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_16200
|
A mutation found in CPT1A (carnitine palmitoyltransferase 1A) on Chromosome 11 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
|
Pathogenic; Carnitine palmitoyl transferase 1A deficiency
|
ACGTACGGAGCCCTTCCTGTGAATGACTCCCATGGGTAAGATGCTGATCTGGCCCTATCCAGAGGGGGCATCGGGACCGAGGCGCCTACAGACCCACAGGGAGCCCAGGCCCCGCGGCGCCGGCTCAGGCTCCCCACGTCTCCTCCGCTGGGGATTCCAGGCTCTGAGAGGAGGGCATCGGATGAGCGCATCTTCACCCGAGATGCATCTCCTGCCGCCGCTCTTTCCAGCCTTGTCAACACCACAGCAGATACCGAACAACGCCGGCTTGCCCGCACACATCCTCCTCCATCCCGCTCCTGCTCCCAGGCCTGGCCCTCTTTCAGGCCCTCACTACTTGGGCCACCGAAAAGCATCCCTGTGTCCAGGGCCCCTCCTCCCTGCCCAACCAGAAGAATCTCCCACATTAACCTACTCATGCACCCCCGGCCCCACCCCACCCTACACCACCTGAAGCGGCACCCAGTTGCAGAATCAAGCTCAAATATGATTGGGTGCCTGGGACCCTCCCCAGCTTGGCACCGTGGCCCAGCTGCCCAGCCCACTCCACGGCTCCTGCCTGCTCTGCTACCCCGGGGCATGCGGCTCCACCCCCTGGACACCCACTGTCCTCCTGGTCTGCTCCCACCCTCTGCAAGACACAGCCCACCTGCGGCCCCTCCACGCAGCACAGAACCTCTCCTGATCTTTGCAGAAGGGGCCCCAACACCTGCCCCTCCCGCCTTACTCCCAGCGATAGCGTAGCAGTTGTCACACTGCTGGAACGCAGCAGCTCTCAGCTGGGGACAACAGTGTCCCCCTGATGCTGGGCAATGTCTGCGACACTTCTGGTTGTCACACAGGTTGCTGCTGGCAGTCGGTGGGCAGAGGCCAGGGCTGCTGCTCAGCATCCAACGCTACACAGGGCAGTGCCCCCCACAAAGAGGTACCCGGCCCTGAGTGTGCACAGCTCTGAGGTGAGAAACCCTCCTATACAATACACACCACACCTGCGAGAAAACCAAGCTCGGGCTGATTCGCTTTCTTTTTTATGTTTTGAGACACAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGCCTTGATCATGGCTTACTGCAACCTCAACTTCCTGGGCTCAAGCAATCCTCCTGCCTTAGCCTCCTGAATAGCTTGGACTACAGGCACGCACCACCAAGCCTGGCTAATTTTTTGGTAGAGATGGGGTCTCACTCTGTTGCCCAGGCACATCTCAAACCCCTAGGCTCAAGTGACCCTCCTGCCTTGGTCTCCTAAAGCAATGGAATTATAGGCGTGAGCCACTGCGCCCGGCCTGATTCTTTTTCACTGAGGCAAGGAAATGTAACCCTAACACAGGGGCCTTGGTTTCCATTTGTTCTGTTTCCTAAATTAATAAATATGCCCACAGCCCCGTAAGAAAGGCTAATCCTGGCCAGGCATATGGTTCATGCCTGTAATCCCAGAACTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAGGCATGGTGGCGCACTCCCAGCTACTGGAGAGGTTGAGGCAGGAGAACTGCTTGAACCTGGGAGGCGGAGGTTGCTGTGAGCTGAGACAGTGCCATTGCATTCCAGCCTGGGTGACAGAGCGAGACTTCGTCTCAAAAAAAAAAAGCCTAATTCTAATCCTCACTTCTCCCTGTCCTGGACTCTGGAGTGTTTCCACACACATTTGCCTGACACACACACAGGGGTGGCCAGGGACCCCCCACCATGTCCCCATTGCTCTTGAGACCTGCCAAGCCGGGAGACCCCAGAGAAAAACAGAGCCGAGGTGGGGAGTCCCGTGCCAGGATTCCCACAGGCCCTGGTGGGGATGGGCCCCAGTGAGGAAGAGCGCCTCCACCACCCCCCAAAACAGGACAAGGGACCTAGGCTGCGCACCTGTCTCCTGCGGTGAGGGCTGCCAGCCTGGCCTCCCCGGGCTGAGGCTCCGAGGTATTGTCCAGGATCCTCTGCATCTGCTGCTCCATCTCCCGGGGCTTCAGCAGCCGCCCATCATGGTAGAGCCAGACCTTGAAGTAGCGTCCTCGATGGTACACGACGATGTGCTTGCTGTCTCTCATGTGCTGGATGGTGTCTGAGCCGGCCGCAGGTTGGAGACACAAAACCAAGAGTCCCAAGTTCAGCACGTGCTGAGACGACCGTACCCTGACTCTGCAAAGGGCATGGGAGTCCCTGCTCTGCGTCTCTCCAGGCAGCCTCAGGAACCTATTCCTCAAGACGTTTTAAATGATTAAGGACAGCTTGGAGTTAAAGCTCTGGATCGGAGAGGCCTGACTTCTGAGCTCAGCTTAGTCACTCATTAGATTATGACCTCAAACAAATTACCCGAGGCCAGGCGCAGTGGGAGGCTGGGAGTGGTGGCTCACGCCTGTAATCCCAGCACATTGGGTGAGGTGAGAGGATCGTTTGAGGTCAGGAGTTCGAGACCAGCCTGGTCAACATGGTGAAATCTTGCCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGACATGCACCTCTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAAACCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACCCCACTGCACTCCAGCCTGGGTAACAGAGTGATACTCCATCTCAGGAAAAAAAAAAAAAAAAAGCATGCTTAGCAAAATGGAATATTATCATTAAAAAAAAAAAAACAAATTACCCAACCCTCCCTAAGCCTCTCCTCAGTAAAATGGAGGTCATATGTTCCCCATATGCACTGTGCAAGAATTAAGAGACGATATCCGTAAAGCCCATGTAAATAGGCATTCGATCCGTATAGTAACTTTTTATTAATTAATGACAATAGGGCAACTTAGAAAATATGCTGAGAAACATTCCGATAATTGTTTCTGAGAACCCGAGAAATGTTCTGAGAAAGAAAGTGGAAAATTACGAAACCAAGCCATTCCGTAAAAACTACTAAAACAGAGTAATTTAAGCTCCTCAGTAAGCTTAAACATCACAGAAATGTGATGAAGTACGTTCACTCCACGAATATTTATCAAGTCCTCTTAAGCACTGCTCAGTGGGGATGCACAGTGACAGCTGATCAAGGCAGATCGTCTAGTGAGGAAGACAAATAAATGCATGATTAAAAATAGGACAAGCTACCAGGAGCAGTGGCTCACCCTGTATTCCCAGCACTTCAGGAGGCCAAGGAGGGAGGATTGCTTGAGCCCAGGAGTTTGGGATCAGCCTGGGCAACATGGCAAAACCCTATCTCTACAAAAAATACAAAAATTAGCTGGGTGTGGTGGTGTGCACCTGTAGTCCCAGTTATTCTGGAGCTGAGATGGGAGGATCACTTGAGCCTGGGGAGCAGAGGCTGCAGTGAACTGAAATTGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGATCCTATCTCAAACAAACAAACAAAAACAAAATAGGACAAGTGTCACAAAAGGCTAGAAAGTGTAGGACTAGGACCAACCTAGCCTGGAGATGTGAGAAAGCCCTTCCACCCCCACTAAGGAAGTGATGTTTAAGAAGAACCCGGCCAGATGAAGAACAGAATTAATCAATATTATGCCCGATCTCATGTTTTTTTTGAGACGGAGTCTCGCTCTTATTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCTTCTCCTGCCTCAGCTTCCTAAGTAGGTGGCATTACAGGCACCTGCCACCACACCTGGCTAATTTTTGTACTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGACACTGCACCTGGCCTCCTGCTCTGATTTTTAAAATGTTTACCAAACCAAGGATGCAGGAGACCTGCTTTGGTTTGCTGAAGGGTTCCTACCAGAAACTTGGACCAAACGGCATTTGAAGCCTTCGCTTTAAA
|
ACGTACGGAGCCCTTCCTGTGAATGACTCCCATGGGTAAGATGCTGATCTGGCCCTATCCAGAGGGGGCATCGGGACCGAGGCGCCTACAGACCCACAGGGAGCCCAGGCCCCGCGGCGCCGGCTCAGGCTCCCCACGTCTCCTCCGCTGGGGATTCCAGGCTCTGAGAGGAGGGCATCGGATGAGCGCATCTTCACCCGAGATGCATCTCCTGCCGCCGCTCTTTCCAGCCTTGTCAACACCACAGCAGATACCGAACAACGCCGGCTTGCCCGCACACATCCTCCTCCATCCCGCTCCTGCTCCCAGGCCTGGCCCTCTTTCAGGCCCTCACTACTTGGGCCACCGAAAAGCATCCCTGTGTCCAGGGCCCCTCCTCCCTGCCCAACCAGAAGAATCTCCCACATTAACCTACTCATGCACCCCCGGCCCCACCCCACCCTACACCACCTGAAGCGGCACCCAGTTGCAGAATCAAGCTCAAATATGATTGGGTGCCTGGGACCCTCCCCAGCTTGGCACCGTGGCCCAGCTGCCCAGCCCACTCCACGGCTCCTGCCTGCTCTGCTACCCCGGGGCATGCGGCTCCACCCCCTGGACACCCACTGTCCTCCTGGTCTGCTCCCACCCTCTGCAAGACACAGCCCACCTGCGGCCCCTCCACGCAGCACAGAACCTCTCCTGATCTTTGCAGAAGGGGCCCCAACACCTGCCCCTCCCGCCTTACTCCCAGCGATAGCGTAGCAGTTGTCACACTGCTGGAACGCAGCAGCTCTCAGCTGGGGACAACAGTGTCCCCCTGATGCTGGGCAATGTCTGCGACACTTCTGGTTGTCACACAGGTTGCTGCTGGCAGTCGGTGGGCAGAGGCCAGGGCTGCTGCTCAGCATCCAACGCTACACAGGGCAGTGCCCCCCACAAAGAGGTACCCGGCCCTGAGTGTGCACAGCTCTGAGGTGAGAAACCCTCCTATACAATACACACCACACCTGCGAGAAAACCAAGCTCGGGCTGATTCGCTTTCTTTTTTATGTTTTGAGACACAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGCCTTGATCATGGCTTACTGCAACCTCAACTTCCTGGGCTCAAGCAATCCTCCTGCCTTAGCCTCCTGAATAGCTTGGACTACAGGCACGCACCACCAAGCCTGGCTAATTTTTTGGTAGAGATGGGGTCTCACTCTGTTGCCCAGGCACATCTCAAACCCCTAGGCTCAAGTGACCCTCCTGCCTTGGTCTCCTAAAGCAATGGAATTATAGGCGTGAGCCACTGCGCCCGGCCTGATTCTTTTTCACTGAGGCAAGGAAATGTAACCCTAACACAGGGGCCTTGGTTTCCATTTGTTCTGTTTCCTAAATTAATAAATATGCCCACAGCCCCGTAAGAAAGGCTAATCCTGGCCAGGCATATGGTTCATGCCTGTAATCCCAGAACTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAGGCATGGTGGCGCACTCCCAGCTACTGGAGAGGTTGAGGCAGGAGAACTGCTTGAACCTGGGAGGCGGAGGTTGCTGTGAGCTGAGACAGTGCCATTGCATTCCAGCCTGGGTGACAGAGCGAGACTTCGTCTCAAAAAAAAAAAGCCTAATTCTAATCCTCACTTCTCCCTGTCCTGGACTCTGGAGTGTTTCCACACACATTTGCCTGACACACACACAGGGGTGGCCAGGGACCCCCCACCATGTCCCCATTGCTCTTGAGACCTGCCAAGCCGGGAGACCCCAGAGAAAAACAGAGCCGAGGTGGGGAGTCCCGTGCCAGGATTCCCACAGGCCCTGGTGGGGATGGGCCCCAGTGAGGAAGAGCGCCTCCACCACCCCCCAAAACAGGACAAGGGACCTAGGCTGCGCACCTGTCTCCTGCGGTGAGGGCTGCCAGCCTGGCCTCCCCGGGCTGAGGCTCCGAGGTATTGTCCAGGATCCTCTGCATCTGCTGCCCCATCTCCCGGGGCTTCAGCAGCCGCCCATCATGGTAGAGCCAGACCTTGAAGTAGCGTCCTCGATGGTACACGACGATGTGCTTGCTGTCTCTCATGTGCTGGATGGTGTCTGAGCCGGCCGCAGGTTGGAGACACAAAACCAAGAGTCCCAAGTTCAGCACGTGCTGAGACGACCGTACCCTGACTCTGCAAAGGGCATGGGAGTCCCTGCTCTGCGTCTCTCCAGGCAGCCTCAGGAACCTATTCCTCAAGACGTTTTAAATGATTAAGGACAGCTTGGAGTTAAAGCTCTGGATCGGAGAGGCCTGACTTCTGAGCTCAGCTTAGTCACTCATTAGATTATGACCTCAAACAAATTACCCGAGGCCAGGCGCAGTGGGAGGCTGGGAGTGGTGGCTCACGCCTGTAATCCCAGCACATTGGGTGAGGTGAGAGGATCGTTTGAGGTCAGGAGTTCGAGACCAGCCTGGTCAACATGGTGAAATCTTGCCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGACATGCACCTCTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAAACCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACCCCACTGCACTCCAGCCTGGGTAACAGAGTGATACTCCATCTCAGGAAAAAAAAAAAAAAAAAGCATGCTTAGCAAAATGGAATATTATCATTAAAAAAAAAAAAACAAATTACCCAACCCTCCCTAAGCCTCTCCTCAGTAAAATGGAGGTCATATGTTCCCCATATGCACTGTGCAAGAATTAAGAGACGATATCCGTAAAGCCCATGTAAATAGGCATTCGATCCGTATAGTAACTTTTTATTAATTAATGACAATAGGGCAACTTAGAAAATATGCTGAGAAACATTCCGATAATTGTTTCTGAGAACCCGAGAAATGTTCTGAGAAAGAAAGTGGAAAATTACGAAACCAAGCCATTCCGTAAAAACTACTAAAACAGAGTAATTTAAGCTCCTCAGTAAGCTTAAACATCACAGAAATGTGATGAAGTACGTTCACTCCACGAATATTTATCAAGTCCTCTTAAGCACTGCTCAGTGGGGATGCACAGTGACAGCTGATCAAGGCAGATCGTCTAGTGAGGAAGACAAATAAATGCATGATTAAAAATAGGACAAGCTACCAGGAGCAGTGGCTCACCCTGTATTCCCAGCACTTCAGGAGGCCAAGGAGGGAGGATTGCTTGAGCCCAGGAGTTTGGGATCAGCCTGGGCAACATGGCAAAACCCTATCTCTACAAAAAATACAAAAATTAGCTGGGTGTGGTGGTGTGCACCTGTAGTCCCAGTTATTCTGGAGCTGAGATGGGAGGATCACTTGAGCCTGGGGAGCAGAGGCTGCAGTGAACTGAAATTGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGATCCTATCTCAAACAAACAAACAAAAACAAAATAGGACAAGTGTCACAAAAGGCTAGAAAGTGTAGGACTAGGACCAACCTAGCCTGGAGATGTGAGAAAGCCCTTCCACCCCCACTAAGGAAGTGATGTTTAAGAAGAACCCGGCCAGATGAAGAACAGAATTAATCAATATTATGCCCGATCTCATGTTTTTTTTGAGACGGAGTCTCGCTCTTATTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCTTCTCCTGCCTCAGCTTCCTAAGTAGGTGGCATTACAGGCACCTGCCACCACACCTGGCTAATTTTTGTACTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGACACTGCACCTGGCCTCCTGCTCTGATTTTTAAAATGTTTACCAAACCAAGGATGCAGGAGACCTGCTTTGGTTTGCTGAAGGGTTCCTACCAGAAACTTGGACCAAACGGCATTTGAAGCCTTCGCTTTAAA
|
Task1_train_16201
|
Mutation context: Chromosome 11, Gene CPT1A (carnitine palmitoyltransferase 1A). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
|
Pathogenic; Carnitine palmitoyl transferase 1A deficiency
|
AAGGTTGCAAGCAACTCAGCTGGACGCTCGATGACTCTGGAGGGTCCAGGGGCTTCCTGGAGAAGGAACAGGATGTGGAGGGGTCCTCTGCAGACCCTTCGCAAAAAGAGGTTCAGGAATCAGGGCACTTGCTCAAGCTGTCATCAGGAGACTCAGACCATTAATCTGCTTAATCTTTTATTTCTAGTCATCAGAATCAAGGCTGGGCATGGTGGCTCACACCTGTAATCCCAGGACTTTGGGAGGCCGAGGCGAGTGGACCACCTGAGGTCAATAGTTCGAGATCAGCCTGGCCAACATGGTGAAACCTCATCTCTACAAAACATACAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCACCATCGCACTCCAGCCTGGGCAACGGAGCAAAAACTCCATTTCCAAAAAAAAATCAAATTCAGCCGTTAACTGTGAGTGAGTTTTCGTTTACGTCTCTTTTTCTGCCGGTTTATTTTCTTATTTCTTTCTGATTAAACAATATTTATATGCAAACAACCTGGAAGGCGTGACTATAAAGATCCAGAGCTTCGTTTTTTAGCTTAGCCCAGACCCGGCATTGTGCCTTCCACCTGCAATTCCTGGCCCCAAAACAAAGCCCAATTATGAGGAGTTGGTGGCTATTATTGACCTCAGGTGATCGACCCACCTCGGTCTCCCAAAGTCCTGGGATTACAGGTGTGAACCACCGTGTCCAAATGGCAAAAATGCCATTGGTGTAAACAAGCAGCACAGAAATCGAATCAAACGTCTGGCACGGGGCAGCAGGGACACTTCCGAGACACTGTGGAGCTTTCAGACCCGAAAGTAAAATGTGTGTCCAAGCCCAAGGGTCACGGCTGCACGAGGAAGCTGAGTTGCCCTGCGTTCCACTGTCTGGACGTTCAAATGGTGGTAAAGCAGCGGTGTTCACTCGCATTTGTCTCACAGAAGCTTCTGGGGCAGGGGGTGGGGGGACCTCAGTGCTACACTGAAGAAAGCACAGATTTCAGAGCTGCGCAGAGCTGGGTTTGAACTCTAGCTTCCCCGCTCCCTCTTCCTGTGACTTGGGCAGACACCTGCACCTGTCTGAATGCTTTCTCACTGGTAAAAGGGACCCTAATGAGAGGTCACTGCAGTGCAGGCTCTGACCTTCCTAGATGGGAGTCTGGGCCATCTCCAGAACTGGATGGAATAACAGACATCACAGGTGTGCAATAAACATGTGCTATCAACAGGCGGCAGGTGGTTAGAAAAAAAAAATAAAATGAACATGTGCTGAATGTTACCTAAGGTGTCTCTGGGCTTATCTCTTGGTAGCAAGAAATAAGCCCCAGGAAAATCCAAAACCCTAGAGGTAGGAGGGACGGGGGGGTCCCTGGAGATTTCTAAACCATTCTGACAGAGTTAAGTGGGTGAGGTCCCTGCAGAGGACCCCACAGCAGTCAGTTCAAGGGTCACAGAACTCTGGAATGAACAGACTCCAAGTGCAAAGAAATGACTACATGGGGAATCAGCCCTTTGAGCAGAAATTCCATTTCAGAGCCCTATTGGCCAGGCTAAGGGCACTGTCATTATTGACCAAACCCTCGGGCCCTGACACCTTCCAAGGGGTGCCCCAGGGCCACTACCACTCTTCTCACCCTGGTCTACAGAGGAAAGGCCGCAGGGGACCGCAAACTCCTAGGGGGACCTTAACAGCACCCAGGAGACAGGAAGAAAGCTGACGTGAGAACAGCATCAGGAGCTTCATATGGAATCCAGAACAGTGACAATCATCACATTTGAAGAGACATAAAAACAGCAATAAAATCGGTAACTTCCCAGACAATTGGAGATTTCACAGGATTACTTACGCCGTTTCCAGAGTCCGATTGATTTTTGCAATTATTCCTAACGAGGGGTCGATCTTGGCGTACATCGTTGTCATCACGCCCACCACCACGATAAGCCAACTGGAGGGGCTTGCCGGGTACACGCCAGTGATGATGCCGTTCTAAAGACAGACACCCGGGCCGTGAGCGGTGTCCTCCCACAACCCACAGGGCAATGACGCTTCATGGCCCCTGGCAGCAGGGCTGCTGGGACAGCAGGCAGTGAGAAGAGGGTGTGGACAGCGTGCGTGCACTGAGAAACCACACCCCACTAGCTGGGACTCTCCCCAGAGTTTACAGCCTGCAGTGATTCCAGTTTCCTCCCTTCCACTACTTCCGAGCCAAAACCCACCCTGAAAGCTTCCCCAAGAGTCGACGCCCCGGGCCATGATAATCAGCCCAGGCACTAGTTTAGCTGGTGAAGGACGTCACTGAGCCACCATGACGTCCTGTCCCCAGCCTGCTACTGTCTAGAATGCCCCGAGACCCCGGTTCCAAAACTGCTCCTCTTGCCGCCCCTGTGTCAGAAGGGCTGCTTAACCCTGAAGATTTCATGGGAGACCTCACCCCATGTCGAGAATTTGCTGTAAAATACTCCAGCCAAAAAAAAAAAAGGATTATATCAAACAAAATTGGCAAAATTGTTGAAACAAGGAAGGGAATGGTGGGGATCTTTAATCAGTCCTCTTCACTCTTGTGTATGTTTGACAACTCCAATTAAAAAAAATTCTTCCTAAACCATCCTAATAAGATATTGATTTCACCAAGATAATGGATTAAAAATGACCAAAGCAGGCCAGGTGCGGTGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGCAGGCCGATCACTTGAGGTAAGGAGTTTGAAACCAGCCTGACCAACATGGTGAAATCCTGTTTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGTGGGCGCCTATAGTCCCAGCTACTCAGGAGGCTGAAGCAGAAGAATCACTGAGCCCAGGAGGCGGAGGTTGCAGTGAGCCAAGGTTGTGCCATTGCACTCCAACCTGGGCAACAGAGTGAGGCTCTGTCCAAAAAAAAAAAAAAAAAAAAAAATTAGCCGGGCATTGTGGTGTGCACCTATGGTCCCAACTACTTGGGTGGATGAGACAGGAGGATTGCCTGAGCCCAGTGAGGCTACAGTGAGCCGTGATCGCACCACTGCACTCCACCCTGAGCAACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAGAGGGGAGGGGAGGGGAGAGGGAGAACAACATTCCCACTGGGTTGAATATGATGGCCAAGCCTCTGCATCCAAGTTTCTATTTTCCCAGATTCCAAGGTGAAAAAGAGCAGCTCTCGGCGAGCCGAGCTAGTGCCTCAGTGAAATCTCGGATGTCACCTTGGTGGGTTATTTATCTGGGCCCAAGAACCCACAGGCTGAGCCCCAGGGACACCCGTGCAGCTGTACTGGCTCCCAGGGGCTTGCCCGCCATGCTGTCCCTGCTGCCACCTGCTCTTGAGCTTAGGCCTTTCTCAGTGGCCCACTTCAGTGCCGCCCTCGGAGAAGGAGCACCGGGAAGTGCACAAACTGAACTGAGTTACCGCTGGGGCTGGCAGGGGGGTCAGCGGGGGGGGATTTCCACTTTTGACTTGATGAACTTTCACCTAGTTTGCATGTTTTCAAACATGCACTTGTTCCTTCTATGATGTTTAAAATAAATTAAAATACATGGAAAAACAAGACACTTACTTAAAAAAGAACAAAGTTCTACTTCTTTAGATAAACAGAATTGAGAACATGTGGACTCAACTGTATTTGAACTTGTGGAGAGTTTCTTTTTTTTTGTTTGTTTTTTTTGAGACAGAGTCTCGCTCTCTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCGTGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTGCAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTG
|
AAGGTTGCAAGCAACTCAGCTGGACGCTCGATGACTCTGGAGGGTCCAGGGGCTTCCTGGAGAAGGAACAGGATGTGGAGGGGTCCTCTGCAGACCCTTCGCAAAAAGAGGTTCAGGAATCAGGGCACTTGCTCAAGCTGTCATCAGGAGACTCAGACCATTAATCTGCTTAATCTTTTATTTCTAGTCATCAGAATCAAGGCTGGGCATGGTGGCTCACACCTGTAATCCCAGGACTTTGGGAGGCCGAGGCGAGTGGACCACCTGAGGTCAATAGTTCGAGATCAGCCTGGCCAACATGGTGAAACCTCATCTCTACAAAACATACAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCACCATCGCACTCCAGCCTGGGCAACGGAGCAAAAACTCCATTTCCAAAAAAAAATCAAATTCAGCCGTTAACTGTGAGTGAGTTTTCGTTTACGTCTCTTTTTCTGCCGGTTTATTTTCTTATTTCTTTCTGATTAAACAATATTTATATGCAAACAACCTGGAAGGCGTGACTATAAAGATCCAGAGCTTCGTTTTTTAGCTTAGCCCAGACCCGGCATTGTGCCTTCCACCTGCAATTCCTGGCCCCAAAACAAAGCCCAATTATGAGGAGTTGGTGGCTATTATTGACCTCAGGTGATCGACCCACCTCGGTCTCCCAAAGTCCTGGGATTACAGGTGTGAACCACCGTGTCCAAATGGCAAAAATGCCATTGGTGTAAACAAGCAGCACAGAAATCGAATCAAACGTCTGGCACGGGGCAGCAGGGACACTTCCGAGACACTGTGGAGCTTTCAGACCCGAAAGTAAAATGTGTGTCCAAGCCCAAGGGTCACGGCTGCACGAGGAAGCTGAGTTGCCCTGCGTTCCACTGTCTGGACGTTCAAATGGTGGTAAAGCAGCGGTGTTCACTCGCATTTGTCTCACAGAAGCTTCTGGGGCAGGGGGTGGGGGGACCTCAGTGCTACACTGAAGAAAGCACAGATTTCAGAGCTGCGCAGAGCTGGGTTTGAACTCTAGCTTCCCCGCTCCCTCTTCCTGTGACTTGGGCAGACACCTGCACCTGTCTGAATGCTTTCTCACTGGTAAAAGGGACCCTAATGAGAGGTCACTGCAGTGCAGGCTCTGACCTTCCTAGATGGGAGTCTGGGCCATCTCCAGAACTGGATGGAATAACAGACATCACAGGTGTGCAATAAACATGTGCTATCAACAGGCGGCAGGTGGTTAGAAAAAAAAAATAAAATGAACATGTGCTGAATGTTACCTAAGGTGTCTCTGGGCTTATCTCTTGGTAGCAAGAAATAAGCCCCAGGAAAATCCAAAACCCTAGAGGTAGGAGGGACGGGGGGGTCCCTGGAGATTTCTAAACCATTCTGACAGAGTTAAGTGGGTGAGGTCCCTGCAGAGGACCCCACAGCAGTCAGTTCAAGGGTCACAGAACTCTGGAATGAACAGACTCCAAGTGCAAAGAAATGACTACATGGGGAATCAGCCCTTTGAGCAGAAATTCCATTTCAGAGCCCTATTGGCCAGGCTAAGGGCACTGTCATTATTGACCAAACCCTCGGGCCCTGACACCTTCCAAGGGGTGCCCCAGGGCCACTACCACTCTTCTCACCCTGGTCTACAGAGGAAAGGCCGCAGGGGACCGCAAACTCCTAGGGGGACCTTAACAGCACCCAGGAGACAGGAAGAAAGCTGACGTGAGAACAGCATCAGGAGCTTCATATGGAATCCAGAACAGTGACAATCATCACATTTGAAGAGACATAAAAACAGCAATAAAATCGGTAACTTCCCAGACAATTGGAGATTTCACAGGATTACTTACGCCGTTTCCAGAGTCCGATTGATTTTTGCAATTATTCCTAACGAGGGGTCGATCTTGGCGTACATCGTTGTCATCACGCCCACCACCACGATAAGCCAACTGGAGGGGCTTGCCAGGTACACGCCAGTGATGATGCCGTTCTAAAGACAGACACCCGGGCCGTGAGCGGTGTCCTCCCACAACCCACAGGGCAATGACGCTTCATGGCCCCTGGCAGCAGGGCTGCTGGGACAGCAGGCAGTGAGAAGAGGGTGTGGACAGCGTGCGTGCACTGAGAAACCACACCCCACTAGCTGGGACTCTCCCCAGAGTTTACAGCCTGCAGTGATTCCAGTTTCCTCCCTTCCACTACTTCCGAGCCAAAACCCACCCTGAAAGCTTCCCCAAGAGTCGACGCCCCGGGCCATGATAATCAGCCCAGGCACTAGTTTAGCTGGTGAAGGACGTCACTGAGCCACCATGACGTCCTGTCCCCAGCCTGCTACTGTCTAGAATGCCCCGAGACCCCGGTTCCAAAACTGCTCCTCTTGCCGCCCCTGTGTCAGAAGGGCTGCTTAACCCTGAAGATTTCATGGGAGACCTCACCCCATGTCGAGAATTTGCTGTAAAATACTCCAGCCAAAAAAAAAAAAGGATTATATCAAACAAAATTGGCAAAATTGTTGAAACAAGGAAGGGAATGGTGGGGATCTTTAATCAGTCCTCTTCACTCTTGTGTATGTTTGACAACTCCAATTAAAAAAAATTCTTCCTAAACCATCCTAATAAGATATTGATTTCACCAAGATAATGGATTAAAAATGACCAAAGCAGGCCAGGTGCGGTGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGCAGGCCGATCACTTGAGGTAAGGAGTTTGAAACCAGCCTGACCAACATGGTGAAATCCTGTTTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGTGGGCGCCTATAGTCCCAGCTACTCAGGAGGCTGAAGCAGAAGAATCACTGAGCCCAGGAGGCGGAGGTTGCAGTGAGCCAAGGTTGTGCCATTGCACTCCAACCTGGGCAACAGAGTGAGGCTCTGTCCAAAAAAAAAAAAAAAAAAAAAAATTAGCCGGGCATTGTGGTGTGCACCTATGGTCCCAACTACTTGGGTGGATGAGACAGGAGGATTGCCTGAGCCCAGTGAGGCTACAGTGAGCCGTGATCGCACCACTGCACTCCACCCTGAGCAACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAGAGGGGAGGGGAGGGGAGAGGGAGAACAACATTCCCACTGGGTTGAATATGATGGCCAAGCCTCTGCATCCAAGTTTCTATTTTCCCAGATTCCAAGGTGAAAAAGAGCAGCTCTCGGCGAGCCGAGCTAGTGCCTCAGTGAAATCTCGGATGTCACCTTGGTGGGTTATTTATCTGGGCCCAAGAACCCACAGGCTGAGCCCCAGGGACACCCGTGCAGCTGTACTGGCTCCCAGGGGCTTGCCCGCCATGCTGTCCCTGCTGCCACCTGCTCTTGAGCTTAGGCCTTTCTCAGTGGCCCACTTCAGTGCCGCCCTCGGAGAAGGAGCACCGGGAAGTGCACAAACTGAACTGAGTTACCGCTGGGGCTGGCAGGGGGGTCAGCGGGGGGGGATTTCCACTTTTGACTTGATGAACTTTCACCTAGTTTGCATGTTTTCAAACATGCACTTGTTCCTTCTATGATGTTTAAAATAAATTAAAATACATGGAAAAACAAGACACTTACTTAAAAAAGAACAAAGTTCTACTTCTTTAGATAAACAGAATTGAGAACATGTGGACTCAACTGTATTTGAACTTGTGGAGAGTTTCTTTTTTTTTGTTTGTTTTTTTTGAGACAGAGTCTCGCTCTCTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCGTGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTGCAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTG
|
Task1_train_16202
|
A variant was discovered on Chromosome 11, affecting CPT1A (carnitine palmitoyltransferase 1A). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
|
Pathogenic; Carnitine palmitoyl transferase 1A deficiency
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AGGAGGCTGAAGCAGAAGAATCACTGAGCCCAGGAGGCGGAGGTTGCAGTGAGCCAAGGTTGTGCCATTGCACTCCAACCTGGGCAACAGAGTGAGGCTCTGTCCAAAAAAAAAAAAAAAAAAAAAAATTAGCCGGGCATTGTGGTGTGCACCTATGGTCCCAACTACTTGGGTGGATGAGACAGGAGGATTGCCTGAGCCCAGTGAGGCTACAGTGAGCCGTGATCGCACCACTGCACTCCACCCTGAGCAACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAGAGGGGAGGGGAGGGGAGAGGGAGAACAACATTCCCACTGGGTTGAATATGATGGCCAAGCCTCTGCATCCAAGTTTCTATTTTCCCAGATTCCAAGGTGAAAAAGAGCAGCTCTCGGCGAGCCGAGCTAGTGCCTCAGTGAAATCTCGGATGTCACCTTGGTGGGTTATTTATCTGGGCCCAAGAACCCACAGGCTGAGCCCCAGGGACACCCGTGCAGCTGTACTGGCTCCCAGGGGCTTGCCCGCCATGCTGTCCCTGCTGCCACCTGCTCTTGAGCTTAGGCCTTTCTCAGTGGCCCACTTCAGTGCCGCCCTCGGAGAAGGAGCACCGGGAAGTGCACAAACTGAACTGAGTTACCGCTGGGGCTGGCAGGGGGGTCAGCGGGGGGGGATTTCCACTTTTGACTTGATGAACTTTCACCTAGTTTGCATGTTTTCAAACATGCACTTGTTCCTTCTATGATGTTTAAAATAAATTAAAATACATGGAAAAACAAGACACTTACTTAAAAAAGAACAAAGTTCTACTTCTTTAGATAAACAGAATTGAGAACATGTGGACTCAACTGTATTTGAACTTGTGGAGAGTTTCTTTTTTTTTGTTTGTTTTTTTTGAGACAGAGTCTCGCTCTCTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCGTGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTGCAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGACCTTATGCAGAGAGTTTCTAATGTGTGAATGTTTTATAAACAAAGTAGTTATTACATCCACTTGCTGAAGTTTGGAAAAAATATTTTTTTGTTTTTTTGAGACAAAGTCTCGCTCTGTTGCCCAGGCTGGAGTGTGGTGGCTCAATCATGGCTCACTGCAGTCTCTGCCTCCCAGGTTCAAGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCATGCCAACATACCTGCCTAATTTTTCTATTTTTTGTAGAGATGGGGTTTTGTCGTGTCACCCAGGCTGGTCTTAAACTCCTGAGCTCAAGCAATCCGCCCACCTCAGCTTCCCAAAGTGCAGGGATTATAGGTGTGAGCCACTGCACCTGGCCTGGAAAAATCCTATTTGAACAAGGTGTAAAGGATTCTGACTCAGAGCAGAAGATGTGAATTCTAGTCTTTACTCTGCCTCCTATTAAGTAGGTCGCTGGCCCTTTAAGCCTCGATTTCCCAGCCTGCTTTAACGCATGCCAAGTCCCTCCACCTGCCTAATGGAACTGCTCCAAGCATCCAGTGAGCTAAAGTCTATGTGACGGTGTCCCCAAGCCTTAAGTACCATGGAAACAGGTAAGTGATATGCAGTCGCCAGTCTGAAACACGTAGACCTCAATAGCAGCCAGAGCCCCGTTCTTAGATATTAAAAGGCATACTGTGTAGATTTCAACAAATCTCAGAAAACCTTGAATCTGATGAACTTCTTTTTCCAGGAATGAAGTCCAGAGAGATAGATTTGTCTAAGAGCTTCATGGCTCAGCCGCAGGTCAATCCCGTCCGGAGTGACCGTGAACTGAAAGGCCACAGCTTGGTGAGCTTCTGCCATCTTCAGAGAGTACCTGGAAGGAGAAGGAGAAAATGTAACACAGTGGAACGTGTGACCAGACACTAAAAAACCCTCATACAGAAGTGCCATTCCTTCTGAACTTAAGTTCTTCCTCGCCACTTAACAGATTTAATACTTTTCATCAACAGACCAATTCCATCACCACAGCTGGCACCCCCTTGCCTGTCCACCGCTACAAAGACAGTCGCCACCTCTGCTTAGAGCCCCAAGATGATCATCAGGAGTCAGGCCCGTGGTACCCCAACCCTGGCCCTGGACATTCCCTGGAACCACGCCTCCAAGCCAGCATCCAGGCCCGTGGTACCTCAACTCTGGCCCTGGACGTCCCCCAGAACCACGCCTCCAAGCCAGCATCCAGGCCCGTGGTACCCCAACCCTGGCCCTGGACGTCCCCCGGAACCATGCCTCCAAGCCAGCATCCAGGCCCGTGGTACCCCAACCCTGGCCCTGGACATTCCCGGGAACCACGCCTCCAAGCCAGCATCCAGGCCCGTGGTACCCCAACCCTGGCCCTGGACGTCCCCCGGAACCACGCCTCCAAGCCAGCATCCAGGCCACACCTACTGACGTAAAGCCCACGGCGCTTCAGCAACTCGCACAGCACAGACAAATCTCAATCTTGCAGCCAGGCCCTTGGAGGCTGGCATTAGAAGAGGCCCAGAGTGTCCACGCAGGAGTCCACGAAGGAGCCCACGACAGCCCTAGACTCTGAACTTCGAGCGCAGATCAATCCCAAATGCCTCTGCCTCTGGTGTCTGTGTGGCTGCTCTTTCGAGAAACTGTTCTAGGGTTTCGGAGAGACCCACGAAGACTCCATGAGTCATATGCGCAGACACCTCAAGAATGGGTGTCCACAGACGGAGCGGGCCTTCTTCCTTGGAGGCAGCGGCTGAAACGGAACGTGCCTTGGCGGCCCCACGGGCTAAACGGATCCCGGGGCGCTGCAGTCCAGACCCAAGCACAGCCCCTGGGGAGAGCATCCCCTGGCCGGCTGCAGAAAACTGCTTCCGGATCTGCTACATTCTTCCTGTACCCTTCATCCTGGCTCCGGCCGCCTTCCTTCAGGCTCCTTGGCACAGCCGCTCAGCACAACACAGCCCACCCCCATCCCCTCCTGGACCCCCCGGGGTGGTGGCTCCTGCCCTTCTCACGGTGCCTCCTCCACCTCCTCCCAAGCTGCCTGCCACAAAGTACTAAATGGATAAAAGAGAAGCTAAGAGGAAAAAACTTTCAAGGACCATAATAAAAATCCAAAAACTCGTGTGTGTGTGTGTGTGTGTGTGTGGTGTGTGTGTGTATACGTGTGTGTGGTATGTGTGTGTGGTGTGTGTGGTGTATGTGTGTGGTGTGTGCGTGTGTGGTGTGTGTGTGTGGTGTACATGTGTATATGTGTGTGTGGTGTGTGTGGGTGTGTGTGTGGTGTGTGTGTGGGTGTGTGTGTGGGGTGAGTGTGTGTGGTGTGTATGGTGTGTGTGTGGTGTGGGGGGGTGCGTGGGTGTGTGTGTGGTATGTGTGGGGGGTGGGTGTGTGTGTGGGTGTGTGGTGATGTGTGGTTGTGTGGGGGGTGGGTGTGTGTGGGTGCGTGTGTGTGGTTGTGTGTGTGTGGTGTGTGTGTGTGGGTGTGTGGTGATGTGTGGTTGTGTGGGGGTGTGTGTGTCTGTGTGTGTGTGTGTGGTGTGTGTGTGTGGGTGTGTGTGCGTGTTCTCACCACAGGATGATTTTCCTGTTTTCGCCCACTGATGCCCTCTGAAGGTGAGATCAAAATCAGTGGCTATCACAGTTTCAAAGATCCCCTGTTACAGAAATCAGCCTGACTCAGTCCTCCACCAGCCAAAACACAGAACCATCCGCTGGCAGGCCCTAGAAAGGCACCCGACTTCAGACATCTGTCCATATTACAAATATTTGTTGACTGCCTCCAACGTGCCAGCCGAGGAGAAGAGCTGCACACCAGCAGAAAAGGTCCCTCTGCCCTCCCACAGCTTAGACCGGGCTAACAAGCAACGCAGGAGCAGTGCTCTGGTG
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AGGAGGCTGAAGCAGAAGAATCACTGAGCCCAGGAGGCGGAGGTTGCAGTGAGCCAAGGTTGTGCCATTGCACTCCAACCTGGGCAACAGAGTGAGGCTCTGTCCAAAAAAAAAAAAAAAAAAAAAAATTAGCCGGGCATTGTGGTGTGCACCTATGGTCCCAACTACTTGGGTGGATGAGACAGGAGGATTGCCTGAGCCCAGTGAGGCTACAGTGAGCCGTGATCGCACCACTGCACTCCACCCTGAGCAACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAGAGGGGAGGGGAGGGGAGAGGGAGAACAACATTCCCACTGGGTTGAATATGATGGCCAAGCCTCTGCATCCAAGTTTCTATTTTCCCAGATTCCAAGGTGAAAAAGAGCAGCTCTCGGCGAGCCGAGCTAGTGCCTCAGTGAAATCTCGGATGTCACCTTGGTGGGTTATTTATCTGGGCCCAAGAACCCACAGGCTGAGCCCCAGGGACACCCGTGCAGCTGTACTGGCTCCCAGGGGCTTGCCCGCCATGCTGTCCCTGCTGCCACCTGCTCTTGAGCTTAGGCCTTTCTCAGTGGCCCACTTCAGTGCCGCCCTCGGAGAAGGAGCACCGGGAAGTGCACAAACTGAACTGAGTTACCGCTGGGGCTGGCAGGGGGGTCAGCGGGGGGGGATTTCCACTTTTGACTTGATGAACTTTCACCTAGTTTGCATGTTTTCAAACATGCACTTGTTCCTTCTATGATGTTTAAAATAAATTAAAATACATGGAAAAACAAGACACTTACTTAAAAAAGAACAAAGTTCTACTTCTTTAGATAAACAGAATTGAGAACATGTGGACTCAACTGTATTTGAACTTGTGGAGAGTTTCTTTTTTTTTGTTTGTTTTTTTTGAGACAGAGTCTCGCTCTCTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCGTGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTGCAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGACCTTATGCAGAGAGTTTCTAATGTGTGAATGTTTTATAAACAAAGTAGTTATTACATCCACTTGCTGAAGTTTGGAAAAAATATTTTTTTGTTTTTTTGAGACAAAGTCTCGCTCTGTTGCCCAGGCTGGAGTGTGGTGGCTCAATCATGGCTCACTGCAGTCTCTGCCTCCCAGGTTCAAGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCATGCCAACATACCTGCCTAATTTTTCTATTTTTTGTAGAGATGGGGTTTTGTCGTGTCACCCAGGCTGGTCTTAAACTCCTGAGCTCAAGCAATCCGCCCACCTCAGCTTCCCAAAGTGCAGGGATTATAGGTGTGAGCCACTGCACCTGGCCTGGAAAAATCCTATTTGAACAAGGTGTAAAGGATTCTGACTCAGAGCAGAAGATGTGAATTCTAGTCTTTACTCTGCCTCCTATTAAGTAGGTCGCTGGCCCTTTAAGCCTCGATTTCCCAGCCTGCTTTAACGCATGCCAAGTCCCTCCACCTGCCTAATGGAACTGCTCCAAGCATCCAGTGAGCTAAAGTCTATGTGACGGTGTCCCCAAGCCTTAAGTACCATGGAAACAGGTAAGTGATATGCAGTCGCCAGTCTGAAACACGTAGACCTCAATAGCAGCCAGAGCCCCGTTCTTAGATATTAAAAGGCATACTGTGTAGATTTCAACAAATCTCAGAAAACCTTGAATCTGATGAACTTCTTTTTCCAGGAATGAAGTCCAGAGAGATAGATTTGTCTAAGAGCTTCATGGCTCAGCCGCAGGTCAATCCCGTCCGGAGTGACCGTGAACTGAAAGGCCACAGCTTGGTGAGCTTCTGCCCTCTTCAGAGAGTACCTGGAAGGAGAAGGAGAAAATGTAACACAGTGGAACGTGTGACCAGACACTAAAAAACCCTCATACAGAAGTGCCATTCCTTCTGAACTTAAGTTCTTCCTCGCCACTTAACAGATTTAATACTTTTCATCAACAGACCAATTCCATCACCACAGCTGGCACCCCCTTGCCTGTCCACCGCTACAAAGACAGTCGCCACCTCTGCTTAGAGCCCCAAGATGATCATCAGGAGTCAGGCCCGTGGTACCCCAACCCTGGCCCTGGACATTCCCTGGAACCACGCCTCCAAGCCAGCATCCAGGCCCGTGGTACCTCAACTCTGGCCCTGGACGTCCCCCAGAACCACGCCTCCAAGCCAGCATCCAGGCCCGTGGTACCCCAACCCTGGCCCTGGACGTCCCCCGGAACCATGCCTCCAAGCCAGCATCCAGGCCCGTGGTACCCCAACCCTGGCCCTGGACATTCCCGGGAACCACGCCTCCAAGCCAGCATCCAGGCCCGTGGTACCCCAACCCTGGCCCTGGACGTCCCCCGGAACCACGCCTCCAAGCCAGCATCCAGGCCACACCTACTGACGTAAAGCCCACGGCGCTTCAGCAACTCGCACAGCACAGACAAATCTCAATCTTGCAGCCAGGCCCTTGGAGGCTGGCATTAGAAGAGGCCCAGAGTGTCCACGCAGGAGTCCACGAAGGAGCCCACGACAGCCCTAGACTCTGAACTTCGAGCGCAGATCAATCCCAAATGCCTCTGCCTCTGGTGTCTGTGTGGCTGCTCTTTCGAGAAACTGTTCTAGGGTTTCGGAGAGACCCACGAAGACTCCATGAGTCATATGCGCAGACACCTCAAGAATGGGTGTCCACAGACGGAGCGGGCCTTCTTCCTTGGAGGCAGCGGCTGAAACGGAACGTGCCTTGGCGGCCCCACGGGCTAAACGGATCCCGGGGCGCTGCAGTCCAGACCCAAGCACAGCCCCTGGGGAGAGCATCCCCTGGCCGGCTGCAGAAAACTGCTTCCGGATCTGCTACATTCTTCCTGTACCCTTCATCCTGGCTCCGGCCGCCTTCCTTCAGGCTCCTTGGCACAGCCGCTCAGCACAACACAGCCCACCCCCATCCCCTCCTGGACCCCCCGGGGTGGTGGCTCCTGCCCTTCTCACGGTGCCTCCTCCACCTCCTCCCAAGCTGCCTGCCACAAAGTACTAAATGGATAAAAGAGAAGCTAAGAGGAAAAAACTTTCAAGGACCATAATAAAAATCCAAAAACTCGTGTGTGTGTGTGTGTGTGTGTGTGGTGTGTGTGTGTATACGTGTGTGTGGTATGTGTGTGTGGTGTGTGTGGTGTATGTGTGTGGTGTGTGCGTGTGTGGTGTGTGTGTGTGGTGTACATGTGTATATGTGTGTGTGGTGTGTGTGGGTGTGTGTGTGGTGTGTGTGTGGGTGTGTGTGTGGGGTGAGTGTGTGTGGTGTGTATGGTGTGTGTGTGGTGTGGGGGGGTGCGTGGGTGTGTGTGTGGTATGTGTGGGGGGTGGGTGTGTGTGTGGGTGTGTGGTGATGTGTGGTTGTGTGGGGGGTGGGTGTGTGTGGGTGCGTGTGTGTGGTTGTGTGTGTGTGGTGTGTGTGTGTGGGTGTGTGGTGATGTGTGGTTGTGTGGGGGTGTGTGTGTCTGTGTGTGTGTGTGTGGTGTGTGTGTGTGGGTGTGTGTGCGTGTTCTCACCACAGGATGATTTTCCTGTTTTCGCCCACTGATGCCCTCTGAAGGTGAGATCAAAATCAGTGGCTATCACAGTTTCAAAGATCCCCTGTTACAGAAATCAGCCTGACTCAGTCCTCCACCAGCCAAAACACAGAACCATCCGCTGGCAGGCCCTAGAAAGGCACCCGACTTCAGACATCTGTCCATATTACAAATATTTGTTGACTGCCTCCAACGTGCCAGCCGAGGAGAAGAGCTGCACACCAGCAGAAAAGGTCCCTCTGCCCTCCCACAGCTTAGACCGGGCTAACAAGCAACGCAGGAGCAGTGCTCTGGTG
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Task1_train_16203
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Gene IGHMBP2 (immunoglobulin mu DNA binding protein 2) 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; not provided
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TTAAAATAATGTTCTTTTTAGTGTATATAAATCTTTTATTTTGAAATGTAATGATATTTCTTTTAGCTTAGTACTTTGTGAAAATAGAGGAAAGCTGATCATACTTTATGCTTGATAGCAATTTTAGGTTGGAAAAATCTTTTTTTTTTTTTTTTGAGACGGAGACTTGCTCTGTCACCAAGAGTGGGGTGCAGTGGTGCGACCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGACTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTGCCCGCCACCATGCCCGGCTAATTTTTGTATTTTTTAGTAGAGACAACATGGTTTCACCATGTTGGTCGGGCCGGTCTTGAACTCCTGACCTCAGGTGATCTACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTCTGTGCACTTTTTATGTCCTTTGCTGTTCTTGGAGAACGTCATTTTTGGGAGGAGTTTGTTGTCTCATCCAGTCACTGCCCATGATTTAACAGTCCTGTGAGTATTGGACTTGGCCCATTTGTAAAGCGGTGGCTTTGGCCAAGCCTCATGCAAGGGTTACCCCACAGCTATTTTCTATCATACTGTGCTAGGCAAGCCAGTGTTGTGTTAGCTTCAAACACACAGGACGACTTTGTAGCACTCTTTCAGCATGCAGTCCCTCAAGATGTGTTGTTTTTAAATACTCATTTTCTTTCTGCATTTTCCTTTGGAAATTCTAAATGCAGTCACATTTCAGTAATGCTTTATTTCTATGAAATATTTACTGAAGGGCTCCTATGCGTCACAAACTGAATTAGAAATGTATTTACTGTGTCTTAGGGACTCTGGAATGGCTTGGCTAGAGCACGGGAACGTGGGGTTCAATGGCCTGTTACTAGCTGCACACCCTGCCGTCTTCCATGTTGGCTTCAGTCTCACAAGTCAGGGTCAGCAAACACCCTTTGCTTATGAGCTGCTCCTTATCCGATAGGCGTCTCTGTGTAGTGGGCACCATGTAGCGAATGCCATGGCTGCAGGGCTGAGCACAGCACCACCTGCTCTCAAGAGCACAGCATAAGAAGCAGGTCTTGGCCAGGCGCGGTGGCTCACACCTTTAGTCCCAGCACTTTGGGAGGCTGAGGCCGGCAGATCATGAGGTCAGGAGATCAAGACCATCCTGGCCAACACGGTGAATCCCCGTCTCTACTAACAACACAAAAAATTAGCTGGGCATGGTGGCACTCACCTGTAGTCCCAGCTACTCTGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGATGTTGCAGTGAGCTGAGATCATGCCATTGCACTCCAGCCTGGGTGACAAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAGCAGATCTTTAGTCTTGGTCGTGGAAGATTCAAAATAGAAACACGATCCTAGAATTTGTTAATCATTGTTTTTGTCATTTGTCTTTATCATTTTATGGGCACTTTAAAGAGGGACATTATGTTAGAAAGGAATATGCTCTAGGAAACATTTCCTTCATTCCTGTTACTCTAGAGCAGGGGTTTTTCCTGTAAAGGGATGGATTGTGAATGTTTTGACTCTGTGGGCCATATCATACGTACCGTCTACAGCTGCCTGCTGTAGACGGTATGTAAATCAATGGGTGTGGCTGTGCTCCAGTAAAACTCACCAAAACCGGCAGCTGACTGGATGTGGCCCACAGTTTGCCGATTCCTGTTCAAGGAGAAACCTTGTGAAAATAAAGCAGACTTAATTTTGTGTTGATTGGGTTGCCCCTGGGGAGGTCCGGCGTGTTCCTGACAGGCATCACTCATCCCCCGGGGCACACACTCTCTGAGGAGGAACACCCACAGAGCTCCCCAGAGCACCTGAGCCTCACGCTGCTGCTTCTTCCACAGACCCGCTGACATTCTTCAACACCTGCCTGGACACCTCCCAGAAAGAAGCGGTTTTATTTGCGCTGTCTCAGAAAGAACTTGCCATCATCCATGGACCTCCTGGCACTGGGAAAACCACGACTGTGGTTGAGATCATTCTTCAAGCTGTGAAACAAGGCTTAAAGGTGGGCAGTGCATGCCACTTCCCTGTCAGAGCCCGTCCGCTCCTGGTCTGTTGTGTTCAGTGGGTGCTCAGCGACCTTTCAGCCTCAGTTCTGGTGGGATGGGTCAGGAACATTACTGAGCATTTATTGATTGAGCCTTGGACTGCCCCTGTTTGATTTCCAGCATCCCCGTGAGTCTTGGGGAGCACGCGCAGGAGCCGTAGCCTGGGTTGTTGAGGAAGGCTCCTGGAGCCCTTTGAGGCGTGGCAGCCTTCGTGTCGGCCAGGCCCTGGGTCAGGGTTTATTTGTTCACCACGCTTGCTGTGCTCGTGCTCCTCCGTGTGCACGCCCGTGCAGGGGCCTGGAGTTGGCCTGGGCCCGGTCTGTGCCCGTCAGGAGCTCAGCGTCTGGTTGAGGTGTTAACAGCTAATCAGATAGTCTGGTTAATGGATACGATGCACATGTCCAGTGCACAGATGAATGATTTTCTGAGATGTGGAATATAACATTGTACATTATTATTCACTTACATTTTAAATTTTTTTTATTTTTATTTTTTGGAGACGGAGCCTCACTCTGTCACCCAGGCTAGAGTCTGGAGTGCAGGGGCGGGATCTTGGCTCCCTGCAACCTCCGCCTCCCGGGTTTAAGTGATTCTCCTACCTCAGCCTCCCGAACAGCTGGGATTATAGGCGTGCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTCACCACATTGGCCAGTCTGGTCTCACTCCTGACTTCAGTTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTACGATTACAGGCATGAGCCACTGTGCCCGGCCCAGTTACATTTTTAATGGCTGAAAAAGGATCTTTTATCATCATCTGCATCAGCTTGAGTCATTGTGGATCTTGGCACATGGAGAGTTTTTTTTTTTTTAATTTATTTATTTATTTTTAATTATACTTTAAGTTCTAGAGCTTTTTGAAAAAACTTTCTGGTTTATAAAAATGTTGGATAATGATGAGAATTGGAATAATGGCCAGTTTTGTAGTTTGATGTTTACTGGGTGCTGCCTACCACCAGGCATCGTTCTGAGCACCCATTTAATCCTCACTGAAACCCTGTGCCAAGGCAGGTGGTTAGTGGCCCCAGTTTGTAGACAAGGAAGCCGGGTGTGGTGGCTCACACCTGTATTCTCAGTACTTTGGGAGGCTGAGGCGGGTGGGTCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAACAATTAGCCGGGTGTGGTGGCACACACCTGCAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAACTGAGATCGCACCATTGCACTCCAGCCTGGGCAATAAGAGCAAAACTCCATCTCCAAAAAAAAAAAAAAAAAAAAAAAAACCAAAAAAACCACGAGGAAACTGAGAAACAAGGTCAAATGCCCAGCACTCAGAGTGGCAGAGCCAGCAATGGAACTCGGGCAGAGCGCAGGGAAGCCTGTCACTTGCTTAAAAGATTACGTCCAGCGGTTTTCCAATGTGTGAGTGTCTTTGCACATGTTTGAAAACTGGTAAGAAAAGATGACTTATTGGAAGGGAGCAGATTGGTGGTTTTAATTGGGTGCCGACTATTCACTAAAAGTGAGCCAAGACACACCTGTGTGCACGCTTTGGTGGAGATATGCCTTTGGACATGCCAGTGGGGTTGGAGGCGATGCTGGGCATAGAGAGTGGGTGGCTGAGCCTCCTTCCTGAGCTGCTGTTTGTTTTGAGCTTAAGGGCCTGTAGAGACTCTGCCTCCTCTGCTGGTTGCCACCTCCTCTTTTTTTTTTCCTCAGAGATGGGGTCTCACTATGTTGTCCAGGGTGGTCTTAAACTCCTGACCTCGCACCTTGGCCTCCCAAAGTGCTGGGATTACAG
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TTAAAATAATGTTCTTTTTAGTGTATATAAATCTTTTATTTTGAAATGTAATGATATTTCTTTTAGCTTAGTACTTTGTGAAAATAGAGGAAAGCTGATCATACTTTATGCTTGATAGCAATTTTAGGTTGGAAAAATCTTTTTTTTTTTTTTTTGAGACGGAGACTTGCTCTGTCACCAAGAGTGGGGTGCAGTGGTGCGACCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGACTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTGCCCGCCACCATGCCCGGCTAATTTTTGTATTTTTTAGTAGAGACAACATGGTTTCACCATGTTGGTCGGGCCGGTCTTGAACTCCTGACCTCAGGTGATCTACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTCTGTGCACTTTTTATGTCCTTTGCTGTTCTTGGAGAACGTCATTTTTGGGAGGAGTTTGTTGTCTCATCCAGTCACTGCCCATGATTTAACAGTCCTGTGAGTATTGGACTTGGCCCATTTGTAAAGCGGTGGCTTTGGCCAAGCCTCATGCAAGGGTTACCCCACAGCTATTTTCTATCATACTGTGCTAGGCAAGCCAGTGTTGTGTTAGCTTCAAACACACAGGACGACTTTGTAGCACTCTTTCAGCATGCAGTCCCTCAAGATGTGTTGTTTTTAAATACTCATTTTCTTTCTGCATTTTCCTTTGGAAATTCTAAATGCAGTCACATTTCAGTAATGCTTTATTTCTATGAAATATTTACTGAAGGGCTCCTATGCGTCACAAACTGAATTAGAAATGTATTTACTGTGTCTTAGGGACTCTGGAATGGCTTGGCTAGAGCACGGGAACGTGGGGTTCAATGGCCTGTTACTAGCTGCACACCCTGCCGTCTTCCATGTTGGCTTCAGTCTCACAAGTCAGGGTCAGCAAACACCCTTTGCTTATGAGCTGCTCCTTATCCGATAGGCGTCTCTGTGTAGTGGGCACCATGTAGCGAATGCCATGGCTGCAGGGCTGAGCACAGCACCACCTGCTCTCAAGAGCACAGCATAAGAAGCAGGTCTTGGCCAGGCGCGGTGGCTCACACCTTTAGTCCCAGCACTTTGGGAGGCTGAGGCCGGCAGATCATGAGGTCAGGAGATCAAGACCATCCTGGCCAACACGGTGAATCCCCGTCTCTACTAACAACACAAAAAATTAGCTGGGCATGGTGGCACTCACCTGTAGTCCCAGCTACTCTGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGATGTTGCAGTGAGCTGAGATCATGCCATTGCACTCCAGCCTGGGTGACAAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAGCAGATCTTTAGTCTTGGTCGTGGAAGATTCAAAATAGAAACACGATCCTAGAATTTGTTAATCATTGTTTTTGTCATTTGTCTTTATCATTTTATGGGCACTTTAAAGAGGGACATTATGTTAGAAAGGAATATGCTCTAGGAAACATTTCCTTCATTCCTGTTACTCTAGAGCAGGGGTTTTTCCTGTAAAGGGATGGATTGTGAATGTTTTGACTCTGTGGGCCATATCATACGTACCGTCTACAGCTGCCTGCTGTAGACGGTATGTAAATCAATGGGTGTGGCTGTGCTCCAGTAAAACTCACCAAAACCGGCAGCTGACTGGATGTGGCCCACAGTTTGCCGATTCCTGTTCAAGGAGAAACCTTGTGAAAATAAAGCAGACTTAATTTTGTGTTGATTGGGTTGCCCCTGGGGAGGTCCGGCGTGTTCCTGACAGGCATCACTCATCCCCCGGGGCACACACTCTCTGAGGAGGAACACCCACAGAGCTCCCCAGAGCACCTGAGCCTCACGCTGCTGCTTCTTCCACAGACCCGCTGACATTCTTCAACACCTGCCTGGACACCTCCCAGAAAGAAGCGGTTTTATTTGCGCTGTCTCAGAAAGAACTTGCCATCATCCATGGACCTCATGGCACTGGGAAAACCACGACTGTGGTTGAGATCATTCTTCAAGCTGTGAAACAAGGCTTAAAGGTGGGCAGTGCATGCCACTTCCCTGTCAGAGCCCGTCCGCTCCTGGTCTGTTGTGTTCAGTGGGTGCTCAGCGACCTTTCAGCCTCAGTTCTGGTGGGATGGGTCAGGAACATTACTGAGCATTTATTGATTGAGCCTTGGACTGCCCCTGTTTGATTTCCAGCATCCCCGTGAGTCTTGGGGAGCACGCGCAGGAGCCGTAGCCTGGGTTGTTGAGGAAGGCTCCTGGAGCCCTTTGAGGCGTGGCAGCCTTCGTGTCGGCCAGGCCCTGGGTCAGGGTTTATTTGTTCACCACGCTTGCTGTGCTCGTGCTCCTCCGTGTGCACGCCCGTGCAGGGGCCTGGAGTTGGCCTGGGCCCGGTCTGTGCCCGTCAGGAGCTCAGCGTCTGGTTGAGGTGTTAACAGCTAATCAGATAGTCTGGTTAATGGATACGATGCACATGTCCAGTGCACAGATGAATGATTTTCTGAGATGTGGAATATAACATTGTACATTATTATTCACTTACATTTTAAATTTTTTTTATTTTTATTTTTTGGAGACGGAGCCTCACTCTGTCACCCAGGCTAGAGTCTGGAGTGCAGGGGCGGGATCTTGGCTCCCTGCAACCTCCGCCTCCCGGGTTTAAGTGATTCTCCTACCTCAGCCTCCCGAACAGCTGGGATTATAGGCGTGCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTCACCACATTGGCCAGTCTGGTCTCACTCCTGACTTCAGTTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTACGATTACAGGCATGAGCCACTGTGCCCGGCCCAGTTACATTTTTAATGGCTGAAAAAGGATCTTTTATCATCATCTGCATCAGCTTGAGTCATTGTGGATCTTGGCACATGGAGAGTTTTTTTTTTTTTAATTTATTTATTTATTTTTAATTATACTTTAAGTTCTAGAGCTTTTTGAAAAAACTTTCTGGTTTATAAAAATGTTGGATAATGATGAGAATTGGAATAATGGCCAGTTTTGTAGTTTGATGTTTACTGGGTGCTGCCTACCACCAGGCATCGTTCTGAGCACCCATTTAATCCTCACTGAAACCCTGTGCCAAGGCAGGTGGTTAGTGGCCCCAGTTTGTAGACAAGGAAGCCGGGTGTGGTGGCTCACACCTGTATTCTCAGTACTTTGGGAGGCTGAGGCGGGTGGGTCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAACAATTAGCCGGGTGTGGTGGCACACACCTGCAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAACTGAGATCGCACCATTGCACTCCAGCCTGGGCAATAAGAGCAAAACTCCATCTCCAAAAAAAAAAAAAAAAAAAAAAAAACCAAAAAAACCACGAGGAAACTGAGAAACAAGGTCAAATGCCCAGCACTCAGAGTGGCAGAGCCAGCAATGGAACTCGGGCAGAGCGCAGGGAAGCCTGTCACTTGCTTAAAAGATTACGTCCAGCGGTTTTCCAATGTGTGAGTGTCTTTGCACATGTTTGAAAACTGGTAAGAAAAGATGACTTATTGGAAGGGAGCAGATTGGTGGTTTTAATTGGGTGCCGACTATTCACTAAAAGTGAGCCAAGACACACCTGTGTGCACGCTTTGGTGGAGATATGCCTTTGGACATGCCAGTGGGGTTGGAGGCGATGCTGGGCATAGAGAGTGGGTGGCTGAGCCTCCTTCCTGAGCTGCTGTTTGTTTTGAGCTTAAGGGCCTGTAGAGACTCTGCCTCCTCTGCTGGTTGCCACCTCCTCTTTTTTTTTTCCTCAGAGATGGGGTCTCACTATGTTGTCCAGGGTGGTCTTAAACTCCTGACCTCGCACCTTGGCCTCCCAAAGTGCTGGGATTACAG
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Task1_train_16204
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This mutation occurs in IGHMBP2 (immunoglobulin mu DNA binding protein 2) on Chromosome 11. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Charcot-Marie-Tooth disease axonal type 2S
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AACATGGTGAAACCCCGTCTCTACTAAAAATACAAAACAATTAGCCGGGTGTGGTGGCACACACCTGCAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAACTGAGATCGCACCATTGCACTCCAGCCTGGGCAATAAGAGCAAAACTCCATCTCCAAAAAAAAAAAAAAAAAAAAAAAAACCAAAAAAACCACGAGGAAACTGAGAAACAAGGTCAAATGCCCAGCACTCAGAGTGGCAGAGCCAGCAATGGAACTCGGGCAGAGCGCAGGGAAGCCTGTCACTTGCTTAAAAGATTACGTCCAGCGGTTTTCCAATGTGTGAGTGTCTTTGCACATGTTTGAAAACTGGTAAGAAAAGATGACTTATTGGAAGGGAGCAGATTGGTGGTTTTAATTGGGTGCCGACTATTCACTAAAAGTGAGCCAAGACACACCTGTGTGCACGCTTTGGTGGAGATATGCCTTTGGACATGCCAGTGGGGTTGGAGGCGATGCTGGGCATAGAGAGTGGGTGGCTGAGCCTCCTTCCTGAGCTGCTGTTTGTTTTGAGCTTAAGGGCCTGTAGAGACTCTGCCTCCTCTGCTGGTTGCCACCTCCTCTTTTTTTTTTCCTCAGAGATGGGGTCTCACTATGTTGTCCAGGGTGGTCTTAAACTCCTGACCTCGCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTACTTGGCCAGCGTCTCACTTTTAATAGTGGAGCTGTGGCTGGGTGCAGCGGCTCATGTCTGTTATCCTAGCGCTTTGGGAGGCCAAGGGGGGAGGATCACTTGAACCCAGGAGTTTGAGGTCAGTCTGGGCAACATAGCAAGACCCAGTCTCTACAAAAAATAGAAGAAATTAGCTGGGCATGGTGATGCATGCCTGCAGTCTCAGCTACTTGGGAGGCTGAGCCAGGAAGATAGCTTGAGCCCAGAAAGTCACGAAACACCAGGAGTGTGGTCTAGGTCTTGCTGCTCGCCACACAGAAAGCCAGTTACTGAGGACAAGTATTGCCAAGGAAGAGGCTTTATAATCAGATGGTGCAGCCGAGGAGATGAGAGCTCATCCTCAAACCCATCTCCCTGACTAAAACTAGGGGTTTATATAACAGGGAAGAAATGTAGCAATGTGTAAAAAACAGGAACTAGGGAGGGCAAGGAGGCACCTGTAGTGGTCTGGTGATTTTCAGATCTTTGATATTTTTTTGAGAGGCCTCAATGTCCTTTTCTGAGGAAGAAACTCACATAAATAAGTTTGAAGCTTTAACAGCAGATGGTCAATTTCTCTTTATCCAAAAACAACTGTCCATGGGACTATTGAGCCGGTTTCTCCATGATCCTGCCACTGCGCTCCAGCCTGGGCCATAGAGCAATTTGTTTCAAAAAAAAAAAAGAAAGAAAGAAAAATATAGTGGAGCTACAGTGTTCGGGAGACAACTGTGAGTCCATTTGAAACGGGAAGGGTTCCCTTGTCCCCCTCGCAGGGCGTGGGATGGGGGAGTGGCTCGCTTCTTCAGTGTCCTGCTGCTCAGACCTGCAGGGGAGCATACAGATGGGCAGGCTGTGGGCTCTGACCTCATGGCAGTGTCTAGGGGTGAATGTTTACAGCTCTGTGAGTTACAGGGTGCTCTCTTAGTTTGCCGTCTATAGGTGGCTTATGTTAACCAACTCAATTAGATCCCCTTCCTTGTCACAAGGACAGAGGGCTTTCTGTATCCTGGGTTCTTGCCTTGGGGTACCGGAAGAATCGGATCACACGTGGGCTTGGAAAATGAATGCAAGATTTGATTGAGAGCACGTGTGTACATGCCTTGTGCTTCTTTCTACCTTTAAGGCTTTTTGTTGTTTTAGTGTCAACTTCAGTGGTTTGATTACAAAGTAAATGACCAGATCCTAACTTGCGGTTCCCAGGTTCTGTGCTGCGCCCCCTCCAACATCGCCGTGGACAATCTGGTGGAGCGCCTGGCTCTGTGTAAGCAGCGGATTCTGCGCCTGGGACACCCTGCCCGCCTCCTGGAGTCCATTCAGCAGCACTCCCTGGATGCGGTTTTAGCGCGGAGCGACAGTGCCCAGATTGTTGCAGATATCAGGAAGGACATCGACCAGGTCTTTGTAGGTGTCATGGCCAGTGTCCATGTGGGGCGTGGGCTTCTGATCTGCAGTCTTTTTAAGGAGCAAATTTATCTGTCTGCATTCCTCTTGACCTTCTCTTGCTTCTGTCGATTCCTTTAATAATTTTAAAAATTGGGCTGCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTGACAGAGTTTTGCTCTCATTGCTCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGACTGCAGGTGCGTGTCACCACGCCTGGCTAATTTTTCTATTTTTAGTTGAGACAGGGTTTCATCATACTGGTCAGGCTGGTCTTGAATTCCTGACCTCAGGTGCTCTGCCCGCCTCGGCCTCTCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCTTTGTTTTTGTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCCGGAGTGTAGTGCTGCTGTCTTGGCTCACTGCAGGCTCCGCCTCCCGGGGTCAAGTGATTCTTGTGCCTCACCCTCCCAAGTAGCTAGGACTACAGGCATGTGCCACCACACCCAACCAATTTTTTTATTTTTAGTAGAGACGGGGGTTTCGCCATGTGGGCCAGGCTGGTCTCGAACTCCTAACCTCAAGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGATTACAGGTGTGAGCTACTGTACCCAGCCAGGGCTGCCCATTTTTGATAGAGAACTATACTTAGCATTTAACAGAGTCTCAACTGTCTTCAGAGCACTTGGTTAGTAGGTGTGAGGAATTGTAAAGAAAACATTTTCCGGCCGGATACAGTGGCTCACACGTGCAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGAACAGTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCCACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGAGCATGGTGGCGGGCACCTGTATTCCCAGCCACTTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCATGGTCACTCCACTGCACTCCAGCCTCGGTGACAAAGCAAGACTCCGTCTCAAAAAAAAAACCAAACATTTTCCTGGGTGTCTTTCTGTCTGGTCCTGTTGTCTTGCTAGTAGTGGCAATGGGAGAAAAGTAGCCTGAACATAAACATTGAAAAAATTGGCATCCTCCTAGAGCTTTCCGTCCATTCCACCTTCTCCTTGTGAAAGAGGACACCAGTCGGCTGGAGAAGTAGGGTGGTGGTAGGTTTCTTCCATTTGAGAGGGCCTTTTCCCCCCAGCCCGACACTCCGACACTTTTGAGCTCTTTGGTTCTCCCGTGGACGCTTTGTTGTAGTGTCTGTGCTCACGTCCTGTCCTGTGTGCTCACTGTCGGTACTGGTACTCCTTGGTGTCTTAGTCTCAGAGGAGTGATGGCAGCAGGGAGGGTGCTGGAGCCAGTCTTTGCTCTAATGTCTGTGCTCACATCTTGTCCTGTGTGCTTACGGTCAGCACCTGCACCCTCGGTGTCCTAACCTCGGAGGAGTGGCGGCAGCAGAGAGGGTGCTGGGAGCCAGTCTTTGCTATGGGCCCGTGGCATCGAGGCTGCTTGCGTGGCTGCTTGCATGGCAGCGTGGGGATGGGCCGCCTGCTGGGAGGGGGAGGAAGGATAGATGCATGTCATGCAGGTTCGAGGTGGTGGAGGAATATGCATGATGTTTGCTCATCACAAATGTGGGTGATTTCATTTCCTGTTGAAATTGGTGCTTTTGAGGATTTTCTTTCTCTGTAAATTATACACAGTAAAATACCTCCTGTCACCCCTGCTAAAACTCCATCCCCCAAAGTAG
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AACATGGTGAAACCCCGTCTCTACTAAAAATACAAAACAATTAGCCGGGTGTGGTGGCACACACCTGCAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAACTGAGATCGCACCATTGCACTCCAGCCTGGGCAATAAGAGCAAAACTCCATCTCCAAAAAAAAAAAAAAAAAAAAAAAAACCAAAAAAACCACGAGGAAACTGAGAAACAAGGTCAAATGCCCAGCACTCAGAGTGGCAGAGCCAGCAATGGAACTCGGGCAGAGCGCAGGGAAGCCTGTCACTTGCTTAAAAGATTACGTCCAGCGGTTTTCCAATGTGTGAGTGTCTTTGCACATGTTTGAAAACTGGTAAGAAAAGATGACTTATTGGAAGGGAGCAGATTGGTGGTTTTAATTGGGTGCCGACTATTCACTAAAAGTGAGCCAAGACACACCTGTGTGCACGCTTTGGTGGAGATATGCCTTTGGACATGCCAGTGGGGTTGGAGGCGATGCTGGGCATAGAGAGTGGGTGGCTGAGCCTCCTTCCTGAGCTGCTGTTTGTTTTGAGCTTAAGGGCCTGTAGAGACTCTGCCTCCTCTGCTGGTTGCCACCTCCTCTTTTTTTTTTCCTCAGAGATGGGGTCTCACTATGTTGTCCAGGGTGGTCTTAAACTCCTGACCTCGCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTACTTGGCCAGCGTCTCACTTTTAATAGTGGAGCTGTGGCTGGGTGCAGCGGCTCATGTCTGTTATCCTAGCGCTTTGGGAGGCCAAGGGGGGAGGATCACTTGAACCCAGGAGTTTGAGGTCAGTCTGGGCAACATAGCAAGACCCAGTCTCTACAAAAAATAGAAGAAATTAGCTGGGCATGGTGATGCATGCCTGCAGTCTCAGCTACTTGGGAGGCTGAGCCAGGAAGATAGCTTGAGCCCAGAAAGTCACGAAACACCAGGAGTGTGGTCTAGGTCTTGCTGCTCGCCACACAGAAAGCCAGTTACTGAGGACAAGTATTGCCAAGGAAGAGGCTTTATAATCAGATGGTGCAGCCGAGGAGATGAGAGCTCATCCTCAAACCCATCTCCCTGACTAAAACTAGGGGTTTATATAACAGGGAAGAAATGTAGCAATGTGTAAAAAACAGGAACTAGGGAGGGCAAGGAGGCACCTGTAGTGGTCTGGTGATTTTCAGATCTTTGATATTTTTTTGAGAGGCCTCAATGTCCTTTTCTGAGGAAGAAACTCACATAAATAAGTTTGAAGCTTTAACAGCAGATGGTCAATTTCTCTTTATCCAAAAACAACTGTCCATGGGACTATTGAGCCGGTTTCTCCATGATCCTGCCACTGCGCTCCAGCCTGGGCCATAGAGCAATTTGTTTCAAAAAAAAAAAAGAAAGAAAGAAAAATATAGTGGAGCTACAGTGTTCGGGAGACAACTGTGAGTCCATTTGAAACGGGAAGGGTTCCCTTGTCCCCCTCGCAGGGCGTGGGATGGGGGAGTGGCTCGCTTCTTCAGTGTCCTGCTGCTCAGACCTGCAGGGGAGCATACAGATGGGCAGGCTGTGGGCTCTGACCTCATGGCAGTGTCTAGGGGTGAATGTTTACAGCTCTGTGAGTTACAGGGTGCTCTCTTAGTTTGCCGTCTATAGGTGGCTTATGTTAACCAACTCAATTAGATCCCCTTCCTTGTCACAAGGACAGAGGGCTTTCTGTATCCTGGGTTCTTGCCTTGGGGTACCGGAAGAATCGGATCACACGTGGGCTTGGAAAATGAATGCAAGATTTGATTGAGAGCACGTGTGTACATGCCTTGTGCTTCTTTCTACCTTTAAGGCTTTTTGTTGTTTTAGTGTCAACTTCAGTGGTTTGATTACAAAGTAAATGACCAGATCCTAACTTGCGGTTCCCAGGTTCTGTGCTGCGCCCCCTCCAACATCGCCGTGGACAATCTGGTGGAGCGCCTGGCTCTGTGTAAGCAGCGGATTCTGTGCCTGGGACACCCTGCCCGCCTCCTGGAGTCCATTCAGCAGCACTCCCTGGATGCGGTTTTAGCGCGGAGCGACAGTGCCCAGATTGTTGCAGATATCAGGAAGGACATCGACCAGGTCTTTGTAGGTGTCATGGCCAGTGTCCATGTGGGGCGTGGGCTTCTGATCTGCAGTCTTTTTAAGGAGCAAATTTATCTGTCTGCATTCCTCTTGACCTTCTCTTGCTTCTGTCGATTCCTTTAATAATTTTAAAAATTGGGCTGCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTGACAGAGTTTTGCTCTCATTGCTCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGACTGCAGGTGCGTGTCACCACGCCTGGCTAATTTTTCTATTTTTAGTTGAGACAGGGTTTCATCATACTGGTCAGGCTGGTCTTGAATTCCTGACCTCAGGTGCTCTGCCCGCCTCGGCCTCTCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCTTTGTTTTTGTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCCGGAGTGTAGTGCTGCTGTCTTGGCTCACTGCAGGCTCCGCCTCCCGGGGTCAAGTGATTCTTGTGCCTCACCCTCCCAAGTAGCTAGGACTACAGGCATGTGCCACCACACCCAACCAATTTTTTTATTTTTAGTAGAGACGGGGGTTTCGCCATGTGGGCCAGGCTGGTCTCGAACTCCTAACCTCAAGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGATTACAGGTGTGAGCTACTGTACCCAGCCAGGGCTGCCCATTTTTGATAGAGAACTATACTTAGCATTTAACAGAGTCTCAACTGTCTTCAGAGCACTTGGTTAGTAGGTGTGAGGAATTGTAAAGAAAACATTTTCCGGCCGGATACAGTGGCTCACACGTGCAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGAACAGTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCCACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGAGCATGGTGGCGGGCACCTGTATTCCCAGCCACTTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCATGGTCACTCCACTGCACTCCAGCCTCGGTGACAAAGCAAGACTCCGTCTCAAAAAAAAAACCAAACATTTTCCTGGGTGTCTTTCTGTCTGGTCCTGTTGTCTTGCTAGTAGTGGCAATGGGAGAAAAGTAGCCTGAACATAAACATTGAAAAAATTGGCATCCTCCTAGAGCTTTCCGTCCATTCCACCTTCTCCTTGTGAAAGAGGACACCAGTCGGCTGGAGAAGTAGGGTGGTGGTAGGTTTCTTCCATTTGAGAGGGCCTTTTCCCCCCAGCCCGACACTCCGACACTTTTGAGCTCTTTGGTTCTCCCGTGGACGCTTTGTTGTAGTGTCTGTGCTCACGTCCTGTCCTGTGTGCTCACTGTCGGTACTGGTACTCCTTGGTGTCTTAGTCTCAGAGGAGTGATGGCAGCAGGGAGGGTGCTGGAGCCAGTCTTTGCTCTAATGTCTGTGCTCACATCTTGTCCTGTGTGCTTACGGTCAGCACCTGCACCCTCGGTGTCCTAACCTCGGAGGAGTGGCGGCAGCAGAGAGGGTGCTGGGAGCCAGTCTTTGCTATGGGCCCGTGGCATCGAGGCTGCTTGCGTGGCTGCTTGCATGGCAGCGTGGGGATGGGCCGCCTGCTGGGAGGGGGAGGAAGGATAGATGCATGTCATGCAGGTTCGAGGTGGTGGAGGAATATGCATGATGTTTGCTCATCACAAATGTGGGTGATTTCATTTCCTGTTGAAATTGGTGCTTTTGAGGATTTTCTTTCTCTGTAAATTATACACAGTAAAATACCTCCTGTCACCCCTGCTAAAACTCCATCCCCCAAAGTAG
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Task1_train_16205
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This is a variant in IGHMBP2 (immunoglobulin mu DNA binding protein 2), located on Chromosome 11. Is this mutation a likely cause of disease or not?
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Pathogenic; Autosomal recessive distal spinal muscular atrophy 1
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AACATGGTGAAACCCCGTCTCTACTAAAAATACAAAACAATTAGCCGGGTGTGGTGGCACACACCTGCAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAACTGAGATCGCACCATTGCACTCCAGCCTGGGCAATAAGAGCAAAACTCCATCTCCAAAAAAAAAAAAAAAAAAAAAAAAACCAAAAAAACCACGAGGAAACTGAGAAACAAGGTCAAATGCCCAGCACTCAGAGTGGCAGAGCCAGCAATGGAACTCGGGCAGAGCGCAGGGAAGCCTGTCACTTGCTTAAAAGATTACGTCCAGCGGTTTTCCAATGTGTGAGTGTCTTTGCACATGTTTGAAAACTGGTAAGAAAAGATGACTTATTGGAAGGGAGCAGATTGGTGGTTTTAATTGGGTGCCGACTATTCACTAAAAGTGAGCCAAGACACACCTGTGTGCACGCTTTGGTGGAGATATGCCTTTGGACATGCCAGTGGGGTTGGAGGCGATGCTGGGCATAGAGAGTGGGTGGCTGAGCCTCCTTCCTGAGCTGCTGTTTGTTTTGAGCTTAAGGGCCTGTAGAGACTCTGCCTCCTCTGCTGGTTGCCACCTCCTCTTTTTTTTTTCCTCAGAGATGGGGTCTCACTATGTTGTCCAGGGTGGTCTTAAACTCCTGACCTCGCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTACTTGGCCAGCGTCTCACTTTTAATAGTGGAGCTGTGGCTGGGTGCAGCGGCTCATGTCTGTTATCCTAGCGCTTTGGGAGGCCAAGGGGGGAGGATCACTTGAACCCAGGAGTTTGAGGTCAGTCTGGGCAACATAGCAAGACCCAGTCTCTACAAAAAATAGAAGAAATTAGCTGGGCATGGTGATGCATGCCTGCAGTCTCAGCTACTTGGGAGGCTGAGCCAGGAAGATAGCTTGAGCCCAGAAAGTCACGAAACACCAGGAGTGTGGTCTAGGTCTTGCTGCTCGCCACACAGAAAGCCAGTTACTGAGGACAAGTATTGCCAAGGAAGAGGCTTTATAATCAGATGGTGCAGCCGAGGAGATGAGAGCTCATCCTCAAACCCATCTCCCTGACTAAAACTAGGGGTTTATATAACAGGGAAGAAATGTAGCAATGTGTAAAAAACAGGAACTAGGGAGGGCAAGGAGGCACCTGTAGTGGTCTGGTGATTTTCAGATCTTTGATATTTTTTTGAGAGGCCTCAATGTCCTTTTCTGAGGAAGAAACTCACATAAATAAGTTTGAAGCTTTAACAGCAGATGGTCAATTTCTCTTTATCCAAAAACAACTGTCCATGGGACTATTGAGCCGGTTTCTCCATGATCCTGCCACTGCGCTCCAGCCTGGGCCATAGAGCAATTTGTTTCAAAAAAAAAAAAGAAAGAAAGAAAAATATAGTGGAGCTACAGTGTTCGGGAGACAACTGTGAGTCCATTTGAAACGGGAAGGGTTCCCTTGTCCCCCTCGCAGGGCGTGGGATGGGGGAGTGGCTCGCTTCTTCAGTGTCCTGCTGCTCAGACCTGCAGGGGAGCATACAGATGGGCAGGCTGTGGGCTCTGACCTCATGGCAGTGTCTAGGGGTGAATGTTTACAGCTCTGTGAGTTACAGGGTGCTCTCTTAGTTTGCCGTCTATAGGTGGCTTATGTTAACCAACTCAATTAGATCCCCTTCCTTGTCACAAGGACAGAGGGCTTTCTGTATCCTGGGTTCTTGCCTTGGGGTACCGGAAGAATCGGATCACACGTGGGCTTGGAAAATGAATGCAAGATTTGATTGAGAGCACGTGTGTACATGCCTTGTGCTTCTTTCTACCTTTAAGGCTTTTTGTTGTTTTAGTGTCAACTTCAGTGGTTTGATTACAAAGTAAATGACCAGATCCTAACTTGCGGTTCCCAGGTTCTGTGCTGCGCCCCCTCCAACATCGCCGTGGACAATCTGGTGGAGCGCCTGGCTCTGTGTAAGCAGCGGATTCTGCGCCTGGGACACCCTGCCCGCCTCCTGGAGTCCATTCAGCAGCACTCCCTGGATGCGGTTTTAGCGCGGAGCGACAGTGCCCAGATTGTTGCAGATATCAGGAAGGACATCGACCAGGTCTTTGTAGGTGTCATGGCCAGTGTCCATGTGGGGCGTGGGCTTCTGATCTGCAGTCTTTTTAAGGAGCAAATTTATCTGTCTGCATTCCTCTTGACCTTCTCTTGCTTCTGTCGATTCCTTTAATAATTTTAAAAATTGGGCTGCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTGACAGAGTTTTGCTCTCATTGCTCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGACTGCAGGTGCGTGTCACCACGCCTGGCTAATTTTTCTATTTTTAGTTGAGACAGGGTTTCATCATACTGGTCAGGCTGGTCTTGAATTCCTGACCTCAGGTGCTCTGCCCGCCTCGGCCTCTCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCTTTGTTTTTGTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCCGGAGTGTAGTGCTGCTGTCTTGGCTCACTGCAGGCTCCGCCTCCCGGGGTCAAGTGATTCTTGTGCCTCACCCTCCCAAGTAGCTAGGACTACAGGCATGTGCCACCACACCCAACCAATTTTTTTATTTTTAGTAGAGACGGGGGTTTCGCCATGTGGGCCAGGCTGGTCTCGAACTCCTAACCTCAAGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGATTACAGGTGTGAGCTACTGTACCCAGCCAGGGCTGCCCATTTTTGATAGAGAACTATACTTAGCATTTAACAGAGTCTCAACTGTCTTCAGAGCACTTGGTTAGTAGGTGTGAGGAATTGTAAAGAAAACATTTTCCGGCCGGATACAGTGGCTCACACGTGCAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGAACAGTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCCACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGAGCATGGTGGCGGGCACCTGTATTCCCAGCCACTTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCATGGTCACTCCACTGCACTCCAGCCTCGGTGACAAAGCAAGACTCCGTCTCAAAAAAAAAACCAAACATTTTCCTGGGTGTCTTTCTGTCTGGTCCTGTTGTCTTGCTAGTAGTGGCAATGGGAGAAAAGTAGCCTGAACATAAACATTGAAAAAATTGGCATCCTCCTAGAGCTTTCCGTCCATTCCACCTTCTCCTTGTGAAAGAGGACACCAGTCGGCTGGAGAAGTAGGGTGGTGGTAGGTTTCTTCCATTTGAGAGGGCCTTTTCCCCCCAGCCCGACACTCCGACACTTTTGAGCTCTTTGGTTCTCCCGTGGACGCTTTGTTGTAGTGTCTGTGCTCACGTCCTGTCCTGTGTGCTCACTGTCGGTACTGGTACTCCTTGGTGTCTTAGTCTCAGAGGAGTGATGGCAGCAGGGAGGGTGCTGGAGCCAGTCTTTGCTCTAATGTCTGTGCTCACATCTTGTCCTGTGTGCTTACGGTCAGCACCTGCACCCTCGGTGTCCTAACCTCGGAGGAGTGGCGGCAGCAGAGAGGGTGCTGGGAGCCAGTCTTTGCTATGGGCCCGTGGCATCGAGGCTGCTTGCGTGGCTGCTTGCATGGCAGCGTGGGGATGGGCCGCCTGCTGGGAGGGGGAGGAAGGATAGATGCATGTCATGCAGGTTCGAGGTGGTGGAGGAATATGCATGATGTTTGCTCATCACAAATGTGGGTGATTTCATTTCCTGTTGAAATTGGTGCTTTTGAGGATTTTCTTTCTCTGTAAATTATACACAGTAAAATACCTCCTGTCACCCCTGCTAAAACTCCATCCCCCAAAGTAG
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AACATGGTGAAACCCCGTCTCTACTAAAAATACAAAACAATTAGCCGGGTGTGGTGGCACACACCTGCAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAACTGAGATCGCACCATTGCACTCCAGCCTGGGCAATAAGAGCAAAACTCCATCTCCAAAAAAAAAAAAAAAAAAAAAAAAACCAAAAAAACCACGAGGAAACTGAGAAACAAGGTCAAATGCCCAGCACTCAGAGTGGCAGAGCCAGCAATGGAACTCGGGCAGAGCGCAGGGAAGCCTGTCACTTGCTTAAAAGATTACGTCCAGCGGTTTTCCAATGTGTGAGTGTCTTTGCACATGTTTGAAAACTGGTAAGAAAAGATGACTTATTGGAAGGGAGCAGATTGGTGGTTTTAATTGGGTGCCGACTATTCACTAAAAGTGAGCCAAGACACACCTGTGTGCACGCTTTGGTGGAGATATGCCTTTGGACATGCCAGTGGGGTTGGAGGCGATGCTGGGCATAGAGAGTGGGTGGCTGAGCCTCCTTCCTGAGCTGCTGTTTGTTTTGAGCTTAAGGGCCTGTAGAGACTCTGCCTCCTCTGCTGGTTGCCACCTCCTCTTTTTTTTTTCCTCAGAGATGGGGTCTCACTATGTTGTCCAGGGTGGTCTTAAACTCCTGACCTCGCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTACTTGGCCAGCGTCTCACTTTTAATAGTGGAGCTGTGGCTGGGTGCAGCGGCTCATGTCTGTTATCCTAGCGCTTTGGGAGGCCAAGGGGGGAGGATCACTTGAACCCAGGAGTTTGAGGTCAGTCTGGGCAACATAGCAAGACCCAGTCTCTACAAAAAATAGAAGAAATTAGCTGGGCATGGTGATGCATGCCTGCAGTCTCAGCTACTTGGGAGGCTGAGCCAGGAAGATAGCTTGAGCCCAGAAAGTCACGAAACACCAGGAGTGTGGTCTAGGTCTTGCTGCTCGCCACACAGAAAGCCAGTTACTGAGGACAAGTATTGCCAAGGAAGAGGCTTTATAATCAGATGGTGCAGCCGAGGAGATGAGAGCTCATCCTCAAACCCATCTCCCTGACTAAAACTAGGGGTTTATATAACAGGGAAGAAATGTAGCAATGTGTAAAAAACAGGAACTAGGGAGGGCAAGGAGGCACCTGTAGTGGTCTGGTGATTTTCAGATCTTTGATATTTTTTTGAGAGGCCTCAATGTCCTTTTCTGAGGAAGAAACTCACATAAATAAGTTTGAAGCTTTAACAGCAGATGGTCAATTTCTCTTTATCCAAAAACAACTGTCCATGGGACTATTGAGCCGGTTTCTCCATGATCCTGCCACTGCGCTCCAGCCTGGGCCATAGAGCAATTTGTTTCAAAAAAAAAAAAGAAAGAAAGAAAAATATAGTGGAGCTACAGTGTTCGGGAGACAACTGTGAGTCCATTTGAAACGGGAAGGGTTCCCTTGTCCCCCTCGCAGGGCGTGGGATGGGGGAGTGGCTCGCTTCTTCAGTGTCCTGCTGCTCAGACCTGCAGGGGAGCATACAGATGGGCAGGCTGTGGGCTCTGACCTCATGGCAGTGTCTAGGGGTGAATGTTTACAGCTCTGTGAGTTACAGGGTGCTCTCTTAGTTTGCCGTCTATAGGTGGCTTATGTTAACCAACTCAATTAGATCCCCTTCCTTGTCACAAGGACAGAGGGCTTTCTGTATCCTGGGTTCTTGCCTTGGGGTACCGGAAGAATCGGATCACACGTGGGCTTGGAAAATGAATGCAAGATTTGATTGAGAGCACGTGTGTACATGCCTTGTGCTTCTTTCTACCTTTAAGGCTTTTTGTTGTTTTAGTGTCAACTTCAGTGGTTTGATTACAAAGTAAATGACCAGATCCTAACTTGCGGTTCCCAGGTTCTGTGCTGCGCCCCCTCCAACATCGCCGTGGACAATCTGGTGGAGCGCCTGGCTCTGTGTAAGCAGCGGATTCTGTGCCTGGGACACCCTGCCCGCCTCCTGGAGTCCATTCAGCAGCACTCCCTGGATGCGGTTTTAGCGCGGAGCGACAGTGCCCAGATTGTTGCAGATATCAGGAAGGACATCGACCAGGTCTTTGTAGGTGTCATGGCCAGTGTCCATGTGGGGCGTGGGCTTCTGATCTGCAGTCTTTTTAAGGAGCAAATTTATCTGTCTGCATTCCTCTTGACCTTCTCTTGCTTCTGTCGATTCCTTTAATAATTTTAAAAATTGGGCTGCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTGACAGAGTTTTGCTCTCATTGCTCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGACTGCAGGTGCGTGTCACCACGCCTGGCTAATTTTTCTATTTTTAGTTGAGACAGGGTTTCATCATACTGGTCAGGCTGGTCTTGAATTCCTGACCTCAGGTGCTCTGCCCGCCTCGGCCTCTCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCTTTGTTTTTGTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCCGGAGTGTAGTGCTGCTGTCTTGGCTCACTGCAGGCTCCGCCTCCCGGGGTCAAGTGATTCTTGTGCCTCACCCTCCCAAGTAGCTAGGACTACAGGCATGTGCCACCACACCCAACCAATTTTTTTATTTTTAGTAGAGACGGGGGTTTCGCCATGTGGGCCAGGCTGGTCTCGAACTCCTAACCTCAAGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGATTACAGGTGTGAGCTACTGTACCCAGCCAGGGCTGCCCATTTTTGATAGAGAACTATACTTAGCATTTAACAGAGTCTCAACTGTCTTCAGAGCACTTGGTTAGTAGGTGTGAGGAATTGTAAAGAAAACATTTTCCGGCCGGATACAGTGGCTCACACGTGCAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGAACAGTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCCACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGAGCATGGTGGCGGGCACCTGTATTCCCAGCCACTTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCATGGTCACTCCACTGCACTCCAGCCTCGGTGACAAAGCAAGACTCCGTCTCAAAAAAAAAACCAAACATTTTCCTGGGTGTCTTTCTGTCTGGTCCTGTTGTCTTGCTAGTAGTGGCAATGGGAGAAAAGTAGCCTGAACATAAACATTGAAAAAATTGGCATCCTCCTAGAGCTTTCCGTCCATTCCACCTTCTCCTTGTGAAAGAGGACACCAGTCGGCTGGAGAAGTAGGGTGGTGGTAGGTTTCTTCCATTTGAGAGGGCCTTTTCCCCCCAGCCCGACACTCCGACACTTTTGAGCTCTTTGGTTCTCCCGTGGACGCTTTGTTGTAGTGTCTGTGCTCACGTCCTGTCCTGTGTGCTCACTGTCGGTACTGGTACTCCTTGGTGTCTTAGTCTCAGAGGAGTGATGGCAGCAGGGAGGGTGCTGGAGCCAGTCTTTGCTCTAATGTCTGTGCTCACATCTTGTCCTGTGTGCTTACGGTCAGCACCTGCACCCTCGGTGTCCTAACCTCGGAGGAGTGGCGGCAGCAGAGAGGGTGCTGGGAGCCAGTCTTTGCTATGGGCCCGTGGCATCGAGGCTGCTTGCGTGGCTGCTTGCATGGCAGCGTGGGGATGGGCCGCCTGCTGGGAGGGGGAGGAAGGATAGATGCATGTCATGCAGGTTCGAGGTGGTGGAGGAATATGCATGATGTTTGCTCATCACAAATGTGGGTGATTTCATTTCCTGTTGAAATTGGTGCTTTTGAGGATTTTCTTTCTCTGTAAATTATACACAGTAAAATACCTCCTGTCACCCCTGCTAAAACTCCATCCCCCAAAGTAG
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Task1_train_16206
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Here is a variant affecting IGHMBP2 (immunoglobulin mu DNA binding protein 2) on Chromosome 11. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; not specified
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AACATGGTGAAACCCCGTCTCTACTAAAAATACAAAACAATTAGCCGGGTGTGGTGGCACACACCTGCAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAACTGAGATCGCACCATTGCACTCCAGCCTGGGCAATAAGAGCAAAACTCCATCTCCAAAAAAAAAAAAAAAAAAAAAAAAACCAAAAAAACCACGAGGAAACTGAGAAACAAGGTCAAATGCCCAGCACTCAGAGTGGCAGAGCCAGCAATGGAACTCGGGCAGAGCGCAGGGAAGCCTGTCACTTGCTTAAAAGATTACGTCCAGCGGTTTTCCAATGTGTGAGTGTCTTTGCACATGTTTGAAAACTGGTAAGAAAAGATGACTTATTGGAAGGGAGCAGATTGGTGGTTTTAATTGGGTGCCGACTATTCACTAAAAGTGAGCCAAGACACACCTGTGTGCACGCTTTGGTGGAGATATGCCTTTGGACATGCCAGTGGGGTTGGAGGCGATGCTGGGCATAGAGAGTGGGTGGCTGAGCCTCCTTCCTGAGCTGCTGTTTGTTTTGAGCTTAAGGGCCTGTAGAGACTCTGCCTCCTCTGCTGGTTGCCACCTCCTCTTTTTTTTTTCCTCAGAGATGGGGTCTCACTATGTTGTCCAGGGTGGTCTTAAACTCCTGACCTCGCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTACTTGGCCAGCGTCTCACTTTTAATAGTGGAGCTGTGGCTGGGTGCAGCGGCTCATGTCTGTTATCCTAGCGCTTTGGGAGGCCAAGGGGGGAGGATCACTTGAACCCAGGAGTTTGAGGTCAGTCTGGGCAACATAGCAAGACCCAGTCTCTACAAAAAATAGAAGAAATTAGCTGGGCATGGTGATGCATGCCTGCAGTCTCAGCTACTTGGGAGGCTGAGCCAGGAAGATAGCTTGAGCCCAGAAAGTCACGAAACACCAGGAGTGTGGTCTAGGTCTTGCTGCTCGCCACACAGAAAGCCAGTTACTGAGGACAAGTATTGCCAAGGAAGAGGCTTTATAATCAGATGGTGCAGCCGAGGAGATGAGAGCTCATCCTCAAACCCATCTCCCTGACTAAAACTAGGGGTTTATATAACAGGGAAGAAATGTAGCAATGTGTAAAAAACAGGAACTAGGGAGGGCAAGGAGGCACCTGTAGTGGTCTGGTGATTTTCAGATCTTTGATATTTTTTTGAGAGGCCTCAATGTCCTTTTCTGAGGAAGAAACTCACATAAATAAGTTTGAAGCTTTAACAGCAGATGGTCAATTTCTCTTTATCCAAAAACAACTGTCCATGGGACTATTGAGCCGGTTTCTCCATGATCCTGCCACTGCGCTCCAGCCTGGGCCATAGAGCAATTTGTTTCAAAAAAAAAAAAGAAAGAAAGAAAAATATAGTGGAGCTACAGTGTTCGGGAGACAACTGTGAGTCCATTTGAAACGGGAAGGGTTCCCTTGTCCCCCTCGCAGGGCGTGGGATGGGGGAGTGGCTCGCTTCTTCAGTGTCCTGCTGCTCAGACCTGCAGGGGAGCATACAGATGGGCAGGCTGTGGGCTCTGACCTCATGGCAGTGTCTAGGGGTGAATGTTTACAGCTCTGTGAGTTACAGGGTGCTCTCTTAGTTTGCCGTCTATAGGTGGCTTATGTTAACCAACTCAATTAGATCCCCTTCCTTGTCACAAGGACAGAGGGCTTTCTGTATCCTGGGTTCTTGCCTTGGGGTACCGGAAGAATCGGATCACACGTGGGCTTGGAAAATGAATGCAAGATTTGATTGAGAGCACGTGTGTACATGCCTTGTGCTTCTTTCTACCTTTAAGGCTTTTTGTTGTTTTAGTGTCAACTTCAGTGGTTTGATTACAAAGTAAATGACCAGATCCTAACTTGCGGTTCCCAGGTTCTGTGCTGCGCCCCCTCCAACATCGCCGTGGACAATCTGGTGGAGCGCCTGGCTCTGTGTAAGCAGCGGATTCTGCGCCTGGGACACCCTGCCCGCCTCCTGGAGTCCATTCAGCAGCACTCCCTGGATGCGGTTTTAGCGCGGAGCGACAGTGCCCAGATTGTTGCAGATATCAGGAAGGACATCGACCAGGTCTTTGTAGGTGTCATGGCCAGTGTCCATGTGGGGCGTGGGCTTCTGATCTGCAGTCTTTTTAAGGAGCAAATTTATCTGTCTGCATTCCTCTTGACCTTCTCTTGCTTCTGTCGATTCCTTTAATAATTTTAAAAATTGGGCTGCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTGACAGAGTTTTGCTCTCATTGCTCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGACTGCAGGTGCGTGTCACCACGCCTGGCTAATTTTTCTATTTTTAGTTGAGACAGGGTTTCATCATACTGGTCAGGCTGGTCTTGAATTCCTGACCTCAGGTGCTCTGCCCGCCTCGGCCTCTCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCTTTGTTTTTGTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCCGGAGTGTAGTGCTGCTGTCTTGGCTCACTGCAGGCTCCGCCTCCCGGGGTCAAGTGATTCTTGTGCCTCACCCTCCCAAGTAGCTAGGACTACAGGCATGTGCCACCACACCCAACCAATTTTTTTATTTTTAGTAGAGACGGGGGTTTCGCCATGTGGGCCAGGCTGGTCTCGAACTCCTAACCTCAAGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGATTACAGGTGTGAGCTACTGTACCCAGCCAGGGCTGCCCATTTTTGATAGAGAACTATACTTAGCATTTAACAGAGTCTCAACTGTCTTCAGAGCACTTGGTTAGTAGGTGTGAGGAATTGTAAAGAAAACATTTTCCGGCCGGATACAGTGGCTCACACGTGCAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGAACAGTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCCACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGAGCATGGTGGCGGGCACCTGTATTCCCAGCCACTTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCATGGTCACTCCACTGCACTCCAGCCTCGGTGACAAAGCAAGACTCCGTCTCAAAAAAAAAACCAAACATTTTCCTGGGTGTCTTTCTGTCTGGTCCTGTTGTCTTGCTAGTAGTGGCAATGGGAGAAAAGTAGCCTGAACATAAACATTGAAAAAATTGGCATCCTCCTAGAGCTTTCCGTCCATTCCACCTTCTCCTTGTGAAAGAGGACACCAGTCGGCTGGAGAAGTAGGGTGGTGGTAGGTTTCTTCCATTTGAGAGGGCCTTTTCCCCCCAGCCCGACACTCCGACACTTTTGAGCTCTTTGGTTCTCCCGTGGACGCTTTGTTGTAGTGTCTGTGCTCACGTCCTGTCCTGTGTGCTCACTGTCGGTACTGGTACTCCTTGGTGTCTTAGTCTCAGAGGAGTGATGGCAGCAGGGAGGGTGCTGGAGCCAGTCTTTGCTCTAATGTCTGTGCTCACATCTTGTCCTGTGTGCTTACGGTCAGCACCTGCACCCTCGGTGTCCTAACCTCGGAGGAGTGGCGGCAGCAGAGAGGGTGCTGGGAGCCAGTCTTTGCTATGGGCCCGTGGCATCGAGGCTGCTTGCGTGGCTGCTTGCATGGCAGCGTGGGGATGGGCCGCCTGCTGGGAGGGGGAGGAAGGATAGATGCATGTCATGCAGGTTCGAGGTGGTGGAGGAATATGCATGATGTTTGCTCATCACAAATGTGGGTGATTTCATTTCCTGTTGAAATTGGTGCTTTTGAGGATTTTCTTTCTCTGTAAATTATACACAGTAAAATACCTCCTGTCACCCCTGCTAAAACTCCATCCCCCAAAGTAG
|
AACATGGTGAAACCCCGTCTCTACTAAAAATACAAAACAATTAGCCGGGTGTGGTGGCACACACCTGCAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAACTGAGATCGCACCATTGCACTCCAGCCTGGGCAATAAGAGCAAAACTCCATCTCCAAAAAAAAAAAAAAAAAAAAAAAAACCAAAAAAACCACGAGGAAACTGAGAAACAAGGTCAAATGCCCAGCACTCAGAGTGGCAGAGCCAGCAATGGAACTCGGGCAGAGCGCAGGGAAGCCTGTCACTTGCTTAAAAGATTACGTCCAGCGGTTTTCCAATGTGTGAGTGTCTTTGCACATGTTTGAAAACTGGTAAGAAAAGATGACTTATTGGAAGGGAGCAGATTGGTGGTTTTAATTGGGTGCCGACTATTCACTAAAAGTGAGCCAAGACACACCTGTGTGCACGCTTTGGTGGAGATATGCCTTTGGACATGCCAGTGGGGTTGGAGGCGATGCTGGGCATAGAGAGTGGGTGGCTGAGCCTCCTTCCTGAGCTGCTGTTTGTTTTGAGCTTAAGGGCCTGTAGAGACTCTGCCTCCTCTGCTGGTTGCCACCTCCTCTTTTTTTTTTCCTCAGAGATGGGGTCTCACTATGTTGTCCAGGGTGGTCTTAAACTCCTGACCTCGCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTACTTGGCCAGCGTCTCACTTTTAATAGTGGAGCTGTGGCTGGGTGCAGCGGCTCATGTCTGTTATCCTAGCGCTTTGGGAGGCCAAGGGGGGAGGATCACTTGAACCCAGGAGTTTGAGGTCAGTCTGGGCAACATAGCAAGACCCAGTCTCTACAAAAAATAGAAGAAATTAGCTGGGCATGGTGATGCATGCCTGCAGTCTCAGCTACTTGGGAGGCTGAGCCAGGAAGATAGCTTGAGCCCAGAAAGTCACGAAACACCAGGAGTGTGGTCTAGGTCTTGCTGCTCGCCACACAGAAAGCCAGTTACTGAGGACAAGTATTGCCAAGGAAGAGGCTTTATAATCAGATGGTGCAGCCGAGGAGATGAGAGCTCATCCTCAAACCCATCTCCCTGACTAAAACTAGGGGTTTATATAACAGGGAAGAAATGTAGCAATGTGTAAAAAACAGGAACTAGGGAGGGCAAGGAGGCACCTGTAGTGGTCTGGTGATTTTCAGATCTTTGATATTTTTTTGAGAGGCCTCAATGTCCTTTTCTGAGGAAGAAACTCACATAAATAAGTTTGAAGCTTTAACAGCAGATGGTCAATTTCTCTTTATCCAAAAACAACTGTCCATGGGACTATTGAGCCGGTTTCTCCATGATCCTGCCACTGCGCTCCAGCCTGGGCCATAGAGCAATTTGTTTCAAAAAAAAAAAAGAAAGAAAGAAAAATATAGTGGAGCTACAGTGTTCGGGAGACAACTGTGAGTCCATTTGAAACGGGAAGGGTTCCCTTGTCCCCCTCGCAGGGCGTGGGATGGGGGAGTGGCTCGCTTCTTCAGTGTCCTGCTGCTCAGACCTGCAGGGGAGCATACAGATGGGCAGGCTGTGGGCTCTGACCTCATGGCAGTGTCTAGGGGTGAATGTTTACAGCTCTGTGAGTTACAGGGTGCTCTCTTAGTTTGCCGTCTATAGGTGGCTTATGTTAACCAACTCAATTAGATCCCCTTCCTTGTCACAAGGACAGAGGGCTTTCTGTATCCTGGGTTCTTGCCTTGGGGTACCGGAAGAATCGGATCACACGTGGGCTTGGAAAATGAATGCAAGATTTGATTGAGAGCACGTGTGTACATGCCTTGTGCTTCTTTCTACCTTTAAGGCTTTTTGTTGTTTTAGTGTCAACTTCAGTGGTTTGATTACAAAGTAAATGACCAGATCCTAACTTGCGGTTCCCAGGTTCTGTGCTGCGCCCCCTCCAACATCGCCGTGGACAATCTGGTGGAGCGCCTGGCTCTGTGTAAGCAGCGGATTCTGTGCCTGGGACACCCTGCCCGCCTCCTGGAGTCCATTCAGCAGCACTCCCTGGATGCGGTTTTAGCGCGGAGCGACAGTGCCCAGATTGTTGCAGATATCAGGAAGGACATCGACCAGGTCTTTGTAGGTGTCATGGCCAGTGTCCATGTGGGGCGTGGGCTTCTGATCTGCAGTCTTTTTAAGGAGCAAATTTATCTGTCTGCATTCCTCTTGACCTTCTCTTGCTTCTGTCGATTCCTTTAATAATTTTAAAAATTGGGCTGCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTGACAGAGTTTTGCTCTCATTGCTCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGACTGCAGGTGCGTGTCACCACGCCTGGCTAATTTTTCTATTTTTAGTTGAGACAGGGTTTCATCATACTGGTCAGGCTGGTCTTGAATTCCTGACCTCAGGTGCTCTGCCCGCCTCGGCCTCTCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCTTTGTTTTTGTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCCGGAGTGTAGTGCTGCTGTCTTGGCTCACTGCAGGCTCCGCCTCCCGGGGTCAAGTGATTCTTGTGCCTCACCCTCCCAAGTAGCTAGGACTACAGGCATGTGCCACCACACCCAACCAATTTTTTTATTTTTAGTAGAGACGGGGGTTTCGCCATGTGGGCCAGGCTGGTCTCGAACTCCTAACCTCAAGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGATTACAGGTGTGAGCTACTGTACCCAGCCAGGGCTGCCCATTTTTGATAGAGAACTATACTTAGCATTTAACAGAGTCTCAACTGTCTTCAGAGCACTTGGTTAGTAGGTGTGAGGAATTGTAAAGAAAACATTTTCCGGCCGGATACAGTGGCTCACACGTGCAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGAACAGTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCCACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGAGCATGGTGGCGGGCACCTGTATTCCCAGCCACTTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCATGGTCACTCCACTGCACTCCAGCCTCGGTGACAAAGCAAGACTCCGTCTCAAAAAAAAAACCAAACATTTTCCTGGGTGTCTTTCTGTCTGGTCCTGTTGTCTTGCTAGTAGTGGCAATGGGAGAAAAGTAGCCTGAACATAAACATTGAAAAAATTGGCATCCTCCTAGAGCTTTCCGTCCATTCCACCTTCTCCTTGTGAAAGAGGACACCAGTCGGCTGGAGAAGTAGGGTGGTGGTAGGTTTCTTCCATTTGAGAGGGCCTTTTCCCCCCAGCCCGACACTCCGACACTTTTGAGCTCTTTGGTTCTCCCGTGGACGCTTTGTTGTAGTGTCTGTGCTCACGTCCTGTCCTGTGTGCTCACTGTCGGTACTGGTACTCCTTGGTGTCTTAGTCTCAGAGGAGTGATGGCAGCAGGGAGGGTGCTGGAGCCAGTCTTTGCTCTAATGTCTGTGCTCACATCTTGTCCTGTGTGCTTACGGTCAGCACCTGCACCCTCGGTGTCCTAACCTCGGAGGAGTGGCGGCAGCAGAGAGGGTGCTGGGAGCCAGTCTTTGCTATGGGCCCGTGGCATCGAGGCTGCTTGCGTGGCTGCTTGCATGGCAGCGTGGGGATGGGCCGCCTGCTGGGAGGGGGAGGAAGGATAGATGCATGTCATGCAGGTTCGAGGTGGTGGAGGAATATGCATGATGTTTGCTCATCACAAATGTGGGTGATTTCATTTCCTGTTGAAATTGGTGCTTTTGAGGATTTTCTTTCTCTGTAAATTATACACAGTAAAATACCTCCTGTCACCCCTGCTAAAACTCCATCCCCCAAAGTAG
|
Task1_train_16207
|
Given this context: Chromosome 11, gene IGHMBP2 (immunoglobulin mu DNA binding protein 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
|
Pathogenic; Inborn genetic diseases
|
ATTTTAAATAATAGAATGTAGCAACTCTGGAAGTCAGGTTCTCTTCCCACCCCGGGGTTTGTTGTTGTTGCCACTTGTTGTTTGTTTAGTGACTTTTCTGGACTAATTCTGTAAAATCTGTATTTTTTGTCTTGCGTGGCCACTAAAGTCTAATACAACTTAGTGGCCAGCTAGTGATTAGACAGAAATCCCCCTGAACTCCTGGAGCCATAAATGCCCCAGTCTTTGCTGAGTGGCTCTGTGTGTGTGCTTGGGCACACCTCCAACACAGAGCCAGGCTGTTTGTGACTCTCAGCTTTCACTTCCCGTTTGTGCAGTGCGTTGAGCTGAGCCACAGATGAGAGCTGAGGGCCTCCCGAGGTCTTTCCTGAGCCCTGTACATGTGTGTGGCCTTCTAGATTCCCAGGAATATGTTGGAGCTTTTCAAAGCCCCCTGAGGATATCTCATTCCCCAGCTTAAAACTTTGGTTATCCTATCATTTGCTCCGACCATTATTCTCTGTCTTAGAAAACTGTGATGTTCAACAATTACCTCTGATTGTTTTTGACAGACACCACCAGGGAAAAGGCTGTTTGTATTACATGAGCTCAGATAAAGTCTTTTGAGTGTGGTCTACCAGAGGATTCCCAGACAGATGAGATAAGCACAGTTTCTGGAGTGGGGCTTTTCAGGAATGCCAACCCTGTTCTGCACCCCCCGGGGCTGGCAGGTGCTGGTTTTCACCCTGACTTCAGGCTGAGGGTTTCAAGGCTGCCATAGGGATGGCTGGGAATAGGGCAGGTTTCAGTGCCACCGAGCTCCCGTGCTGACGGGGATTCAGATGCTTTTCTGGAATGAACACTTCCCTGATTGCTGCAGCCTTTGGCGAGTTTCCAGAGTTCTGAGAAAGTTGATTCTGACCATTTGCCGATGTCTTGTTGCTTTCGTGGAGGAGAGAATTCTCAGAGCTTGTGAGAGTCTCTTTGCTGACATCCTTCTCTGGCTTCAAGGACAGCACTTGCTGGAAATCAGGAGGCATCCCCTGAGCCCCACAAGGTCAGCTTGTGGCCTTTGTGGCCTTTCTGTTCCCTGCTGGTTGTTGGGGAACTAGAGTGAGTTCCTGGAAGTGCTTCTCCATCATGAAGTCTGGTTTCTCTCTGTACTGTGAAGTCACATCTGTGACCTAAACATGTCTCTTAATTATCCAAAGCCCAGCCAAGTTCTGTCTCCTCTGTGGGTGCTTTTTCTAGCCATCTCTGAAGAGTCAATCTTGAGAAATTTCTCAGTATGTCTTCATCATGGCATTATGTACATATCATTAGCATAATTCACTCAGATGGAAGGCAGAAAGGGTGGGAACTAACATTGATCACATTTATGGAAACCTGCCTTCTCGTGCTGGGCACTTTATATATGTTATCTCCCTTTGTGGTGCAATCTCATGACATGCAGTCATTGTCCATGTTTGTGGGTGAGGAAACAGGCTTAGGGGTGGGAGGCTCGCCTGAGGCCCCACACTGTTGGCTGGAGACAGCGTGGGGCCTGAGTCTTGCTCACAGCCTGAACGCTGCACTCTGCTGCTCCGCGTCCCAGGAAGGAAAAGCTGCTGCAGTGGGTTTGTGTTGCCAAATACATGGAGGCTTTTTTCTGGGTGAGTGCCCAGCAGTTGATTGTTCTGTATGTCCAAGAAAGTCACCTTAGAAAAGAATTAGGTTCTAAATTTAGAAAATAATTGAGTTACAATATTTAGAACTCAGACAGCATCCCTTGGGCTTGGGGTCACAGCCCCGAAGGGGTGATTAATTTTGCCAATTGAAGATCAGAGGGGCCTGTGGCCAGAGTACCCACTGCTTAAGACACAGGTGAGCTGGAACCATGAGTTTTAAAATGTCTTGGCCAAGTTTTTATTACAAGATACAAATTTATCCCACACAGTTGCAATGCAAGCCTTGATGAAACCCCAGCTTGATGGTGTCTCCTCTGGTGTGGCTGCGCTGTTGGGAAGCAGCTGTGCCCCTGGAGACTCCCGGCTCCCTGTTTCCACCAGGTGCGTCTGCCGATGGCCCCCTGAAGTTGCTGCCCGAGAGCTACTTCGACGTGGTGGTCATTGACGAGTGTGCCCAGGCCCTCGAGGCGAGCTGCTGGATCCCCCTGCTGAAGGCCAGAAAGTGCATCCTGGCGGGCGATCACAAGCAGCTGCCCCCCACCACAGTCTCTCACAAGTAAGACCCCTTTGCCTCACATGCCCTTCTCTGCCCCCGCCCTCCTGCGGTCCTTCCACGCTCAGCCAGGAGCCCCAGGCTCACCAGGAGCCCCTGCGGTGCCTCCTCGGTTTCTCGGCACAGCTCCTACCCCGTCTTACAGCATTCATTCATCTCAACGTCGCATCTGTGAGATCATGTACTCCCCGAGGGTGGGGTCGCATCACCTTCATCTTTGTAGCTTCAGAACTGGACACAGGGCCTGGCACGTTTCTGGTGTTCCGTCCCTGCTTGTTGAGTTGAATATCCCCTCATGAACCAGGCAGGTTTGATGGTAGAGTGCCGTGAGAGCCTTGGGCTGGGCTAACTGGCCTCTGGGTGGATGTGGGTTCTTTAGTCTTCAATCTGTAGACACATCCCTGGATGGAGGGCACTGGGCAGAGACTCAGCAAACCATGGTTCTGCCGTGCGGAGACACCGGAGCCCTGATGCAGTGGCCTGGCCCAGGCTGTCCTGGTGGAGACACTGGAGTCCTGATGCGGTGGCCTGGCCCAGGCTGTCCTGGTGGAGACACTGGAGCCCTGATGCAGTGGCCTGGCCCAGGCTGTCTTGGTGGAGAAAGTGCTGCCCGCCCCCCCAGCCCCCCTCTCACCTCTCCCCATACTACCCAGCACTCACTGCTTCAGCCACACAGGCCTCGCTGGCCCCTCTGCCTGGACCACTCCTGCCTGGGTGTGGCGGGCGTGCCCTCTCTCCAGATGAACCCTCTGCATGGTATCCCTTGACTGCCCTTACACGAGGCCTGTGAACAGGGCCTGGCACGTGGGCTGTCCTTGGACAAGTCCCTGTTCAGAAAGTTGTCCCTGAGGAATGAAACACTTCTGAGACTCCTGCATCCTGGCCCTCACTTCCACCGGGGGAAGATTGATTTCTTCAGATTTCGGTTGCCTTTTGAAACACTTCTCTGTTTCACTGTGGGTGTGTAGAAGCTATGAACTCGGAACTTTCGTTGTTTTCCGAGGACCGGAAGAAGATGTGCAAGAAATCCTGTCGAGTAGAATCTCATCACAGGGGCGTGGGCAGCCCAGGAGTTGGCGGGTATGTAGAGAGAGGTGTCAAAAATAGTAATTGAGAGTGAGCTTTGGGAGGAAGATGTTGGAAATAAAGATGGTGGAAGAAAGAGGAGTGCTGAGGAAAGGTGCTCTGAAAGATCGTCCTGGTGGGAGACACATGGGGATCTAGAGTGGAAATGTTACGGGATCTCTGGGGTGTTGATTTTTCTGGCTGGAAACCTCTGCGGCCGCAGCACCTTTGCCTCAGTTCTTGTCCTGCATCCAGGAAGAATGAGGTACGCAGATTAGTGAAGGGTGAAGAACAGTTTTATTTAGTGTTAGAACAGCTCAGAGTAGTGGGTAGCTCCTCTCTGTAGGCAGGTCATCCGTCGAGTGTTCAGCTGTCAGCAGAGGAGGCCCTGGAGAGGGTGGCTCCTCTCTGCAGGCAAGTCACTTGGACATCTCTGCAGGTCTCTGAAGCTCTCAGCAGAGAGCATAGATCCTCTCTGCCCTCTCCGTCCTCTGGCTGTCCTCTCGCCTTCTCTGACTGAGCCCAGGGCTTTTATGGACCTCAAGAGGGAAGGAAGGATGTGCCAATTGGTCCATGGGTGGCCATGGGCGGGCCTGGAATAGGTACCATGAGTCCTCACTCTGGTCCACAGGACTGGCAGCCCAGCTGCCAGCCTTCAGGCCCTTCCTGGCCTTCCACTGTCCCCTTCCACTCAGGACTCTGTCTGCCTCCCGCTGCCATTCATGGCCCTGGGGCTTGGCTCCAATCCCACTCTGAGATCCGAGTGGGTGCTGGGAGCTGAGAGAGGCCAGGCAGTGGAAGCAGACACCCATGACCCTGCAGGGATGGTGTG
