACCAGACGGGGGCCGCCGTGCAGAACGTGGTCATCTCCGGCCTGGTCTCTCCCGACGGCCTCGCCTGCGACTGGGTGGGCAAGAAGCTGTACTGGACGGACTCAGAGACCAACCGCATCGAGGTGGCCAACCTCAATGGCACATCCCGGAAGGTGTTCTTCTGGCAGGACCTTGACCAGCCGAGGGCCATCGCCTTGGACCCCGCTCACGGGTAAACCCTGCTGCGACTCCACCTGGGTCCAGGGGGCGGGGAGTGTCACCATCTCTCTCTCGAATTTGCATGAGCCCAAGTTGTTTTTCAGAAAAAGGGTGTGACTCTGAAAATGAACCCGTGGGGGGGTTGGCTCAGGCCTGTAACCCCAGCACTCGGTGTGACTCTGAAAATGAACCCGTGGGGGTGTTGGCTCAGGCCTGTAACCCCAGCACTCGGTGTCACTCTTAAAATGAACCCGTGGGGGGGTTGGCTCAGGCCTGTAACCCCAGCACTCGGTGCGACTCTGAAAATGAACTCGTGGGGGGGTTGGTTCAGGCCTGTAACCCCAGCACTCGGTGTCACTCTTAAAATGAACCCGTGGGGGGGTTGGCTCAGGCCTGTAACCCCAGCACTCGGTGCGACTCTGAAAATGAACCCGTGGGGGTGTTGGCTCAGGCCTGTAATCCCAGCACTCTGGGAGGCCAAGGCGGGCAGATCACCTGAGTCCAGGAATTCAAGACCACACTGGGCAACATGGTGAGACCCCATTTCTACAAAGTATACAAAAATGAATCGGGTGTGATGGTATGCACCTGTAATCCCAGCTTCTTGGGAGGCTGAGGTAGGAGGATCATTTGAGCCTGGGAGATCGAGGCTGCAGTGAGCTGTGATCCCACCACTGCACTCCAGCCTGGGCGACAAAGTGAGGAGATCCTGTCTCAAAAAAAAAAAAGAGCTCAGCTTTCAAGATTTGTTATTGTTGAAGGAATTACTTCCCCTTGAGATTCCATAGTTATGTTCCTTTTTTTTTTTTTTTTTTTTAATTGAGATGGAGTCTCCCTTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTTCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTACAGGCGCCCACCACCACGCCCAGCTAATTTTTGTAGTTTTGGTACAGATGGGGTTTCACCATGGTGTCTAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAACCACCGTGCCTGGCCCATAGTTATGTTCCTTTTTAAAACTTGCATGTCTGAGGCAACCGATGTGGTTGGCCATGGGTTTGAATGGTTAAACACATCTTTGCTGTGTGTATGGTGGGCGGCCTGGGAAGTGCGGACGCTCAGGCAGGTGGAATTTGCACCTTCTCCTGGCTTTCTAATTGCATTGGCTGAAAAAGTGCAGCTCCTTGTCTGGAAGCAGAACCTGCTGGGAGTGGTTCTCGGGTCCGTTCTGGAAGCTGCCCTGTGTCCTCCTCAGCTCCTAGTCTGGCTGAGTTCACCTGGGCCCTTGAAGGCTCAGGGCCTGGCCGTGATCCCAGGTGGGGAGAGCGTGGGTGGCAGGAAAGCTTTGGAGTCGAAGTCCGGGGTGGAGAGTTTAAGGGGAGGTGGCCCAGCTCCACTGGCCAGCTAGGCCAGGTCACCCCAGACTCCCGAGCAGAGGGAACAGTTTGCTTGGCCACCCCTTGTCCCTCCTTTGTCCCTTTTCTTGCAGCCTGGGAGTGACTCTGGGGGCCGTACACACACCCTTACCTGGGCTGTGCTAAGCCCTGGCCCTTGCTGACCTGTCAGGTTCTGTGCTGGGTCAGTGTCAGAACTGGTTGGCAGAGGTCTTGACTAGAACACAAGAGCCATTTCCCACCACCCCCAGGCTCAGTTGGAAGCCCTTTGCCTGTTAGTTCATTCAGTGTCACCACAGTCTCTCAGCACTCCCAGCCTGGACCTCACCGGTTGAGGGGCCGGCCTAGATCTTCTTTGCGCAATGGCACGATCTCAGCTCACTGCAACCTCCACCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGTGATTACAGGCGTGCACTACCACACCTGGCTAGGTTTTGTATTTTTAGTAGACACAGGGTTTCGC
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Task1_train_16157
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This mutation occurs in LRP5 (LDL receptor related protein 5) on Chromosome 11. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Osteoporosis with pseudoglioma
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AGTGTCTTTTGATGCACAAAATCTTTAGCTTCCCATGAAGTCCCGTTTGTCTTTATTTGTGGCCTATGCCTTCCTGTTGTTTGACTTTCACAGTGTCCCTCGTTGCCACAAAGAACTGTAGACCTAAGATGATGACAGCACGGGTGGGGCGGCGGAGGCGCCGCTGTCATTTTCCTGGCCTCAGGTCCTCTGTGTGTCCTCCCATCCTGTGGAGCATGTCTCCTGGGAATGGGAGGGGCCAGGATTTGAGCCAGTGCTTGTCTTGGCAGGGAGGCCTGTGCTCGGAACCATCTACCCCACTGCGCTGGGGTCTCCTGGGCCATGCTCTGGCCCTTTGTGTTCCCAGCTACCCTCATAGAGGCTGCAAATCTTTCCCCTGCTGAAATGAAACCAACTGAACTAACTACAGGATTCAGTTCTGTGATTGTCATTGGCTGAGTTGAGTTTGTTTTGGCTTTCTCTTTCTTGGTGAAGGTGGGAGTGTGGGGTTGGCTGGGCTCCCCCATCTGCGCAGGAGGACCCAGGGGTCTGCAGTTTTCATGAGGAATGTCAGCTGTTTCAAGCCAAGGCTTCAGATGTTTTTTGGGGGTGTTTGTGGCCAGCCCAGCCTAGCCCTGCTGACAGCAGACACGGACTGATGGAGCTCCCTGGAGGCCCTTAACCTCCTCCTGTCCACATCTTGTGTTCACTCCTCATGTGGCTTCTTAGTCCCTCTGAGTCTGTGTTGGGGGTTGCTGGACCCTCCTGGTCCGACGTCTGAGGTGTCTGGTGGGGTGATGGTCTGAAGGCCTCTCCTGATTTCTCATTGAGCCCGTTGTGGGAATGAGACCGTTGTCTGTGAGATGAGGCTTCTTGCACAGGCAGAAGGGGCTGAGGGCTGCGGTGCAGAGGGAGGTGAGGGAGCCAGCCTGGCCGCAGGCAGATCAGGAATGCTTGGGGTGGGGTGGTGGAGAGAAGTGTAGGTGAGGCCAGAGGCCAAGGCCTTGGAGGCCAGGCTAGGGGGTCTGACCTTGTTCTGCATGGCACTGGCACAGGGAGCTGTGGAAGGTGTCTGAGCCAAGGGGTGGCATTCCAGAGTGACCCTTTAAATGTAGGAATGTCCAGAAGCAGGGTGGGAGAAACATGGAATACAGGGGTGGATGGGAAGCTGATGCCACGGCCAAGGAAACGGGCCTGAGCTTGGACAGTGGTCAAAGACTTGTAAGGGAATCTTGAGGCTCTGTCTGGCCTGGGCTCTGAACCCCTCAAAAAATGTGGCCCTGTGGCTGGGTCTGTAGCGAGCAGCATGGCCAGTGCTGTGCCTGCATGTCCCCATCCCCTGTGTCAGGCCAACAAAGGGGATGTGGCTTCTCTGCAGAACAGGACAGGGCCCCTGTAGCCTCTGGAGGACGATGTGGGAGGTTTTGGGCATGGCAGGAAGGGTCACCCATATCTGGGGGAACAGACGTAACAGTTGGTAAACAAACAGGTGCTGTCACCGAATGTGGGAAGAAGGCTGTTTGCTGCGCTGCAGGAGCCTCTGAATGATGCGGGCCGGGGCTGCCCAGGCAACTTCCTGACAACGCCTTAGGGGTGGGAGGAAGGAACTGGAGGTCTTGGGCATGGGCAGGGCAGTACCAGGAGTGCTCTGGGCATAGTGCTCCATCCCAGGGCTGTGTATCTTGCTGGCTTAGCCAGTGGCCCTCACGGTTTGCTTCTGCCCCACAGCCTCGCCGCTCCTGCTATTTGCCAACCGCCGGGACGTACGGCTGGTGGACGCCGGCGGAGTCAAGCTGGAGTCCACCATCGTGGTCAGCGGCCTGGAGGATGCGGCCGCAGTGGACTTCCAGTTTTCCAAGGGAGCCGTGTACTGGACAGACGTGAGCGAGGAGGCCATCAAGCAGACCTACCTGAACCAGACGGGGGCCGCCGTGCAGAACGTGGTCATCTCCGGCCTGGTCTCTCCCGACGGCCTCGCCTGCGACTGGGTGGGCAAGAAGCTGTACTGGACGGACTCAGAGACCAACCGCATCGAGGTGGCCAACCTCAATGGCACATCCCGGAAGGTGCTCTTCTGGCAGGACCTTGACCAGCCGAGGGCCATCGCCTTGGACCCCGCTCACGGGTAAACCCTGCTGCGACTCCACCTGGGTCCAGGGGGCGGGGAGTGTCACCATCTCTCTCTCGAATTTGCATGAGCCCAAGTTGTTTTTCAGAAAAAGGGTGTGACTCTGAAAATGAACCCGTGGGGGGGTTGGCTCAGGCCTGTAACCCCAGCACTCGGTGTGACTCTGAAAATGAACCCGTGGGGGTGTTGGCTCAGGCCTGTAACCCCAGCACTCGGTGTCACTCTTAAAATGAACCCGTGGGGGGGTTGGCTCAGGCCTGTAACCCCAGCACTCGGTGCGACTCTGAAAATGAACTCGTGGGGGGGTTGGTTCAGGCCTGTAACCCCAGCACTCGGTGTCACTCTTAAAATGAACCCGTGGGGGGGTTGGCTCAGGCCTGTAACCCCAGCACTCGGTGCGACTCTGAAAATGAACCCGTGGGGGTGTTGGCTCAGGCCTGTAATCCCAGCACTCTGGGAGGCCAAGGCGGGCAGATCACCTGAGTCCAGGAATTCAAGACCACACTGGGCAACATGGTGAGACCCCATTTCTACAAAGTATACAAAAATGAATCGGGTGTGATGGTATGCACCTGTAATCCCAGCTTCTTGGGAGGCTGAGGTAGGAGGATCATTTGAGCCTGGGAGATCGAGGCTGCAGTGAGCTGTGATCCCACCACTGCACTCCAGCCTGGGCGACAAAGTGAGGAGATCCTGTCTCAAAAAAAAAAAAGAGCTCAGCTTTCAAGATTTGTTATTGTTGAAGGAATTACTTCCCCTTGAGATTCCATAGTTATGTTCCTTTTTTTTTTTTTTTTTTTTAATTGAGATGGAGTCTCCCTTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTTCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTACAGGCGCCCACCACCACGCCCAGCTAATTTTTGTAGTTTTGGTACAGATGGGGTTTCACCATGGTGTCTAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAACCACCGTGCCTGGCCCATAGTTATGTTCCTTTTTAAAACTTGCATGTCTGAGGCAACCGATGTGGTTGGCCATGGGTTTGAATGGTTAAACACATCTTTGCTGTGTGTATGGTGGGCGGCCTGGGAAGTGCGGACGCTCAGGCAGGTGGAATTTGCACCTTCTCCTGGCTTTCTAATTGCATTGGCTGAAAAAGTGCAGCTCCTTGTCTGGAAGCAGAACCTGCTGGGAGTGGTTCTCGGGTCCGTTCTGGAAGCTGCCCTGTGTCCTCCTCAGCTCCTAGTCTGGCTGAGTTCACCTGGGCCCTTGAAGGCTCAGGGCCTGGCCGTGATCCCAGGTGGGGAGAGCGTGGGTGGCAGGAAAGCTTTGGAGTCGAAGTCCGGGGTGGAGAGTTTAAGGGGAGGTGGCCCAGCTCCACTGGCCAGCTAGGCCAGGTCACCCCAGACTCCCGAGCAGAGGGAACAGTTTGCTTGGCCACCCCTTGTCCCTCCTTTGTCCCTTTTCTTGCAGCCTGGGAGTGACTCTGGGGGCCGTACACACACCCTTACCTGGGCTGTGCTAAGCCCTGGCCCTTGCTGACCTGTCAGGTTCTGTGCTGGGTCAGTGTCAGAACTGGTTGGCAGAGGTCTTGACTAGAACACAAGAGCCATTTCCCACCACCCCCAGGCTCAGTTGGAAGCCCTTTGCCTGTTAGTTCATTCAGTGTCACCACAGTCTCTCAGCACTCCCAGCCTGGACCTCACCGGTTGAGGGGCCGGCCTAGATCTTCTTTGCGCAATGGCACGATCTCAGCTCACTGCAACCTCCACCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGTGATTACAGGCGTGCACTACCACACCTGGCTAGGTTTTGTATTTTTAGTAGACACAGGGTTTCGC
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AGTGTCTTTTGATGCACAAAATCTTTAGCTTCCCATGAAGTCCCGTTTGTCTTTATTTGTGGCCTATGCCTTCCTGTTGTTTGACTTTCACAGTGTCCCTCGTTGCCACAAAGAACTGTAGACCTAAGATGATGACAGCACGGGTGGGGCGGCGGAGGCGCCGCTGTCATTTTCCTGGCCTCAGGTCCTCTGTGTGTCCTCCCATCCTGTGGAGCATGTCTCCTGGGAATGGGAGGGGCCAGGATTTGAGCCAGTGCTTGTCTTGGCAGGGAGGCCTGTGCTCGGAACCATCTACCCCACTGCGCTGGGGTCTCCTGGGCCATGCTCTGGCCCTTTGTGTTCCCAGCTACCCTCATAGAGGCTGCAAATCTTTCCCCTGCTGAAATGAAACCAACTGAACTAACTACAGGATTCAGTTCTGTGATTGTCATTGGCTGAGTTGAGTTTGTTTTGGCTTTCTCTTTCTTGGTGAAGGTGGGAGTGTGGGGTTGGCTGGGCTCCCCCATCTGCGCAGGAGGACCCAGGGGTCTGCAGTTTTCATGAGGAATGTCAGCTGTTTCAAGCCAAGGCTTCAGATGTTTTTTGGGGGTGTTTGTGGCCAGCCCAGCCTAGCCCTGCTGACAGCAGACACGGACTGATGGAGCTCCCTGGAGGCCCTTAACCTCCTCCTGTCCACATCTTGTGTTCACTCCTCATGTGGCTTCTTAGTCCCTCTGAGTCTGTGTTGGGGGTTGCTGGACCCTCCTGGTCCGACGTCTGAGGTGTCTGGTGGGGTGATGGTCTGAAGGCCTCTCCTGATTTCTCATTGAGCCCGTTGTGGGAATGAGACCGTTGTCTGTGAGATGAGGCTTCTTGCACAGGCAGAAGGGGCTGAGGGCTGCGGTGCAGAGGGAGGTGAGGGAGCCAGCCTGGCCGCAGGCAGATCAGGAATGCTTGGGGTGGGGTGGTGGAGAGAAGTGTAGGTGAGGCCAGAGGCCAAGGCCTTGGAGGCCAGGCTAGGGGGTCTGACCTTGTTCTGCATGGCACTGGCACAGGGAGCTGTGGAAGGTGTCTGAGCCAAGGGGTGGCATTCCAGAGTGACCCTTTAAATGTAGGAATGTCCAGAAGCAGGGTGGGAGAAACATGGAATACAGGGGTGGATGGGAAGCTGATGCCACGGCCAAGGAAACGGGCCTGAGCTTGGACAGTGGTCAAAGACTTGTAAGGGAATCTTGAGGCTCTGTCTGGCCTGGGCTCTGAACCCCTCAAAAAATGTGGCCCTGTGGCTGGGTCTGTAGCGAGCAGCATGGCCAGTGCTGTGCCTGCATGTCCCCATCCCCTGTGTCAGGCCAACAAAGGGGATGTGGCTTCTCTGCAGAACAGGACAGGGCCCCTGTAGCCTCTGGAGGACGATGTGGGAGGTTTTGGGCATGGCAGGAAGGGTCACCCATATCTGGGGGAACAGACGTAACAGTTGGTAAACAAACAGGTGCTGTCACCGAATGTGGGAAGAAGGCTGTTTGCTGCGCTGCAGGAGCCTCTGAATGATGCGGGCCGGGGCTGCCCAGGCAACTTCCTGACAACGCCTTAGGGGTGGGAGGAAGGAACTGGAGGTCTTGGGCATGGGCAGGGCAGTACCAGGAGTGCTCTGGGCATAGTGCTCCATCCCAGGGCTGTGTATCTTGCTGGCTTAGCCAGTGGCCCTCACGGTTTGCTTCTGCCCCACAGCCTCGCCGCTCCTGCTATTTGCCAACCGCCGGGACGTACGGCTGGTGGACGCCGGCGGAGTCAAGCTGGAGTCCACCATCGTGGTCAGCGGCCTGGAGGATGCGGCCGCAGTGGACTTCCAGTTTTCCAAGGGAGCCGTGTACTGGACAGACGTGAGCGAGGAGGCCATCAAGCAGACCTACCTGAACCAGACGGGGGCCGCCGTGCAGAACGTGGTCATCTCCGGCCTGGTCTCTCCCGACGGCCTCGCCTGCGACTGGGTGGGCAAGAAGCTGTACTGGACGGACTCAGAGACCAACCGCATCGAGGTGGCCAACCTCAATGGCACATCCCGGAAGGTGTTCTTCTGGCAGGACCTTGACCAGCCGAGGGCCATCGCCTTGGACCCCGCTCACGGGTAAACCCTGCTGCGACTCCACCTGGGTCCAGGGGGCGGGGAGTGTCACCATCTCTCTCTCGAATTTGCATGAGCCCAAGTTGTTTTTCAGAAAAAGGGTGTGACTCTGAAAATGAACCCGTGGGGGGGTTGGCTCAGGCCTGTAACCCCAGCACTCGGTGTGACTCTGAAAATGAACCCGTGGGGGTGTTGGCTCAGGCCTGTAACCCCAGCACTCGGTGTCACTCTTAAAATGAACCCGTGGGGGGGTTGGCTCAGGCCTGTAACCCCAGCACTCGGTGCGACTCTGAAAATGAACTCGTGGGGGGGTTGGTTCAGGCCTGTAACCCCAGCACTCGGTGTCACTCTTAAAATGAACCCGTGGGGGGGTTGGCTCAGGCCTGTAACCCCAGCACTCGGTGCGACTCTGAAAATGAACCCGTGGGGGTGTTGGCTCAGGCCTGTAATCCCAGCACTCTGGGAGGCCAAGGCGGGCAGATCACCTGAGTCCAGGAATTCAAGACCACACTGGGCAACATGGTGAGACCCCATTTCTACAAAGTATACAAAAATGAATCGGGTGTGATGGTATGCACCTGTAATCCCAGCTTCTTGGGAGGCTGAGGTAGGAGGATCATTTGAGCCTGGGAGATCGAGGCTGCAGTGAGCTGTGATCCCACCACTGCACTCCAGCCTGGGCGACAAAGTGAGGAGATCCTGTCTCAAAAAAAAAAAAGAGCTCAGCTTTCAAGATTTGTTATTGTTGAAGGAATTACTTCCCCTTGAGATTCCATAGTTATGTTCCTTTTTTTTTTTTTTTTTTTTAATTGAGATGGAGTCTCCCTTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTTCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTACAGGCGCCCACCACCACGCCCAGCTAATTTTTGTAGTTTTGGTACAGATGGGGTTTCACCATGGTGTCTAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAACCACCGTGCCTGGCCCATAGTTATGTTCCTTTTTAAAACTTGCATGTCTGAGGCAACCGATGTGGTTGGCCATGGGTTTGAATGGTTAAACACATCTTTGCTGTGTGTATGGTGGGCGGCCTGGGAAGTGCGGACGCTCAGGCAGGTGGAATTTGCACCTTCTCCTGGCTTTCTAATTGCATTGGCTGAAAAAGTGCAGCTCCTTGTCTGGAAGCAGAACCTGCTGGGAGTGGTTCTCGGGTCCGTTCTGGAAGCTGCCCTGTGTCCTCCTCAGCTCCTAGTCTGGCTGAGTTCACCTGGGCCCTTGAAGGCTCAGGGCCTGGCCGTGATCCCAGGTGGGGAGAGCGTGGGTGGCAGGAAAGCTTTGGAGTCGAAGTCCGGGGTGGAGAGTTTAAGGGGAGGTGGCCCAGCTCCACTGGCCAGCTAGGCCAGGTCACCCCAGACTCCCGAGCAGAGGGAACAGTTTGCTTGGCCACCCCTTGTCCCTCCTTTGTCCCTTTTCTTGCAGCCTGGGAGTGACTCTGGGGGCCGTACACACACCCTTACCTGGGCTGTGCTAAGCCCTGGCCCTTGCTGACCTGTCAGGTTCTGTGCTGGGTCAGTGTCAGAACTGGTTGGCAGAGGTCTTGACTAGAACACAAGAGCCATTTCCCACCACCCCCAGGCTCAGTTGGAAGCCCTTTGCCTGTTAGTTCATTCAGTGTCACCACAGTCTCTCAGCACTCCCAGCCTGGACCTCACCGGTTGAGGGGCCGGCCTAGATCTTCTTTGCGCAATGGCACGATCTCAGCTCACTGCAACCTCCACCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGTGATTACAGGCGTGCACTACCACACCTGGCTAGGTTTTGTATTTTTAGTAGACACAGGGTTTCGC
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Task1_train_16158
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Here is a genetic alteration in LRP5 (LDL receptor related protein 5) on Chromosome 11. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Inborn genetic diseases
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ACACTGGGCACTGGTGGGGGTGGGACCTGCCATCCCAGACCTGGTGTCTGCTCACTTTGTCTTGGTTCATTGGCCAGAGATCACGTAAGGGCGCCCTGAGGATGTGCTTGTTTCTCATGGATGGGTGATGCTTGTCTCTTGGGAACATGGAGAAGCAAAGCCACGTCGCCCACAGACCTACCCAGGAACAGCTGCAGCTGCAGGTTCAGGGTCCATCCCAGCCATGGGTTTTATTCTTTTTTTTTTGAGACGGAGTGTTGCTGTCTCCCAGGCTGAGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGTGACTACAGGTGTCCGCCACCATGCCCGGCTAATTTTTTTTTTTGTACTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCATCTCGGCCTCCCAAAGCGCTGGAATTACAGGCATGAGCCACCGCACCCAGCCTTTTTTTTTTTTTTTTTAGGCAGGGTCTCACTCTGTCATCCAGGCTGGAGTGCAGTGGTACAGTCACAGCTCACTGCAGCCTCGACCTCCCAGGGCTGAAGGGATCCTCCCACGTCAGCCTCCCAAGTAGCTGGGACTACAAGAGTGTGCCACCATGCCCAGCTAACTTTTTTTTAATTTTTATTTTTTGTAGAGGTGGGATTTTGCCATGTTGCCCAGGGTGGCTCAAGTGACCCACCCACCTCAGCCTCCCGAAGTACTGGAATTACAGGTGCAAGCCATCGTGCCTGGCCATGTTTTGTTGTTTTTAAATAGACTTAATTTTTTCAAACAGTTGTAGGTTCACAGCAAAATTGATGAGCAGCAGGTACTGAGTTCCTATACATCCCTGTCCTCACACCCACACAGCCTTCCCAACTGTCAGCATCCTGTGCAGGGTGGTACATTTGTTACAACTGATGAAAGCTGGCTGACGCACCATCACCCAAAATCCACGTTTACACGAGGGTTCGCCCTTGATTTGTACATTCTTGGTTTAGACAGATGAGTAAGGACATGCACCCACCATTCCATGTCATACAGGATAGTTCCACTGCCCTGATTTTCTGTGCTCCACTCATTCATCCCTCTCCTCTCCAACTCCTGGCAACCACTGATGCTTTACTGTCTCTGTGTATTTGCTTTTTCCAGAGTGTTTAGAACTGGACTCATACAGATTGGCTCTTTCACCTACTAACATGCATTTAAGTTTCCTCCATGTCTTTTCATGGCTTGATAGATCATTTCTTTTCTTTTCTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGATGGAGTGCAATGGTGCGATTTCTGCTCACTGCAACCTCCCCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGACTACAGGTGCTCACTACCACGCCTGGCTAATGTTTTGTATTTTTAGTAGGGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCCGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTAGAGGTGTGAGCCACTGGGCCCAGCCGATAGCTCATTTCTTTATACCACTAAATAATATTCCATCCTGAGTGTTTTGAATTGCCTTTTAGAGGTTCATTTACAGCATTTTCATGGTAGCAAAAAAATCAGAAATAACCTGAAGTTCTTTAAAAAACTTACAGCAGAGTACACTAGGCAATCATCAAAAGAACAAGGAATCTTTCTATCCACAAGAAGGGAAGGTGCCCAGAATTTACTGTTAACTGAGAACAAGTTGGAAATAGTATATTTTGATTGCCCAGCTTAAGGCAGGAATACCTGAAACCATACCTGTTGGTTATTTCCGATGGGTGAGATTTTAGGGCAAGTTCACTGTCTGTTGTTTCATGTCTGCATCTATGCAGACAAAAACAAAAAACAGATCTGTGTTAGCTGCTTCTCTTGCCCTGCCCCCGTCACAGGTACATGTACTGGACAGACTGGGGTGAGACGCCCCGGATTGAGCGGGCAGGGATGGATGGCAGCACCCGGAAGATCATTGTGGACTCGGACATTTACTGGCCCAATGGACTGACCATCGACCTGGAGGAGCAGAAGCTCTACTGGGCTGACGCCAAGCTCAGCTTCATCCACCGTGCCAACCTGGACGGCTCGTTCCGGTAGGTACCCACGCAGTCCTGGGGCACCCCTTTCCCCTTTGTCCCCAGGGCTTTTGAAGGCGTTCCTTCTTAACTCAGGCCTACAGACTCTTCTCTGAAACTCTGGGGCCCTGAGGAATGCAGGACTTCTCAGAACTTGGAACAGCGTCAGGGTCTGTGTGGCATTTGCCACCAGCCCTTGAATATTTCTATAGCAAATGTGGCACGTTCATTCTAAGTAGGGCAGAAAAGACTATCTGTAGCCCACACCCATGCACAGTTTTTTTTTTTTTAACTTTGTTTTTTTGAGACAGAGTCTCACTCTTTCACCCAGGCTGGAGTGCAATGTCATAATCTCAGCTCACTGCAGCCCCCACCTCCCAGGCTCAAGCGATCCTCCCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTGCGCCACCACACCTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTCTCACATGTTGCTCAGGCTGGTCTCAAACTCCTAAGCTCAAGGGATCCTTCCCCTCGGCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCCATGCACCAAATGAGGTTTTGTCACCAGATGAGCAACAAAAGCTTTCCATCTTCAGAGCGTTTTGGATTTTGGAATTGTTGGGGAGGGCTTATGGCCCGGCAGGGTTGTGAACAGTAACCCTGTCACACGCACCACCCCCACCCTGGCCCTATCCCAGCTCAGGCATCCTGAGGGCAACAGCCGGAAGCTGTCTCAGTTATTGGTGCATTCCCCAGTCTCACCAGGGGGCCTTCCACATGGTCAGTGCTCAATAAAATGGGCCGAGAATGAGTAGGAAGGGTTTTCCCCTCGTTGGTTAATTGCTTTTAGAGCCTTCTGGTCAGCATAGCTTCCCAGCTCTGTACTTAATTACCCCTTATAGAAACATCCCTTCTGTGTACAGGTGAAGGGCAGTTTATTCACTAACCAAGTGCTGCCTGCTGCTAGCCCTGTGCTAGGTGTCAGGGATCCTCCTGGGACGGCAGACCCCATTCCTGCACTAGTGGAGCTCCTGGCCCAGGCAGGGATGTGGCAGGTGTCTGTGCAGAGGGCAGTAGTGACTGCATGGGAGGACTCAGTGGCTGGATTTCTGCAAACACAGGCCAACACCCACATGAACAGACTTGAGGGCTTGGGCAGCTTTGCTCCACACTTGCCAGGCCTCGTGTGTTAGTTATCCATTGCTGTGTAACAAAACAGCCCACAACTTAACAGCCTGAAACAGCAAACAGGTTTTTTATGGGGAGGGAGTCAGTGATGAGGAGTGGATTAGCTGGGTGCTTCTGGCTCAGGGTATGACCTGAGGGTACACTCAAGCTCCTGGCTGGGCCTCAGTCATCTGAAGGTTTGAGTGAGGCCGGGACATCCACTTCCAAGCTCATTCTCAGGGCAAGAGGCCTCAGTTTCTCCTGTTCCTCTTATGCTGAGCCACACATCTCTTTTGGGCTGGTTTGAAAATATCCTGTTGTCCCTGGAAGTGCAGACCAGCGGGTCTGGTTTGAGATTTGGAAATGTGGTTACCCTGTAGACTGTGGTTCTTGGGAGCTGAGTGATCTTACAGTTATGAAGGGTGGACAAGAGGATAGAAAGGCTGCAGCTGGGAGTGCCCTGGTCAAAGGATGGTGACAGGGGACAGTGAGGGTGATGGAGGTTGAAACATGCTAATGGTGGTGGCGGTGGCGGCAGCGAATCCTTCCATAGCACTTACTGTTTTCCAGGGACGTTTATCAGTTCATTTAATGCTCATACCACCTCTATGAAACGTTTGCTATTATGTTTTATTTTTATTTATATTTTTATTGTTTTGAGGCAGGGTC
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ACACTGGGCACTGGTGGGGGTGGGACCTGCCATCCCAGACCTGGTGTCTGCTCACTTTGTCTTGGTTCATTGGCCAGAGATCACGTAAGGGCGCCCTGAGGATGTGCTTGTTTCTCATGGATGGGTGATGCTTGTCTCTTGGGAACATGGAGAAGCAAAGCCACGTCGCCCACAGACCTACCCAGGAACAGCTGCAGCTGCAGGTTCAGGGTCCATCCCAGCCATGGGTTTTATTCTTTTTTTTTTGAGACGGAGTGTTGCTGTCTCCCAGGCTGAGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGTGACTACAGGTGTCCGCCACCATGCCCGGCTAATTTTTTTTTTTGTACTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCATCTCGGCCTCCCAAAGCGCTGGAATTACAGGCATGAGCCACCGCACCCAGCCTTTTTTTTTTTTTTTTTAGGCAGGGTCTCACTCTGTCATCCAGGCTGGAGTGCAGTGGTACAGTCACAGCTCACTGCAGCCTCGACCTCCCAGGGCTGAAGGGATCCTCCCACGTCAGCCTCCCAAGTAGCTGGGACTACAAGAGTGTGCCACCATGCCCAGCTAACTTTTTTTTAATTTTTATTTTTTGTAGAGGTGGGATTTTGCCATGTTGCCCAGGGTGGCTCAAGTGACCCACCCACCTCAGCCTCCCGAAGTACTGGAATTACAGGTGCAAGCCATCGTGCCTGGCCATGTTTTGTTGTTTTTAAATAGACTTAATTTTTTCAAACAGTTGTAGGTTCACAGCAAAATTGATGAGCAGCAGGTACTGAGTTCCTATACATCCCTGTCCTCACACCCACACAGCCTTCCCAACTGTCAGCATCCTGTGCAGGGTGGTACATTTGTTACAACTGATGAAAGCTGGCTGACGCACCATCACCCAAAATCCACGTTTACACGAGGGTTCGCCCTTGATTTGTACATTCTTGGTTTAGACAGATGAGTAAGGACATGCACCCACCATTCCATGTCATACAGGATAGTTCCACTGCCCTGATTTTCTGTGCTCCACTCATTCATCCCTCTCCTCTCCAACTCCTGGCAACCACTGATGCTTTACTGTCTCTGTGTATTTGCTTTTTCCAGAGTGTTTAGAACTGGACTCATACAGATTGGCTCTTTCACCTACTAACATGCATTTAAGTTTCCTCCATGTCTTTTCATGGCTTGATAGATCATTTCTTTTCTTTTCTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGATGGAGTGCAATGGTGCGATTTCTGCTCACTGCAACCTCCCCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGACTACAGGTGCTCACTACCACGCCTGGCTAATGTTTTGTATTTTTAGTAGGGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCCGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTAGAGGTGTGAGCCACTGGGCCCAGCCGATAGCTCATTTCTTTATACCACTAAATAATATTCCATCCTGAGTGTTTTGAATTGCCTTTTAGAGGTTCATTTACAGCATTTTCATGGTAGCAAAAAAATCAGAAATAACCTGAAGTTCTTTAAAAAACTTACAGCAGAGTACACTAGGCAATCATCAAAAGAACAAGGAATCTTTCTATCCACAAGAAGGGAAGGTGCCCAGAATTTACTGTTAACTGAGAACAAGTTGGAAATAGTATATTTTGATTGCCCAGCTTAAGGCAGGAATACCTGAAACCATACCTGTTGGTTATTTCCGATGGGTGAGATTTTAGGGCAAGTTCACTGTCTGTTGTTTCATGTCTGCATCTATGCAGACAAAAACAAAAAACAGATCTGTGTTAGCTGCTTCTCTTGCCCTGCCCCCGTCACAGGTACATGTACTCGACAGACTGGGGTGAGACGCCCCGGATTGAGCGGGCAGGGATGGATGGCAGCACCCGGAAGATCATTGTGGACTCGGACATTTACTGGCCCAATGGACTGACCATCGACCTGGAGGAGCAGAAGCTCTACTGGGCTGACGCCAAGCTCAGCTTCATCCACCGTGCCAACCTGGACGGCTCGTTCCGGTAGGTACCCACGCAGTCCTGGGGCACCCCTTTCCCCTTTGTCCCCAGGGCTTTTGAAGGCGTTCCTTCTTAACTCAGGCCTACAGACTCTTCTCTGAAACTCTGGGGCCCTGAGGAATGCAGGACTTCTCAGAACTTGGAACAGCGTCAGGGTCTGTGTGGCATTTGCCACCAGCCCTTGAATATTTCTATAGCAAATGTGGCACGTTCATTCTAAGTAGGGCAGAAAAGACTATCTGTAGCCCACACCCATGCACAGTTTTTTTTTTTTTAACTTTGTTTTTTTGAGACAGAGTCTCACTCTTTCACCCAGGCTGGAGTGCAATGTCATAATCTCAGCTCACTGCAGCCCCCACCTCCCAGGCTCAAGCGATCCTCCCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTGCGCCACCACACCTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTCTCACATGTTGCTCAGGCTGGTCTCAAACTCCTAAGCTCAAGGGATCCTTCCCCTCGGCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCCATGCACCAAATGAGGTTTTGTCACCAGATGAGCAACAAAAGCTTTCCATCTTCAGAGCGTTTTGGATTTTGGAATTGTTGGGGAGGGCTTATGGCCCGGCAGGGTTGTGAACAGTAACCCTGTCACACGCACCACCCCCACCCTGGCCCTATCCCAGCTCAGGCATCCTGAGGGCAACAGCCGGAAGCTGTCTCAGTTATTGGTGCATTCCCCAGTCTCACCAGGGGGCCTTCCACATGGTCAGTGCTCAATAAAATGGGCCGAGAATGAGTAGGAAGGGTTTTCCCCTCGTTGGTTAATTGCTTTTAGAGCCTTCTGGTCAGCATAGCTTCCCAGCTCTGTACTTAATTACCCCTTATAGAAACATCCCTTCTGTGTACAGGTGAAGGGCAGTTTATTCACTAACCAAGTGCTGCCTGCTGCTAGCCCTGTGCTAGGTGTCAGGGATCCTCCTGGGACGGCAGACCCCATTCCTGCACTAGTGGAGCTCCTGGCCCAGGCAGGGATGTGGCAGGTGTCTGTGCAGAGGGCAGTAGTGACTGCATGGGAGGACTCAGTGGCTGGATTTCTGCAAACACAGGCCAACACCCACATGAACAGACTTGAGGGCTTGGGCAGCTTTGCTCCACACTTGCCAGGCCTCGTGTGTTAGTTATCCATTGCTGTGTAACAAAACAGCCCACAACTTAACAGCCTGAAACAGCAAACAGGTTTTTTATGGGGAGGGAGTCAGTGATGAGGAGTGGATTAGCTGGGTGCTTCTGGCTCAGGGTATGACCTGAGGGTACACTCAAGCTCCTGGCTGGGCCTCAGTCATCTGAAGGTTTGAGTGAGGCCGGGACATCCACTTCCAAGCTCATTCTCAGGGCAAGAGGCCTCAGTTTCTCCTGTTCCTCTTATGCTGAGCCACACATCTCTTTTGGGCTGGTTTGAAAATATCCTGTTGTCCCTGGAAGTGCAGACCAGCGGGTCTGGTTTGAGATTTGGAAATGTGGTTACCCTGTAGACTGTGGTTCTTGGGAGCTGAGTGATCTTACAGTTATGAAGGGTGGACAAGAGGATAGAAAGGCTGCAGCTGGGAGTGCCCTGGTCAAAGGATGGTGACAGGGGACAGTGAGGGTGATGGAGGTTGAAACATGCTAATGGTGGTGGCGGTGGCGGCAGCGAATCCTTCCATAGCACTTACTGTTTTCCAGGGACGTTTATCAGTTCATTTAATGCTCATACCACCTCTATGAAACGTTTGCTATTATGTTTTATTTTTATTTATATTTTTATTGTTTTGAGGCAGGGTC
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Task1_train_16159
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Chromosome 11 houses a mutation in gene LRP5 (LDL receptor related protein 5). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Autosomal dominant osteopetrosis 1
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TGGTGGGGGTGGGACCTGCCATCCCAGACCTGGTGTCTGCTCACTTTGTCTTGGTTCATTGGCCAGAGATCACGTAAGGGCGCCCTGAGGATGTGCTTGTTTCTCATGGATGGGTGATGCTTGTCTCTTGGGAACATGGAGAAGCAAAGCCACGTCGCCCACAGACCTACCCAGGAACAGCTGCAGCTGCAGGTTCAGGGTCCATCCCAGCCATGGGTTTTATTCTTTTTTTTTTGAGACGGAGTGTTGCTGTCTCCCAGGCTGAGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGTGACTACAGGTGTCCGCCACCATGCCCGGCTAATTTTTTTTTTTGTACTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCATCTCGGCCTCCCAAAGCGCTGGAATTACAGGCATGAGCCACCGCACCCAGCCTTTTTTTTTTTTTTTTTAGGCAGGGTCTCACTCTGTCATCCAGGCTGGAGTGCAGTGGTACAGTCACAGCTCACTGCAGCCTCGACCTCCCAGGGCTGAAGGGATCCTCCCACGTCAGCCTCCCAAGTAGCTGGGACTACAAGAGTGTGCCACCATGCCCAGCTAACTTTTTTTTAATTTTTATTTTTTGTAGAGGTGGGATTTTGCCATGTTGCCCAGGGTGGCTCAAGTGACCCACCCACCTCAGCCTCCCGAAGTACTGGAATTACAGGTGCAAGCCATCGTGCCTGGCCATGTTTTGTTGTTTTTAAATAGACTTAATTTTTTCAAACAGTTGTAGGTTCACAGCAAAATTGATGAGCAGCAGGTACTGAGTTCCTATACATCCCTGTCCTCACACCCACACAGCCTTCCCAACTGTCAGCATCCTGTGCAGGGTGGTACATTTGTTACAACTGATGAAAGCTGGCTGACGCACCATCACCCAAAATCCACGTTTACACGAGGGTTCGCCCTTGATTTGTACATTCTTGGTTTAGACAGATGAGTAAGGACATGCACCCACCATTCCATGTCATACAGGATAGTTCCACTGCCCTGATTTTCTGTGCTCCACTCATTCATCCCTCTCCTCTCCAACTCCTGGCAACCACTGATGCTTTACTGTCTCTGTGTATTTGCTTTTTCCAGAGTGTTTAGAACTGGACTCATACAGATTGGCTCTTTCACCTACTAACATGCATTTAAGTTTCCTCCATGTCTTTTCATGGCTTGATAGATCATTTCTTTTCTTTTCTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGATGGAGTGCAATGGTGCGATTTCTGCTCACTGCAACCTCCCCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGACTACAGGTGCTCACTACCACGCCTGGCTAATGTTTTGTATTTTTAGTAGGGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCCGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTAGAGGTGTGAGCCACTGGGCCCAGCCGATAGCTCATTTCTTTATACCACTAAATAATATTCCATCCTGAGTGTTTTGAATTGCCTTTTAGAGGTTCATTTACAGCATTTTCATGGTAGCAAAAAAATCAGAAATAACCTGAAGTTCTTTAAAAAACTTACAGCAGAGTACACTAGGCAATCATCAAAAGAACAAGGAATCTTTCTATCCACAAGAAGGGAAGGTGCCCAGAATTTACTGTTAACTGAGAACAAGTTGGAAATAGTATATTTTGATTGCCCAGCTTAAGGCAGGAATACCTGAAACCATACCTGTTGGTTATTTCCGATGGGTGAGATTTTAGGGCAAGTTCACTGTCTGTTGTTTCATGTCTGCATCTATGCAGACAAAAACAAAAAACAGATCTGTGTTAGCTGCTTCTCTTGCCCTGCCCCCGTCACAGGTACATGTACTGGACAGACTGGGGTGAGACGCCCCGGATTGAGCGGGCAGGGATGGATGGCAGCACCCGGAAGATCATTGTGGACTCGGACATTTACTGGCCCAATGGACTGACCATCGACCTGGAGGAGCAGAAGCTCTACTGGGCTGACGCCAAGCTCAGCTTCATCCACCGTGCCAACCTGGACGGCTCGTTCCGGTAGGTACCCACGCAGTCCTGGGGCACCCCTTTCCCCTTTGTCCCCAGGGCTTTTGAAGGCGTTCCTTCTTAACTCAGGCCTACAGACTCTTCTCTGAAACTCTGGGGCCCTGAGGAATGCAGGACTTCTCAGAACTTGGAACAGCGTCAGGGTCTGTGTGGCATTTGCCACCAGCCCTTGAATATTTCTATAGCAAATGTGGCACGTTCATTCTAAGTAGGGCAGAAAAGACTATCTGTAGCCCACACCCATGCACAGTTTTTTTTTTTTTAACTTTGTTTTTTTGAGACAGAGTCTCACTCTTTCACCCAGGCTGGAGTGCAATGTCATAATCTCAGCTCACTGCAGCCCCCACCTCCCAGGCTCAAGCGATCCTCCCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTGCGCCACCACACCTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTCTCACATGTTGCTCAGGCTGGTCTCAAACTCCTAAGCTCAAGGGATCCTTCCCCTCGGCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCCATGCACCAAATGAGGTTTTGTCACCAGATGAGCAACAAAAGCTTTCCATCTTCAGAGCGTTTTGGATTTTGGAATTGTTGGGGAGGGCTTATGGCCCGGCAGGGTTGTGAACAGTAACCCTGTCACACGCACCACCCCCACCCTGGCCCTATCCCAGCTCAGGCATCCTGAGGGCAACAGCCGGAAGCTGTCTCAGTTATTGGTGCATTCCCCAGTCTCACCAGGGGGCCTTCCACATGGTCAGTGCTCAATAAAATGGGCCGAGAATGAGTAGGAAGGGTTTTCCCCTCGTTGGTTAATTGCTTTTAGAGCCTTCTGGTCAGCATAGCTTCCCAGCTCTGTACTTAATTACCCCTTATAGAAACATCCCTTCTGTGTACAGGTGAAGGGCAGTTTATTCACTAACCAAGTGCTGCCTGCTGCTAGCCCTGTGCTAGGTGTCAGGGATCCTCCTGGGACGGCAGACCCCATTCCTGCACTAGTGGAGCTCCTGGCCCAGGCAGGGATGTGGCAGGTGTCTGTGCAGAGGGCAGTAGTGACTGCATGGGAGGACTCAGTGGCTGGATTTCTGCAAACACAGGCCAACACCCACATGAACAGACTTGAGGGCTTGGGCAGCTTTGCTCCACACTTGCCAGGCCTCGTGTGTTAGTTATCCATTGCTGTGTAACAAAACAGCCCACAACTTAACAGCCTGAAACAGCAAACAGGTTTTTTATGGGGAGGGAGTCAGTGATGAGGAGTGGATTAGCTGGGTGCTTCTGGCTCAGGGTATGACCTGAGGGTACACTCAAGCTCCTGGCTGGGCCTCAGTCATCTGAAGGTTTGAGTGAGGCCGGGACATCCACTTCCAAGCTCATTCTCAGGGCAAGAGGCCTCAGTTTCTCCTGTTCCTCTTATGCTGAGCCACACATCTCTTTTGGGCTGGTTTGAAAATATCCTGTTGTCCCTGGAAGTGCAGACCAGCGGGTCTGGTTTGAGATTTGGAAATGTGGTTACCCTGTAGACTGTGGTTCTTGGGAGCTGAGTGATCTTACAGTTATGAAGGGTGGACAAGAGGATAGAAAGGCTGCAGCTGGGAGTGCCCTGGTCAAAGGATGGTGACAGGGGACAGTGAGGGTGATGGAGGTTGAAACATGCTAATGGTGGTGGCGGTGGCGGCAGCGAATCCTTCCATAGCACTTACTGTTTTCCAGGGACGTTTATCAGTTCATTTAATGCTCATACCACCTCTATGAAACGTTTGCTATTATGTTTTATTTTTATTTATATTTTTATTGTTTTGAGGCAGGGTCTCACTTTGTCA
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TGGTGGGGGTGGGACCTGCCATCCCAGACCTGGTGTCTGCTCACTTTGTCTTGGTTCATTGGCCAGAGATCACGTAAGGGCGCCCTGAGGATGTGCTTGTTTCTCATGGATGGGTGATGCTTGTCTCTTGGGAACATGGAGAAGCAAAGCCACGTCGCCCACAGACCTACCCAGGAACAGCTGCAGCTGCAGGTTCAGGGTCCATCCCAGCCATGGGTTTTATTCTTTTTTTTTTGAGACGGAGTGTTGCTGTCTCCCAGGCTGAGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGTGACTACAGGTGTCCGCCACCATGCCCGGCTAATTTTTTTTTTTGTACTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCATCTCGGCCTCCCAAAGCGCTGGAATTACAGGCATGAGCCACCGCACCCAGCCTTTTTTTTTTTTTTTTTAGGCAGGGTCTCACTCTGTCATCCAGGCTGGAGTGCAGTGGTACAGTCACAGCTCACTGCAGCCTCGACCTCCCAGGGCTGAAGGGATCCTCCCACGTCAGCCTCCCAAGTAGCTGGGACTACAAGAGTGTGCCACCATGCCCAGCTAACTTTTTTTTAATTTTTATTTTTTGTAGAGGTGGGATTTTGCCATGTTGCCCAGGGTGGCTCAAGTGACCCACCCACCTCAGCCTCCCGAAGTACTGGAATTACAGGTGCAAGCCATCGTGCCTGGCCATGTTTTGTTGTTTTTAAATAGACTTAATTTTTTCAAACAGTTGTAGGTTCACAGCAAAATTGATGAGCAGCAGGTACTGAGTTCCTATACATCCCTGTCCTCACACCCACACAGCCTTCCCAACTGTCAGCATCCTGTGCAGGGTGGTACATTTGTTACAACTGATGAAAGCTGGCTGACGCACCATCACCCAAAATCCACGTTTACACGAGGGTTCGCCCTTGATTTGTACATTCTTGGTTTAGACAGATGAGTAAGGACATGCACCCACCATTCCATGTCATACAGGATAGTTCCACTGCCCTGATTTTCTGTGCTCCACTCATTCATCCCTCTCCTCTCCAACTCCTGGCAACCACTGATGCTTTACTGTCTCTGTGTATTTGCTTTTTCCAGAGTGTTTAGAACTGGACTCATACAGATTGGCTCTTTCACCTACTAACATGCATTTAAGTTTCCTCCATGTCTTTTCATGGCTTGATAGATCATTTCTTTTCTTTTCTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGATGGAGTGCAATGGTGCGATTTCTGCTCACTGCAACCTCCCCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGACTACAGGTGCTCACTACCACGCCTGGCTAATGTTTTGTATTTTTAGTAGGGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCCGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTAGAGGTGTGAGCCACTGGGCCCAGCCGATAGCTCATTTCTTTATACCACTAAATAATATTCCATCCTGAGTGTTTTGAATTGCCTTTTAGAGGTTCATTTACAGCATTTTCATGGTAGCAAAAAAATCAGAAATAACCTGAAGTTCTTTAAAAAACTTACAGCAGAGTACACTAGGCAATCATCAAAAGAACAAGGAATCTTTCTATCCACAAGAAGGGAAGGTGCCCAGAATTTACTGTTAACTGAGAACAAGTTGGAAATAGTATATTTTGATTGCCCAGCTTAAGGCAGGAATACCTGAAACCATACCTGTTGGTTATTTCCGATGGGTGAGATTTTAGGGCAAGTTCACTGTCTGTTGTTTCATGTCTGCATCTATGCAGACAAAAACAAAAAACAGATCTGTGTTAGCTGCTTCTCTTGCCCTGCCCCCGTCACAGGTACATGTACTGGACAGACTGGCGTGAGACGCCCCGGATTGAGCGGGCAGGGATGGATGGCAGCACCCGGAAGATCATTGTGGACTCGGACATTTACTGGCCCAATGGACTGACCATCGACCTGGAGGAGCAGAAGCTCTACTGGGCTGACGCCAAGCTCAGCTTCATCCACCGTGCCAACCTGGACGGCTCGTTCCGGTAGGTACCCACGCAGTCCTGGGGCACCCCTTTCCCCTTTGTCCCCAGGGCTTTTGAAGGCGTTCCTTCTTAACTCAGGCCTACAGACTCTTCTCTGAAACTCTGGGGCCCTGAGGAATGCAGGACTTCTCAGAACTTGGAACAGCGTCAGGGTCTGTGTGGCATTTGCCACCAGCCCTTGAATATTTCTATAGCAAATGTGGCACGTTCATTCTAAGTAGGGCAGAAAAGACTATCTGTAGCCCACACCCATGCACAGTTTTTTTTTTTTTAACTTTGTTTTTTTGAGACAGAGTCTCACTCTTTCACCCAGGCTGGAGTGCAATGTCATAATCTCAGCTCACTGCAGCCCCCACCTCCCAGGCTCAAGCGATCCTCCCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTGCGCCACCACACCTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTCTCACATGTTGCTCAGGCTGGTCTCAAACTCCTAAGCTCAAGGGATCCTTCCCCTCGGCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCCATGCACCAAATGAGGTTTTGTCACCAGATGAGCAACAAAAGCTTTCCATCTTCAGAGCGTTTTGGATTTTGGAATTGTTGGGGAGGGCTTATGGCCCGGCAGGGTTGTGAACAGTAACCCTGTCACACGCACCACCCCCACCCTGGCCCTATCCCAGCTCAGGCATCCTGAGGGCAACAGCCGGAAGCTGTCTCAGTTATTGGTGCATTCCCCAGTCTCACCAGGGGGCCTTCCACATGGTCAGTGCTCAATAAAATGGGCCGAGAATGAGTAGGAAGGGTTTTCCCCTCGTTGGTTAATTGCTTTTAGAGCCTTCTGGTCAGCATAGCTTCCCAGCTCTGTACTTAATTACCCCTTATAGAAACATCCCTTCTGTGTACAGGTGAAGGGCAGTTTATTCACTAACCAAGTGCTGCCTGCTGCTAGCCCTGTGCTAGGTGTCAGGGATCCTCCTGGGACGGCAGACCCCATTCCTGCACTAGTGGAGCTCCTGGCCCAGGCAGGGATGTGGCAGGTGTCTGTGCAGAGGGCAGTAGTGACTGCATGGGAGGACTCAGTGGCTGGATTTCTGCAAACACAGGCCAACACCCACATGAACAGACTTGAGGGCTTGGGCAGCTTTGCTCCACACTTGCCAGGCCTCGTGTGTTAGTTATCCATTGCTGTGTAACAAAACAGCCCACAACTTAACAGCCTGAAACAGCAAACAGGTTTTTTATGGGGAGGGAGTCAGTGATGAGGAGTGGATTAGCTGGGTGCTTCTGGCTCAGGGTATGACCTGAGGGTACACTCAAGCTCCTGGCTGGGCCTCAGTCATCTGAAGGTTTGAGTGAGGCCGGGACATCCACTTCCAAGCTCATTCTCAGGGCAAGAGGCCTCAGTTTCTCCTGTTCCTCTTATGCTGAGCCACACATCTCTTTTGGGCTGGTTTGAAAATATCCTGTTGTCCCTGGAAGTGCAGACCAGCGGGTCTGGTTTGAGATTTGGAAATGTGGTTACCCTGTAGACTGTGGTTCTTGGGAGCTGAGTGATCTTACAGTTATGAAGGGTGGACAAGAGGATAGAAAGGCTGCAGCTGGGAGTGCCCTGGTCAAAGGATGGTGACAGGGGACAGTGAGGGTGATGGAGGTTGAAACATGCTAATGGTGGTGGCGGTGGCGGCAGCGAATCCTTCCATAGCACTTACTGTTTTCCAGGGACGTTTATCAGTTCATTTAATGCTCATACCACCTCTATGAAACGTTTGCTATTATGTTTTATTTTTATTTATATTTTTATTGTTTTGAGGCAGGGTCTCACTTTGTCA
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Task1_train_16160
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Consider a variant on Chromosome 11 in gene LRP5 (LDL receptor related protein 5). Determine its clinical classification and disease relevance.
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Pathogenic; not provided
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GGGAACATGGAGAAGCAAAGCCACGTCGCCCACAGACCTACCCAGGAACAGCTGCAGCTGCAGGTTCAGGGTCCATCCCAGCCATGGGTTTTATTCTTTTTTTTTTGAGACGGAGTGTTGCTGTCTCCCAGGCTGAGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGTGACTACAGGTGTCCGCCACCATGCCCGGCTAATTTTTTTTTTTGTACTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCATCTCGGCCTCCCAAAGCGCTGGAATTACAGGCATGAGCCACCGCACCCAGCCTTTTTTTTTTTTTTTTTAGGCAGGGTCTCACTCTGTCATCCAGGCTGGAGTGCAGTGGTACAGTCACAGCTCACTGCAGCCTCGACCTCCCAGGGCTGAAGGGATCCTCCCACGTCAGCCTCCCAAGTAGCTGGGACTACAAGAGTGTGCCACCATGCCCAGCTAACTTTTTTTTAATTTTTATTTTTTGTAGAGGTGGGATTTTGCCATGTTGCCCAGGGTGGCTCAAGTGACCCACCCACCTCAGCCTCCCGAAGTACTGGAATTACAGGTGCAAGCCATCGTGCCTGGCCATGTTTTGTTGTTTTTAAATAGACTTAATTTTTTCAAACAGTTGTAGGTTCACAGCAAAATTGATGAGCAGCAGGTACTGAGTTCCTATACATCCCTGTCCTCACACCCACACAGCCTTCCCAACTGTCAGCATCCTGTGCAGGGTGGTACATTTGTTACAACTGATGAAAGCTGGCTGACGCACCATCACCCAAAATCCACGTTTACACGAGGGTTCGCCCTTGATTTGTACATTCTTGGTTTAGACAGATGAGTAAGGACATGCACCCACCATTCCATGTCATACAGGATAGTTCCACTGCCCTGATTTTCTGTGCTCCACTCATTCATCCCTCTCCTCTCCAACTCCTGGCAACCACTGATGCTTTACTGTCTCTGTGTATTTGCTTTTTCCAGAGTGTTTAGAACTGGACTCATACAGATTGGCTCTTTCACCTACTAACATGCATTTAAGTTTCCTCCATGTCTTTTCATGGCTTGATAGATCATTTCTTTTCTTTTCTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGATGGAGTGCAATGGTGCGATTTCTGCTCACTGCAACCTCCCCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGACTACAGGTGCTCACTACCACGCCTGGCTAATGTTTTGTATTTTTAGTAGGGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCCGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTAGAGGTGTGAGCCACTGGGCCCAGCCGATAGCTCATTTCTTTATACCACTAAATAATATTCCATCCTGAGTGTTTTGAATTGCCTTTTAGAGGTTCATTTACAGCATTTTCATGGTAGCAAAAAAATCAGAAATAACCTGAAGTTCTTTAAAAAACTTACAGCAGAGTACACTAGGCAATCATCAAAAGAACAAGGAATCTTTCTATCCACAAGAAGGGAAGGTGCCCAGAATTTACTGTTAACTGAGAACAAGTTGGAAATAGTATATTTTGATTGCCCAGCTTAAGGCAGGAATACCTGAAACCATACCTGTTGGTTATTTCCGATGGGTGAGATTTTAGGGCAAGTTCACTGTCTGTTGTTTCATGTCTGCATCTATGCAGACAAAAACAAAAAACAGATCTGTGTTAGCTGCTTCTCTTGCCCTGCCCCCGTCACAGGTACATGTACTGGACAGACTGGGGTGAGACGCCCCGGATTGAGCGGGCAGGGATGGATGGCAGCACCCGGAAGATCATTGTGGACTCGGACATTTACTGGCCCAATGGACTGACCATCGACCTGGAGGAGCAGAAGCTCTACTGGGCTGACGCCAAGCTCAGCTTCATCCACCGTGCCAACCTGGACGGCTCGTTCCGGTAGGTACCCACGCAGTCCTGGGGCACCCCTTTCCCCTTTGTCCCCAGGGCTTTTGAAGGCGTTCCTTCTTAACTCAGGCCTACAGACTCTTCTCTGAAACTCTGGGGCCCTGAGGAATGCAGGACTTCTCAGAACTTGGAACAGCGTCAGGGTCTGTGTGGCATTTGCCACCAGCCCTTGAATATTTCTATAGCAAATGTGGCACGTTCATTCTAAGTAGGGCAGAAAAGACTATCTGTAGCCCACACCCATGCACAGTTTTTTTTTTTTTAACTTTGTTTTTTTGAGACAGAGTCTCACTCTTTCACCCAGGCTGGAGTGCAATGTCATAATCTCAGCTCACTGCAGCCCCCACCTCCCAGGCTCAAGCGATCCTCCCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTGCGCCACCACACCTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTCTCACATGTTGCTCAGGCTGGTCTCAAACTCCTAAGCTCAAGGGATCCTTCCCCTCGGCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCCATGCACCAAATGAGGTTTTGTCACCAGATGAGCAACAAAAGCTTTCCATCTTCAGAGCGTTTTGGATTTTGGAATTGTTGGGGAGGGCTTATGGCCCGGCAGGGTTGTGAACAGTAACCCTGTCACACGCACCACCCCCACCCTGGCCCTATCCCAGCTCAGGCATCCTGAGGGCAACAGCCGGAAGCTGTCTCAGTTATTGGTGCATTCCCCAGTCTCACCAGGGGGCCTTCCACATGGTCAGTGCTCAATAAAATGGGCCGAGAATGAGTAGGAAGGGTTTTCCCCTCGTTGGTTAATTGCTTTTAGAGCCTTCTGGTCAGCATAGCTTCCCAGCTCTGTACTTAATTACCCCTTATAGAAACATCCCTTCTGTGTACAGGTGAAGGGCAGTTTATTCACTAACCAAGTGCTGCCTGCTGCTAGCCCTGTGCTAGGTGTCAGGGATCCTCCTGGGACGGCAGACCCCATTCCTGCACTAGTGGAGCTCCTGGCCCAGGCAGGGATGTGGCAGGTGTCTGTGCAGAGGGCAGTAGTGACTGCATGGGAGGACTCAGTGGCTGGATTTCTGCAAACACAGGCCAACACCCACATGAACAGACTTGAGGGCTTGGGCAGCTTTGCTCCACACTTGCCAGGCCTCGTGTGTTAGTTATCCATTGCTGTGTAACAAAACAGCCCACAACTTAACAGCCTGAAACAGCAAACAGGTTTTTTATGGGGAGGGAGTCAGTGATGAGGAGTGGATTAGCTGGGTGCTTCTGGCTCAGGGTATGACCTGAGGGTACACTCAAGCTCCTGGCTGGGCCTCAGTCATCTGAAGGTTTGAGTGAGGCCGGGACATCCACTTCCAAGCTCATTCTCAGGGCAAGAGGCCTCAGTTTCTCCTGTTCCTCTTATGCTGAGCCACACATCTCTTTTGGGCTGGTTTGAAAATATCCTGTTGTCCCTGGAAGTGCAGACCAGCGGGTCTGGTTTGAGATTTGGAAATGTGGTTACCCTGTAGACTGTGGTTCTTGGGAGCTGAGTGATCTTACAGTTATGAAGGGTGGACAAGAGGATAGAAAGGCTGCAGCTGGGAGTGCCCTGGTCAAAGGATGGTGACAGGGGACAGTGAGGGTGATGGAGGTTGAAACATGCTAATGGTGGTGGCGGTGGCGGCAGCGAATCCTTCCATAGCACTTACTGTTTTCCAGGGACGTTTATCAGTTCATTTAATGCTCATACCACCTCTATGAAACGTTTGCTATTATGTTTTATTTTTATTTATATTTTTATTGTTTTGAGGCAGGGTCTCACTTTGTCACCCAGGCTGGAGTGCATTGGCACAATCATGGTTCACTGCAGCCTTGACCTCTTTTTTTGTTTGTTTGTTTGTTTTTTTTTTTTTTGGGATGGAGTCTTGCTCTGTCCCCCTGGCTGGAGTGCAGCGGCA
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GGGAACATGGAGAAGCAAAGCCACGTCGCCCACAGACCTACCCAGGAACAGCTGCAGCTGCAGGTTCAGGGTCCATCCCAGCCATGGGTTTTATTCTTTTTTTTTTGAGACGGAGTGTTGCTGTCTCCCAGGCTGAGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGTGACTACAGGTGTCCGCCACCATGCCCGGCTAATTTTTTTTTTTGTACTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCATCTCGGCCTCCCAAAGCGCTGGAATTACAGGCATGAGCCACCGCACCCAGCCTTTTTTTTTTTTTTTTTAGGCAGGGTCTCACTCTGTCATCCAGGCTGGAGTGCAGTGGTACAGTCACAGCTCACTGCAGCCTCGACCTCCCAGGGCTGAAGGGATCCTCCCACGTCAGCCTCCCAAGTAGCTGGGACTACAAGAGTGTGCCACCATGCCCAGCTAACTTTTTTTTAATTTTTATTTTTTGTAGAGGTGGGATTTTGCCATGTTGCCCAGGGTGGCTCAAGTGACCCACCCACCTCAGCCTCCCGAAGTACTGGAATTACAGGTGCAAGCCATCGTGCCTGGCCATGTTTTGTTGTTTTTAAATAGACTTAATTTTTTCAAACAGTTGTAGGTTCACAGCAAAATTGATGAGCAGCAGGTACTGAGTTCCTATACATCCCTGTCCTCACACCCACACAGCCTTCCCAACTGTCAGCATCCTGTGCAGGGTGGTACATTTGTTACAACTGATGAAAGCTGGCTGACGCACCATCACCCAAAATCCACGTTTACACGAGGGTTCGCCCTTGATTTGTACATTCTTGGTTTAGACAGATGAGTAAGGACATGCACCCACCATTCCATGTCATACAGGATAGTTCCACTGCCCTGATTTTCTGTGCTCCACTCATTCATCCCTCTCCTCTCCAACTCCTGGCAACCACTGATGCTTTACTGTCTCTGTGTATTTGCTTTTTCCAGAGTGTTTAGAACTGGACTCATACAGATTGGCTCTTTCACCTACTAACATGCATTTAAGTTTCCTCCATGTCTTTTCATGGCTTGATAGATCATTTCTTTTCTTTTCTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGATGGAGTGCAATGGTGCGATTTCTGCTCACTGCAACCTCCCCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGACTACAGGTGCTCACTACCACGCCTGGCTAATGTTTTGTATTTTTAGTAGGGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCCGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTAGAGGTGTGAGCCACTGGGCCCAGCCGATAGCTCATTTCTTTATACCACTAAATAATATTCCATCCTGAGTGTTTTGAATTGCCTTTTAGAGGTTCATTTACAGCATTTTCATGGTAGCAAAAAAATCAGAAATAACCTGAAGTTCTTTAAAAAACTTACAGCAGAGTACACTAGGCAATCATCAAAAGAACAAGGAATCTTTCTATCCACAAGAAGGGAAGGTGCCCAGAATTTACTGTTAACTGAGAACAAGTTGGAAATAGTATATTTTGATTGCCCAGCTTAAGGCAGGAATACCTGAAACCATACCTGTTGGTTATTTCCGATGGGTGAGATTTTAGGGCAAGTTCACTGTCTGTTGTTTCATGTCTGCATCTATGCAGACAAAAACAAAAAACAGATCTGTGTTAGCTGCTTCTCTTGCCCTGCCCCCGTCACAGGTACATGTACTGGACAGACTGGGGTGAGACGCCCCGGATTGAGCGGGCAGGGATGGATGGCAGCACCCGGAAGATCATTGTGGACTCGGACATTTACTGGCCCAATGGACTGACCATCGACCTGGAGGAGCAGAAGCTCTACTGGGCTGACACCAAGCTCAGCTTCATCCACCGTGCCAACCTGGACGGCTCGTTCCGGTAGGTACCCACGCAGTCCTGGGGCACCCCTTTCCCCTTTGTCCCCAGGGCTTTTGAAGGCGTTCCTTCTTAACTCAGGCCTACAGACTCTTCTCTGAAACTCTGGGGCCCTGAGGAATGCAGGACTTCTCAGAACTTGGAACAGCGTCAGGGTCTGTGTGGCATTTGCCACCAGCCCTTGAATATTTCTATAGCAAATGTGGCACGTTCATTCTAAGTAGGGCAGAAAAGACTATCTGTAGCCCACACCCATGCACAGTTTTTTTTTTTTTAACTTTGTTTTTTTGAGACAGAGTCTCACTCTTTCACCCAGGCTGGAGTGCAATGTCATAATCTCAGCTCACTGCAGCCCCCACCTCCCAGGCTCAAGCGATCCTCCCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTGCGCCACCACACCTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTCTCACATGTTGCTCAGGCTGGTCTCAAACTCCTAAGCTCAAGGGATCCTTCCCCTCGGCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCCATGCACCAAATGAGGTTTTGTCACCAGATGAGCAACAAAAGCTTTCCATCTTCAGAGCGTTTTGGATTTTGGAATTGTTGGGGAGGGCTTATGGCCCGGCAGGGTTGTGAACAGTAACCCTGTCACACGCACCACCCCCACCCTGGCCCTATCCCAGCTCAGGCATCCTGAGGGCAACAGCCGGAAGCTGTCTCAGTTATTGGTGCATTCCCCAGTCTCACCAGGGGGCCTTCCACATGGTCAGTGCTCAATAAAATGGGCCGAGAATGAGTAGGAAGGGTTTTCCCCTCGTTGGTTAATTGCTTTTAGAGCCTTCTGGTCAGCATAGCTTCCCAGCTCTGTACTTAATTACCCCTTATAGAAACATCCCTTCTGTGTACAGGTGAAGGGCAGTTTATTCACTAACCAAGTGCTGCCTGCTGCTAGCCCTGTGCTAGGTGTCAGGGATCCTCCTGGGACGGCAGACCCCATTCCTGCACTAGTGGAGCTCCTGGCCCAGGCAGGGATGTGGCAGGTGTCTGTGCAGAGGGCAGTAGTGACTGCATGGGAGGACTCAGTGGCTGGATTTCTGCAAACACAGGCCAACACCCACATGAACAGACTTGAGGGCTTGGGCAGCTTTGCTCCACACTTGCCAGGCCTCGTGTGTTAGTTATCCATTGCTGTGTAACAAAACAGCCCACAACTTAACAGCCTGAAACAGCAAACAGGTTTTTTATGGGGAGGGAGTCAGTGATGAGGAGTGGATTAGCTGGGTGCTTCTGGCTCAGGGTATGACCTGAGGGTACACTCAAGCTCCTGGCTGGGCCTCAGTCATCTGAAGGTTTGAGTGAGGCCGGGACATCCACTTCCAAGCTCATTCTCAGGGCAAGAGGCCTCAGTTTCTCCTGTTCCTCTTATGCTGAGCCACACATCTCTTTTGGGCTGGTTTGAAAATATCCTGTTGTCCCTGGAAGTGCAGACCAGCGGGTCTGGTTTGAGATTTGGAAATGTGGTTACCCTGTAGACTGTGGTTCTTGGGAGCTGAGTGATCTTACAGTTATGAAGGGTGGACAAGAGGATAGAAAGGCTGCAGCTGGGAGTGCCCTGGTCAAAGGATGGTGACAGGGGACAGTGAGGGTGATGGAGGTTGAAACATGCTAATGGTGGTGGCGGTGGCGGCAGCGAATCCTTCCATAGCACTTACTGTTTTCCAGGGACGTTTATCAGTTCATTTAATGCTCATACCACCTCTATGAAACGTTTGCTATTATGTTTTATTTTTATTTATATTTTTATTGTTTTGAGGCAGGGTCTCACTTTGTCACCCAGGCTGGAGTGCATTGGCACAATCATGGTTCACTGCAGCCTTGACCTCTTTTTTTGTTTGTTTGTTTGTTTTTTTTTTTTTTGGGATGGAGTCTTGCTCTGTCCCCCTGGCTGGAGTGCAGCGGCA
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Task1_train_16161
|
This variant lies on Chromosome 11 and affects the gene LRP5 (LDL receptor related protein 5). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Worth disease
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GGAACATGGAGAAGCAAAGCCACGTCGCCCACAGACCTACCCAGGAACAGCTGCAGCTGCAGGTTCAGGGTCCATCCCAGCCATGGGTTTTATTCTTTTTTTTTTGAGACGGAGTGTTGCTGTCTCCCAGGCTGAGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGTGACTACAGGTGTCCGCCACCATGCCCGGCTAATTTTTTTTTTTGTACTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCATCTCGGCCTCCCAAAGCGCTGGAATTACAGGCATGAGCCACCGCACCCAGCCTTTTTTTTTTTTTTTTTAGGCAGGGTCTCACTCTGTCATCCAGGCTGGAGTGCAGTGGTACAGTCACAGCTCACTGCAGCCTCGACCTCCCAGGGCTGAAGGGATCCTCCCACGTCAGCCTCCCAAGTAGCTGGGACTACAAGAGTGTGCCACCATGCCCAGCTAACTTTTTTTTAATTTTTATTTTTTGTAGAGGTGGGATTTTGCCATGTTGCCCAGGGTGGCTCAAGTGACCCACCCACCTCAGCCTCCCGAAGTACTGGAATTACAGGTGCAAGCCATCGTGCCTGGCCATGTTTTGTTGTTTTTAAATAGACTTAATTTTTTCAAACAGTTGTAGGTTCACAGCAAAATTGATGAGCAGCAGGTACTGAGTTCCTATACATCCCTGTCCTCACACCCACACAGCCTTCCCAACTGTCAGCATCCTGTGCAGGGTGGTACATTTGTTACAACTGATGAAAGCTGGCTGACGCACCATCACCCAAAATCCACGTTTACACGAGGGTTCGCCCTTGATTTGTACATTCTTGGTTTAGACAGATGAGTAAGGACATGCACCCACCATTCCATGTCATACAGGATAGTTCCACTGCCCTGATTTTCTGTGCTCCACTCATTCATCCCTCTCCTCTCCAACTCCTGGCAACCACTGATGCTTTACTGTCTCTGTGTATTTGCTTTTTCCAGAGTGTTTAGAACTGGACTCATACAGATTGGCTCTTTCACCTACTAACATGCATTTAAGTTTCCTCCATGTCTTTTCATGGCTTGATAGATCATTTCTTTTCTTTTCTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGATGGAGTGCAATGGTGCGATTTCTGCTCACTGCAACCTCCCCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGACTACAGGTGCTCACTACCACGCCTGGCTAATGTTTTGTATTTTTAGTAGGGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCCGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTAGAGGTGTGAGCCACTGGGCCCAGCCGATAGCTCATTTCTTTATACCACTAAATAATATTCCATCCTGAGTGTTTTGAATTGCCTTTTAGAGGTTCATTTACAGCATTTTCATGGTAGCAAAAAAATCAGAAATAACCTGAAGTTCTTTAAAAAACTTACAGCAGAGTACACTAGGCAATCATCAAAAGAACAAGGAATCTTTCTATCCACAAGAAGGGAAGGTGCCCAGAATTTACTGTTAACTGAGAACAAGTTGGAAATAGTATATTTTGATTGCCCAGCTTAAGGCAGGAATACCTGAAACCATACCTGTTGGTTATTTCCGATGGGTGAGATTTTAGGGCAAGTTCACTGTCTGTTGTTTCATGTCTGCATCTATGCAGACAAAAACAAAAAACAGATCTGTGTTAGCTGCTTCTCTTGCCCTGCCCCCGTCACAGGTACATGTACTGGACAGACTGGGGTGAGACGCCCCGGATTGAGCGGGCAGGGATGGATGGCAGCACCCGGAAGATCATTGTGGACTCGGACATTTACTGGCCCAATGGACTGACCATCGACCTGGAGGAGCAGAAGCTCTACTGGGCTGACGCCAAGCTCAGCTTCATCCACCGTGCCAACCTGGACGGCTCGTTCCGGTAGGTACCCACGCAGTCCTGGGGCACCCCTTTCCCCTTTGTCCCCAGGGCTTTTGAAGGCGTTCCTTCTTAACTCAGGCCTACAGACTCTTCTCTGAAACTCTGGGGCCCTGAGGAATGCAGGACTTCTCAGAACTTGGAACAGCGTCAGGGTCTGTGTGGCATTTGCCACCAGCCCTTGAATATTTCTATAGCAAATGTGGCACGTTCATTCTAAGTAGGGCAGAAAAGACTATCTGTAGCCCACACCCATGCACAGTTTTTTTTTTTTTAACTTTGTTTTTTTGAGACAGAGTCTCACTCTTTCACCCAGGCTGGAGTGCAATGTCATAATCTCAGCTCACTGCAGCCCCCACCTCCCAGGCTCAAGCGATCCTCCCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTGCGCCACCACACCTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTCTCACATGTTGCTCAGGCTGGTCTCAAACTCCTAAGCTCAAGGGATCCTTCCCCTCGGCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCCATGCACCAAATGAGGTTTTGTCACCAGATGAGCAACAAAAGCTTTCCATCTTCAGAGCGTTTTGGATTTTGGAATTGTTGGGGAGGGCTTATGGCCCGGCAGGGTTGTGAACAGTAACCCTGTCACACGCACCACCCCCACCCTGGCCCTATCCCAGCTCAGGCATCCTGAGGGCAACAGCCGGAAGCTGTCTCAGTTATTGGTGCATTCCCCAGTCTCACCAGGGGGCCTTCCACATGGTCAGTGCTCAATAAAATGGGCCGAGAATGAGTAGGAAGGGTTTTCCCCTCGTTGGTTAATTGCTTTTAGAGCCTTCTGGTCAGCATAGCTTCCCAGCTCTGTACTTAATTACCCCTTATAGAAACATCCCTTCTGTGTACAGGTGAAGGGCAGTTTATTCACTAACCAAGTGCTGCCTGCTGCTAGCCCTGTGCTAGGTGTCAGGGATCCTCCTGGGACGGCAGACCCCATTCCTGCACTAGTGGAGCTCCTGGCCCAGGCAGGGATGTGGCAGGTGTCTGTGCAGAGGGCAGTAGTGACTGCATGGGAGGACTCAGTGGCTGGATTTCTGCAAACACAGGCCAACACCCACATGAACAGACTTGAGGGCTTGGGCAGCTTTGCTCCACACTTGCCAGGCCTCGTGTGTTAGTTATCCATTGCTGTGTAACAAAACAGCCCACAACTTAACAGCCTGAAACAGCAAACAGGTTTTTTATGGGGAGGGAGTCAGTGATGAGGAGTGGATTAGCTGGGTGCTTCTGGCTCAGGGTATGACCTGAGGGTACACTCAAGCTCCTGGCTGGGCCTCAGTCATCTGAAGGTTTGAGTGAGGCCGGGACATCCACTTCCAAGCTCATTCTCAGGGCAAGAGGCCTCAGTTTCTCCTGTTCCTCTTATGCTGAGCCACACATCTCTTTTGGGCTGGTTTGAAAATATCCTGTTGTCCCTGGAAGTGCAGACCAGCGGGTCTGGTTTGAGATTTGGAAATGTGGTTACCCTGTAGACTGTGGTTCTTGGGAGCTGAGTGATCTTACAGTTATGAAGGGTGGACAAGAGGATAGAAAGGCTGCAGCTGGGAGTGCCCTGGTCAAAGGATGGTGACAGGGGACAGTGAGGGTGATGGAGGTTGAAACATGCTAATGGTGGTGGCGGTGGCGGCAGCGAATCCTTCCATAGCACTTACTGTTTTCCAGGGACGTTTATCAGTTCATTTAATGCTCATACCACCTCTATGAAACGTTTGCTATTATGTTTTATTTTTATTTATATTTTTATTGTTTTGAGGCAGGGTCTCACTTTGTCACCCAGGCTGGAGTGCATTGGCACAATCATGGTTCACTGCAGCCTTGACCTCTTTTTTTGTTTGTTTGTTTGTTTTTTTTTTTTTTGGGATGGAGTCTTGCTCTGTCCCCCTGGCTGGAGTGCAGCGGCAC
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GGAACATGGAGAAGCAAAGCCACGTCGCCCACAGACCTACCCAGGAACAGCTGCAGCTGCAGGTTCAGGGTCCATCCCAGCCATGGGTTTTATTCTTTTTTTTTTGAGACGGAGTGTTGCTGTCTCCCAGGCTGAGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGTGACTACAGGTGTCCGCCACCATGCCCGGCTAATTTTTTTTTTTGTACTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCATCTCGGCCTCCCAAAGCGCTGGAATTACAGGCATGAGCCACCGCACCCAGCCTTTTTTTTTTTTTTTTTAGGCAGGGTCTCACTCTGTCATCCAGGCTGGAGTGCAGTGGTACAGTCACAGCTCACTGCAGCCTCGACCTCCCAGGGCTGAAGGGATCCTCCCACGTCAGCCTCCCAAGTAGCTGGGACTACAAGAGTGTGCCACCATGCCCAGCTAACTTTTTTTTAATTTTTATTTTTTGTAGAGGTGGGATTTTGCCATGTTGCCCAGGGTGGCTCAAGTGACCCACCCACCTCAGCCTCCCGAAGTACTGGAATTACAGGTGCAAGCCATCGTGCCTGGCCATGTTTTGTTGTTTTTAAATAGACTTAATTTTTTCAAACAGTTGTAGGTTCACAGCAAAATTGATGAGCAGCAGGTACTGAGTTCCTATACATCCCTGTCCTCACACCCACACAGCCTTCCCAACTGTCAGCATCCTGTGCAGGGTGGTACATTTGTTACAACTGATGAAAGCTGGCTGACGCACCATCACCCAAAATCCACGTTTACACGAGGGTTCGCCCTTGATTTGTACATTCTTGGTTTAGACAGATGAGTAAGGACATGCACCCACCATTCCATGTCATACAGGATAGTTCCACTGCCCTGATTTTCTGTGCTCCACTCATTCATCCCTCTCCTCTCCAACTCCTGGCAACCACTGATGCTTTACTGTCTCTGTGTATTTGCTTTTTCCAGAGTGTTTAGAACTGGACTCATACAGATTGGCTCTTTCACCTACTAACATGCATTTAAGTTTCCTCCATGTCTTTTCATGGCTTGATAGATCATTTCTTTTCTTTTCTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGATGGAGTGCAATGGTGCGATTTCTGCTCACTGCAACCTCCCCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGACTACAGGTGCTCACTACCACGCCTGGCTAATGTTTTGTATTTTTAGTAGGGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCCGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTAGAGGTGTGAGCCACTGGGCCCAGCCGATAGCTCATTTCTTTATACCACTAAATAATATTCCATCCTGAGTGTTTTGAATTGCCTTTTAGAGGTTCATTTACAGCATTTTCATGGTAGCAAAAAAATCAGAAATAACCTGAAGTTCTTTAAAAAACTTACAGCAGAGTACACTAGGCAATCATCAAAAGAACAAGGAATCTTTCTATCCACAAGAAGGGAAGGTGCCCAGAATTTACTGTTAACTGAGAACAAGTTGGAAATAGTATATTTTGATTGCCCAGCTTAAGGCAGGAATACCTGAAACCATACCTGTTGGTTATTTCCGATGGGTGAGATTTTAGGGCAAGTTCACTGTCTGTTGTTTCATGTCTGCATCTATGCAGACAAAAACAAAAAACAGATCTGTGTTAGCTGCTTCTCTTGCCCTGCCCCCGTCACAGGTACATGTACTGGACAGACTGGGGTGAGACGCCCCGGATTGAGCGGGCAGGGATGGATGGCAGCACCCGGAAGATCATTGTGGACTCGGACATTTACTGGCCCAATGGACTGACCATCGACCTGGAGGAGCAGAAGCTCTACTGGGCTGACGTCAAGCTCAGCTTCATCCACCGTGCCAACCTGGACGGCTCGTTCCGGTAGGTACCCACGCAGTCCTGGGGCACCCCTTTCCCCTTTGTCCCCAGGGCTTTTGAAGGCGTTCCTTCTTAACTCAGGCCTACAGACTCTTCTCTGAAACTCTGGGGCCCTGAGGAATGCAGGACTTCTCAGAACTTGGAACAGCGTCAGGGTCTGTGTGGCATTTGCCACCAGCCCTTGAATATTTCTATAGCAAATGTGGCACGTTCATTCTAAGTAGGGCAGAAAAGACTATCTGTAGCCCACACCCATGCACAGTTTTTTTTTTTTTAACTTTGTTTTTTTGAGACAGAGTCTCACTCTTTCACCCAGGCTGGAGTGCAATGTCATAATCTCAGCTCACTGCAGCCCCCACCTCCCAGGCTCAAGCGATCCTCCCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTGCGCCACCACACCTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTCTCACATGTTGCTCAGGCTGGTCTCAAACTCCTAAGCTCAAGGGATCCTTCCCCTCGGCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCCATGCACCAAATGAGGTTTTGTCACCAGATGAGCAACAAAAGCTTTCCATCTTCAGAGCGTTTTGGATTTTGGAATTGTTGGGGAGGGCTTATGGCCCGGCAGGGTTGTGAACAGTAACCCTGTCACACGCACCACCCCCACCCTGGCCCTATCCCAGCTCAGGCATCCTGAGGGCAACAGCCGGAAGCTGTCTCAGTTATTGGTGCATTCCCCAGTCTCACCAGGGGGCCTTCCACATGGTCAGTGCTCAATAAAATGGGCCGAGAATGAGTAGGAAGGGTTTTCCCCTCGTTGGTTAATTGCTTTTAGAGCCTTCTGGTCAGCATAGCTTCCCAGCTCTGTACTTAATTACCCCTTATAGAAACATCCCTTCTGTGTACAGGTGAAGGGCAGTTTATTCACTAACCAAGTGCTGCCTGCTGCTAGCCCTGTGCTAGGTGTCAGGGATCCTCCTGGGACGGCAGACCCCATTCCTGCACTAGTGGAGCTCCTGGCCCAGGCAGGGATGTGGCAGGTGTCTGTGCAGAGGGCAGTAGTGACTGCATGGGAGGACTCAGTGGCTGGATTTCTGCAAACACAGGCCAACACCCACATGAACAGACTTGAGGGCTTGGGCAGCTTTGCTCCACACTTGCCAGGCCTCGTGTGTTAGTTATCCATTGCTGTGTAACAAAACAGCCCACAACTTAACAGCCTGAAACAGCAAACAGGTTTTTTATGGGGAGGGAGTCAGTGATGAGGAGTGGATTAGCTGGGTGCTTCTGGCTCAGGGTATGACCTGAGGGTACACTCAAGCTCCTGGCTGGGCCTCAGTCATCTGAAGGTTTGAGTGAGGCCGGGACATCCACTTCCAAGCTCATTCTCAGGGCAAGAGGCCTCAGTTTCTCCTGTTCCTCTTATGCTGAGCCACACATCTCTTTTGGGCTGGTTTGAAAATATCCTGTTGTCCCTGGAAGTGCAGACCAGCGGGTCTGGTTTGAGATTTGGAAATGTGGTTACCCTGTAGACTGTGGTTCTTGGGAGCTGAGTGATCTTACAGTTATGAAGGGTGGACAAGAGGATAGAAAGGCTGCAGCTGGGAGTGCCCTGGTCAAAGGATGGTGACAGGGGACAGTGAGGGTGATGGAGGTTGAAACATGCTAATGGTGGTGGCGGTGGCGGCAGCGAATCCTTCCATAGCACTTACTGTTTTCCAGGGACGTTTATCAGTTCATTTAATGCTCATACCACCTCTATGAAACGTTTGCTATTATGTTTTATTTTTATTTATATTTTTATTGTTTTGAGGCAGGGTCTCACTTTGTCACCCAGGCTGGAGTGCATTGGCACAATCATGGTTCACTGCAGCCTTGACCTCTTTTTTTGTTTGTTTGTTTGTTTTTTTTTTTTTTGGGATGGAGTCTTGCTCTGTCCCCCTGGCTGGAGTGCAGCGGCAC
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Task1_train_16162
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This mutation occurs in LRP5 (LDL receptor related protein 5) on Chromosome 11. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Osteoporosis with pseudoglioma
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GCTTAGGAGATTGAGGCTGCAGTGAGCCATGATCACACCACCGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGTCTCAGAAAACAAACAAAAAAGACAACATTGTGGAAAACAGTTTGTTGATTCCTTGAGACGTAAACATTGATTTACGTATGACCCAGCAATTCCGCTCCTAGCTGTATACTCTTAAGAATCGAAAACAGGTCTTCACACAAAATGTGAATGGACAGTAATGTCCGTAGCAGCACTGTGCACAACAGCCGAGGGTGGAAATGACACAAAGGTCCCCCAGTGGGTGAATGGATGCACAGATTGGGTTCTGTCTGCACACTGGAATATGGTTCACCCCTAAAACGGGATGAAGCACTGACATGCTACAGCCTGGATGAACCTCGAAAACATGGTGCCAAGTCAAAGAAGACAGACATCAGAGGCTGTATATTGTGATTCCGTTTATATGAGATGTTGAGAATGTGTGTAGTTAAGTCCATCAAAAGTGTTTGCCGGGGCTGGGGGCGGGGACTGGGGAGTGACTGCTGCCGGGTGTGGGGTTTGCCTGTGGGGCAATGGAAGTGCTTTGGAACTAGACAGAAGTGGAGGCTGCACCGCCTTGCGAATGCACTAGGTAACACTATTCACTTTAAAGTGGTAAATTTAGGCTGGGTGCAGTGGCTTATGCCTGTAATCCCAGCACTTTGAGAGGCCAAGGCGGGTGGATCGCCTGAGCTCAGGGCTTCAAGACCAGCCTTGGGCAACATGGCGAAACCCTGTCTCTACCAAAAAGATACCCCCCAAAAATTAGCTGGGTGTGGTGGTGCACGCCTGTGGTCCCAGCTACTCTGGAGGCGGAGGTGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCAACCTGGGTGACAGAGTGAGACCCCATCTCCAAAAAAAAAAAAAAAAGTAAACGTATGTCCTGTGAATTTTACTTCAATAATTTTCTTAAAAAACAGCATCAACAAAAATGAACAGAAGAGGTGGTGGATCTGCAGAGCCCACAGCTCCCATCTTCCCTGTGCCACTTCATGAGTGTCACCCTCTCCTGGCAACTGTGCTGAGGGCTGGGGACGTGGCGGGGACCCTCTGCCCCCAGGCCCACCCTCAGGGAGCCTGTCACGGGGCGAGGGTCATTAAGCAAATAAAACTGCACATTACCGACCACGTCACATTATGATCCTGTTTCCAGTGTCCATAATCTCATTACACCCGAGTCCTCATTTGCTGGGCACTGTAAGCATCTAGAAAAGAATAGCTGTTTCTCGGGTTGATGCCAAGTTTCATTTACTCTGAAAGTATAAATTATGAGCATTGTAAGAAGGAGCGAGTGCACATGGCCTGATTTGTATACAGAGGTTAAAGCGTTGGGCAGGAGAGGTGTGCTTTTTGCCAGGCATGGCTTCCTCCTTTCTTCCCTGGGGGAGACTTTGCCACTTGACCTGGGGGAGCCCGTGTGTCACCATCACAGGCTGTGTTTGGGAGGTGCCCTGTGCACGCCGGGAGAAATGTACGAGGGCGCCAGCTCCTGGGGCTCTTGACCTGGCCTCACTTGTCTGGTTGAAAGCAAATGGGAAGCCTGGCATGGTGGCGCACGCCTGTAATCCCAGCGCTTTGAGAGGCTGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTTGCCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATCATCTGGGCGTAGTGGTGGGCATCAGTGATCCCAGCTACTCGGGAGGCTGAGGCAGGATAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATTACATCACTGCACTCCAGCCTGGGCGACAGACCGAGACTCCATCTCAAAAAAAAAAAAAGAAATTAATTGGGTCAGCAGCAATGACTGTCGGGGGACCCTCCTGATGGCTCCTCCACCCCGCTTCCCTGACTGCAGGCAGAAGGTGGTGGAGGGCAGCCTGACGCACCCCTTCGCCCTGACGCTCTCCGGGGACACTCTGTACTGGACAGACTGGCAGACCCGCTCCATCCATGCCTGCAACAAGCGCACTGGGGGGAAGAGGAAGGAGATCCTGAGTGCCCTCTACTCACCCATGGACATCCAGGTGCTGAGCCAGGAGCGGCAGCCTTTCTGTGAGTGCCGGCTGGGGCGCGGGGGCGAGGGTGCGGGGGCTGGGGGGAGCGGGGGCGCGGGGCAGGGGAGTGGGAGGATGCGGGGGCGTGGGGGTGCGCGGGCGTGGGTGGGGTGGGGGGGCAGGTGACCCCTCCCTGCAGAAGCCCATGCTCTGGGGGGCCCCCTCTCTAAAGGGGTACCTGCTGCAATGGAGGGAGGTGTGTGGCTGGCTGGGGGACACGGGCCTGCAGAGGACCCCTCTGCAGAGCTCATGGGGGCTATTTCAGGCTCAGCAGTGGCAAGGGGATTTCCAAGGAAGGTTGCCTCGTTTTCAAGGCCCAGAAGAAGTTGTCTGTGTGTGTGTGTATATGTATTTATATACACATACACGTATGTGTGTATATATATATATGGTTATTTATATATACATATATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTATTTTTAATAGAGATGAGAGATTTTGCCACGTTGCCCAGGCTTGTCTCAAACTCCTGGGCTCCAGTGATCCTCACACCTTGACTTCCCAAAGTGCTGGGGTCACAGGTATGAGCCACCATGCTTGGCCCTGCAAGTCGCGTATTTATCAATGAATAATCTGCCCAGAATCAGCAGTTCTCAGCCTGGGGGCCACGCTGGGTTGTGACAGAGGTCCCTGATGGGGAAATGCACCAGCTTCTGTGACAGTGGGGCTGCGGCTCTGGGGACAGTGGCCCACTCCCACAGGGACCAGGGATGGAGATTTCTGGCCAGGCCATTATGGAAGGTTTGGACTTTGAATTGAAATGTGGGGCCTAGGGGTGCCAGCTGTTCCCAGAGCAGGACACAGGAGGGTGGGGCTCTCTGGAGCTGTTTCCTGGTGAGAAAGTCGTGGTCACAAAACCCATCTACACTTGGGGCAGCATGAGGGAGGGAGAGGTTCATTTTGATGAGTTTGTTGTTCCAGTTATATCCGTATTTTGGGGCTGCTACACCCAGCTTTCCCCTGGTTTGAATGAGGTGCTGGAAGCATTTATCGAGTTCCGTTCAATTGCTGTTGGTCATAGAAGGGCTTGGGAGAGTGACAAGCTTGGCCATCCCAGCAAGAGGGACAGTGTTCCTATGGAAGCTGCTGGGTCCACACATAGCACAAAGACAAGACAAGCCTTTTGCCCAGGAGCCCATTGTCTCTGGGGTTCCCGTCACTACCACACAGGCAGGTCCTGACCCCGGCCATTGGAGCGTGGGGGGCAGCCTTTGCAGAGGGGTGTCCTTTGGGGGCTCCGAGGAGCTGGGGAGGGTGTTCTAGTCATAGGAGCTTGGTGGGAGGAAGCAGATGGGGAGATGTCACTCCATGGGCAGGTCACATCTGGGTGTGAGGGTGGCCAGGAAGGTCACGGCTGGTTTTGGGGAAATTGCAGGCCGTCTGGCCAGGCTGAGGGCCCCATGTGGACGGGCCAGCGATGAGGCAGGTGGAATGGTGCCAGCGGGGAGGTCCCTGATGCCACTTGAGGCCGATGTTTGGGCAGAGGGACACACTGGAGGCTGTCACGGGGGACGAGGCAGGATGTGACTCATTCAGAAACAAGTGACGGTCCTCTTCTGGAACCTTCTCTCACTCTGTCCTGGTTTTCTCAGTCCACACTCGCTGTGAGGAGGACAATGGCGGCTGCTCCCACCTGTGCCTGCTGTCCCCAAGCGAGCCTTTCTACACATGCGCCTGCCCCACGGGTGTGCAGCTGCAGGACAACGGCAGGACGTGTAAGGCAGGTGAGGCGGTGGGACGGGACGGGGCGGGCGGGCGGGGCGGGGCCTGGCGGGAATGGGTTGCGGCCGCCGGGGGTGCCCCAGAAGGAACCTCGGCAAACCCGTTCGAAATGATCCACTTGGCGGGTGTGGTGATTCA
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GCTTAGGAGATTGAGGCTGCAGTGAGCCATGATCACACCACCGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGTCTCAGAAAACAAACAAAAAAGACAACATTGTGGAAAACAGTTTGTTGATTCCTTGAGACGTAAACATTGATTTACGTATGACCCAGCAATTCCGCTCCTAGCTGTATACTCTTAAGAATCGAAAACAGGTCTTCACACAAAATGTGAATGGACAGTAATGTCCGTAGCAGCACTGTGCACAACAGCCGAGGGTGGAAATGACACAAAGGTCCCCCAGTGGGTGAATGGATGCACAGATTGGGTTCTGTCTGCACACTGGAATATGGTTCACCCCTAAAACGGGATGAAGCACTGACATGCTACAGCCTGGATGAACCTCGAAAACATGGTGCCAAGTCAAAGAAGACAGACATCAGAGGCTGTATATTGTGATTCCGTTTATATGAGATGTTGAGAATGTGTGTAGTTAAGTCCATCAAAAGTGTTTGCCGGGGCTGGGGGCGGGGACTGGGGAGTGACTGCTGCCGGGTGTGGGGTTTGCCTGTGGGGCAATGGAAGTGCTTTGGAACTAGACAGAAGTGGAGGCTGCACCGCCTTGCGAATGCACTAGGTAACACTATTCACTTTAAAGTGGTAAATTTAGGCTGGGTGCAGTGGCTTATGCCTGTAATCCCAGCACTTTGAGAGGCCAAGGCGGGTGGATCGCCTGAGCTCAGGGCTTCAAGACCAGCCTTGGGCAACATGGCGAAACCCTGTCTCTACCAAAAAGATACCCCCCAAAAATTAGCTGGGTGTGGTGGTGCACGCCTGTGGTCCCAGCTACTCTGGAGGCGGAGGTGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCAACCTGGGTGACAGAGTGAGACCCCATCTCCAAAAAAAAAAAAAAAAGTAAACGTATGTCCTGTGAATTTTACTTCAATAATTTTCTTAAAAAACAGCATCAACAAAAATGAACAGAAGAGGTGGTGGATCTGCAGAGCCCACAGCTCCCATCTTCCCTGTGCCACTTCATGAGTGTCACCCTCTCCTGGCAACTGTGCTGAGGGCTGGGGACGTGGCGGGGACCCTCTGCCCCCAGGCCCACCCTCAGGGAGCCTGTCACGGGGCGAGGGTCATTAAGCAAATAAAACTGCACATTACCGACCACGTCACATTATGATCCTGTTTCCAGTGTCCATAATCTCATTACACCCGAGTCCTCATTTGCTGGGCACTGTAAGCATCTAGAAAAGAATAGCTGTTTCTCGGGTTGATGCCAAGTTTCATTTACTCTGAAAGTATAAATTATGAGCATTGTAAGAAGGAGCGAGTGCACATGGCCTGATTTGTATACAGAGGTTAAAGCGTTGGGCAGGAGAGGTGTGCTTTTTGCCAGGCATGGCTTCCTCCTTTCTTCCCTGGGGGAGACTTTGCCACTTGACCTGGGGGAGCCCGTGTGTCACCATCACAGGCTGTGTTTGGGAGGTGCCCTGTGCACGCCGGGAGAAATGTACGAGGGCGCCAGCTCCTGGGGCTCTTGACCTGGCCTCACTTGTCTGGTTGAAAGCAAATGGGAAGCCTGGCATGGTGGCGCACGCCTGTAATCCCAGCGCTTTGAGAGGCTGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTTGCCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATCATCTGGGCGTAGTGGTGGGCATCAGTGATCCCAGCTACTCGGGAGGCTGAGGCAGGATAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATTACATCACTGCACTCCAGCCTGGGCGACAGACCGAGACTCCATCTCAAAAAAAAAAAAAGAAATTAATTGGGTCAGCAGCAATGACTGTCGGGGGACCCTCCTGATGGCTCCTCCACCCCGCTTCCCTGACTGCAGGCAGAAGGTGGTGGAGGGCAGCCTGACGCACCCCTTCGCCCTGATGCTCTCCGGGGACACTCTGTACTGGACAGACTGGCAGACCCGCTCCATCCATGCCTGCAACAAGCGCACTGGGGGGAAGAGGAAGGAGATCCTGAGTGCCCTCTACTCACCCATGGACATCCAGGTGCTGAGCCAGGAGCGGCAGCCTTTCTGTGAGTGCCGGCTGGGGCGCGGGGGCGAGGGTGCGGGGGCTGGGGGGAGCGGGGGCGCGGGGCAGGGGAGTGGGAGGATGCGGGGGCGTGGGGGTGCGCGGGCGTGGGTGGGGTGGGGGGGCAGGTGACCCCTCCCTGCAGAAGCCCATGCTCTGGGGGGCCCCCTCTCTAAAGGGGTACCTGCTGCAATGGAGGGAGGTGTGTGGCTGGCTGGGGGACACGGGCCTGCAGAGGACCCCTCTGCAGAGCTCATGGGGGCTATTTCAGGCTCAGCAGTGGCAAGGGGATTTCCAAGGAAGGTTGCCTCGTTTTCAAGGCCCAGAAGAAGTTGTCTGTGTGTGTGTGTATATGTATTTATATACACATACACGTATGTGTGTATATATATATATGGTTATTTATATATACATATATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTATTTTTAATAGAGATGAGAGATTTTGCCACGTTGCCCAGGCTTGTCTCAAACTCCTGGGCTCCAGTGATCCTCACACCTTGACTTCCCAAAGTGCTGGGGTCACAGGTATGAGCCACCATGCTTGGCCCTGCAAGTCGCGTATTTATCAATGAATAATCTGCCCAGAATCAGCAGTTCTCAGCCTGGGGGCCACGCTGGGTTGTGACAGAGGTCCCTGATGGGGAAATGCACCAGCTTCTGTGACAGTGGGGCTGCGGCTCTGGGGACAGTGGCCCACTCCCACAGGGACCAGGGATGGAGATTTCTGGCCAGGCCATTATGGAAGGTTTGGACTTTGAATTGAAATGTGGGGCCTAGGGGTGCCAGCTGTTCCCAGAGCAGGACACAGGAGGGTGGGGCTCTCTGGAGCTGTTTCCTGGTGAGAAAGTCGTGGTCACAAAACCCATCTACACTTGGGGCAGCATGAGGGAGGGAGAGGTTCATTTTGATGAGTTTGTTGTTCCAGTTATATCCGTATTTTGGGGCTGCTACACCCAGCTTTCCCCTGGTTTGAATGAGGTGCTGGAAGCATTTATCGAGTTCCGTTCAATTGCTGTTGGTCATAGAAGGGCTTGGGAGAGTGACAAGCTTGGCCATCCCAGCAAGAGGGACAGTGTTCCTATGGAAGCTGCTGGGTCCACACATAGCACAAAGACAAGACAAGCCTTTTGCCCAGGAGCCCATTGTCTCTGGGGTTCCCGTCACTACCACACAGGCAGGTCCTGACCCCGGCCATTGGAGCGTGGGGGGCAGCCTTTGCAGAGGGGTGTCCTTTGGGGGCTCCGAGGAGCTGGGGAGGGTGTTCTAGTCATAGGAGCTTGGTGGGAGGAAGCAGATGGGGAGATGTCACTCCATGGGCAGGTCACATCTGGGTGTGAGGGTGGCCAGGAAGGTCACGGCTGGTTTTGGGGAAATTGCAGGCCGTCTGGCCAGGCTGAGGGCCCCATGTGGACGGGCCAGCGATGAGGCAGGTGGAATGGTGCCAGCGGGGAGGTCCCTGATGCCACTTGAGGCCGATGTTTGGGCAGAGGGACACACTGGAGGCTGTCACGGGGGACGAGGCAGGATGTGACTCATTCAGAAACAAGTGACGGTCCTCTTCTGGAACCTTCTCTCACTCTGTCCTGGTTTTCTCAGTCCACACTCGCTGTGAGGAGGACAATGGCGGCTGCTCCCACCTGTGCCTGCTGTCCCCAAGCGAGCCTTTCTACACATGCGCCTGCCCCACGGGTGTGCAGCTGCAGGACAACGGCAGGACGTGTAAGGCAGGTGAGGCGGTGGGACGGGACGGGGCGGGCGGGCGGGGCGGGGCCTGGCGGGAATGGGTTGCGGCCGCCGGGGGTGCCCCAGAAGGAACCTCGGCAAACCCGTTCGAAATGATCCACTTGGCGGGTGTGGTGATTCA
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Task1_train_16163
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Gene LRP5 (LDL receptor related protein 5) on Chromosome 11 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Autosomal dominant osteopetrosis 1
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CATGATCACACCACCGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGTCTCAGAAAACAAACAAAAAAGACAACATTGTGGAAAACAGTTTGTTGATTCCTTGAGACGTAAACATTGATTTACGTATGACCCAGCAATTCCGCTCCTAGCTGTATACTCTTAAGAATCGAAAACAGGTCTTCACACAAAATGTGAATGGACAGTAATGTCCGTAGCAGCACTGTGCACAACAGCCGAGGGTGGAAATGACACAAAGGTCCCCCAGTGGGTGAATGGATGCACAGATTGGGTTCTGTCTGCACACTGGAATATGGTTCACCCCTAAAACGGGATGAAGCACTGACATGCTACAGCCTGGATGAACCTCGAAAACATGGTGCCAAGTCAAAGAAGACAGACATCAGAGGCTGTATATTGTGATTCCGTTTATATGAGATGTTGAGAATGTGTGTAGTTAAGTCCATCAAAAGTGTTTGCCGGGGCTGGGGGCGGGGACTGGGGAGTGACTGCTGCCGGGTGTGGGGTTTGCCTGTGGGGCAATGGAAGTGCTTTGGAACTAGACAGAAGTGGAGGCTGCACCGCCTTGCGAATGCACTAGGTAACACTATTCACTTTAAAGTGGTAAATTTAGGCTGGGTGCAGTGGCTTATGCCTGTAATCCCAGCACTTTGAGAGGCCAAGGCGGGTGGATCGCCTGAGCTCAGGGCTTCAAGACCAGCCTTGGGCAACATGGCGAAACCCTGTCTCTACCAAAAAGATACCCCCCAAAAATTAGCTGGGTGTGGTGGTGCACGCCTGTGGTCCCAGCTACTCTGGAGGCGGAGGTGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCAACCTGGGTGACAGAGTGAGACCCCATCTCCAAAAAAAAAAAAAAAAGTAAACGTATGTCCTGTGAATTTTACTTCAATAATTTTCTTAAAAAACAGCATCAACAAAAATGAACAGAAGAGGTGGTGGATCTGCAGAGCCCACAGCTCCCATCTTCCCTGTGCCACTTCATGAGTGTCACCCTCTCCTGGCAACTGTGCTGAGGGCTGGGGACGTGGCGGGGACCCTCTGCCCCCAGGCCCACCCTCAGGGAGCCTGTCACGGGGCGAGGGTCATTAAGCAAATAAAACTGCACATTACCGACCACGTCACATTATGATCCTGTTTCCAGTGTCCATAATCTCATTACACCCGAGTCCTCATTTGCTGGGCACTGTAAGCATCTAGAAAAGAATAGCTGTTTCTCGGGTTGATGCCAAGTTTCATTTACTCTGAAAGTATAAATTATGAGCATTGTAAGAAGGAGCGAGTGCACATGGCCTGATTTGTATACAGAGGTTAAAGCGTTGGGCAGGAGAGGTGTGCTTTTTGCCAGGCATGGCTTCCTCCTTTCTTCCCTGGGGGAGACTTTGCCACTTGACCTGGGGGAGCCCGTGTGTCACCATCACAGGCTGTGTTTGGGAGGTGCCCTGTGCACGCCGGGAGAAATGTACGAGGGCGCCAGCTCCTGGGGCTCTTGACCTGGCCTCACTTGTCTGGTTGAAAGCAAATGGGAAGCCTGGCATGGTGGCGCACGCCTGTAATCCCAGCGCTTTGAGAGGCTGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTTGCCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATCATCTGGGCGTAGTGGTGGGCATCAGTGATCCCAGCTACTCGGGAGGCTGAGGCAGGATAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATTACATCACTGCACTCCAGCCTGGGCGACAGACCGAGACTCCATCTCAAAAAAAAAAAAAGAAATTAATTGGGTCAGCAGCAATGACTGTCGGGGGACCCTCCTGATGGCTCCTCCACCCCGCTTCCCTGACTGCAGGCAGAAGGTGGTGGAGGGCAGCCTGACGCACCCCTTCGCCCTGACGCTCTCCGGGGACACTCTGTACTGGACAGACTGGCAGACCCGCTCCATCCATGCCTGCAACAAGCGCACTGGGGGGAAGAGGAAGGAGATCCTGAGTGCCCTCTACTCACCCATGGACATCCAGGTGCTGAGCCAGGAGCGGCAGCCTTTCTGTGAGTGCCGGCTGGGGCGCGGGGGCGAGGGTGCGGGGGCTGGGGGGAGCGGGGGCGCGGGGCAGGGGAGTGGGAGGATGCGGGGGCGTGGGGGTGCGCGGGCGTGGGTGGGGTGGGGGGGCAGGTGACCCCTCCCTGCAGAAGCCCATGCTCTGGGGGGCCCCCTCTCTAAAGGGGTACCTGCTGCAATGGAGGGAGGTGTGTGGCTGGCTGGGGGACACGGGCCTGCAGAGGACCCCTCTGCAGAGCTCATGGGGGCTATTTCAGGCTCAGCAGTGGCAAGGGGATTTCCAAGGAAGGTTGCCTCGTTTTCAAGGCCCAGAAGAAGTTGTCTGTGTGTGTGTGTATATGTATTTATATACACATACACGTATGTGTGTATATATATATATGGTTATTTATATATACATATATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTATTTTTAATAGAGATGAGAGATTTTGCCACGTTGCCCAGGCTTGTCTCAAACTCCTGGGCTCCAGTGATCCTCACACCTTGACTTCCCAAAGTGCTGGGGTCACAGGTATGAGCCACCATGCTTGGCCCTGCAAGTCGCGTATTTATCAATGAATAATCTGCCCAGAATCAGCAGTTCTCAGCCTGGGGGCCACGCTGGGTTGTGACAGAGGTCCCTGATGGGGAAATGCACCAGCTTCTGTGACAGTGGGGCTGCGGCTCTGGGGACAGTGGCCCACTCCCACAGGGACCAGGGATGGAGATTTCTGGCCAGGCCATTATGGAAGGTTTGGACTTTGAATTGAAATGTGGGGCCTAGGGGTGCCAGCTGTTCCCAGAGCAGGACACAGGAGGGTGGGGCTCTCTGGAGCTGTTTCCTGGTGAGAAAGTCGTGGTCACAAAACCCATCTACACTTGGGGCAGCATGAGGGAGGGAGAGGTTCATTTTGATGAGTTTGTTGTTCCAGTTATATCCGTATTTTGGGGCTGCTACACCCAGCTTTCCCCTGGTTTGAATGAGGTGCTGGAAGCATTTATCGAGTTCCGTTCAATTGCTGTTGGTCATAGAAGGGCTTGGGAGAGTGACAAGCTTGGCCATCCCAGCAAGAGGGACAGTGTTCCTATGGAAGCTGCTGGGTCCACACATAGCACAAAGACAAGACAAGCCTTTTGCCCAGGAGCCCATTGTCTCTGGGGTTCCCGTCACTACCACACAGGCAGGTCCTGACCCCGGCCATTGGAGCGTGGGGGGCAGCCTTTGCAGAGGGGTGTCCTTTGGGGGCTCCGAGGAGCTGGGGAGGGTGTTCTAGTCATAGGAGCTTGGTGGGAGGAAGCAGATGGGGAGATGTCACTCCATGGGCAGGTCACATCTGGGTGTGAGGGTGGCCAGGAAGGTCACGGCTGGTTTTGGGGAAATTGCAGGCCGTCTGGCCAGGCTGAGGGCCCCATGTGGACGGGCCAGCGATGAGGCAGGTGGAATGGTGCCAGCGGGGAGGTCCCTGATGCCACTTGAGGCCGATGTTTGGGCAGAGGGACACACTGGAGGCTGTCACGGGGGACGAGGCAGGATGTGACTCATTCAGAAACAAGTGACGGTCCTCTTCTGGAACCTTCTCTCACTCTGTCCTGGTTTTCTCAGTCCACACTCGCTGTGAGGAGGACAATGGCGGCTGCTCCCACCTGTGCCTGCTGTCCCCAAGCGAGCCTTTCTACACATGCGCCTGCCCCACGGGTGTGCAGCTGCAGGACAACGGCAGGACGTGTAAGGCAGGTGAGGCGGTGGGACGGGACGGGGCGGGCGGGCGGGGCGGGGCCTGGCGGGAATGGGTTGCGGCCGCCGGGGGTGCCCCAGAAGGAACCTCGGCAAACCCGTTCGAAATGATCCACTTGGCGGGTGTGGTGATTCAAGTCTGTGGTCCCAGCTACTCGGGAAG
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CATGATCACACCACCGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGTCTCAGAAAACAAACAAAAAAGACAACATTGTGGAAAACAGTTTGTTGATTCCTTGAGACGTAAACATTGATTTACGTATGACCCAGCAATTCCGCTCCTAGCTGTATACTCTTAAGAATCGAAAACAGGTCTTCACACAAAATGTGAATGGACAGTAATGTCCGTAGCAGCACTGTGCACAACAGCCGAGGGTGGAAATGACACAAAGGTCCCCCAGTGGGTGAATGGATGCACAGATTGGGTTCTGTCTGCACACTGGAATATGGTTCACCCCTAAAACGGGATGAAGCACTGACATGCTACAGCCTGGATGAACCTCGAAAACATGGTGCCAAGTCAAAGAAGACAGACATCAGAGGCTGTATATTGTGATTCCGTTTATATGAGATGTTGAGAATGTGTGTAGTTAAGTCCATCAAAAGTGTTTGCCGGGGCTGGGGGCGGGGACTGGGGAGTGACTGCTGCCGGGTGTGGGGTTTGCCTGTGGGGCAATGGAAGTGCTTTGGAACTAGACAGAAGTGGAGGCTGCACCGCCTTGCGAATGCACTAGGTAACACTATTCACTTTAAAGTGGTAAATTTAGGCTGGGTGCAGTGGCTTATGCCTGTAATCCCAGCACTTTGAGAGGCCAAGGCGGGTGGATCGCCTGAGCTCAGGGCTTCAAGACCAGCCTTGGGCAACATGGCGAAACCCTGTCTCTACCAAAAAGATACCCCCCAAAAATTAGCTGGGTGTGGTGGTGCACGCCTGTGGTCCCAGCTACTCTGGAGGCGGAGGTGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCAACCTGGGTGACAGAGTGAGACCCCATCTCCAAAAAAAAAAAAAAAAGTAAACGTATGTCCTGTGAATTTTACTTCAATAATTTTCTTAAAAAACAGCATCAACAAAAATGAACAGAAGAGGTGGTGGATCTGCAGAGCCCACAGCTCCCATCTTCCCTGTGCCACTTCATGAGTGTCACCCTCTCCTGGCAACTGTGCTGAGGGCTGGGGACGTGGCGGGGACCCTCTGCCCCCAGGCCCACCCTCAGGGAGCCTGTCACGGGGCGAGGGTCATTAAGCAAATAAAACTGCACATTACCGACCACGTCACATTATGATCCTGTTTCCAGTGTCCATAATCTCATTACACCCGAGTCCTCATTTGCTGGGCACTGTAAGCATCTAGAAAAGAATAGCTGTTTCTCGGGTTGATGCCAAGTTTCATTTACTCTGAAAGTATAAATTATGAGCATTGTAAGAAGGAGCGAGTGCACATGGCCTGATTTGTATACAGAGGTTAAAGCGTTGGGCAGGAGAGGTGTGCTTTTTGCCAGGCATGGCTTCCTCCTTTCTTCCCTGGGGGAGACTTTGCCACTTGACCTGGGGGAGCCCGTGTGTCACCATCACAGGCTGTGTTTGGGAGGTGCCCTGTGCACGCCGGGAGAAATGTACGAGGGCGCCAGCTCCTGGGGCTCTTGACCTGGCCTCACTTGTCTGGTTGAAAGCAAATGGGAAGCCTGGCATGGTGGCGCACGCCTGTAATCCCAGCGCTTTGAGAGGCTGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTTGCCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATCATCTGGGCGTAGTGGTGGGCATCAGTGATCCCAGCTACTCGGGAGGCTGAGGCAGGATAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATTACATCACTGCACTCCAGCCTGGGCGACAGACCGAGACTCCATCTCAAAAAAAAAAAAAGAAATTAATTGGGTCAGCAGCAATGACTGTCGGGGGACCCTCCTGATGGCTCCTCCACCCCGCTTCCCTGACTGCAGGCAGAAGGTGGTGGAGGGCAGCCTGACGCACCCCTTCGCCCTGACGCTCTCCGGGGACACTCTGTACTGGATAGACTGGCAGACCCGCTCCATCCATGCCTGCAACAAGCGCACTGGGGGGAAGAGGAAGGAGATCCTGAGTGCCCTCTACTCACCCATGGACATCCAGGTGCTGAGCCAGGAGCGGCAGCCTTTCTGTGAGTGCCGGCTGGGGCGCGGGGGCGAGGGTGCGGGGGCTGGGGGGAGCGGGGGCGCGGGGCAGGGGAGTGGGAGGATGCGGGGGCGTGGGGGTGCGCGGGCGTGGGTGGGGTGGGGGGGCAGGTGACCCCTCCCTGCAGAAGCCCATGCTCTGGGGGGCCCCCTCTCTAAAGGGGTACCTGCTGCAATGGAGGGAGGTGTGTGGCTGGCTGGGGGACACGGGCCTGCAGAGGACCCCTCTGCAGAGCTCATGGGGGCTATTTCAGGCTCAGCAGTGGCAAGGGGATTTCCAAGGAAGGTTGCCTCGTTTTCAAGGCCCAGAAGAAGTTGTCTGTGTGTGTGTGTATATGTATTTATATACACATACACGTATGTGTGTATATATATATATGGTTATTTATATATACATATATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTATTTTTAATAGAGATGAGAGATTTTGCCACGTTGCCCAGGCTTGTCTCAAACTCCTGGGCTCCAGTGATCCTCACACCTTGACTTCCCAAAGTGCTGGGGTCACAGGTATGAGCCACCATGCTTGGCCCTGCAAGTCGCGTATTTATCAATGAATAATCTGCCCAGAATCAGCAGTTCTCAGCCTGGGGGCCACGCTGGGTTGTGACAGAGGTCCCTGATGGGGAAATGCACCAGCTTCTGTGACAGTGGGGCTGCGGCTCTGGGGACAGTGGCCCACTCCCACAGGGACCAGGGATGGAGATTTCTGGCCAGGCCATTATGGAAGGTTTGGACTTTGAATTGAAATGTGGGGCCTAGGGGTGCCAGCTGTTCCCAGAGCAGGACACAGGAGGGTGGGGCTCTCTGGAGCTGTTTCCTGGTGAGAAAGTCGTGGTCACAAAACCCATCTACACTTGGGGCAGCATGAGGGAGGGAGAGGTTCATTTTGATGAGTTTGTTGTTCCAGTTATATCCGTATTTTGGGGCTGCTACACCCAGCTTTCCCCTGGTTTGAATGAGGTGCTGGAAGCATTTATCGAGTTCCGTTCAATTGCTGTTGGTCATAGAAGGGCTTGGGAGAGTGACAAGCTTGGCCATCCCAGCAAGAGGGACAGTGTTCCTATGGAAGCTGCTGGGTCCACACATAGCACAAAGACAAGACAAGCCTTTTGCCCAGGAGCCCATTGTCTCTGGGGTTCCCGTCACTACCACACAGGCAGGTCCTGACCCCGGCCATTGGAGCGTGGGGGGCAGCCTTTGCAGAGGGGTGTCCTTTGGGGGCTCCGAGGAGCTGGGGAGGGTGTTCTAGTCATAGGAGCTTGGTGGGAGGAAGCAGATGGGGAGATGTCACTCCATGGGCAGGTCACATCTGGGTGTGAGGGTGGCCAGGAAGGTCACGGCTGGTTTTGGGGAAATTGCAGGCCGTCTGGCCAGGCTGAGGGCCCCATGTGGACGGGCCAGCGATGAGGCAGGTGGAATGGTGCCAGCGGGGAGGTCCCTGATGCCACTTGAGGCCGATGTTTGGGCAGAGGGACACACTGGAGGCTGTCACGGGGGACGAGGCAGGATGTGACTCATTCAGAAACAAGTGACGGTCCTCTTCTGGAACCTTCTCTCACTCTGTCCTGGTTTTCTCAGTCCACACTCGCTGTGAGGAGGACAATGGCGGCTGCTCCCACCTGTGCCTGCTGTCCCCAAGCGAGCCTTTCTACACATGCGCCTGCCCCACGGGTGTGCAGCTGCAGGACAACGGCAGGACGTGTAAGGCAGGTGAGGCGGTGGGACGGGACGGGGCGGGCGGGCGGGGCGGGGCCTGGCGGGAATGGGTTGCGGCCGCCGGGGGTGCCCCAGAAGGAACCTCGGCAAACCCGTTCGAAATGATCCACTTGGCGGGTGTGGTGATTCAAGTCTGTGGTCCCAGCTACTCGGGAAG
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Task1_train_16164
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Here is a mutation in LRP5 (LDL receptor related protein 5) on Chromosome 11. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; not provided
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TTGTGACCTGGGCCCCTGTGCAGGGGCATGGCCACAGGATGCTGGGAGGGGTCTCTGACCCTGACCTTCTTGGCTCTGTGCATCCTTGAGACCAGAAAGGTCTGGAACAAATGAGTAGACGATGCCCTAACCTGGGGAGGGAGCCACATCCTGATCCCAGCAACCTCAGGAAGGATCTGTCAGGATTATGGGGCACCCTGGGGGCCCCAAGTCTGCATGGGTCTCCACTTGCAATTTCTGTAGGAAGCTCTGATAAATCCAAACTGGGGGTCCTAGGACACAGTCAGAAATGCTGATACCGTTGTGTGTGGAGCCTCGGGCCCTGGGGGTCAGGAGCATGTGGAGGGTGGGCCACGGGGGTTCAGAAGAGAATCCTGTAACCCCCCACCCCCCAAACTGAAGCCCACTTGAGGGCCATGGCTGAAAGGTTGGGGGGTCTCCGTGCGTCCTGTGGAGTGGGTGGTGAGGAGTCCTTGGGTTTGCACGCCTCTGGGCCTGAGCGGCGGGACCCCGTCCACAGCGGATCCCTGGGCCCTGTTGCTCAGATGCTCTCAGAGTGTTGCTGTGGCCACGGAGGGAGCCTGAGTTAAGCTTCTCTTGTGCCGGTTGTACGCTGTCAGGTCACACTGGTGAGTTAGGCAGGGCACAGATGCCCAGAGCAGAGGGAACTTTCCTTGGGGATTCAACACGTGCAAGTCTTAGGGGCTGGCAAATCCTGCCCTCAGCTAGAGAGGGGGCTTTTATTTGAGACCAGAATCACCTGAGCATCCTCCTGTCCCCAGCTGTGTCCAGCCTGTCTGCAGGGACATCCTGAGAGGACCAGGCTCTCCCCTCATCCACCTGCCTAAGTGCCACTCTGAACCCTGTCCACCTGTGCCGTGGAGGGGCGTGACCTCAAGCTGCTCAGCCAGCAGCAGGCTTGGCCCTGGGGGGCAGCAGAGACCCAGGTGGCTGTGGGGTGGGTGCTTCGTGGCGTGGTTCTGAAACTTCGTTGGAAGTGTGTGGACAGTGCCTTGCCTGTTCTCTGTGGGACCCTATTTAGAAACGAGGTCTGAGTTACTGGGGGTCATCACTGTGTTCTGATGGCCCAGCTGTGTGGAGGCCGCGGTGCAGCCCCATCCAAGGAGCCAGGGCCCTGGGTCTAGCCGTGACCAGAATGCATGCCCCGGAGGTGTTTCTCATCTCGCACCTGTGTTGCCTGGTGTGTCAAGTGGTCGTGAAACTCTGTGTTAGCTCTTGGTGTTCCTGAAAGTGCCCCCGGGTCTCAGGCCTCAGAACCAGGGTTTCCCTTCATCTCGGTGGCCTGGGAGCATCTGGGCAGTTGAGCAAAGAGGGCGATTCACTTGAAGGGTGTGTCTGGCCCTGCCTAGGAGCCCCCCGGCACGGTGCTGGGGCCTGAAGCCGCCCTCGGGTGGTGGAGAGGAGGGAGCGATGAAGTGGCGTCGAGCTGGGCAGGAAGGGTGAGCCCCTGCAAGGTGGGCATGCTGGGGACGCTGAGCAGCATGGCCAGCAGCTGGGTCTGCAGCCTGGTACCCGGCGGGACTTGTGGTTGGGGCTGGTTTGTGGCCAGGAGAGGGGCTGGCAGGAGACAAGGGGGACTGTGAGGCAGCTCCCACCCAGCAGCTGAAGCCCAATGGCCTGGCTGTGTGGCTCTCAGCTGCGTGCATAACCTCTCAGTGCTTCAGTTCTCTCATTTGTAAAATGAGGAAACAAACAGTGCCAGCCTCCCAGAGGTGTCATGAGGATGAACGAGTGACCATGTAGCATGGGCTGGGTGCGTGTCACCTAACATCACCAGCCTTTGCAAGGAGAGCCCTGGGGGCCTGGCTGAGTATTTCCCTTGCCCGGCCCACCCCAGGCCTAGACTTGTGCCTGCTGCAGGCCCTTGACCCCTGACCCCATTGCACCTGTCTCCACAGGAGCCGAGGAGGTGCTGCTGCTGGCCCGGCGGACGGACCTACGGAGGATCTCGCTGGACACGCCGGACTTCACCGACATCGTGCTGCAGGTGGACGACATCCGGCACGCCATTGCCATCGACTACGACCCGCTAGAGGGCTATGTCTACTGGACAGATGACGAGGTGCGGGCCATCCGCAGGGCGTACCTGGACGGGTCTGGGGCGCAGACGCTGGTCAACACCGAGATCAACGACCCCGATGGCATCGCGGTCGACTGGGTGGCCCGAAACCTCTACTGGACCGACACGGGCACGGACCGCATCGAGGTGACGCGCCTCAACGGCACCTCCCGCAAGATCCTGGTGTCGGAGGACCTGGACGAGCCCCGAGCCATCGCACTGCACCCCGTGATGGGGTAAGACGGGCGGGGGCTGGGGCCTGGAGCCAGGGCCAGGCCAAGCACAGGCGAGAGGGAGATTGACCTGGACCTGTCATTCTGGGACACTGTCTTGCATCAGAACCCGGAGGAGGGCTTGTTAAAACACCGGCAGCTGGGCCCCACCCCCAGAGCGGTGATTCAGGAGCTCCAGGGCGGGGCTGAAGACTTGGGTTTCTAACAAGCACCCCAGTGGTCCGGTGCTGCTGCTGGGTCCATGCGTAGAAAGCCCTGGAGACCTGGAGGGAGCCCTTTGTTCCCCTGGCTTCAGTTTCCTCATCTGTAGAATGGAACGGTCCATCTGGGTGATTTCCAGGATGACAGTAGTGACAGTAAGGGCAGCCTCTGTGACACTGACCACAGTACAGGCCAGGCCTCTTTTTTTCTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTACAACCTCTGCCTCCTGGGCTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACTGTGCTTGGCTAATGTTTGTATTTTTGGTAGAGATGGGGTTTCACCGTCTTGGCCAGGCTGGTCGCAAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGTCAGGCCAGGCCTCTTTTGAACACTTTGCACACCATGGGTCTTTTCATCCAGGGGGGTAGGTACAGTTGTACAGTTGAGGACACTGAAGCCCAGAGAGGCTCAGGGACTTGCCCAGGGTCACACAGCAGGATGTGGCAGGTGTGGGGCTGGGCCTGGCAGCGTGGCTCCAGCTTTCCAGCATAGAAATCTGTGAAAGCAGATAGTTTGTCGGTCGGTAGGGGAGACTTTCTGAGACCCGCCCCAGCGGCTCAGAGGGTAGTAGCCAGGGGCCTTCCTGGGGGCTCATAACCCAGAACACTGAATGGGAAAACCCTGATGGAGGAGGCGCAGTGGAGCTGTGGGTGCCGATGGGAAGTCCCAGAGGAGCTGGGAGGTCAGTAGCGGTGCTGCCCTCTGTGGAGCACTTAGTGGGCACCAGGTGTGTTTCCAGGTTCATGGCCCTGGGACCTGAAGCTCAGAAGGTGAAGTAACTTGCCCAGGGCACCCGTCGGGCAGCGGCGGGCAGAGGATTTGTGGGCTGTGGAGCCTGTGCTCGTGGCCCAGCCCTGGGGGTTGTGAGTGTGCTGGCCGGGGAGCTTTTCCTGCAAGTGGACTGGTGTCTAGGAGCCAGCATGTCAGGCAGCAGGCAGCGGGAGTGCAGCAGGCAGCGGGAGCACAGCAGGCAGAGGGCGGGGCTCGAGCAGCCATCCGTGGACCCTGGGGCACGGAGGCATGTGGGAGAGGGCTGCTCCATGGCAGTGGCTGAAGGGCTGGGTTGTGCCCCGAGGAGGGTGGATGAGGGTAAGAAGTGGGGTCCCCAGGGGCTTTAGCAAGAGGAGGCCCAGGAACTGGTTGCCAGCTACAGTGAAGGGAACACGGCCCTGAGGTCAGGAGCTTGGTCAAGTCACTGTCTACATGGGCCTCGGTGTCCTCATCTGTGAAAAAGGAAGGGATGGGGAAGCTGACTCCAAGGCCCCTCCTAGCCCTGGTTTCATGAGTCTGAGGATCCCAGGGACATGGGCTTGGCAGTCTGACCTGTGAGGTCGTGGGGTCCAGGGAGGGGCACCGAGCTGGAAGCGGGAGGCAGAGGGGCTGGCCGG
|
TTGTGACCTGGGCCCCTGTGCAGGGGCATGGCCACAGGATGCTGGGAGGGGTCTCTGACCCTGACCTTCTTGGCTCTGTGCATCCTTGAGACCAGAAAGGTCTGGAACAAATGAGTAGACGATGCCCTAACCTGGGGAGGGAGCCACATCCTGATCCCAGCAACCTCAGGAAGGATCTGTCAGGATTATGGGGCACCCTGGGGGCCCCAAGTCTGCATGGGTCTCCACTTGCAATTTCTGTAGGAAGCTCTGATAAATCCAAACTGGGGGTCCTAGGACACAGTCAGAAATGCTGATACCGTTGTGTGTGGAGCCTCGGGCCCTGGGGGTCAGGAGCATGTGGAGGGTGGGCCACGGGGGTTCAGAAGAGAATCCTGTAACCCCCCACCCCCCAAACTGAAGCCCACTTGAGGGCCATGGCTGAAAGGTTGGGGGGTCTCCGTGCGTCCTGTGGAGTGGGTGGTGAGGAGTCCTTGGGTTTGCACGCCTCTGGGCCTGAGCGGCGGGACCCCGTCCACAGCGGATCCCTGGGCCCTGTTGCTCAGATGCTCTCAGAGTGTTGCTGTGGCCACGGAGGGAGCCTGAGTTAAGCTTCTCTTGTGCCGGTTGTACGCTGTCAGGTCACACTGGTGAGTTAGGCAGGGCACAGATGCCCAGAGCAGAGGGAACTTTCCTTGGGGATTCAACACGTGCAAGTCTTAGGGGCTGGCAAATCCTGCCCTCAGCTAGAGAGGGGGCTTTTATTTGAGACCAGAATCACCTGAGCATCCTCCTGTCCCCAGCTGTGTCCAGCCTGTCTGCAGGGACATCCTGAGAGGACCAGGCTCTCCCCTCATCCACCTGCCTAAGTGCCACTCTGAACCCTGTCCACCTGTGCCGTGGAGGGGCGTGACCTCAAGCTGCTCAGCCAGCAGCAGGCTTGGCCCTGGGGGGCAGCAGAGACCCAGGTGGCTGTGGGGTGGGTGCTTCGTGGCGTGGTTCTGAAACTTCGTTGGAAGTGTGTGGACAGTGCCTTGCCTGTTCTCTGTGGGACCCTATTTAGAAACGAGGTCTGAGTTACTGGGGGTCATCACTGTGTTCTGATGGCCCAGCTGTGTGGAGGCCGCGGTGCAGCCCCATCCAAGGAGCCAGGGCCCTGGGTCTAGCCGTGACCAGAATGCATGCCCCGGAGGTGTTTCTCATCTCGCACCTGTGTTGCCTGGTGTGTCAAGTGGTCGTGAAACTCTGTGTTAGCTCTTGGTGTTCCTGAAAGTGCCCCCGGGTCTCAGGCCTCAGAACCAGGGTTTCCCTTCATCTCGGTGGCCTGGGAGCATCTGGGCAGTTGAGCAAAGAGGGCGATTCACTTGAAGGGTGTGTCTGGCCCTGCCTAGGAGCCCCCCGGCACGGTGCTGGGGCCTGAAGCCGCCCTCGGGTGGTGGAGAGGAGGGAGCGATGAAGTGGCGTCGAGCTGGGCAGGAAGGGTGAGCCCCTGCAAGGTGGGCATGCTGGGGACGCTGAGCAGCATGGCCAGCAGCTGGGTCTGCAGCCTGGTACCCGGCGGGACTTGTGGTTGGGGCTGGTTTGTGGCCAGGAGAGGGGCTGGCAGGAGACAAGGGGGACTGTGAGGCAGCTCCCACCCAGCAGCTGAAGCCCAATGGCCTGGCTGTGTGGCTCTCAGCTGCGTGCATAACCTCTCAGTGCTTCAGTTCTCTCATTTGTAAAATGAGGAAACAAACAGTGCCAGCCTCCCAGAGGTGTCATGAGGATGAACGAGTGACCATGTAGCATGGGCTGGGTGCGTGTCACCTAACATCACCAGCCTTTGCAAGGAGAGCCCTGGGGGCCTGGCTGAGTATTTCCCTTGCCCGGCCCACCCCAGGCCTAGACTTGTGCCTGCTGCAGGCCCTTGACCCCTGACCCCATTGCACCTGTCTCCACAGGAGCCGAGGAGGTGCTGCTGCTGGCCCGGCGGACGGACCTACGGAGGATCTCGCTGGACACGCCGGACTTCACCGACATCGTGCTGCAGGTGGACGACATCCGGCACGCCATTGCCATCGACTACGACCTGCTAGAGGGCTATGTCTACTGGACAGATGACGAGGTGCGGGCCATCCGCAGGGCGTACCTGGACGGGTCTGGGGCGCAGACGCTGGTCAACACCGAGATCAACGACCCCGATGGCATCGCGGTCGACTGGGTGGCCCGAAACCTCTACTGGACCGACACGGGCACGGACCGCATCGAGGTGACGCGCCTCAACGGCACCTCCCGCAAGATCCTGGTGTCGGAGGACCTGGACGAGCCCCGAGCCATCGCACTGCACCCCGTGATGGGGTAAGACGGGCGGGGGCTGGGGCCTGGAGCCAGGGCCAGGCCAAGCACAGGCGAGAGGGAGATTGACCTGGACCTGTCATTCTGGGACACTGTCTTGCATCAGAACCCGGAGGAGGGCTTGTTAAAACACCGGCAGCTGGGCCCCACCCCCAGAGCGGTGATTCAGGAGCTCCAGGGCGGGGCTGAAGACTTGGGTTTCTAACAAGCACCCCAGTGGTCCGGTGCTGCTGCTGGGTCCATGCGTAGAAAGCCCTGGAGACCTGGAGGGAGCCCTTTGTTCCCCTGGCTTCAGTTTCCTCATCTGTAGAATGGAACGGTCCATCTGGGTGATTTCCAGGATGACAGTAGTGACAGTAAGGGCAGCCTCTGTGACACTGACCACAGTACAGGCCAGGCCTCTTTTTTTCTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTACAACCTCTGCCTCCTGGGCTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACTGTGCTTGGCTAATGTTTGTATTTTTGGTAGAGATGGGGTTTCACCGTCTTGGCCAGGCTGGTCGCAAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGTCAGGCCAGGCCTCTTTTGAACACTTTGCACACCATGGGTCTTTTCATCCAGGGGGGTAGGTACAGTTGTACAGTTGAGGACACTGAAGCCCAGAGAGGCTCAGGGACTTGCCCAGGGTCACACAGCAGGATGTGGCAGGTGTGGGGCTGGGCCTGGCAGCGTGGCTCCAGCTTTCCAGCATAGAAATCTGTGAAAGCAGATAGTTTGTCGGTCGGTAGGGGAGACTTTCTGAGACCCGCCCCAGCGGCTCAGAGGGTAGTAGCCAGGGGCCTTCCTGGGGGCTCATAACCCAGAACACTGAATGGGAAAACCCTGATGGAGGAGGCGCAGTGGAGCTGTGGGTGCCGATGGGAAGTCCCAGAGGAGCTGGGAGGTCAGTAGCGGTGCTGCCCTCTGTGGAGCACTTAGTGGGCACCAGGTGTGTTTCCAGGTTCATGGCCCTGGGACCTGAAGCTCAGAAGGTGAAGTAACTTGCCCAGGGCACCCGTCGGGCAGCGGCGGGCAGAGGATTTGTGGGCTGTGGAGCCTGTGCTCGTGGCCCAGCCCTGGGGGTTGTGAGTGTGCTGGCCGGGGAGCTTTTCCTGCAAGTGGACTGGTGTCTAGGAGCCAGCATGTCAGGCAGCAGGCAGCGGGAGTGCAGCAGGCAGCGGGAGCACAGCAGGCAGAGGGCGGGGCTCGAGCAGCCATCCGTGGACCCTGGGGCACGGAGGCATGTGGGAGAGGGCTGCTCCATGGCAGTGGCTGAAGGGCTGGGTTGTGCCCCGAGGAGGGTGGATGAGGGTAAGAAGTGGGGTCCCCAGGGGCTTTAGCAAGAGGAGGCCCAGGAACTGGTTGCCAGCTACAGTGAAGGGAACACGGCCCTGAGGTCAGGAGCTTGGTCAAGTCACTGTCTACATGGGCCTCGGTGTCCTCATCTGTGAAAAAGGAAGGGATGGGGAAGCTGACTCCAAGGCCCCTCCTAGCCCTGGTTTCATGAGTCTGAGGATCCCAGGGACATGGGCTTGGCAGTCTGACCTGTGAGGTCGTGGGGTCCAGGGAGGGGCACCGAGCTGGAAGCGGGAGGCAGAGGGGCTGGCCGG
|
Task1_train_16165
|
A mutation on Chromosome 11 affecting LRP5 (LDL receptor related protein 5) has been found. Is it harmful or harmless? What disease, if any, does it cause?
|
Pathogenic; not provided
|
CTGACCCTGACCTTCTTGGCTCTGTGCATCCTTGAGACCAGAAAGGTCTGGAACAAATGAGTAGACGATGCCCTAACCTGGGGAGGGAGCCACATCCTGATCCCAGCAACCTCAGGAAGGATCTGTCAGGATTATGGGGCACCCTGGGGGCCCCAAGTCTGCATGGGTCTCCACTTGCAATTTCTGTAGGAAGCTCTGATAAATCCAAACTGGGGGTCCTAGGACACAGTCAGAAATGCTGATACCGTTGTGTGTGGAGCCTCGGGCCCTGGGGGTCAGGAGCATGTGGAGGGTGGGCCACGGGGGTTCAGAAGAGAATCCTGTAACCCCCCACCCCCCAAACTGAAGCCCACTTGAGGGCCATGGCTGAAAGGTTGGGGGGTCTCCGTGCGTCCTGTGGAGTGGGTGGTGAGGAGTCCTTGGGTTTGCACGCCTCTGGGCCTGAGCGGCGGGACCCCGTCCACAGCGGATCCCTGGGCCCTGTTGCTCAGATGCTCTCAGAGTGTTGCTGTGGCCACGGAGGGAGCCTGAGTTAAGCTTCTCTTGTGCCGGTTGTACGCTGTCAGGTCACACTGGTGAGTTAGGCAGGGCACAGATGCCCAGAGCAGAGGGAACTTTCCTTGGGGATTCAACACGTGCAAGTCTTAGGGGCTGGCAAATCCTGCCCTCAGCTAGAGAGGGGGCTTTTATTTGAGACCAGAATCACCTGAGCATCCTCCTGTCCCCAGCTGTGTCCAGCCTGTCTGCAGGGACATCCTGAGAGGACCAGGCTCTCCCCTCATCCACCTGCCTAAGTGCCACTCTGAACCCTGTCCACCTGTGCCGTGGAGGGGCGTGACCTCAAGCTGCTCAGCCAGCAGCAGGCTTGGCCCTGGGGGGCAGCAGAGACCCAGGTGGCTGTGGGGTGGGTGCTTCGTGGCGTGGTTCTGAAACTTCGTTGGAAGTGTGTGGACAGTGCCTTGCCTGTTCTCTGTGGGACCCTATTTAGAAACGAGGTCTGAGTTACTGGGGGTCATCACTGTGTTCTGATGGCCCAGCTGTGTGGAGGCCGCGGTGCAGCCCCATCCAAGGAGCCAGGGCCCTGGGTCTAGCCGTGACCAGAATGCATGCCCCGGAGGTGTTTCTCATCTCGCACCTGTGTTGCCTGGTGTGTCAAGTGGTCGTGAAACTCTGTGTTAGCTCTTGGTGTTCCTGAAAGTGCCCCCGGGTCTCAGGCCTCAGAACCAGGGTTTCCCTTCATCTCGGTGGCCTGGGAGCATCTGGGCAGTTGAGCAAAGAGGGCGATTCACTTGAAGGGTGTGTCTGGCCCTGCCTAGGAGCCCCCCGGCACGGTGCTGGGGCCTGAAGCCGCCCTCGGGTGGTGGAGAGGAGGGAGCGATGAAGTGGCGTCGAGCTGGGCAGGAAGGGTGAGCCCCTGCAAGGTGGGCATGCTGGGGACGCTGAGCAGCATGGCCAGCAGCTGGGTCTGCAGCCTGGTACCCGGCGGGACTTGTGGTTGGGGCTGGTTTGTGGCCAGGAGAGGGGCTGGCAGGAGACAAGGGGGACTGTGAGGCAGCTCCCACCCAGCAGCTGAAGCCCAATGGCCTGGCTGTGTGGCTCTCAGCTGCGTGCATAACCTCTCAGTGCTTCAGTTCTCTCATTTGTAAAATGAGGAAACAAACAGTGCCAGCCTCCCAGAGGTGTCATGAGGATGAACGAGTGACCATGTAGCATGGGCTGGGTGCGTGTCACCTAACATCACCAGCCTTTGCAAGGAGAGCCCTGGGGGCCTGGCTGAGTATTTCCCTTGCCCGGCCCACCCCAGGCCTAGACTTGTGCCTGCTGCAGGCCCTTGACCCCTGACCCCATTGCACCTGTCTCCACAGGAGCCGAGGAGGTGCTGCTGCTGGCCCGGCGGACGGACCTACGGAGGATCTCGCTGGACACGCCGGACTTCACCGACATCGTGCTGCAGGTGGACGACATCCGGCACGCCATTGCCATCGACTACGACCCGCTAGAGGGCTATGTCTACTGGACAGATGACGAGGTGCGGGCCATCCGCAGGGCGTACCTGGACGGGTCTGGGGCGCAGACGCTGGTCAACACCGAGATCAACGACCCCGATGGCATCGCGGTCGACTGGGTGGCCCGAAACCTCTACTGGACCGACACGGGCACGGACCGCATCGAGGTGACGCGCCTCAACGGCACCTCCCGCAAGATCCTGGTGTCGGAGGACCTGGACGAGCCCCGAGCCATCGCACTGCACCCCGTGATGGGGTAAGACGGGCGGGGGCTGGGGCCTGGAGCCAGGGCCAGGCCAAGCACAGGCGAGAGGGAGATTGACCTGGACCTGTCATTCTGGGACACTGTCTTGCATCAGAACCCGGAGGAGGGCTTGTTAAAACACCGGCAGCTGGGCCCCACCCCCAGAGCGGTGATTCAGGAGCTCCAGGGCGGGGCTGAAGACTTGGGTTTCTAACAAGCACCCCAGTGGTCCGGTGCTGCTGCTGGGTCCATGCGTAGAAAGCCCTGGAGACCTGGAGGGAGCCCTTTGTTCCCCTGGCTTCAGTTTCCTCATCTGTAGAATGGAACGGTCCATCTGGGTGATTTCCAGGATGACAGTAGTGACAGTAAGGGCAGCCTCTGTGACACTGACCACAGTACAGGCCAGGCCTCTTTTTTTCTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTACAACCTCTGCCTCCTGGGCTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACTGTGCTTGGCTAATGTTTGTATTTTTGGTAGAGATGGGGTTTCACCGTCTTGGCCAGGCTGGTCGCAAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGTCAGGCCAGGCCTCTTTTGAACACTTTGCACACCATGGGTCTTTTCATCCAGGGGGGTAGGTACAGTTGTACAGTTGAGGACACTGAAGCCCAGAGAGGCTCAGGGACTTGCCCAGGGTCACACAGCAGGATGTGGCAGGTGTGGGGCTGGGCCTGGCAGCGTGGCTCCAGCTTTCCAGCATAGAAATCTGTGAAAGCAGATAGTTTGTCGGTCGGTAGGGGAGACTTTCTGAGACCCGCCCCAGCGGCTCAGAGGGTAGTAGCCAGGGGCCTTCCTGGGGGCTCATAACCCAGAACACTGAATGGGAAAACCCTGATGGAGGAGGCGCAGTGGAGCTGTGGGTGCCGATGGGAAGTCCCAGAGGAGCTGGGAGGTCAGTAGCGGTGCTGCCCTCTGTGGAGCACTTAGTGGGCACCAGGTGTGTTTCCAGGTTCATGGCCCTGGGACCTGAAGCTCAGAAGGTGAAGTAACTTGCCCAGGGCACCCGTCGGGCAGCGGCGGGCAGAGGATTTGTGGGCTGTGGAGCCTGTGCTCGTGGCCCAGCCCTGGGGGTTGTGAGTGTGCTGGCCGGGGAGCTTTTCCTGCAAGTGGACTGGTGTCTAGGAGCCAGCATGTCAGGCAGCAGGCAGCGGGAGTGCAGCAGGCAGCGGGAGCACAGCAGGCAGAGGGCGGGGCTCGAGCAGCCATCCGTGGACCCTGGGGCACGGAGGCATGTGGGAGAGGGCTGCTCCATGGCAGTGGCTGAAGGGCTGGGTTGTGCCCCGAGGAGGGTGGATGAGGGTAAGAAGTGGGGTCCCCAGGGGCTTTAGCAAGAGGAGGCCCAGGAACTGGTTGCCAGCTACAGTGAAGGGAACACGGCCCTGAGGTCAGGAGCTTGGTCAAGTCACTGTCTACATGGGCCTCGGTGTCCTCATCTGTGAAAAAGGAAGGGATGGGGAAGCTGACTCCAAGGCCCCTCCTAGCCCTGGTTTCATGAGTCTGAGGATCCCAGGGACATGGGCTTGGCAGTCTGACCTGTGAGGTCGTGGGGTCCAGGGAGGGGCACCGAGCTGGAAGCGGGAGGCAGAGGGGCTGGCCGGCTGGGTCAGACACAGCTGAAGCAGAGGCTGTGACTTGGGGCCTCAGAACCTTCA
|
CTGACCCTGACCTTCTTGGCTCTGTGCATCCTTGAGACCAGAAAGGTCTGGAACAAATGAGTAGACGATGCCCTAACCTGGGGAGGGAGCCACATCCTGATCCCAGCAACCTCAGGAAGGATCTGTCAGGATTATGGGGCACCCTGGGGGCCCCAAGTCTGCATGGGTCTCCACTTGCAATTTCTGTAGGAAGCTCTGATAAATCCAAACTGGGGGTCCTAGGACACAGTCAGAAATGCTGATACCGTTGTGTGTGGAGCCTCGGGCCCTGGGGGTCAGGAGCATGTGGAGGGTGGGCCACGGGGGTTCAGAAGAGAATCCTGTAACCCCCCACCCCCCAAACTGAAGCCCACTTGAGGGCCATGGCTGAAAGGTTGGGGGGTCTCCGTGCGTCCTGTGGAGTGGGTGGTGAGGAGTCCTTGGGTTTGCACGCCTCTGGGCCTGAGCGGCGGGACCCCGTCCACAGCGGATCCCTGGGCCCTGTTGCTCAGATGCTCTCAGAGTGTTGCTGTGGCCACGGAGGGAGCCTGAGTTAAGCTTCTCTTGTGCCGGTTGTACGCTGTCAGGTCACACTGGTGAGTTAGGCAGGGCACAGATGCCCAGAGCAGAGGGAACTTTCCTTGGGGATTCAACACGTGCAAGTCTTAGGGGCTGGCAAATCCTGCCCTCAGCTAGAGAGGGGGCTTTTATTTGAGACCAGAATCACCTGAGCATCCTCCTGTCCCCAGCTGTGTCCAGCCTGTCTGCAGGGACATCCTGAGAGGACCAGGCTCTCCCCTCATCCACCTGCCTAAGTGCCACTCTGAACCCTGTCCACCTGTGCCGTGGAGGGGCGTGACCTCAAGCTGCTCAGCCAGCAGCAGGCTTGGCCCTGGGGGGCAGCAGAGACCCAGGTGGCTGTGGGGTGGGTGCTTCGTGGCGTGGTTCTGAAACTTCGTTGGAAGTGTGTGGACAGTGCCTTGCCTGTTCTCTGTGGGACCCTATTTAGAAACGAGGTCTGAGTTACTGGGGGTCATCACTGTGTTCTGATGGCCCAGCTGTGTGGAGGCCGCGGTGCAGCCCCATCCAAGGAGCCAGGGCCCTGGGTCTAGCCGTGACCAGAATGCATGCCCCGGAGGTGTTTCTCATCTCGCACCTGTGTTGCCTGGTGTGTCAAGTGGTCGTGAAACTCTGTGTTAGCTCTTGGTGTTCCTGAAAGTGCCCCCGGGTCTCAGGCCTCAGAACCAGGGTTTCCCTTCATCTCGGTGGCCTGGGAGCATCTGGGCAGTTGAGCAAAGAGGGCGATTCACTTGAAGGGTGTGTCTGGCCCTGCCTAGGAGCCCCCCGGCACGGTGCTGGGGCCTGAAGCCGCCCTCGGGTGGTGGAGAGGAGGGAGCGATGAAGTGGCGTCGAGCTGGGCAGGAAGGGTGAGCCCCTGCAAGGTGGGCATGCTGGGGACGCTGAGCAGCATGGCCAGCAGCTGGGTCTGCAGCCTGGTACCCGGCGGGACTTGTGGTTGGGGCTGGTTTGTGGCCAGGAGAGGGGCTGGCAGGAGACAAGGGGGACTGTGAGGCAGCTCCCACCCAGCAGCTGAAGCCCAATGGCCTGGCTGTGTGGCTCTCAGCTGCGTGCATAACCTCTCAGTGCTTCAGTTCTCTCATTTGTAAAATGAGGAAACAAACAGTGCCAGCCTCCCAGAGGTGTCATGAGGATGAACGAGTGACCATGTAGCATGGGCTGGGTGCGTGTCACCTAACATCACCAGCCTTTGCAAGGAGAGCCCTGGGGGCCTGGCTGAGTATTTCCCTTGCCCGGCCCACCCCAGGCCTAGACTTGTGCCTGCTGCAGGCCCTTGACCCCTGACCCCATTGCACCTGTCTCCACAGGAGCCGAGGAGGTGCTGCTGCTGGCCCGGCGGACGGACCTACGGAGGATCTCGCTGGACACGCCGGACTTCACCGACATCGTGCTGCAGGTGGACGACATCCGGCACGCCATTGCCATCGACTACGACCCGCTAGAGGGCTATGTCTACTGGACAGATGACGAGGTGCGGGCCATCCGCAGGGAGTACCTGGACGGGTCTGGGGCGCAGACGCTGGTCAACACCGAGATCAACGACCCCGATGGCATCGCGGTCGACTGGGTGGCCCGAAACCTCTACTGGACCGACACGGGCACGGACCGCATCGAGGTGACGCGCCTCAACGGCACCTCCCGCAAGATCCTGGTGTCGGAGGACCTGGACGAGCCCCGAGCCATCGCACTGCACCCCGTGATGGGGTAAGACGGGCGGGGGCTGGGGCCTGGAGCCAGGGCCAGGCCAAGCACAGGCGAGAGGGAGATTGACCTGGACCTGTCATTCTGGGACACTGTCTTGCATCAGAACCCGGAGGAGGGCTTGTTAAAACACCGGCAGCTGGGCCCCACCCCCAGAGCGGTGATTCAGGAGCTCCAGGGCGGGGCTGAAGACTTGGGTTTCTAACAAGCACCCCAGTGGTCCGGTGCTGCTGCTGGGTCCATGCGTAGAAAGCCCTGGAGACCTGGAGGGAGCCCTTTGTTCCCCTGGCTTCAGTTTCCTCATCTGTAGAATGGAACGGTCCATCTGGGTGATTTCCAGGATGACAGTAGTGACAGTAAGGGCAGCCTCTGTGACACTGACCACAGTACAGGCCAGGCCTCTTTTTTTCTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTACAACCTCTGCCTCCTGGGCTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACTGTGCTTGGCTAATGTTTGTATTTTTGGTAGAGATGGGGTTTCACCGTCTTGGCCAGGCTGGTCGCAAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGTCAGGCCAGGCCTCTTTTGAACACTTTGCACACCATGGGTCTTTTCATCCAGGGGGGTAGGTACAGTTGTACAGTTGAGGACACTGAAGCCCAGAGAGGCTCAGGGACTTGCCCAGGGTCACACAGCAGGATGTGGCAGGTGTGGGGCTGGGCCTGGCAGCGTGGCTCCAGCTTTCCAGCATAGAAATCTGTGAAAGCAGATAGTTTGTCGGTCGGTAGGGGAGACTTTCTGAGACCCGCCCCAGCGGCTCAGAGGGTAGTAGCCAGGGGCCTTCCTGGGGGCTCATAACCCAGAACACTGAATGGGAAAACCCTGATGGAGGAGGCGCAGTGGAGCTGTGGGTGCCGATGGGAAGTCCCAGAGGAGCTGGGAGGTCAGTAGCGGTGCTGCCCTCTGTGGAGCACTTAGTGGGCACCAGGTGTGTTTCCAGGTTCATGGCCCTGGGACCTGAAGCTCAGAAGGTGAAGTAACTTGCCCAGGGCACCCGTCGGGCAGCGGCGGGCAGAGGATTTGTGGGCTGTGGAGCCTGTGCTCGTGGCCCAGCCCTGGGGGTTGTGAGTGTGCTGGCCGGGGAGCTTTTCCTGCAAGTGGACTGGTGTCTAGGAGCCAGCATGTCAGGCAGCAGGCAGCGGGAGTGCAGCAGGCAGCGGGAGCACAGCAGGCAGAGGGCGGGGCTCGAGCAGCCATCCGTGGACCCTGGGGCACGGAGGCATGTGGGAGAGGGCTGCTCCATGGCAGTGGCTGAAGGGCTGGGTTGTGCCCCGAGGAGGGTGGATGAGGGTAAGAAGTGGGGTCCCCAGGGGCTTTAGCAAGAGGAGGCCCAGGAACTGGTTGCCAGCTACAGTGAAGGGAACACGGCCCTGAGGTCAGGAGCTTGGTCAAGTCACTGTCTACATGGGCCTCGGTGTCCTCATCTGTGAAAAAGGAAGGGATGGGGAAGCTGACTCCAAGGCCCCTCCTAGCCCTGGTTTCATGAGTCTGAGGATCCCAGGGACATGGGCTTGGCAGTCTGACCTGTGAGGTCGTGGGGTCCAGGGAGGGGCACCGAGCTGGAAGCGGGAGGCAGAGGGGCTGGCCGGCTGGGTCAGACACAGCTGAAGCAGAGGCTGTGACTTGGGGCCTCAGAACCTTCA
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Task1_train_16166
|
Gene LRP5 (LDL receptor related protein 5) on Chromosome 11 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
|
Pathogenic; Bone mineral density quantitative trait locus 1
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CATCCTTGAGACCAGAAAGGTCTGGAACAAATGAGTAGACGATGCCCTAACCTGGGGAGGGAGCCACATCCTGATCCCAGCAACCTCAGGAAGGATCTGTCAGGATTATGGGGCACCCTGGGGGCCCCAAGTCTGCATGGGTCTCCACTTGCAATTTCTGTAGGAAGCTCTGATAAATCCAAACTGGGGGTCCTAGGACACAGTCAGAAATGCTGATACCGTTGTGTGTGGAGCCTCGGGCCCTGGGGGTCAGGAGCATGTGGAGGGTGGGCCACGGGGGTTCAGAAGAGAATCCTGTAACCCCCCACCCCCCAAACTGAAGCCCACTTGAGGGCCATGGCTGAAAGGTTGGGGGGTCTCCGTGCGTCCTGTGGAGTGGGTGGTGAGGAGTCCTTGGGTTTGCACGCCTCTGGGCCTGAGCGGCGGGACCCCGTCCACAGCGGATCCCTGGGCCCTGTTGCTCAGATGCTCTCAGAGTGTTGCTGTGGCCACGGAGGGAGCCTGAGTTAAGCTTCTCTTGTGCCGGTTGTACGCTGTCAGGTCACACTGGTGAGTTAGGCAGGGCACAGATGCCCAGAGCAGAGGGAACTTTCCTTGGGGATTCAACACGTGCAAGTCTTAGGGGCTGGCAAATCCTGCCCTCAGCTAGAGAGGGGGCTTTTATTTGAGACCAGAATCACCTGAGCATCCTCCTGTCCCCAGCTGTGTCCAGCCTGTCTGCAGGGACATCCTGAGAGGACCAGGCTCTCCCCTCATCCACCTGCCTAAGTGCCACTCTGAACCCTGTCCACCTGTGCCGTGGAGGGGCGTGACCTCAAGCTGCTCAGCCAGCAGCAGGCTTGGCCCTGGGGGGCAGCAGAGACCCAGGTGGCTGTGGGGTGGGTGCTTCGTGGCGTGGTTCTGAAACTTCGTTGGAAGTGTGTGGACAGTGCCTTGCCTGTTCTCTGTGGGACCCTATTTAGAAACGAGGTCTGAGTTACTGGGGGTCATCACTGTGTTCTGATGGCCCAGCTGTGTGGAGGCCGCGGTGCAGCCCCATCCAAGGAGCCAGGGCCCTGGGTCTAGCCGTGACCAGAATGCATGCCCCGGAGGTGTTTCTCATCTCGCACCTGTGTTGCCTGGTGTGTCAAGTGGTCGTGAAACTCTGTGTTAGCTCTTGGTGTTCCTGAAAGTGCCCCCGGGTCTCAGGCCTCAGAACCAGGGTTTCCCTTCATCTCGGTGGCCTGGGAGCATCTGGGCAGTTGAGCAAAGAGGGCGATTCACTTGAAGGGTGTGTCTGGCCCTGCCTAGGAGCCCCCCGGCACGGTGCTGGGGCCTGAAGCCGCCCTCGGGTGGTGGAGAGGAGGGAGCGATGAAGTGGCGTCGAGCTGGGCAGGAAGGGTGAGCCCCTGCAAGGTGGGCATGCTGGGGACGCTGAGCAGCATGGCCAGCAGCTGGGTCTGCAGCCTGGTACCCGGCGGGACTTGTGGTTGGGGCTGGTTTGTGGCCAGGAGAGGGGCTGGCAGGAGACAAGGGGGACTGTGAGGCAGCTCCCACCCAGCAGCTGAAGCCCAATGGCCTGGCTGTGTGGCTCTCAGCTGCGTGCATAACCTCTCAGTGCTTCAGTTCTCTCATTTGTAAAATGAGGAAACAAACAGTGCCAGCCTCCCAGAGGTGTCATGAGGATGAACGAGTGACCATGTAGCATGGGCTGGGTGCGTGTCACCTAACATCACCAGCCTTTGCAAGGAGAGCCCTGGGGGCCTGGCTGAGTATTTCCCTTGCCCGGCCCACCCCAGGCCTAGACTTGTGCCTGCTGCAGGCCCTTGACCCCTGACCCCATTGCACCTGTCTCCACAGGAGCCGAGGAGGTGCTGCTGCTGGCCCGGCGGACGGACCTACGGAGGATCTCGCTGGACACGCCGGACTTCACCGACATCGTGCTGCAGGTGGACGACATCCGGCACGCCATTGCCATCGACTACGACCCGCTAGAGGGCTATGTCTACTGGACAGATGACGAGGTGCGGGCCATCCGCAGGGCGTACCTGGACGGGTCTGGGGCGCAGACGCTGGTCAACACCGAGATCAACGACCCCGATGGCATCGCGGTCGACTGGGTGGCCCGAAACCTCTACTGGACCGACACGGGCACGGACCGCATCGAGGTGACGCGCCTCAACGGCACCTCCCGCAAGATCCTGGTGTCGGAGGACCTGGACGAGCCCCGAGCCATCGCACTGCACCCCGTGATGGGGTAAGACGGGCGGGGGCTGGGGCCTGGAGCCAGGGCCAGGCCAAGCACAGGCGAGAGGGAGATTGACCTGGACCTGTCATTCTGGGACACTGTCTTGCATCAGAACCCGGAGGAGGGCTTGTTAAAACACCGGCAGCTGGGCCCCACCCCCAGAGCGGTGATTCAGGAGCTCCAGGGCGGGGCTGAAGACTTGGGTTTCTAACAAGCACCCCAGTGGTCCGGTGCTGCTGCTGGGTCCATGCGTAGAAAGCCCTGGAGACCTGGAGGGAGCCCTTTGTTCCCCTGGCTTCAGTTTCCTCATCTGTAGAATGGAACGGTCCATCTGGGTGATTTCCAGGATGACAGTAGTGACAGTAAGGGCAGCCTCTGTGACACTGACCACAGTACAGGCCAGGCCTCTTTTTTTCTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTACAACCTCTGCCTCCTGGGCTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACTGTGCTTGGCTAATGTTTGTATTTTTGGTAGAGATGGGGTTTCACCGTCTTGGCCAGGCTGGTCGCAAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGTCAGGCCAGGCCTCTTTTGAACACTTTGCACACCATGGGTCTTTTCATCCAGGGGGGTAGGTACAGTTGTACAGTTGAGGACACTGAAGCCCAGAGAGGCTCAGGGACTTGCCCAGGGTCACACAGCAGGATGTGGCAGGTGTGGGGCTGGGCCTGGCAGCGTGGCTCCAGCTTTCCAGCATAGAAATCTGTGAAAGCAGATAGTTTGTCGGTCGGTAGGGGAGACTTTCTGAGACCCGCCCCAGCGGCTCAGAGGGTAGTAGCCAGGGGCCTTCCTGGGGGCTCATAACCCAGAACACTGAATGGGAAAACCCTGATGGAGGAGGCGCAGTGGAGCTGTGGGTGCCGATGGGAAGTCCCAGAGGAGCTGGGAGGTCAGTAGCGGTGCTGCCCTCTGTGGAGCACTTAGTGGGCACCAGGTGTGTTTCCAGGTTCATGGCCCTGGGACCTGAAGCTCAGAAGGTGAAGTAACTTGCCCAGGGCACCCGTCGGGCAGCGGCGGGCAGAGGATTTGTGGGCTGTGGAGCCTGTGCTCGTGGCCCAGCCCTGGGGGTTGTGAGTGTGCTGGCCGGGGAGCTTTTCCTGCAAGTGGACTGGTGTCTAGGAGCCAGCATGTCAGGCAGCAGGCAGCGGGAGTGCAGCAGGCAGCGGGAGCACAGCAGGCAGAGGGCGGGGCTCGAGCAGCCATCCGTGGACCCTGGGGCACGGAGGCATGTGGGAGAGGGCTGCTCCATGGCAGTGGCTGAAGGGCTGGGTTGTGCCCCGAGGAGGGTGGATGAGGGTAAGAAGTGGGGTCCCCAGGGGCTTTAGCAAGAGGAGGCCCAGGAACTGGTTGCCAGCTACAGTGAAGGGAACACGGCCCTGAGGTCAGGAGCTTGGTCAAGTCACTGTCTACATGGGCCTCGGTGTCCTCATCTGTGAAAAAGGAAGGGATGGGGAAGCTGACTCCAAGGCCCCTCCTAGCCCTGGTTTCATGAGTCTGAGGATCCCAGGGACATGGGCTTGGCAGTCTGACCTGTGAGGTCGTGGGGTCCAGGGAGGGGCACCGAGCTGGAAGCGGGAGGCAGAGGGGCTGGCCGGCTGGGTCAGACACAGCTGAAGCAGAGGCTGTGACTTGGGGCCTCAGAACCTTCACCCCTGAGCTGCCACCCCAGGATCTG
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CATCCTTGAGACCAGAAAGGTCTGGAACAAATGAGTAGACGATGCCCTAACCTGGGGAGGGAGCCACATCCTGATCCCAGCAACCTCAGGAAGGATCTGTCAGGATTATGGGGCACCCTGGGGGCCCCAAGTCTGCATGGGTCTCCACTTGCAATTTCTGTAGGAAGCTCTGATAAATCCAAACTGGGGGTCCTAGGACACAGTCAGAAATGCTGATACCGTTGTGTGTGGAGCCTCGGGCCCTGGGGGTCAGGAGCATGTGGAGGGTGGGCCACGGGGGTTCAGAAGAGAATCCTGTAACCCCCCACCCCCCAAACTGAAGCCCACTTGAGGGCCATGGCTGAAAGGTTGGGGGGTCTCCGTGCGTCCTGTGGAGTGGGTGGTGAGGAGTCCTTGGGTTTGCACGCCTCTGGGCCTGAGCGGCGGGACCCCGTCCACAGCGGATCCCTGGGCCCTGTTGCTCAGATGCTCTCAGAGTGTTGCTGTGGCCACGGAGGGAGCCTGAGTTAAGCTTCTCTTGTGCCGGTTGTACGCTGTCAGGTCACACTGGTGAGTTAGGCAGGGCACAGATGCCCAGAGCAGAGGGAACTTTCCTTGGGGATTCAACACGTGCAAGTCTTAGGGGCTGGCAAATCCTGCCCTCAGCTAGAGAGGGGGCTTTTATTTGAGACCAGAATCACCTGAGCATCCTCCTGTCCCCAGCTGTGTCCAGCCTGTCTGCAGGGACATCCTGAGAGGACCAGGCTCTCCCCTCATCCACCTGCCTAAGTGCCACTCTGAACCCTGTCCACCTGTGCCGTGGAGGGGCGTGACCTCAAGCTGCTCAGCCAGCAGCAGGCTTGGCCCTGGGGGGCAGCAGAGACCCAGGTGGCTGTGGGGTGGGTGCTTCGTGGCGTGGTTCTGAAACTTCGTTGGAAGTGTGTGGACAGTGCCTTGCCTGTTCTCTGTGGGACCCTATTTAGAAACGAGGTCTGAGTTACTGGGGGTCATCACTGTGTTCTGATGGCCCAGCTGTGTGGAGGCCGCGGTGCAGCCCCATCCAAGGAGCCAGGGCCCTGGGTCTAGCCGTGACCAGAATGCATGCCCCGGAGGTGTTTCTCATCTCGCACCTGTGTTGCCTGGTGTGTCAAGTGGTCGTGAAACTCTGTGTTAGCTCTTGGTGTTCCTGAAAGTGCCCCCGGGTCTCAGGCCTCAGAACCAGGGTTTCCCTTCATCTCGGTGGCCTGGGAGCATCTGGGCAGTTGAGCAAAGAGGGCGATTCACTTGAAGGGTGTGTCTGGCCCTGCCTAGGAGCCCCCCGGCACGGTGCTGGGGCCTGAAGCCGCCCTCGGGTGGTGGAGAGGAGGGAGCGATGAAGTGGCGTCGAGCTGGGCAGGAAGGGTGAGCCCCTGCAAGGTGGGCATGCTGGGGACGCTGAGCAGCATGGCCAGCAGCTGGGTCTGCAGCCTGGTACCCGGCGGGACTTGTGGTTGGGGCTGGTTTGTGGCCAGGAGAGGGGCTGGCAGGAGACAAGGGGGACTGTGAGGCAGCTCCCACCCAGCAGCTGAAGCCCAATGGCCTGGCTGTGTGGCTCTCAGCTGCGTGCATAACCTCTCAGTGCTTCAGTTCTCTCATTTGTAAAATGAGGAAACAAACAGTGCCAGCCTCCCAGAGGTGTCATGAGGATGAACGAGTGACCATGTAGCATGGGCTGGGTGCGTGTCACCTAACATCACCAGCCTTTGCAAGGAGAGCCCTGGGGGCCTGGCTGAGTATTTCCCTTGCCCGGCCCACCCCAGGCCTAGACTTGTGCCTGCTGCAGGCCCTTGACCCCTGACCCCATTGCACCTGTCTCCACAGGAGCCGAGGAGGTGCTGCTGCTGGCCCGGCGGACGGACCTACGGAGGATCTCGCTGGACACGCCGGACTTCACCGACATCGTGCTGCAGGTGGACGACATCCGGCACGCCATTGCCATCGACTACGACCCGCTAGAGGGCTATGTCTACTGGACAGATGACGAGGTGCGGGCCATCCGCAGGGCGTACCTGGACGGGTCTGGGGCGCAGGCGCTGGTCAACACCGAGATCAACGACCCCGATGGCATCGCGGTCGACTGGGTGGCCCGAAACCTCTACTGGACCGACACGGGCACGGACCGCATCGAGGTGACGCGCCTCAACGGCACCTCCCGCAAGATCCTGGTGTCGGAGGACCTGGACGAGCCCCGAGCCATCGCACTGCACCCCGTGATGGGGTAAGACGGGCGGGGGCTGGGGCCTGGAGCCAGGGCCAGGCCAAGCACAGGCGAGAGGGAGATTGACCTGGACCTGTCATTCTGGGACACTGTCTTGCATCAGAACCCGGAGGAGGGCTTGTTAAAACACCGGCAGCTGGGCCCCACCCCCAGAGCGGTGATTCAGGAGCTCCAGGGCGGGGCTGAAGACTTGGGTTTCTAACAAGCACCCCAGTGGTCCGGTGCTGCTGCTGGGTCCATGCGTAGAAAGCCCTGGAGACCTGGAGGGAGCCCTTTGTTCCCCTGGCTTCAGTTTCCTCATCTGTAGAATGGAACGGTCCATCTGGGTGATTTCCAGGATGACAGTAGTGACAGTAAGGGCAGCCTCTGTGACACTGACCACAGTACAGGCCAGGCCTCTTTTTTTCTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTACAACCTCTGCCTCCTGGGCTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACTGTGCTTGGCTAATGTTTGTATTTTTGGTAGAGATGGGGTTTCACCGTCTTGGCCAGGCTGGTCGCAAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGTCAGGCCAGGCCTCTTTTGAACACTTTGCACACCATGGGTCTTTTCATCCAGGGGGGTAGGTACAGTTGTACAGTTGAGGACACTGAAGCCCAGAGAGGCTCAGGGACTTGCCCAGGGTCACACAGCAGGATGTGGCAGGTGTGGGGCTGGGCCTGGCAGCGTGGCTCCAGCTTTCCAGCATAGAAATCTGTGAAAGCAGATAGTTTGTCGGTCGGTAGGGGAGACTTTCTGAGACCCGCCCCAGCGGCTCAGAGGGTAGTAGCCAGGGGCCTTCCTGGGGGCTCATAACCCAGAACACTGAATGGGAAAACCCTGATGGAGGAGGCGCAGTGGAGCTGTGGGTGCCGATGGGAAGTCCCAGAGGAGCTGGGAGGTCAGTAGCGGTGCTGCCCTCTGTGGAGCACTTAGTGGGCACCAGGTGTGTTTCCAGGTTCATGGCCCTGGGACCTGAAGCTCAGAAGGTGAAGTAACTTGCCCAGGGCACCCGTCGGGCAGCGGCGGGCAGAGGATTTGTGGGCTGTGGAGCCTGTGCTCGTGGCCCAGCCCTGGGGGTTGTGAGTGTGCTGGCCGGGGAGCTTTTCCTGCAAGTGGACTGGTGTCTAGGAGCCAGCATGTCAGGCAGCAGGCAGCGGGAGTGCAGCAGGCAGCGGGAGCACAGCAGGCAGAGGGCGGGGCTCGAGCAGCCATCCGTGGACCCTGGGGCACGGAGGCATGTGGGAGAGGGCTGCTCCATGGCAGTGGCTGAAGGGCTGGGTTGTGCCCCGAGGAGGGTGGATGAGGGTAAGAAGTGGGGTCCCCAGGGGCTTTAGCAAGAGGAGGCCCAGGAACTGGTTGCCAGCTACAGTGAAGGGAACACGGCCCTGAGGTCAGGAGCTTGGTCAAGTCACTGTCTACATGGGCCTCGGTGTCCTCATCTGTGAAAAAGGAAGGGATGGGGAAGCTGACTCCAAGGCCCCTCCTAGCCCTGGTTTCATGAGTCTGAGGATCCCAGGGACATGGGCTTGGCAGTCTGACCTGTGAGGTCGTGGGGTCCAGGGAGGGGCACCGAGCTGGAAGCGGGAGGCAGAGGGGCTGGCCGGCTGGGTCAGACACAGCTGAAGCAGAGGCTGTGACTTGGGGCCTCAGAACCTTCACCCCTGAGCTGCCACCCCAGGATCTG
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Task1_train_16167
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A mutation in LRP5 (LDL receptor related protein 5), located on Chromosome 11, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Exudative vitreoretinopathy 4
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CATCCTTGAGACCAGAAAGGTCTGGAACAAATGAGTAGACGATGCCCTAACCTGGGGAGGGAGCCACATCCTGATCCCAGCAACCTCAGGAAGGATCTGTCAGGATTATGGGGCACCCTGGGGGCCCCAAGTCTGCATGGGTCTCCACTTGCAATTTCTGTAGGAAGCTCTGATAAATCCAAACTGGGGGTCCTAGGACACAGTCAGAAATGCTGATACCGTTGTGTGTGGAGCCTCGGGCCCTGGGGGTCAGGAGCATGTGGAGGGTGGGCCACGGGGGTTCAGAAGAGAATCCTGTAACCCCCCACCCCCCAAACTGAAGCCCACTTGAGGGCCATGGCTGAAAGGTTGGGGGGTCTCCGTGCGTCCTGTGGAGTGGGTGGTGAGGAGTCCTTGGGTTTGCACGCCTCTGGGCCTGAGCGGCGGGACCCCGTCCACAGCGGATCCCTGGGCCCTGTTGCTCAGATGCTCTCAGAGTGTTGCTGTGGCCACGGAGGGAGCCTGAGTTAAGCTTCTCTTGTGCCGGTTGTACGCTGTCAGGTCACACTGGTGAGTTAGGCAGGGCACAGATGCCCAGAGCAGAGGGAACTTTCCTTGGGGATTCAACACGTGCAAGTCTTAGGGGCTGGCAAATCCTGCCCTCAGCTAGAGAGGGGGCTTTTATTTGAGACCAGAATCACCTGAGCATCCTCCTGTCCCCAGCTGTGTCCAGCCTGTCTGCAGGGACATCCTGAGAGGACCAGGCTCTCCCCTCATCCACCTGCCTAAGTGCCACTCTGAACCCTGTCCACCTGTGCCGTGGAGGGGCGTGACCTCAAGCTGCTCAGCCAGCAGCAGGCTTGGCCCTGGGGGGCAGCAGAGACCCAGGTGGCTGTGGGGTGGGTGCTTCGTGGCGTGGTTCTGAAACTTCGTTGGAAGTGTGTGGACAGTGCCTTGCCTGTTCTCTGTGGGACCCTATTTAGAAACGAGGTCTGAGTTACTGGGGGTCATCACTGTGTTCTGATGGCCCAGCTGTGTGGAGGCCGCGGTGCAGCCCCATCCAAGGAGCCAGGGCCCTGGGTCTAGCCGTGACCAGAATGCATGCCCCGGAGGTGTTTCTCATCTCGCACCTGTGTTGCCTGGTGTGTCAAGTGGTCGTGAAACTCTGTGTTAGCTCTTGGTGTTCCTGAAAGTGCCCCCGGGTCTCAGGCCTCAGAACCAGGGTTTCCCTTCATCTCGGTGGCCTGGGAGCATCTGGGCAGTTGAGCAAAGAGGGCGATTCACTTGAAGGGTGTGTCTGGCCCTGCCTAGGAGCCCCCCGGCACGGTGCTGGGGCCTGAAGCCGCCCTCGGGTGGTGGAGAGGAGGGAGCGATGAAGTGGCGTCGAGCTGGGCAGGAAGGGTGAGCCCCTGCAAGGTGGGCATGCTGGGGACGCTGAGCAGCATGGCCAGCAGCTGGGTCTGCAGCCTGGTACCCGGCGGGACTTGTGGTTGGGGCTGGTTTGTGGCCAGGAGAGGGGCTGGCAGGAGACAAGGGGGACTGTGAGGCAGCTCCCACCCAGCAGCTGAAGCCCAATGGCCTGGCTGTGTGGCTCTCAGCTGCGTGCATAACCTCTCAGTGCTTCAGTTCTCTCATTTGTAAAATGAGGAAACAAACAGTGCCAGCCTCCCAGAGGTGTCATGAGGATGAACGAGTGACCATGTAGCATGGGCTGGGTGCGTGTCACCTAACATCACCAGCCTTTGCAAGGAGAGCCCTGGGGGCCTGGCTGAGTATTTCCCTTGCCCGGCCCACCCCAGGCCTAGACTTGTGCCTGCTGCAGGCCCTTGACCCCTGACCCCATTGCACCTGTCTCCACAGGAGCCGAGGAGGTGCTGCTGCTGGCCCGGCGGACGGACCTACGGAGGATCTCGCTGGACACGCCGGACTTCACCGACATCGTGCTGCAGGTGGACGACATCCGGCACGCCATTGCCATCGACTACGACCCGCTAGAGGGCTATGTCTACTGGACAGATGACGAGGTGCGGGCCATCCGCAGGGCGTACCTGGACGGGTCTGGGGCGCAGACGCTGGTCAACACCGAGATCAACGACCCCGATGGCATCGCGGTCGACTGGGTGGCCCGAAACCTCTACTGGACCGACACGGGCACGGACCGCATCGAGGTGACGCGCCTCAACGGCACCTCCCGCAAGATCCTGGTGTCGGAGGACCTGGACGAGCCCCGAGCCATCGCACTGCACCCCGTGATGGGGTAAGACGGGCGGGGGCTGGGGCCTGGAGCCAGGGCCAGGCCAAGCACAGGCGAGAGGGAGATTGACCTGGACCTGTCATTCTGGGACACTGTCTTGCATCAGAACCCGGAGGAGGGCTTGTTAAAACACCGGCAGCTGGGCCCCACCCCCAGAGCGGTGATTCAGGAGCTCCAGGGCGGGGCTGAAGACTTGGGTTTCTAACAAGCACCCCAGTGGTCCGGTGCTGCTGCTGGGTCCATGCGTAGAAAGCCCTGGAGACCTGGAGGGAGCCCTTTGTTCCCCTGGCTTCAGTTTCCTCATCTGTAGAATGGAACGGTCCATCTGGGTGATTTCCAGGATGACAGTAGTGACAGTAAGGGCAGCCTCTGTGACACTGACCACAGTACAGGCCAGGCCTCTTTTTTTCTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTACAACCTCTGCCTCCTGGGCTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACTGTGCTTGGCTAATGTTTGTATTTTTGGTAGAGATGGGGTTTCACCGTCTTGGCCAGGCTGGTCGCAAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGTCAGGCCAGGCCTCTTTTGAACACTTTGCACACCATGGGTCTTTTCATCCAGGGGGGTAGGTACAGTTGTACAGTTGAGGACACTGAAGCCCAGAGAGGCTCAGGGACTTGCCCAGGGTCACACAGCAGGATGTGGCAGGTGTGGGGCTGGGCCTGGCAGCGTGGCTCCAGCTTTCCAGCATAGAAATCTGTGAAAGCAGATAGTTTGTCGGTCGGTAGGGGAGACTTTCTGAGACCCGCCCCAGCGGCTCAGAGGGTAGTAGCCAGGGGCCTTCCTGGGGGCTCATAACCCAGAACACTGAATGGGAAAACCCTGATGGAGGAGGCGCAGTGGAGCTGTGGGTGCCGATGGGAAGTCCCAGAGGAGCTGGGAGGTCAGTAGCGGTGCTGCCCTCTGTGGAGCACTTAGTGGGCACCAGGTGTGTTTCCAGGTTCATGGCCCTGGGACCTGAAGCTCAGAAGGTGAAGTAACTTGCCCAGGGCACCCGTCGGGCAGCGGCGGGCAGAGGATTTGTGGGCTGTGGAGCCTGTGCTCGTGGCCCAGCCCTGGGGGTTGTGAGTGTGCTGGCCGGGGAGCTTTTCCTGCAAGTGGACTGGTGTCTAGGAGCCAGCATGTCAGGCAGCAGGCAGCGGGAGTGCAGCAGGCAGCGGGAGCACAGCAGGCAGAGGGCGGGGCTCGAGCAGCCATCCGTGGACCCTGGGGCACGGAGGCATGTGGGAGAGGGCTGCTCCATGGCAGTGGCTGAAGGGCTGGGTTGTGCCCCGAGGAGGGTGGATGAGGGTAAGAAGTGGGGTCCCCAGGGGCTTTAGCAAGAGGAGGCCCAGGAACTGGTTGCCAGCTACAGTGAAGGGAACACGGCCCTGAGGTCAGGAGCTTGGTCAAGTCACTGTCTACATGGGCCTCGGTGTCCTCATCTGTGAAAAAGGAAGGGATGGGGAAGCTGACTCCAAGGCCCCTCCTAGCCCTGGTTTCATGAGTCTGAGGATCCCAGGGACATGGGCTTGGCAGTCTGACCTGTGAGGTCGTGGGGTCCAGGGAGGGGCACCGAGCTGGAAGCGGGAGGCAGAGGGGCTGGCCGGCTGGGTCAGACACAGCTGAAGCAGAGGCTGTGACTTGGGGCCTCAGAACCTTCACCCCTGAGCTGCCACCCCAGGATCTG
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CATCCTTGAGACCAGAAAGGTCTGGAACAAATGAGTAGACGATGCCCTAACCTGGGGAGGGAGCCACATCCTGATCCCAGCAACCTCAGGAAGGATCTGTCAGGATTATGGGGCACCCTGGGGGCCCCAAGTCTGCATGGGTCTCCACTTGCAATTTCTGTAGGAAGCTCTGATAAATCCAAACTGGGGGTCCTAGGACACAGTCAGAAATGCTGATACCGTTGTGTGTGGAGCCTCGGGCCCTGGGGGTCAGGAGCATGTGGAGGGTGGGCCACGGGGGTTCAGAAGAGAATCCTGTAACCCCCCACCCCCCAAACTGAAGCCCACTTGAGGGCCATGGCTGAAAGGTTGGGGGGTCTCCGTGCGTCCTGTGGAGTGGGTGGTGAGGAGTCCTTGGGTTTGCACGCCTCTGGGCCTGAGCGGCGGGACCCCGTCCACAGCGGATCCCTGGGCCCTGTTGCTCAGATGCTCTCAGAGTGTTGCTGTGGCCACGGAGGGAGCCTGAGTTAAGCTTCTCTTGTGCCGGTTGTACGCTGTCAGGTCACACTGGTGAGTTAGGCAGGGCACAGATGCCCAGAGCAGAGGGAACTTTCCTTGGGGATTCAACACGTGCAAGTCTTAGGGGCTGGCAAATCCTGCCCTCAGCTAGAGAGGGGGCTTTTATTTGAGACCAGAATCACCTGAGCATCCTCCTGTCCCCAGCTGTGTCCAGCCTGTCTGCAGGGACATCCTGAGAGGACCAGGCTCTCCCCTCATCCACCTGCCTAAGTGCCACTCTGAACCCTGTCCACCTGTGCCGTGGAGGGGCGTGACCTCAAGCTGCTCAGCCAGCAGCAGGCTTGGCCCTGGGGGGCAGCAGAGACCCAGGTGGCTGTGGGGTGGGTGCTTCGTGGCGTGGTTCTGAAACTTCGTTGGAAGTGTGTGGACAGTGCCTTGCCTGTTCTCTGTGGGACCCTATTTAGAAACGAGGTCTGAGTTACTGGGGGTCATCACTGTGTTCTGATGGCCCAGCTGTGTGGAGGCCGCGGTGCAGCCCCATCCAAGGAGCCAGGGCCCTGGGTCTAGCCGTGACCAGAATGCATGCCCCGGAGGTGTTTCTCATCTCGCACCTGTGTTGCCTGGTGTGTCAAGTGGTCGTGAAACTCTGTGTTAGCTCTTGGTGTTCCTGAAAGTGCCCCCGGGTCTCAGGCCTCAGAACCAGGGTTTCCCTTCATCTCGGTGGCCTGGGAGCATCTGGGCAGTTGAGCAAAGAGGGCGATTCACTTGAAGGGTGTGTCTGGCCCTGCCTAGGAGCCCCCCGGCACGGTGCTGGGGCCTGAAGCCGCCCTCGGGTGGTGGAGAGGAGGGAGCGATGAAGTGGCGTCGAGCTGGGCAGGAAGGGTGAGCCCCTGCAAGGTGGGCATGCTGGGGACGCTGAGCAGCATGGCCAGCAGCTGGGTCTGCAGCCTGGTACCCGGCGGGACTTGTGGTTGGGGCTGGTTTGTGGCCAGGAGAGGGGCTGGCAGGAGACAAGGGGGACTGTGAGGCAGCTCCCACCCAGCAGCTGAAGCCCAATGGCCTGGCTGTGTGGCTCTCAGCTGCGTGCATAACCTCTCAGTGCTTCAGTTCTCTCATTTGTAAAATGAGGAAACAAACAGTGCCAGCCTCCCAGAGGTGTCATGAGGATGAACGAGTGACCATGTAGCATGGGCTGGGTGCGTGTCACCTAACATCACCAGCCTTTGCAAGGAGAGCCCTGGGGGCCTGGCTGAGTATTTCCCTTGCCCGGCCCACCCCAGGCCTAGACTTGTGCCTGCTGCAGGCCCTTGACCCCTGACCCCATTGCACCTGTCTCCACAGGAGCCGAGGAGGTGCTGCTGCTGGCCCGGCGGACGGACCTACGGAGGATCTCGCTGGACACGCCGGACTTCACCGACATCGTGCTGCAGGTGGACGACATCCGGCACGCCATTGCCATCGACTACGACCCGCTAGAGGGCTATGTCTACTGGACAGATGACGAGGTGCGGGCCATCCGCAGGGCGTACCTGGACGGGTCTGGGGCGCAGGCGCTGGTCAACACCGAGATCAACGACCCCGATGGCATCGCGGTCGACTGGGTGGCCCGAAACCTCTACTGGACCGACACGGGCACGGACCGCATCGAGGTGACGCGCCTCAACGGCACCTCCCGCAAGATCCTGGTGTCGGAGGACCTGGACGAGCCCCGAGCCATCGCACTGCACCCCGTGATGGGGTAAGACGGGCGGGGGCTGGGGCCTGGAGCCAGGGCCAGGCCAAGCACAGGCGAGAGGGAGATTGACCTGGACCTGTCATTCTGGGACACTGTCTTGCATCAGAACCCGGAGGAGGGCTTGTTAAAACACCGGCAGCTGGGCCCCACCCCCAGAGCGGTGATTCAGGAGCTCCAGGGCGGGGCTGAAGACTTGGGTTTCTAACAAGCACCCCAGTGGTCCGGTGCTGCTGCTGGGTCCATGCGTAGAAAGCCCTGGAGACCTGGAGGGAGCCCTTTGTTCCCCTGGCTTCAGTTTCCTCATCTGTAGAATGGAACGGTCCATCTGGGTGATTTCCAGGATGACAGTAGTGACAGTAAGGGCAGCCTCTGTGACACTGACCACAGTACAGGCCAGGCCTCTTTTTTTCTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTACAACCTCTGCCTCCTGGGCTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACTGTGCTTGGCTAATGTTTGTATTTTTGGTAGAGATGGGGTTTCACCGTCTTGGCCAGGCTGGTCGCAAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGTCAGGCCAGGCCTCTTTTGAACACTTTGCACACCATGGGTCTTTTCATCCAGGGGGGTAGGTACAGTTGTACAGTTGAGGACACTGAAGCCCAGAGAGGCTCAGGGACTTGCCCAGGGTCACACAGCAGGATGTGGCAGGTGTGGGGCTGGGCCTGGCAGCGTGGCTCCAGCTTTCCAGCATAGAAATCTGTGAAAGCAGATAGTTTGTCGGTCGGTAGGGGAGACTTTCTGAGACCCGCCCCAGCGGCTCAGAGGGTAGTAGCCAGGGGCCTTCCTGGGGGCTCATAACCCAGAACACTGAATGGGAAAACCCTGATGGAGGAGGCGCAGTGGAGCTGTGGGTGCCGATGGGAAGTCCCAGAGGAGCTGGGAGGTCAGTAGCGGTGCTGCCCTCTGTGGAGCACTTAGTGGGCACCAGGTGTGTTTCCAGGTTCATGGCCCTGGGACCTGAAGCTCAGAAGGTGAAGTAACTTGCCCAGGGCACCCGTCGGGCAGCGGCGGGCAGAGGATTTGTGGGCTGTGGAGCCTGTGCTCGTGGCCCAGCCCTGGGGGTTGTGAGTGTGCTGGCCGGGGAGCTTTTCCTGCAAGTGGACTGGTGTCTAGGAGCCAGCATGTCAGGCAGCAGGCAGCGGGAGTGCAGCAGGCAGCGGGAGCACAGCAGGCAGAGGGCGGGGCTCGAGCAGCCATCCGTGGACCCTGGGGCACGGAGGCATGTGGGAGAGGGCTGCTCCATGGCAGTGGCTGAAGGGCTGGGTTGTGCCCCGAGGAGGGTGGATGAGGGTAAGAAGTGGGGTCCCCAGGGGCTTTAGCAAGAGGAGGCCCAGGAACTGGTTGCCAGCTACAGTGAAGGGAACACGGCCCTGAGGTCAGGAGCTTGGTCAAGTCACTGTCTACATGGGCCTCGGTGTCCTCATCTGTGAAAAAGGAAGGGATGGGGAAGCTGACTCCAAGGCCCCTCCTAGCCCTGGTTTCATGAGTCTGAGGATCCCAGGGACATGGGCTTGGCAGTCTGACCTGTGAGGTCGTGGGGTCCAGGGAGGGGCACCGAGCTGGAAGCGGGAGGCAGAGGGGCTGGCCGGCTGGGTCAGACACAGCTGAAGCAGAGGCTGTGACTTGGGGCCTCAGAACCTTCACCCCTGAGCTGCCACCCCAGGATCTG
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Task1_train_16168
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This sequence variant lies in LRP5 (LDL receptor related protein 5) on Chromosome 11. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Worth disease
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CATCCTTGAGACCAGAAAGGTCTGGAACAAATGAGTAGACGATGCCCTAACCTGGGGAGGGAGCCACATCCTGATCCCAGCAACCTCAGGAAGGATCTGTCAGGATTATGGGGCACCCTGGGGGCCCCAAGTCTGCATGGGTCTCCACTTGCAATTTCTGTAGGAAGCTCTGATAAATCCAAACTGGGGGTCCTAGGACACAGTCAGAAATGCTGATACCGTTGTGTGTGGAGCCTCGGGCCCTGGGGGTCAGGAGCATGTGGAGGGTGGGCCACGGGGGTTCAGAAGAGAATCCTGTAACCCCCCACCCCCCAAACTGAAGCCCACTTGAGGGCCATGGCTGAAAGGTTGGGGGGTCTCCGTGCGTCCTGTGGAGTGGGTGGTGAGGAGTCCTTGGGTTTGCACGCCTCTGGGCCTGAGCGGCGGGACCCCGTCCACAGCGGATCCCTGGGCCCTGTTGCTCAGATGCTCTCAGAGTGTTGCTGTGGCCACGGAGGGAGCCTGAGTTAAGCTTCTCTTGTGCCGGTTGTACGCTGTCAGGTCACACTGGTGAGTTAGGCAGGGCACAGATGCCCAGAGCAGAGGGAACTTTCCTTGGGGATTCAACACGTGCAAGTCTTAGGGGCTGGCAAATCCTGCCCTCAGCTAGAGAGGGGGCTTTTATTTGAGACCAGAATCACCTGAGCATCCTCCTGTCCCCAGCTGTGTCCAGCCTGTCTGCAGGGACATCCTGAGAGGACCAGGCTCTCCCCTCATCCACCTGCCTAAGTGCCACTCTGAACCCTGTCCACCTGTGCCGTGGAGGGGCGTGACCTCAAGCTGCTCAGCCAGCAGCAGGCTTGGCCCTGGGGGGCAGCAGAGACCCAGGTGGCTGTGGGGTGGGTGCTTCGTGGCGTGGTTCTGAAACTTCGTTGGAAGTGTGTGGACAGTGCCTTGCCTGTTCTCTGTGGGACCCTATTTAGAAACGAGGTCTGAGTTACTGGGGGTCATCACTGTGTTCTGATGGCCCAGCTGTGTGGAGGCCGCGGTGCAGCCCCATCCAAGGAGCCAGGGCCCTGGGTCTAGCCGTGACCAGAATGCATGCCCCGGAGGTGTTTCTCATCTCGCACCTGTGTTGCCTGGTGTGTCAAGTGGTCGTGAAACTCTGTGTTAGCTCTTGGTGTTCCTGAAAGTGCCCCCGGGTCTCAGGCCTCAGAACCAGGGTTTCCCTTCATCTCGGTGGCCTGGGAGCATCTGGGCAGTTGAGCAAAGAGGGCGATTCACTTGAAGGGTGTGTCTGGCCCTGCCTAGGAGCCCCCCGGCACGGTGCTGGGGCCTGAAGCCGCCCTCGGGTGGTGGAGAGGAGGGAGCGATGAAGTGGCGTCGAGCTGGGCAGGAAGGGTGAGCCCCTGCAAGGTGGGCATGCTGGGGACGCTGAGCAGCATGGCCAGCAGCTGGGTCTGCAGCCTGGTACCCGGCGGGACTTGTGGTTGGGGCTGGTTTGTGGCCAGGAGAGGGGCTGGCAGGAGACAAGGGGGACTGTGAGGCAGCTCCCACCCAGCAGCTGAAGCCCAATGGCCTGGCTGTGTGGCTCTCAGCTGCGTGCATAACCTCTCAGTGCTTCAGTTCTCTCATTTGTAAAATGAGGAAACAAACAGTGCCAGCCTCCCAGAGGTGTCATGAGGATGAACGAGTGACCATGTAGCATGGGCTGGGTGCGTGTCACCTAACATCACCAGCCTTTGCAAGGAGAGCCCTGGGGGCCTGGCTGAGTATTTCCCTTGCCCGGCCCACCCCAGGCCTAGACTTGTGCCTGCTGCAGGCCCTTGACCCCTGACCCCATTGCACCTGTCTCCACAGGAGCCGAGGAGGTGCTGCTGCTGGCCCGGCGGACGGACCTACGGAGGATCTCGCTGGACACGCCGGACTTCACCGACATCGTGCTGCAGGTGGACGACATCCGGCACGCCATTGCCATCGACTACGACCCGCTAGAGGGCTATGTCTACTGGACAGATGACGAGGTGCGGGCCATCCGCAGGGCGTACCTGGACGGGTCTGGGGCGCAGACGCTGGTCAACACCGAGATCAACGACCCCGATGGCATCGCGGTCGACTGGGTGGCCCGAAACCTCTACTGGACCGACACGGGCACGGACCGCATCGAGGTGACGCGCCTCAACGGCACCTCCCGCAAGATCCTGGTGTCGGAGGACCTGGACGAGCCCCGAGCCATCGCACTGCACCCCGTGATGGGGTAAGACGGGCGGGGGCTGGGGCCTGGAGCCAGGGCCAGGCCAAGCACAGGCGAGAGGGAGATTGACCTGGACCTGTCATTCTGGGACACTGTCTTGCATCAGAACCCGGAGGAGGGCTTGTTAAAACACCGGCAGCTGGGCCCCACCCCCAGAGCGGTGATTCAGGAGCTCCAGGGCGGGGCTGAAGACTTGGGTTTCTAACAAGCACCCCAGTGGTCCGGTGCTGCTGCTGGGTCCATGCGTAGAAAGCCCTGGAGACCTGGAGGGAGCCCTTTGTTCCCCTGGCTTCAGTTTCCTCATCTGTAGAATGGAACGGTCCATCTGGGTGATTTCCAGGATGACAGTAGTGACAGTAAGGGCAGCCTCTGTGACACTGACCACAGTACAGGCCAGGCCTCTTTTTTTCTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTACAACCTCTGCCTCCTGGGCTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACTGTGCTTGGCTAATGTTTGTATTTTTGGTAGAGATGGGGTTTCACCGTCTTGGCCAGGCTGGTCGCAAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGTCAGGCCAGGCCTCTTTTGAACACTTTGCACACCATGGGTCTTTTCATCCAGGGGGGTAGGTACAGTTGTACAGTTGAGGACACTGAAGCCCAGAGAGGCTCAGGGACTTGCCCAGGGTCACACAGCAGGATGTGGCAGGTGTGGGGCTGGGCCTGGCAGCGTGGCTCCAGCTTTCCAGCATAGAAATCTGTGAAAGCAGATAGTTTGTCGGTCGGTAGGGGAGACTTTCTGAGACCCGCCCCAGCGGCTCAGAGGGTAGTAGCCAGGGGCCTTCCTGGGGGCTCATAACCCAGAACACTGAATGGGAAAACCCTGATGGAGGAGGCGCAGTGGAGCTGTGGGTGCCGATGGGAAGTCCCAGAGGAGCTGGGAGGTCAGTAGCGGTGCTGCCCTCTGTGGAGCACTTAGTGGGCACCAGGTGTGTTTCCAGGTTCATGGCCCTGGGACCTGAAGCTCAGAAGGTGAAGTAACTTGCCCAGGGCACCCGTCGGGCAGCGGCGGGCAGAGGATTTGTGGGCTGTGGAGCCTGTGCTCGTGGCCCAGCCCTGGGGGTTGTGAGTGTGCTGGCCGGGGAGCTTTTCCTGCAAGTGGACTGGTGTCTAGGAGCCAGCATGTCAGGCAGCAGGCAGCGGGAGTGCAGCAGGCAGCGGGAGCACAGCAGGCAGAGGGCGGGGCTCGAGCAGCCATCCGTGGACCCTGGGGCACGGAGGCATGTGGGAGAGGGCTGCTCCATGGCAGTGGCTGAAGGGCTGGGTTGTGCCCCGAGGAGGGTGGATGAGGGTAAGAAGTGGGGTCCCCAGGGGCTTTAGCAAGAGGAGGCCCAGGAACTGGTTGCCAGCTACAGTGAAGGGAACACGGCCCTGAGGTCAGGAGCTTGGTCAAGTCACTGTCTACATGGGCCTCGGTGTCCTCATCTGTGAAAAAGGAAGGGATGGGGAAGCTGACTCCAAGGCCCCTCCTAGCCCTGGTTTCATGAGTCTGAGGATCCCAGGGACATGGGCTTGGCAGTCTGACCTGTGAGGTCGTGGGGTCCAGGGAGGGGCACCGAGCTGGAAGCGGGAGGCAGAGGGGCTGGCCGGCTGGGTCAGACACAGCTGAAGCAGAGGCTGTGACTTGGGGCCTCAGAACCTTCACCCCTGAGCTGCCACCCCAGGATCTG
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CATCCTTGAGACCAGAAAGGTCTGGAACAAATGAGTAGACGATGCCCTAACCTGGGGAGGGAGCCACATCCTGATCCCAGCAACCTCAGGAAGGATCTGTCAGGATTATGGGGCACCCTGGGGGCCCCAAGTCTGCATGGGTCTCCACTTGCAATTTCTGTAGGAAGCTCTGATAAATCCAAACTGGGGGTCCTAGGACACAGTCAGAAATGCTGATACCGTTGTGTGTGGAGCCTCGGGCCCTGGGGGTCAGGAGCATGTGGAGGGTGGGCCACGGGGGTTCAGAAGAGAATCCTGTAACCCCCCACCCCCCAAACTGAAGCCCACTTGAGGGCCATGGCTGAAAGGTTGGGGGGTCTCCGTGCGTCCTGTGGAGTGGGTGGTGAGGAGTCCTTGGGTTTGCACGCCTCTGGGCCTGAGCGGCGGGACCCCGTCCACAGCGGATCCCTGGGCCCTGTTGCTCAGATGCTCTCAGAGTGTTGCTGTGGCCACGGAGGGAGCCTGAGTTAAGCTTCTCTTGTGCCGGTTGTACGCTGTCAGGTCACACTGGTGAGTTAGGCAGGGCACAGATGCCCAGAGCAGAGGGAACTTTCCTTGGGGATTCAACACGTGCAAGTCTTAGGGGCTGGCAAATCCTGCCCTCAGCTAGAGAGGGGGCTTTTATTTGAGACCAGAATCACCTGAGCATCCTCCTGTCCCCAGCTGTGTCCAGCCTGTCTGCAGGGACATCCTGAGAGGACCAGGCTCTCCCCTCATCCACCTGCCTAAGTGCCACTCTGAACCCTGTCCACCTGTGCCGTGGAGGGGCGTGACCTCAAGCTGCTCAGCCAGCAGCAGGCTTGGCCCTGGGGGGCAGCAGAGACCCAGGTGGCTGTGGGGTGGGTGCTTCGTGGCGTGGTTCTGAAACTTCGTTGGAAGTGTGTGGACAGTGCCTTGCCTGTTCTCTGTGGGACCCTATTTAGAAACGAGGTCTGAGTTACTGGGGGTCATCACTGTGTTCTGATGGCCCAGCTGTGTGGAGGCCGCGGTGCAGCCCCATCCAAGGAGCCAGGGCCCTGGGTCTAGCCGTGACCAGAATGCATGCCCCGGAGGTGTTTCTCATCTCGCACCTGTGTTGCCTGGTGTGTCAAGTGGTCGTGAAACTCTGTGTTAGCTCTTGGTGTTCCTGAAAGTGCCCCCGGGTCTCAGGCCTCAGAACCAGGGTTTCCCTTCATCTCGGTGGCCTGGGAGCATCTGGGCAGTTGAGCAAAGAGGGCGATTCACTTGAAGGGTGTGTCTGGCCCTGCCTAGGAGCCCCCCGGCACGGTGCTGGGGCCTGAAGCCGCCCTCGGGTGGTGGAGAGGAGGGAGCGATGAAGTGGCGTCGAGCTGGGCAGGAAGGGTGAGCCCCTGCAAGGTGGGCATGCTGGGGACGCTGAGCAGCATGGCCAGCAGCTGGGTCTGCAGCCTGGTACCCGGCGGGACTTGTGGTTGGGGCTGGTTTGTGGCCAGGAGAGGGGCTGGCAGGAGACAAGGGGGACTGTGAGGCAGCTCCCACCCAGCAGCTGAAGCCCAATGGCCTGGCTGTGTGGCTCTCAGCTGCGTGCATAACCTCTCAGTGCTTCAGTTCTCTCATTTGTAAAATGAGGAAACAAACAGTGCCAGCCTCCCAGAGGTGTCATGAGGATGAACGAGTGACCATGTAGCATGGGCTGGGTGCGTGTCACCTAACATCACCAGCCTTTGCAAGGAGAGCCCTGGGGGCCTGGCTGAGTATTTCCCTTGCCCGGCCCACCCCAGGCCTAGACTTGTGCCTGCTGCAGGCCCTTGACCCCTGACCCCATTGCACCTGTCTCCACAGGAGCCGAGGAGGTGCTGCTGCTGGCCCGGCGGACGGACCTACGGAGGATCTCGCTGGACACGCCGGACTTCACCGACATCGTGCTGCAGGTGGACGACATCCGGCACGCCATTGCCATCGACTACGACCCGCTAGAGGGCTATGTCTACTGGACAGATGACGAGGTGCGGGCCATCCGCAGGGCGTACCTGGACGGGTCTGGGGCGCAGGCGCTGGTCAACACCGAGATCAACGACCCCGATGGCATCGCGGTCGACTGGGTGGCCCGAAACCTCTACTGGACCGACACGGGCACGGACCGCATCGAGGTGACGCGCCTCAACGGCACCTCCCGCAAGATCCTGGTGTCGGAGGACCTGGACGAGCCCCGAGCCATCGCACTGCACCCCGTGATGGGGTAAGACGGGCGGGGGCTGGGGCCTGGAGCCAGGGCCAGGCCAAGCACAGGCGAGAGGGAGATTGACCTGGACCTGTCATTCTGGGACACTGTCTTGCATCAGAACCCGGAGGAGGGCTTGTTAAAACACCGGCAGCTGGGCCCCACCCCCAGAGCGGTGATTCAGGAGCTCCAGGGCGGGGCTGAAGACTTGGGTTTCTAACAAGCACCCCAGTGGTCCGGTGCTGCTGCTGGGTCCATGCGTAGAAAGCCCTGGAGACCTGGAGGGAGCCCTTTGTTCCCCTGGCTTCAGTTTCCTCATCTGTAGAATGGAACGGTCCATCTGGGTGATTTCCAGGATGACAGTAGTGACAGTAAGGGCAGCCTCTGTGACACTGACCACAGTACAGGCCAGGCCTCTTTTTTTCTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTACAACCTCTGCCTCCTGGGCTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACTGTGCTTGGCTAATGTTTGTATTTTTGGTAGAGATGGGGTTTCACCGTCTTGGCCAGGCTGGTCGCAAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGTCAGGCCAGGCCTCTTTTGAACACTTTGCACACCATGGGTCTTTTCATCCAGGGGGGTAGGTACAGTTGTACAGTTGAGGACACTGAAGCCCAGAGAGGCTCAGGGACTTGCCCAGGGTCACACAGCAGGATGTGGCAGGTGTGGGGCTGGGCCTGGCAGCGTGGCTCCAGCTTTCCAGCATAGAAATCTGTGAAAGCAGATAGTTTGTCGGTCGGTAGGGGAGACTTTCTGAGACCCGCCCCAGCGGCTCAGAGGGTAGTAGCCAGGGGCCTTCCTGGGGGCTCATAACCCAGAACACTGAATGGGAAAACCCTGATGGAGGAGGCGCAGTGGAGCTGTGGGTGCCGATGGGAAGTCCCAGAGGAGCTGGGAGGTCAGTAGCGGTGCTGCCCTCTGTGGAGCACTTAGTGGGCACCAGGTGTGTTTCCAGGTTCATGGCCCTGGGACCTGAAGCTCAGAAGGTGAAGTAACTTGCCCAGGGCACCCGTCGGGCAGCGGCGGGCAGAGGATTTGTGGGCTGTGGAGCCTGTGCTCGTGGCCCAGCCCTGGGGGTTGTGAGTGTGCTGGCCGGGGAGCTTTTCCTGCAAGTGGACTGGTGTCTAGGAGCCAGCATGTCAGGCAGCAGGCAGCGGGAGTGCAGCAGGCAGCGGGAGCACAGCAGGCAGAGGGCGGGGCTCGAGCAGCCATCCGTGGACCCTGGGGCACGGAGGCATGTGGGAGAGGGCTGCTCCATGGCAGTGGCTGAAGGGCTGGGTTGTGCCCCGAGGAGGGTGGATGAGGGTAAGAAGTGGGGTCCCCAGGGGCTTTAGCAAGAGGAGGCCCAGGAACTGGTTGCCAGCTACAGTGAAGGGAACACGGCCCTGAGGTCAGGAGCTTGGTCAAGTCACTGTCTACATGGGCCTCGGTGTCCTCATCTGTGAAAAAGGAAGGGATGGGGAAGCTGACTCCAAGGCCCCTCCTAGCCCTGGTTTCATGAGTCTGAGGATCCCAGGGACATGGGCTTGGCAGTCTGACCTGTGAGGTCGTGGGGTCCAGGGAGGGGCACCGAGCTGGAAGCGGGAGGCAGAGGGGCTGGCCGGCTGGGTCAGACACAGCTGAAGCAGAGGCTGTGACTTGGGGCCTCAGAACCTTCACCCCTGAGCTGCCACCCCAGGATCTG
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Task1_train_16169
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Consider this mutation in LRP5 (LDL receptor related protein 5) on Chromosome 11. Is this a benign change or a disease-causing variant?