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ATTTTAAATAATAGAATGTAGCAACTCTGGAAGTCAGGTTCTCTTCCCACCCCGGGGTTTGTTGTTGTTGCCACTTGTTGTTTGTTTAGTGACTTTTCTGGACTAATTCTGTAAAATCTGTATTTTTTGTCTTGCGTGGCCACTAAAGTCTAATACAACTTAGTGGCCAGCTAGTGATTAGACAGAAATCCCCCTGAACTCCTGGAGCCATAAATGCCCCAGTCTTTGCTGAGTGGCTCTGTGTGTGTGCTTGGGCACACCTCCAACACAGAGCCAGGCTGTTTGTGACTCTCAGCTTTCACTTCCCGTTTGTGCAGTGCGTTGAGCTGAGCCACAGATGAGAGCTGAGGGCCTCCCGAGGTCTTTCCTGAGCCCTGTACATGTGTGTGGCCTTCTAGATTCCCAGGAATATGTTGGAGCTTTTCAAAGCCCCCTGAGGATATCTCATTCCCCAGCTTAAAACTTTGGTTATCCTATCATTTGCTCCGACCATTATTCTCTGTCTTAGAAAACTGTGATGTTCAACAATTACCTCTGATTGTTTTTGACAGACACCACCAGGGAAAAGGCTGTTTGTATTACATGAGCTCAGATAAAGTCTTTTGAGTGTGGTCTACCAGAGGATTCCCAGACAGATGAGATAAGCACAGTTTCTGGAGTGGGGCTTTTCAGGAATGCCAACCCTGTTCTGCACCCCCCGGGGCTGGCAGGTGCTGGTTTTCACCCTGACTTCAGGCTGAGGGTTTCAAGGCTGCCATAGGGATGGCTGGGAATAGGGCAGGTTTCAGTGCCACCGAGCTCCCGTGCTGACGGGGATTCAGATGCTTTTCTGGAATGAACACTTCCCTGATTGCTGCAGCCTTTGGCGAGTTTCCAGAGTTCTGAGAAAGTTGATTCTGACCATTTGCCGATGTCTTGTTGCTTTCGTGGAGGAGAGAATTCTCAGAGCTTGTGAGAGTCTCTTTGCTGACATCCTTCTCTGGCTTCAAGGACAGCACTTGCTGGAAATCAGGAGGCATCCCCTGAGCCCCACAAGGTCAGCTTGTGGCCTTTGTGGCCTTTCTGTTCCCTGCTGGTTGTTGGGGAACTAGAGTGAGTTCCTGGAAGTGCTTCTCCATCATGAAGTCTGGTTTCTCTCTGTACTGTGAAGTCACATCTGTGACCTAAACATGTCTCTTAATTATCCAAAGCCCAGCCAAGTTCTGTCTCCTCTGTGGGTGCTTTTTCTAGCCATCTCTGAAGAGTCAATCTTGAGAAATTTCTCAGTATGTCTTCATCATGGCATTATGTACATATCATTAGCATAATTCACTCAGATGGAAGGCAGAAAGGGTGGGAACTAACATTGATCACATTTATGGAAACCTGCCTTCTCGTGCTGGGCACTTTATATATGTTATCTCCCTTTGTGGTGCAATCTCATGACATGCAGTCATTGTCCATGTTTGTGGGTGAGGAAACAGGCTTAGGGGTGGGAGGCTCGCCTGAGGCCCCACACTGTTGGCTGGAGACAGCGTGGGGCCTGAGTCTTGCTCACAGCCTGAACGCTGCACTCTGCTGCTCCGCGTCCCAGGAAGGAAAAGCTGCTGCAGTGGGTTTGTGTTGCCAAATACATGGAGGCTTTTTTCTGGGTGAGTGCCCAGCAGTTGATTGTTCTGTATGTCCAAGAAAGTCACCTTAGAAAAGAATTAGGTTCTAAATTTAGAAAATAATTGAGTTACAATATTTAGAACTCAGACAGCATCCCTTGGGCTTGGGGTCACAGCCCCGAAGGGGTGATTAATTTTGCCAATTGAAGATCAGAGGGGCCTGTGGCCAGAGTACCCACTGCTTAAGACACAGGTGAGCTGGAACCATGAGTTTTAAAATGTCTTGGCCAAGTTTTTATTACAAGATACAAATTTATCCCACACAGTTGCAATGCAAGCCTTGATGAAACCCCAGCTTGATGGTGTCTCCTCTGGTGTGGCTGCGCTGTTGGGAAGCAGCTGTGCCCCTGGAGACTCCCGGCTCCCTGTTTCCACCAGGTGCGTCTGCCGATGGCCCCCCGAAGTTGCTGCCCGAGAGCTACTTCGACGTGGTGGTCATTGACGAGTGTGCCCAGGCCCTCGAGGCGAGCTGCTGGATCCCCCTGCTGAAGGCCAGAAAGTGCATCCTGGCGGGCGATCACAAGCAGCTGCCCCCCACCACAGTCTCTCACAAGTAAGACCCCTTTGCCTCACATGCCCTTCTCTGCCCCCGCCCTCCTGCGGTCCTTCCACGCTCAGCCAGGAGCCCCAGGCTCACCAGGAGCCCCTGCGGTGCCTCCTCGGTTTCTCGGCACAGCTCCTACCCCGTCTTACAGCATTCATTCATCTCAACGTCGCATCTGTGAGATCATGTACTCCCCGAGGGTGGGGTCGCATCACCTTCATCTTTGTAGCTTCAGAACTGGACACAGGGCCTGGCACGTTTCTGGTGTTCCGTCCCTGCTTGTTGAGTTGAATATCCCCTCATGAACCAGGCAGGTTTGATGGTAGAGTGCCGTGAGAGCCTTGGGCTGGGCTAACTGGCCTCTGGGTGGATGTGGGTTCTTTAGTCTTCAATCTGTAGACACATCCCTGGATGGAGGGCACTGGGCAGAGACTCAGCAAACCATGGTTCTGCCGTGCGGAGACACCGGAGCCCTGATGCAGTGGCCTGGCCCAGGCTGTCCTGGTGGAGACACTGGAGTCCTGATGCGGTGGCCTGGCCCAGGCTGTCCTGGTGGAGACACTGGAGCCCTGATGCAGTGGCCTGGCCCAGGCTGTCTTGGTGGAGAAAGTGCTGCCCGCCCCCCCAGCCCCCCTCTCACCTCTCCCCATACTACCCAGCACTCACTGCTTCAGCCACACAGGCCTCGCTGGCCCCTCTGCCTGGACCACTCCTGCCTGGGTGTGGCGGGCGTGCCCTCTCTCCAGATGAACCCTCTGCATGGTATCCCTTGACTGCCCTTACACGAGGCCTGTGAACAGGGCCTGGCACGTGGGCTGTCCTTGGACAAGTCCCTGTTCAGAAAGTTGTCCCTGAGGAATGAAACACTTCTGAGACTCCTGCATCCTGGCCCTCACTTCCACCGGGGGAAGATTGATTTCTTCAGATTTCGGTTGCCTTTTGAAACACTTCTCTGTTTCACTGTGGGTGTGTAGAAGCTATGAACTCGGAACTTTCGTTGTTTTCCGAGGACCGGAAGAAGATGTGCAAGAAATCCTGTCGAGTAGAATCTCATCACAGGGGCGTGGGCAGCCCAGGAGTTGGCGGGTATGTAGAGAGAGGTGTCAAAAATAGTAATTGAGAGTGAGCTTTGGGAGGAAGATGTTGGAAATAAAGATGGTGGAAGAAAGAGGAGTGCTGAGGAAAGGTGCTCTGAAAGATCGTCCTGGTGGGAGACACATGGGGATCTAGAGTGGAAATGTTACGGGATCTCTGGGGTGTTGATTTTTCTGGCTGGAAACCTCTGCGGCCGCAGCACCTTTGCCTCAGTTCTTGTCCTGCATCCAGGAAGAATGAGGTACGCAGATTAGTGAAGGGTGAAGAACAGTTTTATTTAGTGTTAGAACAGCTCAGAGTAGTGGGTAGCTCCTCTCTGTAGGCAGGTCATCCGTCGAGTGTTCAGCTGTCAGCAGAGGAGGCCCTGGAGAGGGTGGCTCCTCTCTGCAGGCAAGTCACTTGGACATCTCTGCAGGTCTCTGAAGCTCTCAGCAGAGAGCATAGATCCTCTCTGCCCTCTCCGTCCTCTGGCTGTCCTCTCGCCTTCTCTGACTGAGCCCAGGGCTTTTATGGACCTCAAGAGGGAAGGAAGGATGTGCCAATTGGTCCATGGGTGGCCATGGGCGGGCCTGGAATAGGTACCATGAGTCCTCACTCTGGTCCACAGGACTGGCAGCCCAGCTGCCAGCCTTCAGGCCCTTCCTGGCCTTCCACTGTCCCCTTCCACTCAGGACTCTGTCTGCCTCCCGCTGCCATTCATGGCCCTGGGGCTTGGCTCCAATCCCACTCTGAGATCCGAGTGGGTGCTGGGAGCTGAGAGAGGCCAGGCAGTGGAAGCAGACACCCATGACCCTGCAGGGATGGTGTG
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Task1_train_16208
|
A mutation on Chromosome 11 affecting IGHMBP2 (immunoglobulin mu DNA binding protein 2) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Autosomal recessive distal spinal muscular atrophy 1
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ATTTTAAATAATAGAATGTAGCAACTCTGGAAGTCAGGTTCTCTTCCCACCCCGGGGTTTGTTGTTGTTGCCACTTGTTGTTTGTTTAGTGACTTTTCTGGACTAATTCTGTAAAATCTGTATTTTTTGTCTTGCGTGGCCACTAAAGTCTAATACAACTTAGTGGCCAGCTAGTGATTAGACAGAAATCCCCCTGAACTCCTGGAGCCATAAATGCCCCAGTCTTTGCTGAGTGGCTCTGTGTGTGTGCTTGGGCACACCTCCAACACAGAGCCAGGCTGTTTGTGACTCTCAGCTTTCACTTCCCGTTTGTGCAGTGCGTTGAGCTGAGCCACAGATGAGAGCTGAGGGCCTCCCGAGGTCTTTCCTGAGCCCTGTACATGTGTGTGGCCTTCTAGATTCCCAGGAATATGTTGGAGCTTTTCAAAGCCCCCTGAGGATATCTCATTCCCCAGCTTAAAACTTTGGTTATCCTATCATTTGCTCCGACCATTATTCTCTGTCTTAGAAAACTGTGATGTTCAACAATTACCTCTGATTGTTTTTGACAGACACCACCAGGGAAAAGGCTGTTTGTATTACATGAGCTCAGATAAAGTCTTTTGAGTGTGGTCTACCAGAGGATTCCCAGACAGATGAGATAAGCACAGTTTCTGGAGTGGGGCTTTTCAGGAATGCCAACCCTGTTCTGCACCCCCCGGGGCTGGCAGGTGCTGGTTTTCACCCTGACTTCAGGCTGAGGGTTTCAAGGCTGCCATAGGGATGGCTGGGAATAGGGCAGGTTTCAGTGCCACCGAGCTCCCGTGCTGACGGGGATTCAGATGCTTTTCTGGAATGAACACTTCCCTGATTGCTGCAGCCTTTGGCGAGTTTCCAGAGTTCTGAGAAAGTTGATTCTGACCATTTGCCGATGTCTTGTTGCTTTCGTGGAGGAGAGAATTCTCAGAGCTTGTGAGAGTCTCTTTGCTGACATCCTTCTCTGGCTTCAAGGACAGCACTTGCTGGAAATCAGGAGGCATCCCCTGAGCCCCACAAGGTCAGCTTGTGGCCTTTGTGGCCTTTCTGTTCCCTGCTGGTTGTTGGGGAACTAGAGTGAGTTCCTGGAAGTGCTTCTCCATCATGAAGTCTGGTTTCTCTCTGTACTGTGAAGTCACATCTGTGACCTAAACATGTCTCTTAATTATCCAAAGCCCAGCCAAGTTCTGTCTCCTCTGTGGGTGCTTTTTCTAGCCATCTCTGAAGAGTCAATCTTGAGAAATTTCTCAGTATGTCTTCATCATGGCATTATGTACATATCATTAGCATAATTCACTCAGATGGAAGGCAGAAAGGGTGGGAACTAACATTGATCACATTTATGGAAACCTGCCTTCTCGTGCTGGGCACTTTATATATGTTATCTCCCTTTGTGGTGCAATCTCATGACATGCAGTCATTGTCCATGTTTGTGGGTGAGGAAACAGGCTTAGGGGTGGGAGGCTCGCCTGAGGCCCCACACTGTTGGCTGGAGACAGCGTGGGGCCTGAGTCTTGCTCACAGCCTGAACGCTGCACTCTGCTGCTCCGCGTCCCAGGAAGGAAAAGCTGCTGCAGTGGGTTTGTGTTGCCAAATACATGGAGGCTTTTTTCTGGGTGAGTGCCCAGCAGTTGATTGTTCTGTATGTCCAAGAAAGTCACCTTAGAAAAGAATTAGGTTCTAAATTTAGAAAATAATTGAGTTACAATATTTAGAACTCAGACAGCATCCCTTGGGCTTGGGGTCACAGCCCCGAAGGGGTGATTAATTTTGCCAATTGAAGATCAGAGGGGCCTGTGGCCAGAGTACCCACTGCTTAAGACACAGGTGAGCTGGAACCATGAGTTTTAAAATGTCTTGGCCAAGTTTTTATTACAAGATACAAATTTATCCCACACAGTTGCAATGCAAGCCTTGATGAAACCCCAGCTTGATGGTGTCTCCTCTGGTGTGGCTGCGCTGTTGGGAAGCAGCTGTGCCCCTGGAGACTCCCGGCTCCCTGTTTCCACCAGGTGCGTCTGCCGATGGCCCCCTGAAGTTGCTGCCCGAGAGCTACTTCGACGTGGTGGTCATTGACGAGTGTGCCCAGGCCCTCGAGGCGAGCTGCTGGATCCCCCTGCTGAAGGCCAGAAAGTGCATCCTGGCGGGCGATCACAAGCAGCTGCCCCCCACCACAGTCTCTCACAAGTAAGACCCCTTTGCCTCACATGCCCTTCTCTGCCCCCGCCCTCCTGCGGTCCTTCCACGCTCAGCCAGGAGCCCCAGGCTCACCAGGAGCCCCTGCGGTGCCTCCTCGGTTTCTCGGCACAGCTCCTACCCCGTCTTACAGCATTCATTCATCTCAACGTCGCATCTGTGAGATCATGTACTCCCCGAGGGTGGGGTCGCATCACCTTCATCTTTGTAGCTTCAGAACTGGACACAGGGCCTGGCACGTTTCTGGTGTTCCGTCCCTGCTTGTTGAGTTGAATATCCCCTCATGAACCAGGCAGGTTTGATGGTAGAGTGCCGTGAGAGCCTTGGGCTGGGCTAACTGGCCTCTGGGTGGATGTGGGTTCTTTAGTCTTCAATCTGTAGACACATCCCTGGATGGAGGGCACTGGGCAGAGACTCAGCAAACCATGGTTCTGCCGTGCGGAGACACCGGAGCCCTGATGCAGTGGCCTGGCCCAGGCTGTCCTGGTGGAGACACTGGAGTCCTGATGCGGTGGCCTGGCCCAGGCTGTCCTGGTGGAGACACTGGAGCCCTGATGCAGTGGCCTGGCCCAGGCTGTCTTGGTGGAGAAAGTGCTGCCCGCCCCCCCAGCCCCCCTCTCACCTCTCCCCATACTACCCAGCACTCACTGCTTCAGCCACACAGGCCTCGCTGGCCCCTCTGCCTGGACCACTCCTGCCTGGGTGTGGCGGGCGTGCCCTCTCTCCAGATGAACCCTCTGCATGGTATCCCTTGACTGCCCTTACACGAGGCCTGTGAACAGGGCCTGGCACGTGGGCTGTCCTTGGACAAGTCCCTGTTCAGAAAGTTGTCCCTGAGGAATGAAACACTTCTGAGACTCCTGCATCCTGGCCCTCACTTCCACCGGGGGAAGATTGATTTCTTCAGATTTCGGTTGCCTTTTGAAACACTTCTCTGTTTCACTGTGGGTGTGTAGAAGCTATGAACTCGGAACTTTCGTTGTTTTCCGAGGACCGGAAGAAGATGTGCAAGAAATCCTGTCGAGTAGAATCTCATCACAGGGGCGTGGGCAGCCCAGGAGTTGGCGGGTATGTAGAGAGAGGTGTCAAAAATAGTAATTGAGAGTGAGCTTTGGGAGGAAGATGTTGGAAATAAAGATGGTGGAAGAAAGAGGAGTGCTGAGGAAAGGTGCTCTGAAAGATCGTCCTGGTGGGAGACACATGGGGATCTAGAGTGGAAATGTTACGGGATCTCTGGGGTGTTGATTTTTCTGGCTGGAAACCTCTGCGGCCGCAGCACCTTTGCCTCAGTTCTTGTCCTGCATCCAGGAAGAATGAGGTACGCAGATTAGTGAAGGGTGAAGAACAGTTTTATTTAGTGTTAGAACAGCTCAGAGTAGTGGGTAGCTCCTCTCTGTAGGCAGGTCATCCGTCGAGTGTTCAGCTGTCAGCAGAGGAGGCCCTGGAGAGGGTGGCTCCTCTCTGCAGGCAAGTCACTTGGACATCTCTGCAGGTCTCTGAAGCTCTCAGCAGAGAGCATAGATCCTCTCTGCCCTCTCCGTCCTCTGGCTGTCCTCTCGCCTTCTCTGACTGAGCCCAGGGCTTTTATGGACCTCAAGAGGGAAGGAAGGATGTGCCAATTGGTCCATGGGTGGCCATGGGCGGGCCTGGAATAGGTACCATGAGTCCTCACTCTGGTCCACAGGACTGGCAGCCCAGCTGCCAGCCTTCAGGCCCTTCCTGGCCTTCCACTGTCCCCTTCCACTCAGGACTCTGTCTGCCTCCCGCTGCCATTCATGGCCCTGGGGCTTGGCTCCAATCCCACTCTGAGATCCGAGTGGGTGCTGGGAGCTGAGAGAGGCCAGGCAGTGGAAGCAGACACCCATGACCCTGCAGGGATGGTGTG
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ATTTTAAATAATAGAATGTAGCAACTCTGGAAGTCAGGTTCTCTTCCCACCCCGGGGTTTGTTGTTGTTGCCACTTGTTGTTTGTTTAGTGACTTTTCTGGACTAATTCTGTAAAATCTGTATTTTTTGTCTTGCGTGGCCACTAAAGTCTAATACAACTTAGTGGCCAGCTAGTGATTAGACAGAAATCCCCCTGAACTCCTGGAGCCATAAATGCCCCAGTCTTTGCTGAGTGGCTCTGTGTGTGTGCTTGGGCACACCTCCAACACAGAGCCAGGCTGTTTGTGACTCTCAGCTTTCACTTCCCGTTTGTGCAGTGCGTTGAGCTGAGCCACAGATGAGAGCTGAGGGCCTCCCGAGGTCTTTCCTGAGCCCTGTACATGTGTGTGGCCTTCTAGATTCCCAGGAATATGTTGGAGCTTTTCAAAGCCCCCTGAGGATATCTCATTCCCCAGCTTAAAACTTTGGTTATCCTATCATTTGCTCCGACCATTATTCTCTGTCTTAGAAAACTGTGATGTTCAACAATTACCTCTGATTGTTTTTGACAGACACCACCAGGGAAAAGGCTGTTTGTATTACATGAGCTCAGATAAAGTCTTTTGAGTGTGGTCTACCAGAGGATTCCCAGACAGATGAGATAAGCACAGTTTCTGGAGTGGGGCTTTTCAGGAATGCCAACCCTGTTCTGCACCCCCCGGGGCTGGCAGGTGCTGGTTTTCACCCTGACTTCAGGCTGAGGGTTTCAAGGCTGCCATAGGGATGGCTGGGAATAGGGCAGGTTTCAGTGCCACCGAGCTCCCGTGCTGACGGGGATTCAGATGCTTTTCTGGAATGAACACTTCCCTGATTGCTGCAGCCTTTGGCGAGTTTCCAGAGTTCTGAGAAAGTTGATTCTGACCATTTGCCGATGTCTTGTTGCTTTCGTGGAGGAGAGAATTCTCAGAGCTTGTGAGAGTCTCTTTGCTGACATCCTTCTCTGGCTTCAAGGACAGCACTTGCTGGAAATCAGGAGGCATCCCCTGAGCCCCACAAGGTCAGCTTGTGGCCTTTGTGGCCTTTCTGTTCCCTGCTGGTTGTTGGGGAACTAGAGTGAGTTCCTGGAAGTGCTTCTCCATCATGAAGTCTGGTTTCTCTCTGTACTGTGAAGTCACATCTGTGACCTAAACATGTCTCTTAATTATCCAAAGCCCAGCCAAGTTCTGTCTCCTCTGTGGGTGCTTTTTCTAGCCATCTCTGAAGAGTCAATCTTGAGAAATTTCTCAGTATGTCTTCATCATGGCATTATGTACATATCATTAGCATAATTCACTCAGATGGAAGGCAGAAAGGGTGGGAACTAACATTGATCACATTTATGGAAACCTGCCTTCTCGTGCTGGGCACTTTATATATGTTATCTCCCTTTGTGGTGCAATCTCATGACATGCAGTCATTGTCCATGTTTGTGGGTGAGGAAACAGGCTTAGGGGTGGGAGGCTCGCCTGAGGCCCCACACTGTTGGCTGGAGACAGCGTGGGGCCTGAGTCTTGCTCACAGCCTGAACGCTGCACTCTGCTGCTCCGCGTCCCAGGAAGGAAAAGCTGCTGCAGTGGGTTTGTGTTGCCAAATACATGGAGGCTTTTTTCTGGGTGAGTGCCCAGCAGTTGATTGTTCTGTATGTCCAAGAAAGTCACCTTAGAAAAGAATTAGGTTCTAAATTTAGAAAATAATTGAGTTACAATATTTAGAACTCAGACAGCATCCCTTGGGCTTGGGGTCACAGCCCCGAAGGGGTGATTAATTTTGCCAATTGAAGATCAGAGGGGCCTGTGGCCAGAGTACCCACTGCTTAAGACACAGGTGAGCTGGAACCATGAGTTTTAAAATGTCTTGGCCAAGTTTTTATTACAAGATACAAATTTATCCCACACAGTTGCAATGCAAGCCTTGATGAAACCCCAGCTTGATGGTGTCTCCTCTGGTGTGGCTGCGCTGTTGGGAAGCAGCTGTGCCCCTGGAGACTCCCGGCTCCCTGTTTCCACCAGGTGCGTCTGCCGATGGCCCCCCGAAGTTGCTGCCCGAGAGCTACTTCGACGTGGTGGTCATTGACGAGTGTGCCCAGGCCCTCGAGGCGAGCTGCTGGATCCCCCTGCTGAAGGCCAGAAAGTGCATCCTGGCGGGCGATCACAAGCAGCTGCCCCCCACCACAGTCTCTCACAAGTAAGACCCCTTTGCCTCACATGCCCTTCTCTGCCCCCGCCCTCCTGCGGTCCTTCCACGCTCAGCCAGGAGCCCCAGGCTCACCAGGAGCCCCTGCGGTGCCTCCTCGGTTTCTCGGCACAGCTCCTACCCCGTCTTACAGCATTCATTCATCTCAACGTCGCATCTGTGAGATCATGTACTCCCCGAGGGTGGGGTCGCATCACCTTCATCTTTGTAGCTTCAGAACTGGACACAGGGCCTGGCACGTTTCTGGTGTTCCGTCCCTGCTTGTTGAGTTGAATATCCCCTCATGAACCAGGCAGGTTTGATGGTAGAGTGCCGTGAGAGCCTTGGGCTGGGCTAACTGGCCTCTGGGTGGATGTGGGTTCTTTAGTCTTCAATCTGTAGACACATCCCTGGATGGAGGGCACTGGGCAGAGACTCAGCAAACCATGGTTCTGCCGTGCGGAGACACCGGAGCCCTGATGCAGTGGCCTGGCCCAGGCTGTCCTGGTGGAGACACTGGAGTCCTGATGCGGTGGCCTGGCCCAGGCTGTCCTGGTGGAGACACTGGAGCCCTGATGCAGTGGCCTGGCCCAGGCTGTCTTGGTGGAGAAAGTGCTGCCCGCCCCCCCAGCCCCCCTCTCACCTCTCCCCATACTACCCAGCACTCACTGCTTCAGCCACACAGGCCTCGCTGGCCCCTCTGCCTGGACCACTCCTGCCTGGGTGTGGCGGGCGTGCCCTCTCTCCAGATGAACCCTCTGCATGGTATCCCTTGACTGCCCTTACACGAGGCCTGTGAACAGGGCCTGGCACGTGGGCTGTCCTTGGACAAGTCCCTGTTCAGAAAGTTGTCCCTGAGGAATGAAACACTTCTGAGACTCCTGCATCCTGGCCCTCACTTCCACCGGGGGAAGATTGATTTCTTCAGATTTCGGTTGCCTTTTGAAACACTTCTCTGTTTCACTGTGGGTGTGTAGAAGCTATGAACTCGGAACTTTCGTTGTTTTCCGAGGACCGGAAGAAGATGTGCAAGAAATCCTGTCGAGTAGAATCTCATCACAGGGGCGTGGGCAGCCCAGGAGTTGGCGGGTATGTAGAGAGAGGTGTCAAAAATAGTAATTGAGAGTGAGCTTTGGGAGGAAGATGTTGGAAATAAAGATGGTGGAAGAAAGAGGAGTGCTGAGGAAAGGTGCTCTGAAAGATCGTCCTGGTGGGAGACACATGGGGATCTAGAGTGGAAATGTTACGGGATCTCTGGGGTGTTGATTTTTCTGGCTGGAAACCTCTGCGGCCGCAGCACCTTTGCCTCAGTTCTTGTCCTGCATCCAGGAAGAATGAGGTACGCAGATTAGTGAAGGGTGAAGAACAGTTTTATTTAGTGTTAGAACAGCTCAGAGTAGTGGGTAGCTCCTCTCTGTAGGCAGGTCATCCGTCGAGTGTTCAGCTGTCAGCAGAGGAGGCCCTGGAGAGGGTGGCTCCTCTCTGCAGGCAAGTCACTTGGACATCTCTGCAGGTCTCTGAAGCTCTCAGCAGAGAGCATAGATCCTCTCTGCCCTCTCCGTCCTCTGGCTGTCCTCTCGCCTTCTCTGACTGAGCCCAGGGCTTTTATGGACCTCAAGAGGGAAGGAAGGATGTGCCAATTGGTCCATGGGTGGCCATGGGCGGGCCTGGAATAGGTACCATGAGTCCTCACTCTGGTCCACAGGACTGGCAGCCCAGCTGCCAGCCTTCAGGCCCTTCCTGGCCTTCCACTGTCCCCTTCCACTCAGGACTCTGTCTGCCTCCCGCTGCCATTCATGGCCCTGGGGCTTGGCTCCAATCCCACTCTGAGATCCGAGTGGGTGCTGGGAGCTGAGAGAGGCCAGGCAGTGGAAGCAGACACCCATGACCCTGCAGGGATGGTGTG
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Task1_train_16209
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Here is a mutation in IGHMBP2 (immunoglobulin mu DNA binding protein 2) on Chromosome 11. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Charcot-Marie-Tooth disease axonal type 2S
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ATTTTAAATAATAGAATGTAGCAACTCTGGAAGTCAGGTTCTCTTCCCACCCCGGGGTTTGTTGTTGTTGCCACTTGTTGTTTGTTTAGTGACTTTTCTGGACTAATTCTGTAAAATCTGTATTTTTTGTCTTGCGTGGCCACTAAAGTCTAATACAACTTAGTGGCCAGCTAGTGATTAGACAGAAATCCCCCTGAACTCCTGGAGCCATAAATGCCCCAGTCTTTGCTGAGTGGCTCTGTGTGTGTGCTTGGGCACACCTCCAACACAGAGCCAGGCTGTTTGTGACTCTCAGCTTTCACTTCCCGTTTGTGCAGTGCGTTGAGCTGAGCCACAGATGAGAGCTGAGGGCCTCCCGAGGTCTTTCCTGAGCCCTGTACATGTGTGTGGCCTTCTAGATTCCCAGGAATATGTTGGAGCTTTTCAAAGCCCCCTGAGGATATCTCATTCCCCAGCTTAAAACTTTGGTTATCCTATCATTTGCTCCGACCATTATTCTCTGTCTTAGAAAACTGTGATGTTCAACAATTACCTCTGATTGTTTTTGACAGACACCACCAGGGAAAAGGCTGTTTGTATTACATGAGCTCAGATAAAGTCTTTTGAGTGTGGTCTACCAGAGGATTCCCAGACAGATGAGATAAGCACAGTTTCTGGAGTGGGGCTTTTCAGGAATGCCAACCCTGTTCTGCACCCCCCGGGGCTGGCAGGTGCTGGTTTTCACCCTGACTTCAGGCTGAGGGTTTCAAGGCTGCCATAGGGATGGCTGGGAATAGGGCAGGTTTCAGTGCCACCGAGCTCCCGTGCTGACGGGGATTCAGATGCTTTTCTGGAATGAACACTTCCCTGATTGCTGCAGCCTTTGGCGAGTTTCCAGAGTTCTGAGAAAGTTGATTCTGACCATTTGCCGATGTCTTGTTGCTTTCGTGGAGGAGAGAATTCTCAGAGCTTGTGAGAGTCTCTTTGCTGACATCCTTCTCTGGCTTCAAGGACAGCACTTGCTGGAAATCAGGAGGCATCCCCTGAGCCCCACAAGGTCAGCTTGTGGCCTTTGTGGCCTTTCTGTTCCCTGCTGGTTGTTGGGGAACTAGAGTGAGTTCCTGGAAGTGCTTCTCCATCATGAAGTCTGGTTTCTCTCTGTACTGTGAAGTCACATCTGTGACCTAAACATGTCTCTTAATTATCCAAAGCCCAGCCAAGTTCTGTCTCCTCTGTGGGTGCTTTTTCTAGCCATCTCTGAAGAGTCAATCTTGAGAAATTTCTCAGTATGTCTTCATCATGGCATTATGTACATATCATTAGCATAATTCACTCAGATGGAAGGCAGAAAGGGTGGGAACTAACATTGATCACATTTATGGAAACCTGCCTTCTCGTGCTGGGCACTTTATATATGTTATCTCCCTTTGTGGTGCAATCTCATGACATGCAGTCATTGTCCATGTTTGTGGGTGAGGAAACAGGCTTAGGGGTGGGAGGCTCGCCTGAGGCCCCACACTGTTGGCTGGAGACAGCGTGGGGCCTGAGTCTTGCTCACAGCCTGAACGCTGCACTCTGCTGCTCCGCGTCCCAGGAAGGAAAAGCTGCTGCAGTGGGTTTGTGTTGCCAAATACATGGAGGCTTTTTTCTGGGTGAGTGCCCAGCAGTTGATTGTTCTGTATGTCCAAGAAAGTCACCTTAGAAAAGAATTAGGTTCTAAATTTAGAAAATAATTGAGTTACAATATTTAGAACTCAGACAGCATCCCTTGGGCTTGGGGTCACAGCCCCGAAGGGGTGATTAATTTTGCCAATTGAAGATCAGAGGGGCCTGTGGCCAGAGTACCCACTGCTTAAGACACAGGTGAGCTGGAACCATGAGTTTTAAAATGTCTTGGCCAAGTTTTTATTACAAGATACAAATTTATCCCACACAGTTGCAATGCAAGCCTTGATGAAACCCCAGCTTGATGGTGTCTCCTCTGGTGTGGCTGCGCTGTTGGGAAGCAGCTGTGCCCCTGGAGACTCCCGGCTCCCTGTTTCCACCAGGTGCGTCTGCCGATGGCCCCCTGAAGTTGCTGCCCGAGAGCTACTTCGACGTGGTGGTCATTGACGAGTGTGCCCAGGCCCTCGAGGCGAGCTGCTGGATCCCCCTGCTGAAGGCCAGAAAGTGCATCCTGGCGGGCGATCACAAGCAGCTGCCCCCCACCACAGTCTCTCACAAGTAAGACCCCTTTGCCTCACATGCCCTTCTCTGCCCCCGCCCTCCTGCGGTCCTTCCACGCTCAGCCAGGAGCCCCAGGCTCACCAGGAGCCCCTGCGGTGCCTCCTCGGTTTCTCGGCACAGCTCCTACCCCGTCTTACAGCATTCATTCATCTCAACGTCGCATCTGTGAGATCATGTACTCCCCGAGGGTGGGGTCGCATCACCTTCATCTTTGTAGCTTCAGAACTGGACACAGGGCCTGGCACGTTTCTGGTGTTCCGTCCCTGCTTGTTGAGTTGAATATCCCCTCATGAACCAGGCAGGTTTGATGGTAGAGTGCCGTGAGAGCCTTGGGCTGGGCTAACTGGCCTCTGGGTGGATGTGGGTTCTTTAGTCTTCAATCTGTAGACACATCCCTGGATGGAGGGCACTGGGCAGAGACTCAGCAAACCATGGTTCTGCCGTGCGGAGACACCGGAGCCCTGATGCAGTGGCCTGGCCCAGGCTGTCCTGGTGGAGACACTGGAGTCCTGATGCGGTGGCCTGGCCCAGGCTGTCCTGGTGGAGACACTGGAGCCCTGATGCAGTGGCCTGGCCCAGGCTGTCTTGGTGGAGAAAGTGCTGCCCGCCCCCCCAGCCCCCCTCTCACCTCTCCCCATACTACCCAGCACTCACTGCTTCAGCCACACAGGCCTCGCTGGCCCCTCTGCCTGGACCACTCCTGCCTGGGTGTGGCGGGCGTGCCCTCTCTCCAGATGAACCCTCTGCATGGTATCCCTTGACTGCCCTTACACGAGGCCTGTGAACAGGGCCTGGCACGTGGGCTGTCCTTGGACAAGTCCCTGTTCAGAAAGTTGTCCCTGAGGAATGAAACACTTCTGAGACTCCTGCATCCTGGCCCTCACTTCCACCGGGGGAAGATTGATTTCTTCAGATTTCGGTTGCCTTTTGAAACACTTCTCTGTTTCACTGTGGGTGTGTAGAAGCTATGAACTCGGAACTTTCGTTGTTTTCCGAGGACCGGAAGAAGATGTGCAAGAAATCCTGTCGAGTAGAATCTCATCACAGGGGCGTGGGCAGCCCAGGAGTTGGCGGGTATGTAGAGAGAGGTGTCAAAAATAGTAATTGAGAGTGAGCTTTGGGAGGAAGATGTTGGAAATAAAGATGGTGGAAGAAAGAGGAGTGCTGAGGAAAGGTGCTCTGAAAGATCGTCCTGGTGGGAGACACATGGGGATCTAGAGTGGAAATGTTACGGGATCTCTGGGGTGTTGATTTTTCTGGCTGGAAACCTCTGCGGCCGCAGCACCTTTGCCTCAGTTCTTGTCCTGCATCCAGGAAGAATGAGGTACGCAGATTAGTGAAGGGTGAAGAACAGTTTTATTTAGTGTTAGAACAGCTCAGAGTAGTGGGTAGCTCCTCTCTGTAGGCAGGTCATCCGTCGAGTGTTCAGCTGTCAGCAGAGGAGGCCCTGGAGAGGGTGGCTCCTCTCTGCAGGCAAGTCACTTGGACATCTCTGCAGGTCTCTGAAGCTCTCAGCAGAGAGCATAGATCCTCTCTGCCCTCTCCGTCCTCTGGCTGTCCTCTCGCCTTCTCTGACTGAGCCCAGGGCTTTTATGGACCTCAAGAGGGAAGGAAGGATGTGCCAATTGGTCCATGGGTGGCCATGGGCGGGCCTGGAATAGGTACCATGAGTCCTCACTCTGGTCCACAGGACTGGCAGCCCAGCTGCCAGCCTTCAGGCCCTTCCTGGCCTTCCACTGTCCCCTTCCACTCAGGACTCTGTCTGCCTCCCGCTGCCATTCATGGCCCTGGGGCTTGGCTCCAATCCCACTCTGAGATCCGAGTGGGTGCTGGGAGCTGAGAGAGGCCAGGCAGTGGAAGCAGACACCCATGACCCTGCAGGGATGGTGTG
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ATTTTAAATAATAGAATGTAGCAACTCTGGAAGTCAGGTTCTCTTCCCACCCCGGGGTTTGTTGTTGTTGCCACTTGTTGTTTGTTTAGTGACTTTTCTGGACTAATTCTGTAAAATCTGTATTTTTTGTCTTGCGTGGCCACTAAAGTCTAATACAACTTAGTGGCCAGCTAGTGATTAGACAGAAATCCCCCTGAACTCCTGGAGCCATAAATGCCCCAGTCTTTGCTGAGTGGCTCTGTGTGTGTGCTTGGGCACACCTCCAACACAGAGCCAGGCTGTTTGTGACTCTCAGCTTTCACTTCCCGTTTGTGCAGTGCGTTGAGCTGAGCCACAGATGAGAGCTGAGGGCCTCCCGAGGTCTTTCCTGAGCCCTGTACATGTGTGTGGCCTTCTAGATTCCCAGGAATATGTTGGAGCTTTTCAAAGCCCCCTGAGGATATCTCATTCCCCAGCTTAAAACTTTGGTTATCCTATCATTTGCTCCGACCATTATTCTCTGTCTTAGAAAACTGTGATGTTCAACAATTACCTCTGATTGTTTTTGACAGACACCACCAGGGAAAAGGCTGTTTGTATTACATGAGCTCAGATAAAGTCTTTTGAGTGTGGTCTACCAGAGGATTCCCAGACAGATGAGATAAGCACAGTTTCTGGAGTGGGGCTTTTCAGGAATGCCAACCCTGTTCTGCACCCCCCGGGGCTGGCAGGTGCTGGTTTTCACCCTGACTTCAGGCTGAGGGTTTCAAGGCTGCCATAGGGATGGCTGGGAATAGGGCAGGTTTCAGTGCCACCGAGCTCCCGTGCTGACGGGGATTCAGATGCTTTTCTGGAATGAACACTTCCCTGATTGCTGCAGCCTTTGGCGAGTTTCCAGAGTTCTGAGAAAGTTGATTCTGACCATTTGCCGATGTCTTGTTGCTTTCGTGGAGGAGAGAATTCTCAGAGCTTGTGAGAGTCTCTTTGCTGACATCCTTCTCTGGCTTCAAGGACAGCACTTGCTGGAAATCAGGAGGCATCCCCTGAGCCCCACAAGGTCAGCTTGTGGCCTTTGTGGCCTTTCTGTTCCCTGCTGGTTGTTGGGGAACTAGAGTGAGTTCCTGGAAGTGCTTCTCCATCATGAAGTCTGGTTTCTCTCTGTACTGTGAAGTCACATCTGTGACCTAAACATGTCTCTTAATTATCCAAAGCCCAGCCAAGTTCTGTCTCCTCTGTGGGTGCTTTTTCTAGCCATCTCTGAAGAGTCAATCTTGAGAAATTTCTCAGTATGTCTTCATCATGGCATTATGTACATATCATTAGCATAATTCACTCAGATGGAAGGCAGAAAGGGTGGGAACTAACATTGATCACATTTATGGAAACCTGCCTTCTCGTGCTGGGCACTTTATATATGTTATCTCCCTTTGTGGTGCAATCTCATGACATGCAGTCATTGTCCATGTTTGTGGGTGAGGAAACAGGCTTAGGGGTGGGAGGCTCGCCTGAGGCCCCACACTGTTGGCTGGAGACAGCGTGGGGCCTGAGTCTTGCTCACAGCCTGAACGCTGCACTCTGCTGCTCCGCGTCCCAGGAAGGAAAAGCTGCTGCAGTGGGTTTGTGTTGCCAAATACATGGAGGCTTTTTTCTGGGTGAGTGCCCAGCAGTTGATTGTTCTGTATGTCCAAGAAAGTCACCTTAGAAAAGAATTAGGTTCTAAATTTAGAAAATAATTGAGTTACAATATTTAGAACTCAGACAGCATCCCTTGGGCTTGGGGTCACAGCCCCGAAGGGGTGATTAATTTTGCCAATTGAAGATCAGAGGGGCCTGTGGCCAGAGTACCCACTGCTTAAGACACAGGTGAGCTGGAACCATGAGTTTTAAAATGTCTTGGCCAAGTTTTTATTACAAGATACAAATTTATCCCACACAGTTGCAATGCAAGCCTTGATGAAACCCCAGCTTGATGGTGTCTCCTCTGGTGTGGCTGCGCTGTTGGGAAGCAGCTGTGCCCCTGGAGACTCCCGGCTCCCTGTTTCCACCAGGTGCGTCTGCCGATGGCCCCCCGAAGTTGCTGCCCGAGAGCTACTTCGACGTGGTGGTCATTGACGAGTGTGCCCAGGCCCTCGAGGCGAGCTGCTGGATCCCCCTGCTGAAGGCCAGAAAGTGCATCCTGGCGGGCGATCACAAGCAGCTGCCCCCCACCACAGTCTCTCACAAGTAAGACCCCTTTGCCTCACATGCCCTTCTCTGCCCCCGCCCTCCTGCGGTCCTTCCACGCTCAGCCAGGAGCCCCAGGCTCACCAGGAGCCCCTGCGGTGCCTCCTCGGTTTCTCGGCACAGCTCCTACCCCGTCTTACAGCATTCATTCATCTCAACGTCGCATCTGTGAGATCATGTACTCCCCGAGGGTGGGGTCGCATCACCTTCATCTTTGTAGCTTCAGAACTGGACACAGGGCCTGGCACGTTTCTGGTGTTCCGTCCCTGCTTGTTGAGTTGAATATCCCCTCATGAACCAGGCAGGTTTGATGGTAGAGTGCCGTGAGAGCCTTGGGCTGGGCTAACTGGCCTCTGGGTGGATGTGGGTTCTTTAGTCTTCAATCTGTAGACACATCCCTGGATGGAGGGCACTGGGCAGAGACTCAGCAAACCATGGTTCTGCCGTGCGGAGACACCGGAGCCCTGATGCAGTGGCCTGGCCCAGGCTGTCCTGGTGGAGACACTGGAGTCCTGATGCGGTGGCCTGGCCCAGGCTGTCCTGGTGGAGACACTGGAGCCCTGATGCAGTGGCCTGGCCCAGGCTGTCTTGGTGGAGAAAGTGCTGCCCGCCCCCCCAGCCCCCCTCTCACCTCTCCCCATACTACCCAGCACTCACTGCTTCAGCCACACAGGCCTCGCTGGCCCCTCTGCCTGGACCACTCCTGCCTGGGTGTGGCGGGCGTGCCCTCTCTCCAGATGAACCCTCTGCATGGTATCCCTTGACTGCCCTTACACGAGGCCTGTGAACAGGGCCTGGCACGTGGGCTGTCCTTGGACAAGTCCCTGTTCAGAAAGTTGTCCCTGAGGAATGAAACACTTCTGAGACTCCTGCATCCTGGCCCTCACTTCCACCGGGGGAAGATTGATTTCTTCAGATTTCGGTTGCCTTTTGAAACACTTCTCTGTTTCACTGTGGGTGTGTAGAAGCTATGAACTCGGAACTTTCGTTGTTTTCCGAGGACCGGAAGAAGATGTGCAAGAAATCCTGTCGAGTAGAATCTCATCACAGGGGCGTGGGCAGCCCAGGAGTTGGCGGGTATGTAGAGAGAGGTGTCAAAAATAGTAATTGAGAGTGAGCTTTGGGAGGAAGATGTTGGAAATAAAGATGGTGGAAGAAAGAGGAGTGCTGAGGAAAGGTGCTCTGAAAGATCGTCCTGGTGGGAGACACATGGGGATCTAGAGTGGAAATGTTACGGGATCTCTGGGGTGTTGATTTTTCTGGCTGGAAACCTCTGCGGCCGCAGCACCTTTGCCTCAGTTCTTGTCCTGCATCCAGGAAGAATGAGGTACGCAGATTAGTGAAGGGTGAAGAACAGTTTTATTTAGTGTTAGAACAGCTCAGAGTAGTGGGTAGCTCCTCTCTGTAGGCAGGTCATCCGTCGAGTGTTCAGCTGTCAGCAGAGGAGGCCCTGGAGAGGGTGGCTCCTCTCTGCAGGCAAGTCACTTGGACATCTCTGCAGGTCTCTGAAGCTCTCAGCAGAGAGCATAGATCCTCTCTGCCCTCTCCGTCCTCTGGCTGTCCTCTCGCCTTCTCTGACTGAGCCCAGGGCTTTTATGGACCTCAAGAGGGAAGGAAGGATGTGCCAATTGGTCCATGGGTGGCCATGGGCGGGCCTGGAATAGGTACCATGAGTCCTCACTCTGGTCCACAGGACTGGCAGCCCAGCTGCCAGCCTTCAGGCCCTTCCTGGCCTTCCACTGTCCCCTTCCACTCAGGACTCTGTCTGCCTCCCGCTGCCATTCATGGCCCTGGGGCTTGGCTCCAATCCCACTCTGAGATCCGAGTGGGTGCTGGGAGCTGAGAGAGGCCAGGCAGTGGAAGCAGACACCCATGACCCTGCAGGGATGGTGTG
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Task1_train_16210
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This mutation is located in gene IGHMBP2 (immunoglobulin mu DNA binding protein 2) on Chromosome 11. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Autosomal recessive distal spinal muscular atrophy 1
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ATTTTAAATAATAGAATGTAGCAACTCTGGAAGTCAGGTTCTCTTCCCACCCCGGGGTTTGTTGTTGTTGCCACTTGTTGTTTGTTTAGTGACTTTTCTGGACTAATTCTGTAAAATCTGTATTTTTTGTCTTGCGTGGCCACTAAAGTCTAATACAACTTAGTGGCCAGCTAGTGATTAGACAGAAATCCCCCTGAACTCCTGGAGCCATAAATGCCCCAGTCTTTGCTGAGTGGCTCTGTGTGTGTGCTTGGGCACACCTCCAACACAGAGCCAGGCTGTTTGTGACTCTCAGCTTTCACTTCCCGTTTGTGCAGTGCGTTGAGCTGAGCCACAGATGAGAGCTGAGGGCCTCCCGAGGTCTTTCCTGAGCCCTGTACATGTGTGTGGCCTTCTAGATTCCCAGGAATATGTTGGAGCTTTTCAAAGCCCCCTGAGGATATCTCATTCCCCAGCTTAAAACTTTGGTTATCCTATCATTTGCTCCGACCATTATTCTCTGTCTTAGAAAACTGTGATGTTCAACAATTACCTCTGATTGTTTTTGACAGACACCACCAGGGAAAAGGCTGTTTGTATTACATGAGCTCAGATAAAGTCTTTTGAGTGTGGTCTACCAGAGGATTCCCAGACAGATGAGATAAGCACAGTTTCTGGAGTGGGGCTTTTCAGGAATGCCAACCCTGTTCTGCACCCCCCGGGGCTGGCAGGTGCTGGTTTTCACCCTGACTTCAGGCTGAGGGTTTCAAGGCTGCCATAGGGATGGCTGGGAATAGGGCAGGTTTCAGTGCCACCGAGCTCCCGTGCTGACGGGGATTCAGATGCTTTTCTGGAATGAACACTTCCCTGATTGCTGCAGCCTTTGGCGAGTTTCCAGAGTTCTGAGAAAGTTGATTCTGACCATTTGCCGATGTCTTGTTGCTTTCGTGGAGGAGAGAATTCTCAGAGCTTGTGAGAGTCTCTTTGCTGACATCCTTCTCTGGCTTCAAGGACAGCACTTGCTGGAAATCAGGAGGCATCCCCTGAGCCCCACAAGGTCAGCTTGTGGCCTTTGTGGCCTTTCTGTTCCCTGCTGGTTGTTGGGGAACTAGAGTGAGTTCCTGGAAGTGCTTCTCCATCATGAAGTCTGGTTTCTCTCTGTACTGTGAAGTCACATCTGTGACCTAAACATGTCTCTTAATTATCCAAAGCCCAGCCAAGTTCTGTCTCCTCTGTGGGTGCTTTTTCTAGCCATCTCTGAAGAGTCAATCTTGAGAAATTTCTCAGTATGTCTTCATCATGGCATTATGTACATATCATTAGCATAATTCACTCAGATGGAAGGCAGAAAGGGTGGGAACTAACATTGATCACATTTATGGAAACCTGCCTTCTCGTGCTGGGCACTTTATATATGTTATCTCCCTTTGTGGTGCAATCTCATGACATGCAGTCATTGTCCATGTTTGTGGGTGAGGAAACAGGCTTAGGGGTGGGAGGCTCGCCTGAGGCCCCACACTGTTGGCTGGAGACAGCGTGGGGCCTGAGTCTTGCTCACAGCCTGAACGCTGCACTCTGCTGCTCCGCGTCCCAGGAAGGAAAAGCTGCTGCAGTGGGTTTGTGTTGCCAAATACATGGAGGCTTTTTTCTGGGTGAGTGCCCAGCAGTTGATTGTTCTGTATGTCCAAGAAAGTCACCTTAGAAAAGAATTAGGTTCTAAATTTAGAAAATAATTGAGTTACAATATTTAGAACTCAGACAGCATCCCTTGGGCTTGGGGTCACAGCCCCGAAGGGGTGATTAATTTTGCCAATTGAAGATCAGAGGGGCCTGTGGCCAGAGTACCCACTGCTTAAGACACAGGTGAGCTGGAACCATGAGTTTTAAAATGTCTTGGCCAAGTTTTTATTACAAGATACAAATTTATCCCACACAGTTGCAATGCAAGCCTTGATGAAACCCCAGCTTGATGGTGTCTCCTCTGGTGTGGCTGCGCTGTTGGGAAGCAGCTGTGCCCCTGGAGACTCCCGGCTCCCTGTTTCCACCAGGTGCGTCTGCCGATGGCCCCCTGAAGTTGCTGCCCGAGAGCTACTTCGACGTGGTGGTCATTGACGAGTGTGCCCAGGCCCTCGAGGCGAGCTGCTGGATCCCCCTGCTGAAGGCCAGAAAGTGCATCCTGGCGGGCGATCACAAGCAGCTGCCCCCCACCACAGTCTCTCACAAGTAAGACCCCTTTGCCTCACATGCCCTTCTCTGCCCCCGCCCTCCTGCGGTCCTTCCACGCTCAGCCAGGAGCCCCAGGCTCACCAGGAGCCCCTGCGGTGCCTCCTCGGTTTCTCGGCACAGCTCCTACCCCGTCTTACAGCATTCATTCATCTCAACGTCGCATCTGTGAGATCATGTACTCCCCGAGGGTGGGGTCGCATCACCTTCATCTTTGTAGCTTCAGAACTGGACACAGGGCCTGGCACGTTTCTGGTGTTCCGTCCCTGCTTGTTGAGTTGAATATCCCCTCATGAACCAGGCAGGTTTGATGGTAGAGTGCCGTGAGAGCCTTGGGCTGGGCTAACTGGCCTCTGGGTGGATGTGGGTTCTTTAGTCTTCAATCTGTAGACACATCCCTGGATGGAGGGCACTGGGCAGAGACTCAGCAAACCATGGTTCTGCCGTGCGGAGACACCGGAGCCCTGATGCAGTGGCCTGGCCCAGGCTGTCCTGGTGGAGACACTGGAGTCCTGATGCGGTGGCCTGGCCCAGGCTGTCCTGGTGGAGACACTGGAGCCCTGATGCAGTGGCCTGGCCCAGGCTGTCTTGGTGGAGAAAGTGCTGCCCGCCCCCCCAGCCCCCCTCTCACCTCTCCCCATACTACCCAGCACTCACTGCTTCAGCCACACAGGCCTCGCTGGCCCCTCTGCCTGGACCACTCCTGCCTGGGTGTGGCGGGCGTGCCCTCTCTCCAGATGAACCCTCTGCATGGTATCCCTTGACTGCCCTTACACGAGGCCTGTGAACAGGGCCTGGCACGTGGGCTGTCCTTGGACAAGTCCCTGTTCAGAAAGTTGTCCCTGAGGAATGAAACACTTCTGAGACTCCTGCATCCTGGCCCTCACTTCCACCGGGGGAAGATTGATTTCTTCAGATTTCGGTTGCCTTTTGAAACACTTCTCTGTTTCACTGTGGGTGTGTAGAAGCTATGAACTCGGAACTTTCGTTGTTTTCCGAGGACCGGAAGAAGATGTGCAAGAAATCCTGTCGAGTAGAATCTCATCACAGGGGCGTGGGCAGCCCAGGAGTTGGCGGGTATGTAGAGAGAGGTGTCAAAAATAGTAATTGAGAGTGAGCTTTGGGAGGAAGATGTTGGAAATAAAGATGGTGGAAGAAAGAGGAGTGCTGAGGAAAGGTGCTCTGAAAGATCGTCCTGGTGGGAGACACATGGGGATCTAGAGTGGAAATGTTACGGGATCTCTGGGGTGTTGATTTTTCTGGCTGGAAACCTCTGCGGCCGCAGCACCTTTGCCTCAGTTCTTGTCCTGCATCCAGGAAGAATGAGGTACGCAGATTAGTGAAGGGTGAAGAACAGTTTTATTTAGTGTTAGAACAGCTCAGAGTAGTGGGTAGCTCCTCTCTGTAGGCAGGTCATCCGTCGAGTGTTCAGCTGTCAGCAGAGGAGGCCCTGGAGAGGGTGGCTCCTCTCTGCAGGCAAGTCACTTGGACATCTCTGCAGGTCTCTGAAGCTCTCAGCAGAGAGCATAGATCCTCTCTGCCCTCTCCGTCCTCTGGCTGTCCTCTCGCCTTCTCTGACTGAGCCCAGGGCTTTTATGGACCTCAAGAGGGAAGGAAGGATGTGCCAATTGGTCCATGGGTGGCCATGGGCGGGCCTGGAATAGGTACCATGAGTCCTCACTCTGGTCCACAGGACTGGCAGCCCAGCTGCCAGCCTTCAGGCCCTTCCTGGCCTTCCACTGTCCCCTTCCACTCAGGACTCTGTCTGCCTCCCGCTGCCATTCATGGCCCTGGGGCTTGGCTCCAATCCCACTCTGAGATCCGAGTGGGTGCTGGGAGCTGAGAGAGGCCAGGCAGTGGAAGCAGACACCCATGACCCTGCAGGGATGGTGTG
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ATTTTAAATAATAGAATGTAGCAACTCTGGAAGTCAGGTTCTCTTCCCACCCCGGGGTTTGTTGTTGTTGCCACTTGTTGTTTGTTTAGTGACTTTTCTGGACTAATTCTGTAAAATCTGTATTTTTTGTCTTGCGTGGCCACTAAAGTCTAATACAACTTAGTGGCCAGCTAGTGATTAGACAGAAATCCCCCTGAACTCCTGGAGCCATAAATGCCCCAGTCTTTGCTGAGTGGCTCTGTGTGTGTGCTTGGGCACACCTCCAACACAGAGCCAGGCTGTTTGTGACTCTCAGCTTTCACTTCCCGTTTGTGCAGTGCGTTGAGCTGAGCCACAGATGAGAGCTGAGGGCCTCCCGAGGTCTTTCCTGAGCCCTGTACATGTGTGTGGCCTTCTAGATTCCCAGGAATATGTTGGAGCTTTTCAAAGCCCCCTGAGGATATCTCATTCCCCAGCTTAAAACTTTGGTTATCCTATCATTTGCTCCGACCATTATTCTCTGTCTTAGAAAACTGTGATGTTCAACAATTACCTCTGATTGTTTTTGACAGACACCACCAGGGAAAAGGCTGTTTGTATTACATGAGCTCAGATAAAGTCTTTTGAGTGTGGTCTACCAGAGGATTCCCAGACAGATGAGATAAGCACAGTTTCTGGAGTGGGGCTTTTCAGGAATGCCAACCCTGTTCTGCACCCCCCGGGGCTGGCAGGTGCTGGTTTTCACCCTGACTTCAGGCTGAGGGTTTCAAGGCTGCCATAGGGATGGCTGGGAATAGGGCAGGTTTCAGTGCCACCGAGCTCCCGTGCTGACGGGGATTCAGATGCTTTTCTGGAATGAACACTTCCCTGATTGCTGCAGCCTTTGGCGAGTTTCCAGAGTTCTGAGAAAGTTGATTCTGACCATTTGCCGATGTCTTGTTGCTTTCGTGGAGGAGAGAATTCTCAGAGCTTGTGAGAGTCTCTTTGCTGACATCCTTCTCTGGCTTCAAGGACAGCACTTGCTGGAAATCAGGAGGCATCCCCTGAGCCCCACAAGGTCAGCTTGTGGCCTTTGTGGCCTTTCTGTTCCCTGCTGGTTGTTGGGGAACTAGAGTGAGTTCCTGGAAGTGCTTCTCCATCATGAAGTCTGGTTTCTCTCTGTACTGTGAAGTCACATCTGTGACCTAAACATGTCTCTTAATTATCCAAAGCCCAGCCAAGTTCTGTCTCCTCTGTGGGTGCTTTTTCTAGCCATCTCTGAAGAGTCAATCTTGAGAAATTTCTCAGTATGTCTTCATCATGGCATTATGTACATATCATTAGCATAATTCACTCAGATGGAAGGCAGAAAGGGTGGGAACTAACATTGATCACATTTATGGAAACCTGCCTTCTCGTGCTGGGCACTTTATATATGTTATCTCCCTTTGTGGTGCAATCTCATGACATGCAGTCATTGTCCATGTTTGTGGGTGAGGAAACAGGCTTAGGGGTGGGAGGCTCGCCTGAGGCCCCACACTGTTGGCTGGAGACAGCGTGGGGCCTGAGTCTTGCTCACAGCCTGAACGCTGCACTCTGCTGCTCCGCGTCCCAGGAAGGAAAAGCTGCTGCAGTGGGTTTGTGTTGCCAAATACATGGAGGCTTTTTTCTGGGTGAGTGCCCAGCAGTTGATTGTTCTGTATGTCCAAGAAAGTCACCTTAGAAAAGAATTAGGTTCTAAATTTAGAAAATAATTGAGTTACAATATTTAGAACTCAGACAGCATCCCTTGGGCTTGGGGTCACAGCCCCGAAGGGGTGATTAATTTTGCCAATTGAAGATCAGAGGGGCCTGTGGCCAGAGTACCCACTGCTTAAGACACAGGTGAGCTGGAACCATGAGTTTTAAAATGTCTTGGCCAAGTTTTTATTACAAGATACAAATTTATCCCACACAGTTGCAATGCAAGCCTTGATGAAACCCCAGCTTGATGGTGTCTCCTCTGGTGTGGCTGCGCTGTTGGGAAGCAGCTGTGCCCCTGGAGACTCCCGGCTCCCTGTTTCCACCAGGTGCGTCTGCCGATGGCCCCCCGAAGTTGCTGCCCGAGAGCTACTTCGACGTGGTGGTCATTGACGAGTGTGCCCAGGCCCTCGAGGCGAGCTGCTGGATCCCCCTGCTGAAGGCCAGAAAGTGCATCCTGGCGGGCGATCACAAGCAGCTGCCCCCCACCACAGTCTCTCACAAGTAAGACCCCTTTGCCTCACATGCCCTTCTCTGCCCCCGCCCTCCTGCGGTCCTTCCACGCTCAGCCAGGAGCCCCAGGCTCACCAGGAGCCCCTGCGGTGCCTCCTCGGTTTCTCGGCACAGCTCCTACCCCGTCTTACAGCATTCATTCATCTCAACGTCGCATCTGTGAGATCATGTACTCCCCGAGGGTGGGGTCGCATCACCTTCATCTTTGTAGCTTCAGAACTGGACACAGGGCCTGGCACGTTTCTGGTGTTCCGTCCCTGCTTGTTGAGTTGAATATCCCCTCATGAACCAGGCAGGTTTGATGGTAGAGTGCCGTGAGAGCCTTGGGCTGGGCTAACTGGCCTCTGGGTGGATGTGGGTTCTTTAGTCTTCAATCTGTAGACACATCCCTGGATGGAGGGCACTGGGCAGAGACTCAGCAAACCATGGTTCTGCCGTGCGGAGACACCGGAGCCCTGATGCAGTGGCCTGGCCCAGGCTGTCCTGGTGGAGACACTGGAGTCCTGATGCGGTGGCCTGGCCCAGGCTGTCCTGGTGGAGACACTGGAGCCCTGATGCAGTGGCCTGGCCCAGGCTGTCTTGGTGGAGAAAGTGCTGCCCGCCCCCCCAGCCCCCCTCTCACCTCTCCCCATACTACCCAGCACTCACTGCTTCAGCCACACAGGCCTCGCTGGCCCCTCTGCCTGGACCACTCCTGCCTGGGTGTGGCGGGCGTGCCCTCTCTCCAGATGAACCCTCTGCATGGTATCCCTTGACTGCCCTTACACGAGGCCTGTGAACAGGGCCTGGCACGTGGGCTGTCCTTGGACAAGTCCCTGTTCAGAAAGTTGTCCCTGAGGAATGAAACACTTCTGAGACTCCTGCATCCTGGCCCTCACTTCCACCGGGGGAAGATTGATTTCTTCAGATTTCGGTTGCCTTTTGAAACACTTCTCTGTTTCACTGTGGGTGTGTAGAAGCTATGAACTCGGAACTTTCGTTGTTTTCCGAGGACCGGAAGAAGATGTGCAAGAAATCCTGTCGAGTAGAATCTCATCACAGGGGCGTGGGCAGCCCAGGAGTTGGCGGGTATGTAGAGAGAGGTGTCAAAAATAGTAATTGAGAGTGAGCTTTGGGAGGAAGATGTTGGAAATAAAGATGGTGGAAGAAAGAGGAGTGCTGAGGAAAGGTGCTCTGAAAGATCGTCCTGGTGGGAGACACATGGGGATCTAGAGTGGAAATGTTACGGGATCTCTGGGGTGTTGATTTTTCTGGCTGGAAACCTCTGCGGCCGCAGCACCTTTGCCTCAGTTCTTGTCCTGCATCCAGGAAGAATGAGGTACGCAGATTAGTGAAGGGTGAAGAACAGTTTTATTTAGTGTTAGAACAGCTCAGAGTAGTGGGTAGCTCCTCTCTGTAGGCAGGTCATCCGTCGAGTGTTCAGCTGTCAGCAGAGGAGGCCCTGGAGAGGGTGGCTCCTCTCTGCAGGCAAGTCACTTGGACATCTCTGCAGGTCTCTGAAGCTCTCAGCAGAGAGCATAGATCCTCTCTGCCCTCTCCGTCCTCTGGCTGTCCTCTCGCCTTCTCTGACTGAGCCCAGGGCTTTTATGGACCTCAAGAGGGAAGGAAGGATGTGCCAATTGGTCCATGGGTGGCCATGGGCGGGCCTGGAATAGGTACCATGAGTCCTCACTCTGGTCCACAGGACTGGCAGCCCAGCTGCCAGCCTTCAGGCCCTTCCTGGCCTTCCACTGTCCCCTTCCACTCAGGACTCTGTCTGCCTCCCGCTGCCATTCATGGCCCTGGGGCTTGGCTCCAATCCCACTCTGAGATCCGAGTGGGTGCTGGGAGCTGAGAGAGGCCAGGCAGTGGAAGCAGACACCCATGACCCTGCAGGGATGGTGTG
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Task1_train_16211
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A mutation found in IGHMBP2 (immunoglobulin mu DNA binding protein 2) 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; Charcot-Marie-Tooth disease axonal type 2S
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ATTTTAAATAATAGAATGTAGCAACTCTGGAAGTCAGGTTCTCTTCCCACCCCGGGGTTTGTTGTTGTTGCCACTTGTTGTTTGTTTAGTGACTTTTCTGGACTAATTCTGTAAAATCTGTATTTTTTGTCTTGCGTGGCCACTAAAGTCTAATACAACTTAGTGGCCAGCTAGTGATTAGACAGAAATCCCCCTGAACTCCTGGAGCCATAAATGCCCCAGTCTTTGCTGAGTGGCTCTGTGTGTGTGCTTGGGCACACCTCCAACACAGAGCCAGGCTGTTTGTGACTCTCAGCTTTCACTTCCCGTTTGTGCAGTGCGTTGAGCTGAGCCACAGATGAGAGCTGAGGGCCTCCCGAGGTCTTTCCTGAGCCCTGTACATGTGTGTGGCCTTCTAGATTCCCAGGAATATGTTGGAGCTTTTCAAAGCCCCCTGAGGATATCTCATTCCCCAGCTTAAAACTTTGGTTATCCTATCATTTGCTCCGACCATTATTCTCTGTCTTAGAAAACTGTGATGTTCAACAATTACCTCTGATTGTTTTTGACAGACACCACCAGGGAAAAGGCTGTTTGTATTACATGAGCTCAGATAAAGTCTTTTGAGTGTGGTCTACCAGAGGATTCCCAGACAGATGAGATAAGCACAGTTTCTGGAGTGGGGCTTTTCAGGAATGCCAACCCTGTTCTGCACCCCCCGGGGCTGGCAGGTGCTGGTTTTCACCCTGACTTCAGGCTGAGGGTTTCAAGGCTGCCATAGGGATGGCTGGGAATAGGGCAGGTTTCAGTGCCACCGAGCTCCCGTGCTGACGGGGATTCAGATGCTTTTCTGGAATGAACACTTCCCTGATTGCTGCAGCCTTTGGCGAGTTTCCAGAGTTCTGAGAAAGTTGATTCTGACCATTTGCCGATGTCTTGTTGCTTTCGTGGAGGAGAGAATTCTCAGAGCTTGTGAGAGTCTCTTTGCTGACATCCTTCTCTGGCTTCAAGGACAGCACTTGCTGGAAATCAGGAGGCATCCCCTGAGCCCCACAAGGTCAGCTTGTGGCCTTTGTGGCCTTTCTGTTCCCTGCTGGTTGTTGGGGAACTAGAGTGAGTTCCTGGAAGTGCTTCTCCATCATGAAGTCTGGTTTCTCTCTGTACTGTGAAGTCACATCTGTGACCTAAACATGTCTCTTAATTATCCAAAGCCCAGCCAAGTTCTGTCTCCTCTGTGGGTGCTTTTTCTAGCCATCTCTGAAGAGTCAATCTTGAGAAATTTCTCAGTATGTCTTCATCATGGCATTATGTACATATCATTAGCATAATTCACTCAGATGGAAGGCAGAAAGGGTGGGAACTAACATTGATCACATTTATGGAAACCTGCCTTCTCGTGCTGGGCACTTTATATATGTTATCTCCCTTTGTGGTGCAATCTCATGACATGCAGTCATTGTCCATGTTTGTGGGTGAGGAAACAGGCTTAGGGGTGGGAGGCTCGCCTGAGGCCCCACACTGTTGGCTGGAGACAGCGTGGGGCCTGAGTCTTGCTCACAGCCTGAACGCTGCACTCTGCTGCTCCGCGTCCCAGGAAGGAAAAGCTGCTGCAGTGGGTTTGTGTTGCCAAATACATGGAGGCTTTTTTCTGGGTGAGTGCCCAGCAGTTGATTGTTCTGTATGTCCAAGAAAGTCACCTTAGAAAAGAATTAGGTTCTAAATTTAGAAAATAATTGAGTTACAATATTTAGAACTCAGACAGCATCCCTTGGGCTTGGGGTCACAGCCCCGAAGGGGTGATTAATTTTGCCAATTGAAGATCAGAGGGGCCTGTGGCCAGAGTACCCACTGCTTAAGACACAGGTGAGCTGGAACCATGAGTTTTAAAATGTCTTGGCCAAGTTTTTATTACAAGATACAAATTTATCCCACACAGTTGCAATGCAAGCCTTGATGAAACCCCAGCTTGATGGTGTCTCCTCTGGTGTGGCTGCGCTGTTGGGAAGCAGCTGTGCCCCTGGAGACTCCCGGCTCCCTGTTTCCACCAGGTGCGTCTGCCGATGGCCCCCTGAAGTTGCTGCCCGAGAGCTACTTCGACGTGGTGGTCATTGACGAGTGTGCCCAGGCCCTCGAGGCGAGCTGCTGGATCCCCCTGCTGAAGGCCAGAAAGTGCATCCTGGCGGGCGATCACAAGCAGCTGCCCCCCACCACAGTCTCTCACAAGTAAGACCCCTTTGCCTCACATGCCCTTCTCTGCCCCCGCCCTCCTGCGGTCCTTCCACGCTCAGCCAGGAGCCCCAGGCTCACCAGGAGCCCCTGCGGTGCCTCCTCGGTTTCTCGGCACAGCTCCTACCCCGTCTTACAGCATTCATTCATCTCAACGTCGCATCTGTGAGATCATGTACTCCCCGAGGGTGGGGTCGCATCACCTTCATCTTTGTAGCTTCAGAACTGGACACAGGGCCTGGCACGTTTCTGGTGTTCCGTCCCTGCTTGTTGAGTTGAATATCCCCTCATGAACCAGGCAGGTTTGATGGTAGAGTGCCGTGAGAGCCTTGGGCTGGGCTAACTGGCCTCTGGGTGGATGTGGGTTCTTTAGTCTTCAATCTGTAGACACATCCCTGGATGGAGGGCACTGGGCAGAGACTCAGCAAACCATGGTTCTGCCGTGCGGAGACACCGGAGCCCTGATGCAGTGGCCTGGCCCAGGCTGTCCTGGTGGAGACACTGGAGTCCTGATGCGGTGGCCTGGCCCAGGCTGTCCTGGTGGAGACACTGGAGCCCTGATGCAGTGGCCTGGCCCAGGCTGTCTTGGTGGAGAAAGTGCTGCCCGCCCCCCCAGCCCCCCTCTCACCTCTCCCCATACTACCCAGCACTCACTGCTTCAGCCACACAGGCCTCGCTGGCCCCTCTGCCTGGACCACTCCTGCCTGGGTGTGGCGGGCGTGCCCTCTCTCCAGATGAACCCTCTGCATGGTATCCCTTGACTGCCCTTACACGAGGCCTGTGAACAGGGCCTGGCACGTGGGCTGTCCTTGGACAAGTCCCTGTTCAGAAAGTTGTCCCTGAGGAATGAAACACTTCTGAGACTCCTGCATCCTGGCCCTCACTTCCACCGGGGGAAGATTGATTTCTTCAGATTTCGGTTGCCTTTTGAAACACTTCTCTGTTTCACTGTGGGTGTGTAGAAGCTATGAACTCGGAACTTTCGTTGTTTTCCGAGGACCGGAAGAAGATGTGCAAGAAATCCTGTCGAGTAGAATCTCATCACAGGGGCGTGGGCAGCCCAGGAGTTGGCGGGTATGTAGAGAGAGGTGTCAAAAATAGTAATTGAGAGTGAGCTTTGGGAGGAAGATGTTGGAAATAAAGATGGTGGAAGAAAGAGGAGTGCTGAGGAAAGGTGCTCTGAAAGATCGTCCTGGTGGGAGACACATGGGGATCTAGAGTGGAAATGTTACGGGATCTCTGGGGTGTTGATTTTTCTGGCTGGAAACCTCTGCGGCCGCAGCACCTTTGCCTCAGTTCTTGTCCTGCATCCAGGAAGAATGAGGTACGCAGATTAGTGAAGGGTGAAGAACAGTTTTATTTAGTGTTAGAACAGCTCAGAGTAGTGGGTAGCTCCTCTCTGTAGGCAGGTCATCCGTCGAGTGTTCAGCTGTCAGCAGAGGAGGCCCTGGAGAGGGTGGCTCCTCTCTGCAGGCAAGTCACTTGGACATCTCTGCAGGTCTCTGAAGCTCTCAGCAGAGAGCATAGATCCTCTCTGCCCTCTCCGTCCTCTGGCTGTCCTCTCGCCTTCTCTGACTGAGCCCAGGGCTTTTATGGACCTCAAGAGGGAAGGAAGGATGTGCCAATTGGTCCATGGGTGGCCATGGGCGGGCCTGGAATAGGTACCATGAGTCCTCACTCTGGTCCACAGGACTGGCAGCCCAGCTGCCAGCCTTCAGGCCCTTCCTGGCCTTCCACTGTCCCCTTCCACTCAGGACTCTGTCTGCCTCCCGCTGCCATTCATGGCCCTGGGGCTTGGCTCCAATCCCACTCTGAGATCCGAGTGGGTGCTGGGAGCTGAGAGAGGCCAGGCAGTGGAAGCAGACACCCATGACCCTGCAGGGATGGTGTG
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ATTTTAAATAATAGAATGTAGCAACTCTGGAAGTCAGGTTCTCTTCCCACCCCGGGGTTTGTTGTTGTTGCCACTTGTTGTTTGTTTAGTGACTTTTCTGGACTAATTCTGTAAAATCTGTATTTTTTGTCTTGCGTGGCCACTAAAGTCTAATACAACTTAGTGGCCAGCTAGTGATTAGACAGAAATCCCCCTGAACTCCTGGAGCCATAAATGCCCCAGTCTTTGCTGAGTGGCTCTGTGTGTGTGCTTGGGCACACCTCCAACACAGAGCCAGGCTGTTTGTGACTCTCAGCTTTCACTTCCCGTTTGTGCAGTGCGTTGAGCTGAGCCACAGATGAGAGCTGAGGGCCTCCCGAGGTCTTTCCTGAGCCCTGTACATGTGTGTGGCCTTCTAGATTCCCAGGAATATGTTGGAGCTTTTCAAAGCCCCCTGAGGATATCTCATTCCCCAGCTTAAAACTTTGGTTATCCTATCATTTGCTCCGACCATTATTCTCTGTCTTAGAAAACTGTGATGTTCAACAATTACCTCTGATTGTTTTTGACAGACACCACCAGGGAAAAGGCTGTTTGTATTACATGAGCTCAGATAAAGTCTTTTGAGTGTGGTCTACCAGAGGATTCCCAGACAGATGAGATAAGCACAGTTTCTGGAGTGGGGCTTTTCAGGAATGCCAACCCTGTTCTGCACCCCCCGGGGCTGGCAGGTGCTGGTTTTCACCCTGACTTCAGGCTGAGGGTTTCAAGGCTGCCATAGGGATGGCTGGGAATAGGGCAGGTTTCAGTGCCACCGAGCTCCCGTGCTGACGGGGATTCAGATGCTTTTCTGGAATGAACACTTCCCTGATTGCTGCAGCCTTTGGCGAGTTTCCAGAGTTCTGAGAAAGTTGATTCTGACCATTTGCCGATGTCTTGTTGCTTTCGTGGAGGAGAGAATTCTCAGAGCTTGTGAGAGTCTCTTTGCTGACATCCTTCTCTGGCTTCAAGGACAGCACTTGCTGGAAATCAGGAGGCATCCCCTGAGCCCCACAAGGTCAGCTTGTGGCCTTTGTGGCCTTTCTGTTCCCTGCTGGTTGTTGGGGAACTAGAGTGAGTTCCTGGAAGTGCTTCTCCATCATGAAGTCTGGTTTCTCTCTGTACTGTGAAGTCACATCTGTGACCTAAACATGTCTCTTAATTATCCAAAGCCCAGCCAAGTTCTGTCTCCTCTGTGGGTGCTTTTTCTAGCCATCTCTGAAGAGTCAATCTTGAGAAATTTCTCAGTATGTCTTCATCATGGCATTATGTACATATCATTAGCATAATTCACTCAGATGGAAGGCAGAAAGGGTGGGAACTAACATTGATCACATTTATGGAAACCTGCCTTCTCGTGCTGGGCACTTTATATATGTTATCTCCCTTTGTGGTGCAATCTCATGACATGCAGTCATTGTCCATGTTTGTGGGTGAGGAAACAGGCTTAGGGGTGGGAGGCTCGCCTGAGGCCCCACACTGTTGGCTGGAGACAGCGTGGGGCCTGAGTCTTGCTCACAGCCTGAACGCTGCACTCTGCTGCTCCGCGTCCCAGGAAGGAAAAGCTGCTGCAGTGGGTTTGTGTTGCCAAATACATGGAGGCTTTTTTCTGGGTGAGTGCCCAGCAGTTGATTGTTCTGTATGTCCAAGAAAGTCACCTTAGAAAAGAATTAGGTTCTAAATTTAGAAAATAATTGAGTTACAATATTTAGAACTCAGACAGCATCCCTTGGGCTTGGGGTCACAGCCCCGAAGGGGTGATTAATTTTGCCAATTGAAGATCAGAGGGGCCTGTGGCCAGAGTACCCACTGCTTAAGACACAGGTGAGCTGGAACCATGAGTTTTAAAATGTCTTGGCCAAGTTTTTATTACAAGATACAAATTTATCCCACACAGTTGCAATGCAAGCCTTGATGAAACCCCAGCTTGATGGTGTCTCCTCTGGTGTGGCTGCGCTGTTGGGAAGCAGCTGTGCCCCTGGAGACTCCCGGCTCCCTGTTTCCACCAGGTGCGTCTGCCGATGGCCCCCCGAAGTTGCTGCCCGAGAGCTACTTCGACGTGGTGGTCATTGACGAGTGTGCCCAGGCCCTCGAGGCGAGCTGCTGGATCCCCCTGCTGAAGGCCAGAAAGTGCATCCTGGCGGGCGATCACAAGCAGCTGCCCCCCACCACAGTCTCTCACAAGTAAGACCCCTTTGCCTCACATGCCCTTCTCTGCCCCCGCCCTCCTGCGGTCCTTCCACGCTCAGCCAGGAGCCCCAGGCTCACCAGGAGCCCCTGCGGTGCCTCCTCGGTTTCTCGGCACAGCTCCTACCCCGTCTTACAGCATTCATTCATCTCAACGTCGCATCTGTGAGATCATGTACTCCCCGAGGGTGGGGTCGCATCACCTTCATCTTTGTAGCTTCAGAACTGGACACAGGGCCTGGCACGTTTCTGGTGTTCCGTCCCTGCTTGTTGAGTTGAATATCCCCTCATGAACCAGGCAGGTTTGATGGTAGAGTGCCGTGAGAGCCTTGGGCTGGGCTAACTGGCCTCTGGGTGGATGTGGGTTCTTTAGTCTTCAATCTGTAGACACATCCCTGGATGGAGGGCACTGGGCAGAGACTCAGCAAACCATGGTTCTGCCGTGCGGAGACACCGGAGCCCTGATGCAGTGGCCTGGCCCAGGCTGTCCTGGTGGAGACACTGGAGTCCTGATGCGGTGGCCTGGCCCAGGCTGTCCTGGTGGAGACACTGGAGCCCTGATGCAGTGGCCTGGCCCAGGCTGTCTTGGTGGAGAAAGTGCTGCCCGCCCCCCCAGCCCCCCTCTCACCTCTCCCCATACTACCCAGCACTCACTGCTTCAGCCACACAGGCCTCGCTGGCCCCTCTGCCTGGACCACTCCTGCCTGGGTGTGGCGGGCGTGCCCTCTCTCCAGATGAACCCTCTGCATGGTATCCCTTGACTGCCCTTACACGAGGCCTGTGAACAGGGCCTGGCACGTGGGCTGTCCTTGGACAAGTCCCTGTTCAGAAAGTTGTCCCTGAGGAATGAAACACTTCTGAGACTCCTGCATCCTGGCCCTCACTTCCACCGGGGGAAGATTGATTTCTTCAGATTTCGGTTGCCTTTTGAAACACTTCTCTGTTTCACTGTGGGTGTGTAGAAGCTATGAACTCGGAACTTTCGTTGTTTTCCGAGGACCGGAAGAAGATGTGCAAGAAATCCTGTCGAGTAGAATCTCATCACAGGGGCGTGGGCAGCCCAGGAGTTGGCGGGTATGTAGAGAGAGGTGTCAAAAATAGTAATTGAGAGTGAGCTTTGGGAGGAAGATGTTGGAAATAAAGATGGTGGAAGAAAGAGGAGTGCTGAGGAAAGGTGCTCTGAAAGATCGTCCTGGTGGGAGACACATGGGGATCTAGAGTGGAAATGTTACGGGATCTCTGGGGTGTTGATTTTTCTGGCTGGAAACCTCTGCGGCCGCAGCACCTTTGCCTCAGTTCTTGTCCTGCATCCAGGAAGAATGAGGTACGCAGATTAGTGAAGGGTGAAGAACAGTTTTATTTAGTGTTAGAACAGCTCAGAGTAGTGGGTAGCTCCTCTCTGTAGGCAGGTCATCCGTCGAGTGTTCAGCTGTCAGCAGAGGAGGCCCTGGAGAGGGTGGCTCCTCTCTGCAGGCAAGTCACTTGGACATCTCTGCAGGTCTCTGAAGCTCTCAGCAGAGAGCATAGATCCTCTCTGCCCTCTCCGTCCTCTGGCTGTCCTCTCGCCTTCTCTGACTGAGCCCAGGGCTTTTATGGACCTCAAGAGGGAAGGAAGGATGTGCCAATTGGTCCATGGGTGGCCATGGGCGGGCCTGGAATAGGTACCATGAGTCCTCACTCTGGTCCACAGGACTGGCAGCCCAGCTGCCAGCCTTCAGGCCCTTCCTGGCCTTCCACTGTCCCCTTCCACTCAGGACTCTGTCTGCCTCCCGCTGCCATTCATGGCCCTGGGGCTTGGCTCCAATCCCACTCTGAGATCCGAGTGGGTGCTGGGAGCTGAGAGAGGCCAGGCAGTGGAAGCAGACACCCATGACCCTGCAGGGATGGTGTG
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Task1_train_16212
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This is a variant in IGHMBP2 (immunoglobulin mu DNA binding protein 2), located on Chromosome 11. Is this mutation a likely cause of disease or not?
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Pathogenic; Autosomal recessive distal spinal muscular atrophy 1
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TCTGGAAGTCAGGTTCTCTTCCCACCCCGGGGTTTGTTGTTGTTGCCACTTGTTGTTTGTTTAGTGACTTTTCTGGACTAATTCTGTAAAATCTGTATTTTTTGTCTTGCGTGGCCACTAAAGTCTAATACAACTTAGTGGCCAGCTAGTGATTAGACAGAAATCCCCCTGAACTCCTGGAGCCATAAATGCCCCAGTCTTTGCTGAGTGGCTCTGTGTGTGTGCTTGGGCACACCTCCAACACAGAGCCAGGCTGTTTGTGACTCTCAGCTTTCACTTCCCGTTTGTGCAGTGCGTTGAGCTGAGCCACAGATGAGAGCTGAGGGCCTCCCGAGGTCTTTCCTGAGCCCTGTACATGTGTGTGGCCTTCTAGATTCCCAGGAATATGTTGGAGCTTTTCAAAGCCCCCTGAGGATATCTCATTCCCCAGCTTAAAACTTTGGTTATCCTATCATTTGCTCCGACCATTATTCTCTGTCTTAGAAAACTGTGATGTTCAACAATTACCTCTGATTGTTTTTGACAGACACCACCAGGGAAAAGGCTGTTTGTATTACATGAGCTCAGATAAAGTCTTTTGAGTGTGGTCTACCAGAGGATTCCCAGACAGATGAGATAAGCACAGTTTCTGGAGTGGGGCTTTTCAGGAATGCCAACCCTGTTCTGCACCCCCCGGGGCTGGCAGGTGCTGGTTTTCACCCTGACTTCAGGCTGAGGGTTTCAAGGCTGCCATAGGGATGGCTGGGAATAGGGCAGGTTTCAGTGCCACCGAGCTCCCGTGCTGACGGGGATTCAGATGCTTTTCTGGAATGAACACTTCCCTGATTGCTGCAGCCTTTGGCGAGTTTCCAGAGTTCTGAGAAAGTTGATTCTGACCATTTGCCGATGTCTTGTTGCTTTCGTGGAGGAGAGAATTCTCAGAGCTTGTGAGAGTCTCTTTGCTGACATCCTTCTCTGGCTTCAAGGACAGCACTTGCTGGAAATCAGGAGGCATCCCCTGAGCCCCACAAGGTCAGCTTGTGGCCTTTGTGGCCTTTCTGTTCCCTGCTGGTTGTTGGGGAACTAGAGTGAGTTCCTGGAAGTGCTTCTCCATCATGAAGTCTGGTTTCTCTCTGTACTGTGAAGTCACATCTGTGACCTAAACATGTCTCTTAATTATCCAAAGCCCAGCCAAGTTCTGTCTCCTCTGTGGGTGCTTTTTCTAGCCATCTCTGAAGAGTCAATCTTGAGAAATTTCTCAGTATGTCTTCATCATGGCATTATGTACATATCATTAGCATAATTCACTCAGATGGAAGGCAGAAAGGGTGGGAACTAACATTGATCACATTTATGGAAACCTGCCTTCTCGTGCTGGGCACTTTATATATGTTATCTCCCTTTGTGGTGCAATCTCATGACATGCAGTCATTGTCCATGTTTGTGGGTGAGGAAACAGGCTTAGGGGTGGGAGGCTCGCCTGAGGCCCCACACTGTTGGCTGGAGACAGCGTGGGGCCTGAGTCTTGCTCACAGCCTGAACGCTGCACTCTGCTGCTCCGCGTCCCAGGAAGGAAAAGCTGCTGCAGTGGGTTTGTGTTGCCAAATACATGGAGGCTTTTTTCTGGGTGAGTGCCCAGCAGTTGATTGTTCTGTATGTCCAAGAAAGTCACCTTAGAAAAGAATTAGGTTCTAAATTTAGAAAATAATTGAGTTACAATATTTAGAACTCAGACAGCATCCCTTGGGCTTGGGGTCACAGCCCCGAAGGGGTGATTAATTTTGCCAATTGAAGATCAGAGGGGCCTGTGGCCAGAGTACCCACTGCTTAAGACACAGGTGAGCTGGAACCATGAGTTTTAAAATGTCTTGGCCAAGTTTTTATTACAAGATACAAATTTATCCCACACAGTTGCAATGCAAGCCTTGATGAAACCCCAGCTTGATGGTGTCTCCTCTGGTGTGGCTGCGCTGTTGGGAAGCAGCTGTGCCCCTGGAGACTCCCGGCTCCCTGTTTCCACCAGGTGCGTCTGCCGATGGCCCCCTGAAGTTGCTGCCCGAGAGCTACTTCGACGTGGTGGTCATTGACGAGTGTGCCCAGGCCCTCGAGGCGAGCTGCTGGATCCCCCTGCTGAAGGCCAGAAAGTGCATCCTGGCGGGCGATCACAAGCAGCTGCCCCCCACCACAGTCTCTCACAAGTAAGACCCCTTTGCCTCACATGCCCTTCTCTGCCCCCGCCCTCCTGCGGTCCTTCCACGCTCAGCCAGGAGCCCCAGGCTCACCAGGAGCCCCTGCGGTGCCTCCTCGGTTTCTCGGCACAGCTCCTACCCCGTCTTACAGCATTCATTCATCTCAACGTCGCATCTGTGAGATCATGTACTCCCCGAGGGTGGGGTCGCATCACCTTCATCTTTGTAGCTTCAGAACTGGACACAGGGCCTGGCACGTTTCTGGTGTTCCGTCCCTGCTTGTTGAGTTGAATATCCCCTCATGAACCAGGCAGGTTTGATGGTAGAGTGCCGTGAGAGCCTTGGGCTGGGCTAACTGGCCTCTGGGTGGATGTGGGTTCTTTAGTCTTCAATCTGTAGACACATCCCTGGATGGAGGGCACTGGGCAGAGACTCAGCAAACCATGGTTCTGCCGTGCGGAGACACCGGAGCCCTGATGCAGTGGCCTGGCCCAGGCTGTCCTGGTGGAGACACTGGAGTCCTGATGCGGTGGCCTGGCCCAGGCTGTCCTGGTGGAGACACTGGAGCCCTGATGCAGTGGCCTGGCCCAGGCTGTCTTGGTGGAGAAAGTGCTGCCCGCCCCCCCAGCCCCCCTCTCACCTCTCCCCATACTACCCAGCACTCACTGCTTCAGCCACACAGGCCTCGCTGGCCCCTCTGCCTGGACCACTCCTGCCTGGGTGTGGCGGGCGTGCCCTCTCTCCAGATGAACCCTCTGCATGGTATCCCTTGACTGCCCTTACACGAGGCCTGTGAACAGGGCCTGGCACGTGGGCTGTCCTTGGACAAGTCCCTGTTCAGAAAGTTGTCCCTGAGGAATGAAACACTTCTGAGACTCCTGCATCCTGGCCCTCACTTCCACCGGGGGAAGATTGATTTCTTCAGATTTCGGTTGCCTTTTGAAACACTTCTCTGTTTCACTGTGGGTGTGTAGAAGCTATGAACTCGGAACTTTCGTTGTTTTCCGAGGACCGGAAGAAGATGTGCAAGAAATCCTGTCGAGTAGAATCTCATCACAGGGGCGTGGGCAGCCCAGGAGTTGGCGGGTATGTAGAGAGAGGTGTCAAAAATAGTAATTGAGAGTGAGCTTTGGGAGGAAGATGTTGGAAATAAAGATGGTGGAAGAAAGAGGAGTGCTGAGGAAAGGTGCTCTGAAAGATCGTCCTGGTGGGAGACACATGGGGATCTAGAGTGGAAATGTTACGGGATCTCTGGGGTGTTGATTTTTCTGGCTGGAAACCTCTGCGGCCGCAGCACCTTTGCCTCAGTTCTTGTCCTGCATCCAGGAAGAATGAGGTACGCAGATTAGTGAAGGGTGAAGAACAGTTTTATTTAGTGTTAGAACAGCTCAGAGTAGTGGGTAGCTCCTCTCTGTAGGCAGGTCATCCGTCGAGTGTTCAGCTGTCAGCAGAGGAGGCCCTGGAGAGGGTGGCTCCTCTCTGCAGGCAAGTCACTTGGACATCTCTGCAGGTCTCTGAAGCTCTCAGCAGAGAGCATAGATCCTCTCTGCCCTCTCCGTCCTCTGGCTGTCCTCTCGCCTTCTCTGACTGAGCCCAGGGCTTTTATGGACCTCAAGAGGGAAGGAAGGATGTGCCAATTGGTCCATGGGTGGCCATGGGCGGGCCTGGAATAGGTACCATGAGTCCTCACTCTGGTCCACAGGACTGGCAGCCCAGCTGCCAGCCTTCAGGCCCTTCCTGGCCTTCCACTGTCCCCTTCCACTCAGGACTCTGTCTGCCTCCCGCTGCCATTCATGGCCCTGGGGCTTGGCTCCAATCCCACTCTGAGATCCGAGTGGGTGCTGGGAGCTGAGAGAGGCCAGGCAGTGGAAGCAGACACCCATGACCCTGCAGGGATGGTGTGGGGGTTGTCCTTCCTGGGGCGCCTG
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TCTGGAAGTCAGGTTCTCTTCCCACCCCGGGGTTTGTTGTTGTTGCCACTTGTTGTTTGTTTAGTGACTTTTCTGGACTAATTCTGTAAAATCTGTATTTTTTGTCTTGCGTGGCCACTAAAGTCTAATACAACTTAGTGGCCAGCTAGTGATTAGACAGAAATCCCCCTGAACTCCTGGAGCCATAAATGCCCCAGTCTTTGCTGAGTGGCTCTGTGTGTGTGCTTGGGCACACCTCCAACACAGAGCCAGGCTGTTTGTGACTCTCAGCTTTCACTTCCCGTTTGTGCAGTGCGTTGAGCTGAGCCACAGATGAGAGCTGAGGGCCTCCCGAGGTCTTTCCTGAGCCCTGTACATGTGTGTGGCCTTCTAGATTCCCAGGAATATGTTGGAGCTTTTCAAAGCCCCCTGAGGATATCTCATTCCCCAGCTTAAAACTTTGGTTATCCTATCATTTGCTCCGACCATTATTCTCTGTCTTAGAAAACTGTGATGTTCAACAATTACCTCTGATTGTTTTTGACAGACACCACCAGGGAAAAGGCTGTTTGTATTACATGAGCTCAGATAAAGTCTTTTGAGTGTGGTCTACCAGAGGATTCCCAGACAGATGAGATAAGCACAGTTTCTGGAGTGGGGCTTTTCAGGAATGCCAACCCTGTTCTGCACCCCCCGGGGCTGGCAGGTGCTGGTTTTCACCCTGACTTCAGGCTGAGGGTTTCAAGGCTGCCATAGGGATGGCTGGGAATAGGGCAGGTTTCAGTGCCACCGAGCTCCCGTGCTGACGGGGATTCAGATGCTTTTCTGGAATGAACACTTCCCTGATTGCTGCAGCCTTTGGCGAGTTTCCAGAGTTCTGAGAAAGTTGATTCTGACCATTTGCCGATGTCTTGTTGCTTTCGTGGAGGAGAGAATTCTCAGAGCTTGTGAGAGTCTCTTTGCTGACATCCTTCTCTGGCTTCAAGGACAGCACTTGCTGGAAATCAGGAGGCATCCCCTGAGCCCCACAAGGTCAGCTTGTGGCCTTTGTGGCCTTTCTGTTCCCTGCTGGTTGTTGGGGAACTAGAGTGAGTTCCTGGAAGTGCTTCTCCATCATGAAGTCTGGTTTCTCTCTGTACTGTGAAGTCACATCTGTGACCTAAACATGTCTCTTAATTATCCAAAGCCCAGCCAAGTTCTGTCTCCTCTGTGGGTGCTTTTTCTAGCCATCTCTGAAGAGTCAATCTTGAGAAATTTCTCAGTATGTCTTCATCATGGCATTATGTACATATCATTAGCATAATTCACTCAGATGGAAGGCAGAAAGGGTGGGAACTAACATTGATCACATTTATGGAAACCTGCCTTCTCGTGCTGGGCACTTTATATATGTTATCTCCCTTTGTGGTGCAATCTCATGACATGCAGTCATTGTCCATGTTTGTGGGTGAGGAAACAGGCTTAGGGGTGGGAGGCTCGCCTGAGGCCCCACACTGTTGGCTGGAGACAGCGTGGGGCCTGAGTCTTGCTCACAGCCTGAACGCTGCACTCTGCTGCTCCGCGTCCCAGGAAGGAAAAGCTGCTGCAGTGGGTTTGTGTTGCCAAATACATGGAGGCTTTTTTCTGGGTGAGTGCCCAGCAGTTGATTGTTCTGTATGTCCAAGAAAGTCACCTTAGAAAAGAATTAGGTTCTAAATTTAGAAAATAATTGAGTTACAATATTTAGAACTCAGACAGCATCCCTTGGGCTTGGGGTCACAGCCCCGAAGGGGTGATTAATTTTGCCAATTGAAGATCAGAGGGGCCTGTGGCCAGAGTACCCACTGCTTAAGACACAGGTGAGCTGGAACCATGAGTTTTAAAATGTCTTGGCCAAGTTTTTATTACAAGATACAAATTTATCCCACACAGTTGCAATGCAAGCCTTGATGAAACCCCAGCTTGATGGTGTCTCCTCTGGTGTGGCTGCGCTGTTGGGAAGCAGCTGTGCCCCTGGAGACTCCCGGCTCCCTGTTTCCACCAGGTGCGTCTGCCGATGGCCCCCTGAAGTTGCTGCCCGAGAGCTACTTGGACGTGGTGGTCATTGACGAGTGTGCCCAGGCCCTCGAGGCGAGCTGCTGGATCCCCCTGCTGAAGGCCAGAAAGTGCATCCTGGCGGGCGATCACAAGCAGCTGCCCCCCACCACAGTCTCTCACAAGTAAGACCCCTTTGCCTCACATGCCCTTCTCTGCCCCCGCCCTCCTGCGGTCCTTCCACGCTCAGCCAGGAGCCCCAGGCTCACCAGGAGCCCCTGCGGTGCCTCCTCGGTTTCTCGGCACAGCTCCTACCCCGTCTTACAGCATTCATTCATCTCAACGTCGCATCTGTGAGATCATGTACTCCCCGAGGGTGGGGTCGCATCACCTTCATCTTTGTAGCTTCAGAACTGGACACAGGGCCTGGCACGTTTCTGGTGTTCCGTCCCTGCTTGTTGAGTTGAATATCCCCTCATGAACCAGGCAGGTTTGATGGTAGAGTGCCGTGAGAGCCTTGGGCTGGGCTAACTGGCCTCTGGGTGGATGTGGGTTCTTTAGTCTTCAATCTGTAGACACATCCCTGGATGGAGGGCACTGGGCAGAGACTCAGCAAACCATGGTTCTGCCGTGCGGAGACACCGGAGCCCTGATGCAGTGGCCTGGCCCAGGCTGTCCTGGTGGAGACACTGGAGTCCTGATGCGGTGGCCTGGCCCAGGCTGTCCTGGTGGAGACACTGGAGCCCTGATGCAGTGGCCTGGCCCAGGCTGTCTTGGTGGAGAAAGTGCTGCCCGCCCCCCCAGCCCCCCTCTCACCTCTCCCCATACTACCCAGCACTCACTGCTTCAGCCACACAGGCCTCGCTGGCCCCTCTGCCTGGACCACTCCTGCCTGGGTGTGGCGGGCGTGCCCTCTCTCCAGATGAACCCTCTGCATGGTATCCCTTGACTGCCCTTACACGAGGCCTGTGAACAGGGCCTGGCACGTGGGCTGTCCTTGGACAAGTCCCTGTTCAGAAAGTTGTCCCTGAGGAATGAAACACTTCTGAGACTCCTGCATCCTGGCCCTCACTTCCACCGGGGGAAGATTGATTTCTTCAGATTTCGGTTGCCTTTTGAAACACTTCTCTGTTTCACTGTGGGTGTGTAGAAGCTATGAACTCGGAACTTTCGTTGTTTTCCGAGGACCGGAAGAAGATGTGCAAGAAATCCTGTCGAGTAGAATCTCATCACAGGGGCGTGGGCAGCCCAGGAGTTGGCGGGTATGTAGAGAGAGGTGTCAAAAATAGTAATTGAGAGTGAGCTTTGGGAGGAAGATGTTGGAAATAAAGATGGTGGAAGAAAGAGGAGTGCTGAGGAAAGGTGCTCTGAAAGATCGTCCTGGTGGGAGACACATGGGGATCTAGAGTGGAAATGTTACGGGATCTCTGGGGTGTTGATTTTTCTGGCTGGAAACCTCTGCGGCCGCAGCACCTTTGCCTCAGTTCTTGTCCTGCATCCAGGAAGAATGAGGTACGCAGATTAGTGAAGGGTGAAGAACAGTTTTATTTAGTGTTAGAACAGCTCAGAGTAGTGGGTAGCTCCTCTCTGTAGGCAGGTCATCCGTCGAGTGTTCAGCTGTCAGCAGAGGAGGCCCTGGAGAGGGTGGCTCCTCTCTGCAGGCAAGTCACTTGGACATCTCTGCAGGTCTCTGAAGCTCTCAGCAGAGAGCATAGATCCTCTCTGCCCTCTCCGTCCTCTGGCTGTCCTCTCGCCTTCTCTGACTGAGCCCAGGGCTTTTATGGACCTCAAGAGGGAAGGAAGGATGTGCCAATTGGTCCATGGGTGGCCATGGGCGGGCCTGGAATAGGTACCATGAGTCCTCACTCTGGTCCACAGGACTGGCAGCCCAGCTGCCAGCCTTCAGGCCCTTCCTGGCCTTCCACTGTCCCCTTCCACTCAGGACTCTGTCTGCCTCCCGCTGCCATTCATGGCCCTGGGGCTTGGCTCCAATCCCACTCTGAGATCCGAGTGGGTGCTGGGAGCTGAGAGAGGCCAGGCAGTGGAAGCAGACACCCATGACCCTGCAGGGATGGTGTGGGGGTTGTCCTTCCTGGGGCGCCTG
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Task1_train_16213
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Located on Chromosome 11, this mutation impacts IGHMBP2 (immunoglobulin mu DNA binding protein 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Charcot-Marie-Tooth disease axonal type 2S
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GGTTCTCTTCCCACCCCGGGGTTTGTTGTTGTTGCCACTTGTTGTTTGTTTAGTGACTTTTCTGGACTAATTCTGTAAAATCTGTATTTTTTGTCTTGCGTGGCCACTAAAGTCTAATACAACTTAGTGGCCAGCTAGTGATTAGACAGAAATCCCCCTGAACTCCTGGAGCCATAAATGCCCCAGTCTTTGCTGAGTGGCTCTGTGTGTGTGCTTGGGCACACCTCCAACACAGAGCCAGGCTGTTTGTGACTCTCAGCTTTCACTTCCCGTTTGTGCAGTGCGTTGAGCTGAGCCACAGATGAGAGCTGAGGGCCTCCCGAGGTCTTTCCTGAGCCCTGTACATGTGTGTGGCCTTCTAGATTCCCAGGAATATGTTGGAGCTTTTCAAAGCCCCCTGAGGATATCTCATTCCCCAGCTTAAAACTTTGGTTATCCTATCATTTGCTCCGACCATTATTCTCTGTCTTAGAAAACTGTGATGTTCAACAATTACCTCTGATTGTTTTTGACAGACACCACCAGGGAAAAGGCTGTTTGTATTACATGAGCTCAGATAAAGTCTTTTGAGTGTGGTCTACCAGAGGATTCCCAGACAGATGAGATAAGCACAGTTTCTGGAGTGGGGCTTTTCAGGAATGCCAACCCTGTTCTGCACCCCCCGGGGCTGGCAGGTGCTGGTTTTCACCCTGACTTCAGGCTGAGGGTTTCAAGGCTGCCATAGGGATGGCTGGGAATAGGGCAGGTTTCAGTGCCACCGAGCTCCCGTGCTGACGGGGATTCAGATGCTTTTCTGGAATGAACACTTCCCTGATTGCTGCAGCCTTTGGCGAGTTTCCAGAGTTCTGAGAAAGTTGATTCTGACCATTTGCCGATGTCTTGTTGCTTTCGTGGAGGAGAGAATTCTCAGAGCTTGTGAGAGTCTCTTTGCTGACATCCTTCTCTGGCTTCAAGGACAGCACTTGCTGGAAATCAGGAGGCATCCCCTGAGCCCCACAAGGTCAGCTTGTGGCCTTTGTGGCCTTTCTGTTCCCTGCTGGTTGTTGGGGAACTAGAGTGAGTTCCTGGAAGTGCTTCTCCATCATGAAGTCTGGTTTCTCTCTGTACTGTGAAGTCACATCTGTGACCTAAACATGTCTCTTAATTATCCAAAGCCCAGCCAAGTTCTGTCTCCTCTGTGGGTGCTTTTTCTAGCCATCTCTGAAGAGTCAATCTTGAGAAATTTCTCAGTATGTCTTCATCATGGCATTATGTACATATCATTAGCATAATTCACTCAGATGGAAGGCAGAAAGGGTGGGAACTAACATTGATCACATTTATGGAAACCTGCCTTCTCGTGCTGGGCACTTTATATATGTTATCTCCCTTTGTGGTGCAATCTCATGACATGCAGTCATTGTCCATGTTTGTGGGTGAGGAAACAGGCTTAGGGGTGGGAGGCTCGCCTGAGGCCCCACACTGTTGGCTGGAGACAGCGTGGGGCCTGAGTCTTGCTCACAGCCTGAACGCTGCACTCTGCTGCTCCGCGTCCCAGGAAGGAAAAGCTGCTGCAGTGGGTTTGTGTTGCCAAATACATGGAGGCTTTTTTCTGGGTGAGTGCCCAGCAGTTGATTGTTCTGTATGTCCAAGAAAGTCACCTTAGAAAAGAATTAGGTTCTAAATTTAGAAAATAATTGAGTTACAATATTTAGAACTCAGACAGCATCCCTTGGGCTTGGGGTCACAGCCCCGAAGGGGTGATTAATTTTGCCAATTGAAGATCAGAGGGGCCTGTGGCCAGAGTACCCACTGCTTAAGACACAGGTGAGCTGGAACCATGAGTTTTAAAATGTCTTGGCCAAGTTTTTATTACAAGATACAAATTTATCCCACACAGTTGCAATGCAAGCCTTGATGAAACCCCAGCTTGATGGTGTCTCCTCTGGTGTGGCTGCGCTGTTGGGAAGCAGCTGTGCCCCTGGAGACTCCCGGCTCCCTGTTTCCACCAGGTGCGTCTGCCGATGGCCCCCTGAAGTTGCTGCCCGAGAGCTACTTCGACGTGGTGGTCATTGACGAGTGTGCCCAGGCCCTCGAGGCGAGCTGCTGGATCCCCCTGCTGAAGGCCAGAAAGTGCATCCTGGCGGGCGATCACAAGCAGCTGCCCCCCACCACAGTCTCTCACAAGTAAGACCCCTTTGCCTCACATGCCCTTCTCTGCCCCCGCCCTCCTGCGGTCCTTCCACGCTCAGCCAGGAGCCCCAGGCTCACCAGGAGCCCCTGCGGTGCCTCCTCGGTTTCTCGGCACAGCTCCTACCCCGTCTTACAGCATTCATTCATCTCAACGTCGCATCTGTGAGATCATGTACTCCCCGAGGGTGGGGTCGCATCACCTTCATCTTTGTAGCTTCAGAACTGGACACAGGGCCTGGCACGTTTCTGGTGTTCCGTCCCTGCTTGTTGAGTTGAATATCCCCTCATGAACCAGGCAGGTTTGATGGTAGAGTGCCGTGAGAGCCTTGGGCTGGGCTAACTGGCCTCTGGGTGGATGTGGGTTCTTTAGTCTTCAATCTGTAGACACATCCCTGGATGGAGGGCACTGGGCAGAGACTCAGCAAACCATGGTTCTGCCGTGCGGAGACACCGGAGCCCTGATGCAGTGGCCTGGCCCAGGCTGTCCTGGTGGAGACACTGGAGTCCTGATGCGGTGGCCTGGCCCAGGCTGTCCTGGTGGAGACACTGGAGCCCTGATGCAGTGGCCTGGCCCAGGCTGTCTTGGTGGAGAAAGTGCTGCCCGCCCCCCCAGCCCCCCTCTCACCTCTCCCCATACTACCCAGCACTCACTGCTTCAGCCACACAGGCCTCGCTGGCCCCTCTGCCTGGACCACTCCTGCCTGGGTGTGGCGGGCGTGCCCTCTCTCCAGATGAACCCTCTGCATGGTATCCCTTGACTGCCCTTACACGAGGCCTGTGAACAGGGCCTGGCACGTGGGCTGTCCTTGGACAAGTCCCTGTTCAGAAAGTTGTCCCTGAGGAATGAAACACTTCTGAGACTCCTGCATCCTGGCCCTCACTTCCACCGGGGGAAGATTGATTTCTTCAGATTTCGGTTGCCTTTTGAAACACTTCTCTGTTTCACTGTGGGTGTGTAGAAGCTATGAACTCGGAACTTTCGTTGTTTTCCGAGGACCGGAAGAAGATGTGCAAGAAATCCTGTCGAGTAGAATCTCATCACAGGGGCGTGGGCAGCCCAGGAGTTGGCGGGTATGTAGAGAGAGGTGTCAAAAATAGTAATTGAGAGTGAGCTTTGGGAGGAAGATGTTGGAAATAAAGATGGTGGAAGAAAGAGGAGTGCTGAGGAAAGGTGCTCTGAAAGATCGTCCTGGTGGGAGACACATGGGGATCTAGAGTGGAAATGTTACGGGATCTCTGGGGTGTTGATTTTTCTGGCTGGAAACCTCTGCGGCCGCAGCACCTTTGCCTCAGTTCTTGTCCTGCATCCAGGAAGAATGAGGTACGCAGATTAGTGAAGGGTGAAGAACAGTTTTATTTAGTGTTAGAACAGCTCAGAGTAGTGGGTAGCTCCTCTCTGTAGGCAGGTCATCCGTCGAGTGTTCAGCTGTCAGCAGAGGAGGCCCTGGAGAGGGTGGCTCCTCTCTGCAGGCAAGTCACTTGGACATCTCTGCAGGTCTCTGAAGCTCTCAGCAGAGAGCATAGATCCTCTCTGCCCTCTCCGTCCTCTGGCTGTCCTCTCGCCTTCTCTGACTGAGCCCAGGGCTTTTATGGACCTCAAGAGGGAAGGAAGGATGTGCCAATTGGTCCATGGGTGGCCATGGGCGGGCCTGGAATAGGTACCATGAGTCCTCACTCTGGTCCACAGGACTGGCAGCCCAGCTGCCAGCCTTCAGGCCCTTCCTGGCCTTCCACTGTCCCCTTCCACTCAGGACTCTGTCTGCCTCCCGCTGCCATTCATGGCCCTGGGGCTTGGCTCCAATCCCACTCTGAGATCCGAGTGGGTGCTGGGAGCTGAGAGAGGCCAGGCAGTGGAAGCAGACACCCATGACCCTGCAGGGATGGTGTGGGGGTTGTCCTTCCTGGGGCGCCTGAGGGTGCAGGC
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GGTTCTCTTCCCACCCCGGGGTTTGTTGTTGTTGCCACTTGTTGTTTGTTTAGTGACTTTTCTGGACTAATTCTGTAAAATCTGTATTTTTTGTCTTGCGTGGCCACTAAAGTCTAATACAACTTAGTGGCCAGCTAGTGATTAGACAGAAATCCCCCTGAACTCCTGGAGCCATAAATGCCCCAGTCTTTGCTGAGTGGCTCTGTGTGTGTGCTTGGGCACACCTCCAACACAGAGCCAGGCTGTTTGTGACTCTCAGCTTTCACTTCCCGTTTGTGCAGTGCGTTGAGCTGAGCCACAGATGAGAGCTGAGGGCCTCCCGAGGTCTTTCCTGAGCCCTGTACATGTGTGTGGCCTTCTAGATTCCCAGGAATATGTTGGAGCTTTTCAAAGCCCCCTGAGGATATCTCATTCCCCAGCTTAAAACTTTGGTTATCCTATCATTTGCTCCGACCATTATTCTCTGTCTTAGAAAACTGTGATGTTCAACAATTACCTCTGATTGTTTTTGACAGACACCACCAGGGAAAAGGCTGTTTGTATTACATGAGCTCAGATAAAGTCTTTTGAGTGTGGTCTACCAGAGGATTCCCAGACAGATGAGATAAGCACAGTTTCTGGAGTGGGGCTTTTCAGGAATGCCAACCCTGTTCTGCACCCCCCGGGGCTGGCAGGTGCTGGTTTTCACCCTGACTTCAGGCTGAGGGTTTCAAGGCTGCCATAGGGATGGCTGGGAATAGGGCAGGTTTCAGTGCCACCGAGCTCCCGTGCTGACGGGGATTCAGATGCTTTTCTGGAATGAACACTTCCCTGATTGCTGCAGCCTTTGGCGAGTTTCCAGAGTTCTGAGAAAGTTGATTCTGACCATTTGCCGATGTCTTGTTGCTTTCGTGGAGGAGAGAATTCTCAGAGCTTGTGAGAGTCTCTTTGCTGACATCCTTCTCTGGCTTCAAGGACAGCACTTGCTGGAAATCAGGAGGCATCCCCTGAGCCCCACAAGGTCAGCTTGTGGCCTTTGTGGCCTTTCTGTTCCCTGCTGGTTGTTGGGGAACTAGAGTGAGTTCCTGGAAGTGCTTCTCCATCATGAAGTCTGGTTTCTCTCTGTACTGTGAAGTCACATCTGTGACCTAAACATGTCTCTTAATTATCCAAAGCCCAGCCAAGTTCTGTCTCCTCTGTGGGTGCTTTTTCTAGCCATCTCTGAAGAGTCAATCTTGAGAAATTTCTCAGTATGTCTTCATCATGGCATTATGTACATATCATTAGCATAATTCACTCAGATGGAAGGCAGAAAGGGTGGGAACTAACATTGATCACATTTATGGAAACCTGCCTTCTCGTGCTGGGCACTTTATATATGTTATCTCCCTTTGTGGTGCAATCTCATGACATGCAGTCATTGTCCATGTTTGTGGGTGAGGAAACAGGCTTAGGGGTGGGAGGCTCGCCTGAGGCCCCACACTGTTGGCTGGAGACAGCGTGGGGCCTGAGTCTTGCTCACAGCCTGAACGCTGCACTCTGCTGCTCCGCGTCCCAGGAAGGAAAAGCTGCTGCAGTGGGTTTGTGTTGCCAAATACATGGAGGCTTTTTTCTGGGTGAGTGCCCAGCAGTTGATTGTTCTGTATGTCCAAGAAAGTCACCTTAGAAAAGAATTAGGTTCTAAATTTAGAAAATAATTGAGTTACAATATTTAGAACTCAGACAGCATCCCTTGGGCTTGGGGTCACAGCCCCGAAGGGGTGATTAATTTTGCCAATTGAAGATCAGAGGGGCCTGTGGCCAGAGTACCCACTGCTTAAGACACAGGTGAGCTGGAACCATGAGTTTTAAAATGTCTTGGCCAAGTTTTTATTACAAGATACAAATTTATCCCACACAGTTGCAATGCAAGCCTTGATGAAACCCCAGCTTGATGGTGTCTCCTCTGGTGTGGCTGCGCTGTTGGGAAGCAGCTGTGCCCCTGGAGACTCCCGGCTCCCTGTTTCCACCAGGTGCGTCTGCCGATGGCCCCCTGAAGTTGCTGCCCGAGAGCTACTTCGACGTGGTGGGCATTGACGAGTGTGCCCAGGCCCTCGAGGCGAGCTGCTGGATCCCCCTGCTGAAGGCCAGAAAGTGCATCCTGGCGGGCGATCACAAGCAGCTGCCCCCCACCACAGTCTCTCACAAGTAAGACCCCTTTGCCTCACATGCCCTTCTCTGCCCCCGCCCTCCTGCGGTCCTTCCACGCTCAGCCAGGAGCCCCAGGCTCACCAGGAGCCCCTGCGGTGCCTCCTCGGTTTCTCGGCACAGCTCCTACCCCGTCTTACAGCATTCATTCATCTCAACGTCGCATCTGTGAGATCATGTACTCCCCGAGGGTGGGGTCGCATCACCTTCATCTTTGTAGCTTCAGAACTGGACACAGGGCCTGGCACGTTTCTGGTGTTCCGTCCCTGCTTGTTGAGTTGAATATCCCCTCATGAACCAGGCAGGTTTGATGGTAGAGTGCCGTGAGAGCCTTGGGCTGGGCTAACTGGCCTCTGGGTGGATGTGGGTTCTTTAGTCTTCAATCTGTAGACACATCCCTGGATGGAGGGCACTGGGCAGAGACTCAGCAAACCATGGTTCTGCCGTGCGGAGACACCGGAGCCCTGATGCAGTGGCCTGGCCCAGGCTGTCCTGGTGGAGACACTGGAGTCCTGATGCGGTGGCCTGGCCCAGGCTGTCCTGGTGGAGACACTGGAGCCCTGATGCAGTGGCCTGGCCCAGGCTGTCTTGGTGGAGAAAGTGCTGCCCGCCCCCCCAGCCCCCCTCTCACCTCTCCCCATACTACCCAGCACTCACTGCTTCAGCCACACAGGCCTCGCTGGCCCCTCTGCCTGGACCACTCCTGCCTGGGTGTGGCGGGCGTGCCCTCTCTCCAGATGAACCCTCTGCATGGTATCCCTTGACTGCCCTTACACGAGGCCTGTGAACAGGGCCTGGCACGTGGGCTGTCCTTGGACAAGTCCCTGTTCAGAAAGTTGTCCCTGAGGAATGAAACACTTCTGAGACTCCTGCATCCTGGCCCTCACTTCCACCGGGGGAAGATTGATTTCTTCAGATTTCGGTTGCCTTTTGAAACACTTCTCTGTTTCACTGTGGGTGTGTAGAAGCTATGAACTCGGAACTTTCGTTGTTTTCCGAGGACCGGAAGAAGATGTGCAAGAAATCCTGTCGAGTAGAATCTCATCACAGGGGCGTGGGCAGCCCAGGAGTTGGCGGGTATGTAGAGAGAGGTGTCAAAAATAGTAATTGAGAGTGAGCTTTGGGAGGAAGATGTTGGAAATAAAGATGGTGGAAGAAAGAGGAGTGCTGAGGAAAGGTGCTCTGAAAGATCGTCCTGGTGGGAGACACATGGGGATCTAGAGTGGAAATGTTACGGGATCTCTGGGGTGTTGATTTTTCTGGCTGGAAACCTCTGCGGCCGCAGCACCTTTGCCTCAGTTCTTGTCCTGCATCCAGGAAGAATGAGGTACGCAGATTAGTGAAGGGTGAAGAACAGTTTTATTTAGTGTTAGAACAGCTCAGAGTAGTGGGTAGCTCCTCTCTGTAGGCAGGTCATCCGTCGAGTGTTCAGCTGTCAGCAGAGGAGGCCCTGGAGAGGGTGGCTCCTCTCTGCAGGCAAGTCACTTGGACATCTCTGCAGGTCTCTGAAGCTCTCAGCAGAGAGCATAGATCCTCTCTGCCCTCTCCGTCCTCTGGCTGTCCTCTCGCCTTCTCTGACTGAGCCCAGGGCTTTTATGGACCTCAAGAGGGAAGGAAGGATGTGCCAATTGGTCCATGGGTGGCCATGGGCGGGCCTGGAATAGGTACCATGAGTCCTCACTCTGGTCCACAGGACTGGCAGCCCAGCTGCCAGCCTTCAGGCCCTTCCTGGCCTTCCACTGTCCCCTTCCACTCAGGACTCTGTCTGCCTCCCGCTGCCATTCATGGCCCTGGGGCTTGGCTCCAATCCCACTCTGAGATCCGAGTGGGTGCTGGGAGCTGAGAGAGGCCAGGCAGTGGAAGCAGACACCCATGACCCTGCAGGGATGGTGTGGGGGTTGTCCTTCCTGGGGCGCCTGAGGGTGCAGGC
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Task1_train_16214
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Here’s a variant in IGHMBP2 (immunoglobulin mu DNA binding protein 2) located on Chromosome 11. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Autosomal recessive distal spinal muscular atrophy 1
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ACCCCGGGGTTTGTTGTTGTTGCCACTTGTTGTTTGTTTAGTGACTTTTCTGGACTAATTCTGTAAAATCTGTATTTTTTGTCTTGCGTGGCCACTAAAGTCTAATACAACTTAGTGGCCAGCTAGTGATTAGACAGAAATCCCCCTGAACTCCTGGAGCCATAAATGCCCCAGTCTTTGCTGAGTGGCTCTGTGTGTGTGCTTGGGCACACCTCCAACACAGAGCCAGGCTGTTTGTGACTCTCAGCTTTCACTTCCCGTTTGTGCAGTGCGTTGAGCTGAGCCACAGATGAGAGCTGAGGGCCTCCCGAGGTCTTTCCTGAGCCCTGTACATGTGTGTGGCCTTCTAGATTCCCAGGAATATGTTGGAGCTTTTCAAAGCCCCCTGAGGATATCTCATTCCCCAGCTTAAAACTTTGGTTATCCTATCATTTGCTCCGACCATTATTCTCTGTCTTAGAAAACTGTGATGTTCAACAATTACCTCTGATTGTTTTTGACAGACACCACCAGGGAAAAGGCTGTTTGTATTACATGAGCTCAGATAAAGTCTTTTGAGTGTGGTCTACCAGAGGATTCCCAGACAGATGAGATAAGCACAGTTTCTGGAGTGGGGCTTTTCAGGAATGCCAACCCTGTTCTGCACCCCCCGGGGCTGGCAGGTGCTGGTTTTCACCCTGACTTCAGGCTGAGGGTTTCAAGGCTGCCATAGGGATGGCTGGGAATAGGGCAGGTTTCAGTGCCACCGAGCTCCCGTGCTGACGGGGATTCAGATGCTTTTCTGGAATGAACACTTCCCTGATTGCTGCAGCCTTTGGCGAGTTTCCAGAGTTCTGAGAAAGTTGATTCTGACCATTTGCCGATGTCTTGTTGCTTTCGTGGAGGAGAGAATTCTCAGAGCTTGTGAGAGTCTCTTTGCTGACATCCTTCTCTGGCTTCAAGGACAGCACTTGCTGGAAATCAGGAGGCATCCCCTGAGCCCCACAAGGTCAGCTTGTGGCCTTTGTGGCCTTTCTGTTCCCTGCTGGTTGTTGGGGAACTAGAGTGAGTTCCTGGAAGTGCTTCTCCATCATGAAGTCTGGTTTCTCTCTGTACTGTGAAGTCACATCTGTGACCTAAACATGTCTCTTAATTATCCAAAGCCCAGCCAAGTTCTGTCTCCTCTGTGGGTGCTTTTTCTAGCCATCTCTGAAGAGTCAATCTTGAGAAATTTCTCAGTATGTCTTCATCATGGCATTATGTACATATCATTAGCATAATTCACTCAGATGGAAGGCAGAAAGGGTGGGAACTAACATTGATCACATTTATGGAAACCTGCCTTCTCGTGCTGGGCACTTTATATATGTTATCTCCCTTTGTGGTGCAATCTCATGACATGCAGTCATTGTCCATGTTTGTGGGTGAGGAAACAGGCTTAGGGGTGGGAGGCTCGCCTGAGGCCCCACACTGTTGGCTGGAGACAGCGTGGGGCCTGAGTCTTGCTCACAGCCTGAACGCTGCACTCTGCTGCTCCGCGTCCCAGGAAGGAAAAGCTGCTGCAGTGGGTTTGTGTTGCCAAATACATGGAGGCTTTTTTCTGGGTGAGTGCCCAGCAGTTGATTGTTCTGTATGTCCAAGAAAGTCACCTTAGAAAAGAATTAGGTTCTAAATTTAGAAAATAATTGAGTTACAATATTTAGAACTCAGACAGCATCCCTTGGGCTTGGGGTCACAGCCCCGAAGGGGTGATTAATTTTGCCAATTGAAGATCAGAGGGGCCTGTGGCCAGAGTACCCACTGCTTAAGACACAGGTGAGCTGGAACCATGAGTTTTAAAATGTCTTGGCCAAGTTTTTATTACAAGATACAAATTTATCCCACACAGTTGCAATGCAAGCCTTGATGAAACCCCAGCTTGATGGTGTCTCCTCTGGTGTGGCTGCGCTGTTGGGAAGCAGCTGTGCCCCTGGAGACTCCCGGCTCCCTGTTTCCACCAGGTGCGTCTGCCGATGGCCCCCTGAAGTTGCTGCCCGAGAGCTACTTCGACGTGGTGGTCATTGACGAGTGTGCCCAGGCCCTCGAGGCGAGCTGCTGGATCCCCCTGCTGAAGGCCAGAAAGTGCATCCTGGCGGGCGATCACAAGCAGCTGCCCCCCACCACAGTCTCTCACAAGTAAGACCCCTTTGCCTCACATGCCCTTCTCTGCCCCCGCCCTCCTGCGGTCCTTCCACGCTCAGCCAGGAGCCCCAGGCTCACCAGGAGCCCCTGCGGTGCCTCCTCGGTTTCTCGGCACAGCTCCTACCCCGTCTTACAGCATTCATTCATCTCAACGTCGCATCTGTGAGATCATGTACTCCCCGAGGGTGGGGTCGCATCACCTTCATCTTTGTAGCTTCAGAACTGGACACAGGGCCTGGCACGTTTCTGGTGTTCCGTCCCTGCTTGTTGAGTTGAATATCCCCTCATGAACCAGGCAGGTTTGATGGTAGAGTGCCGTGAGAGCCTTGGGCTGGGCTAACTGGCCTCTGGGTGGATGTGGGTTCTTTAGTCTTCAATCTGTAGACACATCCCTGGATGGAGGGCACTGGGCAGAGACTCAGCAAACCATGGTTCTGCCGTGCGGAGACACCGGAGCCCTGATGCAGTGGCCTGGCCCAGGCTGTCCTGGTGGAGACACTGGAGTCCTGATGCGGTGGCCTGGCCCAGGCTGTCCTGGTGGAGACACTGGAGCCCTGATGCAGTGGCCTGGCCCAGGCTGTCTTGGTGGAGAAAGTGCTGCCCGCCCCCCCAGCCCCCCTCTCACCTCTCCCCATACTACCCAGCACTCACTGCTTCAGCCACACAGGCCTCGCTGGCCCCTCTGCCTGGACCACTCCTGCCTGGGTGTGGCGGGCGTGCCCTCTCTCCAGATGAACCCTCTGCATGGTATCCCTTGACTGCCCTTACACGAGGCCTGTGAACAGGGCCTGGCACGTGGGCTGTCCTTGGACAAGTCCCTGTTCAGAAAGTTGTCCCTGAGGAATGAAACACTTCTGAGACTCCTGCATCCTGGCCCTCACTTCCACCGGGGGAAGATTGATTTCTTCAGATTTCGGTTGCCTTTTGAAACACTTCTCTGTTTCACTGTGGGTGTGTAGAAGCTATGAACTCGGAACTTTCGTTGTTTTCCGAGGACCGGAAGAAGATGTGCAAGAAATCCTGTCGAGTAGAATCTCATCACAGGGGCGTGGGCAGCCCAGGAGTTGGCGGGTATGTAGAGAGAGGTGTCAAAAATAGTAATTGAGAGTGAGCTTTGGGAGGAAGATGTTGGAAATAAAGATGGTGGAAGAAAGAGGAGTGCTGAGGAAAGGTGCTCTGAAAGATCGTCCTGGTGGGAGACACATGGGGATCTAGAGTGGAAATGTTACGGGATCTCTGGGGTGTTGATTTTTCTGGCTGGAAACCTCTGCGGCCGCAGCACCTTTGCCTCAGTTCTTGTCCTGCATCCAGGAAGAATGAGGTACGCAGATTAGTGAAGGGTGAAGAACAGTTTTATTTAGTGTTAGAACAGCTCAGAGTAGTGGGTAGCTCCTCTCTGTAGGCAGGTCATCCGTCGAGTGTTCAGCTGTCAGCAGAGGAGGCCCTGGAGAGGGTGGCTCCTCTCTGCAGGCAAGTCACTTGGACATCTCTGCAGGTCTCTGAAGCTCTCAGCAGAGAGCATAGATCCTCTCTGCCCTCTCCGTCCTCTGGCTGTCCTCTCGCCTTCTCTGACTGAGCCCAGGGCTTTTATGGACCTCAAGAGGGAAGGAAGGATGTGCCAATTGGTCCATGGGTGGCCATGGGCGGGCCTGGAATAGGTACCATGAGTCCTCACTCTGGTCCACAGGACTGGCAGCCCAGCTGCCAGCCTTCAGGCCCTTCCTGGCCTTCCACTGTCCCCTTCCACTCAGGACTCTGTCTGCCTCCCGCTGCCATTCATGGCCCTGGGGCTTGGCTCCAATCCCACTCTGAGATCCGAGTGGGTGCTGGGAGCTGAGAGAGGCCAGGCAGTGGAAGCAGACACCCATGACCCTGCAGGGATGGTGTGGGGGTTGTCCTTCCTGGGGCGCCTGAGGGTGCAGGCTGCAGAGTGGGA
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ACCCCGGGGTTTGTTGTTGTTGCCACTTGTTGTTTGTTTAGTGACTTTTCTGGACTAATTCTGTAAAATCTGTATTTTTTGTCTTGCGTGGCCACTAAAGTCTAATACAACTTAGTGGCCAGCTAGTGATTAGACAGAAATCCCCCTGAACTCCTGGAGCCATAAATGCCCCAGTCTTTGCTGAGTGGCTCTGTGTGTGTGCTTGGGCACACCTCCAACACAGAGCCAGGCTGTTTGTGACTCTCAGCTTTCACTTCCCGTTTGTGCAGTGCGTTGAGCTGAGCCACAGATGAGAGCTGAGGGCCTCCCGAGGTCTTTCCTGAGCCCTGTACATGTGTGTGGCCTTCTAGATTCCCAGGAATATGTTGGAGCTTTTCAAAGCCCCCTGAGGATATCTCATTCCCCAGCTTAAAACTTTGGTTATCCTATCATTTGCTCCGACCATTATTCTCTGTCTTAGAAAACTGTGATGTTCAACAATTACCTCTGATTGTTTTTGACAGACACCACCAGGGAAAAGGCTGTTTGTATTACATGAGCTCAGATAAAGTCTTTTGAGTGTGGTCTACCAGAGGATTCCCAGACAGATGAGATAAGCACAGTTTCTGGAGTGGGGCTTTTCAGGAATGCCAACCCTGTTCTGCACCCCCCGGGGCTGGCAGGTGCTGGTTTTCACCCTGACTTCAGGCTGAGGGTTTCAAGGCTGCCATAGGGATGGCTGGGAATAGGGCAGGTTTCAGTGCCACCGAGCTCCCGTGCTGACGGGGATTCAGATGCTTTTCTGGAATGAACACTTCCCTGATTGCTGCAGCCTTTGGCGAGTTTCCAGAGTTCTGAGAAAGTTGATTCTGACCATTTGCCGATGTCTTGTTGCTTTCGTGGAGGAGAGAATTCTCAGAGCTTGTGAGAGTCTCTTTGCTGACATCCTTCTCTGGCTTCAAGGACAGCACTTGCTGGAAATCAGGAGGCATCCCCTGAGCCCCACAAGGTCAGCTTGTGGCCTTTGTGGCCTTTCTGTTCCCTGCTGGTTGTTGGGGAACTAGAGTGAGTTCCTGGAAGTGCTTCTCCATCATGAAGTCTGGTTTCTCTCTGTACTGTGAAGTCACATCTGTGACCTAAACATGTCTCTTAATTATCCAAAGCCCAGCCAAGTTCTGTCTCCTCTGTGGGTGCTTTTTCTAGCCATCTCTGAAGAGTCAATCTTGAGAAATTTCTCAGTATGTCTTCATCATGGCATTATGTACATATCATTAGCATAATTCACTCAGATGGAAGGCAGAAAGGGTGGGAACTAACATTGATCACATTTATGGAAACCTGCCTTCTCGTGCTGGGCACTTTATATATGTTATCTCCCTTTGTGGTGCAATCTCATGACATGCAGTCATTGTCCATGTTTGTGGGTGAGGAAACAGGCTTAGGGGTGGGAGGCTCGCCTGAGGCCCCACACTGTTGGCTGGAGACAGCGTGGGGCCTGAGTCTTGCTCACAGCCTGAACGCTGCACTCTGCTGCTCCGCGTCCCAGGAAGGAAAAGCTGCTGCAGTGGGTTTGTGTTGCCAAATACATGGAGGCTTTTTTCTGGGTGAGTGCCCAGCAGTTGATTGTTCTGTATGTCCAAGAAAGTCACCTTAGAAAAGAATTAGGTTCTAAATTTAGAAAATAATTGAGTTACAATATTTAGAACTCAGACAGCATCCCTTGGGCTTGGGGTCACAGCCCCGAAGGGGTGATTAATTTTGCCAATTGAAGATCAGAGGGGCCTGTGGCCAGAGTACCCACTGCTTAAGACACAGGTGAGCTGGAACCATGAGTTTTAAAATGTCTTGGCCAAGTTTTTATTACAAGATACAAATTTATCCCACACAGTTGCAATGCAAGCCTTGATGAAACCCCAGCTTGATGGTGTCTCCTCTGGTGTGGCTGCGCTGTTGGGAAGCAGCTGTGCCCCTGGAGACTCCCGGCTCCCTGTTTCCACCAGGTGCGTCTGCCGATGGCCCCCTGAAGTTGCTGCCCGAGAGCTACTTCGACGTGGTGGTCATTGACGAGTATGCCCAGGCCCTCGAGGCGAGCTGCTGGATCCCCCTGCTGAAGGCCAGAAAGTGCATCCTGGCGGGCGATCACAAGCAGCTGCCCCCCACCACAGTCTCTCACAAGTAAGACCCCTTTGCCTCACATGCCCTTCTCTGCCCCCGCCCTCCTGCGGTCCTTCCACGCTCAGCCAGGAGCCCCAGGCTCACCAGGAGCCCCTGCGGTGCCTCCTCGGTTTCTCGGCACAGCTCCTACCCCGTCTTACAGCATTCATTCATCTCAACGTCGCATCTGTGAGATCATGTACTCCCCGAGGGTGGGGTCGCATCACCTTCATCTTTGTAGCTTCAGAACTGGACACAGGGCCTGGCACGTTTCTGGTGTTCCGTCCCTGCTTGTTGAGTTGAATATCCCCTCATGAACCAGGCAGGTTTGATGGTAGAGTGCCGTGAGAGCCTTGGGCTGGGCTAACTGGCCTCTGGGTGGATGTGGGTTCTTTAGTCTTCAATCTGTAGACACATCCCTGGATGGAGGGCACTGGGCAGAGACTCAGCAAACCATGGTTCTGCCGTGCGGAGACACCGGAGCCCTGATGCAGTGGCCTGGCCCAGGCTGTCCTGGTGGAGACACTGGAGTCCTGATGCGGTGGCCTGGCCCAGGCTGTCCTGGTGGAGACACTGGAGCCCTGATGCAGTGGCCTGGCCCAGGCTGTCTTGGTGGAGAAAGTGCTGCCCGCCCCCCCAGCCCCCCTCTCACCTCTCCCCATACTACCCAGCACTCACTGCTTCAGCCACACAGGCCTCGCTGGCCCCTCTGCCTGGACCACTCCTGCCTGGGTGTGGCGGGCGTGCCCTCTCTCCAGATGAACCCTCTGCATGGTATCCCTTGACTGCCCTTACACGAGGCCTGTGAACAGGGCCTGGCACGTGGGCTGTCCTTGGACAAGTCCCTGTTCAGAAAGTTGTCCCTGAGGAATGAAACACTTCTGAGACTCCTGCATCCTGGCCCTCACTTCCACCGGGGGAAGATTGATTTCTTCAGATTTCGGTTGCCTTTTGAAACACTTCTCTGTTTCACTGTGGGTGTGTAGAAGCTATGAACTCGGAACTTTCGTTGTTTTCCGAGGACCGGAAGAAGATGTGCAAGAAATCCTGTCGAGTAGAATCTCATCACAGGGGCGTGGGCAGCCCAGGAGTTGGCGGGTATGTAGAGAGAGGTGTCAAAAATAGTAATTGAGAGTGAGCTTTGGGAGGAAGATGTTGGAAATAAAGATGGTGGAAGAAAGAGGAGTGCTGAGGAAAGGTGCTCTGAAAGATCGTCCTGGTGGGAGACACATGGGGATCTAGAGTGGAAATGTTACGGGATCTCTGGGGTGTTGATTTTTCTGGCTGGAAACCTCTGCGGCCGCAGCACCTTTGCCTCAGTTCTTGTCCTGCATCCAGGAAGAATGAGGTACGCAGATTAGTGAAGGGTGAAGAACAGTTTTATTTAGTGTTAGAACAGCTCAGAGTAGTGGGTAGCTCCTCTCTGTAGGCAGGTCATCCGTCGAGTGTTCAGCTGTCAGCAGAGGAGGCCCTGGAGAGGGTGGCTCCTCTCTGCAGGCAAGTCACTTGGACATCTCTGCAGGTCTCTGAAGCTCTCAGCAGAGAGCATAGATCCTCTCTGCCCTCTCCGTCCTCTGGCTGTCCTCTCGCCTTCTCTGACTGAGCCCAGGGCTTTTATGGACCTCAAGAGGGAAGGAAGGATGTGCCAATTGGTCCATGGGTGGCCATGGGCGGGCCTGGAATAGGTACCATGAGTCCTCACTCTGGTCCACAGGACTGGCAGCCCAGCTGCCAGCCTTCAGGCCCTTCCTGGCCTTCCACTGTCCCCTTCCACTCAGGACTCTGTCTGCCTCCCGCTGCCATTCATGGCCCTGGGGCTTGGCTCCAATCCCACTCTGAGATCCGAGTGGGTGCTGGGAGCTGAGAGAGGCCAGGCAGTGGAAGCAGACACCCATGACCCTGCAGGGATGGTGTGGGGGTTGTCCTTCCTGGGGCGCCTGAGGGTGCAGGCTGCAGAGTGGGA
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Task1_train_16215
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This alteration occurs within gene IGHMBP2 (immunoglobulin mu DNA binding protein 2) located on Chromosome 11. Is it associated with a disease or is it a benign variant?
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Pathogenic; Charcot-Marie-Tooth disease axonal type 2S
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ACCCCGGGGTTTGTTGTTGTTGCCACTTGTTGTTTGTTTAGTGACTTTTCTGGACTAATTCTGTAAAATCTGTATTTTTTGTCTTGCGTGGCCACTAAAGTCTAATACAACTTAGTGGCCAGCTAGTGATTAGACAGAAATCCCCCTGAACTCCTGGAGCCATAAATGCCCCAGTCTTTGCTGAGTGGCTCTGTGTGTGTGCTTGGGCACACCTCCAACACAGAGCCAGGCTGTTTGTGACTCTCAGCTTTCACTTCCCGTTTGTGCAGTGCGTTGAGCTGAGCCACAGATGAGAGCTGAGGGCCTCCCGAGGTCTTTCCTGAGCCCTGTACATGTGTGTGGCCTTCTAGATTCCCAGGAATATGTTGGAGCTTTTCAAAGCCCCCTGAGGATATCTCATTCCCCAGCTTAAAACTTTGGTTATCCTATCATTTGCTCCGACCATTATTCTCTGTCTTAGAAAACTGTGATGTTCAACAATTACCTCTGATTGTTTTTGACAGACACCACCAGGGAAAAGGCTGTTTGTATTACATGAGCTCAGATAAAGTCTTTTGAGTGTGGTCTACCAGAGGATTCCCAGACAGATGAGATAAGCACAGTTTCTGGAGTGGGGCTTTTCAGGAATGCCAACCCTGTTCTGCACCCCCCGGGGCTGGCAGGTGCTGGTTTTCACCCTGACTTCAGGCTGAGGGTTTCAAGGCTGCCATAGGGATGGCTGGGAATAGGGCAGGTTTCAGTGCCACCGAGCTCCCGTGCTGACGGGGATTCAGATGCTTTTCTGGAATGAACACTTCCCTGATTGCTGCAGCCTTTGGCGAGTTTCCAGAGTTCTGAGAAAGTTGATTCTGACCATTTGCCGATGTCTTGTTGCTTTCGTGGAGGAGAGAATTCTCAGAGCTTGTGAGAGTCTCTTTGCTGACATCCTTCTCTGGCTTCAAGGACAGCACTTGCTGGAAATCAGGAGGCATCCCCTGAGCCCCACAAGGTCAGCTTGTGGCCTTTGTGGCCTTTCTGTTCCCTGCTGGTTGTTGGGGAACTAGAGTGAGTTCCTGGAAGTGCTTCTCCATCATGAAGTCTGGTTTCTCTCTGTACTGTGAAGTCACATCTGTGACCTAAACATGTCTCTTAATTATCCAAAGCCCAGCCAAGTTCTGTCTCCTCTGTGGGTGCTTTTTCTAGCCATCTCTGAAGAGTCAATCTTGAGAAATTTCTCAGTATGTCTTCATCATGGCATTATGTACATATCATTAGCATAATTCACTCAGATGGAAGGCAGAAAGGGTGGGAACTAACATTGATCACATTTATGGAAACCTGCCTTCTCGTGCTGGGCACTTTATATATGTTATCTCCCTTTGTGGTGCAATCTCATGACATGCAGTCATTGTCCATGTTTGTGGGTGAGGAAACAGGCTTAGGGGTGGGAGGCTCGCCTGAGGCCCCACACTGTTGGCTGGAGACAGCGTGGGGCCTGAGTCTTGCTCACAGCCTGAACGCTGCACTCTGCTGCTCCGCGTCCCAGGAAGGAAAAGCTGCTGCAGTGGGTTTGTGTTGCCAAATACATGGAGGCTTTTTTCTGGGTGAGTGCCCAGCAGTTGATTGTTCTGTATGTCCAAGAAAGTCACCTTAGAAAAGAATTAGGTTCTAAATTTAGAAAATAATTGAGTTACAATATTTAGAACTCAGACAGCATCCCTTGGGCTTGGGGTCACAGCCCCGAAGGGGTGATTAATTTTGCCAATTGAAGATCAGAGGGGCCTGTGGCCAGAGTACCCACTGCTTAAGACACAGGTGAGCTGGAACCATGAGTTTTAAAATGTCTTGGCCAAGTTTTTATTACAAGATACAAATTTATCCCACACAGTTGCAATGCAAGCCTTGATGAAACCCCAGCTTGATGGTGTCTCCTCTGGTGTGGCTGCGCTGTTGGGAAGCAGCTGTGCCCCTGGAGACTCCCGGCTCCCTGTTTCCACCAGGTGCGTCTGCCGATGGCCCCCTGAAGTTGCTGCCCGAGAGCTACTTCGACGTGGTGGTCATTGACGAGTGTGCCCAGGCCCTCGAGGCGAGCTGCTGGATCCCCCTGCTGAAGGCCAGAAAGTGCATCCTGGCGGGCGATCACAAGCAGCTGCCCCCCACCACAGTCTCTCACAAGTAAGACCCCTTTGCCTCACATGCCCTTCTCTGCCCCCGCCCTCCTGCGGTCCTTCCACGCTCAGCCAGGAGCCCCAGGCTCACCAGGAGCCCCTGCGGTGCCTCCTCGGTTTCTCGGCACAGCTCCTACCCCGTCTTACAGCATTCATTCATCTCAACGTCGCATCTGTGAGATCATGTACTCCCCGAGGGTGGGGTCGCATCACCTTCATCTTTGTAGCTTCAGAACTGGACACAGGGCCTGGCACGTTTCTGGTGTTCCGTCCCTGCTTGTTGAGTTGAATATCCCCTCATGAACCAGGCAGGTTTGATGGTAGAGTGCCGTGAGAGCCTTGGGCTGGGCTAACTGGCCTCTGGGTGGATGTGGGTTCTTTAGTCTTCAATCTGTAGACACATCCCTGGATGGAGGGCACTGGGCAGAGACTCAGCAAACCATGGTTCTGCCGTGCGGAGACACCGGAGCCCTGATGCAGTGGCCTGGCCCAGGCTGTCCTGGTGGAGACACTGGAGTCCTGATGCGGTGGCCTGGCCCAGGCTGTCCTGGTGGAGACACTGGAGCCCTGATGCAGTGGCCTGGCCCAGGCTGTCTTGGTGGAGAAAGTGCTGCCCGCCCCCCCAGCCCCCCTCTCACCTCTCCCCATACTACCCAGCACTCACTGCTTCAGCCACACAGGCCTCGCTGGCCCCTCTGCCTGGACCACTCCTGCCTGGGTGTGGCGGGCGTGCCCTCTCTCCAGATGAACCCTCTGCATGGTATCCCTTGACTGCCCTTACACGAGGCCTGTGAACAGGGCCTGGCACGTGGGCTGTCCTTGGACAAGTCCCTGTTCAGAAAGTTGTCCCTGAGGAATGAAACACTTCTGAGACTCCTGCATCCTGGCCCTCACTTCCACCGGGGGAAGATTGATTTCTTCAGATTTCGGTTGCCTTTTGAAACACTTCTCTGTTTCACTGTGGGTGTGTAGAAGCTATGAACTCGGAACTTTCGTTGTTTTCCGAGGACCGGAAGAAGATGTGCAAGAAATCCTGTCGAGTAGAATCTCATCACAGGGGCGTGGGCAGCCCAGGAGTTGGCGGGTATGTAGAGAGAGGTGTCAAAAATAGTAATTGAGAGTGAGCTTTGGGAGGAAGATGTTGGAAATAAAGATGGTGGAAGAAAGAGGAGTGCTGAGGAAAGGTGCTCTGAAAGATCGTCCTGGTGGGAGACACATGGGGATCTAGAGTGGAAATGTTACGGGATCTCTGGGGTGTTGATTTTTCTGGCTGGAAACCTCTGCGGCCGCAGCACCTTTGCCTCAGTTCTTGTCCTGCATCCAGGAAGAATGAGGTACGCAGATTAGTGAAGGGTGAAGAACAGTTTTATTTAGTGTTAGAACAGCTCAGAGTAGTGGGTAGCTCCTCTCTGTAGGCAGGTCATCCGTCGAGTGTTCAGCTGTCAGCAGAGGAGGCCCTGGAGAGGGTGGCTCCTCTCTGCAGGCAAGTCACTTGGACATCTCTGCAGGTCTCTGAAGCTCTCAGCAGAGAGCATAGATCCTCTCTGCCCTCTCCGTCCTCTGGCTGTCCTCTCGCCTTCTCTGACTGAGCCCAGGGCTTTTATGGACCTCAAGAGGGAAGGAAGGATGTGCCAATTGGTCCATGGGTGGCCATGGGCGGGCCTGGAATAGGTACCATGAGTCCTCACTCTGGTCCACAGGACTGGCAGCCCAGCTGCCAGCCTTCAGGCCCTTCCTGGCCTTCCACTGTCCCCTTCCACTCAGGACTCTGTCTGCCTCCCGCTGCCATTCATGGCCCTGGGGCTTGGCTCCAATCCCACTCTGAGATCCGAGTGGGTGCTGGGAGCTGAGAGAGGCCAGGCAGTGGAAGCAGACACCCATGACCCTGCAGGGATGGTGTGGGGGTTGTCCTTCCTGGGGCGCCTGAGGGTGCAGGCTGCAGAGTGGGA
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ACCCCGGGGTTTGTTGTTGTTGCCACTTGTTGTTTGTTTAGTGACTTTTCTGGACTAATTCTGTAAAATCTGTATTTTTTGTCTTGCGTGGCCACTAAAGTCTAATACAACTTAGTGGCCAGCTAGTGATTAGACAGAAATCCCCCTGAACTCCTGGAGCCATAAATGCCCCAGTCTTTGCTGAGTGGCTCTGTGTGTGTGCTTGGGCACACCTCCAACACAGAGCCAGGCTGTTTGTGACTCTCAGCTTTCACTTCCCGTTTGTGCAGTGCGTTGAGCTGAGCCACAGATGAGAGCTGAGGGCCTCCCGAGGTCTTTCCTGAGCCCTGTACATGTGTGTGGCCTTCTAGATTCCCAGGAATATGTTGGAGCTTTTCAAAGCCCCCTGAGGATATCTCATTCCCCAGCTTAAAACTTTGGTTATCCTATCATTTGCTCCGACCATTATTCTCTGTCTTAGAAAACTGTGATGTTCAACAATTACCTCTGATTGTTTTTGACAGACACCACCAGGGAAAAGGCTGTTTGTATTACATGAGCTCAGATAAAGTCTTTTGAGTGTGGTCTACCAGAGGATTCCCAGACAGATGAGATAAGCACAGTTTCTGGAGTGGGGCTTTTCAGGAATGCCAACCCTGTTCTGCACCCCCCGGGGCTGGCAGGTGCTGGTTTTCACCCTGACTTCAGGCTGAGGGTTTCAAGGCTGCCATAGGGATGGCTGGGAATAGGGCAGGTTTCAGTGCCACCGAGCTCCCGTGCTGACGGGGATTCAGATGCTTTTCTGGAATGAACACTTCCCTGATTGCTGCAGCCTTTGGCGAGTTTCCAGAGTTCTGAGAAAGTTGATTCTGACCATTTGCCGATGTCTTGTTGCTTTCGTGGAGGAGAGAATTCTCAGAGCTTGTGAGAGTCTCTTTGCTGACATCCTTCTCTGGCTTCAAGGACAGCACTTGCTGGAAATCAGGAGGCATCCCCTGAGCCCCACAAGGTCAGCTTGTGGCCTTTGTGGCCTTTCTGTTCCCTGCTGGTTGTTGGGGAACTAGAGTGAGTTCCTGGAAGTGCTTCTCCATCATGAAGTCTGGTTTCTCTCTGTACTGTGAAGTCACATCTGTGACCTAAACATGTCTCTTAATTATCCAAAGCCCAGCCAAGTTCTGTCTCCTCTGTGGGTGCTTTTTCTAGCCATCTCTGAAGAGTCAATCTTGAGAAATTTCTCAGTATGTCTTCATCATGGCATTATGTACATATCATTAGCATAATTCACTCAGATGGAAGGCAGAAAGGGTGGGAACTAACATTGATCACATTTATGGAAACCTGCCTTCTCGTGCTGGGCACTTTATATATGTTATCTCCCTTTGTGGTGCAATCTCATGACATGCAGTCATTGTCCATGTTTGTGGGTGAGGAAACAGGCTTAGGGGTGGGAGGCTCGCCTGAGGCCCCACACTGTTGGCTGGAGACAGCGTGGGGCCTGAGTCTTGCTCACAGCCTGAACGCTGCACTCTGCTGCTCCGCGTCCCAGGAAGGAAAAGCTGCTGCAGTGGGTTTGTGTTGCCAAATACATGGAGGCTTTTTTCTGGGTGAGTGCCCAGCAGTTGATTGTTCTGTATGTCCAAGAAAGTCACCTTAGAAAAGAATTAGGTTCTAAATTTAGAAAATAATTGAGTTACAATATTTAGAACTCAGACAGCATCCCTTGGGCTTGGGGTCACAGCCCCGAAGGGGTGATTAATTTTGCCAATTGAAGATCAGAGGGGCCTGTGGCCAGAGTACCCACTGCTTAAGACACAGGTGAGCTGGAACCATGAGTTTTAAAATGTCTTGGCCAAGTTTTTATTACAAGATACAAATTTATCCCACACAGTTGCAATGCAAGCCTTGATGAAACCCCAGCTTGATGGTGTCTCCTCTGGTGTGGCTGCGCTGTTGGGAAGCAGCTGTGCCCCTGGAGACTCCCGGCTCCCTGTTTCCACCAGGTGCGTCTGCCGATGGCCCCCTGAAGTTGCTGCCCGAGAGCTACTTCGACGTGGTGGTCATTGACGAGTATGCCCAGGCCCTCGAGGCGAGCTGCTGGATCCCCCTGCTGAAGGCCAGAAAGTGCATCCTGGCGGGCGATCACAAGCAGCTGCCCCCCACCACAGTCTCTCACAAGTAAGACCCCTTTGCCTCACATGCCCTTCTCTGCCCCCGCCCTCCTGCGGTCCTTCCACGCTCAGCCAGGAGCCCCAGGCTCACCAGGAGCCCCTGCGGTGCCTCCTCGGTTTCTCGGCACAGCTCCTACCCCGTCTTACAGCATTCATTCATCTCAACGTCGCATCTGTGAGATCATGTACTCCCCGAGGGTGGGGTCGCATCACCTTCATCTTTGTAGCTTCAGAACTGGACACAGGGCCTGGCACGTTTCTGGTGTTCCGTCCCTGCTTGTTGAGTTGAATATCCCCTCATGAACCAGGCAGGTTTGATGGTAGAGTGCCGTGAGAGCCTTGGGCTGGGCTAACTGGCCTCTGGGTGGATGTGGGTTCTTTAGTCTTCAATCTGTAGACACATCCCTGGATGGAGGGCACTGGGCAGAGACTCAGCAAACCATGGTTCTGCCGTGCGGAGACACCGGAGCCCTGATGCAGTGGCCTGGCCCAGGCTGTCCTGGTGGAGACACTGGAGTCCTGATGCGGTGGCCTGGCCCAGGCTGTCCTGGTGGAGACACTGGAGCCCTGATGCAGTGGCCTGGCCCAGGCTGTCTTGGTGGAGAAAGTGCTGCCCGCCCCCCCAGCCCCCCTCTCACCTCTCCCCATACTACCCAGCACTCACTGCTTCAGCCACACAGGCCTCGCTGGCCCCTCTGCCTGGACCACTCCTGCCTGGGTGTGGCGGGCGTGCCCTCTCTCCAGATGAACCCTCTGCATGGTATCCCTTGACTGCCCTTACACGAGGCCTGTGAACAGGGCCTGGCACGTGGGCTGTCCTTGGACAAGTCCCTGTTCAGAAAGTTGTCCCTGAGGAATGAAACACTTCTGAGACTCCTGCATCCTGGCCCTCACTTCCACCGGGGGAAGATTGATTTCTTCAGATTTCGGTTGCCTTTTGAAACACTTCTCTGTTTCACTGTGGGTGTGTAGAAGCTATGAACTCGGAACTTTCGTTGTTTTCCGAGGACCGGAAGAAGATGTGCAAGAAATCCTGTCGAGTAGAATCTCATCACAGGGGCGTGGGCAGCCCAGGAGTTGGCGGGTATGTAGAGAGAGGTGTCAAAAATAGTAATTGAGAGTGAGCTTTGGGAGGAAGATGTTGGAAATAAAGATGGTGGAAGAAAGAGGAGTGCTGAGGAAAGGTGCTCTGAAAGATCGTCCTGGTGGGAGACACATGGGGATCTAGAGTGGAAATGTTACGGGATCTCTGGGGTGTTGATTTTTCTGGCTGGAAACCTCTGCGGCCGCAGCACCTTTGCCTCAGTTCTTGTCCTGCATCCAGGAAGAATGAGGTACGCAGATTAGTGAAGGGTGAAGAACAGTTTTATTTAGTGTTAGAACAGCTCAGAGTAGTGGGTAGCTCCTCTCTGTAGGCAGGTCATCCGTCGAGTGTTCAGCTGTCAGCAGAGGAGGCCCTGGAGAGGGTGGCTCCTCTCTGCAGGCAAGTCACTTGGACATCTCTGCAGGTCTCTGAAGCTCTCAGCAGAGAGCATAGATCCTCTCTGCCCTCTCCGTCCTCTGGCTGTCCTCTCGCCTTCTCTGACTGAGCCCAGGGCTTTTATGGACCTCAAGAGGGAAGGAAGGATGTGCCAATTGGTCCATGGGTGGCCATGGGCGGGCCTGGAATAGGTACCATGAGTCCTCACTCTGGTCCACAGGACTGGCAGCCCAGCTGCCAGCCTTCAGGCCCTTCCTGGCCTTCCACTGTCCCCTTCCACTCAGGACTCTGTCTGCCTCCCGCTGCCATTCATGGCCCTGGGGCTTGGCTCCAATCCCACTCTGAGATCCGAGTGGGTGCTGGGAGCTGAGAGAGGCCAGGCAGTGGAAGCAGACACCCATGACCCTGCAGGGATGGTGTGGGGGTTGTCCTTCCTGGGGCGCCTGAGGGTGCAGGCTGCAGAGTGGGA
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Task1_train_16216
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The gene IGHMBP2 (immunoglobulin mu DNA binding protein 2), on Chromosome 11, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Autosomal recessive distal spinal muscular atrophy 1
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TGTTGTTGCCACTTGTTGTTTGTTTAGTGACTTTTCTGGACTAATTCTGTAAAATCTGTATTTTTTGTCTTGCGTGGCCACTAAAGTCTAATACAACTTAGTGGCCAGCTAGTGATTAGACAGAAATCCCCCTGAACTCCTGGAGCCATAAATGCCCCAGTCTTTGCTGAGTGGCTCTGTGTGTGTGCTTGGGCACACCTCCAACACAGAGCCAGGCTGTTTGTGACTCTCAGCTTTCACTTCCCGTTTGTGCAGTGCGTTGAGCTGAGCCACAGATGAGAGCTGAGGGCCTCCCGAGGTCTTTCCTGAGCCCTGTACATGTGTGTGGCCTTCTAGATTCCCAGGAATATGTTGGAGCTTTTCAAAGCCCCCTGAGGATATCTCATTCCCCAGCTTAAAACTTTGGTTATCCTATCATTTGCTCCGACCATTATTCTCTGTCTTAGAAAACTGTGATGTTCAACAATTACCTCTGATTGTTTTTGACAGACACCACCAGGGAAAAGGCTGTTTGTATTACATGAGCTCAGATAAAGTCTTTTGAGTGTGGTCTACCAGAGGATTCCCAGACAGATGAGATAAGCACAGTTTCTGGAGTGGGGCTTTTCAGGAATGCCAACCCTGTTCTGCACCCCCCGGGGCTGGCAGGTGCTGGTTTTCACCCTGACTTCAGGCTGAGGGTTTCAAGGCTGCCATAGGGATGGCTGGGAATAGGGCAGGTTTCAGTGCCACCGAGCTCCCGTGCTGACGGGGATTCAGATGCTTTTCTGGAATGAACACTTCCCTGATTGCTGCAGCCTTTGGCGAGTTTCCAGAGTTCTGAGAAAGTTGATTCTGACCATTTGCCGATGTCTTGTTGCTTTCGTGGAGGAGAGAATTCTCAGAGCTTGTGAGAGTCTCTTTGCTGACATCCTTCTCTGGCTTCAAGGACAGCACTTGCTGGAAATCAGGAGGCATCCCCTGAGCCCCACAAGGTCAGCTTGTGGCCTTTGTGGCCTTTCTGTTCCCTGCTGGTTGTTGGGGAACTAGAGTGAGTTCCTGGAAGTGCTTCTCCATCATGAAGTCTGGTTTCTCTCTGTACTGTGAAGTCACATCTGTGACCTAAACATGTCTCTTAATTATCCAAAGCCCAGCCAAGTTCTGTCTCCTCTGTGGGTGCTTTTTCTAGCCATCTCTGAAGAGTCAATCTTGAGAAATTTCTCAGTATGTCTTCATCATGGCATTATGTACATATCATTAGCATAATTCACTCAGATGGAAGGCAGAAAGGGTGGGAACTAACATTGATCACATTTATGGAAACCTGCCTTCTCGTGCTGGGCACTTTATATATGTTATCTCCCTTTGTGGTGCAATCTCATGACATGCAGTCATTGTCCATGTTTGTGGGTGAGGAAACAGGCTTAGGGGTGGGAGGCTCGCCTGAGGCCCCACACTGTTGGCTGGAGACAGCGTGGGGCCTGAGTCTTGCTCACAGCCTGAACGCTGCACTCTGCTGCTCCGCGTCCCAGGAAGGAAAAGCTGCTGCAGTGGGTTTGTGTTGCCAAATACATGGAGGCTTTTTTCTGGGTGAGTGCCCAGCAGTTGATTGTTCTGTATGTCCAAGAAAGTCACCTTAGAAAAGAATTAGGTTCTAAATTTAGAAAATAATTGAGTTACAATATTTAGAACTCAGACAGCATCCCTTGGGCTTGGGGTCACAGCCCCGAAGGGGTGATTAATTTTGCCAATTGAAGATCAGAGGGGCCTGTGGCCAGAGTACCCACTGCTTAAGACACAGGTGAGCTGGAACCATGAGTTTTAAAATGTCTTGGCCAAGTTTTTATTACAAGATACAAATTTATCCCACACAGTTGCAATGCAAGCCTTGATGAAACCCCAGCTTGATGGTGTCTCCTCTGGTGTGGCTGCGCTGTTGGGAAGCAGCTGTGCCCCTGGAGACTCCCGGCTCCCTGTTTCCACCAGGTGCGTCTGCCGATGGCCCCCTGAAGTTGCTGCCCGAGAGCTACTTCGACGTGGTGGTCATTGACGAGTGTGCCCAGGCCCTCGAGGCGAGCTGCTGGATCCCCCTGCTGAAGGCCAGAAAGTGCATCCTGGCGGGCGATCACAAGCAGCTGCCCCCCACCACAGTCTCTCACAAGTAAGACCCCTTTGCCTCACATGCCCTTCTCTGCCCCCGCCCTCCTGCGGTCCTTCCACGCTCAGCCAGGAGCCCCAGGCTCACCAGGAGCCCCTGCGGTGCCTCCTCGGTTTCTCGGCACAGCTCCTACCCCGTCTTACAGCATTCATTCATCTCAACGTCGCATCTGTGAGATCATGTACTCCCCGAGGGTGGGGTCGCATCACCTTCATCTTTGTAGCTTCAGAACTGGACACAGGGCCTGGCACGTTTCTGGTGTTCCGTCCCTGCTTGTTGAGTTGAATATCCCCTCATGAACCAGGCAGGTTTGATGGTAGAGTGCCGTGAGAGCCTTGGGCTGGGCTAACTGGCCTCTGGGTGGATGTGGGTTCTTTAGTCTTCAATCTGTAGACACATCCCTGGATGGAGGGCACTGGGCAGAGACTCAGCAAACCATGGTTCTGCCGTGCGGAGACACCGGAGCCCTGATGCAGTGGCCTGGCCCAGGCTGTCCTGGTGGAGACACTGGAGTCCTGATGCGGTGGCCTGGCCCAGGCTGTCCTGGTGGAGACACTGGAGCCCTGATGCAGTGGCCTGGCCCAGGCTGTCTTGGTGGAGAAAGTGCTGCCCGCCCCCCCAGCCCCCCTCTCACCTCTCCCCATACTACCCAGCACTCACTGCTTCAGCCACACAGGCCTCGCTGGCCCCTCTGCCTGGACCACTCCTGCCTGGGTGTGGCGGGCGTGCCCTCTCTCCAGATGAACCCTCTGCATGGTATCCCTTGACTGCCCTTACACGAGGCCTGTGAACAGGGCCTGGCACGTGGGCTGTCCTTGGACAAGTCCCTGTTCAGAAAGTTGTCCCTGAGGAATGAAACACTTCTGAGACTCCTGCATCCTGGCCCTCACTTCCACCGGGGGAAGATTGATTTCTTCAGATTTCGGTTGCCTTTTGAAACACTTCTCTGTTTCACTGTGGGTGTGTAGAAGCTATGAACTCGGAACTTTCGTTGTTTTCCGAGGACCGGAAGAAGATGTGCAAGAAATCCTGTCGAGTAGAATCTCATCACAGGGGCGTGGGCAGCCCAGGAGTTGGCGGGTATGTAGAGAGAGGTGTCAAAAATAGTAATTGAGAGTGAGCTTTGGGAGGAAGATGTTGGAAATAAAGATGGTGGAAGAAAGAGGAGTGCTGAGGAAAGGTGCTCTGAAAGATCGTCCTGGTGGGAGACACATGGGGATCTAGAGTGGAAATGTTACGGGATCTCTGGGGTGTTGATTTTTCTGGCTGGAAACCTCTGCGGCCGCAGCACCTTTGCCTCAGTTCTTGTCCTGCATCCAGGAAGAATGAGGTACGCAGATTAGTGAAGGGTGAAGAACAGTTTTATTTAGTGTTAGAACAGCTCAGAGTAGTGGGTAGCTCCTCTCTGTAGGCAGGTCATCCGTCGAGTGTTCAGCTGTCAGCAGAGGAGGCCCTGGAGAGGGTGGCTCCTCTCTGCAGGCAAGTCACTTGGACATCTCTGCAGGTCTCTGAAGCTCTCAGCAGAGAGCATAGATCCTCTCTGCCCTCTCCGTCCTCTGGCTGTCCTCTCGCCTTCTCTGACTGAGCCCAGGGCTTTTATGGACCTCAAGAGGGAAGGAAGGATGTGCCAATTGGTCCATGGGTGGCCATGGGCGGGCCTGGAATAGGTACCATGAGTCCTCACTCTGGTCCACAGGACTGGCAGCCCAGCTGCCAGCCTTCAGGCCCTTCCTGGCCTTCCACTGTCCCCTTCCACTCAGGACTCTGTCTGCCTCCCGCTGCCATTCATGGCCCTGGGGCTTGGCTCCAATCCCACTCTGAGATCCGAGTGGGTGCTGGGAGCTGAGAGAGGCCAGGCAGTGGAAGCAGACACCCATGACCCTGCAGGGATGGTGTGGGGGTTGTCCTTCCTGGGGCGCCTGAGGGTGCAGGCTGCAGAGTGGGAGGGCAGCTACAGCT
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TGTTGTTGCCACTTGTTGTTTGTTTAGTGACTTTTCTGGACTAATTCTGTAAAATCTGTATTTTTTGTCTTGCGTGGCCACTAAAGTCTAATACAACTTAGTGGCCAGCTAGTGATTAGACAGAAATCCCCCTGAACTCCTGGAGCCATAAATGCCCCAGTCTTTGCTGAGTGGCTCTGTGTGTGTGCTTGGGCACACCTCCAACACAGAGCCAGGCTGTTTGTGACTCTCAGCTTTCACTTCCCGTTTGTGCAGTGCGTTGAGCTGAGCCACAGATGAGAGCTGAGGGCCTCCCGAGGTCTTTCCTGAGCCCTGTACATGTGTGTGGCCTTCTAGATTCCCAGGAATATGTTGGAGCTTTTCAAAGCCCCCTGAGGATATCTCATTCCCCAGCTTAAAACTTTGGTTATCCTATCATTTGCTCCGACCATTATTCTCTGTCTTAGAAAACTGTGATGTTCAACAATTACCTCTGATTGTTTTTGACAGACACCACCAGGGAAAAGGCTGTTTGTATTACATGAGCTCAGATAAAGTCTTTTGAGTGTGGTCTACCAGAGGATTCCCAGACAGATGAGATAAGCACAGTTTCTGGAGTGGGGCTTTTCAGGAATGCCAACCCTGTTCTGCACCCCCCGGGGCTGGCAGGTGCTGGTTTTCACCCTGACTTCAGGCTGAGGGTTTCAAGGCTGCCATAGGGATGGCTGGGAATAGGGCAGGTTTCAGTGCCACCGAGCTCCCGTGCTGACGGGGATTCAGATGCTTTTCTGGAATGAACACTTCCCTGATTGCTGCAGCCTTTGGCGAGTTTCCAGAGTTCTGAGAAAGTTGATTCTGACCATTTGCCGATGTCTTGTTGCTTTCGTGGAGGAGAGAATTCTCAGAGCTTGTGAGAGTCTCTTTGCTGACATCCTTCTCTGGCTTCAAGGACAGCACTTGCTGGAAATCAGGAGGCATCCCCTGAGCCCCACAAGGTCAGCTTGTGGCCTTTGTGGCCTTTCTGTTCCCTGCTGGTTGTTGGGGAACTAGAGTGAGTTCCTGGAAGTGCTTCTCCATCATGAAGTCTGGTTTCTCTCTGTACTGTGAAGTCACATCTGTGACCTAAACATGTCTCTTAATTATCCAAAGCCCAGCCAAGTTCTGTCTCCTCTGTGGGTGCTTTTTCTAGCCATCTCTGAAGAGTCAATCTTGAGAAATTTCTCAGTATGTCTTCATCATGGCATTATGTACATATCATTAGCATAATTCACTCAGATGGAAGGCAGAAAGGGTGGGAACTAACATTGATCACATTTATGGAAACCTGCCTTCTCGTGCTGGGCACTTTATATATGTTATCTCCCTTTGTGGTGCAATCTCATGACATGCAGTCATTGTCCATGTTTGTGGGTGAGGAAACAGGCTTAGGGGTGGGAGGCTCGCCTGAGGCCCCACACTGTTGGCTGGAGACAGCGTGGGGCCTGAGTCTTGCTCACAGCCTGAACGCTGCACTCTGCTGCTCCGCGTCCCAGGAAGGAAAAGCTGCTGCAGTGGGTTTGTGTTGCCAAATACATGGAGGCTTTTTTCTGGGTGAGTGCCCAGCAGTTGATTGTTCTGTATGTCCAAGAAAGTCACCTTAGAAAAGAATTAGGTTCTAAATTTAGAAAATAATTGAGTTACAATATTTAGAACTCAGACAGCATCCCTTGGGCTTGGGGTCACAGCCCCGAAGGGGTGATTAATTTTGCCAATTGAAGATCAGAGGGGCCTGTGGCCAGAGTACCCACTGCTTAAGACACAGGTGAGCTGGAACCATGAGTTTTAAAATGTCTTGGCCAAGTTTTTATTACAAGATACAAATTTATCCCACACAGTTGCAATGCAAGCCTTGATGAAACCCCAGCTTGATGGTGTCTCCTCTGGTGTGGCTGCGCTGTTGGGAAGCAGCTGTGCCCCTGGAGACTCCCGGCTCCCTGTTTCCACCAGGTGCGTCTGCCGATGGCCCCCTGAAGTTGCTGCCCGAGAGCTACTTCGACGTGGTGGTCATTGACGAGTGTGCCCAGGCCCTCAAGGCGAGCTGCTGGATCCCCCTGCTGAAGGCCAGAAAGTGCATCCTGGCGGGCGATCACAAGCAGCTGCCCCCCACCACAGTCTCTCACAAGTAAGACCCCTTTGCCTCACATGCCCTTCTCTGCCCCCGCCCTCCTGCGGTCCTTCCACGCTCAGCCAGGAGCCCCAGGCTCACCAGGAGCCCCTGCGGTGCCTCCTCGGTTTCTCGGCACAGCTCCTACCCCGTCTTACAGCATTCATTCATCTCAACGTCGCATCTGTGAGATCATGTACTCCCCGAGGGTGGGGTCGCATCACCTTCATCTTTGTAGCTTCAGAACTGGACACAGGGCCTGGCACGTTTCTGGTGTTCCGTCCCTGCTTGTTGAGTTGAATATCCCCTCATGAACCAGGCAGGTTTGATGGTAGAGTGCCGTGAGAGCCTTGGGCTGGGCTAACTGGCCTCTGGGTGGATGTGGGTTCTTTAGTCTTCAATCTGTAGACACATCCCTGGATGGAGGGCACTGGGCAGAGACTCAGCAAACCATGGTTCTGCCGTGCGGAGACACCGGAGCCCTGATGCAGTGGCCTGGCCCAGGCTGTCCTGGTGGAGACACTGGAGTCCTGATGCGGTGGCCTGGCCCAGGCTGTCCTGGTGGAGACACTGGAGCCCTGATGCAGTGGCCTGGCCCAGGCTGTCTTGGTGGAGAAAGTGCTGCCCGCCCCCCCAGCCCCCCTCTCACCTCTCCCCATACTACCCAGCACTCACTGCTTCAGCCACACAGGCCTCGCTGGCCCCTCTGCCTGGACCACTCCTGCCTGGGTGTGGCGGGCGTGCCCTCTCTCCAGATGAACCCTCTGCATGGTATCCCTTGACTGCCCTTACACGAGGCCTGTGAACAGGGCCTGGCACGTGGGCTGTCCTTGGACAAGTCCCTGTTCAGAAAGTTGTCCCTGAGGAATGAAACACTTCTGAGACTCCTGCATCCTGGCCCTCACTTCCACCGGGGGAAGATTGATTTCTTCAGATTTCGGTTGCCTTTTGAAACACTTCTCTGTTTCACTGTGGGTGTGTAGAAGCTATGAACTCGGAACTTTCGTTGTTTTCCGAGGACCGGAAGAAGATGTGCAAGAAATCCTGTCGAGTAGAATCTCATCACAGGGGCGTGGGCAGCCCAGGAGTTGGCGGGTATGTAGAGAGAGGTGTCAAAAATAGTAATTGAGAGTGAGCTTTGGGAGGAAGATGTTGGAAATAAAGATGGTGGAAGAAAGAGGAGTGCTGAGGAAAGGTGCTCTGAAAGATCGTCCTGGTGGGAGACACATGGGGATCTAGAGTGGAAATGTTACGGGATCTCTGGGGTGTTGATTTTTCTGGCTGGAAACCTCTGCGGCCGCAGCACCTTTGCCTCAGTTCTTGTCCTGCATCCAGGAAGAATGAGGTACGCAGATTAGTGAAGGGTGAAGAACAGTTTTATTTAGTGTTAGAACAGCTCAGAGTAGTGGGTAGCTCCTCTCTGTAGGCAGGTCATCCGTCGAGTGTTCAGCTGTCAGCAGAGGAGGCCCTGGAGAGGGTGGCTCCTCTCTGCAGGCAAGTCACTTGGACATCTCTGCAGGTCTCTGAAGCTCTCAGCAGAGAGCATAGATCCTCTCTGCCCTCTCCGTCCTCTGGCTGTCCTCTCGCCTTCTCTGACTGAGCCCAGGGCTTTTATGGACCTCAAGAGGGAAGGAAGGATGTGCCAATTGGTCCATGGGTGGCCATGGGCGGGCCTGGAATAGGTACCATGAGTCCTCACTCTGGTCCACAGGACTGGCAGCCCAGCTGCCAGCCTTCAGGCCCTTCCTGGCCTTCCACTGTCCCCTTCCACTCAGGACTCTGTCTGCCTCCCGCTGCCATTCATGGCCCTGGGGCTTGGCTCCAATCCCACTCTGAGATCCGAGTGGGTGCTGGGAGCTGAGAGAGGCCAGGCAGTGGAAGCAGACACCCATGACCCTGCAGGGATGGTGTGGGGGTTGTCCTTCCTGGGGCGCCTGAGGGTGCAGGCTGCAGAGTGGGAGGGCAGCTACAGCT
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Task1_train_16217
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Here is a variant affecting IGHMBP2 (immunoglobulin mu DNA binding protein 2) on Chromosome 11. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Charcot-Marie-Tooth disease axonal type 2S
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TGTTGTTGCCACTTGTTGTTTGTTTAGTGACTTTTCTGGACTAATTCTGTAAAATCTGTATTTTTTGTCTTGCGTGGCCACTAAAGTCTAATACAACTTAGTGGCCAGCTAGTGATTAGACAGAAATCCCCCTGAACTCCTGGAGCCATAAATGCCCCAGTCTTTGCTGAGTGGCTCTGTGTGTGTGCTTGGGCACACCTCCAACACAGAGCCAGGCTGTTTGTGACTCTCAGCTTTCACTTCCCGTTTGTGCAGTGCGTTGAGCTGAGCCACAGATGAGAGCTGAGGGCCTCCCGAGGTCTTTCCTGAGCCCTGTACATGTGTGTGGCCTTCTAGATTCCCAGGAATATGTTGGAGCTTTTCAAAGCCCCCTGAGGATATCTCATTCCCCAGCTTAAAACTTTGGTTATCCTATCATTTGCTCCGACCATTATTCTCTGTCTTAGAAAACTGTGATGTTCAACAATTACCTCTGATTGTTTTTGACAGACACCACCAGGGAAAAGGCTGTTTGTATTACATGAGCTCAGATAAAGTCTTTTGAGTGTGGTCTACCAGAGGATTCCCAGACAGATGAGATAAGCACAGTTTCTGGAGTGGGGCTTTTCAGGAATGCCAACCCTGTTCTGCACCCCCCGGGGCTGGCAGGTGCTGGTTTTCACCCTGACTTCAGGCTGAGGGTTTCAAGGCTGCCATAGGGATGGCTGGGAATAGGGCAGGTTTCAGTGCCACCGAGCTCCCGTGCTGACGGGGATTCAGATGCTTTTCTGGAATGAACACTTCCCTGATTGCTGCAGCCTTTGGCGAGTTTCCAGAGTTCTGAGAAAGTTGATTCTGACCATTTGCCGATGTCTTGTTGCTTTCGTGGAGGAGAGAATTCTCAGAGCTTGTGAGAGTCTCTTTGCTGACATCCTTCTCTGGCTTCAAGGACAGCACTTGCTGGAAATCAGGAGGCATCCCCTGAGCCCCACAAGGTCAGCTTGTGGCCTTTGTGGCCTTTCTGTTCCCTGCTGGTTGTTGGGGAACTAGAGTGAGTTCCTGGAAGTGCTTCTCCATCATGAAGTCTGGTTTCTCTCTGTACTGTGAAGTCACATCTGTGACCTAAACATGTCTCTTAATTATCCAAAGCCCAGCCAAGTTCTGTCTCCTCTGTGGGTGCTTTTTCTAGCCATCTCTGAAGAGTCAATCTTGAGAAATTTCTCAGTATGTCTTCATCATGGCATTATGTACATATCATTAGCATAATTCACTCAGATGGAAGGCAGAAAGGGTGGGAACTAACATTGATCACATTTATGGAAACCTGCCTTCTCGTGCTGGGCACTTTATATATGTTATCTCCCTTTGTGGTGCAATCTCATGACATGCAGTCATTGTCCATGTTTGTGGGTGAGGAAACAGGCTTAGGGGTGGGAGGCTCGCCTGAGGCCCCACACTGTTGGCTGGAGACAGCGTGGGGCCTGAGTCTTGCTCACAGCCTGAACGCTGCACTCTGCTGCTCCGCGTCCCAGGAAGGAAAAGCTGCTGCAGTGGGTTTGTGTTGCCAAATACATGGAGGCTTTTTTCTGGGTGAGTGCCCAGCAGTTGATTGTTCTGTATGTCCAAGAAAGTCACCTTAGAAAAGAATTAGGTTCTAAATTTAGAAAATAATTGAGTTACAATATTTAGAACTCAGACAGCATCCCTTGGGCTTGGGGTCACAGCCCCGAAGGGGTGATTAATTTTGCCAATTGAAGATCAGAGGGGCCTGTGGCCAGAGTACCCACTGCTTAAGACACAGGTGAGCTGGAACCATGAGTTTTAAAATGTCTTGGCCAAGTTTTTATTACAAGATACAAATTTATCCCACACAGTTGCAATGCAAGCCTTGATGAAACCCCAGCTTGATGGTGTCTCCTCTGGTGTGGCTGCGCTGTTGGGAAGCAGCTGTGCCCCTGGAGACTCCCGGCTCCCTGTTTCCACCAGGTGCGTCTGCCGATGGCCCCCTGAAGTTGCTGCCCGAGAGCTACTTCGACGTGGTGGTCATTGACGAGTGTGCCCAGGCCCTCGAGGCGAGCTGCTGGATCCCCCTGCTGAAGGCCAGAAAGTGCATCCTGGCGGGCGATCACAAGCAGCTGCCCCCCACCACAGTCTCTCACAAGTAAGACCCCTTTGCCTCACATGCCCTTCTCTGCCCCCGCCCTCCTGCGGTCCTTCCACGCTCAGCCAGGAGCCCCAGGCTCACCAGGAGCCCCTGCGGTGCCTCCTCGGTTTCTCGGCACAGCTCCTACCCCGTCTTACAGCATTCATTCATCTCAACGTCGCATCTGTGAGATCATGTACTCCCCGAGGGTGGGGTCGCATCACCTTCATCTTTGTAGCTTCAGAACTGGACACAGGGCCTGGCACGTTTCTGGTGTTCCGTCCCTGCTTGTTGAGTTGAATATCCCCTCATGAACCAGGCAGGTTTGATGGTAGAGTGCCGTGAGAGCCTTGGGCTGGGCTAACTGGCCTCTGGGTGGATGTGGGTTCTTTAGTCTTCAATCTGTAGACACATCCCTGGATGGAGGGCACTGGGCAGAGACTCAGCAAACCATGGTTCTGCCGTGCGGAGACACCGGAGCCCTGATGCAGTGGCCTGGCCCAGGCTGTCCTGGTGGAGACACTGGAGTCCTGATGCGGTGGCCTGGCCCAGGCTGTCCTGGTGGAGACACTGGAGCCCTGATGCAGTGGCCTGGCCCAGGCTGTCTTGGTGGAGAAAGTGCTGCCCGCCCCCCCAGCCCCCCTCTCACCTCTCCCCATACTACCCAGCACTCACTGCTTCAGCCACACAGGCCTCGCTGGCCCCTCTGCCTGGACCACTCCTGCCTGGGTGTGGCGGGCGTGCCCTCTCTCCAGATGAACCCTCTGCATGGTATCCCTTGACTGCCCTTACACGAGGCCTGTGAACAGGGCCTGGCACGTGGGCTGTCCTTGGACAAGTCCCTGTTCAGAAAGTTGTCCCTGAGGAATGAAACACTTCTGAGACTCCTGCATCCTGGCCCTCACTTCCACCGGGGGAAGATTGATTTCTTCAGATTTCGGTTGCCTTTTGAAACACTTCTCTGTTTCACTGTGGGTGTGTAGAAGCTATGAACTCGGAACTTTCGTTGTTTTCCGAGGACCGGAAGAAGATGTGCAAGAAATCCTGTCGAGTAGAATCTCATCACAGGGGCGTGGGCAGCCCAGGAGTTGGCGGGTATGTAGAGAGAGGTGTCAAAAATAGTAATTGAGAGTGAGCTTTGGGAGGAAGATGTTGGAAATAAAGATGGTGGAAGAAAGAGGAGTGCTGAGGAAAGGTGCTCTGAAAGATCGTCCTGGTGGGAGACACATGGGGATCTAGAGTGGAAATGTTACGGGATCTCTGGGGTGTTGATTTTTCTGGCTGGAAACCTCTGCGGCCGCAGCACCTTTGCCTCAGTTCTTGTCCTGCATCCAGGAAGAATGAGGTACGCAGATTAGTGAAGGGTGAAGAACAGTTTTATTTAGTGTTAGAACAGCTCAGAGTAGTGGGTAGCTCCTCTCTGTAGGCAGGTCATCCGTCGAGTGTTCAGCTGTCAGCAGAGGAGGCCCTGGAGAGGGTGGCTCCTCTCTGCAGGCAAGTCACTTGGACATCTCTGCAGGTCTCTGAAGCTCTCAGCAGAGAGCATAGATCCTCTCTGCCCTCTCCGTCCTCTGGCTGTCCTCTCGCCTTCTCTGACTGAGCCCAGGGCTTTTATGGACCTCAAGAGGGAAGGAAGGATGTGCCAATTGGTCCATGGGTGGCCATGGGCGGGCCTGGAATAGGTACCATGAGTCCTCACTCTGGTCCACAGGACTGGCAGCCCAGCTGCCAGCCTTCAGGCCCTTCCTGGCCTTCCACTGTCCCCTTCCACTCAGGACTCTGTCTGCCTCCCGCTGCCATTCATGGCCCTGGGGCTTGGCTCCAATCCCACTCTGAGATCCGAGTGGGTGCTGGGAGCTGAGAGAGGCCAGGCAGTGGAAGCAGACACCCATGACCCTGCAGGGATGGTGTGGGGGTTGTCCTTCCTGGGGCGCCTGAGGGTGCAGGCTGCAGAGTGGGAGGGCAGCTACAGCT
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TGTTGTTGCCACTTGTTGTTTGTTTAGTGACTTTTCTGGACTAATTCTGTAAAATCTGTATTTTTTGTCTTGCGTGGCCACTAAAGTCTAATACAACTTAGTGGCCAGCTAGTGATTAGACAGAAATCCCCCTGAACTCCTGGAGCCATAAATGCCCCAGTCTTTGCTGAGTGGCTCTGTGTGTGTGCTTGGGCACACCTCCAACACAGAGCCAGGCTGTTTGTGACTCTCAGCTTTCACTTCCCGTTTGTGCAGTGCGTTGAGCTGAGCCACAGATGAGAGCTGAGGGCCTCCCGAGGTCTTTCCTGAGCCCTGTACATGTGTGTGGCCTTCTAGATTCCCAGGAATATGTTGGAGCTTTTCAAAGCCCCCTGAGGATATCTCATTCCCCAGCTTAAAACTTTGGTTATCCTATCATTTGCTCCGACCATTATTCTCTGTCTTAGAAAACTGTGATGTTCAACAATTACCTCTGATTGTTTTTGACAGACACCACCAGGGAAAAGGCTGTTTGTATTACATGAGCTCAGATAAAGTCTTTTGAGTGTGGTCTACCAGAGGATTCCCAGACAGATGAGATAAGCACAGTTTCTGGAGTGGGGCTTTTCAGGAATGCCAACCCTGTTCTGCACCCCCCGGGGCTGGCAGGTGCTGGTTTTCACCCTGACTTCAGGCTGAGGGTTTCAAGGCTGCCATAGGGATGGCTGGGAATAGGGCAGGTTTCAGTGCCACCGAGCTCCCGTGCTGACGGGGATTCAGATGCTTTTCTGGAATGAACACTTCCCTGATTGCTGCAGCCTTTGGCGAGTTTCCAGAGTTCTGAGAAAGTTGATTCTGACCATTTGCCGATGTCTTGTTGCTTTCGTGGAGGAGAGAATTCTCAGAGCTTGTGAGAGTCTCTTTGCTGACATCCTTCTCTGGCTTCAAGGACAGCACTTGCTGGAAATCAGGAGGCATCCCCTGAGCCCCACAAGGTCAGCTTGTGGCCTTTGTGGCCTTTCTGTTCCCTGCTGGTTGTTGGGGAACTAGAGTGAGTTCCTGGAAGTGCTTCTCCATCATGAAGTCTGGTTTCTCTCTGTACTGTGAAGTCACATCTGTGACCTAAACATGTCTCTTAATTATCCAAAGCCCAGCCAAGTTCTGTCTCCTCTGTGGGTGCTTTTTCTAGCCATCTCTGAAGAGTCAATCTTGAGAAATTTCTCAGTATGTCTTCATCATGGCATTATGTACATATCATTAGCATAATTCACTCAGATGGAAGGCAGAAAGGGTGGGAACTAACATTGATCACATTTATGGAAACCTGCCTTCTCGTGCTGGGCACTTTATATATGTTATCTCCCTTTGTGGTGCAATCTCATGACATGCAGTCATTGTCCATGTTTGTGGGTGAGGAAACAGGCTTAGGGGTGGGAGGCTCGCCTGAGGCCCCACACTGTTGGCTGGAGACAGCGTGGGGCCTGAGTCTTGCTCACAGCCTGAACGCTGCACTCTGCTGCTCCGCGTCCCAGGAAGGAAAAGCTGCTGCAGTGGGTTTGTGTTGCCAAATACATGGAGGCTTTTTTCTGGGTGAGTGCCCAGCAGTTGATTGTTCTGTATGTCCAAGAAAGTCACCTTAGAAAAGAATTAGGTTCTAAATTTAGAAAATAATTGAGTTACAATATTTAGAACTCAGACAGCATCCCTTGGGCTTGGGGTCACAGCCCCGAAGGGGTGATTAATTTTGCCAATTGAAGATCAGAGGGGCCTGTGGCCAGAGTACCCACTGCTTAAGACACAGGTGAGCTGGAACCATGAGTTTTAAAATGTCTTGGCCAAGTTTTTATTACAAGATACAAATTTATCCCACACAGTTGCAATGCAAGCCTTGATGAAACCCCAGCTTGATGGTGTCTCCTCTGGTGTGGCTGCGCTGTTGGGAAGCAGCTGTGCCCCTGGAGACTCCCGGCTCCCTGTTTCCACCAGGTGCGTCTGCCGATGGCCCCCTGAAGTTGCTGCCCGAGAGCTACTTCGACGTGGTGGTCATTGACGAGTGTGCCCAGGCCCTCAAGGCGAGCTGCTGGATCCCCCTGCTGAAGGCCAGAAAGTGCATCCTGGCGGGCGATCACAAGCAGCTGCCCCCCACCACAGTCTCTCACAAGTAAGACCCCTTTGCCTCACATGCCCTTCTCTGCCCCCGCCCTCCTGCGGTCCTTCCACGCTCAGCCAGGAGCCCCAGGCTCACCAGGAGCCCCTGCGGTGCCTCCTCGGTTTCTCGGCACAGCTCCTACCCCGTCTTACAGCATTCATTCATCTCAACGTCGCATCTGTGAGATCATGTACTCCCCGAGGGTGGGGTCGCATCACCTTCATCTTTGTAGCTTCAGAACTGGACACAGGGCCTGGCACGTTTCTGGTGTTCCGTCCCTGCTTGTTGAGTTGAATATCCCCTCATGAACCAGGCAGGTTTGATGGTAGAGTGCCGTGAGAGCCTTGGGCTGGGCTAACTGGCCTCTGGGTGGATGTGGGTTCTTTAGTCTTCAATCTGTAGACACATCCCTGGATGGAGGGCACTGGGCAGAGACTCAGCAAACCATGGTTCTGCCGTGCGGAGACACCGGAGCCCTGATGCAGTGGCCTGGCCCAGGCTGTCCTGGTGGAGACACTGGAGTCCTGATGCGGTGGCCTGGCCCAGGCTGTCCTGGTGGAGACACTGGAGCCCTGATGCAGTGGCCTGGCCCAGGCTGTCTTGGTGGAGAAAGTGCTGCCCGCCCCCCCAGCCCCCCTCTCACCTCTCCCCATACTACCCAGCACTCACTGCTTCAGCCACACAGGCCTCGCTGGCCCCTCTGCCTGGACCACTCCTGCCTGGGTGTGGCGGGCGTGCCCTCTCTCCAGATGAACCCTCTGCATGGTATCCCTTGACTGCCCTTACACGAGGCCTGTGAACAGGGCCTGGCACGTGGGCTGTCCTTGGACAAGTCCCTGTTCAGAAAGTTGTCCCTGAGGAATGAAACACTTCTGAGACTCCTGCATCCTGGCCCTCACTTCCACCGGGGGAAGATTGATTTCTTCAGATTTCGGTTGCCTTTTGAAACACTTCTCTGTTTCACTGTGGGTGTGTAGAAGCTATGAACTCGGAACTTTCGTTGTTTTCCGAGGACCGGAAGAAGATGTGCAAGAAATCCTGTCGAGTAGAATCTCATCACAGGGGCGTGGGCAGCCCAGGAGTTGGCGGGTATGTAGAGAGAGGTGTCAAAAATAGTAATTGAGAGTGAGCTTTGGGAGGAAGATGTTGGAAATAAAGATGGTGGAAGAAAGAGGAGTGCTGAGGAAAGGTGCTCTGAAAGATCGTCCTGGTGGGAGACACATGGGGATCTAGAGTGGAAATGTTACGGGATCTCTGGGGTGTTGATTTTTCTGGCTGGAAACCTCTGCGGCCGCAGCACCTTTGCCTCAGTTCTTGTCCTGCATCCAGGAAGAATGAGGTACGCAGATTAGTGAAGGGTGAAGAACAGTTTTATTTAGTGTTAGAACAGCTCAGAGTAGTGGGTAGCTCCTCTCTGTAGGCAGGTCATCCGTCGAGTGTTCAGCTGTCAGCAGAGGAGGCCCTGGAGAGGGTGGCTCCTCTCTGCAGGCAAGTCACTTGGACATCTCTGCAGGTCTCTGAAGCTCTCAGCAGAGAGCATAGATCCTCTCTGCCCTCTCCGTCCTCTGGCTGTCCTCTCGCCTTCTCTGACTGAGCCCAGGGCTTTTATGGACCTCAAGAGGGAAGGAAGGATGTGCCAATTGGTCCATGGGTGGCCATGGGCGGGCCTGGAATAGGTACCATGAGTCCTCACTCTGGTCCACAGGACTGGCAGCCCAGCTGCCAGCCTTCAGGCCCTTCCTGGCCTTCCACTGTCCCCTTCCACTCAGGACTCTGTCTGCCTCCCGCTGCCATTCATGGCCCTGGGGCTTGGCTCCAATCCCACTCTGAGATCCGAGTGGGTGCTGGGAGCTGAGAGAGGCCAGGCAGTGGAAGCAGACACCCATGACCCTGCAGGGATGGTGTGGGGGTTGTCCTTCCTGGGGCGCCTGAGGGTGCAGGCTGCAGAGTGGGAGGGCAGCTACAGCT
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Task1_train_16218
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Here is a mutation in IGHMBP2 (immunoglobulin mu DNA binding protein 2) on Chromosome 11. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Inborn genetic diseases
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TGTTGTTGCCACTTGTTGTTTGTTTAGTGACTTTTCTGGACTAATTCTGTAAAATCTGTATTTTTTGTCTTGCGTGGCCACTAAAGTCTAATACAACTTAGTGGCCAGCTAGTGATTAGACAGAAATCCCCCTGAACTCCTGGAGCCATAAATGCCCCAGTCTTTGCTGAGTGGCTCTGTGTGTGTGCTTGGGCACACCTCCAACACAGAGCCAGGCTGTTTGTGACTCTCAGCTTTCACTTCCCGTTTGTGCAGTGCGTTGAGCTGAGCCACAGATGAGAGCTGAGGGCCTCCCGAGGTCTTTCCTGAGCCCTGTACATGTGTGTGGCCTTCTAGATTCCCAGGAATATGTTGGAGCTTTTCAAAGCCCCCTGAGGATATCTCATTCCCCAGCTTAAAACTTTGGTTATCCTATCATTTGCTCCGACCATTATTCTCTGTCTTAGAAAACTGTGATGTTCAACAATTACCTCTGATTGTTTTTGACAGACACCACCAGGGAAAAGGCTGTTTGTATTACATGAGCTCAGATAAAGTCTTTTGAGTGTGGTCTACCAGAGGATTCCCAGACAGATGAGATAAGCACAGTTTCTGGAGTGGGGCTTTTCAGGAATGCCAACCCTGTTCTGCACCCCCCGGGGCTGGCAGGTGCTGGTTTTCACCCTGACTTCAGGCTGAGGGTTTCAAGGCTGCCATAGGGATGGCTGGGAATAGGGCAGGTTTCAGTGCCACCGAGCTCCCGTGCTGACGGGGATTCAGATGCTTTTCTGGAATGAACACTTCCCTGATTGCTGCAGCCTTTGGCGAGTTTCCAGAGTTCTGAGAAAGTTGATTCTGACCATTTGCCGATGTCTTGTTGCTTTCGTGGAGGAGAGAATTCTCAGAGCTTGTGAGAGTCTCTTTGCTGACATCCTTCTCTGGCTTCAAGGACAGCACTTGCTGGAAATCAGGAGGCATCCCCTGAGCCCCACAAGGTCAGCTTGTGGCCTTTGTGGCCTTTCTGTTCCCTGCTGGTTGTTGGGGAACTAGAGTGAGTTCCTGGAAGTGCTTCTCCATCATGAAGTCTGGTTTCTCTCTGTACTGTGAAGTCACATCTGTGACCTAAACATGTCTCTTAATTATCCAAAGCCCAGCCAAGTTCTGTCTCCTCTGTGGGTGCTTTTTCTAGCCATCTCTGAAGAGTCAATCTTGAGAAATTTCTCAGTATGTCTTCATCATGGCATTATGTACATATCATTAGCATAATTCACTCAGATGGAAGGCAGAAAGGGTGGGAACTAACATTGATCACATTTATGGAAACCTGCCTTCTCGTGCTGGGCACTTTATATATGTTATCTCCCTTTGTGGTGCAATCTCATGACATGCAGTCATTGTCCATGTTTGTGGGTGAGGAAACAGGCTTAGGGGTGGGAGGCTCGCCTGAGGCCCCACACTGTTGGCTGGAGACAGCGTGGGGCCTGAGTCTTGCTCACAGCCTGAACGCTGCACTCTGCTGCTCCGCGTCCCAGGAAGGAAAAGCTGCTGCAGTGGGTTTGTGTTGCCAAATACATGGAGGCTTTTTTCTGGGTGAGTGCCCAGCAGTTGATTGTTCTGTATGTCCAAGAAAGTCACCTTAGAAAAGAATTAGGTTCTAAATTTAGAAAATAATTGAGTTACAATATTTAGAACTCAGACAGCATCCCTTGGGCTTGGGGTCACAGCCCCGAAGGGGTGATTAATTTTGCCAATTGAAGATCAGAGGGGCCTGTGGCCAGAGTACCCACTGCTTAAGACACAGGTGAGCTGGAACCATGAGTTTTAAAATGTCTTGGCCAAGTTTTTATTACAAGATACAAATTTATCCCACACAGTTGCAATGCAAGCCTTGATGAAACCCCAGCTTGATGGTGTCTCCTCTGGTGTGGCTGCGCTGTTGGGAAGCAGCTGTGCCCCTGGAGACTCCCGGCTCCCTGTTTCCACCAGGTGCGTCTGCCGATGGCCCCCTGAAGTTGCTGCCCGAGAGCTACTTCGACGTGGTGGTCATTGACGAGTGTGCCCAGGCCCTCGAGGCGAGCTGCTGGATCCCCCTGCTGAAGGCCAGAAAGTGCATCCTGGCGGGCGATCACAAGCAGCTGCCCCCCACCACAGTCTCTCACAAGTAAGACCCCTTTGCCTCACATGCCCTTCTCTGCCCCCGCCCTCCTGCGGTCCTTCCACGCTCAGCCAGGAGCCCCAGGCTCACCAGGAGCCCCTGCGGTGCCTCCTCGGTTTCTCGGCACAGCTCCTACCCCGTCTTACAGCATTCATTCATCTCAACGTCGCATCTGTGAGATCATGTACTCCCCGAGGGTGGGGTCGCATCACCTTCATCTTTGTAGCTTCAGAACTGGACACAGGGCCTGGCACGTTTCTGGTGTTCCGTCCCTGCTTGTTGAGTTGAATATCCCCTCATGAACCAGGCAGGTTTGATGGTAGAGTGCCGTGAGAGCCTTGGGCTGGGCTAACTGGCCTCTGGGTGGATGTGGGTTCTTTAGTCTTCAATCTGTAGACACATCCCTGGATGGAGGGCACTGGGCAGAGACTCAGCAAACCATGGTTCTGCCGTGCGGAGACACCGGAGCCCTGATGCAGTGGCCTGGCCCAGGCTGTCCTGGTGGAGACACTGGAGTCCTGATGCGGTGGCCTGGCCCAGGCTGTCCTGGTGGAGACACTGGAGCCCTGATGCAGTGGCCTGGCCCAGGCTGTCTTGGTGGAGAAAGTGCTGCCCGCCCCCCCAGCCCCCCTCTCACCTCTCCCCATACTACCCAGCACTCACTGCTTCAGCCACACAGGCCTCGCTGGCCCCTCTGCCTGGACCACTCCTGCCTGGGTGTGGCGGGCGTGCCCTCTCTCCAGATGAACCCTCTGCATGGTATCCCTTGACTGCCCTTACACGAGGCCTGTGAACAGGGCCTGGCACGTGGGCTGTCCTTGGACAAGTCCCTGTTCAGAAAGTTGTCCCTGAGGAATGAAACACTTCTGAGACTCCTGCATCCTGGCCCTCACTTCCACCGGGGGAAGATTGATTTCTTCAGATTTCGGTTGCCTTTTGAAACACTTCTCTGTTTCACTGTGGGTGTGTAGAAGCTATGAACTCGGAACTTTCGTTGTTTTCCGAGGACCGGAAGAAGATGTGCAAGAAATCCTGTCGAGTAGAATCTCATCACAGGGGCGTGGGCAGCCCAGGAGTTGGCGGGTATGTAGAGAGAGGTGTCAAAAATAGTAATTGAGAGTGAGCTTTGGGAGGAAGATGTTGGAAATAAAGATGGTGGAAGAAAGAGGAGTGCTGAGGAAAGGTGCTCTGAAAGATCGTCCTGGTGGGAGACACATGGGGATCTAGAGTGGAAATGTTACGGGATCTCTGGGGTGTTGATTTTTCTGGCTGGAAACCTCTGCGGCCGCAGCACCTTTGCCTCAGTTCTTGTCCTGCATCCAGGAAGAATGAGGTACGCAGATTAGTGAAGGGTGAAGAACAGTTTTATTTAGTGTTAGAACAGCTCAGAGTAGTGGGTAGCTCCTCTCTGTAGGCAGGTCATCCGTCGAGTGTTCAGCTGTCAGCAGAGGAGGCCCTGGAGAGGGTGGCTCCTCTCTGCAGGCAAGTCACTTGGACATCTCTGCAGGTCTCTGAAGCTCTCAGCAGAGAGCATAGATCCTCTCTGCCCTCTCCGTCCTCTGGCTGTCCTCTCGCCTTCTCTGACTGAGCCCAGGGCTTTTATGGACCTCAAGAGGGAAGGAAGGATGTGCCAATTGGTCCATGGGTGGCCATGGGCGGGCCTGGAATAGGTACCATGAGTCCTCACTCTGGTCCACAGGACTGGCAGCCCAGCTGCCAGCCTTCAGGCCCTTCCTGGCCTTCCACTGTCCCCTTCCACTCAGGACTCTGTCTGCCTCCCGCTGCCATTCATGGCCCTGGGGCTTGGCTCCAATCCCACTCTGAGATCCGAGTGGGTGCTGGGAGCTGAGAGAGGCCAGGCAGTGGAAGCAGACACCCATGACCCTGCAGGGATGGTGTGGGGGTTGTCCTTCCTGGGGCGCCTGAGGGTGCAGGCTGCAGAGTGGGAGGGCAGCTACAGCT
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TGTTGTTGCCACTTGTTGTTTGTTTAGTGACTTTTCTGGACTAATTCTGTAAAATCTGTATTTTTTGTCTTGCGTGGCCACTAAAGTCTAATACAACTTAGTGGCCAGCTAGTGATTAGACAGAAATCCCCCTGAACTCCTGGAGCCATAAATGCCCCAGTCTTTGCTGAGTGGCTCTGTGTGTGTGCTTGGGCACACCTCCAACACAGAGCCAGGCTGTTTGTGACTCTCAGCTTTCACTTCCCGTTTGTGCAGTGCGTTGAGCTGAGCCACAGATGAGAGCTGAGGGCCTCCCGAGGTCTTTCCTGAGCCCTGTACATGTGTGTGGCCTTCTAGATTCCCAGGAATATGTTGGAGCTTTTCAAAGCCCCCTGAGGATATCTCATTCCCCAGCTTAAAACTTTGGTTATCCTATCATTTGCTCCGACCATTATTCTCTGTCTTAGAAAACTGTGATGTTCAACAATTACCTCTGATTGTTTTTGACAGACACCACCAGGGAAAAGGCTGTTTGTATTACATGAGCTCAGATAAAGTCTTTTGAGTGTGGTCTACCAGAGGATTCCCAGACAGATGAGATAAGCACAGTTTCTGGAGTGGGGCTTTTCAGGAATGCCAACCCTGTTCTGCACCCCCCGGGGCTGGCAGGTGCTGGTTTTCACCCTGACTTCAGGCTGAGGGTTTCAAGGCTGCCATAGGGATGGCTGGGAATAGGGCAGGTTTCAGTGCCACCGAGCTCCCGTGCTGACGGGGATTCAGATGCTTTTCTGGAATGAACACTTCCCTGATTGCTGCAGCCTTTGGCGAGTTTCCAGAGTTCTGAGAAAGTTGATTCTGACCATTTGCCGATGTCTTGTTGCTTTCGTGGAGGAGAGAATTCTCAGAGCTTGTGAGAGTCTCTTTGCTGACATCCTTCTCTGGCTTCAAGGACAGCACTTGCTGGAAATCAGGAGGCATCCCCTGAGCCCCACAAGGTCAGCTTGTGGCCTTTGTGGCCTTTCTGTTCCCTGCTGGTTGTTGGGGAACTAGAGTGAGTTCCTGGAAGTGCTTCTCCATCATGAAGTCTGGTTTCTCTCTGTACTGTGAAGTCACATCTGTGACCTAAACATGTCTCTTAATTATCCAAAGCCCAGCCAAGTTCTGTCTCCTCTGTGGGTGCTTTTTCTAGCCATCTCTGAAGAGTCAATCTTGAGAAATTTCTCAGTATGTCTTCATCATGGCATTATGTACATATCATTAGCATAATTCACTCAGATGGAAGGCAGAAAGGGTGGGAACTAACATTGATCACATTTATGGAAACCTGCCTTCTCGTGCTGGGCACTTTATATATGTTATCTCCCTTTGTGGTGCAATCTCATGACATGCAGTCATTGTCCATGTTTGTGGGTGAGGAAACAGGCTTAGGGGTGGGAGGCTCGCCTGAGGCCCCACACTGTTGGCTGGAGACAGCGTGGGGCCTGAGTCTTGCTCACAGCCTGAACGCTGCACTCTGCTGCTCCGCGTCCCAGGAAGGAAAAGCTGCTGCAGTGGGTTTGTGTTGCCAAATACATGGAGGCTTTTTTCTGGGTGAGTGCCCAGCAGTTGATTGTTCTGTATGTCCAAGAAAGTCACCTTAGAAAAGAATTAGGTTCTAAATTTAGAAAATAATTGAGTTACAATATTTAGAACTCAGACAGCATCCCTTGGGCTTGGGGTCACAGCCCCGAAGGGGTGATTAATTTTGCCAATTGAAGATCAGAGGGGCCTGTGGCCAGAGTACCCACTGCTTAAGACACAGGTGAGCTGGAACCATGAGTTTTAAAATGTCTTGGCCAAGTTTTTATTACAAGATACAAATTTATCCCACACAGTTGCAATGCAAGCCTTGATGAAACCCCAGCTTGATGGTGTCTCCTCTGGTGTGGCTGCGCTGTTGGGAAGCAGCTGTGCCCCTGGAGACTCCCGGCTCCCTGTTTCCACCAGGTGCGTCTGCCGATGGCCCCCTGAAGTTGCTGCCCGAGAGCTACTTCGACGTGGTGGTCATTGACGAGTGTGCCCAGGCCCTCAAGGCGAGCTGCTGGATCCCCCTGCTGAAGGCCAGAAAGTGCATCCTGGCGGGCGATCACAAGCAGCTGCCCCCCACCACAGTCTCTCACAAGTAAGACCCCTTTGCCTCACATGCCCTTCTCTGCCCCCGCCCTCCTGCGGTCCTTCCACGCTCAGCCAGGAGCCCCAGGCTCACCAGGAGCCCCTGCGGTGCCTCCTCGGTTTCTCGGCACAGCTCCTACCCCGTCTTACAGCATTCATTCATCTCAACGTCGCATCTGTGAGATCATGTACTCCCCGAGGGTGGGGTCGCATCACCTTCATCTTTGTAGCTTCAGAACTGGACACAGGGCCTGGCACGTTTCTGGTGTTCCGTCCCTGCTTGTTGAGTTGAATATCCCCTCATGAACCAGGCAGGTTTGATGGTAGAGTGCCGTGAGAGCCTTGGGCTGGGCTAACTGGCCTCTGGGTGGATGTGGGTTCTTTAGTCTTCAATCTGTAGACACATCCCTGGATGGAGGGCACTGGGCAGAGACTCAGCAAACCATGGTTCTGCCGTGCGGAGACACCGGAGCCCTGATGCAGTGGCCTGGCCCAGGCTGTCCTGGTGGAGACACTGGAGTCCTGATGCGGTGGCCTGGCCCAGGCTGTCCTGGTGGAGACACTGGAGCCCTGATGCAGTGGCCTGGCCCAGGCTGTCTTGGTGGAGAAAGTGCTGCCCGCCCCCCCAGCCCCCCTCTCACCTCTCCCCATACTACCCAGCACTCACTGCTTCAGCCACACAGGCCTCGCTGGCCCCTCTGCCTGGACCACTCCTGCCTGGGTGTGGCGGGCGTGCCCTCTCTCCAGATGAACCCTCTGCATGGTATCCCTTGACTGCCCTTACACGAGGCCTGTGAACAGGGCCTGGCACGTGGGCTGTCCTTGGACAAGTCCCTGTTCAGAAAGTTGTCCCTGAGGAATGAAACACTTCTGAGACTCCTGCATCCTGGCCCTCACTTCCACCGGGGGAAGATTGATTTCTTCAGATTTCGGTTGCCTTTTGAAACACTTCTCTGTTTCACTGTGGGTGTGTAGAAGCTATGAACTCGGAACTTTCGTTGTTTTCCGAGGACCGGAAGAAGATGTGCAAGAAATCCTGTCGAGTAGAATCTCATCACAGGGGCGTGGGCAGCCCAGGAGTTGGCGGGTATGTAGAGAGAGGTGTCAAAAATAGTAATTGAGAGTGAGCTTTGGGAGGAAGATGTTGGAAATAAAGATGGTGGAAGAAAGAGGAGTGCTGAGGAAAGGTGCTCTGAAAGATCGTCCTGGTGGGAGACACATGGGGATCTAGAGTGGAAATGTTACGGGATCTCTGGGGTGTTGATTTTTCTGGCTGGAAACCTCTGCGGCCGCAGCACCTTTGCCTCAGTTCTTGTCCTGCATCCAGGAAGAATGAGGTACGCAGATTAGTGAAGGGTGAAGAACAGTTTTATTTAGTGTTAGAACAGCTCAGAGTAGTGGGTAGCTCCTCTCTGTAGGCAGGTCATCCGTCGAGTGTTCAGCTGTCAGCAGAGGAGGCCCTGGAGAGGGTGGCTCCTCTCTGCAGGCAAGTCACTTGGACATCTCTGCAGGTCTCTGAAGCTCTCAGCAGAGAGCATAGATCCTCTCTGCCCTCTCCGTCCTCTGGCTGTCCTCTCGCCTTCTCTGACTGAGCCCAGGGCTTTTATGGACCTCAAGAGGGAAGGAAGGATGTGCCAATTGGTCCATGGGTGGCCATGGGCGGGCCTGGAATAGGTACCATGAGTCCTCACTCTGGTCCACAGGACTGGCAGCCCAGCTGCCAGCCTTCAGGCCCTTCCTGGCCTTCCACTGTCCCCTTCCACTCAGGACTCTGTCTGCCTCCCGCTGCCATTCATGGCCCTGGGGCTTGGCTCCAATCCCACTCTGAGATCCGAGTGGGTGCTGGGAGCTGAGAGAGGCCAGGCAGTGGAAGCAGACACCCATGACCCTGCAGGGATGGTGTGGGGGTTGTCCTTCCTGGGGCGCCTGAGGGTGCAGGCTGCAGAGTGGGAGGGCAGCTACAGCT
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Task1_train_16219
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The gene IGHMBP2 (immunoglobulin mu DNA binding protein 2) 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; Charcot-Marie-Tooth disease axonal type 2S
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TATTTTTTGTCTTGCGTGGCCACTAAAGTCTAATACAACTTAGTGGCCAGCTAGTGATTAGACAGAAATCCCCCTGAACTCCTGGAGCCATAAATGCCCCAGTCTTTGCTGAGTGGCTCTGTGTGTGTGCTTGGGCACACCTCCAACACAGAGCCAGGCTGTTTGTGACTCTCAGCTTTCACTTCCCGTTTGTGCAGTGCGTTGAGCTGAGCCACAGATGAGAGCTGAGGGCCTCCCGAGGTCTTTCCTGAGCCCTGTACATGTGTGTGGCCTTCTAGATTCCCAGGAATATGTTGGAGCTTTTCAAAGCCCCCTGAGGATATCTCATTCCCCAGCTTAAAACTTTGGTTATCCTATCATTTGCTCCGACCATTATTCTCTGTCTTAGAAAACTGTGATGTTCAACAATTACCTCTGATTGTTTTTGACAGACACCACCAGGGAAAAGGCTGTTTGTATTACATGAGCTCAGATAAAGTCTTTTGAGTGTGGTCTACCAGAGGATTCCCAGACAGATGAGATAAGCACAGTTTCTGGAGTGGGGCTTTTCAGGAATGCCAACCCTGTTCTGCACCCCCCGGGGCTGGCAGGTGCTGGTTTTCACCCTGACTTCAGGCTGAGGGTTTCAAGGCTGCCATAGGGATGGCTGGGAATAGGGCAGGTTTCAGTGCCACCGAGCTCCCGTGCTGACGGGGATTCAGATGCTTTTCTGGAATGAACACTTCCCTGATTGCTGCAGCCTTTGGCGAGTTTCCAGAGTTCTGAGAAAGTTGATTCTGACCATTTGCCGATGTCTTGTTGCTTTCGTGGAGGAGAGAATTCTCAGAGCTTGTGAGAGTCTCTTTGCTGACATCCTTCTCTGGCTTCAAGGACAGCACTTGCTGGAAATCAGGAGGCATCCCCTGAGCCCCACAAGGTCAGCTTGTGGCCTTTGTGGCCTTTCTGTTCCCTGCTGGTTGTTGGGGAACTAGAGTGAGTTCCTGGAAGTGCTTCTCCATCATGAAGTCTGGTTTCTCTCTGTACTGTGAAGTCACATCTGTGACCTAAACATGTCTCTTAATTATCCAAAGCCCAGCCAAGTTCTGTCTCCTCTGTGGGTGCTTTTTCTAGCCATCTCTGAAGAGTCAATCTTGAGAAATTTCTCAGTATGTCTTCATCATGGCATTATGTACATATCATTAGCATAATTCACTCAGATGGAAGGCAGAAAGGGTGGGAACTAACATTGATCACATTTATGGAAACCTGCCTTCTCGTGCTGGGCACTTTATATATGTTATCTCCCTTTGTGGTGCAATCTCATGACATGCAGTCATTGTCCATGTTTGTGGGTGAGGAAACAGGCTTAGGGGTGGGAGGCTCGCCTGAGGCCCCACACTGTTGGCTGGAGACAGCGTGGGGCCTGAGTCTTGCTCACAGCCTGAACGCTGCACTCTGCTGCTCCGCGTCCCAGGAAGGAAAAGCTGCTGCAGTGGGTTTGTGTTGCCAAATACATGGAGGCTTTTTTCTGGGTGAGTGCCCAGCAGTTGATTGTTCTGTATGTCCAAGAAAGTCACCTTAGAAAAGAATTAGGTTCTAAATTTAGAAAATAATTGAGTTACAATATTTAGAACTCAGACAGCATCCCTTGGGCTTGGGGTCACAGCCCCGAAGGGGTGATTAATTTTGCCAATTGAAGATCAGAGGGGCCTGTGGCCAGAGTACCCACTGCTTAAGACACAGGTGAGCTGGAACCATGAGTTTTAAAATGTCTTGGCCAAGTTTTTATTACAAGATACAAATTTATCCCACACAGTTGCAATGCAAGCCTTGATGAAACCCCAGCTTGATGGTGTCTCCTCTGGTGTGGCTGCGCTGTTGGGAAGCAGCTGTGCCCCTGGAGACTCCCGGCTCCCTGTTTCCACCAGGTGCGTCTGCCGATGGCCCCCTGAAGTTGCTGCCCGAGAGCTACTTCGACGTGGTGGTCATTGACGAGTGTGCCCAGGCCCTCGAGGCGAGCTGCTGGATCCCCCTGCTGAAGGCCAGAAAGTGCATCCTGGCGGGCGATCACAAGCAGCTGCCCCCCACCACAGTCTCTCACAAGTAAGACCCCTTTGCCTCACATGCCCTTCTCTGCCCCCGCCCTCCTGCGGTCCTTCCACGCTCAGCCAGGAGCCCCAGGCTCACCAGGAGCCCCTGCGGTGCCTCCTCGGTTTCTCGGCACAGCTCCTACCCCGTCTTACAGCATTCATTCATCTCAACGTCGCATCTGTGAGATCATGTACTCCCCGAGGGTGGGGTCGCATCACCTTCATCTTTGTAGCTTCAGAACTGGACACAGGGCCTGGCACGTTTCTGGTGTTCCGTCCCTGCTTGTTGAGTTGAATATCCCCTCATGAACCAGGCAGGTTTGATGGTAGAGTGCCGTGAGAGCCTTGGGCTGGGCTAACTGGCCTCTGGGTGGATGTGGGTTCTTTAGTCTTCAATCTGTAGACACATCCCTGGATGGAGGGCACTGGGCAGAGACTCAGCAAACCATGGTTCTGCCGTGCGGAGACACCGGAGCCCTGATGCAGTGGCCTGGCCCAGGCTGTCCTGGTGGAGACACTGGAGTCCTGATGCGGTGGCCTGGCCCAGGCTGTCCTGGTGGAGACACTGGAGCCCTGATGCAGTGGCCTGGCCCAGGCTGTCTTGGTGGAGAAAGTGCTGCCCGCCCCCCCAGCCCCCCTCTCACCTCTCCCCATACTACCCAGCACTCACTGCTTCAGCCACACAGGCCTCGCTGGCCCCTCTGCCTGGACCACTCCTGCCTGGGTGTGGCGGGCGTGCCCTCTCTCCAGATGAACCCTCTGCATGGTATCCCTTGACTGCCCTTACACGAGGCCTGTGAACAGGGCCTGGCACGTGGGCTGTCCTTGGACAAGTCCCTGTTCAGAAAGTTGTCCCTGAGGAATGAAACACTTCTGAGACTCCTGCATCCTGGCCCTCACTTCCACCGGGGGAAGATTGATTTCTTCAGATTTCGGTTGCCTTTTGAAACACTTCTCTGTTTCACTGTGGGTGTGTAGAAGCTATGAACTCGGAACTTTCGTTGTTTTCCGAGGACCGGAAGAAGATGTGCAAGAAATCCTGTCGAGTAGAATCTCATCACAGGGGCGTGGGCAGCCCAGGAGTTGGCGGGTATGTAGAGAGAGGTGTCAAAAATAGTAATTGAGAGTGAGCTTTGGGAGGAAGATGTTGGAAATAAAGATGGTGGAAGAAAGAGGAGTGCTGAGGAAAGGTGCTCTGAAAGATCGTCCTGGTGGGAGACACATGGGGATCTAGAGTGGAAATGTTACGGGATCTCTGGGGTGTTGATTTTTCTGGCTGGAAACCTCTGCGGCCGCAGCACCTTTGCCTCAGTTCTTGTCCTGCATCCAGGAAGAATGAGGTACGCAGATTAGTGAAGGGTGAAGAACAGTTTTATTTAGTGTTAGAACAGCTCAGAGTAGTGGGTAGCTCCTCTCTGTAGGCAGGTCATCCGTCGAGTGTTCAGCTGTCAGCAGAGGAGGCCCTGGAGAGGGTGGCTCCTCTCTGCAGGCAAGTCACTTGGACATCTCTGCAGGTCTCTGAAGCTCTCAGCAGAGAGCATAGATCCTCTCTGCCCTCTCCGTCCTCTGGCTGTCCTCTCGCCTTCTCTGACTGAGCCCAGGGCTTTTATGGACCTCAAGAGGGAAGGAAGGATGTGCCAATTGGTCCATGGGTGGCCATGGGCGGGCCTGGAATAGGTACCATGAGTCCTCACTCTGGTCCACAGGACTGGCAGCCCAGCTGCCAGCCTTCAGGCCCTTCCTGGCCTTCCACTGTCCCCTTCCACTCAGGACTCTGTCTGCCTCCCGCTGCCATTCATGGCCCTGGGGCTTGGCTCCAATCCCACTCTGAGATCCGAGTGGGTGCTGGGAGCTGAGAGAGGCCAGGCAGTGGAAGCAGACACCCATGACCCTGCAGGGATGGTGTGGGGGTTGTCCTTCCTGGGGCGCCTGAGGGTGCAGGCTGCAGAGTGGGAGGGCAGCTACAGCTGCACCCAAGAGCTCCCGACCCACCACCTCAGAAGAGGCCAGGCTCCTGCTTGTTCCCG
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TATTTTTTGTCTTGCGTGGCCACTAAAGTCTAATACAACTTAGTGGCCAGCTAGTGATTAGACAGAAATCCCCCTGAACTCCTGGAGCCATAAATGCCCCAGTCTTTGCTGAGTGGCTCTGTGTGTGTGCTTGGGCACACCTCCAACACAGAGCCAGGCTGTTTGTGACTCTCAGCTTTCACTTCCCGTTTGTGCAGTGCGTTGAGCTGAGCCACAGATGAGAGCTGAGGGCCTCCCGAGGTCTTTCCTGAGCCCTGTACATGTGTGTGGCCTTCTAGATTCCCAGGAATATGTTGGAGCTTTTCAAAGCCCCCTGAGGATATCTCATTCCCCAGCTTAAAACTTTGGTTATCCTATCATTTGCTCCGACCATTATTCTCTGTCTTAGAAAACTGTGATGTTCAACAATTACCTCTGATTGTTTTTGACAGACACCACCAGGGAAAAGGCTGTTTGTATTACATGAGCTCAGATAAAGTCTTTTGAGTGTGGTCTACCAGAGGATTCCCAGACAGATGAGATAAGCACAGTTTCTGGAGTGGGGCTTTTCAGGAATGCCAACCCTGTTCTGCACCCCCCGGGGCTGGCAGGTGCTGGTTTTCACCCTGACTTCAGGCTGAGGGTTTCAAGGCTGCCATAGGGATGGCTGGGAATAGGGCAGGTTTCAGTGCCACCGAGCTCCCGTGCTGACGGGGATTCAGATGCTTTTCTGGAATGAACACTTCCCTGATTGCTGCAGCCTTTGGCGAGTTTCCAGAGTTCTGAGAAAGTTGATTCTGACCATTTGCCGATGTCTTGTTGCTTTCGTGGAGGAGAGAATTCTCAGAGCTTGTGAGAGTCTCTTTGCTGACATCCTTCTCTGGCTTCAAGGACAGCACTTGCTGGAAATCAGGAGGCATCCCCTGAGCCCCACAAGGTCAGCTTGTGGCCTTTGTGGCCTTTCTGTTCCCTGCTGGTTGTTGGGGAACTAGAGTGAGTTCCTGGAAGTGCTTCTCCATCATGAAGTCTGGTTTCTCTCTGTACTGTGAAGTCACATCTGTGACCTAAACATGTCTCTTAATTATCCAAAGCCCAGCCAAGTTCTGTCTCCTCTGTGGGTGCTTTTTCTAGCCATCTCTGAAGAGTCAATCTTGAGAAATTTCTCAGTATGTCTTCATCATGGCATTATGTACATATCATTAGCATAATTCACTCAGATGGAAGGCAGAAAGGGTGGGAACTAACATTGATCACATTTATGGAAACCTGCCTTCTCGTGCTGGGCACTTTATATATGTTATCTCCCTTTGTGGTGCAATCTCATGACATGCAGTCATTGTCCATGTTTGTGGGTGAGGAAACAGGCTTAGGGGTGGGAGGCTCGCCTGAGGCCCCACACTGTTGGCTGGAGACAGCGTGGGGCCTGAGTCTTGCTCACAGCCTGAACGCTGCACTCTGCTGCTCCGCGTCCCAGGAAGGAAAAGCTGCTGCAGTGGGTTTGTGTTGCCAAATACATGGAGGCTTTTTTCTGGGTGAGTGCCCAGCAGTTGATTGTTCTGTATGTCCAAGAAAGTCACCTTAGAAAAGAATTAGGTTCTAAATTTAGAAAATAATTGAGTTACAATATTTAGAACTCAGACAGCATCCCTTGGGCTTGGGGTCACAGCCCCGAAGGGGTGATTAATTTTGCCAATTGAAGATCAGAGGGGCCTGTGGCCAGAGTACCCACTGCTTAAGACACAGGTGAGCTGGAACCATGAGTTTTAAAATGTCTTGGCCAAGTTTTTATTACAAGATACAAATTTATCCCACACAGTTGCAATGCAAGCCTTGATGAAACCCCAGCTTGATGGTGTCTCCTCTGGTGTGGCTGCGCTGTTGGGAAGCAGCTGTGCCCCTGGAGACTCCCGGCTCCCTGTTTCCACCAGGTGCGTCTGCCGATGGCCCCCTGAAGTTGCTGCCCGAGAGCTACTTCGACGTGGTGGTCATTGACGAGTGTGCCCAGGCCCTCGAGGCGAGCTGCTGGATCCCCCTGCTGAAGGCCAGAAAGTGCATCCTGGCGGGCGATCGCAAGCAGCTGCCCCCCACCACAGTCTCTCACAAGTAAGACCCCTTTGCCTCACATGCCCTTCTCTGCCCCCGCCCTCCTGCGGTCCTTCCACGCTCAGCCAGGAGCCCCAGGCTCACCAGGAGCCCCTGCGGTGCCTCCTCGGTTTCTCGGCACAGCTCCTACCCCGTCTTACAGCATTCATTCATCTCAACGTCGCATCTGTGAGATCATGTACTCCCCGAGGGTGGGGTCGCATCACCTTCATCTTTGTAGCTTCAGAACTGGACACAGGGCCTGGCACGTTTCTGGTGTTCCGTCCCTGCTTGTTGAGTTGAATATCCCCTCATGAACCAGGCAGGTTTGATGGTAGAGTGCCGTGAGAGCCTTGGGCTGGGCTAACTGGCCTCTGGGTGGATGTGGGTTCTTTAGTCTTCAATCTGTAGACACATCCCTGGATGGAGGGCACTGGGCAGAGACTCAGCAAACCATGGTTCTGCCGTGCGGAGACACCGGAGCCCTGATGCAGTGGCCTGGCCCAGGCTGTCCTGGTGGAGACACTGGAGTCCTGATGCGGTGGCCTGGCCCAGGCTGTCCTGGTGGAGACACTGGAGCCCTGATGCAGTGGCCTGGCCCAGGCTGTCTTGGTGGAGAAAGTGCTGCCCGCCCCCCCAGCCCCCCTCTCACCTCTCCCCATACTACCCAGCACTCACTGCTTCAGCCACACAGGCCTCGCTGGCCCCTCTGCCTGGACCACTCCTGCCTGGGTGTGGCGGGCGTGCCCTCTCTCCAGATGAACCCTCTGCATGGTATCCCTTGACTGCCCTTACACGAGGCCTGTGAACAGGGCCTGGCACGTGGGCTGTCCTTGGACAAGTCCCTGTTCAGAAAGTTGTCCCTGAGGAATGAAACACTTCTGAGACTCCTGCATCCTGGCCCTCACTTCCACCGGGGGAAGATTGATTTCTTCAGATTTCGGTTGCCTTTTGAAACACTTCTCTGTTTCACTGTGGGTGTGTAGAAGCTATGAACTCGGAACTTTCGTTGTTTTCCGAGGACCGGAAGAAGATGTGCAAGAAATCCTGTCGAGTAGAATCTCATCACAGGGGCGTGGGCAGCCCAGGAGTTGGCGGGTATGTAGAGAGAGGTGTCAAAAATAGTAATTGAGAGTGAGCTTTGGGAGGAAGATGTTGGAAATAAAGATGGTGGAAGAAAGAGGAGTGCTGAGGAAAGGTGCTCTGAAAGATCGTCCTGGTGGGAGACACATGGGGATCTAGAGTGGAAATGTTACGGGATCTCTGGGGTGTTGATTTTTCTGGCTGGAAACCTCTGCGGCCGCAGCACCTTTGCCTCAGTTCTTGTCCTGCATCCAGGAAGAATGAGGTACGCAGATTAGTGAAGGGTGAAGAACAGTTTTATTTAGTGTTAGAACAGCTCAGAGTAGTGGGTAGCTCCTCTCTGTAGGCAGGTCATCCGTCGAGTGTTCAGCTGTCAGCAGAGGAGGCCCTGGAGAGGGTGGCTCCTCTCTGCAGGCAAGTCACTTGGACATCTCTGCAGGTCTCTGAAGCTCTCAGCAGAGAGCATAGATCCTCTCTGCCCTCTCCGTCCTCTGGCTGTCCTCTCGCCTTCTCTGACTGAGCCCAGGGCTTTTATGGACCTCAAGAGGGAAGGAAGGATGTGCCAATTGGTCCATGGGTGGCCATGGGCGGGCCTGGAATAGGTACCATGAGTCCTCACTCTGGTCCACAGGACTGGCAGCCCAGCTGCCAGCCTTCAGGCCCTTCCTGGCCTTCCACTGTCCCCTTCCACTCAGGACTCTGTCTGCCTCCCGCTGCCATTCATGGCCCTGGGGCTTGGCTCCAATCCCACTCTGAGATCCGAGTGGGTGCTGGGAGCTGAGAGAGGCCAGGCAGTGGAAGCAGACACCCATGACCCTGCAGGGATGGTGTGGGGGTTGTCCTTCCTGGGGCGCCTGAGGGTGCAGGCTGCAGAGTGGGAGGGCAGCTACAGCTGCACCCAAGAGCTCCCGACCCACCACCTCAGAAGAGGCCAGGCTCCTGCTTGTTCCCG
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Task1_train_16220
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A variant has been detected on Chromosome 11 in IGHMBP2 (immunoglobulin mu DNA binding protein 2). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Autosomal recessive distal spinal muscular atrophy 1
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AGCCTTTGGGTGGAGGAAGTTTGGAACTGTGCCCTTGAGCAGGGACCCTGTTGTGTAGGAGGGAGTAGGATGGTTTCGGGGGAAGACGTTGGGTGGCGTTCCCTGCAGAGAGTAGGATGGTTTTGGGGGAAGACGTTGGGTGGCGTTCCCTGGAGAGAGTAGGATGGTTTTGGGGGAAGACGTTGGGTGGTGTTCCCTGGAGAGAGTAGGATGGTTTCGGGGAAAACATTGGGTGGCATTCCCTGGAGACAGTAGGATGGTTTCGGGGAAAACATTGGGTGGCGTTCCCTGGAGAGAGTAGGATGGTTTCGGGGGAAGACGTTGGGTGGCATTCCCTGGAGAGAGTAGAATGGTTTCGGGGGAAGACGTTGGGTGGCGTTCCCTGCAGAGAGTAGGATGGTTTTTGGGGGAGGACGTTGGGTGACGTTGCGCTGAGTGTTTTGGGTTTGCAGTTGGTACTGATCATCGCGTCCTGTCCTCATTTTGTTGGAATTAAAAATACGTTAATCACAGAGGTCTGGTAAGTTTCCAGAGGGAAGGTCTCTGAAGTGGAGCTGGGTACTGCCCCAGGGTTTTGGTGGGGTTGGTGAGCCGTAGTGGTGCAGAGGGTGGGCTCTGGCACCAGGTGGCCCGGGCAGGTCCTGGCTCTGCAGCTCACCCGGGCAGCTGTGGGCTGGCAGCCTCCTCTGTCTCACCCTTCTTACATGTAATATGGGAGTCATAACAGTAGCCACCTCATGAGGTTGTTATAAGGATGAAGGGAGTTAATCCACATCTGGCACACCCAGCAGTGCCTGGCGCCTGGGCAGTGCTCAGCCGCTGCAGCCGTTCTTGGTGGGAGTGGACTTGACTGCTCACAGTTGGAGCATGTTGGAGTGTGTTCGTTCCCTGTTATGGCTGTGACAAATGACCACAAGCTTAGTGGCTGACAACAACAGATTTTCTGACCTCCAGAAACGACAATCTGGGGGTCAGATGTCCAAAATCAGACTCACCGGCTTAAAATCAAGGTGTGGGTGGGGTTGCTTCTTCTGGAGGATCCAGGGGAAAACCCATCTCCTGGTCTTTTCCGGCTCCTAGAGGCCACTGCTTGACTTGTTGCCCTTTCCTCTGTCTATGAAGCCAGCCGTGTTACGTCTTCAAATCTCTCCCCTCGGTGACCTTCTCTGACTGACCCTCGCATGCCCCCTTATAAGACCCTTGGGTTATCACCTGGGTCATCCAGGGTCGCCTCCCCATCCCAGGATCCTTAACTTCATCTCAGCTGCAGCGTCCCTGTTGTCCTGTAAGGGAACATTCACGGGCCTTGGCGATTGGATGTAGGTGCCTTTGGGGCTGTGATTCAGCCAAACCCGCCCCTTGGTTACTTCTGGGTCAGAATCCAGGGGAGAGTTGGGTCCTGAGGTTTGGGGCCTGTCCTCCTCACTTGCTGTGGTTCACACCTGGACTCTGGGGCTCAGGCCTGCCTTCCCCCTTTCTCCCTCCTGGGCGCAGGGCTGCGCTGGCAGGACTGTCACTCAGCCTGATGGAACGCCTGGCTGAGGAGTACGGCGCGAGGGTGGTGCGGACACTGACGGTGCAGTACCGCATGCACCAGGCTATCATGCGCTGGGCCTCAGACACCATGTACCTTGGGCAGCTCACAGCCCACTCTTCCGTGGCAAGGCACCTCCTGAGGTGAGTAGCTCGGCACCACCCGCCGCCCCATCCTTCTGCCCTGGCTAATCCTCTGCGTCACCTGTTTCTACGCAGCAAGCTAAAGTGAAGCTTTCTGCATGAAAGTCGACTCTGAGGCTAGCTTTTTGGAAGAGAGGGTGGCCTTGCCCTGGAGAGCTGGGTCAGGCCCGCTCCCTCCCTTCTGATGTCCTGATGTGCTCATTGTCCTCCCCTACCTAAGCCTTTTCCTCGTGGGAGGGGTCGGTTCTGTTGGGTGGGGCCTCAGTGCTGCACTGTGGCCCCCTGATGTGCTCCCTCTCTGCCTGTGTGCCAGGGACCTCCCAGGTGTGGCTGCCACAGAAGAGACGGGTGTGCCCCTGCTCTTGGTGGACACCGCCGGCTGCGGGCTGTTTGAGCTGGAGGAGGAGGACGAACAGTCGAAAGGGAACCCTGGTGAGCTTGCTTGCAGATGGCCAGCTTTTTTGTTTAAACATACCTCCAGCTCTTTAAAAATAAAAGGCACTTTAATTGCCTAATTCCGGGAGGAGCTGAGAGCAGTTGTTGATGGCCGTGAAAAAACGGAGCCCCACACTGCAAGAGGCTGAGCAGCATCGTTTTCTCCAGGGTGAGCAGACCGCTCCTGGGTGAGATGGGCCTGGCAGCATTTTACGGCCTTCTCCTGAATGGTGGCCCAGCTCTGCCTGGCTGGTCTGGTGATGGGAACTGTCATTGCTCAGCTGACACCACCATCTCCCCAGTTCCACGTTGAACAGGATGCACGGCCATAGGAGTCAAAAGGCCTTCATTGCTGATGTGAAATTCAAGTTAGCTGGGCATGGCTGGTCCTGGGGCCCTGGGACACAGATGATTAGCTCCCAGGAAGCCACCTGAGTGGAGGATCAGCTGGCCATGATAGACAGAAACGTGCCCGAAACACGTGTTGGTGGTGGATGCCCACTTGGGGCGACCTTGTGCTGCTCACCCGTTCTTTCTTTCCCTCCAGGCGAAGTCCGCCTCGTCAGTTTGCACATCCAGGCTCTGGTGGACGCTGGTGTTCCAGCCCGTGACATTGCTGTGGTCTCGCCATACAACCTCCAGGTACGAGGGTTTCCTTTTGTCCCTCTACAGAGCAGCTGGGGCTCACACAACCTAGAGGGTGAAAGAAAAAGGGTGATTTGTTGGCTGTGGTGACCGAAAAGTTCAGGGGTAGGGCTGACCTTATTGTGACTGGATCCAGGGCCCAAATGATGTCGTCAGGGGCCCCTCTGCGTGTTCGTCTGCCCGCCCCACCTTGCCCCGCCCTGCCCGGTGCCCCAGCCTTCTGCACTGGCTTGTGTTCTGGCCAGATTTGCTGGGTGACCCCGGCAGCCTCAGGCTGACACAGTCCTTCCACGGGCAGCCCTGGCGGAACAGCCTGTCCTTTTCTGGCATTTCCCACAGGAGTCTCAGCCTTGAGCCTTGCTGGTCTGGCTCAGGTCGTGTTCCCATGCGTATCTCATTTGGTAGGAAAAATGTACCTTCTGGAGTATCGGGAGGATCTGTGGAAGTGGCCATCATACCTTCCTGGTGTGCAGGCATCACACATAGGGCTGTCTGAGGCTGGCGGCTGTCATAAGCCAAAAGAAATGATCAAATGCCAGGGACAGGGTGTGGTATTGGCGTGCATGCGTGCCCGTGAGGAGGGCGAACGGGAAGCCTTTCCCCATGGGGCTCCTGCAGGCTCCGCTTCCCAGGTCCTGGCTGTTTCACAGCGTGAGGCCCTCTGCTGAGCTGAAGGGCAGGGTCTTGCTGCGCTGGCATGGGTGGGTGAGGAAACCACAGCCCGGCTGGTGTTTCAGGTGGACCTGCTCAGACAGAGCCTTGTGCACAGGCACCCTGAGCTTGAAATCAAGTCTGTCGATGGCTTCCAAGGCCGAGAGAAGGAGGCCGTGATACTGTCCTTCGTCAGATCCAACAGGAAAGGTACGGAGCCCTCGCCAGAGTCCTTTGGGGACAGCACAGAAGTGAATTTATTGATTGAGGGGCATATTGGGTGTCTGCTGGGTGCCACACTGGTTTCTGGCAGTGTGCTCATGGTGCACCTTCTGTCCTTAGTAAGTTCACGTCAGGCAAAGCACAGGCAAGAGAGTCTGCAGAGGCTCAGAGGCGTGAGTGTGCTGTCAGGGAGCAGGTGGCTGGGGTGGCAGCTGGGGGCGCAGGGTGGGCTGGGAATGATCAGGACATCCTGCCGAGGAGGTGAAGCCCCCTGCAGCCCAGAGCTGGCCTTTAGCCTCCATGCACGGAGCCGCGGGGTGTGGTGGTCGTGGCTGTGGTTTCTGTGCTGCTGTGGTGTGTGGGCTTTCCCATTTGGGATGAGCATTGTTCCCAGAAGCAGGTTTAGTGAACGGGCTTTGTGAGACATTCTCAGAAGGCAGAAAGCAGGTGAGGCCTGGCTAGAAGC
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AGCCTTTGGGTGGAGGAAGTTTGGAACTGTGCCCTTGAGCAGGGACCCTGTTGTGTAGGAGGGAGTAGGATGGTTTCGGGGGAAGACGTTGGGTGGCGTTCCCTGCAGAGAGTAGGATGGTTTTGGGGGAAGACGTTGGGTGGCGTTCCCTGGAGAGAGTAGGATGGTTTTGGGGGAAGACGTTGGGTGGTGTTCCCTGGAGAGAGTAGGATGGTTTCGGGGAAAACATTGGGTGGCATTCCCTGGAGACAGTAGGATGGTTTCGGGGAAAACATTGGGTGGCGTTCCCTGGAGAGAGTAGGATGGTTTCGGGGGAAGACGTTGGGTGGCATTCCCTGGAGAGAGTAGAATGGTTTCGGGGGAAGACGTTGGGTGGCGTTCCCTGCAGAGAGTAGGATGGTTTTTGGGGGAGGACGTTGGGTGACGTTGCGCTGAGTGTTTTGGGTTTGCAGTTGGTACTGATCATCGCGTCCTGTCCTCATTTTGTTGGAATTAAAAATACGTTAATCACAGAGGTCTGGTAAGTTTCCAGAGGGAAGGTCTCTGAAGTGGAGCTGGGTACTGCCCCAGGGTTTTGGTGGGGTTGGTGAGCCGTAGTGGTGCAGAGGGTGGGCTCTGGCACCAGGTGGCCCGGGCAGGTCCTGGCTCTGCAGCTCACCCGGGCAGCTGTGGGCTGGCAGCCTCCTCTGTCTCACCCTTCTTACATGTAATATGGGAGTCATAACAGTAGCCACCTCATGAGGTTGTTATAAGGATGAAGGGAGTTAATCCACATCTGGCACACCCAGCAGTGCCTGGCGCCTGGGCAGTGCTCAGCCGCTGCAGCCGTTCTTGGTGGGAGTGGACTTGACTGCTCACAGTTGGAGCATGTTGGAGTGTGTTCGTTCCCTGTTATGGCTGTGACAAATGACCACAAGCTTAGTGGCTGACAACAACAGATTTTCTGACCTCCAGAAACGACAATCTGGGGGTCAGATGTCCAAAATCAGACTCACCGGCTTAAAATCAAGGTGTGGGTGGGGTTGCTTCTTCTGGAGGATCCAGGGGAAAACCCATCTCCTGGTCTTTTCCGGCTCCTAGAGGCCACTGCTTGACTTGTTGCCCTTTCCTCTGTCTATGAAGCCAGCCGTGTTACGTCTTCAAATCTCTCCCCTCGGTGACCTTCTCTGACTGACCCTCGCATGCCCCCTTATAAGACCCTTGGGTTATCACCTGGGTCATCCAGGGTCGCCTCCCCATCCCAGGATCCTTAACTTCATCTCAGCTGCAGCGTCCCTGTTGTCCTGTAAGGGAACATTCACGGGCCTTGGCGATTGGATGTAGGTGCCTTTGGGGCTGTGATTCAGCCAAACCCGCCCCTTGGTTACTTCTGGGTCAGAATCCAGGGGAGAGTTGGGTCCTGAGGTTTGGGGCCTGTCCTCCTCACTTGCTGTGGTTCACACCTGGACTCTGGGGCTCAGGCCTGCCTTCCCCCTTTCTCCCTCCTGGGCGCAGGGCTGCGCTGGCAGGACTGTCACTCAGCCTGATGGAACGCCTGGCTGAGGAGTACGGCGCGAGGGTGGTGCGGACACTGACGGTGCAGTACCGCATGCACCAGGCTATCATGCGCTGGGCCTCAGACACCATGTACCTTGGGCAGCTCACAGCCCACTCTTCCGTGGCAAGGCACCTCCTGAGGTGAGTAGCTCGGCACCACCCGCCGCCCCATCCTTCTGCCCTGGCTAATCCTCTGCGTCACCTGTTTCTACGCAGCAAGCTAAAGTGAAGCTTTCTGCATGAAAGTCGACTCTGAGGCTAGCTTTTTGGAAGAGAGGGTGGCCTTGCCCTGGAGAGCTGGGTCAGGCCCGCTCCCTCCCTTCTGATGTCCTGATGTGCTCATTGTCCTCCCCTACCTAAGCCTTTTCCTCGTGGGAGGGGTCGGTTCTGTTGGGTGGGGCCTCAGTGCTGCACTGTGGCCCCCTGATGTGCTCCCTCTCTGCCTGTGTGCCAGGGACCTCCCAGGTGTGGCTGCCACAGAAGAGACGGGTGTGCCCCTGCTCTTGGTGGACGCCGCCGGCTGCGGGCTGTTTGAGCTGGAGGAGGAGGACGAACAGTCGAAAGGGAACCCTGGTGAGCTTGCTTGCAGATGGCCAGCTTTTTTGTTTAAACATACCTCCAGCTCTTTAAAAATAAAAGGCACTTTAATTGCCTAATTCCGGGAGGAGCTGAGAGCAGTTGTTGATGGCCGTGAAAAAACGGAGCCCCACACTGCAAGAGGCTGAGCAGCATCGTTTTCTCCAGGGTGAGCAGACCGCTCCTGGGTGAGATGGGCCTGGCAGCATTTTACGGCCTTCTCCTGAATGGTGGCCCAGCTCTGCCTGGCTGGTCTGGTGATGGGAACTGTCATTGCTCAGCTGACACCACCATCTCCCCAGTTCCACGTTGAACAGGATGCACGGCCATAGGAGTCAAAAGGCCTTCATTGCTGATGTGAAATTCAAGTTAGCTGGGCATGGCTGGTCCTGGGGCCCTGGGACACAGATGATTAGCTCCCAGGAAGCCACCTGAGTGGAGGATCAGCTGGCCATGATAGACAGAAACGTGCCCGAAACACGTGTTGGTGGTGGATGCCCACTTGGGGCGACCTTGTGCTGCTCACCCGTTCTTTCTTTCCCTCCAGGCGAAGTCCGCCTCGTCAGTTTGCACATCCAGGCTCTGGTGGACGCTGGTGTTCCAGCCCGTGACATTGCTGTGGTCTCGCCATACAACCTCCAGGTACGAGGGTTTCCTTTTGTCCCTCTACAGAGCAGCTGGGGCTCACACAACCTAGAGGGTGAAAGAAAAAGGGTGATTTGTTGGCTGTGGTGACCGAAAAGTTCAGGGGTAGGGCTGACCTTATTGTGACTGGATCCAGGGCCCAAATGATGTCGTCAGGGGCCCCTCTGCGTGTTCGTCTGCCCGCCCCACCTTGCCCCGCCCTGCCCGGTGCCCCAGCCTTCTGCACTGGCTTGTGTTCTGGCCAGATTTGCTGGGTGACCCCGGCAGCCTCAGGCTGACACAGTCCTTCCACGGGCAGCCCTGGCGGAACAGCCTGTCCTTTTCTGGCATTTCCCACAGGAGTCTCAGCCTTGAGCCTTGCTGGTCTGGCTCAGGTCGTGTTCCCATGCGTATCTCATTTGGTAGGAAAAATGTACCTTCTGGAGTATCGGGAGGATCTGTGGAAGTGGCCATCATACCTTCCTGGTGTGCAGGCATCACACATAGGGCTGTCTGAGGCTGGCGGCTGTCATAAGCCAAAAGAAATGATCAAATGCCAGGGACAGGGTGTGGTATTGGCGTGCATGCGTGCCCGTGAGGAGGGCGAACGGGAAGCCTTTCCCCATGGGGCTCCTGCAGGCTCCGCTTCCCAGGTCCTGGCTGTTTCACAGCGTGAGGCCCTCTGCTGAGCTGAAGGGCAGGGTCTTGCTGCGCTGGCATGGGTGGGTGAGGAAACCACAGCCCGGCTGGTGTTTCAGGTGGACCTGCTCAGACAGAGCCTTGTGCACAGGCACCCTGAGCTTGAAATCAAGTCTGTCGATGGCTTCCAAGGCCGAGAGAAGGAGGCCGTGATACTGTCCTTCGTCAGATCCAACAGGAAAGGTACGGAGCCCTCGCCAGAGTCCTTTGGGGACAGCACAGAAGTGAATTTATTGATTGAGGGGCATATTGGGTGTCTGCTGGGTGCCACACTGGTTTCTGGCAGTGTGCTCATGGTGCACCTTCTGTCCTTAGTAAGTTCACGTCAGGCAAAGCACAGGCAAGAGAGTCTGCAGAGGCTCAGAGGCGTGAGTGTGCTGTCAGGGAGCAGGTGGCTGGGGTGGCAGCTGGGGGCGCAGGGTGGGCTGGGAATGATCAGGACATCCTGCCGAGGAGGTGAAGCCCCCTGCAGCCCAGAGCTGGCCTTTAGCCTCCATGCACGGAGCCGCGGGGTGTGGTGGTCGTGGCTGTGGTTTCTGTGCTGCTGTGGTGTGTGGGCTTTCCCATTTGGGATGAGCATTGTTCCCAGAAGCAGGTTTAGTGAACGGGCTTTGTGAGACATTCTCAGAAGGCAGAAAGCAGGTGAGGCCTGGCTAGAAGC
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Task1_train_16221
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A change on Chromosome 11 affects gene IGHMBP2 (immunoglobulin mu DNA binding protein 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Charcot-Marie-Tooth disease axonal type 2S
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AGCCTTTGGGTGGAGGAAGTTTGGAACTGTGCCCTTGAGCAGGGACCCTGTTGTGTAGGAGGGAGTAGGATGGTTTCGGGGGAAGACGTTGGGTGGCGTTCCCTGCAGAGAGTAGGATGGTTTTGGGGGAAGACGTTGGGTGGCGTTCCCTGGAGAGAGTAGGATGGTTTTGGGGGAAGACGTTGGGTGGTGTTCCCTGGAGAGAGTAGGATGGTTTCGGGGAAAACATTGGGTGGCATTCCCTGGAGACAGTAGGATGGTTTCGGGGAAAACATTGGGTGGCGTTCCCTGGAGAGAGTAGGATGGTTTCGGGGGAAGACGTTGGGTGGCATTCCCTGGAGAGAGTAGAATGGTTTCGGGGGAAGACGTTGGGTGGCGTTCCCTGCAGAGAGTAGGATGGTTTTTGGGGGAGGACGTTGGGTGACGTTGCGCTGAGTGTTTTGGGTTTGCAGTTGGTACTGATCATCGCGTCCTGTCCTCATTTTGTTGGAATTAAAAATACGTTAATCACAGAGGTCTGGTAAGTTTCCAGAGGGAAGGTCTCTGAAGTGGAGCTGGGTACTGCCCCAGGGTTTTGGTGGGGTTGGTGAGCCGTAGTGGTGCAGAGGGTGGGCTCTGGCACCAGGTGGCCCGGGCAGGTCCTGGCTCTGCAGCTCACCCGGGCAGCTGTGGGCTGGCAGCCTCCTCTGTCTCACCCTTCTTACATGTAATATGGGAGTCATAACAGTAGCCACCTCATGAGGTTGTTATAAGGATGAAGGGAGTTAATCCACATCTGGCACACCCAGCAGTGCCTGGCGCCTGGGCAGTGCTCAGCCGCTGCAGCCGTTCTTGGTGGGAGTGGACTTGACTGCTCACAGTTGGAGCATGTTGGAGTGTGTTCGTTCCCTGTTATGGCTGTGACAAATGACCACAAGCTTAGTGGCTGACAACAACAGATTTTCTGACCTCCAGAAACGACAATCTGGGGGTCAGATGTCCAAAATCAGACTCACCGGCTTAAAATCAAGGTGTGGGTGGGGTTGCTTCTTCTGGAGGATCCAGGGGAAAACCCATCTCCTGGTCTTTTCCGGCTCCTAGAGGCCACTGCTTGACTTGTTGCCCTTTCCTCTGTCTATGAAGCCAGCCGTGTTACGTCTTCAAATCTCTCCCCTCGGTGACCTTCTCTGACTGACCCTCGCATGCCCCCTTATAAGACCCTTGGGTTATCACCTGGGTCATCCAGGGTCGCCTCCCCATCCCAGGATCCTTAACTTCATCTCAGCTGCAGCGTCCCTGTTGTCCTGTAAGGGAACATTCACGGGCCTTGGCGATTGGATGTAGGTGCCTTTGGGGCTGTGATTCAGCCAAACCCGCCCCTTGGTTACTTCTGGGTCAGAATCCAGGGGAGAGTTGGGTCCTGAGGTTTGGGGCCTGTCCTCCTCACTTGCTGTGGTTCACACCTGGACTCTGGGGCTCAGGCCTGCCTTCCCCCTTTCTCCCTCCTGGGCGCAGGGCTGCGCTGGCAGGACTGTCACTCAGCCTGATGGAACGCCTGGCTGAGGAGTACGGCGCGAGGGTGGTGCGGACACTGACGGTGCAGTACCGCATGCACCAGGCTATCATGCGCTGGGCCTCAGACACCATGTACCTTGGGCAGCTCACAGCCCACTCTTCCGTGGCAAGGCACCTCCTGAGGTGAGTAGCTCGGCACCACCCGCCGCCCCATCCTTCTGCCCTGGCTAATCCTCTGCGTCACCTGTTTCTACGCAGCAAGCTAAAGTGAAGCTTTCTGCATGAAAGTCGACTCTGAGGCTAGCTTTTTGGAAGAGAGGGTGGCCTTGCCCTGGAGAGCTGGGTCAGGCCCGCTCCCTCCCTTCTGATGTCCTGATGTGCTCATTGTCCTCCCCTACCTAAGCCTTTTCCTCGTGGGAGGGGTCGGTTCTGTTGGGTGGGGCCTCAGTGCTGCACTGTGGCCCCCTGATGTGCTCCCTCTCTGCCTGTGTGCCAGGGACCTCCCAGGTGTGGCTGCCACAGAAGAGACGGGTGTGCCCCTGCTCTTGGTGGACACCGCCGGCTGCGGGCTGTTTGAGCTGGAGGAGGAGGACGAACAGTCGAAAGGGAACCCTGGTGAGCTTGCTTGCAGATGGCCAGCTTTTTTGTTTAAACATACCTCCAGCTCTTTAAAAATAAAAGGCACTTTAATTGCCTAATTCCGGGAGGAGCTGAGAGCAGTTGTTGATGGCCGTGAAAAAACGGAGCCCCACACTGCAAGAGGCTGAGCAGCATCGTTTTCTCCAGGGTGAGCAGACCGCTCCTGGGTGAGATGGGCCTGGCAGCATTTTACGGCCTTCTCCTGAATGGTGGCCCAGCTCTGCCTGGCTGGTCTGGTGATGGGAACTGTCATTGCTCAGCTGACACCACCATCTCCCCAGTTCCACGTTGAACAGGATGCACGGCCATAGGAGTCAAAAGGCCTTCATTGCTGATGTGAAATTCAAGTTAGCTGGGCATGGCTGGTCCTGGGGCCCTGGGACACAGATGATTAGCTCCCAGGAAGCCACCTGAGTGGAGGATCAGCTGGCCATGATAGACAGAAACGTGCCCGAAACACGTGTTGGTGGTGGATGCCCACTTGGGGCGACCTTGTGCTGCTCACCCGTTCTTTCTTTCCCTCCAGGCGAAGTCCGCCTCGTCAGTTTGCACATCCAGGCTCTGGTGGACGCTGGTGTTCCAGCCCGTGACATTGCTGTGGTCTCGCCATACAACCTCCAGGTACGAGGGTTTCCTTTTGTCCCTCTACAGAGCAGCTGGGGCTCACACAACCTAGAGGGTGAAAGAAAAAGGGTGATTTGTTGGCTGTGGTGACCGAAAAGTTCAGGGGTAGGGCTGACCTTATTGTGACTGGATCCAGGGCCCAAATGATGTCGTCAGGGGCCCCTCTGCGTGTTCGTCTGCCCGCCCCACCTTGCCCCGCCCTGCCCGGTGCCCCAGCCTTCTGCACTGGCTTGTGTTCTGGCCAGATTTGCTGGGTGACCCCGGCAGCCTCAGGCTGACACAGTCCTTCCACGGGCAGCCCTGGCGGAACAGCCTGTCCTTTTCTGGCATTTCCCACAGGAGTCTCAGCCTTGAGCCTTGCTGGTCTGGCTCAGGTCGTGTTCCCATGCGTATCTCATTTGGTAGGAAAAATGTACCTTCTGGAGTATCGGGAGGATCTGTGGAAGTGGCCATCATACCTTCCTGGTGTGCAGGCATCACACATAGGGCTGTCTGAGGCTGGCGGCTGTCATAAGCCAAAAGAAATGATCAAATGCCAGGGACAGGGTGTGGTATTGGCGTGCATGCGTGCCCGTGAGGAGGGCGAACGGGAAGCCTTTCCCCATGGGGCTCCTGCAGGCTCCGCTTCCCAGGTCCTGGCTGTTTCACAGCGTGAGGCCCTCTGCTGAGCTGAAGGGCAGGGTCTTGCTGCGCTGGCATGGGTGGGTGAGGAAACCACAGCCCGGCTGGTGTTTCAGGTGGACCTGCTCAGACAGAGCCTTGTGCACAGGCACCCTGAGCTTGAAATCAAGTCTGTCGATGGCTTCCAAGGCCGAGAGAAGGAGGCCGTGATACTGTCCTTCGTCAGATCCAACAGGAAAGGTACGGAGCCCTCGCCAGAGTCCTTTGGGGACAGCACAGAAGTGAATTTATTGATTGAGGGGCATATTGGGTGTCTGCTGGGTGCCACACTGGTTTCTGGCAGTGTGCTCATGGTGCACCTTCTGTCCTTAGTAAGTTCACGTCAGGCAAAGCACAGGCAAGAGAGTCTGCAGAGGCTCAGAGGCGTGAGTGTGCTGTCAGGGAGCAGGTGGCTGGGGTGGCAGCTGGGGGCGCAGGGTGGGCTGGGAATGATCAGGACATCCTGCCGAGGAGGTGAAGCCCCCTGCAGCCCAGAGCTGGCCTTTAGCCTCCATGCACGGAGCCGCGGGGTGTGGTGGTCGTGGCTGTGGTTTCTGTGCTGCTGTGGTGTGTGGGCTTTCCCATTTGGGATGAGCATTGTTCCCAGAAGCAGGTTTAGTGAACGGGCTTTGTGAGACATTCTCAGAAGGCAGAAAGCAGGTGAGGCCTGGCTAGAAGC
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AGCCTTTGGGTGGAGGAAGTTTGGAACTGTGCCCTTGAGCAGGGACCCTGTTGTGTAGGAGGGAGTAGGATGGTTTCGGGGGAAGACGTTGGGTGGCGTTCCCTGCAGAGAGTAGGATGGTTTTGGGGGAAGACGTTGGGTGGCGTTCCCTGGAGAGAGTAGGATGGTTTTGGGGGAAGACGTTGGGTGGTGTTCCCTGGAGAGAGTAGGATGGTTTCGGGGAAAACATTGGGTGGCATTCCCTGGAGACAGTAGGATGGTTTCGGGGAAAACATTGGGTGGCGTTCCCTGGAGAGAGTAGGATGGTTTCGGGGGAAGACGTTGGGTGGCATTCCCTGGAGAGAGTAGAATGGTTTCGGGGGAAGACGTTGGGTGGCGTTCCCTGCAGAGAGTAGGATGGTTTTTGGGGGAGGACGTTGGGTGACGTTGCGCTGAGTGTTTTGGGTTTGCAGTTGGTACTGATCATCGCGTCCTGTCCTCATTTTGTTGGAATTAAAAATACGTTAATCACAGAGGTCTGGTAAGTTTCCAGAGGGAAGGTCTCTGAAGTGGAGCTGGGTACTGCCCCAGGGTTTTGGTGGGGTTGGTGAGCCGTAGTGGTGCAGAGGGTGGGCTCTGGCACCAGGTGGCCCGGGCAGGTCCTGGCTCTGCAGCTCACCCGGGCAGCTGTGGGCTGGCAGCCTCCTCTGTCTCACCCTTCTTACATGTAATATGGGAGTCATAACAGTAGCCACCTCATGAGGTTGTTATAAGGATGAAGGGAGTTAATCCACATCTGGCACACCCAGCAGTGCCTGGCGCCTGGGCAGTGCTCAGCCGCTGCAGCCGTTCTTGGTGGGAGTGGACTTGACTGCTCACAGTTGGAGCATGTTGGAGTGTGTTCGTTCCCTGTTATGGCTGTGACAAATGACCACAAGCTTAGTGGCTGACAACAACAGATTTTCTGACCTCCAGAAACGACAATCTGGGGGTCAGATGTCCAAAATCAGACTCACCGGCTTAAAATCAAGGTGTGGGTGGGGTTGCTTCTTCTGGAGGATCCAGGGGAAAACCCATCTCCTGGTCTTTTCCGGCTCCTAGAGGCCACTGCTTGACTTGTTGCCCTTTCCTCTGTCTATGAAGCCAGCCGTGTTACGTCTTCAAATCTCTCCCCTCGGTGACCTTCTCTGACTGACCCTCGCATGCCCCCTTATAAGACCCTTGGGTTATCACCTGGGTCATCCAGGGTCGCCTCCCCATCCCAGGATCCTTAACTTCATCTCAGCTGCAGCGTCCCTGTTGTCCTGTAAGGGAACATTCACGGGCCTTGGCGATTGGATGTAGGTGCCTTTGGGGCTGTGATTCAGCCAAACCCGCCCCTTGGTTACTTCTGGGTCAGAATCCAGGGGAGAGTTGGGTCCTGAGGTTTGGGGCCTGTCCTCCTCACTTGCTGTGGTTCACACCTGGACTCTGGGGCTCAGGCCTGCCTTCCCCCTTTCTCCCTCCTGGGCGCAGGGCTGCGCTGGCAGGACTGTCACTCAGCCTGATGGAACGCCTGGCTGAGGAGTACGGCGCGAGGGTGGTGCGGACACTGACGGTGCAGTACCGCATGCACCAGGCTATCATGCGCTGGGCCTCAGACACCATGTACCTTGGGCAGCTCACAGCCCACTCTTCCGTGGCAAGGCACCTCCTGAGGTGAGTAGCTCGGCACCACCCGCCGCCCCATCCTTCTGCCCTGGCTAATCCTCTGCGTCACCTGTTTCTACGCAGCAAGCTAAAGTGAAGCTTTCTGCATGAAAGTCGACTCTGAGGCTAGCTTTTTGGAAGAGAGGGTGGCCTTGCCCTGGAGAGCTGGGTCAGGCCCGCTCCCTCCCTTCTGATGTCCTGATGTGCTCATTGTCCTCCCCTACCTAAGCCTTTTCCTCGTGGGAGGGGTCGGTTCTGTTGGGTGGGGCCTCAGTGCTGCACTGTGGCCCCCTGATGTGCTCCCTCTCTGCCTGTGTGCCAGGGACCTCCCAGGTGTGGCTGCCACAGAAGAGACGGGTGTGCCCCTGCTCTTGGTGGACGCCGCCGGCTGCGGGCTGTTTGAGCTGGAGGAGGAGGACGAACAGTCGAAAGGGAACCCTGGTGAGCTTGCTTGCAGATGGCCAGCTTTTTTGTTTAAACATACCTCCAGCTCTTTAAAAATAAAAGGCACTTTAATTGCCTAATTCCGGGAGGAGCTGAGAGCAGTTGTTGATGGCCGTGAAAAAACGGAGCCCCACACTGCAAGAGGCTGAGCAGCATCGTTTTCTCCAGGGTGAGCAGACCGCTCCTGGGTGAGATGGGCCTGGCAGCATTTTACGGCCTTCTCCTGAATGGTGGCCCAGCTCTGCCTGGCTGGTCTGGTGATGGGAACTGTCATTGCTCAGCTGACACCACCATCTCCCCAGTTCCACGTTGAACAGGATGCACGGCCATAGGAGTCAAAAGGCCTTCATTGCTGATGTGAAATTCAAGTTAGCTGGGCATGGCTGGTCCTGGGGCCCTGGGACACAGATGATTAGCTCCCAGGAAGCCACCTGAGTGGAGGATCAGCTGGCCATGATAGACAGAAACGTGCCCGAAACACGTGTTGGTGGTGGATGCCCACTTGGGGCGACCTTGTGCTGCTCACCCGTTCTTTCTTTCCCTCCAGGCGAAGTCCGCCTCGTCAGTTTGCACATCCAGGCTCTGGTGGACGCTGGTGTTCCAGCCCGTGACATTGCTGTGGTCTCGCCATACAACCTCCAGGTACGAGGGTTTCCTTTTGTCCCTCTACAGAGCAGCTGGGGCTCACACAACCTAGAGGGTGAAAGAAAAAGGGTGATTTGTTGGCTGTGGTGACCGAAAAGTTCAGGGGTAGGGCTGACCTTATTGTGACTGGATCCAGGGCCCAAATGATGTCGTCAGGGGCCCCTCTGCGTGTTCGTCTGCCCGCCCCACCTTGCCCCGCCCTGCCCGGTGCCCCAGCCTTCTGCACTGGCTTGTGTTCTGGCCAGATTTGCTGGGTGACCCCGGCAGCCTCAGGCTGACACAGTCCTTCCACGGGCAGCCCTGGCGGAACAGCCTGTCCTTTTCTGGCATTTCCCACAGGAGTCTCAGCCTTGAGCCTTGCTGGTCTGGCTCAGGTCGTGTTCCCATGCGTATCTCATTTGGTAGGAAAAATGTACCTTCTGGAGTATCGGGAGGATCTGTGGAAGTGGCCATCATACCTTCCTGGTGTGCAGGCATCACACATAGGGCTGTCTGAGGCTGGCGGCTGTCATAAGCCAAAAGAAATGATCAAATGCCAGGGACAGGGTGTGGTATTGGCGTGCATGCGTGCCCGTGAGGAGGGCGAACGGGAAGCCTTTCCCCATGGGGCTCCTGCAGGCTCCGCTTCCCAGGTCCTGGCTGTTTCACAGCGTGAGGCCCTCTGCTGAGCTGAAGGGCAGGGTCTTGCTGCGCTGGCATGGGTGGGTGAGGAAACCACAGCCCGGCTGGTGTTTCAGGTGGACCTGCTCAGACAGAGCCTTGTGCACAGGCACCCTGAGCTTGAAATCAAGTCTGTCGATGGCTTCCAAGGCCGAGAGAAGGAGGCCGTGATACTGTCCTTCGTCAGATCCAACAGGAAAGGTACGGAGCCCTCGCCAGAGTCCTTTGGGGACAGCACAGAAGTGAATTTATTGATTGAGGGGCATATTGGGTGTCTGCTGGGTGCCACACTGGTTTCTGGCAGTGTGCTCATGGTGCACCTTCTGTCCTTAGTAAGTTCACGTCAGGCAAAGCACAGGCAAGAGAGTCTGCAGAGGCTCAGAGGCGTGAGTGTGCTGTCAGGGAGCAGGTGGCTGGGGTGGCAGCTGGGGGCGCAGGGTGGGCTGGGAATGATCAGGACATCCTGCCGAGGAGGTGAAGCCCCCTGCAGCCCAGAGCTGGCCTTTAGCCTCCATGCACGGAGCCGCGGGGTGTGGTGGTCGTGGCTGTGGTTTCTGTGCTGCTGTGGTGTGTGGGCTTTCCCATTTGGGATGAGCATTGTTCCCAGAAGCAGGTTTAGTGAACGGGCTTTGTGAGACATTCTCAGAAGGCAGAAAGCAGGTGAGGCCTGGCTAGAAGC
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Task1_train_16222
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A variant affecting Chromosome 11, within the gene LOC126861245, IGHMBP2 (CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:68701479-68702678| immunoglobulin mu DNA binding protein 2), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Inborn genetic diseases
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CTCTGGCACCAGGTGGCCCGGGCAGGTCCTGGCTCTGCAGCTCACCCGGGCAGCTGTGGGCTGGCAGCCTCCTCTGTCTCACCCTTCTTACATGTAATATGGGAGTCATAACAGTAGCCACCTCATGAGGTTGTTATAAGGATGAAGGGAGTTAATCCACATCTGGCACACCCAGCAGTGCCTGGCGCCTGGGCAGTGCTCAGCCGCTGCAGCCGTTCTTGGTGGGAGTGGACTTGACTGCTCACAGTTGGAGCATGTTGGAGTGTGTTCGTTCCCTGTTATGGCTGTGACAAATGACCACAAGCTTAGTGGCTGACAACAACAGATTTTCTGACCTCCAGAAACGACAATCTGGGGGTCAGATGTCCAAAATCAGACTCACCGGCTTAAAATCAAGGTGTGGGTGGGGTTGCTTCTTCTGGAGGATCCAGGGGAAAACCCATCTCCTGGTCTTTTCCGGCTCCTAGAGGCCACTGCTTGACTTGTTGCCCTTTCCTCTGTCTATGAAGCCAGCCGTGTTACGTCTTCAAATCTCTCCCCTCGGTGACCTTCTCTGACTGACCCTCGCATGCCCCCTTATAAGACCCTTGGGTTATCACCTGGGTCATCCAGGGTCGCCTCCCCATCCCAGGATCCTTAACTTCATCTCAGCTGCAGCGTCCCTGTTGTCCTGTAAGGGAACATTCACGGGCCTTGGCGATTGGATGTAGGTGCCTTTGGGGCTGTGATTCAGCCAAACCCGCCCCTTGGTTACTTCTGGGTCAGAATCCAGGGGAGAGTTGGGTCCTGAGGTTTGGGGCCTGTCCTCCTCACTTGCTGTGGTTCACACCTGGACTCTGGGGCTCAGGCCTGCCTTCCCCCTTTCTCCCTCCTGGGCGCAGGGCTGCGCTGGCAGGACTGTCACTCAGCCTGATGGAACGCCTGGCTGAGGAGTACGGCGCGAGGGTGGTGCGGACACTGACGGTGCAGTACCGCATGCACCAGGCTATCATGCGCTGGGCCTCAGACACCATGTACCTTGGGCAGCTCACAGCCCACTCTTCCGTGGCAAGGCACCTCCTGAGGTGAGTAGCTCGGCACCACCCGCCGCCCCATCCTTCTGCCCTGGCTAATCCTCTGCGTCACCTGTTTCTACGCAGCAAGCTAAAGTGAAGCTTTCTGCATGAAAGTCGACTCTGAGGCTAGCTTTTTGGAAGAGAGGGTGGCCTTGCCCTGGAGAGCTGGGTCAGGCCCGCTCCCTCCCTTCTGATGTCCTGATGTGCTCATTGTCCTCCCCTACCTAAGCCTTTTCCTCGTGGGAGGGGTCGGTTCTGTTGGGTGGGGCCTCAGTGCTGCACTGTGGCCCCCTGATGTGCTCCCTCTCTGCCTGTGTGCCAGGGACCTCCCAGGTGTGGCTGCCACAGAAGAGACGGGTGTGCCCCTGCTCTTGGTGGACACCGCCGGCTGCGGGCTGTTTGAGCTGGAGGAGGAGGACGAACAGTCGAAAGGGAACCCTGGTGAGCTTGCTTGCAGATGGCCAGCTTTTTTGTTTAAACATACCTCCAGCTCTTTAAAAATAAAAGGCACTTTAATTGCCTAATTCCGGGAGGAGCTGAGAGCAGTTGTTGATGGCCGTGAAAAAACGGAGCCCCACACTGCAAGAGGCTGAGCAGCATCGTTTTCTCCAGGGTGAGCAGACCGCTCCTGGGTGAGATGGGCCTGGCAGCATTTTACGGCCTTCTCCTGAATGGTGGCCCAGCTCTGCCTGGCTGGTCTGGTGATGGGAACTGTCATTGCTCAGCTGACACCACCATCTCCCCAGTTCCACGTTGAACAGGATGCACGGCCATAGGAGTCAAAAGGCCTTCATTGCTGATGTGAAATTCAAGTTAGCTGGGCATGGCTGGTCCTGGGGCCCTGGGACACAGATGATTAGCTCCCAGGAAGCCACCTGAGTGGAGGATCAGCTGGCCATGATAGACAGAAACGTGCCCGAAACACGTGTTGGTGGTGGATGCCCACTTGGGGCGACCTTGTGCTGCTCACCCGTTCTTTCTTTCCCTCCAGGCGAAGTCCGCCTCGTCAGTTTGCACATCCAGGCTCTGGTGGACGCTGGTGTTCCAGCCCGTGACATTGCTGTGGTCTCGCCATACAACCTCCAGGTACGAGGGTTTCCTTTTGTCCCTCTACAGAGCAGCTGGGGCTCACACAACCTAGAGGGTGAAAGAAAAAGGGTGATTTGTTGGCTGTGGTGACCGAAAAGTTCAGGGGTAGGGCTGACCTTATTGTGACTGGATCCAGGGCCCAAATGATGTCGTCAGGGGCCCCTCTGCGTGTTCGTCTGCCCGCCCCACCTTGCCCCGCCCTGCCCGGTGCCCCAGCCTTCTGCACTGGCTTGTGTTCTGGCCAGATTTGCTGGGTGACCCCGGCAGCCTCAGGCTGACACAGTCCTTCCACGGGCAGCCCTGGCGGAACAGCCTGTCCTTTTCTGGCATTTCCCACAGGAGTCTCAGCCTTGAGCCTTGCTGGTCTGGCTCAGGTCGTGTTCCCATGCGTATCTCATTTGGTAGGAAAAATGTACCTTCTGGAGTATCGGGAGGATCTGTGGAAGTGGCCATCATACCTTCCTGGTGTGCAGGCATCACACATAGGGCTGTCTGAGGCTGGCGGCTGTCATAAGCCAAAAGAAATGATCAAATGCCAGGGACAGGGTGTGGTATTGGCGTGCATGCGTGCCCGTGAGGAGGGCGAACGGGAAGCCTTTCCCCATGGGGCTCCTGCAGGCTCCGCTTCCCAGGTCCTGGCTGTTTCACAGCGTGAGGCCCTCTGCTGAGCTGAAGGGCAGGGTCTTGCTGCGCTGGCATGGGTGGGTGAGGAAACCACAGCCCGGCTGGTGTTTCAGGTGGACCTGCTCAGACAGAGCCTTGTGCACAGGCACCCTGAGCTTGAAATCAAGTCTGTCGATGGCTTCCAAGGCCGAGAGAAGGAGGCCGTGATACTGTCCTTCGTCAGATCCAACAGGAAAGGTACGGAGCCCTCGCCAGAGTCCTTTGGGGACAGCACAGAAGTGAATTTATTGATTGAGGGGCATATTGGGTGTCTGCTGGGTGCCACACTGGTTTCTGGCAGTGTGCTCATGGTGCACCTTCTGTCCTTAGTAAGTTCACGTCAGGCAAAGCACAGGCAAGAGAGTCTGCAGAGGCTCAGAGGCGTGAGTGTGCTGTCAGGGAGCAGGTGGCTGGGGTGGCAGCTGGGGGCGCAGGGTGGGCTGGGAATGATCAGGACATCCTGCCGAGGAGGTGAAGCCCCCTGCAGCCCAGAGCTGGCCTTTAGCCTCCATGCACGGAGCCGCGGGGTGTGGTGGTCGTGGCTGTGGTTTCTGTGCTGCTGTGGTGTGTGGGCTTTCCCATTTGGGATGAGCATTGTTCCCAGAAGCAGGTTTAGTGAACGGGCTTTGTGAGACATTCTCAGAAGGCAGAAAGCAGGTGAGGCCTGGCTAGAAGCTATGGGGGAAAGAAGGGAAGGTCCTGGAAGGTTTCTTGTGCTTTCTCCCTGGTGCCAGCTGCAGCCACACCCCAGGCGGCCCCTGAGGCTGGGCTTAGAAGGAAAGGAGCGACAGAACCCAGTCGGGTTCCCCAGAGCCCCACTCAGTCAGCCGTGGCAGCCAGATGCCAGGGCAGGTGTGGCATCACGGTGCCACGCGTGGCCGGGCACCCGTGTGGATGGTGGGCCACGCGCAGGGGACTACACTTTTGGTGGTGGTTACTGATAAGGGCGTAGGAGCCTGACTGTGTTTCTTAGTCTGAAACCTGCTTCTCACTCCCCTCTGGCCTTTTGTAGGTGAAGTTGGTTTTCTTGCTGAGGACCGGAGGATCAACGTGGCTGTCACCCGTGCCCGACGCCACGTGGCGGTCATCTGTGACTCCCGTACTGTCAACAACCATGCATTTTTGAAGACCCTGGTGGAGTATTTCACACAGCATGGGGAAGTACGCACGGCCTTTGAGTATCTTGACGATATTGTCCCAGAAAACTATTCCCATGAGAACTCCCAGGGTTCCAGCCACGCTGCCACCAAGCCCCAGGGACCTGCTACGTCCACCAGGACCGGAAGCCA
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CTCTGGCACCAGGTGGCCCGGGCAGGTCCTGGCTCTGCAGCTCACCCGGGCAGCTGTGGGCTGGCAGCCTCCTCTGTCTCACCCTTCTTACATGTAATATGGGAGTCATAACAGTAGCCACCTCATGAGGTTGTTATAAGGATGAAGGGAGTTAATCCACATCTGGCACACCCAGCAGTGCCTGGCGCCTGGGCAGTGCTCAGCCGCTGCAGCCGTTCTTGGTGGGAGTGGACTTGACTGCTCACAGTTGGAGCATGTTGGAGTGTGTTCGTTCCCTGTTATGGCTGTGACAAATGACCACAAGCTTAGTGGCTGACAACAACAGATTTTCTGACCTCCAGAAACGACAATCTGGGGGTCAGATGTCCAAAATCAGACTCACCGGCTTAAAATCAAGGTGTGGGTGGGGTTGCTTCTTCTGGAGGATCCAGGGGAAAACCCATCTCCTGGTCTTTTCCGGCTCCTAGAGGCCACTGCTTGACTTGTTGCCCTTTCCTCTGTCTATGAAGCCAGCCGTGTTACGTCTTCAAATCTCTCCCCTCGGTGACCTTCTCTGACTGACCCTCGCATGCCCCCTTATAAGACCCTTGGGTTATCACCTGGGTCATCCAGGGTCGCCTCCCCATCCCAGGATCCTTAACTTCATCTCAGCTGCAGCGTCCCTGTTGTCCTGTAAGGGAACATTCACGGGCCTTGGCGATTGGATGTAGGTGCCTTTGGGGCTGTGATTCAGCCAAACCCGCCCCTTGGTTACTTCTGGGTCAGAATCCAGGGGAGAGTTGGGTCCTGAGGTTTGGGGCCTGTCCTCCTCACTTGCTGTGGTTCACACCTGGACTCTGGGGCTCAGGCCTGCCTTCCCCCTTTCTCCCTCCTGGGCGCAGGGCTGCGCTGGCAGGACTGTCACTCAGCCTGATGGAACGCCTGGCTGAGGAGTACGGCGCGAGGGTGGTGCGGACACTGACGGTGCAGTACCGCATGCACCAGGCTATCATGCGCTGGGCCTCAGACACCATGTACCTTGGGCAGCTCACAGCCCACTCTTCCGTGGCAAGGCACCTCCTGAGGTGAGTAGCTCGGCACCACCCGCCGCCCCATCCTTCTGCCCTGGCTAATCCTCTGCGTCACCTGTTTCTACGCAGCAAGCTAAAGTGAAGCTTTCTGCATGAAAGTCGACTCTGAGGCTAGCTTTTTGGAAGAGAGGGTGGCCTTGCCCTGGAGAGCTGGGTCAGGCCCGCTCCCTCCCTTCTGATGTCCTGATGTGCTCATTGTCCTCCCCTACCTAAGCCTTTTCCTCGTGGGAGGGGTCGGTTCTGTTGGGTGGGGCCTCAGTGCTGCACTGTGGCCCCCTGATGTGCTCCCTCTCTGCCTGTGTGCCAGGGACCTCCCAGGTGTGGCTGCCACAGAAGAGACGGGTGTGCCCCTGCTCTTGGTGGACACCGCCGGCTGCGGGCTGTTTGAGCTGGAGGAGGAGGACGAACAGTCGAAAGGGAACCCTGGTGAGCTTGCTTGCAGATGGCCAGCTTTTTTGTTTAAACATACCTCCAGCTCTTTAAAAATAAAAGGCACTTTAATTGCCTAATTCCGGGAGGAGCTGAGAGCAGTTGTTGATGGCCGTGAAAAAACGGAGCCCCACACTGCAAGAGGCTGAGCAGCATCGTTTTCTCCAGGGTGAGCAGACCGCTCCTGGGTGAGATGGGCCTGGCAGCATTTTACGGCCTTCTCCTGAATGGTGGCCCAGCTCTGCCTGGCTGGTCTGGTGATGGGAACTGTCATTGCTCAGCTGACACCACCATCTCCCCAGTTCCACGTTGAACAGGATGCACGGCCATAGGAGTCAAAAGGCCTTCATTGCTGATGTGAAATTCAAGTTAGCTGGGCATGGCTGGTCCTGGGGCCCTGGGACACAGATGATTAGCTCCCAGGAAGCCACCTGAGTGGAGGATCAGCTGGCCATGATAGACAGAAACGTGCCCGAAACACGTGTTGGTGGTGGATGCCCACTTGGGGCGACCTTGTGCTGCTCACCCGTTCTTTCTTTCCCTCCAGGCAAAGTCCGCCTCGTCAGTTTGCACATCCAGGCTCTGGTGGACGCTGGTGTTCCAGCCCGTGACATTGCTGTGGTCTCGCCATACAACCTCCAGGTACGAGGGTTTCCTTTTGTCCCTCTACAGAGCAGCTGGGGCTCACACAACCTAGAGGGTGAAAGAAAAAGGGTGATTTGTTGGCTGTGGTGACCGAAAAGTTCAGGGGTAGGGCTGACCTTATTGTGACTGGATCCAGGGCCCAAATGATGTCGTCAGGGGCCCCTCTGCGTGTTCGTCTGCCCGCCCCACCTTGCCCCGCCCTGCCCGGTGCCCCAGCCTTCTGCACTGGCTTGTGTTCTGGCCAGATTTGCTGGGTGACCCCGGCAGCCTCAGGCTGACACAGTCCTTCCACGGGCAGCCCTGGCGGAACAGCCTGTCCTTTTCTGGCATTTCCCACAGGAGTCTCAGCCTTGAGCCTTGCTGGTCTGGCTCAGGTCGTGTTCCCATGCGTATCTCATTTGGTAGGAAAAATGTACCTTCTGGAGTATCGGGAGGATCTGTGGAAGTGGCCATCATACCTTCCTGGTGTGCAGGCATCACACATAGGGCTGTCTGAGGCTGGCGGCTGTCATAAGCCAAAAGAAATGATCAAATGCCAGGGACAGGGTGTGGTATTGGCGTGCATGCGTGCCCGTGAGGAGGGCGAACGGGAAGCCTTTCCCCATGGGGCTCCTGCAGGCTCCGCTTCCCAGGTCCTGGCTGTTTCACAGCGTGAGGCCCTCTGCTGAGCTGAAGGGCAGGGTCTTGCTGCGCTGGCATGGGTGGGTGAGGAAACCACAGCCCGGCTGGTGTTTCAGGTGGACCTGCTCAGACAGAGCCTTGTGCACAGGCACCCTGAGCTTGAAATCAAGTCTGTCGATGGCTTCCAAGGCCGAGAGAAGGAGGCCGTGATACTGTCCTTCGTCAGATCCAACAGGAAAGGTACGGAGCCCTCGCCAGAGTCCTTTGGGGACAGCACAGAAGTGAATTTATTGATTGAGGGGCATATTGGGTGTCTGCTGGGTGCCACACTGGTTTCTGGCAGTGTGCTCATGGTGCACCTTCTGTCCTTAGTAAGTTCACGTCAGGCAAAGCACAGGCAAGAGAGTCTGCAGAGGCTCAGAGGCGTGAGTGTGCTGTCAGGGAGCAGGTGGCTGGGGTGGCAGCTGGGGGCGCAGGGTGGGCTGGGAATGATCAGGACATCCTGCCGAGGAGGTGAAGCCCCCTGCAGCCCAGAGCTGGCCTTTAGCCTCCATGCACGGAGCCGCGGGGTGTGGTGGTCGTGGCTGTGGTTTCTGTGCTGCTGTGGTGTGTGGGCTTTCCCATTTGGGATGAGCATTGTTCCCAGAAGCAGGTTTAGTGAACGGGCTTTGTGAGACATTCTCAGAAGGCAGAAAGCAGGTGAGGCCTGGCTAGAAGCTATGGGGGAAAGAAGGGAAGGTCCTGGAAGGTTTCTTGTGCTTTCTCCCTGGTGCCAGCTGCAGCCACACCCCAGGCGGCCCCTGAGGCTGGGCTTAGAAGGAAAGGAGCGACAGAACCCAGTCGGGTTCCCCAGAGCCCCACTCAGTCAGCCGTGGCAGCCAGATGCCAGGGCAGGTGTGGCATCACGGTGCCACGCGTGGCCGGGCACCCGTGTGGATGGTGGGCCACGCGCAGGGGACTACACTTTTGGTGGTGGTTACTGATAAGGGCGTAGGAGCCTGACTGTGTTTCTTAGTCTGAAACCTGCTTCTCACTCCCCTCTGGCCTTTTGTAGGTGAAGTTGGTTTTCTTGCTGAGGACCGGAGGATCAACGTGGCTGTCACCCGTGCCCGACGCCACGTGGCGGTCATCTGTGACTCCCGTACTGTCAACAACCATGCATTTTTGAAGACCCTGGTGGAGTATTTCACACAGCATGGGGAAGTACGCACGGCCTTTGAGTATCTTGACGATATTGTCCCAGAAAACTATTCCCATGAGAACTCCCAGGGTTCCAGCCACGCTGCCACCAAGCCCCAGGGACCTGCTACGTCCACCAGGACCGGAAGCCA
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Task1_train_16223