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Pathogenic; Autosomal dominant osteopetrosis 1
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CATCCTTGAGACCAGAAAGGTCTGGAACAAATGAGTAGACGATGCCCTAACCTGGGGAGGGAGCCACATCCTGATCCCAGCAACCTCAGGAAGGATCTGTCAGGATTATGGGGCACCCTGGGGGCCCCAAGTCTGCATGGGTCTCCACTTGCAATTTCTGTAGGAAGCTCTGATAAATCCAAACTGGGGGTCCTAGGACACAGTCAGAAATGCTGATACCGTTGTGTGTGGAGCCTCGGGCCCTGGGGGTCAGGAGCATGTGGAGGGTGGGCCACGGGGGTTCAGAAGAGAATCCTGTAACCCCCCACCCCCCAAACTGAAGCCCACTTGAGGGCCATGGCTGAAAGGTTGGGGGGTCTCCGTGCGTCCTGTGGAGTGGGTGGTGAGGAGTCCTTGGGTTTGCACGCCTCTGGGCCTGAGCGGCGGGACCCCGTCCACAGCGGATCCCTGGGCCCTGTTGCTCAGATGCTCTCAGAGTGTTGCTGTGGCCACGGAGGGAGCCTGAGTTAAGCTTCTCTTGTGCCGGTTGTACGCTGTCAGGTCACACTGGTGAGTTAGGCAGGGCACAGATGCCCAGAGCAGAGGGAACTTTCCTTGGGGATTCAACACGTGCAAGTCTTAGGGGCTGGCAAATCCTGCCCTCAGCTAGAGAGGGGGCTTTTATTTGAGACCAGAATCACCTGAGCATCCTCCTGTCCCCAGCTGTGTCCAGCCTGTCTGCAGGGACATCCTGAGAGGACCAGGCTCTCCCCTCATCCACCTGCCTAAGTGCCACTCTGAACCCTGTCCACCTGTGCCGTGGAGGGGCGTGACCTCAAGCTGCTCAGCCAGCAGCAGGCTTGGCCCTGGGGGGCAGCAGAGACCCAGGTGGCTGTGGGGTGGGTGCTTCGTGGCGTGGTTCTGAAACTTCGTTGGAAGTGTGTGGACAGTGCCTTGCCTGTTCTCTGTGGGACCCTATTTAGAAACGAGGTCTGAGTTACTGGGGGTCATCACTGTGTTCTGATGGCCCAGCTGTGTGGAGGCCGCGGTGCAGCCCCATCCAAGGAGCCAGGGCCCTGGGTCTAGCCGTGACCAGAATGCATGCCCCGGAGGTGTTTCTCATCTCGCACCTGTGTTGCCTGGTGTGTCAAGTGGTCGTGAAACTCTGTGTTAGCTCTTGGTGTTCCTGAAAGTGCCCCCGGGTCTCAGGCCTCAGAACCAGGGTTTCCCTTCATCTCGGTGGCCTGGGAGCATCTGGGCAGTTGAGCAAAGAGGGCGATTCACTTGAAGGGTGTGTCTGGCCCTGCCTAGGAGCCCCCCGGCACGGTGCTGGGGCCTGAAGCCGCCCTCGGGTGGTGGAGAGGAGGGAGCGATGAAGTGGCGTCGAGCTGGGCAGGAAGGGTGAGCCCCTGCAAGGTGGGCATGCTGGGGACGCTGAGCAGCATGGCCAGCAGCTGGGTCTGCAGCCTGGTACCCGGCGGGACTTGTGGTTGGGGCTGGTTTGTGGCCAGGAGAGGGGCTGGCAGGAGACAAGGGGGACTGTGAGGCAGCTCCCACCCAGCAGCTGAAGCCCAATGGCCTGGCTGTGTGGCTCTCAGCTGCGTGCATAACCTCTCAGTGCTTCAGTTCTCTCATTTGTAAAATGAGGAAACAAACAGTGCCAGCCTCCCAGAGGTGTCATGAGGATGAACGAGTGACCATGTAGCATGGGCTGGGTGCGTGTCACCTAACATCACCAGCCTTTGCAAGGAGAGCCCTGGGGGCCTGGCTGAGTATTTCCCTTGCCCGGCCCACCCCAGGCCTAGACTTGTGCCTGCTGCAGGCCCTTGACCCCTGACCCCATTGCACCTGTCTCCACAGGAGCCGAGGAGGTGCTGCTGCTGGCCCGGCGGACGGACCTACGGAGGATCTCGCTGGACACGCCGGACTTCACCGACATCGTGCTGCAGGTGGACGACATCCGGCACGCCATTGCCATCGACTACGACCCGCTAGAGGGCTATGTCTACTGGACAGATGACGAGGTGCGGGCCATCCGCAGGGCGTACCTGGACGGGTCTGGGGCGCAGACGCTGGTCAACACCGAGATCAACGACCCCGATGGCATCGCGGTCGACTGGGTGGCCCGAAACCTCTACTGGACCGACACGGGCACGGACCGCATCGAGGTGACGCGCCTCAACGGCACCTCCCGCAAGATCCTGGTGTCGGAGGACCTGGACGAGCCCCGAGCCATCGCACTGCACCCCGTGATGGGGTAAGACGGGCGGGGGCTGGGGCCTGGAGCCAGGGCCAGGCCAAGCACAGGCGAGAGGGAGATTGACCTGGACCTGTCATTCTGGGACACTGTCTTGCATCAGAACCCGGAGGAGGGCTTGTTAAAACACCGGCAGCTGGGCCCCACCCCCAGAGCGGTGATTCAGGAGCTCCAGGGCGGGGCTGAAGACTTGGGTTTCTAACAAGCACCCCAGTGGTCCGGTGCTGCTGCTGGGTCCATGCGTAGAAAGCCCTGGAGACCTGGAGGGAGCCCTTTGTTCCCCTGGCTTCAGTTTCCTCATCTGTAGAATGGAACGGTCCATCTGGGTGATTTCCAGGATGACAGTAGTGACAGTAAGGGCAGCCTCTGTGACACTGACCACAGTACAGGCCAGGCCTCTTTTTTTCTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTACAACCTCTGCCTCCTGGGCTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACTGTGCTTGGCTAATGTTTGTATTTTTGGTAGAGATGGGGTTTCACCGTCTTGGCCAGGCTGGTCGCAAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGTCAGGCCAGGCCTCTTTTGAACACTTTGCACACCATGGGTCTTTTCATCCAGGGGGGTAGGTACAGTTGTACAGTTGAGGACACTGAAGCCCAGAGAGGCTCAGGGACTTGCCCAGGGTCACACAGCAGGATGTGGCAGGTGTGGGGCTGGGCCTGGCAGCGTGGCTCCAGCTTTCCAGCATAGAAATCTGTGAAAGCAGATAGTTTGTCGGTCGGTAGGGGAGACTTTCTGAGACCCGCCCCAGCGGCTCAGAGGGTAGTAGCCAGGGGCCTTCCTGGGGGCTCATAACCCAGAACACTGAATGGGAAAACCCTGATGGAGGAGGCGCAGTGGAGCTGTGGGTGCCGATGGGAAGTCCCAGAGGAGCTGGGAGGTCAGTAGCGGTGCTGCCCTCTGTGGAGCACTTAGTGGGCACCAGGTGTGTTTCCAGGTTCATGGCCCTGGGACCTGAAGCTCAGAAGGTGAAGTAACTTGCCCAGGGCACCCGTCGGGCAGCGGCGGGCAGAGGATTTGTGGGCTGTGGAGCCTGTGCTCGTGGCCCAGCCCTGGGGGTTGTGAGTGTGCTGGCCGGGGAGCTTTTCCTGCAAGTGGACTGGTGTCTAGGAGCCAGCATGTCAGGCAGCAGGCAGCGGGAGTGCAGCAGGCAGCGGGAGCACAGCAGGCAGAGGGCGGGGCTCGAGCAGCCATCCGTGGACCCTGGGGCACGGAGGCATGTGGGAGAGGGCTGCTCCATGGCAGTGGCTGAAGGGCTGGGTTGTGCCCCGAGGAGGGTGGATGAGGGTAAGAAGTGGGGTCCCCAGGGGCTTTAGCAAGAGGAGGCCCAGGAACTGGTTGCCAGCTACAGTGAAGGGAACACGGCCCTGAGGTCAGGAGCTTGGTCAAGTCACTGTCTACATGGGCCTCGGTGTCCTCATCTGTGAAAAAGGAAGGGATGGGGAAGCTGACTCCAAGGCCCCTCCTAGCCCTGGTTTCATGAGTCTGAGGATCCCAGGGACATGGGCTTGGCAGTCTGACCTGTGAGGTCGTGGGGTCCAGGGAGGGGCACCGAGCTGGAAGCGGGAGGCAGAGGGGCTGGCCGGCTGGGTCAGACACAGCTGAAGCAGAGGCTGTGACTTGGGGCCTCAGAACCTTCACCCCTGAGCTGCCACCCCAGGATCTG
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CATCCTTGAGACCAGAAAGGTCTGGAACAAATGAGTAGACGATGCCCTAACCTGGGGAGGGAGCCACATCCTGATCCCAGCAACCTCAGGAAGGATCTGTCAGGATTATGGGGCACCCTGGGGGCCCCAAGTCTGCATGGGTCTCCACTTGCAATTTCTGTAGGAAGCTCTGATAAATCCAAACTGGGGGTCCTAGGACACAGTCAGAAATGCTGATACCGTTGTGTGTGGAGCCTCGGGCCCTGGGGGTCAGGAGCATGTGGAGGGTGGGCCACGGGGGTTCAGAAGAGAATCCTGTAACCCCCCACCCCCCAAACTGAAGCCCACTTGAGGGCCATGGCTGAAAGGTTGGGGGGTCTCCGTGCGTCCTGTGGAGTGGGTGGTGAGGAGTCCTTGGGTTTGCACGCCTCTGGGCCTGAGCGGCGGGACCCCGTCCACAGCGGATCCCTGGGCCCTGTTGCTCAGATGCTCTCAGAGTGTTGCTGTGGCCACGGAGGGAGCCTGAGTTAAGCTTCTCTTGTGCCGGTTGTACGCTGTCAGGTCACACTGGTGAGTTAGGCAGGGCACAGATGCCCAGAGCAGAGGGAACTTTCCTTGGGGATTCAACACGTGCAAGTCTTAGGGGCTGGCAAATCCTGCCCTCAGCTAGAGAGGGGGCTTTTATTTGAGACCAGAATCACCTGAGCATCCTCCTGTCCCCAGCTGTGTCCAGCCTGTCTGCAGGGACATCCTGAGAGGACCAGGCTCTCCCCTCATCCACCTGCCTAAGTGCCACTCTGAACCCTGTCCACCTGTGCCGTGGAGGGGCGTGACCTCAAGCTGCTCAGCCAGCAGCAGGCTTGGCCCTGGGGGGCAGCAGAGACCCAGGTGGCTGTGGGGTGGGTGCTTCGTGGCGTGGTTCTGAAACTTCGTTGGAAGTGTGTGGACAGTGCCTTGCCTGTTCTCTGTGGGACCCTATTTAGAAACGAGGTCTGAGTTACTGGGGGTCATCACTGTGTTCTGATGGCCCAGCTGTGTGGAGGCCGCGGTGCAGCCCCATCCAAGGAGCCAGGGCCCTGGGTCTAGCCGTGACCAGAATGCATGCCCCGGAGGTGTTTCTCATCTCGCACCTGTGTTGCCTGGTGTGTCAAGTGGTCGTGAAACTCTGTGTTAGCTCTTGGTGTTCCTGAAAGTGCCCCCGGGTCTCAGGCCTCAGAACCAGGGTTTCCCTTCATCTCGGTGGCCTGGGAGCATCTGGGCAGTTGAGCAAAGAGGGCGATTCACTTGAAGGGTGTGTCTGGCCCTGCCTAGGAGCCCCCCGGCACGGTGCTGGGGCCTGAAGCCGCCCTCGGGTGGTGGAGAGGAGGGAGCGATGAAGTGGCGTCGAGCTGGGCAGGAAGGGTGAGCCCCTGCAAGGTGGGCATGCTGGGGACGCTGAGCAGCATGGCCAGCAGCTGGGTCTGCAGCCTGGTACCCGGCGGGACTTGTGGTTGGGGCTGGTTTGTGGCCAGGAGAGGGGCTGGCAGGAGACAAGGGGGACTGTGAGGCAGCTCCCACCCAGCAGCTGAAGCCCAATGGCCTGGCTGTGTGGCTCTCAGCTGCGTGCATAACCTCTCAGTGCTTCAGTTCTCTCATTTGTAAAATGAGGAAACAAACAGTGCCAGCCTCCCAGAGGTGTCATGAGGATGAACGAGTGACCATGTAGCATGGGCTGGGTGCGTGTCACCTAACATCACCAGCCTTTGCAAGGAGAGCCCTGGGGGCCTGGCTGAGTATTTCCCTTGCCCGGCCCACCCCAGGCCTAGACTTGTGCCTGCTGCAGGCCCTTGACCCCTGACCCCATTGCACCTGTCTCCACAGGAGCCGAGGAGGTGCTGCTGCTGGCCCGGCGGACGGACCTACGGAGGATCTCGCTGGACACGCCGGACTTCACCGACATCGTGCTGCAGGTGGACGACATCCGGCACGCCATTGCCATCGACTACGACCCGCTAGAGGGCTATGTCTACTGGACAGATGACGAGGTGCGGGCCATCCGCAGGGCGTACCTGGACGGGTCTGGGGCGCAGGCGCTGGTCAACACCGAGATCAACGACCCCGATGGCATCGCGGTCGACTGGGTGGCCCGAAACCTCTACTGGACCGACACGGGCACGGACCGCATCGAGGTGACGCGCCTCAACGGCACCTCCCGCAAGATCCTGGTGTCGGAGGACCTGGACGAGCCCCGAGCCATCGCACTGCACCCCGTGATGGGGTAAGACGGGCGGGGGCTGGGGCCTGGAGCCAGGGCCAGGCCAAGCACAGGCGAGAGGGAGATTGACCTGGACCTGTCATTCTGGGACACTGTCTTGCATCAGAACCCGGAGGAGGGCTTGTTAAAACACCGGCAGCTGGGCCCCACCCCCAGAGCGGTGATTCAGGAGCTCCAGGGCGGGGCTGAAGACTTGGGTTTCTAACAAGCACCCCAGTGGTCCGGTGCTGCTGCTGGGTCCATGCGTAGAAAGCCCTGGAGACCTGGAGGGAGCCCTTTGTTCCCCTGGCTTCAGTTTCCTCATCTGTAGAATGGAACGGTCCATCTGGGTGATTTCCAGGATGACAGTAGTGACAGTAAGGGCAGCCTCTGTGACACTGACCACAGTACAGGCCAGGCCTCTTTTTTTCTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTACAACCTCTGCCTCCTGGGCTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACTGTGCTTGGCTAATGTTTGTATTTTTGGTAGAGATGGGGTTTCACCGTCTTGGCCAGGCTGGTCGCAAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGTCAGGCCAGGCCTCTTTTGAACACTTTGCACACCATGGGTCTTTTCATCCAGGGGGGTAGGTACAGTTGTACAGTTGAGGACACTGAAGCCCAGAGAGGCTCAGGGACTTGCCCAGGGTCACACAGCAGGATGTGGCAGGTGTGGGGCTGGGCCTGGCAGCGTGGCTCCAGCTTTCCAGCATAGAAATCTGTGAAAGCAGATAGTTTGTCGGTCGGTAGGGGAGACTTTCTGAGACCCGCCCCAGCGGCTCAGAGGGTAGTAGCCAGGGGCCTTCCTGGGGGCTCATAACCCAGAACACTGAATGGGAAAACCCTGATGGAGGAGGCGCAGTGGAGCTGTGGGTGCCGATGGGAAGTCCCAGAGGAGCTGGGAGGTCAGTAGCGGTGCTGCCCTCTGTGGAGCACTTAGTGGGCACCAGGTGTGTTTCCAGGTTCATGGCCCTGGGACCTGAAGCTCAGAAGGTGAAGTAACTTGCCCAGGGCACCCGTCGGGCAGCGGCGGGCAGAGGATTTGTGGGCTGTGGAGCCTGTGCTCGTGGCCCAGCCCTGGGGGTTGTGAGTGTGCTGGCCGGGGAGCTTTTCCTGCAAGTGGACTGGTGTCTAGGAGCCAGCATGTCAGGCAGCAGGCAGCGGGAGTGCAGCAGGCAGCGGGAGCACAGCAGGCAGAGGGCGGGGCTCGAGCAGCCATCCGTGGACCCTGGGGCACGGAGGCATGTGGGAGAGGGCTGCTCCATGGCAGTGGCTGAAGGGCTGGGTTGTGCCCCGAGGAGGGTGGATGAGGGTAAGAAGTGGGGTCCCCAGGGGCTTTAGCAAGAGGAGGCCCAGGAACTGGTTGCCAGCTACAGTGAAGGGAACACGGCCCTGAGGTCAGGAGCTTGGTCAAGTCACTGTCTACATGGGCCTCGGTGTCCTCATCTGTGAAAAAGGAAGGGATGGGGAAGCTGACTCCAAGGCCCCTCCTAGCCCTGGTTTCATGAGTCTGAGGATCCCAGGGACATGGGCTTGGCAGTCTGACCTGTGAGGTCGTGGGGTCCAGGGAGGGGCACCGAGCTGGAAGCGGGAGGCAGAGGGGCTGGCCGGCTGGGTCAGACACAGCTGAAGCAGAGGCTGTGACTTGGGGCCTCAGAACCTTCACCCCTGAGCTGCCACCCCAGGATCTG
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Task1_train_16170
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This variant affects the gene LRP5 (LDL receptor related protein 5) found on Chromosome 11. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Polycystic liver disease 4 with or without kidney cysts
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CATCCTTGAGACCAGAAAGGTCTGGAACAAATGAGTAGACGATGCCCTAACCTGGGGAGGGAGCCACATCCTGATCCCAGCAACCTCAGGAAGGATCTGTCAGGATTATGGGGCACCCTGGGGGCCCCAAGTCTGCATGGGTCTCCACTTGCAATTTCTGTAGGAAGCTCTGATAAATCCAAACTGGGGGTCCTAGGACACAGTCAGAAATGCTGATACCGTTGTGTGTGGAGCCTCGGGCCCTGGGGGTCAGGAGCATGTGGAGGGTGGGCCACGGGGGTTCAGAAGAGAATCCTGTAACCCCCCACCCCCCAAACTGAAGCCCACTTGAGGGCCATGGCTGAAAGGTTGGGGGGTCTCCGTGCGTCCTGTGGAGTGGGTGGTGAGGAGTCCTTGGGTTTGCACGCCTCTGGGCCTGAGCGGCGGGACCCCGTCCACAGCGGATCCCTGGGCCCTGTTGCTCAGATGCTCTCAGAGTGTTGCTGTGGCCACGGAGGGAGCCTGAGTTAAGCTTCTCTTGTGCCGGTTGTACGCTGTCAGGTCACACTGGTGAGTTAGGCAGGGCACAGATGCCCAGAGCAGAGGGAACTTTCCTTGGGGATTCAACACGTGCAAGTCTTAGGGGCTGGCAAATCCTGCCCTCAGCTAGAGAGGGGGCTTTTATTTGAGACCAGAATCACCTGAGCATCCTCCTGTCCCCAGCTGTGTCCAGCCTGTCTGCAGGGACATCCTGAGAGGACCAGGCTCTCCCCTCATCCACCTGCCTAAGTGCCACTCTGAACCCTGTCCACCTGTGCCGTGGAGGGGCGTGACCTCAAGCTGCTCAGCCAGCAGCAGGCTTGGCCCTGGGGGGCAGCAGAGACCCAGGTGGCTGTGGGGTGGGTGCTTCGTGGCGTGGTTCTGAAACTTCGTTGGAAGTGTGTGGACAGTGCCTTGCCTGTTCTCTGTGGGACCCTATTTAGAAACGAGGTCTGAGTTACTGGGGGTCATCACTGTGTTCTGATGGCCCAGCTGTGTGGAGGCCGCGGTGCAGCCCCATCCAAGGAGCCAGGGCCCTGGGTCTAGCCGTGACCAGAATGCATGCCCCGGAGGTGTTTCTCATCTCGCACCTGTGTTGCCTGGTGTGTCAAGTGGTCGTGAAACTCTGTGTTAGCTCTTGGTGTTCCTGAAAGTGCCCCCGGGTCTCAGGCCTCAGAACCAGGGTTTCCCTTCATCTCGGTGGCCTGGGAGCATCTGGGCAGTTGAGCAAAGAGGGCGATTCACTTGAAGGGTGTGTCTGGCCCTGCCTAGGAGCCCCCCGGCACGGTGCTGGGGCCTGAAGCCGCCCTCGGGTGGTGGAGAGGAGGGAGCGATGAAGTGGCGTCGAGCTGGGCAGGAAGGGTGAGCCCCTGCAAGGTGGGCATGCTGGGGACGCTGAGCAGCATGGCCAGCAGCTGGGTCTGCAGCCTGGTACCCGGCGGGACTTGTGGTTGGGGCTGGTTTGTGGCCAGGAGAGGGGCTGGCAGGAGACAAGGGGGACTGTGAGGCAGCTCCCACCCAGCAGCTGAAGCCCAATGGCCTGGCTGTGTGGCTCTCAGCTGCGTGCATAACCTCTCAGTGCTTCAGTTCTCTCATTTGTAAAATGAGGAAACAAACAGTGCCAGCCTCCCAGAGGTGTCATGAGGATGAACGAGTGACCATGTAGCATGGGCTGGGTGCGTGTCACCTAACATCACCAGCCTTTGCAAGGAGAGCCCTGGGGGCCTGGCTGAGTATTTCCCTTGCCCGGCCCACCCCAGGCCTAGACTTGTGCCTGCTGCAGGCCCTTGACCCCTGACCCCATTGCACCTGTCTCCACAGGAGCCGAGGAGGTGCTGCTGCTGGCCCGGCGGACGGACCTACGGAGGATCTCGCTGGACACGCCGGACTTCACCGACATCGTGCTGCAGGTGGACGACATCCGGCACGCCATTGCCATCGACTACGACCCGCTAGAGGGCTATGTCTACTGGACAGATGACGAGGTGCGGGCCATCCGCAGGGCGTACCTGGACGGGTCTGGGGCGCAGACGCTGGTCAACACCGAGATCAACGACCCCGATGGCATCGCGGTCGACTGGGTGGCCCGAAACCTCTACTGGACCGACACGGGCACGGACCGCATCGAGGTGACGCGCCTCAACGGCACCTCCCGCAAGATCCTGGTGTCGGAGGACCTGGACGAGCCCCGAGCCATCGCACTGCACCCCGTGATGGGGTAAGACGGGCGGGGGCTGGGGCCTGGAGCCAGGGCCAGGCCAAGCACAGGCGAGAGGGAGATTGACCTGGACCTGTCATTCTGGGACACTGTCTTGCATCAGAACCCGGAGGAGGGCTTGTTAAAACACCGGCAGCTGGGCCCCACCCCCAGAGCGGTGATTCAGGAGCTCCAGGGCGGGGCTGAAGACTTGGGTTTCTAACAAGCACCCCAGTGGTCCGGTGCTGCTGCTGGGTCCATGCGTAGAAAGCCCTGGAGACCTGGAGGGAGCCCTTTGTTCCCCTGGCTTCAGTTTCCTCATCTGTAGAATGGAACGGTCCATCTGGGTGATTTCCAGGATGACAGTAGTGACAGTAAGGGCAGCCTCTGTGACACTGACCACAGTACAGGCCAGGCCTCTTTTTTTCTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTACAACCTCTGCCTCCTGGGCTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACTGTGCTTGGCTAATGTTTGTATTTTTGGTAGAGATGGGGTTTCACCGTCTTGGCCAGGCTGGTCGCAAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGTCAGGCCAGGCCTCTTTTGAACACTTTGCACACCATGGGTCTTTTCATCCAGGGGGGTAGGTACAGTTGTACAGTTGAGGACACTGAAGCCCAGAGAGGCTCAGGGACTTGCCCAGGGTCACACAGCAGGATGTGGCAGGTGTGGGGCTGGGCCTGGCAGCGTGGCTCCAGCTTTCCAGCATAGAAATCTGTGAAAGCAGATAGTTTGTCGGTCGGTAGGGGAGACTTTCTGAGACCCGCCCCAGCGGCTCAGAGGGTAGTAGCCAGGGGCCTTCCTGGGGGCTCATAACCCAGAACACTGAATGGGAAAACCCTGATGGAGGAGGCGCAGTGGAGCTGTGGGTGCCGATGGGAAGTCCCAGAGGAGCTGGGAGGTCAGTAGCGGTGCTGCCCTCTGTGGAGCACTTAGTGGGCACCAGGTGTGTTTCCAGGTTCATGGCCCTGGGACCTGAAGCTCAGAAGGTGAAGTAACTTGCCCAGGGCACCCGTCGGGCAGCGGCGGGCAGAGGATTTGTGGGCTGTGGAGCCTGTGCTCGTGGCCCAGCCCTGGGGGTTGTGAGTGTGCTGGCCGGGGAGCTTTTCCTGCAAGTGGACTGGTGTCTAGGAGCCAGCATGTCAGGCAGCAGGCAGCGGGAGTGCAGCAGGCAGCGGGAGCACAGCAGGCAGAGGGCGGGGCTCGAGCAGCCATCCGTGGACCCTGGGGCACGGAGGCATGTGGGAGAGGGCTGCTCCATGGCAGTGGCTGAAGGGCTGGGTTGTGCCCCGAGGAGGGTGGATGAGGGTAAGAAGTGGGGTCCCCAGGGGCTTTAGCAAGAGGAGGCCCAGGAACTGGTTGCCAGCTACAGTGAAGGGAACACGGCCCTGAGGTCAGGAGCTTGGTCAAGTCACTGTCTACATGGGCCTCGGTGTCCTCATCTGTGAAAAAGGAAGGGATGGGGAAGCTGACTCCAAGGCCCCTCCTAGCCCTGGTTTCATGAGTCTGAGGATCCCAGGGACATGGGCTTGGCAGTCTGACCTGTGAGGTCGTGGGGTCCAGGGAGGGGCACCGAGCTGGAAGCGGGAGGCAGAGGGGCTGGCCGGCTGGGTCAGACACAGCTGAAGCAGAGGCTGTGACTTGGGGCCTCAGAACCTTCACCCCTGAGCTGCCACCCCAGGATCTG
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CATCCTTGAGACCAGAAAGGTCTGGAACAAATGAGTAGACGATGCCCTAACCTGGGGAGGGAGCCACATCCTGATCCCAGCAACCTCAGGAAGGATCTGTCAGGATTATGGGGCACCCTGGGGGCCCCAAGTCTGCATGGGTCTCCACTTGCAATTTCTGTAGGAAGCTCTGATAAATCCAAACTGGGGGTCCTAGGACACAGTCAGAAATGCTGATACCGTTGTGTGTGGAGCCTCGGGCCCTGGGGGTCAGGAGCATGTGGAGGGTGGGCCACGGGGGTTCAGAAGAGAATCCTGTAACCCCCCACCCCCCAAACTGAAGCCCACTTGAGGGCCATGGCTGAAAGGTTGGGGGGTCTCCGTGCGTCCTGTGGAGTGGGTGGTGAGGAGTCCTTGGGTTTGCACGCCTCTGGGCCTGAGCGGCGGGACCCCGTCCACAGCGGATCCCTGGGCCCTGTTGCTCAGATGCTCTCAGAGTGTTGCTGTGGCCACGGAGGGAGCCTGAGTTAAGCTTCTCTTGTGCCGGTTGTACGCTGTCAGGTCACACTGGTGAGTTAGGCAGGGCACAGATGCCCAGAGCAGAGGGAACTTTCCTTGGGGATTCAACACGTGCAAGTCTTAGGGGCTGGCAAATCCTGCCCTCAGCTAGAGAGGGGGCTTTTATTTGAGACCAGAATCACCTGAGCATCCTCCTGTCCCCAGCTGTGTCCAGCCTGTCTGCAGGGACATCCTGAGAGGACCAGGCTCTCCCCTCATCCACCTGCCTAAGTGCCACTCTGAACCCTGTCCACCTGTGCCGTGGAGGGGCGTGACCTCAAGCTGCTCAGCCAGCAGCAGGCTTGGCCCTGGGGGGCAGCAGAGACCCAGGTGGCTGTGGGGTGGGTGCTTCGTGGCGTGGTTCTGAAACTTCGTTGGAAGTGTGTGGACAGTGCCTTGCCTGTTCTCTGTGGGACCCTATTTAGAAACGAGGTCTGAGTTACTGGGGGTCATCACTGTGTTCTGATGGCCCAGCTGTGTGGAGGCCGCGGTGCAGCCCCATCCAAGGAGCCAGGGCCCTGGGTCTAGCCGTGACCAGAATGCATGCCCCGGAGGTGTTTCTCATCTCGCACCTGTGTTGCCTGGTGTGTCAAGTGGTCGTGAAACTCTGTGTTAGCTCTTGGTGTTCCTGAAAGTGCCCCCGGGTCTCAGGCCTCAGAACCAGGGTTTCCCTTCATCTCGGTGGCCTGGGAGCATCTGGGCAGTTGAGCAAAGAGGGCGATTCACTTGAAGGGTGTGTCTGGCCCTGCCTAGGAGCCCCCCGGCACGGTGCTGGGGCCTGAAGCCGCCCTCGGGTGGTGGAGAGGAGGGAGCGATGAAGTGGCGTCGAGCTGGGCAGGAAGGGTGAGCCCCTGCAAGGTGGGCATGCTGGGGACGCTGAGCAGCATGGCCAGCAGCTGGGTCTGCAGCCTGGTACCCGGCGGGACTTGTGGTTGGGGCTGGTTTGTGGCCAGGAGAGGGGCTGGCAGGAGACAAGGGGGACTGTGAGGCAGCTCCCACCCAGCAGCTGAAGCCCAATGGCCTGGCTGTGTGGCTCTCAGCTGCGTGCATAACCTCTCAGTGCTTCAGTTCTCTCATTTGTAAAATGAGGAAACAAACAGTGCCAGCCTCCCAGAGGTGTCATGAGGATGAACGAGTGACCATGTAGCATGGGCTGGGTGCGTGTCACCTAACATCACCAGCCTTTGCAAGGAGAGCCCTGGGGGCCTGGCTGAGTATTTCCCTTGCCCGGCCCACCCCAGGCCTAGACTTGTGCCTGCTGCAGGCCCTTGACCCCTGACCCCATTGCACCTGTCTCCACAGGAGCCGAGGAGGTGCTGCTGCTGGCCCGGCGGACGGACCTACGGAGGATCTCGCTGGACACGCCGGACTTCACCGACATCGTGCTGCAGGTGGACGACATCCGGCACGCCATTGCCATCGACTACGACCCGCTAGAGGGCTATGTCTACTGGACAGATGACGAGGTGCGGGCCATCCGCAGGGCGTACCTGGACGGGTCTGGGGCGCAGGCGCTGGTCAACACCGAGATCAACGACCCCGATGGCATCGCGGTCGACTGGGTGGCCCGAAACCTCTACTGGACCGACACGGGCACGGACCGCATCGAGGTGACGCGCCTCAACGGCACCTCCCGCAAGATCCTGGTGTCGGAGGACCTGGACGAGCCCCGAGCCATCGCACTGCACCCCGTGATGGGGTAAGACGGGCGGGGGCTGGGGCCTGGAGCCAGGGCCAGGCCAAGCACAGGCGAGAGGGAGATTGACCTGGACCTGTCATTCTGGGACACTGTCTTGCATCAGAACCCGGAGGAGGGCTTGTTAAAACACCGGCAGCTGGGCCCCACCCCCAGAGCGGTGATTCAGGAGCTCCAGGGCGGGGCTGAAGACTTGGGTTTCTAACAAGCACCCCAGTGGTCCGGTGCTGCTGCTGGGTCCATGCGTAGAAAGCCCTGGAGACCTGGAGGGAGCCCTTTGTTCCCCTGGCTTCAGTTTCCTCATCTGTAGAATGGAACGGTCCATCTGGGTGATTTCCAGGATGACAGTAGTGACAGTAAGGGCAGCCTCTGTGACACTGACCACAGTACAGGCCAGGCCTCTTTTTTTCTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTACAACCTCTGCCTCCTGGGCTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACTGTGCTTGGCTAATGTTTGTATTTTTGGTAGAGATGGGGTTTCACCGTCTTGGCCAGGCTGGTCGCAAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGTCAGGCCAGGCCTCTTTTGAACACTTTGCACACCATGGGTCTTTTCATCCAGGGGGGTAGGTACAGTTGTACAGTTGAGGACACTGAAGCCCAGAGAGGCTCAGGGACTTGCCCAGGGTCACACAGCAGGATGTGGCAGGTGTGGGGCTGGGCCTGGCAGCGTGGCTCCAGCTTTCCAGCATAGAAATCTGTGAAAGCAGATAGTTTGTCGGTCGGTAGGGGAGACTTTCTGAGACCCGCCCCAGCGGCTCAGAGGGTAGTAGCCAGGGGCCTTCCTGGGGGCTCATAACCCAGAACACTGAATGGGAAAACCCTGATGGAGGAGGCGCAGTGGAGCTGTGGGTGCCGATGGGAAGTCCCAGAGGAGCTGGGAGGTCAGTAGCGGTGCTGCCCTCTGTGGAGCACTTAGTGGGCACCAGGTGTGTTTCCAGGTTCATGGCCCTGGGACCTGAAGCTCAGAAGGTGAAGTAACTTGCCCAGGGCACCCGTCGGGCAGCGGCGGGCAGAGGATTTGTGGGCTGTGGAGCCTGTGCTCGTGGCCCAGCCCTGGGGGTTGTGAGTGTGCTGGCCGGGGAGCTTTTCCTGCAAGTGGACTGGTGTCTAGGAGCCAGCATGTCAGGCAGCAGGCAGCGGGAGTGCAGCAGGCAGCGGGAGCACAGCAGGCAGAGGGCGGGGCTCGAGCAGCCATCCGTGGACCCTGGGGCACGGAGGCATGTGGGAGAGGGCTGCTCCATGGCAGTGGCTGAAGGGCTGGGTTGTGCCCCGAGGAGGGTGGATGAGGGTAAGAAGTGGGGTCCCCAGGGGCTTTAGCAAGAGGAGGCCCAGGAACTGGTTGCCAGCTACAGTGAAGGGAACACGGCCCTGAGGTCAGGAGCTTGGTCAAGTCACTGTCTACATGGGCCTCGGTGTCCTCATCTGTGAAAAAGGAAGGGATGGGGAAGCTGACTCCAAGGCCCCTCCTAGCCCTGGTTTCATGAGTCTGAGGATCCCAGGGACATGGGCTTGGCAGTCTGACCTGTGAGGTCGTGGGGTCCAGGGAGGGGCACCGAGCTGGAAGCGGGAGGCAGAGGGGCTGGCCGGCTGGGTCAGACACAGCTGAAGCAGAGGCTGTGACTTGGGGCCTCAGAACCTTCACCCCTGAGCTGCCACCCCAGGATCTG
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Task1_train_16171
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Gene LRP5 (LDL receptor related protein 5) on Chromosome 11 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Osteoporosis with pseudoglioma
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CATCCTTGAGACCAGAAAGGTCTGGAACAAATGAGTAGACGATGCCCTAACCTGGGGAGGGAGCCACATCCTGATCCCAGCAACCTCAGGAAGGATCTGTCAGGATTATGGGGCACCCTGGGGGCCCCAAGTCTGCATGGGTCTCCACTTGCAATTTCTGTAGGAAGCTCTGATAAATCCAAACTGGGGGTCCTAGGACACAGTCAGAAATGCTGATACCGTTGTGTGTGGAGCCTCGGGCCCTGGGGGTCAGGAGCATGTGGAGGGTGGGCCACGGGGGTTCAGAAGAGAATCCTGTAACCCCCCACCCCCCAAACTGAAGCCCACTTGAGGGCCATGGCTGAAAGGTTGGGGGGTCTCCGTGCGTCCTGTGGAGTGGGTGGTGAGGAGTCCTTGGGTTTGCACGCCTCTGGGCCTGAGCGGCGGGACCCCGTCCACAGCGGATCCCTGGGCCCTGTTGCTCAGATGCTCTCAGAGTGTTGCTGTGGCCACGGAGGGAGCCTGAGTTAAGCTTCTCTTGTGCCGGTTGTACGCTGTCAGGTCACACTGGTGAGTTAGGCAGGGCACAGATGCCCAGAGCAGAGGGAACTTTCCTTGGGGATTCAACACGTGCAAGTCTTAGGGGCTGGCAAATCCTGCCCTCAGCTAGAGAGGGGGCTTTTATTTGAGACCAGAATCACCTGAGCATCCTCCTGTCCCCAGCTGTGTCCAGCCTGTCTGCAGGGACATCCTGAGAGGACCAGGCTCTCCCCTCATCCACCTGCCTAAGTGCCACTCTGAACCCTGTCCACCTGTGCCGTGGAGGGGCGTGACCTCAAGCTGCTCAGCCAGCAGCAGGCTTGGCCCTGGGGGGCAGCAGAGACCCAGGTGGCTGTGGGGTGGGTGCTTCGTGGCGTGGTTCTGAAACTTCGTTGGAAGTGTGTGGACAGTGCCTTGCCTGTTCTCTGTGGGACCCTATTTAGAAACGAGGTCTGAGTTACTGGGGGTCATCACTGTGTTCTGATGGCCCAGCTGTGTGGAGGCCGCGGTGCAGCCCCATCCAAGGAGCCAGGGCCCTGGGTCTAGCCGTGACCAGAATGCATGCCCCGGAGGTGTTTCTCATCTCGCACCTGTGTTGCCTGGTGTGTCAAGTGGTCGTGAAACTCTGTGTTAGCTCTTGGTGTTCCTGAAAGTGCCCCCGGGTCTCAGGCCTCAGAACCAGGGTTTCCCTTCATCTCGGTGGCCTGGGAGCATCTGGGCAGTTGAGCAAAGAGGGCGATTCACTTGAAGGGTGTGTCTGGCCCTGCCTAGGAGCCCCCCGGCACGGTGCTGGGGCCTGAAGCCGCCCTCGGGTGGTGGAGAGGAGGGAGCGATGAAGTGGCGTCGAGCTGGGCAGGAAGGGTGAGCCCCTGCAAGGTGGGCATGCTGGGGACGCTGAGCAGCATGGCCAGCAGCTGGGTCTGCAGCCTGGTACCCGGCGGGACTTGTGGTTGGGGCTGGTTTGTGGCCAGGAGAGGGGCTGGCAGGAGACAAGGGGGACTGTGAGGCAGCTCCCACCCAGCAGCTGAAGCCCAATGGCCTGGCTGTGTGGCTCTCAGCTGCGTGCATAACCTCTCAGTGCTTCAGTTCTCTCATTTGTAAAATGAGGAAACAAACAGTGCCAGCCTCCCAGAGGTGTCATGAGGATGAACGAGTGACCATGTAGCATGGGCTGGGTGCGTGTCACCTAACATCACCAGCCTTTGCAAGGAGAGCCCTGGGGGCCTGGCTGAGTATTTCCCTTGCCCGGCCCACCCCAGGCCTAGACTTGTGCCTGCTGCAGGCCCTTGACCCCTGACCCCATTGCACCTGTCTCCACAGGAGCCGAGGAGGTGCTGCTGCTGGCCCGGCGGACGGACCTACGGAGGATCTCGCTGGACACGCCGGACTTCACCGACATCGTGCTGCAGGTGGACGACATCCGGCACGCCATTGCCATCGACTACGACCCGCTAGAGGGCTATGTCTACTGGACAGATGACGAGGTGCGGGCCATCCGCAGGGCGTACCTGGACGGGTCTGGGGCGCAGACGCTGGTCAACACCGAGATCAACGACCCCGATGGCATCGCGGTCGACTGGGTGGCCCGAAACCTCTACTGGACCGACACGGGCACGGACCGCATCGAGGTGACGCGCCTCAACGGCACCTCCCGCAAGATCCTGGTGTCGGAGGACCTGGACGAGCCCCGAGCCATCGCACTGCACCCCGTGATGGGGTAAGACGGGCGGGGGCTGGGGCCTGGAGCCAGGGCCAGGCCAAGCACAGGCGAGAGGGAGATTGACCTGGACCTGTCATTCTGGGACACTGTCTTGCATCAGAACCCGGAGGAGGGCTTGTTAAAACACCGGCAGCTGGGCCCCACCCCCAGAGCGGTGATTCAGGAGCTCCAGGGCGGGGCTGAAGACTTGGGTTTCTAACAAGCACCCCAGTGGTCCGGTGCTGCTGCTGGGTCCATGCGTAGAAAGCCCTGGAGACCTGGAGGGAGCCCTTTGTTCCCCTGGCTTCAGTTTCCTCATCTGTAGAATGGAACGGTCCATCTGGGTGATTTCCAGGATGACAGTAGTGACAGTAAGGGCAGCCTCTGTGACACTGACCACAGTACAGGCCAGGCCTCTTTTTTTCTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTACAACCTCTGCCTCCTGGGCTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACTGTGCTTGGCTAATGTTTGTATTTTTGGTAGAGATGGGGTTTCACCGTCTTGGCCAGGCTGGTCGCAAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGTCAGGCCAGGCCTCTTTTGAACACTTTGCACACCATGGGTCTTTTCATCCAGGGGGGTAGGTACAGTTGTACAGTTGAGGACACTGAAGCCCAGAGAGGCTCAGGGACTTGCCCAGGGTCACACAGCAGGATGTGGCAGGTGTGGGGCTGGGCCTGGCAGCGTGGCTCCAGCTTTCCAGCATAGAAATCTGTGAAAGCAGATAGTTTGTCGGTCGGTAGGGGAGACTTTCTGAGACCCGCCCCAGCGGCTCAGAGGGTAGTAGCCAGGGGCCTTCCTGGGGGCTCATAACCCAGAACACTGAATGGGAAAACCCTGATGGAGGAGGCGCAGTGGAGCTGTGGGTGCCGATGGGAAGTCCCAGAGGAGCTGGGAGGTCAGTAGCGGTGCTGCCCTCTGTGGAGCACTTAGTGGGCACCAGGTGTGTTTCCAGGTTCATGGCCCTGGGACCTGAAGCTCAGAAGGTGAAGTAACTTGCCCAGGGCACCCGTCGGGCAGCGGCGGGCAGAGGATTTGTGGGCTGTGGAGCCTGTGCTCGTGGCCCAGCCCTGGGGGTTGTGAGTGTGCTGGCCGGGGAGCTTTTCCTGCAAGTGGACTGGTGTCTAGGAGCCAGCATGTCAGGCAGCAGGCAGCGGGAGTGCAGCAGGCAGCGGGAGCACAGCAGGCAGAGGGCGGGGCTCGAGCAGCCATCCGTGGACCCTGGGGCACGGAGGCATGTGGGAGAGGGCTGCTCCATGGCAGTGGCTGAAGGGCTGGGTTGTGCCCCGAGGAGGGTGGATGAGGGTAAGAAGTGGGGTCCCCAGGGGCTTTAGCAAGAGGAGGCCCAGGAACTGGTTGCCAGCTACAGTGAAGGGAACACGGCCCTGAGGTCAGGAGCTTGGTCAAGTCACTGTCTACATGGGCCTCGGTGTCCTCATCTGTGAAAAAGGAAGGGATGGGGAAGCTGACTCCAAGGCCCCTCCTAGCCCTGGTTTCATGAGTCTGAGGATCCCAGGGACATGGGCTTGGCAGTCTGACCTGTGAGGTCGTGGGGTCCAGGGAGGGGCACCGAGCTGGAAGCGGGAGGCAGAGGGGCTGGCCGGCTGGGTCAGACACAGCTGAAGCAGAGGCTGTGACTTGGGGCCTCAGAACCTTCACCCCTGAGCTGCCACCCCAGGATCTG
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CATCCTTGAGACCAGAAAGGTCTGGAACAAATGAGTAGACGATGCCCTAACCTGGGGAGGGAGCCACATCCTGATCCCAGCAACCTCAGGAAGGATCTGTCAGGATTATGGGGCACCCTGGGGGCCCCAAGTCTGCATGGGTCTCCACTTGCAATTTCTGTAGGAAGCTCTGATAAATCCAAACTGGGGGTCCTAGGACACAGTCAGAAATGCTGATACCGTTGTGTGTGGAGCCTCGGGCCCTGGGGGTCAGGAGCATGTGGAGGGTGGGCCACGGGGGTTCAGAAGAGAATCCTGTAACCCCCCACCCCCCAAACTGAAGCCCACTTGAGGGCCATGGCTGAAAGGTTGGGGGGTCTCCGTGCGTCCTGTGGAGTGGGTGGTGAGGAGTCCTTGGGTTTGCACGCCTCTGGGCCTGAGCGGCGGGACCCCGTCCACAGCGGATCCCTGGGCCCTGTTGCTCAGATGCTCTCAGAGTGTTGCTGTGGCCACGGAGGGAGCCTGAGTTAAGCTTCTCTTGTGCCGGTTGTACGCTGTCAGGTCACACTGGTGAGTTAGGCAGGGCACAGATGCCCAGAGCAGAGGGAACTTTCCTTGGGGATTCAACACGTGCAAGTCTTAGGGGCTGGCAAATCCTGCCCTCAGCTAGAGAGGGGGCTTTTATTTGAGACCAGAATCACCTGAGCATCCTCCTGTCCCCAGCTGTGTCCAGCCTGTCTGCAGGGACATCCTGAGAGGACCAGGCTCTCCCCTCATCCACCTGCCTAAGTGCCACTCTGAACCCTGTCCACCTGTGCCGTGGAGGGGCGTGACCTCAAGCTGCTCAGCCAGCAGCAGGCTTGGCCCTGGGGGGCAGCAGAGACCCAGGTGGCTGTGGGGTGGGTGCTTCGTGGCGTGGTTCTGAAACTTCGTTGGAAGTGTGTGGACAGTGCCTTGCCTGTTCTCTGTGGGACCCTATTTAGAAACGAGGTCTGAGTTACTGGGGGTCATCACTGTGTTCTGATGGCCCAGCTGTGTGGAGGCCGCGGTGCAGCCCCATCCAAGGAGCCAGGGCCCTGGGTCTAGCCGTGACCAGAATGCATGCCCCGGAGGTGTTTCTCATCTCGCACCTGTGTTGCCTGGTGTGTCAAGTGGTCGTGAAACTCTGTGTTAGCTCTTGGTGTTCCTGAAAGTGCCCCCGGGTCTCAGGCCTCAGAACCAGGGTTTCCCTTCATCTCGGTGGCCTGGGAGCATCTGGGCAGTTGAGCAAAGAGGGCGATTCACTTGAAGGGTGTGTCTGGCCCTGCCTAGGAGCCCCCCGGCACGGTGCTGGGGCCTGAAGCCGCCCTCGGGTGGTGGAGAGGAGGGAGCGATGAAGTGGCGTCGAGCTGGGCAGGAAGGGTGAGCCCCTGCAAGGTGGGCATGCTGGGGACGCTGAGCAGCATGGCCAGCAGCTGGGTCTGCAGCCTGGTACCCGGCGGGACTTGTGGTTGGGGCTGGTTTGTGGCCAGGAGAGGGGCTGGCAGGAGACAAGGGGGACTGTGAGGCAGCTCCCACCCAGCAGCTGAAGCCCAATGGCCTGGCTGTGTGGCTCTCAGCTGCGTGCATAACCTCTCAGTGCTTCAGTTCTCTCATTTGTAAAATGAGGAAACAAACAGTGCCAGCCTCCCAGAGGTGTCATGAGGATGAACGAGTGACCATGTAGCATGGGCTGGGTGCGTGTCACCTAACATCACCAGCCTTTGCAAGGAGAGCCCTGGGGGCCTGGCTGAGTATTTCCCTTGCCCGGCCCACCCCAGGCCTAGACTTGTGCCTGCTGCAGGCCCTTGACCCCTGACCCCATTGCACCTGTCTCCACAGGAGCCGAGGAGGTGCTGCTGCTGGCCCGGCGGACGGACCTACGGAGGATCTCGCTGGACACGCCGGACTTCACCGACATCGTGCTGCAGGTGGACGACATCCGGCACGCCATTGCCATCGACTACGACCCGCTAGAGGGCTATGTCTACTGGACAGATGACGAGGTGCGGGCCATCCGCAGGGCGTACCTGGACGGGTCTGGGGCGCAGGCGCTGGTCAACACCGAGATCAACGACCCCGATGGCATCGCGGTCGACTGGGTGGCCCGAAACCTCTACTGGACCGACACGGGCACGGACCGCATCGAGGTGACGCGCCTCAACGGCACCTCCCGCAAGATCCTGGTGTCGGAGGACCTGGACGAGCCCCGAGCCATCGCACTGCACCCCGTGATGGGGTAAGACGGGCGGGGGCTGGGGCCTGGAGCCAGGGCCAGGCCAAGCACAGGCGAGAGGGAGATTGACCTGGACCTGTCATTCTGGGACACTGTCTTGCATCAGAACCCGGAGGAGGGCTTGTTAAAACACCGGCAGCTGGGCCCCACCCCCAGAGCGGTGATTCAGGAGCTCCAGGGCGGGGCTGAAGACTTGGGTTTCTAACAAGCACCCCAGTGGTCCGGTGCTGCTGCTGGGTCCATGCGTAGAAAGCCCTGGAGACCTGGAGGGAGCCCTTTGTTCCCCTGGCTTCAGTTTCCTCATCTGTAGAATGGAACGGTCCATCTGGGTGATTTCCAGGATGACAGTAGTGACAGTAAGGGCAGCCTCTGTGACACTGACCACAGTACAGGCCAGGCCTCTTTTTTTCTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTACAACCTCTGCCTCCTGGGCTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACTGTGCTTGGCTAATGTTTGTATTTTTGGTAGAGATGGGGTTTCACCGTCTTGGCCAGGCTGGTCGCAAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGTCAGGCCAGGCCTCTTTTGAACACTTTGCACACCATGGGTCTTTTCATCCAGGGGGGTAGGTACAGTTGTACAGTTGAGGACACTGAAGCCCAGAGAGGCTCAGGGACTTGCCCAGGGTCACACAGCAGGATGTGGCAGGTGTGGGGCTGGGCCTGGCAGCGTGGCTCCAGCTTTCCAGCATAGAAATCTGTGAAAGCAGATAGTTTGTCGGTCGGTAGGGGAGACTTTCTGAGACCCGCCCCAGCGGCTCAGAGGGTAGTAGCCAGGGGCCTTCCTGGGGGCTCATAACCCAGAACACTGAATGGGAAAACCCTGATGGAGGAGGCGCAGTGGAGCTGTGGGTGCCGATGGGAAGTCCCAGAGGAGCTGGGAGGTCAGTAGCGGTGCTGCCCTCTGTGGAGCACTTAGTGGGCACCAGGTGTGTTTCCAGGTTCATGGCCCTGGGACCTGAAGCTCAGAAGGTGAAGTAACTTGCCCAGGGCACCCGTCGGGCAGCGGCGGGCAGAGGATTTGTGGGCTGTGGAGCCTGTGCTCGTGGCCCAGCCCTGGGGGTTGTGAGTGTGCTGGCCGGGGAGCTTTTCCTGCAAGTGGACTGGTGTCTAGGAGCCAGCATGTCAGGCAGCAGGCAGCGGGAGTGCAGCAGGCAGCGGGAGCACAGCAGGCAGAGGGCGGGGCTCGAGCAGCCATCCGTGGACCCTGGGGCACGGAGGCATGTGGGAGAGGGCTGCTCCATGGCAGTGGCTGAAGGGCTGGGTTGTGCCCCGAGGAGGGTGGATGAGGGTAAGAAGTGGGGTCCCCAGGGGCTTTAGCAAGAGGAGGCCCAGGAACTGGTTGCCAGCTACAGTGAAGGGAACACGGCCCTGAGGTCAGGAGCTTGGTCAAGTCACTGTCTACATGGGCCTCGGTGTCCTCATCTGTGAAAAAGGAAGGGATGGGGAAGCTGACTCCAAGGCCCCTCCTAGCCCTGGTTTCATGAGTCTGAGGATCCCAGGGACATGGGCTTGGCAGTCTGACCTGTGAGGTCGTGGGGTCCAGGGAGGGGCACCGAGCTGGAAGCGGGAGGCAGAGGGGCTGGCCGGCTGGGTCAGACACAGCTGAAGCAGAGGCTGTGACTTGGGGCCTCAGAACCTTCACCCCTGAGCTGCCACCCCAGGATCTG
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Task1_train_16172
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A variant was discovered in gene LRP5 (LDL receptor related protein 5), Chromosome 11. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Worth disease
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CCCAGCAACCTCAGGAAGGATCTGTCAGGATTATGGGGCACCCTGGGGGCCCCAAGTCTGCATGGGTCTCCACTTGCAATTTCTGTAGGAAGCTCTGATAAATCCAAACTGGGGGTCCTAGGACACAGTCAGAAATGCTGATACCGTTGTGTGTGGAGCCTCGGGCCCTGGGGGTCAGGAGCATGTGGAGGGTGGGCCACGGGGGTTCAGAAGAGAATCCTGTAACCCCCCACCCCCCAAACTGAAGCCCACTTGAGGGCCATGGCTGAAAGGTTGGGGGGTCTCCGTGCGTCCTGTGGAGTGGGTGGTGAGGAGTCCTTGGGTTTGCACGCCTCTGGGCCTGAGCGGCGGGACCCCGTCCACAGCGGATCCCTGGGCCCTGTTGCTCAGATGCTCTCAGAGTGTTGCTGTGGCCACGGAGGGAGCCTGAGTTAAGCTTCTCTTGTGCCGGTTGTACGCTGTCAGGTCACACTGGTGAGTTAGGCAGGGCACAGATGCCCAGAGCAGAGGGAACTTTCCTTGGGGATTCAACACGTGCAAGTCTTAGGGGCTGGCAAATCCTGCCCTCAGCTAGAGAGGGGGCTTTTATTTGAGACCAGAATCACCTGAGCATCCTCCTGTCCCCAGCTGTGTCCAGCCTGTCTGCAGGGACATCCTGAGAGGACCAGGCTCTCCCCTCATCCACCTGCCTAAGTGCCACTCTGAACCCTGTCCACCTGTGCCGTGGAGGGGCGTGACCTCAAGCTGCTCAGCCAGCAGCAGGCTTGGCCCTGGGGGGCAGCAGAGACCCAGGTGGCTGTGGGGTGGGTGCTTCGTGGCGTGGTTCTGAAACTTCGTTGGAAGTGTGTGGACAGTGCCTTGCCTGTTCTCTGTGGGACCCTATTTAGAAACGAGGTCTGAGTTACTGGGGGTCATCACTGTGTTCTGATGGCCCAGCTGTGTGGAGGCCGCGGTGCAGCCCCATCCAAGGAGCCAGGGCCCTGGGTCTAGCCGTGACCAGAATGCATGCCCCGGAGGTGTTTCTCATCTCGCACCTGTGTTGCCTGGTGTGTCAAGTGGTCGTGAAACTCTGTGTTAGCTCTTGGTGTTCCTGAAAGTGCCCCCGGGTCTCAGGCCTCAGAACCAGGGTTTCCCTTCATCTCGGTGGCCTGGGAGCATCTGGGCAGTTGAGCAAAGAGGGCGATTCACTTGAAGGGTGTGTCTGGCCCTGCCTAGGAGCCCCCCGGCACGGTGCTGGGGCCTGAAGCCGCCCTCGGGTGGTGGAGAGGAGGGAGCGATGAAGTGGCGTCGAGCTGGGCAGGAAGGGTGAGCCCCTGCAAGGTGGGCATGCTGGGGACGCTGAGCAGCATGGCCAGCAGCTGGGTCTGCAGCCTGGTACCCGGCGGGACTTGTGGTTGGGGCTGGTTTGTGGCCAGGAGAGGGGCTGGCAGGAGACAAGGGGGACTGTGAGGCAGCTCCCACCCAGCAGCTGAAGCCCAATGGCCTGGCTGTGTGGCTCTCAGCTGCGTGCATAACCTCTCAGTGCTTCAGTTCTCTCATTTGTAAAATGAGGAAACAAACAGTGCCAGCCTCCCAGAGGTGTCATGAGGATGAACGAGTGACCATGTAGCATGGGCTGGGTGCGTGTCACCTAACATCACCAGCCTTTGCAAGGAGAGCCCTGGGGGCCTGGCTGAGTATTTCCCTTGCCCGGCCCACCCCAGGCCTAGACTTGTGCCTGCTGCAGGCCCTTGACCCCTGACCCCATTGCACCTGTCTCCACAGGAGCCGAGGAGGTGCTGCTGCTGGCCCGGCGGACGGACCTACGGAGGATCTCGCTGGACACGCCGGACTTCACCGACATCGTGCTGCAGGTGGACGACATCCGGCACGCCATTGCCATCGACTACGACCCGCTAGAGGGCTATGTCTACTGGACAGATGACGAGGTGCGGGCCATCCGCAGGGCGTACCTGGACGGGTCTGGGGCGCAGACGCTGGTCAACACCGAGATCAACGACCCCGATGGCATCGCGGTCGACTGGGTGGCCCGAAACCTCTACTGGACCGACACGGGCACGGACCGCATCGAGGTGACGCGCCTCAACGGCACCTCCCGCAAGATCCTGGTGTCGGAGGACCTGGACGAGCCCCGAGCCATCGCACTGCACCCCGTGATGGGGTAAGACGGGCGGGGGCTGGGGCCTGGAGCCAGGGCCAGGCCAAGCACAGGCGAGAGGGAGATTGACCTGGACCTGTCATTCTGGGACACTGTCTTGCATCAGAACCCGGAGGAGGGCTTGTTAAAACACCGGCAGCTGGGCCCCACCCCCAGAGCGGTGATTCAGGAGCTCCAGGGCGGGGCTGAAGACTTGGGTTTCTAACAAGCACCCCAGTGGTCCGGTGCTGCTGCTGGGTCCATGCGTAGAAAGCCCTGGAGACCTGGAGGGAGCCCTTTGTTCCCCTGGCTTCAGTTTCCTCATCTGTAGAATGGAACGGTCCATCTGGGTGATTTCCAGGATGACAGTAGTGACAGTAAGGGCAGCCTCTGTGACACTGACCACAGTACAGGCCAGGCCTCTTTTTTTCTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTACAACCTCTGCCTCCTGGGCTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACTGTGCTTGGCTAATGTTTGTATTTTTGGTAGAGATGGGGTTTCACCGTCTTGGCCAGGCTGGTCGCAAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGTCAGGCCAGGCCTCTTTTGAACACTTTGCACACCATGGGTCTTTTCATCCAGGGGGGTAGGTACAGTTGTACAGTTGAGGACACTGAAGCCCAGAGAGGCTCAGGGACTTGCCCAGGGTCACACAGCAGGATGTGGCAGGTGTGGGGCTGGGCCTGGCAGCGTGGCTCCAGCTTTCCAGCATAGAAATCTGTGAAAGCAGATAGTTTGTCGGTCGGTAGGGGAGACTTTCTGAGACCCGCCCCAGCGGCTCAGAGGGTAGTAGCCAGGGGCCTTCCTGGGGGCTCATAACCCAGAACACTGAATGGGAAAACCCTGATGGAGGAGGCGCAGTGGAGCTGTGGGTGCCGATGGGAAGTCCCAGAGGAGCTGGGAGGTCAGTAGCGGTGCTGCCCTCTGTGGAGCACTTAGTGGGCACCAGGTGTGTTTCCAGGTTCATGGCCCTGGGACCTGAAGCTCAGAAGGTGAAGTAACTTGCCCAGGGCACCCGTCGGGCAGCGGCGGGCAGAGGATTTGTGGGCTGTGGAGCCTGTGCTCGTGGCCCAGCCCTGGGGGTTGTGAGTGTGCTGGCCGGGGAGCTTTTCCTGCAAGTGGACTGGTGTCTAGGAGCCAGCATGTCAGGCAGCAGGCAGCGGGAGTGCAGCAGGCAGCGGGAGCACAGCAGGCAGAGGGCGGGGCTCGAGCAGCCATCCGTGGACCCTGGGGCACGGAGGCATGTGGGAGAGGGCTGCTCCATGGCAGTGGCTGAAGGGCTGGGTTGTGCCCCGAGGAGGGTGGATGAGGGTAAGAAGTGGGGTCCCCAGGGGCTTTAGCAAGAGGAGGCCCAGGAACTGGTTGCCAGCTACAGTGAAGGGAACACGGCCCTGAGGTCAGGAGCTTGGTCAAGTCACTGTCTACATGGGCCTCGGTGTCCTCATCTGTGAAAAAGGAAGGGATGGGGAAGCTGACTCCAAGGCCCCTCCTAGCCCTGGTTTCATGAGTCTGAGGATCCCAGGGACATGGGCTTGGCAGTCTGACCTGTGAGGTCGTGGGGTCCAGGGAGGGGCACCGAGCTGGAAGCGGGAGGCAGAGGGGCTGGCCGGCTGGGTCAGACACAGCTGAAGCAGAGGCTGTGACTTGGGGCCTCAGAACCTTCACCCCTGAGCTGCCACCCCAGGATCTGGGTTCCCTCCTTGGGGGGCCCCAGGGAACAAGTCACCTGTCCTTTGCATAGGGGAGCCCTTCAGCTATGTGCAGA
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CCCAGCAACCTCAGGAAGGATCTGTCAGGATTATGGGGCACCCTGGGGGCCCCAAGTCTGCATGGGTCTCCACTTGCAATTTCTGTAGGAAGCTCTGATAAATCCAAACTGGGGGTCCTAGGACACAGTCAGAAATGCTGATACCGTTGTGTGTGGAGCCTCGGGCCCTGGGGGTCAGGAGCATGTGGAGGGTGGGCCACGGGGGTTCAGAAGAGAATCCTGTAACCCCCCACCCCCCAAACTGAAGCCCACTTGAGGGCCATGGCTGAAAGGTTGGGGGGTCTCCGTGCGTCCTGTGGAGTGGGTGGTGAGGAGTCCTTGGGTTTGCACGCCTCTGGGCCTGAGCGGCGGGACCCCGTCCACAGCGGATCCCTGGGCCCTGTTGCTCAGATGCTCTCAGAGTGTTGCTGTGGCCACGGAGGGAGCCTGAGTTAAGCTTCTCTTGTGCCGGTTGTACGCTGTCAGGTCACACTGGTGAGTTAGGCAGGGCACAGATGCCCAGAGCAGAGGGAACTTTCCTTGGGGATTCAACACGTGCAAGTCTTAGGGGCTGGCAAATCCTGCCCTCAGCTAGAGAGGGGGCTTTTATTTGAGACCAGAATCACCTGAGCATCCTCCTGTCCCCAGCTGTGTCCAGCCTGTCTGCAGGGACATCCTGAGAGGACCAGGCTCTCCCCTCATCCACCTGCCTAAGTGCCACTCTGAACCCTGTCCACCTGTGCCGTGGAGGGGCGTGACCTCAAGCTGCTCAGCCAGCAGCAGGCTTGGCCCTGGGGGGCAGCAGAGACCCAGGTGGCTGTGGGGTGGGTGCTTCGTGGCGTGGTTCTGAAACTTCGTTGGAAGTGTGTGGACAGTGCCTTGCCTGTTCTCTGTGGGACCCTATTTAGAAACGAGGTCTGAGTTACTGGGGGTCATCACTGTGTTCTGATGGCCCAGCTGTGTGGAGGCCGCGGTGCAGCCCCATCCAAGGAGCCAGGGCCCTGGGTCTAGCCGTGACCAGAATGCATGCCCCGGAGGTGTTTCTCATCTCGCACCTGTGTTGCCTGGTGTGTCAAGTGGTCGTGAAACTCTGTGTTAGCTCTTGGTGTTCCTGAAAGTGCCCCCGGGTCTCAGGCCTCAGAACCAGGGTTTCCCTTCATCTCGGTGGCCTGGGAGCATCTGGGCAGTTGAGCAAAGAGGGCGATTCACTTGAAGGGTGTGTCTGGCCCTGCCTAGGAGCCCCCCGGCACGGTGCTGGGGCCTGAAGCCGCCCTCGGGTGGTGGAGAGGAGGGAGCGATGAAGTGGCGTCGAGCTGGGCAGGAAGGGTGAGCCCCTGCAAGGTGGGCATGCTGGGGACGCTGAGCAGCATGGCCAGCAGCTGGGTCTGCAGCCTGGTACCCGGCGGGACTTGTGGTTGGGGCTGGTTTGTGGCCAGGAGAGGGGCTGGCAGGAGACAAGGGGGACTGTGAGGCAGCTCCCACCCAGCAGCTGAAGCCCAATGGCCTGGCTGTGTGGCTCTCAGCTGCGTGCATAACCTCTCAGTGCTTCAGTTCTCTCATTTGTAAAATGAGGAAACAAACAGTGCCAGCCTCCCAGAGGTGTCATGAGGATGAACGAGTGACCATGTAGCATGGGCTGGGTGCGTGTCACCTAACATCACCAGCCTTTGCAAGGAGAGCCCTGGGGGCCTGGCTGAGTATTTCCCTTGCCCGGCCCACCCCAGGCCTAGACTTGTGCCTGCTGCAGGCCCTTGACCCCTGACCCCATTGCACCTGTCTCCACAGGAGCCGAGGAGGTGCTGCTGCTGGCCCGGCGGACGGACCTACGGAGGATCTCGCTGGACACGCCGGACTTCACCGACATCGTGCTGCAGGTGGACGACATCCGGCACGCCATTGCCATCGACTACGACCCGCTAGAGGGCTATGTCTACTGGACAGATGACGAGGTGCGGGCCATCCGCAGGGCGTACCTGGACGGGTCTGGGGCGCAGACGCTGGTCAACACCGAGATCAACGACCCCGATGGCATCGCGGTCGACTGGGTGGCCCGAAACCTCTACTGGACCAACACGGGCACGGACCGCATCGAGGTGACGCGCCTCAACGGCACCTCCCGCAAGATCCTGGTGTCGGAGGACCTGGACGAGCCCCGAGCCATCGCACTGCACCCCGTGATGGGGTAAGACGGGCGGGGGCTGGGGCCTGGAGCCAGGGCCAGGCCAAGCACAGGCGAGAGGGAGATTGACCTGGACCTGTCATTCTGGGACACTGTCTTGCATCAGAACCCGGAGGAGGGCTTGTTAAAACACCGGCAGCTGGGCCCCACCCCCAGAGCGGTGATTCAGGAGCTCCAGGGCGGGGCTGAAGACTTGGGTTTCTAACAAGCACCCCAGTGGTCCGGTGCTGCTGCTGGGTCCATGCGTAGAAAGCCCTGGAGACCTGGAGGGAGCCCTTTGTTCCCCTGGCTTCAGTTTCCTCATCTGTAGAATGGAACGGTCCATCTGGGTGATTTCCAGGATGACAGTAGTGACAGTAAGGGCAGCCTCTGTGACACTGACCACAGTACAGGCCAGGCCTCTTTTTTTCTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTACAACCTCTGCCTCCTGGGCTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACTGTGCTTGGCTAATGTTTGTATTTTTGGTAGAGATGGGGTTTCACCGTCTTGGCCAGGCTGGTCGCAAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGTCAGGCCAGGCCTCTTTTGAACACTTTGCACACCATGGGTCTTTTCATCCAGGGGGGTAGGTACAGTTGTACAGTTGAGGACACTGAAGCCCAGAGAGGCTCAGGGACTTGCCCAGGGTCACACAGCAGGATGTGGCAGGTGTGGGGCTGGGCCTGGCAGCGTGGCTCCAGCTTTCCAGCATAGAAATCTGTGAAAGCAGATAGTTTGTCGGTCGGTAGGGGAGACTTTCTGAGACCCGCCCCAGCGGCTCAGAGGGTAGTAGCCAGGGGCCTTCCTGGGGGCTCATAACCCAGAACACTGAATGGGAAAACCCTGATGGAGGAGGCGCAGTGGAGCTGTGGGTGCCGATGGGAAGTCCCAGAGGAGCTGGGAGGTCAGTAGCGGTGCTGCCCTCTGTGGAGCACTTAGTGGGCACCAGGTGTGTTTCCAGGTTCATGGCCCTGGGACCTGAAGCTCAGAAGGTGAAGTAACTTGCCCAGGGCACCCGTCGGGCAGCGGCGGGCAGAGGATTTGTGGGCTGTGGAGCCTGTGCTCGTGGCCCAGCCCTGGGGGTTGTGAGTGTGCTGGCCGGGGAGCTTTTCCTGCAAGTGGACTGGTGTCTAGGAGCCAGCATGTCAGGCAGCAGGCAGCGGGAGTGCAGCAGGCAGCGGGAGCACAGCAGGCAGAGGGCGGGGCTCGAGCAGCCATCCGTGGACCCTGGGGCACGGAGGCATGTGGGAGAGGGCTGCTCCATGGCAGTGGCTGAAGGGCTGGGTTGTGCCCCGAGGAGGGTGGATGAGGGTAAGAAGTGGGGTCCCCAGGGGCTTTAGCAAGAGGAGGCCCAGGAACTGGTTGCCAGCTACAGTGAAGGGAACACGGCCCTGAGGTCAGGAGCTTGGTCAAGTCACTGTCTACATGGGCCTCGGTGTCCTCATCTGTGAAAAAGGAAGGGATGGGGAAGCTGACTCCAAGGCCCCTCCTAGCCCTGGTTTCATGAGTCTGAGGATCCCAGGGACATGGGCTTGGCAGTCTGACCTGTGAGGTCGTGGGGTCCAGGGAGGGGCACCGAGCTGGAAGCGGGAGGCAGAGGGGCTGGCCGGCTGGGTCAGACACAGCTGAAGCAGAGGCTGTGACTTGGGGCCTCAGAACCTTCACCCCTGAGCTGCCACCCCAGGATCTGGGTTCCCTCCTTGGGGGGCCCCAGGGAACAAGTCACCTGTCCTTTGCATAGGGGAGCCCTTCAGCTATGTGCAGA
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Task1_train_16173
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Gene LRP5 (LDL receptor related protein 5) on Chromosome 11 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Bone mineral density quantitative trait locus 1
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CCCAGCAACCTCAGGAAGGATCTGTCAGGATTATGGGGCACCCTGGGGGCCCCAAGTCTGCATGGGTCTCCACTTGCAATTTCTGTAGGAAGCTCTGATAAATCCAAACTGGGGGTCCTAGGACACAGTCAGAAATGCTGATACCGTTGTGTGTGGAGCCTCGGGCCCTGGGGGTCAGGAGCATGTGGAGGGTGGGCCACGGGGGTTCAGAAGAGAATCCTGTAACCCCCCACCCCCCAAACTGAAGCCCACTTGAGGGCCATGGCTGAAAGGTTGGGGGGTCTCCGTGCGTCCTGTGGAGTGGGTGGTGAGGAGTCCTTGGGTTTGCACGCCTCTGGGCCTGAGCGGCGGGACCCCGTCCACAGCGGATCCCTGGGCCCTGTTGCTCAGATGCTCTCAGAGTGTTGCTGTGGCCACGGAGGGAGCCTGAGTTAAGCTTCTCTTGTGCCGGTTGTACGCTGTCAGGTCACACTGGTGAGTTAGGCAGGGCACAGATGCCCAGAGCAGAGGGAACTTTCCTTGGGGATTCAACACGTGCAAGTCTTAGGGGCTGGCAAATCCTGCCCTCAGCTAGAGAGGGGGCTTTTATTTGAGACCAGAATCACCTGAGCATCCTCCTGTCCCCAGCTGTGTCCAGCCTGTCTGCAGGGACATCCTGAGAGGACCAGGCTCTCCCCTCATCCACCTGCCTAAGTGCCACTCTGAACCCTGTCCACCTGTGCCGTGGAGGGGCGTGACCTCAAGCTGCTCAGCCAGCAGCAGGCTTGGCCCTGGGGGGCAGCAGAGACCCAGGTGGCTGTGGGGTGGGTGCTTCGTGGCGTGGTTCTGAAACTTCGTTGGAAGTGTGTGGACAGTGCCTTGCCTGTTCTCTGTGGGACCCTATTTAGAAACGAGGTCTGAGTTACTGGGGGTCATCACTGTGTTCTGATGGCCCAGCTGTGTGGAGGCCGCGGTGCAGCCCCATCCAAGGAGCCAGGGCCCTGGGTCTAGCCGTGACCAGAATGCATGCCCCGGAGGTGTTTCTCATCTCGCACCTGTGTTGCCTGGTGTGTCAAGTGGTCGTGAAACTCTGTGTTAGCTCTTGGTGTTCCTGAAAGTGCCCCCGGGTCTCAGGCCTCAGAACCAGGGTTTCCCTTCATCTCGGTGGCCTGGGAGCATCTGGGCAGTTGAGCAAAGAGGGCGATTCACTTGAAGGGTGTGTCTGGCCCTGCCTAGGAGCCCCCCGGCACGGTGCTGGGGCCTGAAGCCGCCCTCGGGTGGTGGAGAGGAGGGAGCGATGAAGTGGCGTCGAGCTGGGCAGGAAGGGTGAGCCCCTGCAAGGTGGGCATGCTGGGGACGCTGAGCAGCATGGCCAGCAGCTGGGTCTGCAGCCTGGTACCCGGCGGGACTTGTGGTTGGGGCTGGTTTGTGGCCAGGAGAGGGGCTGGCAGGAGACAAGGGGGACTGTGAGGCAGCTCCCACCCAGCAGCTGAAGCCCAATGGCCTGGCTGTGTGGCTCTCAGCTGCGTGCATAACCTCTCAGTGCTTCAGTTCTCTCATTTGTAAAATGAGGAAACAAACAGTGCCAGCCTCCCAGAGGTGTCATGAGGATGAACGAGTGACCATGTAGCATGGGCTGGGTGCGTGTCACCTAACATCACCAGCCTTTGCAAGGAGAGCCCTGGGGGCCTGGCTGAGTATTTCCCTTGCCCGGCCCACCCCAGGCCTAGACTTGTGCCTGCTGCAGGCCCTTGACCCCTGACCCCATTGCACCTGTCTCCACAGGAGCCGAGGAGGTGCTGCTGCTGGCCCGGCGGACGGACCTACGGAGGATCTCGCTGGACACGCCGGACTTCACCGACATCGTGCTGCAGGTGGACGACATCCGGCACGCCATTGCCATCGACTACGACCCGCTAGAGGGCTATGTCTACTGGACAGATGACGAGGTGCGGGCCATCCGCAGGGCGTACCTGGACGGGTCTGGGGCGCAGACGCTGGTCAACACCGAGATCAACGACCCCGATGGCATCGCGGTCGACTGGGTGGCCCGAAACCTCTACTGGACCGACACGGGCACGGACCGCATCGAGGTGACGCGCCTCAACGGCACCTCCCGCAAGATCCTGGTGTCGGAGGACCTGGACGAGCCCCGAGCCATCGCACTGCACCCCGTGATGGGGTAAGACGGGCGGGGGCTGGGGCCTGGAGCCAGGGCCAGGCCAAGCACAGGCGAGAGGGAGATTGACCTGGACCTGTCATTCTGGGACACTGTCTTGCATCAGAACCCGGAGGAGGGCTTGTTAAAACACCGGCAGCTGGGCCCCACCCCCAGAGCGGTGATTCAGGAGCTCCAGGGCGGGGCTGAAGACTTGGGTTTCTAACAAGCACCCCAGTGGTCCGGTGCTGCTGCTGGGTCCATGCGTAGAAAGCCCTGGAGACCTGGAGGGAGCCCTTTGTTCCCCTGGCTTCAGTTTCCTCATCTGTAGAATGGAACGGTCCATCTGGGTGATTTCCAGGATGACAGTAGTGACAGTAAGGGCAGCCTCTGTGACACTGACCACAGTACAGGCCAGGCCTCTTTTTTTCTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTACAACCTCTGCCTCCTGGGCTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACTGTGCTTGGCTAATGTTTGTATTTTTGGTAGAGATGGGGTTTCACCGTCTTGGCCAGGCTGGTCGCAAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGTCAGGCCAGGCCTCTTTTGAACACTTTGCACACCATGGGTCTTTTCATCCAGGGGGGTAGGTACAGTTGTACAGTTGAGGACACTGAAGCCCAGAGAGGCTCAGGGACTTGCCCAGGGTCACACAGCAGGATGTGGCAGGTGTGGGGCTGGGCCTGGCAGCGTGGCTCCAGCTTTCCAGCATAGAAATCTGTGAAAGCAGATAGTTTGTCGGTCGGTAGGGGAGACTTTCTGAGACCCGCCCCAGCGGCTCAGAGGGTAGTAGCCAGGGGCCTTCCTGGGGGCTCATAACCCAGAACACTGAATGGGAAAACCCTGATGGAGGAGGCGCAGTGGAGCTGTGGGTGCCGATGGGAAGTCCCAGAGGAGCTGGGAGGTCAGTAGCGGTGCTGCCCTCTGTGGAGCACTTAGTGGGCACCAGGTGTGTTTCCAGGTTCATGGCCCTGGGACCTGAAGCTCAGAAGGTGAAGTAACTTGCCCAGGGCACCCGTCGGGCAGCGGCGGGCAGAGGATTTGTGGGCTGTGGAGCCTGTGCTCGTGGCCCAGCCCTGGGGGTTGTGAGTGTGCTGGCCGGGGAGCTTTTCCTGCAAGTGGACTGGTGTCTAGGAGCCAGCATGTCAGGCAGCAGGCAGCGGGAGTGCAGCAGGCAGCGGGAGCACAGCAGGCAGAGGGCGGGGCTCGAGCAGCCATCCGTGGACCCTGGGGCACGGAGGCATGTGGGAGAGGGCTGCTCCATGGCAGTGGCTGAAGGGCTGGGTTGTGCCCCGAGGAGGGTGGATGAGGGTAAGAAGTGGGGTCCCCAGGGGCTTTAGCAAGAGGAGGCCCAGGAACTGGTTGCCAGCTACAGTGAAGGGAACACGGCCCTGAGGTCAGGAGCTTGGTCAAGTCACTGTCTACATGGGCCTCGGTGTCCTCATCTGTGAAAAAGGAAGGGATGGGGAAGCTGACTCCAAGGCCCCTCCTAGCCCTGGTTTCATGAGTCTGAGGATCCCAGGGACATGGGCTTGGCAGTCTGACCTGTGAGGTCGTGGGGTCCAGGGAGGGGCACCGAGCTGGAAGCGGGAGGCAGAGGGGCTGGCCGGCTGGGTCAGACACAGCTGAAGCAGAGGCTGTGACTTGGGGCCTCAGAACCTTCACCCCTGAGCTGCCACCCCAGGATCTGGGTTCCCTCCTTGGGGGGCCCCAGGGAACAAGTCACCTGTCCTTTGCATAGGGGAGCCCTTCAGCTATGTGCAGA
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CCCAGCAACCTCAGGAAGGATCTGTCAGGATTATGGGGCACCCTGGGGGCCCCAAGTCTGCATGGGTCTCCACTTGCAATTTCTGTAGGAAGCTCTGATAAATCCAAACTGGGGGTCCTAGGACACAGTCAGAAATGCTGATACCGTTGTGTGTGGAGCCTCGGGCCCTGGGGGTCAGGAGCATGTGGAGGGTGGGCCACGGGGGTTCAGAAGAGAATCCTGTAACCCCCCACCCCCCAAACTGAAGCCCACTTGAGGGCCATGGCTGAAAGGTTGGGGGGTCTCCGTGCGTCCTGTGGAGTGGGTGGTGAGGAGTCCTTGGGTTTGCACGCCTCTGGGCCTGAGCGGCGGGACCCCGTCCACAGCGGATCCCTGGGCCCTGTTGCTCAGATGCTCTCAGAGTGTTGCTGTGGCCACGGAGGGAGCCTGAGTTAAGCTTCTCTTGTGCCGGTTGTACGCTGTCAGGTCACACTGGTGAGTTAGGCAGGGCACAGATGCCCAGAGCAGAGGGAACTTTCCTTGGGGATTCAACACGTGCAAGTCTTAGGGGCTGGCAAATCCTGCCCTCAGCTAGAGAGGGGGCTTTTATTTGAGACCAGAATCACCTGAGCATCCTCCTGTCCCCAGCTGTGTCCAGCCTGTCTGCAGGGACATCCTGAGAGGACCAGGCTCTCCCCTCATCCACCTGCCTAAGTGCCACTCTGAACCCTGTCCACCTGTGCCGTGGAGGGGCGTGACCTCAAGCTGCTCAGCCAGCAGCAGGCTTGGCCCTGGGGGGCAGCAGAGACCCAGGTGGCTGTGGGGTGGGTGCTTCGTGGCGTGGTTCTGAAACTTCGTTGGAAGTGTGTGGACAGTGCCTTGCCTGTTCTCTGTGGGACCCTATTTAGAAACGAGGTCTGAGTTACTGGGGGTCATCACTGTGTTCTGATGGCCCAGCTGTGTGGAGGCCGCGGTGCAGCCCCATCCAAGGAGCCAGGGCCCTGGGTCTAGCCGTGACCAGAATGCATGCCCCGGAGGTGTTTCTCATCTCGCACCTGTGTTGCCTGGTGTGTCAAGTGGTCGTGAAACTCTGTGTTAGCTCTTGGTGTTCCTGAAAGTGCCCCCGGGTCTCAGGCCTCAGAACCAGGGTTTCCCTTCATCTCGGTGGCCTGGGAGCATCTGGGCAGTTGAGCAAAGAGGGCGATTCACTTGAAGGGTGTGTCTGGCCCTGCCTAGGAGCCCCCCGGCACGGTGCTGGGGCCTGAAGCCGCCCTCGGGTGGTGGAGAGGAGGGAGCGATGAAGTGGCGTCGAGCTGGGCAGGAAGGGTGAGCCCCTGCAAGGTGGGCATGCTGGGGACGCTGAGCAGCATGGCCAGCAGCTGGGTCTGCAGCCTGGTACCCGGCGGGACTTGTGGTTGGGGCTGGTTTGTGGCCAGGAGAGGGGCTGGCAGGAGACAAGGGGGACTGTGAGGCAGCTCCCACCCAGCAGCTGAAGCCCAATGGCCTGGCTGTGTGGCTCTCAGCTGCGTGCATAACCTCTCAGTGCTTCAGTTCTCTCATTTGTAAAATGAGGAAACAAACAGTGCCAGCCTCCCAGAGGTGTCATGAGGATGAACGAGTGACCATGTAGCATGGGCTGGGTGCGTGTCACCTAACATCACCAGCCTTTGCAAGGAGAGCCCTGGGGGCCTGGCTGAGTATTTCCCTTGCCCGGCCCACCCCAGGCCTAGACTTGTGCCTGCTGCAGGCCCTTGACCCCTGACCCCATTGCACCTGTCTCCACAGGAGCCGAGGAGGTGCTGCTGCTGGCCCGGCGGACGGACCTACGGAGGATCTCGCTGGACACGCCGGACTTCACCGACATCGTGCTGCAGGTGGACGACATCCGGCACGCCATTGCCATCGACTACGACCCGCTAGAGGGCTATGTCTACTGGACAGATGACGAGGTGCGGGCCATCCGCAGGGCGTACCTGGACGGGTCTGGGGCGCAGACGCTGGTCAACACCGAGATCAACGACCCCGATGGCATCGCGGTCGACTGGGTGGCCCGAAACCTCTACTGGACCAACACGGGCACGGACCGCATCGAGGTGACGCGCCTCAACGGCACCTCCCGCAAGATCCTGGTGTCGGAGGACCTGGACGAGCCCCGAGCCATCGCACTGCACCCCGTGATGGGGTAAGACGGGCGGGGGCTGGGGCCTGGAGCCAGGGCCAGGCCAAGCACAGGCGAGAGGGAGATTGACCTGGACCTGTCATTCTGGGACACTGTCTTGCATCAGAACCCGGAGGAGGGCTTGTTAAAACACCGGCAGCTGGGCCCCACCCCCAGAGCGGTGATTCAGGAGCTCCAGGGCGGGGCTGAAGACTTGGGTTTCTAACAAGCACCCCAGTGGTCCGGTGCTGCTGCTGGGTCCATGCGTAGAAAGCCCTGGAGACCTGGAGGGAGCCCTTTGTTCCCCTGGCTTCAGTTTCCTCATCTGTAGAATGGAACGGTCCATCTGGGTGATTTCCAGGATGACAGTAGTGACAGTAAGGGCAGCCTCTGTGACACTGACCACAGTACAGGCCAGGCCTCTTTTTTTCTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTACAACCTCTGCCTCCTGGGCTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACTGTGCTTGGCTAATGTTTGTATTTTTGGTAGAGATGGGGTTTCACCGTCTTGGCCAGGCTGGTCGCAAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGTCAGGCCAGGCCTCTTTTGAACACTTTGCACACCATGGGTCTTTTCATCCAGGGGGGTAGGTACAGTTGTACAGTTGAGGACACTGAAGCCCAGAGAGGCTCAGGGACTTGCCCAGGGTCACACAGCAGGATGTGGCAGGTGTGGGGCTGGGCCTGGCAGCGTGGCTCCAGCTTTCCAGCATAGAAATCTGTGAAAGCAGATAGTTTGTCGGTCGGTAGGGGAGACTTTCTGAGACCCGCCCCAGCGGCTCAGAGGGTAGTAGCCAGGGGCCTTCCTGGGGGCTCATAACCCAGAACACTGAATGGGAAAACCCTGATGGAGGAGGCGCAGTGGAGCTGTGGGTGCCGATGGGAAGTCCCAGAGGAGCTGGGAGGTCAGTAGCGGTGCTGCCCTCTGTGGAGCACTTAGTGGGCACCAGGTGTGTTTCCAGGTTCATGGCCCTGGGACCTGAAGCTCAGAAGGTGAAGTAACTTGCCCAGGGCACCCGTCGGGCAGCGGCGGGCAGAGGATTTGTGGGCTGTGGAGCCTGTGCTCGTGGCCCAGCCCTGGGGGTTGTGAGTGTGCTGGCCGGGGAGCTTTTCCTGCAAGTGGACTGGTGTCTAGGAGCCAGCATGTCAGGCAGCAGGCAGCGGGAGTGCAGCAGGCAGCGGGAGCACAGCAGGCAGAGGGCGGGGCTCGAGCAGCCATCCGTGGACCCTGGGGCACGGAGGCATGTGGGAGAGGGCTGCTCCATGGCAGTGGCTGAAGGGCTGGGTTGTGCCCCGAGGAGGGTGGATGAGGGTAAGAAGTGGGGTCCCCAGGGGCTTTAGCAAGAGGAGGCCCAGGAACTGGTTGCCAGCTACAGTGAAGGGAACACGGCCCTGAGGTCAGGAGCTTGGTCAAGTCACTGTCTACATGGGCCTCGGTGTCCTCATCTGTGAAAAAGGAAGGGATGGGGAAGCTGACTCCAAGGCCCCTCCTAGCCCTGGTTTCATGAGTCTGAGGATCCCAGGGACATGGGCTTGGCAGTCTGACCTGTGAGGTCGTGGGGTCCAGGGAGGGGCACCGAGCTGGAAGCGGGAGGCAGAGGGGCTGGCCGGCTGGGTCAGACACAGCTGAAGCAGAGGCTGTGACTTGGGGCCTCAGAACCTTCACCCCTGAGCTGCCACCCCAGGATCTGGGTTCCCTCCTTGGGGGGCCCCAGGGAACAAGTCACCTGTCCTTTGCATAGGGGAGCCCTTCAGCTATGTGCAGA
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Task1_train_16174
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Here is a genetic alteration in LRP5 (LDL receptor related protein 5) on Chromosome 11. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Autosomal dominant osteopetrosis 1
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CCCAGCAACCTCAGGAAGGATCTGTCAGGATTATGGGGCACCCTGGGGGCCCCAAGTCTGCATGGGTCTCCACTTGCAATTTCTGTAGGAAGCTCTGATAAATCCAAACTGGGGGTCCTAGGACACAGTCAGAAATGCTGATACCGTTGTGTGTGGAGCCTCGGGCCCTGGGGGTCAGGAGCATGTGGAGGGTGGGCCACGGGGGTTCAGAAGAGAATCCTGTAACCCCCCACCCCCCAAACTGAAGCCCACTTGAGGGCCATGGCTGAAAGGTTGGGGGGTCTCCGTGCGTCCTGTGGAGTGGGTGGTGAGGAGTCCTTGGGTTTGCACGCCTCTGGGCCTGAGCGGCGGGACCCCGTCCACAGCGGATCCCTGGGCCCTGTTGCTCAGATGCTCTCAGAGTGTTGCTGTGGCCACGGAGGGAGCCTGAGTTAAGCTTCTCTTGTGCCGGTTGTACGCTGTCAGGTCACACTGGTGAGTTAGGCAGGGCACAGATGCCCAGAGCAGAGGGAACTTTCCTTGGGGATTCAACACGTGCAAGTCTTAGGGGCTGGCAAATCCTGCCCTCAGCTAGAGAGGGGGCTTTTATTTGAGACCAGAATCACCTGAGCATCCTCCTGTCCCCAGCTGTGTCCAGCCTGTCTGCAGGGACATCCTGAGAGGACCAGGCTCTCCCCTCATCCACCTGCCTAAGTGCCACTCTGAACCCTGTCCACCTGTGCCGTGGAGGGGCGTGACCTCAAGCTGCTCAGCCAGCAGCAGGCTTGGCCCTGGGGGGCAGCAGAGACCCAGGTGGCTGTGGGGTGGGTGCTTCGTGGCGTGGTTCTGAAACTTCGTTGGAAGTGTGTGGACAGTGCCTTGCCTGTTCTCTGTGGGACCCTATTTAGAAACGAGGTCTGAGTTACTGGGGGTCATCACTGTGTTCTGATGGCCCAGCTGTGTGGAGGCCGCGGTGCAGCCCCATCCAAGGAGCCAGGGCCCTGGGTCTAGCCGTGACCAGAATGCATGCCCCGGAGGTGTTTCTCATCTCGCACCTGTGTTGCCTGGTGTGTCAAGTGGTCGTGAAACTCTGTGTTAGCTCTTGGTGTTCCTGAAAGTGCCCCCGGGTCTCAGGCCTCAGAACCAGGGTTTCCCTTCATCTCGGTGGCCTGGGAGCATCTGGGCAGTTGAGCAAAGAGGGCGATTCACTTGAAGGGTGTGTCTGGCCCTGCCTAGGAGCCCCCCGGCACGGTGCTGGGGCCTGAAGCCGCCCTCGGGTGGTGGAGAGGAGGGAGCGATGAAGTGGCGTCGAGCTGGGCAGGAAGGGTGAGCCCCTGCAAGGTGGGCATGCTGGGGACGCTGAGCAGCATGGCCAGCAGCTGGGTCTGCAGCCTGGTACCCGGCGGGACTTGTGGTTGGGGCTGGTTTGTGGCCAGGAGAGGGGCTGGCAGGAGACAAGGGGGACTGTGAGGCAGCTCCCACCCAGCAGCTGAAGCCCAATGGCCTGGCTGTGTGGCTCTCAGCTGCGTGCATAACCTCTCAGTGCTTCAGTTCTCTCATTTGTAAAATGAGGAAACAAACAGTGCCAGCCTCCCAGAGGTGTCATGAGGATGAACGAGTGACCATGTAGCATGGGCTGGGTGCGTGTCACCTAACATCACCAGCCTTTGCAAGGAGAGCCCTGGGGGCCTGGCTGAGTATTTCCCTTGCCCGGCCCACCCCAGGCCTAGACTTGTGCCTGCTGCAGGCCCTTGACCCCTGACCCCATTGCACCTGTCTCCACAGGAGCCGAGGAGGTGCTGCTGCTGGCCCGGCGGACGGACCTACGGAGGATCTCGCTGGACACGCCGGACTTCACCGACATCGTGCTGCAGGTGGACGACATCCGGCACGCCATTGCCATCGACTACGACCCGCTAGAGGGCTATGTCTACTGGACAGATGACGAGGTGCGGGCCATCCGCAGGGCGTACCTGGACGGGTCTGGGGCGCAGACGCTGGTCAACACCGAGATCAACGACCCCGATGGCATCGCGGTCGACTGGGTGGCCCGAAACCTCTACTGGACCGACACGGGCACGGACCGCATCGAGGTGACGCGCCTCAACGGCACCTCCCGCAAGATCCTGGTGTCGGAGGACCTGGACGAGCCCCGAGCCATCGCACTGCACCCCGTGATGGGGTAAGACGGGCGGGGGCTGGGGCCTGGAGCCAGGGCCAGGCCAAGCACAGGCGAGAGGGAGATTGACCTGGACCTGTCATTCTGGGACACTGTCTTGCATCAGAACCCGGAGGAGGGCTTGTTAAAACACCGGCAGCTGGGCCCCACCCCCAGAGCGGTGATTCAGGAGCTCCAGGGCGGGGCTGAAGACTTGGGTTTCTAACAAGCACCCCAGTGGTCCGGTGCTGCTGCTGGGTCCATGCGTAGAAAGCCCTGGAGACCTGGAGGGAGCCCTTTGTTCCCCTGGCTTCAGTTTCCTCATCTGTAGAATGGAACGGTCCATCTGGGTGATTTCCAGGATGACAGTAGTGACAGTAAGGGCAGCCTCTGTGACACTGACCACAGTACAGGCCAGGCCTCTTTTTTTCTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTACAACCTCTGCCTCCTGGGCTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACTGTGCTTGGCTAATGTTTGTATTTTTGGTAGAGATGGGGTTTCACCGTCTTGGCCAGGCTGGTCGCAAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGTCAGGCCAGGCCTCTTTTGAACACTTTGCACACCATGGGTCTTTTCATCCAGGGGGGTAGGTACAGTTGTACAGTTGAGGACACTGAAGCCCAGAGAGGCTCAGGGACTTGCCCAGGGTCACACAGCAGGATGTGGCAGGTGTGGGGCTGGGCCTGGCAGCGTGGCTCCAGCTTTCCAGCATAGAAATCTGTGAAAGCAGATAGTTTGTCGGTCGGTAGGGGAGACTTTCTGAGACCCGCCCCAGCGGCTCAGAGGGTAGTAGCCAGGGGCCTTCCTGGGGGCTCATAACCCAGAACACTGAATGGGAAAACCCTGATGGAGGAGGCGCAGTGGAGCTGTGGGTGCCGATGGGAAGTCCCAGAGGAGCTGGGAGGTCAGTAGCGGTGCTGCCCTCTGTGGAGCACTTAGTGGGCACCAGGTGTGTTTCCAGGTTCATGGCCCTGGGACCTGAAGCTCAGAAGGTGAAGTAACTTGCCCAGGGCACCCGTCGGGCAGCGGCGGGCAGAGGATTTGTGGGCTGTGGAGCCTGTGCTCGTGGCCCAGCCCTGGGGGTTGTGAGTGTGCTGGCCGGGGAGCTTTTCCTGCAAGTGGACTGGTGTCTAGGAGCCAGCATGTCAGGCAGCAGGCAGCGGGAGTGCAGCAGGCAGCGGGAGCACAGCAGGCAGAGGGCGGGGCTCGAGCAGCCATCCGTGGACCCTGGGGCACGGAGGCATGTGGGAGAGGGCTGCTCCATGGCAGTGGCTGAAGGGCTGGGTTGTGCCCCGAGGAGGGTGGATGAGGGTAAGAAGTGGGGTCCCCAGGGGCTTTAGCAAGAGGAGGCCCAGGAACTGGTTGCCAGCTACAGTGAAGGGAACACGGCCCTGAGGTCAGGAGCTTGGTCAAGTCACTGTCTACATGGGCCTCGGTGTCCTCATCTGTGAAAAAGGAAGGGATGGGGAAGCTGACTCCAAGGCCCCTCCTAGCCCTGGTTTCATGAGTCTGAGGATCCCAGGGACATGGGCTTGGCAGTCTGACCTGTGAGGTCGTGGGGTCCAGGGAGGGGCACCGAGCTGGAAGCGGGAGGCAGAGGGGCTGGCCGGCTGGGTCAGACACAGCTGAAGCAGAGGCTGTGACTTGGGGCCTCAGAACCTTCACCCCTGAGCTGCCACCCCAGGATCTGGGTTCCCTCCTTGGGGGGCCCCAGGGAACAAGTCACCTGTCCTTTGCATAGGGGAGCCCTTCAGCTATGTGCAGA
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CCCAGCAACCTCAGGAAGGATCTGTCAGGATTATGGGGCACCCTGGGGGCCCCAAGTCTGCATGGGTCTCCACTTGCAATTTCTGTAGGAAGCTCTGATAAATCCAAACTGGGGGTCCTAGGACACAGTCAGAAATGCTGATACCGTTGTGTGTGGAGCCTCGGGCCCTGGGGGTCAGGAGCATGTGGAGGGTGGGCCACGGGGGTTCAGAAGAGAATCCTGTAACCCCCCACCCCCCAAACTGAAGCCCACTTGAGGGCCATGGCTGAAAGGTTGGGGGGTCTCCGTGCGTCCTGTGGAGTGGGTGGTGAGGAGTCCTTGGGTTTGCACGCCTCTGGGCCTGAGCGGCGGGACCCCGTCCACAGCGGATCCCTGGGCCCTGTTGCTCAGATGCTCTCAGAGTGTTGCTGTGGCCACGGAGGGAGCCTGAGTTAAGCTTCTCTTGTGCCGGTTGTACGCTGTCAGGTCACACTGGTGAGTTAGGCAGGGCACAGATGCCCAGAGCAGAGGGAACTTTCCTTGGGGATTCAACACGTGCAAGTCTTAGGGGCTGGCAAATCCTGCCCTCAGCTAGAGAGGGGGCTTTTATTTGAGACCAGAATCACCTGAGCATCCTCCTGTCCCCAGCTGTGTCCAGCCTGTCTGCAGGGACATCCTGAGAGGACCAGGCTCTCCCCTCATCCACCTGCCTAAGTGCCACTCTGAACCCTGTCCACCTGTGCCGTGGAGGGGCGTGACCTCAAGCTGCTCAGCCAGCAGCAGGCTTGGCCCTGGGGGGCAGCAGAGACCCAGGTGGCTGTGGGGTGGGTGCTTCGTGGCGTGGTTCTGAAACTTCGTTGGAAGTGTGTGGACAGTGCCTTGCCTGTTCTCTGTGGGACCCTATTTAGAAACGAGGTCTGAGTTACTGGGGGTCATCACTGTGTTCTGATGGCCCAGCTGTGTGGAGGCCGCGGTGCAGCCCCATCCAAGGAGCCAGGGCCCTGGGTCTAGCCGTGACCAGAATGCATGCCCCGGAGGTGTTTCTCATCTCGCACCTGTGTTGCCTGGTGTGTCAAGTGGTCGTGAAACTCTGTGTTAGCTCTTGGTGTTCCTGAAAGTGCCCCCGGGTCTCAGGCCTCAGAACCAGGGTTTCCCTTCATCTCGGTGGCCTGGGAGCATCTGGGCAGTTGAGCAAAGAGGGCGATTCACTTGAAGGGTGTGTCTGGCCCTGCCTAGGAGCCCCCCGGCACGGTGCTGGGGCCTGAAGCCGCCCTCGGGTGGTGGAGAGGAGGGAGCGATGAAGTGGCGTCGAGCTGGGCAGGAAGGGTGAGCCCCTGCAAGGTGGGCATGCTGGGGACGCTGAGCAGCATGGCCAGCAGCTGGGTCTGCAGCCTGGTACCCGGCGGGACTTGTGGTTGGGGCTGGTTTGTGGCCAGGAGAGGGGCTGGCAGGAGACAAGGGGGACTGTGAGGCAGCTCCCACCCAGCAGCTGAAGCCCAATGGCCTGGCTGTGTGGCTCTCAGCTGCGTGCATAACCTCTCAGTGCTTCAGTTCTCTCATTTGTAAAATGAGGAAACAAACAGTGCCAGCCTCCCAGAGGTGTCATGAGGATGAACGAGTGACCATGTAGCATGGGCTGGGTGCGTGTCACCTAACATCACCAGCCTTTGCAAGGAGAGCCCTGGGGGCCTGGCTGAGTATTTCCCTTGCCCGGCCCACCCCAGGCCTAGACTTGTGCCTGCTGCAGGCCCTTGACCCCTGACCCCATTGCACCTGTCTCCACAGGAGCCGAGGAGGTGCTGCTGCTGGCCCGGCGGACGGACCTACGGAGGATCTCGCTGGACACGCCGGACTTCACCGACATCGTGCTGCAGGTGGACGACATCCGGCACGCCATTGCCATCGACTACGACCCGCTAGAGGGCTATGTCTACTGGACAGATGACGAGGTGCGGGCCATCCGCAGGGCGTACCTGGACGGGTCTGGGGCGCAGACGCTGGTCAACACCGAGATCAACGACCCCGATGGCATCGCGGTCGACTGGGTGGCCCGAAACCTCTACTGGACCAACACGGGCACGGACCGCATCGAGGTGACGCGCCTCAACGGCACCTCCCGCAAGATCCTGGTGTCGGAGGACCTGGACGAGCCCCGAGCCATCGCACTGCACCCCGTGATGGGGTAAGACGGGCGGGGGCTGGGGCCTGGAGCCAGGGCCAGGCCAAGCACAGGCGAGAGGGAGATTGACCTGGACCTGTCATTCTGGGACACTGTCTTGCATCAGAACCCGGAGGAGGGCTTGTTAAAACACCGGCAGCTGGGCCCCACCCCCAGAGCGGTGATTCAGGAGCTCCAGGGCGGGGCTGAAGACTTGGGTTTCTAACAAGCACCCCAGTGGTCCGGTGCTGCTGCTGGGTCCATGCGTAGAAAGCCCTGGAGACCTGGAGGGAGCCCTTTGTTCCCCTGGCTTCAGTTTCCTCATCTGTAGAATGGAACGGTCCATCTGGGTGATTTCCAGGATGACAGTAGTGACAGTAAGGGCAGCCTCTGTGACACTGACCACAGTACAGGCCAGGCCTCTTTTTTTCTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTACAACCTCTGCCTCCTGGGCTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACTGTGCTTGGCTAATGTTTGTATTTTTGGTAGAGATGGGGTTTCACCGTCTTGGCCAGGCTGGTCGCAAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGTCAGGCCAGGCCTCTTTTGAACACTTTGCACACCATGGGTCTTTTCATCCAGGGGGGTAGGTACAGTTGTACAGTTGAGGACACTGAAGCCCAGAGAGGCTCAGGGACTTGCCCAGGGTCACACAGCAGGATGTGGCAGGTGTGGGGCTGGGCCTGGCAGCGTGGCTCCAGCTTTCCAGCATAGAAATCTGTGAAAGCAGATAGTTTGTCGGTCGGTAGGGGAGACTTTCTGAGACCCGCCCCAGCGGCTCAGAGGGTAGTAGCCAGGGGCCTTCCTGGGGGCTCATAACCCAGAACACTGAATGGGAAAACCCTGATGGAGGAGGCGCAGTGGAGCTGTGGGTGCCGATGGGAAGTCCCAGAGGAGCTGGGAGGTCAGTAGCGGTGCTGCCCTCTGTGGAGCACTTAGTGGGCACCAGGTGTGTTTCCAGGTTCATGGCCCTGGGACCTGAAGCTCAGAAGGTGAAGTAACTTGCCCAGGGCACCCGTCGGGCAGCGGCGGGCAGAGGATTTGTGGGCTGTGGAGCCTGTGCTCGTGGCCCAGCCCTGGGGGTTGTGAGTGTGCTGGCCGGGGAGCTTTTCCTGCAAGTGGACTGGTGTCTAGGAGCCAGCATGTCAGGCAGCAGGCAGCGGGAGTGCAGCAGGCAGCGGGAGCACAGCAGGCAGAGGGCGGGGCTCGAGCAGCCATCCGTGGACCCTGGGGCACGGAGGCATGTGGGAGAGGGCTGCTCCATGGCAGTGGCTGAAGGGCTGGGTTGTGCCCCGAGGAGGGTGGATGAGGGTAAGAAGTGGGGTCCCCAGGGGCTTTAGCAAGAGGAGGCCCAGGAACTGGTTGCCAGCTACAGTGAAGGGAACACGGCCCTGAGGTCAGGAGCTTGGTCAAGTCACTGTCTACATGGGCCTCGGTGTCCTCATCTGTGAAAAAGGAAGGGATGGGGAAGCTGACTCCAAGGCCCCTCCTAGCCCTGGTTTCATGAGTCTGAGGATCCCAGGGACATGGGCTTGGCAGTCTGACCTGTGAGGTCGTGGGGTCCAGGGAGGGGCACCGAGCTGGAAGCGGGAGGCAGAGGGGCTGGCCGGCTGGGTCAGACACAGCTGAAGCAGAGGCTGTGACTTGGGGCCTCAGAACCTTCACCCCTGAGCTGCCACCCCAGGATCTGGGTTCCCTCCTTGGGGGGCCCCAGGGAACAAGTCACCTGTCCTTTGCATAGGGGAGCCCTTCAGCTATGTGCAGA
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Task1_train_16175
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This gene mutation involves LRP5 (LDL receptor related protein 5) on Chromosome 11. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Osteoporosis with pseudoglioma
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CCCAGCAACCTCAGGAAGGATCTGTCAGGATTATGGGGCACCCTGGGGGCCCCAAGTCTGCATGGGTCTCCACTTGCAATTTCTGTAGGAAGCTCTGATAAATCCAAACTGGGGGTCCTAGGACACAGTCAGAAATGCTGATACCGTTGTGTGTGGAGCCTCGGGCCCTGGGGGTCAGGAGCATGTGGAGGGTGGGCCACGGGGGTTCAGAAGAGAATCCTGTAACCCCCCACCCCCCAAACTGAAGCCCACTTGAGGGCCATGGCTGAAAGGTTGGGGGGTCTCCGTGCGTCCTGTGGAGTGGGTGGTGAGGAGTCCTTGGGTTTGCACGCCTCTGGGCCTGAGCGGCGGGACCCCGTCCACAGCGGATCCCTGGGCCCTGTTGCTCAGATGCTCTCAGAGTGTTGCTGTGGCCACGGAGGGAGCCTGAGTTAAGCTTCTCTTGTGCCGGTTGTACGCTGTCAGGTCACACTGGTGAGTTAGGCAGGGCACAGATGCCCAGAGCAGAGGGAACTTTCCTTGGGGATTCAACACGTGCAAGTCTTAGGGGCTGGCAAATCCTGCCCTCAGCTAGAGAGGGGGCTTTTATTTGAGACCAGAATCACCTGAGCATCCTCCTGTCCCCAGCTGTGTCCAGCCTGTCTGCAGGGACATCCTGAGAGGACCAGGCTCTCCCCTCATCCACCTGCCTAAGTGCCACTCTGAACCCTGTCCACCTGTGCCGTGGAGGGGCGTGACCTCAAGCTGCTCAGCCAGCAGCAGGCTTGGCCCTGGGGGGCAGCAGAGACCCAGGTGGCTGTGGGGTGGGTGCTTCGTGGCGTGGTTCTGAAACTTCGTTGGAAGTGTGTGGACAGTGCCTTGCCTGTTCTCTGTGGGACCCTATTTAGAAACGAGGTCTGAGTTACTGGGGGTCATCACTGTGTTCTGATGGCCCAGCTGTGTGGAGGCCGCGGTGCAGCCCCATCCAAGGAGCCAGGGCCCTGGGTCTAGCCGTGACCAGAATGCATGCCCCGGAGGTGTTTCTCATCTCGCACCTGTGTTGCCTGGTGTGTCAAGTGGTCGTGAAACTCTGTGTTAGCTCTTGGTGTTCCTGAAAGTGCCCCCGGGTCTCAGGCCTCAGAACCAGGGTTTCCCTTCATCTCGGTGGCCTGGGAGCATCTGGGCAGTTGAGCAAAGAGGGCGATTCACTTGAAGGGTGTGTCTGGCCCTGCCTAGGAGCCCCCCGGCACGGTGCTGGGGCCTGAAGCCGCCCTCGGGTGGTGGAGAGGAGGGAGCGATGAAGTGGCGTCGAGCTGGGCAGGAAGGGTGAGCCCCTGCAAGGTGGGCATGCTGGGGACGCTGAGCAGCATGGCCAGCAGCTGGGTCTGCAGCCTGGTACCCGGCGGGACTTGTGGTTGGGGCTGGTTTGTGGCCAGGAGAGGGGCTGGCAGGAGACAAGGGGGACTGTGAGGCAGCTCCCACCCAGCAGCTGAAGCCCAATGGCCTGGCTGTGTGGCTCTCAGCTGCGTGCATAACCTCTCAGTGCTTCAGTTCTCTCATTTGTAAAATGAGGAAACAAACAGTGCCAGCCTCCCAGAGGTGTCATGAGGATGAACGAGTGACCATGTAGCATGGGCTGGGTGCGTGTCACCTAACATCACCAGCCTTTGCAAGGAGAGCCCTGGGGGCCTGGCTGAGTATTTCCCTTGCCCGGCCCACCCCAGGCCTAGACTTGTGCCTGCTGCAGGCCCTTGACCCCTGACCCCATTGCACCTGTCTCCACAGGAGCCGAGGAGGTGCTGCTGCTGGCCCGGCGGACGGACCTACGGAGGATCTCGCTGGACACGCCGGACTTCACCGACATCGTGCTGCAGGTGGACGACATCCGGCACGCCATTGCCATCGACTACGACCCGCTAGAGGGCTATGTCTACTGGACAGATGACGAGGTGCGGGCCATCCGCAGGGCGTACCTGGACGGGTCTGGGGCGCAGACGCTGGTCAACACCGAGATCAACGACCCCGATGGCATCGCGGTCGACTGGGTGGCCCGAAACCTCTACTGGACCGACACGGGCACGGACCGCATCGAGGTGACGCGCCTCAACGGCACCTCCCGCAAGATCCTGGTGTCGGAGGACCTGGACGAGCCCCGAGCCATCGCACTGCACCCCGTGATGGGGTAAGACGGGCGGGGGCTGGGGCCTGGAGCCAGGGCCAGGCCAAGCACAGGCGAGAGGGAGATTGACCTGGACCTGTCATTCTGGGACACTGTCTTGCATCAGAACCCGGAGGAGGGCTTGTTAAAACACCGGCAGCTGGGCCCCACCCCCAGAGCGGTGATTCAGGAGCTCCAGGGCGGGGCTGAAGACTTGGGTTTCTAACAAGCACCCCAGTGGTCCGGTGCTGCTGCTGGGTCCATGCGTAGAAAGCCCTGGAGACCTGGAGGGAGCCCTTTGTTCCCCTGGCTTCAGTTTCCTCATCTGTAGAATGGAACGGTCCATCTGGGTGATTTCCAGGATGACAGTAGTGACAGTAAGGGCAGCCTCTGTGACACTGACCACAGTACAGGCCAGGCCTCTTTTTTTCTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTACAACCTCTGCCTCCTGGGCTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACTGTGCTTGGCTAATGTTTGTATTTTTGGTAGAGATGGGGTTTCACCGTCTTGGCCAGGCTGGTCGCAAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGTCAGGCCAGGCCTCTTTTGAACACTTTGCACACCATGGGTCTTTTCATCCAGGGGGGTAGGTACAGTTGTACAGTTGAGGACACTGAAGCCCAGAGAGGCTCAGGGACTTGCCCAGGGTCACACAGCAGGATGTGGCAGGTGTGGGGCTGGGCCTGGCAGCGTGGCTCCAGCTTTCCAGCATAGAAATCTGTGAAAGCAGATAGTTTGTCGGTCGGTAGGGGAGACTTTCTGAGACCCGCCCCAGCGGCTCAGAGGGTAGTAGCCAGGGGCCTTCCTGGGGGCTCATAACCCAGAACACTGAATGGGAAAACCCTGATGGAGGAGGCGCAGTGGAGCTGTGGGTGCCGATGGGAAGTCCCAGAGGAGCTGGGAGGTCAGTAGCGGTGCTGCCCTCTGTGGAGCACTTAGTGGGCACCAGGTGTGTTTCCAGGTTCATGGCCCTGGGACCTGAAGCTCAGAAGGTGAAGTAACTTGCCCAGGGCACCCGTCGGGCAGCGGCGGGCAGAGGATTTGTGGGCTGTGGAGCCTGTGCTCGTGGCCCAGCCCTGGGGGTTGTGAGTGTGCTGGCCGGGGAGCTTTTCCTGCAAGTGGACTGGTGTCTAGGAGCCAGCATGTCAGGCAGCAGGCAGCGGGAGTGCAGCAGGCAGCGGGAGCACAGCAGGCAGAGGGCGGGGCTCGAGCAGCCATCCGTGGACCCTGGGGCACGGAGGCATGTGGGAGAGGGCTGCTCCATGGCAGTGGCTGAAGGGCTGGGTTGTGCCCCGAGGAGGGTGGATGAGGGTAAGAAGTGGGGTCCCCAGGGGCTTTAGCAAGAGGAGGCCCAGGAACTGGTTGCCAGCTACAGTGAAGGGAACACGGCCCTGAGGTCAGGAGCTTGGTCAAGTCACTGTCTACATGGGCCTCGGTGTCCTCATCTGTGAAAAAGGAAGGGATGGGGAAGCTGACTCCAAGGCCCCTCCTAGCCCTGGTTTCATGAGTCTGAGGATCCCAGGGACATGGGCTTGGCAGTCTGACCTGTGAGGTCGTGGGGTCCAGGGAGGGGCACCGAGCTGGAAGCGGGAGGCAGAGGGGCTGGCCGGCTGGGTCAGACACAGCTGAAGCAGAGGCTGTGACTTGGGGCCTCAGAACCTTCACCCCTGAGCTGCCACCCCAGGATCTGGGTTCCCTCCTTGGGGGGCCCCAGGGAACAAGTCACCTGTCCTTTGCATAGGGGAGCCCTTCAGCTATGTGCAGA
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CCCAGCAACCTCAGGAAGGATCTGTCAGGATTATGGGGCACCCTGGGGGCCCCAAGTCTGCATGGGTCTCCACTTGCAATTTCTGTAGGAAGCTCTGATAAATCCAAACTGGGGGTCCTAGGACACAGTCAGAAATGCTGATACCGTTGTGTGTGGAGCCTCGGGCCCTGGGGGTCAGGAGCATGTGGAGGGTGGGCCACGGGGGTTCAGAAGAGAATCCTGTAACCCCCCACCCCCCAAACTGAAGCCCACTTGAGGGCCATGGCTGAAAGGTTGGGGGGTCTCCGTGCGTCCTGTGGAGTGGGTGGTGAGGAGTCCTTGGGTTTGCACGCCTCTGGGCCTGAGCGGCGGGACCCCGTCCACAGCGGATCCCTGGGCCCTGTTGCTCAGATGCTCTCAGAGTGTTGCTGTGGCCACGGAGGGAGCCTGAGTTAAGCTTCTCTTGTGCCGGTTGTACGCTGTCAGGTCACACTGGTGAGTTAGGCAGGGCACAGATGCCCAGAGCAGAGGGAACTTTCCTTGGGGATTCAACACGTGCAAGTCTTAGGGGCTGGCAAATCCTGCCCTCAGCTAGAGAGGGGGCTTTTATTTGAGACCAGAATCACCTGAGCATCCTCCTGTCCCCAGCTGTGTCCAGCCTGTCTGCAGGGACATCCTGAGAGGACCAGGCTCTCCCCTCATCCACCTGCCTAAGTGCCACTCTGAACCCTGTCCACCTGTGCCGTGGAGGGGCGTGACCTCAAGCTGCTCAGCCAGCAGCAGGCTTGGCCCTGGGGGGCAGCAGAGACCCAGGTGGCTGTGGGGTGGGTGCTTCGTGGCGTGGTTCTGAAACTTCGTTGGAAGTGTGTGGACAGTGCCTTGCCTGTTCTCTGTGGGACCCTATTTAGAAACGAGGTCTGAGTTACTGGGGGTCATCACTGTGTTCTGATGGCCCAGCTGTGTGGAGGCCGCGGTGCAGCCCCATCCAAGGAGCCAGGGCCCTGGGTCTAGCCGTGACCAGAATGCATGCCCCGGAGGTGTTTCTCATCTCGCACCTGTGTTGCCTGGTGTGTCAAGTGGTCGTGAAACTCTGTGTTAGCTCTTGGTGTTCCTGAAAGTGCCCCCGGGTCTCAGGCCTCAGAACCAGGGTTTCCCTTCATCTCGGTGGCCTGGGAGCATCTGGGCAGTTGAGCAAAGAGGGCGATTCACTTGAAGGGTGTGTCTGGCCCTGCCTAGGAGCCCCCCGGCACGGTGCTGGGGCCTGAAGCCGCCCTCGGGTGGTGGAGAGGAGGGAGCGATGAAGTGGCGTCGAGCTGGGCAGGAAGGGTGAGCCCCTGCAAGGTGGGCATGCTGGGGACGCTGAGCAGCATGGCCAGCAGCTGGGTCTGCAGCCTGGTACCCGGCGGGACTTGTGGTTGGGGCTGGTTTGTGGCCAGGAGAGGGGCTGGCAGGAGACAAGGGGGACTGTGAGGCAGCTCCCACCCAGCAGCTGAAGCCCAATGGCCTGGCTGTGTGGCTCTCAGCTGCGTGCATAACCTCTCAGTGCTTCAGTTCTCTCATTTGTAAAATGAGGAAACAAACAGTGCCAGCCTCCCAGAGGTGTCATGAGGATGAACGAGTGACCATGTAGCATGGGCTGGGTGCGTGTCACCTAACATCACCAGCCTTTGCAAGGAGAGCCCTGGGGGCCTGGCTGAGTATTTCCCTTGCCCGGCCCACCCCAGGCCTAGACTTGTGCCTGCTGCAGGCCCTTGACCCCTGACCCCATTGCACCTGTCTCCACAGGAGCCGAGGAGGTGCTGCTGCTGGCCCGGCGGACGGACCTACGGAGGATCTCGCTGGACACGCCGGACTTCACCGACATCGTGCTGCAGGTGGACGACATCCGGCACGCCATTGCCATCGACTACGACCCGCTAGAGGGCTATGTCTACTGGACAGATGACGAGGTGCGGGCCATCCGCAGGGCGTACCTGGACGGGTCTGGGGCGCAGACGCTGGTCAACACCGAGATCAACGACCCCGATGGCATCGCGGTCGACTGGGTGGCCCGAAACCTCTACTGGACCAACACGGGCACGGACCGCATCGAGGTGACGCGCCTCAACGGCACCTCCCGCAAGATCCTGGTGTCGGAGGACCTGGACGAGCCCCGAGCCATCGCACTGCACCCCGTGATGGGGTAAGACGGGCGGGGGCTGGGGCCTGGAGCCAGGGCCAGGCCAAGCACAGGCGAGAGGGAGATTGACCTGGACCTGTCATTCTGGGACACTGTCTTGCATCAGAACCCGGAGGAGGGCTTGTTAAAACACCGGCAGCTGGGCCCCACCCCCAGAGCGGTGATTCAGGAGCTCCAGGGCGGGGCTGAAGACTTGGGTTTCTAACAAGCACCCCAGTGGTCCGGTGCTGCTGCTGGGTCCATGCGTAGAAAGCCCTGGAGACCTGGAGGGAGCCCTTTGTTCCCCTGGCTTCAGTTTCCTCATCTGTAGAATGGAACGGTCCATCTGGGTGATTTCCAGGATGACAGTAGTGACAGTAAGGGCAGCCTCTGTGACACTGACCACAGTACAGGCCAGGCCTCTTTTTTTCTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTACAACCTCTGCCTCCTGGGCTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACTGTGCTTGGCTAATGTTTGTATTTTTGGTAGAGATGGGGTTTCACCGTCTTGGCCAGGCTGGTCGCAAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGTCAGGCCAGGCCTCTTTTGAACACTTTGCACACCATGGGTCTTTTCATCCAGGGGGGTAGGTACAGTTGTACAGTTGAGGACACTGAAGCCCAGAGAGGCTCAGGGACTTGCCCAGGGTCACACAGCAGGATGTGGCAGGTGTGGGGCTGGGCCTGGCAGCGTGGCTCCAGCTTTCCAGCATAGAAATCTGTGAAAGCAGATAGTTTGTCGGTCGGTAGGGGAGACTTTCTGAGACCCGCCCCAGCGGCTCAGAGGGTAGTAGCCAGGGGCCTTCCTGGGGGCTCATAACCCAGAACACTGAATGGGAAAACCCTGATGGAGGAGGCGCAGTGGAGCTGTGGGTGCCGATGGGAAGTCCCAGAGGAGCTGGGAGGTCAGTAGCGGTGCTGCCCTCTGTGGAGCACTTAGTGGGCACCAGGTGTGTTTCCAGGTTCATGGCCCTGGGACCTGAAGCTCAGAAGGTGAAGTAACTTGCCCAGGGCACCCGTCGGGCAGCGGCGGGCAGAGGATTTGTGGGCTGTGGAGCCTGTGCTCGTGGCCCAGCCCTGGGGGTTGTGAGTGTGCTGGCCGGGGAGCTTTTCCTGCAAGTGGACTGGTGTCTAGGAGCCAGCATGTCAGGCAGCAGGCAGCGGGAGTGCAGCAGGCAGCGGGAGCACAGCAGGCAGAGGGCGGGGCTCGAGCAGCCATCCGTGGACCCTGGGGCACGGAGGCATGTGGGAGAGGGCTGCTCCATGGCAGTGGCTGAAGGGCTGGGTTGTGCCCCGAGGAGGGTGGATGAGGGTAAGAAGTGGGGTCCCCAGGGGCTTTAGCAAGAGGAGGCCCAGGAACTGGTTGCCAGCTACAGTGAAGGGAACACGGCCCTGAGGTCAGGAGCTTGGTCAAGTCACTGTCTACATGGGCCTCGGTGTCCTCATCTGTGAAAAAGGAAGGGATGGGGAAGCTGACTCCAAGGCCCCTCCTAGCCCTGGTTTCATGAGTCTGAGGATCCCAGGGACATGGGCTTGGCAGTCTGACCTGTGAGGTCGTGGGGTCCAGGGAGGGGCACCGAGCTGGAAGCGGGAGGCAGAGGGGCTGGCCGGCTGGGTCAGACACAGCTGAAGCAGAGGCTGTGACTTGGGGCCTCAGAACCTTCACCCCTGAGCTGCCACCCCAGGATCTGGGTTCCCTCCTTGGGGGGCCCCAGGGAACAAGTCACCTGTCCTTTGCATAGGGGAGCCCTTCAGCTATGTGCAGA
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Task1_train_16176
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Located on Chromosome 11, this mutation impacts LRP5 (LDL receptor related protein 5). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Exudative vitreoretinopathy 4
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CCCAGCAACCTCAGGAAGGATCTGTCAGGATTATGGGGCACCCTGGGGGCCCCAAGTCTGCATGGGTCTCCACTTGCAATTTCTGTAGGAAGCTCTGATAAATCCAAACTGGGGGTCCTAGGACACAGTCAGAAATGCTGATACCGTTGTGTGTGGAGCCTCGGGCCCTGGGGGTCAGGAGCATGTGGAGGGTGGGCCACGGGGGTTCAGAAGAGAATCCTGTAACCCCCCACCCCCCAAACTGAAGCCCACTTGAGGGCCATGGCTGAAAGGTTGGGGGGTCTCCGTGCGTCCTGTGGAGTGGGTGGTGAGGAGTCCTTGGGTTTGCACGCCTCTGGGCCTGAGCGGCGGGACCCCGTCCACAGCGGATCCCTGGGCCCTGTTGCTCAGATGCTCTCAGAGTGTTGCTGTGGCCACGGAGGGAGCCTGAGTTAAGCTTCTCTTGTGCCGGTTGTACGCTGTCAGGTCACACTGGTGAGTTAGGCAGGGCACAGATGCCCAGAGCAGAGGGAACTTTCCTTGGGGATTCAACACGTGCAAGTCTTAGGGGCTGGCAAATCCTGCCCTCAGCTAGAGAGGGGGCTTTTATTTGAGACCAGAATCACCTGAGCATCCTCCTGTCCCCAGCTGTGTCCAGCCTGTCTGCAGGGACATCCTGAGAGGACCAGGCTCTCCCCTCATCCACCTGCCTAAGTGCCACTCTGAACCCTGTCCACCTGTGCCGTGGAGGGGCGTGACCTCAAGCTGCTCAGCCAGCAGCAGGCTTGGCCCTGGGGGGCAGCAGAGACCCAGGTGGCTGTGGGGTGGGTGCTTCGTGGCGTGGTTCTGAAACTTCGTTGGAAGTGTGTGGACAGTGCCTTGCCTGTTCTCTGTGGGACCCTATTTAGAAACGAGGTCTGAGTTACTGGGGGTCATCACTGTGTTCTGATGGCCCAGCTGTGTGGAGGCCGCGGTGCAGCCCCATCCAAGGAGCCAGGGCCCTGGGTCTAGCCGTGACCAGAATGCATGCCCCGGAGGTGTTTCTCATCTCGCACCTGTGTTGCCTGGTGTGTCAAGTGGTCGTGAAACTCTGTGTTAGCTCTTGGTGTTCCTGAAAGTGCCCCCGGGTCTCAGGCCTCAGAACCAGGGTTTCCCTTCATCTCGGTGGCCTGGGAGCATCTGGGCAGTTGAGCAAAGAGGGCGATTCACTTGAAGGGTGTGTCTGGCCCTGCCTAGGAGCCCCCCGGCACGGTGCTGGGGCCTGAAGCCGCCCTCGGGTGGTGGAGAGGAGGGAGCGATGAAGTGGCGTCGAGCTGGGCAGGAAGGGTGAGCCCCTGCAAGGTGGGCATGCTGGGGACGCTGAGCAGCATGGCCAGCAGCTGGGTCTGCAGCCTGGTACCCGGCGGGACTTGTGGTTGGGGCTGGTTTGTGGCCAGGAGAGGGGCTGGCAGGAGACAAGGGGGACTGTGAGGCAGCTCCCACCCAGCAGCTGAAGCCCAATGGCCTGGCTGTGTGGCTCTCAGCTGCGTGCATAACCTCTCAGTGCTTCAGTTCTCTCATTTGTAAAATGAGGAAACAAACAGTGCCAGCCTCCCAGAGGTGTCATGAGGATGAACGAGTGACCATGTAGCATGGGCTGGGTGCGTGTCACCTAACATCACCAGCCTTTGCAAGGAGAGCCCTGGGGGCCTGGCTGAGTATTTCCCTTGCCCGGCCCACCCCAGGCCTAGACTTGTGCCTGCTGCAGGCCCTTGACCCCTGACCCCATTGCACCTGTCTCCACAGGAGCCGAGGAGGTGCTGCTGCTGGCCCGGCGGACGGACCTACGGAGGATCTCGCTGGACACGCCGGACTTCACCGACATCGTGCTGCAGGTGGACGACATCCGGCACGCCATTGCCATCGACTACGACCCGCTAGAGGGCTATGTCTACTGGACAGATGACGAGGTGCGGGCCATCCGCAGGGCGTACCTGGACGGGTCTGGGGCGCAGACGCTGGTCAACACCGAGATCAACGACCCCGATGGCATCGCGGTCGACTGGGTGGCCCGAAACCTCTACTGGACCGACACGGGCACGGACCGCATCGAGGTGACGCGCCTCAACGGCACCTCCCGCAAGATCCTGGTGTCGGAGGACCTGGACGAGCCCCGAGCCATCGCACTGCACCCCGTGATGGGGTAAGACGGGCGGGGGCTGGGGCCTGGAGCCAGGGCCAGGCCAAGCACAGGCGAGAGGGAGATTGACCTGGACCTGTCATTCTGGGACACTGTCTTGCATCAGAACCCGGAGGAGGGCTTGTTAAAACACCGGCAGCTGGGCCCCACCCCCAGAGCGGTGATTCAGGAGCTCCAGGGCGGGGCTGAAGACTTGGGTTTCTAACAAGCACCCCAGTGGTCCGGTGCTGCTGCTGGGTCCATGCGTAGAAAGCCCTGGAGACCTGGAGGGAGCCCTTTGTTCCCCTGGCTTCAGTTTCCTCATCTGTAGAATGGAACGGTCCATCTGGGTGATTTCCAGGATGACAGTAGTGACAGTAAGGGCAGCCTCTGTGACACTGACCACAGTACAGGCCAGGCCTCTTTTTTTCTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTACAACCTCTGCCTCCTGGGCTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACTGTGCTTGGCTAATGTTTGTATTTTTGGTAGAGATGGGGTTTCACCGTCTTGGCCAGGCTGGTCGCAAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGTCAGGCCAGGCCTCTTTTGAACACTTTGCACACCATGGGTCTTTTCATCCAGGGGGGTAGGTACAGTTGTACAGTTGAGGACACTGAAGCCCAGAGAGGCTCAGGGACTTGCCCAGGGTCACACAGCAGGATGTGGCAGGTGTGGGGCTGGGCCTGGCAGCGTGGCTCCAGCTTTCCAGCATAGAAATCTGTGAAAGCAGATAGTTTGTCGGTCGGTAGGGGAGACTTTCTGAGACCCGCCCCAGCGGCTCAGAGGGTAGTAGCCAGGGGCCTTCCTGGGGGCTCATAACCCAGAACACTGAATGGGAAAACCCTGATGGAGGAGGCGCAGTGGAGCTGTGGGTGCCGATGGGAAGTCCCAGAGGAGCTGGGAGGTCAGTAGCGGTGCTGCCCTCTGTGGAGCACTTAGTGGGCACCAGGTGTGTTTCCAGGTTCATGGCCCTGGGACCTGAAGCTCAGAAGGTGAAGTAACTTGCCCAGGGCACCCGTCGGGCAGCGGCGGGCAGAGGATTTGTGGGCTGTGGAGCCTGTGCTCGTGGCCCAGCCCTGGGGGTTGTGAGTGTGCTGGCCGGGGAGCTTTTCCTGCAAGTGGACTGGTGTCTAGGAGCCAGCATGTCAGGCAGCAGGCAGCGGGAGTGCAGCAGGCAGCGGGAGCACAGCAGGCAGAGGGCGGGGCTCGAGCAGCCATCCGTGGACCCTGGGGCACGGAGGCATGTGGGAGAGGGCTGCTCCATGGCAGTGGCTGAAGGGCTGGGTTGTGCCCCGAGGAGGGTGGATGAGGGTAAGAAGTGGGGTCCCCAGGGGCTTTAGCAAGAGGAGGCCCAGGAACTGGTTGCCAGCTACAGTGAAGGGAACACGGCCCTGAGGTCAGGAGCTTGGTCAAGTCACTGTCTACATGGGCCTCGGTGTCCTCATCTGTGAAAAAGGAAGGGATGGGGAAGCTGACTCCAAGGCCCCTCCTAGCCCTGGTTTCATGAGTCTGAGGATCCCAGGGACATGGGCTTGGCAGTCTGACCTGTGAGGTCGTGGGGTCCAGGGAGGGGCACCGAGCTGGAAGCGGGAGGCAGAGGGGCTGGCCGGCTGGGTCAGACACAGCTGAAGCAGAGGCTGTGACTTGGGGCCTCAGAACCTTCACCCCTGAGCTGCCACCCCAGGATCTGGGTTCCCTCCTTGGGGGGCCCCAGGGAACAAGTCACCTGTCCTTTGCATAGGGGAGCCCTTCAGCTATGTGCAGA
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CCCAGCAACCTCAGGAAGGATCTGTCAGGATTATGGGGCACCCTGGGGGCCCCAAGTCTGCATGGGTCTCCACTTGCAATTTCTGTAGGAAGCTCTGATAAATCCAAACTGGGGGTCCTAGGACACAGTCAGAAATGCTGATACCGTTGTGTGTGGAGCCTCGGGCCCTGGGGGTCAGGAGCATGTGGAGGGTGGGCCACGGGGGTTCAGAAGAGAATCCTGTAACCCCCCACCCCCCAAACTGAAGCCCACTTGAGGGCCATGGCTGAAAGGTTGGGGGGTCTCCGTGCGTCCTGTGGAGTGGGTGGTGAGGAGTCCTTGGGTTTGCACGCCTCTGGGCCTGAGCGGCGGGACCCCGTCCACAGCGGATCCCTGGGCCCTGTTGCTCAGATGCTCTCAGAGTGTTGCTGTGGCCACGGAGGGAGCCTGAGTTAAGCTTCTCTTGTGCCGGTTGTACGCTGTCAGGTCACACTGGTGAGTTAGGCAGGGCACAGATGCCCAGAGCAGAGGGAACTTTCCTTGGGGATTCAACACGTGCAAGTCTTAGGGGCTGGCAAATCCTGCCCTCAGCTAGAGAGGGGGCTTTTATTTGAGACCAGAATCACCTGAGCATCCTCCTGTCCCCAGCTGTGTCCAGCCTGTCTGCAGGGACATCCTGAGAGGACCAGGCTCTCCCCTCATCCACCTGCCTAAGTGCCACTCTGAACCCTGTCCACCTGTGCCGTGGAGGGGCGTGACCTCAAGCTGCTCAGCCAGCAGCAGGCTTGGCCCTGGGGGGCAGCAGAGACCCAGGTGGCTGTGGGGTGGGTGCTTCGTGGCGTGGTTCTGAAACTTCGTTGGAAGTGTGTGGACAGTGCCTTGCCTGTTCTCTGTGGGACCCTATTTAGAAACGAGGTCTGAGTTACTGGGGGTCATCACTGTGTTCTGATGGCCCAGCTGTGTGGAGGCCGCGGTGCAGCCCCATCCAAGGAGCCAGGGCCCTGGGTCTAGCCGTGACCAGAATGCATGCCCCGGAGGTGTTTCTCATCTCGCACCTGTGTTGCCTGGTGTGTCAAGTGGTCGTGAAACTCTGTGTTAGCTCTTGGTGTTCCTGAAAGTGCCCCCGGGTCTCAGGCCTCAGAACCAGGGTTTCCCTTCATCTCGGTGGCCTGGGAGCATCTGGGCAGTTGAGCAAAGAGGGCGATTCACTTGAAGGGTGTGTCTGGCCCTGCCTAGGAGCCCCCCGGCACGGTGCTGGGGCCTGAAGCCGCCCTCGGGTGGTGGAGAGGAGGGAGCGATGAAGTGGCGTCGAGCTGGGCAGGAAGGGTGAGCCCCTGCAAGGTGGGCATGCTGGGGACGCTGAGCAGCATGGCCAGCAGCTGGGTCTGCAGCCTGGTACCCGGCGGGACTTGTGGTTGGGGCTGGTTTGTGGCCAGGAGAGGGGCTGGCAGGAGACAAGGGGGACTGTGAGGCAGCTCCCACCCAGCAGCTGAAGCCCAATGGCCTGGCTGTGTGGCTCTCAGCTGCGTGCATAACCTCTCAGTGCTTCAGTTCTCTCATTTGTAAAATGAGGAAACAAACAGTGCCAGCCTCCCAGAGGTGTCATGAGGATGAACGAGTGACCATGTAGCATGGGCTGGGTGCGTGTCACCTAACATCACCAGCCTTTGCAAGGAGAGCCCTGGGGGCCTGGCTGAGTATTTCCCTTGCCCGGCCCACCCCAGGCCTAGACTTGTGCCTGCTGCAGGCCCTTGACCCCTGACCCCATTGCACCTGTCTCCACAGGAGCCGAGGAGGTGCTGCTGCTGGCCCGGCGGACGGACCTACGGAGGATCTCGCTGGACACGCCGGACTTCACCGACATCGTGCTGCAGGTGGACGACATCCGGCACGCCATTGCCATCGACTACGACCCGCTAGAGGGCTATGTCTACTGGACAGATGACGAGGTGCGGGCCATCCGCAGGGCGTACCTGGACGGGTCTGGGGCGCAGACGCTGGTCAACACCGAGATCAACGACCCCGATGGCATCGCGGTCGACTGGGTGGCCCGAAACCTCTACTGGACCAACACGGGCACGGACCGCATCGAGGTGACGCGCCTCAACGGCACCTCCCGCAAGATCCTGGTGTCGGAGGACCTGGACGAGCCCCGAGCCATCGCACTGCACCCCGTGATGGGGTAAGACGGGCGGGGGCTGGGGCCTGGAGCCAGGGCCAGGCCAAGCACAGGCGAGAGGGAGATTGACCTGGACCTGTCATTCTGGGACACTGTCTTGCATCAGAACCCGGAGGAGGGCTTGTTAAAACACCGGCAGCTGGGCCCCACCCCCAGAGCGGTGATTCAGGAGCTCCAGGGCGGGGCTGAAGACTTGGGTTTCTAACAAGCACCCCAGTGGTCCGGTGCTGCTGCTGGGTCCATGCGTAGAAAGCCCTGGAGACCTGGAGGGAGCCCTTTGTTCCCCTGGCTTCAGTTTCCTCATCTGTAGAATGGAACGGTCCATCTGGGTGATTTCCAGGATGACAGTAGTGACAGTAAGGGCAGCCTCTGTGACACTGACCACAGTACAGGCCAGGCCTCTTTTTTTCTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTACAACCTCTGCCTCCTGGGCTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACTGTGCTTGGCTAATGTTTGTATTTTTGGTAGAGATGGGGTTTCACCGTCTTGGCCAGGCTGGTCGCAAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGTCAGGCCAGGCCTCTTTTGAACACTTTGCACACCATGGGTCTTTTCATCCAGGGGGGTAGGTACAGTTGTACAGTTGAGGACACTGAAGCCCAGAGAGGCTCAGGGACTTGCCCAGGGTCACACAGCAGGATGTGGCAGGTGTGGGGCTGGGCCTGGCAGCGTGGCTCCAGCTTTCCAGCATAGAAATCTGTGAAAGCAGATAGTTTGTCGGTCGGTAGGGGAGACTTTCTGAGACCCGCCCCAGCGGCTCAGAGGGTAGTAGCCAGGGGCCTTCCTGGGGGCTCATAACCCAGAACACTGAATGGGAAAACCCTGATGGAGGAGGCGCAGTGGAGCTGTGGGTGCCGATGGGAAGTCCCAGAGGAGCTGGGAGGTCAGTAGCGGTGCTGCCCTCTGTGGAGCACTTAGTGGGCACCAGGTGTGTTTCCAGGTTCATGGCCCTGGGACCTGAAGCTCAGAAGGTGAAGTAACTTGCCCAGGGCACCCGTCGGGCAGCGGCGGGCAGAGGATTTGTGGGCTGTGGAGCCTGTGCTCGTGGCCCAGCCCTGGGGGTTGTGAGTGTGCTGGCCGGGGAGCTTTTCCTGCAAGTGGACTGGTGTCTAGGAGCCAGCATGTCAGGCAGCAGGCAGCGGGAGTGCAGCAGGCAGCGGGAGCACAGCAGGCAGAGGGCGGGGCTCGAGCAGCCATCCGTGGACCCTGGGGCACGGAGGCATGTGGGAGAGGGCTGCTCCATGGCAGTGGCTGAAGGGCTGGGTTGTGCCCCGAGGAGGGTGGATGAGGGTAAGAAGTGGGGTCCCCAGGGGCTTTAGCAAGAGGAGGCCCAGGAACTGGTTGCCAGCTACAGTGAAGGGAACACGGCCCTGAGGTCAGGAGCTTGGTCAAGTCACTGTCTACATGGGCCTCGGTGTCCTCATCTGTGAAAAAGGAAGGGATGGGGAAGCTGACTCCAAGGCCCCTCCTAGCCCTGGTTTCATGAGTCTGAGGATCCCAGGGACATGGGCTTGGCAGTCTGACCTGTGAGGTCGTGGGGTCCAGGGAGGGGCACCGAGCTGGAAGCGGGAGGCAGAGGGGCTGGCCGGCTGGGTCAGACACAGCTGAAGCAGAGGCTGTGACTTGGGGCCTCAGAACCTTCACCCCTGAGCTGCCACCCCAGGATCTGGGTTCCCTCCTTGGGGGGCCCCAGGGAACAAGTCACCTGTCCTTTGCATAGGGGAGCCCTTCAGCTATGTGCAGA
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Task1_train_16177
|
Consider this mutation in LRP5 (LDL receptor related protein 5) on Chromosome 11. Is this a benign change or a disease-causing variant?