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Gene LOC126861245, IGHMBP2 (CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:68701479-68702678| immunoglobulin mu DNA binding protein 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; Autosomal recessive distal spinal muscular atrophy 1
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CTCTGGCACCAGGTGGCCCGGGCAGGTCCTGGCTCTGCAGCTCACCCGGGCAGCTGTGGGCTGGCAGCCTCCTCTGTCTCACCCTTCTTACATGTAATATGGGAGTCATAACAGTAGCCACCTCATGAGGTTGTTATAAGGATGAAGGGAGTTAATCCACATCTGGCACACCCAGCAGTGCCTGGCGCCTGGGCAGTGCTCAGCCGCTGCAGCCGTTCTTGGTGGGAGTGGACTTGACTGCTCACAGTTGGAGCATGTTGGAGTGTGTTCGTTCCCTGTTATGGCTGTGACAAATGACCACAAGCTTAGTGGCTGACAACAACAGATTTTCTGACCTCCAGAAACGACAATCTGGGGGTCAGATGTCCAAAATCAGACTCACCGGCTTAAAATCAAGGTGTGGGTGGGGTTGCTTCTTCTGGAGGATCCAGGGGAAAACCCATCTCCTGGTCTTTTCCGGCTCCTAGAGGCCACTGCTTGACTTGTTGCCCTTTCCTCTGTCTATGAAGCCAGCCGTGTTACGTCTTCAAATCTCTCCCCTCGGTGACCTTCTCTGACTGACCCTCGCATGCCCCCTTATAAGACCCTTGGGTTATCACCTGGGTCATCCAGGGTCGCCTCCCCATCCCAGGATCCTTAACTTCATCTCAGCTGCAGCGTCCCTGTTGTCCTGTAAGGGAACATTCACGGGCCTTGGCGATTGGATGTAGGTGCCTTTGGGGCTGTGATTCAGCCAAACCCGCCCCTTGGTTACTTCTGGGTCAGAATCCAGGGGAGAGTTGGGTCCTGAGGTTTGGGGCCTGTCCTCCTCACTTGCTGTGGTTCACACCTGGACTCTGGGGCTCAGGCCTGCCTTCCCCCTTTCTCCCTCCTGGGCGCAGGGCTGCGCTGGCAGGACTGTCACTCAGCCTGATGGAACGCCTGGCTGAGGAGTACGGCGCGAGGGTGGTGCGGACACTGACGGTGCAGTACCGCATGCACCAGGCTATCATGCGCTGGGCCTCAGACACCATGTACCTTGGGCAGCTCACAGCCCACTCTTCCGTGGCAAGGCACCTCCTGAGGTGAGTAGCTCGGCACCACCCGCCGCCCCATCCTTCTGCCCTGGCTAATCCTCTGCGTCACCTGTTTCTACGCAGCAAGCTAAAGTGAAGCTTTCTGCATGAAAGTCGACTCTGAGGCTAGCTTTTTGGAAGAGAGGGTGGCCTTGCCCTGGAGAGCTGGGTCAGGCCCGCTCCCTCCCTTCTGATGTCCTGATGTGCTCATTGTCCTCCCCTACCTAAGCCTTTTCCTCGTGGGAGGGGTCGGTTCTGTTGGGTGGGGCCTCAGTGCTGCACTGTGGCCCCCTGATGTGCTCCCTCTCTGCCTGTGTGCCAGGGACCTCCCAGGTGTGGCTGCCACAGAAGAGACGGGTGTGCCCCTGCTCTTGGTGGACACCGCCGGCTGCGGGCTGTTTGAGCTGGAGGAGGAGGACGAACAGTCGAAAGGGAACCCTGGTGAGCTTGCTTGCAGATGGCCAGCTTTTTTGTTTAAACATACCTCCAGCTCTTTAAAAATAAAAGGCACTTTAATTGCCTAATTCCGGGAGGAGCTGAGAGCAGTTGTTGATGGCCGTGAAAAAACGGAGCCCCACACTGCAAGAGGCTGAGCAGCATCGTTTTCTCCAGGGTGAGCAGACCGCTCCTGGGTGAGATGGGCCTGGCAGCATTTTACGGCCTTCTCCTGAATGGTGGCCCAGCTCTGCCTGGCTGGTCTGGTGATGGGAACTGTCATTGCTCAGCTGACACCACCATCTCCCCAGTTCCACGTTGAACAGGATGCACGGCCATAGGAGTCAAAAGGCCTTCATTGCTGATGTGAAATTCAAGTTAGCTGGGCATGGCTGGTCCTGGGGCCCTGGGACACAGATGATTAGCTCCCAGGAAGCCACCTGAGTGGAGGATCAGCTGGCCATGATAGACAGAAACGTGCCCGAAACACGTGTTGGTGGTGGATGCCCACTTGGGGCGACCTTGTGCTGCTCACCCGTTCTTTCTTTCCCTCCAGGCGAAGTCCGCCTCGTCAGTTTGCACATCCAGGCTCTGGTGGACGCTGGTGTTCCAGCCCGTGACATTGCTGTGGTCTCGCCATACAACCTCCAGGTACGAGGGTTTCCTTTTGTCCCTCTACAGAGCAGCTGGGGCTCACACAACCTAGAGGGTGAAAGAAAAAGGGTGATTTGTTGGCTGTGGTGACCGAAAAGTTCAGGGGTAGGGCTGACCTTATTGTGACTGGATCCAGGGCCCAAATGATGTCGTCAGGGGCCCCTCTGCGTGTTCGTCTGCCCGCCCCACCTTGCCCCGCCCTGCCCGGTGCCCCAGCCTTCTGCACTGGCTTGTGTTCTGGCCAGATTTGCTGGGTGACCCCGGCAGCCTCAGGCTGACACAGTCCTTCCACGGGCAGCCCTGGCGGAACAGCCTGTCCTTTTCTGGCATTTCCCACAGGAGTCTCAGCCTTGAGCCTTGCTGGTCTGGCTCAGGTCGTGTTCCCATGCGTATCTCATTTGGTAGGAAAAATGTACCTTCTGGAGTATCGGGAGGATCTGTGGAAGTGGCCATCATACCTTCCTGGTGTGCAGGCATCACACATAGGGCTGTCTGAGGCTGGCGGCTGTCATAAGCCAAAAGAAATGATCAAATGCCAGGGACAGGGTGTGGTATTGGCGTGCATGCGTGCCCGTGAGGAGGGCGAACGGGAAGCCTTTCCCCATGGGGCTCCTGCAGGCTCCGCTTCCCAGGTCCTGGCTGTTTCACAGCGTGAGGCCCTCTGCTGAGCTGAAGGGCAGGGTCTTGCTGCGCTGGCATGGGTGGGTGAGGAAACCACAGCCCGGCTGGTGTTTCAGGTGGACCTGCTCAGACAGAGCCTTGTGCACAGGCACCCTGAGCTTGAAATCAAGTCTGTCGATGGCTTCCAAGGCCGAGAGAAGGAGGCCGTGATACTGTCCTTCGTCAGATCCAACAGGAAAGGTACGGAGCCCTCGCCAGAGTCCTTTGGGGACAGCACAGAAGTGAATTTATTGATTGAGGGGCATATTGGGTGTCTGCTGGGTGCCACACTGGTTTCTGGCAGTGTGCTCATGGTGCACCTTCTGTCCTTAGTAAGTTCACGTCAGGCAAAGCACAGGCAAGAGAGTCTGCAGAGGCTCAGAGGCGTGAGTGTGCTGTCAGGGAGCAGGTGGCTGGGGTGGCAGCTGGGGGCGCAGGGTGGGCTGGGAATGATCAGGACATCCTGCCGAGGAGGTGAAGCCCCCTGCAGCCCAGAGCTGGCCTTTAGCCTCCATGCACGGAGCCGCGGGGTGTGGTGGTCGTGGCTGTGGTTTCTGTGCTGCTGTGGTGTGTGGGCTTTCCCATTTGGGATGAGCATTGTTCCCAGAAGCAGGTTTAGTGAACGGGCTTTGTGAGACATTCTCAGAAGGCAGAAAGCAGGTGAGGCCTGGCTAGAAGCTATGGGGGAAAGAAGGGAAGGTCCTGGAAGGTTTCTTGTGCTTTCTCCCTGGTGCCAGCTGCAGCCACACCCCAGGCGGCCCCTGAGGCTGGGCTTAGAAGGAAAGGAGCGACAGAACCCAGTCGGGTTCCCCAGAGCCCCACTCAGTCAGCCGTGGCAGCCAGATGCCAGGGCAGGTGTGGCATCACGGTGCCACGCGTGGCCGGGCACCCGTGTGGATGGTGGGCCACGCGCAGGGGACTACACTTTTGGTGGTGGTTACTGATAAGGGCGTAGGAGCCTGACTGTGTTTCTTAGTCTGAAACCTGCTTCTCACTCCCCTCTGGCCTTTTGTAGGTGAAGTTGGTTTTCTTGCTGAGGACCGGAGGATCAACGTGGCTGTCACCCGTGCCCGACGCCACGTGGCGGTCATCTGTGACTCCCGTACTGTCAACAACCATGCATTTTTGAAGACCCTGGTGGAGTATTTCACACAGCATGGGGAAGTACGCACGGCCTTTGAGTATCTTGACGATATTGTCCCAGAAAACTATTCCCATGAGAACTCCCAGGGTTCCAGCCACGCTGCCACCAAGCCCCAGGGACCTGCTACGTCCACCAGGACCGGAAGCCA
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CTCTGGCACCAGGTGGCCCGGGCAGGTCCTGGCTCTGCAGCTCACCCGGGCAGCTGTGGGCTGGCAGCCTCCTCTGTCTCACCCTTCTTACATGTAATATGGGAGTCATAACAGTAGCCACCTCATGAGGTTGTTATAAGGATGAAGGGAGTTAATCCACATCTGGCACACCCAGCAGTGCCTGGCGCCTGGGCAGTGCTCAGCCGCTGCAGCCGTTCTTGGTGGGAGTGGACTTGACTGCTCACAGTTGGAGCATGTTGGAGTGTGTTCGTTCCCTGTTATGGCTGTGACAAATGACCACAAGCTTAGTGGCTGACAACAACAGATTTTCTGACCTCCAGAAACGACAATCTGGGGGTCAGATGTCCAAAATCAGACTCACCGGCTTAAAATCAAGGTGTGGGTGGGGTTGCTTCTTCTGGAGGATCCAGGGGAAAACCCATCTCCTGGTCTTTTCCGGCTCCTAGAGGCCACTGCTTGACTTGTTGCCCTTTCCTCTGTCTATGAAGCCAGCCGTGTTACGTCTTCAAATCTCTCCCCTCGGTGACCTTCTCTGACTGACCCTCGCATGCCCCCTTATAAGACCCTTGGGTTATCACCTGGGTCATCCAGGGTCGCCTCCCCATCCCAGGATCCTTAACTTCATCTCAGCTGCAGCGTCCCTGTTGTCCTGTAAGGGAACATTCACGGGCCTTGGCGATTGGATGTAGGTGCCTTTGGGGCTGTGATTCAGCCAAACCCGCCCCTTGGTTACTTCTGGGTCAGAATCCAGGGGAGAGTTGGGTCCTGAGGTTTGGGGCCTGTCCTCCTCACTTGCTGTGGTTCACACCTGGACTCTGGGGCTCAGGCCTGCCTTCCCCCTTTCTCCCTCCTGGGCGCAGGGCTGCGCTGGCAGGACTGTCACTCAGCCTGATGGAACGCCTGGCTGAGGAGTACGGCGCGAGGGTGGTGCGGACACTGACGGTGCAGTACCGCATGCACCAGGCTATCATGCGCTGGGCCTCAGACACCATGTACCTTGGGCAGCTCACAGCCCACTCTTCCGTGGCAAGGCACCTCCTGAGGTGAGTAGCTCGGCACCACCCGCCGCCCCATCCTTCTGCCCTGGCTAATCCTCTGCGTCACCTGTTTCTACGCAGCAAGCTAAAGTGAAGCTTTCTGCATGAAAGTCGACTCTGAGGCTAGCTTTTTGGAAGAGAGGGTGGCCTTGCCCTGGAGAGCTGGGTCAGGCCCGCTCCCTCCCTTCTGATGTCCTGATGTGCTCATTGTCCTCCCCTACCTAAGCCTTTTCCTCGTGGGAGGGGTCGGTTCTGTTGGGTGGGGCCTCAGTGCTGCACTGTGGCCCCCTGATGTGCTCCCTCTCTGCCTGTGTGCCAGGGACCTCCCAGGTGTGGCTGCCACAGAAGAGACGGGTGTGCCCCTGCTCTTGGTGGACACCGCCGGCTGCGGGCTGTTTGAGCTGGAGGAGGAGGACGAACAGTCGAAAGGGAACCCTGGTGAGCTTGCTTGCAGATGGCCAGCTTTTTTGTTTAAACATACCTCCAGCTCTTTAAAAATAAAAGGCACTTTAATTGCCTAATTCCGGGAGGAGCTGAGAGCAGTTGTTGATGGCCGTGAAAAAACGGAGCCCCACACTGCAAGAGGCTGAGCAGCATCGTTTTCTCCAGGGTGAGCAGACCGCTCCTGGGTGAGATGGGCCTGGCAGCATTTTACGGCCTTCTCCTGAATGGTGGCCCAGCTCTGCCTGGCTGGTCTGGTGATGGGAACTGTCATTGCTCAGCTGACACCACCATCTCCCCAGTTCCACGTTGAACAGGATGCACGGCCATAGGAGTCAAAAGGCCTTCATTGCTGATGTGAAATTCAAGTTAGCTGGGCATGGCTGGTCCTGGGGCCCTGGGACACAGATGATTAGCTCCCAGGAAGCCACCTGAGTGGAGGATCAGCTGGCCATGATAGACAGAAACGTGCCCGAAACACGTGTTGGTGGTGGATGCCCACTTGGGGCGACCTTGTGCTGCTCACCCGTTCTTTCTTTCCCTCCAGGCAAAGTCCGCCTCGTCAGTTTGCACATCCAGGCTCTGGTGGACGCTGGTGTTCCAGCCCGTGACATTGCTGTGGTCTCGCCATACAACCTCCAGGTACGAGGGTTTCCTTTTGTCCCTCTACAGAGCAGCTGGGGCTCACACAACCTAGAGGGTGAAAGAAAAAGGGTGATTTGTTGGCTGTGGTGACCGAAAAGTTCAGGGGTAGGGCTGACCTTATTGTGACTGGATCCAGGGCCCAAATGATGTCGTCAGGGGCCCCTCTGCGTGTTCGTCTGCCCGCCCCACCTTGCCCCGCCCTGCCCGGTGCCCCAGCCTTCTGCACTGGCTTGTGTTCTGGCCAGATTTGCTGGGTGACCCCGGCAGCCTCAGGCTGACACAGTCCTTCCACGGGCAGCCCTGGCGGAACAGCCTGTCCTTTTCTGGCATTTCCCACAGGAGTCTCAGCCTTGAGCCTTGCTGGTCTGGCTCAGGTCGTGTTCCCATGCGTATCTCATTTGGTAGGAAAAATGTACCTTCTGGAGTATCGGGAGGATCTGTGGAAGTGGCCATCATACCTTCCTGGTGTGCAGGCATCACACATAGGGCTGTCTGAGGCTGGCGGCTGTCATAAGCCAAAAGAAATGATCAAATGCCAGGGACAGGGTGTGGTATTGGCGTGCATGCGTGCCCGTGAGGAGGGCGAACGGGAAGCCTTTCCCCATGGGGCTCCTGCAGGCTCCGCTTCCCAGGTCCTGGCTGTTTCACAGCGTGAGGCCCTCTGCTGAGCTGAAGGGCAGGGTCTTGCTGCGCTGGCATGGGTGGGTGAGGAAACCACAGCCCGGCTGGTGTTTCAGGTGGACCTGCTCAGACAGAGCCTTGTGCACAGGCACCCTGAGCTTGAAATCAAGTCTGTCGATGGCTTCCAAGGCCGAGAGAAGGAGGCCGTGATACTGTCCTTCGTCAGATCCAACAGGAAAGGTACGGAGCCCTCGCCAGAGTCCTTTGGGGACAGCACAGAAGTGAATTTATTGATTGAGGGGCATATTGGGTGTCTGCTGGGTGCCACACTGGTTTCTGGCAGTGTGCTCATGGTGCACCTTCTGTCCTTAGTAAGTTCACGTCAGGCAAAGCACAGGCAAGAGAGTCTGCAGAGGCTCAGAGGCGTGAGTGTGCTGTCAGGGAGCAGGTGGCTGGGGTGGCAGCTGGGGGCGCAGGGTGGGCTGGGAATGATCAGGACATCCTGCCGAGGAGGTGAAGCCCCCTGCAGCCCAGAGCTGGCCTTTAGCCTCCATGCACGGAGCCGCGGGGTGTGGTGGTCGTGGCTGTGGTTTCTGTGCTGCTGTGGTGTGTGGGCTTTCCCATTTGGGATGAGCATTGTTCCCAGAAGCAGGTTTAGTGAACGGGCTTTGTGAGACATTCTCAGAAGGCAGAAAGCAGGTGAGGCCTGGCTAGAAGCTATGGGGGAAAGAAGGGAAGGTCCTGGAAGGTTTCTTGTGCTTTCTCCCTGGTGCCAGCTGCAGCCACACCCCAGGCGGCCCCTGAGGCTGGGCTTAGAAGGAAAGGAGCGACAGAACCCAGTCGGGTTCCCCAGAGCCCCACTCAGTCAGCCGTGGCAGCCAGATGCCAGGGCAGGTGTGGCATCACGGTGCCACGCGTGGCCGGGCACCCGTGTGGATGGTGGGCCACGCGCAGGGGACTACACTTTTGGTGGTGGTTACTGATAAGGGCGTAGGAGCCTGACTGTGTTTCTTAGTCTGAAACCTGCTTCTCACTCCCCTCTGGCCTTTTGTAGGTGAAGTTGGTTTTCTTGCTGAGGACCGGAGGATCAACGTGGCTGTCACCCGTGCCCGACGCCACGTGGCGGTCATCTGTGACTCCCGTACTGTCAACAACCATGCATTTTTGAAGACCCTGGTGGAGTATTTCACACAGCATGGGGAAGTACGCACGGCCTTTGAGTATCTTGACGATATTGTCCCAGAAAACTATTCCCATGAGAACTCCCAGGGTTCCAGCCACGCTGCCACCAAGCCCCAGGGACCTGCTACGTCCACCAGGACCGGAAGCCA
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Task1_train_16224
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Given this variant in gene LOC126861245, IGHMBP2 (CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:68701479-68702678| immunoglobulin mu DNA binding protein 2) on Chromosome 11, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Charcot-Marie-Tooth disease axonal type 2S
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CTCTGGCACCAGGTGGCCCGGGCAGGTCCTGGCTCTGCAGCTCACCCGGGCAGCTGTGGGCTGGCAGCCTCCTCTGTCTCACCCTTCTTACATGTAATATGGGAGTCATAACAGTAGCCACCTCATGAGGTTGTTATAAGGATGAAGGGAGTTAATCCACATCTGGCACACCCAGCAGTGCCTGGCGCCTGGGCAGTGCTCAGCCGCTGCAGCCGTTCTTGGTGGGAGTGGACTTGACTGCTCACAGTTGGAGCATGTTGGAGTGTGTTCGTTCCCTGTTATGGCTGTGACAAATGACCACAAGCTTAGTGGCTGACAACAACAGATTTTCTGACCTCCAGAAACGACAATCTGGGGGTCAGATGTCCAAAATCAGACTCACCGGCTTAAAATCAAGGTGTGGGTGGGGTTGCTTCTTCTGGAGGATCCAGGGGAAAACCCATCTCCTGGTCTTTTCCGGCTCCTAGAGGCCACTGCTTGACTTGTTGCCCTTTCCTCTGTCTATGAAGCCAGCCGTGTTACGTCTTCAAATCTCTCCCCTCGGTGACCTTCTCTGACTGACCCTCGCATGCCCCCTTATAAGACCCTTGGGTTATCACCTGGGTCATCCAGGGTCGCCTCCCCATCCCAGGATCCTTAACTTCATCTCAGCTGCAGCGTCCCTGTTGTCCTGTAAGGGAACATTCACGGGCCTTGGCGATTGGATGTAGGTGCCTTTGGGGCTGTGATTCAGCCAAACCCGCCCCTTGGTTACTTCTGGGTCAGAATCCAGGGGAGAGTTGGGTCCTGAGGTTTGGGGCCTGTCCTCCTCACTTGCTGTGGTTCACACCTGGACTCTGGGGCTCAGGCCTGCCTTCCCCCTTTCTCCCTCCTGGGCGCAGGGCTGCGCTGGCAGGACTGTCACTCAGCCTGATGGAACGCCTGGCTGAGGAGTACGGCGCGAGGGTGGTGCGGACACTGACGGTGCAGTACCGCATGCACCAGGCTATCATGCGCTGGGCCTCAGACACCATGTACCTTGGGCAGCTCACAGCCCACTCTTCCGTGGCAAGGCACCTCCTGAGGTGAGTAGCTCGGCACCACCCGCCGCCCCATCCTTCTGCCCTGGCTAATCCTCTGCGTCACCTGTTTCTACGCAGCAAGCTAAAGTGAAGCTTTCTGCATGAAAGTCGACTCTGAGGCTAGCTTTTTGGAAGAGAGGGTGGCCTTGCCCTGGAGAGCTGGGTCAGGCCCGCTCCCTCCCTTCTGATGTCCTGATGTGCTCATTGTCCTCCCCTACCTAAGCCTTTTCCTCGTGGGAGGGGTCGGTTCTGTTGGGTGGGGCCTCAGTGCTGCACTGTGGCCCCCTGATGTGCTCCCTCTCTGCCTGTGTGCCAGGGACCTCCCAGGTGTGGCTGCCACAGAAGAGACGGGTGTGCCCCTGCTCTTGGTGGACACCGCCGGCTGCGGGCTGTTTGAGCTGGAGGAGGAGGACGAACAGTCGAAAGGGAACCCTGGTGAGCTTGCTTGCAGATGGCCAGCTTTTTTGTTTAAACATACCTCCAGCTCTTTAAAAATAAAAGGCACTTTAATTGCCTAATTCCGGGAGGAGCTGAGAGCAGTTGTTGATGGCCGTGAAAAAACGGAGCCCCACACTGCAAGAGGCTGAGCAGCATCGTTTTCTCCAGGGTGAGCAGACCGCTCCTGGGTGAGATGGGCCTGGCAGCATTTTACGGCCTTCTCCTGAATGGTGGCCCAGCTCTGCCTGGCTGGTCTGGTGATGGGAACTGTCATTGCTCAGCTGACACCACCATCTCCCCAGTTCCACGTTGAACAGGATGCACGGCCATAGGAGTCAAAAGGCCTTCATTGCTGATGTGAAATTCAAGTTAGCTGGGCATGGCTGGTCCTGGGGCCCTGGGACACAGATGATTAGCTCCCAGGAAGCCACCTGAGTGGAGGATCAGCTGGCCATGATAGACAGAAACGTGCCCGAAACACGTGTTGGTGGTGGATGCCCACTTGGGGCGACCTTGTGCTGCTCACCCGTTCTTTCTTTCCCTCCAGGCGAAGTCCGCCTCGTCAGTTTGCACATCCAGGCTCTGGTGGACGCTGGTGTTCCAGCCCGTGACATTGCTGTGGTCTCGCCATACAACCTCCAGGTACGAGGGTTTCCTTTTGTCCCTCTACAGAGCAGCTGGGGCTCACACAACCTAGAGGGTGAAAGAAAAAGGGTGATTTGTTGGCTGTGGTGACCGAAAAGTTCAGGGGTAGGGCTGACCTTATTGTGACTGGATCCAGGGCCCAAATGATGTCGTCAGGGGCCCCTCTGCGTGTTCGTCTGCCCGCCCCACCTTGCCCCGCCCTGCCCGGTGCCCCAGCCTTCTGCACTGGCTTGTGTTCTGGCCAGATTTGCTGGGTGACCCCGGCAGCCTCAGGCTGACACAGTCCTTCCACGGGCAGCCCTGGCGGAACAGCCTGTCCTTTTCTGGCATTTCCCACAGGAGTCTCAGCCTTGAGCCTTGCTGGTCTGGCTCAGGTCGTGTTCCCATGCGTATCTCATTTGGTAGGAAAAATGTACCTTCTGGAGTATCGGGAGGATCTGTGGAAGTGGCCATCATACCTTCCTGGTGTGCAGGCATCACACATAGGGCTGTCTGAGGCTGGCGGCTGTCATAAGCCAAAAGAAATGATCAAATGCCAGGGACAGGGTGTGGTATTGGCGTGCATGCGTGCCCGTGAGGAGGGCGAACGGGAAGCCTTTCCCCATGGGGCTCCTGCAGGCTCCGCTTCCCAGGTCCTGGCTGTTTCACAGCGTGAGGCCCTCTGCTGAGCTGAAGGGCAGGGTCTTGCTGCGCTGGCATGGGTGGGTGAGGAAACCACAGCCCGGCTGGTGTTTCAGGTGGACCTGCTCAGACAGAGCCTTGTGCACAGGCACCCTGAGCTTGAAATCAAGTCTGTCGATGGCTTCCAAGGCCGAGAGAAGGAGGCCGTGATACTGTCCTTCGTCAGATCCAACAGGAAAGGTACGGAGCCCTCGCCAGAGTCCTTTGGGGACAGCACAGAAGTGAATTTATTGATTGAGGGGCATATTGGGTGTCTGCTGGGTGCCACACTGGTTTCTGGCAGTGTGCTCATGGTGCACCTTCTGTCCTTAGTAAGTTCACGTCAGGCAAAGCACAGGCAAGAGAGTCTGCAGAGGCTCAGAGGCGTGAGTGTGCTGTCAGGGAGCAGGTGGCTGGGGTGGCAGCTGGGGGCGCAGGGTGGGCTGGGAATGATCAGGACATCCTGCCGAGGAGGTGAAGCCCCCTGCAGCCCAGAGCTGGCCTTTAGCCTCCATGCACGGAGCCGCGGGGTGTGGTGGTCGTGGCTGTGGTTTCTGTGCTGCTGTGGTGTGTGGGCTTTCCCATTTGGGATGAGCATTGTTCCCAGAAGCAGGTTTAGTGAACGGGCTTTGTGAGACATTCTCAGAAGGCAGAAAGCAGGTGAGGCCTGGCTAGAAGCTATGGGGGAAAGAAGGGAAGGTCCTGGAAGGTTTCTTGTGCTTTCTCCCTGGTGCCAGCTGCAGCCACACCCCAGGCGGCCCCTGAGGCTGGGCTTAGAAGGAAAGGAGCGACAGAACCCAGTCGGGTTCCCCAGAGCCCCACTCAGTCAGCCGTGGCAGCCAGATGCCAGGGCAGGTGTGGCATCACGGTGCCACGCGTGGCCGGGCACCCGTGTGGATGGTGGGCCACGCGCAGGGGACTACACTTTTGGTGGTGGTTACTGATAAGGGCGTAGGAGCCTGACTGTGTTTCTTAGTCTGAAACCTGCTTCTCACTCCCCTCTGGCCTTTTGTAGGTGAAGTTGGTTTTCTTGCTGAGGACCGGAGGATCAACGTGGCTGTCACCCGTGCCCGACGCCACGTGGCGGTCATCTGTGACTCCCGTACTGTCAACAACCATGCATTTTTGAAGACCCTGGTGGAGTATTTCACACAGCATGGGGAAGTACGCACGGCCTTTGAGTATCTTGACGATATTGTCCCAGAAAACTATTCCCATGAGAACTCCCAGGGTTCCAGCCACGCTGCCACCAAGCCCCAGGGACCTGCTACGTCCACCAGGACCGGAAGCCA
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CTCTGGCACCAGGTGGCCCGGGCAGGTCCTGGCTCTGCAGCTCACCCGGGCAGCTGTGGGCTGGCAGCCTCCTCTGTCTCACCCTTCTTACATGTAATATGGGAGTCATAACAGTAGCCACCTCATGAGGTTGTTATAAGGATGAAGGGAGTTAATCCACATCTGGCACACCCAGCAGTGCCTGGCGCCTGGGCAGTGCTCAGCCGCTGCAGCCGTTCTTGGTGGGAGTGGACTTGACTGCTCACAGTTGGAGCATGTTGGAGTGTGTTCGTTCCCTGTTATGGCTGTGACAAATGACCACAAGCTTAGTGGCTGACAACAACAGATTTTCTGACCTCCAGAAACGACAATCTGGGGGTCAGATGTCCAAAATCAGACTCACCGGCTTAAAATCAAGGTGTGGGTGGGGTTGCTTCTTCTGGAGGATCCAGGGGAAAACCCATCTCCTGGTCTTTTCCGGCTCCTAGAGGCCACTGCTTGACTTGTTGCCCTTTCCTCTGTCTATGAAGCCAGCCGTGTTACGTCTTCAAATCTCTCCCCTCGGTGACCTTCTCTGACTGACCCTCGCATGCCCCCTTATAAGACCCTTGGGTTATCACCTGGGTCATCCAGGGTCGCCTCCCCATCCCAGGATCCTTAACTTCATCTCAGCTGCAGCGTCCCTGTTGTCCTGTAAGGGAACATTCACGGGCCTTGGCGATTGGATGTAGGTGCCTTTGGGGCTGTGATTCAGCCAAACCCGCCCCTTGGTTACTTCTGGGTCAGAATCCAGGGGAGAGTTGGGTCCTGAGGTTTGGGGCCTGTCCTCCTCACTTGCTGTGGTTCACACCTGGACTCTGGGGCTCAGGCCTGCCTTCCCCCTTTCTCCCTCCTGGGCGCAGGGCTGCGCTGGCAGGACTGTCACTCAGCCTGATGGAACGCCTGGCTGAGGAGTACGGCGCGAGGGTGGTGCGGACACTGACGGTGCAGTACCGCATGCACCAGGCTATCATGCGCTGGGCCTCAGACACCATGTACCTTGGGCAGCTCACAGCCCACTCTTCCGTGGCAAGGCACCTCCTGAGGTGAGTAGCTCGGCACCACCCGCCGCCCCATCCTTCTGCCCTGGCTAATCCTCTGCGTCACCTGTTTCTACGCAGCAAGCTAAAGTGAAGCTTTCTGCATGAAAGTCGACTCTGAGGCTAGCTTTTTGGAAGAGAGGGTGGCCTTGCCCTGGAGAGCTGGGTCAGGCCCGCTCCCTCCCTTCTGATGTCCTGATGTGCTCATTGTCCTCCCCTACCTAAGCCTTTTCCTCGTGGGAGGGGTCGGTTCTGTTGGGTGGGGCCTCAGTGCTGCACTGTGGCCCCCTGATGTGCTCCCTCTCTGCCTGTGTGCCAGGGACCTCCCAGGTGTGGCTGCCACAGAAGAGACGGGTGTGCCCCTGCTCTTGGTGGACACCGCCGGCTGCGGGCTGTTTGAGCTGGAGGAGGAGGACGAACAGTCGAAAGGGAACCCTGGTGAGCTTGCTTGCAGATGGCCAGCTTTTTTGTTTAAACATACCTCCAGCTCTTTAAAAATAAAAGGCACTTTAATTGCCTAATTCCGGGAGGAGCTGAGAGCAGTTGTTGATGGCCGTGAAAAAACGGAGCCCCACACTGCAAGAGGCTGAGCAGCATCGTTTTCTCCAGGGTGAGCAGACCGCTCCTGGGTGAGATGGGCCTGGCAGCATTTTACGGCCTTCTCCTGAATGGTGGCCCAGCTCTGCCTGGCTGGTCTGGTGATGGGAACTGTCATTGCTCAGCTGACACCACCATCTCCCCAGTTCCACGTTGAACAGGATGCACGGCCATAGGAGTCAAAAGGCCTTCATTGCTGATGTGAAATTCAAGTTAGCTGGGCATGGCTGGTCCTGGGGCCCTGGGACACAGATGATTAGCTCCCAGGAAGCCACCTGAGTGGAGGATCAGCTGGCCATGATAGACAGAAACGTGCCCGAAACACGTGTTGGTGGTGGATGCCCACTTGGGGCGACCTTGTGCTGCTCACCCGTTCTTTCTTTCCCTCCAGGCAAAGTCCGCCTCGTCAGTTTGCACATCCAGGCTCTGGTGGACGCTGGTGTTCCAGCCCGTGACATTGCTGTGGTCTCGCCATACAACCTCCAGGTACGAGGGTTTCCTTTTGTCCCTCTACAGAGCAGCTGGGGCTCACACAACCTAGAGGGTGAAAGAAAAAGGGTGATTTGTTGGCTGTGGTGACCGAAAAGTTCAGGGGTAGGGCTGACCTTATTGTGACTGGATCCAGGGCCCAAATGATGTCGTCAGGGGCCCCTCTGCGTGTTCGTCTGCCCGCCCCACCTTGCCCCGCCCTGCCCGGTGCCCCAGCCTTCTGCACTGGCTTGTGTTCTGGCCAGATTTGCTGGGTGACCCCGGCAGCCTCAGGCTGACACAGTCCTTCCACGGGCAGCCCTGGCGGAACAGCCTGTCCTTTTCTGGCATTTCCCACAGGAGTCTCAGCCTTGAGCCTTGCTGGTCTGGCTCAGGTCGTGTTCCCATGCGTATCTCATTTGGTAGGAAAAATGTACCTTCTGGAGTATCGGGAGGATCTGTGGAAGTGGCCATCATACCTTCCTGGTGTGCAGGCATCACACATAGGGCTGTCTGAGGCTGGCGGCTGTCATAAGCCAAAAGAAATGATCAAATGCCAGGGACAGGGTGTGGTATTGGCGTGCATGCGTGCCCGTGAGGAGGGCGAACGGGAAGCCTTTCCCCATGGGGCTCCTGCAGGCTCCGCTTCCCAGGTCCTGGCTGTTTCACAGCGTGAGGCCCTCTGCTGAGCTGAAGGGCAGGGTCTTGCTGCGCTGGCATGGGTGGGTGAGGAAACCACAGCCCGGCTGGTGTTTCAGGTGGACCTGCTCAGACAGAGCCTTGTGCACAGGCACCCTGAGCTTGAAATCAAGTCTGTCGATGGCTTCCAAGGCCGAGAGAAGGAGGCCGTGATACTGTCCTTCGTCAGATCCAACAGGAAAGGTACGGAGCCCTCGCCAGAGTCCTTTGGGGACAGCACAGAAGTGAATTTATTGATTGAGGGGCATATTGGGTGTCTGCTGGGTGCCACACTGGTTTCTGGCAGTGTGCTCATGGTGCACCTTCTGTCCTTAGTAAGTTCACGTCAGGCAAAGCACAGGCAAGAGAGTCTGCAGAGGCTCAGAGGCGTGAGTGTGCTGTCAGGGAGCAGGTGGCTGGGGTGGCAGCTGGGGGCGCAGGGTGGGCTGGGAATGATCAGGACATCCTGCCGAGGAGGTGAAGCCCCCTGCAGCCCAGAGCTGGCCTTTAGCCTCCATGCACGGAGCCGCGGGGTGTGGTGGTCGTGGCTGTGGTTTCTGTGCTGCTGTGGTGTGTGGGCTTTCCCATTTGGGATGAGCATTGTTCCCAGAAGCAGGTTTAGTGAACGGGCTTTGTGAGACATTCTCAGAAGGCAGAAAGCAGGTGAGGCCTGGCTAGAAGCTATGGGGGAAAGAAGGGAAGGTCCTGGAAGGTTTCTTGTGCTTTCTCCCTGGTGCCAGCTGCAGCCACACCCCAGGCGGCCCCTGAGGCTGGGCTTAGAAGGAAAGGAGCGACAGAACCCAGTCGGGTTCCCCAGAGCCCCACTCAGTCAGCCGTGGCAGCCAGATGCCAGGGCAGGTGTGGCATCACGGTGCCACGCGTGGCCGGGCACCCGTGTGGATGGTGGGCCACGCGCAGGGGACTACACTTTTGGTGGTGGTTACTGATAAGGGCGTAGGAGCCTGACTGTGTTTCTTAGTCTGAAACCTGCTTCTCACTCCCCTCTGGCCTTTTGTAGGTGAAGTTGGTTTTCTTGCTGAGGACCGGAGGATCAACGTGGCTGTCACCCGTGCCCGACGCCACGTGGCGGTCATCTGTGACTCCCGTACTGTCAACAACCATGCATTTTTGAAGACCCTGGTGGAGTATTTCACACAGCATGGGGAAGTACGCACGGCCTTTGAGTATCTTGACGATATTGTCCCAGAAAACTATTCCCATGAGAACTCCCAGGGTTCCAGCCACGCTGCCACCAAGCCCCAGGGACCTGCTACGTCCACCAGGACCGGAAGCCA
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Task1_train_16225
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This genomic variant is located on Chromosome 11, within the LOC126861245, IGHMBP2 (CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:68701479-68702678| immunoglobulin mu DNA binding protein 2) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Autosomal recessive distal spinal muscular atrophy 1
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CTCTGGCACCAGGTGGCCCGGGCAGGTCCTGGCTCTGCAGCTCACCCGGGCAGCTGTGGGCTGGCAGCCTCCTCTGTCTCACCCTTCTTACATGTAATATGGGAGTCATAACAGTAGCCACCTCATGAGGTTGTTATAAGGATGAAGGGAGTTAATCCACATCTGGCACACCCAGCAGTGCCTGGCGCCTGGGCAGTGCTCAGCCGCTGCAGCCGTTCTTGGTGGGAGTGGACTTGACTGCTCACAGTTGGAGCATGTTGGAGTGTGTTCGTTCCCTGTTATGGCTGTGACAAATGACCACAAGCTTAGTGGCTGACAACAACAGATTTTCTGACCTCCAGAAACGACAATCTGGGGGTCAGATGTCCAAAATCAGACTCACCGGCTTAAAATCAAGGTGTGGGTGGGGTTGCTTCTTCTGGAGGATCCAGGGGAAAACCCATCTCCTGGTCTTTTCCGGCTCCTAGAGGCCACTGCTTGACTTGTTGCCCTTTCCTCTGTCTATGAAGCCAGCCGTGTTACGTCTTCAAATCTCTCCCCTCGGTGACCTTCTCTGACTGACCCTCGCATGCCCCCTTATAAGACCCTTGGGTTATCACCTGGGTCATCCAGGGTCGCCTCCCCATCCCAGGATCCTTAACTTCATCTCAGCTGCAGCGTCCCTGTTGTCCTGTAAGGGAACATTCACGGGCCTTGGCGATTGGATGTAGGTGCCTTTGGGGCTGTGATTCAGCCAAACCCGCCCCTTGGTTACTTCTGGGTCAGAATCCAGGGGAGAGTTGGGTCCTGAGGTTTGGGGCCTGTCCTCCTCACTTGCTGTGGTTCACACCTGGACTCTGGGGCTCAGGCCTGCCTTCCCCCTTTCTCCCTCCTGGGCGCAGGGCTGCGCTGGCAGGACTGTCACTCAGCCTGATGGAACGCCTGGCTGAGGAGTACGGCGCGAGGGTGGTGCGGACACTGACGGTGCAGTACCGCATGCACCAGGCTATCATGCGCTGGGCCTCAGACACCATGTACCTTGGGCAGCTCACAGCCCACTCTTCCGTGGCAAGGCACCTCCTGAGGTGAGTAGCTCGGCACCACCCGCCGCCCCATCCTTCTGCCCTGGCTAATCCTCTGCGTCACCTGTTTCTACGCAGCAAGCTAAAGTGAAGCTTTCTGCATGAAAGTCGACTCTGAGGCTAGCTTTTTGGAAGAGAGGGTGGCCTTGCCCTGGAGAGCTGGGTCAGGCCCGCTCCCTCCCTTCTGATGTCCTGATGTGCTCATTGTCCTCCCCTACCTAAGCCTTTTCCTCGTGGGAGGGGTCGGTTCTGTTGGGTGGGGCCTCAGTGCTGCACTGTGGCCCCCTGATGTGCTCCCTCTCTGCCTGTGTGCCAGGGACCTCCCAGGTGTGGCTGCCACAGAAGAGACGGGTGTGCCCCTGCTCTTGGTGGACACCGCCGGCTGCGGGCTGTTTGAGCTGGAGGAGGAGGACGAACAGTCGAAAGGGAACCCTGGTGAGCTTGCTTGCAGATGGCCAGCTTTTTTGTTTAAACATACCTCCAGCTCTTTAAAAATAAAAGGCACTTTAATTGCCTAATTCCGGGAGGAGCTGAGAGCAGTTGTTGATGGCCGTGAAAAAACGGAGCCCCACACTGCAAGAGGCTGAGCAGCATCGTTTTCTCCAGGGTGAGCAGACCGCTCCTGGGTGAGATGGGCCTGGCAGCATTTTACGGCCTTCTCCTGAATGGTGGCCCAGCTCTGCCTGGCTGGTCTGGTGATGGGAACTGTCATTGCTCAGCTGACACCACCATCTCCCCAGTTCCACGTTGAACAGGATGCACGGCCATAGGAGTCAAAAGGCCTTCATTGCTGATGTGAAATTCAAGTTAGCTGGGCATGGCTGGTCCTGGGGCCCTGGGACACAGATGATTAGCTCCCAGGAAGCCACCTGAGTGGAGGATCAGCTGGCCATGATAGACAGAAACGTGCCCGAAACACGTGTTGGTGGTGGATGCCCACTTGGGGCGACCTTGTGCTGCTCACCCGTTCTTTCTTTCCCTCCAGGCGAAGTCCGCCTCGTCAGTTTGCACATCCAGGCTCTGGTGGACGCTGGTGTTCCAGCCCGTGACATTGCTGTGGTCTCGCCATACAACCTCCAGGTACGAGGGTTTCCTTTTGTCCCTCTACAGAGCAGCTGGGGCTCACACAACCTAGAGGGTGAAAGAAAAAGGGTGATTTGTTGGCTGTGGTGACCGAAAAGTTCAGGGGTAGGGCTGACCTTATTGTGACTGGATCCAGGGCCCAAATGATGTCGTCAGGGGCCCCTCTGCGTGTTCGTCTGCCCGCCCCACCTTGCCCCGCCCTGCCCGGTGCCCCAGCCTTCTGCACTGGCTTGTGTTCTGGCCAGATTTGCTGGGTGACCCCGGCAGCCTCAGGCTGACACAGTCCTTCCACGGGCAGCCCTGGCGGAACAGCCTGTCCTTTTCTGGCATTTCCCACAGGAGTCTCAGCCTTGAGCCTTGCTGGTCTGGCTCAGGTCGTGTTCCCATGCGTATCTCATTTGGTAGGAAAAATGTACCTTCTGGAGTATCGGGAGGATCTGTGGAAGTGGCCATCATACCTTCCTGGTGTGCAGGCATCACACATAGGGCTGTCTGAGGCTGGCGGCTGTCATAAGCCAAAAGAAATGATCAAATGCCAGGGACAGGGTGTGGTATTGGCGTGCATGCGTGCCCGTGAGGAGGGCGAACGGGAAGCCTTTCCCCATGGGGCTCCTGCAGGCTCCGCTTCCCAGGTCCTGGCTGTTTCACAGCGTGAGGCCCTCTGCTGAGCTGAAGGGCAGGGTCTTGCTGCGCTGGCATGGGTGGGTGAGGAAACCACAGCCCGGCTGGTGTTTCAGGTGGACCTGCTCAGACAGAGCCTTGTGCACAGGCACCCTGAGCTTGAAATCAAGTCTGTCGATGGCTTCCAAGGCCGAGAGAAGGAGGCCGTGATACTGTCCTTCGTCAGATCCAACAGGAAAGGTACGGAGCCCTCGCCAGAGTCCTTTGGGGACAGCACAGAAGTGAATTTATTGATTGAGGGGCATATTGGGTGTCTGCTGGGTGCCACACTGGTTTCTGGCAGTGTGCTCATGGTGCACCTTCTGTCCTTAGTAAGTTCACGTCAGGCAAAGCACAGGCAAGAGAGTCTGCAGAGGCTCAGAGGCGTGAGTGTGCTGTCAGGGAGCAGGTGGCTGGGGTGGCAGCTGGGGGCGCAGGGTGGGCTGGGAATGATCAGGACATCCTGCCGAGGAGGTGAAGCCCCCTGCAGCCCAGAGCTGGCCTTTAGCCTCCATGCACGGAGCCGCGGGGTGTGGTGGTCGTGGCTGTGGTTTCTGTGCTGCTGTGGTGTGTGGGCTTTCCCATTTGGGATGAGCATTGTTCCCAGAAGCAGGTTTAGTGAACGGGCTTTGTGAGACATTCTCAGAAGGCAGAAAGCAGGTGAGGCCTGGCTAGAAGCTATGGGGGAAAGAAGGGAAGGTCCTGGAAGGTTTCTTGTGCTTTCTCCCTGGTGCCAGCTGCAGCCACACCCCAGGCGGCCCCTGAGGCTGGGCTTAGAAGGAAAGGAGCGACAGAACCCAGTCGGGTTCCCCAGAGCCCCACTCAGTCAGCCGTGGCAGCCAGATGCCAGGGCAGGTGTGGCATCACGGTGCCACGCGTGGCCGGGCACCCGTGTGGATGGTGGGCCACGCGCAGGGGACTACACTTTTGGTGGTGGTTACTGATAAGGGCGTAGGAGCCTGACTGTGTTTCTTAGTCTGAAACCTGCTTCTCACTCCCCTCTGGCCTTTTGTAGGTGAAGTTGGTTTTCTTGCTGAGGACCGGAGGATCAACGTGGCTGTCACCCGTGCCCGACGCCACGTGGCGGTCATCTGTGACTCCCGTACTGTCAACAACCATGCATTTTTGAAGACCCTGGTGGAGTATTTCACACAGCATGGGGAAGTACGCACGGCCTTTGAGTATCTTGACGATATTGTCCCAGAAAACTATTCCCATGAGAACTCCCAGGGTTCCAGCCACGCTGCCACCAAGCCCCAGGGACCTGCTACGTCCACCAGGACCGGAAGCCA
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CTCTGGCACCAGGTGGCCCGGGCAGGTCCTGGCTCTGCAGCTCACCCGGGCAGCTGTGGGCTGGCAGCCTCCTCTGTCTCACCCTTCTTACATGTAATATGGGAGTCATAACAGTAGCCACCTCATGAGGTTGTTATAAGGATGAAGGGAGTTAATCCACATCTGGCACACCCAGCAGTGCCTGGCGCCTGGGCAGTGCTCAGCCGCTGCAGCCGTTCTTGGTGGGAGTGGACTTGACTGCTCACAGTTGGAGCATGTTGGAGTGTGTTCGTTCCCTGTTATGGCTGTGACAAATGACCACAAGCTTAGTGGCTGACAACAACAGATTTTCTGACCTCCAGAAACGACAATCTGGGGGTCAGATGTCCAAAATCAGACTCACCGGCTTAAAATCAAGGTGTGGGTGGGGTTGCTTCTTCTGGAGGATCCAGGGGAAAACCCATCTCCTGGTCTTTTCCGGCTCCTAGAGGCCACTGCTTGACTTGTTGCCCTTTCCTCTGTCTATGAAGCCAGCCGTGTTACGTCTTCAAATCTCTCCCCTCGGTGACCTTCTCTGACTGACCCTCGCATGCCCCCTTATAAGACCCTTGGGTTATCACCTGGGTCATCCAGGGTCGCCTCCCCATCCCAGGATCCTTAACTTCATCTCAGCTGCAGCGTCCCTGTTGTCCTGTAAGGGAACATTCACGGGCCTTGGCGATTGGATGTAGGTGCCTTTGGGGCTGTGATTCAGCCAAACCCGCCCCTTGGTTACTTCTGGGTCAGAATCCAGGGGAGAGTTGGGTCCTGAGGTTTGGGGCCTGTCCTCCTCACTTGCTGTGGTTCACACCTGGACTCTGGGGCTCAGGCCTGCCTTCCCCCTTTCTCCCTCCTGGGCGCAGGGCTGCGCTGGCAGGACTGTCACTCAGCCTGATGGAACGCCTGGCTGAGGAGTACGGCGCGAGGGTGGTGCGGACACTGACGGTGCAGTACCGCATGCACCAGGCTATCATGCGCTGGGCCTCAGACACCATGTACCTTGGGCAGCTCACAGCCCACTCTTCCGTGGCAAGGCACCTCCTGAGGTGAGTAGCTCGGCACCACCCGCCGCCCCATCCTTCTGCCCTGGCTAATCCTCTGCGTCACCTGTTTCTACGCAGCAAGCTAAAGTGAAGCTTTCTGCATGAAAGTCGACTCTGAGGCTAGCTTTTTGGAAGAGAGGGTGGCCTTGCCCTGGAGAGCTGGGTCAGGCCCGCTCCCTCCCTTCTGATGTCCTGATGTGCTCATTGTCCTCCCCTACCTAAGCCTTTTCCTCGTGGGAGGGGTCGGTTCTGTTGGGTGGGGCCTCAGTGCTGCACTGTGGCCCCCTGATGTGCTCCCTCTCTGCCTGTGTGCCAGGGACCTCCCAGGTGTGGCTGCCACAGAAGAGACGGGTGTGCCCCTGCTCTTGGTGGACACCGCCGGCTGCGGGCTGTTTGAGCTGGAGGAGGAGGACGAACAGTCGAAAGGGAACCCTGGTGAGCTTGCTTGCAGATGGCCAGCTTTTTTGTTTAAACATACCTCCAGCTCTTTAAAAATAAAAGGCACTTTAATTGCCTAATTCCGGGAGGAGCTGAGAGCAGTTGTTGATGGCCGTGAAAAAACGGAGCCCCACACTGCAAGAGGCTGAGCAGCATCGTTTTCTCCAGGGTGAGCAGACCGCTCCTGGGTGAGATGGGCCTGGCAGCATTTTACGGCCTTCTCCTGAATGGTGGCCCAGCTCTGCCTGGCTGGTCTGGTGATGGGAACTGTCATTGCTCAGCTGACACCACCATCTCCCCAGTTCCACGTTGAACAGGATGCACGGCCATAGGAGTCAAAAGGCCTTCATTGCTGATGTGAAATTCAAGTTAGCTGGGCATGGCTGGTCCTGGGGCCCTGGGACACAGATGATTAGCTCCCAGGAAGCCACCTGAGTGGAGGATCAGCTGGCCATGATAGACAGAAACGTGCCCGAAACACGTGTTGGTGGTGGATGCCCACTTGGGGCGACCTTGTGCTGCTCACCCGTTCTTTCTTTCCCTCCAGGCAAAGTCCGCCTCGTCAGTTTGCACATCCAGGCTCTGGTGGACGCTGGTGTTCCAGCCCGTGACATTGCTGTGGTCTCGCCATACAACCTCCAGGTACGAGGGTTTCCTTTTGTCCCTCTACAGAGCAGCTGGGGCTCACACAACCTAGAGGGTGAAAGAAAAAGGGTGATTTGTTGGCTGTGGTGACCGAAAAGTTCAGGGGTAGGGCTGACCTTATTGTGACTGGATCCAGGGCCCAAATGATGTCGTCAGGGGCCCCTCTGCGTGTTCGTCTGCCCGCCCCACCTTGCCCCGCCCTGCCCGGTGCCCCAGCCTTCTGCACTGGCTTGTGTTCTGGCCAGATTTGCTGGGTGACCCCGGCAGCCTCAGGCTGACACAGTCCTTCCACGGGCAGCCCTGGCGGAACAGCCTGTCCTTTTCTGGCATTTCCCACAGGAGTCTCAGCCTTGAGCCTTGCTGGTCTGGCTCAGGTCGTGTTCCCATGCGTATCTCATTTGGTAGGAAAAATGTACCTTCTGGAGTATCGGGAGGATCTGTGGAAGTGGCCATCATACCTTCCTGGTGTGCAGGCATCACACATAGGGCTGTCTGAGGCTGGCGGCTGTCATAAGCCAAAAGAAATGATCAAATGCCAGGGACAGGGTGTGGTATTGGCGTGCATGCGTGCCCGTGAGGAGGGCGAACGGGAAGCCTTTCCCCATGGGGCTCCTGCAGGCTCCGCTTCCCAGGTCCTGGCTGTTTCACAGCGTGAGGCCCTCTGCTGAGCTGAAGGGCAGGGTCTTGCTGCGCTGGCATGGGTGGGTGAGGAAACCACAGCCCGGCTGGTGTTTCAGGTGGACCTGCTCAGACAGAGCCTTGTGCACAGGCACCCTGAGCTTGAAATCAAGTCTGTCGATGGCTTCCAAGGCCGAGAGAAGGAGGCCGTGATACTGTCCTTCGTCAGATCCAACAGGAAAGGTACGGAGCCCTCGCCAGAGTCCTTTGGGGACAGCACAGAAGTGAATTTATTGATTGAGGGGCATATTGGGTGTCTGCTGGGTGCCACACTGGTTTCTGGCAGTGTGCTCATGGTGCACCTTCTGTCCTTAGTAAGTTCACGTCAGGCAAAGCACAGGCAAGAGAGTCTGCAGAGGCTCAGAGGCGTGAGTGTGCTGTCAGGGAGCAGGTGGCTGGGGTGGCAGCTGGGGGCGCAGGGTGGGCTGGGAATGATCAGGACATCCTGCCGAGGAGGTGAAGCCCCCTGCAGCCCAGAGCTGGCCTTTAGCCTCCATGCACGGAGCCGCGGGGTGTGGTGGTCGTGGCTGTGGTTTCTGTGCTGCTGTGGTGTGTGGGCTTTCCCATTTGGGATGAGCATTGTTCCCAGAAGCAGGTTTAGTGAACGGGCTTTGTGAGACATTCTCAGAAGGCAGAAAGCAGGTGAGGCCTGGCTAGAAGCTATGGGGGAAAGAAGGGAAGGTCCTGGAAGGTTTCTTGTGCTTTCTCCCTGGTGCCAGCTGCAGCCACACCCCAGGCGGCCCCTGAGGCTGGGCTTAGAAGGAAAGGAGCGACAGAACCCAGTCGGGTTCCCCAGAGCCCCACTCAGTCAGCCGTGGCAGCCAGATGCCAGGGCAGGTGTGGCATCACGGTGCCACGCGTGGCCGGGCACCCGTGTGGATGGTGGGCCACGCGCAGGGGACTACACTTTTGGTGGTGGTTACTGATAAGGGCGTAGGAGCCTGACTGTGTTTCTTAGTCTGAAACCTGCTTCTCACTCCCCTCTGGCCTTTTGTAGGTGAAGTTGGTTTTCTTGCTGAGGACCGGAGGATCAACGTGGCTGTCACCCGTGCCCGACGCCACGTGGCGGTCATCTGTGACTCCCGTACTGTCAACAACCATGCATTTTTGAAGACCCTGGTGGAGTATTTCACACAGCATGGGGAAGTACGCACGGCCTTTGAGTATCTTGACGATATTGTCCCAGAAAACTATTCCCATGAGAACTCCCAGGGTTCCAGCCACGCTGCCACCAAGCCCCAGGGACCTGCTACGTCCACCAGGACCGGAAGCCA
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Task1_train_16226
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Given this context: Chromosome 11, gene LOC126861245, IGHMBP2 (CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:68701479-68702678| immunoglobulin mu DNA binding protein 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Charcot-Marie-Tooth disease axonal type 2S
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CTCTGGCACCAGGTGGCCCGGGCAGGTCCTGGCTCTGCAGCTCACCCGGGCAGCTGTGGGCTGGCAGCCTCCTCTGTCTCACCCTTCTTACATGTAATATGGGAGTCATAACAGTAGCCACCTCATGAGGTTGTTATAAGGATGAAGGGAGTTAATCCACATCTGGCACACCCAGCAGTGCCTGGCGCCTGGGCAGTGCTCAGCCGCTGCAGCCGTTCTTGGTGGGAGTGGACTTGACTGCTCACAGTTGGAGCATGTTGGAGTGTGTTCGTTCCCTGTTATGGCTGTGACAAATGACCACAAGCTTAGTGGCTGACAACAACAGATTTTCTGACCTCCAGAAACGACAATCTGGGGGTCAGATGTCCAAAATCAGACTCACCGGCTTAAAATCAAGGTGTGGGTGGGGTTGCTTCTTCTGGAGGATCCAGGGGAAAACCCATCTCCTGGTCTTTTCCGGCTCCTAGAGGCCACTGCTTGACTTGTTGCCCTTTCCTCTGTCTATGAAGCCAGCCGTGTTACGTCTTCAAATCTCTCCCCTCGGTGACCTTCTCTGACTGACCCTCGCATGCCCCCTTATAAGACCCTTGGGTTATCACCTGGGTCATCCAGGGTCGCCTCCCCATCCCAGGATCCTTAACTTCATCTCAGCTGCAGCGTCCCTGTTGTCCTGTAAGGGAACATTCACGGGCCTTGGCGATTGGATGTAGGTGCCTTTGGGGCTGTGATTCAGCCAAACCCGCCCCTTGGTTACTTCTGGGTCAGAATCCAGGGGAGAGTTGGGTCCTGAGGTTTGGGGCCTGTCCTCCTCACTTGCTGTGGTTCACACCTGGACTCTGGGGCTCAGGCCTGCCTTCCCCCTTTCTCCCTCCTGGGCGCAGGGCTGCGCTGGCAGGACTGTCACTCAGCCTGATGGAACGCCTGGCTGAGGAGTACGGCGCGAGGGTGGTGCGGACACTGACGGTGCAGTACCGCATGCACCAGGCTATCATGCGCTGGGCCTCAGACACCATGTACCTTGGGCAGCTCACAGCCCACTCTTCCGTGGCAAGGCACCTCCTGAGGTGAGTAGCTCGGCACCACCCGCCGCCCCATCCTTCTGCCCTGGCTAATCCTCTGCGTCACCTGTTTCTACGCAGCAAGCTAAAGTGAAGCTTTCTGCATGAAAGTCGACTCTGAGGCTAGCTTTTTGGAAGAGAGGGTGGCCTTGCCCTGGAGAGCTGGGTCAGGCCCGCTCCCTCCCTTCTGATGTCCTGATGTGCTCATTGTCCTCCCCTACCTAAGCCTTTTCCTCGTGGGAGGGGTCGGTTCTGTTGGGTGGGGCCTCAGTGCTGCACTGTGGCCCCCTGATGTGCTCCCTCTCTGCCTGTGTGCCAGGGACCTCCCAGGTGTGGCTGCCACAGAAGAGACGGGTGTGCCCCTGCTCTTGGTGGACACCGCCGGCTGCGGGCTGTTTGAGCTGGAGGAGGAGGACGAACAGTCGAAAGGGAACCCTGGTGAGCTTGCTTGCAGATGGCCAGCTTTTTTGTTTAAACATACCTCCAGCTCTTTAAAAATAAAAGGCACTTTAATTGCCTAATTCCGGGAGGAGCTGAGAGCAGTTGTTGATGGCCGTGAAAAAACGGAGCCCCACACTGCAAGAGGCTGAGCAGCATCGTTTTCTCCAGGGTGAGCAGACCGCTCCTGGGTGAGATGGGCCTGGCAGCATTTTACGGCCTTCTCCTGAATGGTGGCCCAGCTCTGCCTGGCTGGTCTGGTGATGGGAACTGTCATTGCTCAGCTGACACCACCATCTCCCCAGTTCCACGTTGAACAGGATGCACGGCCATAGGAGTCAAAAGGCCTTCATTGCTGATGTGAAATTCAAGTTAGCTGGGCATGGCTGGTCCTGGGGCCCTGGGACACAGATGATTAGCTCCCAGGAAGCCACCTGAGTGGAGGATCAGCTGGCCATGATAGACAGAAACGTGCCCGAAACACGTGTTGGTGGTGGATGCCCACTTGGGGCGACCTTGTGCTGCTCACCCGTTCTTTCTTTCCCTCCAGGCGAAGTCCGCCTCGTCAGTTTGCACATCCAGGCTCTGGTGGACGCTGGTGTTCCAGCCCGTGACATTGCTGTGGTCTCGCCATACAACCTCCAGGTACGAGGGTTTCCTTTTGTCCCTCTACAGAGCAGCTGGGGCTCACACAACCTAGAGGGTGAAAGAAAAAGGGTGATTTGTTGGCTGTGGTGACCGAAAAGTTCAGGGGTAGGGCTGACCTTATTGTGACTGGATCCAGGGCCCAAATGATGTCGTCAGGGGCCCCTCTGCGTGTTCGTCTGCCCGCCCCACCTTGCCCCGCCCTGCCCGGTGCCCCAGCCTTCTGCACTGGCTTGTGTTCTGGCCAGATTTGCTGGGTGACCCCGGCAGCCTCAGGCTGACACAGTCCTTCCACGGGCAGCCCTGGCGGAACAGCCTGTCCTTTTCTGGCATTTCCCACAGGAGTCTCAGCCTTGAGCCTTGCTGGTCTGGCTCAGGTCGTGTTCCCATGCGTATCTCATTTGGTAGGAAAAATGTACCTTCTGGAGTATCGGGAGGATCTGTGGAAGTGGCCATCATACCTTCCTGGTGTGCAGGCATCACACATAGGGCTGTCTGAGGCTGGCGGCTGTCATAAGCCAAAAGAAATGATCAAATGCCAGGGACAGGGTGTGGTATTGGCGTGCATGCGTGCCCGTGAGGAGGGCGAACGGGAAGCCTTTCCCCATGGGGCTCCTGCAGGCTCCGCTTCCCAGGTCCTGGCTGTTTCACAGCGTGAGGCCCTCTGCTGAGCTGAAGGGCAGGGTCTTGCTGCGCTGGCATGGGTGGGTGAGGAAACCACAGCCCGGCTGGTGTTTCAGGTGGACCTGCTCAGACAGAGCCTTGTGCACAGGCACCCTGAGCTTGAAATCAAGTCTGTCGATGGCTTCCAAGGCCGAGAGAAGGAGGCCGTGATACTGTCCTTCGTCAGATCCAACAGGAAAGGTACGGAGCCCTCGCCAGAGTCCTTTGGGGACAGCACAGAAGTGAATTTATTGATTGAGGGGCATATTGGGTGTCTGCTGGGTGCCACACTGGTTTCTGGCAGTGTGCTCATGGTGCACCTTCTGTCCTTAGTAAGTTCACGTCAGGCAAAGCACAGGCAAGAGAGTCTGCAGAGGCTCAGAGGCGTGAGTGTGCTGTCAGGGAGCAGGTGGCTGGGGTGGCAGCTGGGGGCGCAGGGTGGGCTGGGAATGATCAGGACATCCTGCCGAGGAGGTGAAGCCCCCTGCAGCCCAGAGCTGGCCTTTAGCCTCCATGCACGGAGCCGCGGGGTGTGGTGGTCGTGGCTGTGGTTTCTGTGCTGCTGTGGTGTGTGGGCTTTCCCATTTGGGATGAGCATTGTTCCCAGAAGCAGGTTTAGTGAACGGGCTTTGTGAGACATTCTCAGAAGGCAGAAAGCAGGTGAGGCCTGGCTAGAAGCTATGGGGGAAAGAAGGGAAGGTCCTGGAAGGTTTCTTGTGCTTTCTCCCTGGTGCCAGCTGCAGCCACACCCCAGGCGGCCCCTGAGGCTGGGCTTAGAAGGAAAGGAGCGACAGAACCCAGTCGGGTTCCCCAGAGCCCCACTCAGTCAGCCGTGGCAGCCAGATGCCAGGGCAGGTGTGGCATCACGGTGCCACGCGTGGCCGGGCACCCGTGTGGATGGTGGGCCACGCGCAGGGGACTACACTTTTGGTGGTGGTTACTGATAAGGGCGTAGGAGCCTGACTGTGTTTCTTAGTCTGAAACCTGCTTCTCACTCCCCTCTGGCCTTTTGTAGGTGAAGTTGGTTTTCTTGCTGAGGACCGGAGGATCAACGTGGCTGTCACCCGTGCCCGACGCCACGTGGCGGTCATCTGTGACTCCCGTACTGTCAACAACCATGCATTTTTGAAGACCCTGGTGGAGTATTTCACACAGCATGGGGAAGTACGCACGGCCTTTGAGTATCTTGACGATATTGTCCCAGAAAACTATTCCCATGAGAACTCCCAGGGTTCCAGCCACGCTGCCACCAAGCCCCAGGGACCTGCTACGTCCACCAGGACCGGAAGCCA
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CTCTGGCACCAGGTGGCCCGGGCAGGTCCTGGCTCTGCAGCTCACCCGGGCAGCTGTGGGCTGGCAGCCTCCTCTGTCTCACCCTTCTTACATGTAATATGGGAGTCATAACAGTAGCCACCTCATGAGGTTGTTATAAGGATGAAGGGAGTTAATCCACATCTGGCACACCCAGCAGTGCCTGGCGCCTGGGCAGTGCTCAGCCGCTGCAGCCGTTCTTGGTGGGAGTGGACTTGACTGCTCACAGTTGGAGCATGTTGGAGTGTGTTCGTTCCCTGTTATGGCTGTGACAAATGACCACAAGCTTAGTGGCTGACAACAACAGATTTTCTGACCTCCAGAAACGACAATCTGGGGGTCAGATGTCCAAAATCAGACTCACCGGCTTAAAATCAAGGTGTGGGTGGGGTTGCTTCTTCTGGAGGATCCAGGGGAAAACCCATCTCCTGGTCTTTTCCGGCTCCTAGAGGCCACTGCTTGACTTGTTGCCCTTTCCTCTGTCTATGAAGCCAGCCGTGTTACGTCTTCAAATCTCTCCCCTCGGTGACCTTCTCTGACTGACCCTCGCATGCCCCCTTATAAGACCCTTGGGTTATCACCTGGGTCATCCAGGGTCGCCTCCCCATCCCAGGATCCTTAACTTCATCTCAGCTGCAGCGTCCCTGTTGTCCTGTAAGGGAACATTCACGGGCCTTGGCGATTGGATGTAGGTGCCTTTGGGGCTGTGATTCAGCCAAACCCGCCCCTTGGTTACTTCTGGGTCAGAATCCAGGGGAGAGTTGGGTCCTGAGGTTTGGGGCCTGTCCTCCTCACTTGCTGTGGTTCACACCTGGACTCTGGGGCTCAGGCCTGCCTTCCCCCTTTCTCCCTCCTGGGCGCAGGGCTGCGCTGGCAGGACTGTCACTCAGCCTGATGGAACGCCTGGCTGAGGAGTACGGCGCGAGGGTGGTGCGGACACTGACGGTGCAGTACCGCATGCACCAGGCTATCATGCGCTGGGCCTCAGACACCATGTACCTTGGGCAGCTCACAGCCCACTCTTCCGTGGCAAGGCACCTCCTGAGGTGAGTAGCTCGGCACCACCCGCCGCCCCATCCTTCTGCCCTGGCTAATCCTCTGCGTCACCTGTTTCTACGCAGCAAGCTAAAGTGAAGCTTTCTGCATGAAAGTCGACTCTGAGGCTAGCTTTTTGGAAGAGAGGGTGGCCTTGCCCTGGAGAGCTGGGTCAGGCCCGCTCCCTCCCTTCTGATGTCCTGATGTGCTCATTGTCCTCCCCTACCTAAGCCTTTTCCTCGTGGGAGGGGTCGGTTCTGTTGGGTGGGGCCTCAGTGCTGCACTGTGGCCCCCTGATGTGCTCCCTCTCTGCCTGTGTGCCAGGGACCTCCCAGGTGTGGCTGCCACAGAAGAGACGGGTGTGCCCCTGCTCTTGGTGGACACCGCCGGCTGCGGGCTGTTTGAGCTGGAGGAGGAGGACGAACAGTCGAAAGGGAACCCTGGTGAGCTTGCTTGCAGATGGCCAGCTTTTTTGTTTAAACATACCTCCAGCTCTTTAAAAATAAAAGGCACTTTAATTGCCTAATTCCGGGAGGAGCTGAGAGCAGTTGTTGATGGCCGTGAAAAAACGGAGCCCCACACTGCAAGAGGCTGAGCAGCATCGTTTTCTCCAGGGTGAGCAGACCGCTCCTGGGTGAGATGGGCCTGGCAGCATTTTACGGCCTTCTCCTGAATGGTGGCCCAGCTCTGCCTGGCTGGTCTGGTGATGGGAACTGTCATTGCTCAGCTGACACCACCATCTCCCCAGTTCCACGTTGAACAGGATGCACGGCCATAGGAGTCAAAAGGCCTTCATTGCTGATGTGAAATTCAAGTTAGCTGGGCATGGCTGGTCCTGGGGCCCTGGGACACAGATGATTAGCTCCCAGGAAGCCACCTGAGTGGAGGATCAGCTGGCCATGATAGACAGAAACGTGCCCGAAACACGTGTTGGTGGTGGATGCCCACTTGGGGCGACCTTGTGCTGCTCACCCGTTCTTTCTTTCCCTCCAGGCAAAGTCCGCCTCGTCAGTTTGCACATCCAGGCTCTGGTGGACGCTGGTGTTCCAGCCCGTGACATTGCTGTGGTCTCGCCATACAACCTCCAGGTACGAGGGTTTCCTTTTGTCCCTCTACAGAGCAGCTGGGGCTCACACAACCTAGAGGGTGAAAGAAAAAGGGTGATTTGTTGGCTGTGGTGACCGAAAAGTTCAGGGGTAGGGCTGACCTTATTGTGACTGGATCCAGGGCCCAAATGATGTCGTCAGGGGCCCCTCTGCGTGTTCGTCTGCCCGCCCCACCTTGCCCCGCCCTGCCCGGTGCCCCAGCCTTCTGCACTGGCTTGTGTTCTGGCCAGATTTGCTGGGTGACCCCGGCAGCCTCAGGCTGACACAGTCCTTCCACGGGCAGCCCTGGCGGAACAGCCTGTCCTTTTCTGGCATTTCCCACAGGAGTCTCAGCCTTGAGCCTTGCTGGTCTGGCTCAGGTCGTGTTCCCATGCGTATCTCATTTGGTAGGAAAAATGTACCTTCTGGAGTATCGGGAGGATCTGTGGAAGTGGCCATCATACCTTCCTGGTGTGCAGGCATCACACATAGGGCTGTCTGAGGCTGGCGGCTGTCATAAGCCAAAAGAAATGATCAAATGCCAGGGACAGGGTGTGGTATTGGCGTGCATGCGTGCCCGTGAGGAGGGCGAACGGGAAGCCTTTCCCCATGGGGCTCCTGCAGGCTCCGCTTCCCAGGTCCTGGCTGTTTCACAGCGTGAGGCCCTCTGCTGAGCTGAAGGGCAGGGTCTTGCTGCGCTGGCATGGGTGGGTGAGGAAACCACAGCCCGGCTGGTGTTTCAGGTGGACCTGCTCAGACAGAGCCTTGTGCACAGGCACCCTGAGCTTGAAATCAAGTCTGTCGATGGCTTCCAAGGCCGAGAGAAGGAGGCCGTGATACTGTCCTTCGTCAGATCCAACAGGAAAGGTACGGAGCCCTCGCCAGAGTCCTTTGGGGACAGCACAGAAGTGAATTTATTGATTGAGGGGCATATTGGGTGTCTGCTGGGTGCCACACTGGTTTCTGGCAGTGTGCTCATGGTGCACCTTCTGTCCTTAGTAAGTTCACGTCAGGCAAAGCACAGGCAAGAGAGTCTGCAGAGGCTCAGAGGCGTGAGTGTGCTGTCAGGGAGCAGGTGGCTGGGGTGGCAGCTGGGGGCGCAGGGTGGGCTGGGAATGATCAGGACATCCTGCCGAGGAGGTGAAGCCCCCTGCAGCCCAGAGCTGGCCTTTAGCCTCCATGCACGGAGCCGCGGGGTGTGGTGGTCGTGGCTGTGGTTTCTGTGCTGCTGTGGTGTGTGGGCTTTCCCATTTGGGATGAGCATTGTTCCCAGAAGCAGGTTTAGTGAACGGGCTTTGTGAGACATTCTCAGAAGGCAGAAAGCAGGTGAGGCCTGGCTAGAAGCTATGGGGGAAAGAAGGGAAGGTCCTGGAAGGTTTCTTGTGCTTTCTCCCTGGTGCCAGCTGCAGCCACACCCCAGGCGGCCCCTGAGGCTGGGCTTAGAAGGAAAGGAGCGACAGAACCCAGTCGGGTTCCCCAGAGCCCCACTCAGTCAGCCGTGGCAGCCAGATGCCAGGGCAGGTGTGGCATCACGGTGCCACGCGTGGCCGGGCACCCGTGTGGATGGTGGGCCACGCGCAGGGGACTACACTTTTGGTGGTGGTTACTGATAAGGGCGTAGGAGCCTGACTGTGTTTCTTAGTCTGAAACCTGCTTCTCACTCCCCTCTGGCCTTTTGTAGGTGAAGTTGGTTTTCTTGCTGAGGACCGGAGGATCAACGTGGCTGTCACCCGTGCCCGACGCCACGTGGCGGTCATCTGTGACTCCCGTACTGTCAACAACCATGCATTTTTGAAGACCCTGGTGGAGTATTTCACACAGCATGGGGAAGTACGCACGGCCTTTGAGTATCTTGACGATATTGTCCCAGAAAACTATTCCCATGAGAACTCCCAGGGTTCCAGCCACGCTGCCACCAAGCCCCAGGGACCTGCTACGTCCACCAGGACCGGAAGCCA
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Task1_train_16227
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Given this variant in gene IGHMBP2 (immunoglobulin mu DNA binding protein 2) on Chromosome 11, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Autosomal recessive distal spinal muscular atrophy 1
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GAGTACGGCGCGAGGGTGGTGCGGACACTGACGGTGCAGTACCGCATGCACCAGGCTATCATGCGCTGGGCCTCAGACACCATGTACCTTGGGCAGCTCACAGCCCACTCTTCCGTGGCAAGGCACCTCCTGAGGTGAGTAGCTCGGCACCACCCGCCGCCCCATCCTTCTGCCCTGGCTAATCCTCTGCGTCACCTGTTTCTACGCAGCAAGCTAAAGTGAAGCTTTCTGCATGAAAGTCGACTCTGAGGCTAGCTTTTTGGAAGAGAGGGTGGCCTTGCCCTGGAGAGCTGGGTCAGGCCCGCTCCCTCCCTTCTGATGTCCTGATGTGCTCATTGTCCTCCCCTACCTAAGCCTTTTCCTCGTGGGAGGGGTCGGTTCTGTTGGGTGGGGCCTCAGTGCTGCACTGTGGCCCCCTGATGTGCTCCCTCTCTGCCTGTGTGCCAGGGACCTCCCAGGTGTGGCTGCCACAGAAGAGACGGGTGTGCCCCTGCTCTTGGTGGACACCGCCGGCTGCGGGCTGTTTGAGCTGGAGGAGGAGGACGAACAGTCGAAAGGGAACCCTGGTGAGCTTGCTTGCAGATGGCCAGCTTTTTTGTTTAAACATACCTCCAGCTCTTTAAAAATAAAAGGCACTTTAATTGCCTAATTCCGGGAGGAGCTGAGAGCAGTTGTTGATGGCCGTGAAAAAACGGAGCCCCACACTGCAAGAGGCTGAGCAGCATCGTTTTCTCCAGGGTGAGCAGACCGCTCCTGGGTGAGATGGGCCTGGCAGCATTTTACGGCCTTCTCCTGAATGGTGGCCCAGCTCTGCCTGGCTGGTCTGGTGATGGGAACTGTCATTGCTCAGCTGACACCACCATCTCCCCAGTTCCACGTTGAACAGGATGCACGGCCATAGGAGTCAAAAGGCCTTCATTGCTGATGTGAAATTCAAGTTAGCTGGGCATGGCTGGTCCTGGGGCCCTGGGACACAGATGATTAGCTCCCAGGAAGCCACCTGAGTGGAGGATCAGCTGGCCATGATAGACAGAAACGTGCCCGAAACACGTGTTGGTGGTGGATGCCCACTTGGGGCGACCTTGTGCTGCTCACCCGTTCTTTCTTTCCCTCCAGGCGAAGTCCGCCTCGTCAGTTTGCACATCCAGGCTCTGGTGGACGCTGGTGTTCCAGCCCGTGACATTGCTGTGGTCTCGCCATACAACCTCCAGGTACGAGGGTTTCCTTTTGTCCCTCTACAGAGCAGCTGGGGCTCACACAACCTAGAGGGTGAAAGAAAAAGGGTGATTTGTTGGCTGTGGTGACCGAAAAGTTCAGGGGTAGGGCTGACCTTATTGTGACTGGATCCAGGGCCCAAATGATGTCGTCAGGGGCCCCTCTGCGTGTTCGTCTGCCCGCCCCACCTTGCCCCGCCCTGCCCGGTGCCCCAGCCTTCTGCACTGGCTTGTGTTCTGGCCAGATTTGCTGGGTGACCCCGGCAGCCTCAGGCTGACACAGTCCTTCCACGGGCAGCCCTGGCGGAACAGCCTGTCCTTTTCTGGCATTTCCCACAGGAGTCTCAGCCTTGAGCCTTGCTGGTCTGGCTCAGGTCGTGTTCCCATGCGTATCTCATTTGGTAGGAAAAATGTACCTTCTGGAGTATCGGGAGGATCTGTGGAAGTGGCCATCATACCTTCCTGGTGTGCAGGCATCACACATAGGGCTGTCTGAGGCTGGCGGCTGTCATAAGCCAAAAGAAATGATCAAATGCCAGGGACAGGGTGTGGTATTGGCGTGCATGCGTGCCCGTGAGGAGGGCGAACGGGAAGCCTTTCCCCATGGGGCTCCTGCAGGCTCCGCTTCCCAGGTCCTGGCTGTTTCACAGCGTGAGGCCCTCTGCTGAGCTGAAGGGCAGGGTCTTGCTGCGCTGGCATGGGTGGGTGAGGAAACCACAGCCCGGCTGGTGTTTCAGGTGGACCTGCTCAGACAGAGCCTTGTGCACAGGCACCCTGAGCTTGAAATCAAGTCTGTCGATGGCTTCCAAGGCCGAGAGAAGGAGGCCGTGATACTGTCCTTCGTCAGATCCAACAGGAAAGGTACGGAGCCCTCGCCAGAGTCCTTTGGGGACAGCACAGAAGTGAATTTATTGATTGAGGGGCATATTGGGTGTCTGCTGGGTGCCACACTGGTTTCTGGCAGTGTGCTCATGGTGCACCTTCTGTCCTTAGTAAGTTCACGTCAGGCAAAGCACAGGCAAGAGAGTCTGCAGAGGCTCAGAGGCGTGAGTGTGCTGTCAGGGAGCAGGTGGCTGGGGTGGCAGCTGGGGGCGCAGGGTGGGCTGGGAATGATCAGGACATCCTGCCGAGGAGGTGAAGCCCCCTGCAGCCCAGAGCTGGCCTTTAGCCTCCATGCACGGAGCCGCGGGGTGTGGTGGTCGTGGCTGTGGTTTCTGTGCTGCTGTGGTGTGTGGGCTTTCCCATTTGGGATGAGCATTGTTCCCAGAAGCAGGTTTAGTGAACGGGCTTTGTGAGACATTCTCAGAAGGCAGAAAGCAGGTGAGGCCTGGCTAGAAGCTATGGGGGAAAGAAGGGAAGGTCCTGGAAGGTTTCTTGTGCTTTCTCCCTGGTGCCAGCTGCAGCCACACCCCAGGCGGCCCCTGAGGCTGGGCTTAGAAGGAAAGGAGCGACAGAACCCAGTCGGGTTCCCCAGAGCCCCACTCAGTCAGCCGTGGCAGCCAGATGCCAGGGCAGGTGTGGCATCACGGTGCCACGCGTGGCCGGGCACCCGTGTGGATGGTGGGCCACGCGCAGGGGACTACACTTTTGGTGGTGGTTACTGATAAGGGCGTAGGAGCCTGACTGTGTTTCTTAGTCTGAAACCTGCTTCTCACTCCCCTCTGGCCTTTTGTAGGTGAAGTTGGTTTTCTTGCTGAGGACCGGAGGATCAACGTGGCTGTCACCCGTGCCCGACGCCACGTGGCGGTCATCTGTGACTCCCGTACTGTCAACAACCATGCATTTTTGAAGACCCTGGTGGAGTATTTCACACAGCATGGGGAAGTACGCACGGCCTTTGAGTATCTTGACGATATTGTCCCAGAAAACTATTCCCATGAGAACTCCCAGGGTTCCAGCCACGCTGCCACCAAGCCCCAGGGACCTGCTACGTCCACCAGGACCGGAAGCCAGCGGCAGGAGGGAGGCCAGGAGGCTGCAGCACCTGCCAGACAGGGCCGGAAGAAGCCGGCTGGGAAGTCTCTGGCCTCTGAAGCTCCATCTCAGCCCAGCCTCAACGGAGGCAGCCCAGAGGGAGTGGAGAGCCAAGATGGCGTGGACCACTTCCGGGCCATGATAGTGGAGTTCATGGCCAGCAAGAAGATGCAGTTGGAGTTTCCTCCTTCCCTCAATTCCCACGACAGGCTGCGGGTCCACCAAATAGCCGAGGAGCACGGGCTGAGGCACGACAGTTCCGGGGAAGGGAAGAGGAGGTTCATCACTGTGAGCAAGAGGGCCCCGCGACCCCGAGCAGCCCTGGGACCCCCAGCAGGGACCGGTGGCCCAGCCCCTCTCCAGCCAGTGCCCCCTACCCCTGCGCAGACAGAGCAGCCTCCCAGGGAGCAGCGTGGCCCAGACCAGCCTGATCTGAGGACGCTGCACCTGGAGAGACTGCAGAGGGTCAGGAGCGCGCAGGGGCAGCCCGCCAGCAAGGAGCAGCAGGCCTCAGGGCAGCAGAAACTTCCAGAAAAGAAAAAGAAAAAAGCCAAAGGTAAGTCAACTAATAAGAACTTGGGGCAGTGTCCCCTCACTGGGGTGCTGGCCCCACTTGGAGCCCACCTGCCACCATCAACAGAAGGAAGGGCTTCCTCCTGGTGGCACCGTGCCCGTGTCATTTTAGCTTTATTTTCAGTCATGCCACTCCCAGCTCCGTCTGGGCTCCCCTAGGTCGGTGATCAGGTCACGGGCACCTTCTTTTCCCAGACCCTGTGTGGGACTCGGCAAGTAGGCAGCACTCAGAGCATGTCTGCAGCAGCAGGAGGGGCCTGGAAGAGCAAACATGGATGGCTCCCTGGAGCCCCTCGGGAATGGAGCGATCACGGGGTCCCATGCAACATGTGGCC
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GAGTACGGCGCGAGGGTGGTGCGGACACTGACGGTGCAGTACCGCATGCACCAGGCTATCATGCGCTGGGCCTCAGACACCATGTACCTTGGGCAGCTCACAGCCCACTCTTCCGTGGCAAGGCACCTCCTGAGGTGAGTAGCTCGGCACCACCCGCCGCCCCATCCTTCTGCCCTGGCTAATCCTCTGCGTCACCTGTTTCTACGCAGCAAGCTAAAGTGAAGCTTTCTGCATGAAAGTCGACTCTGAGGCTAGCTTTTTGGAAGAGAGGGTGGCCTTGCCCTGGAGAGCTGGGTCAGGCCCGCTCCCTCCCTTCTGATGTCCTGATGTGCTCATTGTCCTCCCCTACCTAAGCCTTTTCCTCGTGGGAGGGGTCGGTTCTGTTGGGTGGGGCCTCAGTGCTGCACTGTGGCCCCCTGATGTGCTCCCTCTCTGCCTGTGTGCCAGGGACCTCCCAGGTGTGGCTGCCACAGAAGAGACGGGTGTGCCCCTGCTCTTGGTGGACACCGCCGGCTGCGGGCTGTTTGAGCTGGAGGAGGAGGACGAACAGTCGAAAGGGAACCCTGGTGAGCTTGCTTGCAGATGGCCAGCTTTTTTGTTTAAACATACCTCCAGCTCTTTAAAAATAAAAGGCACTTTAATTGCCTAATTCCGGGAGGAGCTGAGAGCAGTTGTTGATGGCCGTGAAAAAACGGAGCCCCACACTGCAAGAGGCTGAGCAGCATCGTTTTCTCCAGGGTGAGCAGACCGCTCCTGGGTGAGATGGGCCTGGCAGCATTTTACGGCCTTCTCCTGAATGGTGGCCCAGCTCTGCCTGGCTGGTCTGGTGATGGGAACTGTCATTGCTCAGCTGACACCACCATCTCCCCAGTTCCACGTTGAACAGGATGCACGGCCATAGGAGTCAAAAGGCCTTCATTGCTGATGTGAAATTCAAGTTAGCTGGGCATGGCTGGTCCTGGGGCCCTGGGACACAGATGATTAGCTCCCAGGAAGCCACCTGAGTGGAGGATCAGCTGGCCATGATAGACAGAAACGTGCCCGAAACACGTGTTGGTGGTGGATGCCCACTTGGGGCGACCTTGTGCTGCTCACCCGTTCTTTCTTTCCCTCCAGGCGAAGTCCGCCTCGTCAGTTTGCACATCCAGGCTCTGGTGGACGCTGGTGTTCCAGCCCGTGACATTGCTGTGGTCTCGCCATACAACCTCCAGGTACGAGGGTTTCCTTTTGTCCCTCTACAGAGCAGCTGGGGCTCACACAACCTAGAGGGTGAAAGAAAAAGGGTGATTTGTTGGCTGTGGTGACCGAAAAGTTCAGGGGTAGGGCTGACCTTATTGTGACTGGATCCAGGGCCCAAATGATGTCGTCAGGGGCCCCTCTGCGTGTTCGTCTGCCCGCCCCACCTTGCCCCGCCCTGCCCGGTGCCCCAGCCTTCTGCACTGGCTTGTGTTCTGGCCAGATTTGCTGGGTGACCCCGGCAGCCTCAGGCTGACACAGTCCTTCCACGGGCAGCCCTGGCGGAACAGCCTGTCCTTTTCTGGCATTTCCCACAGGAGTCTCAGCCTTGAGCCTTGCTGGTCTGGCTCAGGTCGTGTTCCCATGCGTATCTCATTTGGTAGGAAAAATGTACCTTCTGGAGTATCGGGAGGATCTGTGGAAGTGGCCATCATACCTTCCTGGTGTGCAGGCATCACACATAGGGCTGTCTGAGGCTGGCGGCTGTCATAAGCCAAAAGAAATGATCAAATGCCAGGGACAGGGTGTGGTATTGGCGTGCATGCGTGCCCGTGAGGAGGGCGAACGGGAAGCCTTTCCCCATGGGGCTCCTGCAGGCTCCGCTTCCCAGGTCCTGGCTGTTTCACAGCGTGAGGCCCTCTGCTGAGCTGAAGGGCAGGGTCTTGCTGCGCTGGCATGGGTGGGTGAGGAAACCACAGCCCGGCTGGTGTTTCAGGTGGACCTGCTCAGACAGAGCCTTGTGCACAGGCACCCTGAGCTTGAAATCAAGTCTGTCGATGGCTTCCAAGGCCGAGAGAAGGAGGCCGTGATACGGTCCTTCGTCAGATCCAACAGGAAAGGTACGGAGCCCTCGCCAGAGTCCTTTGGGGACAGCACAGAAGTGAATTTATTGATTGAGGGGCATATTGGGTGTCTGCTGGGTGCCACACTGGTTTCTGGCAGTGTGCTCATGGTGCACCTTCTGTCCTTAGTAAGTTCACGTCAGGCAAAGCACAGGCAAGAGAGTCTGCAGAGGCTCAGAGGCGTGAGTGTGCTGTCAGGGAGCAGGTGGCTGGGGTGGCAGCTGGGGGCGCAGGGTGGGCTGGGAATGATCAGGACATCCTGCCGAGGAGGTGAAGCCCCCTGCAGCCCAGAGCTGGCCTTTAGCCTCCATGCACGGAGCCGCGGGGTGTGGTGGTCGTGGCTGTGGTTTCTGTGCTGCTGTGGTGTGTGGGCTTTCCCATTTGGGATGAGCATTGTTCCCAGAAGCAGGTTTAGTGAACGGGCTTTGTGAGACATTCTCAGAAGGCAGAAAGCAGGTGAGGCCTGGCTAGAAGCTATGGGGGAAAGAAGGGAAGGTCCTGGAAGGTTTCTTGTGCTTTCTCCCTGGTGCCAGCTGCAGCCACACCCCAGGCGGCCCCTGAGGCTGGGCTTAGAAGGAAAGGAGCGACAGAACCCAGTCGGGTTCCCCAGAGCCCCACTCAGTCAGCCGTGGCAGCCAGATGCCAGGGCAGGTGTGGCATCACGGTGCCACGCGTGGCCGGGCACCCGTGTGGATGGTGGGCCACGCGCAGGGGACTACACTTTTGGTGGTGGTTACTGATAAGGGCGTAGGAGCCTGACTGTGTTTCTTAGTCTGAAACCTGCTTCTCACTCCCCTCTGGCCTTTTGTAGGTGAAGTTGGTTTTCTTGCTGAGGACCGGAGGATCAACGTGGCTGTCACCCGTGCCCGACGCCACGTGGCGGTCATCTGTGACTCCCGTACTGTCAACAACCATGCATTTTTGAAGACCCTGGTGGAGTATTTCACACAGCATGGGGAAGTACGCACGGCCTTTGAGTATCTTGACGATATTGTCCCAGAAAACTATTCCCATGAGAACTCCCAGGGTTCCAGCCACGCTGCCACCAAGCCCCAGGGACCTGCTACGTCCACCAGGACCGGAAGCCAGCGGCAGGAGGGAGGCCAGGAGGCTGCAGCACCTGCCAGACAGGGCCGGAAGAAGCCGGCTGGGAAGTCTCTGGCCTCTGAAGCTCCATCTCAGCCCAGCCTCAACGGAGGCAGCCCAGAGGGAGTGGAGAGCCAAGATGGCGTGGACCACTTCCGGGCCATGATAGTGGAGTTCATGGCCAGCAAGAAGATGCAGTTGGAGTTTCCTCCTTCCCTCAATTCCCACGACAGGCTGCGGGTCCACCAAATAGCCGAGGAGCACGGGCTGAGGCACGACAGTTCCGGGGAAGGGAAGAGGAGGTTCATCACTGTGAGCAAGAGGGCCCCGCGACCCCGAGCAGCCCTGGGACCCCCAGCAGGGACCGGTGGCCCAGCCCCTCTCCAGCCAGTGCCCCCTACCCCTGCGCAGACAGAGCAGCCTCCCAGGGAGCAGCGTGGCCCAGACCAGCCTGATCTGAGGACGCTGCACCTGGAGAGACTGCAGAGGGTCAGGAGCGCGCAGGGGCAGCCCGCCAGCAAGGAGCAGCAGGCCTCAGGGCAGCAGAAACTTCCAGAAAAGAAAAAGAAAAAAGCCAAAGGTAAGTCAACTAATAAGAACTTGGGGCAGTGTCCCCTCACTGGGGTGCTGGCCCCACTTGGAGCCCACCTGCCACCATCAACAGAAGGAAGGGCTTCCTCCTGGTGGCACCGTGCCCGTGTCATTTTAGCTTTATTTTCAGTCATGCCACTCCCAGCTCCGTCTGGGCTCCCCTAGGTCGGTGATCAGGTCACGGGCACCTTCTTTTCCCAGACCCTGTGTGGGACTCGGCAAGTAGGCAGCACTCAGAGCATGTCTGCAGCAGCAGGAGGGGCCTGGAAGAGCAAACATGGATGGCTCCCTGGAGCCCCTCGGGAATGGAGCGATCACGGGGTCCCATGCAACATGTGGCC
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Task1_train_16228
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Gene IGHMBP2 (immunoglobulin mu DNA binding protein 2) 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; Charcot-Marie-Tooth disease axonal type 2S
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GAGTACGGCGCGAGGGTGGTGCGGACACTGACGGTGCAGTACCGCATGCACCAGGCTATCATGCGCTGGGCCTCAGACACCATGTACCTTGGGCAGCTCACAGCCCACTCTTCCGTGGCAAGGCACCTCCTGAGGTGAGTAGCTCGGCACCACCCGCCGCCCCATCCTTCTGCCCTGGCTAATCCTCTGCGTCACCTGTTTCTACGCAGCAAGCTAAAGTGAAGCTTTCTGCATGAAAGTCGACTCTGAGGCTAGCTTTTTGGAAGAGAGGGTGGCCTTGCCCTGGAGAGCTGGGTCAGGCCCGCTCCCTCCCTTCTGATGTCCTGATGTGCTCATTGTCCTCCCCTACCTAAGCCTTTTCCTCGTGGGAGGGGTCGGTTCTGTTGGGTGGGGCCTCAGTGCTGCACTGTGGCCCCCTGATGTGCTCCCTCTCTGCCTGTGTGCCAGGGACCTCCCAGGTGTGGCTGCCACAGAAGAGACGGGTGTGCCCCTGCTCTTGGTGGACACCGCCGGCTGCGGGCTGTTTGAGCTGGAGGAGGAGGACGAACAGTCGAAAGGGAACCCTGGTGAGCTTGCTTGCAGATGGCCAGCTTTTTTGTTTAAACATACCTCCAGCTCTTTAAAAATAAAAGGCACTTTAATTGCCTAATTCCGGGAGGAGCTGAGAGCAGTTGTTGATGGCCGTGAAAAAACGGAGCCCCACACTGCAAGAGGCTGAGCAGCATCGTTTTCTCCAGGGTGAGCAGACCGCTCCTGGGTGAGATGGGCCTGGCAGCATTTTACGGCCTTCTCCTGAATGGTGGCCCAGCTCTGCCTGGCTGGTCTGGTGATGGGAACTGTCATTGCTCAGCTGACACCACCATCTCCCCAGTTCCACGTTGAACAGGATGCACGGCCATAGGAGTCAAAAGGCCTTCATTGCTGATGTGAAATTCAAGTTAGCTGGGCATGGCTGGTCCTGGGGCCCTGGGACACAGATGATTAGCTCCCAGGAAGCCACCTGAGTGGAGGATCAGCTGGCCATGATAGACAGAAACGTGCCCGAAACACGTGTTGGTGGTGGATGCCCACTTGGGGCGACCTTGTGCTGCTCACCCGTTCTTTCTTTCCCTCCAGGCGAAGTCCGCCTCGTCAGTTTGCACATCCAGGCTCTGGTGGACGCTGGTGTTCCAGCCCGTGACATTGCTGTGGTCTCGCCATACAACCTCCAGGTACGAGGGTTTCCTTTTGTCCCTCTACAGAGCAGCTGGGGCTCACACAACCTAGAGGGTGAAAGAAAAAGGGTGATTTGTTGGCTGTGGTGACCGAAAAGTTCAGGGGTAGGGCTGACCTTATTGTGACTGGATCCAGGGCCCAAATGATGTCGTCAGGGGCCCCTCTGCGTGTTCGTCTGCCCGCCCCACCTTGCCCCGCCCTGCCCGGTGCCCCAGCCTTCTGCACTGGCTTGTGTTCTGGCCAGATTTGCTGGGTGACCCCGGCAGCCTCAGGCTGACACAGTCCTTCCACGGGCAGCCCTGGCGGAACAGCCTGTCCTTTTCTGGCATTTCCCACAGGAGTCTCAGCCTTGAGCCTTGCTGGTCTGGCTCAGGTCGTGTTCCCATGCGTATCTCATTTGGTAGGAAAAATGTACCTTCTGGAGTATCGGGAGGATCTGTGGAAGTGGCCATCATACCTTCCTGGTGTGCAGGCATCACACATAGGGCTGTCTGAGGCTGGCGGCTGTCATAAGCCAAAAGAAATGATCAAATGCCAGGGACAGGGTGTGGTATTGGCGTGCATGCGTGCCCGTGAGGAGGGCGAACGGGAAGCCTTTCCCCATGGGGCTCCTGCAGGCTCCGCTTCCCAGGTCCTGGCTGTTTCACAGCGTGAGGCCCTCTGCTGAGCTGAAGGGCAGGGTCTTGCTGCGCTGGCATGGGTGGGTGAGGAAACCACAGCCCGGCTGGTGTTTCAGGTGGACCTGCTCAGACAGAGCCTTGTGCACAGGCACCCTGAGCTTGAAATCAAGTCTGTCGATGGCTTCCAAGGCCGAGAGAAGGAGGCCGTGATACTGTCCTTCGTCAGATCCAACAGGAAAGGTACGGAGCCCTCGCCAGAGTCCTTTGGGGACAGCACAGAAGTGAATTTATTGATTGAGGGGCATATTGGGTGTCTGCTGGGTGCCACACTGGTTTCTGGCAGTGTGCTCATGGTGCACCTTCTGTCCTTAGTAAGTTCACGTCAGGCAAAGCACAGGCAAGAGAGTCTGCAGAGGCTCAGAGGCGTGAGTGTGCTGTCAGGGAGCAGGTGGCTGGGGTGGCAGCTGGGGGCGCAGGGTGGGCTGGGAATGATCAGGACATCCTGCCGAGGAGGTGAAGCCCCCTGCAGCCCAGAGCTGGCCTTTAGCCTCCATGCACGGAGCCGCGGGGTGTGGTGGTCGTGGCTGTGGTTTCTGTGCTGCTGTGGTGTGTGGGCTTTCCCATTTGGGATGAGCATTGTTCCCAGAAGCAGGTTTAGTGAACGGGCTTTGTGAGACATTCTCAGAAGGCAGAAAGCAGGTGAGGCCTGGCTAGAAGCTATGGGGGAAAGAAGGGAAGGTCCTGGAAGGTTTCTTGTGCTTTCTCCCTGGTGCCAGCTGCAGCCACACCCCAGGCGGCCCCTGAGGCTGGGCTTAGAAGGAAAGGAGCGACAGAACCCAGTCGGGTTCCCCAGAGCCCCACTCAGTCAGCCGTGGCAGCCAGATGCCAGGGCAGGTGTGGCATCACGGTGCCACGCGTGGCCGGGCACCCGTGTGGATGGTGGGCCACGCGCAGGGGACTACACTTTTGGTGGTGGTTACTGATAAGGGCGTAGGAGCCTGACTGTGTTTCTTAGTCTGAAACCTGCTTCTCACTCCCCTCTGGCCTTTTGTAGGTGAAGTTGGTTTTCTTGCTGAGGACCGGAGGATCAACGTGGCTGTCACCCGTGCCCGACGCCACGTGGCGGTCATCTGTGACTCCCGTACTGTCAACAACCATGCATTTTTGAAGACCCTGGTGGAGTATTTCACACAGCATGGGGAAGTACGCACGGCCTTTGAGTATCTTGACGATATTGTCCCAGAAAACTATTCCCATGAGAACTCCCAGGGTTCCAGCCACGCTGCCACCAAGCCCCAGGGACCTGCTACGTCCACCAGGACCGGAAGCCAGCGGCAGGAGGGAGGCCAGGAGGCTGCAGCACCTGCCAGACAGGGCCGGAAGAAGCCGGCTGGGAAGTCTCTGGCCTCTGAAGCTCCATCTCAGCCCAGCCTCAACGGAGGCAGCCCAGAGGGAGTGGAGAGCCAAGATGGCGTGGACCACTTCCGGGCCATGATAGTGGAGTTCATGGCCAGCAAGAAGATGCAGTTGGAGTTTCCTCCTTCCCTCAATTCCCACGACAGGCTGCGGGTCCACCAAATAGCCGAGGAGCACGGGCTGAGGCACGACAGTTCCGGGGAAGGGAAGAGGAGGTTCATCACTGTGAGCAAGAGGGCCCCGCGACCCCGAGCAGCCCTGGGACCCCCAGCAGGGACCGGTGGCCCAGCCCCTCTCCAGCCAGTGCCCCCTACCCCTGCGCAGACAGAGCAGCCTCCCAGGGAGCAGCGTGGCCCAGACCAGCCTGATCTGAGGACGCTGCACCTGGAGAGACTGCAGAGGGTCAGGAGCGCGCAGGGGCAGCCCGCCAGCAAGGAGCAGCAGGCCTCAGGGCAGCAGAAACTTCCAGAAAAGAAAAAGAAAAAAGCCAAAGGTAAGTCAACTAATAAGAACTTGGGGCAGTGTCCCCTCACTGGGGTGCTGGCCCCACTTGGAGCCCACCTGCCACCATCAACAGAAGGAAGGGCTTCCTCCTGGTGGCACCGTGCCCGTGTCATTTTAGCTTTATTTTCAGTCATGCCACTCCCAGCTCCGTCTGGGCTCCCCTAGGTCGGTGATCAGGTCACGGGCACCTTCTTTTCCCAGACCCTGTGTGGGACTCGGCAAGTAGGCAGCACTCAGAGCATGTCTGCAGCAGCAGGAGGGGCCTGGAAGAGCAAACATGGATGGCTCCCTGGAGCCCCTCGGGAATGGAGCGATCACGGGGTCCCATGCAACATGTGGCC
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GAGTACGGCGCGAGGGTGGTGCGGACACTGACGGTGCAGTACCGCATGCACCAGGCTATCATGCGCTGGGCCTCAGACACCATGTACCTTGGGCAGCTCACAGCCCACTCTTCCGTGGCAAGGCACCTCCTGAGGTGAGTAGCTCGGCACCACCCGCCGCCCCATCCTTCTGCCCTGGCTAATCCTCTGCGTCACCTGTTTCTACGCAGCAAGCTAAAGTGAAGCTTTCTGCATGAAAGTCGACTCTGAGGCTAGCTTTTTGGAAGAGAGGGTGGCCTTGCCCTGGAGAGCTGGGTCAGGCCCGCTCCCTCCCTTCTGATGTCCTGATGTGCTCATTGTCCTCCCCTACCTAAGCCTTTTCCTCGTGGGAGGGGTCGGTTCTGTTGGGTGGGGCCTCAGTGCTGCACTGTGGCCCCCTGATGTGCTCCCTCTCTGCCTGTGTGCCAGGGACCTCCCAGGTGTGGCTGCCACAGAAGAGACGGGTGTGCCCCTGCTCTTGGTGGACACCGCCGGCTGCGGGCTGTTTGAGCTGGAGGAGGAGGACGAACAGTCGAAAGGGAACCCTGGTGAGCTTGCTTGCAGATGGCCAGCTTTTTTGTTTAAACATACCTCCAGCTCTTTAAAAATAAAAGGCACTTTAATTGCCTAATTCCGGGAGGAGCTGAGAGCAGTTGTTGATGGCCGTGAAAAAACGGAGCCCCACACTGCAAGAGGCTGAGCAGCATCGTTTTCTCCAGGGTGAGCAGACCGCTCCTGGGTGAGATGGGCCTGGCAGCATTTTACGGCCTTCTCCTGAATGGTGGCCCAGCTCTGCCTGGCTGGTCTGGTGATGGGAACTGTCATTGCTCAGCTGACACCACCATCTCCCCAGTTCCACGTTGAACAGGATGCACGGCCATAGGAGTCAAAAGGCCTTCATTGCTGATGTGAAATTCAAGTTAGCTGGGCATGGCTGGTCCTGGGGCCCTGGGACACAGATGATTAGCTCCCAGGAAGCCACCTGAGTGGAGGATCAGCTGGCCATGATAGACAGAAACGTGCCCGAAACACGTGTTGGTGGTGGATGCCCACTTGGGGCGACCTTGTGCTGCTCACCCGTTCTTTCTTTCCCTCCAGGCGAAGTCCGCCTCGTCAGTTTGCACATCCAGGCTCTGGTGGACGCTGGTGTTCCAGCCCGTGACATTGCTGTGGTCTCGCCATACAACCTCCAGGTACGAGGGTTTCCTTTTGTCCCTCTACAGAGCAGCTGGGGCTCACACAACCTAGAGGGTGAAAGAAAAAGGGTGATTTGTTGGCTGTGGTGACCGAAAAGTTCAGGGGTAGGGCTGACCTTATTGTGACTGGATCCAGGGCCCAAATGATGTCGTCAGGGGCCCCTCTGCGTGTTCGTCTGCCCGCCCCACCTTGCCCCGCCCTGCCCGGTGCCCCAGCCTTCTGCACTGGCTTGTGTTCTGGCCAGATTTGCTGGGTGACCCCGGCAGCCTCAGGCTGACACAGTCCTTCCACGGGCAGCCCTGGCGGAACAGCCTGTCCTTTTCTGGCATTTCCCACAGGAGTCTCAGCCTTGAGCCTTGCTGGTCTGGCTCAGGTCGTGTTCCCATGCGTATCTCATTTGGTAGGAAAAATGTACCTTCTGGAGTATCGGGAGGATCTGTGGAAGTGGCCATCATACCTTCCTGGTGTGCAGGCATCACACATAGGGCTGTCTGAGGCTGGCGGCTGTCATAAGCCAAAAGAAATGATCAAATGCCAGGGACAGGGTGTGGTATTGGCGTGCATGCGTGCCCGTGAGGAGGGCGAACGGGAAGCCTTTCCCCATGGGGCTCCTGCAGGCTCCGCTTCCCAGGTCCTGGCTGTTTCACAGCGTGAGGCCCTCTGCTGAGCTGAAGGGCAGGGTCTTGCTGCGCTGGCATGGGTGGGTGAGGAAACCACAGCCCGGCTGGTGTTTCAGGTGGACCTGCTCAGACAGAGCCTTGTGCACAGGCACCCTGAGCTTGAAATCAAGTCTGTCGATGGCTTCCAAGGCCGAGAGAAGGAGGCCGTGATACGGTCCTTCGTCAGATCCAACAGGAAAGGTACGGAGCCCTCGCCAGAGTCCTTTGGGGACAGCACAGAAGTGAATTTATTGATTGAGGGGCATATTGGGTGTCTGCTGGGTGCCACACTGGTTTCTGGCAGTGTGCTCATGGTGCACCTTCTGTCCTTAGTAAGTTCACGTCAGGCAAAGCACAGGCAAGAGAGTCTGCAGAGGCTCAGAGGCGTGAGTGTGCTGTCAGGGAGCAGGTGGCTGGGGTGGCAGCTGGGGGCGCAGGGTGGGCTGGGAATGATCAGGACATCCTGCCGAGGAGGTGAAGCCCCCTGCAGCCCAGAGCTGGCCTTTAGCCTCCATGCACGGAGCCGCGGGGTGTGGTGGTCGTGGCTGTGGTTTCTGTGCTGCTGTGGTGTGTGGGCTTTCCCATTTGGGATGAGCATTGTTCCCAGAAGCAGGTTTAGTGAACGGGCTTTGTGAGACATTCTCAGAAGGCAGAAAGCAGGTGAGGCCTGGCTAGAAGCTATGGGGGAAAGAAGGGAAGGTCCTGGAAGGTTTCTTGTGCTTTCTCCCTGGTGCCAGCTGCAGCCACACCCCAGGCGGCCCCTGAGGCTGGGCTTAGAAGGAAAGGAGCGACAGAACCCAGTCGGGTTCCCCAGAGCCCCACTCAGTCAGCCGTGGCAGCCAGATGCCAGGGCAGGTGTGGCATCACGGTGCCACGCGTGGCCGGGCACCCGTGTGGATGGTGGGCCACGCGCAGGGGACTACACTTTTGGTGGTGGTTACTGATAAGGGCGTAGGAGCCTGACTGTGTTTCTTAGTCTGAAACCTGCTTCTCACTCCCCTCTGGCCTTTTGTAGGTGAAGTTGGTTTTCTTGCTGAGGACCGGAGGATCAACGTGGCTGTCACCCGTGCCCGACGCCACGTGGCGGTCATCTGTGACTCCCGTACTGTCAACAACCATGCATTTTTGAAGACCCTGGTGGAGTATTTCACACAGCATGGGGAAGTACGCACGGCCTTTGAGTATCTTGACGATATTGTCCCAGAAAACTATTCCCATGAGAACTCCCAGGGTTCCAGCCACGCTGCCACCAAGCCCCAGGGACCTGCTACGTCCACCAGGACCGGAAGCCAGCGGCAGGAGGGAGGCCAGGAGGCTGCAGCACCTGCCAGACAGGGCCGGAAGAAGCCGGCTGGGAAGTCTCTGGCCTCTGAAGCTCCATCTCAGCCCAGCCTCAACGGAGGCAGCCCAGAGGGAGTGGAGAGCCAAGATGGCGTGGACCACTTCCGGGCCATGATAGTGGAGTTCATGGCCAGCAAGAAGATGCAGTTGGAGTTTCCTCCTTCCCTCAATTCCCACGACAGGCTGCGGGTCCACCAAATAGCCGAGGAGCACGGGCTGAGGCACGACAGTTCCGGGGAAGGGAAGAGGAGGTTCATCACTGTGAGCAAGAGGGCCCCGCGACCCCGAGCAGCCCTGGGACCCCCAGCAGGGACCGGTGGCCCAGCCCCTCTCCAGCCAGTGCCCCCTACCCCTGCGCAGACAGAGCAGCCTCCCAGGGAGCAGCGTGGCCCAGACCAGCCTGATCTGAGGACGCTGCACCTGGAGAGACTGCAGAGGGTCAGGAGCGCGCAGGGGCAGCCCGCCAGCAAGGAGCAGCAGGCCTCAGGGCAGCAGAAACTTCCAGAAAAGAAAAAGAAAAAAGCCAAAGGTAAGTCAACTAATAAGAACTTGGGGCAGTGTCCCCTCACTGGGGTGCTGGCCCCACTTGGAGCCCACCTGCCACCATCAACAGAAGGAAGGGCTTCCTCCTGGTGGCACCGTGCCCGTGTCATTTTAGCTTTATTTTCAGTCATGCCACTCCCAGCTCCGTCTGGGCTCCCCTAGGTCGGTGATCAGGTCACGGGCACCTTCTTTTCCCAGACCCTGTGTGGGACTCGGCAAGTAGGCAGCACTCAGAGCATGTCTGCAGCAGCAGGAGGGGCCTGGAAGAGCAAACATGGATGGCTCCCTGGAGCCCCTCGGGAATGGAGCGATCACGGGGTCCCATGCAACATGTGGCC
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Task1_train_16229
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Gene IGHMBP2 (immunoglobulin mu DNA binding protein 2), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; not specified
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GAGTACGGCGCGAGGGTGGTGCGGACACTGACGGTGCAGTACCGCATGCACCAGGCTATCATGCGCTGGGCCTCAGACACCATGTACCTTGGGCAGCTCACAGCCCACTCTTCCGTGGCAAGGCACCTCCTGAGGTGAGTAGCTCGGCACCACCCGCCGCCCCATCCTTCTGCCCTGGCTAATCCTCTGCGTCACCTGTTTCTACGCAGCAAGCTAAAGTGAAGCTTTCTGCATGAAAGTCGACTCTGAGGCTAGCTTTTTGGAAGAGAGGGTGGCCTTGCCCTGGAGAGCTGGGTCAGGCCCGCTCCCTCCCTTCTGATGTCCTGATGTGCTCATTGTCCTCCCCTACCTAAGCCTTTTCCTCGTGGGAGGGGTCGGTTCTGTTGGGTGGGGCCTCAGTGCTGCACTGTGGCCCCCTGATGTGCTCCCTCTCTGCCTGTGTGCCAGGGACCTCCCAGGTGTGGCTGCCACAGAAGAGACGGGTGTGCCCCTGCTCTTGGTGGACACCGCCGGCTGCGGGCTGTTTGAGCTGGAGGAGGAGGACGAACAGTCGAAAGGGAACCCTGGTGAGCTTGCTTGCAGATGGCCAGCTTTTTTGTTTAAACATACCTCCAGCTCTTTAAAAATAAAAGGCACTTTAATTGCCTAATTCCGGGAGGAGCTGAGAGCAGTTGTTGATGGCCGTGAAAAAACGGAGCCCCACACTGCAAGAGGCTGAGCAGCATCGTTTTCTCCAGGGTGAGCAGACCGCTCCTGGGTGAGATGGGCCTGGCAGCATTTTACGGCCTTCTCCTGAATGGTGGCCCAGCTCTGCCTGGCTGGTCTGGTGATGGGAACTGTCATTGCTCAGCTGACACCACCATCTCCCCAGTTCCACGTTGAACAGGATGCACGGCCATAGGAGTCAAAAGGCCTTCATTGCTGATGTGAAATTCAAGTTAGCTGGGCATGGCTGGTCCTGGGGCCCTGGGACACAGATGATTAGCTCCCAGGAAGCCACCTGAGTGGAGGATCAGCTGGCCATGATAGACAGAAACGTGCCCGAAACACGTGTTGGTGGTGGATGCCCACTTGGGGCGACCTTGTGCTGCTCACCCGTTCTTTCTTTCCCTCCAGGCGAAGTCCGCCTCGTCAGTTTGCACATCCAGGCTCTGGTGGACGCTGGTGTTCCAGCCCGTGACATTGCTGTGGTCTCGCCATACAACCTCCAGGTACGAGGGTTTCCTTTTGTCCCTCTACAGAGCAGCTGGGGCTCACACAACCTAGAGGGTGAAAGAAAAAGGGTGATTTGTTGGCTGTGGTGACCGAAAAGTTCAGGGGTAGGGCTGACCTTATTGTGACTGGATCCAGGGCCCAAATGATGTCGTCAGGGGCCCCTCTGCGTGTTCGTCTGCCCGCCCCACCTTGCCCCGCCCTGCCCGGTGCCCCAGCCTTCTGCACTGGCTTGTGTTCTGGCCAGATTTGCTGGGTGACCCCGGCAGCCTCAGGCTGACACAGTCCTTCCACGGGCAGCCCTGGCGGAACAGCCTGTCCTTTTCTGGCATTTCCCACAGGAGTCTCAGCCTTGAGCCTTGCTGGTCTGGCTCAGGTCGTGTTCCCATGCGTATCTCATTTGGTAGGAAAAATGTACCTTCTGGAGTATCGGGAGGATCTGTGGAAGTGGCCATCATACCTTCCTGGTGTGCAGGCATCACACATAGGGCTGTCTGAGGCTGGCGGCTGTCATAAGCCAAAAGAAATGATCAAATGCCAGGGACAGGGTGTGGTATTGGCGTGCATGCGTGCCCGTGAGGAGGGCGAACGGGAAGCCTTTCCCCATGGGGCTCCTGCAGGCTCCGCTTCCCAGGTCCTGGCTGTTTCACAGCGTGAGGCCCTCTGCTGAGCTGAAGGGCAGGGTCTTGCTGCGCTGGCATGGGTGGGTGAGGAAACCACAGCCCGGCTGGTGTTTCAGGTGGACCTGCTCAGACAGAGCCTTGTGCACAGGCACCCTGAGCTTGAAATCAAGTCTGTCGATGGCTTCCAAGGCCGAGAGAAGGAGGCCGTGATACTGTCCTTCGTCAGATCCAACAGGAAAGGTACGGAGCCCTCGCCAGAGTCCTTTGGGGACAGCACAGAAGTGAATTTATTGATTGAGGGGCATATTGGGTGTCTGCTGGGTGCCACACTGGTTTCTGGCAGTGTGCTCATGGTGCACCTTCTGTCCTTAGTAAGTTCACGTCAGGCAAAGCACAGGCAAGAGAGTCTGCAGAGGCTCAGAGGCGTGAGTGTGCTGTCAGGGAGCAGGTGGCTGGGGTGGCAGCTGGGGGCGCAGGGTGGGCTGGGAATGATCAGGACATCCTGCCGAGGAGGTGAAGCCCCCTGCAGCCCAGAGCTGGCCTTTAGCCTCCATGCACGGAGCCGCGGGGTGTGGTGGTCGTGGCTGTGGTTTCTGTGCTGCTGTGGTGTGTGGGCTTTCCCATTTGGGATGAGCATTGTTCCCAGAAGCAGGTTTAGTGAACGGGCTTTGTGAGACATTCTCAGAAGGCAGAAAGCAGGTGAGGCCTGGCTAGAAGCTATGGGGGAAAGAAGGGAAGGTCCTGGAAGGTTTCTTGTGCTTTCTCCCTGGTGCCAGCTGCAGCCACACCCCAGGCGGCCCCTGAGGCTGGGCTTAGAAGGAAAGGAGCGACAGAACCCAGTCGGGTTCCCCAGAGCCCCACTCAGTCAGCCGTGGCAGCCAGATGCCAGGGCAGGTGTGGCATCACGGTGCCACGCGTGGCCGGGCACCCGTGTGGATGGTGGGCCACGCGCAGGGGACTACACTTTTGGTGGTGGTTACTGATAAGGGCGTAGGAGCCTGACTGTGTTTCTTAGTCTGAAACCTGCTTCTCACTCCCCTCTGGCCTTTTGTAGGTGAAGTTGGTTTTCTTGCTGAGGACCGGAGGATCAACGTGGCTGTCACCCGTGCCCGACGCCACGTGGCGGTCATCTGTGACTCCCGTACTGTCAACAACCATGCATTTTTGAAGACCCTGGTGGAGTATTTCACACAGCATGGGGAAGTACGCACGGCCTTTGAGTATCTTGACGATATTGTCCCAGAAAACTATTCCCATGAGAACTCCCAGGGTTCCAGCCACGCTGCCACCAAGCCCCAGGGACCTGCTACGTCCACCAGGACCGGAAGCCAGCGGCAGGAGGGAGGCCAGGAGGCTGCAGCACCTGCCAGACAGGGCCGGAAGAAGCCGGCTGGGAAGTCTCTGGCCTCTGAAGCTCCATCTCAGCCCAGCCTCAACGGAGGCAGCCCAGAGGGAGTGGAGAGCCAAGATGGCGTGGACCACTTCCGGGCCATGATAGTGGAGTTCATGGCCAGCAAGAAGATGCAGTTGGAGTTTCCTCCTTCCCTCAATTCCCACGACAGGCTGCGGGTCCACCAAATAGCCGAGGAGCACGGGCTGAGGCACGACAGTTCCGGGGAAGGGAAGAGGAGGTTCATCACTGTGAGCAAGAGGGCCCCGCGACCCCGAGCAGCCCTGGGACCCCCAGCAGGGACCGGTGGCCCAGCCCCTCTCCAGCCAGTGCCCCCTACCCCTGCGCAGACAGAGCAGCCTCCCAGGGAGCAGCGTGGCCCAGACCAGCCTGATCTGAGGACGCTGCACCTGGAGAGACTGCAGAGGGTCAGGAGCGCGCAGGGGCAGCCCGCCAGCAAGGAGCAGCAGGCCTCAGGGCAGCAGAAACTTCCAGAAAAGAAAAAGAAAAAAGCCAAAGGTAAGTCAACTAATAAGAACTTGGGGCAGTGTCCCCTCACTGGGGTGCTGGCCCCACTTGGAGCCCACCTGCCACCATCAACAGAAGGAAGGGCTTCCTCCTGGTGGCACCGTGCCCGTGTCATTTTAGCTTTATTTTCAGTCATGCCACTCCCAGCTCCGTCTGGGCTCCCCTAGGTCGGTGATCAGGTCACGGGCACCTTCTTTTCCCAGACCCTGTGTGGGACTCGGCAAGTAGGCAGCACTCAGAGCATGTCTGCAGCAGCAGGAGGGGCCTGGAAGAGCAAACATGGATGGCTCCCTGGAGCCCCTCGGGAATGGAGCGATCACGGGGTCCCATGCAACATGTGGCC
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GAGTACGGCGCGAGGGTGGTGCGGACACTGACGGTGCAGTACCGCATGCACCAGGCTATCATGCGCTGGGCCTCAGACACCATGTACCTTGGGCAGCTCACAGCCCACTCTTCCGTGGCAAGGCACCTCCTGAGGTGAGTAGCTCGGCACCACCCGCCGCCCCATCCTTCTGCCCTGGCTAATCCTCTGCGTCACCTGTTTCTACGCAGCAAGCTAAAGTGAAGCTTTCTGCATGAAAGTCGACTCTGAGGCTAGCTTTTTGGAAGAGAGGGTGGCCTTGCCCTGGAGAGCTGGGTCAGGCCCGCTCCCTCCCTTCTGATGTCCTGATGTGCTCATTGTCCTCCCCTACCTAAGCCTTTTCCTCGTGGGAGGGGTCGGTTCTGTTGGGTGGGGCCTCAGTGCTGCACTGTGGCCCCCTGATGTGCTCCCTCTCTGCCTGTGTGCCAGGGACCTCCCAGGTGTGGCTGCCACAGAAGAGACGGGTGTGCCCCTGCTCTTGGTGGACACCGCCGGCTGCGGGCTGTTTGAGCTGGAGGAGGAGGACGAACAGTCGAAAGGGAACCCTGGTGAGCTTGCTTGCAGATGGCCAGCTTTTTTGTTTAAACATACCTCCAGCTCTTTAAAAATAAAAGGCACTTTAATTGCCTAATTCCGGGAGGAGCTGAGAGCAGTTGTTGATGGCCGTGAAAAAACGGAGCCCCACACTGCAAGAGGCTGAGCAGCATCGTTTTCTCCAGGGTGAGCAGACCGCTCCTGGGTGAGATGGGCCTGGCAGCATTTTACGGCCTTCTCCTGAATGGTGGCCCAGCTCTGCCTGGCTGGTCTGGTGATGGGAACTGTCATTGCTCAGCTGACACCACCATCTCCCCAGTTCCACGTTGAACAGGATGCACGGCCATAGGAGTCAAAAGGCCTTCATTGCTGATGTGAAATTCAAGTTAGCTGGGCATGGCTGGTCCTGGGGCCCTGGGACACAGATGATTAGCTCCCAGGAAGCCACCTGAGTGGAGGATCAGCTGGCCATGATAGACAGAAACGTGCCCGAAACACGTGTTGGTGGTGGATGCCCACTTGGGGCGACCTTGTGCTGCTCACCCGTTCTTTCTTTCCCTCCAGGCGAAGTCCGCCTCGTCAGTTTGCACATCCAGGCTCTGGTGGACGCTGGTGTTCCAGCCCGTGACATTGCTGTGGTCTCGCCATACAACCTCCAGGTACGAGGGTTTCCTTTTGTCCCTCTACAGAGCAGCTGGGGCTCACACAACCTAGAGGGTGAAAGAAAAAGGGTGATTTGTTGGCTGTGGTGACCGAAAAGTTCAGGGGTAGGGCTGACCTTATTGTGACTGGATCCAGGGCCCAAATGATGTCGTCAGGGGCCCCTCTGCGTGTTCGTCTGCCCGCCCCACCTTGCCCCGCCCTGCCCGGTGCCCCAGCCTTCTGCACTGGCTTGTGTTCTGGCCAGATTTGCTGGGTGACCCCGGCAGCCTCAGGCTGACACAGTCCTTCCACGGGCAGCCCTGGCGGAACAGCCTGTCCTTTTCTGGCATTTCCCACAGGAGTCTCAGCCTTGAGCCTTGCTGGTCTGGCTCAGGTCGTGTTCCCATGCGTATCTCATTTGGTAGGAAAAATGTACCTTCTGGAGTATCGGGAGGATCTGTGGAAGTGGCCATCATACCTTCCTGGTGTGCAGGCATCACACATAGGGCTGTCTGAGGCTGGCGGCTGTCATAAGCCAAAAGAAATGATCAAATGCCAGGGACAGGGTGTGGTATTGGCGTGCATGCGTGCCCGTGAGGAGGGCGAACGGGAAGCCTTTCCCCATGGGGCTCCTGCAGGCTCCGCTTCCCAGGTCCTGGCTGTTTCACAGCGTGAGGCCCTCTGCTGAGCTGAAGGGCAGGGTCTTGCTGCGCTGGCATGGGTGGGTGAGGAAACCACAGCCCGGCTGGTGTTTCAGGTGGACCTGCTCAGACAGAGCCTTGTGCACAGGCACCCTGAGCTTGAAATCAAGTCTGTCGATGGCTTCCAAGGCCGAGAGAAGGAGGCCGTGATACGGTCCTTCGTCAGATCCAACAGGAAAGGTACGGAGCCCTCGCCAGAGTCCTTTGGGGACAGCACAGAAGTGAATTTATTGATTGAGGGGCATATTGGGTGTCTGCTGGGTGCCACACTGGTTTCTGGCAGTGTGCTCATGGTGCACCTTCTGTCCTTAGTAAGTTCACGTCAGGCAAAGCACAGGCAAGAGAGTCTGCAGAGGCTCAGAGGCGTGAGTGTGCTGTCAGGGAGCAGGTGGCTGGGGTGGCAGCTGGGGGCGCAGGGTGGGCTGGGAATGATCAGGACATCCTGCCGAGGAGGTGAAGCCCCCTGCAGCCCAGAGCTGGCCTTTAGCCTCCATGCACGGAGCCGCGGGGTGTGGTGGTCGTGGCTGTGGTTTCTGTGCTGCTGTGGTGTGTGGGCTTTCCCATTTGGGATGAGCATTGTTCCCAGAAGCAGGTTTAGTGAACGGGCTTTGTGAGACATTCTCAGAAGGCAGAAAGCAGGTGAGGCCTGGCTAGAAGCTATGGGGGAAAGAAGGGAAGGTCCTGGAAGGTTTCTTGTGCTTTCTCCCTGGTGCCAGCTGCAGCCACACCCCAGGCGGCCCCTGAGGCTGGGCTTAGAAGGAAAGGAGCGACAGAACCCAGTCGGGTTCCCCAGAGCCCCACTCAGTCAGCCGTGGCAGCCAGATGCCAGGGCAGGTGTGGCATCACGGTGCCACGCGTGGCCGGGCACCCGTGTGGATGGTGGGCCACGCGCAGGGGACTACACTTTTGGTGGTGGTTACTGATAAGGGCGTAGGAGCCTGACTGTGTTTCTTAGTCTGAAACCTGCTTCTCACTCCCCTCTGGCCTTTTGTAGGTGAAGTTGGTTTTCTTGCTGAGGACCGGAGGATCAACGTGGCTGTCACCCGTGCCCGACGCCACGTGGCGGTCATCTGTGACTCCCGTACTGTCAACAACCATGCATTTTTGAAGACCCTGGTGGAGTATTTCACACAGCATGGGGAAGTACGCACGGCCTTTGAGTATCTTGACGATATTGTCCCAGAAAACTATTCCCATGAGAACTCCCAGGGTTCCAGCCACGCTGCCACCAAGCCCCAGGGACCTGCTACGTCCACCAGGACCGGAAGCCAGCGGCAGGAGGGAGGCCAGGAGGCTGCAGCACCTGCCAGACAGGGCCGGAAGAAGCCGGCTGGGAAGTCTCTGGCCTCTGAAGCTCCATCTCAGCCCAGCCTCAACGGAGGCAGCCCAGAGGGAGTGGAGAGCCAAGATGGCGTGGACCACTTCCGGGCCATGATAGTGGAGTTCATGGCCAGCAAGAAGATGCAGTTGGAGTTTCCTCCTTCCCTCAATTCCCACGACAGGCTGCGGGTCCACCAAATAGCCGAGGAGCACGGGCTGAGGCACGACAGTTCCGGGGAAGGGAAGAGGAGGTTCATCACTGTGAGCAAGAGGGCCCCGCGACCCCGAGCAGCCCTGGGACCCCCAGCAGGGACCGGTGGCCCAGCCCCTCTCCAGCCAGTGCCCCCTACCCCTGCGCAGACAGAGCAGCCTCCCAGGGAGCAGCGTGGCCCAGACCAGCCTGATCTGAGGACGCTGCACCTGGAGAGACTGCAGAGGGTCAGGAGCGCGCAGGGGCAGCCCGCCAGCAAGGAGCAGCAGGCCTCAGGGCAGCAGAAACTTCCAGAAAAGAAAAAGAAAAAAGCCAAAGGTAAGTCAACTAATAAGAACTTGGGGCAGTGTCCCCTCACTGGGGTGCTGGCCCCACTTGGAGCCCACCTGCCACCATCAACAGAAGGAAGGGCTTCCTCCTGGTGGCACCGTGCCCGTGTCATTTTAGCTTTATTTTCAGTCATGCCACTCCCAGCTCCGTCTGGGCTCCCCTAGGTCGGTGATCAGGTCACGGGCACCTTCTTTTCCCAGACCCTGTGTGGGACTCGGCAAGTAGGCAGCACTCAGAGCATGTCTGCAGCAGCAGGAGGGGCCTGGAAGAGCAAACATGGATGGCTCCCTGGAGCCCCTCGGGAATGGAGCGATCACGGGGTCCCATGCAACATGTGGCC
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Task1_train_16230
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The gene FGF3 (fibroblast growth factor 3) is located on Chromosome 11, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Deafness with labyrinthine aplasia, microtia, and microdontia
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CACAGCCATCAGCTGCGAAAAATCCACATTCTCTTGTCAAAGCTGTTTTACATGTTAAACAAGAGCCCCCAGTGTCTCCTACGCCTTCATCAGGGACCATCTGTTGATCCTGCAGCACTGAGTACTGCTGCTTCCCCTGTGTTGACACAGCCCCGGGCAAGTTCCCCTTGCCAGGACTCAGGGTCATCATCTGCAAGGAGGGAGTGATGGCAGCCCCTGCCCCATCTCACTCTAGAGAAACAACAAAACCCACAGCAGAGCTCAGCTGCGTGCTGCTCCTGTTGACTGCCAGGAATGTTCGCAGCTGCAGGGGAGCCATTCCGGGAAATCTGACATGCGCTGGGGGCTGAAGGAGGCACCGAGATTTTCACTTGTGTTGCACACGTGCCAGGGAGGAGCCCAGCCTCCCTGTGGGTTTGGCGAGTCTGCACTAACCAATCAGGTGGCTCTGAGTCTGGGCTCTCTGAGTCTGGGCTCTGTGACCACAAGCTCTCTGGCCCTGGACACTCTGACCCTGGGCTCTCTGAGTCTCAGCTCTCTGACTCTGGCCTCTCTGACCCTAAGTTCTCTGACCCTGGGCTCTCTGAGTCTGGGCTCTCTGACCCCTGGGAGGGCATGGGAACAGAGAGCGATGGTCCTCACAGTCCCAGGCTCAGGAGAGCCTCCTCACCTGGACCCTGCCCATCCTGCCAAGTGCCAGGAGAGGTTAGTACACTGCCCATGCTGGCTCTCACCTGGGCCGGCCCAGGTGATTCCACCCATGCCATTGTTGGGGAACAGGTGTGAGGAGGCACCTAGTCCAAGGCAGGGCCCGGCCACTGAGTAATTGCTTCTCTGAGCCTCACCTTCTTAGGTAAAGACAGGGTGCACGGGCCCCAAGAGCAGGTTGTAAGGATAAAGGAAGTTTCTGTGCTGCCTGACCTGACACAGTTGCTCTAAAGGGTCCCTGGAGAAGCACACAGCTTCCAGAGGGAGAGGCTTTTTAGAGTTTTCAAAGAAAGTAAACTCTCTCTCTCTCTCTCCACACACACACACACACACACACACACACACACACACACAGACACACACACATCACACATTCAGACACACCCAGAAACACACACACACATACATGTCCTCACACAGGTACCACTAACACAAGATCACACATACCCACATGCACACTCACGCTTTCAGAAATACACGATCCTTCTCTCCACGCACACACACACGATGCACACACATGCACAAACATGCCTTTGCTTGTTTCCAACCATCCAAAAAAACGTAACTTTCTAAAACCAGGGAACTGAAATGCACCTTTAGCCCGATTTCTGGGAATGCCGTCTTCCTCTTAAAGCAGCAGCTGACGCAGGCTGATGCCAGCGCGGATTCTGCTGTGCTGGAAGCAAGCACGTTCCAGTAAAGGCGGCAAGCGCTCCTCAGCCTGCATCACGGTCTACCAAACGACAGAGTAGAATAAAATACTTTAATGTTGTGATGACACAAAGCCCCACACTGCCCCGCTGCTCCTGGGAGGCTCCTCAGTCTGCCAGGGCTGGCACTCAGGCCCTTCCCTGCCGGCTTCCTGCCACACAGACCCACAAATGCCCTGCATTGCAGGCAGCCCCCTCCGAGCTCCGACTTGGGCCCTCTTCAGTTCCCACTGGACCCTGATTTGAGCTGGCTCTGGAAATAGCTGAGAACCCAGACGCGGGACGCAGGGGCAAGGGCTCAAGGAGGAGAGTCAGAGTCAAGAGGCTGCCACGCCAAGATGTCGCCAGGAGCTCTGGCGGTGGCCACCAGGCCCAGCTAGTGCGCACTGGCCTCCAGCTGGGAGCCCAGTCTCGAAGCCTGAACGTGAGAGGGCTCCAGGTTATCCGGGCTCTGCTTCTGCCGCCGCCGTCGGGGCTGGACCCCCTTACCAGGGGGTCTGGGCAGCCCACTCTGTAGCTGCCGCACCATCTCGTGGTCCCTGTGGTCCAGCACGCGGGGCAGGAACAGGGAGGACTTCTGTGTGCGGCGGGTCTTGAAGCCCCTGCGGGGCCGGCCCTTGCCGTTCACAGACACGTACCACAGTCTCTCGGCGCTGGGCTGCCGGCGGGCCCCAGGCGTACTAGACACCGTCCGGTACAGCCGGGAGGCATACGTATTATAGCCCAGCTCGTGGATCCGCTCCACAAACTCGCACTCGGCGCTGTAGTGCTCCTGCGGGGATGAGATATCATGGTCAGTGCCCCGGGGAGACTGTGGCAGCGTCAGGGCCCAGGGTTGCCTGATGCCTCCCTCCCCTCCTGTGAGGCTGTTCGGTCCAGTGCCAAACCCCAGCGCACTCTCAGCCAGTCACACCTTTGCCTAGGCCCTGCCCTCTGCCCAGCATGTCCTTCCTCCCCTGTGTGCCTGGTGAACTTGGCCTTCTGCCTAAAGGTCACCTTCACTCAAAGCTGTGCCAGACAACTCCCAGCTCCTGCTCTCTGGGTTCCACCAGCCTCTGTCCCCCATCTGAGGGCGCTGACACAGCAAAGGGATGTGTAGGGTTGTCTGTGGAGCAGAGACCAGGCCGGCCAACCCAGGTGCCCTGGCAGTCTGCTGGCAGTGTGGAGGTCAGCAAGGACTGGGCATTTGGACAAAGGAAGATGACAACACCCAGATCTCTTTTAAAGAAATTGCAGAGGCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCAGTTTGGGAGGCCGAGGCAGGTGAATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGGCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCGTGCGCCCACAATCCCAGCTACTTGGGAGGCTTAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCAGAGATTGTGCCACTGCACTCCAGTCTGGGCGACAAGAGCAAAACTCTGACTCAAAAAAAAAAAAAAAAAGAAAAGAAAAAAAAAGAAATTGCAGAAAAGAAAAAAGAAGAAAGAACACAAAAAGCAGGAAGGGAAGGGGACACAGCCAGGTTTGATGAGCCCAGACTCTCCATTAAACGCTGCGCTCAGGGGCCCCAGCTGGGGTCATTGACCCCTGAGCAACACTCTCTTAAGCTGGAGGATCTCGCCTTGCAGGTTGAAGAGGTTACAACACAGAGCAGGGGCTGGGGCCTGGCATGAGGCACATGATCAATCAGTGCCACAGATACTGCTGTTCTTAGGATGAGAGCAGAAGCTGGGGTGTCCCACCACAAGCAGGACAGAGAGGACACCTCTTTGTCATCAGAGATTAATGGGACCCTTGTCAGGCCCAGGGTGCAGTGGGGGAAGGGCAGAAGGGACCCTGCCCTCTCAAAGGCACAGTGAAGCTCTGAACTGAAGGAGCTTACACCAACATCCCCAAGACTTGGCCGTGGGAGTTTCCCTCAAGGGCTGCCTCATGGGGTCTTCTTAGTCTGTGGCGTAGGGAAGAGGTGGGTATGCCTTATGCAGACCCACTAGGCTTCAGTCCCAGCTACAGGCAAGTGGTAATGCCTAGGGCCACCTCCCTCAGGGGATGACTGACAGGAGCTGCTCCCTCCAAACCAGAAAGGGTGGTGGGAGGTGGAAGCAGCAGGTGCAAGGCAGACAGCAGGATCTCTCTTTCCTCCTGGGGACTGGCCGCAGGGAGGAGTCGGAGGCCCTCATGGTCTGTCCCCATCTGGGGTGTGGTGTCCCGTGGCAGAGAGAGAGAGTGGAAATGGCCTCCAGAGGCTCCCAGACTGGACCGAGCAGCATCTGACCTCGCAGGACCTCAGGGAACAAGATGCTTCAAGCACCCCATCCTGTTTTTCAGCGACATGAAAGCCCAGAGCAGGGAAGGGTGGAAGGCTTGACCTGGTGGTAGGGGCTGCCTCTCCCCATAACCCCAAGCCCCCCTGCTCTCCAGCCCTCTTGGAGGCCCAGTGCCCCCTGGGCCACAGTCTGGATGTTACTATCCAAGACCGGTCTCCATGTTTATAGATGGGGAAACTGAGGCCCAGGGGTGGTGCCAGGCCCTACATTACAGGGGATAGAACAGTGTCTGATCTGTGCCTGACCCCCACATA
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CACAGCCATCAGCTGCGAAAAATCCACATTCTCTTGTCAAAGCTGTTTTACATGTTAAACAAGAGCCCCCAGTGTCTCCTACGCCTTCATCAGGGACCATCTGTTGATCCTGCAGCACTGAGTACTGCTGCTTCCCCTGTGTTGACACAGCCCCGGGCAAGTTCCCCTTGCCAGGACTCAGGGTCATCATCTGCAAGGAGGGAGTGATGGCAGCCCCTGCCCCATCTCACTCTAGAGAAACAACAAAACCCACAGCAGAGCTCAGCTGCGTGCTGCTCCTGTTGACTGCCAGGAATGTTCGCAGCTGCAGGGGAGCCATTCCGGGAAATCTGACATGCGCTGGGGGCTGAAGGAGGCACCGAGATTTTCACTTGTGTTGCACACGTGCCAGGGAGGAGCCCAGCCTCCCTGTGGGTTTGGCGAGTCTGCACTAACCAATCAGGTGGCTCTGAGTCTGGGCTCTCTGAGTCTGGGCTCTGTGACCACAAGCTCTCTGGCCCTGGACACTCTGACCCTGGGCTCTCTGAGTCTCAGCTCTCTGACTCTGGCCTCTCTGACCCTAAGTTCTCTGACCCTGGGCTCTCTGAGTCTGGGCTCTCTGACCCCTGGGAGGGCATGGGAACAGAGAGCGATGGTCCTCACAGTCCCAGGCTCAGGAGAGCCTCCTCACCTGGACCCTGCCCATCCTGCCAAGTGCCAGGAGAGGTTAGTACACTGCCCATGCTGGCTCTCACCTGGGCCGGCCCAGGTGATTCCACCCATGCCATTGTTGGGGAACAGGTGTGAGGAGGCACCTAGTCCAAGGCAGGGCCCGGCCACTGAGTAATTGCTTCTCTGAGCCTCACCTTCTTAGGTAAAGACAGGGTGCACGGGCCCCAAGAGCAGGTTGTAAGGATAAAGGAAGTTTCTGTGCTGCCTGACCTGACACAGTTGCTCTAAAGGGTCCCTGGAGAAGCACACAGCTTCCAGAGGGAGAGGCTTTTTAGAGTTTTCAAAGAAAGTAAACTCTCTCTCTCTCTCTCCACACACACACACACACACACACACACACACACACACACAGACACACACACATCACACATTCAGACACACCCAGAAACACACACACACATACATGTCCTCACACAGGTACCACTAACACAAGATCACACATACCCACATGCACACTCACGCTTTCAGAAATACACGATCCTTCTCTCCACGCACACACACACGATGCACACACATGCACAAACATGCCTTTGCTTGTTTCCAACCATCCAAAAAAACGTAACTTTCTAAAACCAGGGAACTGAAATGCACCTTTAGCCCGATTTCTGGGAATGCCGTCTTCCTCTTAAAGCAGCAGCTGACGCAGGCTGATGCCAGCGCGGATTCTGCTGTGCTGGAAGCAAGCACGTTCCAGTAAAGGCGGCAAGCGCTCCTCAGCCTGCATCACGGTCTACCAAACGACAGAGTAGAATAAAATACTTTAATGTTGTGATGACACAAAGCCCCACACTGCCCCGCTGCTCCTGGGAGGCTCCTCAGTCTGCCAGGGCTGGCACTCAGGCCCTTCCCTGCCGGCTTCCTGCCACACAGACCCACAAATGCCCTGCATTGCAGGCAGCCCCCTCCGAGCTCCGACTTGGGCCCTCTTCAGTTCCCACTGGACCCTGATTTGAGCTGGCTCTGGAAATAGCTGAGAACCCAGACGCGGGACGCAGGGGCAAGGGCTCAAGGAGGAGAGTCAGAGTCAAGAGGCTGCCACGCCAAGATGTCGCCAGGAGCTCTGGCGGTGGCCACCAGGCCCAGCTAGTGCGCACTGGCCTCCAGCTGGGAGCCCAGTCTCGAAGCCTGAACGTGAGAGGGCTCCAGGTTATCCGGGCTCTGCTTCTGCCGCCGCCGTCGGGGCTGGACCCCCTTACCAGGGGGTCTGGGCAGCCCACTCTGTAGCTGCCGCACCATCTCGTGGTCCCTGTGGTCCAGCACGCGGGGCAGGAACAGGGAGGACTTCTGTGTGCGGCGGGTCTTGAAGCCCCTGCGGGGCCGGCCCTTGCCGTTCACAGGCACGTACCACAGTCTCTCGGCGCTGGGCTGCCGGCGGGCCCCAGGCGTACTAGACACCGTCCGGTACAGCCGGGAGGCATACGTATTATAGCCCAGCTCGTGGATCCGCTCCACAAACTCGCACTCGGCGCTGTAGTGCTCCTGCGGGGATGAGATATCATGGTCAGTGCCCCGGGGAGACTGTGGCAGCGTCAGGGCCCAGGGTTGCCTGATGCCTCCCTCCCCTCCTGTGAGGCTGTTCGGTCCAGTGCCAAACCCCAGCGCACTCTCAGCCAGTCACACCTTTGCCTAGGCCCTGCCCTCTGCCCAGCATGTCCTTCCTCCCCTGTGTGCCTGGTGAACTTGGCCTTCTGCCTAAAGGTCACCTTCACTCAAAGCTGTGCCAGACAACTCCCAGCTCCTGCTCTCTGGGTTCCACCAGCCTCTGTCCCCCATCTGAGGGCGCTGACACAGCAAAGGGATGTGTAGGGTTGTCTGTGGAGCAGAGACCAGGCCGGCCAACCCAGGTGCCCTGGCAGTCTGCTGGCAGTGTGGAGGTCAGCAAGGACTGGGCATTTGGACAAAGGAAGATGACAACACCCAGATCTCTTTTAAAGAAATTGCAGAGGCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCAGTTTGGGAGGCCGAGGCAGGTGAATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGGCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCGTGCGCCCACAATCCCAGCTACTTGGGAGGCTTAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCAGAGATTGTGCCACTGCACTCCAGTCTGGGCGACAAGAGCAAAACTCTGACTCAAAAAAAAAAAAAAAAAGAAAAGAAAAAAAAAGAAATTGCAGAAAAGAAAAAAGAAGAAAGAACACAAAAAGCAGGAAGGGAAGGGGACACAGCCAGGTTTGATGAGCCCAGACTCTCCATTAAACGCTGCGCTCAGGGGCCCCAGCTGGGGTCATTGACCCCTGAGCAACACTCTCTTAAGCTGGAGGATCTCGCCTTGCAGGTTGAAGAGGTTACAACACAGAGCAGGGGCTGGGGCCTGGCATGAGGCACATGATCAATCAGTGCCACAGATACTGCTGTTCTTAGGATGAGAGCAGAAGCTGGGGTGTCCCACCACAAGCAGGACAGAGAGGACACCTCTTTGTCATCAGAGATTAATGGGACCCTTGTCAGGCCCAGGGTGCAGTGGGGGAAGGGCAGAAGGGACCCTGCCCTCTCAAAGGCACAGTGAAGCTCTGAACTGAAGGAGCTTACACCAACATCCCCAAGACTTGGCCGTGGGAGTTTCCCTCAAGGGCTGCCTCATGGGGTCTTCTTAGTCTGTGGCGTAGGGAAGAGGTGGGTATGCCTTATGCAGACCCACTAGGCTTCAGTCCCAGCTACAGGCAAGTGGTAATGCCTAGGGCCACCTCCCTCAGGGGATGACTGACAGGAGCTGCTCCCTCCAAACCAGAAAGGGTGGTGGGAGGTGGAAGCAGCAGGTGCAAGGCAGACAGCAGGATCTCTCTTTCCTCCTGGGGACTGGCCGCAGGGAGGAGTCGGAGGCCCTCATGGTCTGTCCCCATCTGGGGTGTGGTGTCCCGTGGCAGAGAGAGAGAGTGGAAATGGCCTCCAGAGGCTCCCAGACTGGACCGAGCAGCATCTGACCTCGCAGGACCTCAGGGAACAAGATGCTTCAAGCACCCCATCCTGTTTTTCAGCGACATGAAAGCCCAGAGCAGGGAAGGGTGGAAGGCTTGACCTGGTGGTAGGGGCTGCCTCTCCCCATAACCCCAAGCCCCCCTGCTCTCCAGCCCTCTTGGAGGCCCAGTGCCCCCTGGGCCACAGTCTGGATGTTACTATCCAAGACCGGTCTCCATGTTTATAGATGGGGAAACTGAGGCCCAGGGGTGGTGCCAGGCCCTACATTACAGGGGATAGAACAGTGTCTGATCTGTGCCTGACCCCCACATA