|
Pathogenic; Polycystic liver disease 4 with or without kidney cysts
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CCCAGCAACCTCAGGAAGGATCTGTCAGGATTATGGGGCACCCTGGGGGCCCCAAGTCTGCATGGGTCTCCACTTGCAATTTCTGTAGGAAGCTCTGATAAATCCAAACTGGGGGTCCTAGGACACAGTCAGAAATGCTGATACCGTTGTGTGTGGAGCCTCGGGCCCTGGGGGTCAGGAGCATGTGGAGGGTGGGCCACGGGGGTTCAGAAGAGAATCCTGTAACCCCCCACCCCCCAAACTGAAGCCCACTTGAGGGCCATGGCTGAAAGGTTGGGGGGTCTCCGTGCGTCCTGTGGAGTGGGTGGTGAGGAGTCCTTGGGTTTGCACGCCTCTGGGCCTGAGCGGCGGGACCCCGTCCACAGCGGATCCCTGGGCCCTGTTGCTCAGATGCTCTCAGAGTGTTGCTGTGGCCACGGAGGGAGCCTGAGTTAAGCTTCTCTTGTGCCGGTTGTACGCTGTCAGGTCACACTGGTGAGTTAGGCAGGGCACAGATGCCCAGAGCAGAGGGAACTTTCCTTGGGGATTCAACACGTGCAAGTCTTAGGGGCTGGCAAATCCTGCCCTCAGCTAGAGAGGGGGCTTTTATTTGAGACCAGAATCACCTGAGCATCCTCCTGTCCCCAGCTGTGTCCAGCCTGTCTGCAGGGACATCCTGAGAGGACCAGGCTCTCCCCTCATCCACCTGCCTAAGTGCCACTCTGAACCCTGTCCACCTGTGCCGTGGAGGGGCGTGACCTCAAGCTGCTCAGCCAGCAGCAGGCTTGGCCCTGGGGGGCAGCAGAGACCCAGGTGGCTGTGGGGTGGGTGCTTCGTGGCGTGGTTCTGAAACTTCGTTGGAAGTGTGTGGACAGTGCCTTGCCTGTTCTCTGTGGGACCCTATTTAGAAACGAGGTCTGAGTTACTGGGGGTCATCACTGTGTTCTGATGGCCCAGCTGTGTGGAGGCCGCGGTGCAGCCCCATCCAAGGAGCCAGGGCCCTGGGTCTAGCCGTGACCAGAATGCATGCCCCGGAGGTGTTTCTCATCTCGCACCTGTGTTGCCTGGTGTGTCAAGTGGTCGTGAAACTCTGTGTTAGCTCTTGGTGTTCCTGAAAGTGCCCCCGGGTCTCAGGCCTCAGAACCAGGGTTTCCCTTCATCTCGGTGGCCTGGGAGCATCTGGGCAGTTGAGCAAAGAGGGCGATTCACTTGAAGGGTGTGTCTGGCCCTGCCTAGGAGCCCCCCGGCACGGTGCTGGGGCCTGAAGCCGCCCTCGGGTGGTGGAGAGGAGGGAGCGATGAAGTGGCGTCGAGCTGGGCAGGAAGGGTGAGCCCCTGCAAGGTGGGCATGCTGGGGACGCTGAGCAGCATGGCCAGCAGCTGGGTCTGCAGCCTGGTACCCGGCGGGACTTGTGGTTGGGGCTGGTTTGTGGCCAGGAGAGGGGCTGGCAGGAGACAAGGGGGACTGTGAGGCAGCTCCCACCCAGCAGCTGAAGCCCAATGGCCTGGCTGTGTGGCTCTCAGCTGCGTGCATAACCTCTCAGTGCTTCAGTTCTCTCATTTGTAAAATGAGGAAACAAACAGTGCCAGCCTCCCAGAGGTGTCATGAGGATGAACGAGTGACCATGTAGCATGGGCTGGGTGCGTGTCACCTAACATCACCAGCCTTTGCAAGGAGAGCCCTGGGGGCCTGGCTGAGTATTTCCCTTGCCCGGCCCACCCCAGGCCTAGACTTGTGCCTGCTGCAGGCCCTTGACCCCTGACCCCATTGCACCTGTCTCCACAGGAGCCGAGGAGGTGCTGCTGCTGGCCCGGCGGACGGACCTACGGAGGATCTCGCTGGACACGCCGGACTTCACCGACATCGTGCTGCAGGTGGACGACATCCGGCACGCCATTGCCATCGACTACGACCCGCTAGAGGGCTATGTCTACTGGACAGATGACGAGGTGCGGGCCATCCGCAGGGCGTACCTGGACGGGTCTGGGGCGCAGACGCTGGTCAACACCGAGATCAACGACCCCGATGGCATCGCGGTCGACTGGGTGGCCCGAAACCTCTACTGGACCGACACGGGCACGGACCGCATCGAGGTGACGCGCCTCAACGGCACCTCCCGCAAGATCCTGGTGTCGGAGGACCTGGACGAGCCCCGAGCCATCGCACTGCACCCCGTGATGGGGTAAGACGGGCGGGGGCTGGGGCCTGGAGCCAGGGCCAGGCCAAGCACAGGCGAGAGGGAGATTGACCTGGACCTGTCATTCTGGGACACTGTCTTGCATCAGAACCCGGAGGAGGGCTTGTTAAAACACCGGCAGCTGGGCCCCACCCCCAGAGCGGTGATTCAGGAGCTCCAGGGCGGGGCTGAAGACTTGGGTTTCTAACAAGCACCCCAGTGGTCCGGTGCTGCTGCTGGGTCCATGCGTAGAAAGCCCTGGAGACCTGGAGGGAGCCCTTTGTTCCCCTGGCTTCAGTTTCCTCATCTGTAGAATGGAACGGTCCATCTGGGTGATTTCCAGGATGACAGTAGTGACAGTAAGGGCAGCCTCTGTGACACTGACCACAGTACAGGCCAGGCCTCTTTTTTTCTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTACAACCTCTGCCTCCTGGGCTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACTGTGCTTGGCTAATGTTTGTATTTTTGGTAGAGATGGGGTTTCACCGTCTTGGCCAGGCTGGTCGCAAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGTCAGGCCAGGCCTCTTTTGAACACTTTGCACACCATGGGTCTTTTCATCCAGGGGGGTAGGTACAGTTGTACAGTTGAGGACACTGAAGCCCAGAGAGGCTCAGGGACTTGCCCAGGGTCACACAGCAGGATGTGGCAGGTGTGGGGCTGGGCCTGGCAGCGTGGCTCCAGCTTTCCAGCATAGAAATCTGTGAAAGCAGATAGTTTGTCGGTCGGTAGGGGAGACTTTCTGAGACCCGCCCCAGCGGCTCAGAGGGTAGTAGCCAGGGGCCTTCCTGGGGGCTCATAACCCAGAACACTGAATGGGAAAACCCTGATGGAGGAGGCGCAGTGGAGCTGTGGGTGCCGATGGGAAGTCCCAGAGGAGCTGGGAGGTCAGTAGCGGTGCTGCCCTCTGTGGAGCACTTAGTGGGCACCAGGTGTGTTTCCAGGTTCATGGCCCTGGGACCTGAAGCTCAGAAGGTGAAGTAACTTGCCCAGGGCACCCGTCGGGCAGCGGCGGGCAGAGGATTTGTGGGCTGTGGAGCCTGTGCTCGTGGCCCAGCCCTGGGGGTTGTGAGTGTGCTGGCCGGGGAGCTTTTCCTGCAAGTGGACTGGTGTCTAGGAGCCAGCATGTCAGGCAGCAGGCAGCGGGAGTGCAGCAGGCAGCGGGAGCACAGCAGGCAGAGGGCGGGGCTCGAGCAGCCATCCGTGGACCCTGGGGCACGGAGGCATGTGGGAGAGGGCTGCTCCATGGCAGTGGCTGAAGGGCTGGGTTGTGCCCCGAGGAGGGTGGATGAGGGTAAGAAGTGGGGTCCCCAGGGGCTTTAGCAAGAGGAGGCCCAGGAACTGGTTGCCAGCTACAGTGAAGGGAACACGGCCCTGAGGTCAGGAGCTTGGTCAAGTCACTGTCTACATGGGCCTCGGTGTCCTCATCTGTGAAAAAGGAAGGGATGGGGAAGCTGACTCCAAGGCCCCTCCTAGCCCTGGTTTCATGAGTCTGAGGATCCCAGGGACATGGGCTTGGCAGTCTGACCTGTGAGGTCGTGGGGTCCAGGGAGGGGCACCGAGCTGGAAGCGGGAGGCAGAGGGGCTGGCCGGCTGGGTCAGACACAGCTGAAGCAGAGGCTGTGACTTGGGGCCTCAGAACCTTCACCCCTGAGCTGCCACCCCAGGATCTGGGTTCCCTCCTTGGGGGGCCCCAGGGAACAAGTCACCTGTCCTTTGCATAGGGGAGCCCTTCAGCTATGTGCAGA
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CCCAGCAACCTCAGGAAGGATCTGTCAGGATTATGGGGCACCCTGGGGGCCCCAAGTCTGCATGGGTCTCCACTTGCAATTTCTGTAGGAAGCTCTGATAAATCCAAACTGGGGGTCCTAGGACACAGTCAGAAATGCTGATACCGTTGTGTGTGGAGCCTCGGGCCCTGGGGGTCAGGAGCATGTGGAGGGTGGGCCACGGGGGTTCAGAAGAGAATCCTGTAACCCCCCACCCCCCAAACTGAAGCCCACTTGAGGGCCATGGCTGAAAGGTTGGGGGGTCTCCGTGCGTCCTGTGGAGTGGGTGGTGAGGAGTCCTTGGGTTTGCACGCCTCTGGGCCTGAGCGGCGGGACCCCGTCCACAGCGGATCCCTGGGCCCTGTTGCTCAGATGCTCTCAGAGTGTTGCTGTGGCCACGGAGGGAGCCTGAGTTAAGCTTCTCTTGTGCCGGTTGTACGCTGTCAGGTCACACTGGTGAGTTAGGCAGGGCACAGATGCCCAGAGCAGAGGGAACTTTCCTTGGGGATTCAACACGTGCAAGTCTTAGGGGCTGGCAAATCCTGCCCTCAGCTAGAGAGGGGGCTTTTATTTGAGACCAGAATCACCTGAGCATCCTCCTGTCCCCAGCTGTGTCCAGCCTGTCTGCAGGGACATCCTGAGAGGACCAGGCTCTCCCCTCATCCACCTGCCTAAGTGCCACTCTGAACCCTGTCCACCTGTGCCGTGGAGGGGCGTGACCTCAAGCTGCTCAGCCAGCAGCAGGCTTGGCCCTGGGGGGCAGCAGAGACCCAGGTGGCTGTGGGGTGGGTGCTTCGTGGCGTGGTTCTGAAACTTCGTTGGAAGTGTGTGGACAGTGCCTTGCCTGTTCTCTGTGGGACCCTATTTAGAAACGAGGTCTGAGTTACTGGGGGTCATCACTGTGTTCTGATGGCCCAGCTGTGTGGAGGCCGCGGTGCAGCCCCATCCAAGGAGCCAGGGCCCTGGGTCTAGCCGTGACCAGAATGCATGCCCCGGAGGTGTTTCTCATCTCGCACCTGTGTTGCCTGGTGTGTCAAGTGGTCGTGAAACTCTGTGTTAGCTCTTGGTGTTCCTGAAAGTGCCCCCGGGTCTCAGGCCTCAGAACCAGGGTTTCCCTTCATCTCGGTGGCCTGGGAGCATCTGGGCAGTTGAGCAAAGAGGGCGATTCACTTGAAGGGTGTGTCTGGCCCTGCCTAGGAGCCCCCCGGCACGGTGCTGGGGCCTGAAGCCGCCCTCGGGTGGTGGAGAGGAGGGAGCGATGAAGTGGCGTCGAGCTGGGCAGGAAGGGTGAGCCCCTGCAAGGTGGGCATGCTGGGGACGCTGAGCAGCATGGCCAGCAGCTGGGTCTGCAGCCTGGTACCCGGCGGGACTTGTGGTTGGGGCTGGTTTGTGGCCAGGAGAGGGGCTGGCAGGAGACAAGGGGGACTGTGAGGCAGCTCCCACCCAGCAGCTGAAGCCCAATGGCCTGGCTGTGTGGCTCTCAGCTGCGTGCATAACCTCTCAGTGCTTCAGTTCTCTCATTTGTAAAATGAGGAAACAAACAGTGCCAGCCTCCCAGAGGTGTCATGAGGATGAACGAGTGACCATGTAGCATGGGCTGGGTGCGTGTCACCTAACATCACCAGCCTTTGCAAGGAGAGCCCTGGGGGCCTGGCTGAGTATTTCCCTTGCCCGGCCCACCCCAGGCCTAGACTTGTGCCTGCTGCAGGCCCTTGACCCCTGACCCCATTGCACCTGTCTCCACAGGAGCCGAGGAGGTGCTGCTGCTGGCCCGGCGGACGGACCTACGGAGGATCTCGCTGGACACGCCGGACTTCACCGACATCGTGCTGCAGGTGGACGACATCCGGCACGCCATTGCCATCGACTACGACCCGCTAGAGGGCTATGTCTACTGGACAGATGACGAGGTGCGGGCCATCCGCAGGGCGTACCTGGACGGGTCTGGGGCGCAGACGCTGGTCAACACCGAGATCAACGACCCCGATGGCATCGCGGTCGACTGGGTGGCCCGAAACCTCTACTGGACCAACACGGGCACGGACCGCATCGAGGTGACGCGCCTCAACGGCACCTCCCGCAAGATCCTGGTGTCGGAGGACCTGGACGAGCCCCGAGCCATCGCACTGCACCCCGTGATGGGGTAAGACGGGCGGGGGCTGGGGCCTGGAGCCAGGGCCAGGCCAAGCACAGGCGAGAGGGAGATTGACCTGGACCTGTCATTCTGGGACACTGTCTTGCATCAGAACCCGGAGGAGGGCTTGTTAAAACACCGGCAGCTGGGCCCCACCCCCAGAGCGGTGATTCAGGAGCTCCAGGGCGGGGCTGAAGACTTGGGTTTCTAACAAGCACCCCAGTGGTCCGGTGCTGCTGCTGGGTCCATGCGTAGAAAGCCCTGGAGACCTGGAGGGAGCCCTTTGTTCCCCTGGCTTCAGTTTCCTCATCTGTAGAATGGAACGGTCCATCTGGGTGATTTCCAGGATGACAGTAGTGACAGTAAGGGCAGCCTCTGTGACACTGACCACAGTACAGGCCAGGCCTCTTTTTTTCTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTACAACCTCTGCCTCCTGGGCTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACTGTGCTTGGCTAATGTTTGTATTTTTGGTAGAGATGGGGTTTCACCGTCTTGGCCAGGCTGGTCGCAAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGTCAGGCCAGGCCTCTTTTGAACACTTTGCACACCATGGGTCTTTTCATCCAGGGGGGTAGGTACAGTTGTACAGTTGAGGACACTGAAGCCCAGAGAGGCTCAGGGACTTGCCCAGGGTCACACAGCAGGATGTGGCAGGTGTGGGGCTGGGCCTGGCAGCGTGGCTCCAGCTTTCCAGCATAGAAATCTGTGAAAGCAGATAGTTTGTCGGTCGGTAGGGGAGACTTTCTGAGACCCGCCCCAGCGGCTCAGAGGGTAGTAGCCAGGGGCCTTCCTGGGGGCTCATAACCCAGAACACTGAATGGGAAAACCCTGATGGAGGAGGCGCAGTGGAGCTGTGGGTGCCGATGGGAAGTCCCAGAGGAGCTGGGAGGTCAGTAGCGGTGCTGCCCTCTGTGGAGCACTTAGTGGGCACCAGGTGTGTTTCCAGGTTCATGGCCCTGGGACCTGAAGCTCAGAAGGTGAAGTAACTTGCCCAGGGCACCCGTCGGGCAGCGGCGGGCAGAGGATTTGTGGGCTGTGGAGCCTGTGCTCGTGGCCCAGCCCTGGGGGTTGTGAGTGTGCTGGCCGGGGAGCTTTTCCTGCAAGTGGACTGGTGTCTAGGAGCCAGCATGTCAGGCAGCAGGCAGCGGGAGTGCAGCAGGCAGCGGGAGCACAGCAGGCAGAGGGCGGGGCTCGAGCAGCCATCCGTGGACCCTGGGGCACGGAGGCATGTGGGAGAGGGCTGCTCCATGGCAGTGGCTGAAGGGCTGGGTTGTGCCCCGAGGAGGGTGGATGAGGGTAAGAAGTGGGGTCCCCAGGGGCTTTAGCAAGAGGAGGCCCAGGAACTGGTTGCCAGCTACAGTGAAGGGAACACGGCCCTGAGGTCAGGAGCTTGGTCAAGTCACTGTCTACATGGGCCTCGGTGTCCTCATCTGTGAAAAAGGAAGGGATGGGGAAGCTGACTCCAAGGCCCCTCCTAGCCCTGGTTTCATGAGTCTGAGGATCCCAGGGACATGGGCTTGGCAGTCTGACCTGTGAGGTCGTGGGGTCCAGGGAGGGGCACCGAGCTGGAAGCGGGAGGCAGAGGGGCTGGCCGGCTGGGTCAGACACAGCTGAAGCAGAGGCTGTGACTTGGGGCCTCAGAACCTTCACCCCTGAGCTGCCACCCCAGGATCTGGGTTCCCTCCTTGGGGGGCCCCAGGGAACAAGTCACCTGTCCTTTGCATAGGGGAGCCCTTCAGCTATGTGCAGA
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Task1_train_16178
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Gene LRP5 (LDL receptor related protein 5) on Chromosome 11 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; not provided
|
TTATGGGGCACCCTGGGGGCCCCAAGTCTGCATGGGTCTCCACTTGCAATTTCTGTAGGAAGCTCTGATAAATCCAAACTGGGGGTCCTAGGACACAGTCAGAAATGCTGATACCGTTGTGTGTGGAGCCTCGGGCCCTGGGGGTCAGGAGCATGTGGAGGGTGGGCCACGGGGGTTCAGAAGAGAATCCTGTAACCCCCCACCCCCCAAACTGAAGCCCACTTGAGGGCCATGGCTGAAAGGTTGGGGGGTCTCCGTGCGTCCTGTGGAGTGGGTGGTGAGGAGTCCTTGGGTTTGCACGCCTCTGGGCCTGAGCGGCGGGACCCCGTCCACAGCGGATCCCTGGGCCCTGTTGCTCAGATGCTCTCAGAGTGTTGCTGTGGCCACGGAGGGAGCCTGAGTTAAGCTTCTCTTGTGCCGGTTGTACGCTGTCAGGTCACACTGGTGAGTTAGGCAGGGCACAGATGCCCAGAGCAGAGGGAACTTTCCTTGGGGATTCAACACGTGCAAGTCTTAGGGGCTGGCAAATCCTGCCCTCAGCTAGAGAGGGGGCTTTTATTTGAGACCAGAATCACCTGAGCATCCTCCTGTCCCCAGCTGTGTCCAGCCTGTCTGCAGGGACATCCTGAGAGGACCAGGCTCTCCCCTCATCCACCTGCCTAAGTGCCACTCTGAACCCTGTCCACCTGTGCCGTGGAGGGGCGTGACCTCAAGCTGCTCAGCCAGCAGCAGGCTTGGCCCTGGGGGGCAGCAGAGACCCAGGTGGCTGTGGGGTGGGTGCTTCGTGGCGTGGTTCTGAAACTTCGTTGGAAGTGTGTGGACAGTGCCTTGCCTGTTCTCTGTGGGACCCTATTTAGAAACGAGGTCTGAGTTACTGGGGGTCATCACTGTGTTCTGATGGCCCAGCTGTGTGGAGGCCGCGGTGCAGCCCCATCCAAGGAGCCAGGGCCCTGGGTCTAGCCGTGACCAGAATGCATGCCCCGGAGGTGTTTCTCATCTCGCACCTGTGTTGCCTGGTGTGTCAAGTGGTCGTGAAACTCTGTGTTAGCTCTTGGTGTTCCTGAAAGTGCCCCCGGGTCTCAGGCCTCAGAACCAGGGTTTCCCTTCATCTCGGTGGCCTGGGAGCATCTGGGCAGTTGAGCAAAGAGGGCGATTCACTTGAAGGGTGTGTCTGGCCCTGCCTAGGAGCCCCCCGGCACGGTGCTGGGGCCTGAAGCCGCCCTCGGGTGGTGGAGAGGAGGGAGCGATGAAGTGGCGTCGAGCTGGGCAGGAAGGGTGAGCCCCTGCAAGGTGGGCATGCTGGGGACGCTGAGCAGCATGGCCAGCAGCTGGGTCTGCAGCCTGGTACCCGGCGGGACTTGTGGTTGGGGCTGGTTTGTGGCCAGGAGAGGGGCTGGCAGGAGACAAGGGGGACTGTGAGGCAGCTCCCACCCAGCAGCTGAAGCCCAATGGCCTGGCTGTGTGGCTCTCAGCTGCGTGCATAACCTCTCAGTGCTTCAGTTCTCTCATTTGTAAAATGAGGAAACAAACAGTGCCAGCCTCCCAGAGGTGTCATGAGGATGAACGAGTGACCATGTAGCATGGGCTGGGTGCGTGTCACCTAACATCACCAGCCTTTGCAAGGAGAGCCCTGGGGGCCTGGCTGAGTATTTCCCTTGCCCGGCCCACCCCAGGCCTAGACTTGTGCCTGCTGCAGGCCCTTGACCCCTGACCCCATTGCACCTGTCTCCACAGGAGCCGAGGAGGTGCTGCTGCTGGCCCGGCGGACGGACCTACGGAGGATCTCGCTGGACACGCCGGACTTCACCGACATCGTGCTGCAGGTGGACGACATCCGGCACGCCATTGCCATCGACTACGACCCGCTAGAGGGCTATGTCTACTGGACAGATGACGAGGTGCGGGCCATCCGCAGGGCGTACCTGGACGGGTCTGGGGCGCAGACGCTGGTCAACACCGAGATCAACGACCCCGATGGCATCGCGGTCGACTGGGTGGCCCGAAACCTCTACTGGACCGACACGGGCACGGACCGCATCGAGGTGACGCGCCTCAACGGCACCTCCCGCAAGATCCTGGTGTCGGAGGACCTGGACGAGCCCCGAGCCATCGCACTGCACCCCGTGATGGGGTAAGACGGGCGGGGGCTGGGGCCTGGAGCCAGGGCCAGGCCAAGCACAGGCGAGAGGGAGATTGACCTGGACCTGTCATTCTGGGACACTGTCTTGCATCAGAACCCGGAGGAGGGCTTGTTAAAACACCGGCAGCTGGGCCCCACCCCCAGAGCGGTGATTCAGGAGCTCCAGGGCGGGGCTGAAGACTTGGGTTTCTAACAAGCACCCCAGTGGTCCGGTGCTGCTGCTGGGTCCATGCGTAGAAAGCCCTGGAGACCTGGAGGGAGCCCTTTGTTCCCCTGGCTTCAGTTTCCTCATCTGTAGAATGGAACGGTCCATCTGGGTGATTTCCAGGATGACAGTAGTGACAGTAAGGGCAGCCTCTGTGACACTGACCACAGTACAGGCCAGGCCTCTTTTTTTCTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTACAACCTCTGCCTCCTGGGCTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACTGTGCTTGGCTAATGTTTGTATTTTTGGTAGAGATGGGGTTTCACCGTCTTGGCCAGGCTGGTCGCAAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGTCAGGCCAGGCCTCTTTTGAACACTTTGCACACCATGGGTCTTTTCATCCAGGGGGGTAGGTACAGTTGTACAGTTGAGGACACTGAAGCCCAGAGAGGCTCAGGGACTTGCCCAGGGTCACACAGCAGGATGTGGCAGGTGTGGGGCTGGGCCTGGCAGCGTGGCTCCAGCTTTCCAGCATAGAAATCTGTGAAAGCAGATAGTTTGTCGGTCGGTAGGGGAGACTTTCTGAGACCCGCCCCAGCGGCTCAGAGGGTAGTAGCCAGGGGCCTTCCTGGGGGCTCATAACCCAGAACACTGAATGGGAAAACCCTGATGGAGGAGGCGCAGTGGAGCTGTGGGTGCCGATGGGAAGTCCCAGAGGAGCTGGGAGGTCAGTAGCGGTGCTGCCCTCTGTGGAGCACTTAGTGGGCACCAGGTGTGTTTCCAGGTTCATGGCCCTGGGACCTGAAGCTCAGAAGGTGAAGTAACTTGCCCAGGGCACCCGTCGGGCAGCGGCGGGCAGAGGATTTGTGGGCTGTGGAGCCTGTGCTCGTGGCCCAGCCCTGGGGGTTGTGAGTGTGCTGGCCGGGGAGCTTTTCCTGCAAGTGGACTGGTGTCTAGGAGCCAGCATGTCAGGCAGCAGGCAGCGGGAGTGCAGCAGGCAGCGGGAGCACAGCAGGCAGAGGGCGGGGCTCGAGCAGCCATCCGTGGACCCTGGGGCACGGAGGCATGTGGGAGAGGGCTGCTCCATGGCAGTGGCTGAAGGGCTGGGTTGTGCCCCGAGGAGGGTGGATGAGGGTAAGAAGTGGGGTCCCCAGGGGCTTTAGCAAGAGGAGGCCCAGGAACTGGTTGCCAGCTACAGTGAAGGGAACACGGCCCTGAGGTCAGGAGCTTGGTCAAGTCACTGTCTACATGGGCCTCGGTGTCCTCATCTGTGAAAAAGGAAGGGATGGGGAAGCTGACTCCAAGGCCCCTCCTAGCCCTGGTTTCATGAGTCTGAGGATCCCAGGGACATGGGCTTGGCAGTCTGACCTGTGAGGTCGTGGGGTCCAGGGAGGGGCACCGAGCTGGAAGCGGGAGGCAGAGGGGCTGGCCGGCTGGGTCAGACACAGCTGAAGCAGAGGCTGTGACTTGGGGCCTCAGAACCTTCACCCCTGAGCTGCCACCCCAGGATCTGGGTTCCCTCCTTGGGGGGCCCCAGGGAACAAGTCACCTGTCCTTTGCATAGGGGAGCCCTTCAGCTATGTGCAGAAGGTTCTGCTCTGCCCCTTCCTCCCTCTAG
|
TTATGGGGCACCCTGGGGGCCCCAAGTCTGCATGGGTCTCCACTTGCAATTTCTGTAGGAAGCTCTGATAAATCCAAACTGGGGGTCCTAGGACACAGTCAGAAATGCTGATACCGTTGTGTGTGGAGCCTCGGGCCCTGGGGGTCAGGAGCATGTGGAGGGTGGGCCACGGGGGTTCAGAAGAGAATCCTGTAACCCCCCACCCCCCAAACTGAAGCCCACTTGAGGGCCATGGCTGAAAGGTTGGGGGGTCTCCGTGCGTCCTGTGGAGTGGGTGGTGAGGAGTCCTTGGGTTTGCACGCCTCTGGGCCTGAGCGGCGGGACCCCGTCCACAGCGGATCCCTGGGCCCTGTTGCTCAGATGCTCTCAGAGTGTTGCTGTGGCCACGGAGGGAGCCTGAGTTAAGCTTCTCTTGTGCCGGTTGTACGCTGTCAGGTCACACTGGTGAGTTAGGCAGGGCACAGATGCCCAGAGCAGAGGGAACTTTCCTTGGGGATTCAACACGTGCAAGTCTTAGGGGCTGGCAAATCCTGCCCTCAGCTAGAGAGGGGGCTTTTATTTGAGACCAGAATCACCTGAGCATCCTCCTGTCCCCAGCTGTGTCCAGCCTGTCTGCAGGGACATCCTGAGAGGACCAGGCTCTCCCCTCATCCACCTGCCTAAGTGCCACTCTGAACCCTGTCCACCTGTGCCGTGGAGGGGCGTGACCTCAAGCTGCTCAGCCAGCAGCAGGCTTGGCCCTGGGGGGCAGCAGAGACCCAGGTGGCTGTGGGGTGGGTGCTTCGTGGCGTGGTTCTGAAACTTCGTTGGAAGTGTGTGGACAGTGCCTTGCCTGTTCTCTGTGGGACCCTATTTAGAAACGAGGTCTGAGTTACTGGGGGTCATCACTGTGTTCTGATGGCCCAGCTGTGTGGAGGCCGCGGTGCAGCCCCATCCAAGGAGCCAGGGCCCTGGGTCTAGCCGTGACCAGAATGCATGCCCCGGAGGTGTTTCTCATCTCGCACCTGTGTTGCCTGGTGTGTCAAGTGGTCGTGAAACTCTGTGTTAGCTCTTGGTGTTCCTGAAAGTGCCCCCGGGTCTCAGGCCTCAGAACCAGGGTTTCCCTTCATCTCGGTGGCCTGGGAGCATCTGGGCAGTTGAGCAAAGAGGGCGATTCACTTGAAGGGTGTGTCTGGCCCTGCCTAGGAGCCCCCCGGCACGGTGCTGGGGCCTGAAGCCGCCCTCGGGTGGTGGAGAGGAGGGAGCGATGAAGTGGCGTCGAGCTGGGCAGGAAGGGTGAGCCCCTGCAAGGTGGGCATGCTGGGGACGCTGAGCAGCATGGCCAGCAGCTGGGTCTGCAGCCTGGTACCCGGCGGGACTTGTGGTTGGGGCTGGTTTGTGGCCAGGAGAGGGGCTGGCAGGAGACAAGGGGGACTGTGAGGCAGCTCCCACCCAGCAGCTGAAGCCCAATGGCCTGGCTGTGTGGCTCTCAGCTGCGTGCATAACCTCTCAGTGCTTCAGTTCTCTCATTTGTAAAATGAGGAAACAAACAGTGCCAGCCTCCCAGAGGTGTCATGAGGATGAACGAGTGACCATGTAGCATGGGCTGGGTGCGTGTCACCTAACATCACCAGCCTTTGCAAGGAGAGCCCTGGGGGCCTGGCTGAGTATTTCCCTTGCCCGGCCCACCCCAGGCCTAGACTTGTGCCTGCTGCAGGCCCTTGACCCCTGACCCCATTGCACCTGTCTCCACAGGAGCCGAGGAGGTGCTGCTGCTGGCCCGGCGGACGGACCTACGGAGGATCTCGCTGGACACGCCGGACTTCACCGACATCGTGCTGCAGGTGGACGACATCCGGCACGCCATTGCCATCGACTACGACCCGCTAGAGGGCTATGTCTACTGGACAGATGACGAGGTGCGGGCCATCCGCAGGGCGTACCTGGACGGGTCTGGGGCGCAGACGCTGGTCAACACCGAGATCAACGACCCCGATGGCATCGCGGTCGACTGGGTGGCCCGAAACCTCTACTGGACCGACACGGGCACGGACCGCATCGAGGTGACGTGCCTCAACGGCACCTCCCGCAAGATCCTGGTGTCGGAGGACCTGGACGAGCCCCGAGCCATCGCACTGCACCCCGTGATGGGGTAAGACGGGCGGGGGCTGGGGCCTGGAGCCAGGGCCAGGCCAAGCACAGGCGAGAGGGAGATTGACCTGGACCTGTCATTCTGGGACACTGTCTTGCATCAGAACCCGGAGGAGGGCTTGTTAAAACACCGGCAGCTGGGCCCCACCCCCAGAGCGGTGATTCAGGAGCTCCAGGGCGGGGCTGAAGACTTGGGTTTCTAACAAGCACCCCAGTGGTCCGGTGCTGCTGCTGGGTCCATGCGTAGAAAGCCCTGGAGACCTGGAGGGAGCCCTTTGTTCCCCTGGCTTCAGTTTCCTCATCTGTAGAATGGAACGGTCCATCTGGGTGATTTCCAGGATGACAGTAGTGACAGTAAGGGCAGCCTCTGTGACACTGACCACAGTACAGGCCAGGCCTCTTTTTTTCTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTACAACCTCTGCCTCCTGGGCTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACTGTGCTTGGCTAATGTTTGTATTTTTGGTAGAGATGGGGTTTCACCGTCTTGGCCAGGCTGGTCGCAAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGTCAGGCCAGGCCTCTTTTGAACACTTTGCACACCATGGGTCTTTTCATCCAGGGGGGTAGGTACAGTTGTACAGTTGAGGACACTGAAGCCCAGAGAGGCTCAGGGACTTGCCCAGGGTCACACAGCAGGATGTGGCAGGTGTGGGGCTGGGCCTGGCAGCGTGGCTCCAGCTTTCCAGCATAGAAATCTGTGAAAGCAGATAGTTTGTCGGTCGGTAGGGGAGACTTTCTGAGACCCGCCCCAGCGGCTCAGAGGGTAGTAGCCAGGGGCCTTCCTGGGGGCTCATAACCCAGAACACTGAATGGGAAAACCCTGATGGAGGAGGCGCAGTGGAGCTGTGGGTGCCGATGGGAAGTCCCAGAGGAGCTGGGAGGTCAGTAGCGGTGCTGCCCTCTGTGGAGCACTTAGTGGGCACCAGGTGTGTTTCCAGGTTCATGGCCCTGGGACCTGAAGCTCAGAAGGTGAAGTAACTTGCCCAGGGCACCCGTCGGGCAGCGGCGGGCAGAGGATTTGTGGGCTGTGGAGCCTGTGCTCGTGGCCCAGCCCTGGGGGTTGTGAGTGTGCTGGCCGGGGAGCTTTTCCTGCAAGTGGACTGGTGTCTAGGAGCCAGCATGTCAGGCAGCAGGCAGCGGGAGTGCAGCAGGCAGCGGGAGCACAGCAGGCAGAGGGCGGGGCTCGAGCAGCCATCCGTGGACCCTGGGGCACGGAGGCATGTGGGAGAGGGCTGCTCCATGGCAGTGGCTGAAGGGCTGGGTTGTGCCCCGAGGAGGGTGGATGAGGGTAAGAAGTGGGGTCCCCAGGGGCTTTAGCAAGAGGAGGCCCAGGAACTGGTTGCCAGCTACAGTGAAGGGAACACGGCCCTGAGGTCAGGAGCTTGGTCAAGTCACTGTCTACATGGGCCTCGGTGTCCTCATCTGTGAAAAAGGAAGGGATGGGGAAGCTGACTCCAAGGCCCCTCCTAGCCCTGGTTTCATGAGTCTGAGGATCCCAGGGACATGGGCTTGGCAGTCTGACCTGTGAGGTCGTGGGGTCCAGGGAGGGGCACCGAGCTGGAAGCGGGAGGCAGAGGGGCTGGCCGGCTGGGTCAGACACAGCTGAAGCAGAGGCTGTGACTTGGGGCCTCAGAACCTTCACCCCTGAGCTGCCACCCCAGGATCTGGGTTCCCTCCTTGGGGGGCCCCAGGGAACAAGTCACCTGTCCTTTGCATAGGGGAGCCCTTCAGCTATGTGCAGAAGGTTCTGCTCTGCCCCTTCCTCCCTCTAG
|
Task1_train_16179
|
This gene mutation involves LRP5 (LDL receptor related protein 5) on Chromosome 11. Is it associated with any clinical condition, or is it benign?
|
Pathogenic; not provided
|
GGGAGCTTTTCCTGCAAGTGGACTGGTGTCTAGGAGCCAGCATGTCAGGCAGCAGGCAGCGGGAGTGCAGCAGGCAGCGGGAGCACAGCAGGCAGAGGGCGGGGCTCGAGCAGCCATCCGTGGACCCTGGGGCACGGAGGCATGTGGGAGAGGGCTGCTCCATGGCAGTGGCTGAAGGGCTGGGTTGTGCCCCGAGGAGGGTGGATGAGGGTAAGAAGTGGGGTCCCCAGGGGCTTTAGCAAGAGGAGGCCCAGGAACTGGTTGCCAGCTACAGTGAAGGGAACACGGCCCTGAGGTCAGGAGCTTGGTCAAGTCACTGTCTACATGGGCCTCGGTGTCCTCATCTGTGAAAAAGGAAGGGATGGGGAAGCTGACTCCAAGGCCCCTCCTAGCCCTGGTTTCATGAGTCTGAGGATCCCAGGGACATGGGCTTGGCAGTCTGACCTGTGAGGTCGTGGGGTCCAGGGAGGGGCACCGAGCTGGAAGCGGGAGGCAGAGGGGCTGGCCGGCTGGGTCAGACACAGCTGAAGCAGAGGCTGTGACTTGGGGCCTCAGAACCTTCACCCCTGAGCTGCCACCCCAGGATCTGGGTTCCCTCCTTGGGGGGCCCCAGGGAACAAGTCACCTGTCCTTTGCATAGGGGAGCCCTTCAGCTATGTGCAGAAGGTTCTGCTCTGCCCCTTCCTCCCTCTAGGTGCTCAGCTCCTCCAGCCCACTAGTCAGATGTGAGGCTGCCCCAGACCCTGGGCAGGGTCATTTCTGTCCACTGACCTTTGGGATGGGAGATGAGCTCTTGGCCCCTGAGAGTCCAAGGGCTGGTGTGGTGAAACCCGCACAGGGTGGAAGTGGGCATCCCTGTCCCAGGGGAGCCCCCAGGGACTCTGGTCACTGGGCTTGCCGCTGGCATGCTCAGTCCTCCAGCACTTACTGACACCAGCATCTACTGACACCAACATTTACAAACACCGACATTGACCGACACCGACATTTACCGACACTGACATTTACCAACACTGTTTACCAACACTGACATCTACTGACACTGGCATCTACCAACACTGACATTTACCGACACTGACATTTACCAACACTATTTACCAACACTGACATCTACTGACATTGGCATCTACCAACACCAACATTTACCGACACCAACATTTACCAACACTGAAATTTACCGACACCGACATTTACCGACACTGATATTTACCAACACTGACATCTACTGACGCTGGCATCTACTGACACCGATGCCAGCATCTACCAACACCGACATTTACCAACACTGACATTTACCAACACTGACATTTACCGACATTGACATTTACTGACACTGACATCTACTGACACTGGCATCTACTGACACTGATGTTTACCGACACTAGCATCTACTGACACTGACATTTACCAACACCAGCATCTACCAACACCGACATTTACCAACACTGACATTTACTGACACTGATATCTACTGACACTGGCATCTACTGACACCAACATTTACCAACACCAGCATCTACCAACACCGACATTTACCAACACCAGCATTTACCAACACCGATGTTTACCAACGCCGACGTTTACCGACGCCAGCATCTACCAACACTGACATTTACCGACACCGACATTTACCGACACTGACATTTACTGACACTGACATCTACTGATACTGGCATCTACCGACACTGATATTTACCAACGCCAGCATCTACTGACACTGATGTTTACCAACACCGACATTTACGAGCACCGACATTTACTGACACCAATATTTACTGACATCAACATTTAGCCATGTGATGGGGGCCGGCTTGGGGGCAGGCCTTGCTCTTGGCACTGGGGATGCTGCAGAGACCAGACAGACTCATGGGGTCATGGACTTCTGCTTCTTCTCCAGCCTCATGTACTGGACAGACTGGGGAGAGAACCCTAAAATCGAGTGTGCCAACTTGGATGGGCAGGAGCGGCGTGTGCTGGTCAATGCCTCCCTCGGGTGGCCCAACGGCCTGGCCCTGGACCTGCAGGAGGGGAAGCTCTACTGGGGAGACGCCAAGACAGACAAGATCGAGGTGAGGCTCCTGTGGACATGTTTGATCCAGGAGGCCAGGCCCAGCCACCCCCTGCAGCCAGATGTACGTATTGGCGAGGCACCGATGGGTGCCTGTGCTCTGCTATTTGGCCACATGGAATGCTTGAGAAAATAGTTACAATACTTTCTGACAAAAACGCCTTGAGAGGGTAGCGCTATACAACGTCCTGTGGTTACGTAAGATGTTATCATTCGGCCAGGTGCCTGTAGACACAGCTACTTGGAGACTGAGGTGGGAGGATCGCTGGAGTCCAAGAGTTTGAGGCCAGCCCGGGCAAAGGGGACACAGGAATCCTCTGCACTGCTTTTGCCACTTACTGTGAGATTTAAATTATTTCACAATACAAAATTAAGACAAAAAGTTAATCACATATCCACTGCCCTGCTTAAGACAGAAAACATGGGTGTTGTTGAAGCCAGAGGCAGCTGCTGGCCTGAGTTTGGTGATTGGTTCCTAAGCAGTTGAAGGCAGTTTTGTTTTTCCATAGATGTCTGTTCTCCCTTTGCTGGGTGCAGCCTCGCCCTGCTGCTGTGGTCGGGTTTCAGTGGCCTCGTCCCGTGGACGCAGCCTCGCCCTGCCGCTGTGGTCGGGTTTCAGTGGCCTCGTCCCGTGGACGCAGCCTCGCCCTGCCGCTGTGGTCGGGTTTCAGTGGCCTCGTCCTGTGGACGCAGCCTCGCCCTGCCGCTGTGGTCGGGTTTCAGTGGCCTCGTCCCGTGGACGCAGCCTCGCCCTGCCGCTGTGGTCGGGTTTCAGTGGCCTCGTCCTGTGGACGCAGCCTCGCCCTGCCGCTGTGGTCGGGTTTCAGTGGCCTCGTCCCATGGGCGTGCTTTGGCAGCTTTTTGCTCACCTGTGGAGCCTCTCTTGAGCTTTTTTGTTTGTTGTTTGTTTTTGTTTGATTTTGTTTGATTGTTTGTTTTTGTTGTCGTTGTTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCTTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCACATAGCTGGGATTACAAGTGCCCGCCACCACGCCTGGCTAAATTTTGTATTTTTAGTAGACAGGGGGTTTCACCATGTTGGTCAGGCTGGTCTGGAACTCCTGGTCTCACATGATCCACCTGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCTCTGTTGAGCATATTTTGAGGTTCTCTTGGTGCCAGTGATATGTTACATGTGTCCCCATCGCACCATCGTCACCCATTGAGGTGACATTGGTGCCTCTCCTCGGGGTGGATGCCTCCCTCTGTTTCCAGCAACTTCTGAAGGATTTTCCTGAGCTGCATCAGTCCTTGTTGACGTCACCATCGGGGTCACCTTTGCTCTCCTCAGGGCTCCCAGGGGAGGCCCGAATCAGGCAGCTTGCAGGGCAGGGCAGGATGGAGAACACGAGTGTGTGTCTGTGTTGCAGGATTTCAGACCCTGCTTCTGAGCGGGAGGAGTCTCAGCACCTTCAGGGTGGGGAACCCAGGGATGGGGGAGGCTGAGTGGACGCCCTTCCCACGAAAACCCTAGGAGCTGCAGGTGTGGCCATTTCCTGCTGGAGCTCCTTGTAAATGTTTTGTTTTTGGCAAGGCCCATGTTTGCGGGCCGCTGAGGATGATTTGCCTTCACGCATCCCCGCTACCCGTGGGAGCAGGTCAGGGACTCGCGTGTCTGTGGCACACCAGGCCTGTGACAGGCGTTGTTCCATGTACTGTCTCAGCAGTGGTTTTCTTGAGACAGGGTCTCGCTCGCTCACCCAGGCGAGAGTGCAGTGGCGCAATCACGGCTCGCTGTAGCCTCAATCTCCCTGGGCTCAGGTGATCCTCCTGCCTCACCCTCTGAGTAGCTGGGACTACAGACACATACCACCACACCCAGCTAGTTTTTGTGTATTTTTTGTGGGGGGAGATGGGGTTTCGCTGTGGTGCCCAAGCTGATCTCAAACTCCTGAGG
|
GGGAGCTTTTCCTGCAAGTGGACTGGTGTCTAGGAGCCAGCATGTCAGGCAGCAGGCAGCGGGAGTGCAGCAGGCAGCGGGAGCACAGCAGGCAGAGGGCGGGGCTCGAGCAGCCATCCGTGGACCCTGGGGCACGGAGGCATGTGGGAGAGGGCTGCTCCATGGCAGTGGCTGAAGGGCTGGGTTGTGCCCCGAGGAGGGTGGATGAGGGTAAGAAGTGGGGTCCCCAGGGGCTTTAGCAAGAGGAGGCCCAGGAACTGGTTGCCAGCTACAGTGAAGGGAACACGGCCCTGAGGTCAGGAGCTTGGTCAAGTCACTGTCTACATGGGCCTCGGTGTCCTCATCTGTGAAAAAGGAAGGGATGGGGAAGCTGACTCCAAGGCCCCTCCTAGCCCTGGTTTCATGAGTCTGAGGATCCCAGGGACATGGGCTTGGCAGTCTGACCTGTGAGGTCGTGGGGTCCAGGGAGGGGCACCGAGCTGGAAGCGGGAGGCAGAGGGGCTGGCCGGCTGGGTCAGACACAGCTGAAGCAGAGGCTGTGACTTGGGGCCTCAGAACCTTCACCCCTGAGCTGCCACCCCAGGATCTGGGTTCCCTCCTTGGGGGGCCCCAGGGAACAAGTCACCTGTCCTTTGCATAGGGGAGCCCTTCAGCTATGTGCAGAAGGTTCTGCTCTGCCCCTTCCTCCCTCTAGGTGCTCAGCTCCTCCAGCCCACTAGTCAGATGTGAGGCTGCCCCAGACCCTGGGCAGGGTCATTTCTGTCCACTGACCTTTGGGATGGGAGATGAGCTCTTGGCCCCTGAGAGTCCAAGGGCTGGTGTGGTGAAACCCGCACAGGGTGGAAGTGGGCATCCCTGTCCCAGGGGAGCCCCCAGGGACTCTGGTCACTGGGCTTGCCGCTGGCATGCTCAGTCCTCCAGCACTTACTGACACCAGCATCTACTGACACCAACATTTACAAACACCGACATTGACCGACACCGACATTTACCGACACTGACATTTACCAACACTGTTTACCAACACTGACATCTACTGACACTGGCATCTACCAACACTGACATTTACCGACACTGACATTTACCAACACTATTTACCAACACTGACATCTACTGACATTGGCATCTACCAACACCAACATTTACCGACACCAACATTTACCAACACTGAAATTTACCGACACCGACATTTACCGACACTGATATTTACCAACACTGACATCTACTGACGCTGGCATCTACTGACACCGATGCCAGCATCTACCAACACCGACATTTACCAACACTGACATTTACCAACACTGACATTTACCGACATTGACATTTACTGACACTGACATCTACTGACACTGGCATCTACTGACACTGATGTTTACCGACACTAGCATCTACTGACACTGACATTTACCAACACCAGCATCTACCAACACCGACATTTACCAACACTGACATTTACTGACACTGATATCTACTGACACTGGCATCTACTGACACCAACATTTACCAACACCAGCATCTACCAACACCGACATTTACCAACACCAGCATTTACCAACACCGATGTTTACCAACGCCGACGTTTACCGACGCCAGCATCTACCAACACTGACATTTACCGACACCGACATTTACCGACACTGACATTTACTGACACTGACATCTACTGATACTGGCATCTACCGACACTGATATTTACCAACGCCAGCATCTACTGACACTGATGTTTACCAACACCGACATTTACGAGCACCGACATTTACTGACACCAATATTTACTGACATCAACATTTAGCCATGTGATGGGGGCCGGCTTGGGGGCAGGCCTTGCTCTTGGCACTGGGGATGCTGCAGAGACCAGACAGACTCATGGGGTCATGGACTTCTGCTTCTTCTCCAGCCTCATGTACTGGACAGACTGGGGAGAGAACCCTAAAATCGAGTGTGCCAACTTGGATGGGCAGGAGCGGCGTGTGCTGGTCAATGCCTCCCTCGGGTGGCCCAACGGCCTGGCCCTGGACCTGCAGGAGGGGAAGCTCTACTGGGGAGACACCAAGACAGACAAGATCGAGGTGAGGCTCCTGTGGACATGTTTGATCCAGGAGGCCAGGCCCAGCCACCCCCTGCAGCCAGATGTACGTATTGGCGAGGCACCGATGGGTGCCTGTGCTCTGCTATTTGGCCACATGGAATGCTTGAGAAAATAGTTACAATACTTTCTGACAAAAACGCCTTGAGAGGGTAGCGCTATACAACGTCCTGTGGTTACGTAAGATGTTATCATTCGGCCAGGTGCCTGTAGACACAGCTACTTGGAGACTGAGGTGGGAGGATCGCTGGAGTCCAAGAGTTTGAGGCCAGCCCGGGCAAAGGGGACACAGGAATCCTCTGCACTGCTTTTGCCACTTACTGTGAGATTTAAATTATTTCACAATACAAAATTAAGACAAAAAGTTAATCACATATCCACTGCCCTGCTTAAGACAGAAAACATGGGTGTTGTTGAAGCCAGAGGCAGCTGCTGGCCTGAGTTTGGTGATTGGTTCCTAAGCAGTTGAAGGCAGTTTTGTTTTTCCATAGATGTCTGTTCTCCCTTTGCTGGGTGCAGCCTCGCCCTGCTGCTGTGGTCGGGTTTCAGTGGCCTCGTCCCGTGGACGCAGCCTCGCCCTGCCGCTGTGGTCGGGTTTCAGTGGCCTCGTCCCGTGGACGCAGCCTCGCCCTGCCGCTGTGGTCGGGTTTCAGTGGCCTCGTCCTGTGGACGCAGCCTCGCCCTGCCGCTGTGGTCGGGTTTCAGTGGCCTCGTCCCGTGGACGCAGCCTCGCCCTGCCGCTGTGGTCGGGTTTCAGTGGCCTCGTCCTGTGGACGCAGCCTCGCCCTGCCGCTGTGGTCGGGTTTCAGTGGCCTCGTCCCATGGGCGTGCTTTGGCAGCTTTTTGCTCACCTGTGGAGCCTCTCTTGAGCTTTTTTGTTTGTTGTTTGTTTTTGTTTGATTTTGTTTGATTGTTTGTTTTTGTTGTCGTTGTTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCTTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCACATAGCTGGGATTACAAGTGCCCGCCACCACGCCTGGCTAAATTTTGTATTTTTAGTAGACAGGGGGTTTCACCATGTTGGTCAGGCTGGTCTGGAACTCCTGGTCTCACATGATCCACCTGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCTCTGTTGAGCATATTTTGAGGTTCTCTTGGTGCCAGTGATATGTTACATGTGTCCCCATCGCACCATCGTCACCCATTGAGGTGACATTGGTGCCTCTCCTCGGGGTGGATGCCTCCCTCTGTTTCCAGCAACTTCTGAAGGATTTTCCTGAGCTGCATCAGTCCTTGTTGACGTCACCATCGGGGTCACCTTTGCTCTCCTCAGGGCTCCCAGGGGAGGCCCGAATCAGGCAGCTTGCAGGGCAGGGCAGGATGGAGAACACGAGTGTGTGTCTGTGTTGCAGGATTTCAGACCCTGCTTCTGAGCGGGAGGAGTCTCAGCACCTTCAGGGTGGGGAACCCAGGGATGGGGGAGGCTGAGTGGACGCCCTTCCCACGAAAACCCTAGGAGCTGCAGGTGTGGCCATTTCCTGCTGGAGCTCCTTGTAAATGTTTTGTTTTTGGCAAGGCCCATGTTTGCGGGCCGCTGAGGATGATTTGCCTTCACGCATCCCCGCTACCCGTGGGAGCAGGTCAGGGACTCGCGTGTCTGTGGCACACCAGGCCTGTGACAGGCGTTGTTCCATGTACTGTCTCAGCAGTGGTTTTCTTGAGACAGGGTCTCGCTCGCTCACCCAGGCGAGAGTGCAGTGGCGCAATCACGGCTCGCTGTAGCCTCAATCTCCCTGGGCTCAGGTGATCCTCCTGCCTCACCCTCTGAGTAGCTGGGACTACAGACACATACCACCACACCCAGCTAGTTTTTGTGTATTTTTTGTGGGGGGAGATGGGGTTTCGCTGTGGTGCCCAAGCTGATCTCAAACTCCTGAGG
|
Task1_train_16180
|
This gene mutation involves LRP5 (LDL receptor related protein 5) on Chromosome 11. Is it associated with any clinical condition, or is it benign?
|
Pathogenic; not provided
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TGCTGTTTTGTTGTTTCTTCTGTGACGTTAGCCACTGGGCTAATCTGAGCCCCTCAGTTACAGGTGGAGAAACTGAGACCCATGGGGGTGCAAGGACTTGCCGAGGACCCAGAGCCCCTTGGGGGCAGAGCTGAGGCGGGGCCTGGCTTTGGGTCCCAGAGCTTCCAGTCCCCTTCCCGCTCTCCTAACAGCTTTTTTTTTTGAGACAAGATCTCACCCTGTCACCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAATCTTCGCTAGCTGCGTTCCAGCGATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTGTGCCGCCATGCCCAGCTCGTTTTTTTTTGTACTTTTAGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAAATGATCCGCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCTGGGATCACACTGTGCCTGGCCCTAGCAGCTTTGTCCTGTGCCATCCAACAACAGATGACCGAAGTCTTTGTTTCTTAACATGCATTCCATCTGCCTTACAGTTTTGCCACCTGCAAAACAGAGGACTTGTCGCTTTTCTGGTAAGCTGGAAATGTAATCTGGTAGCAGGAGGCCTGTGGAAGCTTGCCTTTAATGGCCTTGTGTCTCTTTCATCCTGTCCTGAGAGCCGGAGAACTTGGATGTTGCGCCTAACTCAACCTTCCTGTTAACATACAGTTCTGCAGGCTCATGGATCATCAGAACCACGTCCTATCTCACGCGGCTGTATGCTTCCGTTGGTTCAGGTGTTTTTACCTTGACAGTATTTTCTCCTCGGTGGCTTTTGCGGTGGTTGCTTTTAATCAGCATTGACTCTTCAAGAAAAATATTTAGCTGCTACATCTCAGAGGAGACAGGGTGGAAAGCATCTGAGACCTGCAGGCTCAGACTTAGAACCAGAAGTGCCCTCAGAGTTCATCCGGCCCTGACCCAGCGGGAAATGAGTTCACAGAGAAGCGGGAGAACTTTGCCCCAGGCCCTGCCGTTGCTCATAACTGCCCCAGGTCCTTACATTTGCTCCAGGTCCTGCCCCAGGCCCTGCAGTTGCTCATAACTGCCCCAGGTCCTTATATTTGCTCCAGGTCCTGCCCCAGGTCCTGCAGTTGCTCTGTGTGGTGGGTGTGATCTGGAGCCCTCCGCCCATTGCTGCACCTGGGGCAGGCATTGCTAATTGATCCCAGGACTCCTTCCTGCGGAGCACGCCCTGGTTCTCCAGGCAGCCGCTGCCTGTCAGCCTGCAGTGGTTCGGGAGAGGACACCTGCTTGCCTGGTCTGTTCCAAATCTTGCTTCTCATCCCAGCACAGGTAGGGGGTGCTATGGGAAAGGGATCCTCAGCTGGCCCTGTCACTGCTCTATCAGCTGGGGACGTGGCATCCTAGTGAAAACATCATGGCCGGGCGCGGTGGCTCACGCCTGGAATCCCAGCACTTTGGGAGGCTGAGGAGGGTGGATCACTTGAGGTCAGAAGTTCGAGACCAGCCTGGTCAACATGGTGAAACCCATCTCTACTAAAAATACAAAAATTCGCCAGGTGTGGTGGCGGGTACCTGTAATCCGAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCCGAGATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACGCTGTCTCAAAATCTCAAACAAACAAACAAACAAAAAACAAACAAACAAAGCGTCATTTATCCAGCACCCCTGGGGAACCATGCTACCTGGTGTTTTATGGTACCTGGCAAGGTGCAGGTAAAGTTGCGGCTCTTGGGCATTGAACCCGTCTTGTTTGGGGCAGCTCAGGCCCCAGGCAGGGTCCGGGTTGGCTCTCGTTGGTGTGGCCCTGGCCCATCCAGACCTATATTTCTGCCGTCCTGCAGGTGATCAATGTTGATGGGACGAAGAGGCGGACCCTCCTGGAGGACAAGCTCCCGCACATTTTTGGGTTCACGCTGCTGGGGGACTTCATCTACTGGACTGACTGGCAGCGCCGCAGCATCGAGCGGGTGCACAAGGTCAAGGCCAGCCGGGACGTCATCATTGACCAGCTGCCCGACCTGATGGGGCTCAAAGCTGTGAATGTGGCCAAGGTCGTCGGTGAGTCCGGGGGGTCCCAAGCCATGGCTCAGCCATGCAGACTTGCATGAGGAGGAAGTGACGGGTCCATGCCTGGGCATAAGTGTTGAGCTCAGGTGCCCCGACCTGGGGAAGGGCAGGACAGGAAAGGTGACAGTATCTGGCCAAGGACAGATGGGAAGGGACCAAGGGAGCTGATTAGGGAGTGGTTATGGACTAGGAATGTCGGTAACAATGGTTAGAAAGTGACTAACATTTGTTGAGCACCTGCTGTGTGCCCGGCCCTGGCCGGGAGCCTTCGTGCCCACAGTGACCCCGTCTGCAAATGTAGTTCCTTGCCCTACTCGCACTGGGGAGCAGGACGCAGAGCCGTGCAACTCACAGGTGCCAAGCTCAGGACTCCCTCCTGGGTCTGCCTGGGCTGGGCTGTGCTTGTTGCCCCTGTGGCCCACGCATGTGCACCTTCCACCTGAAAGCCAGGATCTTCAGGACGCTCCCCGAGGAGGTCGTTGTCTGGCACAATGATTTGTCTCTTCCTGAAAAGGTGACAGAGTTACACTGGAGAGAGCAGCATCCAGGTGCGGCAGGGACAGGCCTGGGGCTCGCGGGCAGGGACTCTGTGTCCTGCCGGGGTCCCACACTGCACCTGCTTGTCAGAGGCACTCAGTCAATCTTTGCTGATGAAGGATGAGAGGACAGAGGACGTGATGCTTGCTGCTGCATTGCCTGCAGTCCTGGGTGAGATGCCCGGGTTGACTCTGCTGCCCGTCGGGTGGATGTGATGTCAGATCCCCGGCTTTAAAATACGAGGGAGCTGGGAATTGAGGGAGCAGGTTGGGGCAGAAAGCACAGCCCCGTGGAAGCCTGGAGCTGAGGCAGTGTGGGCGACCCCTGGAGCAGTGAGTGCTTCCTTCATGGCCTTCATCGCACCCTGCAGTCCTCATGTAGGGGATGCAATCCATGAATTTAGTTTTCCCAGCCTCCTTTAAAAACGCGTTCATGCTGGGGCCGGGGCAGTGCAGTGGCTCACATCTGAAATCCCACCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAGTCCAAAAAAAAAAAAATTAGTCTGGGTGTGGTATCACGCGCCTATAATCTCACTACTCGAGAGGCTGAGGCGGAGAATTGCTTGAACCCAGGAGGTAGAGGTTGTAGTGAGCCCGTATCGTACCACTGCCCTCCACCTGGGCAATAGAGCGAGACTCTGTCTCAAAAAGAAAAAAAAAAAAAGAACATTTATGCCAGGTGTGGTGGCTCATGCCTGAAATCCCAGAACTTTGGAAGACTGAGGCAGGAGGATCACTTGAGCCCAGAAATTTGAGAGTGTCTTCCCTGGGCAACATAGAGAGACCTCATCTCTACCAGAAAAAAAAAAATTAGCCCGGCATGGTGGCATATCCCTGTGGTCCCAGCTACTTAGGGGGCTGACGTGGCAGGATCACCTGAGTCTGGAGGCAGAGGTTGAAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGACAGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAGCATTTACTATCCACCATGGAAGGTGAGACTGACCTGTGAGTGATTGTTCAAAGAACAAAAAATAAACCCCAGAGATAAGACAAAAGGGTGCCTCCATGGGGGTGTGATTT
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TGCTGTTTTGTTGTTTCTTCTGTGACGTTAGCCACTGGGCTAATCTGAGCCCCTCAGTTACAGGTGGAGAAACTGAGACCCATGGGGGTGCAAGGACTTGCCGAGGACCCAGAGCCCCTTGGGGGCAGAGCTGAGGCGGGGCCTGGCTTTGGGTCCCAGAGCTTCCAGTCCCCTTCCCGCTCTCCTAACAGCTTTTTTTTTTGAGACAAGATCTCACCCTGTCACCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAATCTTCGCTAGCTGCGTTCCAGCGATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTGTGCCGCCATGCCCAGCTCGTTTTTTTTTGTACTTTTAGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAAATGATCCGCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCTGGGATCACACTGTGCCTGGCCCTAGCAGCTTTGTCCTGTGCCATCCAACAACAGATGACCGAAGTCTTTGTTTCTTAACATGCATTCCATCTGCCTTACAGTTTTGCCACCTGCAAAACAGAGGACTTGTCGCTTTTCTGGTAAGCTGGAAATGTAATCTGGTAGCAGGAGGCCTGTGGAAGCTTGCCTTTAATGGCCTTGTGTCTCTTTCATCCTGTCCTGAGAGCCGGAGAACTTGGATGTTGCGCCTAACTCAACCTTCCTGTTAACATACAGTTCTGCAGGCTCATGGATCATCAGAACCACGTCCTATCTCACGCGGCTGTATGCTTCCGTTGGTTCAGGTGTTTTTACCTTGACAGTATTTTCTCCTCGGTGGCTTTTGCGGTGGTTGCTTTTAATCAGCATTGACTCTTCAAGAAAAATATTTAGCTGCTACATCTCAGAGGAGACAGGGTGGAAAGCATCTGAGACCTGCAGGCTCAGACTTAGAACCAGAAGTGCCCTCAGAGTTCATCCGGCCCTGACCCAGCGGGAAATGAGTTCACAGAGAAGCGGGAGAACTTTGCCCCAGGCCCTGCCGTTGCTCATAACTGCCCCAGGTCCTTACATTTGCTCCAGGTCCTGCCCCAGGCCCTGCAGTTGCTCATAACTGCCCCAGGTCCTTATATTTGCTCCAGGTCCTGCCCCAGGTCCTGCAGTTGCTCTGTGTGGTGGGTGTGATCTGGAGCCCTCCGCCCATTGCTGCACCTGGGGCAGGCATTGCTAATTGATCCCAGGACTCCTTCCTGCGGAGCACGCCCTGGTTCTCCAGGCAGCCGCTGCCTGTCAGCCTGCAGTGGTTCGGGAGAGGACACCTGCTTGCCTGGTCTGTTCCAAATCTTGCTTCTCATCCCAGCACAGGTAGGGGGTGCTATGGGAAAGGGATCCTCAGCTGGCCCTGTCACTGCTCTATCAGCTGGGGACGTGGCATCCTAGTGAAAACATCATGGCCGGGCGCGGTGGCTCACGCCTGGAATCCCAGCACTTTGGGAGGCTGAGGAGGGTGGATCACTTGAGGTCAGAAGTTCGAGACCAGCCTGGTCAACATGGTGAAACCCATCTCTACTAAAAATACAAAAATTCGCCAGGTGTGGTGGCGGGTACCTGTAATCCGAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCCGAGATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACGCTGTCTCAAAATCTCAAACAAACAAACAAACAAAAAACAAACAAACAAAGCGTCATTTATCCAGCACCCCTGGGGAACCATGCTACCTGGTGTTTTATGGTACCTGGCAAGGTGCAGGTAAAGTTGCGGCTCTTGGGCATTGAACCCGTCTTGTTTGGGGCAGCTCAGGCCCCAGGCAGGGTCCGGGTTGGCTCTCGTTGGTGTGGCCCTGGCCCATCCAGACCTATATTTCTGCCGTCCTGCAGGTGATCAATGTTGATGGGACGAAGAGGCGGACCCTCCTGGAGGACAAGCTCCCGCACATTTTTGGGTTCATGCTGCTGGGGGACTTCATCTACTGGACTGACTGGCAGCGCCGCAGCATCGAGCGGGTGCACAAGGTCAAGGCCAGCCGGGACGTCATCATTGACCAGCTGCCCGACCTGATGGGGCTCAAAGCTGTGAATGTGGCCAAGGTCGTCGGTGAGTCCGGGGGGTCCCAAGCCATGGCTCAGCCATGCAGACTTGCATGAGGAGGAAGTGACGGGTCCATGCCTGGGCATAAGTGTTGAGCTCAGGTGCCCCGACCTGGGGAAGGGCAGGACAGGAAAGGTGACAGTATCTGGCCAAGGACAGATGGGAAGGGACCAAGGGAGCTGATTAGGGAGTGGTTATGGACTAGGAATGTCGGTAACAATGGTTAGAAAGTGACTAACATTTGTTGAGCACCTGCTGTGTGCCCGGCCCTGGCCGGGAGCCTTCGTGCCCACAGTGACCCCGTCTGCAAATGTAGTTCCTTGCCCTACTCGCACTGGGGAGCAGGACGCAGAGCCGTGCAACTCACAGGTGCCAAGCTCAGGACTCCCTCCTGGGTCTGCCTGGGCTGGGCTGTGCTTGTTGCCCCTGTGGCCCACGCATGTGCACCTTCCACCTGAAAGCCAGGATCTTCAGGACGCTCCCCGAGGAGGTCGTTGTCTGGCACAATGATTTGTCTCTTCCTGAAAAGGTGACAGAGTTACACTGGAGAGAGCAGCATCCAGGTGCGGCAGGGACAGGCCTGGGGCTCGCGGGCAGGGACTCTGTGTCCTGCCGGGGTCCCACACTGCACCTGCTTGTCAGAGGCACTCAGTCAATCTTTGCTGATGAAGGATGAGAGGACAGAGGACGTGATGCTTGCTGCTGCATTGCCTGCAGTCCTGGGTGAGATGCCCGGGTTGACTCTGCTGCCCGTCGGGTGGATGTGATGTCAGATCCCCGGCTTTAAAATACGAGGGAGCTGGGAATTGAGGGAGCAGGTTGGGGCAGAAAGCACAGCCCCGTGGAAGCCTGGAGCTGAGGCAGTGTGGGCGACCCCTGGAGCAGTGAGTGCTTCCTTCATGGCCTTCATCGCACCCTGCAGTCCTCATGTAGGGGATGCAATCCATGAATTTAGTTTTCCCAGCCTCCTTTAAAAACGCGTTCATGCTGGGGCCGGGGCAGTGCAGTGGCTCACATCTGAAATCCCACCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAGTCCAAAAAAAAAAAAATTAGTCTGGGTGTGGTATCACGCGCCTATAATCTCACTACTCGAGAGGCTGAGGCGGAGAATTGCTTGAACCCAGGAGGTAGAGGTTGTAGTGAGCCCGTATCGTACCACTGCCCTCCACCTGGGCAATAGAGCGAGACTCTGTCTCAAAAAGAAAAAAAAAAAAAGAACATTTATGCCAGGTGTGGTGGCTCATGCCTGAAATCCCAGAACTTTGGAAGACTGAGGCAGGAGGATCACTTGAGCCCAGAAATTTGAGAGTGTCTTCCCTGGGCAACATAGAGAGACCTCATCTCTACCAGAAAAAAAAAAATTAGCCCGGCATGGTGGCATATCCCTGTGGTCCCAGCTACTTAGGGGGCTGACGTGGCAGGATCACCTGAGTCTGGAGGCAGAGGTTGAAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGACAGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAGCATTTACTATCCACCATGGAAGGTGAGACTGACCTGTGAGTGATTGTTCAAAGAACAAAAAATAAACCCCAGAGATAAGACAAAAGGGTGCCTCCATGGGGGTGTGATTT
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Task1_train_16181
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This genomic variant is located on Chromosome 11, within the LRP5 (LDL receptor related protein 5) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Retinal dystrophy
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CAGTTACAGGTGGAGAAACTGAGACCCATGGGGGTGCAAGGACTTGCCGAGGACCCAGAGCCCCTTGGGGGCAGAGCTGAGGCGGGGCCTGGCTTTGGGTCCCAGAGCTTCCAGTCCCCTTCCCGCTCTCCTAACAGCTTTTTTTTTTGAGACAAGATCTCACCCTGTCACCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAATCTTCGCTAGCTGCGTTCCAGCGATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTGTGCCGCCATGCCCAGCTCGTTTTTTTTTGTACTTTTAGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAAATGATCCGCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCTGGGATCACACTGTGCCTGGCCCTAGCAGCTTTGTCCTGTGCCATCCAACAACAGATGACCGAAGTCTTTGTTTCTTAACATGCATTCCATCTGCCTTACAGTTTTGCCACCTGCAAAACAGAGGACTTGTCGCTTTTCTGGTAAGCTGGAAATGTAATCTGGTAGCAGGAGGCCTGTGGAAGCTTGCCTTTAATGGCCTTGTGTCTCTTTCATCCTGTCCTGAGAGCCGGAGAACTTGGATGTTGCGCCTAACTCAACCTTCCTGTTAACATACAGTTCTGCAGGCTCATGGATCATCAGAACCACGTCCTATCTCACGCGGCTGTATGCTTCCGTTGGTTCAGGTGTTTTTACCTTGACAGTATTTTCTCCTCGGTGGCTTTTGCGGTGGTTGCTTTTAATCAGCATTGACTCTTCAAGAAAAATATTTAGCTGCTACATCTCAGAGGAGACAGGGTGGAAAGCATCTGAGACCTGCAGGCTCAGACTTAGAACCAGAAGTGCCCTCAGAGTTCATCCGGCCCTGACCCAGCGGGAAATGAGTTCACAGAGAAGCGGGAGAACTTTGCCCCAGGCCCTGCCGTTGCTCATAACTGCCCCAGGTCCTTACATTTGCTCCAGGTCCTGCCCCAGGCCCTGCAGTTGCTCATAACTGCCCCAGGTCCTTATATTTGCTCCAGGTCCTGCCCCAGGTCCTGCAGTTGCTCTGTGTGGTGGGTGTGATCTGGAGCCCTCCGCCCATTGCTGCACCTGGGGCAGGCATTGCTAATTGATCCCAGGACTCCTTCCTGCGGAGCACGCCCTGGTTCTCCAGGCAGCCGCTGCCTGTCAGCCTGCAGTGGTTCGGGAGAGGACACCTGCTTGCCTGGTCTGTTCCAAATCTTGCTTCTCATCCCAGCACAGGTAGGGGGTGCTATGGGAAAGGGATCCTCAGCTGGCCCTGTCACTGCTCTATCAGCTGGGGACGTGGCATCCTAGTGAAAACATCATGGCCGGGCGCGGTGGCTCACGCCTGGAATCCCAGCACTTTGGGAGGCTGAGGAGGGTGGATCACTTGAGGTCAGAAGTTCGAGACCAGCCTGGTCAACATGGTGAAACCCATCTCTACTAAAAATACAAAAATTCGCCAGGTGTGGTGGCGGGTACCTGTAATCCGAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCCGAGATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACGCTGTCTCAAAATCTCAAACAAACAAACAAACAAAAAACAAACAAACAAAGCGTCATTTATCCAGCACCCCTGGGGAACCATGCTACCTGGTGTTTTATGGTACCTGGCAAGGTGCAGGTAAAGTTGCGGCTCTTGGGCATTGAACCCGTCTTGTTTGGGGCAGCTCAGGCCCCAGGCAGGGTCCGGGTTGGCTCTCGTTGGTGTGGCCCTGGCCCATCCAGACCTATATTTCTGCCGTCCTGCAGGTGATCAATGTTGATGGGACGAAGAGGCGGACCCTCCTGGAGGACAAGCTCCCGCACATTTTTGGGTTCACGCTGCTGGGGGACTTCATCTACTGGACTGACTGGCAGCGCCGCAGCATCGAGCGGGTGCACAAGGTCAAGGCCAGCCGGGACGTCATCATTGACCAGCTGCCCGACCTGATGGGGCTCAAAGCTGTGAATGTGGCCAAGGTCGTCGGTGAGTCCGGGGGGTCCCAAGCCATGGCTCAGCCATGCAGACTTGCATGAGGAGGAAGTGACGGGTCCATGCCTGGGCATAAGTGTTGAGCTCAGGTGCCCCGACCTGGGGAAGGGCAGGACAGGAAAGGTGACAGTATCTGGCCAAGGACAGATGGGAAGGGACCAAGGGAGCTGATTAGGGAGTGGTTATGGACTAGGAATGTCGGTAACAATGGTTAGAAAGTGACTAACATTTGTTGAGCACCTGCTGTGTGCCCGGCCCTGGCCGGGAGCCTTCGTGCCCACAGTGACCCCGTCTGCAAATGTAGTTCCTTGCCCTACTCGCACTGGGGAGCAGGACGCAGAGCCGTGCAACTCACAGGTGCCAAGCTCAGGACTCCCTCCTGGGTCTGCCTGGGCTGGGCTGTGCTTGTTGCCCCTGTGGCCCACGCATGTGCACCTTCCACCTGAAAGCCAGGATCTTCAGGACGCTCCCCGAGGAGGTCGTTGTCTGGCACAATGATTTGTCTCTTCCTGAAAAGGTGACAGAGTTACACTGGAGAGAGCAGCATCCAGGTGCGGCAGGGACAGGCCTGGGGCTCGCGGGCAGGGACTCTGTGTCCTGCCGGGGTCCCACACTGCACCTGCTTGTCAGAGGCACTCAGTCAATCTTTGCTGATGAAGGATGAGAGGACAGAGGACGTGATGCTTGCTGCTGCATTGCCTGCAGTCCTGGGTGAGATGCCCGGGTTGACTCTGCTGCCCGTCGGGTGGATGTGATGTCAGATCCCCGGCTTTAAAATACGAGGGAGCTGGGAATTGAGGGAGCAGGTTGGGGCAGAAAGCACAGCCCCGTGGAAGCCTGGAGCTGAGGCAGTGTGGGCGACCCCTGGAGCAGTGAGTGCTTCCTTCATGGCCTTCATCGCACCCTGCAGTCCTCATGTAGGGGATGCAATCCATGAATTTAGTTTTCCCAGCCTCCTTTAAAAACGCGTTCATGCTGGGGCCGGGGCAGTGCAGTGGCTCACATCTGAAATCCCACCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAGTCCAAAAAAAAAAAAATTAGTCTGGGTGTGGTATCACGCGCCTATAATCTCACTACTCGAGAGGCTGAGGCGGAGAATTGCTTGAACCCAGGAGGTAGAGGTTGTAGTGAGCCCGTATCGTACCACTGCCCTCCACCTGGGCAATAGAGCGAGACTCTGTCTCAAAAAGAAAAAAAAAAAAAGAACATTTATGCCAGGTGTGGTGGCTCATGCCTGAAATCCCAGAACTTTGGAAGACTGAGGCAGGAGGATCACTTGAGCCCAGAAATTTGAGAGTGTCTTCCCTGGGCAACATAGAGAGACCTCATCTCTACCAGAAAAAAAAAAATTAGCCCGGCATGGTGGCATATCCCTGTGGTCCCAGCTACTTAGGGGGCTGACGTGGCAGGATCACCTGAGTCTGGAGGCAGAGGTTGAAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGACAGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAGCATTTACTATCCACCATGGAAGGTGAGACTGACCTGTGAGTGATTGTTCAAAGAACAAAAAATAAACCCCAGAGATAAGACAAAAGGGTGCCTCCATGGGGGTGTGATTTAAAGCTGAGAAATTGGGCTTCTTCCCCCTCCCCTCTCACCCCGTGGTTTGCTAA
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CAGTTACAGGTGGAGAAACTGAGACCCATGGGGGTGCAAGGACTTGCCGAGGACCCAGAGCCCCTTGGGGGCAGAGCTGAGGCGGGGCCTGGCTTTGGGTCCCAGAGCTTCCAGTCCCCTTCCCGCTCTCCTAACAGCTTTTTTTTTTGAGACAAGATCTCACCCTGTCACCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAATCTTCGCTAGCTGCGTTCCAGCGATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTGTGCCGCCATGCCCAGCTCGTTTTTTTTTGTACTTTTAGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAAATGATCCGCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCTGGGATCACACTGTGCCTGGCCCTAGCAGCTTTGTCCTGTGCCATCCAACAACAGATGACCGAAGTCTTTGTTTCTTAACATGCATTCCATCTGCCTTACAGTTTTGCCACCTGCAAAACAGAGGACTTGTCGCTTTTCTGGTAAGCTGGAAATGTAATCTGGTAGCAGGAGGCCTGTGGAAGCTTGCCTTTAATGGCCTTGTGTCTCTTTCATCCTGTCCTGAGAGCCGGAGAACTTGGATGTTGCGCCTAACTCAACCTTCCTGTTAACATACAGTTCTGCAGGCTCATGGATCATCAGAACCACGTCCTATCTCACGCGGCTGTATGCTTCCGTTGGTTCAGGTGTTTTTACCTTGACAGTATTTTCTCCTCGGTGGCTTTTGCGGTGGTTGCTTTTAATCAGCATTGACTCTTCAAGAAAAATATTTAGCTGCTACATCTCAGAGGAGACAGGGTGGAAAGCATCTGAGACCTGCAGGCTCAGACTTAGAACCAGAAGTGCCCTCAGAGTTCATCCGGCCCTGACCCAGCGGGAAATGAGTTCACAGAGAAGCGGGAGAACTTTGCCCCAGGCCCTGCCGTTGCTCATAACTGCCCCAGGTCCTTACATTTGCTCCAGGTCCTGCCCCAGGCCCTGCAGTTGCTCATAACTGCCCCAGGTCCTTATATTTGCTCCAGGTCCTGCCCCAGGTCCTGCAGTTGCTCTGTGTGGTGGGTGTGATCTGGAGCCCTCCGCCCATTGCTGCACCTGGGGCAGGCATTGCTAATTGATCCCAGGACTCCTTCCTGCGGAGCACGCCCTGGTTCTCCAGGCAGCCGCTGCCTGTCAGCCTGCAGTGGTTCGGGAGAGGACACCTGCTTGCCTGGTCTGTTCCAAATCTTGCTTCTCATCCCAGCACAGGTAGGGGGTGCTATGGGAAAGGGATCCTCAGCTGGCCCTGTCACTGCTCTATCAGCTGGGGACGTGGCATCCTAGTGAAAACATCATGGCCGGGCGCGGTGGCTCACGCCTGGAATCCCAGCACTTTGGGAGGCTGAGGAGGGTGGATCACTTGAGGTCAGAAGTTCGAGACCAGCCTGGTCAACATGGTGAAACCCATCTCTACTAAAAATACAAAAATTCGCCAGGTGTGGTGGCGGGTACCTGTAATCCGAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCCGAGATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACGCTGTCTCAAAATCTCAAACAAACAAACAAACAAAAAACAAACAAACAAAGCGTCATTTATCCAGCACCCCTGGGGAACCATGCTACCTGGTGTTTTATGGTACCTGGCAAGGTGCAGGTAAAGTTGCGGCTCTTGGGCATTGAACCCGTCTTGTTTGGGGCAGCTCAGGCCCCAGGCAGGGTCCGGGTTGGCTCTCGTTGGTGTGGCCCTGGCCCATCCAGACCTATATTTCTGCCGTCCTGCAGGTGATCAATGTTGATGGGACGAAGAGGCGGACCCTCCTGGAGGACAAGCTCCCGCACATTTTTGGGTTCACGCTGCTGGGGGACTTCATCTACTGGACTGACTGGCAGCGCCGCAGCATCGAGCAGGTGCACAAGGTCAAGGCCAGCCGGGACGTCATCATTGACCAGCTGCCCGACCTGATGGGGCTCAAAGCTGTGAATGTGGCCAAGGTCGTCGGTGAGTCCGGGGGGTCCCAAGCCATGGCTCAGCCATGCAGACTTGCATGAGGAGGAAGTGACGGGTCCATGCCTGGGCATAAGTGTTGAGCTCAGGTGCCCCGACCTGGGGAAGGGCAGGACAGGAAAGGTGACAGTATCTGGCCAAGGACAGATGGGAAGGGACCAAGGGAGCTGATTAGGGAGTGGTTATGGACTAGGAATGTCGGTAACAATGGTTAGAAAGTGACTAACATTTGTTGAGCACCTGCTGTGTGCCCGGCCCTGGCCGGGAGCCTTCGTGCCCACAGTGACCCCGTCTGCAAATGTAGTTCCTTGCCCTACTCGCACTGGGGAGCAGGACGCAGAGCCGTGCAACTCACAGGTGCCAAGCTCAGGACTCCCTCCTGGGTCTGCCTGGGCTGGGCTGTGCTTGTTGCCCCTGTGGCCCACGCATGTGCACCTTCCACCTGAAAGCCAGGATCTTCAGGACGCTCCCCGAGGAGGTCGTTGTCTGGCACAATGATTTGTCTCTTCCTGAAAAGGTGACAGAGTTACACTGGAGAGAGCAGCATCCAGGTGCGGCAGGGACAGGCCTGGGGCTCGCGGGCAGGGACTCTGTGTCCTGCCGGGGTCCCACACTGCACCTGCTTGTCAGAGGCACTCAGTCAATCTTTGCTGATGAAGGATGAGAGGACAGAGGACGTGATGCTTGCTGCTGCATTGCCTGCAGTCCTGGGTGAGATGCCCGGGTTGACTCTGCTGCCCGTCGGGTGGATGTGATGTCAGATCCCCGGCTTTAAAATACGAGGGAGCTGGGAATTGAGGGAGCAGGTTGGGGCAGAAAGCACAGCCCCGTGGAAGCCTGGAGCTGAGGCAGTGTGGGCGACCCCTGGAGCAGTGAGTGCTTCCTTCATGGCCTTCATCGCACCCTGCAGTCCTCATGTAGGGGATGCAATCCATGAATTTAGTTTTCCCAGCCTCCTTTAAAAACGCGTTCATGCTGGGGCCGGGGCAGTGCAGTGGCTCACATCTGAAATCCCACCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAGTCCAAAAAAAAAAAAATTAGTCTGGGTGTGGTATCACGCGCCTATAATCTCACTACTCGAGAGGCTGAGGCGGAGAATTGCTTGAACCCAGGAGGTAGAGGTTGTAGTGAGCCCGTATCGTACCACTGCCCTCCACCTGGGCAATAGAGCGAGACTCTGTCTCAAAAAGAAAAAAAAAAAAAGAACATTTATGCCAGGTGTGGTGGCTCATGCCTGAAATCCCAGAACTTTGGAAGACTGAGGCAGGAGGATCACTTGAGCCCAGAAATTTGAGAGTGTCTTCCCTGGGCAACATAGAGAGACCTCATCTCTACCAGAAAAAAAAAAATTAGCCCGGCATGGTGGCATATCCCTGTGGTCCCAGCTACTTAGGGGGCTGACGTGGCAGGATCACCTGAGTCTGGAGGCAGAGGTTGAAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGACAGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAGCATTTACTATCCACCATGGAAGGTGAGACTGACCTGTGAGTGATTGTTCAAAGAACAAAAAATAAACCCCAGAGATAAGACAAAAGGGTGCCTCCATGGGGGTGTGATTTAAAGCTGAGAAATTGGGCTTCTTCCCCCTCCCCTCTCACCCCGTGGTTTGCTAA
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Task1_train_16182
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This mutation occurs in LRP5 (LDL receptor related protein 5) on Chromosome 11. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Inborn genetic diseases
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CAGTTACAGGTGGAGAAACTGAGACCCATGGGGGTGCAAGGACTTGCCGAGGACCCAGAGCCCCTTGGGGGCAGAGCTGAGGCGGGGCCTGGCTTTGGGTCCCAGAGCTTCCAGTCCCCTTCCCGCTCTCCTAACAGCTTTTTTTTTTGAGACAAGATCTCACCCTGTCACCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAATCTTCGCTAGCTGCGTTCCAGCGATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTGTGCCGCCATGCCCAGCTCGTTTTTTTTTGTACTTTTAGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAAATGATCCGCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCTGGGATCACACTGTGCCTGGCCCTAGCAGCTTTGTCCTGTGCCATCCAACAACAGATGACCGAAGTCTTTGTTTCTTAACATGCATTCCATCTGCCTTACAGTTTTGCCACCTGCAAAACAGAGGACTTGTCGCTTTTCTGGTAAGCTGGAAATGTAATCTGGTAGCAGGAGGCCTGTGGAAGCTTGCCTTTAATGGCCTTGTGTCTCTTTCATCCTGTCCTGAGAGCCGGAGAACTTGGATGTTGCGCCTAACTCAACCTTCCTGTTAACATACAGTTCTGCAGGCTCATGGATCATCAGAACCACGTCCTATCTCACGCGGCTGTATGCTTCCGTTGGTTCAGGTGTTTTTACCTTGACAGTATTTTCTCCTCGGTGGCTTTTGCGGTGGTTGCTTTTAATCAGCATTGACTCTTCAAGAAAAATATTTAGCTGCTACATCTCAGAGGAGACAGGGTGGAAAGCATCTGAGACCTGCAGGCTCAGACTTAGAACCAGAAGTGCCCTCAGAGTTCATCCGGCCCTGACCCAGCGGGAAATGAGTTCACAGAGAAGCGGGAGAACTTTGCCCCAGGCCCTGCCGTTGCTCATAACTGCCCCAGGTCCTTACATTTGCTCCAGGTCCTGCCCCAGGCCCTGCAGTTGCTCATAACTGCCCCAGGTCCTTATATTTGCTCCAGGTCCTGCCCCAGGTCCTGCAGTTGCTCTGTGTGGTGGGTGTGATCTGGAGCCCTCCGCCCATTGCTGCACCTGGGGCAGGCATTGCTAATTGATCCCAGGACTCCTTCCTGCGGAGCACGCCCTGGTTCTCCAGGCAGCCGCTGCCTGTCAGCCTGCAGTGGTTCGGGAGAGGACACCTGCTTGCCTGGTCTGTTCCAAATCTTGCTTCTCATCCCAGCACAGGTAGGGGGTGCTATGGGAAAGGGATCCTCAGCTGGCCCTGTCACTGCTCTATCAGCTGGGGACGTGGCATCCTAGTGAAAACATCATGGCCGGGCGCGGTGGCTCACGCCTGGAATCCCAGCACTTTGGGAGGCTGAGGAGGGTGGATCACTTGAGGTCAGAAGTTCGAGACCAGCCTGGTCAACATGGTGAAACCCATCTCTACTAAAAATACAAAAATTCGCCAGGTGTGGTGGCGGGTACCTGTAATCCGAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCCGAGATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACGCTGTCTCAAAATCTCAAACAAACAAACAAACAAAAAACAAACAAACAAAGCGTCATTTATCCAGCACCCCTGGGGAACCATGCTACCTGGTGTTTTATGGTACCTGGCAAGGTGCAGGTAAAGTTGCGGCTCTTGGGCATTGAACCCGTCTTGTTTGGGGCAGCTCAGGCCCCAGGCAGGGTCCGGGTTGGCTCTCGTTGGTGTGGCCCTGGCCCATCCAGACCTATATTTCTGCCGTCCTGCAGGTGATCAATGTTGATGGGACGAAGAGGCGGACCCTCCTGGAGGACAAGCTCCCGCACATTTTTGGGTTCACGCTGCTGGGGGACTTCATCTACTGGACTGACTGGCAGCGCCGCAGCATCGAGCGGGTGCACAAGGTCAAGGCCAGCCGGGACGTCATCATTGACCAGCTGCCCGACCTGATGGGGCTCAAAGCTGTGAATGTGGCCAAGGTCGTCGGTGAGTCCGGGGGGTCCCAAGCCATGGCTCAGCCATGCAGACTTGCATGAGGAGGAAGTGACGGGTCCATGCCTGGGCATAAGTGTTGAGCTCAGGTGCCCCGACCTGGGGAAGGGCAGGACAGGAAAGGTGACAGTATCTGGCCAAGGACAGATGGGAAGGGACCAAGGGAGCTGATTAGGGAGTGGTTATGGACTAGGAATGTCGGTAACAATGGTTAGAAAGTGACTAACATTTGTTGAGCACCTGCTGTGTGCCCGGCCCTGGCCGGGAGCCTTCGTGCCCACAGTGACCCCGTCTGCAAATGTAGTTCCTTGCCCTACTCGCACTGGGGAGCAGGACGCAGAGCCGTGCAACTCACAGGTGCCAAGCTCAGGACTCCCTCCTGGGTCTGCCTGGGCTGGGCTGTGCTTGTTGCCCCTGTGGCCCACGCATGTGCACCTTCCACCTGAAAGCCAGGATCTTCAGGACGCTCCCCGAGGAGGTCGTTGTCTGGCACAATGATTTGTCTCTTCCTGAAAAGGTGACAGAGTTACACTGGAGAGAGCAGCATCCAGGTGCGGCAGGGACAGGCCTGGGGCTCGCGGGCAGGGACTCTGTGTCCTGCCGGGGTCCCACACTGCACCTGCTTGTCAGAGGCACTCAGTCAATCTTTGCTGATGAAGGATGAGAGGACAGAGGACGTGATGCTTGCTGCTGCATTGCCTGCAGTCCTGGGTGAGATGCCCGGGTTGACTCTGCTGCCCGTCGGGTGGATGTGATGTCAGATCCCCGGCTTTAAAATACGAGGGAGCTGGGAATTGAGGGAGCAGGTTGGGGCAGAAAGCACAGCCCCGTGGAAGCCTGGAGCTGAGGCAGTGTGGGCGACCCCTGGAGCAGTGAGTGCTTCCTTCATGGCCTTCATCGCACCCTGCAGTCCTCATGTAGGGGATGCAATCCATGAATTTAGTTTTCCCAGCCTCCTTTAAAAACGCGTTCATGCTGGGGCCGGGGCAGTGCAGTGGCTCACATCTGAAATCCCACCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAGTCCAAAAAAAAAAAAATTAGTCTGGGTGTGGTATCACGCGCCTATAATCTCACTACTCGAGAGGCTGAGGCGGAGAATTGCTTGAACCCAGGAGGTAGAGGTTGTAGTGAGCCCGTATCGTACCACTGCCCTCCACCTGGGCAATAGAGCGAGACTCTGTCTCAAAAAGAAAAAAAAAAAAAGAACATTTATGCCAGGTGTGGTGGCTCATGCCTGAAATCCCAGAACTTTGGAAGACTGAGGCAGGAGGATCACTTGAGCCCAGAAATTTGAGAGTGTCTTCCCTGGGCAACATAGAGAGACCTCATCTCTACCAGAAAAAAAAAAATTAGCCCGGCATGGTGGCATATCCCTGTGGTCCCAGCTACTTAGGGGGCTGACGTGGCAGGATCACCTGAGTCTGGAGGCAGAGGTTGAAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGACAGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAGCATTTACTATCCACCATGGAAGGTGAGACTGACCTGTGAGTGATTGTTCAAAGAACAAAAAATAAACCCCAGAGATAAGACAAAAGGGTGCCTCCATGGGGGTGTGATTTAAAGCTGAGAAATTGGGCTTCTTCCCCCTCCCCTCTCACCCCGTGGTTTGCTAA
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CAGTTACAGGTGGAGAAACTGAGACCCATGGGGGTGCAAGGACTTGCCGAGGACCCAGAGCCCCTTGGGGGCAGAGCTGAGGCGGGGCCTGGCTTTGGGTCCCAGAGCTTCCAGTCCCCTTCCCGCTCTCCTAACAGCTTTTTTTTTTGAGACAAGATCTCACCCTGTCACCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAATCTTCGCTAGCTGCGTTCCAGCGATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTGTGCCGCCATGCCCAGCTCGTTTTTTTTTGTACTTTTAGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAAATGATCCGCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCTGGGATCACACTGTGCCTGGCCCTAGCAGCTTTGTCCTGTGCCATCCAACAACAGATGACCGAAGTCTTTGTTTCTTAACATGCATTCCATCTGCCTTACAGTTTTGCCACCTGCAAAACAGAGGACTTGTCGCTTTTCTGGTAAGCTGGAAATGTAATCTGGTAGCAGGAGGCCTGTGGAAGCTTGCCTTTAATGGCCTTGTGTCTCTTTCATCCTGTCCTGAGAGCCGGAGAACTTGGATGTTGCGCCTAACTCAACCTTCCTGTTAACATACAGTTCTGCAGGCTCATGGATCATCAGAACCACGTCCTATCTCACGCGGCTGTATGCTTCCGTTGGTTCAGGTGTTTTTACCTTGACAGTATTTTCTCCTCGGTGGCTTTTGCGGTGGTTGCTTTTAATCAGCATTGACTCTTCAAGAAAAATATTTAGCTGCTACATCTCAGAGGAGACAGGGTGGAAAGCATCTGAGACCTGCAGGCTCAGACTTAGAACCAGAAGTGCCCTCAGAGTTCATCCGGCCCTGACCCAGCGGGAAATGAGTTCACAGAGAAGCGGGAGAACTTTGCCCCAGGCCCTGCCGTTGCTCATAACTGCCCCAGGTCCTTACATTTGCTCCAGGTCCTGCCCCAGGCCCTGCAGTTGCTCATAACTGCCCCAGGTCCTTATATTTGCTCCAGGTCCTGCCCCAGGTCCTGCAGTTGCTCTGTGTGGTGGGTGTGATCTGGAGCCCTCCGCCCATTGCTGCACCTGGGGCAGGCATTGCTAATTGATCCCAGGACTCCTTCCTGCGGAGCACGCCCTGGTTCTCCAGGCAGCCGCTGCCTGTCAGCCTGCAGTGGTTCGGGAGAGGACACCTGCTTGCCTGGTCTGTTCCAAATCTTGCTTCTCATCCCAGCACAGGTAGGGGGTGCTATGGGAAAGGGATCCTCAGCTGGCCCTGTCACTGCTCTATCAGCTGGGGACGTGGCATCCTAGTGAAAACATCATGGCCGGGCGCGGTGGCTCACGCCTGGAATCCCAGCACTTTGGGAGGCTGAGGAGGGTGGATCACTTGAGGTCAGAAGTTCGAGACCAGCCTGGTCAACATGGTGAAACCCATCTCTACTAAAAATACAAAAATTCGCCAGGTGTGGTGGCGGGTACCTGTAATCCGAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCCGAGATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACGCTGTCTCAAAATCTCAAACAAACAAACAAACAAAAAACAAACAAACAAAGCGTCATTTATCCAGCACCCCTGGGGAACCATGCTACCTGGTGTTTTATGGTACCTGGCAAGGTGCAGGTAAAGTTGCGGCTCTTGGGCATTGAACCCGTCTTGTTTGGGGCAGCTCAGGCCCCAGGCAGGGTCCGGGTTGGCTCTCGTTGGTGTGGCCCTGGCCCATCCAGACCTATATTTCTGCCGTCCTGCAGGTGATCAATGTTGATGGGACGAAGAGGCGGACCCTCCTGGAGGACAAGCTCCCGCACATTTTTGGGTTCACGCTGCTGGGGGACTTCATCTACTGGACTGACTGGCAGCGCCGCAGCATCGAGCAGGTGCACAAGGTCAAGGCCAGCCGGGACGTCATCATTGACCAGCTGCCCGACCTGATGGGGCTCAAAGCTGTGAATGTGGCCAAGGTCGTCGGTGAGTCCGGGGGGTCCCAAGCCATGGCTCAGCCATGCAGACTTGCATGAGGAGGAAGTGACGGGTCCATGCCTGGGCATAAGTGTTGAGCTCAGGTGCCCCGACCTGGGGAAGGGCAGGACAGGAAAGGTGACAGTATCTGGCCAAGGACAGATGGGAAGGGACCAAGGGAGCTGATTAGGGAGTGGTTATGGACTAGGAATGTCGGTAACAATGGTTAGAAAGTGACTAACATTTGTTGAGCACCTGCTGTGTGCCCGGCCCTGGCCGGGAGCCTTCGTGCCCACAGTGACCCCGTCTGCAAATGTAGTTCCTTGCCCTACTCGCACTGGGGAGCAGGACGCAGAGCCGTGCAACTCACAGGTGCCAAGCTCAGGACTCCCTCCTGGGTCTGCCTGGGCTGGGCTGTGCTTGTTGCCCCTGTGGCCCACGCATGTGCACCTTCCACCTGAAAGCCAGGATCTTCAGGACGCTCCCCGAGGAGGTCGTTGTCTGGCACAATGATTTGTCTCTTCCTGAAAAGGTGACAGAGTTACACTGGAGAGAGCAGCATCCAGGTGCGGCAGGGACAGGCCTGGGGCTCGCGGGCAGGGACTCTGTGTCCTGCCGGGGTCCCACACTGCACCTGCTTGTCAGAGGCACTCAGTCAATCTTTGCTGATGAAGGATGAGAGGACAGAGGACGTGATGCTTGCTGCTGCATTGCCTGCAGTCCTGGGTGAGATGCCCGGGTTGACTCTGCTGCCCGTCGGGTGGATGTGATGTCAGATCCCCGGCTTTAAAATACGAGGGAGCTGGGAATTGAGGGAGCAGGTTGGGGCAGAAAGCACAGCCCCGTGGAAGCCTGGAGCTGAGGCAGTGTGGGCGACCCCTGGAGCAGTGAGTGCTTCCTTCATGGCCTTCATCGCACCCTGCAGTCCTCATGTAGGGGATGCAATCCATGAATTTAGTTTTCCCAGCCTCCTTTAAAAACGCGTTCATGCTGGGGCCGGGGCAGTGCAGTGGCTCACATCTGAAATCCCACCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAGTCCAAAAAAAAAAAAATTAGTCTGGGTGTGGTATCACGCGCCTATAATCTCACTACTCGAGAGGCTGAGGCGGAGAATTGCTTGAACCCAGGAGGTAGAGGTTGTAGTGAGCCCGTATCGTACCACTGCCCTCCACCTGGGCAATAGAGCGAGACTCTGTCTCAAAAAGAAAAAAAAAAAAAGAACATTTATGCCAGGTGTGGTGGCTCATGCCTGAAATCCCAGAACTTTGGAAGACTGAGGCAGGAGGATCACTTGAGCCCAGAAATTTGAGAGTGTCTTCCCTGGGCAACATAGAGAGACCTCATCTCTACCAGAAAAAAAAAAATTAGCCCGGCATGGTGGCATATCCCTGTGGTCCCAGCTACTTAGGGGGCTGACGTGGCAGGATCACCTGAGTCTGGAGGCAGAGGTTGAAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGACAGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAGCATTTACTATCCACCATGGAAGGTGAGACTGACCTGTGAGTGATTGTTCAAAGAACAAAAAATAAACCCCAGAGATAAGACAAAAGGGTGCCTCCATGGGGGTGTGATTTAAAGCTGAGAAATTGGGCTTCTTCCCCCTCCCCTCTCACCCCGTGGTTTGCTAA
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Task1_train_16183
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Assess the clinical impact of this variant on gene LRP5 (LDL receptor related protein 5), found on Chromosome 11. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Retinal dystrophy
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GAGGGAGCAGGTTGGGGCAGAAAGCACAGCCCCGTGGAAGCCTGGAGCTGAGGCAGTGTGGGCGACCCCTGGAGCAGTGAGTGCTTCCTTCATGGCCTTCATCGCACCCTGCAGTCCTCATGTAGGGGATGCAATCCATGAATTTAGTTTTCCCAGCCTCCTTTAAAAACGCGTTCATGCTGGGGCCGGGGCAGTGCAGTGGCTCACATCTGAAATCCCACCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAGTCCAAAAAAAAAAAAATTAGTCTGGGTGTGGTATCACGCGCCTATAATCTCACTACTCGAGAGGCTGAGGCGGAGAATTGCTTGAACCCAGGAGGTAGAGGTTGTAGTGAGCCCGTATCGTACCACTGCCCTCCACCTGGGCAATAGAGCGAGACTCTGTCTCAAAAAGAAAAAAAAAAAAAGAACATTTATGCCAGGTGTGGTGGCTCATGCCTGAAATCCCAGAACTTTGGAAGACTGAGGCAGGAGGATCACTTGAGCCCAGAAATTTGAGAGTGTCTTCCCTGGGCAACATAGAGAGACCTCATCTCTACCAGAAAAAAAAAAATTAGCCCGGCATGGTGGCATATCCCTGTGGTCCCAGCTACTTAGGGGGCTGACGTGGCAGGATCACCTGAGTCTGGAGGCAGAGGTTGAAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGACAGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAGCATTTACTATCCACCATGGAAGGTGAGACTGACCTGTGAGTGATTGTTCAAAGAACAAAAAATAAACCCCAGAGATAAGACAAAAGGGTGCCTCCATGGGGGTGTGATTTAAAGCTGAGAAATTGGGCTTCTTCCCCCTCCCCTCTCACCCCGTGGTTTGCTAAAGGAGATGGGAAAAAGGATTCTTTTTTTGGCTGAAATATTTAACACTAAATTAAAGCCAATTTTAACAGCACTTTGGTTGATGAGTGAAATTAACAGACTGGCCAAAAATAAACGAACGGTCTGTACTATGTGAAAAAGAGGCAGCTTTGGCCATGCTGGGCCAATGTGAGTTTTCAGGGTTGCTGGGAATGTCTGTGAATCGGAGGAAGGGCCTAGCTGGGACTCTCAGGAGCCAAGGCCCTGAGGGGCAACTTGCCTGGTCCCTGCCCTGAGGCGTTCACTGCTTTCTTCCTGGGCCAGATCGCAGGCCCGGAGGCTGGACCACTGGGCTGGCACTCTTGCCGAGCTGCTCCCTGACTTCCTGACCATGCTCCTTTCAGCAGCCTTGCTGCACTTTAGTTTCCTTGAATGAAAAATGGGGATGAGAATAGCTCCTACCTCCAAGGTGAATGGAGTGAGTTCGGACAGGTGACTCCCTGGGACCAGTGCCTGGCGCCTGACAAGGTCCAGTCAGAGCCCGCACTGCTGTTACTGATACCCTTGGCTGTACCAGGGGAGAACTTGGTTGCCATTGCCAGGTGTTCTCCCACCACCCCCACTACTGTCCCTGTTTGATGTGTGGCGGGAATAAAGCTGTGCACATTGGAGCTTTTGGCACATCCTGGCTTTCAGGTGAAAGGTGCGTGTGTGTTTGAGGGTTTAGCCTGGCCAACCCAGCCATGAGGTCGGACCTGACCCGGGGGTGAGTCCTGAGCTCGGCACCCCTGAGCTGTGTGGCTCACGGCAGCATTCATTGTGTGGCTTGGCCGCACCCCTTTCCCTGCTGGGCTGTTGATGTTTAGACTGGAGCCTCTGTGTTCGCTTCCAGGAACCAACCCGTGTGCGGACAGGAACGGGGGGTGCAGCCACCTGTGCTTCTTCACACCCCACGCAACCCGGTGTGGCTGCCCCATCGGCCTGGAGCTGCTGAGTGACATGAAGACCTGCATCGTGCCTGAGGCCTTCTTGGTCTTCACCAGCAGAGCCGCCATCCACAGGATCTCCCTCGAGACCAATAACAACGACGTGGCCATCCCGCTCACGGGCGTCAAGGAGGCCTCAGCCCTGGACTTTGATGTGTCCAACAACCACATCTACTGGACAGACGTCAGCCTGAAGGTAGCGTGGGCCAGAACGTGCACACAGGCAGCCTTTATGGGAAAACCTTGCCTCTGTTCCTGCCTCAAAGGCTTCAGACACTTTTCTTAAAGCACTATCGTATTTATTGTAACGCAGTTCAAGCTAATCAAATATGAGCAAGCCTATTTAAAAAAAAAAAGATGATTATAATGAGCAAGTCCGGTAGACACACATAAGGGCTTTTGTGAAATGCTTGTGTGAATGTGAAATATTTGTTGTCCGTTGAGCTTGACTTCAGACACCCCACCCACTCCCTTGTCGGTGCCCGTTTGCTCAGCAGACTCTTTCTTCATTTATAGTGCAAATGTAAACATCCAGGACAAATACAGGAAGACTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCTGTTGCCCAGGCTGGAGTACCGTAGCGTGAGCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGACATGCACCACCACACCCAGCTAATTTTTTTTATATTTTTAGTAGAGACAGGGTTTCATCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGAGATAACAGGTGTGAGCCACCGTTCCCGGCCTAGGAAAACTTTTTGCCTTCTAAAGAAGAGTTTAGCAAACTAGTCTGTGGGCTGGCCTTCTGATTCTGTAAAGAAAGTTTGATTGGTGGCTGGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTCACCCACGTGGAGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAATTAACCGGGCATGGCGGCGCCTGCCTGTAATCGCAGCTACTCAGGAGGCTGAAGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATGGCACCATTGCACTCCAGCCTGGGCAACCAAAGTGAAACTCCGTCTCAGAAAAAAAAAAGTTTGATTGGTGTAACCAAAGCGCATCTGTTTATGGATTGTCTGTGGCAGCTTTTGTTCTGCCGAGATGAGTTGTGACAGATCTGTATGGGCTCTAAAGCCTAAAACATGTGCCATCCGCCCCTTTACAGAAAAAGTGTGCTGACCTCTGTTCTAAAGTATTGGACAACTACAATGTTTGCTCATTTATTATTCTATGATTTGTTTTCTGCTTTTTGTTGTTGTTGTTGTTGTTGAGATAGGGTTTCCCTCTGTCACTCAGGCTGGAGTGCAGTGGTGTAATCTCAGCTCACTGCAGCCTCGACCTCCTGGGCTCTAGTGATCCTCTCATCTCAGCCTCCCTAGTAGCTGGGACTACAGGCACACACCACCACTCCTGGCTGATTTTTTTTTTTTTTTTTTTTTTTTTGGGGAGACAGGGTTTCCGCATGTTGCCCAGGCTGGTTTCAAACTCCTAGGCTCAAACACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAGCCTATTCTACTGTTTGTATTACATAGCTTTAAAAGATTTTTTATGACTTTAAGTCACAAGGGTTCTTTGTAGAAAAAAAAATATATATAGGAAAGTATAAAAAGAAAGTAAAAATTGTCCATAACCTCTCCAGCCAGAGACGACCGTTGCTGACACCTCAGCATATTGCCTTTAAGTCTTTTTTCTCTAAGATAGCATTTCTCTTCATCACAGTCATA
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GAGGGAGCAGGTTGGGGCAGAAAGCACAGCCCCGTGGAAGCCTGGAGCTGAGGCAGTGTGGGCGACCCCTGGAGCAGTGAGTGCTTCCTTCATGGCCTTCATCGCACCCTGCAGTCCTCATGTAGGGGATGCAATCCATGAATTTAGTTTTCCCAGCCTCCTTTAAAAACGCGTTCATGCTGGGGCCGGGGCAGTGCAGTGGCTCACATCTGAAATCCCACCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAGTCCAAAAAAAAAAAAATTAGTCTGGGTGTGGTATCACGCGCCTATAATCTCACTACTCGAGAGGCTGAGGCGGAGAATTGCTTGAACCCAGGAGGTAGAGGTTGTAGTGAGCCCGTATCGTACCACTGCCCTCCACCTGGGCAATAGAGCGAGACTCTGTCTCAAAAAGAAAAAAAAAAAAAGAACATTTATGCCAGGTGTGGTGGCTCATGCCTGAAATCCCAGAACTTTGGAAGACTGAGGCAGGAGGATCACTTGAGCCCAGAAATTTGAGAGTGTCTTCCCTGGGCAACATAGAGAGACCTCATCTCTACCAGAAAAAAAAAAATTAGCCCGGCATGGTGGCATATCCCTGTGGTCCCAGCTACTTAGGGGGCTGACGTGGCAGGATCACCTGAGTCTGGAGGCAGAGGTTGAAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGACAGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAGCATTTACTATCCACCATGGAAGGTGAGACTGACCTGTGAGTGATTGTTCAAAGAACAAAAAATAAACCCCAGAGATAAGACAAAAGGGTGCCTCCATGGGGGTGTGATTTAAAGCTGAGAAATTGGGCTTCTTCCCCCTCCCCTCTCACCCCGTGGTTTGCTAAAGGAGATGGGAAAAAGGATTCTTTTTTTGGCTGAAATATTTAACACTAAATTAAAGCCAATTTTAACAGCACTTTGGTTGATGAGTGAAATTAACAGACTGGCCAAAAATAAACGAACGGTCTGTACTATGTGAAAAAGAGGCAGCTTTGGCCATGCTGGGCCAATGTGAGTTTTCAGGGTTGCTGGGAATGTCTGTGAATCGGAGGAAGGGCCTAGCTGGGACTCTCAGGAGCCAAGGCCCTGAGGGGCAACTTGCCTGGTCCCTGCCCTGAGGCGTTCACTGCTTTCTTCCTGGGCCAGATCGCAGGCCCGGAGGCTGGACCACTGGGCTGGCACTCTTGCCGAGCTGCTCCCTGACTTCCTGACCATGCTCCTTTCAGCAGCCTTGCTGCACTTTAGTTTCCTTGAATGAAAAATGGGGATGAGAATAGCTCCTACCTCCAAGGTGAATGGAGTGAGTTCGGACAGGTGACTCCCTGGGACCAGTGCCTGGCGCCTGACAAGGTCCAGTCAGAGCCCGCACTGCTGTTACTGATACCCTTGGCTGTACCAGGGGAGAACTTGGTTGCCATTGCCAGGTGTTCTCCCACCACCCCCACTACTGTCCCTGTTTGATGTGTGGCGGGAATAAAGCTGTGCACATTGGAGCTTTTGGCACATCCTGGCTTTCAGGTGAAAGGTGCGTGTGTGTTTGAGGGTTTAGCCTGGCCAACCCAGCCATGAGGTCGGACCTGACCCGGGGGTGAGTCCTGAGCTCGGCACCCCTGAGCTGTGTGGCTCACGGCAGCATTCATTGTGTGGCTTGGCCGCACCCCTTTCCCTGCTGGGCTGTTGATGTTTAGACTGGAGCCTCTGTGTTCGCTTCCAGGAACCAACCCGTGTGCGGACAGGAACAGGGGGTGCAGCCACCTGTGCTTCTTCACACCCCACGCAACCCGGTGTGGCTGCCCCATCGGCCTGGAGCTGCTGAGTGACATGAAGACCTGCATCGTGCCTGAGGCCTTCTTGGTCTTCACCAGCAGAGCCGCCATCCACAGGATCTCCCTCGAGACCAATAACAACGACGTGGCCATCCCGCTCACGGGCGTCAAGGAGGCCTCAGCCCTGGACTTTGATGTGTCCAACAACCACATCTACTGGACAGACGTCAGCCTGAAGGTAGCGTGGGCCAGAACGTGCACACAGGCAGCCTTTATGGGAAAACCTTGCCTCTGTTCCTGCCTCAAAGGCTTCAGACACTTTTCTTAAAGCACTATCGTATTTATTGTAACGCAGTTCAAGCTAATCAAATATGAGCAAGCCTATTTAAAAAAAAAAAGATGATTATAATGAGCAAGTCCGGTAGACACACATAAGGGCTTTTGTGAAATGCTTGTGTGAATGTGAAATATTTGTTGTCCGTTGAGCTTGACTTCAGACACCCCACCCACTCCCTTGTCGGTGCCCGTTTGCTCAGCAGACTCTTTCTTCATTTATAGTGCAAATGTAAACATCCAGGACAAATACAGGAAGACTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCTGTTGCCCAGGCTGGAGTACCGTAGCGTGAGCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGACATGCACCACCACACCCAGCTAATTTTTTTTATATTTTTAGTAGAGACAGGGTTTCATCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGAGATAACAGGTGTGAGCCACCGTTCCCGGCCTAGGAAAACTTTTTGCCTTCTAAAGAAGAGTTTAGCAAACTAGTCTGTGGGCTGGCCTTCTGATTCTGTAAAGAAAGTTTGATTGGTGGCTGGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTCACCCACGTGGAGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAATTAACCGGGCATGGCGGCGCCTGCCTGTAATCGCAGCTACTCAGGAGGCTGAAGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATGGCACCATTGCACTCCAGCCTGGGCAACCAAAGTGAAACTCCGTCTCAGAAAAAAAAAAGTTTGATTGGTGTAACCAAAGCGCATCTGTTTATGGATTGTCTGTGGCAGCTTTTGTTCTGCCGAGATGAGTTGTGACAGATCTGTATGGGCTCTAAAGCCTAAAACATGTGCCATCCGCCCCTTTACAGAAAAAGTGTGCTGACCTCTGTTCTAAAGTATTGGACAACTACAATGTTTGCTCATTTATTATTCTATGATTTGTTTTCTGCTTTTTGTTGTTGTTGTTGTTGTTGAGATAGGGTTTCCCTCTGTCACTCAGGCTGGAGTGCAGTGGTGTAATCTCAGCTCACTGCAGCCTCGACCTCCTGGGCTCTAGTGATCCTCTCATCTCAGCCTCCCTAGTAGCTGGGACTACAGGCACACACCACCACTCCTGGCTGATTTTTTTTTTTTTTTTTTTTTTTTTGGGGAGACAGGGTTTCCGCATGTTGCCCAGGCTGGTTTCAAACTCCTAGGCTCAAACACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAGCCTATTCTACTGTTTGTATTACATAGCTTTAAAAGATTTTTTATGACTTTAAGTCACAAGGGTTCTTTGTAGAAAAAAAAATATATATAGGAAAGTATAAAAAGAAAGTAAAAATTGTCCATAACCTCTCCAGCCAGAGACGACCGTTGCTGACACCTCAGCATATTGCCTTTAAGTCTTTTTTCTCTAAGATAGCATTTCTCTTCATCACAGTCATA
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Task1_train_16184
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A variant was discovered on Chromosome 11, affecting LRP5 (LDL receptor related protein 5). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; not provided
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CTACAATGTTTGCTCATTTATTATTCTATGATTTGTTTTCTGCTTTTTGTTGTTGTTGTTGTTGTTGAGATAGGGTTTCCCTCTGTCACTCAGGCTGGAGTGCAGTGGTGTAATCTCAGCTCACTGCAGCCTCGACCTCCTGGGCTCTAGTGATCCTCTCATCTCAGCCTCCCTAGTAGCTGGGACTACAGGCACACACCACCACTCCTGGCTGATTTTTTTTTTTTTTTTTTTTTTTTTGGGGAGACAGGGTTTCCGCATGTTGCCCAGGCTGGTTTCAAACTCCTAGGCTCAAACACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAGCCTATTCTACTGTTTGTATTACATAGCTTTAAAAGATTTTTTATGACTTTAAGTCACAAGGGTTCTTTGTAGAAAAAAAAATATATATAGGAAAGTATAAAAAGAAAGTAAAAATTGTCCATAACCTCTCCAGCCAGAGACGACCGTTGCTGACACCTCAGCATATTGCCTTTAAGTCTTTTTTCTCTAAGATAGCATTTCTCTTCATCACAGTCATATGCTACGCAGAATTCTGTATCCTGATTTTTTCACTTGACATTACAACAGGTATTTGATGGCGCTGTGACAAACTCTTTGGCACAATCTTTTAAATGTATGAAATACTCCACTGCACAGATGTTTGCTTTTAGGCTTAACTGTTCTTTTATTTTGCGTGTGCTGGTTACAGCCGGGCACAGTGGCTCATGCCTGTAATCACAACACTTTGAGAGGGTGAGGCAGGAGGATCACTTGAGCCCAGAAGTTTGAGACCGGCCTGGGCAACATAGTGAGACCCCATCTCTACAAAAAACTTTTTTAATAAGTCGGGCGTAGTGGTGCATAGCTGTAGTCCCAGCCACCAAGGAGGCTGAGTTGGGAGGATTGCTTGAGCCCCAGGAGGTTGATGCTGCAGTGACCTGAGATTACTCCACTGTACTCCAACCTGAGCGACAGAGCAAGACTTATCTGGGGAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATACACACACATACACGCACACACACATAATATAAAAATATATATTTATAAATATATAATATATAATATAAAAATATATATTTATAAATAAAATTTATAAATTATATTTATAAGTAAATATATAATATATAATATAAAATATATATTATATAATATATAATAAAATATATAATATAAAAATATATATTTATAAATAATATATAATACATACTTATAAGTATATATTTAAAATATATGTAATGTATATTTTTTAATGTATGATATATAATATACATTTATAAATACACATTTATATTATTTTATATAAAATATATATAAAATCTCCAAGTTGCTTTTTCCAAAAAGGTGTCTTGCTGCATTTCAAACATTCATTTAAAAACTTGAATGCTGGTGATCTGGTCCAGAATGTGTTCAGTAGCTGCTGCCAGTGGCCAAGCATCTCGGGAGATGTCTACAAAACACGCTGGTTCTGGCCTGGCGTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGCAGGTGGATCAACTGAGGTCTGGATTTCGAGACCAGCCTTGCCAGCTTGGTGAAACCCCATCTCTACTAAGAATACAAAAAAATTAGCCAGGCGTGGTGGCATGTGCCTGTAATCCCCACCTACTTGGGAGGCTAAGGCTGGAGAATCGCTTGAACCCAGGGGGCAGAGGTTGCAGTGAGCCGAGATCGCACCATTGCACTCCAGGCTGGGCAAGAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAGATGCTGGTTCCTAAAATGTGGCCCTTTTCCTCCTCACCTGCTGCCAGACCATCAGCCGCGCCTTCATGAACGGGAGCTCGGTGGAGCACGTGGTGGAGTTTGGCCTTGACTACCCCGAGGGCATGGCCGTTGACTGGATGGGCAAGAACCTCTACTGGGCCGACACTGGGACCAACAGAATCGAAGTGGCGCGGCTGGACGGGCAGTTCCGGCAAGTCCTCGTGTGGAGGGACTTGGACAACCCGAGGTCGCTGGCCCTGGATCCCACCAAGGGGTAAGTGTTTGCCTGTCCCGTGCGTCCTTGTGTTCACCTCGTATGAGACAGTGCGGGGGTGCCAACTGGGCAAGGTGGCAGGCTGTCCGTGTGGCCCTCGGTGATTAGAGCTGTACTGACGTCATTAGCCTTGATGGTGGCCAGGACTGGTAGGGCCCTCAGAGGTCATGGAGTTCCTTCGTGGAGCGGGTGCTGAGGCTGTATCAGGCACAGTGCTGGCTGCTTTCACCTGGGCCGTCTCACCGAAGTGTCCATGGAGCCTGCGTAGGGTGGGTATCTGTGTCGATTTTACAGATGCAGAAACAGGCTCAGAGAAACCGAGTGACTTCCCTAAGGTCACATACCCAGTTAGAGCAGAGCTGGGCCAGGAAGTGCTGTCTCAGGCTCCTGACCAGGTCTCCTTGCTTTGCACTCTTGCCAAAACCATGATCCAGAACTGACTTTGAGGTCCCCGGACCTCAGGCTCCTCCGAAATGGCCTCTTGGAGGCTGCTGAGCCACAGCTTAGGACCCACCTCGAGAGGCAAATGTGCTTTGAGCTGCCAGGCGTCCTGGGGGCCCTGCCTTGGGCACGGGGTTCAGACAGGCCCCAGATGTGTGGGGCGTCTTTCTGGACTTGAGTTTTCTTTTCTGTGTGGTGGACACAGTGCTCACCCCTTAAAGCACCTGTGATGTGTGCAGCAGCCCAATCCCTGCCTGTCGCCTGTTCTGCTAGGGAAGGAAGGAAGACTTCAGGATGGCAGGACAACAGAAAGAGGTCCAGGTTTTAGAGCAAGGGCAGGTCAAACTTAGAAAATTCTGGAATGAGGATGTGCATTTCCTCTTCTGGATCTGCTAAAAGAAGAGGGAAGGAGGGGCTGCTGGGGGAGGAGCCCAGAGCCGAGTTTACATCCGGATCCCGCAAGGCCTCCCCTGCCCTGAGGTCTTGTTTTGTGATGTGCTTGTGTCCATCCTGGTTTCTGCCGTGTCCCCAACATCCGGCCAAGCTTAGGTGGATGTTCCAGCACACACTCACCCTGTCTGTGCATCTGTTTTTGTGTCCGTAAGTGGGTATTTACTCGCCTTACGAGTGAGCCACTGTGGGAATTCAGGGAGGTGGCGCAGTGACCACCCCTGGAGGGATATGTGTGTGGCAGGGGTCGAGGGTCTCGCCCTTCCCTGCTTCCTGCGCGTGGCTTTCTCCAGGACGGGGAGGGCTGAGCTGAAGAGGTGGGGACAGTTGCGTCCCCCCGCCACCCACTGTCCTGCGGTGAGAGCAGACTCACTGAGCCTGCCCTTCTCCCTTGTGCCTTCCAGCTACATCTACTGGACCGAGTGGGGCGGCAAGCCGAGGATCGTGCGGGCCTTCATGGACGGGACCAACTGCATGACGCTGGTGGACAAGGTGGGCCGGGCCAACGACCTCACCATTGACTACGCTGACCAGCGCCTCTACTGGACCGACCTGGACACCAACATGATCGAGTCGTCCAACATGCTGGGTGAGGGCCGGGCTGGGGCCTTCTGGTCATGGAGGGCGGGGCAGCCGGGCGTTGGCCACCTCCCAGCCTCGCCGCACATACCCTGTGGCCTGCAAGTTCCCCAACCTGGCAGGAGCTGTGGCCACACCCACGACTGCCCAGCAGCCTCACCCTCTGCTGTGGGAGTTGTCCCCGTCCACCCCTGGGTGCCTTTGCTGCAGTTATGTCGGGAGAGGCTCTGGTGACAGCTGTTTCCTGTGCACCTGCTGGGCACTAGGTCCCAGCTAATCCCTGTGCCAGGACTCTAATTTCACCCTAACACACATGGTGGTTTTCATTGCTGGGGAAGCTGAGGCCTGAGCACATGACTTGCCTTAGGTCACATAGCTGGTGAGTTCAGGATCCCCCAGAGATACCAGGGCCAGCACTCGATCCCCACCCAGCCCTGAACCCCACCATGTGCTGGGATTGTGCTGGGAGTGTCCACACGCCCGGGACCCCAGGGCTGGTGCTCTCATCTCCTT
|
CTACAATGTTTGCTCATTTATTATTCTATGATTTGTTTTCTGCTTTTTGTTGTTGTTGTTGTTGTTGAGATAGGGTTTCCCTCTGTCACTCAGGCTGGAGTGCAGTGGTGTAATCTCAGCTCACTGCAGCCTCGACCTCCTGGGCTCTAGTGATCCTCTCATCTCAGCCTCCCTAGTAGCTGGGACTACAGGCACACACCACCACTCCTGGCTGATTTTTTTTTTTTTTTTTTTTTTTTTGGGGAGACAGGGTTTCCGCATGTTGCCCAGGCTGGTTTCAAACTCCTAGGCTCAAACACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAGCCTATTCTACTGTTTGTATTACATAGCTTTAAAAGATTTTTTATGACTTTAAGTCACAAGGGTTCTTTGTAGAAAAAAAAATATATATAGGAAAGTATAAAAAGAAAGTAAAAATTGTCCATAACCTCTCCAGCCAGAGACGACCGTTGCTGACACCTCAGCATATTGCCTTTAAGTCTTTTTTCTCTAAGATAGCATTTCTCTTCATCACAGTCATATGCTACGCAGAATTCTGTATCCTGATTTTTTCACTTGACATTACAACAGGTATTTGATGGCGCTGTGACAAACTCTTTGGCACAATCTTTTAAATGTATGAAATACTCCACTGCACAGATGTTTGCTTTTAGGCTTAACTGTTCTTTTATTTTGCGTGTGCTGGTTACAGCCGGGCACAGTGGCTCATGCCTGTAATCACAACACTTTGAGAGGGTGAGGCAGGAGGATCACTTGAGCCCAGAAGTTTGAGACCGGCCTGGGCAACATAGTGAGACCCCATCTCTACAAAAAACTTTTTTAATAAGTCGGGCGTAGTGGTGCATAGCTGTAGTCCCAGCCACCAAGGAGGCTGAGTTGGGAGGATTGCTTGAGCCCCAGGAGGTTGATGCTGCAGTGACCTGAGATTACTCCACTGTACTCCAACCTGAGCGACAGAGCAAGACTTATCTGGGGAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATACACACACATACACGCACACACACATAATATAAAAATATATATTTATAAATATATAATATATAATATAAAAATATATATTTATAAATAAAATTTATAAATTATATTTATAAGTAAATATATAATATATAATATAAAATATATATTATATAATATATAATAAAATATATAATATAAAAATATATATTTATAAATAATATATAATACATACTTATAAGTATATATTTAAAATATATGTAATGTATATTTTTTAATGTATGATATATAATATACATTTATAAATACACATTTATATTATTTTATATAAAATATATATAAAATCTCCAAGTTGCTTTTTCCAAAAAGGTGTCTTGCTGCATTTCAAACATTCATTTAAAAACTTGAATGCTGGTGATCTGGTCCAGAATGTGTTCAGTAGCTGCTGCCAGTGGCCAAGCATCTCGGGAGATGTCTACAAAACACGCTGGTTCTGGCCTGGCGTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGCAGGTGGATCAACTGAGGTCTGGATTTCGAGACCAGCCTTGCCAGCTTGGTGAAACCCCATCTCTACTAAGAATACAAAAAAATTAGCCAGGCGTGGTGGCATGTGCCTGTAATCCCCACCTACTTGGGAGGCTAAGGCTGGAGAATCGCTTGAACCCAGGGGGCAGAGGTTGCAGTGAGCCGAGATCGCACCATTGCACTCCAGGCTGGGCAAGAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAGATGCTGGTTCCTAAAATGTGGCCCTTTTCCTCCTCACCTGCTGCCAGACCATCAGCCGCGCCTTCATGAACGGGAGCTCGGTGGAGCACGTGGTGGAGTTTGGCCTTGACTACCCCGAGGGCATGGCCGTTGACTGGATGGGCAAGAACCTCTACTGGGCCGACACTGGGACCAACAGAATCGAAGTGGCGCGGCTGGACGGGCAGTTCGGGCAAGTCCTCGTGTGGAGGGACTTGGACAACCCGAGGTCGCTGGCCCTGGATCCCACCAAGGGGTAAGTGTTTGCCTGTCCCGTGCGTCCTTGTGTTCACCTCGTATGAGACAGTGCGGGGGTGCCAACTGGGCAAGGTGGCAGGCTGTCCGTGTGGCCCTCGGTGATTAGAGCTGTACTGACGTCATTAGCCTTGATGGTGGCCAGGACTGGTAGGGCCCTCAGAGGTCATGGAGTTCCTTCGTGGAGCGGGTGCTGAGGCTGTATCAGGCACAGTGCTGGCTGCTTTCACCTGGGCCGTCTCACCGAAGTGTCCATGGAGCCTGCGTAGGGTGGGTATCTGTGTCGATTTTACAGATGCAGAAACAGGCTCAGAGAAACCGAGTGACTTCCCTAAGGTCACATACCCAGTTAGAGCAGAGCTGGGCCAGGAAGTGCTGTCTCAGGCTCCTGACCAGGTCTCCTTGCTTTGCACTCTTGCCAAAACCATGATCCAGAACTGACTTTGAGGTCCCCGGACCTCAGGCTCCTCCGAAATGGCCTCTTGGAGGCTGCTGAGCCACAGCTTAGGACCCACCTCGAGAGGCAAATGTGCTTTGAGCTGCCAGGCGTCCTGGGGGCCCTGCCTTGGGCACGGGGTTCAGACAGGCCCCAGATGTGTGGGGCGTCTTTCTGGACTTGAGTTTTCTTTTCTGTGTGGTGGACACAGTGCTCACCCCTTAAAGCACCTGTGATGTGTGCAGCAGCCCAATCCCTGCCTGTCGCCTGTTCTGCTAGGGAAGGAAGGAAGACTTCAGGATGGCAGGACAACAGAAAGAGGTCCAGGTTTTAGAGCAAGGGCAGGTCAAACTTAGAAAATTCTGGAATGAGGATGTGCATTTCCTCTTCTGGATCTGCTAAAAGAAGAGGGAAGGAGGGGCTGCTGGGGGAGGAGCCCAGAGCCGAGTTTACATCCGGATCCCGCAAGGCCTCCCCTGCCCTGAGGTCTTGTTTTGTGATGTGCTTGTGTCCATCCTGGTTTCTGCCGTGTCCCCAACATCCGGCCAAGCTTAGGTGGATGTTCCAGCACACACTCACCCTGTCTGTGCATCTGTTTTTGTGTCCGTAAGTGGGTATTTACTCGCCTTACGAGTGAGCCACTGTGGGAATTCAGGGAGGTGGCGCAGTGACCACCCCTGGAGGGATATGTGTGTGGCAGGGGTCGAGGGTCTCGCCCTTCCCTGCTTCCTGCGCGTGGCTTTCTCCAGGACGGGGAGGGCTGAGCTGAAGAGGTGGGGACAGTTGCGTCCCCCCGCCACCCACTGTCCTGCGGTGAGAGCAGACTCACTGAGCCTGCCCTTCTCCCTTGTGCCTTCCAGCTACATCTACTGGACCGAGTGGGGCGGCAAGCCGAGGATCGTGCGGGCCTTCATGGACGGGACCAACTGCATGACGCTGGTGGACAAGGTGGGCCGGGCCAACGACCTCACCATTGACTACGCTGACCAGCGCCTCTACTGGACCGACCTGGACACCAACATGATCGAGTCGTCCAACATGCTGGGTGAGGGCCGGGCTGGGGCCTTCTGGTCATGGAGGGCGGGGCAGCCGGGCGTTGGCCACCTCCCAGCCTCGCCGCACATACCCTGTGGCCTGCAAGTTCCCCAACCTGGCAGGAGCTGTGGCCACACCCACGACTGCCCAGCAGCCTCACCCTCTGCTGTGGGAGTTGTCCCCGTCCACCCCTGGGTGCCTTTGCTGCAGTTATGTCGGGAGAGGCTCTGGTGACAGCTGTTTCCTGTGCACCTGCTGGGCACTAGGTCCCAGCTAATCCCTGTGCCAGGACTCTAATTTCACCCTAACACACATGGTGGTTTTCATTGCTGGGGAAGCTGAGGCCTGAGCACATGACTTGCCTTAGGTCACATAGCTGGTGAGTTCAGGATCCCCCAGAGATACCAGGGCCAGCACTCGATCCCCACCCAGCCCTGAACCCCACCATGTGCTGGGATTGTGCTGGGAGTGTCCACACGCCCGGGACCCCAGGGCTGGTGCTCTCATCTCCTT
|
Task1_train_16185
|
A mutation on Chromosome 11 affecting LRP5 (LDL receptor related protein 5) has been found. Is it harmful or harmless? What disease, if any, does it cause?
|
Pathogenic; not provided
|
CTCCCAGCCTCGCCGCACATACCCTGTGGCCTGCAAGTTCCCCAACCTGGCAGGAGCTGTGGCCACACCCACGACTGCCCAGCAGCCTCACCCTCTGCTGTGGGAGTTGTCCCCGTCCACCCCTGGGTGCCTTTGCTGCAGTTATGTCGGGAGAGGCTCTGGTGACAGCTGTTTCCTGTGCACCTGCTGGGCACTAGGTCCCAGCTAATCCCTGTGCCAGGACTCTAATTTCACCCTAACACACATGGTGGTTTTCATTGCTGGGGAAGCTGAGGCCTGAGCACATGACTTGCCTTAGGTCACATAGCTGGTGAGTTCAGGATCCCCCAGAGATACCAGGGCCAGCACTCGATCCCCACCCAGCCCTGAACCCCACCATGTGCTGGGATTGTGCTGGGAGTGTCCACACGCCCGGGACCCCAGGGCTGGTGCTCTCATCTCCTTTTTCCAGATCATGAGAATGAGGCTCAGGGAAGTTTGAAAAAAACCTATCCCAAGTCACACAGCAACAGGAGCAGGATTTGAACCCAGAAAAGGGGACCGCACACTCTGTTCTGCTAGAGTAGTTAGCTGTCCTGGGTGATATGGCAGGTGACAGGGGCAACTGTGCTTAACAAAGGAACCCCCATCCCCCCTGCCAAGTTGGGAGACTAGAAGGTCAGGGGCAGAAGCTCTGAAGGGCCAGGTGCAGTGGCTGACACCTCTAATCCCAGCACTTTGTGAGGCCAAGGCGGGCAGATGATTTGAGCCCAGGAGTTCAAGATCAGCCTGGGTAATGTAGTGAGACGCCATCTCTACAAAAAAATTTTTTAAAAATTAGCTGGGCATGGTGGTTCATGCCTGTAGTCCAAGCTACTTGGGAGGCTCAGGTGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGTTGTGGTGAGCTGTGATCATGCCACTGCACTCCAGCCTGGGCAATAGAGTGAGACCGTCTCCAAAAAAAAAAAAAGAAGAAGAAAAAGAAGCTCTGAGGCTCCAAGTCCCCAGGCACCCCTTGGCTTGAGGGCAGACAAGGGAGGAGAGGGTCACCTGGGCAGCCCTGACTTTTGTCCCCTGGCAAAGGGACCTTCAGTGACCTTGGCCCTAGGAGAGCCTCTGAGCACGTCAGCCATGTCGAACCGCTCAGGAAGGGCAGCAAGAATTTGGCTTCTGACCTCTGCCTCTCCTACTCGCCATCTGCACTGGGTGTGGTTGTGCCCATTTTACAGATGAGGAGGCTGGGGCATCGACCAGCTGAATGCCTTGTCCCAGGTACTGCGTAGGCAGAGCTGGCAGTTGAACCCCGTGTCCTGGTTGTCGCTGGGGGTGGGCTGCACCCTGACTTGTGAGGCCAGTAGCAAGGTTTGCACGTGACTTCGTGACCGTCACCCAGCTCTGCAGCACATCCCGTGACCCAGCTCATCCAGGCCGCATGCAAACCTGTTGCCAGGCGAGAAACCAGTCACCGCACAGCTGTGGTTGCCTGAAATGATTAAGCTCATTAATCACCCCGGAGTGAGGACAGACTCAGATGAAAACCAGCAAAAGCCCTGGAAACTCATGTGACCCTGCCAATGAGGGCGGCCATGTGCATTGCAGCCTGGCCGTCACTCCTCGGTACGTGTTTTGGACTTAAACGCTCCGGATGTTTACTGAGTGCTTGATTAATAACATGGAAGGCCTGGTCTCATTGCTGTGGGAGTGAAGGATGCACAGCCAGGCCTGACATGATGAGAACAAGAACCTGGAGTCTCGCTGCCTGGGTGGTAATCCTGGCCCTGCCACTTAGCAACTGTGTGACTGTAGCCAGGTCACTTAATTTTGCTAGATCCTGCCTGCGCTTCAGTGGATCTTGCTGGTTTTCCAAGGTGGCCAAACACTTTAAGGCATTCATGTGGTCGCTAGGCTGCAGGGTTGAACCCTGGCTCACCCCGCAGGGCGCCGTGTGCTCTGTGGCCTGGCTGTGCCTTTGCTGACACCGTGCCCGTGTGTGTTCATGCAGGTCAGGAGCGGGTCGTGATTGCCGACGATCTCCCGCACCCGTTCGGTCTGACGCAGTACAGCGATTATATCTACTGGACAGACTGGAATCTGCACAGCATTGAGCGGGCCGACAAGACTAGCGGCCGGAACCGCACCCTCATCCAGGGCCACCTGGACTTCGTGATGGACATCCTGGTGTTCCACTCCTCCCGCCAGGATGGCCTCAATGACTGTATGCACAACAACGGGCAGTGTGGGCAGCTGTGCCTTGCCATCCCCGGCGGCCACCGCTGCGGCTGCGCCTCACACTACACCCTGGACCCCAGCAGCCGCAACTGCAGCCGTAAGTGCCTCATGGTCCCCCGCACCTCACTCCCTCGTTAGATCAGGCTGGTTCTGGGAGCTGACGCTGAAAGGAGCTTCTCATCTGGGGTTCCTGGGTGTACATAGATGGTTGGGTAGGTTGTGCACTGCACAAGCTGCATGATGCTACCTGGGGGTCCAGGTCCAGGCTGGATGGACTTGTTGCTTCATCAGGACATAGATAAATGGCCAAAACTCCTCAGCTGGAAGGTCCTGGGCAGGATCTTTGGGTGTGAAAACCAGTCACAGGGGAAGGGTGCTTGCTCATACTGCCAGCACAGTGCTGAGTGCTTTCCATAGCGCTCGTTTACTCCTCAAGCCTGGAGGGTGGGGAGTAGCATGGTCCCATTTCACGTACAAGGAACCCGATGCACAGAGAGGTGTGGCAACCCATCCAAGGCCATACAACTGGGGTGGGTTGAGCCGGGGTTGACTGTGGCAGGCTGGCTCAAGAGTCCCTGCTCCTGAACCCTTGCCAGGCAGCCTGGCATCAGCTCGGGGAATTTTTGCCCTGACCCTTGGAAGCAGGTGGGCCTCTTTGTTCTCATGTCAGTGATGAGAAGAGTGACTTTCCTATGGCCCCTCTGGAGTACAGGTGTTTCCTGTTGGCGGGCTCTTCCCCCATGACATCAGCAGCGAGCTGGTTATGATTCCCTACGCAGAACTTGATAGTTTATAAAGCTCTTTGTCATCCAGGCCCCGTTGGAGTCTCACGCAGACCTGGTCGCAGGCGGGGCTGGTCTTGCCTGTCCCAGCTGCATGGATGGGGAACTTGAGGCTTGCAAAGGTTAAGGGGCTGTTCGAGGCCCAGGCTGGCAGGAGATGGGCCTGGGCCAGAGTCTGGGACTTCCCATGCCTGGGCTGTCTTTGGTCCTGTTGCTCACCATCCCTCCCTGGGGCCATGACCTTAGAGAGCCAAATGGAGGTGCAGGTAACCCACGGCAAGGAGGGGTTGCCATGACTCAGAGTCCCCGTCCTGTGGCCGGCAGTACCTGGTGCAACGACTTGGATTTCAGACCAGCCACTGTAGCCCGCTGACGGTGCGCTCGAAGTGCCACAGCTTCTGAAGCCAGGCAGGACTCAGGCCAGGAGACTCTGTTAGCTGTTGAGAGGGAGAGGCCAACGGATGTTCTGGTTCTGCTAGAGAGCTGGTTCTTCGGATCCTGGTACCAGTGCACTGAGAGGAGGCCCAGCTTGATTCTGGGGCTGCCTTGTGGTGGCATGTGCTGCTCACTGACACCCTCGAGGAGTGTCTTCTCTCGGGCTTGTTGACTGTGCCCGGTTTTCCGCAGTTCACTGGTGCACACATAGGCACATAGCAAACCGCACACACAGTCGTGGGTATGAGTTTCACTACATTCCACCACCAGTGTTCACTACCATTACCTGCCTTCCGTCTTAAGTGTTCATCATTTAAAAATAAATTTATTGGGCTGGACACGGTGGCTCATGACTGTTATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACTCCATCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGGGCATGCCTATAATCCCAGCTACTTGGGAGGCTGAGAGAGGAGAATCGCTTGAACTTGGGAGGTGGAAGTTTCAAGTGAGCTCATTTTGTGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCATCTCGAATGAATGAATGAATGAATGAATGAATG
|
CTCCCAGCCTCGCCGCACATACCCTGTGGCCTGCAAGTTCCCCAACCTGGCAGGAGCTGTGGCCACACCCACGACTGCCCAGCAGCCTCACCCTCTGCTGTGGGAGTTGTCCCCGTCCACCCCTGGGTGCCTTTGCTGCAGTTATGTCGGGAGAGGCTCTGGTGACAGCTGTTTCCTGTGCACCTGCTGGGCACTAGGTCCCAGCTAATCCCTGTGCCAGGACTCTAATTTCACCCTAACACACATGGTGGTTTTCATTGCTGGGGAAGCTGAGGCCTGAGCACATGACTTGCCTTAGGTCACATAGCTGGTGAGTTCAGGATCCCCCAGAGATACCAGGGCCAGCACTCGATCCCCACCCAGCCCTGAACCCCACCATGTGCTGGGATTGTGCTGGGAGTGTCCACACGCCCGGGACCCCAGGGCTGGTGCTCTCATCTCCTTTTTCCAGATCATGAGAATGAGGCTCAGGGAAGTTTGAAAAAAACCTATCCCAAGTCACACAGCAACAGGAGCAGGATTTGAACCCAGAAAAGGGGACCGCACACTCTGTTCTGCTAGAGTAGTTAGCTGTCCTGGGTGATATGGCAGGTGACAGGGGCAACTGTGCTTAACAAAGGAACCCCCATCCCCCCTGCCAAGTTGGGAGACTAGAAGGTCAGGGGCAGAAGCTCTGAAGGGCCAGGTGCAGTGGCTGACACCTCTAATCCCAGCACTTTGTGAGGCCAAGGCGGGCAGATGATTTGAGCCCAGGAGTTCAAGATCAGCCTGGGTAATGTAGTGAGACGCCATCTCTACAAAAAAATTTTTTAAAAATTAGCTGGGCATGGTGGTTCATGCCTGTAGTCCAAGCTACTTGGGAGGCTCAGGTGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGTTGTGGTGAGCTGTGATCATGCCACTGCACTCCAGCCTGGGCAATAGAGTGAGACCGTCTCCAAAAAAAAAAAAAGAAGAAGAAAAAGAAGCTCTGAGGCTCCAAGTCCCCAGGCACCCCTTGGCTTGAGGGCAGACAAGGGAGGAGAGGGTCACCTGGGCAGCCCTGACTTTTGTCCCCTGGCAAAGGGACCTTCAGTGACCTTGGCCCTAGGAGAGCCTCTGAGCACGTCAGCCATGTCGAACCGCTCAGGAAGGGCAGCAAGAATTTGGCTTCTGACCTCTGCCTCTCCTACTCGCCATCTGCACTGGGTGTGGTTGTGCCCATTTTACAGATGAGGAGGCTGGGGCATCGACCAGCTGAATGCCTTGTCCCAGGTACTGCGTAGGCAGAGCTGGCAGTTGAACCCCGTGTCCTGGTTGTCGCTGGGGGTGGGCTGCACCCTGACTTGTGAGGCCAGTAGCAAGGTTTGCACGTGACTTCGTGACCGTCACCCAGCTCTGCAGCACATCCCGTGACCCAGCTCATCCAGGCCGCATGCAAACCTGTTGCCAGGCGAGAAACCAGTCACCGCACAGCTGTGGTTGCCTGAAATGATTAAGCTCATTAATCACCCCGGAGTGAGGACAGACTCAGATGAAAACCAGCAAAAGCCCTGGAAACTCATGTGACCCTGCCAATGAGGGCGGCCATGTGCATTGCAGCCTGGCCGTCACTCCTCGGTACGTGTTTTGGACTTAAACGCTCCGGATGTTTACTGAGTGCTTGATTAATAACATGGAAGGCCTGGTCTCATTGCTGTGGGAGTGAAGGATGCACAGCCAGGCCTGACATGATGAGAACAAGAACCTGGAGTCTCGCTGCCTGGGTGGTAATCCTGGCCCTGCCACTTAGCAACTGTGTGACTGTAGCCAGGTCACTTAATTTTGCTAGATCCTGCCTGCGCTTCAGTGGATCTTGCTGGTTTTCCAAGGTGGCCAAACACTTTAAGGCATTCATGTGGTCGCTAGGCTGCAGGGTTGAACCCTGGCTCACCCCGCAGGGCGCCGTGTGCTCTGTGGCCTGGCTGTGCCTTTGCTGACACCGTGCCCGTGTGTGTTCATGCAGGTCAGGAGCGGGTCGTGATTGCCGACGATCTCCCGCACCTGTTCGGTCTGACGCAGTACAGCGATTATATCTACTGGACAGACTGGAATCTGCACAGCATTGAGCGGGCCGACAAGACTAGCGGCCGGAACCGCACCCTCATCCAGGGCCACCTGGACTTCGTGATGGACATCCTGGTGTTCCACTCCTCCCGCCAGGATGGCCTCAATGACTGTATGCACAACAACGGGCAGTGTGGGCAGCTGTGCCTTGCCATCCCCGGCGGCCACCGCTGCGGCTGCGCCTCACACTACACCCTGGACCCCAGCAGCCGCAACTGCAGCCGTAAGTGCCTCATGGTCCCCCGCACCTCACTCCCTCGTTAGATCAGGCTGGTTCTGGGAGCTGACGCTGAAAGGAGCTTCTCATCTGGGGTTCCTGGGTGTACATAGATGGTTGGGTAGGTTGTGCACTGCACAAGCTGCATGATGCTACCTGGGGGTCCAGGTCCAGGCTGGATGGACTTGTTGCTTCATCAGGACATAGATAAATGGCCAAAACTCCTCAGCTGGAAGGTCCTGGGCAGGATCTTTGGGTGTGAAAACCAGTCACAGGGGAAGGGTGCTTGCTCATACTGCCAGCACAGTGCTGAGTGCTTTCCATAGCGCTCGTTTACTCCTCAAGCCTGGAGGGTGGGGAGTAGCATGGTCCCATTTCACGTACAAGGAACCCGATGCACAGAGAGGTGTGGCAACCCATCCAAGGCCATACAACTGGGGTGGGTTGAGCCGGGGTTGACTGTGGCAGGCTGGCTCAAGAGTCCCTGCTCCTGAACCCTTGCCAGGCAGCCTGGCATCAGCTCGGGGAATTTTTGCCCTGACCCTTGGAAGCAGGTGGGCCTCTTTGTTCTCATGTCAGTGATGAGAAGAGTGACTTTCCTATGGCCCCTCTGGAGTACAGGTGTTTCCTGTTGGCGGGCTCTTCCCCCATGACATCAGCAGCGAGCTGGTTATGATTCCCTACGCAGAACTTGATAGTTTATAAAGCTCTTTGTCATCCAGGCCCCGTTGGAGTCTCACGCAGACCTGGTCGCAGGCGGGGCTGGTCTTGCCTGTCCCAGCTGCATGGATGGGGAACTTGAGGCTTGCAAAGGTTAAGGGGCTGTTCGAGGCCCAGGCTGGCAGGAGATGGGCCTGGGCCAGAGTCTGGGACTTCCCATGCCTGGGCTGTCTTTGGTCCTGTTGCTCACCATCCCTCCCTGGGGCCATGACCTTAGAGAGCCAAATGGAGGTGCAGGTAACCCACGGCAAGGAGGGGTTGCCATGACTCAGAGTCCCCGTCCTGTGGCCGGCAGTACCTGGTGCAACGACTTGGATTTCAGACCAGCCACTGTAGCCCGCTGACGGTGCGCTCGAAGTGCCACAGCTTCTGAAGCCAGGCAGGACTCAGGCCAGGAGACTCTGTTAGCTGTTGAGAGGGAGAGGCCAACGGATGTTCTGGTTCTGCTAGAGAGCTGGTTCTTCGGATCCTGGTACCAGTGCACTGAGAGGAGGCCCAGCTTGATTCTGGGGCTGCCTTGTGGTGGCATGTGCTGCTCACTGACACCCTCGAGGAGTGTCTTCTCTCGGGCTTGTTGACTGTGCCCGGTTTTCCGCAGTTCACTGGTGCACACATAGGCACATAGCAAACCGCACACACAGTCGTGGGTATGAGTTTCACTACATTCCACCACCAGTGTTCACTACCATTACCTGCCTTCCGTCTTAAGTGTTCATCATTTAAAAATAAATTTATTGGGCTGGACACGGTGGCTCATGACTGTTATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACTCCATCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGGGCATGCCTATAATCCCAGCTACTTGGGAGGCTGAGAGAGGAGAATCGCTTGAACTTGGGAGGTGGAAGTTTCAAGTGAGCTCATTTTGTGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCATCTCGAATGAATGAATGAATGAATGAATGAATG
|
Task1_train_16186
|
A change on Chromosome 11 affects gene LRP5 (LDL receptor related protein 5). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
|
Pathogenic; not provided
|
AGTCCTTCCAGCTCATTGACCATTGGAGAATTTTATGGAGGCTGTAGACTAGGGGCTGGTAAACTAAGGGCCCAGGGGCCAAATCCAGCCTGCCACCTACTTTTGTAAATAAAGTTTTCTTGGTGCACAGCCATGCCCATTCATTCATTTGCACAATGTCTGTGGCTGCTTTCATGCCAAAAGCAAGAGAACTGAGTGGTTATGCTGGAGACCTACGGCCTTCAAAGCCCCAGACCTCACGTCTGGCCCTTGACAGACAGAGCTTCCCCAGCCCTGCTGCGCATCCTGGCCCAGCATGTGCTGTGTGTGTGATTTCAGCTTGCAGGAGCCGTGGTTAGGAATTGTCCCTGTGTTGGTCCATTTTGCATTGCTATGAAGGAGCACCTGAGGCCGGGTAGATTATGAAGGAAAGAGGTCTGTCTGGCTCATGGTTCTGTAGGCAGCACCAGTATGGCACCCGCATCTGCTCAGCTTCTAGTGAGGTCTCAGGAAGCTTTGACTCATGGTGAAAGTCGAAGCGGGAGCAGGTGCATCACATGGTGAGAGAGGGAGCAACGGAGAGAGAGAGAGAGCGCCTCTCCCTCTTGCCCTCACCTTGAGAGGAGATGCCAGGCTCCTTTAAGTAACCAGCTCCCATGTGAACTCACAGTGAGAGCCCATTTGCTACTGCGGAGAGGGCACCAGGCATCTGCTCCCATGACCCAAACACTGCCCACCAGGCCCTACCTCCAACCTTGGGGTCATATTTTATTCTGTTCTATGCTATGCTATGCTATGCCATGCCATGCCATGCCATGCTATTCCTATTCTATTATTTGAGACAGAATCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGTATCAGCCTCCCGAGTAGCTGGGATTACAGGCACACACCACCACACCCGGCTAATTTTTGTATTTTCAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCTACCTCGGCCTCCCAAAGTGCCATGATTACAGATGTGAGTCACTGCGCCCAGTGAGGGTCACATTTCCGTTGAGATTTGGAGGGGCAGACGTTGGAGCCATCTGAGCCCCCTCGTCCCGCTCTAGCTTCTCCTCCCGTGTGCCCCGCGGTGCTGGTGGCAGGCCCTTACGCCGGTTCTGGCTGCATGCTCTGTTCCAGAAGCTTTCTTCCCTGCTTGGTTACCAGAAAATCATCCCATCCATTACAAGGACAGGGTCCCCTTATCTCCCATTCCCAGGGCAGGACACCGGGGGCAGGGCAGGTGGGGAACTGAGCAAGTTCTCTGGGGGCAGGCGTGGCTATGGCTCCCTCTGGGTGGGCGTCTGGGGAGGGGTGGAGGCAGCCGTCAGCGCCCTGGCTTGCTCTTCCTCCCTGGCCAGAGACTGTGGCCTTGTGCTGCTCCCGTGTGGGCTGCCTGCACCTCCAGTGGGTTGTGCTCCCTCCCCTCCCCTCCCCTCAAGCTCTGCTGAGCACCACTGCCTTCCACAGCCCCCACTCTCGGGAGGCGAGGCTCCTCGTGGCCATTCCTGTCCTTGGCACCCACCCCCCCACCAACCTGGTAGAGCCTTGGGCGGGGTCTGTTACTCCTTGCATGGCGTAGACCTCCCCACAGTAGGCACCTGACACATACCTCCTGGGGGGCAGGCAGGAGGTGCGTTGAGGTCTCAGCCCTGGCAGTCCCTCCCCTGCGTGGCATAGGCCTCGCCACAGGGTCATCGAGGGTGGGTGGAGACTGTACTAGACCACTCCCCGCTGGTCCTAGAAAGGGTCCCATCTGTCTGCTCTCTGTTTGGAGTCCAGACCTTGGTTGCTGTGCCCTGCATGGTGGGCTGGGGGGCACCCTCCAGCCTCTCTGAGTGCATGGCCTCTCCTTGCAGCCATCTGCCTGCCCAACCAGTTCCGGTGTGCGAGCGGCCAGTGTGTCCTCATCAAACAGCAGTGCGACTCCTTCCCCGACTGTATCGACGGCTCCGACGAGCTCATGTGTGGTGAGCCAGCTTCTGGCACGGGGAAGGGGCGTCCGGGCTGGGTTCCCCCAGGAACGTGGAGTTTAGGGGAGGAGACGTGCCTTTCCAGCGGGGCTGGGGGCTGTGTGGGAGACTCAGGCGGCTGGGAGGCTCCTTGCGGGAGGCAGGGAAGCCTTTCCCAGGGCAGCGGCCAGGAGGACAGACTGTGAGCTGTGGGCTCGGCGGCTACAGAGTCTGCCTCAGTGGGCGGGGCTGATGGTGTCCAGGTGCCTGCAGCACGCACCCACCCACGGGACCTTGCTGAGCAGCGTCTGTCAGGCAGCAAGATTACCCGAGGGCTGCAGTGGTCCTGTTCCCTGGCAGCTTACTGTCTGGCTGAGGAGGAGTGATGTTCACATATGCACACATGTCATGTGCACACACATGTACATGACAACATCCCACATGCTCCTCAAATAGCATGACCTGTACAGTCACGGATATAGGGCCTAGGGGATAGGAGGCCAAGACAGTCAGGGAAGACTTTCCAGAGGCAGTGGCTCCTGAAAGGCTGTCTGATTCAGGCAGGAAGGGAGCTGAGTTCAGATAGGAAGTAGCAATGAGTCATTGTGTCTGGGGACATGGCCACTCCTTCGCTGCAGAGGGACCTGGGCTGAGAGCTCCTCTCTTATGGCTGCAGTCGGGAGAGAAGTCTGTTGGGGGGAGAAGGGGGCTTCCTCAAGGGACTCCCTGTGCCCTTTGGCACCTTCGTGCCAGGTCAGGCTTGAGGCCTGAAGGCAGTGGTGGGGGCCACCAAGGGTCGCCTCCTCTGCTGGGCAAGTTCCCAGTCTGACGGGCCTGTGCCGTGGGCCCCAGCTGTGGGGGCGCTGTTGATGCGCAGCCAGGCCTCGCCGCCAGAGCCCGCACGCTTCCATTCCGCTGACTTCATCGACGCCCTCAGGATCGCTGGGCCGGCCCTGTGGGAGAGTGAATGTGGCTTTTGCCAAAGTTGAGTCTGGAGCCTGGAAACTTCCCTATGGGCAGCCTTGATAGTGGAGTGGCCCAAGGAGCCCACCCAGCCGACCCTGCCCCTCCCGTGGCTGGTGGGCGGCACCAGGGGCTGCCTGGCTTTGCTCGTTCACCAACATCACCTGGGCTGGCCAGGGCGCGCTCACTTCTGCCACCACCGAGGGCCCTGGGCGAAGGAGTGAATACCAGGCTGCCTTGGCAGGGATGTGTTGAGGGCTGTGGGGAGTCGGACAGCGGCGGGGGTCAGAGGAGGAGGAGGGTGCACCGTGCAGGCTGAAGGGCCACGTTACCCTGAGGTTGGCCAGGCTCCCCAGGCCTAGCCTCCCAGCTCCCCCACTTTCTCCCCACCCTCCACCAGTGGCAAAGCCAGCCCCTTCAGGGCGCACGGTGTCTGCCCCCAAGGAGGGCCCATTCCGTTGGGGTTAATGTTGGCCACCTCTTTCTGTTTGTCTCTGGCAGAAATCACCAAGCCGCCCTCAGACGACAGCCCGGCCCACAGCAGTGCCATCGGGCCCGTCATTGGCATCATCCTCTCTCTCTTCGTCATGGGTGGTGTCTATTTTGTGTGCCAGCGCGTGGTGTGCCAGCGCTATGCGGGGGCCAACGGGCCCTTCCCGCACGAGTATGTCAGCGGGACCCCGCACGTGCCCCTCAATTTCATAGCCCCGGGCGGTTCCCAGCATGGCCCCTTCACAGGTAAGGAGCCTGAGATATGGAATGATCTGGAGGAGGCAGGAGAGTAGTCTGGGCAGCTTTGGGGAGTGGAGCAGGGATGTGCTACCCCAGGCCCTCTTGCACATGTGGCAGACATTGCTAATCGATCACAGCATTCAGCCTTTCCCACTGAGCCTGTGCTTGGCATCAGAATCCTTCAACACAGAGGCCTGCATGGCTGTAGCAACCCACCCTTTGGCACTGTAGGTGTGGAGAAAGCTCCTTGGACTTGACCTTCATATTCTAGTAGGACATGTGCTGTGTTGTCCACAAATCCTCATGTACCCTAGAAATGAATGTGGGGGCGGCTGGGCTCTCTCCA
|
AGTCCTTCCAGCTCATTGACCATTGGAGAATTTTATGGAGGCTGTAGACTAGGGGCTGGTAAACTAAGGGCCCAGGGGCCAAATCCAGCCTGCCACCTACTTTTGTAAATAAAGTTTTCTTGGTGCACAGCCATGCCCATTCATTCATTTGCACAATGTCTGTGGCTGCTTTCATGCCAAAAGCAAGAGAACTGAGTGGTTATGCTGGAGACCTACGGCCTTCAAAGCCCCAGACCTCACGTCTGGCCCTTGACAGACAGAGCTTCCCCAGCCCTGCTGCGCATCCTGGCCCAGCATGTGCTGTGTGTGTGATTTCAGCTTGCAGGAGCCGTGGTTAGGAATTGTCCCTGTGTTGGTCCATTTTGCATTGCTATGAAGGAGCACCTGAGGCCGGGTAGATTATGAAGGAAAGAGGTCTGTCTGGCTCATGGTTCTGTAGGCAGCACCAGTATGGCACCCGCATCTGCTCAGCTTCTAGTGAGGTCTCAGGAAGCTTTGACTCATGGTGAAAGTCGAAGCGGGAGCAGGTGCATCACATGGTGAGAGAGGGAGCAACGGAGAGAGAGAGAGAGCGCCTCTCCCTCTTGCCCTCACCTTGAGAGGAGATGCCAGGCTCCTTTAAGTAACCAGCTCCCATGTGAACTCACAGTGAGAGCCCATTTGCTACTGCGGAGAGGGCACCAGGCATCTGCTCCCATGACCCAAACACTGCCCACCAGGCCCTACCTCCAACCTTGGGGTCATATTTTATTCTGTTCTATGCTATGCTATGCTATGCCATGCCATGCCATGCCATGCTATTCCTATTCTATTATTTGAGACAGAATCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGTATCAGCCTCCCGAGTAGCTGGGATTACAGGCACACACCACCACACCCGGCTAATTTTTGTATTTTCAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCTACCTCGGCCTCCCAAAGTGCCATGATTACAGATGTGAGTCACTGCGCCCAGTGAGGGTCACATTTCCGTTGAGATTTGGAGGGGCAGACGTTGGAGCCATCTGAGCCCCCTCGTCCCGCTCTAGCTTCTCCTCCCGTGTGCCCCGCGGTGCTGGTGGCAGGCCCTTACGCCGGTTCTGGCTGCATGCTCTGTTCCAGAAGCTTTCTTCCCTGCTTGGTTACCAGAAAATCATCCCATCCATTACAAGGACAGGGTCCCCTTATCTCCCATTCCCAGGGCAGGACACCGGGGGCAGGGCAGGTGGGGAACTGAGCAAGTTCTCTGGGGGCAGGCGTGGCTATGGCTCCCTCTGGGTGGGCGTCTGGGGAGGGGTGGAGGCAGCCGTCAGCGCCCTGGCTTGCTCTTCCTCCCTGGCCAGAGACTGTGGCCTTGTGCTGCTCCCGTGTGGGCTGCCTGCACCTCCAGTGGGTTGTGCTCCCTCCCCTCCCCTCCCCTCAAGCTCTGCTGAGCACCACTGCCTTCCACAGCCCCCACTCTCGGGAGGCGAGGCTCCTCGTGGCCATTCCTGTCCTTGGCACCCACCCCCCCACCAACCTGGTAGAGCCTTGGGCGGGGTCTGTTACTCCTTGCATGGCGTAGACCTCCCCACAGTAGGCACCTGACACATACCTCCTGGGGGGCAGGCAGGAGGTGCGTTGAGGTCTCAGCCCTGGCAGTCCCTCCCCTGCGTGGCATAGGCCTCGCCACAGGGTCATCGAGGGTGGGTGGAGACTGTACTAGACCACTCCCCGCTGGTCCTAGAAAGGGTCCCATCTGTCTGCTCTCTGTTTGGAGTCCAGACCTTGGTTGCTGTGCCCTGCATGGTGGGCTGGGGGGCACCCTCCAGCCTCTCTGAGTGCATGGCCTCTCCTTGCAGCCATCTGCCTGCCCAACCAGTTCCGGTGTGCGAGCGGCCAGTGTGTCCTCATCAAACAGCAGTGCGACTCCTTCCCCGACTGTATCAACGGCTCCGACGAGCTCATGTGTGGTGAGCCAGCTTCTGGCACGGGGAAGGGGCGTCCGGGCTGGGTTCCCCCAGGAACGTGGAGTTTAGGGGAGGAGACGTGCCTTTCCAGCGGGGCTGGGGGCTGTGTGGGAGACTCAGGCGGCTGGGAGGCTCCTTGCGGGAGGCAGGGAAGCCTTTCCCAGGGCAGCGGCCAGGAGGACAGACTGTGAGCTGTGGGCTCGGCGGCTACAGAGTCTGCCTCAGTGGGCGGGGCTGATGGTGTCCAGGTGCCTGCAGCACGCACCCACCCACGGGACCTTGCTGAGCAGCGTCTGTCAGGCAGCAAGATTACCCGAGGGCTGCAGTGGTCCTGTTCCCTGGCAGCTTACTGTCTGGCTGAGGAGGAGTGATGTTCACATATGCACACATGTCATGTGCACACACATGTACATGACAACATCCCACATGCTCCTCAAATAGCATGACCTGTACAGTCACGGATATAGGGCCTAGGGGATAGGAGGCCAAGACAGTCAGGGAAGACTTTCCAGAGGCAGTGGCTCCTGAAAGGCTGTCTGATTCAGGCAGGAAGGGAGCTGAGTTCAGATAGGAAGTAGCAATGAGTCATTGTGTCTGGGGACATGGCCACTCCTTCGCTGCAGAGGGACCTGGGCTGAGAGCTCCTCTCTTATGGCTGCAGTCGGGAGAGAAGTCTGTTGGGGGGAGAAGGGGGCTTCCTCAAGGGACTCCCTGTGCCCTTTGGCACCTTCGTGCCAGGTCAGGCTTGAGGCCTGAAGGCAGTGGTGGGGGCCACCAAGGGTCGCCTCCTCTGCTGGGCAAGTTCCCAGTCTGACGGGCCTGTGCCGTGGGCCCCAGCTGTGGGGGCGCTGTTGATGCGCAGCCAGGCCTCGCCGCCAGAGCCCGCACGCTTCCATTCCGCTGACTTCATCGACGCCCTCAGGATCGCTGGGCCGGCCCTGTGGGAGAGTGAATGTGGCTTTTGCCAAAGTTGAGTCTGGAGCCTGGAAACTTCCCTATGGGCAGCCTTGATAGTGGAGTGGCCCAAGGAGCCCACCCAGCCGACCCTGCCCCTCCCGTGGCTGGTGGGCGGCACCAGGGGCTGCCTGGCTTTGCTCGTTCACCAACATCACCTGGGCTGGCCAGGGCGCGCTCACTTCTGCCACCACCGAGGGCCCTGGGCGAAGGAGTGAATACCAGGCTGCCTTGGCAGGGATGTGTTGAGGGCTGTGGGGAGTCGGACAGCGGCGGGGGTCAGAGGAGGAGGAGGGTGCACCGTGCAGGCTGAAGGGCCACGTTACCCTGAGGTTGGCCAGGCTCCCCAGGCCTAGCCTCCCAGCTCCCCCACTTTCTCCCCACCCTCCACCAGTGGCAAAGCCAGCCCCTTCAGGGCGCACGGTGTCTGCCCCCAAGGAGGGCCCATTCCGTTGGGGTTAATGTTGGCCACCTCTTTCTGTTTGTCTCTGGCAGAAATCACCAAGCCGCCCTCAGACGACAGCCCGGCCCACAGCAGTGCCATCGGGCCCGTCATTGGCATCATCCTCTCTCTCTTCGTCATGGGTGGTGTCTATTTTGTGTGCCAGCGCGTGGTGTGCCAGCGCTATGCGGGGGCCAACGGGCCCTTCCCGCACGAGTATGTCAGCGGGACCCCGCACGTGCCCCTCAATTTCATAGCCCCGGGCGGTTCCCAGCATGGCCCCTTCACAGGTAAGGAGCCTGAGATATGGAATGATCTGGAGGAGGCAGGAGAGTAGTCTGGGCAGCTTTGGGGAGTGGAGCAGGGATGTGCTACCCCAGGCCCTCTTGCACATGTGGCAGACATTGCTAATCGATCACAGCATTCAGCCTTTCCCACTGAGCCTGTGCTTGGCATCAGAATCCTTCAACACAGAGGCCTGCATGGCTGTAGCAACCCACCCTTTGGCACTGTAGGTGTGGAGAAAGCTCCTTGGACTTGACCTTCATATTCTAGTAGGACATGTGCTGTGTTGTCCACAAATCCTCATGTACCCTAGAAATGAATGTGGGGGCGGCTGGGCTCTCTCCA
|
Task1_train_16187
|
This variant impacts the gene LRP5 (LDL receptor related protein 5) on Chromosome 11. Is the change likely to result in a pathogenic outcome?
|
Pathogenic; Retinal dystrophy
|
TCATTGACCATTGGAGAATTTTATGGAGGCTGTAGACTAGGGGCTGGTAAACTAAGGGCCCAGGGGCCAAATCCAGCCTGCCACCTACTTTTGTAAATAAAGTTTTCTTGGTGCACAGCCATGCCCATTCATTCATTTGCACAATGTCTGTGGCTGCTTTCATGCCAAAAGCAAGAGAACTGAGTGGTTATGCTGGAGACCTACGGCCTTCAAAGCCCCAGACCTCACGTCTGGCCCTTGACAGACAGAGCTTCCCCAGCCCTGCTGCGCATCCTGGCCCAGCATGTGCTGTGTGTGTGATTTCAGCTTGCAGGAGCCGTGGTTAGGAATTGTCCCTGTGTTGGTCCATTTTGCATTGCTATGAAGGAGCACCTGAGGCCGGGTAGATTATGAAGGAAAGAGGTCTGTCTGGCTCATGGTTCTGTAGGCAGCACCAGTATGGCACCCGCATCTGCTCAGCTTCTAGTGAGGTCTCAGGAAGCTTTGACTCATGGTGAAAGTCGAAGCGGGAGCAGGTGCATCACATGGTGAGAGAGGGAGCAACGGAGAGAGAGAGAGAGCGCCTCTCCCTCTTGCCCTCACCTTGAGAGGAGATGCCAGGCTCCTTTAAGTAACCAGCTCCCATGTGAACTCACAGTGAGAGCCCATTTGCTACTGCGGAGAGGGCACCAGGCATCTGCTCCCATGACCCAAACACTGCCCACCAGGCCCTACCTCCAACCTTGGGGTCATATTTTATTCTGTTCTATGCTATGCTATGCTATGCCATGCCATGCCATGCCATGCTATTCCTATTCTATTATTTGAGACAGAATCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGTATCAGCCTCCCGAGTAGCTGGGATTACAGGCACACACCACCACACCCGGCTAATTTTTGTATTTTCAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCTACCTCGGCCTCCCAAAGTGCCATGATTACAGATGTGAGTCACTGCGCCCAGTGAGGGTCACATTTCCGTTGAGATTTGGAGGGGCAGACGTTGGAGCCATCTGAGCCCCCTCGTCCCGCTCTAGCTTCTCCTCCCGTGTGCCCCGCGGTGCTGGTGGCAGGCCCTTACGCCGGTTCTGGCTGCATGCTCTGTTCCAGAAGCTTTCTTCCCTGCTTGGTTACCAGAAAATCATCCCATCCATTACAAGGACAGGGTCCCCTTATCTCCCATTCCCAGGGCAGGACACCGGGGGCAGGGCAGGTGGGGAACTGAGCAAGTTCTCTGGGGGCAGGCGTGGCTATGGCTCCCTCTGGGTGGGCGTCTGGGGAGGGGTGGAGGCAGCCGTCAGCGCCCTGGCTTGCTCTTCCTCCCTGGCCAGAGACTGTGGCCTTGTGCTGCTCCCGTGTGGGCTGCCTGCACCTCCAGTGGGTTGTGCTCCCTCCCCTCCCCTCCCCTCAAGCTCTGCTGAGCACCACTGCCTTCCACAGCCCCCACTCTCGGGAGGCGAGGCTCCTCGTGGCCATTCCTGTCCTTGGCACCCACCCCCCCACCAACCTGGTAGAGCCTTGGGCGGGGTCTGTTACTCCTTGCATGGCGTAGACCTCCCCACAGTAGGCACCTGACACATACCTCCTGGGGGGCAGGCAGGAGGTGCGTTGAGGTCTCAGCCCTGGCAGTCCCTCCCCTGCGTGGCATAGGCCTCGCCACAGGGTCATCGAGGGTGGGTGGAGACTGTACTAGACCACTCCCCGCTGGTCCTAGAAAGGGTCCCATCTGTCTGCTCTCTGTTTGGAGTCCAGACCTTGGTTGCTGTGCCCTGCATGGTGGGCTGGGGGGCACCCTCCAGCCTCTCTGAGTGCATGGCCTCTCCTTGCAGCCATCTGCCTGCCCAACCAGTTCCGGTGTGCGAGCGGCCAGTGTGTCCTCATCAAACAGCAGTGCGACTCCTTCCCCGACTGTATCGACGGCTCCGACGAGCTCATGTGTGGTGAGCCAGCTTCTGGCACGGGGAAGGGGCGTCCGGGCTGGGTTCCCCCAGGAACGTGGAGTTTAGGGGAGGAGACGTGCCTTTCCAGCGGGGCTGGGGGCTGTGTGGGAGACTCAGGCGGCTGGGAGGCTCCTTGCGGGAGGCAGGGAAGCCTTTCCCAGGGCAGCGGCCAGGAGGACAGACTGTGAGCTGTGGGCTCGGCGGCTACAGAGTCTGCCTCAGTGGGCGGGGCTGATGGTGTCCAGGTGCCTGCAGCACGCACCCACCCACGGGACCTTGCTGAGCAGCGTCTGTCAGGCAGCAAGATTACCCGAGGGCTGCAGTGGTCCTGTTCCCTGGCAGCTTACTGTCTGGCTGAGGAGGAGTGATGTTCACATATGCACACATGTCATGTGCACACACATGTACATGACAACATCCCACATGCTCCTCAAATAGCATGACCTGTACAGTCACGGATATAGGGCCTAGGGGATAGGAGGCCAAGACAGTCAGGGAAGACTTTCCAGAGGCAGTGGCTCCTGAAAGGCTGTCTGATTCAGGCAGGAAGGGAGCTGAGTTCAGATAGGAAGTAGCAATGAGTCATTGTGTCTGGGGACATGGCCACTCCTTCGCTGCAGAGGGACCTGGGCTGAGAGCTCCTCTCTTATGGCTGCAGTCGGGAGAGAAGTCTGTTGGGGGGAGAAGGGGGCTTCCTCAAGGGACTCCCTGTGCCCTTTGGCACCTTCGTGCCAGGTCAGGCTTGAGGCCTGAAGGCAGTGGTGGGGGCCACCAAGGGTCGCCTCCTCTGCTGGGCAAGTTCCCAGTCTGACGGGCCTGTGCCGTGGGCCCCAGCTGTGGGGGCGCTGTTGATGCGCAGCCAGGCCTCGCCGCCAGAGCCCGCACGCTTCCATTCCGCTGACTTCATCGACGCCCTCAGGATCGCTGGGCCGGCCCTGTGGGAGAGTGAATGTGGCTTTTGCCAAAGTTGAGTCTGGAGCCTGGAAACTTCCCTATGGGCAGCCTTGATAGTGGAGTGGCCCAAGGAGCCCACCCAGCCGACCCTGCCCCTCCCGTGGCTGGTGGGCGGCACCAGGGGCTGCCTGGCTTTGCTCGTTCACCAACATCACCTGGGCTGGCCAGGGCGCGCTCACTTCTGCCACCACCGAGGGCCCTGGGCGAAGGAGTGAATACCAGGCTGCCTTGGCAGGGATGTGTTGAGGGCTGTGGGGAGTCGGACAGCGGCGGGGGTCAGAGGAGGAGGAGGGTGCACCGTGCAGGCTGAAGGGCCACGTTACCCTGAGGTTGGCCAGGCTCCCCAGGCCTAGCCTCCCAGCTCCCCCACTTTCTCCCCACCCTCCACCAGTGGCAAAGCCAGCCCCTTCAGGGCGCACGGTGTCTGCCCCCAAGGAGGGCCCATTCCGTTGGGGTTAATGTTGGCCACCTCTTTCTGTTTGTCTCTGGCAGAAATCACCAAGCCGCCCTCAGACGACAGCCCGGCCCACAGCAGTGCCATCGGGCCCGTCATTGGCATCATCCTCTCTCTCTTCGTCATGGGTGGTGTCTATTTTGTGTGCCAGCGCGTGGTGTGCCAGCGCTATGCGGGGGCCAACGGGCCCTTCCCGCACGAGTATGTCAGCGGGACCCCGCACGTGCCCCTCAATTTCATAGCCCCGGGCGGTTCCCAGCATGGCCCCTTCACAGGTAAGGAGCCTGAGATATGGAATGATCTGGAGGAGGCAGGAGAGTAGTCTGGGCAGCTTTGGGGAGTGGAGCAGGGATGTGCTACCCCAGGCCCTCTTGCACATGTGGCAGACATTGCTAATCGATCACAGCATTCAGCCTTTCCCACTGAGCCTGTGCTTGGCATCAGAATCCTTCAACACAGAGGCCTGCATGGCTGTAGCAACCCACCCTTTGGCACTGTAGGTGTGGAGAAAGCTCCTTGGACTTGACCTTCATATTCTAGTAGGACATGTGCTGTGTTGTCCACAAATCCTCATGTACCCTAGAAATGAATGTGGGGGCGGCTGGGCTCTCTCCAGAGCTGAAGGAA
|
TCATTGACCATTGGAGAATTTTATGGAGGCTGTAGACTAGGGGCTGGTAAACTAAGGGCCCAGGGGCCAAATCCAGCCTGCCACCTACTTTTGTAAATAAAGTTTTCTTGGTGCACAGCCATGCCCATTCATTCATTTGCACAATGTCTGTGGCTGCTTTCATGCCAAAAGCAAGAGAACTGAGTGGTTATGCTGGAGACCTACGGCCTTCAAAGCCCCAGACCTCACGTCTGGCCCTTGACAGACAGAGCTTCCCCAGCCCTGCTGCGCATCCTGGCCCAGCATGTGCTGTGTGTGTGATTTCAGCTTGCAGGAGCCGTGGTTAGGAATTGTCCCTGTGTTGGTCCATTTTGCATTGCTATGAAGGAGCACCTGAGGCCGGGTAGATTATGAAGGAAAGAGGTCTGTCTGGCTCATGGTTCTGTAGGCAGCACCAGTATGGCACCCGCATCTGCTCAGCTTCTAGTGAGGTCTCAGGAAGCTTTGACTCATGGTGAAAGTCGAAGCGGGAGCAGGTGCATCACATGGTGAGAGAGGGAGCAACGGAGAGAGAGAGAGAGCGCCTCTCCCTCTTGCCCTCACCTTGAGAGGAGATGCCAGGCTCCTTTAAGTAACCAGCTCCCATGTGAACTCACAGTGAGAGCCCATTTGCTACTGCGGAGAGGGCACCAGGCATCTGCTCCCATGACCCAAACACTGCCCACCAGGCCCTACCTCCAACCTTGGGGTCATATTTTATTCTGTTCTATGCTATGCTATGCTATGCCATGCCATGCCATGCCATGCTATTCCTATTCTATTATTTGAGACAGAATCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGTATCAGCCTCCCGAGTAGCTGGGATTACAGGCACACACCACCACACCCGGCTAATTTTTGTATTTTCAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCTACCTCGGCCTCCCAAAGTGCCATGATTACAGATGTGAGTCACTGCGCCCAGTGAGGGTCACATTTCCGTTGAGATTTGGAGGGGCAGACGTTGGAGCCATCTGAGCCCCCTCGTCCCGCTCTAGCTTCTCCTCCCGTGTGCCCCGCGGTGCTGGTGGCAGGCCCTTACGCCGGTTCTGGCTGCATGCTCTGTTCCAGAAGCTTTCTTCCCTGCTTGGTTACCAGAAAATCATCCCATCCATTACAAGGACAGGGTCCCCTTATCTCCCATTCCCAGGGCAGGACACCGGGGGCAGGGCAGGTGGGGAACTGAGCAAGTTCTCTGGGGGCAGGCGTGGCTATGGCTCCCTCTGGGTGGGCGTCTGGGGAGGGGTGGAGGCAGCCGTCAGCGCCCTGGCTTGCTCTTCCTCCCTGGCCAGAGACTGTGGCCTTGTGCTGCTCCCGTGTGGGCTGCCTGCACCTCCAGTGGGTTGTGCTCCCTCCCCTCCCCTCCCCTCAAGCTCTGCTGAGCACCACTGCCTTCCACAGCCCCCACTCTCGGGAGGCGAGGCTCCTCGTGGCCATTCCTGTCCTTGGCACCCACCCCCCCACCAACCTGGTAGAGCCTTGGGCGGGGTCTGTTACTCCTTGCATGGCGTAGACCTCCCCACAGTAGGCACCTGACACATACCTCCTGGGGGGCAGGCAGGAGGTGCGTTGAGGTCTCAGCCCTGGCAGTCCCTCCCCTGCGTGGCATAGGCCTCGCCACAGGGTCATCGAGGGTGGGTGGAGACTGTACTAGACCACTCCCCGCTGGTCCTAGAAAGGGTCCCATCTGTCTGCTCTCTGTTTGGAGTCCAGACCTTGGTTGCTGTGCCCTGCATGGTGGGCTGGGGGGCACCCTCCAGCCTCTCTGAGTGCATGGCCTCTCCTTGCAGCCATCTGCCTGCCCAACCAGTTCCGGTGTGCGAGCGGCCAGTGTGTCCTCATCAAACAGCAGTGCGACTCCTTCCCCGACTGTATCGACGGCTCCGACAAGCTCATGTGTGGTGAGCCAGCTTCTGGCACGGGGAAGGGGCGTCCGGGCTGGGTTCCCCCAGGAACGTGGAGTTTAGGGGAGGAGACGTGCCTTTCCAGCGGGGCTGGGGGCTGTGTGGGAGACTCAGGCGGCTGGGAGGCTCCTTGCGGGAGGCAGGGAAGCCTTTCCCAGGGCAGCGGCCAGGAGGACAGACTGTGAGCTGTGGGCTCGGCGGCTACAGAGTCTGCCTCAGTGGGCGGGGCTGATGGTGTCCAGGTGCCTGCAGCACGCACCCACCCACGGGACCTTGCTGAGCAGCGTCTGTCAGGCAGCAAGATTACCCGAGGGCTGCAGTGGTCCTGTTCCCTGGCAGCTTACTGTCTGGCTGAGGAGGAGTGATGTTCACATATGCACACATGTCATGTGCACACACATGTACATGACAACATCCCACATGCTCCTCAAATAGCATGACCTGTACAGTCACGGATATAGGGCCTAGGGGATAGGAGGCCAAGACAGTCAGGGAAGACTTTCCAGAGGCAGTGGCTCCTGAAAGGCTGTCTGATTCAGGCAGGAAGGGAGCTGAGTTCAGATAGGAAGTAGCAATGAGTCATTGTGTCTGGGGACATGGCCACTCCTTCGCTGCAGAGGGACCTGGGCTGAGAGCTCCTCTCTTATGGCTGCAGTCGGGAGAGAAGTCTGTTGGGGGGAGAAGGGGGCTTCCTCAAGGGACTCCCTGTGCCCTTTGGCACCTTCGTGCCAGGTCAGGCTTGAGGCCTGAAGGCAGTGGTGGGGGCCACCAAGGGTCGCCTCCTCTGCTGGGCAAGTTCCCAGTCTGACGGGCCTGTGCCGTGGGCCCCAGCTGTGGGGGCGCTGTTGATGCGCAGCCAGGCCTCGCCGCCAGAGCCCGCACGCTTCCATTCCGCTGACTTCATCGACGCCCTCAGGATCGCTGGGCCGGCCCTGTGGGAGAGTGAATGTGGCTTTTGCCAAAGTTGAGTCTGGAGCCTGGAAACTTCCCTATGGGCAGCCTTGATAGTGGAGTGGCCCAAGGAGCCCACCCAGCCGACCCTGCCCCTCCCGTGGCTGGTGGGCGGCACCAGGGGCTGCCTGGCTTTGCTCGTTCACCAACATCACCTGGGCTGGCCAGGGCGCGCTCACTTCTGCCACCACCGAGGGCCCTGGGCGAAGGAGTGAATACCAGGCTGCCTTGGCAGGGATGTGTTGAGGGCTGTGGGGAGTCGGACAGCGGCGGGGGTCAGAGGAGGAGGAGGGTGCACCGTGCAGGCTGAAGGGCCACGTTACCCTGAGGTTGGCCAGGCTCCCCAGGCCTAGCCTCCCAGCTCCCCCACTTTCTCCCCACCCTCCACCAGTGGCAAAGCCAGCCCCTTCAGGGCGCACGGTGTCTGCCCCCAAGGAGGGCCCATTCCGTTGGGGTTAATGTTGGCCACCTCTTTCTGTTTGTCTCTGGCAGAAATCACCAAGCCGCCCTCAGACGACAGCCCGGCCCACAGCAGTGCCATCGGGCCCGTCATTGGCATCATCCTCTCTCTCTTCGTCATGGGTGGTGTCTATTTTGTGTGCCAGCGCGTGGTGTGCCAGCGCTATGCGGGGGCCAACGGGCCCTTCCCGCACGAGTATGTCAGCGGGACCCCGCACGTGCCCCTCAATTTCATAGCCCCGGGCGGTTCCCAGCATGGCCCCTTCACAGGTAAGGAGCCTGAGATATGGAATGATCTGGAGGAGGCAGGAGAGTAGTCTGGGCAGCTTTGGGGAGTGGAGCAGGGATGTGCTACCCCAGGCCCTCTTGCACATGTGGCAGACATTGCTAATCGATCACAGCATTCAGCCTTTCCCACTGAGCCTGTGCTTGGCATCAGAATCCTTCAACACAGAGGCCTGCATGGCTGTAGCAACCCACCCTTTGGCACTGTAGGTGTGGAGAAAGCTCCTTGGACTTGACCTTCATATTCTAGTAGGACATGTGCTGTGTTGTCCACAAATCCTCATGTACCCTAGAAATGAATGTGGGGGCGGCTGGGCTCTCTCCAGAGCTGAAGGAA
|
Task1_train_16188
|
A sequence alteration has been identified in LRP5 (LDL receptor related protein 5) on Chromosome 11. Is it disease-inducing or harmless?