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Task1_train_16231
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Gene FGF3 (fibroblast growth factor 3), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Deafness with labyrinthine aplasia, microtia, and microdontia
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GGCTGAAGAGATGCAGGGGCGTGGTCTGAGGACTAGGGATGGACTGAATAGCAGGAGGGGTCTACCATGACTCCCAGCCCACTCTGGGTGAGAGTGAGTGGCTGGTGGGGCGATGATTAAGATGGGGAGTCGGGGAGCTGCTGAGTTCGGTTCGAGTGTCTGAGTCAGCAGGATGTTGGGGGAGGGTGGTCTATACCTCAGAAGGGAGGTCAGGGCCAGACCAGGAGTGTCAGGGTGCAGTGCTCACTGGCCCACAGTGAGATGAGCTGGCCTGAGGGCAAGCATGCTGCCGGCAAAGTCCAGGGAGCCCCGTGGTGGGACAGCACTCCTAGGCAAGCTGGCCGCACGCAGGACTGTGGTATCAGGTGGCAGGTGGCAGGTGACGGAGTTGGCATCCAGGCTACTATGCCTCCCAGGTTGTCTGCAGGGCAATGGGAACTTCTCCACTGGGCACTCTGGAAAGTTCCACACCCTCCAGCCAGACTGCTTGGCTAAGCATCCCTGGTGGGGCTAGGAGCCTCTGTCCACCCTTCTCAAAGCCAGGCTGTGAGTTCTCAGGCACGGAAGCCCCAGGTGGGCTCTGAACCACTGGGACCCCCTCATGTCATGCTTTATTCTGTCTCTCCAAATCCTGGCTCCCCTATGGCAGAAGCTGGCACCATGAGGGCCCCTGCTCCCAGACACAGCTTCCAGGACACTGACTGATGAATGGACTGAATGTCAGATGGATAGGTGTATGGATGGATGGGTGAGTGGGTGGGTGGATGGATGGGTGAGTGGGTGGGTGGATAGGTGGATGGGTGAGTGGATGAGTGGATGGGTGGATAGGTGGATGGATGGATGGATGGATGGATGGATAGGTGGATGGGTGGATGGGTGGATGGGTAAATGGGTGGATGGGTGGATGGGTGGATGGATGGATGGATAGGTGGATGGTGGATGGGTAAATGGAAGGATGGGTGGATGGGTGGATGGATGGATGGATAGGTGGATGGATGGATGGGTGGATGGGTGGATGAGTGGATGGATGGATGGGTGGATGGGTGGATGAGTGGATGGGTGAATGGGTGGATGGGTGGATGGGTGAGTGGATGGGAGGAAGGAGGGAGTAGCCTCTGGACCAGAGAAAATGAAGGGGCGCATCCCGGCTTTCTGGACCTTCCTTTAGCAAAACGGCTAAAAATCTGTGATGAAATCATCAGCTTCTGCGAGAGGGAGCTGCGGGATGTGTCCTCTGTGAGCAGGACTGAGCAGAGAGCTCACTGCAGGGAGATTGTCCTTGGGCCGCGTCAGCCAGGCTACTCATGGATGGAAAACCTCTCATTGCCCAAGGAAGTATCAGCCAAATTGCATGTAATGACTAGTTGGAGGTAGCAAATTTCCCTGTGACATGTATTTTACTCTGTGTATTCCCCACCCCTACCCCTTATGAAGAGGGGCGCTGCCATACCCACAGAGTAAGGAGACCCTTTTTGGTTACACGGAGGCCCAGGCAGTAGATAGACTGGGTCCCAAGCCAGGGCTCCAAGGCTCCTGTGTGCCCGGGACATGGGCGCCATCCCCCTTCCCCTCCTAGGCTTCAGCTCTCGCCTTTCCACCCTTGGAGAGAGCCGGTGGAGCTGGGCCAGCGTCCTCCTCTCCATGCTCCCAGGAGAGCTCTGGCTGCCCCAAGGAACACTCCCAGGTTGTCTTGGGTCCATTTATTTTGGTGGAAATTTGGAGAACAATCACTTCCCTGCTCTCAGCTACTCTCAAGGGAGGGTGGTAGTGATGACAAGGATGGGGGAAACCTTTGCTAACCTGGCATTCTCCAGATCCCAGGTCCCCCAGGGCCAGGCTCCAGGTCACTCGCGGAGCAGCCTCTAACAGACACAGCCAAAGATCACTGGGCGTGGAGCCCTGGGCCAGGGTCTGGTCCTAGCTTGGGTCCCGTGTACCCTTGGCAAAGCATTCTACTGCCCACATCCCCCGTCCCCTGGCTTGATGTGCAGGCCAGACCGCTACTCCGTCAGCGCCCACCCACGTGACAGCCTGGACTCACCGAAGCATAGAGTCGTCCCCTCTTGTTCATGGCCAGGTACCGCCCGGAGAAGAGACCCCTGATGGCCACAATGCCCACCTCCACTGCCGTTATCTCCAAAATACCTAGAAGAAATGAGAGGTGCCTCACTCCCGCCGCCCCCACGGAGGGGGCGGCTGAGGCCCAGCTGGCCCTGCCCAAAGCCACACCCCGGGCTCAGGGCTGGGGAGGGTAGCACACACCCCACAGGTCGGGGAGTGAGTGGAAGTTCAGGAAGGGAGAAGTCACCGGACAGGAGGTAGAGAAGGGAACATCAGGGAAGGCTTCTCTTCATTCAAACTTGGGAGGGTAACAATGAAATTAACATTCCCACCTGCTGACGCTGCCTGCACCCTGGCTTTCATTCGAGCCTCACAACACCTTGCCAGCTGCCATCATCATCCGACAGACAAGCAAGTGGGGACCACTATGGCTGGGTGACTGTCAGGCCCCTGCACATGTGCTTGAGCGGGAAATCAAGCCCTGGCGGCAGCCATGGGAGTCTGAGCTCTGGGACTGCACGGTCCCCAATGCCTGTGCCTGCCAGCGGGAAAGCTGGGCCCTGATGAGCCAGGCTGATAATATAAACCACTGGCAATAACACAGCCAGGGTGCCTGCCACCCAGATCATGCTGGCAATAGACCTGGCGGGAGATCATTGTACTCGCCGGGGGACCTGGAAGGGCAGGAAGCCAGTTTAGACCCTGGAGCCCGCAGAGGGAAGCTGGACGGGTCTCACCCACTCCCCAGGGATAAGAAAGTTTAAATCTCCCCTCCCGCCTTTCCTTCTGGATACACGAGTGCTGTGGTGGGGGCTGGGGGCGGGGGACTACATCAAAGGACGGGTTGGGGTCATTGTCTCCCAATAGAGGCTGCGAGGGGATTGGGGCGACTGCCTGCACCCTCTCCAAGGCATGCCTCTCAGGAGCGCCCTCCTGGCACGCGGTCCGAGCACAGACGCGGTCACCACCGGGCTTTTGCTCCAGCCCAGGGGTGCTGTGGTGCAGGCTGCGAGCCTCCCGCCTTCCCAGTGCGCAGGCTGGGCGGCATCGGCGGTGCCTGACCGGGGACCAGCGAAGCACGAGTCTCGACGCAGGACAGGGGCGGCTGCGGGCGCGCGCCCTCCCCTCCCCGTGAGCAGCCTACACCAAGAAGTTTGGATGCTGTGCGACTCCGAGGGGGAGCCTGGCTTTGGAGAGAACCGGAGTGTCTTAGTGAGACGAATTCCGCGCACTCGGACCCCCTGGTGACAGCTGGTGCCCACCGTGCGGCTCCGGAGGCGCATGTCCCCAGGACGCCCTCTCAGGGCTGCGGCTTTCCTGGAGGAAGCCGCGGTTTGCTGAGGCCGCCGCCGCCACCTTCAAGCGGCGGAACCGCTTCCTGCGCCCGGGGCCGGAGCCGAGCGCCGCGCGGAGCACCCGAGGACAGCTGTGGTCTTGACTGCCCTCCCACGCTCCCCACGCGGTCCTCCCGGGCCCTGAGCTCCGCTATCCTGCTCCTCAAAGGGCTCGGCGCGGGCCTCAGGTCCCTGTGACCAGAGGAGCCCAACCGTGTAGTCCGGCAGACTCCCGCGGTGAGCGCAGCCCGGGCCGCGGGTCCTGCGTGCGGGGGCCGGAGTGTGTGTGTCTGCACCCCCAGGCCCGGGCGGACACCGTTCCGCGCTCGTGATCCGCACGTCCCGACGGCGAGGGCCTCCACCCTCCTGTCGCTGTGCGGCCAGGGCGGAGGCGGGGGAGGTGCAGATTCCAGCGCGGGGAATAACTGTCGGTGGCGGCCGCGGCCAGGGAACCGAGCTCCGCAGGGCAAGAGTCCTCCGCGCAGAGGCAGCAGCGGGGGCGGCCACCTGGGCAGCCGCGAGCGGGGAGGGCGGAGGGGACGGCGGGGCGTCCAGGGGTCGGCAGGAGGAGGAGAAGTCGTCAAAATAATAAAGAGGATGATAAATGCCTTGTCCGGCTCCTTTTCTCCGACACATTCAAAGGGCTTAAACTTGTCAGAGCTGCCCAAAGCAGCAGAGCCTGGAGCCCCGGGGTCGCCTAG
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GGCTGAAGAGATGCAGGGGCGTGGTCTGAGGACTAGGGATGGACTGAATAGCAGGAGGGGTCTACCATGACTCCCAGCCCACTCTGGGTGAGAGTGAGTGGCTGGTGGGGCGATGATTAAGATGGGGAGTCGGGGAGCTGCTGAGTTCGGTTCGAGTGTCTGAGTCAGCAGGATGTTGGGGGAGGGTGGTCTATACCTCAGAAGGGAGGTCAGGGCCAGACCAGGAGTGTCAGGGTGCAGTGCTCACTGGCCCACAGTGAGATGAGCTGGCCTGAGGGCAAGCATGCTGCCGGCAAAGTCCAGGGAGCCCCGTGGTGGGACAGCACTCCTAGGCAAGCTGGCCGCACGCAGGACTGTGGTATCAGGTGGCAGGTGGCAGGTGACGGAGTTGGCATCCAGGCTACTATGCCTCCCAGGTTGTCTGCAGGGCAATGGGAACTTCTCCACTGGGCACTCTGGAAAGTTCCACACCCTCCAGCCAGACTGCTTGGCTAAGCATCCCTGGTGGGGCTAGGAGCCTCTGTCCACCCTTCTCAAAGCCAGGCTGTGAGTTCTCAGGCACGGAAGCCCCAGGTGGGCTCTGAACCACTGGGACCCCCTCATGTCATGCTTTATTCTGTCTCTCCAAATCCTGGCTCCCCTATGGCAGAAGCTGGCACCATGAGGGCCCCTGCTCCCAGACACAGCTTCCAGGACACTGACTGATGAATGGACTGAATGTCAGATGGATAGGTGTATGGATGGATGGGTGAGTGGGTGGGTGGATGGATGGGTGAGTGGGTGGGTGGATAGGTGGATGGGTGAGTGGATGAGTGGATGGGTGGATAGGTGGATGGATGGATGGATGGATGGATGGATAGGTGGATGGGTGGATGGGTGGATGGGTAAATGGGTGGATGGGTGGATGGGTGGATGGATGGATGGATAGGTGGATGGTGGATGGGTAAATGGAAGGATGGGTGGATGGGTGGATGGATGGATGGATAGGTGGATGGATGGATGGGTGGATGGGTGGATGAGTGGATGGATGGATGGGTGGATGGGTGGATGAGTGGATGGGTGAATGGGTGGATGGGTGGATGGGTGAGTGGATGGGAGGAAGGAGGGAGTAGCCTCTGGACCAGAGAAAATGAAGGGGCGCATCCCGGCTTTCTGGACCTTCCTTTAGCAAAACGGCTAAAAATCTGTGATGAAATCATCAGCTTCTGCGAGAGGGAGCTGCGGGATGTGTCCTCTGTGAGCAGGACTGAGCAGAGAGCTCACTGCAGGGAGATTGTCCTTGGGCCGCGTCAGCCAGGCTACTCATGGATGGAAAACCTCTCATTGCCCAAGGAAGTATCAGCCAAATTGCATGTAATGACTAGTTGGAGGTAGCAAATTTCCCTGTGACATGTATTTTACTCTGTGTATTCCCCACCCCTACCCCTTATGAAGAGGGGCGCTGCCATACCCACAGAGTAAGGAGACCCTTTTTGGTTACACGGAGGCCCAGGCAGTAGATAGACTGGGTCCCAAGCCAGGGCTCCAAGGCTCCTGTGTGCCCGGGACATGGGCGCCATCCCCCTTCCCCTCCTAGGCTTCAGCTCTCGCCTTTCCACCCTTGGAGAGAGCCGGTGGAGCTGGGCCAGCGTCCTCCTCTCCATGCTCCCAGGAGAGCTCTGGCTGCCCCAAGGAACACTCCCAGGTTGTCTTGGGTCCATTTATTTTGGTGGAAATTTGGAGAACAATCACTTCCCTGCTCTCAGCTACTCTCAAGGGAGGGTGGTAGTGATGACAAGGATGGGGGAAACCTTTGCTAACCTGGCATTCTCCAGATCCCAGGTCCCCCAGGGCCAGGCTCCAGGTCACTCGCGGAGCAGCCTCTAACAGACACAGCCAAAGATCACTGGGCGTGGAGCCCTGGGCCAGGGTCTGGTCCTAGCTTGGGTCCCGTGTACCCTTGGCAAAGCATTCTACTGCCCACATCCCCCGTCCCCTGGCTTGATGTGCAGGCCAGACCGCTACTCCGTCAGCGCCCACCCACGTGACAGCCTGGACTCACCGAAGCACAGAGTCGTCCCCTCTTGTTCATGGCCAGGTACCGCCCGGAGAAGAGACCCCTGATGGCCACAATGCCCACCTCCACTGCCGTTATCTCCAAAATACCTAGAAGAAATGAGAGGTGCCTCACTCCCGCCGCCCCCACGGAGGGGGCGGCTGAGGCCCAGCTGGCCCTGCCCAAAGCCACACCCCGGGCTCAGGGCTGGGGAGGGTAGCACACACCCCACAGGTCGGGGAGTGAGTGGAAGTTCAGGAAGGGAGAAGTCACCGGACAGGAGGTAGAGAAGGGAACATCAGGGAAGGCTTCTCTTCATTCAAACTTGGGAGGGTAACAATGAAATTAACATTCCCACCTGCTGACGCTGCCTGCACCCTGGCTTTCATTCGAGCCTCACAACACCTTGCCAGCTGCCATCATCATCCGACAGACAAGCAAGTGGGGACCACTATGGCTGGGTGACTGTCAGGCCCCTGCACATGTGCTTGAGCGGGAAATCAAGCCCTGGCGGCAGCCATGGGAGTCTGAGCTCTGGGACTGCACGGTCCCCAATGCCTGTGCCTGCCAGCGGGAAAGCTGGGCCCTGATGAGCCAGGCTGATAATATAAACCACTGGCAATAACACAGCCAGGGTGCCTGCCACCCAGATCATGCTGGCAATAGACCTGGCGGGAGATCATTGTACTCGCCGGGGGACCTGGAAGGGCAGGAAGCCAGTTTAGACCCTGGAGCCCGCAGAGGGAAGCTGGACGGGTCTCACCCACTCCCCAGGGATAAGAAAGTTTAAATCTCCCCTCCCGCCTTTCCTTCTGGATACACGAGTGCTGTGGTGGGGGCTGGGGGCGGGGGACTACATCAAAGGACGGGTTGGGGTCATTGTCTCCCAATAGAGGCTGCGAGGGGATTGGGGCGACTGCCTGCACCCTCTCCAAGGCATGCCTCTCAGGAGCGCCCTCCTGGCACGCGGTCCGAGCACAGACGCGGTCACCACCGGGCTTTTGCTCCAGCCCAGGGGTGCTGTGGTGCAGGCTGCGAGCCTCCCGCCTTCCCAGTGCGCAGGCTGGGCGGCATCGGCGGTGCCTGACCGGGGACCAGCGAAGCACGAGTCTCGACGCAGGACAGGGGCGGCTGCGGGCGCGCGCCCTCCCCTCCCCGTGAGCAGCCTACACCAAGAAGTTTGGATGCTGTGCGACTCCGAGGGGGAGCCTGGCTTTGGAGAGAACCGGAGTGTCTTAGTGAGACGAATTCCGCGCACTCGGACCCCCTGGTGACAGCTGGTGCCCACCGTGCGGCTCCGGAGGCGCATGTCCCCAGGACGCCCTCTCAGGGCTGCGGCTTTCCTGGAGGAAGCCGCGGTTTGCTGAGGCCGCCGCCGCCACCTTCAAGCGGCGGAACCGCTTCCTGCGCCCGGGGCCGGAGCCGAGCGCCGCGCGGAGCACCCGAGGACAGCTGTGGTCTTGACTGCCCTCCCACGCTCCCCACGCGGTCCTCCCGGGCCCTGAGCTCCGCTATCCTGCTCCTCAAAGGGCTCGGCGCGGGCCTCAGGTCCCTGTGACCAGAGGAGCCCAACCGTGTAGTCCGGCAGACTCCCGCGGTGAGCGCAGCCCGGGCCGCGGGTCCTGCGTGCGGGGGCCGGAGTGTGTGTGTCTGCACCCCCAGGCCCGGGCGGACACCGTTCCGCGCTCGTGATCCGCACGTCCCGACGGCGAGGGCCTCCACCCTCCTGTCGCTGTGCGGCCAGGGCGGAGGCGGGGGAGGTGCAGATTCCAGCGCGGGGAATAACTGTCGGTGGCGGCCGCGGCCAGGGAACCGAGCTCCGCAGGGCAAGAGTCCTCCGCGCAGAGGCAGCAGCGGGGGCGGCCACCTGGGCAGCCGCGAGCGGGGAGGGCGGAGGGGACGGCGGGGCGTCCAGGGGTCGGCAGGAGGAGGAGAAGTCGTCAAAATAATAAAGAGGATGATAAATGCCTTGTCCGGCTCCTTTTCTCCGACACATTCAAAGGGCTTAAACTTGTCAGAGCTGCCCAAAGCAGCAGAGCCTGGAGCCCCGGGGTCGCCTAG
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Task1_train_16232
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Given this variant in gene FGF3, LOC109115964 (fibroblast growth factor 3| FGF3 5' regulatory region) on Chromosome 11, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Deafness with labyrinthine aplasia, microtia, and microdontia
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CCCTGGCTTTCATTCGAGCCTCACAACACCTTGCCAGCTGCCATCATCATCCGACAGACAAGCAAGTGGGGACCACTATGGCTGGGTGACTGTCAGGCCCCTGCACATGTGCTTGAGCGGGAAATCAAGCCCTGGCGGCAGCCATGGGAGTCTGAGCTCTGGGACTGCACGGTCCCCAATGCCTGTGCCTGCCAGCGGGAAAGCTGGGCCCTGATGAGCCAGGCTGATAATATAAACCACTGGCAATAACACAGCCAGGGTGCCTGCCACCCAGATCATGCTGGCAATAGACCTGGCGGGAGATCATTGTACTCGCCGGGGGACCTGGAAGGGCAGGAAGCCAGTTTAGACCCTGGAGCCCGCAGAGGGAAGCTGGACGGGTCTCACCCACTCCCCAGGGATAAGAAAGTTTAAATCTCCCCTCCCGCCTTTCCTTCTGGATACACGAGTGCTGTGGTGGGGGCTGGGGGCGGGGGACTACATCAAAGGACGGGTTGGGGTCATTGTCTCCCAATAGAGGCTGCGAGGGGATTGGGGCGACTGCCTGCACCCTCTCCAAGGCATGCCTCTCAGGAGCGCCCTCCTGGCACGCGGTCCGAGCACAGACGCGGTCACCACCGGGCTTTTGCTCCAGCCCAGGGGTGCTGTGGTGCAGGCTGCGAGCCTCCCGCCTTCCCAGTGCGCAGGCTGGGCGGCATCGGCGGTGCCTGACCGGGGACCAGCGAAGCACGAGTCTCGACGCAGGACAGGGGCGGCTGCGGGCGCGCGCCCTCCCCTCCCCGTGAGCAGCCTACACCAAGAAGTTTGGATGCTGTGCGACTCCGAGGGGGAGCCTGGCTTTGGAGAGAACCGGAGTGTCTTAGTGAGACGAATTCCGCGCACTCGGACCCCCTGGTGACAGCTGGTGCCCACCGTGCGGCTCCGGAGGCGCATGTCCCCAGGACGCCCTCTCAGGGCTGCGGCTTTCCTGGAGGAAGCCGCGGTTTGCTGAGGCCGCCGCCGCCACCTTCAAGCGGCGGAACCGCTTCCTGCGCCCGGGGCCGGAGCCGAGCGCCGCGCGGAGCACCCGAGGACAGCTGTGGTCTTGACTGCCCTCCCACGCTCCCCACGCGGTCCTCCCGGGCCCTGAGCTCCGCTATCCTGCTCCTCAAAGGGCTCGGCGCGGGCCTCAGGTCCCTGTGACCAGAGGAGCCCAACCGTGTAGTCCGGCAGACTCCCGCGGTGAGCGCAGCCCGGGCCGCGGGTCCTGCGTGCGGGGGCCGGAGTGTGTGTGTCTGCACCCCCAGGCCCGGGCGGACACCGTTCCGCGCTCGTGATCCGCACGTCCCGACGGCGAGGGCCTCCACCCTCCTGTCGCTGTGCGGCCAGGGCGGAGGCGGGGGAGGTGCAGATTCCAGCGCGGGGAATAACTGTCGGTGGCGGCCGCGGCCAGGGAACCGAGCTCCGCAGGGCAAGAGTCCTCCGCGCAGAGGCAGCAGCGGGGGCGGCCACCTGGGCAGCCGCGAGCGGGGAGGGCGGAGGGGACGGCGGGGCGTCCAGGGGTCGGCAGGAGGAGGAGAAGTCGTCAAAATAATAAAGAGGATGATAAATGCCTTGTCCGGCTCCTTTTCTCCGACACATTCAAAGGGCTTAAACTTGTCAGAGCTGCCCAAAGCAGCAGAGCCTGGAGCCCCGGGGTCGCCTAGCTCGCGTCCCCTCAGACCAGCGGGCCGGACCGGGGACGGACTCTGACAGCCGCCGGCGCCCTCTTCGGACGTGAACGCCCATGCCCCCGAGTTCTGCTCGAACCCCAGCGCGCGCTCTTCTCCCGGACGTGTAGGTTGAGGAGGGCACCCTGGCATTCCCCTTCTGGCAGCGGGAGGCAGACGGTCTTTTCCCGGACACCCCGGGCGCACCATGCCTTCTCCCGGGCCAGACCCCTCCCCGGCGCCGCCTCCCCCGCGGGGCCCCGCAGCGCGCCTTCTCCCGGGCCCGACCCCTCCCGGCGCCGCTTCCCCCGGGGCCCCGCAGCGTCCGGCACTCACTGTAGGCGCTGTTCTCCAGGCTGCCGTTGACGCGGCCGCTCGGGTGCAGCTGGAGGTGGTACTTCGTGGCGCAGTAGAGCTTGCGGCGCCGGGGCGCCCCGCCAAGGTGCTCGTAGACGCCGCCACGGCCGCCCGCATCGCGCCGCAACCGCGCCCCAGGGCCCGCTGCGGGCCAGCCGGGCTCCAGCAGGCTGAGCAGTAGCAGCCAGATTAGGCCCATCGTGGCATCGCGCCCGCCCCGCGGCGGCGGCGGCTGCAGGCGAGCGCGGCGCCCATGGAAGGGGCGGCAGCCGGACAGCTGCGAGGTGCTCGGAGCGGGATCCCGCGCCTGGAGATGCTGACTCCGGCTTCGCGGGAAAGGTGGGGGAAGAAGGGGGAAGGGTGGGCGAGAGAGAGAAAGAGAGGGAGAGTGGGAGAGGGAGAGGGAGAGAGGGAACGCGAGTCCCTTTAATTTCCACCCAGGAGCAATGAAATTTCCGTTGCTGCGCAAAGCGCTGAAAGAAAGGACGGTTCGCCAACAAAAGGCCGACGTGGTCCCCAGGCGGAGGCGCGGGAGGGGCGGGAGGCCGGCGGGTGGGGAGCCCCGCGGGGCTCGGGGTTCGGGCCGGGCGCCGTCTGCATACACTCGCCGCCAGCGCACCGCCGTCGAGCCGCGGCTCCGCTCCGCAGCGCGCCCCACGCCCCCGAAAGCCCTCCTGGCTCTGAAAGGTCCCCTACCCGCCCCTCCCCCGCCCCCTCCCCCAGACCAATTATGCCTCCGAAAATTATAGACCGAGGCCTTGAGGAGGCCGCCCCAGGCCCTGTCACCCCCTCCCGCTCCCCATCAATCCCCCTGCACAATGGGGCCGCCGCCGATGACTGATGTCCGTGAAAACAACTTGCGGGGAAGTCGAGCTGACAAACGCCCATTAAAGGCGGCGCATAATGAAGGGGACCGCGGAGGGCGGCGGCAGGGAGGCTCCGGGGCGCGGGCACGCGTGGGGAGCTCCGGGTTTGTGTCTGCGCCCGGCGCTTCCTGCAGGAGCAGTGGCGCTGTCCTCAGCCTTGCAAGGCGCGGGGCAGGCCGGGTCTGGAGATGCTATCTCCTTTTGCGCACACCAACTGGGCACCCGGAGTGGTGGGGTTAGCTCTCGTCTGGCAGGCCTCGGAGGATCCCGTCCCAGTGACGGTCCAGAGAGGGGCCTGGGGAGGCGGGAGGAGGGACGCGAGAGCCAGAGAAGTGGGCGCCGACAGAGAGCCCTAGAGAGAAAGAGATGCAGATAGAGACAGACAGAAACGGAGGAGGAAAGGACGGGAAAGACATGGAAAATGTGAATGACAGAGATCGCCAAAAAGAGGAGGCAGGGGAGATGGAAAGAAGACAGAGCCGCGGAGAACACCCAGAGAAAAGCACAGGGAGTCTGGTAGCCACAGCGGGTGGGTGATGACAAGAGGAACCCGGTAGAAGCTGGGAATGGGTGTGGGGGAGTCCTGGCCTGGAGGATCTGAATCAGTGCAGATGCCCAGGTGGTCCCCTGGACTGTGTGGGGGTCAAGGTGTATCTCAGGGGGCCCAGTGAAGAGGGGCTTCAAAAAGTATCGGGAAAAGCCATGTCCCCACCCATTTCTCTTGCTTCCTGGTCCTCTGTCCCCCAGGGTCCTGGGGCCAGCAGGAAGCAGGGGCCAGCACAGGGGATTTGCTTCTCTCAACCCTGCCCCAGAGGAGGGCACGCTGTGGAGTCCAGGGGTCTAGGCCACAGCTTTGGCTCCAAGTTGACCAGGGGCTCTGGGGTGAGTTGGGTGGGCTGACATTCCCCAGCCTGCCATCTGCATCAGGGTTTGGGGTCAGGCAAGTGTGCAGGGCACCATGAGCTGTGGCAGTGAGCACACACCCCTGGGACGTGTCCAGCTCCCATGGCCCAATACACACAGGGCAGTGTGTCCTCTGTGAGCCCACTCCAGCGTGCACAGGGTCCAGGTGGCCATCCTGAAGGAGGGCGCCCCCAAGCCATCCCCGAGCACCTCAGTCTTAGTCAGGGTCTCCTAGCCGCTGCCCCAGGGCCAGCTTGTGAGAGTCCTTGAACAGGCCAGAGG
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CCCTGGCTTTCATTCGAGCCTCACAACACCTTGCCAGCTGCCATCATCATCCGACAGACAAGCAAGTGGGGACCACTATGGCTGGGTGACTGTCAGGCCCCTGCACATGTGCTTGAGCGGGAAATCAAGCCCTGGCGGCAGCCATGGGAGTCTGAGCTCTGGGACTGCACGGTCCCCAATGCCTGTGCCTGCCAGCGGGAAAGCTGGGCCCTGATGAGCCAGGCTGATAATATAAACCACTGGCAATAACACAGCCAGGGTGCCTGCCACCCAGATCATGCTGGCAATAGACCTGGCGGGAGATCATTGTACTCGCCGGGGGACCTGGAAGGGCAGGAAGCCAGTTTAGACCCTGGAGCCCGCAGAGGGAAGCTGGACGGGTCTCACCCACTCCCCAGGGATAAGAAAGTTTAAATCTCCCCTCCCGCCTTTCCTTCTGGATACACGAGTGCTGTGGTGGGGGCTGGGGGCGGGGGACTACATCAAAGGACGGGTTGGGGTCATTGTCTCCCAATAGAGGCTGCGAGGGGATTGGGGCGACTGCCTGCACCCTCTCCAAGGCATGCCTCTCAGGAGCGCCCTCCTGGCACGCGGTCCGAGCACAGACGCGGTCACCACCGGGCTTTTGCTCCAGCCCAGGGGTGCTGTGGTGCAGGCTGCGAGCCTCCCGCCTTCCCAGTGCGCAGGCTGGGCGGCATCGGCGGTGCCTGACCGGGGACCAGCGAAGCACGAGTCTCGACGCAGGACAGGGGCGGCTGCGGGCGCGCGCCCTCCCCTCCCCGTGAGCAGCCTACACCAAGAAGTTTGGATGCTGTGCGACTCCGAGGGGGAGCCTGGCTTTGGAGAGAACCGGAGTGTCTTAGTGAGACGAATTCCGCGCACTCGGACCCCCTGGTGACAGCTGGTGCCCACCGTGCGGCTCCGGAGGCGCATGTCCCCAGGACGCCCTCTCAGGGCTGCGGCTTTCCTGGAGGAAGCCGCGGTTTGCTGAGGCCGCCGCCGCCACCTTCAAGCGGCGGAACCGCTTCCTGCGCCCGGGGCCGGAGCCGAGCGCCGCGCGGAGCACCCGAGGACAGCTGTGGTCTTGACTGCCCTCCCACGCTCCCCACGCGGTCCTCCCGGGCCCTGAGCTCCGCTATCCTGCTCCTCAAAGGGCTCGGCGCGGGCCTCAGGTCCCTGTGACCAGAGGAGCCCAACCGTGTAGTCCGGCAGACTCCCGCGGTGAGCGCAGCCCGGGCCGCGGGTCCTGCGTGCGGGGGCCGGAGTGTGTGTGTCTGCACCCCCAGGCCCGGGCGGACACCGTTCCGCGCTCGTGATCCGCACGTCCCGACGGCGAGGGCCTCCACCCTCCTGTCGCTGTGCGGCCAGGGCGGAGGCGGGGGAGGTGCAGATTCCAGCGCGGGGAATAACTGTCGGTGGCGGCCGCGGCCAGGGAACCGAGCTCCGCAGGGCAAGAGTCCTCCGCGCAGAGGCAGCAGCGGGGGCGGCCACCTGGGCAGCCGCGAGCGGGGAGGGCGGAGGGGACGGCGGGGCGTCCAGGGGTCGGCAGGAGGAGGAGAAGTCGTCAAAATAATAAAGAGGATGATAAATGCCTTGTCCGGCTCCTTTTCTCCGACACATTCAAAGGGCTTAAACTTGTCAGAGCTGCCCAAAGCAGCAGAGCCTGGAGCCCCGGGGTCGCCTAGCTCGCGTCCCCTCAGACCAGCGGGCCGGACCGGGGACGGACTCTGACAGCCGCCGGCGCCCTCTTCGGACGTGAACGCCCATGCCCCCGAGTTCTGCTCGAACCCCAGCGCGCGCTCTTCTCCCGGACGTGTAGGTTGAGGAGGGCACCCTGGCATTCCCCTTCTGGCAGCGGGAGGCAGACGGTCTTTTCCCGGACACCCCGGGCGCACCATGCCTTCTCCCGGGCCAGACCCCTCCCCGGCGCCGCCTCCCCCGCGGGGCCCCGCAGCGCGCCTTCTCCCGGGCCCGACCCCTCCCGGCGCCGCTTCCCCCGGGGCCCCGCAGCGTCCGGCACTCACTGTAGGCGCTGTTCTCCAGGCTGCAGTTGACGCGGCCGCTCGGGTGCAGCTGGAGGTGGTACTTCGTGGCGCAGTAGAGCTTGCGGCGCCGGGGCGCCCCGCCAAGGTGCTCGTAGACGCCGCCACGGCCGCCCGCATCGCGCCGCAACCGCGCCCCAGGGCCCGCTGCGGGCCAGCCGGGCTCCAGCAGGCTGAGCAGTAGCAGCCAGATTAGGCCCATCGTGGCATCGCGCCCGCCCCGCGGCGGCGGCGGCTGCAGGCGAGCGCGGCGCCCATGGAAGGGGCGGCAGCCGGACAGCTGCGAGGTGCTCGGAGCGGGATCCCGCGCCTGGAGATGCTGACTCCGGCTTCGCGGGAAAGGTGGGGGAAGAAGGGGGAAGGGTGGGCGAGAGAGAGAAAGAGAGGGAGAGTGGGAGAGGGAGAGGGAGAGAGGGAACGCGAGTCCCTTTAATTTCCACCCAGGAGCAATGAAATTTCCGTTGCTGCGCAAAGCGCTGAAAGAAAGGACGGTTCGCCAACAAAAGGCCGACGTGGTCCCCAGGCGGAGGCGCGGGAGGGGCGGGAGGCCGGCGGGTGGGGAGCCCCGCGGGGCTCGGGGTTCGGGCCGGGCGCCGTCTGCATACACTCGCCGCCAGCGCACCGCCGTCGAGCCGCGGCTCCGCTCCGCAGCGCGCCCCACGCCCCCGAAAGCCCTCCTGGCTCTGAAAGGTCCCCTACCCGCCCCTCCCCCGCCCCCTCCCCCAGACCAATTATGCCTCCGAAAATTATAGACCGAGGCCTTGAGGAGGCCGCCCCAGGCCCTGTCACCCCCTCCCGCTCCCCATCAATCCCCCTGCACAATGGGGCCGCCGCCGATGACTGATGTCCGTGAAAACAACTTGCGGGGAAGTCGAGCTGACAAACGCCCATTAAAGGCGGCGCATAATGAAGGGGACCGCGGAGGGCGGCGGCAGGGAGGCTCCGGGGCGCGGGCACGCGTGGGGAGCTCCGGGTTTGTGTCTGCGCCCGGCGCTTCCTGCAGGAGCAGTGGCGCTGTCCTCAGCCTTGCAAGGCGCGGGGCAGGCCGGGTCTGGAGATGCTATCTCCTTTTGCGCACACCAACTGGGCACCCGGAGTGGTGGGGTTAGCTCTCGTCTGGCAGGCCTCGGAGGATCCCGTCCCAGTGACGGTCCAGAGAGGGGCCTGGGGAGGCGGGAGGAGGGACGCGAGAGCCAGAGAAGTGGGCGCCGACAGAGAGCCCTAGAGAGAAAGAGATGCAGATAGAGACAGACAGAAACGGAGGAGGAAAGGACGGGAAAGACATGGAAAATGTGAATGACAGAGATCGCCAAAAAGAGGAGGCAGGGGAGATGGAAAGAAGACAGAGCCGCGGAGAACACCCAGAGAAAAGCACAGGGAGTCTGGTAGCCACAGCGGGTGGGTGATGACAAGAGGAACCCGGTAGAAGCTGGGAATGGGTGTGGGGGAGTCCTGGCCTGGAGGATCTGAATCAGTGCAGATGCCCAGGTGGTCCCCTGGACTGTGTGGGGGTCAAGGTGTATCTCAGGGGGCCCAGTGAAGAGGGGCTTCAAAAAGTATCGGGAAAAGCCATGTCCCCACCCATTTCTCTTGCTTCCTGGTCCTCTGTCCCCCAGGGTCCTGGGGCCAGCAGGAAGCAGGGGCCAGCACAGGGGATTTGCTTCTCTCAACCCTGCCCCAGAGGAGGGCACGCTGTGGAGTCCAGGGGTCTAGGCCACAGCTTTGGCTCCAAGTTGACCAGGGGCTCTGGGGTGAGTTGGGTGGGCTGACATTCCCCAGCCTGCCATCTGCATCAGGGTTTGGGGTCAGGCAAGTGTGCAGGGCACCATGAGCTGTGGCAGTGAGCACACACCCCTGGGACGTGTCCAGCTCCCATGGCCCAATACACACAGGGCAGTGTGTCCTCTGTGAGCCCACTCCAGCGTGCACAGGGTCCAGGTGGCCATCCTGAAGGAGGGCGCCCCCAAGCCATCCCCGAGCACCTCAGTCTTAGTCAGGGTCTCCTAGCCGCTGCCCCAGGGCCAGCTTGTGAGAGTCCTTGAACAGGCCAGAGG
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Task1_train_16233
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Mutation context: Chromosome 11, Gene FGF3, LOC109115964 (fibroblast growth factor 3| FGF3 5' regulatory region). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Deafness with labyrinthine aplasia, microtia, and microdontia
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TGCCTGTGCCTGCCAGCGGGAAAGCTGGGCCCTGATGAGCCAGGCTGATAATATAAACCACTGGCAATAACACAGCCAGGGTGCCTGCCACCCAGATCATGCTGGCAATAGACCTGGCGGGAGATCATTGTACTCGCCGGGGGACCTGGAAGGGCAGGAAGCCAGTTTAGACCCTGGAGCCCGCAGAGGGAAGCTGGACGGGTCTCACCCACTCCCCAGGGATAAGAAAGTTTAAATCTCCCCTCCCGCCTTTCCTTCTGGATACACGAGTGCTGTGGTGGGGGCTGGGGGCGGGGGACTACATCAAAGGACGGGTTGGGGTCATTGTCTCCCAATAGAGGCTGCGAGGGGATTGGGGCGACTGCCTGCACCCTCTCCAAGGCATGCCTCTCAGGAGCGCCCTCCTGGCACGCGGTCCGAGCACAGACGCGGTCACCACCGGGCTTTTGCTCCAGCCCAGGGGTGCTGTGGTGCAGGCTGCGAGCCTCCCGCCTTCCCAGTGCGCAGGCTGGGCGGCATCGGCGGTGCCTGACCGGGGACCAGCGAAGCACGAGTCTCGACGCAGGACAGGGGCGGCTGCGGGCGCGCGCCCTCCCCTCCCCGTGAGCAGCCTACACCAAGAAGTTTGGATGCTGTGCGACTCCGAGGGGGAGCCTGGCTTTGGAGAGAACCGGAGTGTCTTAGTGAGACGAATTCCGCGCACTCGGACCCCCTGGTGACAGCTGGTGCCCACCGTGCGGCTCCGGAGGCGCATGTCCCCAGGACGCCCTCTCAGGGCTGCGGCTTTCCTGGAGGAAGCCGCGGTTTGCTGAGGCCGCCGCCGCCACCTTCAAGCGGCGGAACCGCTTCCTGCGCCCGGGGCCGGAGCCGAGCGCCGCGCGGAGCACCCGAGGACAGCTGTGGTCTTGACTGCCCTCCCACGCTCCCCACGCGGTCCTCCCGGGCCCTGAGCTCCGCTATCCTGCTCCTCAAAGGGCTCGGCGCGGGCCTCAGGTCCCTGTGACCAGAGGAGCCCAACCGTGTAGTCCGGCAGACTCCCGCGGTGAGCGCAGCCCGGGCCGCGGGTCCTGCGTGCGGGGGCCGGAGTGTGTGTGTCTGCACCCCCAGGCCCGGGCGGACACCGTTCCGCGCTCGTGATCCGCACGTCCCGACGGCGAGGGCCTCCACCCTCCTGTCGCTGTGCGGCCAGGGCGGAGGCGGGGGAGGTGCAGATTCCAGCGCGGGGAATAACTGTCGGTGGCGGCCGCGGCCAGGGAACCGAGCTCCGCAGGGCAAGAGTCCTCCGCGCAGAGGCAGCAGCGGGGGCGGCCACCTGGGCAGCCGCGAGCGGGGAGGGCGGAGGGGACGGCGGGGCGTCCAGGGGTCGGCAGGAGGAGGAGAAGTCGTCAAAATAATAAAGAGGATGATAAATGCCTTGTCCGGCTCCTTTTCTCCGACACATTCAAAGGGCTTAAACTTGTCAGAGCTGCCCAAAGCAGCAGAGCCTGGAGCCCCGGGGTCGCCTAGCTCGCGTCCCCTCAGACCAGCGGGCCGGACCGGGGACGGACTCTGACAGCCGCCGGCGCCCTCTTCGGACGTGAACGCCCATGCCCCCGAGTTCTGCTCGAACCCCAGCGCGCGCTCTTCTCCCGGACGTGTAGGTTGAGGAGGGCACCCTGGCATTCCCCTTCTGGCAGCGGGAGGCAGACGGTCTTTTCCCGGACACCCCGGGCGCACCATGCCTTCTCCCGGGCCAGACCCCTCCCCGGCGCCGCCTCCCCCGCGGGGCCCCGCAGCGCGCCTTCTCCCGGGCCCGACCCCTCCCGGCGCCGCTTCCCCCGGGGCCCCGCAGCGTCCGGCACTCACTGTAGGCGCTGTTCTCCAGGCTGCCGTTGACGCGGCCGCTCGGGTGCAGCTGGAGGTGGTACTTCGTGGCGCAGTAGAGCTTGCGGCGCCGGGGCGCCCCGCCAAGGTGCTCGTAGACGCCGCCACGGCCGCCCGCATCGCGCCGCAACCGCGCCCCAGGGCCCGCTGCGGGCCAGCCGGGCTCCAGCAGGCTGAGCAGTAGCAGCCAGATTAGGCCCATCGTGGCATCGCGCCCGCCCCGCGGCGGCGGCGGCTGCAGGCGAGCGCGGCGCCCATGGAAGGGGCGGCAGCCGGACAGCTGCGAGGTGCTCGGAGCGGGATCCCGCGCCTGGAGATGCTGACTCCGGCTTCGCGGGAAAGGTGGGGGAAGAAGGGGGAAGGGTGGGCGAGAGAGAGAAAGAGAGGGAGAGTGGGAGAGGGAGAGGGAGAGAGGGAACGCGAGTCCCTTTAATTTCCACCCAGGAGCAATGAAATTTCCGTTGCTGCGCAAAGCGCTGAAAGAAAGGACGGTTCGCCAACAAAAGGCCGACGTGGTCCCCAGGCGGAGGCGCGGGAGGGGCGGGAGGCCGGCGGGTGGGGAGCCCCGCGGGGCTCGGGGTTCGGGCCGGGCGCCGTCTGCATACACTCGCCGCCAGCGCACCGCCGTCGAGCCGCGGCTCCGCTCCGCAGCGCGCCCCACGCCCCCGAAAGCCCTCCTGGCTCTGAAAGGTCCCCTACCCGCCCCTCCCCCGCCCCCTCCCCCAGACCAATTATGCCTCCGAAAATTATAGACCGAGGCCTTGAGGAGGCCGCCCCAGGCCCTGTCACCCCCTCCCGCTCCCCATCAATCCCCCTGCACAATGGGGCCGCCGCCGATGACTGATGTCCGTGAAAACAACTTGCGGGGAAGTCGAGCTGACAAACGCCCATTAAAGGCGGCGCATAATGAAGGGGACCGCGGAGGGCGGCGGCAGGGAGGCTCCGGGGCGCGGGCACGCGTGGGGAGCTCCGGGTTTGTGTCTGCGCCCGGCGCTTCCTGCAGGAGCAGTGGCGCTGTCCTCAGCCTTGCAAGGCGCGGGGCAGGCCGGGTCTGGAGATGCTATCTCCTTTTGCGCACACCAACTGGGCACCCGGAGTGGTGGGGTTAGCTCTCGTCTGGCAGGCCTCGGAGGATCCCGTCCCAGTGACGGTCCAGAGAGGGGCCTGGGGAGGCGGGAGGAGGGACGCGAGAGCCAGAGAAGTGGGCGCCGACAGAGAGCCCTAGAGAGAAAGAGATGCAGATAGAGACAGACAGAAACGGAGGAGGAAAGGACGGGAAAGACATGGAAAATGTGAATGACAGAGATCGCCAAAAAGAGGAGGCAGGGGAGATGGAAAGAAGACAGAGCCGCGGAGAACACCCAGAGAAAAGCACAGGGAGTCTGGTAGCCACAGCGGGTGGGTGATGACAAGAGGAACCCGGTAGAAGCTGGGAATGGGTGTGGGGGAGTCCTGGCCTGGAGGATCTGAATCAGTGCAGATGCCCAGGTGGTCCCCTGGACTGTGTGGGGGTCAAGGTGTATCTCAGGGGGCCCAGTGAAGAGGGGCTTCAAAAAGTATCGGGAAAAGCCATGTCCCCACCCATTTCTCTTGCTTCCTGGTCCTCTGTCCCCCAGGGTCCTGGGGCCAGCAGGAAGCAGGGGCCAGCACAGGGGATTTGCTTCTCTCAACCCTGCCCCAGAGGAGGGCACGCTGTGGAGTCCAGGGGTCTAGGCCACAGCTTTGGCTCCAAGTTGACCAGGGGCTCTGGGGTGAGTTGGGTGGGCTGACATTCCCCAGCCTGCCATCTGCATCAGGGTTTGGGGTCAGGCAAGTGTGCAGGGCACCATGAGCTGTGGCAGTGAGCACACACCCCTGGGACGTGTCCAGCTCCCATGGCCCAATACACACAGGGCAGTGTGTCCTCTGTGAGCCCACTCCAGCGTGCACAGGGTCCAGGTGGCCATCCTGAAGGAGGGCGCCCCCAAGCCATCCCCGAGCACCTCAGTCTTAGTCAGGGTCTCCTAGCCGCTGCCCCAGGGCCAGCTTGTGAGAGTCCTTGAACAGGCCAGAGGCCAGCCACTGAACTACTGGAGCCTCAGACTCTTGATGGAGACTGTGTTACAGGGGTCAGAGGCTGGTGACAGGAAAGCCCCAAAGGACAGCAGCAAGAGGAGAGCTTGTCCAGTGCAGCCCTGTGCAGGCCTGGGCTGGGATGTGTGGTCACCTGGGCTCCCTAAGAGGCATGGAAGAG
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TGCCTGTGCCTGCCAGCGGGAAAGCTGGGCCCTGATGAGCCAGGCTGATAATATAAACCACTGGCAATAACACAGCCAGGGTGCCTGCCACCCAGATCATGCTGGCAATAGACCTGGCGGGAGATCATTGTACTCGCCGGGGGACCTGGAAGGGCAGGAAGCCAGTTTAGACCCTGGAGCCCGCAGAGGGAAGCTGGACGGGTCTCACCCACTCCCCAGGGATAAGAAAGTTTAAATCTCCCCTCCCGCCTTTCCTTCTGGATACACGAGTGCTGTGGTGGGGGCTGGGGGCGGGGGACTACATCAAAGGACGGGTTGGGGTCATTGTCTCCCAATAGAGGCTGCGAGGGGATTGGGGCGACTGCCTGCACCCTCTCCAAGGCATGCCTCTCAGGAGCGCCCTCCTGGCACGCGGTCCGAGCACAGACGCGGTCACCACCGGGCTTTTGCTCCAGCCCAGGGGTGCTGTGGTGCAGGCTGCGAGCCTCCCGCCTTCCCAGTGCGCAGGCTGGGCGGCATCGGCGGTGCCTGACCGGGGACCAGCGAAGCACGAGTCTCGACGCAGGACAGGGGCGGCTGCGGGCGCGCGCCCTCCCCTCCCCGTGAGCAGCCTACACCAAGAAGTTTGGATGCTGTGCGACTCCGAGGGGGAGCCTGGCTTTGGAGAGAACCGGAGTGTCTTAGTGAGACGAATTCCGCGCACTCGGACCCCCTGGTGACAGCTGGTGCCCACCGTGCGGCTCCGGAGGCGCATGTCCCCAGGACGCCCTCTCAGGGCTGCGGCTTTCCTGGAGGAAGCCGCGGTTTGCTGAGGCCGCCGCCGCCACCTTCAAGCGGCGGAACCGCTTCCTGCGCCCGGGGCCGGAGCCGAGCGCCGCGCGGAGCACCCGAGGACAGCTGTGGTCTTGACTGCCCTCCCACGCTCCCCACGCGGTCCTCCCGGGCCCTGAGCTCCGCTATCCTGCTCCTCAAAGGGCTCGGCGCGGGCCTCAGGTCCCTGTGACCAGAGGAGCCCAACCGTGTAGTCCGGCAGACTCCCGCGGTGAGCGCAGCCCGGGCCGCGGGTCCTGCGTGCGGGGGCCGGAGTGTGTGTGTCTGCACCCCCAGGCCCGGGCGGACACCGTTCCGCGCTCGTGATCCGCACGTCCCGACGGCGAGGGCCTCCACCCTCCTGTCGCTGTGCGGCCAGGGCGGAGGCGGGGGAGGTGCAGATTCCAGCGCGGGGAATAACTGTCGGTGGCGGCCGCGGCCAGGGAACCGAGCTCCGCAGGGCAAGAGTCCTCCGCGCAGAGGCAGCAGCGGGGGCGGCCACCTGGGCAGCCGCGAGCGGGGAGGGCGGAGGGGACGGCGGGGCGTCCAGGGGTCGGCAGGAGGAGGAGAAGTCGTCAAAATAATAAAGAGGATGATAAATGCCTTGTCCGGCTCCTTTTCTCCGACACATTCAAAGGGCTTAAACTTGTCAGAGCTGCCCAAAGCAGCAGAGCCTGGAGCCCCGGGGTCGCCTAGCTCGCGTCCCCTCAGACCAGCGGGCCGGACCGGGGACGGACTCTGACAGCCGCCGGCGCCCTCTTCGGACGTGAACGCCCATGCCCCCGAGTTCTGCTCGAACCCCAGCGCGCGCTCTTCTCCCGGACGTGTAGGTTGAGGAGGGCACCCTGGCATTCCCCTTCTGGCAGCGGGAGGCAGACGGTCTTTTCCCGGACACCCCGGGCGCACCATGCCTTCTCCCGGGCCAGACCCCTCCCCGGCGCCGCCTCCCCCGCGGGGCCCCGCAGCGCGCCTTCTCCCGGGCCCGACCCCTCCCGGCGCCGCTTCCCCCGGGGCCCCGCAGCGTCCGGCACTCACTGTAGGCGCTGTTCTCCAGGCTGCCGTTGACGCGGCCGCTCGGGTGCAGCTGGAGGTGGTACTTCGTGGCGCAGTAGAGCTTGCGGCGCCGGGGCGCCCCGCCAAGGTGCTCGTAGACGCCGCCACGGCCGCCCGCATCGCGCCGCAACCGCGCCCCAGGGCCCGCTGCGGGCCAGCCGGGCTCCAGCAGGCTGAGCAGTAGCGGCCAGATTAGGCCCATCGTGGCATCGCGCCCGCCCCGCGGCGGCGGCGGCTGCAGGCGAGCGCGGCGCCCATGGAAGGGGCGGCAGCCGGACAGCTGCGAGGTGCTCGGAGCGGGATCCCGCGCCTGGAGATGCTGACTCCGGCTTCGCGGGAAAGGTGGGGGAAGAAGGGGGAAGGGTGGGCGAGAGAGAGAAAGAGAGGGAGAGTGGGAGAGGGAGAGGGAGAGAGGGAACGCGAGTCCCTTTAATTTCCACCCAGGAGCAATGAAATTTCCGTTGCTGCGCAAAGCGCTGAAAGAAAGGACGGTTCGCCAACAAAAGGCCGACGTGGTCCCCAGGCGGAGGCGCGGGAGGGGCGGGAGGCCGGCGGGTGGGGAGCCCCGCGGGGCTCGGGGTTCGGGCCGGGCGCCGTCTGCATACACTCGCCGCCAGCGCACCGCCGTCGAGCCGCGGCTCCGCTCCGCAGCGCGCCCCACGCCCCCGAAAGCCCTCCTGGCTCTGAAAGGTCCCCTACCCGCCCCTCCCCCGCCCCCTCCCCCAGACCAATTATGCCTCCGAAAATTATAGACCGAGGCCTTGAGGAGGCCGCCCCAGGCCCTGTCACCCCCTCCCGCTCCCCATCAATCCCCCTGCACAATGGGGCCGCCGCCGATGACTGATGTCCGTGAAAACAACTTGCGGGGAAGTCGAGCTGACAAACGCCCATTAAAGGCGGCGCATAATGAAGGGGACCGCGGAGGGCGGCGGCAGGGAGGCTCCGGGGCGCGGGCACGCGTGGGGAGCTCCGGGTTTGTGTCTGCGCCCGGCGCTTCCTGCAGGAGCAGTGGCGCTGTCCTCAGCCTTGCAAGGCGCGGGGCAGGCCGGGTCTGGAGATGCTATCTCCTTTTGCGCACACCAACTGGGCACCCGGAGTGGTGGGGTTAGCTCTCGTCTGGCAGGCCTCGGAGGATCCCGTCCCAGTGACGGTCCAGAGAGGGGCCTGGGGAGGCGGGAGGAGGGACGCGAGAGCCAGAGAAGTGGGCGCCGACAGAGAGCCCTAGAGAGAAAGAGATGCAGATAGAGACAGACAGAAACGGAGGAGGAAAGGACGGGAAAGACATGGAAAATGTGAATGACAGAGATCGCCAAAAAGAGGAGGCAGGGGAGATGGAAAGAAGACAGAGCCGCGGAGAACACCCAGAGAAAAGCACAGGGAGTCTGGTAGCCACAGCGGGTGGGTGATGACAAGAGGAACCCGGTAGAAGCTGGGAATGGGTGTGGGGGAGTCCTGGCCTGGAGGATCTGAATCAGTGCAGATGCCCAGGTGGTCCCCTGGACTGTGTGGGGGTCAAGGTGTATCTCAGGGGGCCCAGTGAAGAGGGGCTTCAAAAAGTATCGGGAAAAGCCATGTCCCCACCCATTTCTCTTGCTTCCTGGTCCTCTGTCCCCCAGGGTCCTGGGGCCAGCAGGAAGCAGGGGCCAGCACAGGGGATTTGCTTCTCTCAACCCTGCCCCAGAGGAGGGCACGCTGTGGAGTCCAGGGGTCTAGGCCACAGCTTTGGCTCCAAGTTGACCAGGGGCTCTGGGGTGAGTTGGGTGGGCTGACATTCCCCAGCCTGCCATCTGCATCAGGGTTTGGGGTCAGGCAAGTGTGCAGGGCACCATGAGCTGTGGCAGTGAGCACACACCCCTGGGACGTGTCCAGCTCCCATGGCCCAATACACACAGGGCAGTGTGTCCTCTGTGAGCCCACTCCAGCGTGCACAGGGTCCAGGTGGCCATCCTGAAGGAGGGCGCCCCCAAGCCATCCCCGAGCACCTCAGTCTTAGTCAGGGTCTCCTAGCCGCTGCCCCAGGGCCAGCTTGTGAGAGTCCTTGAACAGGCCAGAGGCCAGCCACTGAACTACTGGAGCCTCAGACTCTTGATGGAGACTGTGTTACAGGGGTCAGAGGCTGGTGACAGGAAAGCCCCAAAGGACAGCAGCAAGAGGAGAGCTTGTCCAGTGCAGCCCTGTGCAGGCCTGGGCTGGGATGTGTGGTCACCTGGGCTCCCTAAGAGGCATGGAAGAG
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Task1_train_16234
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The gene FADD (Fas associated via death domain), on Chromosome 11, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; FADD-related immunodeficiency
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AATACTAGCATTCAGTAACTCCTACCCAGGGGCTTACAGTGTGCCGCTTACCCTTGTAACTGCCAAATACAATTTTCGCAGTAGCCCTGTGGCTTAGATACTGTTAGCTATCACTGTTCCCATTTTACAGAGGACAGGACTGTGGCTCACAGGTTAAGTGGCTTTGTCGAAATGCGCAGCCGATAACTGACGGAGCTAGGCTTGAGCCAAGCAGTCCGGCCTCCGGATGGGTAGTGTTAGCCACTACACTGCCTCTCTGGTCAAGTTCATTGTGGAGTGGCTTCCTGTCCTGCTCTCGGTCACTCCCTCTCCACCCTCGCCTGTGGATTGCAGCAGCTTCCAGGATAAAAAAGAAACCCTGAGTACAGCAGAGTTTCTCAGCCCTACCCCCCTTGTTCTCAGAGTCGGGAGAGGCTTGGGAGTGCTCTGGGGACGCCTCTCAGAGGCTTCAAGCTGTAGCTTGGAATCAGCCATTCAGTCACCAATCAGATAGGGCCTAAATGTGTCACCATGGGTTTCACTCTGTAAAGACTGGTGCCTGTTGGGGACAGGATGGACAGAACAGCTCTCTGCCTGAGAGCAGTCAAGTCCAGATTTTAAAAAAAATCAGTACTGAACAAACAAAACAGGACGTAGAAAAATCGGGTTTTATGGATATTTAATGTCTGGAAAAACACTGATAAATTGCATTTTAAAGGCGGTCTACGAAACATAGCTGACATTTGAGATGTATGTGTGCTTGGTTTTATTTATATCGTCATGTAGTTACTGTGTGCTGGGAAAAGTACACCAGAAGGTGAGCGGTGGGTATGGACAGGTTGGTAGCGGGCGACTCTGCCTTCCTCCCCAGAAGTTCAGCATAGCGGTTAAGGGTCGACTCTGGCACCACACTCTTAGGGTTTCAGAACATGGCTCTGCCATCGTCTAGCTACACGATCTCAGGAATGTCCATTAGCTTCCCTGTGCCTCAATTTCCTCATCTGTACAGTCATGGTAACACAGTGCCCAGCCCACAGGGCTGTCAGAGCTGCGGGAGCTGGTACACCTGCCAACGGTGTCTCAGAATTGCCAGTAGTCCAAGCAGCACCCTGTCCTGCCTCTCCTTTCCTCTCTTCACATTCCAGAAGCGGCCTTTTATGGTCTTGTGACCAGCTCCCTGATCTCAGTGGTGACGTCAGCAGATGAGGAGTATGGTAGCCAGGGACTGAAGACTGGTGGTCACTCGGGGCAGCTTTCTAAATAACAATTGGAGTGCCTACTAGTTTCCTGTGATTGCCATAACAAATGATCACAAATCTGGTGGCCTGAAGCAATAGAAATCTACCCCCTCAATCTGGAGGCCAGAAATCTGAATAAGCAGGGTGCCACAGACCGGCACACCCTCGGAATGCTGTTGGGGAGGCTCCTTCCGGGTCTCGTCCGCTTTGTGGTGGCTCCAGGCATTCTTTGACTTGTGGCCGCTTCACTCCAGGCTCACACGGCCTTCCCTGTGTGTCTCCTGCAAGGATACCTATCATTGGTGCATCCAGGTCATCCAGGATGATCTCCTCTCAAGACCCTCAGCTTACCTTTGCAAAGATGCTTTTTCCAAAGAACATTCATGGTTTCAGCAATTTCACGTGAACATACCTTGGGGTGACATCGTTCAGCCTGCTGTAGGGCAGGATGTGGGATCAACCCTATTTTCTTCCCTCCCACAACTCCCCAGCCCCTCCCTCAGTGTCTCCTGCTCTAAGTAGGTAGCTCCACTACAACTTCCTTTGGCACTTGAGTCTTCAGTGGGCCACGCCTCCTAGGACAGTATTAGAGAGCAGGGGGTTTGGCTGAGGTGGAATCAGGCCACTCTTGGGCATTTGGTGCAGCCCCTTTGCTGCCAGGCGACTCTAGCCTCTACAGAGGACCTCGTGTAGGCACCTCTGTCCACTCAGCACTTGGCGTCTGTGCTGAAAAGCCCTAGGGAGGATTGTGGGGTCGCTTGTCTCCAAACCTATGGTAAACCGTTCTGTTCTTTCCTTCCCAGACCTGTGTGCAGCATTTAACGTCATATGTGATAATGTGGGGAAAGATTGGAGAAGGCTGGCTCGTCAGCTCAAAGTCTCAGACACCAAGATCGACAGCATCGAGGACAGATACCCCCGCAACCTGACAGAGCGTGTGCGGGAGTCACTGAGAATCTGGAAGAACACAGAGAAGGAGAACGCAACAGTGGCCCACCTGGTGGGGGCTCTCAGGTCCTGCCAGATGAACCTGGTGGCTGACCTGGTACAAGAGGTTCAGCAGGCCCGTGACCTCCAGAACAGGAGTGGGGCCATGTCCCCGATGTCATGGAACTCAGACGCATCTACCTCCGAAGCGTCCTGATGGGCCGCTGCTTTGCGCTGGTGGACCACAGGCATCTACACAGCCTGGACTTTGGTTCTCTCCAGGAAGGTAGCCCAGCACTGTGAAGACCCAGCAGGAAGCCAGGCTGAGTGAGCCACAGACCACCTGCTTCTGAACTCAAGCTGCGTTTATTAATGCCTCTCCCGCACCAGGCCGGGCTTGGGCCCTGCACAGATATTTCCATTTCTTCCTCACTATGACACTGAGCAAGATCTTGTCTCCACTAAATGAGCTCCTGCGGGAGTAGTTGGAAAGTTGGAACCGTGTCCAGCACAGAAGGAATCTGTGCAGATGAGCAGTCACACTGTTACTCCACAGCGGAGGAGACCAGCTCAGAGGCCCAGGAATCGGAGCGAAGCAGAGAGGTGGAGAACTGGGATTTGAACCCCCGCCATCCTTCACCAGAGCCCATGCTCAACCACTGTGGCGTTCTGCTGCCCCTGCAGTTGGCAGAAAGGATGTTTTGTCCCATTTCCTTGGAGGCCACCGGGACAGACCTGGACACTAGGGTCAGGCGGGGTGCTGTGGTGGGGAGAGGCATGGCTGGGGTGGGGGTGGGGAGACCTGGTTGGCCGTGGTCCAGCTCTTGGCCCCTGTGTGAGTTGAGTCTCCTCTCTGAGACTGCTAAGTAGGGGCAGTGATGGTTGCCAGGACGAATTGAGATAATATCTGTGAGGTGCTGATGAGTGATTGACACACAGCACTCTCTAAATCTTCCTTGTGAGGATTATGGGTCCTGCAATTCTACAGTTTCTTACTGTTTTGTATCAAAATCACTATCTTTCTGATAACAGAATTGCCAAGGCAGCGGGATCTCGTATCTTTAAAAAGCAGTCCTCTTATTCCTAAGGTAATCCTATTAAAACACAGCTTTACAACTTCCATACTACAAAAAATTTTCTATTCCTGTTGGTGGTTCTTTCATTTTGGATATGCTGGATATTCCCAGTACAGCCAGTTTGAGGATCCCTGTCAAGGGCTCCAACCTGGGAGGGGTGGCTGGATTTCCTGACAGCTCGCTAGCTGCTCATGAGCAGTGTCTGCCCTTAGCAAACAGTGGTCTGCTAGGGTAGCTTTTGCCGCTCTTAGAATTTGCCTGCACCACCAACAGTATCAGAATCAAAGCCAAGTGGCTATTCTCTGTCCCAGTTCACCAGCTATGACCTTGGGAAAGTCCAGTGTGCCGTCCCATAGGTGGGATCTTAGCCAAGGCCGCAGGACACTGTCCCCAGTAAGCCGTGGACCCCGGCCTTTAAGCCCCTCCACACCTTCACCTGACGCTTCCAGGTGCCAGACTCCTTGCTAGGAGCAAAGGCCATAGGAGTGAATGGGACAGAAGTGTAGCCCTGCCCTGTTGGCCTCAGAAACCTAGCAGAAACAAGCTTTAACCAGTTCATCACTAGCTTGGGGTGCTGCCGTGGCGCTGAGCTGGTTGCTATCCCAAAACAGCGTGGCCTGACCTACACACTGTACACCCCCGACCCGGCGCATGCCTGCTCTCAAGGCGCAGGTCAGGGTGAGTTCTATAGAGAATAGACACATCGCCCCTCACTGTCCCTAAGTGTGAGCAGCTTGGCTTTGGGGAAGAGATTTTCTTGGGGTGCGTGGGAAAGTATTCTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTACAGTGGCATGATCTCGGCTCACTGCGACTTCCACCTCCCAGG
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AATACTAGCATTCAGTAACTCCTACCCAGGGGCTTACAGTGTGCCGCTTACCCTTGTAACTGCCAAATACAATTTTCGCAGTAGCCCTGTGGCTTAGATACTGTTAGCTATCACTGTTCCCATTTTACAGAGGACAGGACTGTGGCTCACAGGTTAAGTGGCTTTGTCGAAATGCGCAGCCGATAACTGACGGAGCTAGGCTTGAGCCAAGCAGTCCGGCCTCCGGATGGGTAGTGTTAGCCACTACACTGCCTCTCTGGTCAAGTTCATTGTGGAGTGGCTTCCTGTCCTGCTCTCGGTCACTCCCTCTCCACCCTCGCCTGTGGATTGCAGCAGCTTCCAGGATAAAAAAGAAACCCTGAGTACAGCAGAGTTTCTCAGCCCTACCCCCCTTGTTCTCAGAGTCGGGAGAGGCTTGGGAGTGCTCTGGGGACGCCTCTCAGAGGCTTCAAGCTGTAGCTTGGAATCAGCCATTCAGTCACCAATCAGATAGGGCCTAAATGTGTCACCATGGGTTTCACTCTGTAAAGACTGGTGCCTGTTGGGGACAGGATGGACAGAACAGCTCTCTGCCTGAGAGCAGTCAAGTCCAGATTTTAAAAAAAATCAGTACTGAACAAACAAAACAGGACGTAGAAAAATCGGGTTTTATGGATATTTAATGTCTGGAAAAACACTGATAAATTGCATTTTAAAGGCGGTCTACGAAACATAGCTGACATTTGAGATGTATGTGTGCTTGGTTTTATTTATATCGTCATGTAGTTACTGTGTGCTGGGAAAAGTACACCAGAAGGTGAGCGGTGGGTATGGACAGGTTGGTAGCGGGCGACTCTGCCTTCCTCCCCAGAAGTTCAGCATAGCGGTTAAGGGTCGACTCTGGCACCACACTCTTAGGGTTTCAGAACATGGCTCTGCCATCGTCTAGCTACACGATCTCAGGAATGTCCATTAGCTTCCCTGTGCCTCAATTTCCTCATCTGTACAGTCATGGTAACACAGTGCCCAGCCCACAGGGCTGTCAGAGCTGCGGGAGCTGGTACACCTGCCAACGGTGTCTCAGAATTGCCAGTAGTCCAAGCAGCACCCTGTCCTGCCTCTCCTTTCCTCTCTTCACATTCCAGAAGCGGCCTTTTATGGTCTTGTGACCAGCTCCCTGATCTCAGTGGTGACGTCAGCAGATGAGGAGTATGGTAGCCAGGGACTGAAGACTGGTGGTCACTCGGGGCAGCTTTCTAAATAACAATTGGAGTGCCTACTAGTTTCCTGTGATTGCCATAACAAATGATCACAAATCTGGTGGCCTGAAGCAATAGAAATCTACCCCCTCAATCTGGAGGCCAGAAATCTGAATAAGCAGGGTGCCACAGACCGGCACACCCTCGGAATGCTGTTGGGGAGGCTCCTTCCGGGTCTCGTCCGCTTTGTGGTGGCTCCAGGCATTCTTTGACTTGTGGCCGCTTCACTCCAGGCTCACACGGCCTTCCCTGTGTGTCTCCTGCAAGGATACCTATCATTGGTGCATCCAGGTCATCCAGGATGATCTCCTCTCAAGACCCTCAGCTTACCTTTGCAAAGATGCTTTTTCCAAAGAACATTCATGGTTTCAGCAATTTCACGTGAACATACCTTGGGGTGACATCGTTCAGCCTGCTGTAGGGCAGGATGTGGGATCAACCCTATTTTCTTCCCTCCCACAACTCCCCAGCCCCTCCCTCAGTGTCTCCTGCTCTAAGTAGGTAGCTCCACTACAACTTCCTTTGGCACTTGAGTCTTCAGTGGGCCACGCCTCCTAGGACAGTATTAGAGAGCAGGGGGTTTGGCTGAGGTGGAATCAGGCCACTCTTGGGCATTTGGTGCAGCCCCTTTGCTGCCAGGCGACTCTAGCCTCTACAGAGGACCTCGTGTAGGCACCTCTGTCCACTCAGCACTTGGCGTCTGTGCTGAAAAGCCCTAGGGAGGATTGTGGGGTCGCTTGTCTCCAAACCTATGGTAAACCGTTCTGTTCTTTCCTTCCCAGACCTGTGTGCAGCATTTAACGTCATATGGGATAATGTGGGGAAAGATTGGAGAAGGCTGGCTCGTCAGCTCAAAGTCTCAGACACCAAGATCGACAGCATCGAGGACAGATACCCCCGCAACCTGACAGAGCGTGTGCGGGAGTCACTGAGAATCTGGAAGAACACAGAGAAGGAGAACGCAACAGTGGCCCACCTGGTGGGGGCTCTCAGGTCCTGCCAGATGAACCTGGTGGCTGACCTGGTACAAGAGGTTCAGCAGGCCCGTGACCTCCAGAACAGGAGTGGGGCCATGTCCCCGATGTCATGGAACTCAGACGCATCTACCTCCGAAGCGTCCTGATGGGCCGCTGCTTTGCGCTGGTGGACCACAGGCATCTACACAGCCTGGACTTTGGTTCTCTCCAGGAAGGTAGCCCAGCACTGTGAAGACCCAGCAGGAAGCCAGGCTGAGTGAGCCACAGACCACCTGCTTCTGAACTCAAGCTGCGTTTATTAATGCCTCTCCCGCACCAGGCCGGGCTTGGGCCCTGCACAGATATTTCCATTTCTTCCTCACTATGACACTGAGCAAGATCTTGTCTCCACTAAATGAGCTCCTGCGGGAGTAGTTGGAAAGTTGGAACCGTGTCCAGCACAGAAGGAATCTGTGCAGATGAGCAGTCACACTGTTACTCCACAGCGGAGGAGACCAGCTCAGAGGCCCAGGAATCGGAGCGAAGCAGAGAGGTGGAGAACTGGGATTTGAACCCCCGCCATCCTTCACCAGAGCCCATGCTCAACCACTGTGGCGTTCTGCTGCCCCTGCAGTTGGCAGAAAGGATGTTTTGTCCCATTTCCTTGGAGGCCACCGGGACAGACCTGGACACTAGGGTCAGGCGGGGTGCTGTGGTGGGGAGAGGCATGGCTGGGGTGGGGGTGGGGAGACCTGGTTGGCCGTGGTCCAGCTCTTGGCCCCTGTGTGAGTTGAGTCTCCTCTCTGAGACTGCTAAGTAGGGGCAGTGATGGTTGCCAGGACGAATTGAGATAATATCTGTGAGGTGCTGATGAGTGATTGACACACAGCACTCTCTAAATCTTCCTTGTGAGGATTATGGGTCCTGCAATTCTACAGTTTCTTACTGTTTTGTATCAAAATCACTATCTTTCTGATAACAGAATTGCCAAGGCAGCGGGATCTCGTATCTTTAAAAAGCAGTCCTCTTATTCCTAAGGTAATCCTATTAAAACACAGCTTTACAACTTCCATACTACAAAAAATTTTCTATTCCTGTTGGTGGTTCTTTCATTTTGGATATGCTGGATATTCCCAGTACAGCCAGTTTGAGGATCCCTGTCAAGGGCTCCAACCTGGGAGGGGTGGCTGGATTTCCTGACAGCTCGCTAGCTGCTCATGAGCAGTGTCTGCCCTTAGCAAACAGTGGTCTGCTAGGGTAGCTTTTGCCGCTCTTAGAATTTGCCTGCACCACCAACAGTATCAGAATCAAAGCCAAGTGGCTATTCTCTGTCCCAGTTCACCAGCTATGACCTTGGGAAAGTCCAGTGTGCCGTCCCATAGGTGGGATCTTAGCCAAGGCCGCAGGACACTGTCCCCAGTAAGCCGTGGACCCCGGCCTTTAAGCCCCTCCACACCTTCACCTGACGCTTCCAGGTGCCAGACTCCTTGCTAGGAGCAAAGGCCATAGGAGTGAATGGGACAGAAGTGTAGCCCTGCCCTGTTGGCCTCAGAAACCTAGCAGAAACAAGCTTTAACCAGTTCATCACTAGCTTGGGGTGCTGCCGTGGCGCTGAGCTGGTTGCTATCCCAAAACAGCGTGGCCTGACCTACACACTGTACACCCCCGACCCGGCGCATGCCTGCTCTCAAGGCGCAGGTCAGGGTGAGTTCTATAGAGAATAGACACATCGCCCCTCACTGTCCCTAAGTGTGAGCAGCTTGGCTTTGGGGAAGAGATTTTCTTGGGGTGCGTGGGAAAGTATTCTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTACAGTGGCATGATCTCGGCTCACTGCGACTTCCACCTCCCAGG
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Task1_train_16235
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This alteration occurs within gene DHCR7 (7-dehydrocholesterol reductase) located on Chromosome 11. Is it associated with a disease or is it a benign variant?
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Pathogenic; Smith-Lemli-Opitz syndrome
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CTGCAGCCCAGCACAAAGCTGCTCAAACAGAAACCAAACCAAAAGCTAACCTCAGCCAATTCAGAGGCAGGTCCACATCTGAACCAAGAGCTCTCCCAGCAAATTGGCCTGGAAAGCCCTTCTCACATCAAGGCAGGAAGATAATAATGACCCTCATCTTTCAAAAGAGGAAGCTGAGACACTGAGAGGGTAGGTCCCCTGAAGGTCATACAGCTCTTAAATGCTGGGGCCAGGATTCCAACGCAGGCAGGGAGGCCCGGATCTGAGCTCACAGTGACCACACCCCAGCCTCTGTGAACTGAATTTACGCAATGTCTGGGAAGAAAAGGCAGGGTCCACTCCGCTCAGAGCCATGCAGGGCAGTGTGCTCCCGTCTCCCCGGCATTTGAATCACTCTTGTGGTGTGTGTCCAGCACAGATGCACGGGACCCCTCAGGCCCATATCCTCAAACAGGTAGTGGTGGGGCACCAGTGCACGAACACTAGGGCTCAGCAGTCAGCCTGGGCGGGTCACAGTTCCGATACCCTCCAGGCTGTCTGGGAGGCGGCCTGGCTGTGGGACCAGTTCTCATGTGAAGCAATGAAGCCACTCTGAGCTTGGCCCCCTGCCCTGGCATGGGCACTGGGCTGCCTGTGTGAAACTCTTGTTTCTCCAGGTGCAAGACAAACCTGGCACTCTTTCTGGCTTCTCCATTCACTTGCCGGGGGCAGGTGGCCAAGCCTGGTTTCATCTCCTTGGGGGGGAATGGAATACTCTCCACATTCAACCCAAAAACAGCCCCAGCAAAGGGCTGACATGGGAGGGAGAGGGGCAGGGTGGCGCCACGCACCCACGGGCACCCAATGCTTTGACGCCGAGACCCAAGCATCTCTCTCAGACATCCCTTCTCATACCAGAAACAGAGCCCACGTATACCAGTCAGACCTGCAGTCAGGCCCATTCACGAGTCAGGCCCATTCACCAGTCAGAAACCACACAGCCACTTATTTGAACAGGGGAAGTTTAATATAAAGATGAACTCTACTCGGAGCATAGAGTTTAAAAAGAGTTCTACACAACACCCTAGGGATGAGGAAGAATGCCTCAGGGAAGAAAGCACAGAAAAGGAGGTGCCCTCCCGAGGCTGGGACTGAGACCTCCTCGCTGGAGAAGGTGTGGGAGGCCCCTGAGGGTGAAGTTCCCCGGGTTGCTCGAGCCAGAGTCTGCACAGTCATAGGGCAAGCAGAAAATTCTTTCGAGAGGGTGGGCGCTCACAGGGAATCGGGAAGCAGAGCCCACCTGCCTACACCTGAAAGGCCACAGCCGGTGCTGGGACCTCTCTGAGGTCTGCAGACTCCAGGCAGAGCACTCCTGGCAGCTGTGCAGCAGGAGCAGGAAGGAAACGACATGAAAGCCCCTTTCTCCCCAGTGTCCCAGTTCAACACCGTGCACGCTACCAAGGAGAAACGGCGCACGGGCCCCACCCACGACTGCAGAGCAGGCAGGGGAGGGGGATCTAGAGCTGAAAGGCAATACATGGATAACGCGCACGCCCCACTCCCACTTTTATTTAGCAAGAGTAAATGCAGCCTAATGACAGGGCGTGGGAAGACCTCCTGCTCACCAGTGTGGGCAGAGTGTAGCGTGGCCTGGGCTCCTAATACAGGTAAATTGTCTCCAAAGGACTAGTAAAGGTGACTGGGTCATCCTCCTGCCCCAGGGACACTGATTAGAGAAAATCCGTCTGTGCTGGCAATACGGCAGTGCTGGACACTCGGAATTCCCTTGAAGGCAAAAGCAAGGAACAGAGCGTGATTAGGTACTGGACACCTGCCAAGTGCTGGGCTCTCTCCAGTTTACAGATGAGGAAACTGAGGCTCCTCGAGTTGGAGCTGGGATGCCAGCCCCCATGGACCTGGCAGAACACGCTCTTGACAGCCCCACAGGGCTTCTCCCTAGGGCGTGCCCTTAGAAGATTCCAGGCAGCAGGCGGTAAGGCACTGCGGCGGTGTAGCGCTCCCAGTCCCGGCCGTACTTGCTGGCGCAGCGGTGCTCGTCCCGGAGGCAGCGGTGGGTCAGCAGGATGGCCATGTAGATGATGTAGAAGTAGGGCAGCAGGTGGCCGCCGCCACAGGCCAGGCAGTAGGCCAGGCTGCCCATCAGGTCGCCGACGTAGTTGAAGTGGCGGGCCACGCCCCAGAAGCCCGACACCAGCAGCTTGCTGTGGTGCCTCTGCCCATCGGCGGATGTGTAGGAGCACTCGATGACCTTGGGCTTCCTGCCCCAGATGAGGCAGCGCCCATCCGTGCGGCGGAACAGGTCCTTCTGGTGGTTGGCCACCCGGAAGATGTAGTAGCCCACCAGGCCCAGCAGCAGGACGCCCACGGCGTGCGGGGTGGACAGCTGCACGGGGTGGTACACCAAGTACAGACCCTGGGGGGCGAGGGGGAAGGGGTCAAGCGGTGCTTTGCCCAGGGAGAGGACAGGAGTGTGGGCTCGGGGGCCCAGCGGCCTGGGGTCAAACCCCAGCTCTGCCTCTGACACACGCCTTGCCTCCGTGTTCTCTTCTGTGAATAAAAGCACCAACCTTGAGGGCTGTTGTGGTCATTAAATGAGTAACTCTACCTGCCTTCTACCTGTCTGTGTGTGTATGTGTGTGTGTATATATACCCCCTATATATATGACATATAGCATAAACATCAAATATGTAACAGTATTAAAAATATAATCTGAATTTAATATTGTGATGGTCAATTTAACGTGTCCACTTGGCCAGGCCATTGTTCCCAGATATTTGGTCAAACACTAGTTGTAAAGGCATTTTTCAGATGAGGTTCATATGTTAATCAGTCAACCAGGCAGAGTGGATGACCCTTCACAATGGGGGTGGGCCTCATCCAATCAGTTGACAGCTTTAAGAGACAGAAGACCCACCTTCCCCAAAGAAGAGGGAATCTGCTAAAAAGTGGCCTTCTGGCCATGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTTGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGGCGTGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCTAGCCTGTGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAGTGACCTTCTATTTAAGCACAGCATCAACTCTTCCCTGGGGCTCCAGGCTGCCCTGAAGATCTTGGACTTGTCACTCTTCAATCACATGAGTTGAAAAATACATCTCTTTCTTACACGTATACCCTCCACCCCTCTATTGATTCTGCTTCTTGGGAGAAACCTAATATATAGTATAAAAAATGTACATCTCGAGACACACACAGAGGCTAAAGCAAGTAAGAGCTATTATATAGTGGGACCTATTGCTACGTTTTCACATCCTTGGAAAATGGAGTTTATAAAACCAGGGAACCAGCAGACCTGCAGCCAGCCAGGTGGAGAAATGGGGCCGGGTGGGCCATGCGGGGGGCTCCAAGGACCTGGTGTGAGCATGGGGCCAGCTGGGGCTCTGCACCCTCCACCTGGTACTGGCCCCCTCTGCTGTGGGAATCCTGGTTTTCCAGGACACCCGCACCTCCATCCCACAGGACTGGCTGTCACAGGTGATGCCGGGCCTGTCACATCCTGAATAGGTGACAGCCTCTCCACGTTGGTTCTCTCCACTTGGGCACAGCCTCTTGGGGCAGGCCACCCCACCGTTCTGCTAAGCAAGTGCCCTGGGGTGAGTTATTTCTGTCCCCAGGGGGCTCGTTGCTCTTGAAATGGGCAGGTGGCATCTGGTCAAGCAGCCACCTTACCTGGGAGCCCAGCACTCTCCCCAAATCAGAGCAGGGCTGCTCTCGTTGAGCTGGGAGGGGAGTGGGGGGCTTGATGCCAATGACAAGGCCACTTGCTATCCCCTACTGTCCTGGAACTCCCAGGGCAGCCCTGCCCCAGTGCCCAGCACATCCTAGGAGGCAGGAAT
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CTGCAGCCCAGCACAAAGCTGCTCAAACAGAAACCAAACCAAAAGCTAACCTCAGCCAATTCAGAGGCAGGTCCACATCTGAACCAAGAGCTCTCCCAGCAAATTGGCCTGGAAAGCCCTTCTCACATCAAGGCAGGAAGATAATAATGACCCTCATCTTTCAAAAGAGGAAGCTGAGACACTGAGAGGGTAGGTCCCCTGAAGGTCATACAGCTCTTAAATGCTGGGGCCAGGATTCCAACGCAGGCAGGGAGGCCCGGATCTGAGCTCACAGTGACCACACCCCAGCCTCTGTGAACTGAATTTACGCAATGTCTGGGAAGAAAAGGCAGGGTCCACTCCGCTCAGAGCCATGCAGGGCAGTGTGCTCCCGTCTCCCCGGCATTTGAATCACTCTTGTGGTGTGTGTCCAGCACAGATGCACGGGACCCCTCAGGCCCATATCCTCAAACAGGTAGTGGTGGGGCACCAGTGCACGAACACTAGGGCTCAGCAGTCAGCCTGGGCGGGTCACAGTTCCGATACCCTCCAGGCTGTCTGGGAGGCGGCCTGGCTGTGGGACCAGTTCTCATGTGAAGCAATGAAGCCACTCTGAGCTTGGCCCCCTGCCCTGGCATGGGCACTGGGCTGCCTGTGTGAAACTCTTGTTTCTCCAGGTGCAAGACAAACCTGGCACTCTTTCTGGCTTCTCCATTCACTTGCCGGGGGCAGGTGGCCAAGCCTGGTTTCATCTCCTTGGGGGGGAATGGAATACTCTCCACATTCAACCCAAAAACAGCCCCAGCAAAGGGCTGACATGGGAGGGAGAGGGGCAGGGTGGCGCCACGCACCCACGGGCACCCAATGCTTTGACGCCGAGACCCAAGCATCTCTCTCAGACATCCCTTCTCATACCAGAAACAGAGCCCACGTATACCAGTCAGACCTGCAGTCAGGCCCATTCACGAGTCAGGCCCATTCACCAGTCAGAAACCACACAGCCACTTATTTGAACAGGGGAAGTTTAATATAAAGATGAACTCTACTCGGAGCATAGAGTTTAAAAAGAGTTCTACACAACACCCTAGGGATGAGGAAGAATGCCTCAGGGAAGAAAGCACAGAAAAGGAGGTGCCCTCCCGAGGCTGGGACTGAGACCTCCTCGCTGGAGAAGGTGTGGGAGGCCCCTGAGGGTGAAGTTCCCCGGGTTGCTCGAGCCAGAGTCTGCACAGTCATAGGGCAAGCAGAAAATTCTTTCGAGAGGGTGGGCGCTCACAGGGAATCGGGAAGCAGAGCCCACCTGCCTACACCTGAAAGGCCACAGCCGGTGCTGGGACCTCTCTGAGGTCTGCAGACTCCAGGCAGAGCACTCCTGGCAGCTGTGCAGCAGGAGCAGGAAGGAAACGACATGAAAGCCCCTTTCTCCCCAGTGTCCCAGTTCAACACCGTGCACGCTACCAAGGAGAAACGGCGCACGGGCCCCACCCACGACTGCAGAGCAGGCAGGGGAGGGGGATCTAGAGCTGAAAGGCAATACATGGATAACGCGCACGCCCCACTCCCACTTTTATTTAGCAAGAGTAAATGCAGCCTAATGACAGGGCGTGGGAAGACCTCCTGCTCACCAGTGTGGGCAGAGTGTAGCGTGGCCTGGGCTCCTAATACAGGTAAATTGTCTCCAAAGGACTAGTAAAGGTGACTGGGTCATCCTCCTGCCCCAGGGACACTGATTAGAGAAAATCCGTCTGTGCTGGCAATACGGCAGTGCTGGACACTCGGAATTCCCTTGAAGGCAAAAGCAAGGAACAGAGCGTGATTAGGTACTGGACACCTGCCAAGTGCTGGGCTCTCTCCAGTTTACAGATGAGGAAACTGAGGCTCCTCGAGTTGGAGCTGGGATGCCAGCCCCCATGGACCTGGCAGAACACGCTCTTGACAGCCCCACAGGGCTTCTCCCTAGGGCGTGCCCTTAGAAGATTCCAGGCAGCAGGCGGTAAGGCACTGCGGCGGTGTAGCGCTCCCAGTCCCGGCCGTACTTGCTGGCGCAGCGGTGCTCGTCCCGGAGGCAGGGGTGGGTCAGCAGGATGGCCATGTAGATGATGTAGAAGTAGGGCAGCAGGTGGCCGCCGCCACAGGCCAGGCAGTAGGCCAGGCTGCCCATCAGGTCGCCGACGTAGTTGAAGTGGCGGGCCACGCCCCAGAAGCCCGACACCAGCAGCTTGCTGTGGTGCCTCTGCCCATCGGCGGATGTGTAGGAGCACTCGATGACCTTGGGCTTCCTGCCCCAGATGAGGCAGCGCCCATCCGTGCGGCGGAACAGGTCCTTCTGGTGGTTGGCCACCCGGAAGATGTAGTAGCCCACCAGGCCCAGCAGCAGGACGCCCACGGCGTGCGGGGTGGACAGCTGCACGGGGTGGTACACCAAGTACAGACCCTGGGGGGCGAGGGGGAAGGGGTCAAGCGGTGCTTTGCCCAGGGAGAGGACAGGAGTGTGGGCTCGGGGGCCCAGCGGCCTGGGGTCAAACCCCAGCTCTGCCTCTGACACACGCCTTGCCTCCGTGTTCTCTTCTGTGAATAAAAGCACCAACCTTGAGGGCTGTTGTGGTCATTAAATGAGTAACTCTACCTGCCTTCTACCTGTCTGTGTGTGTATGTGTGTGTGTATATATACCCCCTATATATATGACATATAGCATAAACATCAAATATGTAACAGTATTAAAAATATAATCTGAATTTAATATTGTGATGGTCAATTTAACGTGTCCACTTGGCCAGGCCATTGTTCCCAGATATTTGGTCAAACACTAGTTGTAAAGGCATTTTTCAGATGAGGTTCATATGTTAATCAGTCAACCAGGCAGAGTGGATGACCCTTCACAATGGGGGTGGGCCTCATCCAATCAGTTGACAGCTTTAAGAGACAGAAGACCCACCTTCCCCAAAGAAGAGGGAATCTGCTAAAAAGTGGCCTTCTGGCCATGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTTGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGGCGTGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCTAGCCTGTGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAGTGACCTTCTATTTAAGCACAGCATCAACTCTTCCCTGGGGCTCCAGGCTGCCCTGAAGATCTTGGACTTGTCACTCTTCAATCACATGAGTTGAAAAATACATCTCTTTCTTACACGTATACCCTCCACCCCTCTATTGATTCTGCTTCTTGGGAGAAACCTAATATATAGTATAAAAAATGTACATCTCGAGACACACACAGAGGCTAAAGCAAGTAAGAGCTATTATATAGTGGGACCTATTGCTACGTTTTCACATCCTTGGAAAATGGAGTTTATAAAACCAGGGAACCAGCAGACCTGCAGCCAGCCAGGTGGAGAAATGGGGCCGGGTGGGCCATGCGGGGGGCTCCAAGGACCTGGTGTGAGCATGGGGCCAGCTGGGGCTCTGCACCCTCCACCTGGTACTGGCCCCCTCTGCTGTGGGAATCCTGGTTTTCCAGGACACCCGCACCTCCATCCCACAGGACTGGCTGTCACAGGTGATGCCGGGCCTGTCACATCCTGAATAGGTGACAGCCTCTCCACGTTGGTTCTCTCCACTTGGGCACAGCCTCTTGGGGCAGGCCACCCCACCGTTCTGCTAAGCAAGTGCCCTGGGGTGAGTTATTTCTGTCCCCAGGGGGCTCGTTGCTCTTGAAATGGGCAGGTGGCATCTGGTCAAGCAGCCACCTTACCTGGGAGCCCAGCACTCTCCCCAAATCAGAGCAGGGCTGCTCTCGTTGAGCTGGGAGGGGAGTGGGGGGCTTGATGCCAATGACAAGGCCACTTGCTATCCCCTACTGTCCTGGAACTCCCAGGGCAGCCCTGCCCCAGTGCCCAGCACATCCTAGGAGGCAGGAAT
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Task1_train_16236
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Here is a variant affecting DHCR7 (7-dehydrocholesterol reductase) on Chromosome 11. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Smith-Lemli-Opitz syndrome
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CAGCCCAGCACAAAGCTGCTCAAACAGAAACCAAACCAAAAGCTAACCTCAGCCAATTCAGAGGCAGGTCCACATCTGAACCAAGAGCTCTCCCAGCAAATTGGCCTGGAAAGCCCTTCTCACATCAAGGCAGGAAGATAATAATGACCCTCATCTTTCAAAAGAGGAAGCTGAGACACTGAGAGGGTAGGTCCCCTGAAGGTCATACAGCTCTTAAATGCTGGGGCCAGGATTCCAACGCAGGCAGGGAGGCCCGGATCTGAGCTCACAGTGACCACACCCCAGCCTCTGTGAACTGAATTTACGCAATGTCTGGGAAGAAAAGGCAGGGTCCACTCCGCTCAGAGCCATGCAGGGCAGTGTGCTCCCGTCTCCCCGGCATTTGAATCACTCTTGTGGTGTGTGTCCAGCACAGATGCACGGGACCCCTCAGGCCCATATCCTCAAACAGGTAGTGGTGGGGCACCAGTGCACGAACACTAGGGCTCAGCAGTCAGCCTGGGCGGGTCACAGTTCCGATACCCTCCAGGCTGTCTGGGAGGCGGCCTGGCTGTGGGACCAGTTCTCATGTGAAGCAATGAAGCCACTCTGAGCTTGGCCCCCTGCCCTGGCATGGGCACTGGGCTGCCTGTGTGAAACTCTTGTTTCTCCAGGTGCAAGACAAACCTGGCACTCTTTCTGGCTTCTCCATTCACTTGCCGGGGGCAGGTGGCCAAGCCTGGTTTCATCTCCTTGGGGGGGAATGGAATACTCTCCACATTCAACCCAAAAACAGCCCCAGCAAAGGGCTGACATGGGAGGGAGAGGGGCAGGGTGGCGCCACGCACCCACGGGCACCCAATGCTTTGACGCCGAGACCCAAGCATCTCTCTCAGACATCCCTTCTCATACCAGAAACAGAGCCCACGTATACCAGTCAGACCTGCAGTCAGGCCCATTCACGAGTCAGGCCCATTCACCAGTCAGAAACCACACAGCCACTTATTTGAACAGGGGAAGTTTAATATAAAGATGAACTCTACTCGGAGCATAGAGTTTAAAAAGAGTTCTACACAACACCCTAGGGATGAGGAAGAATGCCTCAGGGAAGAAAGCACAGAAAAGGAGGTGCCCTCCCGAGGCTGGGACTGAGACCTCCTCGCTGGAGAAGGTGTGGGAGGCCCCTGAGGGTGAAGTTCCCCGGGTTGCTCGAGCCAGAGTCTGCACAGTCATAGGGCAAGCAGAAAATTCTTTCGAGAGGGTGGGCGCTCACAGGGAATCGGGAAGCAGAGCCCACCTGCCTACACCTGAAAGGCCACAGCCGGTGCTGGGACCTCTCTGAGGTCTGCAGACTCCAGGCAGAGCACTCCTGGCAGCTGTGCAGCAGGAGCAGGAAGGAAACGACATGAAAGCCCCTTTCTCCCCAGTGTCCCAGTTCAACACCGTGCACGCTACCAAGGAGAAACGGCGCACGGGCCCCACCCACGACTGCAGAGCAGGCAGGGGAGGGGGATCTAGAGCTGAAAGGCAATACATGGATAACGCGCACGCCCCACTCCCACTTTTATTTAGCAAGAGTAAATGCAGCCTAATGACAGGGCGTGGGAAGACCTCCTGCTCACCAGTGTGGGCAGAGTGTAGCGTGGCCTGGGCTCCTAATACAGGTAAATTGTCTCCAAAGGACTAGTAAAGGTGACTGGGTCATCCTCCTGCCCCAGGGACACTGATTAGAGAAAATCCGTCTGTGCTGGCAATACGGCAGTGCTGGACACTCGGAATTCCCTTGAAGGCAAAAGCAAGGAACAGAGCGTGATTAGGTACTGGACACCTGCCAAGTGCTGGGCTCTCTCCAGTTTACAGATGAGGAAACTGAGGCTCCTCGAGTTGGAGCTGGGATGCCAGCCCCCATGGACCTGGCAGAACACGCTCTTGACAGCCCCACAGGGCTTCTCCCTAGGGCGTGCCCTTAGAAGATTCCAGGCAGCAGGCGGTAAGGCACTGCGGCGGTGTAGCGCTCCCAGTCCCGGCCGTACTTGCTGGCGCAGCGGTGCTCGTCCCGGAGGCAGCGGTGGGTCAGCAGGATGGCCATGTAGATGATGTAGAAGTAGGGCAGCAGGTGGCCGCCGCCACAGGCCAGGCAGTAGGCCAGGCTGCCCATCAGGTCGCCGACGTAGTTGAAGTGGCGGGCCACGCCCCAGAAGCCCGACACCAGCAGCTTGCTGTGGTGCCTCTGCCCATCGGCGGATGTGTAGGAGCACTCGATGACCTTGGGCTTCCTGCCCCAGATGAGGCAGCGCCCATCCGTGCGGCGGAACAGGTCCTTCTGGTGGTTGGCCACCCGGAAGATGTAGTAGCCCACCAGGCCCAGCAGCAGGACGCCCACGGCGTGCGGGGTGGACAGCTGCACGGGGTGGTACACCAAGTACAGACCCTGGGGGGCGAGGGGGAAGGGGTCAAGCGGTGCTTTGCCCAGGGAGAGGACAGGAGTGTGGGCTCGGGGGCCCAGCGGCCTGGGGTCAAACCCCAGCTCTGCCTCTGACACACGCCTTGCCTCCGTGTTCTCTTCTGTGAATAAAAGCACCAACCTTGAGGGCTGTTGTGGTCATTAAATGAGTAACTCTACCTGCCTTCTACCTGTCTGTGTGTGTATGTGTGTGTGTATATATACCCCCTATATATATGACATATAGCATAAACATCAAATATGTAACAGTATTAAAAATATAATCTGAATTTAATATTGTGATGGTCAATTTAACGTGTCCACTTGGCCAGGCCATTGTTCCCAGATATTTGGTCAAACACTAGTTGTAAAGGCATTTTTCAGATGAGGTTCATATGTTAATCAGTCAACCAGGCAGAGTGGATGACCCTTCACAATGGGGGTGGGCCTCATCCAATCAGTTGACAGCTTTAAGAGACAGAAGACCCACCTTCCCCAAAGAAGAGGGAATCTGCTAAAAAGTGGCCTTCTGGCCATGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTTGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGGCGTGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCTAGCCTGTGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAGTGACCTTCTATTTAAGCACAGCATCAACTCTTCCCTGGGGCTCCAGGCTGCCCTGAAGATCTTGGACTTGTCACTCTTCAATCACATGAGTTGAAAAATACATCTCTTTCTTACACGTATACCCTCCACCCCTCTATTGATTCTGCTTCTTGGGAGAAACCTAATATATAGTATAAAAAATGTACATCTCGAGACACACACAGAGGCTAAAGCAAGTAAGAGCTATTATATAGTGGGACCTATTGCTACGTTTTCACATCCTTGGAAAATGGAGTTTATAAAACCAGGGAACCAGCAGACCTGCAGCCAGCCAGGTGGAGAAATGGGGCCGGGTGGGCCATGCGGGGGGCTCCAAGGACCTGGTGTGAGCATGGGGCCAGCTGGGGCTCTGCACCCTCCACCTGGTACTGGCCCCCTCTGCTGTGGGAATCCTGGTTTTCCAGGACACCCGCACCTCCATCCCACAGGACTGGCTGTCACAGGTGATGCCGGGCCTGTCACATCCTGAATAGGTGACAGCCTCTCCACGTTGGTTCTCTCCACTTGGGCACAGCCTCTTGGGGCAGGCCACCCCACCGTTCTGCTAAGCAAGTGCCCTGGGGTGAGTTATTTCTGTCCCCAGGGGGCTCGTTGCTCTTGAAATGGGCAGGTGGCATCTGGTCAAGCAGCCACCTTACCTGGGAGCCCAGCACTCTCCCCAAATCAGAGCAGGGCTGCTCTCGTTGAGCTGGGAGGGGAGTGGGGGGCTTGATGCCAATGACAAGGCCACTTGCTATCCCCTACTGTCCTGGAACTCCCAGGGCAGCCCTGCCCCAGTGCCCAGCACATCCTAGGAGGCAGGAATGAA
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CAGCCCAGCACAAAGCTGCTCAAACAGAAACCAAACCAAAAGCTAACCTCAGCCAATTCAGAGGCAGGTCCACATCTGAACCAAGAGCTCTCCCAGCAAATTGGCCTGGAAAGCCCTTCTCACATCAAGGCAGGAAGATAATAATGACCCTCATCTTTCAAAAGAGGAAGCTGAGACACTGAGAGGGTAGGTCCCCTGAAGGTCATACAGCTCTTAAATGCTGGGGCCAGGATTCCAACGCAGGCAGGGAGGCCCGGATCTGAGCTCACAGTGACCACACCCCAGCCTCTGTGAACTGAATTTACGCAATGTCTGGGAAGAAAAGGCAGGGTCCACTCCGCTCAGAGCCATGCAGGGCAGTGTGCTCCCGTCTCCCCGGCATTTGAATCACTCTTGTGGTGTGTGTCCAGCACAGATGCACGGGACCCCTCAGGCCCATATCCTCAAACAGGTAGTGGTGGGGCACCAGTGCACGAACACTAGGGCTCAGCAGTCAGCCTGGGCGGGTCACAGTTCCGATACCCTCCAGGCTGTCTGGGAGGCGGCCTGGCTGTGGGACCAGTTCTCATGTGAAGCAATGAAGCCACTCTGAGCTTGGCCCCCTGCCCTGGCATGGGCACTGGGCTGCCTGTGTGAAACTCTTGTTTCTCCAGGTGCAAGACAAACCTGGCACTCTTTCTGGCTTCTCCATTCACTTGCCGGGGGCAGGTGGCCAAGCCTGGTTTCATCTCCTTGGGGGGGAATGGAATACTCTCCACATTCAACCCAAAAACAGCCCCAGCAAAGGGCTGACATGGGAGGGAGAGGGGCAGGGTGGCGCCACGCACCCACGGGCACCCAATGCTTTGACGCCGAGACCCAAGCATCTCTCTCAGACATCCCTTCTCATACCAGAAACAGAGCCCACGTATACCAGTCAGACCTGCAGTCAGGCCCATTCACGAGTCAGGCCCATTCACCAGTCAGAAACCACACAGCCACTTATTTGAACAGGGGAAGTTTAATATAAAGATGAACTCTACTCGGAGCATAGAGTTTAAAAAGAGTTCTACACAACACCCTAGGGATGAGGAAGAATGCCTCAGGGAAGAAAGCACAGAAAAGGAGGTGCCCTCCCGAGGCTGGGACTGAGACCTCCTCGCTGGAGAAGGTGTGGGAGGCCCCTGAGGGTGAAGTTCCCCGGGTTGCTCGAGCCAGAGTCTGCACAGTCATAGGGCAAGCAGAAAATTCTTTCGAGAGGGTGGGCGCTCACAGGGAATCGGGAAGCAGAGCCCACCTGCCTACACCTGAAAGGCCACAGCCGGTGCTGGGACCTCTCTGAGGTCTGCAGACTCCAGGCAGAGCACTCCTGGCAGCTGTGCAGCAGGAGCAGGAAGGAAACGACATGAAAGCCCCTTTCTCCCCAGTGTCCCAGTTCAACACCGTGCACGCTACCAAGGAGAAACGGCGCACGGGCCCCACCCACGACTGCAGAGCAGGCAGGGGAGGGGGATCTAGAGCTGAAAGGCAATACATGGATAACGCGCACGCCCCACTCCCACTTTTATTTAGCAAGAGTAAATGCAGCCTAATGACAGGGCGTGGGAAGACCTCCTGCTCACCAGTGTGGGCAGAGTGTAGCGTGGCCTGGGCTCCTAATACAGGTAAATTGTCTCCAAAGGACTAGTAAAGGTGACTGGGTCATCCTCCTGCCCCAGGGACACTGATTAGAGAAAATCCGTCTGTGCTGGCAATACGGCAGTGCTGGACACTCGGAATTCCCTTGAAGGCAAAAGCAAGGAACAGAGCGTGATTAGGTACTGGACACCTGCCAAGTGCTGGGCTCTCTCCAGTTTACAGATGAGGAAACTGAGGCTCCTCGAGTTGGAGCTGGGATGCCAGCCCCCATGGACCTGGCAGAACACGCTCTTGACAGCCCCACAGGGCTTCTCCCTAGGGCGTGCCCTTAGAAGATTCCAGGCAGCAGGCGGTAAGGCACTGCGGCGGTGTAGCGCTCCCAGTCCCGGCCGTACTTGCTGGCGCAGCGGTGCTCGTCCCGGAGGCAGCGGCGGGTCAGCAGGATGGCCATGTAGATGATGTAGAAGTAGGGCAGCAGGTGGCCGCCGCCACAGGCCAGGCAGTAGGCCAGGCTGCCCATCAGGTCGCCGACGTAGTTGAAGTGGCGGGCCACGCCCCAGAAGCCCGACACCAGCAGCTTGCTGTGGTGCCTCTGCCCATCGGCGGATGTGTAGGAGCACTCGATGACCTTGGGCTTCCTGCCCCAGATGAGGCAGCGCCCATCCGTGCGGCGGAACAGGTCCTTCTGGTGGTTGGCCACCCGGAAGATGTAGTAGCCCACCAGGCCCAGCAGCAGGACGCCCACGGCGTGCGGGGTGGACAGCTGCACGGGGTGGTACACCAAGTACAGACCCTGGGGGGCGAGGGGGAAGGGGTCAAGCGGTGCTTTGCCCAGGGAGAGGACAGGAGTGTGGGCTCGGGGGCCCAGCGGCCTGGGGTCAAACCCCAGCTCTGCCTCTGACACACGCCTTGCCTCCGTGTTCTCTTCTGTGAATAAAAGCACCAACCTTGAGGGCTGTTGTGGTCATTAAATGAGTAACTCTACCTGCCTTCTACCTGTCTGTGTGTGTATGTGTGTGTGTATATATACCCCCTATATATATGACATATAGCATAAACATCAAATATGTAACAGTATTAAAAATATAATCTGAATTTAATATTGTGATGGTCAATTTAACGTGTCCACTTGGCCAGGCCATTGTTCCCAGATATTTGGTCAAACACTAGTTGTAAAGGCATTTTTCAGATGAGGTTCATATGTTAATCAGTCAACCAGGCAGAGTGGATGACCCTTCACAATGGGGGTGGGCCTCATCCAATCAGTTGACAGCTTTAAGAGACAGAAGACCCACCTTCCCCAAAGAAGAGGGAATCTGCTAAAAAGTGGCCTTCTGGCCATGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTTGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGGCGTGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCTAGCCTGTGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAGTGACCTTCTATTTAAGCACAGCATCAACTCTTCCCTGGGGCTCCAGGCTGCCCTGAAGATCTTGGACTTGTCACTCTTCAATCACATGAGTTGAAAAATACATCTCTTTCTTACACGTATACCCTCCACCCCTCTATTGATTCTGCTTCTTGGGAGAAACCTAATATATAGTATAAAAAATGTACATCTCGAGACACACACAGAGGCTAAAGCAAGTAAGAGCTATTATATAGTGGGACCTATTGCTACGTTTTCACATCCTTGGAAAATGGAGTTTATAAAACCAGGGAACCAGCAGACCTGCAGCCAGCCAGGTGGAGAAATGGGGCCGGGTGGGCCATGCGGGGGGCTCCAAGGACCTGGTGTGAGCATGGGGCCAGCTGGGGCTCTGCACCCTCCACCTGGTACTGGCCCCCTCTGCTGTGGGAATCCTGGTTTTCCAGGACACCCGCACCTCCATCCCACAGGACTGGCTGTCACAGGTGATGCCGGGCCTGTCACATCCTGAATAGGTGACAGCCTCTCCACGTTGGTTCTCTCCACTTGGGCACAGCCTCTTGGGGCAGGCCACCCCACCGTTCTGCTAAGCAAGTGCCCTGGGGTGAGTTATTTCTGTCCCCAGGGGGCTCGTTGCTCTTGAAATGGGCAGGTGGCATCTGGTCAAGCAGCCACCTTACCTGGGAGCCCAGCACTCTCCCCAAATCAGAGCAGGGCTGCTCTCGTTGAGCTGGGAGGGGAGTGGGGGGCTTGATGCCAATGACAAGGCCACTTGCTATCCCCTACTGTCCTGGAACTCCCAGGGCAGCCCTGCCCCAGTGCCCAGCACATCCTAGGAGGCAGGAATGAA
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Task1_train_16237
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Consider this mutation in DHCR7 (7-dehydrocholesterol reductase) on Chromosome 11. Is this a benign change or a disease-causing variant?
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Pathogenic; Smith-Lemli-Opitz syndrome
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CCAAACCAAAAGCTAACCTCAGCCAATTCAGAGGCAGGTCCACATCTGAACCAAGAGCTCTCCCAGCAAATTGGCCTGGAAAGCCCTTCTCACATCAAGGCAGGAAGATAATAATGACCCTCATCTTTCAAAAGAGGAAGCTGAGACACTGAGAGGGTAGGTCCCCTGAAGGTCATACAGCTCTTAAATGCTGGGGCCAGGATTCCAACGCAGGCAGGGAGGCCCGGATCTGAGCTCACAGTGACCACACCCCAGCCTCTGTGAACTGAATTTACGCAATGTCTGGGAAGAAAAGGCAGGGTCCACTCCGCTCAGAGCCATGCAGGGCAGTGTGCTCCCGTCTCCCCGGCATTTGAATCACTCTTGTGGTGTGTGTCCAGCACAGATGCACGGGACCCCTCAGGCCCATATCCTCAAACAGGTAGTGGTGGGGCACCAGTGCACGAACACTAGGGCTCAGCAGTCAGCCTGGGCGGGTCACAGTTCCGATACCCTCCAGGCTGTCTGGGAGGCGGCCTGGCTGTGGGACCAGTTCTCATGTGAAGCAATGAAGCCACTCTGAGCTTGGCCCCCTGCCCTGGCATGGGCACTGGGCTGCCTGTGTGAAACTCTTGTTTCTCCAGGTGCAAGACAAACCTGGCACTCTTTCTGGCTTCTCCATTCACTTGCCGGGGGCAGGTGGCCAAGCCTGGTTTCATCTCCTTGGGGGGGAATGGAATACTCTCCACATTCAACCCAAAAACAGCCCCAGCAAAGGGCTGACATGGGAGGGAGAGGGGCAGGGTGGCGCCACGCACCCACGGGCACCCAATGCTTTGACGCCGAGACCCAAGCATCTCTCTCAGACATCCCTTCTCATACCAGAAACAGAGCCCACGTATACCAGTCAGACCTGCAGTCAGGCCCATTCACGAGTCAGGCCCATTCACCAGTCAGAAACCACACAGCCACTTATTTGAACAGGGGAAGTTTAATATAAAGATGAACTCTACTCGGAGCATAGAGTTTAAAAAGAGTTCTACACAACACCCTAGGGATGAGGAAGAATGCCTCAGGGAAGAAAGCACAGAAAAGGAGGTGCCCTCCCGAGGCTGGGACTGAGACCTCCTCGCTGGAGAAGGTGTGGGAGGCCCCTGAGGGTGAAGTTCCCCGGGTTGCTCGAGCCAGAGTCTGCACAGTCATAGGGCAAGCAGAAAATTCTTTCGAGAGGGTGGGCGCTCACAGGGAATCGGGAAGCAGAGCCCACCTGCCTACACCTGAAAGGCCACAGCCGGTGCTGGGACCTCTCTGAGGTCTGCAGACTCCAGGCAGAGCACTCCTGGCAGCTGTGCAGCAGGAGCAGGAAGGAAACGACATGAAAGCCCCTTTCTCCCCAGTGTCCCAGTTCAACACCGTGCACGCTACCAAGGAGAAACGGCGCACGGGCCCCACCCACGACTGCAGAGCAGGCAGGGGAGGGGGATCTAGAGCTGAAAGGCAATACATGGATAACGCGCACGCCCCACTCCCACTTTTATTTAGCAAGAGTAAATGCAGCCTAATGACAGGGCGTGGGAAGACCTCCTGCTCACCAGTGTGGGCAGAGTGTAGCGTGGCCTGGGCTCCTAATACAGGTAAATTGTCTCCAAAGGACTAGTAAAGGTGACTGGGTCATCCTCCTGCCCCAGGGACACTGATTAGAGAAAATCCGTCTGTGCTGGCAATACGGCAGTGCTGGACACTCGGAATTCCCTTGAAGGCAAAAGCAAGGAACAGAGCGTGATTAGGTACTGGACACCTGCCAAGTGCTGGGCTCTCTCCAGTTTACAGATGAGGAAACTGAGGCTCCTCGAGTTGGAGCTGGGATGCCAGCCCCCATGGACCTGGCAGAACACGCTCTTGACAGCCCCACAGGGCTTCTCCCTAGGGCGTGCCCTTAGAAGATTCCAGGCAGCAGGCGGTAAGGCACTGCGGCGGTGTAGCGCTCCCAGTCCCGGCCGTACTTGCTGGCGCAGCGGTGCTCGTCCCGGAGGCAGCGGTGGGTCAGCAGGATGGCCATGTAGATGATGTAGAAGTAGGGCAGCAGGTGGCCGCCGCCACAGGCCAGGCAGTAGGCCAGGCTGCCCATCAGGTCGCCGACGTAGTTGAAGTGGCGGGCCACGCCCCAGAAGCCCGACACCAGCAGCTTGCTGTGGTGCCTCTGCCCATCGGCGGATGTGTAGGAGCACTCGATGACCTTGGGCTTCCTGCCCCAGATGAGGCAGCGCCCATCCGTGCGGCGGAACAGGTCCTTCTGGTGGTTGGCCACCCGGAAGATGTAGTAGCCCACCAGGCCCAGCAGCAGGACGCCCACGGCGTGCGGGGTGGACAGCTGCACGGGGTGGTACACCAAGTACAGACCCTGGGGGGCGAGGGGGAAGGGGTCAAGCGGTGCTTTGCCCAGGGAGAGGACAGGAGTGTGGGCTCGGGGGCCCAGCGGCCTGGGGTCAAACCCCAGCTCTGCCTCTGACACACGCCTTGCCTCCGTGTTCTCTTCTGTGAATAAAAGCACCAACCTTGAGGGCTGTTGTGGTCATTAAATGAGTAACTCTACCTGCCTTCTACCTGTCTGTGTGTGTATGTGTGTGTGTATATATACCCCCTATATATATGACATATAGCATAAACATCAAATATGTAACAGTATTAAAAATATAATCTGAATTTAATATTGTGATGGTCAATTTAACGTGTCCACTTGGCCAGGCCATTGTTCCCAGATATTTGGTCAAACACTAGTTGTAAAGGCATTTTTCAGATGAGGTTCATATGTTAATCAGTCAACCAGGCAGAGTGGATGACCCTTCACAATGGGGGTGGGCCTCATCCAATCAGTTGACAGCTTTAAGAGACAGAAGACCCACCTTCCCCAAAGAAGAGGGAATCTGCTAAAAAGTGGCCTTCTGGCCATGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTTGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGGCGTGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCTAGCCTGTGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAGTGACCTTCTATTTAAGCACAGCATCAACTCTTCCCTGGGGCTCCAGGCTGCCCTGAAGATCTTGGACTTGTCACTCTTCAATCACATGAGTTGAAAAATACATCTCTTTCTTACACGTATACCCTCCACCCCTCTATTGATTCTGCTTCTTGGGAGAAACCTAATATATAGTATAAAAAATGTACATCTCGAGACACACACAGAGGCTAAAGCAAGTAAGAGCTATTATATAGTGGGACCTATTGCTACGTTTTCACATCCTTGGAAAATGGAGTTTATAAAACCAGGGAACCAGCAGACCTGCAGCCAGCCAGGTGGAGAAATGGGGCCGGGTGGGCCATGCGGGGGGCTCCAAGGACCTGGTGTGAGCATGGGGCCAGCTGGGGCTCTGCACCCTCCACCTGGTACTGGCCCCCTCTGCTGTGGGAATCCTGGTTTTCCAGGACACCCGCACCTCCATCCCACAGGACTGGCTGTCACAGGTGATGCCGGGCCTGTCACATCCTGAATAGGTGACAGCCTCTCCACGTTGGTTCTCTCCACTTGGGCACAGCCTCTTGGGGCAGGCCACCCCACCGTTCTGCTAAGCAAGTGCCCTGGGGTGAGTTATTTCTGTCCCCAGGGGGCTCGTTGCTCTTGAAATGGGCAGGTGGCATCTGGTCAAGCAGCCACCTTACCTGGGAGCCCAGCACTCTCCCCAAATCAGAGCAGGGCTGCTCTCGTTGAGCTGGGAGGGGAGTGGGGGGCTTGATGCCAATGACAAGGCCACTTGCTATCCCCTACTGTCCTGGAACTCCCAGGGCAGCCCTGCCCCAGTGCCCAGCACATCCTAGGAGGCAGGAATGAAGAGGACCCCTCCTGCCAGTGCCCGCACTGA
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CCAAACCAAAAGCTAACCTCAGCCAATTCAGAGGCAGGTCCACATCTGAACCAAGAGCTCTCCCAGCAAATTGGCCTGGAAAGCCCTTCTCACATCAAGGCAGGAAGATAATAATGACCCTCATCTTTCAAAAGAGGAAGCTGAGACACTGAGAGGGTAGGTCCCCTGAAGGTCATACAGCTCTTAAATGCTGGGGCCAGGATTCCAACGCAGGCAGGGAGGCCCGGATCTGAGCTCACAGTGACCACACCCCAGCCTCTGTGAACTGAATTTACGCAATGTCTGGGAAGAAAAGGCAGGGTCCACTCCGCTCAGAGCCATGCAGGGCAGTGTGCTCCCGTCTCCCCGGCATTTGAATCACTCTTGTGGTGTGTGTCCAGCACAGATGCACGGGACCCCTCAGGCCCATATCCTCAAACAGGTAGTGGTGGGGCACCAGTGCACGAACACTAGGGCTCAGCAGTCAGCCTGGGCGGGTCACAGTTCCGATACCCTCCAGGCTGTCTGGGAGGCGGCCTGGCTGTGGGACCAGTTCTCATGTGAAGCAATGAAGCCACTCTGAGCTTGGCCCCCTGCCCTGGCATGGGCACTGGGCTGCCTGTGTGAAACTCTTGTTTCTCCAGGTGCAAGACAAACCTGGCACTCTTTCTGGCTTCTCCATTCACTTGCCGGGGGCAGGTGGCCAAGCCTGGTTTCATCTCCTTGGGGGGGAATGGAATACTCTCCACATTCAACCCAAAAACAGCCCCAGCAAAGGGCTGACATGGGAGGGAGAGGGGCAGGGTGGCGCCACGCACCCACGGGCACCCAATGCTTTGACGCCGAGACCCAAGCATCTCTCTCAGACATCCCTTCTCATACCAGAAACAGAGCCCACGTATACCAGTCAGACCTGCAGTCAGGCCCATTCACGAGTCAGGCCCATTCACCAGTCAGAAACCACACAGCCACTTATTTGAACAGGGGAAGTTTAATATAAAGATGAACTCTACTCGGAGCATAGAGTTTAAAAAGAGTTCTACACAACACCCTAGGGATGAGGAAGAATGCCTCAGGGAAGAAAGCACAGAAAAGGAGGTGCCCTCCCGAGGCTGGGACTGAGACCTCCTCGCTGGAGAAGGTGTGGGAGGCCCCTGAGGGTGAAGTTCCCCGGGTTGCTCGAGCCAGAGTCTGCACAGTCATAGGGCAAGCAGAAAATTCTTTCGAGAGGGTGGGCGCTCACAGGGAATCGGGAAGCAGAGCCCACCTGCCTACACCTGAAAGGCCACAGCCGGTGCTGGGACCTCTCTGAGGTCTGCAGACTCCAGGCAGAGCACTCCTGGCAGCTGTGCAGCAGGAGCAGGAAGGAAACGACATGAAAGCCCCTTTCTCCCCAGTGTCCCAGTTCAACACCGTGCACGCTACCAAGGAGAAACGGCGCACGGGCCCCACCCACGACTGCAGAGCAGGCAGGGGAGGGGGATCTAGAGCTGAAAGGCAATACATGGATAACGCGCACGCCCCACTCCCACTTTTATTTAGCAAGAGTAAATGCAGCCTAATGACAGGGCGTGGGAAGACCTCCTGCTCACCAGTGTGGGCAGAGTGTAGCGTGGCCTGGGCTCCTAATACAGGTAAATTGTCTCCAAAGGACTAGTAAAGGTGACTGGGTCATCCTCCTGCCCCAGGGACACTGATTAGAGAAAATCCGTCTGTGCTGGCAATACGGCAGTGCTGGACACTCGGAATTCCCTTGAAGGCAAAAGCAAGGAACAGAGCGTGATTAGGTACTGGACACCTGCCAAGTGCTGGGCTCTCTCCAGTTTACAGATGAGGAAACTGAGGCTCCTCGAGTTGGAGCTGGGATGCCAGCCCCCATGGACCTGGCAGAACACGCTCTTGACAGCCCCACAGGGCTTCTCCCTAGGGCGTGCCCTTAGAAGATTCCAGGCAGCAGGCGGTAAGGCACTGCGGCGGTGTAGCGCTCCCAGTCCCGGCCGTACTTGCTGGCGCAGCGGTGCTCGTCCCGGAGGCAGCGGTGGGTCAGCAGGATGGCCATGTAGATGATGCAGAAGTAGGGCAGCAGGTGGCCGCCGCCACAGGCCAGGCAGTAGGCCAGGCTGCCCATCAGGTCGCCGACGTAGTTGAAGTGGCGGGCCACGCCCCAGAAGCCCGACACCAGCAGCTTGCTGTGGTGCCTCTGCCCATCGGCGGATGTGTAGGAGCACTCGATGACCTTGGGCTTCCTGCCCCAGATGAGGCAGCGCCCATCCGTGCGGCGGAACAGGTCCTTCTGGTGGTTGGCCACCCGGAAGATGTAGTAGCCCACCAGGCCCAGCAGCAGGACGCCCACGGCGTGCGGGGTGGACAGCTGCACGGGGTGGTACACCAAGTACAGACCCTGGGGGGCGAGGGGGAAGGGGTCAAGCGGTGCTTTGCCCAGGGAGAGGACAGGAGTGTGGGCTCGGGGGCCCAGCGGCCTGGGGTCAAACCCCAGCTCTGCCTCTGACACACGCCTTGCCTCCGTGTTCTCTTCTGTGAATAAAAGCACCAACCTTGAGGGCTGTTGTGGTCATTAAATGAGTAACTCTACCTGCCTTCTACCTGTCTGTGTGTGTATGTGTGTGTGTATATATACCCCCTATATATATGACATATAGCATAAACATCAAATATGTAACAGTATTAAAAATATAATCTGAATTTAATATTGTGATGGTCAATTTAACGTGTCCACTTGGCCAGGCCATTGTTCCCAGATATTTGGTCAAACACTAGTTGTAAAGGCATTTTTCAGATGAGGTTCATATGTTAATCAGTCAACCAGGCAGAGTGGATGACCCTTCACAATGGGGGTGGGCCTCATCCAATCAGTTGACAGCTTTAAGAGACAGAAGACCCACCTTCCCCAAAGAAGAGGGAATCTGCTAAAAAGTGGCCTTCTGGCCATGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTTGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGGCGTGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCTAGCCTGTGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAGTGACCTTCTATTTAAGCACAGCATCAACTCTTCCCTGGGGCTCCAGGCTGCCCTGAAGATCTTGGACTTGTCACTCTTCAATCACATGAGTTGAAAAATACATCTCTTTCTTACACGTATACCCTCCACCCCTCTATTGATTCTGCTTCTTGGGAGAAACCTAATATATAGTATAAAAAATGTACATCTCGAGACACACACAGAGGCTAAAGCAAGTAAGAGCTATTATATAGTGGGACCTATTGCTACGTTTTCACATCCTTGGAAAATGGAGTTTATAAAACCAGGGAACCAGCAGACCTGCAGCCAGCCAGGTGGAGAAATGGGGCCGGGTGGGCCATGCGGGGGGCTCCAAGGACCTGGTGTGAGCATGGGGCCAGCTGGGGCTCTGCACCCTCCACCTGGTACTGGCCCCCTCTGCTGTGGGAATCCTGGTTTTCCAGGACACCCGCACCTCCATCCCACAGGACTGGCTGTCACAGGTGATGCCGGGCCTGTCACATCCTGAATAGGTGACAGCCTCTCCACGTTGGTTCTCTCCACTTGGGCACAGCCTCTTGGGGCAGGCCACCCCACCGTTCTGCTAAGCAAGTGCCCTGGGGTGAGTTATTTCTGTCCCCAGGGGGCTCGTTGCTCTTGAAATGGGCAGGTGGCATCTGGTCAAGCAGCCACCTTACCTGGGAGCCCAGCACTCTCCCCAAATCAGAGCAGGGCTGCTCTCGTTGAGCTGGGAGGGGAGTGGGGGGCTTGATGCCAATGACAAGGCCACTTGCTATCCCCTACTGTCCTGGAACTCCCAGGGCAGCCCTGCCCCAGTGCCCAGCACATCCTAGGAGGCAGGAATGAAGAGGACCCCTCCTGCCAGTGCCCGCACTGA
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Task1_train_16238
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A mutation found in DHCR7 (7-dehydrocholesterol reductase) 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; Inborn genetic diseases
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AAATTGGCCTGGAAAGCCCTTCTCACATCAAGGCAGGAAGATAATAATGACCCTCATCTTTCAAAAGAGGAAGCTGAGACACTGAGAGGGTAGGTCCCCTGAAGGTCATACAGCTCTTAAATGCTGGGGCCAGGATTCCAACGCAGGCAGGGAGGCCCGGATCTGAGCTCACAGTGACCACACCCCAGCCTCTGTGAACTGAATTTACGCAATGTCTGGGAAGAAAAGGCAGGGTCCACTCCGCTCAGAGCCATGCAGGGCAGTGTGCTCCCGTCTCCCCGGCATTTGAATCACTCTTGTGGTGTGTGTCCAGCACAGATGCACGGGACCCCTCAGGCCCATATCCTCAAACAGGTAGTGGTGGGGCACCAGTGCACGAACACTAGGGCTCAGCAGTCAGCCTGGGCGGGTCACAGTTCCGATACCCTCCAGGCTGTCTGGGAGGCGGCCTGGCTGTGGGACCAGTTCTCATGTGAAGCAATGAAGCCACTCTGAGCTTGGCCCCCTGCCCTGGCATGGGCACTGGGCTGCCTGTGTGAAACTCTTGTTTCTCCAGGTGCAAGACAAACCTGGCACTCTTTCTGGCTTCTCCATTCACTTGCCGGGGGCAGGTGGCCAAGCCTGGTTTCATCTCCTTGGGGGGGAATGGAATACTCTCCACATTCAACCCAAAAACAGCCCCAGCAAAGGGCTGACATGGGAGGGAGAGGGGCAGGGTGGCGCCACGCACCCACGGGCACCCAATGCTTTGACGCCGAGACCCAAGCATCTCTCTCAGACATCCCTTCTCATACCAGAAACAGAGCCCACGTATACCAGTCAGACCTGCAGTCAGGCCCATTCACGAGTCAGGCCCATTCACCAGTCAGAAACCACACAGCCACTTATTTGAACAGGGGAAGTTTAATATAAAGATGAACTCTACTCGGAGCATAGAGTTTAAAAAGAGTTCTACACAACACCCTAGGGATGAGGAAGAATGCCTCAGGGAAGAAAGCACAGAAAAGGAGGTGCCCTCCCGAGGCTGGGACTGAGACCTCCTCGCTGGAGAAGGTGTGGGAGGCCCCTGAGGGTGAAGTTCCCCGGGTTGCTCGAGCCAGAGTCTGCACAGTCATAGGGCAAGCAGAAAATTCTTTCGAGAGGGTGGGCGCTCACAGGGAATCGGGAAGCAGAGCCCACCTGCCTACACCTGAAAGGCCACAGCCGGTGCTGGGACCTCTCTGAGGTCTGCAGACTCCAGGCAGAGCACTCCTGGCAGCTGTGCAGCAGGAGCAGGAAGGAAACGACATGAAAGCCCCTTTCTCCCCAGTGTCCCAGTTCAACACCGTGCACGCTACCAAGGAGAAACGGCGCACGGGCCCCACCCACGACTGCAGAGCAGGCAGGGGAGGGGGATCTAGAGCTGAAAGGCAATACATGGATAACGCGCACGCCCCACTCCCACTTTTATTTAGCAAGAGTAAATGCAGCCTAATGACAGGGCGTGGGAAGACCTCCTGCTCACCAGTGTGGGCAGAGTGTAGCGTGGCCTGGGCTCCTAATACAGGTAAATTGTCTCCAAAGGACTAGTAAAGGTGACTGGGTCATCCTCCTGCCCCAGGGACACTGATTAGAGAAAATCCGTCTGTGCTGGCAATACGGCAGTGCTGGACACTCGGAATTCCCTTGAAGGCAAAAGCAAGGAACAGAGCGTGATTAGGTACTGGACACCTGCCAAGTGCTGGGCTCTCTCCAGTTTACAGATGAGGAAACTGAGGCTCCTCGAGTTGGAGCTGGGATGCCAGCCCCCATGGACCTGGCAGAACACGCTCTTGACAGCCCCACAGGGCTTCTCCCTAGGGCGTGCCCTTAGAAGATTCCAGGCAGCAGGCGGTAAGGCACTGCGGCGGTGTAGCGCTCCCAGTCCCGGCCGTACTTGCTGGCGCAGCGGTGCTCGTCCCGGAGGCAGCGGTGGGTCAGCAGGATGGCCATGTAGATGATGTAGAAGTAGGGCAGCAGGTGGCCGCCGCCACAGGCCAGGCAGTAGGCCAGGCTGCCCATCAGGTCGCCGACGTAGTTGAAGTGGCGGGCCACGCCCCAGAAGCCCGACACCAGCAGCTTGCTGTGGTGCCTCTGCCCATCGGCGGATGTGTAGGAGCACTCGATGACCTTGGGCTTCCTGCCCCAGATGAGGCAGCGCCCATCCGTGCGGCGGAACAGGTCCTTCTGGTGGTTGGCCACCCGGAAGATGTAGTAGCCCACCAGGCCCAGCAGCAGGACGCCCACGGCGTGCGGGGTGGACAGCTGCACGGGGTGGTACACCAAGTACAGACCCTGGGGGGCGAGGGGGAAGGGGTCAAGCGGTGCTTTGCCCAGGGAGAGGACAGGAGTGTGGGCTCGGGGGCCCAGCGGCCTGGGGTCAAACCCCAGCTCTGCCTCTGACACACGCCTTGCCTCCGTGTTCTCTTCTGTGAATAAAAGCACCAACCTTGAGGGCTGTTGTGGTCATTAAATGAGTAACTCTACCTGCCTTCTACCTGTCTGTGTGTGTATGTGTGTGTGTATATATACCCCCTATATATATGACATATAGCATAAACATCAAATATGTAACAGTATTAAAAATATAATCTGAATTTAATATTGTGATGGTCAATTTAACGTGTCCACTTGGCCAGGCCATTGTTCCCAGATATTTGGTCAAACACTAGTTGTAAAGGCATTTTTCAGATGAGGTTCATATGTTAATCAGTCAACCAGGCAGAGTGGATGACCCTTCACAATGGGGGTGGGCCTCATCCAATCAGTTGACAGCTTTAAGAGACAGAAGACCCACCTTCCCCAAAGAAGAGGGAATCTGCTAAAAAGTGGCCTTCTGGCCATGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTTGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGGCGTGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCTAGCCTGTGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAGTGACCTTCTATTTAAGCACAGCATCAACTCTTCCCTGGGGCTCCAGGCTGCCCTGAAGATCTTGGACTTGTCACTCTTCAATCACATGAGTTGAAAAATACATCTCTTTCTTACACGTATACCCTCCACCCCTCTATTGATTCTGCTTCTTGGGAGAAACCTAATATATAGTATAAAAAATGTACATCTCGAGACACACACAGAGGCTAAAGCAAGTAAGAGCTATTATATAGTGGGACCTATTGCTACGTTTTCACATCCTTGGAAAATGGAGTTTATAAAACCAGGGAACCAGCAGACCTGCAGCCAGCCAGGTGGAGAAATGGGGCCGGGTGGGCCATGCGGGGGGCTCCAAGGACCTGGTGTGAGCATGGGGCCAGCTGGGGCTCTGCACCCTCCACCTGGTACTGGCCCCCTCTGCTGTGGGAATCCTGGTTTTCCAGGACACCCGCACCTCCATCCCACAGGACTGGCTGTCACAGGTGATGCCGGGCCTGTCACATCCTGAATAGGTGACAGCCTCTCCACGTTGGTTCTCTCCACTTGGGCACAGCCTCTTGGGGCAGGCCACCCCACCGTTCTGCTAAGCAAGTGCCCTGGGGTGAGTTATTTCTGTCCCCAGGGGGCTCGTTGCTCTTGAAATGGGCAGGTGGCATCTGGTCAAGCAGCCACCTTACCTGGGAGCCCAGCACTCTCCCCAAATCAGAGCAGGGCTGCTCTCGTTGAGCTGGGAGGGGAGTGGGGGGCTTGATGCCAATGACAAGGCCACTTGCTATCCCCTACTGTCCTGGAACTCCCAGGGCAGCCCTGCCCCAGTGCCCAGCACATCCTAGGAGGCAGGAATGAAGAGGACCCCTCCTGCCAGTGCCCGCACTGACCCACCTCCACCTCCACTGCCCCATCCAGCCCTGAGCCGGCATCTGCCCTACTTTGCAGATGTTAGG
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AAATTGGCCTGGAAAGCCCTTCTCACATCAAGGCAGGAAGATAATAATGACCCTCATCTTTCAAAAGAGGAAGCTGAGACACTGAGAGGGTAGGTCCCCTGAAGGTCATACAGCTCTTAAATGCTGGGGCCAGGATTCCAACGCAGGCAGGGAGGCCCGGATCTGAGCTCACAGTGACCACACCCCAGCCTCTGTGAACTGAATTTACGCAATGTCTGGGAAGAAAAGGCAGGGTCCACTCCGCTCAGAGCCATGCAGGGCAGTGTGCTCCCGTCTCCCCGGCATTTGAATCACTCTTGTGGTGTGTGTCCAGCACAGATGCACGGGACCCCTCAGGCCCATATCCTCAAACAGGTAGTGGTGGGGCACCAGTGCACGAACACTAGGGCTCAGCAGTCAGCCTGGGCGGGTCACAGTTCCGATACCCTCCAGGCTGTCTGGGAGGCGGCCTGGCTGTGGGACCAGTTCTCATGTGAAGCAATGAAGCCACTCTGAGCTTGGCCCCCTGCCCTGGCATGGGCACTGGGCTGCCTGTGTGAAACTCTTGTTTCTCCAGGTGCAAGACAAACCTGGCACTCTTTCTGGCTTCTCCATTCACTTGCCGGGGGCAGGTGGCCAAGCCTGGTTTCATCTCCTTGGGGGGGAATGGAATACTCTCCACATTCAACCCAAAAACAGCCCCAGCAAAGGGCTGACATGGGAGGGAGAGGGGCAGGGTGGCGCCACGCACCCACGGGCACCCAATGCTTTGACGCCGAGACCCAAGCATCTCTCTCAGACATCCCTTCTCATACCAGAAACAGAGCCCACGTATACCAGTCAGACCTGCAGTCAGGCCCATTCACGAGTCAGGCCCATTCACCAGTCAGAAACCACACAGCCACTTATTTGAACAGGGGAAGTTTAATATAAAGATGAACTCTACTCGGAGCATAGAGTTTAAAAAGAGTTCTACACAACACCCTAGGGATGAGGAAGAATGCCTCAGGGAAGAAAGCACAGAAAAGGAGGTGCCCTCCCGAGGCTGGGACTGAGACCTCCTCGCTGGAGAAGGTGTGGGAGGCCCCTGAGGGTGAAGTTCCCCGGGTTGCTCGAGCCAGAGTCTGCACAGTCATAGGGCAAGCAGAAAATTCTTTCGAGAGGGTGGGCGCTCACAGGGAATCGGGAAGCAGAGCCCACCTGCCTACACCTGAAAGGCCACAGCCGGTGCTGGGACCTCTCTGAGGTCTGCAGACTCCAGGCAGAGCACTCCTGGCAGCTGTGCAGCAGGAGCAGGAAGGAAACGACATGAAAGCCCCTTTCTCCCCAGTGTCCCAGTTCAACACCGTGCACGCTACCAAGGAGAAACGGCGCACGGGCCCCACCCACGACTGCAGAGCAGGCAGGGGAGGGGGATCTAGAGCTGAAAGGCAATACATGGATAACGCGCACGCCCCACTCCCACTTTTATTTAGCAAGAGTAAATGCAGCCTAATGACAGGGCGTGGGAAGACCTCCTGCTCACCAGTGTGGGCAGAGTGTAGCGTGGCCTGGGCTCCTAATACAGGTAAATTGTCTCCAAAGGACTAGTAAAGGTGACTGGGTCATCCTCCTGCCCCAGGGACACTGATTAGAGAAAATCCGTCTGTGCTGGCAATACGGCAGTGCTGGACACTCGGAATTCCCTTGAAGGCAAAAGCAAGGAACAGAGCGTGATTAGGTACTGGACACCTGCCAAGTGCTGGGCTCTCTCCAGTTTACAGATGAGGAAACTGAGGCTCCTCGAGTTGGAGCTGGGATGCCAGCCCCCATGGACCTGGCAGAACACGCTCTTGACAGCCCCACAGGGCTTCTCCCTAGGGCGTGCCCTTAGAAGATTCCAGGCAGCAGGCGGTAAGGCACTGCGGCGGTGTAGCGCTCCCAGTCCCGGCCGTACTTGCTGGCGCAGCGGTGCTCGTCCCGGAGGCAGCGGTGGGTCAGCAGGATGGCCATGTAGATGATGTAGAAGTAGGGCAGCAGGTGGCCGCCGCCACAGGCCAGGCAGTAGGCCAGGCTGCCCATCAGGTCGCTGACGTAGTTGAAGTGGCGGGCCACGCCCCAGAAGCCCGACACCAGCAGCTTGCTGTGGTGCCTCTGCCCATCGGCGGATGTGTAGGAGCACTCGATGACCTTGGGCTTCCTGCCCCAGATGAGGCAGCGCCCATCCGTGCGGCGGAACAGGTCCTTCTGGTGGTTGGCCACCCGGAAGATGTAGTAGCCCACCAGGCCCAGCAGCAGGACGCCCACGGCGTGCGGGGTGGACAGCTGCACGGGGTGGTACACCAAGTACAGACCCTGGGGGGCGAGGGGGAAGGGGTCAAGCGGTGCTTTGCCCAGGGAGAGGACAGGAGTGTGGGCTCGGGGGCCCAGCGGCCTGGGGTCAAACCCCAGCTCTGCCTCTGACACACGCCTTGCCTCCGTGTTCTCTTCTGTGAATAAAAGCACCAACCTTGAGGGCTGTTGTGGTCATTAAATGAGTAACTCTACCTGCCTTCTACCTGTCTGTGTGTGTATGTGTGTGTGTATATATACCCCCTATATATATGACATATAGCATAAACATCAAATATGTAACAGTATTAAAAATATAATCTGAATTTAATATTGTGATGGTCAATTTAACGTGTCCACTTGGCCAGGCCATTGTTCCCAGATATTTGGTCAAACACTAGTTGTAAAGGCATTTTTCAGATGAGGTTCATATGTTAATCAGTCAACCAGGCAGAGTGGATGACCCTTCACAATGGGGGTGGGCCTCATCCAATCAGTTGACAGCTTTAAGAGACAGAAGACCCACCTTCCCCAAAGAAGAGGGAATCTGCTAAAAAGTGGCCTTCTGGCCATGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTTGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGGCGTGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCTAGCCTGTGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAGTGACCTTCTATTTAAGCACAGCATCAACTCTTCCCTGGGGCTCCAGGCTGCCCTGAAGATCTTGGACTTGTCACTCTTCAATCACATGAGTTGAAAAATACATCTCTTTCTTACACGTATACCCTCCACCCCTCTATTGATTCTGCTTCTTGGGAGAAACCTAATATATAGTATAAAAAATGTACATCTCGAGACACACACAGAGGCTAAAGCAAGTAAGAGCTATTATATAGTGGGACCTATTGCTACGTTTTCACATCCTTGGAAAATGGAGTTTATAAAACCAGGGAACCAGCAGACCTGCAGCCAGCCAGGTGGAGAAATGGGGCCGGGTGGGCCATGCGGGGGGCTCCAAGGACCTGGTGTGAGCATGGGGCCAGCTGGGGCTCTGCACCCTCCACCTGGTACTGGCCCCCTCTGCTGTGGGAATCCTGGTTTTCCAGGACACCCGCACCTCCATCCCACAGGACTGGCTGTCACAGGTGATGCCGGGCCTGTCACATCCTGAATAGGTGACAGCCTCTCCACGTTGGTTCTCTCCACTTGGGCACAGCCTCTTGGGGCAGGCCACCCCACCGTTCTGCTAAGCAAGTGCCCTGGGGTGAGTTATTTCTGTCCCCAGGGGGCTCGTTGCTCTTGAAATGGGCAGGTGGCATCTGGTCAAGCAGCCACCTTACCTGGGAGCCCAGCACTCTCCCCAAATCAGAGCAGGGCTGCTCTCGTTGAGCTGGGAGGGGAGTGGGGGGCTTGATGCCAATGACAAGGCCACTTGCTATCCCCTACTGTCCTGGAACTCCCAGGGCAGCCCTGCCCCAGTGCCCAGCACATCCTAGGAGGCAGGAATGAAGAGGACCCCTCCTGCCAGTGCCCGCACTGACCCACCTCCACCTCCACTGCCCCATCCAGCCCTGAGCCGGCATCTGCCCTACTTTGCAGATGTTAGG
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Task1_train_16239
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Consider a variant on Chromosome 11 in gene DHCR7 (7-dehydrocholesterol reductase). Determine its clinical classification and disease relevance.