|
Pathogenic; Polycystic liver disease 4 with or without kidney cysts
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TGAGCTGCTCTTCAAGTTGCTCCTATGGGGGTTACTTTTAAGCTGGGAAATGGCTGTGGCGTCGAGGGGCCGGGGGCTTGGGCTCCAGAGTCTGACTGTGTGTTTGAGTCCGGCTGTGGAAACCTAGCCATTGAGATGCCCCCTCTTGGTGGCTCTGTCCTCTTAGGATGGGACAAGTCTGTGAAGGCTGCTGCAGCACCCACCGTAGACCCCTAATCGTGTGACGTCACCAGGATGGTCCGGGCTGCTCACTTGCCACAGTGGCCTGTTTGAGCCCGGGAAGCCAACGGGGCTGCTCAGCTGGACACCAGCCCCCCGAGCTGCCCATGTTGGGGTCACAGGCCCCACCTCCCTGGTTGGGGAGGGGCAACTGAGAGTGTGGAGAGGTGGGACCCAGGTGTGCTGGTCTCCGCAGGGGCTGGATCAGAGCCTGGGATGGGCAGGGTGAGCCTCCTGACCTTTAACCCAGTGGTGTCAGGCAACGTGGCCCACCCGCCAGCCGCACCAGGCCCCACCCCCGCAGGTGAAGGGGTGGGATAGGCTGGGCCTGGGCCAGGACACCTCTGGACCACGCATTCCTCATTGCTTGGGTCCCTGGAGCAGCAGGGCCTCCCGAGTGTGGTGCCGCCTGCCACCTAGTGGCCATTTCCACGAACTCCCAGGCCTGGCTGGGGAGCCGGAACTGCAGCCTCCATTTCCACCCCACTCCGGGTCGGGCCACCTCCCTGATGCCTCAGTATTATATCAAACTGTCACAGTCTGTCCCACAGCCTTACAGACCACTGTCTCCAGAATGGTCACATCCACACTGGGCAGCCCAGTCTCGCTAGTTCCTCGTCCCACCTCCTGCCTTTGCTCATGCCCGTCCTGCTCTGGGCCCACCGCGGACACATCTTCCCCCCGCCCGCCGTCTGACCTCACAGCAGCTGGGCCCCAAGAGGAGTATCCTGTCCTGCTGCACTTTTCTCAACACCCGGTGTTGGCTGCACCTTCCCACCCATTGCAGGCCCCTCTGTGACAGGACGGGGGCTCCTAAACACACCACAGTTCCGAGTCTGAACTCACACAGTGGGATGCGGCGTTTCTGGGCCACAGTTGGGTGCAGGTAGCCTCTGGGAGGATGGGAGGTCAGGAGCCATCTTGCGAGTCAGGTTGCTTGAACTCAGGATGGAAGTGTTCCGGGCCCATTGGTTGCTGTATTAGCCTGTTCTCACGCTGCTAATAAAGACATACCCAAGACTGGGTAATTGTAAAGGAAAGAGGTTTAACGGACTCACAGTTCCACCTGCCTGGGGTGGCCTCACAATCATGGTAGAAGACAAGGAGGAGCAAGTCACATCTTACATGGCTTCAGGGAACAGACAGCATGAGAACCAAGCGAAAGGGGTTTCCCCTTGTAAAACCATCAAGTCTAGTGAGATTTATTCACTACCACGAGAACAGTATGGGGGGAACCACCCCCATGATTCAATCATCTCCCACTGGGTCCCTCCCACAGCACGTGGGAATTATGGGAGTACAATTCAAGATGAGATTTGGGTGGGGACACAGCCAAACCCTATCGGTTGCCAACATTTACAGTAACAGTGTTAGGTGAACAGTTGTCCAGTCTCCTGTTTTGTCGGACACTGTTTCTAGCACCTTCCAGGCAGAATCTCATGTATCCTTCACTTTCGAAATGGGTACTATTTCATCCCCACTTTTATCAATGAGAAACTAAAGCTCGAAGAGGTCAAGTAAGTTCCTGGCCAAGGTCAGCTAGCAGGCTCTAGAGGCCTCGTTCTCCTTAGAGGCAGCCTTGCCAGGGCCCAGGCTTGGCAGGCTGCAGGGCAGGTGCGGGCATGCCCATGGTAGAGGTGGGACCATTGAGGCTCAGAGAGGGTAAGTGATGAGCCCTGGCGACACAGCGGGGTGGGTCCAGAGTCCGGCCTGCATCTTCTGGAGCTGGCCAGTGGACAGGCCTTTCCCGTTCACAGCCCCGGGGCTGCTGTGCCCACCAGGGCGGATGTGCCTACCGAATCCCACTCCTCTGTGTGTGTCCCTTTCAGGCCCTACATCATTCGAGGAATGGCGCCCCCGACGACGCCCTGCAGCACCGACGTGTGTGACAGCGACTACAGCGCCAGCCGCTGGAAGGCCAGCAAGTACTACCTGGATTTGAACTCGGACTCAGACCCCTATCCACCCCCACCCACGCCCCACAGCCAGTACCTGTCGGCGGAGGACAGCTGCCCGCCCTCGCCCGCCACCGAGAGGAGCTACTTCCATCTCTTCCCGCCCCCTCCGTCCCCCTGCACGGACTCATCCTGACCTCGGCCGGGCCACTCTGGCTTCTCTGTGCCCCTGTAAATAGTTTTAAATATGAACAAAGAAAAAAATATATTTTATGATTTAAAAAATAAATATAATTGGGATTTTAAAAACATGAGAAATGTGAACTGTGATGGGGTGGGCAGGGCTGGGAGAACTTTGTACAGTGGAGAAATATTTATAAACTTAATTTTGTAAAACAGAACTGCCATTCTTTCGTGCCCTGTGTGCATTTGAGTTGTGTGTCCCCGTGGAGGGAATGCCGACCCCCGGACCACCATGAGAGTCCTCCTGCACCCGGGCGTCCCTCTGTCCGGCTCCTGCAGGGAAGGGCTGGGGCCTTGGGCAGAGGTGGATATCTCCCCTGGGATGCATCCCTGAGCTGCAGGCCGGGCCGGCTTTATGTGCGTGTGGCCTGTGCCGTCAGAAAGGGCCCTGGGCTTCATCACGCTGTTGCTGTTCGTCTTCCTCAGATTCTTAGTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTTCTCTGTCATCCAGGCTGGAGTGCAGTGGTACAATCTCAGCTCACTGCAAGCTCCGACTCCCAGGTTCAAGTGAGTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCGCGCCACCACACCCGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGATCTCGATCTCTTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTACCCAGCTGACTCTTAGTCACTTTTAAGAAGGGGACTGTGCCTTCATTTTTCACTGGGCCCTGCAGAATATATGCCTGGGCTCTGGGCTCTTCTGAACCTGTGTTGGCTTCCATCTGACCTCTCTGTGCCAGCCCAAGGCTGCTGCTCTTCCTGAGGGCAAGGAGCCCCATGACTGCGTGTTGACTCGCTGGATGGGGCTGCTGAGCCCACTCTGCCACACCACGTGCCCCTGGCAGGGAGGGAATCCCTGGGTCCTCACAGGAACAGTCAGCAAGCCACACCTGACGCCTGCTGTGGGCCCATCCCTGCGGTGCTGGAGAAGACAGACAAGGCCTGGTCACTGCCTCTGCAGGGTCCCCAGTCCGTGGAAGGAGACAGTAATCTAGGCATTTTCGGTGGGGAAGCTGAGCTGTTCTCGTGTCCTGAAGGCCAGGCGGGAACAGCCGTCTTCAGAGGGAAGGGAGAAAATGCACATCGCATCAGTGGAGAAGGGCCTGACTTCCCTCAGCATGGTGGAGGGAGGTCAGAAAACAGTCAAGCTTGTTGCTGGGTGACAGTGCATTTAATAATCAAAATATAGGCTGGGTACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGCCAGGAGTTTGAGACCGGCCTGGCCAACATGGCAAAACCTCAACTACTAAAATACAAAAACTAGCCGGGCGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGCTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGCAATACAAAATACAAATATCACTTTCACTAAAAGAAGGGATGGAAGACCCAAAACAAACAGAAAACAACAAAATGGCAGGAGTAAGTCCCCACTTATCAATAATAACATTGACTGTAAATAGGCT
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TGAGCTGCTCTTCAAGTTGCTCCTATGGGGGTTACTTTTAAGCTGGGAAATGGCTGTGGCGTCGAGGGGCCGGGGGCTTGGGCTCCAGAGTCTGACTGTGTGTTTGAGTCCGGCTGTGGAAACCTAGCCATTGAGATGCCCCCTCTTGGTGGCTCTGTCCTCTTAGGATGGGACAAGTCTGTGAAGGCTGCTGCAGCACCCACCGTAGACCCCTAATCGTGTGACGTCACCAGGATGGTCCGGGCTGCTCACTTGCCACAGTGGCCTGTTTGAGCCCGGGAAGCCAACGGGGCTGCTCAGCTGGACACCAGCCCCCCGAGCTGCCCATGTTGGGGTCACAGGCCCCACCTCCCTGGTTGGGGAGGGGCAACTGAGAGTGTGGAGAGGTGGGACCCAGGTGTGCTGGTCTCCGCAGGGGCTGGATCAGAGCCTGGGATGGGCAGGGTGAGCCTCCTGACCTTTAACCCAGTGGTGTCAGGCAACGTGGCCCACCCGCCAGCCGCACCAGGCCCCACCCCCGCAGGTGAAGGGGTGGGATAGGCTGGGCCTGGGCCAGGACACCTCTGGACCACGCATTCCTCATTGCTTGGGTCCCTGGAGCAGCAGGGCCTCCCGAGTGTGGTGCCGCCTGCCACCTAGTGGCCATTTCCACGAACTCCCAGGCCTGGCTGGGGAGCCGGAACTGCAGCCTCCATTTCCACCCCACTCCGGGTCGGGCCACCTCCCTGATGCCTCAGTATTATATCAAACTGTCACAGTCTGTCCCACAGCCTTACAGACCACTGTCTCCAGAATGGTCACATCCACACTGGGCAGCCCAGTCTCGCTAGTTCCTCGTCCCACCTCCTGCCTTTGCTCATGCCCGTCCTGCTCTGGGCCCACCGCGGACACATCTTCCCCCCGCCCGCCGTCTGACCTCACAGCAGCTGGGCCCCAAGAGGAGTATCCTGTCCTGCTGCACTTTTCTCAACACCCGGTGTTGGCTGCACCTTCCCACCCATTGCAGGCCCCTCTGTGACAGGACGGGGGCTCCTAAACACACCACAGTTCCGAGTCTGAACTCACACAGTGGGATGCGGCGTTTCTGGGCCACAGTTGGGTGCAGGTAGCCTCTGGGAGGATGGGAGGTCAGGAGCCATCTTGCGAGTCAGGTTGCTTGAACTCAGGATGGAAGTGTTCCGGGCCCATTGGTTGCTGTATTAGCCTGTTCTCACGCTGCTAATAAAGACATACCCAAGACTGGGTAATTGTAAAGGAAAGAGGTTTAACGGACTCACAGTTCCACCTGCCTGGGGTGGCCTCACAATCATGGTAGAAGACAAGGAGGAGCAAGTCACATCTTACATGGCTTCAGGGAACAGACAGCATGAGAACCAAGCGAAAGGGGTTTCCCCTTGTAAAACCATCAAGTCTAGTGAGATTTATTCACTACCACGAGAACAGTATGGGGGGAACCACCCCCATGATTCAATCATCTCCCACTGGGTCCCTCCCACAGCACGTGGGAATTATGGGAGTACAATTCAAGATGAGATTTGGGTGGGGACACAGCCAAACCCTATCGGTTGCCAACATTTACAGTAACAGTGTTAGGTGAACAGTTGTCCAGTCTCCTGTTTTGTCGGACACTGTTTCTAGCACCTTCCAGGCAGAATCTCATGTATCCTTCACTTTCGAAATGGGTACTATTTCATCCCCACTTTTATCAATGAGAAACTAAAGCTCGAAGAGGTCAAGTAAGTTCCTGGCCAAGGTCAGCTAGCAGGCTCTAGAGGCCTCGTTCTCCTTAGAGGCAGCCTTGCCAGGGCCCAGGCTTGGCAGGCTGCAGGGCAGGTGCGGGCATGCCCATGGTAGAGGTGGGACCATTGAGGCTCAGAGAGGGTAAGTGATGAGCCCTGGCGACACAGCGGGGTGGGTCCAGAGTCCGGCCTGCATCTTCTGGAGCTGGCCAGTGGACAGGCCTTTCCCGTTCACAGCCCCGGGGCTGCTGTGCCCACCAGGGCGGATGTGCCTACCGAATCCCACTCCTCTGTGTGTGTCCCTTTCAGCCCCTACATCATTCGAGGAATGGCGCCCCCGACGACGCCCTGCAGCACCGACGTGTGTGACAGCGACTACAGCGCCAGCCGCTGGAAGGCCAGCAAGTACTACCTGGATTTGAACTCGGACTCAGACCCCTATCCACCCCCACCCACGCCCCACAGCCAGTACCTGTCGGCGGAGGACAGCTGCCCGCCCTCGCCCGCCACCGAGAGGAGCTACTTCCATCTCTTCCCGCCCCCTCCGTCCCCCTGCACGGACTCATCCTGACCTCGGCCGGGCCACTCTGGCTTCTCTGTGCCCCTGTAAATAGTTTTAAATATGAACAAAGAAAAAAATATATTTTATGATTTAAAAAATAAATATAATTGGGATTTTAAAAACATGAGAAATGTGAACTGTGATGGGGTGGGCAGGGCTGGGAGAACTTTGTACAGTGGAGAAATATTTATAAACTTAATTTTGTAAAACAGAACTGCCATTCTTTCGTGCCCTGTGTGCATTTGAGTTGTGTGTCCCCGTGGAGGGAATGCCGACCCCCGGACCACCATGAGAGTCCTCCTGCACCCGGGCGTCCCTCTGTCCGGCTCCTGCAGGGAAGGGCTGGGGCCTTGGGCAGAGGTGGATATCTCCCCTGGGATGCATCCCTGAGCTGCAGGCCGGGCCGGCTTTATGTGCGTGTGGCCTGTGCCGTCAGAAAGGGCCCTGGGCTTCATCACGCTGTTGCTGTTCGTCTTCCTCAGATTCTTAGTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTTCTCTGTCATCCAGGCTGGAGTGCAGTGGTACAATCTCAGCTCACTGCAAGCTCCGACTCCCAGGTTCAAGTGAGTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCGCGCCACCACACCCGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGATCTCGATCTCTTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTACCCAGCTGACTCTTAGTCACTTTTAAGAAGGGGACTGTGCCTTCATTTTTCACTGGGCCCTGCAGAATATATGCCTGGGCTCTGGGCTCTTCTGAACCTGTGTTGGCTTCCATCTGACCTCTCTGTGCCAGCCCAAGGCTGCTGCTCTTCCTGAGGGCAAGGAGCCCCATGACTGCGTGTTGACTCGCTGGATGGGGCTGCTGAGCCCACTCTGCCACACCACGTGCCCCTGGCAGGGAGGGAATCCCTGGGTCCTCACAGGAACAGTCAGCAAGCCACACCTGACGCCTGCTGTGGGCCCATCCCTGCGGTGCTGGAGAAGACAGACAAGGCCTGGTCACTGCCTCTGCAGGGTCCCCAGTCCGTGGAAGGAGACAGTAATCTAGGCATTTTCGGTGGGGAAGCTGAGCTGTTCTCGTGTCCTGAAGGCCAGGCGGGAACAGCCGTCTTCAGAGGGAAGGGAGAAAATGCACATCGCATCAGTGGAGAAGGGCCTGACTTCCCTCAGCATGGTGGAGGGAGGTCAGAAAACAGTCAAGCTTGTTGCTGGGTGACAGTGCATTTAATAATCAAAATATAGGCTGGGTACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGCCAGGAGTTTGAGACCGGCCTGGCCAACATGGCAAAACCTCAACTACTAAAATACAAAAACTAGCCGGGCGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGCTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGCAATACAAAATACAAATATCACTTTCACTAAAAGAAGGGATGGAAGACCCAAAACAAACAGAAAACAACAAAATGGCAGGAGTAAGTCCCCACTTATCAATAATAACATTGACTGTAAATAGGCT
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Task1_train_16189
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An alteration has been detected in LRP5 (LDL receptor related protein 5) on Chromosome 11. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Exudative vitreoretinopathy 4
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AGGGGCCGGGGGCTTGGGCTCCAGAGTCTGACTGTGTGTTTGAGTCCGGCTGTGGAAACCTAGCCATTGAGATGCCCCCTCTTGGTGGCTCTGTCCTCTTAGGATGGGACAAGTCTGTGAAGGCTGCTGCAGCACCCACCGTAGACCCCTAATCGTGTGACGTCACCAGGATGGTCCGGGCTGCTCACTTGCCACAGTGGCCTGTTTGAGCCCGGGAAGCCAACGGGGCTGCTCAGCTGGACACCAGCCCCCCGAGCTGCCCATGTTGGGGTCACAGGCCCCACCTCCCTGGTTGGGGAGGGGCAACTGAGAGTGTGGAGAGGTGGGACCCAGGTGTGCTGGTCTCCGCAGGGGCTGGATCAGAGCCTGGGATGGGCAGGGTGAGCCTCCTGACCTTTAACCCAGTGGTGTCAGGCAACGTGGCCCACCCGCCAGCCGCACCAGGCCCCACCCCCGCAGGTGAAGGGGTGGGATAGGCTGGGCCTGGGCCAGGACACCTCTGGACCACGCATTCCTCATTGCTTGGGTCCCTGGAGCAGCAGGGCCTCCCGAGTGTGGTGCCGCCTGCCACCTAGTGGCCATTTCCACGAACTCCCAGGCCTGGCTGGGGAGCCGGAACTGCAGCCTCCATTTCCACCCCACTCCGGGTCGGGCCACCTCCCTGATGCCTCAGTATTATATCAAACTGTCACAGTCTGTCCCACAGCCTTACAGACCACTGTCTCCAGAATGGTCACATCCACACTGGGCAGCCCAGTCTCGCTAGTTCCTCGTCCCACCTCCTGCCTTTGCTCATGCCCGTCCTGCTCTGGGCCCACCGCGGACACATCTTCCCCCCGCCCGCCGTCTGACCTCACAGCAGCTGGGCCCCAAGAGGAGTATCCTGTCCTGCTGCACTTTTCTCAACACCCGGTGTTGGCTGCACCTTCCCACCCATTGCAGGCCCCTCTGTGACAGGACGGGGGCTCCTAAACACACCACAGTTCCGAGTCTGAACTCACACAGTGGGATGCGGCGTTTCTGGGCCACAGTTGGGTGCAGGTAGCCTCTGGGAGGATGGGAGGTCAGGAGCCATCTTGCGAGTCAGGTTGCTTGAACTCAGGATGGAAGTGTTCCGGGCCCATTGGTTGCTGTATTAGCCTGTTCTCACGCTGCTAATAAAGACATACCCAAGACTGGGTAATTGTAAAGGAAAGAGGTTTAACGGACTCACAGTTCCACCTGCCTGGGGTGGCCTCACAATCATGGTAGAAGACAAGGAGGAGCAAGTCACATCTTACATGGCTTCAGGGAACAGACAGCATGAGAACCAAGCGAAAGGGGTTTCCCCTTGTAAAACCATCAAGTCTAGTGAGATTTATTCACTACCACGAGAACAGTATGGGGGGAACCACCCCCATGATTCAATCATCTCCCACTGGGTCCCTCCCACAGCACGTGGGAATTATGGGAGTACAATTCAAGATGAGATTTGGGTGGGGACACAGCCAAACCCTATCGGTTGCCAACATTTACAGTAACAGTGTTAGGTGAACAGTTGTCCAGTCTCCTGTTTTGTCGGACACTGTTTCTAGCACCTTCCAGGCAGAATCTCATGTATCCTTCACTTTCGAAATGGGTACTATTTCATCCCCACTTTTATCAATGAGAAACTAAAGCTCGAAGAGGTCAAGTAAGTTCCTGGCCAAGGTCAGCTAGCAGGCTCTAGAGGCCTCGTTCTCCTTAGAGGCAGCCTTGCCAGGGCCCAGGCTTGGCAGGCTGCAGGGCAGGTGCGGGCATGCCCATGGTAGAGGTGGGACCATTGAGGCTCAGAGAGGGTAAGTGATGAGCCCTGGCGACACAGCGGGGTGGGTCCAGAGTCCGGCCTGCATCTTCTGGAGCTGGCCAGTGGACAGGCCTTTCCCGTTCACAGCCCCGGGGCTGCTGTGCCCACCAGGGCGGATGTGCCTACCGAATCCCACTCCTCTGTGTGTGTCCCTTTCAGGCCCTACATCATTCGAGGAATGGCGCCCCCGACGACGCCCTGCAGCACCGACGTGTGTGACAGCGACTACAGCGCCAGCCGCTGGAAGGCCAGCAAGTACTACCTGGATTTGAACTCGGACTCAGACCCCTATCCACCCCCACCCACGCCCCACAGCCAGTACCTGTCGGCGGAGGACAGCTGCCCGCCCTCGCCCGCCACCGAGAGGAGCTACTTCCATCTCTTCCCGCCCCCTCCGTCCCCCTGCACGGACTCATCCTGACCTCGGCCGGGCCACTCTGGCTTCTCTGTGCCCCTGTAAATAGTTTTAAATATGAACAAAGAAAAAAATATATTTTATGATTTAAAAAATAAATATAATTGGGATTTTAAAAACATGAGAAATGTGAACTGTGATGGGGTGGGCAGGGCTGGGAGAACTTTGTACAGTGGAGAAATATTTATAAACTTAATTTTGTAAAACAGAACTGCCATTCTTTCGTGCCCTGTGTGCATTTGAGTTGTGTGTCCCCGTGGAGGGAATGCCGACCCCCGGACCACCATGAGAGTCCTCCTGCACCCGGGCGTCCCTCTGTCCGGCTCCTGCAGGGAAGGGCTGGGGCCTTGGGCAGAGGTGGATATCTCCCCTGGGATGCATCCCTGAGCTGCAGGCCGGGCCGGCTTTATGTGCGTGTGGCCTGTGCCGTCAGAAAGGGCCCTGGGCTTCATCACGCTGTTGCTGTTCGTCTTCCTCAGATTCTTAGTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTTCTCTGTCATCCAGGCTGGAGTGCAGTGGTACAATCTCAGCTCACTGCAAGCTCCGACTCCCAGGTTCAAGTGAGTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCGCGCCACCACACCCGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGATCTCGATCTCTTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTACCCAGCTGACTCTTAGTCACTTTTAAGAAGGGGACTGTGCCTTCATTTTTCACTGGGCCCTGCAGAATATATGCCTGGGCTCTGGGCTCTTCTGAACCTGTGTTGGCTTCCATCTGACCTCTCTGTGCCAGCCCAAGGCTGCTGCTCTTCCTGAGGGCAAGGAGCCCCATGACTGCGTGTTGACTCGCTGGATGGGGCTGCTGAGCCCACTCTGCCACACCACGTGCCCCTGGCAGGGAGGGAATCCCTGGGTCCTCACAGGAACAGTCAGCAAGCCACACCTGACGCCTGCTGTGGGCCCATCCCTGCGGTGCTGGAGAAGACAGACAAGGCCTGGTCACTGCCTCTGCAGGGTCCCCAGTCCGTGGAAGGAGACAGTAATCTAGGCATTTTCGGTGGGGAAGCTGAGCTGTTCTCGTGTCCTGAAGGCCAGGCGGGAACAGCCGTCTTCAGAGGGAAGGGAGAAAATGCACATCGCATCAGTGGAGAAGGGCCTGACTTCCCTCAGCATGGTGGAGGGAGGTCAGAAAACAGTCAAGCTTGTTGCTGGGTGACAGTGCATTTAATAATCAAAATATAGGCTGGGTACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGCCAGGAGTTTGAGACCGGCCTGGCCAACATGGCAAAACCTCAACTACTAAAATACAAAAACTAGCCGGGCGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGCTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGCAATACAAAATACAAATATCACTTTCACTAAAAGAAGGGATGGAAGACCCAAAACAAACAGAAAACAACAAAATGGCAGGAGTAAGTCCCCACTTATCAATAATAACATTGACTGTAAATAGGCTAAGCTCTGCAATCAAAAGAGTGGGCCAGGAGCGGTGGCTCACGCCTGTAATTCCAACGCTTTGG
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AGGGGCCGGGGGCTTGGGCTCCAGAGTCTGACTGTGTGTTTGAGTCCGGCTGTGGAAACCTAGCCATTGAGATGCCCCCTCTTGGTGGCTCTGTCCTCTTAGGATGGGACAAGTCTGTGAAGGCTGCTGCAGCACCCACCGTAGACCCCTAATCGTGTGACGTCACCAGGATGGTCCGGGCTGCTCACTTGCCACAGTGGCCTGTTTGAGCCCGGGAAGCCAACGGGGCTGCTCAGCTGGACACCAGCCCCCCGAGCTGCCCATGTTGGGGTCACAGGCCCCACCTCCCTGGTTGGGGAGGGGCAACTGAGAGTGTGGAGAGGTGGGACCCAGGTGTGCTGGTCTCCGCAGGGGCTGGATCAGAGCCTGGGATGGGCAGGGTGAGCCTCCTGACCTTTAACCCAGTGGTGTCAGGCAACGTGGCCCACCCGCCAGCCGCACCAGGCCCCACCCCCGCAGGTGAAGGGGTGGGATAGGCTGGGCCTGGGCCAGGACACCTCTGGACCACGCATTCCTCATTGCTTGGGTCCCTGGAGCAGCAGGGCCTCCCGAGTGTGGTGCCGCCTGCCACCTAGTGGCCATTTCCACGAACTCCCAGGCCTGGCTGGGGAGCCGGAACTGCAGCCTCCATTTCCACCCCACTCCGGGTCGGGCCACCTCCCTGATGCCTCAGTATTATATCAAACTGTCACAGTCTGTCCCACAGCCTTACAGACCACTGTCTCCAGAATGGTCACATCCACACTGGGCAGCCCAGTCTCGCTAGTTCCTCGTCCCACCTCCTGCCTTTGCTCATGCCCGTCCTGCTCTGGGCCCACCGCGGACACATCTTCCCCCCGCCCGCCGTCTGACCTCACAGCAGCTGGGCCCCAAGAGGAGTATCCTGTCCTGCTGCACTTTTCTCAACACCCGGTGTTGGCTGCACCTTCCCACCCATTGCAGGCCCCTCTGTGACAGGACGGGGGCTCCTAAACACACCACAGTTCCGAGTCTGAACTCACACAGTGGGATGCGGCGTTTCTGGGCCACAGTTGGGTGCAGGTAGCCTCTGGGAGGATGGGAGGTCAGGAGCCATCTTGCGAGTCAGGTTGCTTGAACTCAGGATGGAAGTGTTCCGGGCCCATTGGTTGCTGTATTAGCCTGTTCTCACGCTGCTAATAAAGACATACCCAAGACTGGGTAATTGTAAAGGAAAGAGGTTTAACGGACTCACAGTTCCACCTGCCTGGGGTGGCCTCACAATCATGGTAGAAGACAAGGAGGAGCAAGTCACATCTTACATGGCTTCAGGGAACAGACAGCATGAGAACCAAGCGAAAGGGGTTTCCCCTTGTAAAACCATCAAGTCTAGTGAGATTTATTCACTACCACGAGAACAGTATGGGGGGAACCACCCCCATGATTCAATCATCTCCCACTGGGTCCCTCCCACAGCACGTGGGAATTATGGGAGTACAATTCAAGATGAGATTTGGGTGGGGACACAGCCAAACCCTATCGGTTGCCAACATTTACAGTAACAGTGTTAGGTGAACAGTTGTCCAGTCTCCTGTTTTGTCGGACACTGTTTCTAGCACCTTCCAGGCAGAATCTCATGTATCCTTCACTTTCGAAATGGGTACTATTTCATCCCCACTTTTATCAATGAGAAACTAAAGCTCGAAGAGGTCAAGTAAGTTCCTGGCCAAGGTCAGCTAGCAGGCTCTAGAGGCCTCGTTCTCCTTAGAGGCAGCCTTGCCAGGGCCCAGGCTTGGCAGGCTGCAGGGCAGGTGCGGGCATGCCCATGGTAGAGGTGGGACCATTGAGGCTCAGAGAGGGTAAGTGATGAGCCCTGGCGACACAGCGGGGTGGGTCCAGAGTCCGGCCTGCATCTTCTGGAGCTGGCCAGTGGACAGGCCTTTCCCGTTCACAGCCCCGGGGCTGCTGTGCCCACCAGGGCGGATGTGCCTACCGAATCCCACTCCTCTGTGTGTGTCCCTTTCAGGCCCTACATCATTCGAGGAATGGCGCCCCCGACGACGCCCTGCAGCACCGACGTGTGTGACAGCAACTACAGCGCCAGCCGCTGGAAGGCCAGCAAGTACTACCTGGATTTGAACTCGGACTCAGACCCCTATCCACCCCCACCCACGCCCCACAGCCAGTACCTGTCGGCGGAGGACAGCTGCCCGCCCTCGCCCGCCACCGAGAGGAGCTACTTCCATCTCTTCCCGCCCCCTCCGTCCCCCTGCACGGACTCATCCTGACCTCGGCCGGGCCACTCTGGCTTCTCTGTGCCCCTGTAAATAGTTTTAAATATGAACAAAGAAAAAAATATATTTTATGATTTAAAAAATAAATATAATTGGGATTTTAAAAACATGAGAAATGTGAACTGTGATGGGGTGGGCAGGGCTGGGAGAACTTTGTACAGTGGAGAAATATTTATAAACTTAATTTTGTAAAACAGAACTGCCATTCTTTCGTGCCCTGTGTGCATTTGAGTTGTGTGTCCCCGTGGAGGGAATGCCGACCCCCGGACCACCATGAGAGTCCTCCTGCACCCGGGCGTCCCTCTGTCCGGCTCCTGCAGGGAAGGGCTGGGGCCTTGGGCAGAGGTGGATATCTCCCCTGGGATGCATCCCTGAGCTGCAGGCCGGGCCGGCTTTATGTGCGTGTGGCCTGTGCCGTCAGAAAGGGCCCTGGGCTTCATCACGCTGTTGCTGTTCGTCTTCCTCAGATTCTTAGTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTTCTCTGTCATCCAGGCTGGAGTGCAGTGGTACAATCTCAGCTCACTGCAAGCTCCGACTCCCAGGTTCAAGTGAGTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCGCGCCACCACACCCGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGATCTCGATCTCTTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTACCCAGCTGACTCTTAGTCACTTTTAAGAAGGGGACTGTGCCTTCATTTTTCACTGGGCCCTGCAGAATATATGCCTGGGCTCTGGGCTCTTCTGAACCTGTGTTGGCTTCCATCTGACCTCTCTGTGCCAGCCCAAGGCTGCTGCTCTTCCTGAGGGCAAGGAGCCCCATGACTGCGTGTTGACTCGCTGGATGGGGCTGCTGAGCCCACTCTGCCACACCACGTGCCCCTGGCAGGGAGGGAATCCCTGGGTCCTCACAGGAACAGTCAGCAAGCCACACCTGACGCCTGCTGTGGGCCCATCCCTGCGGTGCTGGAGAAGACAGACAAGGCCTGGTCACTGCCTCTGCAGGGTCCCCAGTCCGTGGAAGGAGACAGTAATCTAGGCATTTTCGGTGGGGAAGCTGAGCTGTTCTCGTGTCCTGAAGGCCAGGCGGGAACAGCCGTCTTCAGAGGGAAGGGAGAAAATGCACATCGCATCAGTGGAGAAGGGCCTGACTTCCCTCAGCATGGTGGAGGGAGGTCAGAAAACAGTCAAGCTTGTTGCTGGGTGACAGTGCATTTAATAATCAAAATATAGGCTGGGTACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGCCAGGAGTTTGAGACCGGCCTGGCCAACATGGCAAAACCTCAACTACTAAAATACAAAAACTAGCCGGGCGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGCTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGCAATACAAAATACAAATATCACTTTCACTAAAAGAAGGGATGGAAGACCCAAAACAAACAGAAAACAACAAAATGGCAGGAGTAAGTCCCCACTTATCAATAATAACATTGACTGTAAATAGGCTAAGCTCTGCAATCAAAAGAGTGGGCCAGGAGCGGTGGCTCACGCCTGTAATTCCAACGCTTTGG
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Task1_train_16190
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A variant has been detected on Chromosome 11 in LRP5 (LDL receptor related protein 5). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Polycystic liver disease 4 with or without kidney cysts
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AGGGGCCGGGGGCTTGGGCTCCAGAGTCTGACTGTGTGTTTGAGTCCGGCTGTGGAAACCTAGCCATTGAGATGCCCCCTCTTGGTGGCTCTGTCCTCTTAGGATGGGACAAGTCTGTGAAGGCTGCTGCAGCACCCACCGTAGACCCCTAATCGTGTGACGTCACCAGGATGGTCCGGGCTGCTCACTTGCCACAGTGGCCTGTTTGAGCCCGGGAAGCCAACGGGGCTGCTCAGCTGGACACCAGCCCCCCGAGCTGCCCATGTTGGGGTCACAGGCCCCACCTCCCTGGTTGGGGAGGGGCAACTGAGAGTGTGGAGAGGTGGGACCCAGGTGTGCTGGTCTCCGCAGGGGCTGGATCAGAGCCTGGGATGGGCAGGGTGAGCCTCCTGACCTTTAACCCAGTGGTGTCAGGCAACGTGGCCCACCCGCCAGCCGCACCAGGCCCCACCCCCGCAGGTGAAGGGGTGGGATAGGCTGGGCCTGGGCCAGGACACCTCTGGACCACGCATTCCTCATTGCTTGGGTCCCTGGAGCAGCAGGGCCTCCCGAGTGTGGTGCCGCCTGCCACCTAGTGGCCATTTCCACGAACTCCCAGGCCTGGCTGGGGAGCCGGAACTGCAGCCTCCATTTCCACCCCACTCCGGGTCGGGCCACCTCCCTGATGCCTCAGTATTATATCAAACTGTCACAGTCTGTCCCACAGCCTTACAGACCACTGTCTCCAGAATGGTCACATCCACACTGGGCAGCCCAGTCTCGCTAGTTCCTCGTCCCACCTCCTGCCTTTGCTCATGCCCGTCCTGCTCTGGGCCCACCGCGGACACATCTTCCCCCCGCCCGCCGTCTGACCTCACAGCAGCTGGGCCCCAAGAGGAGTATCCTGTCCTGCTGCACTTTTCTCAACACCCGGTGTTGGCTGCACCTTCCCACCCATTGCAGGCCCCTCTGTGACAGGACGGGGGCTCCTAAACACACCACAGTTCCGAGTCTGAACTCACACAGTGGGATGCGGCGTTTCTGGGCCACAGTTGGGTGCAGGTAGCCTCTGGGAGGATGGGAGGTCAGGAGCCATCTTGCGAGTCAGGTTGCTTGAACTCAGGATGGAAGTGTTCCGGGCCCATTGGTTGCTGTATTAGCCTGTTCTCACGCTGCTAATAAAGACATACCCAAGACTGGGTAATTGTAAAGGAAAGAGGTTTAACGGACTCACAGTTCCACCTGCCTGGGGTGGCCTCACAATCATGGTAGAAGACAAGGAGGAGCAAGTCACATCTTACATGGCTTCAGGGAACAGACAGCATGAGAACCAAGCGAAAGGGGTTTCCCCTTGTAAAACCATCAAGTCTAGTGAGATTTATTCACTACCACGAGAACAGTATGGGGGGAACCACCCCCATGATTCAATCATCTCCCACTGGGTCCCTCCCACAGCACGTGGGAATTATGGGAGTACAATTCAAGATGAGATTTGGGTGGGGACACAGCCAAACCCTATCGGTTGCCAACATTTACAGTAACAGTGTTAGGTGAACAGTTGTCCAGTCTCCTGTTTTGTCGGACACTGTTTCTAGCACCTTCCAGGCAGAATCTCATGTATCCTTCACTTTCGAAATGGGTACTATTTCATCCCCACTTTTATCAATGAGAAACTAAAGCTCGAAGAGGTCAAGTAAGTTCCTGGCCAAGGTCAGCTAGCAGGCTCTAGAGGCCTCGTTCTCCTTAGAGGCAGCCTTGCCAGGGCCCAGGCTTGGCAGGCTGCAGGGCAGGTGCGGGCATGCCCATGGTAGAGGTGGGACCATTGAGGCTCAGAGAGGGTAAGTGATGAGCCCTGGCGACACAGCGGGGTGGGTCCAGAGTCCGGCCTGCATCTTCTGGAGCTGGCCAGTGGACAGGCCTTTCCCGTTCACAGCCCCGGGGCTGCTGTGCCCACCAGGGCGGATGTGCCTACCGAATCCCACTCCTCTGTGTGTGTCCCTTTCAGGCCCTACATCATTCGAGGAATGGCGCCCCCGACGACGCCCTGCAGCACCGACGTGTGTGACAGCGACTACAGCGCCAGCCGCTGGAAGGCCAGCAAGTACTACCTGGATTTGAACTCGGACTCAGACCCCTATCCACCCCCACCCACGCCCCACAGCCAGTACCTGTCGGCGGAGGACAGCTGCCCGCCCTCGCCCGCCACCGAGAGGAGCTACTTCCATCTCTTCCCGCCCCCTCCGTCCCCCTGCACGGACTCATCCTGACCTCGGCCGGGCCACTCTGGCTTCTCTGTGCCCCTGTAAATAGTTTTAAATATGAACAAAGAAAAAAATATATTTTATGATTTAAAAAATAAATATAATTGGGATTTTAAAAACATGAGAAATGTGAACTGTGATGGGGTGGGCAGGGCTGGGAGAACTTTGTACAGTGGAGAAATATTTATAAACTTAATTTTGTAAAACAGAACTGCCATTCTTTCGTGCCCTGTGTGCATTTGAGTTGTGTGTCCCCGTGGAGGGAATGCCGACCCCCGGACCACCATGAGAGTCCTCCTGCACCCGGGCGTCCCTCTGTCCGGCTCCTGCAGGGAAGGGCTGGGGCCTTGGGCAGAGGTGGATATCTCCCCTGGGATGCATCCCTGAGCTGCAGGCCGGGCCGGCTTTATGTGCGTGTGGCCTGTGCCGTCAGAAAGGGCCCTGGGCTTCATCACGCTGTTGCTGTTCGTCTTCCTCAGATTCTTAGTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTTCTCTGTCATCCAGGCTGGAGTGCAGTGGTACAATCTCAGCTCACTGCAAGCTCCGACTCCCAGGTTCAAGTGAGTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCGCGCCACCACACCCGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGATCTCGATCTCTTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTACCCAGCTGACTCTTAGTCACTTTTAAGAAGGGGACTGTGCCTTCATTTTTCACTGGGCCCTGCAGAATATATGCCTGGGCTCTGGGCTCTTCTGAACCTGTGTTGGCTTCCATCTGACCTCTCTGTGCCAGCCCAAGGCTGCTGCTCTTCCTGAGGGCAAGGAGCCCCATGACTGCGTGTTGACTCGCTGGATGGGGCTGCTGAGCCCACTCTGCCACACCACGTGCCCCTGGCAGGGAGGGAATCCCTGGGTCCTCACAGGAACAGTCAGCAAGCCACACCTGACGCCTGCTGTGGGCCCATCCCTGCGGTGCTGGAGAAGACAGACAAGGCCTGGTCACTGCCTCTGCAGGGTCCCCAGTCCGTGGAAGGAGACAGTAATCTAGGCATTTTCGGTGGGGAAGCTGAGCTGTTCTCGTGTCCTGAAGGCCAGGCGGGAACAGCCGTCTTCAGAGGGAAGGGAGAAAATGCACATCGCATCAGTGGAGAAGGGCCTGACTTCCCTCAGCATGGTGGAGGGAGGTCAGAAAACAGTCAAGCTTGTTGCTGGGTGACAGTGCATTTAATAATCAAAATATAGGCTGGGTACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGCCAGGAGTTTGAGACCGGCCTGGCCAACATGGCAAAACCTCAACTACTAAAATACAAAAACTAGCCGGGCGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGCTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGCAATACAAAATACAAATATCACTTTCACTAAAAGAAGGGATGGAAGACCCAAAACAAACAGAAAACAACAAAATGGCAGGAGTAAGTCCCCACTTATCAATAATAACATTGACTGTAAATAGGCTAAGCTCTGCAATCAAAAGAGTGGGCCAGGAGCGGTGGCTCACGCCTGTAATTCCAACGCTTTGG
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AGGGGCCGGGGGCTTGGGCTCCAGAGTCTGACTGTGTGTTTGAGTCCGGCTGTGGAAACCTAGCCATTGAGATGCCCCCTCTTGGTGGCTCTGTCCTCTTAGGATGGGACAAGTCTGTGAAGGCTGCTGCAGCACCCACCGTAGACCCCTAATCGTGTGACGTCACCAGGATGGTCCGGGCTGCTCACTTGCCACAGTGGCCTGTTTGAGCCCGGGAAGCCAACGGGGCTGCTCAGCTGGACACCAGCCCCCCGAGCTGCCCATGTTGGGGTCACAGGCCCCACCTCCCTGGTTGGGGAGGGGCAACTGAGAGTGTGGAGAGGTGGGACCCAGGTGTGCTGGTCTCCGCAGGGGCTGGATCAGAGCCTGGGATGGGCAGGGTGAGCCTCCTGACCTTTAACCCAGTGGTGTCAGGCAACGTGGCCCACCCGCCAGCCGCACCAGGCCCCACCCCCGCAGGTGAAGGGGTGGGATAGGCTGGGCCTGGGCCAGGACACCTCTGGACCACGCATTCCTCATTGCTTGGGTCCCTGGAGCAGCAGGGCCTCCCGAGTGTGGTGCCGCCTGCCACCTAGTGGCCATTTCCACGAACTCCCAGGCCTGGCTGGGGAGCCGGAACTGCAGCCTCCATTTCCACCCCACTCCGGGTCGGGCCACCTCCCTGATGCCTCAGTATTATATCAAACTGTCACAGTCTGTCCCACAGCCTTACAGACCACTGTCTCCAGAATGGTCACATCCACACTGGGCAGCCCAGTCTCGCTAGTTCCTCGTCCCACCTCCTGCCTTTGCTCATGCCCGTCCTGCTCTGGGCCCACCGCGGACACATCTTCCCCCCGCCCGCCGTCTGACCTCACAGCAGCTGGGCCCCAAGAGGAGTATCCTGTCCTGCTGCACTTTTCTCAACACCCGGTGTTGGCTGCACCTTCCCACCCATTGCAGGCCCCTCTGTGACAGGACGGGGGCTCCTAAACACACCACAGTTCCGAGTCTGAACTCACACAGTGGGATGCGGCGTTTCTGGGCCACAGTTGGGTGCAGGTAGCCTCTGGGAGGATGGGAGGTCAGGAGCCATCTTGCGAGTCAGGTTGCTTGAACTCAGGATGGAAGTGTTCCGGGCCCATTGGTTGCTGTATTAGCCTGTTCTCACGCTGCTAATAAAGACATACCCAAGACTGGGTAATTGTAAAGGAAAGAGGTTTAACGGACTCACAGTTCCACCTGCCTGGGGTGGCCTCACAATCATGGTAGAAGACAAGGAGGAGCAAGTCACATCTTACATGGCTTCAGGGAACAGACAGCATGAGAACCAAGCGAAAGGGGTTTCCCCTTGTAAAACCATCAAGTCTAGTGAGATTTATTCACTACCACGAGAACAGTATGGGGGGAACCACCCCCATGATTCAATCATCTCCCACTGGGTCCCTCCCACAGCACGTGGGAATTATGGGAGTACAATTCAAGATGAGATTTGGGTGGGGACACAGCCAAACCCTATCGGTTGCCAACATTTACAGTAACAGTGTTAGGTGAACAGTTGTCCAGTCTCCTGTTTTGTCGGACACTGTTTCTAGCACCTTCCAGGCAGAATCTCATGTATCCTTCACTTTCGAAATGGGTACTATTTCATCCCCACTTTTATCAATGAGAAACTAAAGCTCGAAGAGGTCAAGTAAGTTCCTGGCCAAGGTCAGCTAGCAGGCTCTAGAGGCCTCGTTCTCCTTAGAGGCAGCCTTGCCAGGGCCCAGGCTTGGCAGGCTGCAGGGCAGGTGCGGGCATGCCCATGGTAGAGGTGGGACCATTGAGGCTCAGAGAGGGTAAGTGATGAGCCCTGGCGACACAGCGGGGTGGGTCCAGAGTCCGGCCTGCATCTTCTGGAGCTGGCCAGTGGACAGGCCTTTCCCGTTCACAGCCCCGGGGCTGCTGTGCCCACCAGGGCGGATGTGCCTACCGAATCCCACTCCTCTGTGTGTGTCCCTTTCAGGCCCTACATCATTCGAGGAATGGCGCCCCCGACGACGCCCTGCAGCACCGACGTGTGTGACAGCAACTACAGCGCCAGCCGCTGGAAGGCCAGCAAGTACTACCTGGATTTGAACTCGGACTCAGACCCCTATCCACCCCCACCCACGCCCCACAGCCAGTACCTGTCGGCGGAGGACAGCTGCCCGCCCTCGCCCGCCACCGAGAGGAGCTACTTCCATCTCTTCCCGCCCCCTCCGTCCCCCTGCACGGACTCATCCTGACCTCGGCCGGGCCACTCTGGCTTCTCTGTGCCCCTGTAAATAGTTTTAAATATGAACAAAGAAAAAAATATATTTTATGATTTAAAAAATAAATATAATTGGGATTTTAAAAACATGAGAAATGTGAACTGTGATGGGGTGGGCAGGGCTGGGAGAACTTTGTACAGTGGAGAAATATTTATAAACTTAATTTTGTAAAACAGAACTGCCATTCTTTCGTGCCCTGTGTGCATTTGAGTTGTGTGTCCCCGTGGAGGGAATGCCGACCCCCGGACCACCATGAGAGTCCTCCTGCACCCGGGCGTCCCTCTGTCCGGCTCCTGCAGGGAAGGGCTGGGGCCTTGGGCAGAGGTGGATATCTCCCCTGGGATGCATCCCTGAGCTGCAGGCCGGGCCGGCTTTATGTGCGTGTGGCCTGTGCCGTCAGAAAGGGCCCTGGGCTTCATCACGCTGTTGCTGTTCGTCTTCCTCAGATTCTTAGTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTTCTCTGTCATCCAGGCTGGAGTGCAGTGGTACAATCTCAGCTCACTGCAAGCTCCGACTCCCAGGTTCAAGTGAGTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCGCGCCACCACACCCGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGATCTCGATCTCTTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTACCCAGCTGACTCTTAGTCACTTTTAAGAAGGGGACTGTGCCTTCATTTTTCACTGGGCCCTGCAGAATATATGCCTGGGCTCTGGGCTCTTCTGAACCTGTGTTGGCTTCCATCTGACCTCTCTGTGCCAGCCCAAGGCTGCTGCTCTTCCTGAGGGCAAGGAGCCCCATGACTGCGTGTTGACTCGCTGGATGGGGCTGCTGAGCCCACTCTGCCACACCACGTGCCCCTGGCAGGGAGGGAATCCCTGGGTCCTCACAGGAACAGTCAGCAAGCCACACCTGACGCCTGCTGTGGGCCCATCCCTGCGGTGCTGGAGAAGACAGACAAGGCCTGGTCACTGCCTCTGCAGGGTCCCCAGTCCGTGGAAGGAGACAGTAATCTAGGCATTTTCGGTGGGGAAGCTGAGCTGTTCTCGTGTCCTGAAGGCCAGGCGGGAACAGCCGTCTTCAGAGGGAAGGGAGAAAATGCACATCGCATCAGTGGAGAAGGGCCTGACTTCCCTCAGCATGGTGGAGGGAGGTCAGAAAACAGTCAAGCTTGTTGCTGGGTGACAGTGCATTTAATAATCAAAATATAGGCTGGGTACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGCCAGGAGTTTGAGACCGGCCTGGCCAACATGGCAAAACCTCAACTACTAAAATACAAAAACTAGCCGGGCGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGCTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGCAATACAAAATACAAATATCACTTTCACTAAAAGAAGGGATGGAAGACCCAAAACAAACAGAAAACAACAAAATGGCAGGAGTAAGTCCCCACTTATCAATAATAACATTGACTGTAAATAGGCTAAGCTCTGCAATCAAAAGAGTGGGCCAGGAGCGGTGGCTCACGCCTGTAATTCCAACGCTTTGG
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Task1_train_16191
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A mutation in LRP5 (LDL receptor related protein 5), located on Chromosome 11, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Bone mineral density quantitative trait locus 1
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AGGGGCCGGGGGCTTGGGCTCCAGAGTCTGACTGTGTGTTTGAGTCCGGCTGTGGAAACCTAGCCATTGAGATGCCCCCTCTTGGTGGCTCTGTCCTCTTAGGATGGGACAAGTCTGTGAAGGCTGCTGCAGCACCCACCGTAGACCCCTAATCGTGTGACGTCACCAGGATGGTCCGGGCTGCTCACTTGCCACAGTGGCCTGTTTGAGCCCGGGAAGCCAACGGGGCTGCTCAGCTGGACACCAGCCCCCCGAGCTGCCCATGTTGGGGTCACAGGCCCCACCTCCCTGGTTGGGGAGGGGCAACTGAGAGTGTGGAGAGGTGGGACCCAGGTGTGCTGGTCTCCGCAGGGGCTGGATCAGAGCCTGGGATGGGCAGGGTGAGCCTCCTGACCTTTAACCCAGTGGTGTCAGGCAACGTGGCCCACCCGCCAGCCGCACCAGGCCCCACCCCCGCAGGTGAAGGGGTGGGATAGGCTGGGCCTGGGCCAGGACACCTCTGGACCACGCATTCCTCATTGCTTGGGTCCCTGGAGCAGCAGGGCCTCCCGAGTGTGGTGCCGCCTGCCACCTAGTGGCCATTTCCACGAACTCCCAGGCCTGGCTGGGGAGCCGGAACTGCAGCCTCCATTTCCACCCCACTCCGGGTCGGGCCACCTCCCTGATGCCTCAGTATTATATCAAACTGTCACAGTCTGTCCCACAGCCTTACAGACCACTGTCTCCAGAATGGTCACATCCACACTGGGCAGCCCAGTCTCGCTAGTTCCTCGTCCCACCTCCTGCCTTTGCTCATGCCCGTCCTGCTCTGGGCCCACCGCGGACACATCTTCCCCCCGCCCGCCGTCTGACCTCACAGCAGCTGGGCCCCAAGAGGAGTATCCTGTCCTGCTGCACTTTTCTCAACACCCGGTGTTGGCTGCACCTTCCCACCCATTGCAGGCCCCTCTGTGACAGGACGGGGGCTCCTAAACACACCACAGTTCCGAGTCTGAACTCACACAGTGGGATGCGGCGTTTCTGGGCCACAGTTGGGTGCAGGTAGCCTCTGGGAGGATGGGAGGTCAGGAGCCATCTTGCGAGTCAGGTTGCTTGAACTCAGGATGGAAGTGTTCCGGGCCCATTGGTTGCTGTATTAGCCTGTTCTCACGCTGCTAATAAAGACATACCCAAGACTGGGTAATTGTAAAGGAAAGAGGTTTAACGGACTCACAGTTCCACCTGCCTGGGGTGGCCTCACAATCATGGTAGAAGACAAGGAGGAGCAAGTCACATCTTACATGGCTTCAGGGAACAGACAGCATGAGAACCAAGCGAAAGGGGTTTCCCCTTGTAAAACCATCAAGTCTAGTGAGATTTATTCACTACCACGAGAACAGTATGGGGGGAACCACCCCCATGATTCAATCATCTCCCACTGGGTCCCTCCCACAGCACGTGGGAATTATGGGAGTACAATTCAAGATGAGATTTGGGTGGGGACACAGCCAAACCCTATCGGTTGCCAACATTTACAGTAACAGTGTTAGGTGAACAGTTGTCCAGTCTCCTGTTTTGTCGGACACTGTTTCTAGCACCTTCCAGGCAGAATCTCATGTATCCTTCACTTTCGAAATGGGTACTATTTCATCCCCACTTTTATCAATGAGAAACTAAAGCTCGAAGAGGTCAAGTAAGTTCCTGGCCAAGGTCAGCTAGCAGGCTCTAGAGGCCTCGTTCTCCTTAGAGGCAGCCTTGCCAGGGCCCAGGCTTGGCAGGCTGCAGGGCAGGTGCGGGCATGCCCATGGTAGAGGTGGGACCATTGAGGCTCAGAGAGGGTAAGTGATGAGCCCTGGCGACACAGCGGGGTGGGTCCAGAGTCCGGCCTGCATCTTCTGGAGCTGGCCAGTGGACAGGCCTTTCCCGTTCACAGCCCCGGGGCTGCTGTGCCCACCAGGGCGGATGTGCCTACCGAATCCCACTCCTCTGTGTGTGTCCCTTTCAGGCCCTACATCATTCGAGGAATGGCGCCCCCGACGACGCCCTGCAGCACCGACGTGTGTGACAGCGACTACAGCGCCAGCCGCTGGAAGGCCAGCAAGTACTACCTGGATTTGAACTCGGACTCAGACCCCTATCCACCCCCACCCACGCCCCACAGCCAGTACCTGTCGGCGGAGGACAGCTGCCCGCCCTCGCCCGCCACCGAGAGGAGCTACTTCCATCTCTTCCCGCCCCCTCCGTCCCCCTGCACGGACTCATCCTGACCTCGGCCGGGCCACTCTGGCTTCTCTGTGCCCCTGTAAATAGTTTTAAATATGAACAAAGAAAAAAATATATTTTATGATTTAAAAAATAAATATAATTGGGATTTTAAAAACATGAGAAATGTGAACTGTGATGGGGTGGGCAGGGCTGGGAGAACTTTGTACAGTGGAGAAATATTTATAAACTTAATTTTGTAAAACAGAACTGCCATTCTTTCGTGCCCTGTGTGCATTTGAGTTGTGTGTCCCCGTGGAGGGAATGCCGACCCCCGGACCACCATGAGAGTCCTCCTGCACCCGGGCGTCCCTCTGTCCGGCTCCTGCAGGGAAGGGCTGGGGCCTTGGGCAGAGGTGGATATCTCCCCTGGGATGCATCCCTGAGCTGCAGGCCGGGCCGGCTTTATGTGCGTGTGGCCTGTGCCGTCAGAAAGGGCCCTGGGCTTCATCACGCTGTTGCTGTTCGTCTTCCTCAGATTCTTAGTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTTCTCTGTCATCCAGGCTGGAGTGCAGTGGTACAATCTCAGCTCACTGCAAGCTCCGACTCCCAGGTTCAAGTGAGTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCGCGCCACCACACCCGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGATCTCGATCTCTTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTACCCAGCTGACTCTTAGTCACTTTTAAGAAGGGGACTGTGCCTTCATTTTTCACTGGGCCCTGCAGAATATATGCCTGGGCTCTGGGCTCTTCTGAACCTGTGTTGGCTTCCATCTGACCTCTCTGTGCCAGCCCAAGGCTGCTGCTCTTCCTGAGGGCAAGGAGCCCCATGACTGCGTGTTGACTCGCTGGATGGGGCTGCTGAGCCCACTCTGCCACACCACGTGCCCCTGGCAGGGAGGGAATCCCTGGGTCCTCACAGGAACAGTCAGCAAGCCACACCTGACGCCTGCTGTGGGCCCATCCCTGCGGTGCTGGAGAAGACAGACAAGGCCTGGTCACTGCCTCTGCAGGGTCCCCAGTCCGTGGAAGGAGACAGTAATCTAGGCATTTTCGGTGGGGAAGCTGAGCTGTTCTCGTGTCCTGAAGGCCAGGCGGGAACAGCCGTCTTCAGAGGGAAGGGAGAAAATGCACATCGCATCAGTGGAGAAGGGCCTGACTTCCCTCAGCATGGTGGAGGGAGGTCAGAAAACAGTCAAGCTTGTTGCTGGGTGACAGTGCATTTAATAATCAAAATATAGGCTGGGTACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGCCAGGAGTTTGAGACCGGCCTGGCCAACATGGCAAAACCTCAACTACTAAAATACAAAAACTAGCCGGGCGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGCTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGCAATACAAAATACAAATATCACTTTCACTAAAAGAAGGGATGGAAGACCCAAAACAAACAGAAAACAACAAAATGGCAGGAGTAAGTCCCCACTTATCAATAATAACATTGACTGTAAATAGGCTAAGCTCTGCAATCAAAAGAGTGGGCCAGGAGCGGTGGCTCACGCCTGTAATTCCAACGCTTTGG
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AGGGGCCGGGGGCTTGGGCTCCAGAGTCTGACTGTGTGTTTGAGTCCGGCTGTGGAAACCTAGCCATTGAGATGCCCCCTCTTGGTGGCTCTGTCCTCTTAGGATGGGACAAGTCTGTGAAGGCTGCTGCAGCACCCACCGTAGACCCCTAATCGTGTGACGTCACCAGGATGGTCCGGGCTGCTCACTTGCCACAGTGGCCTGTTTGAGCCCGGGAAGCCAACGGGGCTGCTCAGCTGGACACCAGCCCCCCGAGCTGCCCATGTTGGGGTCACAGGCCCCACCTCCCTGGTTGGGGAGGGGCAACTGAGAGTGTGGAGAGGTGGGACCCAGGTGTGCTGGTCTCCGCAGGGGCTGGATCAGAGCCTGGGATGGGCAGGGTGAGCCTCCTGACCTTTAACCCAGTGGTGTCAGGCAACGTGGCCCACCCGCCAGCCGCACCAGGCCCCACCCCCGCAGGTGAAGGGGTGGGATAGGCTGGGCCTGGGCCAGGACACCTCTGGACCACGCATTCCTCATTGCTTGGGTCCCTGGAGCAGCAGGGCCTCCCGAGTGTGGTGCCGCCTGCCACCTAGTGGCCATTTCCACGAACTCCCAGGCCTGGCTGGGGAGCCGGAACTGCAGCCTCCATTTCCACCCCACTCCGGGTCGGGCCACCTCCCTGATGCCTCAGTATTATATCAAACTGTCACAGTCTGTCCCACAGCCTTACAGACCACTGTCTCCAGAATGGTCACATCCACACTGGGCAGCCCAGTCTCGCTAGTTCCTCGTCCCACCTCCTGCCTTTGCTCATGCCCGTCCTGCTCTGGGCCCACCGCGGACACATCTTCCCCCCGCCCGCCGTCTGACCTCACAGCAGCTGGGCCCCAAGAGGAGTATCCTGTCCTGCTGCACTTTTCTCAACACCCGGTGTTGGCTGCACCTTCCCACCCATTGCAGGCCCCTCTGTGACAGGACGGGGGCTCCTAAACACACCACAGTTCCGAGTCTGAACTCACACAGTGGGATGCGGCGTTTCTGGGCCACAGTTGGGTGCAGGTAGCCTCTGGGAGGATGGGAGGTCAGGAGCCATCTTGCGAGTCAGGTTGCTTGAACTCAGGATGGAAGTGTTCCGGGCCCATTGGTTGCTGTATTAGCCTGTTCTCACGCTGCTAATAAAGACATACCCAAGACTGGGTAATTGTAAAGGAAAGAGGTTTAACGGACTCACAGTTCCACCTGCCTGGGGTGGCCTCACAATCATGGTAGAAGACAAGGAGGAGCAAGTCACATCTTACATGGCTTCAGGGAACAGACAGCATGAGAACCAAGCGAAAGGGGTTTCCCCTTGTAAAACCATCAAGTCTAGTGAGATTTATTCACTACCACGAGAACAGTATGGGGGGAACCACCCCCATGATTCAATCATCTCCCACTGGGTCCCTCCCACAGCACGTGGGAATTATGGGAGTACAATTCAAGATGAGATTTGGGTGGGGACACAGCCAAACCCTATCGGTTGCCAACATTTACAGTAACAGTGTTAGGTGAACAGTTGTCCAGTCTCCTGTTTTGTCGGACACTGTTTCTAGCACCTTCCAGGCAGAATCTCATGTATCCTTCACTTTCGAAATGGGTACTATTTCATCCCCACTTTTATCAATGAGAAACTAAAGCTCGAAGAGGTCAAGTAAGTTCCTGGCCAAGGTCAGCTAGCAGGCTCTAGAGGCCTCGTTCTCCTTAGAGGCAGCCTTGCCAGGGCCCAGGCTTGGCAGGCTGCAGGGCAGGTGCGGGCATGCCCATGGTAGAGGTGGGACCATTGAGGCTCAGAGAGGGTAAGTGATGAGCCCTGGCGACACAGCGGGGTGGGTCCAGAGTCCGGCCTGCATCTTCTGGAGCTGGCCAGTGGACAGGCCTTTCCCGTTCACAGCCCCGGGGCTGCTGTGCCCACCAGGGCGGATGTGCCTACCGAATCCCACTCCTCTGTGTGTGTCCCTTTCAGGCCCTACATCATTCGAGGAATGGCGCCCCCGACGACGCCCTGCAGCACCGACGTGTGTGACAGCAACTACAGCGCCAGCCGCTGGAAGGCCAGCAAGTACTACCTGGATTTGAACTCGGACTCAGACCCCTATCCACCCCCACCCACGCCCCACAGCCAGTACCTGTCGGCGGAGGACAGCTGCCCGCCCTCGCCCGCCACCGAGAGGAGCTACTTCCATCTCTTCCCGCCCCCTCCGTCCCCCTGCACGGACTCATCCTGACCTCGGCCGGGCCACTCTGGCTTCTCTGTGCCCCTGTAAATAGTTTTAAATATGAACAAAGAAAAAAATATATTTTATGATTTAAAAAATAAATATAATTGGGATTTTAAAAACATGAGAAATGTGAACTGTGATGGGGTGGGCAGGGCTGGGAGAACTTTGTACAGTGGAGAAATATTTATAAACTTAATTTTGTAAAACAGAACTGCCATTCTTTCGTGCCCTGTGTGCATTTGAGTTGTGTGTCCCCGTGGAGGGAATGCCGACCCCCGGACCACCATGAGAGTCCTCCTGCACCCGGGCGTCCCTCTGTCCGGCTCCTGCAGGGAAGGGCTGGGGCCTTGGGCAGAGGTGGATATCTCCCCTGGGATGCATCCCTGAGCTGCAGGCCGGGCCGGCTTTATGTGCGTGTGGCCTGTGCCGTCAGAAAGGGCCCTGGGCTTCATCACGCTGTTGCTGTTCGTCTTCCTCAGATTCTTAGTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTTCTCTGTCATCCAGGCTGGAGTGCAGTGGTACAATCTCAGCTCACTGCAAGCTCCGACTCCCAGGTTCAAGTGAGTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCGCGCCACCACACCCGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGATCTCGATCTCTTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTACCCAGCTGACTCTTAGTCACTTTTAAGAAGGGGACTGTGCCTTCATTTTTCACTGGGCCCTGCAGAATATATGCCTGGGCTCTGGGCTCTTCTGAACCTGTGTTGGCTTCCATCTGACCTCTCTGTGCCAGCCCAAGGCTGCTGCTCTTCCTGAGGGCAAGGAGCCCCATGACTGCGTGTTGACTCGCTGGATGGGGCTGCTGAGCCCACTCTGCCACACCACGTGCCCCTGGCAGGGAGGGAATCCCTGGGTCCTCACAGGAACAGTCAGCAAGCCACACCTGACGCCTGCTGTGGGCCCATCCCTGCGGTGCTGGAGAAGACAGACAAGGCCTGGTCACTGCCTCTGCAGGGTCCCCAGTCCGTGGAAGGAGACAGTAATCTAGGCATTTTCGGTGGGGAAGCTGAGCTGTTCTCGTGTCCTGAAGGCCAGGCGGGAACAGCCGTCTTCAGAGGGAAGGGAGAAAATGCACATCGCATCAGTGGAGAAGGGCCTGACTTCCCTCAGCATGGTGGAGGGAGGTCAGAAAACAGTCAAGCTTGTTGCTGGGTGACAGTGCATTTAATAATCAAAATATAGGCTGGGTACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGCCAGGAGTTTGAGACCGGCCTGGCCAACATGGCAAAACCTCAACTACTAAAATACAAAAACTAGCCGGGCGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGCTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGCAATACAAAATACAAATATCACTTTCACTAAAAGAAGGGATGGAAGACCCAAAACAAACAGAAAACAACAAAATGGCAGGAGTAAGTCCCCACTTATCAATAATAACATTGACTGTAAATAGGCTAAGCTCTGCAATCAAAAGAGTGGGCCAGGAGCGGTGGCTCACGCCTGTAATTCCAACGCTTTGG
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Task1_train_16192
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This variant impacts the gene LRP5 (LDL receptor related protein 5) on Chromosome 11. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Worth disease
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AGGGGCCGGGGGCTTGGGCTCCAGAGTCTGACTGTGTGTTTGAGTCCGGCTGTGGAAACCTAGCCATTGAGATGCCCCCTCTTGGTGGCTCTGTCCTCTTAGGATGGGACAAGTCTGTGAAGGCTGCTGCAGCACCCACCGTAGACCCCTAATCGTGTGACGTCACCAGGATGGTCCGGGCTGCTCACTTGCCACAGTGGCCTGTTTGAGCCCGGGAAGCCAACGGGGCTGCTCAGCTGGACACCAGCCCCCCGAGCTGCCCATGTTGGGGTCACAGGCCCCACCTCCCTGGTTGGGGAGGGGCAACTGAGAGTGTGGAGAGGTGGGACCCAGGTGTGCTGGTCTCCGCAGGGGCTGGATCAGAGCCTGGGATGGGCAGGGTGAGCCTCCTGACCTTTAACCCAGTGGTGTCAGGCAACGTGGCCCACCCGCCAGCCGCACCAGGCCCCACCCCCGCAGGTGAAGGGGTGGGATAGGCTGGGCCTGGGCCAGGACACCTCTGGACCACGCATTCCTCATTGCTTGGGTCCCTGGAGCAGCAGGGCCTCCCGAGTGTGGTGCCGCCTGCCACCTAGTGGCCATTTCCACGAACTCCCAGGCCTGGCTGGGGAGCCGGAACTGCAGCCTCCATTTCCACCCCACTCCGGGTCGGGCCACCTCCCTGATGCCTCAGTATTATATCAAACTGTCACAGTCTGTCCCACAGCCTTACAGACCACTGTCTCCAGAATGGTCACATCCACACTGGGCAGCCCAGTCTCGCTAGTTCCTCGTCCCACCTCCTGCCTTTGCTCATGCCCGTCCTGCTCTGGGCCCACCGCGGACACATCTTCCCCCCGCCCGCCGTCTGACCTCACAGCAGCTGGGCCCCAAGAGGAGTATCCTGTCCTGCTGCACTTTTCTCAACACCCGGTGTTGGCTGCACCTTCCCACCCATTGCAGGCCCCTCTGTGACAGGACGGGGGCTCCTAAACACACCACAGTTCCGAGTCTGAACTCACACAGTGGGATGCGGCGTTTCTGGGCCACAGTTGGGTGCAGGTAGCCTCTGGGAGGATGGGAGGTCAGGAGCCATCTTGCGAGTCAGGTTGCTTGAACTCAGGATGGAAGTGTTCCGGGCCCATTGGTTGCTGTATTAGCCTGTTCTCACGCTGCTAATAAAGACATACCCAAGACTGGGTAATTGTAAAGGAAAGAGGTTTAACGGACTCACAGTTCCACCTGCCTGGGGTGGCCTCACAATCATGGTAGAAGACAAGGAGGAGCAAGTCACATCTTACATGGCTTCAGGGAACAGACAGCATGAGAACCAAGCGAAAGGGGTTTCCCCTTGTAAAACCATCAAGTCTAGTGAGATTTATTCACTACCACGAGAACAGTATGGGGGGAACCACCCCCATGATTCAATCATCTCCCACTGGGTCCCTCCCACAGCACGTGGGAATTATGGGAGTACAATTCAAGATGAGATTTGGGTGGGGACACAGCCAAACCCTATCGGTTGCCAACATTTACAGTAACAGTGTTAGGTGAACAGTTGTCCAGTCTCCTGTTTTGTCGGACACTGTTTCTAGCACCTTCCAGGCAGAATCTCATGTATCCTTCACTTTCGAAATGGGTACTATTTCATCCCCACTTTTATCAATGAGAAACTAAAGCTCGAAGAGGTCAAGTAAGTTCCTGGCCAAGGTCAGCTAGCAGGCTCTAGAGGCCTCGTTCTCCTTAGAGGCAGCCTTGCCAGGGCCCAGGCTTGGCAGGCTGCAGGGCAGGTGCGGGCATGCCCATGGTAGAGGTGGGACCATTGAGGCTCAGAGAGGGTAAGTGATGAGCCCTGGCGACACAGCGGGGTGGGTCCAGAGTCCGGCCTGCATCTTCTGGAGCTGGCCAGTGGACAGGCCTTTCCCGTTCACAGCCCCGGGGCTGCTGTGCCCACCAGGGCGGATGTGCCTACCGAATCCCACTCCTCTGTGTGTGTCCCTTTCAGGCCCTACATCATTCGAGGAATGGCGCCCCCGACGACGCCCTGCAGCACCGACGTGTGTGACAGCGACTACAGCGCCAGCCGCTGGAAGGCCAGCAAGTACTACCTGGATTTGAACTCGGACTCAGACCCCTATCCACCCCCACCCACGCCCCACAGCCAGTACCTGTCGGCGGAGGACAGCTGCCCGCCCTCGCCCGCCACCGAGAGGAGCTACTTCCATCTCTTCCCGCCCCCTCCGTCCCCCTGCACGGACTCATCCTGACCTCGGCCGGGCCACTCTGGCTTCTCTGTGCCCCTGTAAATAGTTTTAAATATGAACAAAGAAAAAAATATATTTTATGATTTAAAAAATAAATATAATTGGGATTTTAAAAACATGAGAAATGTGAACTGTGATGGGGTGGGCAGGGCTGGGAGAACTTTGTACAGTGGAGAAATATTTATAAACTTAATTTTGTAAAACAGAACTGCCATTCTTTCGTGCCCTGTGTGCATTTGAGTTGTGTGTCCCCGTGGAGGGAATGCCGACCCCCGGACCACCATGAGAGTCCTCCTGCACCCGGGCGTCCCTCTGTCCGGCTCCTGCAGGGAAGGGCTGGGGCCTTGGGCAGAGGTGGATATCTCCCCTGGGATGCATCCCTGAGCTGCAGGCCGGGCCGGCTTTATGTGCGTGTGGCCTGTGCCGTCAGAAAGGGCCCTGGGCTTCATCACGCTGTTGCTGTTCGTCTTCCTCAGATTCTTAGTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTTCTCTGTCATCCAGGCTGGAGTGCAGTGGTACAATCTCAGCTCACTGCAAGCTCCGACTCCCAGGTTCAAGTGAGTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCGCGCCACCACACCCGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGATCTCGATCTCTTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTACCCAGCTGACTCTTAGTCACTTTTAAGAAGGGGACTGTGCCTTCATTTTTCACTGGGCCCTGCAGAATATATGCCTGGGCTCTGGGCTCTTCTGAACCTGTGTTGGCTTCCATCTGACCTCTCTGTGCCAGCCCAAGGCTGCTGCTCTTCCTGAGGGCAAGGAGCCCCATGACTGCGTGTTGACTCGCTGGATGGGGCTGCTGAGCCCACTCTGCCACACCACGTGCCCCTGGCAGGGAGGGAATCCCTGGGTCCTCACAGGAACAGTCAGCAAGCCACACCTGACGCCTGCTGTGGGCCCATCCCTGCGGTGCTGGAGAAGACAGACAAGGCCTGGTCACTGCCTCTGCAGGGTCCCCAGTCCGTGGAAGGAGACAGTAATCTAGGCATTTTCGGTGGGGAAGCTGAGCTGTTCTCGTGTCCTGAAGGCCAGGCGGGAACAGCCGTCTTCAGAGGGAAGGGAGAAAATGCACATCGCATCAGTGGAGAAGGGCCTGACTTCCCTCAGCATGGTGGAGGGAGGTCAGAAAACAGTCAAGCTTGTTGCTGGGTGACAGTGCATTTAATAATCAAAATATAGGCTGGGTACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGCCAGGAGTTTGAGACCGGCCTGGCCAACATGGCAAAACCTCAACTACTAAAATACAAAAACTAGCCGGGCGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGCTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGCAATACAAAATACAAATATCACTTTCACTAAAAGAAGGGATGGAAGACCCAAAACAAACAGAAAACAACAAAATGGCAGGAGTAAGTCCCCACTTATCAATAATAACATTGACTGTAAATAGGCTAAGCTCTGCAATCAAAAGAGTGGGCCAGGAGCGGTGGCTCACGCCTGTAATTCCAACGCTTTGG
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AGGGGCCGGGGGCTTGGGCTCCAGAGTCTGACTGTGTGTTTGAGTCCGGCTGTGGAAACCTAGCCATTGAGATGCCCCCTCTTGGTGGCTCTGTCCTCTTAGGATGGGACAAGTCTGTGAAGGCTGCTGCAGCACCCACCGTAGACCCCTAATCGTGTGACGTCACCAGGATGGTCCGGGCTGCTCACTTGCCACAGTGGCCTGTTTGAGCCCGGGAAGCCAACGGGGCTGCTCAGCTGGACACCAGCCCCCCGAGCTGCCCATGTTGGGGTCACAGGCCCCACCTCCCTGGTTGGGGAGGGGCAACTGAGAGTGTGGAGAGGTGGGACCCAGGTGTGCTGGTCTCCGCAGGGGCTGGATCAGAGCCTGGGATGGGCAGGGTGAGCCTCCTGACCTTTAACCCAGTGGTGTCAGGCAACGTGGCCCACCCGCCAGCCGCACCAGGCCCCACCCCCGCAGGTGAAGGGGTGGGATAGGCTGGGCCTGGGCCAGGACACCTCTGGACCACGCATTCCTCATTGCTTGGGTCCCTGGAGCAGCAGGGCCTCCCGAGTGTGGTGCCGCCTGCCACCTAGTGGCCATTTCCACGAACTCCCAGGCCTGGCTGGGGAGCCGGAACTGCAGCCTCCATTTCCACCCCACTCCGGGTCGGGCCACCTCCCTGATGCCTCAGTATTATATCAAACTGTCACAGTCTGTCCCACAGCCTTACAGACCACTGTCTCCAGAATGGTCACATCCACACTGGGCAGCCCAGTCTCGCTAGTTCCTCGTCCCACCTCCTGCCTTTGCTCATGCCCGTCCTGCTCTGGGCCCACCGCGGACACATCTTCCCCCCGCCCGCCGTCTGACCTCACAGCAGCTGGGCCCCAAGAGGAGTATCCTGTCCTGCTGCACTTTTCTCAACACCCGGTGTTGGCTGCACCTTCCCACCCATTGCAGGCCCCTCTGTGACAGGACGGGGGCTCCTAAACACACCACAGTTCCGAGTCTGAACTCACACAGTGGGATGCGGCGTTTCTGGGCCACAGTTGGGTGCAGGTAGCCTCTGGGAGGATGGGAGGTCAGGAGCCATCTTGCGAGTCAGGTTGCTTGAACTCAGGATGGAAGTGTTCCGGGCCCATTGGTTGCTGTATTAGCCTGTTCTCACGCTGCTAATAAAGACATACCCAAGACTGGGTAATTGTAAAGGAAAGAGGTTTAACGGACTCACAGTTCCACCTGCCTGGGGTGGCCTCACAATCATGGTAGAAGACAAGGAGGAGCAAGTCACATCTTACATGGCTTCAGGGAACAGACAGCATGAGAACCAAGCGAAAGGGGTTTCCCCTTGTAAAACCATCAAGTCTAGTGAGATTTATTCACTACCACGAGAACAGTATGGGGGGAACCACCCCCATGATTCAATCATCTCCCACTGGGTCCCTCCCACAGCACGTGGGAATTATGGGAGTACAATTCAAGATGAGATTTGGGTGGGGACACAGCCAAACCCTATCGGTTGCCAACATTTACAGTAACAGTGTTAGGTGAACAGTTGTCCAGTCTCCTGTTTTGTCGGACACTGTTTCTAGCACCTTCCAGGCAGAATCTCATGTATCCTTCACTTTCGAAATGGGTACTATTTCATCCCCACTTTTATCAATGAGAAACTAAAGCTCGAAGAGGTCAAGTAAGTTCCTGGCCAAGGTCAGCTAGCAGGCTCTAGAGGCCTCGTTCTCCTTAGAGGCAGCCTTGCCAGGGCCCAGGCTTGGCAGGCTGCAGGGCAGGTGCGGGCATGCCCATGGTAGAGGTGGGACCATTGAGGCTCAGAGAGGGTAAGTGATGAGCCCTGGCGACACAGCGGGGTGGGTCCAGAGTCCGGCCTGCATCTTCTGGAGCTGGCCAGTGGACAGGCCTTTCCCGTTCACAGCCCCGGGGCTGCTGTGCCCACCAGGGCGGATGTGCCTACCGAATCCCACTCCTCTGTGTGTGTCCCTTTCAGGCCCTACATCATTCGAGGAATGGCGCCCCCGACGACGCCCTGCAGCACCGACGTGTGTGACAGCAACTACAGCGCCAGCCGCTGGAAGGCCAGCAAGTACTACCTGGATTTGAACTCGGACTCAGACCCCTATCCACCCCCACCCACGCCCCACAGCCAGTACCTGTCGGCGGAGGACAGCTGCCCGCCCTCGCCCGCCACCGAGAGGAGCTACTTCCATCTCTTCCCGCCCCCTCCGTCCCCCTGCACGGACTCATCCTGACCTCGGCCGGGCCACTCTGGCTTCTCTGTGCCCCTGTAAATAGTTTTAAATATGAACAAAGAAAAAAATATATTTTATGATTTAAAAAATAAATATAATTGGGATTTTAAAAACATGAGAAATGTGAACTGTGATGGGGTGGGCAGGGCTGGGAGAACTTTGTACAGTGGAGAAATATTTATAAACTTAATTTTGTAAAACAGAACTGCCATTCTTTCGTGCCCTGTGTGCATTTGAGTTGTGTGTCCCCGTGGAGGGAATGCCGACCCCCGGACCACCATGAGAGTCCTCCTGCACCCGGGCGTCCCTCTGTCCGGCTCCTGCAGGGAAGGGCTGGGGCCTTGGGCAGAGGTGGATATCTCCCCTGGGATGCATCCCTGAGCTGCAGGCCGGGCCGGCTTTATGTGCGTGTGGCCTGTGCCGTCAGAAAGGGCCCTGGGCTTCATCACGCTGTTGCTGTTCGTCTTCCTCAGATTCTTAGTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTTCTCTGTCATCCAGGCTGGAGTGCAGTGGTACAATCTCAGCTCACTGCAAGCTCCGACTCCCAGGTTCAAGTGAGTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCGCGCCACCACACCCGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGATCTCGATCTCTTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTACCCAGCTGACTCTTAGTCACTTTTAAGAAGGGGACTGTGCCTTCATTTTTCACTGGGCCCTGCAGAATATATGCCTGGGCTCTGGGCTCTTCTGAACCTGTGTTGGCTTCCATCTGACCTCTCTGTGCCAGCCCAAGGCTGCTGCTCTTCCTGAGGGCAAGGAGCCCCATGACTGCGTGTTGACTCGCTGGATGGGGCTGCTGAGCCCACTCTGCCACACCACGTGCCCCTGGCAGGGAGGGAATCCCTGGGTCCTCACAGGAACAGTCAGCAAGCCACACCTGACGCCTGCTGTGGGCCCATCCCTGCGGTGCTGGAGAAGACAGACAAGGCCTGGTCACTGCCTCTGCAGGGTCCCCAGTCCGTGGAAGGAGACAGTAATCTAGGCATTTTCGGTGGGGAAGCTGAGCTGTTCTCGTGTCCTGAAGGCCAGGCGGGAACAGCCGTCTTCAGAGGGAAGGGAGAAAATGCACATCGCATCAGTGGAGAAGGGCCTGACTTCCCTCAGCATGGTGGAGGGAGGTCAGAAAACAGTCAAGCTTGTTGCTGGGTGACAGTGCATTTAATAATCAAAATATAGGCTGGGTACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGCCAGGAGTTTGAGACCGGCCTGGCCAACATGGCAAAACCTCAACTACTAAAATACAAAAACTAGCCGGGCGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGCTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGCAATACAAAATACAAATATCACTTTCACTAAAAGAAGGGATGGAAGACCCAAAACAAACAGAAAACAACAAAATGGCAGGAGTAAGTCCCCACTTATCAATAATAACATTGACTGTAAATAGGCTAAGCTCTGCAATCAAAAGAGTGGGCCAGGAGCGGTGGCTCACGCCTGTAATTCCAACGCTTTGG
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Task1_train_16193
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This alteration in LRP5 (LDL receptor related protein 5) on Chromosome 11 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Autosomal dominant osteopetrosis 1
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AGGGGCCGGGGGCTTGGGCTCCAGAGTCTGACTGTGTGTTTGAGTCCGGCTGTGGAAACCTAGCCATTGAGATGCCCCCTCTTGGTGGCTCTGTCCTCTTAGGATGGGACAAGTCTGTGAAGGCTGCTGCAGCACCCACCGTAGACCCCTAATCGTGTGACGTCACCAGGATGGTCCGGGCTGCTCACTTGCCACAGTGGCCTGTTTGAGCCCGGGAAGCCAACGGGGCTGCTCAGCTGGACACCAGCCCCCCGAGCTGCCCATGTTGGGGTCACAGGCCCCACCTCCCTGGTTGGGGAGGGGCAACTGAGAGTGTGGAGAGGTGGGACCCAGGTGTGCTGGTCTCCGCAGGGGCTGGATCAGAGCCTGGGATGGGCAGGGTGAGCCTCCTGACCTTTAACCCAGTGGTGTCAGGCAACGTGGCCCACCCGCCAGCCGCACCAGGCCCCACCCCCGCAGGTGAAGGGGTGGGATAGGCTGGGCCTGGGCCAGGACACCTCTGGACCACGCATTCCTCATTGCTTGGGTCCCTGGAGCAGCAGGGCCTCCCGAGTGTGGTGCCGCCTGCCACCTAGTGGCCATTTCCACGAACTCCCAGGCCTGGCTGGGGAGCCGGAACTGCAGCCTCCATTTCCACCCCACTCCGGGTCGGGCCACCTCCCTGATGCCTCAGTATTATATCAAACTGTCACAGTCTGTCCCACAGCCTTACAGACCACTGTCTCCAGAATGGTCACATCCACACTGGGCAGCCCAGTCTCGCTAGTTCCTCGTCCCACCTCCTGCCTTTGCTCATGCCCGTCCTGCTCTGGGCCCACCGCGGACACATCTTCCCCCCGCCCGCCGTCTGACCTCACAGCAGCTGGGCCCCAAGAGGAGTATCCTGTCCTGCTGCACTTTTCTCAACACCCGGTGTTGGCTGCACCTTCCCACCCATTGCAGGCCCCTCTGTGACAGGACGGGGGCTCCTAAACACACCACAGTTCCGAGTCTGAACTCACACAGTGGGATGCGGCGTTTCTGGGCCACAGTTGGGTGCAGGTAGCCTCTGGGAGGATGGGAGGTCAGGAGCCATCTTGCGAGTCAGGTTGCTTGAACTCAGGATGGAAGTGTTCCGGGCCCATTGGTTGCTGTATTAGCCTGTTCTCACGCTGCTAATAAAGACATACCCAAGACTGGGTAATTGTAAAGGAAAGAGGTTTAACGGACTCACAGTTCCACCTGCCTGGGGTGGCCTCACAATCATGGTAGAAGACAAGGAGGAGCAAGTCACATCTTACATGGCTTCAGGGAACAGACAGCATGAGAACCAAGCGAAAGGGGTTTCCCCTTGTAAAACCATCAAGTCTAGTGAGATTTATTCACTACCACGAGAACAGTATGGGGGGAACCACCCCCATGATTCAATCATCTCCCACTGGGTCCCTCCCACAGCACGTGGGAATTATGGGAGTACAATTCAAGATGAGATTTGGGTGGGGACACAGCCAAACCCTATCGGTTGCCAACATTTACAGTAACAGTGTTAGGTGAACAGTTGTCCAGTCTCCTGTTTTGTCGGACACTGTTTCTAGCACCTTCCAGGCAGAATCTCATGTATCCTTCACTTTCGAAATGGGTACTATTTCATCCCCACTTTTATCAATGAGAAACTAAAGCTCGAAGAGGTCAAGTAAGTTCCTGGCCAAGGTCAGCTAGCAGGCTCTAGAGGCCTCGTTCTCCTTAGAGGCAGCCTTGCCAGGGCCCAGGCTTGGCAGGCTGCAGGGCAGGTGCGGGCATGCCCATGGTAGAGGTGGGACCATTGAGGCTCAGAGAGGGTAAGTGATGAGCCCTGGCGACACAGCGGGGTGGGTCCAGAGTCCGGCCTGCATCTTCTGGAGCTGGCCAGTGGACAGGCCTTTCCCGTTCACAGCCCCGGGGCTGCTGTGCCCACCAGGGCGGATGTGCCTACCGAATCCCACTCCTCTGTGTGTGTCCCTTTCAGGCCCTACATCATTCGAGGAATGGCGCCCCCGACGACGCCCTGCAGCACCGACGTGTGTGACAGCGACTACAGCGCCAGCCGCTGGAAGGCCAGCAAGTACTACCTGGATTTGAACTCGGACTCAGACCCCTATCCACCCCCACCCACGCCCCACAGCCAGTACCTGTCGGCGGAGGACAGCTGCCCGCCCTCGCCCGCCACCGAGAGGAGCTACTTCCATCTCTTCCCGCCCCCTCCGTCCCCCTGCACGGACTCATCCTGACCTCGGCCGGGCCACTCTGGCTTCTCTGTGCCCCTGTAAATAGTTTTAAATATGAACAAAGAAAAAAATATATTTTATGATTTAAAAAATAAATATAATTGGGATTTTAAAAACATGAGAAATGTGAACTGTGATGGGGTGGGCAGGGCTGGGAGAACTTTGTACAGTGGAGAAATATTTATAAACTTAATTTTGTAAAACAGAACTGCCATTCTTTCGTGCCCTGTGTGCATTTGAGTTGTGTGTCCCCGTGGAGGGAATGCCGACCCCCGGACCACCATGAGAGTCCTCCTGCACCCGGGCGTCCCTCTGTCCGGCTCCTGCAGGGAAGGGCTGGGGCCTTGGGCAGAGGTGGATATCTCCCCTGGGATGCATCCCTGAGCTGCAGGCCGGGCCGGCTTTATGTGCGTGTGGCCTGTGCCGTCAGAAAGGGCCCTGGGCTTCATCACGCTGTTGCTGTTCGTCTTCCTCAGATTCTTAGTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTTCTCTGTCATCCAGGCTGGAGTGCAGTGGTACAATCTCAGCTCACTGCAAGCTCCGACTCCCAGGTTCAAGTGAGTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCGCGCCACCACACCCGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGATCTCGATCTCTTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTACCCAGCTGACTCTTAGTCACTTTTAAGAAGGGGACTGTGCCTTCATTTTTCACTGGGCCCTGCAGAATATATGCCTGGGCTCTGGGCTCTTCTGAACCTGTGTTGGCTTCCATCTGACCTCTCTGTGCCAGCCCAAGGCTGCTGCTCTTCCTGAGGGCAAGGAGCCCCATGACTGCGTGTTGACTCGCTGGATGGGGCTGCTGAGCCCACTCTGCCACACCACGTGCCCCTGGCAGGGAGGGAATCCCTGGGTCCTCACAGGAACAGTCAGCAAGCCACACCTGACGCCTGCTGTGGGCCCATCCCTGCGGTGCTGGAGAAGACAGACAAGGCCTGGTCACTGCCTCTGCAGGGTCCCCAGTCCGTGGAAGGAGACAGTAATCTAGGCATTTTCGGTGGGGAAGCTGAGCTGTTCTCGTGTCCTGAAGGCCAGGCGGGAACAGCCGTCTTCAGAGGGAAGGGAGAAAATGCACATCGCATCAGTGGAGAAGGGCCTGACTTCCCTCAGCATGGTGGAGGGAGGTCAGAAAACAGTCAAGCTTGTTGCTGGGTGACAGTGCATTTAATAATCAAAATATAGGCTGGGTACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGCCAGGAGTTTGAGACCGGCCTGGCCAACATGGCAAAACCTCAACTACTAAAATACAAAAACTAGCCGGGCGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGCTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGCAATACAAAATACAAATATCACTTTCACTAAAAGAAGGGATGGAAGACCCAAAACAAACAGAAAACAACAAAATGGCAGGAGTAAGTCCCCACTTATCAATAATAACATTGACTGTAAATAGGCTAAGCTCTGCAATCAAAAGAGTGGGCCAGGAGCGGTGGCTCACGCCTGTAATTCCAACGCTTTGG
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AGGGGCCGGGGGCTTGGGCTCCAGAGTCTGACTGTGTGTTTGAGTCCGGCTGTGGAAACCTAGCCATTGAGATGCCCCCTCTTGGTGGCTCTGTCCTCTTAGGATGGGACAAGTCTGTGAAGGCTGCTGCAGCACCCACCGTAGACCCCTAATCGTGTGACGTCACCAGGATGGTCCGGGCTGCTCACTTGCCACAGTGGCCTGTTTGAGCCCGGGAAGCCAACGGGGCTGCTCAGCTGGACACCAGCCCCCCGAGCTGCCCATGTTGGGGTCACAGGCCCCACCTCCCTGGTTGGGGAGGGGCAACTGAGAGTGTGGAGAGGTGGGACCCAGGTGTGCTGGTCTCCGCAGGGGCTGGATCAGAGCCTGGGATGGGCAGGGTGAGCCTCCTGACCTTTAACCCAGTGGTGTCAGGCAACGTGGCCCACCCGCCAGCCGCACCAGGCCCCACCCCCGCAGGTGAAGGGGTGGGATAGGCTGGGCCTGGGCCAGGACACCTCTGGACCACGCATTCCTCATTGCTTGGGTCCCTGGAGCAGCAGGGCCTCCCGAGTGTGGTGCCGCCTGCCACCTAGTGGCCATTTCCACGAACTCCCAGGCCTGGCTGGGGAGCCGGAACTGCAGCCTCCATTTCCACCCCACTCCGGGTCGGGCCACCTCCCTGATGCCTCAGTATTATATCAAACTGTCACAGTCTGTCCCACAGCCTTACAGACCACTGTCTCCAGAATGGTCACATCCACACTGGGCAGCCCAGTCTCGCTAGTTCCTCGTCCCACCTCCTGCCTTTGCTCATGCCCGTCCTGCTCTGGGCCCACCGCGGACACATCTTCCCCCCGCCCGCCGTCTGACCTCACAGCAGCTGGGCCCCAAGAGGAGTATCCTGTCCTGCTGCACTTTTCTCAACACCCGGTGTTGGCTGCACCTTCCCACCCATTGCAGGCCCCTCTGTGACAGGACGGGGGCTCCTAAACACACCACAGTTCCGAGTCTGAACTCACACAGTGGGATGCGGCGTTTCTGGGCCACAGTTGGGTGCAGGTAGCCTCTGGGAGGATGGGAGGTCAGGAGCCATCTTGCGAGTCAGGTTGCTTGAACTCAGGATGGAAGTGTTCCGGGCCCATTGGTTGCTGTATTAGCCTGTTCTCACGCTGCTAATAAAGACATACCCAAGACTGGGTAATTGTAAAGGAAAGAGGTTTAACGGACTCACAGTTCCACCTGCCTGGGGTGGCCTCACAATCATGGTAGAAGACAAGGAGGAGCAAGTCACATCTTACATGGCTTCAGGGAACAGACAGCATGAGAACCAAGCGAAAGGGGTTTCCCCTTGTAAAACCATCAAGTCTAGTGAGATTTATTCACTACCACGAGAACAGTATGGGGGGAACCACCCCCATGATTCAATCATCTCCCACTGGGTCCCTCCCACAGCACGTGGGAATTATGGGAGTACAATTCAAGATGAGATTTGGGTGGGGACACAGCCAAACCCTATCGGTTGCCAACATTTACAGTAACAGTGTTAGGTGAACAGTTGTCCAGTCTCCTGTTTTGTCGGACACTGTTTCTAGCACCTTCCAGGCAGAATCTCATGTATCCTTCACTTTCGAAATGGGTACTATTTCATCCCCACTTTTATCAATGAGAAACTAAAGCTCGAAGAGGTCAAGTAAGTTCCTGGCCAAGGTCAGCTAGCAGGCTCTAGAGGCCTCGTTCTCCTTAGAGGCAGCCTTGCCAGGGCCCAGGCTTGGCAGGCTGCAGGGCAGGTGCGGGCATGCCCATGGTAGAGGTGGGACCATTGAGGCTCAGAGAGGGTAAGTGATGAGCCCTGGCGACACAGCGGGGTGGGTCCAGAGTCCGGCCTGCATCTTCTGGAGCTGGCCAGTGGACAGGCCTTTCCCGTTCACAGCCCCGGGGCTGCTGTGCCCACCAGGGCGGATGTGCCTACCGAATCCCACTCCTCTGTGTGTGTCCCTTTCAGGCCCTACATCATTCGAGGAATGGCGCCCCCGACGACGCCCTGCAGCACCGACGTGTGTGACAGCAACTACAGCGCCAGCCGCTGGAAGGCCAGCAAGTACTACCTGGATTTGAACTCGGACTCAGACCCCTATCCACCCCCACCCACGCCCCACAGCCAGTACCTGTCGGCGGAGGACAGCTGCCCGCCCTCGCCCGCCACCGAGAGGAGCTACTTCCATCTCTTCCCGCCCCCTCCGTCCCCCTGCACGGACTCATCCTGACCTCGGCCGGGCCACTCTGGCTTCTCTGTGCCCCTGTAAATAGTTTTAAATATGAACAAAGAAAAAAATATATTTTATGATTTAAAAAATAAATATAATTGGGATTTTAAAAACATGAGAAATGTGAACTGTGATGGGGTGGGCAGGGCTGGGAGAACTTTGTACAGTGGAGAAATATTTATAAACTTAATTTTGTAAAACAGAACTGCCATTCTTTCGTGCCCTGTGTGCATTTGAGTTGTGTGTCCCCGTGGAGGGAATGCCGACCCCCGGACCACCATGAGAGTCCTCCTGCACCCGGGCGTCCCTCTGTCCGGCTCCTGCAGGGAAGGGCTGGGGCCTTGGGCAGAGGTGGATATCTCCCCTGGGATGCATCCCTGAGCTGCAGGCCGGGCCGGCTTTATGTGCGTGTGGCCTGTGCCGTCAGAAAGGGCCCTGGGCTTCATCACGCTGTTGCTGTTCGTCTTCCTCAGATTCTTAGTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTTCTCTGTCATCCAGGCTGGAGTGCAGTGGTACAATCTCAGCTCACTGCAAGCTCCGACTCCCAGGTTCAAGTGAGTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCGCGCCACCACACCCGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGATCTCGATCTCTTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTACCCAGCTGACTCTTAGTCACTTTTAAGAAGGGGACTGTGCCTTCATTTTTCACTGGGCCCTGCAGAATATATGCCTGGGCTCTGGGCTCTTCTGAACCTGTGTTGGCTTCCATCTGACCTCTCTGTGCCAGCCCAAGGCTGCTGCTCTTCCTGAGGGCAAGGAGCCCCATGACTGCGTGTTGACTCGCTGGATGGGGCTGCTGAGCCCACTCTGCCACACCACGTGCCCCTGGCAGGGAGGGAATCCCTGGGTCCTCACAGGAACAGTCAGCAAGCCACACCTGACGCCTGCTGTGGGCCCATCCCTGCGGTGCTGGAGAAGACAGACAAGGCCTGGTCACTGCCTCTGCAGGGTCCCCAGTCCGTGGAAGGAGACAGTAATCTAGGCATTTTCGGTGGGGAAGCTGAGCTGTTCTCGTGTCCTGAAGGCCAGGCGGGAACAGCCGTCTTCAGAGGGAAGGGAGAAAATGCACATCGCATCAGTGGAGAAGGGCCTGACTTCCCTCAGCATGGTGGAGGGAGGTCAGAAAACAGTCAAGCTTGTTGCTGGGTGACAGTGCATTTAATAATCAAAATATAGGCTGGGTACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGCCAGGAGTTTGAGACCGGCCTGGCCAACATGGCAAAACCTCAACTACTAAAATACAAAAACTAGCCGGGCGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGCTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGCAATACAAAATACAAATATCACTTTCACTAAAAGAAGGGATGGAAGACCCAAAACAAACAGAAAACAACAAAATGGCAGGAGTAAGTCCCCACTTATCAATAATAACATTGACTGTAAATAGGCTAAGCTCTGCAATCAAAAGAGTGGGCCAGGAGCGGTGGCTCACGCCTGTAATTCCAACGCTTTGG
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Task1_train_16194
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Given a variant located on Chromosome 11 and affecting LRP5 (LDL receptor related protein 5), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Osteoporosis with pseudoglioma