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Pathogenic; Smith-Lemli-Opitz syndrome
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AAATTGGCCTGGAAAGCCCTTCTCACATCAAGGCAGGAAGATAATAATGACCCTCATCTTTCAAAAGAGGAAGCTGAGACACTGAGAGGGTAGGTCCCCTGAAGGTCATACAGCTCTTAAATGCTGGGGCCAGGATTCCAACGCAGGCAGGGAGGCCCGGATCTGAGCTCACAGTGACCACACCCCAGCCTCTGTGAACTGAATTTACGCAATGTCTGGGAAGAAAAGGCAGGGTCCACTCCGCTCAGAGCCATGCAGGGCAGTGTGCTCCCGTCTCCCCGGCATTTGAATCACTCTTGTGGTGTGTGTCCAGCACAGATGCACGGGACCCCTCAGGCCCATATCCTCAAACAGGTAGTGGTGGGGCACCAGTGCACGAACACTAGGGCTCAGCAGTCAGCCTGGGCGGGTCACAGTTCCGATACCCTCCAGGCTGTCTGGGAGGCGGCCTGGCTGTGGGACCAGTTCTCATGTGAAGCAATGAAGCCACTCTGAGCTTGGCCCCCTGCCCTGGCATGGGCACTGGGCTGCCTGTGTGAAACTCTTGTTTCTCCAGGTGCAAGACAAACCTGGCACTCTTTCTGGCTTCTCCATTCACTTGCCGGGGGCAGGTGGCCAAGCCTGGTTTCATCTCCTTGGGGGGGAATGGAATACTCTCCACATTCAACCCAAAAACAGCCCCAGCAAAGGGCTGACATGGGAGGGAGAGGGGCAGGGTGGCGCCACGCACCCACGGGCACCCAATGCTTTGACGCCGAGACCCAAGCATCTCTCTCAGACATCCCTTCTCATACCAGAAACAGAGCCCACGTATACCAGTCAGACCTGCAGTCAGGCCCATTCACGAGTCAGGCCCATTCACCAGTCAGAAACCACACAGCCACTTATTTGAACAGGGGAAGTTTAATATAAAGATGAACTCTACTCGGAGCATAGAGTTTAAAAAGAGTTCTACACAACACCCTAGGGATGAGGAAGAATGCCTCAGGGAAGAAAGCACAGAAAAGGAGGTGCCCTCCCGAGGCTGGGACTGAGACCTCCTCGCTGGAGAAGGTGTGGGAGGCCCCTGAGGGTGAAGTTCCCCGGGTTGCTCGAGCCAGAGTCTGCACAGTCATAGGGCAAGCAGAAAATTCTTTCGAGAGGGTGGGCGCTCACAGGGAATCGGGAAGCAGAGCCCACCTGCCTACACCTGAAAGGCCACAGCCGGTGCTGGGACCTCTCTGAGGTCTGCAGACTCCAGGCAGAGCACTCCTGGCAGCTGTGCAGCAGGAGCAGGAAGGAAACGACATGAAAGCCCCTTTCTCCCCAGTGTCCCAGTTCAACACCGTGCACGCTACCAAGGAGAAACGGCGCACGGGCCCCACCCACGACTGCAGAGCAGGCAGGGGAGGGGGATCTAGAGCTGAAAGGCAATACATGGATAACGCGCACGCCCCACTCCCACTTTTATTTAGCAAGAGTAAATGCAGCCTAATGACAGGGCGTGGGAAGACCTCCTGCTCACCAGTGTGGGCAGAGTGTAGCGTGGCCTGGGCTCCTAATACAGGTAAATTGTCTCCAAAGGACTAGTAAAGGTGACTGGGTCATCCTCCTGCCCCAGGGACACTGATTAGAGAAAATCCGTCTGTGCTGGCAATACGGCAGTGCTGGACACTCGGAATTCCCTTGAAGGCAAAAGCAAGGAACAGAGCGTGATTAGGTACTGGACACCTGCCAAGTGCTGGGCTCTCTCCAGTTTACAGATGAGGAAACTGAGGCTCCTCGAGTTGGAGCTGGGATGCCAGCCCCCATGGACCTGGCAGAACACGCTCTTGACAGCCCCACAGGGCTTCTCCCTAGGGCGTGCCCTTAGAAGATTCCAGGCAGCAGGCGGTAAGGCACTGCGGCGGTGTAGCGCTCCCAGTCCCGGCCGTACTTGCTGGCGCAGCGGTGCTCGTCCCGGAGGCAGCGGTGGGTCAGCAGGATGGCCATGTAGATGATGTAGAAGTAGGGCAGCAGGTGGCCGCCGCCACAGGCCAGGCAGTAGGCCAGGCTGCCCATCAGGTCGCCGACGTAGTTGAAGTGGCGGGCCACGCCCCAGAAGCCCGACACCAGCAGCTTGCTGTGGTGCCTCTGCCCATCGGCGGATGTGTAGGAGCACTCGATGACCTTGGGCTTCCTGCCCCAGATGAGGCAGCGCCCATCCGTGCGGCGGAACAGGTCCTTCTGGTGGTTGGCCACCCGGAAGATGTAGTAGCCCACCAGGCCCAGCAGCAGGACGCCCACGGCGTGCGGGGTGGACAGCTGCACGGGGTGGTACACCAAGTACAGACCCTGGGGGGCGAGGGGGAAGGGGTCAAGCGGTGCTTTGCCCAGGGAGAGGACAGGAGTGTGGGCTCGGGGGCCCAGCGGCCTGGGGTCAAACCCCAGCTCTGCCTCTGACACACGCCTTGCCTCCGTGTTCTCTTCTGTGAATAAAAGCACCAACCTTGAGGGCTGTTGTGGTCATTAAATGAGTAACTCTACCTGCCTTCTACCTGTCTGTGTGTGTATGTGTGTGTGTATATATACCCCCTATATATATGACATATAGCATAAACATCAAATATGTAACAGTATTAAAAATATAATCTGAATTTAATATTGTGATGGTCAATTTAACGTGTCCACTTGGCCAGGCCATTGTTCCCAGATATTTGGTCAAACACTAGTTGTAAAGGCATTTTTCAGATGAGGTTCATATGTTAATCAGTCAACCAGGCAGAGTGGATGACCCTTCACAATGGGGGTGGGCCTCATCCAATCAGTTGACAGCTTTAAGAGACAGAAGACCCACCTTCCCCAAAGAAGAGGGAATCTGCTAAAAAGTGGCCTTCTGGCCATGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTTGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGGCGTGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCTAGCCTGTGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAGTGACCTTCTATTTAAGCACAGCATCAACTCTTCCCTGGGGCTCCAGGCTGCCCTGAAGATCTTGGACTTGTCACTCTTCAATCACATGAGTTGAAAAATACATCTCTTTCTTACACGTATACCCTCCACCCCTCTATTGATTCTGCTTCTTGGGAGAAACCTAATATATAGTATAAAAAATGTACATCTCGAGACACACACAGAGGCTAAAGCAAGTAAGAGCTATTATATAGTGGGACCTATTGCTACGTTTTCACATCCTTGGAAAATGGAGTTTATAAAACCAGGGAACCAGCAGACCTGCAGCCAGCCAGGTGGAGAAATGGGGCCGGGTGGGCCATGCGGGGGGCTCCAAGGACCTGGTGTGAGCATGGGGCCAGCTGGGGCTCTGCACCCTCCACCTGGTACTGGCCCCCTCTGCTGTGGGAATCCTGGTTTTCCAGGACACCCGCACCTCCATCCCACAGGACTGGCTGTCACAGGTGATGCCGGGCCTGTCACATCCTGAATAGGTGACAGCCTCTCCACGTTGGTTCTCTCCACTTGGGCACAGCCTCTTGGGGCAGGCCACCCCACCGTTCTGCTAAGCAAGTGCCCTGGGGTGAGTTATTTCTGTCCCCAGGGGGCTCGTTGCTCTTGAAATGGGCAGGTGGCATCTGGTCAAGCAGCCACCTTACCTGGGAGCCCAGCACTCTCCCCAAATCAGAGCAGGGCTGCTCTCGTTGAGCTGGGAGGGGAGTGGGGGGCTTGATGCCAATGACAAGGCCACTTGCTATCCCCTACTGTCCTGGAACTCCCAGGGCAGCCCTGCCCCAGTGCCCAGCACATCCTAGGAGGCAGGAATGAAGAGGACCCCTCCTGCCAGTGCCCGCACTGACCCACCTCCACCTCCACTGCCCCATCCAGCCCTGAGCCGGCATCTGCCCTACTTTGCAGATGTTAGG
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AAATTGGCCTGGAAAGCCCTTCTCACATCAAGGCAGGAAGATAATAATGACCCTCATCTTTCAAAAGAGGAAGCTGAGACACTGAGAGGGTAGGTCCCCTGAAGGTCATACAGCTCTTAAATGCTGGGGCCAGGATTCCAACGCAGGCAGGGAGGCCCGGATCTGAGCTCACAGTGACCACACCCCAGCCTCTGTGAACTGAATTTACGCAATGTCTGGGAAGAAAAGGCAGGGTCCACTCCGCTCAGAGCCATGCAGGGCAGTGTGCTCCCGTCTCCCCGGCATTTGAATCACTCTTGTGGTGTGTGTCCAGCACAGATGCACGGGACCCCTCAGGCCCATATCCTCAAACAGGTAGTGGTGGGGCACCAGTGCACGAACACTAGGGCTCAGCAGTCAGCCTGGGCGGGTCACAGTTCCGATACCCTCCAGGCTGTCTGGGAGGCGGCCTGGCTGTGGGACCAGTTCTCATGTGAAGCAATGAAGCCACTCTGAGCTTGGCCCCCTGCCCTGGCATGGGCACTGGGCTGCCTGTGTGAAACTCTTGTTTCTCCAGGTGCAAGACAAACCTGGCACTCTTTCTGGCTTCTCCATTCACTTGCCGGGGGCAGGTGGCCAAGCCTGGTTTCATCTCCTTGGGGGGGAATGGAATACTCTCCACATTCAACCCAAAAACAGCCCCAGCAAAGGGCTGACATGGGAGGGAGAGGGGCAGGGTGGCGCCACGCACCCACGGGCACCCAATGCTTTGACGCCGAGACCCAAGCATCTCTCTCAGACATCCCTTCTCATACCAGAAACAGAGCCCACGTATACCAGTCAGACCTGCAGTCAGGCCCATTCACGAGTCAGGCCCATTCACCAGTCAGAAACCACACAGCCACTTATTTGAACAGGGGAAGTTTAATATAAAGATGAACTCTACTCGGAGCATAGAGTTTAAAAAGAGTTCTACACAACACCCTAGGGATGAGGAAGAATGCCTCAGGGAAGAAAGCACAGAAAAGGAGGTGCCCTCCCGAGGCTGGGACTGAGACCTCCTCGCTGGAGAAGGTGTGGGAGGCCCCTGAGGGTGAAGTTCCCCGGGTTGCTCGAGCCAGAGTCTGCACAGTCATAGGGCAAGCAGAAAATTCTTTCGAGAGGGTGGGCGCTCACAGGGAATCGGGAAGCAGAGCCCACCTGCCTACACCTGAAAGGCCACAGCCGGTGCTGGGACCTCTCTGAGGTCTGCAGACTCCAGGCAGAGCACTCCTGGCAGCTGTGCAGCAGGAGCAGGAAGGAAACGACATGAAAGCCCCTTTCTCCCCAGTGTCCCAGTTCAACACCGTGCACGCTACCAAGGAGAAACGGCGCACGGGCCCCACCCACGACTGCAGAGCAGGCAGGGGAGGGGGATCTAGAGCTGAAAGGCAATACATGGATAACGCGCACGCCCCACTCCCACTTTTATTTAGCAAGAGTAAATGCAGCCTAATGACAGGGCGTGGGAAGACCTCCTGCTCACCAGTGTGGGCAGAGTGTAGCGTGGCCTGGGCTCCTAATACAGGTAAATTGTCTCCAAAGGACTAGTAAAGGTGACTGGGTCATCCTCCTGCCCCAGGGACACTGATTAGAGAAAATCCGTCTGTGCTGGCAATACGGCAGTGCTGGACACTCGGAATTCCCTTGAAGGCAAAAGCAAGGAACAGAGCGTGATTAGGTACTGGACACCTGCCAAGTGCTGGGCTCTCTCCAGTTTACAGATGAGGAAACTGAGGCTCCTCGAGTTGGAGCTGGGATGCCAGCCCCCATGGACCTGGCAGAACACGCTCTTGACAGCCCCACAGGGCTTCTCCCTAGGGCGTGCCCTTAGAAGATTCCAGGCAGCAGGCGGTAAGGCACTGCGGCGGTGTAGCGCTCCCAGTCCCGGCCGTACTTGCTGGCGCAGCGGTGCTCGTCCCGGAGGCAGCGGTGGGTCAGCAGGATGGCCATGTAGATGATGTAGAAGTAGGGCAGCAGGTGGCCGCCGCCACAGGCCAGGCAGTAGGCCAGGCTGCCCATCAGGTCGCTGACGTAGTTGAAGTGGCGGGCCACGCCCCAGAAGCCCGACACCAGCAGCTTGCTGTGGTGCCTCTGCCCATCGGCGGATGTGTAGGAGCACTCGATGACCTTGGGCTTCCTGCCCCAGATGAGGCAGCGCCCATCCGTGCGGCGGAACAGGTCCTTCTGGTGGTTGGCCACCCGGAAGATGTAGTAGCCCACCAGGCCCAGCAGCAGGACGCCCACGGCGTGCGGGGTGGACAGCTGCACGGGGTGGTACACCAAGTACAGACCCTGGGGGGCGAGGGGGAAGGGGTCAAGCGGTGCTTTGCCCAGGGAGAGGACAGGAGTGTGGGCTCGGGGGCCCAGCGGCCTGGGGTCAAACCCCAGCTCTGCCTCTGACACACGCCTTGCCTCCGTGTTCTCTTCTGTGAATAAAAGCACCAACCTTGAGGGCTGTTGTGGTCATTAAATGAGTAACTCTACCTGCCTTCTACCTGTCTGTGTGTGTATGTGTGTGTGTATATATACCCCCTATATATATGACATATAGCATAAACATCAAATATGTAACAGTATTAAAAATATAATCTGAATTTAATATTGTGATGGTCAATTTAACGTGTCCACTTGGCCAGGCCATTGTTCCCAGATATTTGGTCAAACACTAGTTGTAAAGGCATTTTTCAGATGAGGTTCATATGTTAATCAGTCAACCAGGCAGAGTGGATGACCCTTCACAATGGGGGTGGGCCTCATCCAATCAGTTGACAGCTTTAAGAGACAGAAGACCCACCTTCCCCAAAGAAGAGGGAATCTGCTAAAAAGTGGCCTTCTGGCCATGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTTGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGGCGTGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCTAGCCTGTGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAGTGACCTTCTATTTAAGCACAGCATCAACTCTTCCCTGGGGCTCCAGGCTGCCCTGAAGATCTTGGACTTGTCACTCTTCAATCACATGAGTTGAAAAATACATCTCTTTCTTACACGTATACCCTCCACCCCTCTATTGATTCTGCTTCTTGGGAGAAACCTAATATATAGTATAAAAAATGTACATCTCGAGACACACACAGAGGCTAAAGCAAGTAAGAGCTATTATATAGTGGGACCTATTGCTACGTTTTCACATCCTTGGAAAATGGAGTTTATAAAACCAGGGAACCAGCAGACCTGCAGCCAGCCAGGTGGAGAAATGGGGCCGGGTGGGCCATGCGGGGGGCTCCAAGGACCTGGTGTGAGCATGGGGCCAGCTGGGGCTCTGCACCCTCCACCTGGTACTGGCCCCCTCTGCTGTGGGAATCCTGGTTTTCCAGGACACCCGCACCTCCATCCCACAGGACTGGCTGTCACAGGTGATGCCGGGCCTGTCACATCCTGAATAGGTGACAGCCTCTCCACGTTGGTTCTCTCCACTTGGGCACAGCCTCTTGGGGCAGGCCACCCCACCGTTCTGCTAAGCAAGTGCCCTGGGGTGAGTTATTTCTGTCCCCAGGGGGCTCGTTGCTCTTGAAATGGGCAGGTGGCATCTGGTCAAGCAGCCACCTTACCTGGGAGCCCAGCACTCTCCCCAAATCAGAGCAGGGCTGCTCTCGTTGAGCTGGGAGGGGAGTGGGGGGCTTGATGCCAATGACAAGGCCACTTGCTATCCCCTACTGTCCTGGAACTCCCAGGGCAGCCCTGCCCCAGTGCCCAGCACATCCTAGGAGGCAGGAATGAAGAGGACCCCTCCTGCCAGTGCCCGCACTGACCCACCTCCACCTCCACTGCCCCATCCAGCCCTGAGCCGGCATCTGCCCTACTTTGCAGATGTTAGG
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Task1_train_16240
|
Consider a variant on Chromosome 11 in gene DHCR7 (7-dehydrocholesterol reductase). Determine its clinical classification and disease relevance.
|
Pathogenic; Smith-Lemli-Opitz syndrome
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CTGGAAAGCCCTTCTCACATCAAGGCAGGAAGATAATAATGACCCTCATCTTTCAAAAGAGGAAGCTGAGACACTGAGAGGGTAGGTCCCCTGAAGGTCATACAGCTCTTAAATGCTGGGGCCAGGATTCCAACGCAGGCAGGGAGGCCCGGATCTGAGCTCACAGTGACCACACCCCAGCCTCTGTGAACTGAATTTACGCAATGTCTGGGAAGAAAAGGCAGGGTCCACTCCGCTCAGAGCCATGCAGGGCAGTGTGCTCCCGTCTCCCCGGCATTTGAATCACTCTTGTGGTGTGTGTCCAGCACAGATGCACGGGACCCCTCAGGCCCATATCCTCAAACAGGTAGTGGTGGGGCACCAGTGCACGAACACTAGGGCTCAGCAGTCAGCCTGGGCGGGTCACAGTTCCGATACCCTCCAGGCTGTCTGGGAGGCGGCCTGGCTGTGGGACCAGTTCTCATGTGAAGCAATGAAGCCACTCTGAGCTTGGCCCCCTGCCCTGGCATGGGCACTGGGCTGCCTGTGTGAAACTCTTGTTTCTCCAGGTGCAAGACAAACCTGGCACTCTTTCTGGCTTCTCCATTCACTTGCCGGGGGCAGGTGGCCAAGCCTGGTTTCATCTCCTTGGGGGGGAATGGAATACTCTCCACATTCAACCCAAAAACAGCCCCAGCAAAGGGCTGACATGGGAGGGAGAGGGGCAGGGTGGCGCCACGCACCCACGGGCACCCAATGCTTTGACGCCGAGACCCAAGCATCTCTCTCAGACATCCCTTCTCATACCAGAAACAGAGCCCACGTATACCAGTCAGACCTGCAGTCAGGCCCATTCACGAGTCAGGCCCATTCACCAGTCAGAAACCACACAGCCACTTATTTGAACAGGGGAAGTTTAATATAAAGATGAACTCTACTCGGAGCATAGAGTTTAAAAAGAGTTCTACACAACACCCTAGGGATGAGGAAGAATGCCTCAGGGAAGAAAGCACAGAAAAGGAGGTGCCCTCCCGAGGCTGGGACTGAGACCTCCTCGCTGGAGAAGGTGTGGGAGGCCCCTGAGGGTGAAGTTCCCCGGGTTGCTCGAGCCAGAGTCTGCACAGTCATAGGGCAAGCAGAAAATTCTTTCGAGAGGGTGGGCGCTCACAGGGAATCGGGAAGCAGAGCCCACCTGCCTACACCTGAAAGGCCACAGCCGGTGCTGGGACCTCTCTGAGGTCTGCAGACTCCAGGCAGAGCACTCCTGGCAGCTGTGCAGCAGGAGCAGGAAGGAAACGACATGAAAGCCCCTTTCTCCCCAGTGTCCCAGTTCAACACCGTGCACGCTACCAAGGAGAAACGGCGCACGGGCCCCACCCACGACTGCAGAGCAGGCAGGGGAGGGGGATCTAGAGCTGAAAGGCAATACATGGATAACGCGCACGCCCCACTCCCACTTTTATTTAGCAAGAGTAAATGCAGCCTAATGACAGGGCGTGGGAAGACCTCCTGCTCACCAGTGTGGGCAGAGTGTAGCGTGGCCTGGGCTCCTAATACAGGTAAATTGTCTCCAAAGGACTAGTAAAGGTGACTGGGTCATCCTCCTGCCCCAGGGACACTGATTAGAGAAAATCCGTCTGTGCTGGCAATACGGCAGTGCTGGACACTCGGAATTCCCTTGAAGGCAAAAGCAAGGAACAGAGCGTGATTAGGTACTGGACACCTGCCAAGTGCTGGGCTCTCTCCAGTTTACAGATGAGGAAACTGAGGCTCCTCGAGTTGGAGCTGGGATGCCAGCCCCCATGGACCTGGCAGAACACGCTCTTGACAGCCCCACAGGGCTTCTCCCTAGGGCGTGCCCTTAGAAGATTCCAGGCAGCAGGCGGTAAGGCACTGCGGCGGTGTAGCGCTCCCAGTCCCGGCCGTACTTGCTGGCGCAGCGGTGCTCGTCCCGGAGGCAGCGGTGGGTCAGCAGGATGGCCATGTAGATGATGTAGAAGTAGGGCAGCAGGTGGCCGCCGCCACAGGCCAGGCAGTAGGCCAGGCTGCCCATCAGGTCGCCGACGTAGTTGAAGTGGCGGGCCACGCCCCAGAAGCCCGACACCAGCAGCTTGCTGTGGTGCCTCTGCCCATCGGCGGATGTGTAGGAGCACTCGATGACCTTGGGCTTCCTGCCCCAGATGAGGCAGCGCCCATCCGTGCGGCGGAACAGGTCCTTCTGGTGGTTGGCCACCCGGAAGATGTAGTAGCCCACCAGGCCCAGCAGCAGGACGCCCACGGCGTGCGGGGTGGACAGCTGCACGGGGTGGTACACCAAGTACAGACCCTGGGGGGCGAGGGGGAAGGGGTCAAGCGGTGCTTTGCCCAGGGAGAGGACAGGAGTGTGGGCTCGGGGGCCCAGCGGCCTGGGGTCAAACCCCAGCTCTGCCTCTGACACACGCCTTGCCTCCGTGTTCTCTTCTGTGAATAAAAGCACCAACCTTGAGGGCTGTTGTGGTCATTAAATGAGTAACTCTACCTGCCTTCTACCTGTCTGTGTGTGTATGTGTGTGTGTATATATACCCCCTATATATATGACATATAGCATAAACATCAAATATGTAACAGTATTAAAAATATAATCTGAATTTAATATTGTGATGGTCAATTTAACGTGTCCACTTGGCCAGGCCATTGTTCCCAGATATTTGGTCAAACACTAGTTGTAAAGGCATTTTTCAGATGAGGTTCATATGTTAATCAGTCAACCAGGCAGAGTGGATGACCCTTCACAATGGGGGTGGGCCTCATCCAATCAGTTGACAGCTTTAAGAGACAGAAGACCCACCTTCCCCAAAGAAGAGGGAATCTGCTAAAAAGTGGCCTTCTGGCCATGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTTGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGGCGTGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCTAGCCTGTGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAGTGACCTTCTATTTAAGCACAGCATCAACTCTTCCCTGGGGCTCCAGGCTGCCCTGAAGATCTTGGACTTGTCACTCTTCAATCACATGAGTTGAAAAATACATCTCTTTCTTACACGTATACCCTCCACCCCTCTATTGATTCTGCTTCTTGGGAGAAACCTAATATATAGTATAAAAAATGTACATCTCGAGACACACACAGAGGCTAAAGCAAGTAAGAGCTATTATATAGTGGGACCTATTGCTACGTTTTCACATCCTTGGAAAATGGAGTTTATAAAACCAGGGAACCAGCAGACCTGCAGCCAGCCAGGTGGAGAAATGGGGCCGGGTGGGCCATGCGGGGGGCTCCAAGGACCTGGTGTGAGCATGGGGCCAGCTGGGGCTCTGCACCCTCCACCTGGTACTGGCCCCCTCTGCTGTGGGAATCCTGGTTTTCCAGGACACCCGCACCTCCATCCCACAGGACTGGCTGTCACAGGTGATGCCGGGCCTGTCACATCCTGAATAGGTGACAGCCTCTCCACGTTGGTTCTCTCCACTTGGGCACAGCCTCTTGGGGCAGGCCACCCCACCGTTCTGCTAAGCAAGTGCCCTGGGGTGAGTTATTTCTGTCCCCAGGGGGCTCGTTGCTCTTGAAATGGGCAGGTGGCATCTGGTCAAGCAGCCACCTTACCTGGGAGCCCAGCACTCTCCCCAAATCAGAGCAGGGCTGCTCTCGTTGAGCTGGGAGGGGAGTGGGGGGCTTGATGCCAATGACAAGGCCACTTGCTATCCCCTACTGTCCTGGAACTCCCAGGGCAGCCCTGCCCCAGTGCCCAGCACATCCTAGGAGGCAGGAATGAAGAGGACCCCTCCTGCCAGTGCCCGCACTGACCCACCTCCACCTCCACTGCCCCATCCAGCCCTGAGCCGGCATCTGCCCTACTTTGCAGATGTTAGGGACATACT
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CTGGAAAGCCCTTCTCACATCAAGGCAGGAAGATAATAATGACCCTCATCTTTCAAAAGAGGAAGCTGAGACACTGAGAGGGTAGGTCCCCTGAAGGTCATACAGCTCTTAAATGCTGGGGCCAGGATTCCAACGCAGGCAGGGAGGCCCGGATCTGAGCTCACAGTGACCACACCCCAGCCTCTGTGAACTGAATTTACGCAATGTCTGGGAAGAAAAGGCAGGGTCCACTCCGCTCAGAGCCATGCAGGGCAGTGTGCTCCCGTCTCCCCGGCATTTGAATCACTCTTGTGGTGTGTGTCCAGCACAGATGCACGGGACCCCTCAGGCCCATATCCTCAAACAGGTAGTGGTGGGGCACCAGTGCACGAACACTAGGGCTCAGCAGTCAGCCTGGGCGGGTCACAGTTCCGATACCCTCCAGGCTGTCTGGGAGGCGGCCTGGCTGTGGGACCAGTTCTCATGTGAAGCAATGAAGCCACTCTGAGCTTGGCCCCCTGCCCTGGCATGGGCACTGGGCTGCCTGTGTGAAACTCTTGTTTCTCCAGGTGCAAGACAAACCTGGCACTCTTTCTGGCTTCTCCATTCACTTGCCGGGGGCAGGTGGCCAAGCCTGGTTTCATCTCCTTGGGGGGGAATGGAATACTCTCCACATTCAACCCAAAAACAGCCCCAGCAAAGGGCTGACATGGGAGGGAGAGGGGCAGGGTGGCGCCACGCACCCACGGGCACCCAATGCTTTGACGCCGAGACCCAAGCATCTCTCTCAGACATCCCTTCTCATACCAGAAACAGAGCCCACGTATACCAGTCAGACCTGCAGTCAGGCCCATTCACGAGTCAGGCCCATTCACCAGTCAGAAACCACACAGCCACTTATTTGAACAGGGGAAGTTTAATATAAAGATGAACTCTACTCGGAGCATAGAGTTTAAAAAGAGTTCTACACAACACCCTAGGGATGAGGAAGAATGCCTCAGGGAAGAAAGCACAGAAAAGGAGGTGCCCTCCCGAGGCTGGGACTGAGACCTCCTCGCTGGAGAAGGTGTGGGAGGCCCCTGAGGGTGAAGTTCCCCGGGTTGCTCGAGCCAGAGTCTGCACAGTCATAGGGCAAGCAGAAAATTCTTTCGAGAGGGTGGGCGCTCACAGGGAATCGGGAAGCAGAGCCCACCTGCCTACACCTGAAAGGCCACAGCCGGTGCTGGGACCTCTCTGAGGTCTGCAGACTCCAGGCAGAGCACTCCTGGCAGCTGTGCAGCAGGAGCAGGAAGGAAACGACATGAAAGCCCCTTTCTCCCCAGTGTCCCAGTTCAACACCGTGCACGCTACCAAGGAGAAACGGCGCACGGGCCCCACCCACGACTGCAGAGCAGGCAGGGGAGGGGGATCTAGAGCTGAAAGGCAATACATGGATAACGCGCACGCCCCACTCCCACTTTTATTTAGCAAGAGTAAATGCAGCCTAATGACAGGGCGTGGGAAGACCTCCTGCTCACCAGTGTGGGCAGAGTGTAGCGTGGCCTGGGCTCCTAATACAGGTAAATTGTCTCCAAAGGACTAGTAAAGGTGACTGGGTCATCCTCCTGCCCCAGGGACACTGATTAGAGAAAATCCGTCTGTGCTGGCAATACGGCAGTGCTGGACACTCGGAATTCCCTTGAAGGCAAAAGCAAGGAACAGAGCGTGATTAGGTACTGGACACCTGCCAAGTGCTGGGCTCTCTCCAGTTTACAGATGAGGAAACTGAGGCTCCTCGAGTTGGAGCTGGGATGCCAGCCCCCATGGACCTGGCAGAACACGCTCTTGACAGCCCCACAGGGCTTCTCCCTAGGGCGTGCCCTTAGAAGATTCCAGGCAGCAGGCGGTAAGGCACTGCGGCGGTGTAGCGCTCCCAGTCCCGGCCGTACTTGCTGGCGCAGCGGTGCTCGTCCCGGAGGCAGCGGTGGGTCAGCAGGATGGCCATGTAGATGATGTAGAAGTAGGGCAGCAGGTGGCCGCCGCCACAGGCCAGGCAGTAGGCCAGGCTGCCCATCAGGTCGCCGACGTAGCTGAAGTGGCGGGCCACGCCCCAGAAGCCCGACACCAGCAGCTTGCTGTGGTGCCTCTGCCCATCGGCGGATGTGTAGGAGCACTCGATGACCTTGGGCTTCCTGCCCCAGATGAGGCAGCGCCCATCCGTGCGGCGGAACAGGTCCTTCTGGTGGTTGGCCACCCGGAAGATGTAGTAGCCCACCAGGCCCAGCAGCAGGACGCCCACGGCGTGCGGGGTGGACAGCTGCACGGGGTGGTACACCAAGTACAGACCCTGGGGGGCGAGGGGGAAGGGGTCAAGCGGTGCTTTGCCCAGGGAGAGGACAGGAGTGTGGGCTCGGGGGCCCAGCGGCCTGGGGTCAAACCCCAGCTCTGCCTCTGACACACGCCTTGCCTCCGTGTTCTCTTCTGTGAATAAAAGCACCAACCTTGAGGGCTGTTGTGGTCATTAAATGAGTAACTCTACCTGCCTTCTACCTGTCTGTGTGTGTATGTGTGTGTGTATATATACCCCCTATATATATGACATATAGCATAAACATCAAATATGTAACAGTATTAAAAATATAATCTGAATTTAATATTGTGATGGTCAATTTAACGTGTCCACTTGGCCAGGCCATTGTTCCCAGATATTTGGTCAAACACTAGTTGTAAAGGCATTTTTCAGATGAGGTTCATATGTTAATCAGTCAACCAGGCAGAGTGGATGACCCTTCACAATGGGGGTGGGCCTCATCCAATCAGTTGACAGCTTTAAGAGACAGAAGACCCACCTTCCCCAAAGAAGAGGGAATCTGCTAAAAAGTGGCCTTCTGGCCATGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTTGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGGCGTGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCTAGCCTGTGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAGTGACCTTCTATTTAAGCACAGCATCAACTCTTCCCTGGGGCTCCAGGCTGCCCTGAAGATCTTGGACTTGTCACTCTTCAATCACATGAGTTGAAAAATACATCTCTTTCTTACACGTATACCCTCCACCCCTCTATTGATTCTGCTTCTTGGGAGAAACCTAATATATAGTATAAAAAATGTACATCTCGAGACACACACAGAGGCTAAAGCAAGTAAGAGCTATTATATAGTGGGACCTATTGCTACGTTTTCACATCCTTGGAAAATGGAGTTTATAAAACCAGGGAACCAGCAGACCTGCAGCCAGCCAGGTGGAGAAATGGGGCCGGGTGGGCCATGCGGGGGGCTCCAAGGACCTGGTGTGAGCATGGGGCCAGCTGGGGCTCTGCACCCTCCACCTGGTACTGGCCCCCTCTGCTGTGGGAATCCTGGTTTTCCAGGACACCCGCACCTCCATCCCACAGGACTGGCTGTCACAGGTGATGCCGGGCCTGTCACATCCTGAATAGGTGACAGCCTCTCCACGTTGGTTCTCTCCACTTGGGCACAGCCTCTTGGGGCAGGCCACCCCACCGTTCTGCTAAGCAAGTGCCCTGGGGTGAGTTATTTCTGTCCCCAGGGGGCTCGTTGCTCTTGAAATGGGCAGGTGGCATCTGGTCAAGCAGCCACCTTACCTGGGAGCCCAGCACTCTCCCCAAATCAGAGCAGGGCTGCTCTCGTTGAGCTGGGAGGGGAGTGGGGGGCTTGATGCCAATGACAAGGCCACTTGCTATCCCCTACTGTCCTGGAACTCCCAGGGCAGCCCTGCCCCAGTGCCCAGCACATCCTAGGAGGCAGGAATGAAGAGGACCCCTCCTGCCAGTGCCCGCACTGACCCACCTCCACCTCCACTGCCCCATCCAGCCCTGAGCCGGCATCTGCCCTACTTTGCAGATGTTAGGGACATACT
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Task1_train_16241
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Assess the clinical impact of this variant on gene DHCR7 (7-dehydrocholesterol reductase), found on Chromosome 11. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Inborn genetic diseases
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CTTCTCACATCAAGGCAGGAAGATAATAATGACCCTCATCTTTCAAAAGAGGAAGCTGAGACACTGAGAGGGTAGGTCCCCTGAAGGTCATACAGCTCTTAAATGCTGGGGCCAGGATTCCAACGCAGGCAGGGAGGCCCGGATCTGAGCTCACAGTGACCACACCCCAGCCTCTGTGAACTGAATTTACGCAATGTCTGGGAAGAAAAGGCAGGGTCCACTCCGCTCAGAGCCATGCAGGGCAGTGTGCTCCCGTCTCCCCGGCATTTGAATCACTCTTGTGGTGTGTGTCCAGCACAGATGCACGGGACCCCTCAGGCCCATATCCTCAAACAGGTAGTGGTGGGGCACCAGTGCACGAACACTAGGGCTCAGCAGTCAGCCTGGGCGGGTCACAGTTCCGATACCCTCCAGGCTGTCTGGGAGGCGGCCTGGCTGTGGGACCAGTTCTCATGTGAAGCAATGAAGCCACTCTGAGCTTGGCCCCCTGCCCTGGCATGGGCACTGGGCTGCCTGTGTGAAACTCTTGTTTCTCCAGGTGCAAGACAAACCTGGCACTCTTTCTGGCTTCTCCATTCACTTGCCGGGGGCAGGTGGCCAAGCCTGGTTTCATCTCCTTGGGGGGGAATGGAATACTCTCCACATTCAACCCAAAAACAGCCCCAGCAAAGGGCTGACATGGGAGGGAGAGGGGCAGGGTGGCGCCACGCACCCACGGGCACCCAATGCTTTGACGCCGAGACCCAAGCATCTCTCTCAGACATCCCTTCTCATACCAGAAACAGAGCCCACGTATACCAGTCAGACCTGCAGTCAGGCCCATTCACGAGTCAGGCCCATTCACCAGTCAGAAACCACACAGCCACTTATTTGAACAGGGGAAGTTTAATATAAAGATGAACTCTACTCGGAGCATAGAGTTTAAAAAGAGTTCTACACAACACCCTAGGGATGAGGAAGAATGCCTCAGGGAAGAAAGCACAGAAAAGGAGGTGCCCTCCCGAGGCTGGGACTGAGACCTCCTCGCTGGAGAAGGTGTGGGAGGCCCCTGAGGGTGAAGTTCCCCGGGTTGCTCGAGCCAGAGTCTGCACAGTCATAGGGCAAGCAGAAAATTCTTTCGAGAGGGTGGGCGCTCACAGGGAATCGGGAAGCAGAGCCCACCTGCCTACACCTGAAAGGCCACAGCCGGTGCTGGGACCTCTCTGAGGTCTGCAGACTCCAGGCAGAGCACTCCTGGCAGCTGTGCAGCAGGAGCAGGAAGGAAACGACATGAAAGCCCCTTTCTCCCCAGTGTCCCAGTTCAACACCGTGCACGCTACCAAGGAGAAACGGCGCACGGGCCCCACCCACGACTGCAGAGCAGGCAGGGGAGGGGGATCTAGAGCTGAAAGGCAATACATGGATAACGCGCACGCCCCACTCCCACTTTTATTTAGCAAGAGTAAATGCAGCCTAATGACAGGGCGTGGGAAGACCTCCTGCTCACCAGTGTGGGCAGAGTGTAGCGTGGCCTGGGCTCCTAATACAGGTAAATTGTCTCCAAAGGACTAGTAAAGGTGACTGGGTCATCCTCCTGCCCCAGGGACACTGATTAGAGAAAATCCGTCTGTGCTGGCAATACGGCAGTGCTGGACACTCGGAATTCCCTTGAAGGCAAAAGCAAGGAACAGAGCGTGATTAGGTACTGGACACCTGCCAAGTGCTGGGCTCTCTCCAGTTTACAGATGAGGAAACTGAGGCTCCTCGAGTTGGAGCTGGGATGCCAGCCCCCATGGACCTGGCAGAACACGCTCTTGACAGCCCCACAGGGCTTCTCCCTAGGGCGTGCCCTTAGAAGATTCCAGGCAGCAGGCGGTAAGGCACTGCGGCGGTGTAGCGCTCCCAGTCCCGGCCGTACTTGCTGGCGCAGCGGTGCTCGTCCCGGAGGCAGCGGTGGGTCAGCAGGATGGCCATGTAGATGATGTAGAAGTAGGGCAGCAGGTGGCCGCCGCCACAGGCCAGGCAGTAGGCCAGGCTGCCCATCAGGTCGCCGACGTAGTTGAAGTGGCGGGCCACGCCCCAGAAGCCCGACACCAGCAGCTTGCTGTGGTGCCTCTGCCCATCGGCGGATGTGTAGGAGCACTCGATGACCTTGGGCTTCCTGCCCCAGATGAGGCAGCGCCCATCCGTGCGGCGGAACAGGTCCTTCTGGTGGTTGGCCACCCGGAAGATGTAGTAGCCCACCAGGCCCAGCAGCAGGACGCCCACGGCGTGCGGGGTGGACAGCTGCACGGGGTGGTACACCAAGTACAGACCCTGGGGGGCGAGGGGGAAGGGGTCAAGCGGTGCTTTGCCCAGGGAGAGGACAGGAGTGTGGGCTCGGGGGCCCAGCGGCCTGGGGTCAAACCCCAGCTCTGCCTCTGACACACGCCTTGCCTCCGTGTTCTCTTCTGTGAATAAAAGCACCAACCTTGAGGGCTGTTGTGGTCATTAAATGAGTAACTCTACCTGCCTTCTACCTGTCTGTGTGTGTATGTGTGTGTGTATATATACCCCCTATATATATGACATATAGCATAAACATCAAATATGTAACAGTATTAAAAATATAATCTGAATTTAATATTGTGATGGTCAATTTAACGTGTCCACTTGGCCAGGCCATTGTTCCCAGATATTTGGTCAAACACTAGTTGTAAAGGCATTTTTCAGATGAGGTTCATATGTTAATCAGTCAACCAGGCAGAGTGGATGACCCTTCACAATGGGGGTGGGCCTCATCCAATCAGTTGACAGCTTTAAGAGACAGAAGACCCACCTTCCCCAAAGAAGAGGGAATCTGCTAAAAAGTGGCCTTCTGGCCATGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTTGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGGCGTGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCTAGCCTGTGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAGTGACCTTCTATTTAAGCACAGCATCAACTCTTCCCTGGGGCTCCAGGCTGCCCTGAAGATCTTGGACTTGTCACTCTTCAATCACATGAGTTGAAAAATACATCTCTTTCTTACACGTATACCCTCCACCCCTCTATTGATTCTGCTTCTTGGGAGAAACCTAATATATAGTATAAAAAATGTACATCTCGAGACACACACAGAGGCTAAAGCAAGTAAGAGCTATTATATAGTGGGACCTATTGCTACGTTTTCACATCCTTGGAAAATGGAGTTTATAAAACCAGGGAACCAGCAGACCTGCAGCCAGCCAGGTGGAGAAATGGGGCCGGGTGGGCCATGCGGGGGGCTCCAAGGACCTGGTGTGAGCATGGGGCCAGCTGGGGCTCTGCACCCTCCACCTGGTACTGGCCCCCTCTGCTGTGGGAATCCTGGTTTTCCAGGACACCCGCACCTCCATCCCACAGGACTGGCTGTCACAGGTGATGCCGGGCCTGTCACATCCTGAATAGGTGACAGCCTCTCCACGTTGGTTCTCTCCACTTGGGCACAGCCTCTTGGGGCAGGCCACCCCACCGTTCTGCTAAGCAAGTGCCCTGGGGTGAGTTATTTCTGTCCCCAGGGGGCTCGTTGCTCTTGAAATGGGCAGGTGGCATCTGGTCAAGCAGCCACCTTACCTGGGAGCCCAGCACTCTCCCCAAATCAGAGCAGGGCTGCTCTCGTTGAGCTGGGAGGGGAGTGGGGGGCTTGATGCCAATGACAAGGCCACTTGCTATCCCCTACTGTCCTGGAACTCCCAGGGCAGCCCTGCCCCAGTGCCCAGCACATCCTAGGAGGCAGGAATGAAGAGGACCCCTCCTGCCAGTGCCCGCACTGACCCACCTCCACCTCCACTGCCCCATCCAGCCCTGAGCCGGCATCTGCCCTACTTTGCAGATGTTAGGGACATACTCAAGGCCACC
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CTTCTCACATCAAGGCAGGAAGATAATAATGACCCTCATCTTTCAAAAGAGGAAGCTGAGACACTGAGAGGGTAGGTCCCCTGAAGGTCATACAGCTCTTAAATGCTGGGGCCAGGATTCCAACGCAGGCAGGGAGGCCCGGATCTGAGCTCACAGTGACCACACCCCAGCCTCTGTGAACTGAATTTACGCAATGTCTGGGAAGAAAAGGCAGGGTCCACTCCGCTCAGAGCCATGCAGGGCAGTGTGCTCCCGTCTCCCCGGCATTTGAATCACTCTTGTGGTGTGTGTCCAGCACAGATGCACGGGACCCCTCAGGCCCATATCCTCAAACAGGTAGTGGTGGGGCACCAGTGCACGAACACTAGGGCTCAGCAGTCAGCCTGGGCGGGTCACAGTTCCGATACCCTCCAGGCTGTCTGGGAGGCGGCCTGGCTGTGGGACCAGTTCTCATGTGAAGCAATGAAGCCACTCTGAGCTTGGCCCCCTGCCCTGGCATGGGCACTGGGCTGCCTGTGTGAAACTCTTGTTTCTCCAGGTGCAAGACAAACCTGGCACTCTTTCTGGCTTCTCCATTCACTTGCCGGGGGCAGGTGGCCAAGCCTGGTTTCATCTCCTTGGGGGGGAATGGAATACTCTCCACATTCAACCCAAAAACAGCCCCAGCAAAGGGCTGACATGGGAGGGAGAGGGGCAGGGTGGCGCCACGCACCCACGGGCACCCAATGCTTTGACGCCGAGACCCAAGCATCTCTCTCAGACATCCCTTCTCATACCAGAAACAGAGCCCACGTATACCAGTCAGACCTGCAGTCAGGCCCATTCACGAGTCAGGCCCATTCACCAGTCAGAAACCACACAGCCACTTATTTGAACAGGGGAAGTTTAATATAAAGATGAACTCTACTCGGAGCATAGAGTTTAAAAAGAGTTCTACACAACACCCTAGGGATGAGGAAGAATGCCTCAGGGAAGAAAGCACAGAAAAGGAGGTGCCCTCCCGAGGCTGGGACTGAGACCTCCTCGCTGGAGAAGGTGTGGGAGGCCCCTGAGGGTGAAGTTCCCCGGGTTGCTCGAGCCAGAGTCTGCACAGTCATAGGGCAAGCAGAAAATTCTTTCGAGAGGGTGGGCGCTCACAGGGAATCGGGAAGCAGAGCCCACCTGCCTACACCTGAAAGGCCACAGCCGGTGCTGGGACCTCTCTGAGGTCTGCAGACTCCAGGCAGAGCACTCCTGGCAGCTGTGCAGCAGGAGCAGGAAGGAAACGACATGAAAGCCCCTTTCTCCCCAGTGTCCCAGTTCAACACCGTGCACGCTACCAAGGAGAAACGGCGCACGGGCCCCACCCACGACTGCAGAGCAGGCAGGGGAGGGGGATCTAGAGCTGAAAGGCAATACATGGATAACGCGCACGCCCCACTCCCACTTTTATTTAGCAAGAGTAAATGCAGCCTAATGACAGGGCGTGGGAAGACCTCCTGCTCACCAGTGTGGGCAGAGTGTAGCGTGGCCTGGGCTCCTAATACAGGTAAATTGTCTCCAAAGGACTAGTAAAGGTGACTGGGTCATCCTCCTGCCCCAGGGACACTGATTAGAGAAAATCCGTCTGTGCTGGCAATACGGCAGTGCTGGACACTCGGAATTCCCTTGAAGGCAAAAGCAAGGAACAGAGCGTGATTAGGTACTGGACACCTGCCAAGTGCTGGGCTCTCTCCAGTTTACAGATGAGGAAACTGAGGCTCCTCGAGTTGGAGCTGGGATGCCAGCCCCCATGGACCTGGCAGAACACGCTCTTGACAGCCCCACAGGGCTTCTCCCTAGGGCGTGCCCTTAGAAGATTCCAGGCAGCAGGCGGTAAGGCACTGCGGCGGTGTAGCGCTCCCAGTCCCGGCCGTACTTGCTGGCGCAGCGGTGCTCGTCCCGGAGGCAGCGGTGGGTCAGCAGGATGGCCATGTAGATGATGTAGAAGTAGGGCAGCAGGTGGCCGCCGCCACAGGCCAGGCAGTAGGCCAGGCTGCCCATCAGGTCGCCGACGTAGTTGAAGTGGCAGGCCACGCCCCAGAAGCCCGACACCAGCAGCTTGCTGTGGTGCCTCTGCCCATCGGCGGATGTGTAGGAGCACTCGATGACCTTGGGCTTCCTGCCCCAGATGAGGCAGCGCCCATCCGTGCGGCGGAACAGGTCCTTCTGGTGGTTGGCCACCCGGAAGATGTAGTAGCCCACCAGGCCCAGCAGCAGGACGCCCACGGCGTGCGGGGTGGACAGCTGCACGGGGTGGTACACCAAGTACAGACCCTGGGGGGCGAGGGGGAAGGGGTCAAGCGGTGCTTTGCCCAGGGAGAGGACAGGAGTGTGGGCTCGGGGGCCCAGCGGCCTGGGGTCAAACCCCAGCTCTGCCTCTGACACACGCCTTGCCTCCGTGTTCTCTTCTGTGAATAAAAGCACCAACCTTGAGGGCTGTTGTGGTCATTAAATGAGTAACTCTACCTGCCTTCTACCTGTCTGTGTGTGTATGTGTGTGTGTATATATACCCCCTATATATATGACATATAGCATAAACATCAAATATGTAACAGTATTAAAAATATAATCTGAATTTAATATTGTGATGGTCAATTTAACGTGTCCACTTGGCCAGGCCATTGTTCCCAGATATTTGGTCAAACACTAGTTGTAAAGGCATTTTTCAGATGAGGTTCATATGTTAATCAGTCAACCAGGCAGAGTGGATGACCCTTCACAATGGGGGTGGGCCTCATCCAATCAGTTGACAGCTTTAAGAGACAGAAGACCCACCTTCCCCAAAGAAGAGGGAATCTGCTAAAAAGTGGCCTTCTGGCCATGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTTGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGGCGTGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCTAGCCTGTGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAGTGACCTTCTATTTAAGCACAGCATCAACTCTTCCCTGGGGCTCCAGGCTGCCCTGAAGATCTTGGACTTGTCACTCTTCAATCACATGAGTTGAAAAATACATCTCTTTCTTACACGTATACCCTCCACCCCTCTATTGATTCTGCTTCTTGGGAGAAACCTAATATATAGTATAAAAAATGTACATCTCGAGACACACACAGAGGCTAAAGCAAGTAAGAGCTATTATATAGTGGGACCTATTGCTACGTTTTCACATCCTTGGAAAATGGAGTTTATAAAACCAGGGAACCAGCAGACCTGCAGCCAGCCAGGTGGAGAAATGGGGCCGGGTGGGCCATGCGGGGGGCTCCAAGGACCTGGTGTGAGCATGGGGCCAGCTGGGGCTCTGCACCCTCCACCTGGTACTGGCCCCCTCTGCTGTGGGAATCCTGGTTTTCCAGGACACCCGCACCTCCATCCCACAGGACTGGCTGTCACAGGTGATGCCGGGCCTGTCACATCCTGAATAGGTGACAGCCTCTCCACGTTGGTTCTCTCCACTTGGGCACAGCCTCTTGGGGCAGGCCACCCCACCGTTCTGCTAAGCAAGTGCCCTGGGGTGAGTTATTTCTGTCCCCAGGGGGCTCGTTGCTCTTGAAATGGGCAGGTGGCATCTGGTCAAGCAGCCACCTTACCTGGGAGCCCAGCACTCTCCCCAAATCAGAGCAGGGCTGCTCTCGTTGAGCTGGGAGGGGAGTGGGGGGCTTGATGCCAATGACAAGGCCACTTGCTATCCCCTACTGTCCTGGAACTCCCAGGGCAGCCCTGCCCCAGTGCCCAGCACATCCTAGGAGGCAGGAATGAAGAGGACCCCTCCTGCCAGTGCCCGCACTGACCCACCTCCACCTCCACTGCCCCATCCAGCCCTGAGCCGGCATCTGCCCTACTTTGCAGATGTTAGGGACATACTCAAGGCCACC
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Task1_train_16242
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This genomic variant is located on Chromosome 11, within the DHCR7 (7-dehydrocholesterol reductase) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Smith-Lemli-Opitz syndrome
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CTTCTCACATCAAGGCAGGAAGATAATAATGACCCTCATCTTTCAAAAGAGGAAGCTGAGACACTGAGAGGGTAGGTCCCCTGAAGGTCATACAGCTCTTAAATGCTGGGGCCAGGATTCCAACGCAGGCAGGGAGGCCCGGATCTGAGCTCACAGTGACCACACCCCAGCCTCTGTGAACTGAATTTACGCAATGTCTGGGAAGAAAAGGCAGGGTCCACTCCGCTCAGAGCCATGCAGGGCAGTGTGCTCCCGTCTCCCCGGCATTTGAATCACTCTTGTGGTGTGTGTCCAGCACAGATGCACGGGACCCCTCAGGCCCATATCCTCAAACAGGTAGTGGTGGGGCACCAGTGCACGAACACTAGGGCTCAGCAGTCAGCCTGGGCGGGTCACAGTTCCGATACCCTCCAGGCTGTCTGGGAGGCGGCCTGGCTGTGGGACCAGTTCTCATGTGAAGCAATGAAGCCACTCTGAGCTTGGCCCCCTGCCCTGGCATGGGCACTGGGCTGCCTGTGTGAAACTCTTGTTTCTCCAGGTGCAAGACAAACCTGGCACTCTTTCTGGCTTCTCCATTCACTTGCCGGGGGCAGGTGGCCAAGCCTGGTTTCATCTCCTTGGGGGGGAATGGAATACTCTCCACATTCAACCCAAAAACAGCCCCAGCAAAGGGCTGACATGGGAGGGAGAGGGGCAGGGTGGCGCCACGCACCCACGGGCACCCAATGCTTTGACGCCGAGACCCAAGCATCTCTCTCAGACATCCCTTCTCATACCAGAAACAGAGCCCACGTATACCAGTCAGACCTGCAGTCAGGCCCATTCACGAGTCAGGCCCATTCACCAGTCAGAAACCACACAGCCACTTATTTGAACAGGGGAAGTTTAATATAAAGATGAACTCTACTCGGAGCATAGAGTTTAAAAAGAGTTCTACACAACACCCTAGGGATGAGGAAGAATGCCTCAGGGAAGAAAGCACAGAAAAGGAGGTGCCCTCCCGAGGCTGGGACTGAGACCTCCTCGCTGGAGAAGGTGTGGGAGGCCCCTGAGGGTGAAGTTCCCCGGGTTGCTCGAGCCAGAGTCTGCACAGTCATAGGGCAAGCAGAAAATTCTTTCGAGAGGGTGGGCGCTCACAGGGAATCGGGAAGCAGAGCCCACCTGCCTACACCTGAAAGGCCACAGCCGGTGCTGGGACCTCTCTGAGGTCTGCAGACTCCAGGCAGAGCACTCCTGGCAGCTGTGCAGCAGGAGCAGGAAGGAAACGACATGAAAGCCCCTTTCTCCCCAGTGTCCCAGTTCAACACCGTGCACGCTACCAAGGAGAAACGGCGCACGGGCCCCACCCACGACTGCAGAGCAGGCAGGGGAGGGGGATCTAGAGCTGAAAGGCAATACATGGATAACGCGCACGCCCCACTCCCACTTTTATTTAGCAAGAGTAAATGCAGCCTAATGACAGGGCGTGGGAAGACCTCCTGCTCACCAGTGTGGGCAGAGTGTAGCGTGGCCTGGGCTCCTAATACAGGTAAATTGTCTCCAAAGGACTAGTAAAGGTGACTGGGTCATCCTCCTGCCCCAGGGACACTGATTAGAGAAAATCCGTCTGTGCTGGCAATACGGCAGTGCTGGACACTCGGAATTCCCTTGAAGGCAAAAGCAAGGAACAGAGCGTGATTAGGTACTGGACACCTGCCAAGTGCTGGGCTCTCTCCAGTTTACAGATGAGGAAACTGAGGCTCCTCGAGTTGGAGCTGGGATGCCAGCCCCCATGGACCTGGCAGAACACGCTCTTGACAGCCCCACAGGGCTTCTCCCTAGGGCGTGCCCTTAGAAGATTCCAGGCAGCAGGCGGTAAGGCACTGCGGCGGTGTAGCGCTCCCAGTCCCGGCCGTACTTGCTGGCGCAGCGGTGCTCGTCCCGGAGGCAGCGGTGGGTCAGCAGGATGGCCATGTAGATGATGTAGAAGTAGGGCAGCAGGTGGCCGCCGCCACAGGCCAGGCAGTAGGCCAGGCTGCCCATCAGGTCGCCGACGTAGTTGAAGTGGCGGGCCACGCCCCAGAAGCCCGACACCAGCAGCTTGCTGTGGTGCCTCTGCCCATCGGCGGATGTGTAGGAGCACTCGATGACCTTGGGCTTCCTGCCCCAGATGAGGCAGCGCCCATCCGTGCGGCGGAACAGGTCCTTCTGGTGGTTGGCCACCCGGAAGATGTAGTAGCCCACCAGGCCCAGCAGCAGGACGCCCACGGCGTGCGGGGTGGACAGCTGCACGGGGTGGTACACCAAGTACAGACCCTGGGGGGCGAGGGGGAAGGGGTCAAGCGGTGCTTTGCCCAGGGAGAGGACAGGAGTGTGGGCTCGGGGGCCCAGCGGCCTGGGGTCAAACCCCAGCTCTGCCTCTGACACACGCCTTGCCTCCGTGTTCTCTTCTGTGAATAAAAGCACCAACCTTGAGGGCTGTTGTGGTCATTAAATGAGTAACTCTACCTGCCTTCTACCTGTCTGTGTGTGTATGTGTGTGTGTATATATACCCCCTATATATATGACATATAGCATAAACATCAAATATGTAACAGTATTAAAAATATAATCTGAATTTAATATTGTGATGGTCAATTTAACGTGTCCACTTGGCCAGGCCATTGTTCCCAGATATTTGGTCAAACACTAGTTGTAAAGGCATTTTTCAGATGAGGTTCATATGTTAATCAGTCAACCAGGCAGAGTGGATGACCCTTCACAATGGGGGTGGGCCTCATCCAATCAGTTGACAGCTTTAAGAGACAGAAGACCCACCTTCCCCAAAGAAGAGGGAATCTGCTAAAAAGTGGCCTTCTGGCCATGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTTGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGGCGTGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCTAGCCTGTGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAGTGACCTTCTATTTAAGCACAGCATCAACTCTTCCCTGGGGCTCCAGGCTGCCCTGAAGATCTTGGACTTGTCACTCTTCAATCACATGAGTTGAAAAATACATCTCTTTCTTACACGTATACCCTCCACCCCTCTATTGATTCTGCTTCTTGGGAGAAACCTAATATATAGTATAAAAAATGTACATCTCGAGACACACACAGAGGCTAAAGCAAGTAAGAGCTATTATATAGTGGGACCTATTGCTACGTTTTCACATCCTTGGAAAATGGAGTTTATAAAACCAGGGAACCAGCAGACCTGCAGCCAGCCAGGTGGAGAAATGGGGCCGGGTGGGCCATGCGGGGGGCTCCAAGGACCTGGTGTGAGCATGGGGCCAGCTGGGGCTCTGCACCCTCCACCTGGTACTGGCCCCCTCTGCTGTGGGAATCCTGGTTTTCCAGGACACCCGCACCTCCATCCCACAGGACTGGCTGTCACAGGTGATGCCGGGCCTGTCACATCCTGAATAGGTGACAGCCTCTCCACGTTGGTTCTCTCCACTTGGGCACAGCCTCTTGGGGCAGGCCACCCCACCGTTCTGCTAAGCAAGTGCCCTGGGGTGAGTTATTTCTGTCCCCAGGGGGCTCGTTGCTCTTGAAATGGGCAGGTGGCATCTGGTCAAGCAGCCACCTTACCTGGGAGCCCAGCACTCTCCCCAAATCAGAGCAGGGCTGCTCTCGTTGAGCTGGGAGGGGAGTGGGGGGCTTGATGCCAATGACAAGGCCACTTGCTATCCCCTACTGTCCTGGAACTCCCAGGGCAGCCCTGCCCCAGTGCCCAGCACATCCTAGGAGGCAGGAATGAAGAGGACCCCTCCTGCCAGTGCCCGCACTGACCCACCTCCACCTCCACTGCCCCATCCAGCCCTGAGCCGGCATCTGCCCTACTTTGCAGATGTTAGGGACATACTCAAGGCCACC
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CTTCTCACATCAAGGCAGGAAGATAATAATGACCCTCATCTTTCAAAAGAGGAAGCTGAGACACTGAGAGGGTAGGTCCCCTGAAGGTCATACAGCTCTTAAATGCTGGGGCCAGGATTCCAACGCAGGCAGGGAGGCCCGGATCTGAGCTCACAGTGACCACACCCCAGCCTCTGTGAACTGAATTTACGCAATGTCTGGGAAGAAAAGGCAGGGTCCACTCCGCTCAGAGCCATGCAGGGCAGTGTGCTCCCGTCTCCCCGGCATTTGAATCACTCTTGTGGTGTGTGTCCAGCACAGATGCACGGGACCCCTCAGGCCCATATCCTCAAACAGGTAGTGGTGGGGCACCAGTGCACGAACACTAGGGCTCAGCAGTCAGCCTGGGCGGGTCACAGTTCCGATACCCTCCAGGCTGTCTGGGAGGCGGCCTGGCTGTGGGACCAGTTCTCATGTGAAGCAATGAAGCCACTCTGAGCTTGGCCCCCTGCCCTGGCATGGGCACTGGGCTGCCTGTGTGAAACTCTTGTTTCTCCAGGTGCAAGACAAACCTGGCACTCTTTCTGGCTTCTCCATTCACTTGCCGGGGGCAGGTGGCCAAGCCTGGTTTCATCTCCTTGGGGGGGAATGGAATACTCTCCACATTCAACCCAAAAACAGCCCCAGCAAAGGGCTGACATGGGAGGGAGAGGGGCAGGGTGGCGCCACGCACCCACGGGCACCCAATGCTTTGACGCCGAGACCCAAGCATCTCTCTCAGACATCCCTTCTCATACCAGAAACAGAGCCCACGTATACCAGTCAGACCTGCAGTCAGGCCCATTCACGAGTCAGGCCCATTCACCAGTCAGAAACCACACAGCCACTTATTTGAACAGGGGAAGTTTAATATAAAGATGAACTCTACTCGGAGCATAGAGTTTAAAAAGAGTTCTACACAACACCCTAGGGATGAGGAAGAATGCCTCAGGGAAGAAAGCACAGAAAAGGAGGTGCCCTCCCGAGGCTGGGACTGAGACCTCCTCGCTGGAGAAGGTGTGGGAGGCCCCTGAGGGTGAAGTTCCCCGGGTTGCTCGAGCCAGAGTCTGCACAGTCATAGGGCAAGCAGAAAATTCTTTCGAGAGGGTGGGCGCTCACAGGGAATCGGGAAGCAGAGCCCACCTGCCTACACCTGAAAGGCCACAGCCGGTGCTGGGACCTCTCTGAGGTCTGCAGACTCCAGGCAGAGCACTCCTGGCAGCTGTGCAGCAGGAGCAGGAAGGAAACGACATGAAAGCCCCTTTCTCCCCAGTGTCCCAGTTCAACACCGTGCACGCTACCAAGGAGAAACGGCGCACGGGCCCCACCCACGACTGCAGAGCAGGCAGGGGAGGGGGATCTAGAGCTGAAAGGCAATACATGGATAACGCGCACGCCCCACTCCCACTTTTATTTAGCAAGAGTAAATGCAGCCTAATGACAGGGCGTGGGAAGACCTCCTGCTCACCAGTGTGGGCAGAGTGTAGCGTGGCCTGGGCTCCTAATACAGGTAAATTGTCTCCAAAGGACTAGTAAAGGTGACTGGGTCATCCTCCTGCCCCAGGGACACTGATTAGAGAAAATCCGTCTGTGCTGGCAATACGGCAGTGCTGGACACTCGGAATTCCCTTGAAGGCAAAAGCAAGGAACAGAGCGTGATTAGGTACTGGACACCTGCCAAGTGCTGGGCTCTCTCCAGTTTACAGATGAGGAAACTGAGGCTCCTCGAGTTGGAGCTGGGATGCCAGCCCCCATGGACCTGGCAGAACACGCTCTTGACAGCCCCACAGGGCTTCTCCCTAGGGCGTGCCCTTAGAAGATTCCAGGCAGCAGGCGGTAAGGCACTGCGGCGGTGTAGCGCTCCCAGTCCCGGCCGTACTTGCTGGCGCAGCGGTGCTCGTCCCGGAGGCAGCGGTGGGTCAGCAGGATGGCCATGTAGATGATGTAGAAGTAGGGCAGCAGGTGGCCGCCGCCACAGGCCAGGCAGTAGGCCAGGCTGCCCATCAGGTCGCCGACGTAGTTGAAGTGGCAGGCCACGCCCCAGAAGCCCGACACCAGCAGCTTGCTGTGGTGCCTCTGCCCATCGGCGGATGTGTAGGAGCACTCGATGACCTTGGGCTTCCTGCCCCAGATGAGGCAGCGCCCATCCGTGCGGCGGAACAGGTCCTTCTGGTGGTTGGCCACCCGGAAGATGTAGTAGCCCACCAGGCCCAGCAGCAGGACGCCCACGGCGTGCGGGGTGGACAGCTGCACGGGGTGGTACACCAAGTACAGACCCTGGGGGGCGAGGGGGAAGGGGTCAAGCGGTGCTTTGCCCAGGGAGAGGACAGGAGTGTGGGCTCGGGGGCCCAGCGGCCTGGGGTCAAACCCCAGCTCTGCCTCTGACACACGCCTTGCCTCCGTGTTCTCTTCTGTGAATAAAAGCACCAACCTTGAGGGCTGTTGTGGTCATTAAATGAGTAACTCTACCTGCCTTCTACCTGTCTGTGTGTGTATGTGTGTGTGTATATATACCCCCTATATATATGACATATAGCATAAACATCAAATATGTAACAGTATTAAAAATATAATCTGAATTTAATATTGTGATGGTCAATTTAACGTGTCCACTTGGCCAGGCCATTGTTCCCAGATATTTGGTCAAACACTAGTTGTAAAGGCATTTTTCAGATGAGGTTCATATGTTAATCAGTCAACCAGGCAGAGTGGATGACCCTTCACAATGGGGGTGGGCCTCATCCAATCAGTTGACAGCTTTAAGAGACAGAAGACCCACCTTCCCCAAAGAAGAGGGAATCTGCTAAAAAGTGGCCTTCTGGCCATGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTTGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGGCGTGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCTAGCCTGTGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAGTGACCTTCTATTTAAGCACAGCATCAACTCTTCCCTGGGGCTCCAGGCTGCCCTGAAGATCTTGGACTTGTCACTCTTCAATCACATGAGTTGAAAAATACATCTCTTTCTTACACGTATACCCTCCACCCCTCTATTGATTCTGCTTCTTGGGAGAAACCTAATATATAGTATAAAAAATGTACATCTCGAGACACACACAGAGGCTAAAGCAAGTAAGAGCTATTATATAGTGGGACCTATTGCTACGTTTTCACATCCTTGGAAAATGGAGTTTATAAAACCAGGGAACCAGCAGACCTGCAGCCAGCCAGGTGGAGAAATGGGGCCGGGTGGGCCATGCGGGGGGCTCCAAGGACCTGGTGTGAGCATGGGGCCAGCTGGGGCTCTGCACCCTCCACCTGGTACTGGCCCCCTCTGCTGTGGGAATCCTGGTTTTCCAGGACACCCGCACCTCCATCCCACAGGACTGGCTGTCACAGGTGATGCCGGGCCTGTCACATCCTGAATAGGTGACAGCCTCTCCACGTTGGTTCTCTCCACTTGGGCACAGCCTCTTGGGGCAGGCCACCCCACCGTTCTGCTAAGCAAGTGCCCTGGGGTGAGTTATTTCTGTCCCCAGGGGGCTCGTTGCTCTTGAAATGGGCAGGTGGCATCTGGTCAAGCAGCCACCTTACCTGGGAGCCCAGCACTCTCCCCAAATCAGAGCAGGGCTGCTCTCGTTGAGCTGGGAGGGGAGTGGGGGGCTTGATGCCAATGACAAGGCCACTTGCTATCCCCTACTGTCCTGGAACTCCCAGGGCAGCCCTGCCCCAGTGCCCAGCACATCCTAGGAGGCAGGAATGAAGAGGACCCCTCCTGCCAGTGCCCGCACTGACCCACCTCCACCTCCACTGCCCCATCCAGCCCTGAGCCGGCATCTGCCCTACTTTGCAGATGTTAGGGACATACTCAAGGCCACC
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Task1_train_16243
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This mutation is located in gene DHCR7 (7-dehydrocholesterol reductase) on Chromosome 11. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; not specified
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GGCAGGGAGGCCCGGATCTGAGCTCACAGTGACCACACCCCAGCCTCTGTGAACTGAATTTACGCAATGTCTGGGAAGAAAAGGCAGGGTCCACTCCGCTCAGAGCCATGCAGGGCAGTGTGCTCCCGTCTCCCCGGCATTTGAATCACTCTTGTGGTGTGTGTCCAGCACAGATGCACGGGACCCCTCAGGCCCATATCCTCAAACAGGTAGTGGTGGGGCACCAGTGCACGAACACTAGGGCTCAGCAGTCAGCCTGGGCGGGTCACAGTTCCGATACCCTCCAGGCTGTCTGGGAGGCGGCCTGGCTGTGGGACCAGTTCTCATGTGAAGCAATGAAGCCACTCTGAGCTTGGCCCCCTGCCCTGGCATGGGCACTGGGCTGCCTGTGTGAAACTCTTGTTTCTCCAGGTGCAAGACAAACCTGGCACTCTTTCTGGCTTCTCCATTCACTTGCCGGGGGCAGGTGGCCAAGCCTGGTTTCATCTCCTTGGGGGGGAATGGAATACTCTCCACATTCAACCCAAAAACAGCCCCAGCAAAGGGCTGACATGGGAGGGAGAGGGGCAGGGTGGCGCCACGCACCCACGGGCACCCAATGCTTTGACGCCGAGACCCAAGCATCTCTCTCAGACATCCCTTCTCATACCAGAAACAGAGCCCACGTATACCAGTCAGACCTGCAGTCAGGCCCATTCACGAGTCAGGCCCATTCACCAGTCAGAAACCACACAGCCACTTATTTGAACAGGGGAAGTTTAATATAAAGATGAACTCTACTCGGAGCATAGAGTTTAAAAAGAGTTCTACACAACACCCTAGGGATGAGGAAGAATGCCTCAGGGAAGAAAGCACAGAAAAGGAGGTGCCCTCCCGAGGCTGGGACTGAGACCTCCTCGCTGGAGAAGGTGTGGGAGGCCCCTGAGGGTGAAGTTCCCCGGGTTGCTCGAGCCAGAGTCTGCACAGTCATAGGGCAAGCAGAAAATTCTTTCGAGAGGGTGGGCGCTCACAGGGAATCGGGAAGCAGAGCCCACCTGCCTACACCTGAAAGGCCACAGCCGGTGCTGGGACCTCTCTGAGGTCTGCAGACTCCAGGCAGAGCACTCCTGGCAGCTGTGCAGCAGGAGCAGGAAGGAAACGACATGAAAGCCCCTTTCTCCCCAGTGTCCCAGTTCAACACCGTGCACGCTACCAAGGAGAAACGGCGCACGGGCCCCACCCACGACTGCAGAGCAGGCAGGGGAGGGGGATCTAGAGCTGAAAGGCAATACATGGATAACGCGCACGCCCCACTCCCACTTTTATTTAGCAAGAGTAAATGCAGCCTAATGACAGGGCGTGGGAAGACCTCCTGCTCACCAGTGTGGGCAGAGTGTAGCGTGGCCTGGGCTCCTAATACAGGTAAATTGTCTCCAAAGGACTAGTAAAGGTGACTGGGTCATCCTCCTGCCCCAGGGACACTGATTAGAGAAAATCCGTCTGTGCTGGCAATACGGCAGTGCTGGACACTCGGAATTCCCTTGAAGGCAAAAGCAAGGAACAGAGCGTGATTAGGTACTGGACACCTGCCAAGTGCTGGGCTCTCTCCAGTTTACAGATGAGGAAACTGAGGCTCCTCGAGTTGGAGCTGGGATGCCAGCCCCCATGGACCTGGCAGAACACGCTCTTGACAGCCCCACAGGGCTTCTCCCTAGGGCGTGCCCTTAGAAGATTCCAGGCAGCAGGCGGTAAGGCACTGCGGCGGTGTAGCGCTCCCAGTCCCGGCCGTACTTGCTGGCGCAGCGGTGCTCGTCCCGGAGGCAGCGGTGGGTCAGCAGGATGGCCATGTAGATGATGTAGAAGTAGGGCAGCAGGTGGCCGCCGCCACAGGCCAGGCAGTAGGCCAGGCTGCCCATCAGGTCGCCGACGTAGTTGAAGTGGCGGGCCACGCCCCAGAAGCCCGACACCAGCAGCTTGCTGTGGTGCCTCTGCCCATCGGCGGATGTGTAGGAGCACTCGATGACCTTGGGCTTCCTGCCCCAGATGAGGCAGCGCCCATCCGTGCGGCGGAACAGGTCCTTCTGGTGGTTGGCCACCCGGAAGATGTAGTAGCCCACCAGGCCCAGCAGCAGGACGCCCACGGCGTGCGGGGTGGACAGCTGCACGGGGTGGTACACCAAGTACAGACCCTGGGGGGCGAGGGGGAAGGGGTCAAGCGGTGCTTTGCCCAGGGAGAGGACAGGAGTGTGGGCTCGGGGGCCCAGCGGCCTGGGGTCAAACCCCAGCTCTGCCTCTGACACACGCCTTGCCTCCGTGTTCTCTTCTGTGAATAAAAGCACCAACCTTGAGGGCTGTTGTGGTCATTAAATGAGTAACTCTACCTGCCTTCTACCTGTCTGTGTGTGTATGTGTGTGTGTATATATACCCCCTATATATATGACATATAGCATAAACATCAAATATGTAACAGTATTAAAAATATAATCTGAATTTAATATTGTGATGGTCAATTTAACGTGTCCACTTGGCCAGGCCATTGTTCCCAGATATTTGGTCAAACACTAGTTGTAAAGGCATTTTTCAGATGAGGTTCATATGTTAATCAGTCAACCAGGCAGAGTGGATGACCCTTCACAATGGGGGTGGGCCTCATCCAATCAGTTGACAGCTTTAAGAGACAGAAGACCCACCTTCCCCAAAGAAGAGGGAATCTGCTAAAAAGTGGCCTTCTGGCCATGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTTGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGGCGTGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCTAGCCTGTGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAGTGACCTTCTATTTAAGCACAGCATCAACTCTTCCCTGGGGCTCCAGGCTGCCCTGAAGATCTTGGACTTGTCACTCTTCAATCACATGAGTTGAAAAATACATCTCTTTCTTACACGTATACCCTCCACCCCTCTATTGATTCTGCTTCTTGGGAGAAACCTAATATATAGTATAAAAAATGTACATCTCGAGACACACACAGAGGCTAAAGCAAGTAAGAGCTATTATATAGTGGGACCTATTGCTACGTTTTCACATCCTTGGAAAATGGAGTTTATAAAACCAGGGAACCAGCAGACCTGCAGCCAGCCAGGTGGAGAAATGGGGCCGGGTGGGCCATGCGGGGGGCTCCAAGGACCTGGTGTGAGCATGGGGCCAGCTGGGGCTCTGCACCCTCCACCTGGTACTGGCCCCCTCTGCTGTGGGAATCCTGGTTTTCCAGGACACCCGCACCTCCATCCCACAGGACTGGCTGTCACAGGTGATGCCGGGCCTGTCACATCCTGAATAGGTGACAGCCTCTCCACGTTGGTTCTCTCCACTTGGGCACAGCCTCTTGGGGCAGGCCACCCCACCGTTCTGCTAAGCAAGTGCCCTGGGGTGAGTTATTTCTGTCCCCAGGGGGCTCGTTGCTCTTGAAATGGGCAGGTGGCATCTGGTCAAGCAGCCACCTTACCTGGGAGCCCAGCACTCTCCCCAAATCAGAGCAGGGCTGCTCTCGTTGAGCTGGGAGGGGAGTGGGGGGCTTGATGCCAATGACAAGGCCACTTGCTATCCCCTACTGTCCTGGAACTCCCAGGGCAGCCCTGCCCCAGTGCCCAGCACATCCTAGGAGGCAGGAATGAAGAGGACCCCTCCTGCCAGTGCCCGCACTGACCCACCTCCACCTCCACTGCCCCATCCAGCCCTGAGCCGGCATCTGCCCTACTTTGCAGATGTTAGGGACATACTCAAGGCCACCTCCCTGGCTGCTGGCCCAAGCTGGCTGAGCTGGCTAATACACGAGGCCTTCCCTTCTTCCTAGAAACAGGGGGCAGCTTTGGTGCCCCCAAGGACAGACGCTTCTGCAAGGAGAAAGCTTAGCATGT
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GGCAGGGAGGCCCGGATCTGAGCTCACAGTGACCACACCCCAGCCTCTGTGAACTGAATTTACGCAATGTCTGGGAAGAAAAGGCAGGGTCCACTCCGCTCAGAGCCATGCAGGGCAGTGTGCTCCCGTCTCCCCGGCATTTGAATCACTCTTGTGGTGTGTGTCCAGCACAGATGCACGGGACCCCTCAGGCCCATATCCTCAAACAGGTAGTGGTGGGGCACCAGTGCACGAACACTAGGGCTCAGCAGTCAGCCTGGGCGGGTCACAGTTCCGATACCCTCCAGGCTGTCTGGGAGGCGGCCTGGCTGTGGGACCAGTTCTCATGTGAAGCAATGAAGCCACTCTGAGCTTGGCCCCCTGCCCTGGCATGGGCACTGGGCTGCCTGTGTGAAACTCTTGTTTCTCCAGGTGCAAGACAAACCTGGCACTCTTTCTGGCTTCTCCATTCACTTGCCGGGGGCAGGTGGCCAAGCCTGGTTTCATCTCCTTGGGGGGGAATGGAATACTCTCCACATTCAACCCAAAAACAGCCCCAGCAAAGGGCTGACATGGGAGGGAGAGGGGCAGGGTGGCGCCACGCACCCACGGGCACCCAATGCTTTGACGCCGAGACCCAAGCATCTCTCTCAGACATCCCTTCTCATACCAGAAACAGAGCCCACGTATACCAGTCAGACCTGCAGTCAGGCCCATTCACGAGTCAGGCCCATTCACCAGTCAGAAACCACACAGCCACTTATTTGAACAGGGGAAGTTTAATATAAAGATGAACTCTACTCGGAGCATAGAGTTTAAAAAGAGTTCTACACAACACCCTAGGGATGAGGAAGAATGCCTCAGGGAAGAAAGCACAGAAAAGGAGGTGCCCTCCCGAGGCTGGGACTGAGACCTCCTCGCTGGAGAAGGTGTGGGAGGCCCCTGAGGGTGAAGTTCCCCGGGTTGCTCGAGCCAGAGTCTGCACAGTCATAGGGCAAGCAGAAAATTCTTTCGAGAGGGTGGGCGCTCACAGGGAATCGGGAAGCAGAGCCCACCTGCCTACACCTGAAAGGCCACAGCCGGTGCTGGGACCTCTCTGAGGTCTGCAGACTCCAGGCAGAGCACTCCTGGCAGCTGTGCAGCAGGAGCAGGAAGGAAACGACATGAAAGCCCCTTTCTCCCCAGTGTCCCAGTTCAACACCGTGCACGCTACCAAGGAGAAACGGCGCACGGGCCCCACCCACGACTGCAGAGCAGGCAGGGGAGGGGGATCTAGAGCTGAAAGGCAATACATGGATAACGCGCACGCCCCACTCCCACTTTTATTTAGCAAGAGTAAATGCAGCCTAATGACAGGGCGTGGGAAGACCTCCTGCTCACCAGTGTGGGCAGAGTGTAGCGTGGCCTGGGCTCCTAATACAGGTAAATTGTCTCCAAAGGACTAGTAAAGGTGACTGGGTCATCCTCCTGCCCCAGGGACACTGATTAGAGAAAATCCGTCTGTGCTGGCAATACGGCAGTGCTGGACACTCGGAATTCCCTTGAAGGCAAAAGCAAGGAACAGAGCGTGATTAGGTACTGGACACCTGCCAAGTGCTGGGCTCTCTCCAGTTTACAGATGAGGAAACTGAGGCTCCTCGAGTTGGAGCTGGGATGCCAGCCCCCATGGACCTGGCAGAACACGCTCTTGACAGCCCCACAGGGCTTCTCCCTAGGGCGTGCCCTTAGAAGATTCCAGGCAGCAGGCGGTAAGGCACTGCGGCGGTGTAGCGCTCCCAGTCCCGGCCGTACTTGCTGGCGCAGCGGTGCTCGTCCCGGAGGCAGCGGTGGGTCAGCAGGATGGCCATGTAGATGATGTAGAAGTAGGGCAGCAGGTGGCCGCCGCCACAGGCCAGGCAGTAGGCCAGGCTGCCCATCAGGTCGCCGACGTAGTTGAAGTGGCGGGCCACGCCCCAGAAGCCCGACACCAGCAGCTTGCTGTGGTGCCTCTGCCCATCGGCGGATGTGTAGGAGCACTCGATGACCTTGGGCTTCCTGCCCCAGATGAGGCAGCGCCCATCCGTGCGGCGCAACAGGTCCTTCTGGTGGTTGGCCACCCGGAAGATGTAGTAGCCCACCAGGCCCAGCAGCAGGACGCCCACGGCGTGCGGGGTGGACAGCTGCACGGGGTGGTACACCAAGTACAGACCCTGGGGGGCGAGGGGGAAGGGGTCAAGCGGTGCTTTGCCCAGGGAGAGGACAGGAGTGTGGGCTCGGGGGCCCAGCGGCCTGGGGTCAAACCCCAGCTCTGCCTCTGACACACGCCTTGCCTCCGTGTTCTCTTCTGTGAATAAAAGCACCAACCTTGAGGGCTGTTGTGGTCATTAAATGAGTAACTCTACCTGCCTTCTACCTGTCTGTGTGTGTATGTGTGTGTGTATATATACCCCCTATATATATGACATATAGCATAAACATCAAATATGTAACAGTATTAAAAATATAATCTGAATTTAATATTGTGATGGTCAATTTAACGTGTCCACTTGGCCAGGCCATTGTTCCCAGATATTTGGTCAAACACTAGTTGTAAAGGCATTTTTCAGATGAGGTTCATATGTTAATCAGTCAACCAGGCAGAGTGGATGACCCTTCACAATGGGGGTGGGCCTCATCCAATCAGTTGACAGCTTTAAGAGACAGAAGACCCACCTTCCCCAAAGAAGAGGGAATCTGCTAAAAAGTGGCCTTCTGGCCATGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTTGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGGCGTGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCTAGCCTGTGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAGTGACCTTCTATTTAAGCACAGCATCAACTCTTCCCTGGGGCTCCAGGCTGCCCTGAAGATCTTGGACTTGTCACTCTTCAATCACATGAGTTGAAAAATACATCTCTTTCTTACACGTATACCCTCCACCCCTCTATTGATTCTGCTTCTTGGGAGAAACCTAATATATAGTATAAAAAATGTACATCTCGAGACACACACAGAGGCTAAAGCAAGTAAGAGCTATTATATAGTGGGACCTATTGCTACGTTTTCACATCCTTGGAAAATGGAGTTTATAAAACCAGGGAACCAGCAGACCTGCAGCCAGCCAGGTGGAGAAATGGGGCCGGGTGGGCCATGCGGGGGGCTCCAAGGACCTGGTGTGAGCATGGGGCCAGCTGGGGCTCTGCACCCTCCACCTGGTACTGGCCCCCTCTGCTGTGGGAATCCTGGTTTTCCAGGACACCCGCACCTCCATCCCACAGGACTGGCTGTCACAGGTGATGCCGGGCCTGTCACATCCTGAATAGGTGACAGCCTCTCCACGTTGGTTCTCTCCACTTGGGCACAGCCTCTTGGGGCAGGCCACCCCACCGTTCTGCTAAGCAAGTGCCCTGGGGTGAGTTATTTCTGTCCCCAGGGGGCTCGTTGCTCTTGAAATGGGCAGGTGGCATCTGGTCAAGCAGCCACCTTACCTGGGAGCCCAGCACTCTCCCCAAATCAGAGCAGGGCTGCTCTCGTTGAGCTGGGAGGGGAGTGGGGGGCTTGATGCCAATGACAAGGCCACTTGCTATCCCCTACTGTCCTGGAACTCCCAGGGCAGCCCTGCCCCAGTGCCCAGCACATCCTAGGAGGCAGGAATGAAGAGGACCCCTCCTGCCAGTGCCCGCACTGACCCACCTCCACCTCCACTGCCCCATCCAGCCCTGAGCCGGCATCTGCCCTACTTTGCAGATGTTAGGGACATACTCAAGGCCACCTCCCTGGCTGCTGGCCCAAGCTGGCTGAGCTGGCTAATACACGAGGCCTTCCCTTCTTCCTAGAAACAGGGGGCAGCTTTGGTGCCCCCAAGGACAGACGCTTCTGCAAGGAGAAAGCTTAGCATGT
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Task1_train_16244
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A mutation on Chromosome 11 affecting DHCR7 (7-dehydrocholesterol reductase) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Smith-Lemli-Opitz syndrome
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GGCAGGGAGGCCCGGATCTGAGCTCACAGTGACCACACCCCAGCCTCTGTGAACTGAATTTACGCAATGTCTGGGAAGAAAAGGCAGGGTCCACTCCGCTCAGAGCCATGCAGGGCAGTGTGCTCCCGTCTCCCCGGCATTTGAATCACTCTTGTGGTGTGTGTCCAGCACAGATGCACGGGACCCCTCAGGCCCATATCCTCAAACAGGTAGTGGTGGGGCACCAGTGCACGAACACTAGGGCTCAGCAGTCAGCCTGGGCGGGTCACAGTTCCGATACCCTCCAGGCTGTCTGGGAGGCGGCCTGGCTGTGGGACCAGTTCTCATGTGAAGCAATGAAGCCACTCTGAGCTTGGCCCCCTGCCCTGGCATGGGCACTGGGCTGCCTGTGTGAAACTCTTGTTTCTCCAGGTGCAAGACAAACCTGGCACTCTTTCTGGCTTCTCCATTCACTTGCCGGGGGCAGGTGGCCAAGCCTGGTTTCATCTCCTTGGGGGGGAATGGAATACTCTCCACATTCAACCCAAAAACAGCCCCAGCAAAGGGCTGACATGGGAGGGAGAGGGGCAGGGTGGCGCCACGCACCCACGGGCACCCAATGCTTTGACGCCGAGACCCAAGCATCTCTCTCAGACATCCCTTCTCATACCAGAAACAGAGCCCACGTATACCAGTCAGACCTGCAGTCAGGCCCATTCACGAGTCAGGCCCATTCACCAGTCAGAAACCACACAGCCACTTATTTGAACAGGGGAAGTTTAATATAAAGATGAACTCTACTCGGAGCATAGAGTTTAAAAAGAGTTCTACACAACACCCTAGGGATGAGGAAGAATGCCTCAGGGAAGAAAGCACAGAAAAGGAGGTGCCCTCCCGAGGCTGGGACTGAGACCTCCTCGCTGGAGAAGGTGTGGGAGGCCCCTGAGGGTGAAGTTCCCCGGGTTGCTCGAGCCAGAGTCTGCACAGTCATAGGGCAAGCAGAAAATTCTTTCGAGAGGGTGGGCGCTCACAGGGAATCGGGAAGCAGAGCCCACCTGCCTACACCTGAAAGGCCACAGCCGGTGCTGGGACCTCTCTGAGGTCTGCAGACTCCAGGCAGAGCACTCCTGGCAGCTGTGCAGCAGGAGCAGGAAGGAAACGACATGAAAGCCCCTTTCTCCCCAGTGTCCCAGTTCAACACCGTGCACGCTACCAAGGAGAAACGGCGCACGGGCCCCACCCACGACTGCAGAGCAGGCAGGGGAGGGGGATCTAGAGCTGAAAGGCAATACATGGATAACGCGCACGCCCCACTCCCACTTTTATTTAGCAAGAGTAAATGCAGCCTAATGACAGGGCGTGGGAAGACCTCCTGCTCACCAGTGTGGGCAGAGTGTAGCGTGGCCTGGGCTCCTAATACAGGTAAATTGTCTCCAAAGGACTAGTAAAGGTGACTGGGTCATCCTCCTGCCCCAGGGACACTGATTAGAGAAAATCCGTCTGTGCTGGCAATACGGCAGTGCTGGACACTCGGAATTCCCTTGAAGGCAAAAGCAAGGAACAGAGCGTGATTAGGTACTGGACACCTGCCAAGTGCTGGGCTCTCTCCAGTTTACAGATGAGGAAACTGAGGCTCCTCGAGTTGGAGCTGGGATGCCAGCCCCCATGGACCTGGCAGAACACGCTCTTGACAGCCCCACAGGGCTTCTCCCTAGGGCGTGCCCTTAGAAGATTCCAGGCAGCAGGCGGTAAGGCACTGCGGCGGTGTAGCGCTCCCAGTCCCGGCCGTACTTGCTGGCGCAGCGGTGCTCGTCCCGGAGGCAGCGGTGGGTCAGCAGGATGGCCATGTAGATGATGTAGAAGTAGGGCAGCAGGTGGCCGCCGCCACAGGCCAGGCAGTAGGCCAGGCTGCCCATCAGGTCGCCGACGTAGTTGAAGTGGCGGGCCACGCCCCAGAAGCCCGACACCAGCAGCTTGCTGTGGTGCCTCTGCCCATCGGCGGATGTGTAGGAGCACTCGATGACCTTGGGCTTCCTGCCCCAGATGAGGCAGCGCCCATCCGTGCGGCGGAACAGGTCCTTCTGGTGGTTGGCCACCCGGAAGATGTAGTAGCCCACCAGGCCCAGCAGCAGGACGCCCACGGCGTGCGGGGTGGACAGCTGCACGGGGTGGTACACCAAGTACAGACCCTGGGGGGCGAGGGGGAAGGGGTCAAGCGGTGCTTTGCCCAGGGAGAGGACAGGAGTGTGGGCTCGGGGGCCCAGCGGCCTGGGGTCAAACCCCAGCTCTGCCTCTGACACACGCCTTGCCTCCGTGTTCTCTTCTGTGAATAAAAGCACCAACCTTGAGGGCTGTTGTGGTCATTAAATGAGTAACTCTACCTGCCTTCTACCTGTCTGTGTGTGTATGTGTGTGTGTATATATACCCCCTATATATATGACATATAGCATAAACATCAAATATGTAACAGTATTAAAAATATAATCTGAATTTAATATTGTGATGGTCAATTTAACGTGTCCACTTGGCCAGGCCATTGTTCCCAGATATTTGGTCAAACACTAGTTGTAAAGGCATTTTTCAGATGAGGTTCATATGTTAATCAGTCAACCAGGCAGAGTGGATGACCCTTCACAATGGGGGTGGGCCTCATCCAATCAGTTGACAGCTTTAAGAGACAGAAGACCCACCTTCCCCAAAGAAGAGGGAATCTGCTAAAAAGTGGCCTTCTGGCCATGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTTGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGGCGTGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCTAGCCTGTGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAGTGACCTTCTATTTAAGCACAGCATCAACTCTTCCCTGGGGCTCCAGGCTGCCCTGAAGATCTTGGACTTGTCACTCTTCAATCACATGAGTTGAAAAATACATCTCTTTCTTACACGTATACCCTCCACCCCTCTATTGATTCTGCTTCTTGGGAGAAACCTAATATATAGTATAAAAAATGTACATCTCGAGACACACACAGAGGCTAAAGCAAGTAAGAGCTATTATATAGTGGGACCTATTGCTACGTTTTCACATCCTTGGAAAATGGAGTTTATAAAACCAGGGAACCAGCAGACCTGCAGCCAGCCAGGTGGAGAAATGGGGCCGGGTGGGCCATGCGGGGGGCTCCAAGGACCTGGTGTGAGCATGGGGCCAGCTGGGGCTCTGCACCCTCCACCTGGTACTGGCCCCCTCTGCTGTGGGAATCCTGGTTTTCCAGGACACCCGCACCTCCATCCCACAGGACTGGCTGTCACAGGTGATGCCGGGCCTGTCACATCCTGAATAGGTGACAGCCTCTCCACGTTGGTTCTCTCCACTTGGGCACAGCCTCTTGGGGCAGGCCACCCCACCGTTCTGCTAAGCAAGTGCCCTGGGGTGAGTTATTTCTGTCCCCAGGGGGCTCGTTGCTCTTGAAATGGGCAGGTGGCATCTGGTCAAGCAGCCACCTTACCTGGGAGCCCAGCACTCTCCCCAAATCAGAGCAGGGCTGCTCTCGTTGAGCTGGGAGGGGAGTGGGGGGCTTGATGCCAATGACAAGGCCACTTGCTATCCCCTACTGTCCTGGAACTCCCAGGGCAGCCCTGCCCCAGTGCCCAGCACATCCTAGGAGGCAGGAATGAAGAGGACCCCTCCTGCCAGTGCCCGCACTGACCCACCTCCACCTCCACTGCCCCATCCAGCCCTGAGCCGGCATCTGCCCTACTTTGCAGATGTTAGGGACATACTCAAGGCCACCTCCCTGGCTGCTGGCCCAAGCTGGCTGAGCTGGCTAATACACGAGGCCTTCCCTTCTTCCTAGAAACAGGGGGCAGCTTTGGTGCCCCCAAGGACAGACGCTTCTGCAAGGAGAAAGCTTAGCATGT
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GGCAGGGAGGCCCGGATCTGAGCTCACAGTGACCACACCCCAGCCTCTGTGAACTGAATTTACGCAATGTCTGGGAAGAAAAGGCAGGGTCCACTCCGCTCAGAGCCATGCAGGGCAGTGTGCTCCCGTCTCCCCGGCATTTGAATCACTCTTGTGGTGTGTGTCCAGCACAGATGCACGGGACCCCTCAGGCCCATATCCTCAAACAGGTAGTGGTGGGGCACCAGTGCACGAACACTAGGGCTCAGCAGTCAGCCTGGGCGGGTCACAGTTCCGATACCCTCCAGGCTGTCTGGGAGGCGGCCTGGCTGTGGGACCAGTTCTCATGTGAAGCAATGAAGCCACTCTGAGCTTGGCCCCCTGCCCTGGCATGGGCACTGGGCTGCCTGTGTGAAACTCTTGTTTCTCCAGGTGCAAGACAAACCTGGCACTCTTTCTGGCTTCTCCATTCACTTGCCGGGGGCAGGTGGCCAAGCCTGGTTTCATCTCCTTGGGGGGGAATGGAATACTCTCCACATTCAACCCAAAAACAGCCCCAGCAAAGGGCTGACATGGGAGGGAGAGGGGCAGGGTGGCGCCACGCACCCACGGGCACCCAATGCTTTGACGCCGAGACCCAAGCATCTCTCTCAGACATCCCTTCTCATACCAGAAACAGAGCCCACGTATACCAGTCAGACCTGCAGTCAGGCCCATTCACGAGTCAGGCCCATTCACCAGTCAGAAACCACACAGCCACTTATTTGAACAGGGGAAGTTTAATATAAAGATGAACTCTACTCGGAGCATAGAGTTTAAAAAGAGTTCTACACAACACCCTAGGGATGAGGAAGAATGCCTCAGGGAAGAAAGCACAGAAAAGGAGGTGCCCTCCCGAGGCTGGGACTGAGACCTCCTCGCTGGAGAAGGTGTGGGAGGCCCCTGAGGGTGAAGTTCCCCGGGTTGCTCGAGCCAGAGTCTGCACAGTCATAGGGCAAGCAGAAAATTCTTTCGAGAGGGTGGGCGCTCACAGGGAATCGGGAAGCAGAGCCCACCTGCCTACACCTGAAAGGCCACAGCCGGTGCTGGGACCTCTCTGAGGTCTGCAGACTCCAGGCAGAGCACTCCTGGCAGCTGTGCAGCAGGAGCAGGAAGGAAACGACATGAAAGCCCCTTTCTCCCCAGTGTCCCAGTTCAACACCGTGCACGCTACCAAGGAGAAACGGCGCACGGGCCCCACCCACGACTGCAGAGCAGGCAGGGGAGGGGGATCTAGAGCTGAAAGGCAATACATGGATAACGCGCACGCCCCACTCCCACTTTTATTTAGCAAGAGTAAATGCAGCCTAATGACAGGGCGTGGGAAGACCTCCTGCTCACCAGTGTGGGCAGAGTGTAGCGTGGCCTGGGCTCCTAATACAGGTAAATTGTCTCCAAAGGACTAGTAAAGGTGACTGGGTCATCCTCCTGCCCCAGGGACACTGATTAGAGAAAATCCGTCTGTGCTGGCAATACGGCAGTGCTGGACACTCGGAATTCCCTTGAAGGCAAAAGCAAGGAACAGAGCGTGATTAGGTACTGGACACCTGCCAAGTGCTGGGCTCTCTCCAGTTTACAGATGAGGAAACTGAGGCTCCTCGAGTTGGAGCTGGGATGCCAGCCCCCATGGACCTGGCAGAACACGCTCTTGACAGCCCCACAGGGCTTCTCCCTAGGGCGTGCCCTTAGAAGATTCCAGGCAGCAGGCGGTAAGGCACTGCGGCGGTGTAGCGCTCCCAGTCCCGGCCGTACTTGCTGGCGCAGCGGTGCTCGTCCCGGAGGCAGCGGTGGGTCAGCAGGATGGCCATGTAGATGATGTAGAAGTAGGGCAGCAGGTGGCCGCCGCCACAGGCCAGGCAGTAGGCCAGGCTGCCCATCAGGTCGCCGACGTAGTTGAAGTGGCGGGCCACGCCCCAGAAGCCCGACACCAGCAGCTTGCTGTGGTGCCTCTGCCCATCGGCGGATGTGTAGGAGCACTCGATGACCTTGGGCTTCCTGCCCCAGATGAGGCAGCGCCCATCCGTGCGGCGCAACAGGTCCTTCTGGTGGTTGGCCACCCGGAAGATGTAGTAGCCCACCAGGCCCAGCAGCAGGACGCCCACGGCGTGCGGGGTGGACAGCTGCACGGGGTGGTACACCAAGTACAGACCCTGGGGGGCGAGGGGGAAGGGGTCAAGCGGTGCTTTGCCCAGGGAGAGGACAGGAGTGTGGGCTCGGGGGCCCAGCGGCCTGGGGTCAAACCCCAGCTCTGCCTCTGACACACGCCTTGCCTCCGTGTTCTCTTCTGTGAATAAAAGCACCAACCTTGAGGGCTGTTGTGGTCATTAAATGAGTAACTCTACCTGCCTTCTACCTGTCTGTGTGTGTATGTGTGTGTGTATATATACCCCCTATATATATGACATATAGCATAAACATCAAATATGTAACAGTATTAAAAATATAATCTGAATTTAATATTGTGATGGTCAATTTAACGTGTCCACTTGGCCAGGCCATTGTTCCCAGATATTTGGTCAAACACTAGTTGTAAAGGCATTTTTCAGATGAGGTTCATATGTTAATCAGTCAACCAGGCAGAGTGGATGACCCTTCACAATGGGGGTGGGCCTCATCCAATCAGTTGACAGCTTTAAGAGACAGAAGACCCACCTTCCCCAAAGAAGAGGGAATCTGCTAAAAAGTGGCCTTCTGGCCATGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTTGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGGCGTGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCTAGCCTGTGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAGTGACCTTCTATTTAAGCACAGCATCAACTCTTCCCTGGGGCTCCAGGCTGCCCTGAAGATCTTGGACTTGTCACTCTTCAATCACATGAGTTGAAAAATACATCTCTTTCTTACACGTATACCCTCCACCCCTCTATTGATTCTGCTTCTTGGGAGAAACCTAATATATAGTATAAAAAATGTACATCTCGAGACACACACAGAGGCTAAAGCAAGTAAGAGCTATTATATAGTGGGACCTATTGCTACGTTTTCACATCCTTGGAAAATGGAGTTTATAAAACCAGGGAACCAGCAGACCTGCAGCCAGCCAGGTGGAGAAATGGGGCCGGGTGGGCCATGCGGGGGGCTCCAAGGACCTGGTGTGAGCATGGGGCCAGCTGGGGCTCTGCACCCTCCACCTGGTACTGGCCCCCTCTGCTGTGGGAATCCTGGTTTTCCAGGACACCCGCACCTCCATCCCACAGGACTGGCTGTCACAGGTGATGCCGGGCCTGTCACATCCTGAATAGGTGACAGCCTCTCCACGTTGGTTCTCTCCACTTGGGCACAGCCTCTTGGGGCAGGCCACCCCACCGTTCTGCTAAGCAAGTGCCCTGGGGTGAGTTATTTCTGTCCCCAGGGGGCTCGTTGCTCTTGAAATGGGCAGGTGGCATCTGGTCAAGCAGCCACCTTACCTGGGAGCCCAGCACTCTCCCCAAATCAGAGCAGGGCTGCTCTCGTTGAGCTGGGAGGGGAGTGGGGGGCTTGATGCCAATGACAAGGCCACTTGCTATCCCCTACTGTCCTGGAACTCCCAGGGCAGCCCTGCCCCAGTGCCCAGCACATCCTAGGAGGCAGGAATGAAGAGGACCCCTCCTGCCAGTGCCCGCACTGACCCACCTCCACCTCCACTGCCCCATCCAGCCCTGAGCCGGCATCTGCCCTACTTTGCAGATGTTAGGGACATACTCAAGGCCACCTCCCTGGCTGCTGGCCCAAGCTGGCTGAGCTGGCTAATACACGAGGCCTTCCCTTCTTCCTAGAAACAGGGGGCAGCTTTGGTGCCCCCAAGGACAGACGCTTCTGCAAGGAGAAAGCTTAGCATGT
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Task1_train_16245
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Here is a mutation in DHCR7 (7-dehydrocholesterol reductase) on Chromosome 11. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Smith-Lemli-Opitz syndrome
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GTGACCACACCCCAGCCTCTGTGAACTGAATTTACGCAATGTCTGGGAAGAAAAGGCAGGGTCCACTCCGCTCAGAGCCATGCAGGGCAGTGTGCTCCCGTCTCCCCGGCATTTGAATCACTCTTGTGGTGTGTGTCCAGCACAGATGCACGGGACCCCTCAGGCCCATATCCTCAAACAGGTAGTGGTGGGGCACCAGTGCACGAACACTAGGGCTCAGCAGTCAGCCTGGGCGGGTCACAGTTCCGATACCCTCCAGGCTGTCTGGGAGGCGGCCTGGCTGTGGGACCAGTTCTCATGTGAAGCAATGAAGCCACTCTGAGCTTGGCCCCCTGCCCTGGCATGGGCACTGGGCTGCCTGTGTGAAACTCTTGTTTCTCCAGGTGCAAGACAAACCTGGCACTCTTTCTGGCTTCTCCATTCACTTGCCGGGGGCAGGTGGCCAAGCCTGGTTTCATCTCCTTGGGGGGGAATGGAATACTCTCCACATTCAACCCAAAAACAGCCCCAGCAAAGGGCTGACATGGGAGGGAGAGGGGCAGGGTGGCGCCACGCACCCACGGGCACCCAATGCTTTGACGCCGAGACCCAAGCATCTCTCTCAGACATCCCTTCTCATACCAGAAACAGAGCCCACGTATACCAGTCAGACCTGCAGTCAGGCCCATTCACGAGTCAGGCCCATTCACCAGTCAGAAACCACACAGCCACTTATTTGAACAGGGGAAGTTTAATATAAAGATGAACTCTACTCGGAGCATAGAGTTTAAAAAGAGTTCTACACAACACCCTAGGGATGAGGAAGAATGCCTCAGGGAAGAAAGCACAGAAAAGGAGGTGCCCTCCCGAGGCTGGGACTGAGACCTCCTCGCTGGAGAAGGTGTGGGAGGCCCCTGAGGGTGAAGTTCCCCGGGTTGCTCGAGCCAGAGTCTGCACAGTCATAGGGCAAGCAGAAAATTCTTTCGAGAGGGTGGGCGCTCACAGGGAATCGGGAAGCAGAGCCCACCTGCCTACACCTGAAAGGCCACAGCCGGTGCTGGGACCTCTCTGAGGTCTGCAGACTCCAGGCAGAGCACTCCTGGCAGCTGTGCAGCAGGAGCAGGAAGGAAACGACATGAAAGCCCCTTTCTCCCCAGTGTCCCAGTTCAACACCGTGCACGCTACCAAGGAGAAACGGCGCACGGGCCCCACCCACGACTGCAGAGCAGGCAGGGGAGGGGGATCTAGAGCTGAAAGGCAATACATGGATAACGCGCACGCCCCACTCCCACTTTTATTTAGCAAGAGTAAATGCAGCCTAATGACAGGGCGTGGGAAGACCTCCTGCTCACCAGTGTGGGCAGAGTGTAGCGTGGCCTGGGCTCCTAATACAGGTAAATTGTCTCCAAAGGACTAGTAAAGGTGACTGGGTCATCCTCCTGCCCCAGGGACACTGATTAGAGAAAATCCGTCTGTGCTGGCAATACGGCAGTGCTGGACACTCGGAATTCCCTTGAAGGCAAAAGCAAGGAACAGAGCGTGATTAGGTACTGGACACCTGCCAAGTGCTGGGCTCTCTCCAGTTTACAGATGAGGAAACTGAGGCTCCTCGAGTTGGAGCTGGGATGCCAGCCCCCATGGACCTGGCAGAACACGCTCTTGACAGCCCCACAGGGCTTCTCCCTAGGGCGTGCCCTTAGAAGATTCCAGGCAGCAGGCGGTAAGGCACTGCGGCGGTGTAGCGCTCCCAGTCCCGGCCGTACTTGCTGGCGCAGCGGTGCTCGTCCCGGAGGCAGCGGTGGGTCAGCAGGATGGCCATGTAGATGATGTAGAAGTAGGGCAGCAGGTGGCCGCCGCCACAGGCCAGGCAGTAGGCCAGGCTGCCCATCAGGTCGCCGACGTAGTTGAAGTGGCGGGCCACGCCCCAGAAGCCCGACACCAGCAGCTTGCTGTGGTGCCTCTGCCCATCGGCGGATGTGTAGGAGCACTCGATGACCTTGGGCTTCCTGCCCCAGATGAGGCAGCGCCCATCCGTGCGGCGGAACAGGTCCTTCTGGTGGTTGGCCACCCGGAAGATGTAGTAGCCCACCAGGCCCAGCAGCAGGACGCCCACGGCGTGCGGGGTGGACAGCTGCACGGGGTGGTACACCAAGTACAGACCCTGGGGGGCGAGGGGGAAGGGGTCAAGCGGTGCTTTGCCCAGGGAGAGGACAGGAGTGTGGGCTCGGGGGCCCAGCGGCCTGGGGTCAAACCCCAGCTCTGCCTCTGACACACGCCTTGCCTCCGTGTTCTCTTCTGTGAATAAAAGCACCAACCTTGAGGGCTGTTGTGGTCATTAAATGAGTAACTCTACCTGCCTTCTACCTGTCTGTGTGTGTATGTGTGTGTGTATATATACCCCCTATATATATGACATATAGCATAAACATCAAATATGTAACAGTATTAAAAATATAATCTGAATTTAATATTGTGATGGTCAATTTAACGTGTCCACTTGGCCAGGCCATTGTTCCCAGATATTTGGTCAAACACTAGTTGTAAAGGCATTTTTCAGATGAGGTTCATATGTTAATCAGTCAACCAGGCAGAGTGGATGACCCTTCACAATGGGGGTGGGCCTCATCCAATCAGTTGACAGCTTTAAGAGACAGAAGACCCACCTTCCCCAAAGAAGAGGGAATCTGCTAAAAAGTGGCCTTCTGGCCATGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTTGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGGCGTGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCTAGCCTGTGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAGTGACCTTCTATTTAAGCACAGCATCAACTCTTCCCTGGGGCTCCAGGCTGCCCTGAAGATCTTGGACTTGTCACTCTTCAATCACATGAGTTGAAAAATACATCTCTTTCTTACACGTATACCCTCCACCCCTCTATTGATTCTGCTTCTTGGGAGAAACCTAATATATAGTATAAAAAATGTACATCTCGAGACACACACAGAGGCTAAAGCAAGTAAGAGCTATTATATAGTGGGACCTATTGCTACGTTTTCACATCCTTGGAAAATGGAGTTTATAAAACCAGGGAACCAGCAGACCTGCAGCCAGCCAGGTGGAGAAATGGGGCCGGGTGGGCCATGCGGGGGGCTCCAAGGACCTGGTGTGAGCATGGGGCCAGCTGGGGCTCTGCACCCTCCACCTGGTACTGGCCCCCTCTGCTGTGGGAATCCTGGTTTTCCAGGACACCCGCACCTCCATCCCACAGGACTGGCTGTCACAGGTGATGCCGGGCCTGTCACATCCTGAATAGGTGACAGCCTCTCCACGTTGGTTCTCTCCACTTGGGCACAGCCTCTTGGGGCAGGCCACCCCACCGTTCTGCTAAGCAAGTGCCCTGGGGTGAGTTATTTCTGTCCCCAGGGGGCTCGTTGCTCTTGAAATGGGCAGGTGGCATCTGGTCAAGCAGCCACCTTACCTGGGAGCCCAGCACTCTCCCCAAATCAGAGCAGGGCTGCTCTCGTTGAGCTGGGAGGGGAGTGGGGGGCTTGATGCCAATGACAAGGCCACTTGCTATCCCCTACTGTCCTGGAACTCCCAGGGCAGCCCTGCCCCAGTGCCCAGCACATCCTAGGAGGCAGGAATGAAGAGGACCCCTCCTGCCAGTGCCCGCACTGACCCACCTCCACCTCCACTGCCCCATCCAGCCCTGAGCCGGCATCTGCCCTACTTTGCAGATGTTAGGGACATACTCAAGGCCACCTCCCTGGCTGCTGGCCCAAGCTGGCTGAGCTGGCTAATACACGAGGCCTTCCCTTCTTCCTAGAAACAGGGGGCAGCTTTGGTGCCCCCAAGGACAGACGCTTCTGCAAGGAGAAAGCTTAGCATGTGTCTGCCAAATGCCCCGCTGGGCCAGCT
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GTGACCACACCCCAGCCTCTGTGAACTGAATTTACGCAATGTCTGGGAAGAAAAGGCAGGGTCCACTCCGCTCAGAGCCATGCAGGGCAGTGTGCTCCCGTCTCCCCGGCATTTGAATCACTCTTGTGGTGTGTGTCCAGCACAGATGCACGGGACCCCTCAGGCCCATATCCTCAAACAGGTAGTGGTGGGGCACCAGTGCACGAACACTAGGGCTCAGCAGTCAGCCTGGGCGGGTCACAGTTCCGATACCCTCCAGGCTGTCTGGGAGGCGGCCTGGCTGTGGGACCAGTTCTCATGTGAAGCAATGAAGCCACTCTGAGCTTGGCCCCCTGCCCTGGCATGGGCACTGGGCTGCCTGTGTGAAACTCTTGTTTCTCCAGGTGCAAGACAAACCTGGCACTCTTTCTGGCTTCTCCATTCACTTGCCGGGGGCAGGTGGCCAAGCCTGGTTTCATCTCCTTGGGGGGGAATGGAATACTCTCCACATTCAACCCAAAAACAGCCCCAGCAAAGGGCTGACATGGGAGGGAGAGGGGCAGGGTGGCGCCACGCACCCACGGGCACCCAATGCTTTGACGCCGAGACCCAAGCATCTCTCTCAGACATCCCTTCTCATACCAGAAACAGAGCCCACGTATACCAGTCAGACCTGCAGTCAGGCCCATTCACGAGTCAGGCCCATTCACCAGTCAGAAACCACACAGCCACTTATTTGAACAGGGGAAGTTTAATATAAAGATGAACTCTACTCGGAGCATAGAGTTTAAAAAGAGTTCTACACAACACCCTAGGGATGAGGAAGAATGCCTCAGGGAAGAAAGCACAGAAAAGGAGGTGCCCTCCCGAGGCTGGGACTGAGACCTCCTCGCTGGAGAAGGTGTGGGAGGCCCCTGAGGGTGAAGTTCCCCGGGTTGCTCGAGCCAGAGTCTGCACAGTCATAGGGCAAGCAGAAAATTCTTTCGAGAGGGTGGGCGCTCACAGGGAATCGGGAAGCAGAGCCCACCTGCCTACACCTGAAAGGCCACAGCCGGTGCTGGGACCTCTCTGAGGTCTGCAGACTCCAGGCAGAGCACTCCTGGCAGCTGTGCAGCAGGAGCAGGAAGGAAACGACATGAAAGCCCCTTTCTCCCCAGTGTCCCAGTTCAACACCGTGCACGCTACCAAGGAGAAACGGCGCACGGGCCCCACCCACGACTGCAGAGCAGGCAGGGGAGGGGGATCTAGAGCTGAAAGGCAATACATGGATAACGCGCACGCCCCACTCCCACTTTTATTTAGCAAGAGTAAATGCAGCCTAATGACAGGGCGTGGGAAGACCTCCTGCTCACCAGTGTGGGCAGAGTGTAGCGTGGCCTGGGCTCCTAATACAGGTAAATTGTCTCCAAAGGACTAGTAAAGGTGACTGGGTCATCCTCCTGCCCCAGGGACACTGATTAGAGAAAATCCGTCTGTGCTGGCAATACGGCAGTGCTGGACACTCGGAATTCCCTTGAAGGCAAAAGCAAGGAACAGAGCGTGATTAGGTACTGGACACCTGCCAAGTGCTGGGCTCTCTCCAGTTTACAGATGAGGAAACTGAGGCTCCTCGAGTTGGAGCTGGGATGCCAGCCCCCATGGACCTGGCAGAACACGCTCTTGACAGCCCCACAGGGCTTCTCCCTAGGGCGTGCCCTTAGAAGATTCCAGGCAGCAGGCGGTAAGGCACTGCGGCGGTGTAGCGCTCCCAGTCCCGGCCGTACTTGCTGGCGCAGCGGTGCTCGTCCCGGAGGCAGCGGTGGGTCAGCAGGATGGCCATGTAGATGATGTAGAAGTAGGGCAGCAGGTGGCCGCCGCCACAGGCCAGGCAGTAGGCCAGGCTGCCCATCAGGTCGCCGACGTAGTTGAAGTGGCGGGCCACGCCCCAGAAGCCCGACACCAGCAGCTTGCTGTGGTGCCTCTGCCCATCGGCGGATGTGTAGGAGCACTCGATGACCTTGGGCTTCCTGCCCCAGATGAGGCAGCGCCCATCCGTGCGGCGGAACAGGTCCTTCTGGTGGTTGGCCACCTGGAAGATGTAGTAGCCCACCAGGCCCAGCAGCAGGACGCCCACGGCGTGCGGGGTGGACAGCTGCACGGGGTGGTACACCAAGTACAGACCCTGGGGGGCGAGGGGGAAGGGGTCAAGCGGTGCTTTGCCCAGGGAGAGGACAGGAGTGTGGGCTCGGGGGCCCAGCGGCCTGGGGTCAAACCCCAGCTCTGCCTCTGACACACGCCTTGCCTCCGTGTTCTCTTCTGTGAATAAAAGCACCAACCTTGAGGGCTGTTGTGGTCATTAAATGAGTAACTCTACCTGCCTTCTACCTGTCTGTGTGTGTATGTGTGTGTGTATATATACCCCCTATATATATGACATATAGCATAAACATCAAATATGTAACAGTATTAAAAATATAATCTGAATTTAATATTGTGATGGTCAATTTAACGTGTCCACTTGGCCAGGCCATTGTTCCCAGATATTTGGTCAAACACTAGTTGTAAAGGCATTTTTCAGATGAGGTTCATATGTTAATCAGTCAACCAGGCAGAGTGGATGACCCTTCACAATGGGGGTGGGCCTCATCCAATCAGTTGACAGCTTTAAGAGACAGAAGACCCACCTTCCCCAAAGAAGAGGGAATCTGCTAAAAAGTGGCCTTCTGGCCATGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTTGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGGCGTGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCTAGCCTGTGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAGTGACCTTCTATTTAAGCACAGCATCAACTCTTCCCTGGGGCTCCAGGCTGCCCTGAAGATCTTGGACTTGTCACTCTTCAATCACATGAGTTGAAAAATACATCTCTTTCTTACACGTATACCCTCCACCCCTCTATTGATTCTGCTTCTTGGGAGAAACCTAATATATAGTATAAAAAATGTACATCTCGAGACACACACAGAGGCTAAAGCAAGTAAGAGCTATTATATAGTGGGACCTATTGCTACGTTTTCACATCCTTGGAAAATGGAGTTTATAAAACCAGGGAACCAGCAGACCTGCAGCCAGCCAGGTGGAGAAATGGGGCCGGGTGGGCCATGCGGGGGGCTCCAAGGACCTGGTGTGAGCATGGGGCCAGCTGGGGCTCTGCACCCTCCACCTGGTACTGGCCCCCTCTGCTGTGGGAATCCTGGTTTTCCAGGACACCCGCACCTCCATCCCACAGGACTGGCTGTCACAGGTGATGCCGGGCCTGTCACATCCTGAATAGGTGACAGCCTCTCCACGTTGGTTCTCTCCACTTGGGCACAGCCTCTTGGGGCAGGCCACCCCACCGTTCTGCTAAGCAAGTGCCCTGGGGTGAGTTATTTCTGTCCCCAGGGGGCTCGTTGCTCTTGAAATGGGCAGGTGGCATCTGGTCAAGCAGCCACCTTACCTGGGAGCCCAGCACTCTCCCCAAATCAGAGCAGGGCTGCTCTCGTTGAGCTGGGAGGGGAGTGGGGGGCTTGATGCCAATGACAAGGCCACTTGCTATCCCCTACTGTCCTGGAACTCCCAGGGCAGCCCTGCCCCAGTGCCCAGCACATCCTAGGAGGCAGGAATGAAGAGGACCCCTCCTGCCAGTGCCCGCACTGACCCACCTCCACCTCCACTGCCCCATCCAGCCCTGAGCCGGCATCTGCCCTACTTTGCAGATGTTAGGGACATACTCAAGGCCACCTCCCTGGCTGCTGGCCCAAGCTGGCTGAGCTGGCTAATACACGAGGCCTTCCCTTCTTCCTAGAAACAGGGGGCAGCTTTGGTGCCCCCAAGGACAGACGCTTCTGCAAGGAGAAAGCTTAGCATGTGTCTGCCAAATGCCCCGCTGGGCCAGCT
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Task1_train_16246
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A change on Chromosome 11 affects gene DHCR7 (7-dehydrocholesterol reductase). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Smith-Lemli-Opitz syndrome
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TGACCACACCCCAGCCTCTGTGAACTGAATTTACGCAATGTCTGGGAAGAAAAGGCAGGGTCCACTCCGCTCAGAGCCATGCAGGGCAGTGTGCTCCCGTCTCCCCGGCATTTGAATCACTCTTGTGGTGTGTGTCCAGCACAGATGCACGGGACCCCTCAGGCCCATATCCTCAAACAGGTAGTGGTGGGGCACCAGTGCACGAACACTAGGGCTCAGCAGTCAGCCTGGGCGGGTCACAGTTCCGATACCCTCCAGGCTGTCTGGGAGGCGGCCTGGCTGTGGGACCAGTTCTCATGTGAAGCAATGAAGCCACTCTGAGCTTGGCCCCCTGCCCTGGCATGGGCACTGGGCTGCCTGTGTGAAACTCTTGTTTCTCCAGGTGCAAGACAAACCTGGCACTCTTTCTGGCTTCTCCATTCACTTGCCGGGGGCAGGTGGCCAAGCCTGGTTTCATCTCCTTGGGGGGGAATGGAATACTCTCCACATTCAACCCAAAAACAGCCCCAGCAAAGGGCTGACATGGGAGGGAGAGGGGCAGGGTGGCGCCACGCACCCACGGGCACCCAATGCTTTGACGCCGAGACCCAAGCATCTCTCTCAGACATCCCTTCTCATACCAGAAACAGAGCCCACGTATACCAGTCAGACCTGCAGTCAGGCCCATTCACGAGTCAGGCCCATTCACCAGTCAGAAACCACACAGCCACTTATTTGAACAGGGGAAGTTTAATATAAAGATGAACTCTACTCGGAGCATAGAGTTTAAAAAGAGTTCTACACAACACCCTAGGGATGAGGAAGAATGCCTCAGGGAAGAAAGCACAGAAAAGGAGGTGCCCTCCCGAGGCTGGGACTGAGACCTCCTCGCTGGAGAAGGTGTGGGAGGCCCCTGAGGGTGAAGTTCCCCGGGTTGCTCGAGCCAGAGTCTGCACAGTCATAGGGCAAGCAGAAAATTCTTTCGAGAGGGTGGGCGCTCACAGGGAATCGGGAAGCAGAGCCCACCTGCCTACACCTGAAAGGCCACAGCCGGTGCTGGGACCTCTCTGAGGTCTGCAGACTCCAGGCAGAGCACTCCTGGCAGCTGTGCAGCAGGAGCAGGAAGGAAACGACATGAAAGCCCCTTTCTCCCCAGTGTCCCAGTTCAACACCGTGCACGCTACCAAGGAGAAACGGCGCACGGGCCCCACCCACGACTGCAGAGCAGGCAGGGGAGGGGGATCTAGAGCTGAAAGGCAATACATGGATAACGCGCACGCCCCACTCCCACTTTTATTTAGCAAGAGTAAATGCAGCCTAATGACAGGGCGTGGGAAGACCTCCTGCTCACCAGTGTGGGCAGAGTGTAGCGTGGCCTGGGCTCCTAATACAGGTAAATTGTCTCCAAAGGACTAGTAAAGGTGACTGGGTCATCCTCCTGCCCCAGGGACACTGATTAGAGAAAATCCGTCTGTGCTGGCAATACGGCAGTGCTGGACACTCGGAATTCCCTTGAAGGCAAAAGCAAGGAACAGAGCGTGATTAGGTACTGGACACCTGCCAAGTGCTGGGCTCTCTCCAGTTTACAGATGAGGAAACTGAGGCTCCTCGAGTTGGAGCTGGGATGCCAGCCCCCATGGACCTGGCAGAACACGCTCTTGACAGCCCCACAGGGCTTCTCCCTAGGGCGTGCCCTTAGAAGATTCCAGGCAGCAGGCGGTAAGGCACTGCGGCGGTGTAGCGCTCCCAGTCCCGGCCGTACTTGCTGGCGCAGCGGTGCTCGTCCCGGAGGCAGCGGTGGGTCAGCAGGATGGCCATGTAGATGATGTAGAAGTAGGGCAGCAGGTGGCCGCCGCCACAGGCCAGGCAGTAGGCCAGGCTGCCCATCAGGTCGCCGACGTAGTTGAAGTGGCGGGCCACGCCCCAGAAGCCCGACACCAGCAGCTTGCTGTGGTGCCTCTGCCCATCGGCGGATGTGTAGGAGCACTCGATGACCTTGGGCTTCCTGCCCCAGATGAGGCAGCGCCCATCCGTGCGGCGGAACAGGTCCTTCTGGTGGTTGGCCACCCGGAAGATGTAGTAGCCCACCAGGCCCAGCAGCAGGACGCCCACGGCGTGCGGGGTGGACAGCTGCACGGGGTGGTACACCAAGTACAGACCCTGGGGGGCGAGGGGGAAGGGGTCAAGCGGTGCTTTGCCCAGGGAGAGGACAGGAGTGTGGGCTCGGGGGCCCAGCGGCCTGGGGTCAAACCCCAGCTCTGCCTCTGACACACGCCTTGCCTCCGTGTTCTCTTCTGTGAATAAAAGCACCAACCTTGAGGGCTGTTGTGGTCATTAAATGAGTAACTCTACCTGCCTTCTACCTGTCTGTGTGTGTATGTGTGTGTGTATATATACCCCCTATATATATGACATATAGCATAAACATCAAATATGTAACAGTATTAAAAATATAATCTGAATTTAATATTGTGATGGTCAATTTAACGTGTCCACTTGGCCAGGCCATTGTTCCCAGATATTTGGTCAAACACTAGTTGTAAAGGCATTTTTCAGATGAGGTTCATATGTTAATCAGTCAACCAGGCAGAGTGGATGACCCTTCACAATGGGGGTGGGCCTCATCCAATCAGTTGACAGCTTTAAGAGACAGAAGACCCACCTTCCCCAAAGAAGAGGGAATCTGCTAAAAAGTGGCCTTCTGGCCATGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTTGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGGCGTGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCTAGCCTGTGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAGTGACCTTCTATTTAAGCACAGCATCAACTCTTCCCTGGGGCTCCAGGCTGCCCTGAAGATCTTGGACTTGTCACTCTTCAATCACATGAGTTGAAAAATACATCTCTTTCTTACACGTATACCCTCCACCCCTCTATTGATTCTGCTTCTTGGGAGAAACCTAATATATAGTATAAAAAATGTACATCTCGAGACACACACAGAGGCTAAAGCAAGTAAGAGCTATTATATAGTGGGACCTATTGCTACGTTTTCACATCCTTGGAAAATGGAGTTTATAAAACCAGGGAACCAGCAGACCTGCAGCCAGCCAGGTGGAGAAATGGGGCCGGGTGGGCCATGCGGGGGGCTCCAAGGACCTGGTGTGAGCATGGGGCCAGCTGGGGCTCTGCACCCTCCACCTGGTACTGGCCCCCTCTGCTGTGGGAATCCTGGTTTTCCAGGACACCCGCACCTCCATCCCACAGGACTGGCTGTCACAGGTGATGCCGGGCCTGTCACATCCTGAATAGGTGACAGCCTCTCCACGTTGGTTCTCTCCACTTGGGCACAGCCTCTTGGGGCAGGCCACCCCACCGTTCTGCTAAGCAAGTGCCCTGGGGTGAGTTATTTCTGTCCCCAGGGGGCTCGTTGCTCTTGAAATGGGCAGGTGGCATCTGGTCAAGCAGCCACCTTACCTGGGAGCCCAGCACTCTCCCCAAATCAGAGCAGGGCTGCTCTCGTTGAGCTGGGAGGGGAGTGGGGGGCTTGATGCCAATGACAAGGCCACTTGCTATCCCCTACTGTCCTGGAACTCCCAGGGCAGCCCTGCCCCAGTGCCCAGCACATCCTAGGAGGCAGGAATGAAGAGGACCCCTCCTGCCAGTGCCCGCACTGACCCACCTCCACCTCCACTGCCCCATCCAGCCCTGAGCCGGCATCTGCCCTACTTTGCAGATGTTAGGGACATACTCAAGGCCACCTCCCTGGCTGCTGGCCCAAGCTGGCTGAGCTGGCTAATACACGAGGCCTTCCCTTCTTCCTAGAAACAGGGGGCAGCTTTGGTGCCCCCAAGGACAGACGCTTCTGCAAGGAGAAAGCTTAGCATGTGTCTGCCAAATGCCCCGCTGGGCCAGCTC
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TGACCACACCCCAGCCTCTGTGAACTGAATTTACGCAATGTCTGGGAAGAAAAGGCAGGGTCCACTCCGCTCAGAGCCATGCAGGGCAGTGTGCTCCCGTCTCCCCGGCATTTGAATCACTCTTGTGGTGTGTGTCCAGCACAGATGCACGGGACCCCTCAGGCCCATATCCTCAAACAGGTAGTGGTGGGGCACCAGTGCACGAACACTAGGGCTCAGCAGTCAGCCTGGGCGGGTCACAGTTCCGATACCCTCCAGGCTGTCTGGGAGGCGGCCTGGCTGTGGGACCAGTTCTCATGTGAAGCAATGAAGCCACTCTGAGCTTGGCCCCCTGCCCTGGCATGGGCACTGGGCTGCCTGTGTGAAACTCTTGTTTCTCCAGGTGCAAGACAAACCTGGCACTCTTTCTGGCTTCTCCATTCACTTGCCGGGGGCAGGTGGCCAAGCCTGGTTTCATCTCCTTGGGGGGGAATGGAATACTCTCCACATTCAACCCAAAAACAGCCCCAGCAAAGGGCTGACATGGGAGGGAGAGGGGCAGGGTGGCGCCACGCACCCACGGGCACCCAATGCTTTGACGCCGAGACCCAAGCATCTCTCTCAGACATCCCTTCTCATACCAGAAACAGAGCCCACGTATACCAGTCAGACCTGCAGTCAGGCCCATTCACGAGTCAGGCCCATTCACCAGTCAGAAACCACACAGCCACTTATTTGAACAGGGGAAGTTTAATATAAAGATGAACTCTACTCGGAGCATAGAGTTTAAAAAGAGTTCTACACAACACCCTAGGGATGAGGAAGAATGCCTCAGGGAAGAAAGCACAGAAAAGGAGGTGCCCTCCCGAGGCTGGGACTGAGACCTCCTCGCTGGAGAAGGTGTGGGAGGCCCCTGAGGGTGAAGTTCCCCGGGTTGCTCGAGCCAGAGTCTGCACAGTCATAGGGCAAGCAGAAAATTCTTTCGAGAGGGTGGGCGCTCACAGGGAATCGGGAAGCAGAGCCCACCTGCCTACACCTGAAAGGCCACAGCCGGTGCTGGGACCTCTCTGAGGTCTGCAGACTCCAGGCAGAGCACTCCTGGCAGCTGTGCAGCAGGAGCAGGAAGGAAACGACATGAAAGCCCCTTTCTCCCCAGTGTCCCAGTTCAACACCGTGCACGCTACCAAGGAGAAACGGCGCACGGGCCCCACCCACGACTGCAGAGCAGGCAGGGGAGGGGGATCTAGAGCTGAAAGGCAATACATGGATAACGCGCACGCCCCACTCCCACTTTTATTTAGCAAGAGTAAATGCAGCCTAATGACAGGGCGTGGGAAGACCTCCTGCTCACCAGTGTGGGCAGAGTGTAGCGTGGCCTGGGCTCCTAATACAGGTAAATTGTCTCCAAAGGACTAGTAAAGGTGACTGGGTCATCCTCCTGCCCCAGGGACACTGATTAGAGAAAATCCGTCTGTGCTGGCAATACGGCAGTGCTGGACACTCGGAATTCCCTTGAAGGCAAAAGCAAGGAACAGAGCGTGATTAGGTACTGGACACCTGCCAAGTGCTGGGCTCTCTCCAGTTTACAGATGAGGAAACTGAGGCTCCTCGAGTTGGAGCTGGGATGCCAGCCCCCATGGACCTGGCAGAACACGCTCTTGACAGCCCCACAGGGCTTCTCCCTAGGGCGTGCCCTTAGAAGATTCCAGGCAGCAGGCGGTAAGGCACTGCGGCGGTGTAGCGCTCCCAGTCCCGGCCGTACTTGCTGGCGCAGCGGTGCTCGTCCCGGAGGCAGCGGTGGGTCAGCAGGATGGCCATGTAGATGATGTAGAAGTAGGGCAGCAGGTGGCCGCCGCCACAGGCCAGGCAGTAGGCCAGGCTGCCCATCAGGTCGCCGACGTAGTTGAAGTGGCGGGCCACGCCCCAGAAGCCCGACACCAGCAGCTTGCTGTGGTGCCTCTGCCCATCGGCGGATGTGTAGGAGCACTCGATGACCTTGGGCTTCCTGCCCCAGATGAGGCAGCGCCCATCCGTGCGGCGGAACAGGTCCTTCTGGTGGTTGGCCACCCAGAAGATGTAGTAGCCCACCAGGCCCAGCAGCAGGACGCCCACGGCGTGCGGGGTGGACAGCTGCACGGGGTGGTACACCAAGTACAGACCCTGGGGGGCGAGGGGGAAGGGGTCAAGCGGTGCTTTGCCCAGGGAGAGGACAGGAGTGTGGGCTCGGGGGCCCAGCGGCCTGGGGTCAAACCCCAGCTCTGCCTCTGACACACGCCTTGCCTCCGTGTTCTCTTCTGTGAATAAAAGCACCAACCTTGAGGGCTGTTGTGGTCATTAAATGAGTAACTCTACCTGCCTTCTACCTGTCTGTGTGTGTATGTGTGTGTGTATATATACCCCCTATATATATGACATATAGCATAAACATCAAATATGTAACAGTATTAAAAATATAATCTGAATTTAATATTGTGATGGTCAATTTAACGTGTCCACTTGGCCAGGCCATTGTTCCCAGATATTTGGTCAAACACTAGTTGTAAAGGCATTTTTCAGATGAGGTTCATATGTTAATCAGTCAACCAGGCAGAGTGGATGACCCTTCACAATGGGGGTGGGCCTCATCCAATCAGTTGACAGCTTTAAGAGACAGAAGACCCACCTTCCCCAAAGAAGAGGGAATCTGCTAAAAAGTGGCCTTCTGGCCATGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTTGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGGCGTGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCTAGCCTGTGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAGTGACCTTCTATTTAAGCACAGCATCAACTCTTCCCTGGGGCTCCAGGCTGCCCTGAAGATCTTGGACTTGTCACTCTTCAATCACATGAGTTGAAAAATACATCTCTTTCTTACACGTATACCCTCCACCCCTCTATTGATTCTGCTTCTTGGGAGAAACCTAATATATAGTATAAAAAATGTACATCTCGAGACACACACAGAGGCTAAAGCAAGTAAGAGCTATTATATAGTGGGACCTATTGCTACGTTTTCACATCCTTGGAAAATGGAGTTTATAAAACCAGGGAACCAGCAGACCTGCAGCCAGCCAGGTGGAGAAATGGGGCCGGGTGGGCCATGCGGGGGGCTCCAAGGACCTGGTGTGAGCATGGGGCCAGCTGGGGCTCTGCACCCTCCACCTGGTACTGGCCCCCTCTGCTGTGGGAATCCTGGTTTTCCAGGACACCCGCACCTCCATCCCACAGGACTGGCTGTCACAGGTGATGCCGGGCCTGTCACATCCTGAATAGGTGACAGCCTCTCCACGTTGGTTCTCTCCACTTGGGCACAGCCTCTTGGGGCAGGCCACCCCACCGTTCTGCTAAGCAAGTGCCCTGGGGTGAGTTATTTCTGTCCCCAGGGGGCTCGTTGCTCTTGAAATGGGCAGGTGGCATCTGGTCAAGCAGCCACCTTACCTGGGAGCCCAGCACTCTCCCCAAATCAGAGCAGGGCTGCTCTCGTTGAGCTGGGAGGGGAGTGGGGGGCTTGATGCCAATGACAAGGCCACTTGCTATCCCCTACTGTCCTGGAACTCCCAGGGCAGCCCTGCCCCAGTGCCCAGCACATCCTAGGAGGCAGGAATGAAGAGGACCCCTCCTGCCAGTGCCCGCACTGACCCACCTCCACCTCCACTGCCCCATCCAGCCCTGAGCCGGCATCTGCCCTACTTTGCAGATGTTAGGGACATACTCAAGGCCACCTCCCTGGCTGCTGGCCCAAGCTGGCTGAGCTGGCTAATACACGAGGCCTTCCCTTCTTCCTAGAAACAGGGGGCAGCTTTGGTGCCCCCAAGGACAGACGCTTCTGCAAGGAGAAAGCTTAGCATGTGTCTGCCAAATGCCCCGCTGGGCCAGCTC
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Task1_train_16247
|
A genomic change on Chromosome 11 affects DHCR7 (7-dehydrocholesterol reductase). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Smith-Lemli-Opitz syndrome
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CTCTGTGAACTGAATTTACGCAATGTCTGGGAAGAAAAGGCAGGGTCCACTCCGCTCAGAGCCATGCAGGGCAGTGTGCTCCCGTCTCCCCGGCATTTGAATCACTCTTGTGGTGTGTGTCCAGCACAGATGCACGGGACCCCTCAGGCCCATATCCTCAAACAGGTAGTGGTGGGGCACCAGTGCACGAACACTAGGGCTCAGCAGTCAGCCTGGGCGGGTCACAGTTCCGATACCCTCCAGGCTGTCTGGGAGGCGGCCTGGCTGTGGGACCAGTTCTCATGTGAAGCAATGAAGCCACTCTGAGCTTGGCCCCCTGCCCTGGCATGGGCACTGGGCTGCCTGTGTGAAACTCTTGTTTCTCCAGGTGCAAGACAAACCTGGCACTCTTTCTGGCTTCTCCATTCACTTGCCGGGGGCAGGTGGCCAAGCCTGGTTTCATCTCCTTGGGGGGGAATGGAATACTCTCCACATTCAACCCAAAAACAGCCCCAGCAAAGGGCTGACATGGGAGGGAGAGGGGCAGGGTGGCGCCACGCACCCACGGGCACCCAATGCTTTGACGCCGAGACCCAAGCATCTCTCTCAGACATCCCTTCTCATACCAGAAACAGAGCCCACGTATACCAGTCAGACCTGCAGTCAGGCCCATTCACGAGTCAGGCCCATTCACCAGTCAGAAACCACACAGCCACTTATTTGAACAGGGGAAGTTTAATATAAAGATGAACTCTACTCGGAGCATAGAGTTTAAAAAGAGTTCTACACAACACCCTAGGGATGAGGAAGAATGCCTCAGGGAAGAAAGCACAGAAAAGGAGGTGCCCTCCCGAGGCTGGGACTGAGACCTCCTCGCTGGAGAAGGTGTGGGAGGCCCCTGAGGGTGAAGTTCCCCGGGTTGCTCGAGCCAGAGTCTGCACAGTCATAGGGCAAGCAGAAAATTCTTTCGAGAGGGTGGGCGCTCACAGGGAATCGGGAAGCAGAGCCCACCTGCCTACACCTGAAAGGCCACAGCCGGTGCTGGGACCTCTCTGAGGTCTGCAGACTCCAGGCAGAGCACTCCTGGCAGCTGTGCAGCAGGAGCAGGAAGGAAACGACATGAAAGCCCCTTTCTCCCCAGTGTCCCAGTTCAACACCGTGCACGCTACCAAGGAGAAACGGCGCACGGGCCCCACCCACGACTGCAGAGCAGGCAGGGGAGGGGGATCTAGAGCTGAAAGGCAATACATGGATAACGCGCACGCCCCACTCCCACTTTTATTTAGCAAGAGTAAATGCAGCCTAATGACAGGGCGTGGGAAGACCTCCTGCTCACCAGTGTGGGCAGAGTGTAGCGTGGCCTGGGCTCCTAATACAGGTAAATTGTCTCCAAAGGACTAGTAAAGGTGACTGGGTCATCCTCCTGCCCCAGGGACACTGATTAGAGAAAATCCGTCTGTGCTGGCAATACGGCAGTGCTGGACACTCGGAATTCCCTTGAAGGCAAAAGCAAGGAACAGAGCGTGATTAGGTACTGGACACCTGCCAAGTGCTGGGCTCTCTCCAGTTTACAGATGAGGAAACTGAGGCTCCTCGAGTTGGAGCTGGGATGCCAGCCCCCATGGACCTGGCAGAACACGCTCTTGACAGCCCCACAGGGCTTCTCCCTAGGGCGTGCCCTTAGAAGATTCCAGGCAGCAGGCGGTAAGGCACTGCGGCGGTGTAGCGCTCCCAGTCCCGGCCGTACTTGCTGGCGCAGCGGTGCTCGTCCCGGAGGCAGCGGTGGGTCAGCAGGATGGCCATGTAGATGATGTAGAAGTAGGGCAGCAGGTGGCCGCCGCCACAGGCCAGGCAGTAGGCCAGGCTGCCCATCAGGTCGCCGACGTAGTTGAAGTGGCGGGCCACGCCCCAGAAGCCCGACACCAGCAGCTTGCTGTGGTGCCTCTGCCCATCGGCGGATGTGTAGGAGCACTCGATGACCTTGGGCTTCCTGCCCCAGATGAGGCAGCGCCCATCCGTGCGGCGGAACAGGTCCTTCTGGTGGTTGGCCACCCGGAAGATGTAGTAGCCCACCAGGCCCAGCAGCAGGACGCCCACGGCGTGCGGGGTGGACAGCTGCACGGGGTGGTACACCAAGTACAGACCCTGGGGGGCGAGGGGGAAGGGGTCAAGCGGTGCTTTGCCCAGGGAGAGGACAGGAGTGTGGGCTCGGGGGCCCAGCGGCCTGGGGTCAAACCCCAGCTCTGCCTCTGACACACGCCTTGCCTCCGTGTTCTCTTCTGTGAATAAAAGCACCAACCTTGAGGGCTGTTGTGGTCATTAAATGAGTAACTCTACCTGCCTTCTACCTGTCTGTGTGTGTATGTGTGTGTGTATATATACCCCCTATATATATGACATATAGCATAAACATCAAATATGTAACAGTATTAAAAATATAATCTGAATTTAATATTGTGATGGTCAATTTAACGTGTCCACTTGGCCAGGCCATTGTTCCCAGATATTTGGTCAAACACTAGTTGTAAAGGCATTTTTCAGATGAGGTTCATATGTTAATCAGTCAACCAGGCAGAGTGGATGACCCTTCACAATGGGGGTGGGCCTCATCCAATCAGTTGACAGCTTTAAGAGACAGAAGACCCACCTTCCCCAAAGAAGAGGGAATCTGCTAAAAAGTGGCCTTCTGGCCATGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTTGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGGCGTGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCTAGCCTGTGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAGTGACCTTCTATTTAAGCACAGCATCAACTCTTCCCTGGGGCTCCAGGCTGCCCTGAAGATCTTGGACTTGTCACTCTTCAATCACATGAGTTGAAAAATACATCTCTTTCTTACACGTATACCCTCCACCCCTCTATTGATTCTGCTTCTTGGGAGAAACCTAATATATAGTATAAAAAATGTACATCTCGAGACACACACAGAGGCTAAAGCAAGTAAGAGCTATTATATAGTGGGACCTATTGCTACGTTTTCACATCCTTGGAAAATGGAGTTTATAAAACCAGGGAACCAGCAGACCTGCAGCCAGCCAGGTGGAGAAATGGGGCCGGGTGGGCCATGCGGGGGGCTCCAAGGACCTGGTGTGAGCATGGGGCCAGCTGGGGCTCTGCACCCTCCACCTGGTACTGGCCCCCTCTGCTGTGGGAATCCTGGTTTTCCAGGACACCCGCACCTCCATCCCACAGGACTGGCTGTCACAGGTGATGCCGGGCCTGTCACATCCTGAATAGGTGACAGCCTCTCCACGTTGGTTCTCTCCACTTGGGCACAGCCTCTTGGGGCAGGCCACCCCACCGTTCTGCTAAGCAAGTGCCCTGGGGTGAGTTATTTCTGTCCCCAGGGGGCTCGTTGCTCTTGAAATGGGCAGGTGGCATCTGGTCAAGCAGCCACCTTACCTGGGAGCCCAGCACTCTCCCCAAATCAGAGCAGGGCTGCTCTCGTTGAGCTGGGAGGGGAGTGGGGGGCTTGATGCCAATGACAAGGCCACTTGCTATCCCCTACTGTCCTGGAACTCCCAGGGCAGCCCTGCCCCAGTGCCCAGCACATCCTAGGAGGCAGGAATGAAGAGGACCCCTCCTGCCAGTGCCCGCACTGACCCACCTCCACCTCCACTGCCCCATCCAGCCCTGAGCCGGCATCTGCCCTACTTTGCAGATGTTAGGGACATACTCAAGGCCACCTCCCTGGCTGCTGGCCCAAGCTGGCTGAGCTGGCTAATACACGAGGCCTTCCCTTCTTCCTAGAAACAGGGGGCAGCTTTGGTGCCCCCAAGGACAGACGCTTCTGCAAGGAGAAAGCTTAGCATGTGTCTGCCAAATGCCCCGCTGGGCCAGCTCTGCCCACCTCCTCAC
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CTCTGTGAACTGAATTTACGCAATGTCTGGGAAGAAAAGGCAGGGTCCACTCCGCTCAGAGCCATGCAGGGCAGTGTGCTCCCGTCTCCCCGGCATTTGAATCACTCTTGTGGTGTGTGTCCAGCACAGATGCACGGGACCCCTCAGGCCCATATCCTCAAACAGGTAGTGGTGGGGCACCAGTGCACGAACACTAGGGCTCAGCAGTCAGCCTGGGCGGGTCACAGTTCCGATACCCTCCAGGCTGTCTGGGAGGCGGCCTGGCTGTGGGACCAGTTCTCATGTGAAGCAATGAAGCCACTCTGAGCTTGGCCCCCTGCCCTGGCATGGGCACTGGGCTGCCTGTGTGAAACTCTTGTTTCTCCAGGTGCAAGACAAACCTGGCACTCTTTCTGGCTTCTCCATTCACTTGCCGGGGGCAGGTGGCCAAGCCTGGTTTCATCTCCTTGGGGGGGAATGGAATACTCTCCACATTCAACCCAAAAACAGCCCCAGCAAAGGGCTGACATGGGAGGGAGAGGGGCAGGGTGGCGCCACGCACCCACGGGCACCCAATGCTTTGACGCCGAGACCCAAGCATCTCTCTCAGACATCCCTTCTCATACCAGAAACAGAGCCCACGTATACCAGTCAGACCTGCAGTCAGGCCCATTCACGAGTCAGGCCCATTCACCAGTCAGAAACCACACAGCCACTTATTTGAACAGGGGAAGTTTAATATAAAGATGAACTCTACTCGGAGCATAGAGTTTAAAAAGAGTTCTACACAACACCCTAGGGATGAGGAAGAATGCCTCAGGGAAGAAAGCACAGAAAAGGAGGTGCCCTCCCGAGGCTGGGACTGAGACCTCCTCGCTGGAGAAGGTGTGGGAGGCCCCTGAGGGTGAAGTTCCCCGGGTTGCTCGAGCCAGAGTCTGCACAGTCATAGGGCAAGCAGAAAATTCTTTCGAGAGGGTGGGCGCTCACAGGGAATCGGGAAGCAGAGCCCACCTGCCTACACCTGAAAGGCCACAGCCGGTGCTGGGACCTCTCTGAGGTCTGCAGACTCCAGGCAGAGCACTCCTGGCAGCTGTGCAGCAGGAGCAGGAAGGAAACGACATGAAAGCCCCTTTCTCCCCAGTGTCCCAGTTCAACACCGTGCACGCTACCAAGGAGAAACGGCGCACGGGCCCCACCCACGACTGCAGAGCAGGCAGGGGAGGGGGATCTAGAGCTGAAAGGCAATACATGGATAACGCGCACGCCCCACTCCCACTTTTATTTAGCAAGAGTAAATGCAGCCTAATGACAGGGCGTGGGAAGACCTCCTGCTCACCAGTGTGGGCAGAGTGTAGCGTGGCCTGGGCTCCTAATACAGGTAAATTGTCTCCAAAGGACTAGTAAAGGTGACTGGGTCATCCTCCTGCCCCAGGGACACTGATTAGAGAAAATCCGTCTGTGCTGGCAATACGGCAGTGCTGGACACTCGGAATTCCCTTGAAGGCAAAAGCAAGGAACAGAGCGTGATTAGGTACTGGACACCTGCCAAGTGCTGGGCTCTCTCCAGTTTACAGATGAGGAAACTGAGGCTCCTCGAGTTGGAGCTGGGATGCCAGCCCCCATGGACCTGGCAGAACACGCTCTTGACAGCCCCACAGGGCTTCTCCCTAGGGCGTGCCCTTAGAAGATTCCAGGCAGCAGGCGGTAAGGCACTGCGGCGGTGTAGCGCTCCCAGTCCCGGCCGTACTTGCTGGCGCAGCGGTGCTCGTCCCGGAGGCAGCGGTGGGTCAGCAGGATGGCCATGTAGATGATGTAGAAGTAGGGCAGCAGGTGGCCGCCGCCACAGGCCAGGCAGTAGGCCAGGCTGCCCATCAGGTCGCCGACGTAGTTGAAGTGGCGGGCCACGCCCCAGAAGCCCGACACCAGCAGCTTGCTGTGGTGCCTCTGCCCATCGGCGGATGTGTAGGAGCACTCGATGACCTTGGGCTTCCTGCCCCAGATGAGGCAGCGCCCATCCGTGCGGCGGAACAGGTCCTTCTGGTGGTTGGCCACCCGGAAGATGTAGTAGCTCACCAGGCCCAGCAGCAGGACGCCCACGGCGTGCGGGGTGGACAGCTGCACGGGGTGGTACACCAAGTACAGACCCTGGGGGGCGAGGGGGAAGGGGTCAAGCGGTGCTTTGCCCAGGGAGAGGACAGGAGTGTGGGCTCGGGGGCCCAGCGGCCTGGGGTCAAACCCCAGCTCTGCCTCTGACACACGCCTTGCCTCCGTGTTCTCTTCTGTGAATAAAAGCACCAACCTTGAGGGCTGTTGTGGTCATTAAATGAGTAACTCTACCTGCCTTCTACCTGTCTGTGTGTGTATGTGTGTGTGTATATATACCCCCTATATATATGACATATAGCATAAACATCAAATATGTAACAGTATTAAAAATATAATCTGAATTTAATATTGTGATGGTCAATTTAACGTGTCCACTTGGCCAGGCCATTGTTCCCAGATATTTGGTCAAACACTAGTTGTAAAGGCATTTTTCAGATGAGGTTCATATGTTAATCAGTCAACCAGGCAGAGTGGATGACCCTTCACAATGGGGGTGGGCCTCATCCAATCAGTTGACAGCTTTAAGAGACAGAAGACCCACCTTCCCCAAAGAAGAGGGAATCTGCTAAAAAGTGGCCTTCTGGCCATGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTTGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGGCGTGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCTAGCCTGTGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAGTGACCTTCTATTTAAGCACAGCATCAACTCTTCCCTGGGGCTCCAGGCTGCCCTGAAGATCTTGGACTTGTCACTCTTCAATCACATGAGTTGAAAAATACATCTCTTTCTTACACGTATACCCTCCACCCCTCTATTGATTCTGCTTCTTGGGAGAAACCTAATATATAGTATAAAAAATGTACATCTCGAGACACACACAGAGGCTAAAGCAAGTAAGAGCTATTATATAGTGGGACCTATTGCTACGTTTTCACATCCTTGGAAAATGGAGTTTATAAAACCAGGGAACCAGCAGACCTGCAGCCAGCCAGGTGGAGAAATGGGGCCGGGTGGGCCATGCGGGGGGCTCCAAGGACCTGGTGTGAGCATGGGGCCAGCTGGGGCTCTGCACCCTCCACCTGGTACTGGCCCCCTCTGCTGTGGGAATCCTGGTTTTCCAGGACACCCGCACCTCCATCCCACAGGACTGGCTGTCACAGGTGATGCCGGGCCTGTCACATCCTGAATAGGTGACAGCCTCTCCACGTTGGTTCTCTCCACTTGGGCACAGCCTCTTGGGGCAGGCCACCCCACCGTTCTGCTAAGCAAGTGCCCTGGGGTGAGTTATTTCTGTCCCCAGGGGGCTCGTTGCTCTTGAAATGGGCAGGTGGCATCTGGTCAAGCAGCCACCTTACCTGGGAGCCCAGCACTCTCCCCAAATCAGAGCAGGGCTGCTCTCGTTGAGCTGGGAGGGGAGTGGGGGGCTTGATGCCAATGACAAGGCCACTTGCTATCCCCTACTGTCCTGGAACTCCCAGGGCAGCCCTGCCCCAGTGCCCAGCACATCCTAGGAGGCAGGAATGAAGAGGACCCCTCCTGCCAGTGCCCGCACTGACCCACCTCCACCTCCACTGCCCCATCCAGCCCTGAGCCGGCATCTGCCCTACTTTGCAGATGTTAGGGACATACTCAAGGCCACCTCCCTGGCTGCTGGCCCAAGCTGGCTGAGCTGGCTAATACACGAGGCCTTCCCTTCTTCCTAGAAACAGGGGGCAGCTTTGGTGCCCCCAAGGACAGACGCTTCTGCAAGGAGAAAGCTTAGCATGTGTCTGCCAAATGCCCCGCTGGGCCAGCTCTGCCCACCTCCTCAC
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Task1_train_16248
|
A sequence alteration has been identified in DHCR7 (7-dehydrocholesterol reductase) on Chromosome 11. Is it disease-inducing or harmless?
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Pathogenic; Smith-Lemli-Opitz syndrome
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AGCAGCAGGACGCCCACGGCGTGCGGGGTGGACAGCTGCACGGGGTGGTACACCAAGTACAGACCCTGGGGGGCGAGGGGGAAGGGGTCAAGCGGTGCTTTGCCCAGGGAGAGGACAGGAGTGTGGGCTCGGGGGCCCAGCGGCCTGGGGTCAAACCCCAGCTCTGCCTCTGACACACGCCTTGCCTCCGTGTTCTCTTCTGTGAATAAAAGCACCAACCTTGAGGGCTGTTGTGGTCATTAAATGAGTAACTCTACCTGCCTTCTACCTGTCTGTGTGTGTATGTGTGTGTGTATATATACCCCCTATATATATGACATATAGCATAAACATCAAATATGTAACAGTATTAAAAATATAATCTGAATTTAATATTGTGATGGTCAATTTAACGTGTCCACTTGGCCAGGCCATTGTTCCCAGATATTTGGTCAAACACTAGTTGTAAAGGCATTTTTCAGATGAGGTTCATATGTTAATCAGTCAACCAGGCAGAGTGGATGACCCTTCACAATGGGGGTGGGCCTCATCCAATCAGTTGACAGCTTTAAGAGACAGAAGACCCACCTTCCCCAAAGAAGAGGGAATCTGCTAAAAAGTGGCCTTCTGGCCATGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTTGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGGCGTGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCTAGCCTGTGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAGTGACCTTCTATTTAAGCACAGCATCAACTCTTCCCTGGGGCTCCAGGCTGCCCTGAAGATCTTGGACTTGTCACTCTTCAATCACATGAGTTGAAAAATACATCTCTTTCTTACACGTATACCCTCCACCCCTCTATTGATTCTGCTTCTTGGGAGAAACCTAATATATAGTATAAAAAATGTACATCTCGAGACACACACAGAGGCTAAAGCAAGTAAGAGCTATTATATAGTGGGACCTATTGCTACGTTTTCACATCCTTGGAAAATGGAGTTTATAAAACCAGGGAACCAGCAGACCTGCAGCCAGCCAGGTGGAGAAATGGGGCCGGGTGGGCCATGCGGGGGGCTCCAAGGACCTGGTGTGAGCATGGGGCCAGCTGGGGCTCTGCACCCTCCACCTGGTACTGGCCCCCTCTGCTGTGGGAATCCTGGTTTTCCAGGACACCCGCACCTCCATCCCACAGGACTGGCTGTCACAGGTGATGCCGGGCCTGTCACATCCTGAATAGGTGACAGCCTCTCCACGTTGGTTCTCTCCACTTGGGCACAGCCTCTTGGGGCAGGCCACCCCACCGTTCTGCTAAGCAAGTGCCCTGGGGTGAGTTATTTCTGTCCCCAGGGGGCTCGTTGCTCTTGAAATGGGCAGGTGGCATCTGGTCAAGCAGCCACCTTACCTGGGAGCCCAGCACTCTCCCCAAATCAGAGCAGGGCTGCTCTCGTTGAGCTGGGAGGGGAGTGGGGGGCTTGATGCCAATGACAAGGCCACTTGCTATCCCCTACTGTCCTGGAACTCCCAGGGCAGCCCTGCCCCAGTGCCCAGCACATCCTAGGAGGCAGGAATGAAGAGGACCCCTCCTGCCAGTGCCCGCACTGACCCACCTCCACCTCCACTGCCCCATCCAGCCCTGAGCCGGCATCTGCCCTACTTTGCAGATGTTAGGGACATACTCAAGGCCACCTCCCTGGCTGCTGGCCCAAGCTGGCTGAGCTGGCTAATACACGAGGCCTTCCCTTCTTCCTAGAAACAGGGGGCAGCTTTGGTGCCCCCAAGGACAGACGCTTCTGCAAGGAGAAAGCTTAGCATGTGTCTGCCAAATGCCCCGCTGGGCCAGCTCTGCCCACCTCCTCACCTGCAGCGTGTAAAGATAAGGCAGCCAGACACAGTCGCCCCAGCCCAGGTACCACCCGAAGTGGTCATGGCAGATGTCAATGGTCTTCAGGTACCAGGTTTCGTTCCAGAAGAAGTCAATCACGTAGATGGCCTGCAAGACAGAAGCAGCCGCTGACCACCCCCGGCCCTCCTGGGGCCCCCATGGACCTCGGGGAAATCACACTCCACGCAGATGCAGCAGGGGGTGCTCGGGAGCTGCTCAGCAACTTCCTCAATGCTGGGGCTGTTCCTTCCCTGCGGCTGGGGCTGTTCCTGCCTGGGTCATGGGCAGGGCTAAGGGCTTCCTTGTCCTCAGAACCACCCCGAGCCCATGGCCCTGGCATCTCTCCCAGCCCAGGTTCTCAGGGCTTGCAATGGCGCGTGCCAAGGGGAAGGGATACATTCATCCCATCCAGGTCAACCTCCTGCCCGAGCAACGTCCACAGCTCCTGACAGGCCTCCCTCACCCTCTCGGGTTCTCCTAGCCAGCTCCCGCTGGCTCCCTGGGTGACGCTTCCGAATGCACCTGATCGCTGCCACCCTGCACCCCAGCTCAGCACACACTTTCTGGGTCTTGCTGCTTTTAAGATAAAGAGGAAGACTTCCATGAGGCCTCCAGCCTCACCTGGCTCTGAGCTCCTGAACGCTCTCTGGTCAGGATGCGGGATGTTTCTGAGTGTCCCAGACTTGCCACCCTCTCTCCCTACAGGGGGTTCCTGGAGCATGCACTCTTGCCTCCACTCTACCAGGTTAACTCCCACACACCCCCAGATTCTACCCAGGTGTAATCCCCAAGGGAGACCTTCCTGGACCACGCCTGGCTGCGTAGAACCTGCCTCCTCCCCTCCCAGGGCTGGCAGAGACAGGCACCCAAGGATGGCTTCCTTCACCAAGTGCTCGCCGGCTGCTTCCTGGTGACACCTGGGGAGGGCAGCTGACTCTCTTTTACAAGCAGTAGATTAAGGTCATGGGAATACGCTCTGGCTTGCGGGTTCCCCCAGAGCCTGCCGGCATCGGCGTTTCACCCTCTCCAGCCATGACAGGCACCTGCAGGACGTTGACCAGGACCATGGCATTGGTCACATGGCTGTGGAGCTCCCGCTGCTTCGCTGCGAAGGACAGGTTGATGAGGGTCCAGGCGACGATCCCGGGGCGCCCATTGAAGAACAGCTTGAAGTCAAACCACTTCCCGATCCGAGGGTTAAACTCGATGCCCATCATGTAGTTGTAAAAGAAATTGCCTGTGAATTTGCTTAAAAATATAAATAAAAGATACATTTAGTGGATGAGCATATCTCACAAGATGAAGCCACCTTACTTAGCGAGAGCCCAGCACTGGCCCAGGGTCCTAAAGGGTAACGTGAGACGGCGCAGGCAGAAGCTGGCCATGAGCCGCTGGGACCCCCACGGCTGGAATGCTTGTCGGCTGGTTCCTGGCGCCCTCATTCACTTTGCTTTGCATTCAGCTGCTGCTCAGCAGAGACTTCCTTAGGCAGAAGCCCAGGGGCACCTGCTCTGCACCCGGGAAGGGTGGGAGACCGGCCCTGGGCTGGTACCTGGGTTTCTCTCTACCCTTCTCCAGATGCCCTTGACGCATGGCACAGGTGAGCTGAAGAACTGGCTTGATTGCACTGAGATTACGTTCTGGGGCCCAAGCACACGGTTTGAAGCCGACGCAGGGCACGTGGGCCCTCATGGGTGAGTGACATTATAAATCACGCCAACGTAGAGAATGACAAACGCACCCTGGGCCCGGCTTCCAGCATGTGCAGGACAAGTTCTTTGACCAGTTACCTGAATCCCCCAATCCCCGGAGGGCCAGAGCATCAGCCGAGATAACCCCTGTGGAGACCCTGACTAGGTCTAGCTGGCTGAGGACACACAACAATTTCTGTGTTAACTAGAAAATCCTATTTTCATGTCCAGTTCCCTCAGGTAGGGTAAGTAGAAAGAAGCAAAACACACAAAGTCTACATGATTATAAGGTAGCGAGGATGATTTCCAGGAGCCATTGAAGGCCAGCCTCGTTATCTGATAAC
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AGCAGCAGGACGCCCACGGCGTGCGGGGTGGACAGCTGCACGGGGTGGTACACCAAGTACAGACCCTGGGGGGCGAGGGGGAAGGGGTCAAGCGGTGCTTTGCCCAGGGAGAGGACAGGAGTGTGGGCTCGGGGGCCCAGCGGCCTGGGGTCAAACCCCAGCTCTGCCTCTGACACACGCCTTGCCTCCGTGTTCTCTTCTGTGAATAAAAGCACCAACCTTGAGGGCTGTTGTGGTCATTAAATGAGTAACTCTACCTGCCTTCTACCTGTCTGTGTGTGTATGTGTGTGTGTATATATACCCCCTATATATATGACATATAGCATAAACATCAAATATGTAACAGTATTAAAAATATAATCTGAATTTAATATTGTGATGGTCAATTTAACGTGTCCACTTGGCCAGGCCATTGTTCCCAGATATTTGGTCAAACACTAGTTGTAAAGGCATTTTTCAGATGAGGTTCATATGTTAATCAGTCAACCAGGCAGAGTGGATGACCCTTCACAATGGGGGTGGGCCTCATCCAATCAGTTGACAGCTTTAAGAGACAGAAGACCCACCTTCCCCAAAGAAGAGGGAATCTGCTAAAAAGTGGCCTTCTGGCCATGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTTGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGGCGTGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCTAGCCTGTGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAGTGACCTTCTATTTAAGCACAGCATCAACTCTTCCCTGGGGCTCCAGGCTGCCCTGAAGATCTTGGACTTGTCACTCTTCAATCACATGAGTTGAAAAATACATCTCTTTCTTACACGTATACCCTCCACCCCTCTATTGATTCTGCTTCTTGGGAGAAACCTAATATATAGTATAAAAAATGTACATCTCGAGACACACACAGAGGCTAAAGCAAGTAAGAGCTATTATATAGTGGGACCTATTGCTACGTTTTCACATCCTTGGAAAATGGAGTTTATAAAACCAGGGAACCAGCAGACCTGCAGCCAGCCAGGTGGAGAAATGGGGCCGGGTGGGCCATGCGGGGGGCTCCAAGGACCTGGTGTGAGCATGGGGCCAGCTGGGGCTCTGCACCCTCCACCTGGTACTGGCCCCCTCTGCTGTGGGAATCCTGGTTTTCCAGGACACCCGCACCTCCATCCCACAGGACTGGCTGTCACAGGTGATGCCGGGCCTGTCACATCCTGAATAGGTGACAGCCTCTCCACGTTGGTTCTCTCCACTTGGGCACAGCCTCTTGGGGCAGGCCACCCCACCGTTCTGCTAAGCAAGTGCCCTGGGGTGAGTTATTTCTGTCCCCAGGGGGCTCGTTGCTCTTGAAATGGGCAGGTGGCATCTGGTCAAGCAGCCACCTTACCTGGGAGCCCAGCACTCTCCCCAAATCAGAGCAGGGCTGCTCTCGTTGAGCTGGGAGGGGAGTGGGGGGCTTGATGCCAATGACAAGGCCACTTGCTATCCCCTACTGTCCTGGAACTCCCAGGGCAGCCCTGCCCCAGTGCCCAGCACATCCTAGGAGGCAGGAATGAAGAGGACCCCTCCTGCCAGTGCCCGCACTGACCCACCTCCACCTCCACTGCCCCATCCAGCCCTGAGCCGGCATCTGCCCTACTTTGCAGATGTTAGGGACATACTCAAGGCCACCTCCCTGGCTGCTGGCCCAAGCTGGCTGAGCTGGCTAATACACGAGGCCTTCCCTTCTTCCTAGAAACAGGGGGCAGCTTTGGTGCCCCCAAGGACAGACGCTTCTGCAAGGAGAAAGCTTAGCATGTGTCTGCCAAATGCCCCGCTGGGCCAGCTCTGCCCACCTCCTCACCTGCAGCGTGTTAAGATAAGGCAGCCAGACACAGTCGCCCCAGCCCAGGTACCACCCGAAGTGGTCATGGCAGATGTCAATGGTCTTCAGGTACCAGGTTTCGTTCCAGAAGAAGTCAATCACGTAGATGGCCTGCAAGACAGAAGCAGCCGCTGACCACCCCCGGCCCTCCTGGGGCCCCCATGGACCTCGGGGAAATCACACTCCACGCAGATGCAGCAGGGGGTGCTCGGGAGCTGCTCAGCAACTTCCTCAATGCTGGGGCTGTTCCTTCCCTGCGGCTGGGGCTGTTCCTGCCTGGGTCATGGGCAGGGCTAAGGGCTTCCTTGTCCTCAGAACCACCCCGAGCCCATGGCCCTGGCATCTCTCCCAGCCCAGGTTCTCAGGGCTTGCAATGGCGCGTGCCAAGGGGAAGGGATACATTCATCCCATCCAGGTCAACCTCCTGCCCGAGCAACGTCCACAGCTCCTGACAGGCCTCCCTCACCCTCTCGGGTTCTCCTAGCCAGCTCCCGCTGGCTCCCTGGGTGACGCTTCCGAATGCACCTGATCGCTGCCACCCTGCACCCCAGCTCAGCACACACTTTCTGGGTCTTGCTGCTTTTAAGATAAAGAGGAAGACTTCCATGAGGCCTCCAGCCTCACCTGGCTCTGAGCTCCTGAACGCTCTCTGGTCAGGATGCGGGATGTTTCTGAGTGTCCCAGACTTGCCACCCTCTCTCCCTACAGGGGGTTCCTGGAGCATGCACTCTTGCCTCCACTCTACCAGGTTAACTCCCACACACCCCCAGATTCTACCCAGGTGTAATCCCCAAGGGAGACCTTCCTGGACCACGCCTGGCTGCGTAGAACCTGCCTCCTCCCCTCCCAGGGCTGGCAGAGACAGGCACCCAAGGATGGCTTCCTTCACCAAGTGCTCGCCGGCTGCTTCCTGGTGACACCTGGGGAGGGCAGCTGACTCTCTTTTACAAGCAGTAGATTAAGGTCATGGGAATACGCTCTGGCTTGCGGGTTCCCCCAGAGCCTGCCGGCATCGGCGTTTCACCCTCTCCAGCCATGACAGGCACCTGCAGGACGTTGACCAGGACCATGGCATTGGTCACATGGCTGTGGAGCTCCCGCTGCTTCGCTGCGAAGGACAGGTTGATGAGGGTCCAGGCGACGATCCCGGGGCGCCCATTGAAGAACAGCTTGAAGTCAAACCACTTCCCGATCCGAGGGTTAAACTCGATGCCCATCATGTAGTTGTAAAAGAAATTGCCTGTGAATTTGCTTAAAAATATAAATAAAAGATACATTTAGTGGATGAGCATATCTCACAAGATGAAGCCACCTTACTTAGCGAGAGCCCAGCACTGGCCCAGGGTCCTAAAGGGTAACGTGAGACGGCGCAGGCAGAAGCTGGCCATGAGCCGCTGGGACCCCCACGGCTGGAATGCTTGTCGGCTGGTTCCTGGCGCCCTCATTCACTTTGCTTTGCATTCAGCTGCTGCTCAGCAGAGACTTCCTTAGGCAGAAGCCCAGGGGCACCTGCTCTGCACCCGGGAAGGGTGGGAGACCGGCCCTGGGCTGGTACCTGGGTTTCTCTCTACCCTTCTCCAGATGCCCTTGACGCATGGCACAGGTGAGCTGAAGAACTGGCTTGATTGCACTGAGATTACGTTCTGGGGCCCAAGCACACGGTTTGAAGCCGACGCAGGGCACGTGGGCCCTCATGGGTGAGTGACATTATAAATCACGCCAACGTAGAGAATGACAAACGCACCCTGGGCCCGGCTTCCAGCATGTGCAGGACAAGTTCTTTGACCAGTTACCTGAATCCCCCAATCCCCGGAGGGCCAGAGCATCAGCCGAGATAACCCCTGTGGAGACCCTGACTAGGTCTAGCTGGCTGAGGACACACAACAATTTCTGTGTTAACTAGAAAATCCTATTTTCATGTCCAGTTCCCTCAGGTAGGGTAAGTAGAAAGAAGCAAAACACACAAAGTCTACATGATTATAAGGTAGCGAGGATGATTTCCAGGAGCCATTGAAGGCCAGCCTCGTTATCTGATAAC
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Task1_train_16249
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This mutation is located in gene DHCR7 (7-dehydrocholesterol reductase) on Chromosome 11. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Smith-Lemli-Opitz syndrome
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GTGGACAGCTGCACGGGGTGGTACACCAAGTACAGACCCTGGGGGGCGAGGGGGAAGGGGTCAAGCGGTGCTTTGCCCAGGGAGAGGACAGGAGTGTGGGCTCGGGGGCCCAGCGGCCTGGGGTCAAACCCCAGCTCTGCCTCTGACACACGCCTTGCCTCCGTGTTCTCTTCTGTGAATAAAAGCACCAACCTTGAGGGCTGTTGTGGTCATTAAATGAGTAACTCTACCTGCCTTCTACCTGTCTGTGTGTGTATGTGTGTGTGTATATATACCCCCTATATATATGACATATAGCATAAACATCAAATATGTAACAGTATTAAAAATATAATCTGAATTTAATATTGTGATGGTCAATTTAACGTGTCCACTTGGCCAGGCCATTGTTCCCAGATATTTGGTCAAACACTAGTTGTAAAGGCATTTTTCAGATGAGGTTCATATGTTAATCAGTCAACCAGGCAGAGTGGATGACCCTTCACAATGGGGGTGGGCCTCATCCAATCAGTTGACAGCTTTAAGAGACAGAAGACCCACCTTCCCCAAAGAAGAGGGAATCTGCTAAAAAGTGGCCTTCTGGCCATGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTTGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGGCGTGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCTAGCCTGTGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAGTGACCTTCTATTTAAGCACAGCATCAACTCTTCCCTGGGGCTCCAGGCTGCCCTGAAGATCTTGGACTTGTCACTCTTCAATCACATGAGTTGAAAAATACATCTCTTTCTTACACGTATACCCTCCACCCCTCTATTGATTCTGCTTCTTGGGAGAAACCTAATATATAGTATAAAAAATGTACATCTCGAGACACACACAGAGGCTAAAGCAAGTAAGAGCTATTATATAGTGGGACCTATTGCTACGTTTTCACATCCTTGGAAAATGGAGTTTATAAAACCAGGGAACCAGCAGACCTGCAGCCAGCCAGGTGGAGAAATGGGGCCGGGTGGGCCATGCGGGGGGCTCCAAGGACCTGGTGTGAGCATGGGGCCAGCTGGGGCTCTGCACCCTCCACCTGGTACTGGCCCCCTCTGCTGTGGGAATCCTGGTTTTCCAGGACACCCGCACCTCCATCCCACAGGACTGGCTGTCACAGGTGATGCCGGGCCTGTCACATCCTGAATAGGTGACAGCCTCTCCACGTTGGTTCTCTCCACTTGGGCACAGCCTCTTGGGGCAGGCCACCCCACCGTTCTGCTAAGCAAGTGCCCTGGGGTGAGTTATTTCTGTCCCCAGGGGGCTCGTTGCTCTTGAAATGGGCAGGTGGCATCTGGTCAAGCAGCCACCTTACCTGGGAGCCCAGCACTCTCCCCAAATCAGAGCAGGGCTGCTCTCGTTGAGCTGGGAGGGGAGTGGGGGGCTTGATGCCAATGACAAGGCCACTTGCTATCCCCTACTGTCCTGGAACTCCCAGGGCAGCCCTGCCCCAGTGCCCAGCACATCCTAGGAGGCAGGAATGAAGAGGACCCCTCCTGCCAGTGCCCGCACTGACCCACCTCCACCTCCACTGCCCCATCCAGCCCTGAGCCGGCATCTGCCCTACTTTGCAGATGTTAGGGACATACTCAAGGCCACCTCCCTGGCTGCTGGCCCAAGCTGGCTGAGCTGGCTAATACACGAGGCCTTCCCTTCTTCCTAGAAACAGGGGGCAGCTTTGGTGCCCCCAAGGACAGACGCTTCTGCAAGGAGAAAGCTTAGCATGTGTCTGCCAAATGCCCCGCTGGGCCAGCTCTGCCCACCTCCTCACCTGCAGCGTGTAAAGATAAGGCAGCCAGACACAGTCGCCCCAGCCCAGGTACCACCCGAAGTGGTCATGGCAGATGTCAATGGTCTTCAGGTACCAGGTTTCGTTCCAGAAGAAGTCAATCACGTAGATGGCCTGCAAGACAGAAGCAGCCGCTGACCACCCCCGGCCCTCCTGGGGCCCCCATGGACCTCGGGGAAATCACACTCCACGCAGATGCAGCAGGGGGTGCTCGGGAGCTGCTCAGCAACTTCCTCAATGCTGGGGCTGTTCCTTCCCTGCGGCTGGGGCTGTTCCTGCCTGGGTCATGGGCAGGGCTAAGGGCTTCCTTGTCCTCAGAACCACCCCGAGCCCATGGCCCTGGCATCTCTCCCAGCCCAGGTTCTCAGGGCTTGCAATGGCGCGTGCCAAGGGGAAGGGATACATTCATCCCATCCAGGTCAACCTCCTGCCCGAGCAACGTCCACAGCTCCTGACAGGCCTCCCTCACCCTCTCGGGTTCTCCTAGCCAGCTCCCGCTGGCTCCCTGGGTGACGCTTCCGAATGCACCTGATCGCTGCCACCCTGCACCCCAGCTCAGCACACACTTTCTGGGTCTTGCTGCTTTTAAGATAAAGAGGAAGACTTCCATGAGGCCTCCAGCCTCACCTGGCTCTGAGCTCCTGAACGCTCTCTGGTCAGGATGCGGGATGTTTCTGAGTGTCCCAGACTTGCCACCCTCTCTCCCTACAGGGGGTTCCTGGAGCATGCACTCTTGCCTCCACTCTACCAGGTTAACTCCCACACACCCCCAGATTCTACCCAGGTGTAATCCCCAAGGGAGACCTTCCTGGACCACGCCTGGCTGCGTAGAACCTGCCTCCTCCCCTCCCAGGGCTGGCAGAGACAGGCACCCAAGGATGGCTTCCTTCACCAAGTGCTCGCCGGCTGCTTCCTGGTGACACCTGGGGAGGGCAGCTGACTCTCTTTTACAAGCAGTAGATTAAGGTCATGGGAATACGCTCTGGCTTGCGGGTTCCCCCAGAGCCTGCCGGCATCGGCGTTTCACCCTCTCCAGCCATGACAGGCACCTGCAGGACGTTGACCAGGACCATGGCATTGGTCACATGGCTGTGGAGCTCCCGCTGCTTCGCTGCGAAGGACAGGTTGATGAGGGTCCAGGCGACGATCCCGGGGCGCCCATTGAAGAACAGCTTGAAGTCAAACCACTTCCCGATCCGAGGGTTAAACTCGATGCCCATCATGTAGTTGTAAAAGAAATTGCCTGTGAATTTGCTTAAAAATATAAATAAAAGATACATTTAGTGGATGAGCATATCTCACAAGATGAAGCCACCTTACTTAGCGAGAGCCCAGCACTGGCCCAGGGTCCTAAAGGGTAACGTGAGACGGCGCAGGCAGAAGCTGGCCATGAGCCGCTGGGACCCCCACGGCTGGAATGCTTGTCGGCTGGTTCCTGGCGCCCTCATTCACTTTGCTTTGCATTCAGCTGCTGCTCAGCAGAGACTTCCTTAGGCAGAAGCCCAGGGGCACCTGCTCTGCACCCGGGAAGGGTGGGAGACCGGCCCTGGGCTGGTACCTGGGTTTCTCTCTACCCTTCTCCAGATGCCCTTGACGCATGGCACAGGTGAGCTGAAGAACTGGCTTGATTGCACTGAGATTACGTTCTGGGGCCCAAGCACACGGTTTGAAGCCGACGCAGGGCACGTGGGCCCTCATGGGTGAGTGACATTATAAATCACGCCAACGTAGAGAATGACAAACGCACCCTGGGCCCGGCTTCCAGCATGTGCAGGACAAGTTCTTTGACCAGTTACCTGAATCCCCCAATCCCCGGAGGGCCAGAGCATCAGCCGAGATAACCCCTGTGGAGACCCTGACTAGGTCTAGCTGGCTGAGGACACACAACAATTTCTGTGTTAACTAGAAAATCCTATTTTCATGTCCAGTTCCCTCAGGTAGGGTAAGTAGAAAGAAGCAAAACACACAAAGTCTACATGATTATAAGGTAGCGAGGATGATTTCCAGGAGCCATTGAAGGCCAGCCTCGTTATCTGATAACACACAAGCTACAAAGTGTCATCCTCCA
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GTGGACAGCTGCACGGGGTGGTACACCAAGTACAGACCCTGGGGGGCGAGGGGGAAGGGGTCAAGCGGTGCTTTGCCCAGGGAGAGGACAGGAGTGTGGGCTCGGGGGCCCAGCGGCCTGGGGTCAAACCCCAGCTCTGCCTCTGACACACGCCTTGCCTCCGTGTTCTCTTCTGTGAATAAAAGCACCAACCTTGAGGGCTGTTGTGGTCATTAAATGAGTAACTCTACCTGCCTTCTACCTGTCTGTGTGTGTATGTGTGTGTGTATATATACCCCCTATATATATGACATATAGCATAAACATCAAATATGTAACAGTATTAAAAATATAATCTGAATTTAATATTGTGATGGTCAATTTAACGTGTCCACTTGGCCAGGCCATTGTTCCCAGATATTTGGTCAAACACTAGTTGTAAAGGCATTTTTCAGATGAGGTTCATATGTTAATCAGTCAACCAGGCAGAGTGGATGACCCTTCACAATGGGGGTGGGCCTCATCCAATCAGTTGACAGCTTTAAGAGACAGAAGACCCACCTTCCCCAAAGAAGAGGGAATCTGCTAAAAAGTGGCCTTCTGGCCATGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTTGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGGCGTGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCTAGCCTGTGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAGTGACCTTCTATTTAAGCACAGCATCAACTCTTCCCTGGGGCTCCAGGCTGCCCTGAAGATCTTGGACTTGTCACTCTTCAATCACATGAGTTGAAAAATACATCTCTTTCTTACACGTATACCCTCCACCCCTCTATTGATTCTGCTTCTTGGGAGAAACCTAATATATAGTATAAAAAATGTACATCTCGAGACACACACAGAGGCTAAAGCAAGTAAGAGCTATTATATAGTGGGACCTATTGCTACGTTTTCACATCCTTGGAAAATGGAGTTTATAAAACCAGGGAACCAGCAGACCTGCAGCCAGCCAGGTGGAGAAATGGGGCCGGGTGGGCCATGCGGGGGGCTCCAAGGACCTGGTGTGAGCATGGGGCCAGCTGGGGCTCTGCACCCTCCACCTGGTACTGGCCCCCTCTGCTGTGGGAATCCTGGTTTTCCAGGACACCCGCACCTCCATCCCACAGGACTGGCTGTCACAGGTGATGCCGGGCCTGTCACATCCTGAATAGGTGACAGCCTCTCCACGTTGGTTCTCTCCACTTGGGCACAGCCTCTTGGGGCAGGCCACCCCACCGTTCTGCTAAGCAAGTGCCCTGGGGTGAGTTATTTCTGTCCCCAGGGGGCTCGTTGCTCTTGAAATGGGCAGGTGGCATCTGGTCAAGCAGCCACCTTACCTGGGAGCCCAGCACTCTCCCCAAATCAGAGCAGGGCTGCTCTCGTTGAGCTGGGAGGGGAGTGGGGGGCTTGATGCCAATGACAAGGCCACTTGCTATCCCCTACTGTCCTGGAACTCCCAGGGCAGCCCTGCCCCAGTGCCCAGCACATCCTAGGAGGCAGGAATGAAGAGGACCCCTCCTGCCAGTGCCCGCACTGACCCACCTCCACCTCCACTGCCCCATCCAGCCCTGAGCCGGCATCTGCCCTACTTTGCAGATGTTAGGGACATACTCAAGGCCACCTCCCTGGCTGCTGGCCCAAGCTGGCTGAGCTGGCTAATACACGAGGCCTTCCCTTCTTCCTAGAAACAGGGGGCAGCTTTGGTGCCCCCAAGGACAGACGCTTCTGCAAGGAGAAAGCTTAGCATGTGTCTGCCAAATGCCCCGCTGGGCCAGCTCTGCCCACCTCCTCACCTGCAGCGTGTAAAGATAAGGCAGCCAGACACAGTCGCTCCAGCCCAGGTACCACCCGAAGTGGTCATGGCAGATGTCAATGGTCTTCAGGTACCAGGTTTCGTTCCAGAAGAAGTCAATCACGTAGATGGCCTGCAAGACAGAAGCAGCCGCTGACCACCCCCGGCCCTCCTGGGGCCCCCATGGACCTCGGGGAAATCACACTCCACGCAGATGCAGCAGGGGGTGCTCGGGAGCTGCTCAGCAACTTCCTCAATGCTGGGGCTGTTCCTTCCCTGCGGCTGGGGCTGTTCCTGCCTGGGTCATGGGCAGGGCTAAGGGCTTCCTTGTCCTCAGAACCACCCCGAGCCCATGGCCCTGGCATCTCTCCCAGCCCAGGTTCTCAGGGCTTGCAATGGCGCGTGCCAAGGGGAAGGGATACATTCATCCCATCCAGGTCAACCTCCTGCCCGAGCAACGTCCACAGCTCCTGACAGGCCTCCCTCACCCTCTCGGGTTCTCCTAGCCAGCTCCCGCTGGCTCCCTGGGTGACGCTTCCGAATGCACCTGATCGCTGCCACCCTGCACCCCAGCTCAGCACACACTTTCTGGGTCTTGCTGCTTTTAAGATAAAGAGGAAGACTTCCATGAGGCCTCCAGCCTCACCTGGCTCTGAGCTCCTGAACGCTCTCTGGTCAGGATGCGGGATGTTTCTGAGTGTCCCAGACTTGCCACCCTCTCTCCCTACAGGGGGTTCCTGGAGCATGCACTCTTGCCTCCACTCTACCAGGTTAACTCCCACACACCCCCAGATTCTACCCAGGTGTAATCCCCAAGGGAGACCTTCCTGGACCACGCCTGGCTGCGTAGAACCTGCCTCCTCCCCTCCCAGGGCTGGCAGAGACAGGCACCCAAGGATGGCTTCCTTCACCAAGTGCTCGCCGGCTGCTTCCTGGTGACACCTGGGGAGGGCAGCTGACTCTCTTTTACAAGCAGTAGATTAAGGTCATGGGAATACGCTCTGGCTTGCGGGTTCCCCCAGAGCCTGCCGGCATCGGCGTTTCACCCTCTCCAGCCATGACAGGCACCTGCAGGACGTTGACCAGGACCATGGCATTGGTCACATGGCTGTGGAGCTCCCGCTGCTTCGCTGCGAAGGACAGGTTGATGAGGGTCCAGGCGACGATCCCGGGGCGCCCATTGAAGAACAGCTTGAAGTCAAACCACTTCCCGATCCGAGGGTTAAACTCGATGCCCATCATGTAGTTGTAAAAGAAATTGCCTGTGAATTTGCTTAAAAATATAAATAAAAGATACATTTAGTGGATGAGCATATCTCACAAGATGAAGCCACCTTACTTAGCGAGAGCCCAGCACTGGCCCAGGGTCCTAAAGGGTAACGTGAGACGGCGCAGGCAGAAGCTGGCCATGAGCCGCTGGGACCCCCACGGCTGGAATGCTTGTCGGCTGGTTCCTGGCGCCCTCATTCACTTTGCTTTGCATTCAGCTGCTGCTCAGCAGAGACTTCCTTAGGCAGAAGCCCAGGGGCACCTGCTCTGCACCCGGGAAGGGTGGGAGACCGGCCCTGGGCTGGTACCTGGGTTTCTCTCTACCCTTCTCCAGATGCCCTTGACGCATGGCACAGGTGAGCTGAAGAACTGGCTTGATTGCACTGAGATTACGTTCTGGGGCCCAAGCACACGGTTTGAAGCCGACGCAGGGCACGTGGGCCCTCATGGGTGAGTGACATTATAAATCACGCCAACGTAGAGAATGACAAACGCACCCTGGGCCCGGCTTCCAGCATGTGCAGGACAAGTTCTTTGACCAGTTACCTGAATCCCCCAATCCCCGGAGGGCCAGAGCATCAGCCGAGATAACCCCTGTGGAGACCCTGACTAGGTCTAGCTGGCTGAGGACACACAACAATTTCTGTGTTAACTAGAAAATCCTATTTTCATGTCCAGTTCCCTCAGGTAGGGTAAGTAGAAAGAAGCAAAACACACAAAGTCTACATGATTATAAGGTAGCGAGGATGATTTCCAGGAGCCATTGAAGGCCAGCCTCGTTATCTGATAACACACAAGCTACAAAGTGTCATCCTCCA
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Task1_train_16250
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A variant was discovered on Chromosome 11, affecting DHCR7 (7-dehydrocholesterol reductase). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Smith-Lemli-Opitz syndrome
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CACCAAGTACAGACCCTGGGGGGCGAGGGGGAAGGGGTCAAGCGGTGCTTTGCCCAGGGAGAGGACAGGAGTGTGGGCTCGGGGGCCCAGCGGCCTGGGGTCAAACCCCAGCTCTGCCTCTGACACACGCCTTGCCTCCGTGTTCTCTTCTGTGAATAAAAGCACCAACCTTGAGGGCTGTTGTGGTCATTAAATGAGTAACTCTACCTGCCTTCTACCTGTCTGTGTGTGTATGTGTGTGTGTATATATACCCCCTATATATATGACATATAGCATAAACATCAAATATGTAACAGTATTAAAAATATAATCTGAATTTAATATTGTGATGGTCAATTTAACGTGTCCACTTGGCCAGGCCATTGTTCCCAGATATTTGGTCAAACACTAGTTGTAAAGGCATTTTTCAGATGAGGTTCATATGTTAATCAGTCAACCAGGCAGAGTGGATGACCCTTCACAATGGGGGTGGGCCTCATCCAATCAGTTGACAGCTTTAAGAGACAGAAGACCCACCTTCCCCAAAGAAGAGGGAATCTGCTAAAAAGTGGCCTTCTGGCCATGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTTGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGGCGTGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCTAGCCTGTGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAGTGACCTTCTATTTAAGCACAGCATCAACTCTTCCCTGGGGCTCCAGGCTGCCCTGAAGATCTTGGACTTGTCACTCTTCAATCACATGAGTTGAAAAATACATCTCTTTCTTACACGTATACCCTCCACCCCTCTATTGATTCTGCTTCTTGGGAGAAACCTAATATATAGTATAAAAAATGTACATCTCGAGACACACACAGAGGCTAAAGCAAGTAAGAGCTATTATATAGTGGGACCTATTGCTACGTTTTCACATCCTTGGAAAATGGAGTTTATAAAACCAGGGAACCAGCAGACCTGCAGCCAGCCAGGTGGAGAAATGGGGCCGGGTGGGCCATGCGGGGGGCTCCAAGGACCTGGTGTGAGCATGGGGCCAGCTGGGGCTCTGCACCCTCCACCTGGTACTGGCCCCCTCTGCTGTGGGAATCCTGGTTTTCCAGGACACCCGCACCTCCATCCCACAGGACTGGCTGTCACAGGTGATGCCGGGCCTGTCACATCCTGAATAGGTGACAGCCTCTCCACGTTGGTTCTCTCCACTTGGGCACAGCCTCTTGGGGCAGGCCACCCCACCGTTCTGCTAAGCAAGTGCCCTGGGGTGAGTTATTTCTGTCCCCAGGGGGCTCGTTGCTCTTGAAATGGGCAGGTGGCATCTGGTCAAGCAGCCACCTTACCTGGGAGCCCAGCACTCTCCCCAAATCAGAGCAGGGCTGCTCTCGTTGAGCTGGGAGGGGAGTGGGGGGCTTGATGCCAATGACAAGGCCACTTGCTATCCCCTACTGTCCTGGAACTCCCAGGGCAGCCCTGCCCCAGTGCCCAGCACATCCTAGGAGGCAGGAATGAAGAGGACCCCTCCTGCCAGTGCCCGCACTGACCCACCTCCACCTCCACTGCCCCATCCAGCCCTGAGCCGGCATCTGCCCTACTTTGCAGATGTTAGGGACATACTCAAGGCCACCTCCCTGGCTGCTGGCCCAAGCTGGCTGAGCTGGCTAATACACGAGGCCTTCCCTTCTTCCTAGAAACAGGGGGCAGCTTTGGTGCCCCCAAGGACAGACGCTTCTGCAAGGAGAAAGCTTAGCATGTGTCTGCCAAATGCCCCGCTGGGCCAGCTCTGCCCACCTCCTCACCTGCAGCGTGTAAAGATAAGGCAGCCAGACACAGTCGCCCCAGCCCAGGTACCACCCGAAGTGGTCATGGCAGATGTCAATGGTCTTCAGGTACCAGGTTTCGTTCCAGAAGAAGTCAATCACGTAGATGGCCTGCAAGACAGAAGCAGCCGCTGACCACCCCCGGCCCTCCTGGGGCCCCCATGGACCTCGGGGAAATCACACTCCACGCAGATGCAGCAGGGGGTGCTCGGGAGCTGCTCAGCAACTTCCTCAATGCTGGGGCTGTTCCTTCCCTGCGGCTGGGGCTGTTCCTGCCTGGGTCATGGGCAGGGCTAAGGGCTTCCTTGTCCTCAGAACCACCCCGAGCCCATGGCCCTGGCATCTCTCCCAGCCCAGGTTCTCAGGGCTTGCAATGGCGCGTGCCAAGGGGAAGGGATACATTCATCCCATCCAGGTCAACCTCCTGCCCGAGCAACGTCCACAGCTCCTGACAGGCCTCCCTCACCCTCTCGGGTTCTCCTAGCCAGCTCCCGCTGGCTCCCTGGGTGACGCTTCCGAATGCACCTGATCGCTGCCACCCTGCACCCCAGCTCAGCACACACTTTCTGGGTCTTGCTGCTTTTAAGATAAAGAGGAAGACTTCCATGAGGCCTCCAGCCTCACCTGGCTCTGAGCTCCTGAACGCTCTCTGGTCAGGATGCGGGATGTTTCTGAGTGTCCCAGACTTGCCACCCTCTCTCCCTACAGGGGGTTCCTGGAGCATGCACTCTTGCCTCCACTCTACCAGGTTAACTCCCACACACCCCCAGATTCTACCCAGGTGTAATCCCCAAGGGAGACCTTCCTGGACCACGCCTGGCTGCGTAGAACCTGCCTCCTCCCCTCCCAGGGCTGGCAGAGACAGGCACCCAAGGATGGCTTCCTTCACCAAGTGCTCGCCGGCTGCTTCCTGGTGACACCTGGGGAGGGCAGCTGACTCTCTTTTACAAGCAGTAGATTAAGGTCATGGGAATACGCTCTGGCTTGCGGGTTCCCCCAGAGCCTGCCGGCATCGGCGTTTCACCCTCTCCAGCCATGACAGGCACCTGCAGGACGTTGACCAGGACCATGGCATTGGTCACATGGCTGTGGAGCTCCCGCTGCTTCGCTGCGAAGGACAGGTTGATGAGGGTCCAGGCGACGATCCCGGGGCGCCCATTGAAGAACAGCTTGAAGTCAAACCACTTCCCGATCCGAGGGTTAAACTCGATGCCCATCATGTAGTTGTAAAAGAAATTGCCTGTGAATTTGCTTAAAAATATAAATAAAAGATACATTTAGTGGATGAGCATATCTCACAAGATGAAGCCACCTTACTTAGCGAGAGCCCAGCACTGGCCCAGGGTCCTAAAGGGTAACGTGAGACGGCGCAGGCAGAAGCTGGCCATGAGCCGCTGGGACCCCCACGGCTGGAATGCTTGTCGGCTGGTTCCTGGCGCCCTCATTCACTTTGCTTTGCATTCAGCTGCTGCTCAGCAGAGACTTCCTTAGGCAGAAGCCCAGGGGCACCTGCTCTGCACCCGGGAAGGGTGGGAGACCGGCCCTGGGCTGGTACCTGGGTTTCTCTCTACCCTTCTCCAGATGCCCTTGACGCATGGCACAGGTGAGCTGAAGAACTGGCTTGATTGCACTGAGATTACGTTCTGGGGCCCAAGCACACGGTTTGAAGCCGACGCAGGGCACGTGGGCCCTCATGGGTGAGTGACATTATAAATCACGCCAACGTAGAGAATGACAAACGCACCCTGGGCCCGGCTTCCAGCATGTGCAGGACAAGTTCTTTGACCAGTTACCTGAATCCCCCAATCCCCGGAGGGCCAGAGCATCAGCCGAGATAACCCCTGTGGAGACCCTGACTAGGTCTAGCTGGCTGAGGACACACAACAATTTCTGTGTTAACTAGAAAATCCTATTTTCATGTCCAGTTCCCTCAGGTAGGGTAAGTAGAAAGAAGCAAAACACACAAAGTCTACATGATTATAAGGTAGCGAGGATGATTTCCAGGAGCCATTGAAGGCCAGCCTCGTTATCTGATAACACACAAGCTACAAAGTGTCATCCTCCAGAAACATTTCCCAAGAGCCTAGG
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CACCAAGTACAGACCCTGGGGGGCGAGGGGGAAGGGGTCAAGCGGTGCTTTGCCCAGGGAGAGGACAGGAGTGTGGGCTCGGGGGCCCAGCGGCCTGGGGTCAAACCCCAGCTCTGCCTCTGACACACGCCTTGCCTCCGTGTTCTCTTCTGTGAATAAAAGCACCAACCTTGAGGGCTGTTGTGGTCATTAAATGAGTAACTCTACCTGCCTTCTACCTGTCTGTGTGTGTATGTGTGTGTGTATATATACCCCCTATATATATGACATATAGCATAAACATCAAATATGTAACAGTATTAAAAATATAATCTGAATTTAATATTGTGATGGTCAATTTAACGTGTCCACTTGGCCAGGCCATTGTTCCCAGATATTTGGTCAAACACTAGTTGTAAAGGCATTTTTCAGATGAGGTTCATATGTTAATCAGTCAACCAGGCAGAGTGGATGACCCTTCACAATGGGGGTGGGCCTCATCCAATCAGTTGACAGCTTTAAGAGACAGAAGACCCACCTTCCCCAAAGAAGAGGGAATCTGCTAAAAAGTGGCCTTCTGGCCATGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTTGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGGCGTGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCTAGCCTGTGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAGTGACCTTCTATTTAAGCACAGCATCAACTCTTCCCTGGGGCTCCAGGCTGCCCTGAAGATCTTGGACTTGTCACTCTTCAATCACATGAGTTGAAAAATACATCTCTTTCTTACACGTATACCCTCCACCCCTCTATTGATTCTGCTTCTTGGGAGAAACCTAATATATAGTATAAAAAATGTACATCTCGAGACACACACAGAGGCTAAAGCAAGTAAGAGCTATTATATAGTGGGACCTATTGCTACGTTTTCACATCCTTGGAAAATGGAGTTTATAAAACCAGGGAACCAGCAGACCTGCAGCCAGCCAGGTGGAGAAATGGGGCCGGGTGGGCCATGCGGGGGGCTCCAAGGACCTGGTGTGAGCATGGGGCCAGCTGGGGCTCTGCACCCTCCACCTGGTACTGGCCCCCTCTGCTGTGGGAATCCTGGTTTTCCAGGACACCCGCACCTCCATCCCACAGGACTGGCTGTCACAGGTGATGCCGGGCCTGTCACATCCTGAATAGGTGACAGCCTCTCCACGTTGGTTCTCTCCACTTGGGCACAGCCTCTTGGGGCAGGCCACCCCACCGTTCTGCTAAGCAAGTGCCCTGGGGTGAGTTATTTCTGTCCCCAGGGGGCTCGTTGCTCTTGAAATGGGCAGGTGGCATCTGGTCAAGCAGCCACCTTACCTGGGAGCCCAGCACTCTCCCCAAATCAGAGCAGGGCTGCTCTCGTTGAGCTGGGAGGGGAGTGGGGGGCTTGATGCCAATGACAAGGCCACTTGCTATCCCCTACTGTCCTGGAACTCCCAGGGCAGCCCTGCCCCAGTGCCCAGCACATCCTAGGAGGCAGGAATGAAGAGGACCCCTCCTGCCAGTGCCCGCACTGACCCACCTCCACCTCCACTGCCCCATCCAGCCCTGAGCCGGCATCTGCCCTACTTTGCAGATGTTAGGGACATACTCAAGGCCACCTCCCTGGCTGCTGGCCCAAGCTGGCTGAGCTGGCTAATACACGAGGCCTTCCCTTCTTCCTAGAAACAGGGGGCAGCTTTGGTGCCCCCAAGGACAGACGCTTCTGCAAGGAGAAAGCTTAGCATGTGTCTGCCAAATGCCCCGCTGGGCCAGCTCTGCCCACCTCCTCACCTGCAGCGTGTAAAGATAAGGCAGCCAGACACAGTCGCCCCAGCCCAGGTACCACCCGAAGCGGTCATGGCAGATGTCAATGGTCTTCAGGTACCAGGTTTCGTTCCAGAAGAAGTCAATCACGTAGATGGCCTGCAAGACAGAAGCAGCCGCTGACCACCCCCGGCCCTCCTGGGGCCCCCATGGACCTCGGGGAAATCACACTCCACGCAGATGCAGCAGGGGGTGCTCGGGAGCTGCTCAGCAACTTCCTCAATGCTGGGGCTGTTCCTTCCCTGCGGCTGGGGCTGTTCCTGCCTGGGTCATGGGCAGGGCTAAGGGCTTCCTTGTCCTCAGAACCACCCCGAGCCCATGGCCCTGGCATCTCTCCCAGCCCAGGTTCTCAGGGCTTGCAATGGCGCGTGCCAAGGGGAAGGGATACATTCATCCCATCCAGGTCAACCTCCTGCCCGAGCAACGTCCACAGCTCCTGACAGGCCTCCCTCACCCTCTCGGGTTCTCCTAGCCAGCTCCCGCTGGCTCCCTGGGTGACGCTTCCGAATGCACCTGATCGCTGCCACCCTGCACCCCAGCTCAGCACACACTTTCTGGGTCTTGCTGCTTTTAAGATAAAGAGGAAGACTTCCATGAGGCCTCCAGCCTCACCTGGCTCTGAGCTCCTGAACGCTCTCTGGTCAGGATGCGGGATGTTTCTGAGTGTCCCAGACTTGCCACCCTCTCTCCCTACAGGGGGTTCCTGGAGCATGCACTCTTGCCTCCACTCTACCAGGTTAACTCCCACACACCCCCAGATTCTACCCAGGTGTAATCCCCAAGGGAGACCTTCCTGGACCACGCCTGGCTGCGTAGAACCTGCCTCCTCCCCTCCCAGGGCTGGCAGAGACAGGCACCCAAGGATGGCTTCCTTCACCAAGTGCTCGCCGGCTGCTTCCTGGTGACACCTGGGGAGGGCAGCTGACTCTCTTTTACAAGCAGTAGATTAAGGTCATGGGAATACGCTCTGGCTTGCGGGTTCCCCCAGAGCCTGCCGGCATCGGCGTTTCACCCTCTCCAGCCATGACAGGCACCTGCAGGACGTTGACCAGGACCATGGCATTGGTCACATGGCTGTGGAGCTCCCGCTGCTTCGCTGCGAAGGACAGGTTGATGAGGGTCCAGGCGACGATCCCGGGGCGCCCATTGAAGAACAGCTTGAAGTCAAACCACTTCCCGATCCGAGGGTTAAACTCGATGCCCATCATGTAGTTGTAAAAGAAATTGCCTGTGAATTTGCTTAAAAATATAAATAAAAGATACATTTAGTGGATGAGCATATCTCACAAGATGAAGCCACCTTACTTAGCGAGAGCCCAGCACTGGCCCAGGGTCCTAAAGGGTAACGTGAGACGGCGCAGGCAGAAGCTGGCCATGAGCCGCTGGGACCCCCACGGCTGGAATGCTTGTCGGCTGGTTCCTGGCGCCCTCATTCACTTTGCTTTGCATTCAGCTGCTGCTCAGCAGAGACTTCCTTAGGCAGAAGCCCAGGGGCACCTGCTCTGCACCCGGGAAGGGTGGGAGACCGGCCCTGGGCTGGTACCTGGGTTTCTCTCTACCCTTCTCCAGATGCCCTTGACGCATGGCACAGGTGAGCTGAAGAACTGGCTTGATTGCACTGAGATTACGTTCTGGGGCCCAAGCACACGGTTTGAAGCCGACGCAGGGCACGTGGGCCCTCATGGGTGAGTGACATTATAAATCACGCCAACGTAGAGAATGACAAACGCACCCTGGGCCCGGCTTCCAGCATGTGCAGGACAAGTTCTTTGACCAGTTACCTGAATCCCCCAATCCCCGGAGGGCCAGAGCATCAGCCGAGATAACCCCTGTGGAGACCCTGACTAGGTCTAGCTGGCTGAGGACACACAACAATTTCTGTGTTAACTAGAAAATCCTATTTTCATGTCCAGTTCCCTCAGGTAGGGTAAGTAGAAAGAAGCAAAACACACAAAGTCTACATGATTATAAGGTAGCGAGGATGATTTCCAGGAGCCATTGAAGGCCAGCCTCGTTATCTGATAACACACAAGCTACAAAGTGTCATCCTCCAGAAACATTTCCCAAGAGCCTAGG
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Task1_train_16251
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A mutation on Chromosome 11 affecting DHCR7 (7-dehydrocholesterol reductase) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Smith-Lemli-Opitz syndrome
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TAATATATAGTATAAAAAATGTACATCTCGAGACACACACAGAGGCTAAAGCAAGTAAGAGCTATTATATAGTGGGACCTATTGCTACGTTTTCACATCCTTGGAAAATGGAGTTTATAAAACCAGGGAACCAGCAGACCTGCAGCCAGCCAGGTGGAGAAATGGGGCCGGGTGGGCCATGCGGGGGGCTCCAAGGACCTGGTGTGAGCATGGGGCCAGCTGGGGCTCTGCACCCTCCACCTGGTACTGGCCCCCTCTGCTGTGGGAATCCTGGTTTTCCAGGACACCCGCACCTCCATCCCACAGGACTGGCTGTCACAGGTGATGCCGGGCCTGTCACATCCTGAATAGGTGACAGCCTCTCCACGTTGGTTCTCTCCACTTGGGCACAGCCTCTTGGGGCAGGCCACCCCACCGTTCTGCTAAGCAAGTGCCCTGGGGTGAGTTATTTCTGTCCCCAGGGGGCTCGTTGCTCTTGAAATGGGCAGGTGGCATCTGGTCAAGCAGCCACCTTACCTGGGAGCCCAGCACTCTCCCCAAATCAGAGCAGGGCTGCTCTCGTTGAGCTGGGAGGGGAGTGGGGGGCTTGATGCCAATGACAAGGCCACTTGCTATCCCCTACTGTCCTGGAACTCCCAGGGCAGCCCTGCCCCAGTGCCCAGCACATCCTAGGAGGCAGGAATGAAGAGGACCCCTCCTGCCAGTGCCCGCACTGACCCACCTCCACCTCCACTGCCCCATCCAGCCCTGAGCCGGCATCTGCCCTACTTTGCAGATGTTAGGGACATACTCAAGGCCACCTCCCTGGCTGCTGGCCCAAGCTGGCTGAGCTGGCTAATACACGAGGCCTTCCCTTCTTCCTAGAAACAGGGGGCAGCTTTGGTGCCCCCAAGGACAGACGCTTCTGCAAGGAGAAAGCTTAGCATGTGTCTGCCAAATGCCCCGCTGGGCCAGCTCTGCCCACCTCCTCACCTGCAGCGTGTAAAGATAAGGCAGCCAGACACAGTCGCCCCAGCCCAGGTACCACCCGAAGTGGTCATGGCAGATGTCAATGGTCTTCAGGTACCAGGTTTCGTTCCAGAAGAAGTCAATCACGTAGATGGCCTGCAAGACAGAAGCAGCCGCTGACCACCCCCGGCCCTCCTGGGGCCCCCATGGACCTCGGGGAAATCACACTCCACGCAGATGCAGCAGGGGGTGCTCGGGAGCTGCTCAGCAACTTCCTCAATGCTGGGGCTGTTCCTTCCCTGCGGCTGGGGCTGTTCCTGCCTGGGTCATGGGCAGGGCTAAGGGCTTCCTTGTCCTCAGAACCACCCCGAGCCCATGGCCCTGGCATCTCTCCCAGCCCAGGTTCTCAGGGCTTGCAATGGCGCGTGCCAAGGGGAAGGGATACATTCATCCCATCCAGGTCAACCTCCTGCCCGAGCAACGTCCACAGCTCCTGACAGGCCTCCCTCACCCTCTCGGGTTCTCCTAGCCAGCTCCCGCTGGCTCCCTGGGTGACGCTTCCGAATGCACCTGATCGCTGCCACCCTGCACCCCAGCTCAGCACACACTTTCTGGGTCTTGCTGCTTTTAAGATAAAGAGGAAGACTTCCATGAGGCCTCCAGCCTCACCTGGCTCTGAGCTCCTGAACGCTCTCTGGTCAGGATGCGGGATGTTTCTGAGTGTCCCAGACTTGCCACCCTCTCTCCCTACAGGGGGTTCCTGGAGCATGCACTCTTGCCTCCACTCTACCAGGTTAACTCCCACACACCCCCAGATTCTACCCAGGTGTAATCCCCAAGGGAGACCTTCCTGGACCACGCCTGGCTGCGTAGAACCTGCCTCCTCCCCTCCCAGGGCTGGCAGAGACAGGCACCCAAGGATGGCTTCCTTCACCAAGTGCTCGCCGGCTGCTTCCTGGTGACACCTGGGGAGGGCAGCTGACTCTCTTTTACAAGCAGTAGATTAAGGTCATGGGAATACGCTCTGGCTTGCGGGTTCCCCCAGAGCCTGCCGGCATCGGCGTTTCACCCTCTCCAGCCATGACAGGCACCTGCAGGACGTTGACCAGGACCATGGCATTGGTCACATGGCTGTGGAGCTCCCGCTGCTTCGCTGCGAAGGACAGGTTGATGAGGGTCCAGGCGACGATCCCGGGGCGCCCATTGAAGAACAGCTTGAAGTCAAACCACTTCCCGATCCGAGGGTTAAACTCGATGCCCATCATGTAGTTGTAAAAGAAATTGCCTGTGAATTTGCTTAAAAATATAAATAAAAGATACATTTAGTGGATGAGCATATCTCACAAGATGAAGCCACCTTACTTAGCGAGAGCCCAGCACTGGCCCAGGGTCCTAAAGGGTAACGTGAGACGGCGCAGGCAGAAGCTGGCCATGAGCCGCTGGGACCCCCACGGCTGGAATGCTTGTCGGCTGGTTCCTGGCGCCCTCATTCACTTTGCTTTGCATTCAGCTGCTGCTCAGCAGAGACTTCCTTAGGCAGAAGCCCAGGGGCACCTGCTCTGCACCCGGGAAGGGTGGGAGACCGGCCCTGGGCTGGTACCTGGGTTTCTCTCTACCCTTCTCCAGATGCCCTTGACGCATGGCACAGGTGAGCTGAAGAACTGGCTTGATTGCACTGAGATTACGTTCTGGGGCCCAAGCACACGGTTTGAAGCCGACGCAGGGCACGTGGGCCCTCATGGGTGAGTGACATTATAAATCACGCCAACGTAGAGAATGACAAACGCACCCTGGGCCCGGCTTCCAGCATGTGCAGGACAAGTTCTTTGACCAGTTACCTGAATCCCCCAATCCCCGGAGGGCCAGAGCATCAGCCGAGATAACCCCTGTGGAGACCCTGACTAGGTCTAGCTGGCTGAGGACACACAACAATTTCTGTGTTAACTAGAAAATCCTATTTTCATGTCCAGTTCCCTCAGGTAGGGTAAGTAGAAAGAAGCAAAACACACAAAGTCTACATGATTATAAGGTAGCGAGGATGATTTCCAGGAGCCATTGAAGGCCAGCCTCGTTATCTGATAACACACAAGCTACAAAGTGTCATCCTCCAGAAACATTTCCCAAGAGCCTAGGTGTAAACCACACTGGGGTTTTTTGGATCCCCCAAACTGAACTGTAAGTCCCACTGCCTACAACTGTCCACAAGAGAACCCCCCAAACATTGGTTTATGATGGATGGATGGATAGATAACAGGGTGAGTGGGTGGAAGGATGGATGAATGGGATGGGGAGAGGAGCAGGTGGATGGATATATGATAGGCAGGGTTGAGCTGGGGTGCAGGGTGGCAGGGATCAGGTGTGTTCAGAAGTGTCACCCAGGAAGCCAGAGGGAGCAGGCTAGGAGGGCCTGAGAGGGTAAGGGAGGCCGGTCAGGAGCTGCGGACATTGCTCAGGCAGGAGGTTGACCTGGATGAGATGATGCATTCCTTCCCCTCGGCACATGCCATTACAGGCCCTGATAGAGTGGATGGATGGGTAAATGGATGGATGACGGGCAGGTGGATGGGTGGGTGGCTAGATGTGTAGGTGGGTGGGTAGGTGGATAGGTGGATGGACAAATAGATGACGGGTGGGTAGACAGACGGGGTGGAGGGTGGATGGGCAGGTGGATGAGATGGATGATGGATGGGTGGGTGGGTAGGTGGAAGGATGGGGAGATGGGCAGGTGGATGGGTGTGTGGCTAGATGTGTAGGTGGGTGGGTAGGTGGATGGGCAGATGGATGAATGGGTGATGGGAGGGTAGATGGATGGATGATGGGTGGGTGGATGTGGGTGATGGATAGGTGGATGGATGATGCATTGGTGGGTGGGTGAATGGGATGGGGCAATGGGTAGGTGGATGATGGGTGAGTAGGTAGATGAATGGGTAGGGGGGTGGATGGGTGGGTGGGGAGATGGGCAGGTGAATGGATGAGTGGACAGAGATGAGTGGCTCACCACTGTCCAGCCATGGGAATGGGTACAAGCCAGCAGGGCTCTCCTGGGAAGCTGTTAATTAAAGCCACAGGGACAATAAGACTCTTCACTAAGGTTGTTTTGGGCCTCACCAGCTTATCCAAAGAAAGAGGCAATGGGCTGCCTGTGCCC
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TAATATATAGTATAAAAAATGTACATCTCGAGACACACACAGAGGCTAAAGCAAGTAAGAGCTATTATATAGTGGGACCTATTGCTACGTTTTCACATCCTTGGAAAATGGAGTTTATAAAACCAGGGAACCAGCAGACCTGCAGCCAGCCAGGTGGAGAAATGGGGCCGGGTGGGCCATGCGGGGGGCTCCAAGGACCTGGTGTGAGCATGGGGCCAGCTGGGGCTCTGCACCCTCCACCTGGTACTGGCCCCCTCTGCTGTGGGAATCCTGGTTTTCCAGGACACCCGCACCTCCATCCCACAGGACTGGCTGTCACAGGTGATGCCGGGCCTGTCACATCCTGAATAGGTGACAGCCTCTCCACGTTGGTTCTCTCCACTTGGGCACAGCCTCTTGGGGCAGGCCACCCCACCGTTCTGCTAAGCAAGTGCCCTGGGGTGAGTTATTTCTGTCCCCAGGGGGCTCGTTGCTCTTGAAATGGGCAGGTGGCATCTGGTCAAGCAGCCACCTTACCTGGGAGCCCAGCACTCTCCCCAAATCAGAGCAGGGCTGCTCTCGTTGAGCTGGGAGGGGAGTGGGGGGCTTGATGCCAATGACAAGGCCACTTGCTATCCCCTACTGTCCTGGAACTCCCAGGGCAGCCCTGCCCCAGTGCCCAGCACATCCTAGGAGGCAGGAATGAAGAGGACCCCTCCTGCCAGTGCCCGCACTGACCCACCTCCACCTCCACTGCCCCATCCAGCCCTGAGCCGGCATCTGCCCTACTTTGCAGATGTTAGGGACATACTCAAGGCCACCTCCCTGGCTGCTGGCCCAAGCTGGCTGAGCTGGCTAATACACGAGGCCTTCCCTTCTTCCTAGAAACAGGGGGCAGCTTTGGTGCCCCCAAGGACAGACGCTTCTGCAAGGAGAAAGCTTAGCATGTGTCTGCCAAATGCCCCGCTGGGCCAGCTCTGCCCACCTCCTCACCTGCAGCGTGTAAAGATAAGGCAGCCAGACACAGTCGCCCCAGCCCAGGTACCACCCGAAGTGGTCATGGCAGATGTCAATGGTCTTCAGGTACCAGGTTTCGTTCCAGAAGAAGTCAATCACGTAGATGGCCTGCAAGACAGAAGCAGCCGCTGACCACCCCCGGCCCTCCTGGGGCCCCCATGGACCTCGGGGAAATCACACTCCACGCAGATGCAGCAGGGGGTGCTCGGGAGCTGCTCAGCAACTTCCTCAATGCTGGGGCTGTTCCTTCCCTGCGGCTGGGGCTGTTCCTGCCTGGGTCATGGGCAGGGCTAAGGGCTTCCTTGTCCTCAGAACCACCCCGAGCCCATGGCCCTGGCATCTCTCCCAGCCCAGGTTCTCAGGGCTTGCAATGGCGCGTGCCAAGGGGAAGGGATACATTCATCCCATCCAGGTCAACCTCCTGCCCGAGCAACGTCCACAGCTCCTGACAGGCCTCCCTCACCCTCTCGGGTTCTCCTAGCCAGCTCCCGCTGGCTCCCTGGGTGACGCTTCCGAATGCACCTGATCGCTGCCACCCTGCACCCCAGCTCAGCACACACTTTCTGGGTCTTGCTGCTTTTAAGATAAAGAGGAAGACTTCCATGAGGCCTCCAGCCTCACCTGGCTCTGAGCTCCTGAACGCTCTCTGGTCAGGATGCGGGATGTTTCTGAGTGTCCCAGACTTGCCACCCTCTCTCCCTACAGGGGGTTCCTGGAGCATGCACTCTTGCCTCCACTCTACCAGGTTAACTCCCACACACCCCCAGATTCTACCCAGGTGTAATCCCCAAGGGAGACCTTCCTGGACCACGCCTGGCTGCGTAGAACCTGCCTCCTCCCCTCCCAGGGCTGGCAGAGACAGGCACCCAAGGATGGCTTCCTTCACCAAGTGCTCGCCGGCTGCTTCCTGGTGACACCTGGGGAGGGCAGCTGACTCTCTTTTACAAGCAGTAGATTAAGGTCATGGGAATACGCTCTGGCTTGCGGGTTCCCCCAGAGCCTGCCGGCATCGGCGTTTCACCCTCTCCAGCCATGACAGGCACCTGCAGGACTTTGACCAGGACCATGGCATTGGTCACATGGCTGTGGAGCTCCCGCTGCTTCGCTGCGAAGGACAGGTTGATGAGGGTCCAGGCGACGATCCCGGGGCGCCCATTGAAGAACAGCTTGAAGTCAAACCACTTCCCGATCCGAGGGTTAAACTCGATGCCCATCATGTAGTTGTAAAAGAAATTGCCTGTGAATTTGCTTAAAAATATAAATAAAAGATACATTTAGTGGATGAGCATATCTCACAAGATGAAGCCACCTTACTTAGCGAGAGCCCAGCACTGGCCCAGGGTCCTAAAGGGTAACGTGAGACGGCGCAGGCAGAAGCTGGCCATGAGCCGCTGGGACCCCCACGGCTGGAATGCTTGTCGGCTGGTTCCTGGCGCCCTCATTCACTTTGCTTTGCATTCAGCTGCTGCTCAGCAGAGACTTCCTTAGGCAGAAGCCCAGGGGCACCTGCTCTGCACCCGGGAAGGGTGGGAGACCGGCCCTGGGCTGGTACCTGGGTTTCTCTCTACCCTTCTCCAGATGCCCTTGACGCATGGCACAGGTGAGCTGAAGAACTGGCTTGATTGCACTGAGATTACGTTCTGGGGCCCAAGCACACGGTTTGAAGCCGACGCAGGGCACGTGGGCCCTCATGGGTGAGTGACATTATAAATCACGCCAACGTAGAGAATGACAAACGCACCCTGGGCCCGGCTTCCAGCATGTGCAGGACAAGTTCTTTGACCAGTTACCTGAATCCCCCAATCCCCGGAGGGCCAGAGCATCAGCCGAGATAACCCCTGTGGAGACCCTGACTAGGTCTAGCTGGCTGAGGACACACAACAATTTCTGTGTTAACTAGAAAATCCTATTTTCATGTCCAGTTCCCTCAGGTAGGGTAAGTAGAAAGAAGCAAAACACACAAAGTCTACATGATTATAAGGTAGCGAGGATGATTTCCAGGAGCCATTGAAGGCCAGCCTCGTTATCTGATAACACACAAGCTACAAAGTGTCATCCTCCAGAAACATTTCCCAAGAGCCTAGGTGTAAACCACACTGGGGTTTTTTGGATCCCCCAAACTGAACTGTAAGTCCCACTGCCTACAACTGTCCACAAGAGAACCCCCCAAACATTGGTTTATGATGGATGGATGGATAGATAACAGGGTGAGTGGGTGGAAGGATGGATGAATGGGATGGGGAGAGGAGCAGGTGGATGGATATATGATAGGCAGGGTTGAGCTGGGGTGCAGGGTGGCAGGGATCAGGTGTGTTCAGAAGTGTCACCCAGGAAGCCAGAGGGAGCAGGCTAGGAGGGCCTGAGAGGGTAAGGGAGGCCGGTCAGGAGCTGCGGACATTGCTCAGGCAGGAGGTTGACCTGGATGAGATGATGCATTCCTTCCCCTCGGCACATGCCATTACAGGCCCTGATAGAGTGGATGGATGGGTAAATGGATGGATGACGGGCAGGTGGATGGGTGGGTGGCTAGATGTGTAGGTGGGTGGGTAGGTGGATAGGTGGATGGACAAATAGATGACGGGTGGGTAGACAGACGGGGTGGAGGGTGGATGGGCAGGTGGATGAGATGGATGATGGATGGGTGGGTGGGTAGGTGGAAGGATGGGGAGATGGGCAGGTGGATGGGTGTGTGGCTAGATGTGTAGGTGGGTGGGTAGGTGGATGGGCAGATGGATGAATGGGTGATGGGAGGGTAGATGGATGGATGATGGGTGGGTGGATGTGGGTGATGGATAGGTGGATGGATGATGCATTGGTGGGTGGGTGAATGGGATGGGGCAATGGGTAGGTGGATGATGGGTGAGTAGGTAGATGAATGGGTAGGGGGGTGGATGGGTGGGTGGGGAGATGGGCAGGTGAATGGATGAGTGGACAGAGATGAGTGGCTCACCACTGTCCAGCCATGGGAATGGGTACAAGCCAGCAGGGCTCTCCTGGGAAGCTGTTAATTAAAGCCACAGGGACAATAAGACTCTTCACTAAGGTTGTTTTGGGCCTCACCAGCTTATCCAAAGAAAGAGGCAATGGGCTGCCTGTGCCC
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Task1_train_16252
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A variant was discovered on Chromosome 11, affecting DHCR7 (7-dehydrocholesterol reductase). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Smith-Lemli-Opitz syndrome
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CTATTGCTACGTTTTCACATCCTTGGAAAATGGAGTTTATAAAACCAGGGAACCAGCAGACCTGCAGCCAGCCAGGTGGAGAAATGGGGCCGGGTGGGCCATGCGGGGGGCTCCAAGGACCTGGTGTGAGCATGGGGCCAGCTGGGGCTCTGCACCCTCCACCTGGTACTGGCCCCCTCTGCTGTGGGAATCCTGGTTTTCCAGGACACCCGCACCTCCATCCCACAGGACTGGCTGTCACAGGTGATGCCGGGCCTGTCACATCCTGAATAGGTGACAGCCTCTCCACGTTGGTTCTCTCCACTTGGGCACAGCCTCTTGGGGCAGGCCACCCCACCGTTCTGCTAAGCAAGTGCCCTGGGGTGAGTTATTTCTGTCCCCAGGGGGCTCGTTGCTCTTGAAATGGGCAGGTGGCATCTGGTCAAGCAGCCACCTTACCTGGGAGCCCAGCACTCTCCCCAAATCAGAGCAGGGCTGCTCTCGTTGAGCTGGGAGGGGAGTGGGGGGCTTGATGCCAATGACAAGGCCACTTGCTATCCCCTACTGTCCTGGAACTCCCAGGGCAGCCCTGCCCCAGTGCCCAGCACATCCTAGGAGGCAGGAATGAAGAGGACCCCTCCTGCCAGTGCCCGCACTGACCCACCTCCACCTCCACTGCCCCATCCAGCCCTGAGCCGGCATCTGCCCTACTTTGCAGATGTTAGGGACATACTCAAGGCCACCTCCCTGGCTGCTGGCCCAAGCTGGCTGAGCTGGCTAATACACGAGGCCTTCCCTTCTTCCTAGAAACAGGGGGCAGCTTTGGTGCCCCCAAGGACAGACGCTTCTGCAAGGAGAAAGCTTAGCATGTGTCTGCCAAATGCCCCGCTGGGCCAGCTCTGCCCACCTCCTCACCTGCAGCGTGTAAAGATAAGGCAGCCAGACACAGTCGCCCCAGCCCAGGTACCACCCGAAGTGGTCATGGCAGATGTCAATGGTCTTCAGGTACCAGGTTTCGTTCCAGAAGAAGTCAATCACGTAGATGGCCTGCAAGACAGAAGCAGCCGCTGACCACCCCCGGCCCTCCTGGGGCCCCCATGGACCTCGGGGAAATCACACTCCACGCAGATGCAGCAGGGGGTGCTCGGGAGCTGCTCAGCAACTTCCTCAATGCTGGGGCTGTTCCTTCCCTGCGGCTGGGGCTGTTCCTGCCTGGGTCATGGGCAGGGCTAAGGGCTTCCTTGTCCTCAGAACCACCCCGAGCCCATGGCCCTGGCATCTCTCCCAGCCCAGGTTCTCAGGGCTTGCAATGGCGCGTGCCAAGGGGAAGGGATACATTCATCCCATCCAGGTCAACCTCCTGCCCGAGCAACGTCCACAGCTCCTGACAGGCCTCCCTCACCCTCTCGGGTTCTCCTAGCCAGCTCCCGCTGGCTCCCTGGGTGACGCTTCCGAATGCACCTGATCGCTGCCACCCTGCACCCCAGCTCAGCACACACTTTCTGGGTCTTGCTGCTTTTAAGATAAAGAGGAAGACTTCCATGAGGCCTCCAGCCTCACCTGGCTCTGAGCTCCTGAACGCTCTCTGGTCAGGATGCGGGATGTTTCTGAGTGTCCCAGACTTGCCACCCTCTCTCCCTACAGGGGGTTCCTGGAGCATGCACTCTTGCCTCCACTCTACCAGGTTAACTCCCACACACCCCCAGATTCTACCCAGGTGTAATCCCCAAGGGAGACCTTCCTGGACCACGCCTGGCTGCGTAGAACCTGCCTCCTCCCCTCCCAGGGCTGGCAGAGACAGGCACCCAAGGATGGCTTCCTTCACCAAGTGCTCGCCGGCTGCTTCCTGGTGACACCTGGGGAGGGCAGCTGACTCTCTTTTACAAGCAGTAGATTAAGGTCATGGGAATACGCTCTGGCTTGCGGGTTCCCCCAGAGCCTGCCGGCATCGGCGTTTCACCCTCTCCAGCCATGACAGGCACCTGCAGGACGTTGACCAGGACCATGGCATTGGTCACATGGCTGTGGAGCTCCCGCTGCTTCGCTGCGAAGGACAGGTTGATGAGGGTCCAGGCGACGATCCCGGGGCGCCCATTGAAGAACAGCTTGAAGTCAAACCACTTCCCGATCCGAGGGTTAAACTCGATGCCCATCATGTAGTTGTAAAAGAAATTGCCTGTGAATTTGCTTAAAAATATAAATAAAAGATACATTTAGTGGATGAGCATATCTCACAAGATGAAGCCACCTTACTTAGCGAGAGCCCAGCACTGGCCCAGGGTCCTAAAGGGTAACGTGAGACGGCGCAGGCAGAAGCTGGCCATGAGCCGCTGGGACCCCCACGGCTGGAATGCTTGTCGGCTGGTTCCTGGCGCCCTCATTCACTTTGCTTTGCATTCAGCTGCTGCTCAGCAGAGACTTCCTTAGGCAGAAGCCCAGGGGCACCTGCTCTGCACCCGGGAAGGGTGGGAGACCGGCCCTGGGCTGGTACCTGGGTTTCTCTCTACCCTTCTCCAGATGCCCTTGACGCATGGCACAGGTGAGCTGAAGAACTGGCTTGATTGCACTGAGATTACGTTCTGGGGCCCAAGCACACGGTTTGAAGCCGACGCAGGGCACGTGGGCCCTCATGGGTGAGTGACATTATAAATCACGCCAACGTAGAGAATGACAAACGCACCCTGGGCCCGGCTTCCAGCATGTGCAGGACAAGTTCTTTGACCAGTTACCTGAATCCCCCAATCCCCGGAGGGCCAGAGCATCAGCCGAGATAACCCCTGTGGAGACCCTGACTAGGTCTAGCTGGCTGAGGACACACAACAATTTCTGTGTTAACTAGAAAATCCTATTTTCATGTCCAGTTCCCTCAGGTAGGGTAAGTAGAAAGAAGCAAAACACACAAAGTCTACATGATTATAAGGTAGCGAGGATGATTTCCAGGAGCCATTGAAGGCCAGCCTCGTTATCTGATAACACACAAGCTACAAAGTGTCATCCTCCAGAAACATTTCCCAAGAGCCTAGGTGTAAACCACACTGGGGTTTTTTGGATCCCCCAAACTGAACTGTAAGTCCCACTGCCTACAACTGTCCACAAGAGAACCCCCCAAACATTGGTTTATGATGGATGGATGGATAGATAACAGGGTGAGTGGGTGGAAGGATGGATGAATGGGATGGGGAGAGGAGCAGGTGGATGGATATATGATAGGCAGGGTTGAGCTGGGGTGCAGGGTGGCAGGGATCAGGTGTGTTCAGAAGTGTCACCCAGGAAGCCAGAGGGAGCAGGCTAGGAGGGCCTGAGAGGGTAAGGGAGGCCGGTCAGGAGCTGCGGACATTGCTCAGGCAGGAGGTTGACCTGGATGAGATGATGCATTCCTTCCCCTCGGCACATGCCATTACAGGCCCTGATAGAGTGGATGGATGGGTAAATGGATGGATGACGGGCAGGTGGATGGGTGGGTGGCTAGATGTGTAGGTGGGTGGGTAGGTGGATAGGTGGATGGACAAATAGATGACGGGTGGGTAGACAGACGGGGTGGAGGGTGGATGGGCAGGTGGATGAGATGGATGATGGATGGGTGGGTGGGTAGGTGGAAGGATGGGGAGATGGGCAGGTGGATGGGTGTGTGGCTAGATGTGTAGGTGGGTGGGTAGGTGGATGGGCAGATGGATGAATGGGTGATGGGAGGGTAGATGGATGGATGATGGGTGGGTGGATGTGGGTGATGGATAGGTGGATGGATGATGCATTGGTGGGTGGGTGAATGGGATGGGGCAATGGGTAGGTGGATGATGGGTGAGTAGGTAGATGAATGGGTAGGGGGGTGGATGGGTGGGTGGGGAGATGGGCAGGTGAATGGATGAGTGGACAGAGATGAGTGGCTCACCACTGTCCAGCCATGGGAATGGGTACAAGCCAGCAGGGCTCTCCTGGGAAGCTGTTAATTAAAGCCACAGGGACAATAAGACTCTTCACTAAGGTTGTTTTGGGCCTCACCAGCTTATCCAAAGAAAGAGGCAATGGGCTGCCTGTGCCCCAAGCCAGAAGTTTTTCCTGGCTTCCTTACCCCCACGCCAGCCCTAAAGGCAATGACTTGGCCACCACAGCTGACCTG
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CTATTGCTACGTTTTCACATCCTTGGAAAATGGAGTTTATAAAACCAGGGAACCAGCAGACCTGCAGCCAGCCAGGTGGAGAAATGGGGCCGGGTGGGCCATGCGGGGGGCTCCAAGGACCTGGTGTGAGCATGGGGCCAGCTGGGGCTCTGCACCCTCCACCTGGTACTGGCCCCCTCTGCTGTGGGAATCCTGGTTTTCCAGGACACCCGCACCTCCATCCCACAGGACTGGCTGTCACAGGTGATGCCGGGCCTGTCACATCCTGAATAGGTGACAGCCTCTCCACGTTGGTTCTCTCCACTTGGGCACAGCCTCTTGGGGCAGGCCACCCCACCGTTCTGCTAAGCAAGTGCCCTGGGGTGAGTTATTTCTGTCCCCAGGGGGCTCGTTGCTCTTGAAATGGGCAGGTGGCATCTGGTCAAGCAGCCACCTTACCTGGGAGCCCAGCACTCTCCCCAAATCAGAGCAGGGCTGCTCTCGTTGAGCTGGGAGGGGAGTGGGGGGCTTGATGCCAATGACAAGGCCACTTGCTATCCCCTACTGTCCTGGAACTCCCAGGGCAGCCCTGCCCCAGTGCCCAGCACATCCTAGGAGGCAGGAATGAAGAGGACCCCTCCTGCCAGTGCCCGCACTGACCCACCTCCACCTCCACTGCCCCATCCAGCCCTGAGCCGGCATCTGCCCTACTTTGCAGATGTTAGGGACATACTCAAGGCCACCTCCCTGGCTGCTGGCCCAAGCTGGCTGAGCTGGCTAATACACGAGGCCTTCCCTTCTTCCTAGAAACAGGGGGCAGCTTTGGTGCCCCCAAGGACAGACGCTTCTGCAAGGAGAAAGCTTAGCATGTGTCTGCCAAATGCCCCGCTGGGCCAGCTCTGCCCACCTCCTCACCTGCAGCGTGTAAAGATAAGGCAGCCAGACACAGTCGCCCCAGCCCAGGTACCACCCGAAGTGGTCATGGCAGATGTCAATGGTCTTCAGGTACCAGGTTTCGTTCCAGAAGAAGTCAATCACGTAGATGGCCTGCAAGACAGAAGCAGCCGCTGACCACCCCCGGCCCTCCTGGGGCCCCCATGGACCTCGGGGAAATCACACTCCACGCAGATGCAGCAGGGGGTGCTCGGGAGCTGCTCAGCAACTTCCTCAATGCTGGGGCTGTTCCTTCCCTGCGGCTGGGGCTGTTCCTGCCTGGGTCATGGGCAGGGCTAAGGGCTTCCTTGTCCTCAGAACCACCCCGAGCCCATGGCCCTGGCATCTCTCCCAGCCCAGGTTCTCAGGGCTTGCAATGGCGCGTGCCAAGGGGAAGGGATACATTCATCCCATCCAGGTCAACCTCCTGCCCGAGCAACGTCCACAGCTCCTGACAGGCCTCCCTCACCCTCTCGGGTTCTCCTAGCCAGCTCCCGCTGGCTCCCTGGGTGACGCTTCCGAATGCACCTGATCGCTGCCACCCTGCACCCCAGCTCAGCACACACTTTCTGGGTCTTGCTGCTTTTAAGATAAAGAGGAAGACTTCCATGAGGCCTCCAGCCTCACCTGGCTCTGAGCTCCTGAACGCTCTCTGGTCAGGATGCGGGATGTTTCTGAGTGTCCCAGACTTGCCACCCTCTCTCCCTACAGGGGGTTCCTGGAGCATGCACTCTTGCCTCCACTCTACCAGGTTAACTCCCACACACCCCCAGATTCTACCCAGGTGTAATCCCCAAGGGAGACCTTCCTGGACCACGCCTGGCTGCGTAGAACCTGCCTCCTCCCCTCCCAGGGCTGGCAGAGACAGGCACCCAAGGATGGCTTCCTTCACCAAGTGCTCGCCGGCTGCTTCCTGGTGACACCTGGGGAGGGCAGCTGACTCTCTTTTACAAGCAGTAGATTAAGGTCATGGGAATACGCTCTGGCTTGCGGGTTCCCCCAGAGCCTGCCGGCATCGGCGTTTCACCCTCTCCAGCCATGACAGGCACCTGCAGGACGTTGACCAGGACCATGGCATTGGTCACATGGCTGTGGAGCTCCCGCTGCTTCGCTGCGAAGGACAGGTTGATGAGGGTACAGGCGACGATCCCGGGGCGCCCATTGAAGAACAGCTTGAAGTCAAACCACTTCCCGATCCGAGGGTTAAACTCGATGCCCATCATGTAGTTGTAAAAGAAATTGCCTGTGAATTTGCTTAAAAATATAAATAAAAGATACATTTAGTGGATGAGCATATCTCACAAGATGAAGCCACCTTACTTAGCGAGAGCCCAGCACTGGCCCAGGGTCCTAAAGGGTAACGTGAGACGGCGCAGGCAGAAGCTGGCCATGAGCCGCTGGGACCCCCACGGCTGGAATGCTTGTCGGCTGGTTCCTGGCGCCCTCATTCACTTTGCTTTGCATTCAGCTGCTGCTCAGCAGAGACTTCCTTAGGCAGAAGCCCAGGGGCACCTGCTCTGCACCCGGGAAGGGTGGGAGACCGGCCCTGGGCTGGTACCTGGGTTTCTCTCTACCCTTCTCCAGATGCCCTTGACGCATGGCACAGGTGAGCTGAAGAACTGGCTTGATTGCACTGAGATTACGTTCTGGGGCCCAAGCACACGGTTTGAAGCCGACGCAGGGCACGTGGGCCCTCATGGGTGAGTGACATTATAAATCACGCCAACGTAGAGAATGACAAACGCACCCTGGGCCCGGCTTCCAGCATGTGCAGGACAAGTTCTTTGACCAGTTACCTGAATCCCCCAATCCCCGGAGGGCCAGAGCATCAGCCGAGATAACCCCTGTGGAGACCCTGACTAGGTCTAGCTGGCTGAGGACACACAACAATTTCTGTGTTAACTAGAAAATCCTATTTTCATGTCCAGTTCCCTCAGGTAGGGTAAGTAGAAAGAAGCAAAACACACAAAGTCTACATGATTATAAGGTAGCGAGGATGATTTCCAGGAGCCATTGAAGGCCAGCCTCGTTATCTGATAACACACAAGCTACAAAGTGTCATCCTCCAGAAACATTTCCCAAGAGCCTAGGTGTAAACCACACTGGGGTTTTTTGGATCCCCCAAACTGAACTGTAAGTCCCACTGCCTACAACTGTCCACAAGAGAACCCCCCAAACATTGGTTTATGATGGATGGATGGATAGATAACAGGGTGAGTGGGTGGAAGGATGGATGAATGGGATGGGGAGAGGAGCAGGTGGATGGATATATGATAGGCAGGGTTGAGCTGGGGTGCAGGGTGGCAGGGATCAGGTGTGTTCAGAAGTGTCACCCAGGAAGCCAGAGGGAGCAGGCTAGGAGGGCCTGAGAGGGTAAGGGAGGCCGGTCAGGAGCTGCGGACATTGCTCAGGCAGGAGGTTGACCTGGATGAGATGATGCATTCCTTCCCCTCGGCACATGCCATTACAGGCCCTGATAGAGTGGATGGATGGGTAAATGGATGGATGACGGGCAGGTGGATGGGTGGGTGGCTAGATGTGTAGGTGGGTGGGTAGGTGGATAGGTGGATGGACAAATAGATGACGGGTGGGTAGACAGACGGGGTGGAGGGTGGATGGGCAGGTGGATGAGATGGATGATGGATGGGTGGGTGGGTAGGTGGAAGGATGGGGAGATGGGCAGGTGGATGGGTGTGTGGCTAGATGTGTAGGTGGGTGGGTAGGTGGATGGGCAGATGGATGAATGGGTGATGGGAGGGTAGATGGATGGATGATGGGTGGGTGGATGTGGGTGATGGATAGGTGGATGGATGATGCATTGGTGGGTGGGTGAATGGGATGGGGCAATGGGTAGGTGGATGATGGGTGAGTAGGTAGATGAATGGGTAGGGGGGTGGATGGGTGGGTGGGGAGATGGGCAGGTGAATGGATGAGTGGACAGAGATGAGTGGCTCACCACTGTCCAGCCATGGGAATGGGTACAAGCCAGCAGGGCTCTCCTGGGAAGCTGTTAATTAAAGCCACAGGGACAATAAGACTCTTCACTAAGGTTGTTTTGGGCCTCACCAGCTTATCCAAAGAAAGAGGCAATGGGCTGCCTGTGCCCCAAGCCAGAAGTTTTTCCTGGCTTCCTTACCCCCACGCCAGCCCTAAAGGCAATGACTTGGCCACCACAGCTGACCTG
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Task1_train_16253
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The gene DHCR7 (7-dehydrocholesterol reductase), on Chromosome 11, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; not specified
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GCTACGTTTTCACATCCTTGGAAAATGGAGTTTATAAAACCAGGGAACCAGCAGACCTGCAGCCAGCCAGGTGGAGAAATGGGGCCGGGTGGGCCATGCGGGGGGCTCCAAGGACCTGGTGTGAGCATGGGGCCAGCTGGGGCTCTGCACCCTCCACCTGGTACTGGCCCCCTCTGCTGTGGGAATCCTGGTTTTCCAGGACACCCGCACCTCCATCCCACAGGACTGGCTGTCACAGGTGATGCCGGGCCTGTCACATCCTGAATAGGTGACAGCCTCTCCACGTTGGTTCTCTCCACTTGGGCACAGCCTCTTGGGGCAGGCCACCCCACCGTTCTGCTAAGCAAGTGCCCTGGGGTGAGTTATTTCTGTCCCCAGGGGGCTCGTTGCTCTTGAAATGGGCAGGTGGCATCTGGTCAAGCAGCCACCTTACCTGGGAGCCCAGCACTCTCCCCAAATCAGAGCAGGGCTGCTCTCGTTGAGCTGGGAGGGGAGTGGGGGGCTTGATGCCAATGACAAGGCCACTTGCTATCCCCTACTGTCCTGGAACTCCCAGGGCAGCCCTGCCCCAGTGCCCAGCACATCCTAGGAGGCAGGAATGAAGAGGACCCCTCCTGCCAGTGCCCGCACTGACCCACCTCCACCTCCACTGCCCCATCCAGCCCTGAGCCGGCATCTGCCCTACTTTGCAGATGTTAGGGACATACTCAAGGCCACCTCCCTGGCTGCTGGCCCAAGCTGGCTGAGCTGGCTAATACACGAGGCCTTCCCTTCTTCCTAGAAACAGGGGGCAGCTTTGGTGCCCCCAAGGACAGACGCTTCTGCAAGGAGAAAGCTTAGCATGTGTCTGCCAAATGCCCCGCTGGGCCAGCTCTGCCCACCTCCTCACCTGCAGCGTGTAAAGATAAGGCAGCCAGACACAGTCGCCCCAGCCCAGGTACCACCCGAAGTGGTCATGGCAGATGTCAATGGTCTTCAGGTACCAGGTTTCGTTCCAGAAGAAGTCAATCACGTAGATGGCCTGCAAGACAGAAGCAGCCGCTGACCACCCCCGGCCCTCCTGGGGCCCCCATGGACCTCGGGGAAATCACACTCCACGCAGATGCAGCAGGGGGTGCTCGGGAGCTGCTCAGCAACTTCCTCAATGCTGGGGCTGTTCCTTCCCTGCGGCTGGGGCTGTTCCTGCCTGGGTCATGGGCAGGGCTAAGGGCTTCCTTGTCCTCAGAACCACCCCGAGCCCATGGCCCTGGCATCTCTCCCAGCCCAGGTTCTCAGGGCTTGCAATGGCGCGTGCCAAGGGGAAGGGATACATTCATCCCATCCAGGTCAACCTCCTGCCCGAGCAACGTCCACAGCTCCTGACAGGCCTCCCTCACCCTCTCGGGTTCTCCTAGCCAGCTCCCGCTGGCTCCCTGGGTGACGCTTCCGAATGCACCTGATCGCTGCCACCCTGCACCCCAGCTCAGCACACACTTTCTGGGTCTTGCTGCTTTTAAGATAAAGAGGAAGACTTCCATGAGGCCTCCAGCCTCACCTGGCTCTGAGCTCCTGAACGCTCTCTGGTCAGGATGCGGGATGTTTCTGAGTGTCCCAGACTTGCCACCCTCTCTCCCTACAGGGGGTTCCTGGAGCATGCACTCTTGCCTCCACTCTACCAGGTTAACTCCCACACACCCCCAGATTCTACCCAGGTGTAATCCCCAAGGGAGACCTTCCTGGACCACGCCTGGCTGCGTAGAACCTGCCTCCTCCCCTCCCAGGGCTGGCAGAGACAGGCACCCAAGGATGGCTTCCTTCACCAAGTGCTCGCCGGCTGCTTCCTGGTGACACCTGGGGAGGGCAGCTGACTCTCTTTTACAAGCAGTAGATTAAGGTCATGGGAATACGCTCTGGCTTGCGGGTTCCCCCAGAGCCTGCCGGCATCGGCGTTTCACCCTCTCCAGCCATGACAGGCACCTGCAGGACGTTGACCAGGACCATGGCATTGGTCACATGGCTGTGGAGCTCCCGCTGCTTCGCTGCGAAGGACAGGTTGATGAGGGTCCAGGCGACGATCCCGGGGCGCCCATTGAAGAACAGCTTGAAGTCAAACCACTTCCCGATCCGAGGGTTAAACTCGATGCCCATCATGTAGTTGTAAAAGAAATTGCCTGTGAATTTGCTTAAAAATATAAATAAAAGATACATTTAGTGGATGAGCATATCTCACAAGATGAAGCCACCTTACTTAGCGAGAGCCCAGCACTGGCCCAGGGTCCTAAAGGGTAACGTGAGACGGCGCAGGCAGAAGCTGGCCATGAGCCGCTGGGACCCCCACGGCTGGAATGCTTGTCGGCTGGTTCCTGGCGCCCTCATTCACTTTGCTTTGCATTCAGCTGCTGCTCAGCAGAGACTTCCTTAGGCAGAAGCCCAGGGGCACCTGCTCTGCACCCGGGAAGGGTGGGAGACCGGCCCTGGGCTGGTACCTGGGTTTCTCTCTACCCTTCTCCAGATGCCCTTGACGCATGGCACAGGTGAGCTGAAGAACTGGCTTGATTGCACTGAGATTACGTTCTGGGGCCCAAGCACACGGTTTGAAGCCGACGCAGGGCACGTGGGCCCTCATGGGTGAGTGACATTATAAATCACGCCAACGTAGAGAATGACAAACGCACCCTGGGCCCGGCTTCCAGCATGTGCAGGACAAGTTCTTTGACCAGTTACCTGAATCCCCCAATCCCCGGAGGGCCAGAGCATCAGCCGAGATAACCCCTGTGGAGACCCTGACTAGGTCTAGCTGGCTGAGGACACACAACAATTTCTGTGTTAACTAGAAAATCCTATTTTCATGTCCAGTTCCCTCAGGTAGGGTAAGTAGAAAGAAGCAAAACACACAAAGTCTACATGATTATAAGGTAGCGAGGATGATTTCCAGGAGCCATTGAAGGCCAGCCTCGTTATCTGATAACACACAAGCTACAAAGTGTCATCCTCCAGAAACATTTCCCAAGAGCCTAGGTGTAAACCACACTGGGGTTTTTTGGATCCCCCAAACTGAACTGTAAGTCCCACTGCCTACAACTGTCCACAAGAGAACCCCCCAAACATTGGTTTATGATGGATGGATGGATAGATAACAGGGTGAGTGGGTGGAAGGATGGATGAATGGGATGGGGAGAGGAGCAGGTGGATGGATATATGATAGGCAGGGTTGAGCTGGGGTGCAGGGTGGCAGGGATCAGGTGTGTTCAGAAGTGTCACCCAGGAAGCCAGAGGGAGCAGGCTAGGAGGGCCTGAGAGGGTAAGGGAGGCCGGTCAGGAGCTGCGGACATTGCTCAGGCAGGAGGTTGACCTGGATGAGATGATGCATTCCTTCCCCTCGGCACATGCCATTACAGGCCCTGATAGAGTGGATGGATGGGTAAATGGATGGATGACGGGCAGGTGGATGGGTGGGTGGCTAGATGTGTAGGTGGGTGGGTAGGTGGATAGGTGGATGGACAAATAGATGACGGGTGGGTAGACAGACGGGGTGGAGGGTGGATGGGCAGGTGGATGAGATGGATGATGGATGGGTGGGTGGGTAGGTGGAAGGATGGGGAGATGGGCAGGTGGATGGGTGTGTGGCTAGATGTGTAGGTGGGTGGGTAGGTGGATGGGCAGATGGATGAATGGGTGATGGGAGGGTAGATGGATGGATGATGGGTGGGTGGATGTGGGTGATGGATAGGTGGATGGATGATGCATTGGTGGGTGGGTGAATGGGATGGGGCAATGGGTAGGTGGATGATGGGTGAGTAGGTAGATGAATGGGTAGGGGGGTGGATGGGTGGGTGGGGAGATGGGCAGGTGAATGGATGAGTGGACAGAGATGAGTGGCTCACCACTGTCCAGCCATGGGAATGGGTACAAGCCAGCAGGGCTCTCCTGGGAAGCTGTTAATTAAAGCCACAGGGACAATAAGACTCTTCACTAAGGTTGTTTTGGGCCTCACCAGCTTATCCAAAGAAAGAGGCAATGGGCTGCCTGTGCCCCAAGCCAGAAGTTTTTCCTGGCTTCCTTACCCCCACGCCAGCCCTAAAGGCAATGACTTGGCCACCACAGCTGACCTGGCCAT
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GCTACGTTTTCACATCCTTGGAAAATGGAGTTTATAAAACCAGGGAACCAGCAGACCTGCAGCCAGCCAGGTGGAGAAATGGGGCCGGGTGGGCCATGCGGGGGGCTCCAAGGACCTGGTGTGAGCATGGGGCCAGCTGGGGCTCTGCACCCTCCACCTGGTACTGGCCCCCTCTGCTGTGGGAATCCTGGTTTTCCAGGACACCCGCACCTCCATCCCACAGGACTGGCTGTCACAGGTGATGCCGGGCCTGTCACATCCTGAATAGGTGACAGCCTCTCCACGTTGGTTCTCTCCACTTGGGCACAGCCTCTTGGGGCAGGCCACCCCACCGTTCTGCTAAGCAAGTGCCCTGGGGTGAGTTATTTCTGTCCCCAGGGGGCTCGTTGCTCTTGAAATGGGCAGGTGGCATCTGGTCAAGCAGCCACCTTACCTGGGAGCCCAGCACTCTCCCCAAATCAGAGCAGGGCTGCTCTCGTTGAGCTGGGAGGGGAGTGGGGGGCTTGATGCCAATGACAAGGCCACTTGCTATCCCCTACTGTCCTGGAACTCCCAGGGCAGCCCTGCCCCAGTGCCCAGCACATCCTAGGAGGCAGGAATGAAGAGGACCCCTCCTGCCAGTGCCCGCACTGACCCACCTCCACCTCCACTGCCCCATCCAGCCCTGAGCCGGCATCTGCCCTACTTTGCAGATGTTAGGGACATACTCAAGGCCACCTCCCTGGCTGCTGGCCCAAGCTGGCTGAGCTGGCTAATACACGAGGCCTTCCCTTCTTCCTAGAAACAGGGGGCAGCTTTGGTGCCCCCAAGGACAGACGCTTCTGCAAGGAGAAAGCTTAGCATGTGTCTGCCAAATGCCCCGCTGGGCCAGCTCTGCCCACCTCCTCACCTGCAGCGTGTAAAGATAAGGCAGCCAGACACAGTCGCCCCAGCCCAGGTACCACCCGAAGTGGTCATGGCAGATGTCAATGGTCTTCAGGTACCAGGTTTCGTTCCAGAAGAAGTCAATCACGTAGATGGCCTGCAAGACAGAAGCAGCCGCTGACCACCCCCGGCCCTCCTGGGGCCCCCATGGACCTCGGGGAAATCACACTCCACGCAGATGCAGCAGGGGGTGCTCGGGAGCTGCTCAGCAACTTCCTCAATGCTGGGGCTGTTCCTTCCCTGCGGCTGGGGCTGTTCCTGCCTGGGTCATGGGCAGGGCTAAGGGCTTCCTTGTCCTCAGAACCACCCCGAGCCCATGGCCCTGGCATCTCTCCCAGCCCAGGTTCTCAGGGCTTGCAATGGCGCGTGCCAAGGGGAAGGGATACATTCATCCCATCCAGGTCAACCTCCTGCCCGAGCAACGTCCACAGCTCCTGACAGGCCTCCCTCACCCTCTCGGGTTCTCCTAGCCAGCTCCCGCTGGCTCCCTGGGTGACGCTTCCGAATGCACCTGATCGCTGCCACCCTGCACCCCAGCTCAGCACACACTTTCTGGGTCTTGCTGCTTTTAAGATAAAGAGGAAGACTTCCATGAGGCCTCCAGCCTCACCTGGCTCTGAGCTCCTGAACGCTCTCTGGTCAGGATGCGGGATGTTTCTGAGTGTCCCAGACTTGCCACCCTCTCTCCCTACAGGGGGTTCCTGGAGCATGCACTCTTGCCTCCACTCTACCAGGTTAACTCCCACACACCCCCAGATTCTACCCAGGTGTAATCCCCAAGGGAGACCTTCCTGGACCACGCCTGGCTGCGTAGAACCTGCCTCCTCCCCTCCCAGGGCTGGCAGAGACAGGCACCCAAGGATGGCTTCCTTCACCAAGTGCTCGCCGGCTGCTTCCTGGTGACACCTGGGGAGGGCAGCTGACTCTCTTTTACAAGCAGTAGATTAAGGTCATGGGAATACGCTCTGGCTTGCGGGTTCCCCCAGAGCCTGCCGGCATCGGCGTTTCACCCTCTCCAGCCATGACAGGCACCTGCAGGACGTTGACCAGGACCATGGCATTGGTCACATGGCTGTGGAGCTCCCGCTGCTTCGCTGCGAAGGACAGGTTGATGAGGGTCCAGGTGACGATCCCGGGGCGCCCATTGAAGAACAGCTTGAAGTCAAACCACTTCCCGATCCGAGGGTTAAACTCGATGCCCATCATGTAGTTGTAAAAGAAATTGCCTGTGAATTTGCTTAAAAATATAAATAAAAGATACATTTAGTGGATGAGCATATCTCACAAGATGAAGCCACCTTACTTAGCGAGAGCCCAGCACTGGCCCAGGGTCCTAAAGGGTAACGTGAGACGGCGCAGGCAGAAGCTGGCCATGAGCCGCTGGGACCCCCACGGCTGGAATGCTTGTCGGCTGGTTCCTGGCGCCCTCATTCACTTTGCTTTGCATTCAGCTGCTGCTCAGCAGAGACTTCCTTAGGCAGAAGCCCAGGGGCACCTGCTCTGCACCCGGGAAGGGTGGGAGACCGGCCCTGGGCTGGTACCTGGGTTTCTCTCTACCCTTCTCCAGATGCCCTTGACGCATGGCACAGGTGAGCTGAAGAACTGGCTTGATTGCACTGAGATTACGTTCTGGGGCCCAAGCACACGGTTTGAAGCCGACGCAGGGCACGTGGGCCCTCATGGGTGAGTGACATTATAAATCACGCCAACGTAGAGAATGACAAACGCACCCTGGGCCCGGCTTCCAGCATGTGCAGGACAAGTTCTTTGACCAGTTACCTGAATCCCCCAATCCCCGGAGGGCCAGAGCATCAGCCGAGATAACCCCTGTGGAGACCCTGACTAGGTCTAGCTGGCTGAGGACACACAACAATTTCTGTGTTAACTAGAAAATCCTATTTTCATGTCCAGTTCCCTCAGGTAGGGTAAGTAGAAAGAAGCAAAACACACAAAGTCTACATGATTATAAGGTAGCGAGGATGATTTCCAGGAGCCATTGAAGGCCAGCCTCGTTATCTGATAACACACAAGCTACAAAGTGTCATCCTCCAGAAACATTTCCCAAGAGCCTAGGTGTAAACCACACTGGGGTTTTTTGGATCCCCCAAACTGAACTGTAAGTCCCACTGCCTACAACTGTCCACAAGAGAACCCCCCAAACATTGGTTTATGATGGATGGATGGATAGATAACAGGGTGAGTGGGTGGAAGGATGGATGAATGGGATGGGGAGAGGAGCAGGTGGATGGATATATGATAGGCAGGGTTGAGCTGGGGTGCAGGGTGGCAGGGATCAGGTGTGTTCAGAAGTGTCACCCAGGAAGCCAGAGGGAGCAGGCTAGGAGGGCCTGAGAGGGTAAGGGAGGCCGGTCAGGAGCTGCGGACATTGCTCAGGCAGGAGGTTGACCTGGATGAGATGATGCATTCCTTCCCCTCGGCACATGCCATTACAGGCCCTGATAGAGTGGATGGATGGGTAAATGGATGGATGACGGGCAGGTGGATGGGTGGGTGGCTAGATGTGTAGGTGGGTGGGTAGGTGGATAGGTGGATGGACAAATAGATGACGGGTGGGTAGACAGACGGGGTGGAGGGTGGATGGGCAGGTGGATGAGATGGATGATGGATGGGTGGGTGGGTAGGTGGAAGGATGGGGAGATGGGCAGGTGGATGGGTGTGTGGCTAGATGTGTAGGTGGGTGGGTAGGTGGATGGGCAGATGGATGAATGGGTGATGGGAGGGTAGATGGATGGATGATGGGTGGGTGGATGTGGGTGATGGATAGGTGGATGGATGATGCATTGGTGGGTGGGTGAATGGGATGGGGCAATGGGTAGGTGGATGATGGGTGAGTAGGTAGATGAATGGGTAGGGGGGTGGATGGGTGGGTGGGGAGATGGGCAGGTGAATGGATGAGTGGACAGAGATGAGTGGCTCACCACTGTCCAGCCATGGGAATGGGTACAAGCCAGCAGGGCTCTCCTGGGAAGCTGTTAATTAAAGCCACAGGGACAATAAGACTCTTCACTAAGGTTGTTTTGGGCCTCACCAGCTTATCCAAAGAAAGAGGCAATGGGCTGCCTGTGCCCCAAGCCAGAAGTTTTTCCTGGCTTCCTTACCCCCACGCCAGCCCTAAAGGCAATGACTTGGCCACCACAGCTGACCTGGCCAT
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Task1_train_16254
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The variant affects gene DHCR7 (7-dehydrocholesterol reductase), 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; Smith-Lemli-Opitz syndrome
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GCTACGTTTTCACATCCTTGGAAAATGGAGTTTATAAAACCAGGGAACCAGCAGACCTGCAGCCAGCCAGGTGGAGAAATGGGGCCGGGTGGGCCATGCGGGGGGCTCCAAGGACCTGGTGTGAGCATGGGGCCAGCTGGGGCTCTGCACCCTCCACCTGGTACTGGCCCCCTCTGCTGTGGGAATCCTGGTTTTCCAGGACACCCGCACCTCCATCCCACAGGACTGGCTGTCACAGGTGATGCCGGGCCTGTCACATCCTGAATAGGTGACAGCCTCTCCACGTTGGTTCTCTCCACTTGGGCACAGCCTCTTGGGGCAGGCCACCCCACCGTTCTGCTAAGCAAGTGCCCTGGGGTGAGTTATTTCTGTCCCCAGGGGGCTCGTTGCTCTTGAAATGGGCAGGTGGCATCTGGTCAAGCAGCCACCTTACCTGGGAGCCCAGCACTCTCCCCAAATCAGAGCAGGGCTGCTCTCGTTGAGCTGGGAGGGGAGTGGGGGGCTTGATGCCAATGACAAGGCCACTTGCTATCCCCTACTGTCCTGGAACTCCCAGGGCAGCCCTGCCCCAGTGCCCAGCACATCCTAGGAGGCAGGAATGAAGAGGACCCCTCCTGCCAGTGCCCGCACTGACCCACCTCCACCTCCACTGCCCCATCCAGCCCTGAGCCGGCATCTGCCCTACTTTGCAGATGTTAGGGACATACTCAAGGCCACCTCCCTGGCTGCTGGCCCAAGCTGGCTGAGCTGGCTAATACACGAGGCCTTCCCTTCTTCCTAGAAACAGGGGGCAGCTTTGGTGCCCCCAAGGACAGACGCTTCTGCAAGGAGAAAGCTTAGCATGTGTCTGCCAAATGCCCCGCTGGGCCAGCTCTGCCCACCTCCTCACCTGCAGCGTGTAAAGATAAGGCAGCCAGACACAGTCGCCCCAGCCCAGGTACCACCCGAAGTGGTCATGGCAGATGTCAATGGTCTTCAGGTACCAGGTTTCGTTCCAGAAGAAGTCAATCACGTAGATGGCCTGCAAGACAGAAGCAGCCGCTGACCACCCCCGGCCCTCCTGGGGCCCCCATGGACCTCGGGGAAATCACACTCCACGCAGATGCAGCAGGGGGTGCTCGGGAGCTGCTCAGCAACTTCCTCAATGCTGGGGCTGTTCCTTCCCTGCGGCTGGGGCTGTTCCTGCCTGGGTCATGGGCAGGGCTAAGGGCTTCCTTGTCCTCAGAACCACCCCGAGCCCATGGCCCTGGCATCTCTCCCAGCCCAGGTTCTCAGGGCTTGCAATGGCGCGTGCCAAGGGGAAGGGATACATTCATCCCATCCAGGTCAACCTCCTGCCCGAGCAACGTCCACAGCTCCTGACAGGCCTCCCTCACCCTCTCGGGTTCTCCTAGCCAGCTCCCGCTGGCTCCCTGGGTGACGCTTCCGAATGCACCTGATCGCTGCCACCCTGCACCCCAGCTCAGCACACACTTTCTGGGTCTTGCTGCTTTTAAGATAAAGAGGAAGACTTCCATGAGGCCTCCAGCCTCACCTGGCTCTGAGCTCCTGAACGCTCTCTGGTCAGGATGCGGGATGTTTCTGAGTGTCCCAGACTTGCCACCCTCTCTCCCTACAGGGGGTTCCTGGAGCATGCACTCTTGCCTCCACTCTACCAGGTTAACTCCCACACACCCCCAGATTCTACCCAGGTGTAATCCCCAAGGGAGACCTTCCTGGACCACGCCTGGCTGCGTAGAACCTGCCTCCTCCCCTCCCAGGGCTGGCAGAGACAGGCACCCAAGGATGGCTTCCTTCACCAAGTGCTCGCCGGCTGCTTCCTGGTGACACCTGGGGAGGGCAGCTGACTCTCTTTTACAAGCAGTAGATTAAGGTCATGGGAATACGCTCTGGCTTGCGGGTTCCCCCAGAGCCTGCCGGCATCGGCGTTTCACCCTCTCCAGCCATGACAGGCACCTGCAGGACGTTGACCAGGACCATGGCATTGGTCACATGGCTGTGGAGCTCCCGCTGCTTCGCTGCGAAGGACAGGTTGATGAGGGTCCAGGCGACGATCCCGGGGCGCCCATTGAAGAACAGCTTGAAGTCAAACCACTTCCCGATCCGAGGGTTAAACTCGATGCCCATCATGTAGTTGTAAAAGAAATTGCCTGTGAATTTGCTTAAAAATATAAATAAAAGATACATTTAGTGGATGAGCATATCTCACAAGATGAAGCCACCTTACTTAGCGAGAGCCCAGCACTGGCCCAGGGTCCTAAAGGGTAACGTGAGACGGCGCAGGCAGAAGCTGGCCATGAGCCGCTGGGACCCCCACGGCTGGAATGCTTGTCGGCTGGTTCCTGGCGCCCTCATTCACTTTGCTTTGCATTCAGCTGCTGCTCAGCAGAGACTTCCTTAGGCAGAAGCCCAGGGGCACCTGCTCTGCACCCGGGAAGGGTGGGAGACCGGCCCTGGGCTGGTACCTGGGTTTCTCTCTACCCTTCTCCAGATGCCCTTGACGCATGGCACAGGTGAGCTGAAGAACTGGCTTGATTGCACTGAGATTACGTTCTGGGGCCCAAGCACACGGTTTGAAGCCGACGCAGGGCACGTGGGCCCTCATGGGTGAGTGACATTATAAATCACGCCAACGTAGAGAATGACAAACGCACCCTGGGCCCGGCTTCCAGCATGTGCAGGACAAGTTCTTTGACCAGTTACCTGAATCCCCCAATCCCCGGAGGGCCAGAGCATCAGCCGAGATAACCCCTGTGGAGACCCTGACTAGGTCTAGCTGGCTGAGGACACACAACAATTTCTGTGTTAACTAGAAAATCCTATTTTCATGTCCAGTTCCCTCAGGTAGGGTAAGTAGAAAGAAGCAAAACACACAAAGTCTACATGATTATAAGGTAGCGAGGATGATTTCCAGGAGCCATTGAAGGCCAGCCTCGTTATCTGATAACACACAAGCTACAAAGTGTCATCCTCCAGAAACATTTCCCAAGAGCCTAGGTGTAAACCACACTGGGGTTTTTTGGATCCCCCAAACTGAACTGTAAGTCCCACTGCCTACAACTGTCCACAAGAGAACCCCCCAAACATTGGTTTATGATGGATGGATGGATAGATAACAGGGTGAGTGGGTGGAAGGATGGATGAATGGGATGGGGAGAGGAGCAGGTGGATGGATATATGATAGGCAGGGTTGAGCTGGGGTGCAGGGTGGCAGGGATCAGGTGTGTTCAGAAGTGTCACCCAGGAAGCCAGAGGGAGCAGGCTAGGAGGGCCTGAGAGGGTAAGGGAGGCCGGTCAGGAGCTGCGGACATTGCTCAGGCAGGAGGTTGACCTGGATGAGATGATGCATTCCTTCCCCTCGGCACATGCCATTACAGGCCCTGATAGAGTGGATGGATGGGTAAATGGATGGATGACGGGCAGGTGGATGGGTGGGTGGCTAGATGTGTAGGTGGGTGGGTAGGTGGATAGGTGGATGGACAAATAGATGACGGGTGGGTAGACAGACGGGGTGGAGGGTGGATGGGCAGGTGGATGAGATGGATGATGGATGGGTGGGTGGGTAGGTGGAAGGATGGGGAGATGGGCAGGTGGATGGGTGTGTGGCTAGATGTGTAGGTGGGTGGGTAGGTGGATGGGCAGATGGATGAATGGGTGATGGGAGGGTAGATGGATGGATGATGGGTGGGTGGATGTGGGTGATGGATAGGTGGATGGATGATGCATTGGTGGGTGGGTGAATGGGATGGGGCAATGGGTAGGTGGATGATGGGTGAGTAGGTAGATGAATGGGTAGGGGGGTGGATGGGTGGGTGGGGAGATGGGCAGGTGAATGGATGAGTGGACAGAGATGAGTGGCTCACCACTGTCCAGCCATGGGAATGGGTACAAGCCAGCAGGGCTCTCCTGGGAAGCTGTTAATTAAAGCCACAGGGACAATAAGACTCTTCACTAAGGTTGTTTTGGGCCTCACCAGCTTATCCAAAGAAAGAGGCAATGGGCTGCCTGTGCCCCAAGCCAGAAGTTTTTCCTGGCTTCCTTACCCCCACGCCAGCCCTAAAGGCAATGACTTGGCCACCACAGCTGACCTGGCCAT
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GCTACGTTTTCACATCCTTGGAAAATGGAGTTTATAAAACCAGGGAACCAGCAGACCTGCAGCCAGCCAGGTGGAGAAATGGGGCCGGGTGGGCCATGCGGGGGGCTCCAAGGACCTGGTGTGAGCATGGGGCCAGCTGGGGCTCTGCACCCTCCACCTGGTACTGGCCCCCTCTGCTGTGGGAATCCTGGTTTTCCAGGACACCCGCACCTCCATCCCACAGGACTGGCTGTCACAGGTGATGCCGGGCCTGTCACATCCTGAATAGGTGACAGCCTCTCCACGTTGGTTCTCTCCACTTGGGCACAGCCTCTTGGGGCAGGCCACCCCACCGTTCTGCTAAGCAAGTGCCCTGGGGTGAGTTATTTCTGTCCCCAGGGGGCTCGTTGCTCTTGAAATGGGCAGGTGGCATCTGGTCAAGCAGCCACCTTACCTGGGAGCCCAGCACTCTCCCCAAATCAGAGCAGGGCTGCTCTCGTTGAGCTGGGAGGGGAGTGGGGGGCTTGATGCCAATGACAAGGCCACTTGCTATCCCCTACTGTCCTGGAACTCCCAGGGCAGCCCTGCCCCAGTGCCCAGCACATCCTAGGAGGCAGGAATGAAGAGGACCCCTCCTGCCAGTGCCCGCACTGACCCACCTCCACCTCCACTGCCCCATCCAGCCCTGAGCCGGCATCTGCCCTACTTTGCAGATGTTAGGGACATACTCAAGGCCACCTCCCTGGCTGCTGGCCCAAGCTGGCTGAGCTGGCTAATACACGAGGCCTTCCCTTCTTCCTAGAAACAGGGGGCAGCTTTGGTGCCCCCAAGGACAGACGCTTCTGCAAGGAGAAAGCTTAGCATGTGTCTGCCAAATGCCCCGCTGGGCCAGCTCTGCCCACCTCCTCACCTGCAGCGTGTAAAGATAAGGCAGCCAGACACAGTCGCCCCAGCCCAGGTACCACCCGAAGTGGTCATGGCAGATGTCAATGGTCTTCAGGTACCAGGTTTCGTTCCAGAAGAAGTCAATCACGTAGATGGCCTGCAAGACAGAAGCAGCCGCTGACCACCCCCGGCCCTCCTGGGGCCCCCATGGACCTCGGGGAAATCACACTCCACGCAGATGCAGCAGGGGGTGCTCGGGAGCTGCTCAGCAACTTCCTCAATGCTGGGGCTGTTCCTTCCCTGCGGCTGGGGCTGTTCCTGCCTGGGTCATGGGCAGGGCTAAGGGCTTCCTTGTCCTCAGAACCACCCCGAGCCCATGGCCCTGGCATCTCTCCCAGCCCAGGTTCTCAGGGCTTGCAATGGCGCGTGCCAAGGGGAAGGGATACATTCATCCCATCCAGGTCAACCTCCTGCCCGAGCAACGTCCACAGCTCCTGACAGGCCTCCCTCACCCTCTCGGGTTCTCCTAGCCAGCTCCCGCTGGCTCCCTGGGTGACGCTTCCGAATGCACCTGATCGCTGCCACCCTGCACCCCAGCTCAGCACACACTTTCTGGGTCTTGCTGCTTTTAAGATAAAGAGGAAGACTTCCATGAGGCCTCCAGCCTCACCTGGCTCTGAGCTCCTGAACGCTCTCTGGTCAGGATGCGGGATGTTTCTGAGTGTCCCAGACTTGCCACCCTCTCTCCCTACAGGGGGTTCCTGGAGCATGCACTCTTGCCTCCACTCTACCAGGTTAACTCCCACACACCCCCAGATTCTACCCAGGTGTAATCCCCAAGGGAGACCTTCCTGGACCACGCCTGGCTGCGTAGAACCTGCCTCCTCCCCTCCCAGGGCTGGCAGAGACAGGCACCCAAGGATGGCTTCCTTCACCAAGTGCTCGCCGGCTGCTTCCTGGTGACACCTGGGGAGGGCAGCTGACTCTCTTTTACAAGCAGTAGATTAAGGTCATGGGAATACGCTCTGGCTTGCGGGTTCCCCCAGAGCCTGCCGGCATCGGCGTTTCACCCTCTCCAGCCATGACAGGCACCTGCAGGACGTTGACCAGGACCATGGCATTGGTCACATGGCTGTGGAGCTCCCGCTGCTTCGCTGCGAAGGACAGGTTGATGAGGGTCCAGGTGACGATCCCGGGGCGCCCATTGAAGAACAGCTTGAAGTCAAACCACTTCCCGATCCGAGGGTTAAACTCGATGCCCATCATGTAGTTGTAAAAGAAATTGCCTGTGAATTTGCTTAAAAATATAAATAAAAGATACATTTAGTGGATGAGCATATCTCACAAGATGAAGCCACCTTACTTAGCGAGAGCCCAGCACTGGCCCAGGGTCCTAAAGGGTAACGTGAGACGGCGCAGGCAGAAGCTGGCCATGAGCCGCTGGGACCCCCACGGCTGGAATGCTTGTCGGCTGGTTCCTGGCGCCCTCATTCACTTTGCTTTGCATTCAGCTGCTGCTCAGCAGAGACTTCCTTAGGCAGAAGCCCAGGGGCACCTGCTCTGCACCCGGGAAGGGTGGGAGACCGGCCCTGGGCTGGTACCTGGGTTTCTCTCTACCCTTCTCCAGATGCCCTTGACGCATGGCACAGGTGAGCTGAAGAACTGGCTTGATTGCACTGAGATTACGTTCTGGGGCCCAAGCACACGGTTTGAAGCCGACGCAGGGCACGTGGGCCCTCATGGGTGAGTGACATTATAAATCACGCCAACGTAGAGAATGACAAACGCACCCTGGGCCCGGCTTCCAGCATGTGCAGGACAAGTTCTTTGACCAGTTACCTGAATCCCCCAATCCCCGGAGGGCCAGAGCATCAGCCGAGATAACCCCTGTGGAGACCCTGACTAGGTCTAGCTGGCTGAGGACACACAACAATTTCTGTGTTAACTAGAAAATCCTATTTTCATGTCCAGTTCCCTCAGGTAGGGTAAGTAGAAAGAAGCAAAACACACAAAGTCTACATGATTATAAGGTAGCGAGGATGATTTCCAGGAGCCATTGAAGGCCAGCCTCGTTATCTGATAACACACAAGCTACAAAGTGTCATCCTCCAGAAACATTTCCCAAGAGCCTAGGTGTAAACCACACTGGGGTTTTTTGGATCCCCCAAACTGAACTGTAAGTCCCACTGCCTACAACTGTCCACAAGAGAACCCCCCAAACATTGGTTTATGATGGATGGATGGATAGATAACAGGGTGAGTGGGTGGAAGGATGGATGAATGGGATGGGGAGAGGAGCAGGTGGATGGATATATGATAGGCAGGGTTGAGCTGGGGTGCAGGGTGGCAGGGATCAGGTGTGTTCAGAAGTGTCACCCAGGAAGCCAGAGGGAGCAGGCTAGGAGGGCCTGAGAGGGTAAGGGAGGCCGGTCAGGAGCTGCGGACATTGCTCAGGCAGGAGGTTGACCTGGATGAGATGATGCATTCCTTCCCCTCGGCACATGCCATTACAGGCCCTGATAGAGTGGATGGATGGGTAAATGGATGGATGACGGGCAGGTGGATGGGTGGGTGGCTAGATGTGTAGGTGGGTGGGTAGGTGGATAGGTGGATGGACAAATAGATGACGGGTGGGTAGACAGACGGGGTGGAGGGTGGATGGGCAGGTGGATGAGATGGATGATGGATGGGTGGGTGGGTAGGTGGAAGGATGGGGAGATGGGCAGGTGGATGGGTGTGTGGCTAGATGTGTAGGTGGGTGGGTAGGTGGATGGGCAGATGGATGAATGGGTGATGGGAGGGTAGATGGATGGATGATGGGTGGGTGGATGTGGGTGATGGATAGGTGGATGGATGATGCATTGGTGGGTGGGTGAATGGGATGGGGCAATGGGTAGGTGGATGATGGGTGAGTAGGTAGATGAATGGGTAGGGGGGTGGATGGGTGGGTGGGGAGATGGGCAGGTGAATGGATGAGTGGACAGAGATGAGTGGCTCACCACTGTCCAGCCATGGGAATGGGTACAAGCCAGCAGGGCTCTCCTGGGAAGCTGTTAATTAAAGCCACAGGGACAATAAGACTCTTCACTAAGGTTGTTTTGGGCCTCACCAGCTTATCCAAAGAAAGAGGCAATGGGCTGCCTGTGCCCCAAGCCAGAAGTTTTTCCTGGCTTCCTTACCCCCACGCCAGCCCTAAAGGCAATGACTTGGCCACCACAGCTGACCTGGCCAT
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Task1_train_16255
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Here is a genetic alteration in DHCR7 (7-dehydrocholesterol reductase) on Chromosome 11. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Smith-Lemli-Opitz syndrome
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GGACCCCCACGGCTGGAATGCTTGTCGGCTGGTTCCTGGCGCCCTCATTCACTTTGCTTTGCATTCAGCTGCTGCTCAGCAGAGACTTCCTTAGGCAGAAGCCCAGGGGCACCTGCTCTGCACCCGGGAAGGGTGGGAGACCGGCCCTGGGCTGGTACCTGGGTTTCTCTCTACCCTTCTCCAGATGCCCTTGACGCATGGCACAGGTGAGCTGAAGAACTGGCTTGATTGCACTGAGATTACGTTCTGGGGCCCAAGCACACGGTTTGAAGCCGACGCAGGGCACGTGGGCCCTCATGGGTGAGTGACATTATAAATCACGCCAACGTAGAGAATGACAAACGCACCCTGGGCCCGGCTTCCAGCATGTGCAGGACAAGTTCTTTGACCAGTTACCTGAATCCCCCAATCCCCGGAGGGCCAGAGCATCAGCCGAGATAACCCCTGTGGAGACCCTGACTAGGTCTAGCTGGCTGAGGACACACAACAATTTCTGTGTTAACTAGAAAATCCTATTTTCATGTCCAGTTCCCTCAGGTAGGGTAAGTAGAAAGAAGCAAAACACACAAAGTCTACATGATTATAAGGTAGCGAGGATGATTTCCAGGAGCCATTGAAGGCCAGCCTCGTTATCTGATAACACACAAGCTACAAAGTGTCATCCTCCAGAAACATTTCCCAAGAGCCTAGGTGTAAACCACACTGGGGTTTTTTGGATCCCCCAAACTGAACTGTAAGTCCCACTGCCTACAACTGTCCACAAGAGAACCCCCCAAACATTGGTTTATGATGGATGGATGGATAGATAACAGGGTGAGTGGGTGGAAGGATGGATGAATGGGATGGGGAGAGGAGCAGGTGGATGGATATATGATAGGCAGGGTTGAGCTGGGGTGCAGGGTGGCAGGGATCAGGTGTGTTCAGAAGTGTCACCCAGGAAGCCAGAGGGAGCAGGCTAGGAGGGCCTGAGAGGGTAAGGGAGGCCGGTCAGGAGCTGCGGACATTGCTCAGGCAGGAGGTTGACCTGGATGAGATGATGCATTCCTTCCCCTCGGCACATGCCATTACAGGCCCTGATAGAGTGGATGGATGGGTAAATGGATGGATGACGGGCAGGTGGATGGGTGGGTGGCTAGATGTGTAGGTGGGTGGGTAGGTGGATAGGTGGATGGACAAATAGATGACGGGTGGGTAGACAGACGGGGTGGAGGGTGGATGGGCAGGTGGATGAGATGGATGATGGATGGGTGGGTGGGTAGGTGGAAGGATGGGGAGATGGGCAGGTGGATGGGTGTGTGGCTAGATGTGTAGGTGGGTGGGTAGGTGGATGGGCAGATGGATGAATGGGTGATGGGAGGGTAGATGGATGGATGATGGGTGGGTGGATGTGGGTGATGGATAGGTGGATGGATGATGCATTGGTGGGTGGGTGAATGGGATGGGGCAATGGGTAGGTGGATGATGGGTGAGTAGGTAGATGAATGGGTAGGGGGGTGGATGGGTGGGTGGGGAGATGGGCAGGTGAATGGATGAGTGGACAGAGATGAGTGGCTCACCACTGTCCAGCCATGGGAATGGGTACAAGCCAGCAGGGCTCTCCTGGGAAGCTGTTAATTAAAGCCACAGGGACAATAAGACTCTTCACTAAGGTTGTTTTGGGCCTCACCAGCTTATCCAAAGAAAGAGGCAATGGGCTGCCTGTGCCCCAAGCCAGAAGTTTTTCCTGGCTTCCTTACCCCCACGCCAGCCCTAAAGGCAATGACTTGGCCACCACAGCTGACCTGGCCATCTTCAGCTGCATTCTTGCCAAGGCTGGAGAAGCCACCAAACATTCAGAAAGGATGTTCCCCAGGGTGAAGCAAGTTCCATCCCCCTCCTCCTCTTCCACGGATTCTCAGTGCTCAGGGCTTTACAACCACCTGCCCCAGGCAGCAAGAAAGGCCAGGGGTGAAGTTTGCACTTTCTACATCAGGCTGGACCCGCTGCTAAGAACATACCAGTCTCTGGCGCTGGTGGGGAAGAAGTAGCCCTTGACCATGGCGAAGGTGGAGACGGCATAGCCAAGGATGTTGGCGCACCACAGCAGTGGGATCCAGTTGTCGAAGATGATGGTGGGCGAGAACCAGGACAGGAGATGAGCGTTTGCAAACCAGAGCAGGTGCGTGAGGAGCCAGGCTTGCAGGCCATTGATCTGATACTTGTTCACAACCCCTGCAGATGAAGGATTCAGAAATGAAGGCGCTTTCCCAACCCGCAGTGAGGAGCTTGGCTGGGCTGAAGCATGCCTGGCGGGGGCCCTGGTCACTTTCTGGGCCTCTGCTGCTGCGGACCCTCATCTGGGGCCCCAGGAACCATCTCTGAGGCCCCTATACCCTTGGCCAAGGAACTACCTGCTCCTAGGAAGAGGGAGGGGAGGCTGAGTCCATCCTTTGGTTCTGCATCTCGTTAACTGGCCATAGGCTGAGTGACAGGTGTGCAGTCTGATAGGGAGGTCAGGGCTGAGGGGCAGAAGCAAGTGAGGATGCCCCTGTGGTATGCCTGGCCCCCTCTGTAATTGTTGGGGAGCACCTCAGCCCATCCACCCCTCAAAACAGGGAGCTTCTGGGGGCAGAGTTGGGATGCGGTTCCAGTCTGCACCCACGTGAGAGGCACAAAGCCAGGCTCCTCGTGGGTTCTCAATGATGGCAAGGAATGAACAGACAAGGTCTCCCACGGACAGCCCCGAGGAATGGTGGTCTCTGCATGGTGGTCTCTGCAGGAAGCTTCATGGGCCGAGTGCATCCCCTGCTATGGGGCTGGGAAGGAGCTGGGCCATCCATTCCCTCCTTACCCAGGAAAGTGATTTCTAACCTGGGTGTGGGATGGCCCCAGCTGCCCTCAATGGTTTTGAGGCCTGGTGCTGTGAAAAATCCAAGCAAAATGGATTTCTATCCTGTGACAAGTCTTAGGGACAAAGCAGCGCTGGGGAGGACTGGCCCCTGAGAGAAAGGGATGAGAACGGGAGCCTGGGGAGGGTGGAAGGGAGGAGGCTACCTGCAGGAGTCACGGCCCCCTCCTGGATGCCTCCTACGTAGCCGGGTAGAAACTTATGGCAGAAGTCAGGGAGAGACGTGTACAGAAGCACCTGAAACACACAAGCAGCCTGATCACCCCCCGCCTGGAGGGCACCTGCAAAGGGGGACGCATAGCAGGAACATGAGAATCACAATCATAGTCTTTTTCTTCCTGAAGCACTTATGGCTCCTGGAAGCTCAAACTGCTGGGCTGTGGGTTTTGAAGGGGGTTCTGAGACAATAAACTCATCAACCAGGGAAGGTGCCAAGGCGTTCTCCCCCAGGGCTCCATTCGCCCCTCAGGAGAGCGCACAGGTCCCTCCCAGTCACCTTTTTAAAATGGAGAATCCCATAAAATTCAACTTTTTATATATATATATAAATCTATCTTTGAGATGAGGTCTTGTTCTACCACCCAGGCTGGAGTGTAGTGGTGCAATCATAGCTCACCGCAGCGTTGTCCTCCTGAGCTCAAGTGATCCTTCCACCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTGCACCACCACACCCGGCTAAAATTCACCCTTTTAAAGTGCACAATTCAGCGGCATTTAGCGCATTTACATGGTTGGTTGTACACCTATCACTGCTAATTCCAGAACTTTTCATCACCACAGAAGAAAATGTTGTTCCAATCTCCGGTCACTCTGAATTCCCTGTCCCTGCCGCCCCTGGCTGCCACTGAGCTTTCTGCCTCTGTGGATTTGCCTGTACTGGGTATTGCATATAAAGGGAACCACACAGTATGCAGCCTCTGTGACTGGCTTCTCTCGCTCAGCAGTGTCTTCAAGGGTCATCCGCCTACTGGCATCAGAGCTTCATTCCCTTCCGCTGCCAAATAGTGTCCCACAGTGGGCACAGTGTTCTGTTCTGTGGGTCCATTCATCTACTGATGGACAGGTGGGGGTTCCTGCTTTGTGGCTATTTGTGATTCACACTGCCCCTGTCATTTTTCACTCAAAGGGACCAAGAGATCTGAACTGAGAAGTATTCTGGAGCCCAGAAGCTTGGACCCTGG
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GGACCCCCACGGCTGGAATGCTTGTCGGCTGGTTCCTGGCGCCCTCATTCACTTTGCTTTGCATTCAGCTGCTGCTCAGCAGAGACTTCCTTAGGCAGAAGCCCAGGGGCACCTGCTCTGCACCCGGGAAGGGTGGGAGACCGGCCCTGGGCTGGTACCTGGGTTTCTCTCTACCCTTCTCCAGATGCCCTTGACGCATGGCACAGGTGAGCTGAAGAACTGGCTTGATTGCACTGAGATTACGTTCTGGGGCCCAAGCACACGGTTTGAAGCCGACGCAGGGCACGTGGGCCCTCATGGGTGAGTGACATTATAAATCACGCCAACGTAGAGAATGACAAACGCACCCTGGGCCCGGCTTCCAGCATGTGCAGGACAAGTTCTTTGACCAGTTACCTGAATCCCCCAATCCCCGGAGGGCCAGAGCATCAGCCGAGATAACCCCTGTGGAGACCCTGACTAGGTCTAGCTGGCTGAGGACACACAACAATTTCTGTGTTAACTAGAAAATCCTATTTTCATGTCCAGTTCCCTCAGGTAGGGTAAGTAGAAAGAAGCAAAACACACAAAGTCTACATGATTATAAGGTAGCGAGGATGATTTCCAGGAGCCATTGAAGGCCAGCCTCGTTATCTGATAACACACAAGCTACAAAGTGTCATCCTCCAGAAACATTTCCCAAGAGCCTAGGTGTAAACCACACTGGGGTTTTTTGGATCCCCCAAACTGAACTGTAAGTCCCACTGCCTACAACTGTCCACAAGAGAACCCCCCAAACATTGGTTTATGATGGATGGATGGATAGATAACAGGGTGAGTGGGTGGAAGGATGGATGAATGGGATGGGGAGAGGAGCAGGTGGATGGATATATGATAGGCAGGGTTGAGCTGGGGTGCAGGGTGGCAGGGATCAGGTGTGTTCAGAAGTGTCACCCAGGAAGCCAGAGGGAGCAGGCTAGGAGGGCCTGAGAGGGTAAGGGAGGCCGGTCAGGAGCTGCGGACATTGCTCAGGCAGGAGGTTGACCTGGATGAGATGATGCATTCCTTCCCCTCGGCACATGCCATTACAGGCCCTGATAGAGTGGATGGATGGGTAAATGGATGGATGACGGGCAGGTGGATGGGTGGGTGGCTAGATGTGTAGGTGGGTGGGTAGGTGGATAGGTGGATGGACAAATAGATGACGGGTGGGTAGACAGACGGGGTGGAGGGTGGATGGGCAGGTGGATGAGATGGATGATGGATGGGTGGGTGGGTAGGTGGAAGGATGGGGAGATGGGCAGGTGGATGGGTGTGTGGCTAGATGTGTAGGTGGGTGGGTAGGTGGATGGGCAGATGGATGAATGGGTGATGGGAGGGTAGATGGATGGATGATGGGTGGGTGGATGTGGGTGATGGATAGGTGGATGGATGATGCATTGGTGGGTGGGTGAATGGGATGGGGCAATGGGTAGGTGGATGATGGGTGAGTAGGTAGATGAATGGGTAGGGGGGTGGATGGGTGGGTGGGGAGATGGGCAGGTGAATGGATGAGTGGACAGAGATGAGTGGCTCACCACTGTCCAGCCATGGGAATGGGTACAAGCCAGCAGGGCTCTCCTGGGAAGCTGTTAATTAAAGCCACAGGGACAATAAGACTCTTCACTAAGGTTGTTTTGGGCCTCACCAGCTTATCCAAAGAAAGAGGCAATGGGCTGCCTGTGCCCCAAGCCAGAAGTTTTTCCTGGCTTCCTTACCCCCACGCCAGCCCTAAAGGCAATGACTTGGCCACCACAGCTGACCTGGCCATCTTCAGCTGCATTCTTGCCAAGGCTGGAGAAGCCACCAAACATTCAGAAAGGATGTTCCCCAGGGTGAAGCAAGTTCCATCCCCCTCCTCCTCTTCCACGGATTCTCAGTGCTCAGGGCTTTACAACCACCTGCCCCAGGCAGCAAGAAAGGCCAGGGGTGAAGTTTGCACTTTCTACATCAGGCTGGACCCGCTGCTAAGAACATACCAGTCTCTGGCGCTGGTGGGGAAGAAGTAGCCCTTGACCATGGCGAAGGTGAAGACGGCATAGCCAAGGATGTTGGCGCACCACAGCAGTGGGATCCAGTTGTCGAAGATGATGGTGGGCGAGAACCAGGACAGGAGATGAGCGTTTGCAAACCAGAGCAGGTGCGTGAGGAGCCAGGCTTGCAGGCCATTGATCTGATACTTGTTCACAACCCCTGCAGATGAAGGATTCAGAAATGAAGGCGCTTTCCCAACCCGCAGTGAGGAGCTTGGCTGGGCTGAAGCATGCCTGGCGGGGGCCCTGGTCACTTTCTGGGCCTCTGCTGCTGCGGACCCTCATCTGGGGCCCCAGGAACCATCTCTGAGGCCCCTATACCCTTGGCCAAGGAACTACCTGCTCCTAGGAAGAGGGAGGGGAGGCTGAGTCCATCCTTTGGTTCTGCATCTCGTTAACTGGCCATAGGCTGAGTGACAGGTGTGCAGTCTGATAGGGAGGTCAGGGCTGAGGGGCAGAAGCAAGTGAGGATGCCCCTGTGGTATGCCTGGCCCCCTCTGTAATTGTTGGGGAGCACCTCAGCCCATCCACCCCTCAAAACAGGGAGCTTCTGGGGGCAGAGTTGGGATGCGGTTCCAGTCTGCACCCACGTGAGAGGCACAAAGCCAGGCTCCTCGTGGGTTCTCAATGATGGCAAGGAATGAACAGACAAGGTCTCCCACGGACAGCCCCGAGGAATGGTGGTCTCTGCATGGTGGTCTCTGCAGGAAGCTTCATGGGCCGAGTGCATCCCCTGCTATGGGGCTGGGAAGGAGCTGGGCCATCCATTCCCTCCTTACCCAGGAAAGTGATTTCTAACCTGGGTGTGGGATGGCCCCAGCTGCCCTCAATGGTTTTGAGGCCTGGTGCTGTGAAAAATCCAAGCAAAATGGATTTCTATCCTGTGACAAGTCTTAGGGACAAAGCAGCGCTGGGGAGGACTGGCCCCTGAGAGAAAGGGATGAGAACGGGAGCCTGGGGAGGGTGGAAGGGAGGAGGCTACCTGCAGGAGTCACGGCCCCCTCCTGGATGCCTCCTACGTAGCCGGGTAGAAACTTATGGCAGAAGTCAGGGAGAGACGTGTACAGAAGCACCTGAAACACACAAGCAGCCTGATCACCCCCCGCCTGGAGGGCACCTGCAAAGGGGGACGCATAGCAGGAACATGAGAATCACAATCATAGTCTTTTTCTTCCTGAAGCACTTATGGCTCCTGGAAGCTCAAACTGCTGGGCTGTGGGTTTTGAAGGGGGTTCTGAGACAATAAACTCATCAACCAGGGAAGGTGCCAAGGCGTTCTCCCCCAGGGCTCCATTCGCCCCTCAGGAGAGCGCACAGGTCCCTCCCAGTCACCTTTTTAAAATGGAGAATCCCATAAAATTCAACTTTTTATATATATATATAAATCTATCTTTGAGATGAGGTCTTGTTCTACCACCCAGGCTGGAGTGTAGTGGTGCAATCATAGCTCACCGCAGCGTTGTCCTCCTGAGCTCAAGTGATCCTTCCACCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTGCACCACCACACCCGGCTAAAATTCACCCTTTTAAAGTGCACAATTCAGCGGCATTTAGCGCATTTACATGGTTGGTTGTACACCTATCACTGCTAATTCCAGAACTTTTCATCACCACAGAAGAAAATGTTGTTCCAATCTCCGGTCACTCTGAATTCCCTGTCCCTGCCGCCCCTGGCTGCCACTGAGCTTTCTGCCTCTGTGGATTTGCCTGTACTGGGTATTGCATATAAAGGGAACCACACAGTATGCAGCCTCTGTGACTGGCTTCTCTCGCTCAGCAGTGTCTTCAAGGGTCATCCGCCTACTGGCATCAGAGCTTCATTCCCTTCCGCTGCCAAATAGTGTCCCACAGTGGGCACAGTGTTCTGTTCTGTGGGTCCATTCATCTACTGATGGACAGGTGGGGGTTCCTGCTTTGTGGCTATTTGTGATTCACACTGCCCCTGTCATTTTTCACTCAAAGGGACCAAGAGATCTGAACTGAGAAGTATTCTGGAGCCCAGAAGCTTGGACCCTGG