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AGGGGCCGGGGGCTTGGGCTCCAGAGTCTGACTGTGTGTTTGAGTCCGGCTGTGGAAACCTAGCCATTGAGATGCCCCCTCTTGGTGGCTCTGTCCTCTTAGGATGGGACAAGTCTGTGAAGGCTGCTGCAGCACCCACCGTAGACCCCTAATCGTGTGACGTCACCAGGATGGTCCGGGCTGCTCACTTGCCACAGTGGCCTGTTTGAGCCCGGGAAGCCAACGGGGCTGCTCAGCTGGACACCAGCCCCCCGAGCTGCCCATGTTGGGGTCACAGGCCCCACCTCCCTGGTTGGGGAGGGGCAACTGAGAGTGTGGAGAGGTGGGACCCAGGTGTGCTGGTCTCCGCAGGGGCTGGATCAGAGCCTGGGATGGGCAGGGTGAGCCTCCTGACCTTTAACCCAGTGGTGTCAGGCAACGTGGCCCACCCGCCAGCCGCACCAGGCCCCACCCCCGCAGGTGAAGGGGTGGGATAGGCTGGGCCTGGGCCAGGACACCTCTGGACCACGCATTCCTCATTGCTTGGGTCCCTGGAGCAGCAGGGCCTCCCGAGTGTGGTGCCGCCTGCCACCTAGTGGCCATTTCCACGAACTCCCAGGCCTGGCTGGGGAGCCGGAACTGCAGCCTCCATTTCCACCCCACTCCGGGTCGGGCCACCTCCCTGATGCCTCAGTATTATATCAAACTGTCACAGTCTGTCCCACAGCCTTACAGACCACTGTCTCCAGAATGGTCACATCCACACTGGGCAGCCCAGTCTCGCTAGTTCCTCGTCCCACCTCCTGCCTTTGCTCATGCCCGTCCTGCTCTGGGCCCACCGCGGACACATCTTCCCCCCGCCCGCCGTCTGACCTCACAGCAGCTGGGCCCCAAGAGGAGTATCCTGTCCTGCTGCACTTTTCTCAACACCCGGTGTTGGCTGCACCTTCCCACCCATTGCAGGCCCCTCTGTGACAGGACGGGGGCTCCTAAACACACCACAGTTCCGAGTCTGAACTCACACAGTGGGATGCGGCGTTTCTGGGCCACAGTTGGGTGCAGGTAGCCTCTGGGAGGATGGGAGGTCAGGAGCCATCTTGCGAGTCAGGTTGCTTGAACTCAGGATGGAAGTGTTCCGGGCCCATTGGTTGCTGTATTAGCCTGTTCTCACGCTGCTAATAAAGACATACCCAAGACTGGGTAATTGTAAAGGAAAGAGGTTTAACGGACTCACAGTTCCACCTGCCTGGGGTGGCCTCACAATCATGGTAGAAGACAAGGAGGAGCAAGTCACATCTTACATGGCTTCAGGGAACAGACAGCATGAGAACCAAGCGAAAGGGGTTTCCCCTTGTAAAACCATCAAGTCTAGTGAGATTTATTCACTACCACGAGAACAGTATGGGGGGAACCACCCCCATGATTCAATCATCTCCCACTGGGTCCCTCCCACAGCACGTGGGAATTATGGGAGTACAATTCAAGATGAGATTTGGGTGGGGACACAGCCAAACCCTATCGGTTGCCAACATTTACAGTAACAGTGTTAGGTGAACAGTTGTCCAGTCTCCTGTTTTGTCGGACACTGTTTCTAGCACCTTCCAGGCAGAATCTCATGTATCCTTCACTTTCGAAATGGGTACTATTTCATCCCCACTTTTATCAATGAGAAACTAAAGCTCGAAGAGGTCAAGTAAGTTCCTGGCCAAGGTCAGCTAGCAGGCTCTAGAGGCCTCGTTCTCCTTAGAGGCAGCCTTGCCAGGGCCCAGGCTTGGCAGGCTGCAGGGCAGGTGCGGGCATGCCCATGGTAGAGGTGGGACCATTGAGGCTCAGAGAGGGTAAGTGATGAGCCCTGGCGACACAGCGGGGTGGGTCCAGAGTCCGGCCTGCATCTTCTGGAGCTGGCCAGTGGACAGGCCTTTCCCGTTCACAGCCCCGGGGCTGCTGTGCCCACCAGGGCGGATGTGCCTACCGAATCCCACTCCTCTGTGTGTGTCCCTTTCAGGCCCTACATCATTCGAGGAATGGCGCCCCCGACGACGCCCTGCAGCACCGACGTGTGTGACAGCGACTACAGCGCCAGCCGCTGGAAGGCCAGCAAGTACTACCTGGATTTGAACTCGGACTCAGACCCCTATCCACCCCCACCCACGCCCCACAGCCAGTACCTGTCGGCGGAGGACAGCTGCCCGCCCTCGCCCGCCACCGAGAGGAGCTACTTCCATCTCTTCCCGCCCCCTCCGTCCCCCTGCACGGACTCATCCTGACCTCGGCCGGGCCACTCTGGCTTCTCTGTGCCCCTGTAAATAGTTTTAAATATGAACAAAGAAAAAAATATATTTTATGATTTAAAAAATAAATATAATTGGGATTTTAAAAACATGAGAAATGTGAACTGTGATGGGGTGGGCAGGGCTGGGAGAACTTTGTACAGTGGAGAAATATTTATAAACTTAATTTTGTAAAACAGAACTGCCATTCTTTCGTGCCCTGTGTGCATTTGAGTTGTGTGTCCCCGTGGAGGGAATGCCGACCCCCGGACCACCATGAGAGTCCTCCTGCACCCGGGCGTCCCTCTGTCCGGCTCCTGCAGGGAAGGGCTGGGGCCTTGGGCAGAGGTGGATATCTCCCCTGGGATGCATCCCTGAGCTGCAGGCCGGGCCGGCTTTATGTGCGTGTGGCCTGTGCCGTCAGAAAGGGCCCTGGGCTTCATCACGCTGTTGCTGTTCGTCTTCCTCAGATTCTTAGTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTTCTCTGTCATCCAGGCTGGAGTGCAGTGGTACAATCTCAGCTCACTGCAAGCTCCGACTCCCAGGTTCAAGTGAGTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCGCGCCACCACACCCGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGATCTCGATCTCTTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTACCCAGCTGACTCTTAGTCACTTTTAAGAAGGGGACTGTGCCTTCATTTTTCACTGGGCCCTGCAGAATATATGCCTGGGCTCTGGGCTCTTCTGAACCTGTGTTGGCTTCCATCTGACCTCTCTGTGCCAGCCCAAGGCTGCTGCTCTTCCTGAGGGCAAGGAGCCCCATGACTGCGTGTTGACTCGCTGGATGGGGCTGCTGAGCCCACTCTGCCACACCACGTGCCCCTGGCAGGGAGGGAATCCCTGGGTCCTCACAGGAACAGTCAGCAAGCCACACCTGACGCCTGCTGTGGGCCCATCCCTGCGGTGCTGGAGAAGACAGACAAGGCCTGGTCACTGCCTCTGCAGGGTCCCCAGTCCGTGGAAGGAGACAGTAATCTAGGCATTTTCGGTGGGGAAGCTGAGCTGTTCTCGTGTCCTGAAGGCCAGGCGGGAACAGCCGTCTTCAGAGGGAAGGGAGAAAATGCACATCGCATCAGTGGAGAAGGGCCTGACTTCCCTCAGCATGGTGGAGGGAGGTCAGAAAACAGTCAAGCTTGTTGCTGGGTGACAGTGCATTTAATAATCAAAATATAGGCTGGGTACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGCCAGGAGTTTGAGACCGGCCTGGCCAACATGGCAAAACCTCAACTACTAAAATACAAAAACTAGCCGGGCGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGCTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGCAATACAAAATACAAATATCACTTTCACTAAAAGAAGGGATGGAAGACCCAAAACAAACAGAAAACAACAAAATGGCAGGAGTAAGTCCCCACTTATCAATAATAACATTGACTGTAAATAGGCTAAGCTCTGCAATCAAAAGAGTGGGCCAGGAGCGGTGGCTCACGCCTGTAATTCCAACGCTTTGG
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AGGGGCCGGGGGCTTGGGCTCCAGAGTCTGACTGTGTGTTTGAGTCCGGCTGTGGAAACCTAGCCATTGAGATGCCCCCTCTTGGTGGCTCTGTCCTCTTAGGATGGGACAAGTCTGTGAAGGCTGCTGCAGCACCCACCGTAGACCCCTAATCGTGTGACGTCACCAGGATGGTCCGGGCTGCTCACTTGCCACAGTGGCCTGTTTGAGCCCGGGAAGCCAACGGGGCTGCTCAGCTGGACACCAGCCCCCCGAGCTGCCCATGTTGGGGTCACAGGCCCCACCTCCCTGGTTGGGGAGGGGCAACTGAGAGTGTGGAGAGGTGGGACCCAGGTGTGCTGGTCTCCGCAGGGGCTGGATCAGAGCCTGGGATGGGCAGGGTGAGCCTCCTGACCTTTAACCCAGTGGTGTCAGGCAACGTGGCCCACCCGCCAGCCGCACCAGGCCCCACCCCCGCAGGTGAAGGGGTGGGATAGGCTGGGCCTGGGCCAGGACACCTCTGGACCACGCATTCCTCATTGCTTGGGTCCCTGGAGCAGCAGGGCCTCCCGAGTGTGGTGCCGCCTGCCACCTAGTGGCCATTTCCACGAACTCCCAGGCCTGGCTGGGGAGCCGGAACTGCAGCCTCCATTTCCACCCCACTCCGGGTCGGGCCACCTCCCTGATGCCTCAGTATTATATCAAACTGTCACAGTCTGTCCCACAGCCTTACAGACCACTGTCTCCAGAATGGTCACATCCACACTGGGCAGCCCAGTCTCGCTAGTTCCTCGTCCCACCTCCTGCCTTTGCTCATGCCCGTCCTGCTCTGGGCCCACCGCGGACACATCTTCCCCCCGCCCGCCGTCTGACCTCACAGCAGCTGGGCCCCAAGAGGAGTATCCTGTCCTGCTGCACTTTTCTCAACACCCGGTGTTGGCTGCACCTTCCCACCCATTGCAGGCCCCTCTGTGACAGGACGGGGGCTCCTAAACACACCACAGTTCCGAGTCTGAACTCACACAGTGGGATGCGGCGTTTCTGGGCCACAGTTGGGTGCAGGTAGCCTCTGGGAGGATGGGAGGTCAGGAGCCATCTTGCGAGTCAGGTTGCTTGAACTCAGGATGGAAGTGTTCCGGGCCCATTGGTTGCTGTATTAGCCTGTTCTCACGCTGCTAATAAAGACATACCCAAGACTGGGTAATTGTAAAGGAAAGAGGTTTAACGGACTCACAGTTCCACCTGCCTGGGGTGGCCTCACAATCATGGTAGAAGACAAGGAGGAGCAAGTCACATCTTACATGGCTTCAGGGAACAGACAGCATGAGAACCAAGCGAAAGGGGTTTCCCCTTGTAAAACCATCAAGTCTAGTGAGATTTATTCACTACCACGAGAACAGTATGGGGGGAACCACCCCCATGATTCAATCATCTCCCACTGGGTCCCTCCCACAGCACGTGGGAATTATGGGAGTACAATTCAAGATGAGATTTGGGTGGGGACACAGCCAAACCCTATCGGTTGCCAACATTTACAGTAACAGTGTTAGGTGAACAGTTGTCCAGTCTCCTGTTTTGTCGGACACTGTTTCTAGCACCTTCCAGGCAGAATCTCATGTATCCTTCACTTTCGAAATGGGTACTATTTCATCCCCACTTTTATCAATGAGAAACTAAAGCTCGAAGAGGTCAAGTAAGTTCCTGGCCAAGGTCAGCTAGCAGGCTCTAGAGGCCTCGTTCTCCTTAGAGGCAGCCTTGCCAGGGCCCAGGCTTGGCAGGCTGCAGGGCAGGTGCGGGCATGCCCATGGTAGAGGTGGGACCATTGAGGCTCAGAGAGGGTAAGTGATGAGCCCTGGCGACACAGCGGGGTGGGTCCAGAGTCCGGCCTGCATCTTCTGGAGCTGGCCAGTGGACAGGCCTTTCCCGTTCACAGCCCCGGGGCTGCTGTGCCCACCAGGGCGGATGTGCCTACCGAATCCCACTCCTCTGTGTGTGTCCCTTTCAGGCCCTACATCATTCGAGGAATGGCGCCCCCGACGACGCCCTGCAGCACCGACGTGTGTGACAGCAACTACAGCGCCAGCCGCTGGAAGGCCAGCAAGTACTACCTGGATTTGAACTCGGACTCAGACCCCTATCCACCCCCACCCACGCCCCACAGCCAGTACCTGTCGGCGGAGGACAGCTGCCCGCCCTCGCCCGCCACCGAGAGGAGCTACTTCCATCTCTTCCCGCCCCCTCCGTCCCCCTGCACGGACTCATCCTGACCTCGGCCGGGCCACTCTGGCTTCTCTGTGCCCCTGTAAATAGTTTTAAATATGAACAAAGAAAAAAATATATTTTATGATTTAAAAAATAAATATAATTGGGATTTTAAAAACATGAGAAATGTGAACTGTGATGGGGTGGGCAGGGCTGGGAGAACTTTGTACAGTGGAGAAATATTTATAAACTTAATTTTGTAAAACAGAACTGCCATTCTTTCGTGCCCTGTGTGCATTTGAGTTGTGTGTCCCCGTGGAGGGAATGCCGACCCCCGGACCACCATGAGAGTCCTCCTGCACCCGGGCGTCCCTCTGTCCGGCTCCTGCAGGGAAGGGCTGGGGCCTTGGGCAGAGGTGGATATCTCCCCTGGGATGCATCCCTGAGCTGCAGGCCGGGCCGGCTTTATGTGCGTGTGGCCTGTGCCGTCAGAAAGGGCCCTGGGCTTCATCACGCTGTTGCTGTTCGTCTTCCTCAGATTCTTAGTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTTCTCTGTCATCCAGGCTGGAGTGCAGTGGTACAATCTCAGCTCACTGCAAGCTCCGACTCCCAGGTTCAAGTGAGTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCGCGCCACCACACCCGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGATCTCGATCTCTTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTACCCAGCTGACTCTTAGTCACTTTTAAGAAGGGGACTGTGCCTTCATTTTTCACTGGGCCCTGCAGAATATATGCCTGGGCTCTGGGCTCTTCTGAACCTGTGTTGGCTTCCATCTGACCTCTCTGTGCCAGCCCAAGGCTGCTGCTCTTCCTGAGGGCAAGGAGCCCCATGACTGCGTGTTGACTCGCTGGATGGGGCTGCTGAGCCCACTCTGCCACACCACGTGCCCCTGGCAGGGAGGGAATCCCTGGGTCCTCACAGGAACAGTCAGCAAGCCACACCTGACGCCTGCTGTGGGCCCATCCCTGCGGTGCTGGAGAAGACAGACAAGGCCTGGTCACTGCCTCTGCAGGGTCCCCAGTCCGTGGAAGGAGACAGTAATCTAGGCATTTTCGGTGGGGAAGCTGAGCTGTTCTCGTGTCCTGAAGGCCAGGCGGGAACAGCCGTCTTCAGAGGGAAGGGAGAAAATGCACATCGCATCAGTGGAGAAGGGCCTGACTTCCCTCAGCATGGTGGAGGGAGGTCAGAAAACAGTCAAGCTTGTTGCTGGGTGACAGTGCATTTAATAATCAAAATATAGGCTGGGTACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGCCAGGAGTTTGAGACCGGCCTGGCCAACATGGCAAAACCTCAACTACTAAAATACAAAAACTAGCCGGGCGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGCTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGCAATACAAAATACAAATATCACTTTCACTAAAAGAAGGGATGGAAGACCCAAAACAAACAGAAAACAACAAAATGGCAGGAGTAAGTCCCCACTTATCAATAATAACATTGACTGTAAATAGGCTAAGCTCTGCAATCAAAAGAGTGGGCCAGGAGCGGTGGCTCACGCCTGTAATTCCAACGCTTTGG
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Task1_train_16195
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Given a variant located on Chromosome 11 and affecting GAL (galanin and GMAP prepropeptide), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Familial temporal lobe epilepsy 8
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GGCCTTGTTCCTGTGGGATGTCTTTGCCTTGGGCACAAGGACAGCCTCTTGCTGCTGCTCTGCCCACCGCCCACCCCTTGGCGGCCTCTGGGAGTCTGGGCTGCTCTCCCTCTGGACCTAACCAGTTGCCCAATGGCTGGACCTGCTTAAAGCTCCCTCTTACAACTGGACCAGGCAGCCAGGGGAGGCACTGAGAGGCCGAGCTTCTGAGCTGGTGCCTGTGGATGCTCGACGGTCCCGCAGCTCCCACAATGGGATGGCCAAGCAGACCCTGAGATCCACAGCCCCCCTTTAGTGAAACAGGAGGGAGGTCGCTGGGCACAGGGAGCCGGGAACGCCTGCCCTCCCCGCCATCGACGGCTCCCGAGGCCTGAACCTTCGCTCCAGCCCCAGCACAAGCCGGCCAGGGCGCAGGGCCAAGTGTTGCCCGCCATTCCCCGGGTACCCCATGACCTCCCAGCTGGGGCTGGCTCGGACTGAGGAGTCGTCCCTGCCCGTCACCCTCTGGGGTCTCCAGTGCTGCGGAGCTCAGCTGGCTTTTGCAGCGGTAGGGGCTGGGAGGAGAAGCTGCAGGGAGACCGCAGGCGTGGGACGTTGTGGGGGGTCAGGCTTGCTCTGGGGCTGGGACCCCGGGGGGAGCAGTGGGGTTGACGCCACAGCGATGACTTGGGCCACGGGTCTGGGGGCTCTCCCGCGGGGCGATTGGGCTCTGTCTTTCGGGATTAGGGTCTCTCCCACAGGGTTTGGGGTTCTCTCTGCAGATTTGGGGGAGTCTCTCCCGCGGGATGAGGGGGGGCTCTCCGCCGCACCCGCCTATGATGGCCCAGAGGACCCGAGCTCGGGTCACTCCCGTCGCCCTCGGGGCTCGGCGAGGGTGCAGGAGGCGGGCGCTGAGCCGGTGACGCGACTCCGGGCGGCTCCCGGGTGCGCCGCATATATAGCAGCGGCGGCGGTGGCGGCGGCCACACCGGGCGGCGGACACGTGGAGGGACCCGGCCCGCGCCTTCTGCCCCTGCTGCCGGCCGCGCCATGCGGTGAGCGCCCCAGGCCGCCAGAGCCCACCCGACCCGGCCCGACGCCCGGACCTGCCGCCCAGACCCGCCACCGCACCCGGACCCCGACGCTCCGAACCCGGGCGCAGCCGCAGCTCAAGGTACTACTGGCGCCGGGCCGACCCTGCGCCCCCGGGAGGCCTCCCCTTCGGCTTTCCTCTGCCCAGGGACGGTTCTGCCAGGGCCCTGGCCCGGCCGCCGCCTCTGCTCCTCCCCGCAGCCCCGGCACTCCTTGCCTCGGGGCGCAGCCCACTCCGGGTTCCGACCCGCCCGCCCTGTCCTTCCCTTCCAGATGGCCCGAGGCAGCGCCCTCCTGCTCGCCTCCCTCCTCCTCGCCGCGGCCCTTTCTGCCTCTGCGGGGCTCTGGTCGCCGGTAAGTGCGGGGCGCGTCTCCTCCGAGCGAAGGGGACATCAGAGCCGGCCGGGCGTGGAGGGCTTCCTGGAGGAGGCAGCCTCCGCCCTGCCCGCGGGGATGGGGGTGGAAAGTGGAAAGGCGGGCGCTGTCCTGGCTGCGGGCGTCGCGGGAAGGGTCCGGGGCTCCCTGGGATTCCCCCCGCGCGCTTCTCCGAGTGTATCAACAGCCCCGGGCTATAACCAGGCCGCCGGGAGAGCTCTGCGCTTCGGGTCAGCGCCTCGGGAAAGCGAGAAGCTCGCCCGTTCCGCAGGGCTTAGTTAGAATGGAGGGCTAGGAGCCACTGGCGTGGCCTCAGCGTCACTAAAGCAGGTGCAGTGCGCTGAGAGTGCGCGGGCTCAGGCCCTCAAGTGAAGTATTTCGTAAATAAAGTGGTTCCATTTTCATGTCAAATATAGCCGACTTAGGGGTAAACCTGGAATTTCGCGAGCTATCCAAAAGCACATGCATTGTTCTAAGTCCTCTGCCATGCCGGGAAAGCCTGGGTGCACCCATTCAGCATAGGCTCCAGGCACAGCCCTGGCATCTGATCCCCTTTTCTCCCTTCAAGGCCAAGGAAAAACGAGGCTGGACCCTGAACAGCGCGGGCTACCTGCTGGGCCCACGTAAGTGACTGACAGCATGGCCTCCCCACTCCTGACCCCACCTGCCCCTCGCTTTGAACCCTGGCTCCTGCCCCTCCGCCTGCGGCTGGGCAGACCCTCTGGCCTCCCTCTTGACCTCATTGCCCGTCTCCATTGCTCTGCACACTTGATCTGTGTACGGTTCTTTCCAGAAGCTTCTCCTGCCCCGGCTCTGCCGCCCTGTCCCGGGGTGAGATTCCCACCCTGGGCTTTGCTCAAGTTCTCCTGGGCTTTCCCGCCTTGCAGTCCTTACAGGCCCTGTTCTGGGCCTCTCCCCAGGCCCCCGGGTCTCCCAAAACACTCAACTCCTCGGCTTGCAGAGCACCCTAGGTCAGCGGACCCCAAATCCTGCCTCCCTCTTCCCTTTCTCCAAGCTCCACACGGGAATTGCCAGATCGCCTGAAGGCAGCCCAGACAGGCTCCCCTCAAAACAAGGTTCAGGTGACCCTGCCTGCCCAAGCCTGTGTCCCCTCCCTCTCCCTGTCCTGTTGTTGTCACCTGTGTCAGCGGTGTCCCCTGCTGCCTGAGGTGAGCCCTAGCCCTAGATGGGACACTGCAGGCTGACACCTCCCCGTGTCCGCCCCCGCCCCTGTCCCAGGCCTCTACTTTCTCCACATCCTTGGTCTGTGCAGCAATGCCTTCTGACTTTCCTCCAAAGGAGGGGACAAGAGGAGGCCTTGGTTCCCTCCTGTAACTCACCTTCCCCTCCACACCTCACCATCCACCTTAAAAGCCTCCCTGTACTGCCTTCTGCCAGAGGAAGGATGTGAACAGCACGCAGGGCCTATCTGAGCCCCGCGGAGCAGCAAATGGGGAGAATGGTGCTCTTCTCCCCATGCCAAGGAAAGCTGACTTAGTTCTCAGTCCCAGAGTCGAATACAGCTTCCTCCTCCTGCAGACGCTTGTTTATCGGGGTCACTCAGAGGACCCCCAGAGTCAGGCTTTAAGAAACAGACACGGGGATGACAGAGCCGCCTGAGGCCGCGTGCGGATCGGTCCAGGCTGTTCACCACAGAGCCTGCTGGTCTCTGTGCGGCCCTCTCATCCTCTCCCTGCCCATGGAGTGGCCTGACCTGCCTGAGGGTCGGCTGATTTCCTCAACCCTTTGCAACCCTGAGCTCTGCCACTCAGAGGGCACCTCATCTTTGTGTGCTACGGGCCCAAAACAAAGGCAGAACTGGTCAATGAGAACATTTATCTGTGTTGCTTTGGAATATTGAAAATCTATTTGTCAAGAAGAGTTTGACCCCTAATTAGAAAACAAACTCATTTTCGCCATCAATTTTACGGCCCTGTTCAGCTGTAGCTAGACGAGTTGTTTGTCAAAATACTTAAAAATGTGCCTTTGATTTCTAGGATCTGCTAGAAATGCAGCAAAAGCAATGTTTTTGCACCAGCTGCTGCTGAACGCAGTGTGGCCGTGGCTGAGGGTGCATCAGTGACATGAGGCGACCTATGATTCCTCTATAAATTTAGCACCAAGAACGGCATCTCTGGAAATACGCGTTAATTCTCCTTTGTCTGGCCTTGTAGATGGCACAGTCCACCCAGGCCAACCAGCTGGAAACACAGAGGCGTCCTCACCCTCGTCCCCATCTCTCATTTCCATTTCCTTTCCTGCACAGCCCCAAATCCAGCCCTCCTCTTCACCCCACGCCTCTTGGTTTACAGCCTTCATCGTTTCTTCCCTGGAATTCTGGGATCTCTGTGCTTGCAATCACAGTTCCTCCATTTTCGCACCACGAAACACACCCACACACACACGGGAACGCACACACGCTCCTGCACCCCCCACCCCCATCCTGTCTCCCTCTGTGACCCTCTCGCTCCCTCTGTCTCTCTCCTTCTCTCTCTCTGGCTCCAGTCCATCTTGCACACAGCTGCCAGAGTGAAAATAAAAATCAGATTCAGTCACAACTTAAACTCTTCAGCGTCCCCCATGCTTTCAGGGACATGAGGACCCAGCTCCTGTTGTCTGCCAGGGAGTCACCCAGTTTGATGCCAGCTCA
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GGCCTTGTTCCTGTGGGATGTCTTTGCCTTGGGCACAAGGACAGCCTCTTGCTGCTGCTCTGCCCACCGCCCACCCCTTGGCGGCCTCTGGGAGTCTGGGCTGCTCTCCCTCTGGACCTAACCAGTTGCCCAATGGCTGGACCTGCTTAAAGCTCCCTCTTACAACTGGACCAGGCAGCCAGGGGAGGCACTGAGAGGCCGAGCTTCTGAGCTGGTGCCTGTGGATGCTCGACGGTCCCGCAGCTCCCACAATGGGATGGCCAAGCAGACCCTGAGATCCACAGCCCCCCTTTAGTGAAACAGGAGGGAGGTCGCTGGGCACAGGGAGCCGGGAACGCCTGCCCTCCCCGCCATCGACGGCTCCCGAGGCCTGAACCTTCGCTCCAGCCCCAGCACAAGCCGGCCAGGGCGCAGGGCCAAGTGTTGCCCGCCATTCCCCGGGTACCCCATGACCTCCCAGCTGGGGCTGGCTCGGACTGAGGAGTCGTCCCTGCCCGTCACCCTCTGGGGTCTCCAGTGCTGCGGAGCTCAGCTGGCTTTTGCAGCGGTAGGGGCTGGGAGGAGAAGCTGCAGGGAGACCGCAGGCGTGGGACGTTGTGGGGGGTCAGGCTTGCTCTGGGGCTGGGACCCCGGGGGGAGCAGTGGGGTTGACGCCACAGCGATGACTTGGGCCACGGGTCTGGGGGCTCTCCCGCGGGGCGATTGGGCTCTGTCTTTCGGGATTAGGGTCTCTCCCACAGGGTTTGGGGTTCTCTCTGCAGATTTGGGGGAGTCTCTCCCGCGGGATGAGGGGGGGCTCTCCGCCGCACCCGCCTATGATGGCCCAGAGGACCCGAGCTCGGGTCACTCCCGTCGCCCTCGGGGCTCGGCGAGGGTGCAGGAGGCGGGCGCTGAGCCGGTGACGCGACTCCGGGCGGCTCCCGGGTGCGCCGCATATATAGCAGCGGCGGCGGTGGCGGCGGCCACACCGGGCGGCGGACACGTGGAGGGACCCGGCCCGCGCCTTCTGCCCCTGCTGCCGGCCGCGCCATGCGGTGAGCGCCCCAGGCCGCCAGAGCCCACCCGACCCGGCCCGACGCCCGGACCTGCCGCCCAGACCCGCCACCGCACCCGGACCCCGACGCTCCGAACCCGGGCGCAGCCGCAGCTCAAGGTACTACTGGCGCCGGGCCGACCCTGCGCCCCCGGGAGGCCTCCCCTTCGGCTTTCCTCTGCCCAGGGACGGTTCTGCCAGGGCCCTGGCCCGGCCGCCGCCTCTGCTCCTCCCCGCAGCCCCGGCACTCCTTGCCTCGGGGCGCAGCCCACTCCGGGTTCCGACCCGCCCGCCCTGTCCTTCCCTTCCAGATGGCCCGAGGCAGCGCCCTCCTGCTCGCCTCCCTCCTCCTCGCCGCGGCCCTTTCTGCCTCTGCGGGGCTCTGGTCGCCGGTAAGTGCGGGGCGCGTCTCCTCCGAGCGAAGGGGACATCAGAGCCGGCCGGGCGTGGAGGGCTTCCTGGAGGAGGCAGCCTCCGCCCTGCCCGCGGGGATGGGGGTGGAAAGTGGAAAGGCGGGCGCTGTCCTGGCTGCGGGCGTCGCGGGAAGGGTCCGGGGCTCCCTGGGATTCCCCCCGCGCGCTTCTCCGAGTGTATCAACAGCCCCGGGCTATAACCAGGCCGCCGGGAGAGCTCTGCGCTTCGGGTCAGCGCCTCGGGAAAGCGAGAAGCTCGCCCGTTCCGCAGGGCTTAGTTAGAATGGAGGGCTAGGAGCCACTGGCGTGGCCTCAGCGTCACTAAAGCAGGTGCAGTGCGCTGAGAGTGCGCGGGCTCAGGCCCTCAAGTGAAGTATTTCGTAAATAAAGTGGTTCCATTTTCATGTCAAATATAGCCGACTTAGGGGTAAACCTGGAATTTCGCGAGCTATCCAAAAGCACATGCATTGTTCTAAGTCCTCTGCCATGCCGGGAAAGCCTGGGTGCACCCATTCAGCATAGGCTCCAGGCACAGCCCTGGCATCTGATCCCCTTTTCTCCCTTCAAGGCCAAGGAAAAACGAGGCTGGACCCTGAACAGCGAGGGCTACCTGCTGGGCCCACGTAAGTGACTGACAGCATGGCCTCCCCACTCCTGACCCCACCTGCCCCTCGCTTTGAACCCTGGCTCCTGCCCCTCCGCCTGCGGCTGGGCAGACCCTCTGGCCTCCCTCTTGACCTCATTGCCCGTCTCCATTGCTCTGCACACTTGATCTGTGTACGGTTCTTTCCAGAAGCTTCTCCTGCCCCGGCTCTGCCGCCCTGTCCCGGGGTGAGATTCCCACCCTGGGCTTTGCTCAAGTTCTCCTGGGCTTTCCCGCCTTGCAGTCCTTACAGGCCCTGTTCTGGGCCTCTCCCCAGGCCCCCGGGTCTCCCAAAACACTCAACTCCTCGGCTTGCAGAGCACCCTAGGTCAGCGGACCCCAAATCCTGCCTCCCTCTTCCCTTTCTCCAAGCTCCACACGGGAATTGCCAGATCGCCTGAAGGCAGCCCAGACAGGCTCCCCTCAAAACAAGGTTCAGGTGACCCTGCCTGCCCAAGCCTGTGTCCCCTCCCTCTCCCTGTCCTGTTGTTGTCACCTGTGTCAGCGGTGTCCCCTGCTGCCTGAGGTGAGCCCTAGCCCTAGATGGGACACTGCAGGCTGACACCTCCCCGTGTCCGCCCCCGCCCCTGTCCCAGGCCTCTACTTTCTCCACATCCTTGGTCTGTGCAGCAATGCCTTCTGACTTTCCTCCAAAGGAGGGGACAAGAGGAGGCCTTGGTTCCCTCCTGTAACTCACCTTCCCCTCCACACCTCACCATCCACCTTAAAAGCCTCCCTGTACTGCCTTCTGCCAGAGGAAGGATGTGAACAGCACGCAGGGCCTATCTGAGCCCCGCGGAGCAGCAAATGGGGAGAATGGTGCTCTTCTCCCCATGCCAAGGAAAGCTGACTTAGTTCTCAGTCCCAGAGTCGAATACAGCTTCCTCCTCCTGCAGACGCTTGTTTATCGGGGTCACTCAGAGGACCCCCAGAGTCAGGCTTTAAGAAACAGACACGGGGATGACAGAGCCGCCTGAGGCCGCGTGCGGATCGGTCCAGGCTGTTCACCACAGAGCCTGCTGGTCTCTGTGCGGCCCTCTCATCCTCTCCCTGCCCATGGAGTGGCCTGACCTGCCTGAGGGTCGGCTGATTTCCTCAACCCTTTGCAACCCTGAGCTCTGCCACTCAGAGGGCACCTCATCTTTGTGTGCTACGGGCCCAAAACAAAGGCAGAACTGGTCAATGAGAACATTTATCTGTGTTGCTTTGGAATATTGAAAATCTATTTGTCAAGAAGAGTTTGACCCCTAATTAGAAAACAAACTCATTTTCGCCATCAATTTTACGGCCCTGTTCAGCTGTAGCTAGACGAGTTGTTTGTCAAAATACTTAAAAATGTGCCTTTGATTTCTAGGATCTGCTAGAAATGCAGCAAAAGCAATGTTTTTGCACCAGCTGCTGCTGAACGCAGTGTGGCCGTGGCTGAGGGTGCATCAGTGACATGAGGCGACCTATGATTCCTCTATAAATTTAGCACCAAGAACGGCATCTCTGGAAATACGCGTTAATTCTCCTTTGTCTGGCCTTGTAGATGGCACAGTCCACCCAGGCCAACCAGCTGGAAACACAGAGGCGTCCTCACCCTCGTCCCCATCTCTCATTTCCATTTCCTTTCCTGCACAGCCCCAAATCCAGCCCTCCTCTTCACCCCACGCCTCTTGGTTTACAGCCTTCATCGTTTCTTCCCTGGAATTCTGGGATCTCTGTGCTTGCAATCACAGTTCCTCCATTTTCGCACCACGAAACACACCCACACACACACGGGAACGCACACACGCTCCTGCACCCCCCACCCCCATCCTGTCTCCCTCTGTGACCCTCTCGCTCCCTCTGTCTCTCTCCTTCTCTCTCTCTGGCTCCAGTCCATCTTGCACACAGCTGCCAGAGTGAAAATAAAAATCAGATTCAGTCACAACTTAAACTCTTCAGCGTCCCCCATGCTTTCAGGGACATGAGGACCCAGCTCCTGTTGTCTGCCAGGGAGTCACCCAGTTTGATGCCAGCTCA
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Task1_train_16196
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This mutation is located in gene CPT1A (carnitine palmitoyltransferase 1A) on Chromosome 11. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Carnitine palmitoyl transferase 1A deficiency
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AGGAGGCTGAAGCTGCAGTGAGCCGAGATCACACCACTGCACTCTAGCCTGGGTGGCAGAGTGAGACCCTGTCTAAAACAAACAAACAAACAAACAACAAAAGAAAACCGCAGTGAACAAATAAACCCCAACTTCCTCTGTTAACAGCGACAGTGGCATGGGTTGCCAGGCTATGTACGACAAGGAAAGCAGAATATAAATAAGGGCAATGTGCCATGCTAGGGAGGAGGTCCCTTGTTCCATCCACAGAGGAAGCCGGGGGTCCCCTGCTCTGTATGCAGATTTCTTAGTGTGTACCCATTATTTTTAGTTCATCTTCCAAGTGCTAAAGAGTCTGAAAGTTACAGCAGCACTCCAACGTTAAGCTTCAAAACCATTGCTGCCAACAGAGGTAAACATGTTAAACCAAATTAGATACATTTCCTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCACTCCATCACCCAGGCTGGAGTGCAGTGGCATGATCCTGGCTCACTACAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGTGCCACCACACCAGCTAAGTTTTGTATTTTTAGTAGAGGCGGGGTTTCACCATGTTGGCCAGGATGGTTTCAAACTCCTCACCTCAAGTGATTGGCCAGCCTCAGCCTCCCAAAGTGCTGAGATTATAGGTGTGAGCCACCGTGCCTGGCTGAGATACATTTGTTTAAAACTAGGTAAAGAGAATTTTGAAATTCACTTATGGCTGGGCACAGTGGCTGAAGCCTGTAATCCCAACACTGGGAGGCTGAGGTAAGAGGATCGCGTGAGCCCAGGAGTTCAAGACTTGCCTGGGAAATGTGGGGAGACCCTGTCTGTACAAACAATTTTTTAATTAAAAAAATTTAGGCCAGGCGCGGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGTCGAGGCAGGTGGATCATCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCCGGGGTAGTGGCGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCAGAGGTTACAGTGAGCCAAGATCTCGCCCCTGCACTCCAGCCTGGGCGACAGAGTGAGACTGTGTCTCCAAAAAAAAAAAAATTTTTTTTTAAAAGCAGTCCATTTATGTGAAAATTCCCGAAATCAAGTAAAAGCAGGCAGTTGAATTGACTTTTTCTGTCAAATTAAAGATGTGTTTCCTTAAAAAGAATAAAGCAAAAATACCCCATCTTCAGAAAAAGGAACTTCTTTTCATACATACCGTCTCAGGGCAAGAGAACTTGGAAGAAATGTGGAAATTGATGAGGTTCTCTCCCACAAGGATGTACGACACACCATAGCCGTCATCAGCAACCTGGAGGACAAGGGAATTTGAATTTGTTGCTGGGAAATGAGACAACGTGAAAAAGGGACTTTCTAATGTTCTAAATGCAACACTGGCGGGGCTCGGTGGCTTCTCCTTGTAATCCCAGCATTTTGGGAGGCTGAGGCAGGCGGGTCACTTGAGCCCAGGGGTTCGAGACCAGCCCGGACAACATGGTGAAACCCTGTCTCTACAAAAAAATACACACACACACACAAATTAGCTGGGCATGGTGGCATGCATCTGTAGTCCCAGCTACTCAGGAGGTGGAGGTGGGAGGATCACCTGAGATGGGGGAGATTCAGGCTGCCATGAGCCATGATCATGCTTACTGCACTCCAGCCTGGGTGACAGAGCGAGACCTTGTCTCAAAAAAATAAAAAATAAGTGCAAGACTGCCAAGGACATCCATAGCAATGATCAGCAGTAATTCCTTTACGGCGGTAGAACCGCAAGGTAACGGGGGCACCCAGCACGGAGATGGGCCCATCACACCCCATTACCCATCCCATCACCACGCCCCACTGCGCCTCGCCCAGCCCCGCCGCACTCACCGGTCCAAAGCCCCCTCCGCTGGACACGTACTCTGGGTTATTCTCCAAGTCAAACAGCTCCACTTGCTGCTGAGGGGTCTGGCTTGTTGATAATCTCCAAGGCTCAGATAAAACCTATTGAGTGAAACAGGGAAATGTTTCCTAATCCCCTCCTCTACCGTCCCTCAGGAGTCGCTTTGGGAAGACGAGAAAAGCCTGGCTTGGTCTTTTGATTGTTCCACACACCACAAGTCTATGTCTCCAAAGGCCTCACTGGCTTGGGCAGCGTATCTGCAGAGAGCATGCGGGGTGGGTGGGGCCCCCAGACTGGGGCAGGGAGTGCAGGGTGGGGGTGGGGGCATACCAGCAAATAGCATCTCAGACAGTGAAGGTAACAGATATATGGAGTAAGATTCGGAACGGGGACAGAGGTGTCAGACTTGTACCAACTCCCACGAGCCAGCTGCCATATTTTCAGAGAATTTTCAAGCTGGCTATTAAATACAGCCACTATTAAAAATTAAATTTGCCAGGCGCAATGGTTCATGTCTGTAATCTCAGCACTTTGGGAACCCGACGCGGGTGGATTGCCTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAACACGGTGAAACCCCGTCTCTACTAAAATACAACAACAAAAAAAATTAGCCAGGCATGGCAGCGTGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATAGCTTGAACCCGGGAGGCGGAGGTTTCAGTGAGCCAAGATGGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCCAAAAAATAAAAAATAAATAAATAAATAAATAAAACTTAAATTAAATTTGAGCTGGGCACAGTGGTGCACATCAGCTACTCAGCAGGCTAAGGACGAAGAATTGCTTGTGTCTAGGAGTTTGAGCCCAGCCTGGGCAACACTGTAAGACCCTGTCTCAAAAAACAATAATAATATATTTCATAAACTTACAATAAAATAAAGGATTTTTAAAACAAAGGTGGTACGCGCTCACAGCTCATCACTCCCTAGTTACTTCCGTGCGTCTTACTGTGACGTAAGCTCTCGAGGTCTTCGGGTCTATTAAGTCAGGGGCTACATGTGACAGCGAAGTTTTTGAAGAAATGCAGTACTAAACGCGCTGCTCACATTTTCCATTTTATGACAGCTACACCCACAGACCCGTTTTTTTCAAATGCCCATTCTGACATTAAAATATGTTCATGCAAGGCTGTAGTAATTTACTAAGTTTTGGTCTAGCCAATACAACTGACGGAAGAAGTGGAAGAGACTTACTTCCTTAAGGAAAGGGGACTCCACAGCGAGATATTTAGACACCACGTAAAGGCAGAAGAGGTGACGATCGATCCCAGAGCCGGTCATGGCGAGGCGATACATATGCTGATGCTTCTCAGACGCCAACTTGAACAACTTCAGCCTCTGTTCCACCTGAGTGACAAAAGGTGGGAAGGACATATGTTGCATGTCTCAAGTTGAGCAGTTACGGATCTAAGTTAGCCACCGCACCCGGCTAATATTTTTTGTTATTTTTAGTAGAGACGGGGTTTCAACATGTTGCCCAGGGTGGTTTCGAACTCCTGAGCTCAGGCAATCCGCCCACCTCATCCTCCCAAAGTACTGGGATTACAGGCGTGAGTCACCGCGCCCGGTCTGACAGCCTTTCCAGAATGAAGTTTGTCTCGGAAAAAAGAGCCCTGGCCAGTGTCTCCTCTGGGGATCAGCGGAAAGCACCTGCACGCTCTGGGGATCAGCAGAAAGCACCTGCACGCTGGAGTCAGGCGGACCCAGTGGCCTGGGTCTGACCTCGGCCATTAGTGAGCAGAATGGCCCAGCAGCTGCTGAATTCATCTAGGCCTCTGTTTCTTTATCTATGGAAATGAACTGATGACACTTCTCAGGACCACTGCTAAGAAAATTTAAAGGACAATGTACAGAAAACCCCCAGGCCCCAGCCTGGCACTTGGGGCCCAGCGTGGCAATGGCTCTAATAACCAATGGAAGGTCCCGTGCGACAGTCACAGCTCACCTA
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AGGAGGCTGAAGCTGCAGTGAGCCGAGATCACACCACTGCACTCTAGCCTGGGTGGCAGAGTGAGACCCTGTCTAAAACAAACAAACAAACAAACAACAAAAGAAAACCGCAGTGAACAAATAAACCCCAACTTCCTCTGTTAACAGCGACAGTGGCATGGGTTGCCAGGCTATGTACGACAAGGAAAGCAGAATATAAATAAGGGCAATGTGCCATGCTAGGGAGGAGGTCCCTTGTTCCATCCACAGAGGAAGCCGGGGGTCCCCTGCTCTGTATGCAGATTTCTTAGTGTGTACCCATTATTTTTAGTTCATCTTCCAAGTGCTAAAGAGTCTGAAAGTTACAGCAGCACTCCAACGTTAAGCTTCAAAACCATTGCTGCCAACAGAGGTAAACATGTTAAACCAAATTAGATACATTTCCTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCACTCCATCACCCAGGCTGGAGTGCAGTGGCATGATCCTGGCTCACTACAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGTGCCACCACACCAGCTAAGTTTTGTATTTTTAGTAGAGGCGGGGTTTCACCATGTTGGCCAGGATGGTTTCAAACTCCTCACCTCAAGTGATTGGCCAGCCTCAGCCTCCCAAAGTGCTGAGATTATAGGTGTGAGCCACCGTGCCTGGCTGAGATACATTTGTTTAAAACTAGGTAAAGAGAATTTTGAAATTCACTTATGGCTGGGCACAGTGGCTGAAGCCTGTAATCCCAACACTGGGAGGCTGAGGTAAGAGGATCGCGTGAGCCCAGGAGTTCAAGACTTGCCTGGGAAATGTGGGGAGACCCTGTCTGTACAAACAATTTTTTAATTAAAAAAATTTAGGCCAGGCGCGGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGTCGAGGCAGGTGGATCATCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCCGGGGTAGTGGCGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCAGAGGTTACAGTGAGCCAAGATCTCGCCCCTGCACTCCAGCCTGGGCGACAGAGTGAGACTGTGTCTCCAAAAAAAAAAAAATTTTTTTTTAAAAGCAGTCCATTTATGTGAAAATTCCCGAAATCAAGTAAAAGCAGGCAGTTGAATTGACTTTTTCTGTCAAATTAAAGATGTGTTTCCTTAAAAAGAATAAAGCAAAAATACCCCATCTTCAGAAAAAGGAACTTCTTTTCATACATACCGTCTCAGGGCAAGAGAACTTGGAAGAAATGTGGAAATTGATGAGGTTCTCTCCCACAAGGATGTACGACACACCATAGCCGTCATCAGCAACCTGGAGGACAAGGGAATTTGAATTTGTTGCTGGGAAATGAGACAACGTGAAAAAGGGACTTTCTAATGTTCTAAATGCAACACTGGCGGGGCTCGGTGGCTTCTCCTTGTAATCCCAGCATTTTGGGAGGCTGAGGCAGGCGGGTCACTTGAGCCCAGGGGTTCGAGACCAGCCCGGACAACATGGTGAAACCCTGTCTCTACAAAAAAATACACACACACACACAAATTAGCTGGGCATGGTGGCATGCATCTGTAGTCCCAGCTACTCAGGAGGTGGAGGTGGGAGGATCACCTGAGATGGGGGAGATTCAGGCTGCCATGAGCCATGATCATGCTTACTGCACTCCAGCCTGGGTGACAGAGCGAGACCTTGTCTCAAAAAAATAAAAAATAAGTGCAAGACTGCCAAGGACATCCATAGCAATGATCAGCAGTAATTCCTTTACGGCGGTAGAACCGCAAGGTAACGGGGGCACCCAGCACGGAGATGGGCCCATCACACCCCATTACCCATCCCATCACCACGCCCCACTGCGCCTCGCCCAGCCCCGCCGCACTCACCGGTCCAAAGCCCCCTTCGCTGGACACGTACTCTGGGTTATTCTCCAAGTCAAACAGCTCCACTTGCTGCTGAGGGGTCTGGCTTGTTGATAATCTCCAAGGCTCAGATAAAACCTATTGAGTGAAACAGGGAAATGTTTCCTAATCCCCTCCTCTACCGTCCCTCAGGAGTCGCTTTGGGAAGACGAGAAAAGCCTGGCTTGGTCTTTTGATTGTTCCACACACCACAAGTCTATGTCTCCAAAGGCCTCACTGGCTTGGGCAGCGTATCTGCAGAGAGCATGCGGGGTGGGTGGGGCCCCCAGACTGGGGCAGGGAGTGCAGGGTGGGGGTGGGGGCATACCAGCAAATAGCATCTCAGACAGTGAAGGTAACAGATATATGGAGTAAGATTCGGAACGGGGACAGAGGTGTCAGACTTGTACCAACTCCCACGAGCCAGCTGCCATATTTTCAGAGAATTTTCAAGCTGGCTATTAAATACAGCCACTATTAAAAATTAAATTTGCCAGGCGCAATGGTTCATGTCTGTAATCTCAGCACTTTGGGAACCCGACGCGGGTGGATTGCCTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAACACGGTGAAACCCCGTCTCTACTAAAATACAACAACAAAAAAAATTAGCCAGGCATGGCAGCGTGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATAGCTTGAACCCGGGAGGCGGAGGTTTCAGTGAGCCAAGATGGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCCAAAAAATAAAAAATAAATAAATAAATAAATAAAACTTAAATTAAATTTGAGCTGGGCACAGTGGTGCACATCAGCTACTCAGCAGGCTAAGGACGAAGAATTGCTTGTGTCTAGGAGTTTGAGCCCAGCCTGGGCAACACTGTAAGACCCTGTCTCAAAAAACAATAATAATATATTTCATAAACTTACAATAAAATAAAGGATTTTTAAAACAAAGGTGGTACGCGCTCACAGCTCATCACTCCCTAGTTACTTCCGTGCGTCTTACTGTGACGTAAGCTCTCGAGGTCTTCGGGTCTATTAAGTCAGGGGCTACATGTGACAGCGAAGTTTTTGAAGAAATGCAGTACTAAACGCGCTGCTCACATTTTCCATTTTATGACAGCTACACCCACAGACCCGTTTTTTTCAAATGCCCATTCTGACATTAAAATATGTTCATGCAAGGCTGTAGTAATTTACTAAGTTTTGGTCTAGCCAATACAACTGACGGAAGAAGTGGAAGAGACTTACTTCCTTAAGGAAAGGGGACTCCACAGCGAGATATTTAGACACCACGTAAAGGCAGAAGAGGTGACGATCGATCCCAGAGCCGGTCATGGCGAGGCGATACATATGCTGATGCTTCTCAGACGCCAACTTGAACAACTTCAGCCTCTGTTCCACCTGAGTGACAAAAGGTGGGAAGGACATATGTTGCATGTCTCAAGTTGAGCAGTTACGGATCTAAGTTAGCCACCGCACCCGGCTAATATTTTTTGTTATTTTTAGTAGAGACGGGGTTTCAACATGTTGCCCAGGGTGGTTTCGAACTCCTGAGCTCAGGCAATCCGCCCACCTCATCCTCCCAAAGTACTGGGATTACAGGCGTGAGTCACCGCGCCCGGTCTGACAGCCTTTCCAGAATGAAGTTTGTCTCGGAAAAAAGAGCCCTGGCCAGTGTCTCCTCTGGGGATCAGCGGAAAGCACCTGCACGCTCTGGGGATCAGCAGAAAGCACCTGCACGCTGGAGTCAGGCGGACCCAGTGGCCTGGGTCTGACCTCGGCCATTAGTGAGCAGAATGGCCCAGCAGCTGCTGAATTCATCTAGGCCTCTGTTTCTTTATCTATGGAAATGAACTGATGACACTTCTCAGGACCACTGCTAAGAAAATTTAAAGGACAATGTACAGAAAACCCCCAGGCCCCAGCCTGGCACTTGGGGCCCAGCGTGGCAATGGCTCTAATAACCAATGGAAGGTCCCGTGCGACAGTCACAGCTCACCTA
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Task1_train_16197
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Consider this mutation in CPT1A (carnitine palmitoyltransferase 1A) on Chromosome 11. Is this a benign change or a disease-causing variant?
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Pathogenic; Inborn genetic diseases
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TGAACCGGGGAGGCAGAGGTGGCAGTGAGCTGAAATCGCACCACTGCACACCAGCCTGGGTGACAGAACAAGACGCCATCTCAAAAAAAAAAGTCAAAATTCAAAACATTCACAGAAGTTTAAAGAAAAAAGAAGGTCATACATTATGATGTCTTCACAAGTTTACTACTAATTTCTTTCTTTTTTTTTTGAGATGGAGTCTCACTCTTTCGTCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCAGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGTTCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGGGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCACTACTAATTTCTAATTTCAGACACACAAACCCGGCTCCATGCCCTATCAAGAACAGCGAGGTGCTCAGCCTGCAGCTGGGCCCTGTCTCCCACACACGCCGTGACTTTCAGGTCATTTTATTCCACTTCATTTATTAGGCCAGCAGGAAAATTTAAAACACTGCAAAAAGATGGTCTTTATAGTCAATGTGAATCTCAAAGGGGCTTGTTGCTTTAAAAGAAAAAGATCTCAAGTCTCATCACAACAAGTGACCACAGTATTTTCTGTGTCAAGTCTACGGATGATGATCCTAGAATTTAGCAACTTTAAACAAGAACCTGACCGGTGAGTTAAGGAAACAAAACTTTCATTTAATTTCTCATGCCAAACACGGAACAGGTCAAACAGTTCAGAGTAACGAATTATTAAAAAAAAAAAAAAAAAAAAAAGGCTGAGTGTGGTGGCTCCCATCTGTAATCCCAGCACTTTGGGAGGCCCAGGCAGGCAGATCCCCTGTGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGGGAAACCTTGTTTCTACAAAAAATACAAAAATTAGCTGGGCATGGTGGCACACACCTGTAGTCCCAGCTACTTGGGAGGCTGGGGTGGGAGAATGTCTTGAGCCTGGGCGGTCAAGGCTACAGTGAGCTATGATTGTGCCACTGCACTCCAGTCTGGGTGACAGAGTAAGACCCTGTCTCAAAAAAAAAAAAAAAAACAATGGTAGAGGCCAATCCACAGGTGCAGGCAGGGGGACAGGGGTTTGTGGTTTTCAAATAACCTGGTAATTTTAAGAATTAAAATGATGTCTTAGGTAAAAGACACGCTGCATGTTTATAAACCCAGATTTTCACATGCTTGCTTCTATTTGGCCTAAAAAATGCGGTAGGTAGGAAACACTAGGAAATCCAGCACATAAGGGATAGTTTATTCCAGGAAAAACCGAGCTTCACTTCTGCTGTGAAGCTGCGGCCTGAGAGTCAACTGCCATTTCACTCTTTTGTTCCCTAAGGAGATGGCAGGAGATGCACTGCTGTTCAAGGGACCTAAGTTATGGGAAAGGAAGACAGGGATGCCTTTAATCTAGTGATTTAACTTCATGTGCATTACTAGTACAAGTGAAAAATTCATATTCTATAATCACGCAAATATTACAAAACTAAATTGACTGTGGGGTTTGGATTATCTTTTTTGTTTTTTCTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCCGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGTCTCCCGGGTTCAATCGATTTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGGCTACAGGCATGCACCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGCGCCACTGCGCCTGGCCAGGTTTGGATTTTCAAAAGCAACTTCCACATTCAAGTGAAAAGTGTGAAAACTCACCTCCCAAAGGTGGGCCACGATCGGCGCATCTGCCCAGGAGTGTTCAGCGTTGAGGCCCATCTTCCCGTTTTTGAAGACAACAAACGTGAACGACTTGTCAAACCACCTACGTGAAACACACATGTGTGGAACTTAAGTGTTTAAAGAGGCAACAATGAGGAGACATTGCACCTCTCTGCTTCATCCTGGATGGACTAATTCACTTTGCACCTGTCCCTCTAACAGTGAGCAGACACTCAGTCTCTGTGGAGTGAGGGTGAAAGTACAAACAGGACACTGAATCACTCATTTCTTCCCTGTCCCAGACACAAAGATGAGCGCTTATATCCTGGCAGCCTGAAGTCAGGACCTGTTGTTATCGCAAGGCAACTGGGGAGAGGTGGGAGGCTCTTCCCGTGGGCACATGACCCCTTCATCAGCCAATCCTTGGCTCCACCCTGCAGGGGGCGGGGCTGGCCAACACTTTACAGATAAGAAAAAGAGGACTTGAGATAGCCACATGCCAACACCCTGGCCTAACCCTGTGCCTAGCCCTGTTTGCCACTCTCCCCTGCCTGAGTCCAGGGACCTGGCAGCCCTGCATCTCATGAGCATCTCCAAACAAAGGTGGTCATGCACAGAGGAGGGAAGAATCTCAGATTTGCAGCTCAGGCTGTGTATGTGTGATAGTTTTGGCAGAGGGAAGAAAACTGAAGGTTGGCCAGGCGCAGTGGCTCACATCTGTAATCTCAGCACTTTGAGAGGCTGAGGTGGGTGGATCACTTGAGATCAGGAGTTCATAACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACACGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGGAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCAAGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCATTTCAAAAAATAAAATAAAATAAAACTGAAGGTTATATTTTTATGCCACCTTCTTTCTTAGCATTATAGATACTTAGGGGTGAGTGTCAGGCACACAGGGTATTTCTTCCAAGCTCATGGGCAAACTCCTGTCTCTCAGAAGGTAAGGACGGTACCTGTCGTAACATCGGCCGTGTAGTAGAGATTTGGCGTAGCTGTCCATTGACGTATCCGGGTCTTCACTTCTGTATCCTTCTTCAGTTTCATCTAACGTCACAAAGAACGCTGCTTTCTCCACAGCATCAAGAGACTGCTTATTTTTCCCACGTCCAAAATAGGCCTGACGACACCTGGCCCAGGGAACTCTGCAGTGAAGATGAAATACGATTAAAGGCAGCCCGACCTGCAGCGATGGAGCGTGATGTTTGAAATGACACAATCAAACCTTTGCAGTTTTTCAGAATTTCTCGAAGGAAAACTCCATGTTGATGATGTTCCCCATCTGAGACTGTTTGCTGGAAGGACTCTCACCTGCTCCTGGTCTCCAGACCACAGCATGGGGAGCGGTGGGTATTTTTTGTTCAATAAATGCTGACTAAATGAACGGCCAGATTGCAGGCTGGCCCCGTGGGCAAAGCCGCCAGGAAGCAGCAGACCCAGATCACCCTGTTCCACGCTCCCTGACACACCCTCCCTCCCCTCTACAGGAACCACCCTAGGTAAGTTCCGGCAGCCCAGGTCACAGTAAGTGCGTAAGAGTGCGTCCCTCATGCCAGGCTCTGCTCCAAACCTTTTCTGTGTACCAACTTACTGATCTTCTCAATGCTACTGTACCTATTTTTCAGATGAGAAAACTGAAGCACGGAAAGATTAGGTCACAGCTATTTTGAGGCAGAGTCGGAACCCAGGCCATCAGCCCCCAGGTGCATTCCACAGATGCCCATGTGACCCCTCCACAAGGAGGTCTCCGTGCCCGTCTTATTTGAATACACAGAACTGGTGTGATGCCCACTTCCTTCTTGGAAGACCCACCAGCTGGGCTTCCTCGAGTGCTCCCGGGTCCCTCTCACTCCAGCTCCTCCAGGACCCTCTGCCACTGCCCACCCTTCCAGATC
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TGAACCGGGGAGGCAGAGGTGGCAGTGAGCTGAAATCGCACCACTGCACACCAGCCTGGGTGACAGAACAAGACGCCATCTCAAAAAAAAAAGTCAAAATTCAAAACATTCACAGAAGTTTAAAGAAAAAAGAAGGTCATACATTATGATGTCTTCACAAGTTTACTACTAATTTCTTTCTTTTTTTTTTGAGATGGAGTCTCACTCTTTCGTCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCAGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGTTCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGGGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCACTACTAATTTCTAATTTCAGACACACAAACCCGGCTCCATGCCCTATCAAGAACAGCGAGGTGCTCAGCCTGCAGCTGGGCCCTGTCTCCCACACACGCCGTGACTTTCAGGTCATTTTATTCCACTTCATTTATTAGGCCAGCAGGAAAATTTAAAACACTGCAAAAAGATGGTCTTTATAGTCAATGTGAATCTCAAAGGGGCTTGTTGCTTTAAAAGAAAAAGATCTCAAGTCTCATCACAACAAGTGACCACAGTATTTTCTGTGTCAAGTCTACGGATGATGATCCTAGAATTTAGCAACTTTAAACAAGAACCTGACCGGTGAGTTAAGGAAACAAAACTTTCATTTAATTTCTCATGCCAAACACGGAACAGGTCAAACAGTTCAGAGTAACGAATTATTAAAAAAAAAAAAAAAAAAAAAAGGCTGAGTGTGGTGGCTCCCATCTGTAATCCCAGCACTTTGGGAGGCCCAGGCAGGCAGATCCCCTGTGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGGGAAACCTTGTTTCTACAAAAAATACAAAAATTAGCTGGGCATGGTGGCACACACCTGTAGTCCCAGCTACTTGGGAGGCTGGGGTGGGAGAATGTCTTGAGCCTGGGCGGTCAAGGCTACAGTGAGCTATGATTGTGCCACTGCACTCCAGTCTGGGTGACAGAGTAAGACCCTGTCTCAAAAAAAAAAAAAAAAACAATGGTAGAGGCCAATCCACAGGTGCAGGCAGGGGGACAGGGGTTTGTGGTTTTCAAATAACCTGGTAATTTTAAGAATTAAAATGATGTCTTAGGTAAAAGACACGCTGCATGTTTATAAACCCAGATTTTCACATGCTTGCTTCTATTTGGCCTAAAAAATGCGGTAGGTAGGAAACACTAGGAAATCCAGCACATAAGGGATAGTTTATTCCAGGAAAAACCGAGCTTCACTTCTGCTGTGAAGCTGCGGCCTGAGAGTCAACTGCCATTTCACTCTTTTGTTCCCTAAGGAGATGGCAGGAGATGCACTGCTGTTCAAGGGACCTAAGTTATGGGAAAGGAAGACAGGGATGCCTTTAATCTAGTGATTTAACTTCATGTGCATTACTAGTACAAGTGAAAAATTCATATTCTATAATCACGCAAATATTACAAAACTAAATTGACTGTGGGGTTTGGATTATCTTTTTTGTTTTTTCTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCCGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGTCTCCCGGGTTCAATCGATTTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGGCTACAGGCATGCACCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGCGCCACTGCGCCTGGCCAGGTTTGGATTTTCAAAAGCAACTTCCACATTCAAGTGAAAAGTGTGAAAACTCACCTCCCAAAGGTGGGCCACGATCAGCGCATCTGCCCAGGAGTGTTCAGCGTTGAGGCCCATCTTCCCGTTTTTGAAGACAACAAACGTGAACGACTTGTCAAACCACCTACGTGAAACACACATGTGTGGAACTTAAGTGTTTAAAGAGGCAACAATGAGGAGACATTGCACCTCTCTGCTTCATCCTGGATGGACTAATTCACTTTGCACCTGTCCCTCTAACAGTGAGCAGACACTCAGTCTCTGTGGAGTGAGGGTGAAAGTACAAACAGGACACTGAATCACTCATTTCTTCCCTGTCCCAGACACAAAGATGAGCGCTTATATCCTGGCAGCCTGAAGTCAGGACCTGTTGTTATCGCAAGGCAACTGGGGAGAGGTGGGAGGCTCTTCCCGTGGGCACATGACCCCTTCATCAGCCAATCCTTGGCTCCACCCTGCAGGGGGCGGGGCTGGCCAACACTTTACAGATAAGAAAAAGAGGACTTGAGATAGCCACATGCCAACACCCTGGCCTAACCCTGTGCCTAGCCCTGTTTGCCACTCTCCCCTGCCTGAGTCCAGGGACCTGGCAGCCCTGCATCTCATGAGCATCTCCAAACAAAGGTGGTCATGCACAGAGGAGGGAAGAATCTCAGATTTGCAGCTCAGGCTGTGTATGTGTGATAGTTTTGGCAGAGGGAAGAAAACTGAAGGTTGGCCAGGCGCAGTGGCTCACATCTGTAATCTCAGCACTTTGAGAGGCTGAGGTGGGTGGATCACTTGAGATCAGGAGTTCATAACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACACGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGGAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCAAGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCATTTCAAAAAATAAAATAAAATAAAACTGAAGGTTATATTTTTATGCCACCTTCTTTCTTAGCATTATAGATACTTAGGGGTGAGTGTCAGGCACACAGGGTATTTCTTCCAAGCTCATGGGCAAACTCCTGTCTCTCAGAAGGTAAGGACGGTACCTGTCGTAACATCGGCCGTGTAGTAGAGATTTGGCGTAGCTGTCCATTGACGTATCCGGGTCTTCACTTCTGTATCCTTCTTCAGTTTCATCTAACGTCACAAAGAACGCTGCTTTCTCCACAGCATCAAGAGACTGCTTATTTTTCCCACGTCCAAAATAGGCCTGACGACACCTGGCCCAGGGAACTCTGCAGTGAAGATGAAATACGATTAAAGGCAGCCCGACCTGCAGCGATGGAGCGTGATGTTTGAAATGACACAATCAAACCTTTGCAGTTTTTCAGAATTTCTCGAAGGAAAACTCCATGTTGATGATGTTCCCCATCTGAGACTGTTTGCTGGAAGGACTCTCACCTGCTCCTGGTCTCCAGACCACAGCATGGGGAGCGGTGGGTATTTTTTGTTCAATAAATGCTGACTAAATGAACGGCCAGATTGCAGGCTGGCCCCGTGGGCAAAGCCGCCAGGAAGCAGCAGACCCAGATCACCCTGTTCCACGCTCCCTGACACACCCTCCCTCCCCTCTACAGGAACCACCCTAGGTAAGTTCCGGCAGCCCAGGTCACAGTAAGTGCGTAAGAGTGCGTCCCTCATGCCAGGCTCTGCTCCAAACCTTTTCTGTGTACCAACTTACTGATCTTCTCAATGCTACTGTACCTATTTTTCAGATGAGAAAACTGAAGCACGGAAAGATTAGGTCACAGCTATTTTGAGGCAGAGTCGGAACCCAGGCCATCAGCCCCCAGGTGCATTCCACAGATGCCCATGTGACCCCTCCACAAGGAGGTCTCCGTGCCCGTCTTATTTGAATACACAGAACTGGTGTGATGCCCACTTCCTTCTTGGAAGACCCACCAGCTGGGCTTCCTCGAGTGCTCCCGGGTCCCTCTCACTCCAGCTCCTCCAGGACCCTCTGCCACTGCCCACCCTTCCAGATC
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Task1_train_16198
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Here’s a variant in CPT1A (carnitine palmitoyltransferase 1A) located on Chromosome 11. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Carnitine palmitoyl transferase 1A deficiency
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TGAACCGGGGAGGCAGAGGTGGCAGTGAGCTGAAATCGCACCACTGCACACCAGCCTGGGTGACAGAACAAGACGCCATCTCAAAAAAAAAAGTCAAAATTCAAAACATTCACAGAAGTTTAAAGAAAAAAGAAGGTCATACATTATGATGTCTTCACAAGTTTACTACTAATTTCTTTCTTTTTTTTTTGAGATGGAGTCTCACTCTTTCGTCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCAGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGTTCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGGGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCACTACTAATTTCTAATTTCAGACACACAAACCCGGCTCCATGCCCTATCAAGAACAGCGAGGTGCTCAGCCTGCAGCTGGGCCCTGTCTCCCACACACGCCGTGACTTTCAGGTCATTTTATTCCACTTCATTTATTAGGCCAGCAGGAAAATTTAAAACACTGCAAAAAGATGGTCTTTATAGTCAATGTGAATCTCAAAGGGGCTTGTTGCTTTAAAAGAAAAAGATCTCAAGTCTCATCACAACAAGTGACCACAGTATTTTCTGTGTCAAGTCTACGGATGATGATCCTAGAATTTAGCAACTTTAAACAAGAACCTGACCGGTGAGTTAAGGAAACAAAACTTTCATTTAATTTCTCATGCCAAACACGGAACAGGTCAAACAGTTCAGAGTAACGAATTATTAAAAAAAAAAAAAAAAAAAAAAGGCTGAGTGTGGTGGCTCCCATCTGTAATCCCAGCACTTTGGGAGGCCCAGGCAGGCAGATCCCCTGTGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGGGAAACCTTGTTTCTACAAAAAATACAAAAATTAGCTGGGCATGGTGGCACACACCTGTAGTCCCAGCTACTTGGGAGGCTGGGGTGGGAGAATGTCTTGAGCCTGGGCGGTCAAGGCTACAGTGAGCTATGATTGTGCCACTGCACTCCAGTCTGGGTGACAGAGTAAGACCCTGTCTCAAAAAAAAAAAAAAAAACAATGGTAGAGGCCAATCCACAGGTGCAGGCAGGGGGACAGGGGTTTGTGGTTTTCAAATAACCTGGTAATTTTAAGAATTAAAATGATGTCTTAGGTAAAAGACACGCTGCATGTTTATAAACCCAGATTTTCACATGCTTGCTTCTATTTGGCCTAAAAAATGCGGTAGGTAGGAAACACTAGGAAATCCAGCACATAAGGGATAGTTTATTCCAGGAAAAACCGAGCTTCACTTCTGCTGTGAAGCTGCGGCCTGAGAGTCAACTGCCATTTCACTCTTTTGTTCCCTAAGGAGATGGCAGGAGATGCACTGCTGTTCAAGGGACCTAAGTTATGGGAAAGGAAGACAGGGATGCCTTTAATCTAGTGATTTAACTTCATGTGCATTACTAGTACAAGTGAAAAATTCATATTCTATAATCACGCAAATATTACAAAACTAAATTGACTGTGGGGTTTGGATTATCTTTTTTGTTTTTTCTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCCGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGTCTCCCGGGTTCAATCGATTTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGGCTACAGGCATGCACCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGCGCCACTGCGCCTGGCCAGGTTTGGATTTTCAAAAGCAACTTCCACATTCAAGTGAAAAGTGTGAAAACTCACCTCCCAAAGGTGGGCCACGATCGGCGCATCTGCCCAGGAGTGTTCAGCGTTGAGGCCCATCTTCCCGTTTTTGAAGACAACAAACGTGAACGACTTGTCAAACCACCTACGTGAAACACACATGTGTGGAACTTAAGTGTTTAAAGAGGCAACAATGAGGAGACATTGCACCTCTCTGCTTCATCCTGGATGGACTAATTCACTTTGCACCTGTCCCTCTAACAGTGAGCAGACACTCAGTCTCTGTGGAGTGAGGGTGAAAGTACAAACAGGACACTGAATCACTCATTTCTTCCCTGTCCCAGACACAAAGATGAGCGCTTATATCCTGGCAGCCTGAAGTCAGGACCTGTTGTTATCGCAAGGCAACTGGGGAGAGGTGGGAGGCTCTTCCCGTGGGCACATGACCCCTTCATCAGCCAATCCTTGGCTCCACCCTGCAGGGGGCGGGGCTGGCCAACACTTTACAGATAAGAAAAAGAGGACTTGAGATAGCCACATGCCAACACCCTGGCCTAACCCTGTGCCTAGCCCTGTTTGCCACTCTCCCCTGCCTGAGTCCAGGGACCTGGCAGCCCTGCATCTCATGAGCATCTCCAAACAAAGGTGGTCATGCACAGAGGAGGGAAGAATCTCAGATTTGCAGCTCAGGCTGTGTATGTGTGATAGTTTTGGCAGAGGGAAGAAAACTGAAGGTTGGCCAGGCGCAGTGGCTCACATCTGTAATCTCAGCACTTTGAGAGGCTGAGGTGGGTGGATCACTTGAGATCAGGAGTTCATAACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACACGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGGAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCAAGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCATTTCAAAAAATAAAATAAAATAAAACTGAAGGTTATATTTTTATGCCACCTTCTTTCTTAGCATTATAGATACTTAGGGGTGAGTGTCAGGCACACAGGGTATTTCTTCCAAGCTCATGGGCAAACTCCTGTCTCTCAGAAGGTAAGGACGGTACCTGTCGTAACATCGGCCGTGTAGTAGAGATTTGGCGTAGCTGTCCATTGACGTATCCGGGTCTTCACTTCTGTATCCTTCTTCAGTTTCATCTAACGTCACAAAGAACGCTGCTTTCTCCACAGCATCAAGAGACTGCTTATTTTTCCCACGTCCAAAATAGGCCTGACGACACCTGGCCCAGGGAACTCTGCAGTGAAGATGAAATACGATTAAAGGCAGCCCGACCTGCAGCGATGGAGCGTGATGTTTGAAATGACACAATCAAACCTTTGCAGTTTTTCAGAATTTCTCGAAGGAAAACTCCATGTTGATGATGTTCCCCATCTGAGACTGTTTGCTGGAAGGACTCTCACCTGCTCCTGGTCTCCAGACCACAGCATGGGGAGCGGTGGGTATTTTTTGTTCAATAAATGCTGACTAAATGAACGGCCAGATTGCAGGCTGGCCCCGTGGGCAAAGCCGCCAGGAAGCAGCAGACCCAGATCACCCTGTTCCACGCTCCCTGACACACCCTCCCTCCCCTCTACAGGAACCACCCTAGGTAAGTTCCGGCAGCCCAGGTCACAGTAAGTGCGTAAGAGTGCGTCCCTCATGCCAGGCTCTGCTCCAAACCTTTTCTGTGTACCAACTTACTGATCTTCTCAATGCTACTGTACCTATTTTTCAGATGAGAAAACTGAAGCACGGAAAGATTAGGTCACAGCTATTTTGAGGCAGAGTCGGAACCCAGGCCATCAGCCCCCAGGTGCATTCCACAGATGCCCATGTGACCCCTCCACAAGGAGGTCTCCGTGCCCGTCTTATTTGAATACACAGAACTGGTGTGATGCCCACTTCCTTCTTGGAAGACCCACCAGCTGGGCTTCCTCGAGTGCTCCCGGGTCCCTCTCACTCCAGCTCCTCCAGGACCCTCTGCCACTGCCCACCCTTCCAGATC
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TGAACCGGGGAGGCAGAGGTGGCAGTGAGCTGAAATCGCACCACTGCACACCAGCCTGGGTGACAGAACAAGACGCCATCTCAAAAAAAAAAGTCAAAATTCAAAACATTCACAGAAGTTTAAAGAAAAAAGAAGGTCATACATTATGATGTCTTCACAAGTTTACTACTAATTTCTTTCTTTTTTTTTTGAGATGGAGTCTCACTCTTTCGTCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCAGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGTTCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGGGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCACTACTAATTTCTAATTTCAGACACACAAACCCGGCTCCATGCCCTATCAAGAACAGCGAGGTGCTCAGCCTGCAGCTGGGCCCTGTCTCCCACACACGCCGTGACTTTCAGGTCATTTTATTCCACTTCATTTATTAGGCCAGCAGGAAAATTTAAAACACTGCAAAAAGATGGTCTTTATAGTCAATGTGAATCTCAAAGGGGCTTGTTGCTTTAAAAGAAAAAGATCTCAAGTCTCATCACAACAAGTGACCACAGTATTTTCTGTGTCAAGTCTACGGATGATGATCCTAGAATTTAGCAACTTTAAACAAGAACCTGACCGGTGAGTTAAGGAAACAAAACTTTCATTTAATTTCTCATGCCAAACACGGAACAGGTCAAACAGTTCAGAGTAACGAATTATTAAAAAAAAAAAAAAAAAAAAAAGGCTGAGTGTGGTGGCTCCCATCTGTAATCCCAGCACTTTGGGAGGCCCAGGCAGGCAGATCCCCTGTGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGGGAAACCTTGTTTCTACAAAAAATACAAAAATTAGCTGGGCATGGTGGCACACACCTGTAGTCCCAGCTACTTGGGAGGCTGGGGTGGGAGAATGTCTTGAGCCTGGGCGGTCAAGGCTACAGTGAGCTATGATTGTGCCACTGCACTCCAGTCTGGGTGACAGAGTAAGACCCTGTCTCAAAAAAAAAAAAAAAAACAATGGTAGAGGCCAATCCACAGGTGCAGGCAGGGGGACAGGGGTTTGTGGTTTTCAAATAACCTGGTAATTTTAAGAATTAAAATGATGTCTTAGGTAAAAGACACGCTGCATGTTTATAAACCCAGATTTTCACATGCTTGCTTCTATTTGGCCTAAAAAATGCGGTAGGTAGGAAACACTAGGAAATCCAGCACATAAGGGATAGTTTATTCCAGGAAAAACCGAGCTTCACTTCTGCTGTGAAGCTGCGGCCTGAGAGTCAACTGCCATTTCACTCTTTTGTTCCCTAAGGAGATGGCAGGAGATGCACTGCTGTTCAAGGGACCTAAGTTATGGGAAAGGAAGACAGGGATGCCTTTAATCTAGTGATTTAACTTCATGTGCATTACTAGTACAAGTGAAAAATTCATATTCTATAATCACGCAAATATTACAAAACTAAATTGACTGTGGGGTTTGGATTATCTTTTTTGTTTTTTCTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCCGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGTCTCCCGGGTTCAATCGATTTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGGCTACAGGCATGCACCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGCGCCACTGCGCCTGGCCAGGTTTGGATTTTCAAAAGCAACTTCCACATTCAAGTGAAAAGTGTGAAAACTCACCTCCCAAAGGTGGGCCACGATCAGCGCATCTGCCCAGGAGTGTTCAGCGTTGAGGCCCATCTTCCCGTTTTTGAAGACAACAAACGTGAACGACTTGTCAAACCACCTACGTGAAACACACATGTGTGGAACTTAAGTGTTTAAAGAGGCAACAATGAGGAGACATTGCACCTCTCTGCTTCATCCTGGATGGACTAATTCACTTTGCACCTGTCCCTCTAACAGTGAGCAGACACTCAGTCTCTGTGGAGTGAGGGTGAAAGTACAAACAGGACACTGAATCACTCATTTCTTCCCTGTCCCAGACACAAAGATGAGCGCTTATATCCTGGCAGCCTGAAGTCAGGACCTGTTGTTATCGCAAGGCAACTGGGGAGAGGTGGGAGGCTCTTCCCGTGGGCACATGACCCCTTCATCAGCCAATCCTTGGCTCCACCCTGCAGGGGGCGGGGCTGGCCAACACTTTACAGATAAGAAAAAGAGGACTTGAGATAGCCACATGCCAACACCCTGGCCTAACCCTGTGCCTAGCCCTGTTTGCCACTCTCCCCTGCCTGAGTCCAGGGACCTGGCAGCCCTGCATCTCATGAGCATCTCCAAACAAAGGTGGTCATGCACAGAGGAGGGAAGAATCTCAGATTTGCAGCTCAGGCTGTGTATGTGTGATAGTTTTGGCAGAGGGAAGAAAACTGAAGGTTGGCCAGGCGCAGTGGCTCACATCTGTAATCTCAGCACTTTGAGAGGCTGAGGTGGGTGGATCACTTGAGATCAGGAGTTCATAACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACACGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGGAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCAAGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCATTTCAAAAAATAAAATAAAATAAAACTGAAGGTTATATTTTTATGCCACCTTCTTTCTTAGCATTATAGATACTTAGGGGTGAGTGTCAGGCACACAGGGTATTTCTTCCAAGCTCATGGGCAAACTCCTGTCTCTCAGAAGGTAAGGACGGTACCTGTCGTAACATCGGCCGTGTAGTAGAGATTTGGCGTAGCTGTCCATTGACGTATCCGGGTCTTCACTTCTGTATCCTTCTTCAGTTTCATCTAACGTCACAAAGAACGCTGCTTTCTCCACAGCATCAAGAGACTGCTTATTTTTCCCACGTCCAAAATAGGCCTGACGACACCTGGCCCAGGGAACTCTGCAGTGAAGATGAAATACGATTAAAGGCAGCCCGACCTGCAGCGATGGAGCGTGATGTTTGAAATGACACAATCAAACCTTTGCAGTTTTTCAGAATTTCTCGAAGGAAAACTCCATGTTGATGATGTTCCCCATCTGAGACTGTTTGCTGGAAGGACTCTCACCTGCTCCTGGTCTCCAGACCACAGCATGGGGAGCGGTGGGTATTTTTTGTTCAATAAATGCTGACTAAATGAACGGCCAGATTGCAGGCTGGCCCCGTGGGCAAAGCCGCCAGGAAGCAGCAGACCCAGATCACCCTGTTCCACGCTCCCTGACACACCCTCCCTCCCCTCTACAGGAACCACCCTAGGTAAGTTCCGGCAGCCCAGGTCACAGTAAGTGCGTAAGAGTGCGTCCCTCATGCCAGGCTCTGCTCCAAACCTTTTCTGTGTACCAACTTACTGATCTTCTCAATGCTACTGTACCTATTTTTCAGATGAGAAAACTGAAGCACGGAAAGATTAGGTCACAGCTATTTTGAGGCAGAGTCGGAACCCAGGCCATCAGCCCCCAGGTGCATTCCACAGATGCCCATGTGACCCCTCCACAAGGAGGTCTCCGTGCCCGTCTTATTTGAATACACAGAACTGGTGTGATGCCCACTTCCTTCTTGGAAGACCCACCAGCTGGGCTTCCTCGAGTGCTCCCGGGTCCCTCTCACTCCAGCTCCTCCAGGACCCTCTGCCACTGCCCACCCTTCCAGATC
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Task1_train_16199
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This sequence change occurs on Chromosome 11, altering CPT1A (carnitine palmitoyltransferase 1A). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Carnitine palmitoyl transferase 1A deficiency
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CCATCTCAAAAAAAAAAGTCAAAATTCAAAACATTCACAGAAGTTTAAAGAAAAAAGAAGGTCATACATTATGATGTCTTCACAAGTTTACTACTAATTTCTTTCTTTTTTTTTTGAGATGGAGTCTCACTCTTTCGTCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCAGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGTTCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGGGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCACTACTAATTTCTAATTTCAGACACACAAACCCGGCTCCATGCCCTATCAAGAACAGCGAGGTGCTCAGCCTGCAGCTGGGCCCTGTCTCCCACACACGCCGTGACTTTCAGGTCATTTTATTCCACTTCATTTATTAGGCCAGCAGGAAAATTTAAAACACTGCAAAAAGATGGTCTTTATAGTCAATGTGAATCTCAAAGGGGCTTGTTGCTTTAAAAGAAAAAGATCTCAAGTCTCATCACAACAAGTGACCACAGTATTTTCTGTGTCAAGTCTACGGATGATGATCCTAGAATTTAGCAACTTTAAACAAGAACCTGACCGGTGAGTTAAGGAAACAAAACTTTCATTTAATTTCTCATGCCAAACACGGAACAGGTCAAACAGTTCAGAGTAACGAATTATTAAAAAAAAAAAAAAAAAAAAAAGGCTGAGTGTGGTGGCTCCCATCTGTAATCCCAGCACTTTGGGAGGCCCAGGCAGGCAGATCCCCTGTGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGGGAAACCTTGTTTCTACAAAAAATACAAAAATTAGCTGGGCATGGTGGCACACACCTGTAGTCCCAGCTACTTGGGAGGCTGGGGTGGGAGAATGTCTTGAGCCTGGGCGGTCAAGGCTACAGTGAGCTATGATTGTGCCACTGCACTCCAGTCTGGGTGACAGAGTAAGACCCTGTCTCAAAAAAAAAAAAAAAAACAATGGTAGAGGCCAATCCACAGGTGCAGGCAGGGGGACAGGGGTTTGTGGTTTTCAAATAACCTGGTAATTTTAAGAATTAAAATGATGTCTTAGGTAAAAGACACGCTGCATGTTTATAAACCCAGATTTTCACATGCTTGCTTCTATTTGGCCTAAAAAATGCGGTAGGTAGGAAACACTAGGAAATCCAGCACATAAGGGATAGTTTATTCCAGGAAAAACCGAGCTTCACTTCTGCTGTGAAGCTGCGGCCTGAGAGTCAACTGCCATTTCACTCTTTTGTTCCCTAAGGAGATGGCAGGAGATGCACTGCTGTTCAAGGGACCTAAGTTATGGGAAAGGAAGACAGGGATGCCTTTAATCTAGTGATTTAACTTCATGTGCATTACTAGTACAAGTGAAAAATTCATATTCTATAATCACGCAAATATTACAAAACTAAATTGACTGTGGGGTTTGGATTATCTTTTTTGTTTTTTCTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCCGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGTCTCCCGGGTTCAATCGATTTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGGCTACAGGCATGCACCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGCGCCACTGCGCCTGGCCAGGTTTGGATTTTCAAAAGCAACTTCCACATTCAAGTGAAAAGTGTGAAAACTCACCTCCCAAAGGTGGGCCACGATCGGCGCATCTGCCCAGGAGTGTTCAGCGTTGAGGCCCATCTTCCCGTTTTTGAAGACAACAAACGTGAACGACTTGTCAAACCACCTACGTGAAACACACATGTGTGGAACTTAAGTGTTTAAAGAGGCAACAATGAGGAGACATTGCACCTCTCTGCTTCATCCTGGATGGACTAATTCACTTTGCACCTGTCCCTCTAACAGTGAGCAGACACTCAGTCTCTGTGGAGTGAGGGTGAAAGTACAAACAGGACACTGAATCACTCATTTCTTCCCTGTCCCAGACACAAAGATGAGCGCTTATATCCTGGCAGCCTGAAGTCAGGACCTGTTGTTATCGCAAGGCAACTGGGGAGAGGTGGGAGGCTCTTCCCGTGGGCACATGACCCCTTCATCAGCCAATCCTTGGCTCCACCCTGCAGGGGGCGGGGCTGGCCAACACTTTACAGATAAGAAAAAGAGGACTTGAGATAGCCACATGCCAACACCCTGGCCTAACCCTGTGCCTAGCCCTGTTTGCCACTCTCCCCTGCCTGAGTCCAGGGACCTGGCAGCCCTGCATCTCATGAGCATCTCCAAACAAAGGTGGTCATGCACAGAGGAGGGAAGAATCTCAGATTTGCAGCTCAGGCTGTGTATGTGTGATAGTTTTGGCAGAGGGAAGAAAACTGAAGGTTGGCCAGGCGCAGTGGCTCACATCTGTAATCTCAGCACTTTGAGAGGCTGAGGTGGGTGGATCACTTGAGATCAGGAGTTCATAACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACACGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGGAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCAAGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCATTTCAAAAAATAAAATAAAATAAAACTGAAGGTTATATTTTTATGCCACCTTCTTTCTTAGCATTATAGATACTTAGGGGTGAGTGTCAGGCACACAGGGTATTTCTTCCAAGCTCATGGGCAAACTCCTGTCTCTCAGAAGGTAAGGACGGTACCTGTCGTAACATCGGCCGTGTAGTAGAGATTTGGCGTAGCTGTCCATTGACGTATCCGGGTCTTCACTTCTGTATCCTTCTTCAGTTTCATCTAACGTCACAAAGAACGCTGCTTTCTCCACAGCATCAAGAGACTGCTTATTTTTCCCACGTCCAAAATAGGCCTGACGACACCTGGCCCAGGGAACTCTGCAGTGAAGATGAAATACGATTAAAGGCAGCCCGACCTGCAGCGATGGAGCGTGATGTTTGAAATGACACAATCAAACCTTTGCAGTTTTTCAGAATTTCTCGAAGGAAAACTCCATGTTGATGATGTTCCCCATCTGAGACTGTTTGCTGGAAGGACTCTCACCTGCTCCTGGTCTCCAGACCACAGCATGGGGAGCGGTGGGTATTTTTTGTTCAATAAATGCTGACTAAATGAACGGCCAGATTGCAGGCTGGCCCCGTGGGCAAAGCCGCCAGGAAGCAGCAGACCCAGATCACCCTGTTCCACGCTCCCTGACACACCCTCCCTCCCCTCTACAGGAACCACCCTAGGTAAGTTCCGGCAGCCCAGGTCACAGTAAGTGCGTAAGAGTGCGTCCCTCATGCCAGGCTCTGCTCCAAACCTTTTCTGTGTACCAACTTACTGATCTTCTCAATGCTACTGTACCTATTTTTCAGATGAGAAAACTGAAGCACGGAAAGATTAGGTCACAGCTATTTTGAGGCAGAGTCGGAACCCAGGCCATCAGCCCCCAGGTGCATTCCACAGATGCCCATGTGACCCCTCCACAAGGAGGTCTCCGTGCCCGTCTTATTTGAATACACAGAACTGGTGTGATGCCCACTTCCTTCTTGGAAGACCCACCAGCTGGGCTTCCTCGAGTGCTCCCGGGTCCCTCTCACTCCAGCTCCTCCAGGACCCTCTGCCACTGCCCACCCTTCCAGATCGGGGCCATCTGGCTCTCTCCCCACCTTCTTCTCTCTAGGAGTGCTTGGCTATGGCGGCCCGCAGGGCGAATAAGC
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CCATCTCAAAAAAAAAAGTCAAAATTCAAAACATTCACAGAAGTTTAAAGAAAAAAGAAGGTCATACATTATGATGTCTTCACAAGTTTACTACTAATTTCTTTCTTTTTTTTTTGAGATGGAGTCTCACTCTTTCGTCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCAGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGTTCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGGGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCACTACTAATTTCTAATTTCAGACACACAAACCCGGCTCCATGCCCTATCAAGAACAGCGAGGTGCTCAGCCTGCAGCTGGGCCCTGTCTCCCACACACGCCGTGACTTTCAGGTCATTTTATTCCACTTCATTTATTAGGCCAGCAGGAAAATTTAAAACACTGCAAAAAGATGGTCTTTATAGTCAATGTGAATCTCAAAGGGGCTTGTTGCTTTAAAAGAAAAAGATCTCAAGTCTCATCACAACAAGTGACCACAGTATTTTCTGTGTCAAGTCTACGGATGATGATCCTAGAATTTAGCAACTTTAAACAAGAACCTGACCGGTGAGTTAAGGAAACAAAACTTTCATTTAATTTCTCATGCCAAACACGGAACAGGTCAAACAGTTCAGAGTAACGAATTATTAAAAAAAAAAAAAAAAAAAAAAGGCTGAGTGTGGTGGCTCCCATCTGTAATCCCAGCACTTTGGGAGGCCCAGGCAGGCAGATCCCCTGTGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGGGAAACCTTGTTTCTACAAAAAATACAAAAATTAGCTGGGCATGGTGGCACACACCTGTAGTCCCAGCTACTTGGGAGGCTGGGGTGGGAGAATGTCTTGAGCCTGGGCGGTCAAGGCTACAGTGAGCTATGATTGTGCCACTGCACTCCAGTCTGGGTGACAGAGTAAGACCCTGTCTCAAAAAAAAAAAAAAAAACAATGGTAGAGGCCAATCCACAGGTGCAGGCAGGGGGACAGGGGTTTGTGGTTTTCAAATAACCTGGTAATTTTAAGAATTAAAATGATGTCTTAGGTAAAAGACACGCTGCATGTTTATAAACCCAGATTTTCACATGCTTGCTTCTATTTGGCCTAAAAAATGCGGTAGGTAGGAAACACTAGGAAATCCAGCACATAAGGGATAGTTTATTCCAGGAAAAACCGAGCTTCACTTCTGCTGTGAAGCTGCGGCCTGAGAGTCAACTGCCATTTCACTCTTTTGTTCCCTAAGGAGATGGCAGGAGATGCACTGCTGTTCAAGGGACCTAAGTTATGGGAAAGGAAGACAGGGATGCCTTTAATCTAGTGATTTAACTTCATGTGCATTACTAGTACAAGTGAAAAATTCATATTCTATAATCACGCAAATATTACAAAACTAAATTGACTGTGGGGTTTGGATTATCTTTTTTGTTTTTTCTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCCGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGTCTCCCGGGTTCAATCGATTTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGGCTACAGGCATGCACCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGCGCCACTGCGCCTGGCCAGGTTTGGATTTTCAAAAGCAACTTCCACATTCAAGTGAAAAGTGTGAAAACTCACCTCCCAAAGGTGGGCCACGATCGGCGCATCTGCCCAGGAGTGTTCAGCGTTGAGGCCCATCTTCCCGTTTTTGAAGACAACAAACGTGAACGACTTGCCAAACCACCTACGTGAAACACACATGTGTGGAACTTAAGTGTTTAAAGAGGCAACAATGAGGAGACATTGCACCTCTCTGCTTCATCCTGGATGGACTAATTCACTTTGCACCTGTCCCTCTAACAGTGAGCAGACACTCAGTCTCTGTGGAGTGAGGGTGAAAGTACAAACAGGACACTGAATCACTCATTTCTTCCCTGTCCCAGACACAAAGATGAGCGCTTATATCCTGGCAGCCTGAAGTCAGGACCTGTTGTTATCGCAAGGCAACTGGGGAGAGGTGGGAGGCTCTTCCCGTGGGCACATGACCCCTTCATCAGCCAATCCTTGGCTCCACCCTGCAGGGGGCGGGGCTGGCCAACACTTTACAGATAAGAAAAAGAGGACTTGAGATAGCCACATGCCAACACCCTGGCCTAACCCTGTGCCTAGCCCTGTTTGCCACTCTCCCCTGCCTGAGTCCAGGGACCTGGCAGCCCTGCATCTCATGAGCATCTCCAAACAAAGGTGGTCATGCACAGAGGAGGGAAGAATCTCAGATTTGCAGCTCAGGCTGTGTATGTGTGATAGTTTTGGCAGAGGGAAGAAAACTGAAGGTTGGCCAGGCGCAGTGGCTCACATCTGTAATCTCAGCACTTTGAGAGGCTGAGGTGGGTGGATCACTTGAGATCAGGAGTTCATAACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACACGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGGAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCAAGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCATTTCAAAAAATAAAATAAAATAAAACTGAAGGTTATATTTTTATGCCACCTTCTTTCTTAGCATTATAGATACTTAGGGGTGAGTGTCAGGCACACAGGGTATTTCTTCCAAGCTCATGGGCAAACTCCTGTCTCTCAGAAGGTAAGGACGGTACCTGTCGTAACATCGGCCGTGTAGTAGAGATTTGGCGTAGCTGTCCATTGACGTATCCGGGTCTTCACTTCTGTATCCTTCTTCAGTTTCATCTAACGTCACAAAGAACGCTGCTTTCTCCACAGCATCAAGAGACTGCTTATTTTTCCCACGTCCAAAATAGGCCTGACGACACCTGGCCCAGGGAACTCTGCAGTGAAGATGAAATACGATTAAAGGCAGCCCGACCTGCAGCGATGGAGCGTGATGTTTGAAATGACACAATCAAACCTTTGCAGTTTTTCAGAATTTCTCGAAGGAAAACTCCATGTTGATGATGTTCCCCATCTGAGACTGTTTGCTGGAAGGACTCTCACCTGCTCCTGGTCTCCAGACCACAGCATGGGGAGCGGTGGGTATTTTTTGTTCAATAAATGCTGACTAAATGAACGGCCAGATTGCAGGCTGGCCCCGTGGGCAAAGCCGCCAGGAAGCAGCAGACCCAGATCACCCTGTTCCACGCTCCCTGACACACCCTCCCTCCCCTCTACAGGAACCACCCTAGGTAAGTTCCGGCAGCCCAGGTCACAGTAAGTGCGTAAGAGTGCGTCCCTCATGCCAGGCTCTGCTCCAAACCTTTTCTGTGTACCAACTTACTGATCTTCTCAATGCTACTGTACCTATTTTTCAGATGAGAAAACTGAAGCACGGAAAGATTAGGTCACAGCTATTTTGAGGCAGAGTCGGAACCCAGGCCATCAGCCCCCAGGTGCATTCCACAGATGCCCATGTGACCCCTCCACAAGGAGGTCTCCGTGCCCGTCTTATTTGAATACACAGAACTGGTGTGATGCCCACTTCCTTCTTGGAAGACCCACCAGCTGGGCTTCCTCGAGTGCTCCCGGGTCCCTCTCACTCCAGCTCCTCCAGGACCCTCTGCCACTGCCCACCCTTCCAGATCGGGGCCATCTGGCTCTCTCCCCACCTTCTTCTCTCTAGGAGTGCTTGGCTATGGCGGCCCGCAGGGCGAATAAGC
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Subsets and Splits
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