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Task1_train_16256
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The gene DHCR7 (7-dehydrocholesterol reductase) on Chromosome 11 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; not specified
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GGACCCCCACGGCTGGAATGCTTGTCGGCTGGTTCCTGGCGCCCTCATTCACTTTGCTTTGCATTCAGCTGCTGCTCAGCAGAGACTTCCTTAGGCAGAAGCCCAGGGGCACCTGCTCTGCACCCGGGAAGGGTGGGAGACCGGCCCTGGGCTGGTACCTGGGTTTCTCTCTACCCTTCTCCAGATGCCCTTGACGCATGGCACAGGTGAGCTGAAGAACTGGCTTGATTGCACTGAGATTACGTTCTGGGGCCCAAGCACACGGTTTGAAGCCGACGCAGGGCACGTGGGCCCTCATGGGTGAGTGACATTATAAATCACGCCAACGTAGAGAATGACAAACGCACCCTGGGCCCGGCTTCCAGCATGTGCAGGACAAGTTCTTTGACCAGTTACCTGAATCCCCCAATCCCCGGAGGGCCAGAGCATCAGCCGAGATAACCCCTGTGGAGACCCTGACTAGGTCTAGCTGGCTGAGGACACACAACAATTTCTGTGTTAACTAGAAAATCCTATTTTCATGTCCAGTTCCCTCAGGTAGGGTAAGTAGAAAGAAGCAAAACACACAAAGTCTACATGATTATAAGGTAGCGAGGATGATTTCCAGGAGCCATTGAAGGCCAGCCTCGTTATCTGATAACACACAAGCTACAAAGTGTCATCCTCCAGAAACATTTCCCAAGAGCCTAGGTGTAAACCACACTGGGGTTTTTTGGATCCCCCAAACTGAACTGTAAGTCCCACTGCCTACAACTGTCCACAAGAGAACCCCCCAAACATTGGTTTATGATGGATGGATGGATAGATAACAGGGTGAGTGGGTGGAAGGATGGATGAATGGGATGGGGAGAGGAGCAGGTGGATGGATATATGATAGGCAGGGTTGAGCTGGGGTGCAGGGTGGCAGGGATCAGGTGTGTTCAGAAGTGTCACCCAGGAAGCCAGAGGGAGCAGGCTAGGAGGGCCTGAGAGGGTAAGGGAGGCCGGTCAGGAGCTGCGGACATTGCTCAGGCAGGAGGTTGACCTGGATGAGATGATGCATTCCTTCCCCTCGGCACATGCCATTACAGGCCCTGATAGAGTGGATGGATGGGTAAATGGATGGATGACGGGCAGGTGGATGGGTGGGTGGCTAGATGTGTAGGTGGGTGGGTAGGTGGATAGGTGGATGGACAAATAGATGACGGGTGGGTAGACAGACGGGGTGGAGGGTGGATGGGCAGGTGGATGAGATGGATGATGGATGGGTGGGTGGGTAGGTGGAAGGATGGGGAGATGGGCAGGTGGATGGGTGTGTGGCTAGATGTGTAGGTGGGTGGGTAGGTGGATGGGCAGATGGATGAATGGGTGATGGGAGGGTAGATGGATGGATGATGGGTGGGTGGATGTGGGTGATGGATAGGTGGATGGATGATGCATTGGTGGGTGGGTGAATGGGATGGGGCAATGGGTAGGTGGATGATGGGTGAGTAGGTAGATGAATGGGTAGGGGGGTGGATGGGTGGGTGGGGAGATGGGCAGGTGAATGGATGAGTGGACAGAGATGAGTGGCTCACCACTGTCCAGCCATGGGAATGGGTACAAGCCAGCAGGGCTCTCCTGGGAAGCTGTTAATTAAAGCCACAGGGACAATAAGACTCTTCACTAAGGTTGTTTTGGGCCTCACCAGCTTATCCAAAGAAAGAGGCAATGGGCTGCCTGTGCCCCAAGCCAGAAGTTTTTCCTGGCTTCCTTACCCCCACGCCAGCCCTAAAGGCAATGACTTGGCCACCACAGCTGACCTGGCCATCTTCAGCTGCATTCTTGCCAAGGCTGGAGAAGCCACCAAACATTCAGAAAGGATGTTCCCCAGGGTGAAGCAAGTTCCATCCCCCTCCTCCTCTTCCACGGATTCTCAGTGCTCAGGGCTTTACAACCACCTGCCCCAGGCAGCAAGAAAGGCCAGGGGTGAAGTTTGCACTTTCTACATCAGGCTGGACCCGCTGCTAAGAACATACCAGTCTCTGGCGCTGGTGGGGAAGAAGTAGCCCTTGACCATGGCGAAGGTGGAGACGGCATAGCCAAGGATGTTGGCGCACCACAGCAGTGGGATCCAGTTGTCGAAGATGATGGTGGGCGAGAACCAGGACAGGAGATGAGCGTTTGCAAACCAGAGCAGGTGCGTGAGGAGCCAGGCTTGCAGGCCATTGATCTGATACTTGTTCACAACCCCTGCAGATGAAGGATTCAGAAATGAAGGCGCTTTCCCAACCCGCAGTGAGGAGCTTGGCTGGGCTGAAGCATGCCTGGCGGGGGCCCTGGTCACTTTCTGGGCCTCTGCTGCTGCGGACCCTCATCTGGGGCCCCAGGAACCATCTCTGAGGCCCCTATACCCTTGGCCAAGGAACTACCTGCTCCTAGGAAGAGGGAGGGGAGGCTGAGTCCATCCTTTGGTTCTGCATCTCGTTAACTGGCCATAGGCTGAGTGACAGGTGTGCAGTCTGATAGGGAGGTCAGGGCTGAGGGGCAGAAGCAAGTGAGGATGCCCCTGTGGTATGCCTGGCCCCCTCTGTAATTGTTGGGGAGCACCTCAGCCCATCCACCCCTCAAAACAGGGAGCTTCTGGGGGCAGAGTTGGGATGCGGTTCCAGTCTGCACCCACGTGAGAGGCACAAAGCCAGGCTCCTCGTGGGTTCTCAATGATGGCAAGGAATGAACAGACAAGGTCTCCCACGGACAGCCCCGAGGAATGGTGGTCTCTGCATGGTGGTCTCTGCAGGAAGCTTCATGGGCCGAGTGCATCCCCTGCTATGGGGCTGGGAAGGAGCTGGGCCATCCATTCCCTCCTTACCCAGGAAAGTGATTTCTAACCTGGGTGTGGGATGGCCCCAGCTGCCCTCAATGGTTTTGAGGCCTGGTGCTGTGAAAAATCCAAGCAAAATGGATTTCTATCCTGTGACAAGTCTTAGGGACAAAGCAGCGCTGGGGAGGACTGGCCCCTGAGAGAAAGGGATGAGAACGGGAGCCTGGGGAGGGTGGAAGGGAGGAGGCTACCTGCAGGAGTCACGGCCCCCTCCTGGATGCCTCCTACGTAGCCGGGTAGAAACTTATGGCAGAAGTCAGGGAGAGACGTGTACAGAAGCACCTGAAACACACAAGCAGCCTGATCACCCCCCGCCTGGAGGGCACCTGCAAAGGGGGACGCATAGCAGGAACATGAGAATCACAATCATAGTCTTTTTCTTCCTGAAGCACTTATGGCTCCTGGAAGCTCAAACTGCTGGGCTGTGGGTTTTGAAGGGGGTTCTGAGACAATAAACTCATCAACCAGGGAAGGTGCCAAGGCGTTCTCCCCCAGGGCTCCATTCGCCCCTCAGGAGAGCGCACAGGTCCCTCCCAGTCACCTTTTTAAAATGGAGAATCCCATAAAATTCAACTTTTTATATATATATATAAATCTATCTTTGAGATGAGGTCTTGTTCTACCACCCAGGCTGGAGTGTAGTGGTGCAATCATAGCTCACCGCAGCGTTGTCCTCCTGAGCTCAAGTGATCCTTCCACCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTGCACCACCACACCCGGCTAAAATTCACCCTTTTAAAGTGCACAATTCAGCGGCATTTAGCGCATTTACATGGTTGGTTGTACACCTATCACTGCTAATTCCAGAACTTTTCATCACCACAGAAGAAAATGTTGTTCCAATCTCCGGTCACTCTGAATTCCCTGTCCCTGCCGCCCCTGGCTGCCACTGAGCTTTCTGCCTCTGTGGATTTGCCTGTACTGGGTATTGCATATAAAGGGAACCACACAGTATGCAGCCTCTGTGACTGGCTTCTCTCGCTCAGCAGTGTCTTCAAGGGTCATCCGCCTACTGGCATCAGAGCTTCATTCCCTTCCGCTGCCAAATAGTGTCCCACAGTGGGCACAGTGTTCTGTTCTGTGGGTCCATTCATCTACTGATGGACAGGTGGGGGTTCCTGCTTTGTGGCTATTTGTGATTCACACTGCCCCTGTCATTTTTCACTCAAAGGGACCAAGAGATCTGAACTGAGAAGTATTCTGGAGCCCAGAAGCTTGGACCCTGG
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GGACCCCCACGGCTGGAATGCTTGTCGGCTGGTTCCTGGCGCCCTCATTCACTTTGCTTTGCATTCAGCTGCTGCTCAGCAGAGACTTCCTTAGGCAGAAGCCCAGGGGCACCTGCTCTGCACCCGGGAAGGGTGGGAGACCGGCCCTGGGCTGGTACCTGGGTTTCTCTCTACCCTTCTCCAGATGCCCTTGACGCATGGCACAGGTGAGCTGAAGAACTGGCTTGATTGCACTGAGATTACGTTCTGGGGCCCAAGCACACGGTTTGAAGCCGACGCAGGGCACGTGGGCCCTCATGGGTGAGTGACATTATAAATCACGCCAACGTAGAGAATGACAAACGCACCCTGGGCCCGGCTTCCAGCATGTGCAGGACAAGTTCTTTGACCAGTTACCTGAATCCCCCAATCCCCGGAGGGCCAGAGCATCAGCCGAGATAACCCCTGTGGAGACCCTGACTAGGTCTAGCTGGCTGAGGACACACAACAATTTCTGTGTTAACTAGAAAATCCTATTTTCATGTCCAGTTCCCTCAGGTAGGGTAAGTAGAAAGAAGCAAAACACACAAAGTCTACATGATTATAAGGTAGCGAGGATGATTTCCAGGAGCCATTGAAGGCCAGCCTCGTTATCTGATAACACACAAGCTACAAAGTGTCATCCTCCAGAAACATTTCCCAAGAGCCTAGGTGTAAACCACACTGGGGTTTTTTGGATCCCCCAAACTGAACTGTAAGTCCCACTGCCTACAACTGTCCACAAGAGAACCCCCCAAACATTGGTTTATGATGGATGGATGGATAGATAACAGGGTGAGTGGGTGGAAGGATGGATGAATGGGATGGGGAGAGGAGCAGGTGGATGGATATATGATAGGCAGGGTTGAGCTGGGGTGCAGGGTGGCAGGGATCAGGTGTGTTCAGAAGTGTCACCCAGGAAGCCAGAGGGAGCAGGCTAGGAGGGCCTGAGAGGGTAAGGGAGGCCGGTCAGGAGCTGCGGACATTGCTCAGGCAGGAGGTTGACCTGGATGAGATGATGCATTCCTTCCCCTCGGCACATGCCATTACAGGCCCTGATAGAGTGGATGGATGGGTAAATGGATGGATGACGGGCAGGTGGATGGGTGGGTGGCTAGATGTGTAGGTGGGTGGGTAGGTGGATAGGTGGATGGACAAATAGATGACGGGTGGGTAGACAGACGGGGTGGAGGGTGGATGGGCAGGTGGATGAGATGGATGATGGATGGGTGGGTGGGTAGGTGGAAGGATGGGGAGATGGGCAGGTGGATGGGTGTGTGGCTAGATGTGTAGGTGGGTGGGTAGGTGGATGGGCAGATGGATGAATGGGTGATGGGAGGGTAGATGGATGGATGATGGGTGGGTGGATGTGGGTGATGGATAGGTGGATGGATGATGCATTGGTGGGTGGGTGAATGGGATGGGGCAATGGGTAGGTGGATGATGGGTGAGTAGGTAGATGAATGGGTAGGGGGGTGGATGGGTGGGTGGGGAGATGGGCAGGTGAATGGATGAGTGGACAGAGATGAGTGGCTCACCACTGTCCAGCCATGGGAATGGGTACAAGCCAGCAGGGCTCTCCTGGGAAGCTGTTAATTAAAGCCACAGGGACAATAAGACTCTTCACTAAGGTTGTTTTGGGCCTCACCAGCTTATCCAAAGAAAGAGGCAATGGGCTGCCTGTGCCCCAAGCCAGAAGTTTTTCCTGGCTTCCTTACCCCCACGCCAGCCCTAAAGGCAATGACTTGGCCACCACAGCTGACCTGGCCATCTTCAGCTGCATTCTTGCCAAGGCTGGAGAAGCCACCAAACATTCAGAAAGGATGTTCCCCAGGGTGAAGCAAGTTCCATCCCCCTCCTCCTCTTCCACGGATTCTCAGTGCTCAGGGCTTTACAACCACCTGCCCCAGGCAGCAAGAAAGGCCAGGGGTGAAGTTTGCACTTTCTACATCAGGCTGGACCCGCTGCTAAGAACATACCAGTCTCTGGCGCTGGTGGGGAAGAAGTAGCCCTTGACCATGGCGAAGGTGAAGACGGCATAGCCAAGGATGTTGGCGCACCACAGCAGTGGGATCCAGTTGTCGAAGATGATGGTGGGCGAGAACCAGGACAGGAGATGAGCGTTTGCAAACCAGAGCAGGTGCGTGAGGAGCCAGGCTTGCAGGCCATTGATCTGATACTTGTTCACAACCCCTGCAGATGAAGGATTCAGAAATGAAGGCGCTTTCCCAACCCGCAGTGAGGAGCTTGGCTGGGCTGAAGCATGCCTGGCGGGGGCCCTGGTCACTTTCTGGGCCTCTGCTGCTGCGGACCCTCATCTGGGGCCCCAGGAACCATCTCTGAGGCCCCTATACCCTTGGCCAAGGAACTACCTGCTCCTAGGAAGAGGGAGGGGAGGCTGAGTCCATCCTTTGGTTCTGCATCTCGTTAACTGGCCATAGGCTGAGTGACAGGTGTGCAGTCTGATAGGGAGGTCAGGGCTGAGGGGCAGAAGCAAGTGAGGATGCCCCTGTGGTATGCCTGGCCCCCTCTGTAATTGTTGGGGAGCACCTCAGCCCATCCACCCCTCAAAACAGGGAGCTTCTGGGGGCAGAGTTGGGATGCGGTTCCAGTCTGCACCCACGTGAGAGGCACAAAGCCAGGCTCCTCGTGGGTTCTCAATGATGGCAAGGAATGAACAGACAAGGTCTCCCACGGACAGCCCCGAGGAATGGTGGTCTCTGCATGGTGGTCTCTGCAGGAAGCTTCATGGGCCGAGTGCATCCCCTGCTATGGGGCTGGGAAGGAGCTGGGCCATCCATTCCCTCCTTACCCAGGAAAGTGATTTCTAACCTGGGTGTGGGATGGCCCCAGCTGCCCTCAATGGTTTTGAGGCCTGGTGCTGTGAAAAATCCAAGCAAAATGGATTTCTATCCTGTGACAAGTCTTAGGGACAAAGCAGCGCTGGGGAGGACTGGCCCCTGAGAGAAAGGGATGAGAACGGGAGCCTGGGGAGGGTGGAAGGGAGGAGGCTACCTGCAGGAGTCACGGCCCCCTCCTGGATGCCTCCTACGTAGCCGGGTAGAAACTTATGGCAGAAGTCAGGGAGAGACGTGTACAGAAGCACCTGAAACACACAAGCAGCCTGATCACCCCCCGCCTGGAGGGCACCTGCAAAGGGGGACGCATAGCAGGAACATGAGAATCACAATCATAGTCTTTTTCTTCCTGAAGCACTTATGGCTCCTGGAAGCTCAAACTGCTGGGCTGTGGGTTTTGAAGGGGGTTCTGAGACAATAAACTCATCAACCAGGGAAGGTGCCAAGGCGTTCTCCCCCAGGGCTCCATTCGCCCCTCAGGAGAGCGCACAGGTCCCTCCCAGTCACCTTTTTAAAATGGAGAATCCCATAAAATTCAACTTTTTATATATATATATAAATCTATCTTTGAGATGAGGTCTTGTTCTACCACCCAGGCTGGAGTGTAGTGGTGCAATCATAGCTCACCGCAGCGTTGTCCTCCTGAGCTCAAGTGATCCTTCCACCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTGCACCACCACACCCGGCTAAAATTCACCCTTTTAAAGTGCACAATTCAGCGGCATTTAGCGCATTTACATGGTTGGTTGTACACCTATCACTGCTAATTCCAGAACTTTTCATCACCACAGAAGAAAATGTTGTTCCAATCTCCGGTCACTCTGAATTCCCTGTCCCTGCCGCCCCTGGCTGCCACTGAGCTTTCTGCCTCTGTGGATTTGCCTGTACTGGGTATTGCATATAAAGGGAACCACACAGTATGCAGCCTCTGTGACTGGCTTCTCTCGCTCAGCAGTGTCTTCAAGGGTCATCCGCCTACTGGCATCAGAGCTTCATTCCCTTCCGCTGCCAAATAGTGTCCCACAGTGGGCACAGTGTTCTGTTCTGTGGGTCCATTCATCTACTGATGGACAGGTGGGGGTTCCTGCTTTGTGGCTATTTGTGATTCACACTGCCCCTGTCATTTTTCACTCAAAGGGACCAAGAGATCTGAACTGAGAAGTATTCTGGAGCCCAGAAGCTTGGACCCTGG
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Task1_train_16257
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The following genetic variant occurs in DHCR7 (7-dehydrocholesterol reductase) on Chromosome 11. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Smith-Lemli-Opitz syndrome
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TTTGAGGCCTGGTGCTGTGAAAAATCCAAGCAAAATGGATTTCTATCCTGTGACAAGTCTTAGGGACAAAGCAGCGCTGGGGAGGACTGGCCCCTGAGAGAAAGGGATGAGAACGGGAGCCTGGGGAGGGTGGAAGGGAGGAGGCTACCTGCAGGAGTCACGGCCCCCTCCTGGATGCCTCCTACGTAGCCGGGTAGAAACTTATGGCAGAAGTCAGGGAGAGACGTGTACAGAAGCACCTGAAACACACAAGCAGCCTGATCACCCCCCGCCTGGAGGGCACCTGCAAAGGGGGACGCATAGCAGGAACATGAGAATCACAATCATAGTCTTTTTCTTCCTGAAGCACTTATGGCTCCTGGAAGCTCAAACTGCTGGGCTGTGGGTTTTGAAGGGGGTTCTGAGACAATAAACTCATCAACCAGGGAAGGTGCCAAGGCGTTCTCCCCCAGGGCTCCATTCGCCCCTCAGGAGAGCGCACAGGTCCCTCCCAGTCACCTTTTTAAAATGGAGAATCCCATAAAATTCAACTTTTTATATATATATATAAATCTATCTTTGAGATGAGGTCTTGTTCTACCACCCAGGCTGGAGTGTAGTGGTGCAATCATAGCTCACCGCAGCGTTGTCCTCCTGAGCTCAAGTGATCCTTCCACCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTGCACCACCACACCCGGCTAAAATTCACCCTTTTAAAGTGCACAATTCAGCGGCATTTAGCGCATTTACATGGTTGGTTGTACACCTATCACTGCTAATTCCAGAACTTTTCATCACCACAGAAGAAAATGTTGTTCCAATCTCCGGTCACTCTGAATTCCCTGTCCCTGCCGCCCCTGGCTGCCACTGAGCTTTCTGCCTCTGTGGATTTGCCTGTACTGGGTATTGCATATAAAGGGAACCACACAGTATGCAGCCTCTGTGACTGGCTTCTCTCGCTCAGCAGTGTCTTCAAGGGTCATCCGCCTACTGGCATCAGAGCTTCATTCCCTTCCGCTGCCAAATAGTGTCCCACAGTGGGCACAGTGTTCTGTTCTGTGGGTCCATTCATCTACTGATGGACAGGTGGGGGTTCCTGCTTTGTGGCTATTTGTGATTCACACTGCCCCTGTCATTTTTCACTCAAAGGGACCAAGAGATCTGAACTGAGAAGTATTCTGGAGCCCAGAAGCTTGGACCCTGGGGAGAAACAGCTAATCATGATCTGAGCCTTCCTCCCGCCCAGGAAGGAAAACCCAGGCCTGTCTCTTTCTAGCACCGTTTCCCTGGAAACCTTTTCCTGGGTTCAGGCAATCAGCACCACCCATGTGTGCACCAGGTTTACAACAACCCCTTCCTGGAACTCCCTCTGGACTGGGAGGCCAGTGGGGACACCATGGAGCTGAGGACGTCCTGGACCTGCCTCGACTGCCTGTGGGGAAACATGGCCCTCGCTTCTCTGAGTGGCATCTCATGACTGAGAGAGTCCCTTTGGGGACTGAGATGCTCCTTTCCAGACCTGGTGCAAGGCGTGACTCCTGCTGACAATGGGGCTTCCTCAGGACAGCACTGCCCTCCCACGGGGTTTTGCTCCTATCCTCAGCTTGTCCCTGCAGAGCTGGGCGTGCCCAGCAACTGCATGCAGGCATGCCGTGAAGGTGTATCAAACGCTGATGTGACAGGTGCCTCCTGCCTTACAGCTGAGGATGAATCTGAACATGTCAGAGTCCAGGGAATGCCCTGCTGGGTCCCGGGAACCCAGATGTCAACCTGAGCCAGGATCCATGTCCCAGACAAATGGAAGGACTACCCCAGCAGGAGGGCACGCTCCCCACCTGCTGTGTCCCAACCCCAGGGCAGGGGCTGCTGACCTGGAAGGTGACCCACAAGGTATAGAGCTGGGCGGCTTTCCTCGTTATAGGTGGAGTCTTGGCCCAGATGTCCGAGAGCCGAGCATGTCCGGTGACGATGTCCACCACAGGGCCAGTCAGGGCGCAGCTGTACTGGTCACAAGCCATGATGAAGTAGTAGACGATGAAGGGGGCGAACAGCAGTAGGAAGATGACGCTCGCCAGTGAAAACCAGTCCACCTCCCTGCGAGGACGGATGCAGGCAGTCACACTGGGGCCCATCTGCCCTGGGCCCCACCAGGACCCTAAGAGGCTCTGTGTGGGAGAACTGTTGCTCAAACCCACCAGTACCCCATGACAGAAGGCATTAGCTCCTAGCACGGGCCCTCCTTGCGGCCAGGGAAGCCACTCAACATGCCTGCTCTACTGTAGTTGATTAACTGGTGGCACTATCTGTGGCCCCCATGGAAGGCCCAGAGCTCAGAATATGAGCGGAGGTAGGTCTTTCACAACCACCAAGGCCAGTGGTTTCCCCAGTTCCAGGTCGGAGAGGATACTCACCCTGCACGAAGTCCCCATGGTTCTATGGCGAAATGGGAGCTGTGACAATAGGTCATACCCCCAGATGGTGGGAAGGCCCCAGCTGCCCTTTAAGCCTTTATCTTTTTTTCTAAGTTGTTGACTGACCATGATTTCTAGTTTCTTTTTATAATTCCTTACTTTATAAAGTGGAAAACTGTTTACCTTTCATTAGTCTTGACAAAAAAAAAAAAATCTTTTTTAAAAAGGTCCTTCATTCCTTTGGGTCCATACAATTCCAAAGGCTGGAAAGCTCTGAGACCACACTTTACTTTCTAGCTGGGAGAACAGGCAAGATCCTTACCAGGCACGGCCCCACTGCCCTTGAGATGCGGTTCTGTCATTGGTGACGCCATCTAGACTCTTGGCTTTGGGAATGTTGGGTTGCGATTTTGCAGCCATTGGGCCCTGCAAGAAAGAGAACCTTGCTTACATTATCCCTCAAATAACAGACACCACCTTTCCCTGTTGCATCCACCACTGCTCCTGGGCCTGGCAGGGCTGGCCTCCTGTGCACATCTTCCCGGTACCTTGTTCCTGACAGCAGATTCCAGGCAGGGAAGAGATCATCTTGTCTTAGACTCTCTTCCTTGGACCCTGCAATCACCTCCCACGTGACCTTGCTATGGCTGCTCTTGCTAGTCTCAGTTCATTCTCCAAACATGGCAGAATGCCCCCCCTCTTACAGCACAAGCTGGCTCCTGCCTCCCTCCTACACACCACTCTCCCCTATTCTCCTTTGGCTCCAGGAACACAGGGGTCTTCACTCATCCTTGAACACAGTTTAAATTGTCTGTGGCACTGACTTCCTCTGCTTAGAGCACGTTTGCAGGTGTCCTTGTTCAGGGCTCATGTAAAATGTCCCCTCCTGGGGAGATCTTCCCTCTCAGCCAATCTGAAGCAGCTGCTCCCCAGCTTCCCTGCCAAGGCCCTCCACTGGGTACTTTATTTTCTTAGTAACTCTCCCCATCGCCTAGAAGTATTCATTTGTGTGTGTGTATTGTCTGTCTCCCCTCACTAGAATGTAAGCTTCCCAAGGGCAGGAATTGTGTGTCCTCTTCATTGTTCTACTACCAGGGCCTAGAACAGTGGCCCATGTAGGACCATCAATAATCACCCTTCAAAAAAAAGGGGAAGAGAACACAGAATGTCTCTAGGTACCCACAGCTGCTCTACATGGTTATAATTTGGGGGAAGCAGTGACATCCCCACTTCCAGAACAAGTTCATAACTGTGAAGCTTTAAAATATCTGAGATTTTTTAAAAGATGCTCTTGAAAGCTTTTAGAGAAAAAACAGGAGTAAAAATCACAGTAGGCTTAGATTTCTCAACAGCAAGCTGGATTCTAGAAGACAATGATGAAAAACTTCAAAATTTTGAGGAAAACTTTTTGCAACCTAGAATTCTACTCCTATGTGAACTATTACTCAAGGACAACAACATAGGATCCAGGAAACTGGAGACCCAAGAGAGCTGCTGAAGCCATGTCCACAAAAGGGCAGGGGCAAGTCCCAAGAGGACAGCTATGCAGCAGGACTAACCAGAAACCAGTCCACATTGGTACAAGATGAATGGCTAGGAAAGAGAGGAAATGAAAATGATGAATTTTGTTGCATCTGAATGTGTAGGAAAATTATTGATATATGTGACAGCTCGGTTA
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TTTGAGGCCTGGTGCTGTGAAAAATCCAAGCAAAATGGATTTCTATCCTGTGACAAGTCTTAGGGACAAAGCAGCGCTGGGGAGGACTGGCCCCTGAGAGAAAGGGATGAGAACGGGAGCCTGGGGAGGGTGGAAGGGAGGAGGCTACCTGCAGGAGTCACGGCCCCCTCCTGGATGCCTCCTACGTAGCCGGGTAGAAACTTATGGCAGAAGTCAGGGAGAGACGTGTACAGAAGCACCTGAAACACACAAGCAGCCTGATCACCCCCCGCCTGGAGGGCACCTGCAAAGGGGGACGCATAGCAGGAACATGAGAATCACAATCATAGTCTTTTTCTTCCTGAAGCACTTATGGCTCCTGGAAGCTCAAACTGCTGGGCTGTGGGTTTTGAAGGGGGTTCTGAGACAATAAACTCATCAACCAGGGAAGGTGCCAAGGCGTTCTCCCCCAGGGCTCCATTCGCCCCTCAGGAGAGCGCACAGGTCCCTCCCAGTCACCTTTTTAAAATGGAGAATCCCATAAAATTCAACTTTTTATATATATATATAAATCTATCTTTGAGATGAGGTCTTGTTCTACCACCCAGGCTGGAGTGTAGTGGTGCAATCATAGCTCACCGCAGCGTTGTCCTCCTGAGCTCAAGTGATCCTTCCACCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTGCACCACCACACCCGGCTAAAATTCACCCTTTTAAAGTGCACAATTCAGCGGCATTTAGCGCATTTACATGGTTGGTTGTACACCTATCACTGCTAATTCCAGAACTTTTCATCACCACAGAAGAAAATGTTGTTCCAATCTCCGGTCACTCTGAATTCCCTGTCCCTGCCGCCCCTGGCTGCCACTGAGCTTTCTGCCTCTGTGGATTTGCCTGTACTGGGTATTGCATATAAAGGGAACCACACAGTATGCAGCCTCTGTGACTGGCTTCTCTCGCTCAGCAGTGTCTTCAAGGGTCATCCGCCTACTGGCATCAGAGCTTCATTCCCTTCCGCTGCCAAATAGTGTCCCACAGTGGGCACAGTGTTCTGTTCTGTGGGTCCATTCATCTACTGATGGACAGGTGGGGGTTCCTGCTTTGTGGCTATTTGTGATTCACACTGCCCCTGTCATTTTTCACTCAAAGGGACCAAGAGATCTGAACTGAGAAGTATTCTGGAGCCCAGAAGCTTGGACCCTGGGGAGAAACAGCTAATCATGATCTGAGCCTTCCTCCCGCCCAGGAAGGAAAACCCAGGCCTGTCTCTTTCTAGCACCGTTTCCCTGGAAACCTTTTCCTGGGTTCAGGCAATCAGCACCACCCATGTGTGCACCAGGTTTACAACAACCCCTTCCTGGAACTCCCTCTGGACTGGGAGGCCAGTGGGGACACCATGGAGCTGAGGACGTCCTGGACCTGCCTCGACTGCCTGTGGGGAAACATGGCCCTCGCTTCTCTGAGTGGCATCTCATGACTGAGAGAGTCCCTTTGGGGACTGAGATGCTCCTTTCCAGACCTGGTGCAAGGCGTGACTCCTGCTGACAATGGGGCTTCCTCAGGACAGCACTGCCCTCCCACGGGGTTTTGCTCCTATCCTCAGCTTGTCCCTGCAGAGCTGGGCGTGCCCAGCAACTGCATGCAGGCATGCCGTGAAGGTGTATCAAACGCTGATGTGACAGGTGCCTCCTGCCTTACAGCTGAGGATGAATCTGAACATGTCAGAGTCCAGGGAATGCCCTGCTGGGTCCCGGGAACCCAGATGTCAACCTGAGCCAGGATCCATGTCCCAGACAAATGGAAGGACTACCCCAGCAGGAGGGCACGCTCCCCACCTGCTGTGTCCCAACCCCAGGGCAGGGGCTGCTGACCTGGAAGGTGACCCACAAGGTATAGAGCTGGGCGGCTTTCCTCGTTATAGGTGGAGTCTTGGCCCAGATGTCCGAGAGCCGAGCATGTCCGGTGACGATGTCCACCACAGGGCCAGTCAGGGCGCAGCTGTACTGGTCACAAGCCATGATGAAGTAGTAGACGATGAAGGAGGCGAACAGCAGTAGGAAGATGACGCTCGCCAGTGAAAACCAGTCCACCTCCCTGCGAGGACGGATGCAGGCAGTCACACTGGGGCCCATCTGCCCTGGGCCCCACCAGGACCCTAAGAGGCTCTGTGTGGGAGAACTGTTGCTCAAACCCACCAGTACCCCATGACAGAAGGCATTAGCTCCTAGCACGGGCCCTCCTTGCGGCCAGGGAAGCCACTCAACATGCCTGCTCTACTGTAGTTGATTAACTGGTGGCACTATCTGTGGCCCCCATGGAAGGCCCAGAGCTCAGAATATGAGCGGAGGTAGGTCTTTCACAACCACCAAGGCCAGTGGTTTCCCCAGTTCCAGGTCGGAGAGGATACTCACCCTGCACGAAGTCCCCATGGTTCTATGGCGAAATGGGAGCTGTGACAATAGGTCATACCCCCAGATGGTGGGAAGGCCCCAGCTGCCCTTTAAGCCTTTATCTTTTTTTCTAAGTTGTTGACTGACCATGATTTCTAGTTTCTTTTTATAATTCCTTACTTTATAAAGTGGAAAACTGTTTACCTTTCATTAGTCTTGACAAAAAAAAAAAAATCTTTTTTAAAAAGGTCCTTCATTCCTTTGGGTCCATACAATTCCAAAGGCTGGAAAGCTCTGAGACCACACTTTACTTTCTAGCTGGGAGAACAGGCAAGATCCTTACCAGGCACGGCCCCACTGCCCTTGAGATGCGGTTCTGTCATTGGTGACGCCATCTAGACTCTTGGCTTTGGGAATGTTGGGTTGCGATTTTGCAGCCATTGGGCCCTGCAAGAAAGAGAACCTTGCTTACATTATCCCTCAAATAACAGACACCACCTTTCCCTGTTGCATCCACCACTGCTCCTGGGCCTGGCAGGGCTGGCCTCCTGTGCACATCTTCCCGGTACCTTGTTCCTGACAGCAGATTCCAGGCAGGGAAGAGATCATCTTGTCTTAGACTCTCTTCCTTGGACCCTGCAATCACCTCCCACGTGACCTTGCTATGGCTGCTCTTGCTAGTCTCAGTTCATTCTCCAAACATGGCAGAATGCCCCCCCTCTTACAGCACAAGCTGGCTCCTGCCTCCCTCCTACACACCACTCTCCCCTATTCTCCTTTGGCTCCAGGAACACAGGGGTCTTCACTCATCCTTGAACACAGTTTAAATTGTCTGTGGCACTGACTTCCTCTGCTTAGAGCACGTTTGCAGGTGTCCTTGTTCAGGGCTCATGTAAAATGTCCCCTCCTGGGGAGATCTTCCCTCTCAGCCAATCTGAAGCAGCTGCTCCCCAGCTTCCCTGCCAAGGCCCTCCACTGGGTACTTTATTTTCTTAGTAACTCTCCCCATCGCCTAGAAGTATTCATTTGTGTGTGTGTATTGTCTGTCTCCCCTCACTAGAATGTAAGCTTCCCAAGGGCAGGAATTGTGTGTCCTCTTCATTGTTCTACTACCAGGGCCTAGAACAGTGGCCCATGTAGGACCATCAATAATCACCCTTCAAAAAAAAGGGGAAGAGAACACAGAATGTCTCTAGGTACCCACAGCTGCTCTACATGGTTATAATTTGGGGGAAGCAGTGACATCCCCACTTCCAGAACAAGTTCATAACTGTGAAGCTTTAAAATATCTGAGATTTTTTAAAAGATGCTCTTGAAAGCTTTTAGAGAAAAAACAGGAGTAAAAATCACAGTAGGCTTAGATTTCTCAACAGCAAGCTGGATTCTAGAAGACAATGATGAAAAACTTCAAAATTTTGAGGAAAACTTTTTGCAACCTAGAATTCTACTCCTATGTGAACTATTACTCAAGGACAACAACATAGGATCCAGGAAACTGGAGACCCAAGAGAGCTGCTGAAGCCATGTCCACAAAAGGGCAGGGGCAAGTCCCAAGAGGACAGCTATGCAGCAGGACTAACCAGAAACCAGTCCACATTGGTACAAGATGAATGGCTAGGAAAGAGAGGAAATGAAAATGATGAATTTTGTTGCATCTGAATGTGTAGGAAAATTATTGATATATGTGACAGCTCGGTTA
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Task1_train_16258
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The gene DHCR7 (7-dehydrocholesterol reductase), on Chromosome 11, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Smith-Lemli-Opitz syndrome
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CAGAACTTTTCATCACCACAGAAGAAAATGTTGTTCCAATCTCCGGTCACTCTGAATTCCCTGTCCCTGCCGCCCCTGGCTGCCACTGAGCTTTCTGCCTCTGTGGATTTGCCTGTACTGGGTATTGCATATAAAGGGAACCACACAGTATGCAGCCTCTGTGACTGGCTTCTCTCGCTCAGCAGTGTCTTCAAGGGTCATCCGCCTACTGGCATCAGAGCTTCATTCCCTTCCGCTGCCAAATAGTGTCCCACAGTGGGCACAGTGTTCTGTTCTGTGGGTCCATTCATCTACTGATGGACAGGTGGGGGTTCCTGCTTTGTGGCTATTTGTGATTCACACTGCCCCTGTCATTTTTCACTCAAAGGGACCAAGAGATCTGAACTGAGAAGTATTCTGGAGCCCAGAAGCTTGGACCCTGGGGAGAAACAGCTAATCATGATCTGAGCCTTCCTCCCGCCCAGGAAGGAAAACCCAGGCCTGTCTCTTTCTAGCACCGTTTCCCTGGAAACCTTTTCCTGGGTTCAGGCAATCAGCACCACCCATGTGTGCACCAGGTTTACAACAACCCCTTCCTGGAACTCCCTCTGGACTGGGAGGCCAGTGGGGACACCATGGAGCTGAGGACGTCCTGGACCTGCCTCGACTGCCTGTGGGGAAACATGGCCCTCGCTTCTCTGAGTGGCATCTCATGACTGAGAGAGTCCCTTTGGGGACTGAGATGCTCCTTTCCAGACCTGGTGCAAGGCGTGACTCCTGCTGACAATGGGGCTTCCTCAGGACAGCACTGCCCTCCCACGGGGTTTTGCTCCTATCCTCAGCTTGTCCCTGCAGAGCTGGGCGTGCCCAGCAACTGCATGCAGGCATGCCGTGAAGGTGTATCAAACGCTGATGTGACAGGTGCCTCCTGCCTTACAGCTGAGGATGAATCTGAACATGTCAGAGTCCAGGGAATGCCCTGCTGGGTCCCGGGAACCCAGATGTCAACCTGAGCCAGGATCCATGTCCCAGACAAATGGAAGGACTACCCCAGCAGGAGGGCACGCTCCCCACCTGCTGTGTCCCAACCCCAGGGCAGGGGCTGCTGACCTGGAAGGTGACCCACAAGGTATAGAGCTGGGCGGCTTTCCTCGTTATAGGTGGAGTCTTGGCCCAGATGTCCGAGAGCCGAGCATGTCCGGTGACGATGTCCACCACAGGGCCAGTCAGGGCGCAGCTGTACTGGTCACAAGCCATGATGAAGTAGTAGACGATGAAGGGGGCGAACAGCAGTAGGAAGATGACGCTCGCCAGTGAAAACCAGTCCACCTCCCTGCGAGGACGGATGCAGGCAGTCACACTGGGGCCCATCTGCCCTGGGCCCCACCAGGACCCTAAGAGGCTCTGTGTGGGAGAACTGTTGCTCAAACCCACCAGTACCCCATGACAGAAGGCATTAGCTCCTAGCACGGGCCCTCCTTGCGGCCAGGGAAGCCACTCAACATGCCTGCTCTACTGTAGTTGATTAACTGGTGGCACTATCTGTGGCCCCCATGGAAGGCCCAGAGCTCAGAATATGAGCGGAGGTAGGTCTTTCACAACCACCAAGGCCAGTGGTTTCCCCAGTTCCAGGTCGGAGAGGATACTCACCCTGCACGAAGTCCCCATGGTTCTATGGCGAAATGGGAGCTGTGACAATAGGTCATACCCCCAGATGGTGGGAAGGCCCCAGCTGCCCTTTAAGCCTTTATCTTTTTTTCTAAGTTGTTGACTGACCATGATTTCTAGTTTCTTTTTATAATTCCTTACTTTATAAAGTGGAAAACTGTTTACCTTTCATTAGTCTTGACAAAAAAAAAAAAATCTTTTTTAAAAAGGTCCTTCATTCCTTTGGGTCCATACAATTCCAAAGGCTGGAAAGCTCTGAGACCACACTTTACTTTCTAGCTGGGAGAACAGGCAAGATCCTTACCAGGCACGGCCCCACTGCCCTTGAGATGCGGTTCTGTCATTGGTGACGCCATCTAGACTCTTGGCTTTGGGAATGTTGGGTTGCGATTTTGCAGCCATTGGGCCCTGCAAGAAAGAGAACCTTGCTTACATTATCCCTCAAATAACAGACACCACCTTTCCCTGTTGCATCCACCACTGCTCCTGGGCCTGGCAGGGCTGGCCTCCTGTGCACATCTTCCCGGTACCTTGTTCCTGACAGCAGATTCCAGGCAGGGAAGAGATCATCTTGTCTTAGACTCTCTTCCTTGGACCCTGCAATCACCTCCCACGTGACCTTGCTATGGCTGCTCTTGCTAGTCTCAGTTCATTCTCCAAACATGGCAGAATGCCCCCCCTCTTACAGCACAAGCTGGCTCCTGCCTCCCTCCTACACACCACTCTCCCCTATTCTCCTTTGGCTCCAGGAACACAGGGGTCTTCACTCATCCTTGAACACAGTTTAAATTGTCTGTGGCACTGACTTCCTCTGCTTAGAGCACGTTTGCAGGTGTCCTTGTTCAGGGCTCATGTAAAATGTCCCCTCCTGGGGAGATCTTCCCTCTCAGCCAATCTGAAGCAGCTGCTCCCCAGCTTCCCTGCCAAGGCCCTCCACTGGGTACTTTATTTTCTTAGTAACTCTCCCCATCGCCTAGAAGTATTCATTTGTGTGTGTGTATTGTCTGTCTCCCCTCACTAGAATGTAAGCTTCCCAAGGGCAGGAATTGTGTGTCCTCTTCATTGTTCTACTACCAGGGCCTAGAACAGTGGCCCATGTAGGACCATCAATAATCACCCTTCAAAAAAAAGGGGAAGAGAACACAGAATGTCTCTAGGTACCCACAGCTGCTCTACATGGTTATAATTTGGGGGAAGCAGTGACATCCCCACTTCCAGAACAAGTTCATAACTGTGAAGCTTTAAAATATCTGAGATTTTTTAAAAGATGCTCTTGAAAGCTTTTAGAGAAAAAACAGGAGTAAAAATCACAGTAGGCTTAGATTTCTCAACAGCAAGCTGGATTCTAGAAGACAATGATGAAAAACTTCAAAATTTTGAGGAAAACTTTTTGCAACCTAGAATTCTACTCCTATGTGAACTATTACTCAAGGACAACAACATAGGATCCAGGAAACTGGAGACCCAAGAGAGCTGCTGAAGCCATGTCCACAAAAGGGCAGGGGCAAGTCCCAAGAGGACAGCTATGCAGCAGGACTAACCAGAAACCAGTCCACATTGGTACAAGATGAATGGCTAGGAAAGAGAGGAAATGAAAATGATGAATTTTGTTGCATCTGAATGTGTAGGAAAATTATTGATATATGTGACAGCTCGGTTAGAGCATCCAGAAAAAAATGAATGAGAGATGCATAGAAACCTTACCAAATGAAAAAAAAAAAAAAAAAAAAAGGAAGGCAACTGTTAACTCCAGGAAAAATAAAAAGTCATATAAGGAAGGAAAAAAAGAAACCAAGCCATTATTATAGGACCTTACTTGGCTCAACAGTGAATAATGGTAATTTTGTCATAACAATGTATACTCTGACTATTTATTGACTATTGTATGCACAGAAGGGAATTTGCAAAGTTAGGGGTACTAAAAGGAAATTACTTAGAAACAAGTAGGTACAAACAACAACACAAAAGTAGCTGAAAGAATGAAAAGTGTTTGCTGCTGGCAAGCAAGACTGTCGGATGTGGGATGTGGTAGAGAGTATTTCTTCTGAAGCCTTTTAACACTGATTTTTAAAAAAATGTGTGCATGAATTACTTTAATAAAAATTCACACACATTTAAAAAATTTCAACGATGAAAGACATTTTCCTTATGCAGTGTGAGAACTTCAGTACCCGCACTTCATTCAATTTACACAAGTTAGTTTATGCAGTTCCTATGATGCACAAAACAAGACGAAGAGTTCTTGATAGGAAGAGACCGTGTCTCTCTCCGGCCCCAAATACTGAATACAGAGCCTGGCGAGTGCCAGTCACTCTCCTTATATCTGTAAAATCAAAGTGGATGAAAGAAAACTACTTCTGAGAAAAGCTGACACGCTAGTGAGTCTGATCTCAAGATCACAGCCACCTGGACAAGCTGGCTTGCTTTAGACAGTTCCTCTCCCCCAGGC
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CAGAACTTTTCATCACCACAGAAGAAAATGTTGTTCCAATCTCCGGTCACTCTGAATTCCCTGTCCCTGCCGCCCCTGGCTGCCACTGAGCTTTCTGCCTCTGTGGATTTGCCTGTACTGGGTATTGCATATAAAGGGAACCACACAGTATGCAGCCTCTGTGACTGGCTTCTCTCGCTCAGCAGTGTCTTCAAGGGTCATCCGCCTACTGGCATCAGAGCTTCATTCCCTTCCGCTGCCAAATAGTGTCCCACAGTGGGCACAGTGTTCTGTTCTGTGGGTCCATTCATCTACTGATGGACAGGTGGGGGTTCCTGCTTTGTGGCTATTTGTGATTCACACTGCCCCTGTCATTTTTCACTCAAAGGGACCAAGAGATCTGAACTGAGAAGTATTCTGGAGCCCAGAAGCTTGGACCCTGGGGAGAAACAGCTAATCATGATCTGAGCCTTCCTCCCGCCCAGGAAGGAAAACCCAGGCCTGTCTCTTTCTAGCACCGTTTCCCTGGAAACCTTTTCCTGGGTTCAGGCAATCAGCACCACCCATGTGTGCACCAGGTTTACAACAACCCCTTCCTGGAACTCCCTCTGGACTGGGAGGCCAGTGGGGACACCATGGAGCTGAGGACGTCCTGGACCTGCCTCGACTGCCTGTGGGGAAACATGGCCCTCGCTTCTCTGAGTGGCATCTCATGACTGAGAGAGTCCCTTTGGGGACTGAGATGCTCCTTTCCAGACCTGGTGCAAGGCGTGACTCCTGCTGACAATGGGGCTTCCTCAGGACAGCACTGCCCTCCCACGGGGTTTTGCTCCTATCCTCAGCTTGTCCCTGCAGAGCTGGGCGTGCCCAGCAACTGCATGCAGGCATGCCGTGAAGGTGTATCAAACGCTGATGTGACAGGTGCCTCCTGCCTTACAGCTGAGGATGAATCTGAACATGTCAGAGTCCAGGGAATGCCCTGCTGGGTCCCGGGAACCCAGATGTCAACCTGAGCCAGGATCCATGTCCCAGACAAATGGAAGGACTACCCCAGCAGGAGGGCACGCTCCCCACCTGCTGTGTCCCAACCCCAGGGCAGGGGCTGCTGACCTGGAAGGTGACCCACAAGGTATAGAGCTGGGCGGCTTTCCTCGTTATAGGTGGAGTCTTGGCCCAGATGTCCGAGAGCCGAGCATGTCCGGTGACGATGTCCACCACAGGGCCAGTCAGGGCGCAGCTGTACTGGTCACAAGCCATGATGAAGTAGTAGACGATGAAGGGGGCGAACAGCAGTAGGAAGATGACGCTCGCCAGTGAAAACCAGTCCACCTCCCTGCGAGGACGGATGCAGGCAGTCACACTGGGGCCCATCTGCCCTGGGCCCCACCAGGACCCTAAGAGGCTCTGTGTGGGAGAACTGTTGCTCAAACCCACCAGTACCCCATGACAGAAGGCATTAGCTCCTAGCACGGGCCCTCCTTGCGGCCAGGGAAGCCACTCAACATGCCTGCTCTACTGTAGTTGATTAACTGGTGGCACTATCTGTGGCCCCCATGGAAGGCCCAGAGCTCAGAATATGAGCGGAGGTAGGTCTTTCACAACCACCAAGGCCAGTGGTTTCCCCAGTTCCAGGTCGGAGAGGATACTCACCCTGCACGAAGTCCCCATGGTTCTATGGCGAAATGGGAGCTGTGACAATAGGTCATACCCCCAGATGGTGGGAAGGCCCCAGCTGCCCTTTAAGCCTTTATCTTTTTTTCTAAGTTGTTGACTGACCATGATTTCTAGTTTCTTTTTATAATTCCTTACTTTATAAAGTGGAAAACTGTTTACCTTTCATTAGTCTTGACAAAAAAAAAAAAATCTTTTTTAAAAAGGTCCTTCATTCCTTTGGGTCCATACAATTCCAAAGGCTGGAAAGCTCTGAGACCACACTTTACTTTCTAGCTGGGAGAACAGGCAAGATCCTTACCAGGCACGGCCCCACTGCCCTTGAGATGCGGTTCTGTCATTGGTGACGCCATCTAGACTCTTGGCTTTGGGAATGTTGGGTTGCGATTTTGCAGCCAGTGGGCCCTGCAAGAAAGAGAACCTTGCTTACATTATCCCTCAAATAACAGACACCACCTTTCCCTGTTGCATCCACCACTGCTCCTGGGCCTGGCAGGGCTGGCCTCCTGTGCACATCTTCCCGGTACCTTGTTCCTGACAGCAGATTCCAGGCAGGGAAGAGATCATCTTGTCTTAGACTCTCTTCCTTGGACCCTGCAATCACCTCCCACGTGACCTTGCTATGGCTGCTCTTGCTAGTCTCAGTTCATTCTCCAAACATGGCAGAATGCCCCCCCTCTTACAGCACAAGCTGGCTCCTGCCTCCCTCCTACACACCACTCTCCCCTATTCTCCTTTGGCTCCAGGAACACAGGGGTCTTCACTCATCCTTGAACACAGTTTAAATTGTCTGTGGCACTGACTTCCTCTGCTTAGAGCACGTTTGCAGGTGTCCTTGTTCAGGGCTCATGTAAAATGTCCCCTCCTGGGGAGATCTTCCCTCTCAGCCAATCTGAAGCAGCTGCTCCCCAGCTTCCCTGCCAAGGCCCTCCACTGGGTACTTTATTTTCTTAGTAACTCTCCCCATCGCCTAGAAGTATTCATTTGTGTGTGTGTATTGTCTGTCTCCCCTCACTAGAATGTAAGCTTCCCAAGGGCAGGAATTGTGTGTCCTCTTCATTGTTCTACTACCAGGGCCTAGAACAGTGGCCCATGTAGGACCATCAATAATCACCCTTCAAAAAAAAGGGGAAGAGAACACAGAATGTCTCTAGGTACCCACAGCTGCTCTACATGGTTATAATTTGGGGGAAGCAGTGACATCCCCACTTCCAGAACAAGTTCATAACTGTGAAGCTTTAAAATATCTGAGATTTTTTAAAAGATGCTCTTGAAAGCTTTTAGAGAAAAAACAGGAGTAAAAATCACAGTAGGCTTAGATTTCTCAACAGCAAGCTGGATTCTAGAAGACAATGATGAAAAACTTCAAAATTTTGAGGAAAACTTTTTGCAACCTAGAATTCTACTCCTATGTGAACTATTACTCAAGGACAACAACATAGGATCCAGGAAACTGGAGACCCAAGAGAGCTGCTGAAGCCATGTCCACAAAAGGGCAGGGGCAAGTCCCAAGAGGACAGCTATGCAGCAGGACTAACCAGAAACCAGTCCACATTGGTACAAGATGAATGGCTAGGAAAGAGAGGAAATGAAAATGATGAATTTTGTTGCATCTGAATGTGTAGGAAAATTATTGATATATGTGACAGCTCGGTTAGAGCATCCAGAAAAAAATGAATGAGAGATGCATAGAAACCTTACCAAATGAAAAAAAAAAAAAAAAAAAAAGGAAGGCAACTGTTAACTCCAGGAAAAATAAAAAGTCATATAAGGAAGGAAAAAAAGAAACCAAGCCATTATTATAGGACCTTACTTGGCTCAACAGTGAATAATGGTAATTTTGTCATAACAATGTATACTCTGACTATTTATTGACTATTGTATGCACAGAAGGGAATTTGCAAAGTTAGGGGTACTAAAAGGAAATTACTTAGAAACAAGTAGGTACAAACAACAACACAAAAGTAGCTGAAAGAATGAAAAGTGTTTGCTGCTGGCAAGCAAGACTGTCGGATGTGGGATGTGGTAGAGAGTATTTCTTCTGAAGCCTTTTAACACTGATTTTTAAAAAAATGTGTGCATGAATTACTTTAATAAAAATTCACACACATTTAAAAAATTTCAACGATGAAAGACATTTTCCTTATGCAGTGTGAGAACTTCAGTACCCGCACTTCATTCAATTTACACAAGTTAGTTTATGCAGTTCCTATGATGCACAAAACAAGACGAAGAGTTCTTGATAGGAAGAGACCGTGTCTCTCTCCGGCCCCAAATACTGAATACAGAGCCTGGCGAGTGCCAGTCACTCTCCTTATATCTGTAAAATCAAAGTGGATGAAAGAAAACTACTTCTGAGAAAAGCTGACACGCTAGTGAGTCTGATCTCAAGATCACAGCCACCTGGACAAGCTGGCTTGCTTTAGACAGTTCCTCTCCCCCAGGC
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Task1_train_16259
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This mutation occurs in NADSYN1 (NAD synthetase 1) on Chromosome 11. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Vertebral, cardiac, renal, and limb defects syndrome 3
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GCGATCCGTAGGCAGGGCCTGACGCCGCAGTCCTCCTTGGCCGGAGCCTCAACGGATGGGCGGGGAGGGGGCGGGGCCGGGCAACCCGGAAGGTCCGGCGTCCCAGCCGCCTACCTCGCTGGGACCCTGGTCTTGCTGTCCCCCGCTGGCCTCCTGCCCAAGCGACTGCGGCCAGGATGGGCCGGAAGGTGACCGTGGCCACCTGCGCACTCAACCAGTGGGCCCTGGACTTCGAGGGCAATTTGCAAAGAATTTTAAAGAGTGAGTCTGGGGCGGCGGGGGCACCGGTTTGGGGTGGCGCACGGGCACCGTGGCTGGGCCCAGGCTTGCCCGTGGCGTGCTCACAGCCTTGCCCTGGGAAACTCTCGGCCCTGGGCATGGGATCAGGTGAGATAATGGGCAATGACCCCGCCAGTGGTACGTGCTCAGGTCCTCGTCGGGAAGTGAGTGTTTATAGTTCCCGGGGACGAGCGATATACAAGGCACGGTTAAGAAAAGTCTGGCGGCTTAGGCGGGAGGCCTGGGGATGGACCCGTGTTCTGATATCTCTGGGGTCCCGTGGTTGGGACTGAGCTGCCCATTCTCGGAGATATCTAAGTTGAACAGAATGGCTGCGCACTGGCGGGGATGGTGTGCAGAGGCCAGAGATTGATGGTCTCTGGTCCCCGTGGGCCTTCCTGGTGGGAGAAGGCGTCCCAGAAAGGGAAGTAGAAAAAGACGCCTGTCATCCCAGCATTTTGGGGGGGCCGGAGGGGGTGGAAGTCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCATCATGGTGAAACACCGTCTCTACTAAAAATACAAAAATCAGCCGGGCGTGGTGGCCTCGAAGATAGGGTGTGGTTGTTGAAAGGTCACCATCTAATTTTCGTTCATATGGACGCACCGTGGAGGATGAAAAGTTAAACTATTACACCTGCACCTAAATGGGCAAGCCTGCAGGTGTAGTCAGGTTGCAGCTTGTCTTGCACTGGTCTGCTGACTGCAAGAGCCTTTGCCAGGAACAATAGAAACAGAATGTTTCAAGAGATGGCATCTAATCAGTATGTGCCCTGGATTATTATTATGATTATTATTATTTGACATGGACTGTCACTCTGTTGCCCTGGCTGGAGTGCAGTGGTGTCATCTTGGCTCACTGCAGTCTCTGCCTCCTGGGCTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTCTGCCACCATGCATGGCCAATTTCTGTATTTTTAGTAGAGACAAGGTTTCACCATGGTGGCCATGCTGGCCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCACCGCAGCCAGTGGTTTTTTATTTTTATTTTTTAAATATCAACCTGCTTTCACCTCATTTGCTCAGAGCAAATCTAGTTGAACTGAAGAAGGCTTGGCCAAAACTAAGTTTCCACTCTGCCAGCCTCTCCTCCCTAGGTGCTTGTTGGAAGCTGCTGCCCAAGACCAGTAAGCCGATGGTGCCTGACAGTGGCACCACTGCTGGATCGTAATCCTCTAAGTCCTTTTTCCTCTAGATGGTGTTGGGCATTTCCTTGTTAATAAACTACCAGGGTCTGACTTCTTCCTCTTCCTCCGCCTCCTCCATGGTGCTAAGGGTCAGACCTGCAAGCCCTCCCTGTTTCTCATTTCCTGCAGATATAAGCAGGTATATGCAAGTATAAGCAGGTGCAGGCGTACTCGTGTATACAGGTGTATACAGGTGTATGCTGCCCTCTGCTGCCATGCTGTCAACAGGAAGCCTGACTGCATCCCGTCTGGGAAGGCACAGAGCATTTTTGTTTGTTGTTTGTTTTTTTTTTTATCCTACCTACTGCAGCAGGTTGTTTCATCTGTCTTTGAGTGTATAGGTGCTGAAATTGCTCCATTTTCTTTTTCTCTCTGTACTTACAGGTATTGAAATTGCCAAAAACAGAGGAGCAAGATACAGGCTTGGACCAGAGCTGGAAATATGGTGAGAACAGACACAGACACCCTGGGGTCGTCAGCTAGCGATACCAGCATCAGTTTTCCCCAGCTGAGAAGGCAAGGAAGGAGCAGGGACAGTCCTGAGAGCTGTGGACACGCCACACCCACTGTTGGGCCTGGTTAATGCCATTGAACACCTGAGCAAGGGCAGGCCCAGGGAGGCTGAATAAGTCTAGATTCCCATGTTGAGTAATTAAAAGAACTGACTTTTACCAGATGAAGGCCAGTTTCAAAGTTGGGCTGCTTCTGTGTTACCACTGCCCTTTTGCTGTGGTCTGAATGTTTGCGTCCCCACAAAATTCATATGTTGAAACCTAACCCCCAGATGATGGAATTAAGAGATGAGGCCTTTGGCAGGTGATTGGGTCATGAGGGCATGAGAGTGGAGCCTGCATGAATGGGATTAGTGCTCTTACAAGAGAGGCCCAAAGGAGCTTGTTGGCCCCTTCTACCATGTGAGGACACAGAGAAGGAGACAACCAGTCCTTACCAGATACCAAATCTGCCAGCACCTTGATCGTGGGCTTCCCAGCCTCCAGAACTGTGAGCAATACATTTCTGCTGTTTATTAATTACCCAGTCCAAGGTGTTTTGTTATAGCAGGCTGAAGGACCAAGACATATTCCCAGGTTTTCATTCCGTGATCTCAGAATCTTTCCACAAGCAAGCATAGGTTATCGTTTCTTATATGCCTTTTTGTAAAAATCAGGAAAACTGATTGCTTATTTCCCTTCTTGTCCCTTCAAAAACAAAAACAAAAATGAAAACAAAACAATGAGTAGCCACGTTGTAAGTCTCTTGTAAGCGATAGTCCTTTCTCATTTTGGATGTCAGCTGCCATCTGTGCTCTGCTAGTTTCCCGTTGGTCTTTAGGCCTCTGACCCGTTGTGGGATCTGGAAGTTCCTCTTCAGTCTTTGTCCCCTGCCTTAGTGTGTGTTCTTGCTTCTGGACTTAGAGTAAGCAGGAACTGTCTTCTCTTAGGAGGTTTTGTGTGAGTCCAGAGGCATCTTTCTCTAAGTCCTTCCAAGTTTCTTTCCTTCATTAGATTGATTTCTCTCCTTAGAATACCACCTTCAAATAGGGCTGTTTCTCCCATAATATCCAAGAATGTTTACTTTGTTCTTTAATTTGTCTTCATTTGATTGATTCTTTAAGAAATTCTTCACCTAAGTGCCAAGGGATCTAGGGTTCTGGGCTGTCTGATATCACAAAGCTTCGATCCTCTCCTGGCCCCGTGGCCGGATCTTCTCCTGGGCTGGACTCAAGGCCTGATCGTCTCGTGAGCCTGACCTCTCCTGGGCTGGTCCGGGGGCCTGATCCTCATGTCCTGTCTGCTGCTTGCCCTGGAGGAGCTGCAGTGGTGACAGCCCAGTCCCCCTGGCCTGATGTTGCCCAGATGCTTAGAGTTTACGTCTTCTTTTCTTTCTTCGTCCTAGTCTCTCTCTCCTATAAATGTTACATCCACCTCTCTCTTTCCTCCAAATATGGACCTGTTTCATTTTAAAAGTGGGAGGATGTCTAACTAAAGGCCCCCGGGATGGAATATTTGCATCCAGCAGGGACAGGGGCCCAGCTGAGCAGGTCTCCAAGTAGCTTACAACCTGCTGAGCAGGCTCCTGTGAAATATTCCAACAACTTACAGAGAGGAAACCGAGGCAGGAGAGGAGGGACATCACTTCACTGAGCACACCGCCTCTTGTTCTTACTGGTTAGAGGTCCAGCACCTGATACACAGGGAGGGCCCAGTGGCCCTAGAGCAGGCTGACTCATGGACCAGAGACCCTCTCACCTAGAAAAGTCAGCAGTTTCCTTTGAGCTGGTGCTGGAAGCTTTGGAAAGGGAAGGCTACCACCCAAATGGCCCCAGGACCAGCTCCTGCTGCTGACTCACCGAAGGGGTGAGAGGCCTCTGGTCGCTGGATGCCATGCAGCGGGACGTGTGGTGTTATAACGTTATTTGGTTTCACATGTGGGCCAGGACGCCAACAGGGCATGAAAACCCATGAAACGGATCCGTTGGAGGAGAAAGGAC
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GCGATCCGTAGGCAGGGCCTGACGCCGCAGTCCTCCTTGGCCGGAGCCTCAACGGATGGGCGGGGAGGGGGCGGGGCCGGGCAACCCGGAAGGTCCGGCGTCCCAGCCGCCTACCTCGCTGGGACCCTGGTCTTGCTGTCCCCCGCTGGCCTCCTGCCCAAGCGACTGCGGCCAGGATGGGCCGGAAGGTGACCGTGGCCACCTGCGCACTCAACCAGTGGGCCCTGGACTTCGAGGGCAATTTGCAAAGAATTTTAAAGAGTGAGTCTGGGGCGGCGGGGGCACCGGTTTGGGGTGGCGCACGGGCACCGTGGCTGGGCCCAGGCTTGCCCGTGGCGTGCTCACAGCCTTGCCCTGGGAAACTCTCGGCCCTGGGCATGGGATCAGGTGAGATAATGGGCAATGACCCCGCCAGTGGTACGTGCTCAGGTCCTCGTCGGGAAGTGAGTGTTTATAGTTCCCGGGGACGAGCGATATACAAGGCACGGTTAAGAAAAGTCTGGCGGCTTAGGCGGGAGGCCTGGGGATGGACCCGTGTTCTGATATCTCTGGGGTCCCGTGGTTGGGACTGAGCTGCCCATTCTCGGAGATATCTAAGTTGAACAGAATGGCTGCGCACTGGCGGGGATGGTGTGCAGAGGCCAGAGATTGATGGTCTCTGGTCCCCGTGGGCCTTCCTGGTGGGAGAAGGCGTCCCAGAAAGGGAAGTAGAAAAAGACGCCTGTCATCCCAGCATTTTGGGGGGGCCGGAGGGGGTGGAAGTCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCATCATGGTGAAACACCGTCTCTACTAAAAATACAAAAATCAGCCGGGCGTGGTGGCCTCGAAGATAGGGTGTGGTTGTTGAAAGGTCACCATCTAATTTTCGTTCATATGGACGCACCGTGGAGGATGAAAAGTTAAACTATTACACCTGCACCTAAATGGGCAAGCCTGCAGGTGTAGTCAGGTTGCAGCTTGTCTTGCACTGGTCTGCTGACTGCAAGAGCCTTTGCCAGGAACAATAGAAACAGAATGTTTCAAGAGATGGCATCTAATCAGTATGTGCCCTGGATTATTATTATGATTATTATTATTTGACATGGACTGTCACTCTGTTGCCCTGGCTGGAGTGCAGTGGTGTCATCTTGGCTCACTGCAGTCTCTGCCTCCTGGGCTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTCTGCCACCATGCATGGCCAATTTCTGTATTTTTAGTAGAGACAAGGTTTCACCATGGTGGCCATGCTGGCCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCACCGCAGCCAGTGGTTTTTTATTTTTATTTTTTAAATATCAACCTGCTTTCACCTCATTTGCTCAGAGCAAATCTAGTTGAACTGAAGAAGGCTTGGCCAAAACTAAGTTTCCACTCTGCCAGCCTCTCCTCCCTAGGTGCTTGTTGGAAGCTGCTGCCCAAGACCAGTAAGCCGATGGTGCCTGACAGTGGCACCACTGCTGGATCGTAATCCTCTAAGTCCTTTTTCCTCTAGATGGTGTTGGGCATTTCCTTGTTAATAAACTACCAGGGTCTGACTTCTTCCTCTTCCTCCGCCTCCTCCATGGTGCTAAGGGTCAGACCTGCAAGCCCTCCCTGTTTCTCATTTCCTGCAGATATAAGCAGGTATATGCAAGTATAAGCAGGTGCAGGCGTACTCGTGTATACAGGTGTATACAGGTGTATGCTGCCCTCTGCTGCCATGCTGTCAACAGGAAGCCTGACTGCATCCCGTCTGGGAAGGCACAGAGCATTTTTGTTTGTTGTTTGTTTTTTTTTTTATCCTACCTACTGCAGCAGGTTGTTTCATCTGTCTTTGAGTGTATAGGTGCTGAAATTGCTCCATTTTCTTTTTCTCTCTGTACTTACAGGTATTGAAATTGCCAAAAACAGAGGAGCAAGATACAGGCTTGGACCAGAGCTGGAAATACGGTGAGAACAGACACAGACACCCTGGGGTCGTCAGCTAGCGATACCAGCATCAGTTTTCCCCAGCTGAGAAGGCAAGGAAGGAGCAGGGACAGTCCTGAGAGCTGTGGACACGCCACACCCACTGTTGGGCCTGGTTAATGCCATTGAACACCTGAGCAAGGGCAGGCCCAGGGAGGCTGAATAAGTCTAGATTCCCATGTTGAGTAATTAAAAGAACTGACTTTTACCAGATGAAGGCCAGTTTCAAAGTTGGGCTGCTTCTGTGTTACCACTGCCCTTTTGCTGTGGTCTGAATGTTTGCGTCCCCACAAAATTCATATGTTGAAACCTAACCCCCAGATGATGGAATTAAGAGATGAGGCCTTTGGCAGGTGATTGGGTCATGAGGGCATGAGAGTGGAGCCTGCATGAATGGGATTAGTGCTCTTACAAGAGAGGCCCAAAGGAGCTTGTTGGCCCCTTCTACCATGTGAGGACACAGAGAAGGAGACAACCAGTCCTTACCAGATACCAAATCTGCCAGCACCTTGATCGTGGGCTTCCCAGCCTCCAGAACTGTGAGCAATACATTTCTGCTGTTTATTAATTACCCAGTCCAAGGTGTTTTGTTATAGCAGGCTGAAGGACCAAGACATATTCCCAGGTTTTCATTCCGTGATCTCAGAATCTTTCCACAAGCAAGCATAGGTTATCGTTTCTTATATGCCTTTTTGTAAAAATCAGGAAAACTGATTGCTTATTTCCCTTCTTGTCCCTTCAAAAACAAAAACAAAAATGAAAACAAAACAATGAGTAGCCACGTTGTAAGTCTCTTGTAAGCGATAGTCCTTTCTCATTTTGGATGTCAGCTGCCATCTGTGCTCTGCTAGTTTCCCGTTGGTCTTTAGGCCTCTGACCCGTTGTGGGATCTGGAAGTTCCTCTTCAGTCTTTGTCCCCTGCCTTAGTGTGTGTTCTTGCTTCTGGACTTAGAGTAAGCAGGAACTGTCTTCTCTTAGGAGGTTTTGTGTGAGTCCAGAGGCATCTTTCTCTAAGTCCTTCCAAGTTTCTTTCCTTCATTAGATTGATTTCTCTCCTTAGAATACCACCTTCAAATAGGGCTGTTTCTCCCATAATATCCAAGAATGTTTACTTTGTTCTTTAATTTGTCTTCATTTGATTGATTCTTTAAGAAATTCTTCACCTAAGTGCCAAGGGATCTAGGGTTCTGGGCTGTCTGATATCACAAAGCTTCGATCCTCTCCTGGCCCCGTGGCCGGATCTTCTCCTGGGCTGGACTCAAGGCCTGATCGTCTCGTGAGCCTGACCTCTCCTGGGCTGGTCCGGGGGCCTGATCCTCATGTCCTGTCTGCTGCTTGCCCTGGAGGAGCTGCAGTGGTGACAGCCCAGTCCCCCTGGCCTGATGTTGCCCAGATGCTTAGAGTTTACGTCTTCTTTTCTTTCTTCGTCCTAGTCTCTCTCTCCTATAAATGTTACATCCACCTCTCTCTTTCCTCCAAATATGGACCTGTTTCATTTTAAAAGTGGGAGGATGTCTAACTAAAGGCCCCCGGGATGGAATATTTGCATCCAGCAGGGACAGGGGCCCAGCTGAGCAGGTCTCCAAGTAGCTTACAACCTGCTGAGCAGGCTCCTGTGAAATATTCCAACAACTTACAGAGAGGAAACCGAGGCAGGAGAGGAGGGACATCACTTCACTGAGCACACCGCCTCTTGTTCTTACTGGTTAGAGGTCCAGCACCTGATACACAGGGAGGGCCCAGTGGCCCTAGAGCAGGCTGACTCATGGACCAGAGACCCTCTCACCTAGAAAAGTCAGCAGTTTCCTTTGAGCTGGTGCTGGAAGCTTTGGAAAGGGAAGGCTACCACCCAAATGGCCCCAGGACCAGCTCCTGCTGCTGACTCACCGAAGGGGTGAGAGGCCTCTGGTCGCTGGATGCCATGCAGCGGGACGTGTGGTGTTATAACGTTATTTGGTTTCACATGTGGGCCAGGACGCCAACAGGGCATGAAAACCCATGAAACGGATCCGTTGGAGGAGAAAGGAC
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Task1_train_16260
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Here is a genetic alteration in NADSYN1 (NAD synthetase 1) on Chromosome 11. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; NADSYN1-related disorder
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ATGAACCGCTTCTCTCAGAGGGGCCCTCCAAGGTTAACCTGAAAGACGGGTTCAGGCCATGACTGGGAGTGGGGGGTGATCGGGGGTCGGACAGGCCTCATTTACCCTCCTCCCTTTTGGAAAAGCCGACCAGCATGAGCATCAACACAGACCTTAAGTCTCATAAGAAACATTTACAGTCTGTTCTCTCTGAAGCCTGCTACTTGGAGGTTTCATTTACATCATAAAACTTTGGTCTCCACAACCCGCTATCATAACCCAGACATTCCTTTCTATTGATAATAACTCTTTCAACCAATTGCCAGTCAGAACTGTTTAAATCCACCTATGGCCTGGAAGCCCGTCCCTGGCCCCCTCGAGTTGGTCCTGCCTTTCCAGTTCGAGCAGTGCCCATCTTGTATGTATTGAGTGACGTCTTCTGTCTCCCTGAAATGTGTACAAGCAGGCTGTGCCCTGACCACCGCAGGCACGTGTAGTTAGGACCCCCTCGGGCTGTGTCAGGAGTGCATCCTTCACCTGGGCAAAATAAATGTTCTAAATGGACTGAGACCTGTCTCAGATACTTTTGGGTTCACACCGGTTACTTAGCCAGTGGCAAGGCTGGAATTGGAACTCCACACCATCCACATTTGGTTTTTCTTCCCCTGAAACACTTTTGCTGTCGGGTCACACCTCTGGCAGGCGCCTGTGCTTTTCTTCGACACTGTGTCCTCTCAGTGCCCCTATGAGGGTCATCTTCCCCTTGTGCTGCCCTGATCTGGCCCAAACCTCCTGTCGGGTCACTCTGGTCCCCACTCGAGTGCCCCCAGCCAGGCCGCCCTCTCCTGCTATGGTCCCCTTATCTGCAGGGGGAGATGATAGGGTGTTGGCGAGGTGATGGGAGCGTGAAGCCAAGACCCAGTCCCGAGAAAGGGCCAGCCCGGAGCAGCAAATGGAGGGGTTCCACCTGTCCCAGGTGGTGGGTGGAAATGAGCTCAGGGCGGACAGGTGCTGAAAAGTGGATGCCTCAGGTTAGCATAAGGCAATTTGGAAGGGGAAGGGGAGGAGGCAACAGAGGCTGGAACATTCCAGGAGGAGAGGGAAGAACCCTGTGGTGGAATGAATTTGCCCTTCATTGAGAAGAAGCTCCTCTAGGCTTAGAGTCGGTGCTGCCTGGGTGGCAGAACCATCTCGGCTCCTTTTAGCTTTGATTTGAGGGTGCCACAGAAGAGCCTTGCAGTTCTCCGAAGGGATCGGAGGAAGCTTCGTAGTAAAGTAAAATGCATGATTCCAGAGCTGCAGCCGCTGCCTCCATGTGCTCTGTGTTTCATAACCGGGCAGACACACATGTACCTCCCCTCTCTCCTGCAGGCCTGTAATGCACCGAAACGTCCGCTACAACTGCAGAGTGATATTCCTCAACAGGTAGGCCCCCTGCCCCCACCCCGGGAGGGTGACTGGGGCCTCTCCCTGGCTCTCAGCTGAGGGCTGCCAGGACCCGTGCTGGTGCCCTGGGGACCCGTTGCTGGGAGGCTGCTTCTGGAAGTGCCCGGGCTTAGTGAGGGCCGATGCACCAGGCAGGTGATCCGGGTGCCTTTGCTTTTCTGGGTCTCAGCCACCACCGAGACAGGCATCATCAGGTATCAGAAGGAGAGAGACGCAGAGGGTGGGGGTGTGGGGACACAGGTCCTTGTGGCCTGGAAGCCAGTCCAGGTGAGCAAGTTCCCTTGGAGCGCCTGGTCACCAGCTGCTGGGGAGGCGCACACCTTCTGGGGCTTAGCTGCTTCATCGTTGACGGTCACGAATGGATGCAGCCATGGGGACCCGAGTCATAGAAAGCGGAAGCCCAGAGAAGGAGAGAGATTTGCTCGGGGCCCCATTCTCAAGCTGACTCTGCATGGCATCACCTCGTCACTTGGTGGCACTGACCACCGCCAGTGGCACGTTCATCTCAGGAGCCCGGTGTGCACAGCCCTGTTCCCCTGTCTGCAGGAAGATCCTGCTCATCAGACCCAAGATGGCCTTGGCCAATGAAGGCAACTACCGCGAGCTGCGCTGGTTCACCCCGTGGTCGAGGAGTCGGTGAGTCGGGTGCCTGACCACTCCTGGGATGTGCGTTAAGCACCTCCGCTGTGTGTAGCCTTGGGTCCTGATCATGGGAGTGTTACCGGTGGAGGGTGTCCAGGTTTTTGACATTTTGAACAAAGAATGGGACAAAAAGCACAAAGAAAGCCAAAAAAGAATGAAGCAACCAAAGGAGAGAGTGATTGAAAATGAAAGCCCCCTCCACAGGGTGGGAGCAGCCCCGGCAGGGGCTCAGGGCGCGGTTACACAATGTCCCGGGGTTTAAATATCCTCTAGAGGCTTCCCATCGGTTACTTGGTGTGAGCCCCATGTAAATGAAGAGGCTGAAGTGGAGTTACAAAGTTATTTACTTGGTGTACACACTATGCAAATAAAAAGGGTGTTTCCTGTCTGAAGTAGTTACAAAGTTATTTACTTGGTCTTAGAAAGCTGGGGTTTTGGGCTGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGATGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGTGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCAAGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGAGCAACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAGCGGGGTTTTTCTGTTTGATTTAGTTCTAGGAAGTGCTTAGGTTCCCTGCCCCCAGACCCTATTCTACCTCAGCAGTGTCACAGATATCGACTAGCTGGGGCCAATGGTGCAGGCAGTAAAGGAATTTACCAAGACAGTTGTAGGTAAAGAGAGGCAGATTTATTAGAGAAGGTATGAAAGTATGTTACAATATCGCAACAGGCAGCACAGCAGAGAAGGGGCTGTCTGCAGAGAGGCAGGGGCTGGAGGGAAGTTTTATAGCATTGTGCTGGAGGGGGCTACATTGGGGATGAGGTAGAACTGCGGGGGCCACTGCGGAAGGAGGTCATTGTGCCTGTGTAGGACATTGTGCCCTCAGAACAACTGTTCATTGTTCTCCACATCTGGGGCCCCATACTCATTGCTTCCTTATCTGATCAGGCCTCTGCAAGTAGAAGATGCACAGAAACATGGACTAGGGTCTCCATCCCCTGGTGCCAGTCCCTTATATGCCTGATTTGATGCTGCTGATTAAATTGTAGCCATGTTCAGCGCAGATCACATGGAACTCTCAGTCATCAATCAGGGATATCAGTCATGTTAGGTGAAGTGCCACTTCCATCTTGAATGATACTGAATTTCCATCTTCACCCGGTTGACATTTGGGTCATTCTTTGTCATGGGGCGTCGGCCATGTGCATCCTCAGGCATTTACTGGCATAGCTGGTCTCCCCACAGATGCTCCCAGTTGTGACAACCAAAAATGTCCCCAGACATTACCAGATGTCCCCTGGGGGGTAAAATGCCCCGGTTGAGAAATTCTACTCTCCATTTTTATTACAGTTATTTCTGTTTTTTATTGTTGTTATTGTAAATGGACTCTTTAATATTATATTTTTAAGTGGTTAATTTTTTATATAGGAAAACTTGATTTTTATGTTGCTTTTGTAATTGACTACCTCATTAAATTCTCCTATTGTGTCTGTTGGTTAGTCTGTTGATTTTTGTAGTTTTTCTTTTAAGTTGAACTTATATAATATACAATGAATTTTCCTTTTCCTTTCCAGTATTTGCACCTCTTGGTTCATTTTCTTAACTTTTGTTGGCCAGCATTTCTAGAACAATGTTCTAGATCATTTCTGGAGCAAAATTCTTTGCTAATGGGCAATTTCGTCTTTTTCCTGACTTTCCTTGGAAAGCTCTTCATGTTTCTGCATTTGATTTGGGGCTTATATCTATCTCTAGCTAGTCTTACTTCAGGTTTTTAAAAATTGAGAATGGATGTTGAGTTTATCCCATGTC
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ATGAACCGCTTCTCTCAGAGGGGCCCTCCAAGGTTAACCTGAAAGACGGGTTCAGGCCATGACTGGGAGTGGGGGGTGATCGGGGGTCGGACAGGCCTCATTTACCCTCCTCCCTTTTGGAAAAGCCGACCAGCATGAGCATCAACACAGACCTTAAGTCTCATAAGAAACATTTACAGTCTGTTCTCTCTGAAGCCTGCTACTTGGAGGTTTCATTTACATCATAAAACTTTGGTCTCCACAACCCGCTATCATAACCCAGACATTCCTTTCTATTGATAATAACTCTTTCAACCAATTGCCAGTCAGAACTGTTTAAATCCACCTATGGCCTGGAAGCCCGTCCCTGGCCCCCTCGAGTTGGTCCTGCCTTTCCAGTTCGAGCAGTGCCCATCTTGTATGTATTGAGTGACGTCTTCTGTCTCCCTGAAATGTGTACAAGCAGGCTGTGCCCTGACCACCGCAGGCACGTGTAGTTAGGACCCCCTCGGGCTGTGTCAGGAGTGCATCCTTCACCTGGGCAAAATAAATGTTCTAAATGGACTGAGACCTGTCTCAGATACTTTTGGGTTCACACCGGTTACTTAGCCAGTGGCAAGGCTGGAATTGGAACTCCACACCATCCACATTTGGTTTTTCTTCCCCTGAAACACTTTTGCTGTCGGGTCACACCTCTGGCAGGCGCCTGTGCTTTTCTTCGACACTGTGTCCTCTCAGTGCCCCTATGAGGGTCATCTTCCCCTTGTGCTGCCCTGATCTGGCCCAAACCTCCTGTCGGGTCACTCTGGTCCCCACTCGAGTGCCCCCAGCCAGGCCGCCCTCTCCTGCTATGGTCCCCTTATCTGCAGGGGGAGATGATAGGGTGTTGGCGAGGTGATGGGAGCGTGAAGCCAAGACCCAGTCCCGAGAAAGGGCCAGCCCGGAGCAGCAAATGGAGGGGTTCCACCTGTCCCAGGTGGTGGGTGGAAATGAGCTCAGGGCGGACAGGTGCTGAAAAGTGGATGCCTCAGGTTAGCATAAGGCAATTTGGAAGGGGAAGGGGAGGAGGCAACAGAGGCTGGAACATTCCAGGAGGAGAGGGAAGAACCCTGTGGTGGAATGAATTTGCCCTTCATTGAGAAGAAGCTCCTCTAGGCTTAGAGTCGGTGCTGCCTGGGTGGCAGAACCATCTCGGCTCCTTTTAGCTTTGATTTGAGGGTGCCACAGAAGAGCCTTGCAGTTCTCCGAAGGGATCGGAGGAAGCTTCGTAGTAAAGTAAAATGCATGATTCCAGAGCTGCAGCCGCTGCCTCCATGTGCTCTGTGTTTCATAACCGGGCAGACACACATGTACCTCCCCTCTCTCCTGCAGGCCTGTAATGCACCGAAACGTCCGCTACAACTGCAGAGTGATATTCCTCAACAGGTAGGCCCCCTGCCCCCACCCCGGGAGGGTGACTGGGGCCTCTCCCTGGCTCTCAGCTGAGGGCTGCCAGGACCCGTGCTGGTGCCCTGGGGACCCGTTGCTGGGAGGCTGCTTCTGGAAGTGCCCGGGCTTAGTGAGGGCCGATGCACCAGGCAGGTGATCCGGGTGCCTTTGCTTTTCTGGGTCTCAGCCACCACCGAGACAGGCATCATCAGGTATCAGAAGGAGAGAGACGCAGAGGGTGGGGGTGTGGGGACACAGGTCCTTGTGGCCTGGAAGCCAGTCCAGGTGAGCAAGTTCCCTTGGAGCGCCTGGTCACCAGCTGCTGGGGAGGCGCACACCTTCTGGGGCTTAGCTGCTTCATCGTTGACGGTCACGAATGGATGCAGCCATGGGGACCCGAGTCATAGAAAGCGGAAGCCCAGAGAAGGAGAGAGATTTGCTCGGGGCCCCATTCTCAAGCTGACTCTGCATGGCATCACCTCGTCACTTGGTGGCACTGACCACCGCCAGTGGCACGTTCATCTCAGGAGCCCGGTGTGCACAGCCCTGTTCCCCTGTCTGCAGGAAGATCCTGCTCATCAGACCCAAGATGGCCTTGGCCAATGAAGGCAACTACCGCGAGCTGCGCTGGTTCACCCCGTTGTCGAGGAGTCGGTGAGTCGGGTGCCTGACCACTCCTGGGATGTGCGTTAAGCACCTCCGCTGTGTGTAGCCTTGGGTCCTGATCATGGGAGTGTTACCGGTGGAGGGTGTCCAGGTTTTTGACATTTTGAACAAAGAATGGGACAAAAAGCACAAAGAAAGCCAAAAAAGAATGAAGCAACCAAAGGAGAGAGTGATTGAAAATGAAAGCCCCCTCCACAGGGTGGGAGCAGCCCCGGCAGGGGCTCAGGGCGCGGTTACACAATGTCCCGGGGTTTAAATATCCTCTAGAGGCTTCCCATCGGTTACTTGGTGTGAGCCCCATGTAAATGAAGAGGCTGAAGTGGAGTTACAAAGTTATTTACTTGGTGTACACACTATGCAAATAAAAAGGGTGTTTCCTGTCTGAAGTAGTTACAAAGTTATTTACTTGGTCTTAGAAAGCTGGGGTTTTGGGCTGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGATGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGTGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCAAGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGAGCAACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAGCGGGGTTTTTCTGTTTGATTTAGTTCTAGGAAGTGCTTAGGTTCCCTGCCCCCAGACCCTATTCTACCTCAGCAGTGTCACAGATATCGACTAGCTGGGGCCAATGGTGCAGGCAGTAAAGGAATTTACCAAGACAGTTGTAGGTAAAGAGAGGCAGATTTATTAGAGAAGGTATGAAAGTATGTTACAATATCGCAACAGGCAGCACAGCAGAGAAGGGGCTGTCTGCAGAGAGGCAGGGGCTGGAGGGAAGTTTTATAGCATTGTGCTGGAGGGGGCTACATTGGGGATGAGGTAGAACTGCGGGGGCCACTGCGGAAGGAGGTCATTGTGCCTGTGTAGGACATTGTGCCCTCAGAACAACTGTTCATTGTTCTCCACATCTGGGGCCCCATACTCATTGCTTCCTTATCTGATCAGGCCTCTGCAAGTAGAAGATGCACAGAAACATGGACTAGGGTCTCCATCCCCTGGTGCCAGTCCCTTATATGCCTGATTTGATGCTGCTGATTAAATTGTAGCCATGTTCAGCGCAGATCACATGGAACTCTCAGTCATCAATCAGGGATATCAGTCATGTTAGGTGAAGTGCCACTTCCATCTTGAATGATACTGAATTTCCATCTTCACCCGGTTGACATTTGGGTCATTCTTTGTCATGGGGCGTCGGCCATGTGCATCCTCAGGCATTTACTGGCATAGCTGGTCTCCCCACAGATGCTCCCAGTTGTGACAACCAAAAATGTCCCCAGACATTACCAGATGTCCCCTGGGGGGTAAAATGCCCCGGTTGAGAAATTCTACTCTCCATTTTTATTACAGTTATTTCTGTTTTTTATTGTTGTTATTGTAAATGGACTCTTTAATATTATATTTTTAAGTGGTTAATTTTTTATATAGGAAAACTTGATTTTTATGTTGCTTTTGTAATTGACTACCTCATTAAATTCTCCTATTGTGTCTGTTGGTTAGTCTGTTGATTTTTGTAGTTTTTCTTTTAAGTTGAACTTATATAATATACAATGAATTTTCCTTTTCCTTTCCAGTATTTGCACCTCTTGGTTCATTTTCTTAACTTTTGTTGGCCAGCATTTCTAGAACAATGTTCTAGATCATTTCTGGAGCAAAATTCTTTGCTAATGGGCAATTTCGTCTTTTTCCTGACTTTCCTTGGAAAGCTCTTCATGTTTCTGCATTTGATTTGGGGCTTATATCTATCTCTAGCTAGTCTTACTTCAGGTTTTTAAAAATTGAGAATGGATGTTGAGTTTATCCCATGTC
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Task1_train_16261
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Here is a genetic alteration in NUMA1 (nuclear mitotic apparatus protein 1) on Chromosome 11. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Myoepithelial tumor
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GGCAACACAGAGATGATTCCCATGAGAAAGAGGCAGCCAGACCATGTGACCCCCACTCCCCCGCCCCCATCTGGTATAGACCCCTCCTGCTCCTTCACCCTCGGTCTTCCTGCTACAGACATCTCTATGCTGTGCTCGGGGTTAGAGCCCCAGAAAGTGATGGGCAAGTGTCCTAAGCCCACAATCCTCCCTAACCTGTGGGGGCTGCCTCGCATATCACCTTCAAGGCTTCCATAAAGCTGTACTCTGGGAAAAAGGGACACCATGTTAAACAAGGCCGACACGGTAATTCTGCTGTTCCTCTTAGTCGGGTATCCTTAACTAGACACAGTACTTGGGAAGTTCTCGAATCCCAAGGATTGTGTCTGTCATTGGTTCAGGGTGGGAAAGATGAAGCCAGTGCTACCCCTTGTCCCTGATAGGCAAATGAGAGAAGGTGCAGAAGGGTGGAGAGGCCGACCTGGGATGGGTGGGATGAGGCCTGAGAGAGCCCAGCACACCACACTCCTGGGCAGCCTGGGCCTGGATTCCATGGCTTGACCCTGCCCCCTTCACAAACAGTTCACAACAGGAGCTGGCGGAGGCAAGCTGCAGCCGGGCTCATGCACCAAGACTGGTCACCGTTTAAGCAGCCAGCATTTAGCGAGGACCTCAGGCATTACCTGCTTAGTTTGCTCTCTCTGAAATACCTCTAGCTGCTCCACCTGTACATGGGGGAGGAGCAACAGAGACAGAGTGAGATGAGGCCAAAGAAGCACCAGCCCTGCTGCCAGGCTGACCTCACTGAGGCTCTGATACTTTCCCCTAAGGAGCTAGATTGACAGTAAGTTTAAAAATGCCAGTTAGGCTGATTCTAATCCCCAGTGGCTCCTGAGGCATCCAGTGCAGGTGTGCCTCTGAACAGGCTGGTGGTCATCACAACTTGACTCTCTAGTGACAGAGCCTTCAGGGGAGGGGAGGCCACTGACATTTTCTTTAGGATGACAGGGGCAACAGACTTGAACTCCACCAGCCACCTCTCCTTTTCTGCCACCCAGTGAATGAGGAAAGGCAAGACACTCCAGTGTAGGAGCTAGAGGCCCTGGACACAGAGGATCGATGTCCCCGCGCTCTCAGCTCCTGATCTTTGGGAGGGTGGTTGGGCTGAGTACCTTACCTGGGCAGTGAGTTTCTGCCTCTCTTCCTGGAACCGCTGCCTCTCCTCCAGGACCTTGACCTTGGCACCCTCATACTTGGCAGTCATCACCTCCAGCTCCCGGGCAGTGCTCTGTGCTTCTCGCTGCACCTCAGCCAGACGGGTCTCAGCATCAGCACGTACGGCTGCCAACTCTTGGACATACTTCTCCCGGGCCTGGTCCAACTCCACTTCCAGAAACTGCCGGCCAAGGTTGGCCCGCTCACCCAGCCCCCGGTTCTCCTCTGCCAGCAGGCCATGCGCCTTCTTCAGCATGCTCAGCTGCTCTGCATAGCTGGCCTTCTCTGCCCGCAGCTGCTGAGCTGTTCGCTCCTGCTCTGCCACCTTCTGCCGCAGAGGAATCAGCTCCCCAAGCTCCCGCTGGGCCCGCAGCAGCTCTGCCCGCAGTCCCCCAGCGGCCTGCTTGCTCTGCTCCAGCTCCTCACGGTGGCGTTTCTCGGCAGCGGCCTGCTCGGCCTGCAGCTGCTGGCAGAGGTGCTTAGCTGGCAGCAGCTCACTCACCAGGGCCTGTGTGCTGGTGTGCTCGAGCTGCAGGGTGGAGAGGGCCTGCTCTTTCTGGAAGAACTTCTCCTGCCACGCCTTCAATTCTTGGCCCAGCTCCTCCGCACGCTCAGCCTGTGAGGTCAGCTCCTGCCGCAGGTTCTCTGAAGCCACCCGCTGTTTCTCAGCCTCCTCCCGGAGGCTCTGCACCTCCTCCCGCAGAGCAGAGCTGCGTTCTGCAGCTCTGGCACTGTTGCTGGCTGTCTCTGCCTGCAGCAGGCGCAGCCTCTCCTCCAGCTTCTGGCTCTTCTCTGACTCGGCCATCACCAGCCGCTTCAACTCCTTGCTCTCCCCCTCCTTCTCCAGGACCTGGCGATTCAGGATGGACACCTCCTCCTCCAAGCTGCTGATGAGGCTATTTTTCCTCTCAGCCTCTTGCCGGCCCCGGGCCACCTGGGCCTTCCACTCATCTTCAGCCTTGCTGTGGTCTTGTACCTTGGTGCGGAAGGCAGCCAACTCCCGTTGGGCCGAGGCTAAGGCACTCTGACTGTGCCCTAGCTCCTGGGCCTTCTCCTCTAACTGGCCCTGCAGAGTCTCCAGAGCACTGTCCCGCTCAGCCCGGGAGGCCCGCTCAGCCTCGAGGCTGCGTTCCAGGCTGTCAGCCTGCTCCTGCTGCTTCTGGCATTGCTGTTCCAGCTTGCTCACCTCTGCCCGCAGTGCCTCCAGCTTGGGGCCTGTTGGCTCTGTCCTGCCAGCAGCCTCAGATTGGGCTCCTGAGCCAGATGCGTGCTCCTTTTCTTTCTTAGCCAGCTGTTCCTTCAGTTGCTTCACGGTTTGCCGAAGTTCCTCCAGCTCTTTTATCTGGGCTGCCTCCAGACCACGAAGCTTGGCCAACTCCTGGTCCTTGCCTTCCTTTTCCGTCAGGGCATGAGCCAGTGCCTCTTGCAGGGTAGCGAACTCCACACGCTGCTCGTTGAGGGCGTTCTGCAGCCGCATCTCAAGCTCTGCTCTGGCCGCCTTCTCCAGGGCAAGGTCAGCCTGGGCACGGCCCCGCTCCTGGGTCAGCCGCGCCACCTCCCTTTCCTGCTGCCCACGCTCCTCCTGCTGCTGCCCCTGGCTCTCCATCAGCGCGGCCCGCAGCCGTTCCAGCTCATTGCCCATCTGCTCTGCCTCCCGCTCCATAGCCTGCAGCGCTGCCTGTGTGCTGCAGAACTGGCGTCCCTGTTGCTCTTCCAGCCACTCGGGCTGTCTGTCTCCTGCCCTCGCAGGCTCCTTGACTAACTCCCGGGAGGCTGTTTCCTGCTGCTCACCTGCCTTGCGCACCAAGGTCTCCAAGCGGGCCACCTCTTTGCTGGTGGCAGCCATCTTTTCCTGCAGAGTGGAGAGGTCATCTGCAAGCTTCTGGGCCCTGACTTCCTTCTCTTGGACCTGCTGGAGTGCTCTGGCCAGGTTGGCATGGAGCTCAGCTAGTTCGTTCTGCTGCCGGCTTATCTGGAGCTCGCTGTGGGATTCTATGCCTGCCACCTTCTCCTTTGCCTCCTGCAGCTCCTGGCGGGCCTTCTCACATTCCTCCTTCAAAGTCATCAGCTGTTCCTGGAACATGGCGCCATACTGTGCCTCCTCTTGCTGGCTATCCTCATACCGCTCACGCCAGGCAGCTACTTCTTTGACGAGCTGCTCACACTCACTCTCAGCTGTGTGCTGGGCAGCCATGGCCTCTGCCAGCTCCCGCCGCAGGACTTCAGTCTCAGCCTGATGGGCCTCCCCAAGCTGCTGTAATCGAGCCTCCAGCCCCTTGCGCCCAGCCCTCTCTTCTTCCAGCTCCTTTCGTTCCCGCTTATGCTGCTCCACCAGGCTTCGGGTCTCTGCCTTCAGCTCAGAGATACAACGCTGCTGCTCTTCCAGGGCATCTGCAGCCCTGCGCTTCTCCTCTTCAAGGCTGCCCTTGGTGACCTTCAAGGACTCTTTGAGGGCCTGGAGCTGCTCCTGGAGCTGGTCCTTCTCCTGGGCCACCCTTTCTTTCTCAGTTGCTTTTTGCTGCTCAGACCGCAGCTGCAACTCTAGCTCTGCAACCTGGGCCTGGGCCTCATGCTGTTCCTGGCGGGCTGTCTCAACACAGGCCTGGAGTTCCTCCACCTTCCGGCTCAGCTCTGCCTTCTCCCGCTGGGCCTGTGTCACTGAGGTCTGGGCACTGTCCCGGGCTTCATTAGCCACCTGAAGTTGCTGCTGCAGAATCTCCAGCTTGGCAGCCTTCTCCTTCTCCAGTGCCTCCAGCTGCTTGAGAGCCGCATCCCGCTCCCTTAAGGAGGCCTCTCGCTCCTCTGCAGCAGTGGCCAGTTGCTGGGCATGGTCCTGCCTAGTTGCCTCCTGCTTCTCCGCTACCTCCTTCAACTGCTGCTCCTTCTGCTTCAGGCTACTGCT
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GGCAACACAGAGATGATTCCCATGAGAAAGAGGCAGCCAGACCATGTGACCCCCACTCCCCCGCCCCCATCTGGTATAGACCCCTCCTGCTCCTTCACCCTCGGTCTTCCTGCTACAGACATCTCTATGCTGTGCTCGGGGTTAGAGCCCCAGAAAGTGATGGGCAAGTGTCCTAAGCCCACAATCCTCCCTAACCTGTGGGGGCTGCCTCGCATATCACCTTCAAGGCTTCCATAAAGCTGTACTCTGGGAAAAAGGGACACCATGTTAAACAAGGCCGACACGGTAATTCTGCTGTTCCTCTTAGTCGGGTATCCTTAACTAGACACAGTACTTGGGAAGTTCTCGAATCCCAAGGATTGTGTCTGTCATTGGTTCAGGGTGGGAAAGATGAAGCCAGTGCTACCCCTTGTCCCTGATAGGCAAATGAGAGAAGGTGCAGAAGGGTGGAGAGGCCGACCTGGGATGGGTGGGATGAGGCCTGAGAGAGCCCAGCACACCACACTCCTGGGCAGCCTGGGCCTGGATTCCATGGCTTGACCCTGCCCCCTTCACAAACAGTTCACAACAGGAGCTGGCGGAGGCAAGCTGCAGCCGGGCTCATGCACCAAGACTGGTCACCGTTTAAGCAGCCAGCATTTAGCGAGGACCTCAGGCATTACCTGCTTAGTTTGCTCTCTCTGAAATACCTCTAGCTGCTCCACCTGTACATGGGGGAGGAGCAACAGAGACAGAGTGAGATGAGGCCAAAGAAGCACCAGCCCTGCTGCCAGGCTGACCTCACTGAGGCTCTGATACTTTCCCCTAAGGAGCTAGATTGACAGTAAGTTTAAAAATGCCAGTTAGGCTGATTCTAATCCCCAGTGGCTCCTGAGGCATCCAGTGCAGGTGTGCCTCTGAACAGGCTGGTGGTCATCACAACTTGACTCTCTAGTGACAGAGCCTTCAGGGGAGGGGAGGCCACTGACATTTTCTTTAGGATGACAGGGGCAACAGACTTGAACTCCACCAGCCACCTCTCCTTTTCTGCCACCCAGTGAATGAGGAAAGGCAAGACACTCCAGTGTAGGAGCTAGAGGCCCTGGACACAGAGGATCGATGTCCCCGCGCTCTCAGCTCCTGATCTTTGGGAGGGTGGTTGGGCTGAGTACCTTACCTGGGCAGTGAGTTTCTGCCTCTCTTCCTGGAACCGCTGCCTCTCCTCCAGGACCTTGACCTTGGCACCCTCATACTTGGCAGTCATCACCTCCAGCTCCCGGGCAGTGCTCTGTGCTTCTCGCTGCACCTCAGCCAGACGGGTCTCAGCATCAGCACGTACGGCTGCCAACTCTTGGACATACTTCTCCCGGGCCTGGTCCAACTCCACTTCCAGAAACTGCCGGCCAAGGTTGGCCCGCTCACCCAGCCCCCGGTTCTCCTCTGCCAGCAGGCCATGCGCCTTCTTCAGCATGCTCAGCTGCTCTGCATAGCTGGCCTTCTCTGCCCGCAGCTGCTGAGCTGTTCGCTCCTGCTCTGCCACCTTCTGCCGCAGAGGAATCAGCTCCCCAAGCTCCCGCTGGGCCCGCAGCAGCTCTGCCCGCAGTCCCCCAGCGGCCTGCTTGCTCTGCTCCAGCTCCTCACGGTGGCGTTTCTCGGCAGCGGCCTGCTCGGCCTGCAGCTGCTGGCAGAGGTGCTTAGCTGGCAGCAGCTCACTCACCAGGGCCTGTGTGCTGGTGTGCTCGAGCTGCAGGGTGGAGAGGGCCTGCTCTTTCTGGAAGAACTTCTCCTGCCACGCCTTCAATTCTTGGCCCAGCTCCTCCGCACGCTCAGCCTGTGAGGTCAGCTCCTGCCGCAGGTTCTCTGAAGCCACCCGCTGTTTCTCAGCCTCCTCCCGGAGGCTCTGCACCTCCTCCCGCAGAGCAGAGCTGCGTTCTGCAGCTCTGGCACTGTTGCTGGCTGTCTCTGCCTGCAGCAGGCGCAGCCTCTCCTCCAGCTTCTGGCTCTTCTCTGACTCGGCCATCACCAGCCGCTTCAACTCCTTGCTCTCCCCCTCCTTCTCCAGGACCTGGGGATTCAGGATGGACACCTCCTCCTCCAAGCTGCTGATGAGGCTATTTTTCCTCTCAGCCTCTTGCCGGCCCCGGGCCACCTGGGCCTTCCACTCATCTTCAGCCTTGCTGTGGTCTTGTACCTTGGTGCGGAAGGCAGCCAACTCCCGTTGGGCCGAGGCTAAGGCACTCTGACTGTGCCCTAGCTCCTGGGCCTTCTCCTCTAACTGGCCCTGCAGAGTCTCCAGAGCACTGTCCCGCTCAGCCCGGGAGGCCCGCTCAGCCTCGAGGCTGCGTTCCAGGCTGTCAGCCTGCTCCTGCTGCTTCTGGCATTGCTGTTCCAGCTTGCTCACCTCTGCCCGCAGTGCCTCCAGCTTGGGGCCTGTTGGCTCTGTCCTGCCAGCAGCCTCAGATTGGGCTCCTGAGCCAGATGCGTGCTCCTTTTCTTTCTTAGCCAGCTGTTCCTTCAGTTGCTTCACGGTTTGCCGAAGTTCCTCCAGCTCTTTTATCTGGGCTGCCTCCAGACCACGAAGCTTGGCCAACTCCTGGTCCTTGCCTTCCTTTTCCGTCAGGGCATGAGCCAGTGCCTCTTGCAGGGTAGCGAACTCCACACGCTGCTCGTTGAGGGCGTTCTGCAGCCGCATCTCAAGCTCTGCTCTGGCCGCCTTCTCCAGGGCAAGGTCAGCCTGGGCACGGCCCCGCTCCTGGGTCAGCCGCGCCACCTCCCTTTCCTGCTGCCCACGCTCCTCCTGCTGCTGCCCCTGGCTCTCCATCAGCGCGGCCCGCAGCCGTTCCAGCTCATTGCCCATCTGCTCTGCCTCCCGCTCCATAGCCTGCAGCGCTGCCTGTGTGCTGCAGAACTGGCGTCCCTGTTGCTCTTCCAGCCACTCGGGCTGTCTGTCTCCTGCCCTCGCAGGCTCCTTGACTAACTCCCGGGAGGCTGTTTCCTGCTGCTCACCTGCCTTGCGCACCAAGGTCTCCAAGCGGGCCACCTCTTTGCTGGTGGCAGCCATCTTTTCCTGCAGAGTGGAGAGGTCATCTGCAAGCTTCTGGGCCCTGACTTCCTTCTCTTGGACCTGCTGGAGTGCTCTGGCCAGGTTGGCATGGAGCTCAGCTAGTTCGTTCTGCTGCCGGCTTATCTGGAGCTCGCTGTGGGATTCTATGCCTGCCACCTTCTCCTTTGCCTCCTGCAGCTCCTGGCGGGCCTTCTCACATTCCTCCTTCAAAGTCATCAGCTGTTCCTGGAACATGGCGCCATACTGTGCCTCCTCTTGCTGGCTATCCTCATACCGCTCACGCCAGGCAGCTACTTCTTTGACGAGCTGCTCACACTCACTCTCAGCTGTGTGCTGGGCAGCCATGGCCTCTGCCAGCTCCCGCCGCAGGACTTCAGTCTCAGCCTGATGGGCCTCCCCAAGCTGCTGTAATCGAGCCTCCAGCCCCTTGCGCCCAGCCCTCTCTTCTTCCAGCTCCTTTCGTTCCCGCTTATGCTGCTCCACCAGGCTTCGGGTCTCTGCCTTCAGCTCAGAGATACAACGCTGCTGCTCTTCCAGGGCATCTGCAGCCCTGCGCTTCTCCTCTTCAAGGCTGCCCTTGGTGACCTTCAAGGACTCTTTGAGGGCCTGGAGCTGCTCCTGGAGCTGGTCCTTCTCCTGGGCCACCCTTTCTTTCTCAGTTGCTTTTTGCTGCTCAGACCGCAGCTGCAACTCTAGCTCTGCAACCTGGGCCTGGGCCTCATGCTGTTCCTGGCGGGCTGTCTCAACACAGGCCTGGAGTTCCTCCACCTTCCGGCTCAGCTCTGCCTTCTCCCGCTGGGCCTGTGTCACTGAGGTCTGGGCACTGTCCCGGGCTTCATTAGCCACCTGAAGTTGCTGCTGCAGAATCTCCAGCTTGGCAGCCTTCTCCTTCTCCAGTGCCTCCAGCTGCTTGAGAGCCGCATCCCGCTCCCTTAAGGAGGCCTCTCGCTCCTCTGCAGCAGTGGCCAGTTGCTGGGCATGGTCCTGCCTAGTTGCCTCCTGCTTCTCCGCTACCTCCTTCAACTGCTGCTCCTTCTGCTTCAGGCTACTGCT
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Task1_train_16262
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Gene LRTOMT, TOMT (leucine rich transmembrane and O-methyltransferase domain containing| transmembrane O-methyltransferase) on Chromosome 11 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Autosomal recessive nonsyndromic hearing loss 63
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GTCCAAGTCCGTCCAAGATTGTATAGTGATCCATTTGTTGTTCATGAGCGTGTGATTGGGTGTTCACCAGCATGTATCAAATGTGCCACCCTCAAATCTTGTTTTGGCACATTACCCGTCTGACATAACAAGAGCCTGACACCTCTCCCACTGCATGTTCTGGGGTGAGGGGTGGAGGGGTCAGCAATGTGTTTCACTGGACATAGAGAAATAATGTAGTTTCCTGATTGATCTACTGGACTTTGTACATGCAGCCTGGTCTGCCTACTGTCTTTACTGTCTTCGAGACTCAGTACAATGTCCTCCTGATTACCTTCTCTGACTCCATTCTCTGGACATGCCCAGCTCCCTATGCTTAATCCTCATCCAGTGTTAATTCATGCATTTATTGAATCAACAAATATTTGCTGAGCGTCTACTATGTGCCACACATTGTTATATCTGGATATGCAGCAGTTCACAAAACAGCCAAAGTCCCTGTAGTCATGGAACATCCAATAGTGATCACACTATATTGTATTCTCTGTTCCTGGGTCAGTCTCACCTACCAAACTTGGGAGTTCCTGGAGCACAGTGACAGGTTCTGACTCTTCCCTGTAGCCCAAGGCATGGCCTTGCTTACAGAAAACTTGCATATCAATGAGCATGTTACAGTCACCCCATCACCTTGGCTCACCCCATGCCCCATCTTCTGATCCAAAGTATTGGAGAAGTCACCAGATCTCATACCTCTTATAACCCCTCAAATCAAGACCCTGAGGTTCTGTAAATCTTTTGAGGTTCCTGAAGGGTAGGAGGCAGCTCAAGCTCGTCCCTGGGGCTGGTAACTTGAACTGCAGGTCTCAGGTGACAGCAGCAGCCTCAGCATGAATAATTGAAAGCCATTCCAGCCTCCTACCTCAGGGTTATCCCCCGCAGCAGGCCCTGGACTCCCCGACCTGTCCTGTGCTCTGGTCCTCCAGCCCAGGTAAGCAGGGCCCTGGATTGTGGGTTCCCAAGCTCACCAGTTCAAGCCCACCGCATCACTCACCTATTCACACCCATCCATACACTCTTTCATTTTTACTCCCCGCCATCACCAGGGGCCTTGCAAGAAGGCCGGCAAGGAGGTCAGATCTGGATGAGGAGGAGAATGGTCCAGGACATGGGAGGAGAGGCCCATTCCCCATAGGTCCCTGGAGAGAAGAGCTGAGTAGAGGGAAAATGTGTGCTGTGTGTTATGTGTATGTACACATTTGTGAAGGGAATTCTGAGACAGCACAGGAGAAGAGGGGAATACAGCGGAGAGGAGATGGGGCTGGAGAATTATTAAAGAATCAAAGACTCCTCCCATCCTCAGGGAAGAGCAGGCAGAGGGAGAGTCCTGGGGTGGGAAAGAGGACATCTCACTCTAACACCCTATGGGGTATTTTGATTGCATTTTACTGAGGCAGGGCACAGTGATAGTGAAGGTGTTTTTGACTGCAAATCTATGCTCTTTTGCTACACAGCAGTGGTCAGAGGAGACCAGGCAGGCAGAGGGTAGGGGTGGGGGAAGATATCCCAGAGGTGAATTAGTGAAAGGGGTCCTGAAGAAGGGGTGACTTCAAGGATAAAGAGAAACAAGTCAGGGGAACAATGTGAAGATGGGACCAGGGGTTGGGACCGGGAAGAGGTGGTTTGGGGCTGGGTGCTGAAAGTAGACAGTATAGAGTCCTTGAAAGTACACAGGCTTGGAATCACACTAACCTGGATTCAAATCCCAGTTCTGCTCTGTGACTCTGGACAAAAGACTTAGCCTTTCTGAGCCGTGGTTTGTGAAATATAAGGATAATAATTGCTACTGGCAAAAGCTACACAAATAGGCAAATTGTGGGTATGGGATTCCCTCCCTACCTCCCTCCACCCCAGGGCCCAGGTAGGGACCATGTCCCCTGCCATTGCATTGGCCTTCCTGCCACTGGTGGTAACATTGCTGGTGCGGTACCGGCACTACTTCCGATTGCTGGTGCGCACGGTCTTGCTGCGAAGCCTCCGAGACTGCCTGTCAGGGCTGCGGATCGAGGAGCGGGCCTTCAGCTACGTGCTCACCCATGCCCTGCCCGGTGACCCTGGTCACATCCTCACCACCCTGGACCACTGGAGCAGCCGCTGCGAGTACTTGAGCCACATGGGGCCTGTCAAAGGTCAGTGTTCCCTAGCCTTCTGCTCCAAGAAGTACCCCCAAGACAGTGAAGGAATATTTGGGATCTGTTGCTGCTTAACTGGATGAATTGGGCAGGTTCTTGATCCTCTTTTAGGGCCTCTTTTTTTTCTCATCTGGAAATGAGGAGCTTGGACTAAGTCATTTATTCAGCAAACATTTATTGCCACCTCTTTTGTATTAGGAATGTGCTAGGTGCCAGGGAGAGGGGTAGAGGCCACAGAGATGAATGAGCCACAAATGCTGGCCTCAAAGGAACCATAATACACAGTGGAATAACCATCTCAGCAGATAACCCATAGCTTTGTAATTATCTGTCTCCACATCTTTCCTCTCCACCATGGAGGCTTCCACATACCATTTAGGGTAGCTGTCTGCCTGGATTTATCTCAATCCCAGCATAAGTGCTTTTAGGGTCTTATTTAAGAAATTCGGCTGTGTGGTGGCTGGTGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGTGGGCAGATTGCTTGAGCTCAGGAGTTTGAGACCGGCTTGGGCAACATGGCAAAAACCCATCTCTACAAAAAATACAAAAATTACCCAGGCATGGTGGCACATGCCTGTGGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGGCTGAGGCTGCAGTGAGCTGTGATTGTGCCACTGCACTCCAGCATGGGTGACAGAGCAAGAACCTGTCTCAAAAAAAAAAAAAAAAAGAAAAAGAAAAGAAAAGAAATTCACTGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAAGCAGGAGGATCACTTGAGCCCAGGAGTTCGAGACTAGCCTGGGTAACAAAGCAAGACCCCCGTTTCTACAAAAAATTTAAAAATTAGCCGGGTGTGGTGGTGAGTAACTGTGGTTCCAGCTACTGGAAATGCTGAGGTGGGAGGATTGCCTGAGCCTGGGTGGTCAAGGCTGCAGTGAGCCGTGATCATGCTACTGCACTCCAGCCTGGGCAACACAGCAAGACTTGGTCTCAAAAATAAATAAATAAAAGTTCATCCAATTCCAAGATCAGAAATACATTTGATGAGCAATAAAAGGGGAATGAAACTACAAATTCTAACAGAGACCTTTCATAAATCTGAAAGATAGGGTGGTTGTTTCTGCCTGGGACTTCATGGAGAAAGAGCAACATTTGAACTGAATCTGGAAGTTCTGAGTTGGCCAGGCAGATGGCGATGGGGGTGGGAAGGGCAAAGCCAGCCACATATACACATGTGGCATGAAGGAATGAGACAGCTTGATGGATTCTGGGCACAGTTGTTTGGGATGGCTGTGATACAGGCCACAGGTGGGAAGTACTGAGAGATGAACCTGGAAAGGTAGGATAGGATCAGGTCCAAGGTCCTGAATGCCAGGCTGAGAATCCCAAGTTCAATCCCAAAGGCCTTCAGCTCACAGGAGCCAAGGAGTAATAAGGTCAGATTTGTTGGAAAGATTCCAGGGCTGGTGTGAAGACTACACTGTAGGAGACGGGGACCAGGAGGGCAGCTGGGGCTATGGTACAAGAGACAGATGAGACCCCGGCTGGTTGGGAGCTGCAGTGAGGCAGGTAGGCATTTGAGATATCTTTTATCAGGGGCCCTGCATCCATCTCCCATGTCTTCTGCAACAGCCATCTCCCCTCATAGGTCAGATCCTGATGCGGCTGGTGGAGGAGAAGGCCCCTGCTTGTGTGCTGGAATTGGGAACCTACTGTGGATACTCTACCCTGCTTATTGCCCGAGCCCTGCCCCCTGGGGGTCGCCTTCTTACTGTGGAGCGGGACCCACGCACGGCAGCAGTGGCTGAAAAACTCATCCGCCTGGCCGGCTTTGATGAGCACATGGTCAGCCTCCCATCTCCCCAAC
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GTCCAAGTCCGTCCAAGATTGTATAGTGATCCATTTGTTGTTCATGAGCGTGTGATTGGGTGTTCACCAGCATGTATCAAATGTGCCACCCTCAAATCTTGTTTTGGCACATTACCCGTCTGACATAACAAGAGCCTGACACCTCTCCCACTGCATGTTCTGGGGTGAGGGGTGGAGGGGTCAGCAATGTGTTTCACTGGACATAGAGAAATAATGTAGTTTCCTGATTGATCTACTGGACTTTGTACATGCAGCCTGGTCTGCCTACTGTCTTTACTGTCTTCGAGACTCAGTACAATGTCCTCCTGATTACCTTCTCTGACTCCATTCTCTGGACATGCCCAGCTCCCTATGCTTAATCCTCATCCAGTGTTAATTCATGCATTTATTGAATCAACAAATATTTGCTGAGCGTCTACTATGTGCCACACATTGTTATATCTGGATATGCAGCAGTTCACAAAACAGCCAAAGTCCCTGTAGTCATGGAACATCCAATAGTGATCACACTATATTGTATTCTCTGTTCCTGGGTCAGTCTCACCTACCAAACTTGGGAGTTCCTGGAGCACAGTGACAGGTTCTGACTCTTCCCTGTAGCCCAAGGCATGGCCTTGCTTACAGAAAACTTGCATATCAATGAGCATGTTACAGTCACCCCATCACCTTGGCTCACCCCATGCCCCATCTTCTGATCCAAAGTATTGGAGAAGTCACCAGATCTCATACCTCTTATAACCCCTCAAATCAAGACCCTGAGGTTCTGTAAATCTTTTGAGGTTCCTGAAGGGTAGGAGGCAGCTCAAGCTCGTCCCTGGGGCTGGTAACTTGAACTGCAGGTCTCAGGTGACAGCAGCAGCCTCAGCATGAATAATTGAAAGCCATTCCAGCCTCCTACCTCAGGGTTATCCCCCGCAGCAGGCCCTGGACTCCCCGACCTGTCCTGTGCTCTGGTCCTCCAGCCCAGGTAAGCAGGGCCCTGGATTGTGGGTTCCCAAGCTCACCAGTTCAAGCCCACCGCATCACTCACCTATTCACACCCATCCATACACTCTTTCATTTTTACTCCCCGCCATCACCAGGGGCCTTGCAAGAAGGCCGGCAAGGAGGTCAGATCTGGATGAGGAGGAGAATGGTCCAGGACATGGGAGGAGAGGCCCATTCCCCATAGGTCCCTGGAGAGAAGAGCTGAGTAGAGGGAAAATGTGTGCTGTGTGTTATGTGTATGTACACATTTGTGAAGGGAATTCTGAGACAGCACAGGAGAAGAGGGGAATACAGCGGAGAGGAGATGGGGCTGGAGAATTATTAAAGAATCAAAGACTCCTCCCATCCTCAGGGAAGAGCAGGCAGAGGGAGAGTCCTGGGGTGGGAAAGAGGACATCTCACTCTAACACCCTATGGGGTATTTTGATTGCATTTTACTGAGGCAGGGCACAGTGATAGTGAAGGTGTTTTTGACTGCAAATCTATGCTCTTTTGCTACACAGCAGTGGTCAGAGGAGACCAGGCAGGCAGAGGGTAGGGGTGGGGGAAGATATCCCAGAGGTGAATTAGTGAAAGGGGTCCTGAAGAAGGGGTGACTTCAAGGATAAAGAGAAACAAGTCAGGGGAACAATGTGAAGATGGGACCAGGGGTTGGGACCGGGAAGAGGTGGTTTGGGGCTGGGTGCTGAAAGTAGACAGTATAGAGTCCTTGAAAGTACACAGGCTTGGAATCACACTAACCTGGATTCAAATCCCAGTTCTGCTCTGTGACTCTGGACAAAAGACTTAGCCTTTCTGAGCCGTGGTTTGTGAAATATAAGGATAATAATTGCTACTGGCAAAAGCTACACAAATAGGCAAATTGTGGGTATGGGATTCCCTCCCTACCTCCCTCCACCCCAGGGCCCAGGTAGGGACCATGTCCCCTGCCATTGCATTGGCCTTCCTGCCACTGGTGGTAACATTGCTGGTGCGGTACCGGCACTACTTCCGATTGCTGGTGCGCACGGTCTTGCTGCGAAGCCTCCGAGACTGCCTGTCAGGGCTGCGGATCGAGGAGCAGGCCTTCAGCTACGTGCTCACCCATGCCCTGCCCGGTGACCCTGGTCACATCCTCACCACCCTGGACCACTGGAGCAGCCGCTGCGAGTACTTGAGCCACATGGGGCCTGTCAAAGGTCAGTGTTCCCTAGCCTTCTGCTCCAAGAAGTACCCCCAAGACAGTGAAGGAATATTTGGGATCTGTTGCTGCTTAACTGGATGAATTGGGCAGGTTCTTGATCCTCTTTTAGGGCCTCTTTTTTTTCTCATCTGGAAATGAGGAGCTTGGACTAAGTCATTTATTCAGCAAACATTTATTGCCACCTCTTTTGTATTAGGAATGTGCTAGGTGCCAGGGAGAGGGGTAGAGGCCACAGAGATGAATGAGCCACAAATGCTGGCCTCAAAGGAACCATAATACACAGTGGAATAACCATCTCAGCAGATAACCCATAGCTTTGTAATTATCTGTCTCCACATCTTTCCTCTCCACCATGGAGGCTTCCACATACCATTTAGGGTAGCTGTCTGCCTGGATTTATCTCAATCCCAGCATAAGTGCTTTTAGGGTCTTATTTAAGAAATTCGGCTGTGTGGTGGCTGGTGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGTGGGCAGATTGCTTGAGCTCAGGAGTTTGAGACCGGCTTGGGCAACATGGCAAAAACCCATCTCTACAAAAAATACAAAAATTACCCAGGCATGGTGGCACATGCCTGTGGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGGCTGAGGCTGCAGTGAGCTGTGATTGTGCCACTGCACTCCAGCATGGGTGACAGAGCAAGAACCTGTCTCAAAAAAAAAAAAAAAAAGAAAAAGAAAAGAAAAGAAATTCACTGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAAGCAGGAGGATCACTTGAGCCCAGGAGTTCGAGACTAGCCTGGGTAACAAAGCAAGACCCCCGTTTCTACAAAAAATTTAAAAATTAGCCGGGTGTGGTGGTGAGTAACTGTGGTTCCAGCTACTGGAAATGCTGAGGTGGGAGGATTGCCTGAGCCTGGGTGGTCAAGGCTGCAGTGAGCCGTGATCATGCTACTGCACTCCAGCCTGGGCAACACAGCAAGACTTGGTCTCAAAAATAAATAAATAAAAGTTCATCCAATTCCAAGATCAGAAATACATTTGATGAGCAATAAAAGGGGAATGAAACTACAAATTCTAACAGAGACCTTTCATAAATCTGAAAGATAGGGTGGTTGTTTCTGCCTGGGACTTCATGGAGAAAGAGCAACATTTGAACTGAATCTGGAAGTTCTGAGTTGGCCAGGCAGATGGCGATGGGGGTGGGAAGGGCAAAGCCAGCCACATATACACATGTGGCATGAAGGAATGAGACAGCTTGATGGATTCTGGGCACAGTTGTTTGGGATGGCTGTGATACAGGCCACAGGTGGGAAGTACTGAGAGATGAACCTGGAAAGGTAGGATAGGATCAGGTCCAAGGTCCTGAATGCCAGGCTGAGAATCCCAAGTTCAATCCCAAAGGCCTTCAGCTCACAGGAGCCAAGGAGTAATAAGGTCAGATTTGTTGGAAAGATTCCAGGGCTGGTGTGAAGACTACACTGTAGGAGACGGGGACCAGGAGGGCAGCTGGGGCTATGGTACAAGAGACAGATGAGACCCCGGCTGGTTGGGAGCTGCAGTGAGGCAGGTAGGCATTTGAGATATCTTTTATCAGGGGCCCTGCATCCATCTCCCATGTCTTCTGCAACAGCCATCTCCCCTCATAGGTCAGATCCTGATGCGGCTGGTGGAGGAGAAGGCCCCTGCTTGTGTGCTGGAATTGGGAACCTACTGTGGATACTCTACCCTGCTTATTGCCCGAGCCCTGCCCCCTGGGGGTCGCCTTCTTACTGTGGAGCGGGACCCACGCACGGCAGCAGTGGCTGAAAAACTCATCCGCCTGGCCGGCTTTGATGAGCACATGGTCAGCCTCCCATCTCCCCAAC
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Task1_train_16263
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Given this variant in gene LRTOMT, TOMT (leucine rich transmembrane and O-methyltransferase domain containing| transmembrane O-methyltransferase) on Chromosome 11, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Rare genetic deafness
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GTCCAAGTCCGTCCAAGATTGTATAGTGATCCATTTGTTGTTCATGAGCGTGTGATTGGGTGTTCACCAGCATGTATCAAATGTGCCACCCTCAAATCTTGTTTTGGCACATTACCCGTCTGACATAACAAGAGCCTGACACCTCTCCCACTGCATGTTCTGGGGTGAGGGGTGGAGGGGTCAGCAATGTGTTTCACTGGACATAGAGAAATAATGTAGTTTCCTGATTGATCTACTGGACTTTGTACATGCAGCCTGGTCTGCCTACTGTCTTTACTGTCTTCGAGACTCAGTACAATGTCCTCCTGATTACCTTCTCTGACTCCATTCTCTGGACATGCCCAGCTCCCTATGCTTAATCCTCATCCAGTGTTAATTCATGCATTTATTGAATCAACAAATATTTGCTGAGCGTCTACTATGTGCCACACATTGTTATATCTGGATATGCAGCAGTTCACAAAACAGCCAAAGTCCCTGTAGTCATGGAACATCCAATAGTGATCACACTATATTGTATTCTCTGTTCCTGGGTCAGTCTCACCTACCAAACTTGGGAGTTCCTGGAGCACAGTGACAGGTTCTGACTCTTCCCTGTAGCCCAAGGCATGGCCTTGCTTACAGAAAACTTGCATATCAATGAGCATGTTACAGTCACCCCATCACCTTGGCTCACCCCATGCCCCATCTTCTGATCCAAAGTATTGGAGAAGTCACCAGATCTCATACCTCTTATAACCCCTCAAATCAAGACCCTGAGGTTCTGTAAATCTTTTGAGGTTCCTGAAGGGTAGGAGGCAGCTCAAGCTCGTCCCTGGGGCTGGTAACTTGAACTGCAGGTCTCAGGTGACAGCAGCAGCCTCAGCATGAATAATTGAAAGCCATTCCAGCCTCCTACCTCAGGGTTATCCCCCGCAGCAGGCCCTGGACTCCCCGACCTGTCCTGTGCTCTGGTCCTCCAGCCCAGGTAAGCAGGGCCCTGGATTGTGGGTTCCCAAGCTCACCAGTTCAAGCCCACCGCATCACTCACCTATTCACACCCATCCATACACTCTTTCATTTTTACTCCCCGCCATCACCAGGGGCCTTGCAAGAAGGCCGGCAAGGAGGTCAGATCTGGATGAGGAGGAGAATGGTCCAGGACATGGGAGGAGAGGCCCATTCCCCATAGGTCCCTGGAGAGAAGAGCTGAGTAGAGGGAAAATGTGTGCTGTGTGTTATGTGTATGTACACATTTGTGAAGGGAATTCTGAGACAGCACAGGAGAAGAGGGGAATACAGCGGAGAGGAGATGGGGCTGGAGAATTATTAAAGAATCAAAGACTCCTCCCATCCTCAGGGAAGAGCAGGCAGAGGGAGAGTCCTGGGGTGGGAAAGAGGACATCTCACTCTAACACCCTATGGGGTATTTTGATTGCATTTTACTGAGGCAGGGCACAGTGATAGTGAAGGTGTTTTTGACTGCAAATCTATGCTCTTTTGCTACACAGCAGTGGTCAGAGGAGACCAGGCAGGCAGAGGGTAGGGGTGGGGGAAGATATCCCAGAGGTGAATTAGTGAAAGGGGTCCTGAAGAAGGGGTGACTTCAAGGATAAAGAGAAACAAGTCAGGGGAACAATGTGAAGATGGGACCAGGGGTTGGGACCGGGAAGAGGTGGTTTGGGGCTGGGTGCTGAAAGTAGACAGTATAGAGTCCTTGAAAGTACACAGGCTTGGAATCACACTAACCTGGATTCAAATCCCAGTTCTGCTCTGTGACTCTGGACAAAAGACTTAGCCTTTCTGAGCCGTGGTTTGTGAAATATAAGGATAATAATTGCTACTGGCAAAAGCTACACAAATAGGCAAATTGTGGGTATGGGATTCCCTCCCTACCTCCCTCCACCCCAGGGCCCAGGTAGGGACCATGTCCCCTGCCATTGCATTGGCCTTCCTGCCACTGGTGGTAACATTGCTGGTGCGGTACCGGCACTACTTCCGATTGCTGGTGCGCACGGTCTTGCTGCGAAGCCTCCGAGACTGCCTGTCAGGGCTGCGGATCGAGGAGCGGGCCTTCAGCTACGTGCTCACCCATGCCCTGCCCGGTGACCCTGGTCACATCCTCACCACCCTGGACCACTGGAGCAGCCGCTGCGAGTACTTGAGCCACATGGGGCCTGTCAAAGGTCAGTGTTCCCTAGCCTTCTGCTCCAAGAAGTACCCCCAAGACAGTGAAGGAATATTTGGGATCTGTTGCTGCTTAACTGGATGAATTGGGCAGGTTCTTGATCCTCTTTTAGGGCCTCTTTTTTTTCTCATCTGGAAATGAGGAGCTTGGACTAAGTCATTTATTCAGCAAACATTTATTGCCACCTCTTTTGTATTAGGAATGTGCTAGGTGCCAGGGAGAGGGGTAGAGGCCACAGAGATGAATGAGCCACAAATGCTGGCCTCAAAGGAACCATAATACACAGTGGAATAACCATCTCAGCAGATAACCCATAGCTTTGTAATTATCTGTCTCCACATCTTTCCTCTCCACCATGGAGGCTTCCACATACCATTTAGGGTAGCTGTCTGCCTGGATTTATCTCAATCCCAGCATAAGTGCTTTTAGGGTCTTATTTAAGAAATTCGGCTGTGTGGTGGCTGGTGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGTGGGCAGATTGCTTGAGCTCAGGAGTTTGAGACCGGCTTGGGCAACATGGCAAAAACCCATCTCTACAAAAAATACAAAAATTACCCAGGCATGGTGGCACATGCCTGTGGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGGCTGAGGCTGCAGTGAGCTGTGATTGTGCCACTGCACTCCAGCATGGGTGACAGAGCAAGAACCTGTCTCAAAAAAAAAAAAAAAAAGAAAAAGAAAAGAAAAGAAATTCACTGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAAGCAGGAGGATCACTTGAGCCCAGGAGTTCGAGACTAGCCTGGGTAACAAAGCAAGACCCCCGTTTCTACAAAAAATTTAAAAATTAGCCGGGTGTGGTGGTGAGTAACTGTGGTTCCAGCTACTGGAAATGCTGAGGTGGGAGGATTGCCTGAGCCTGGGTGGTCAAGGCTGCAGTGAGCCGTGATCATGCTACTGCACTCCAGCCTGGGCAACACAGCAAGACTTGGTCTCAAAAATAAATAAATAAAAGTTCATCCAATTCCAAGATCAGAAATACATTTGATGAGCAATAAAAGGGGAATGAAACTACAAATTCTAACAGAGACCTTTCATAAATCTGAAAGATAGGGTGGTTGTTTCTGCCTGGGACTTCATGGAGAAAGAGCAACATTTGAACTGAATCTGGAAGTTCTGAGTTGGCCAGGCAGATGGCGATGGGGGTGGGAAGGGCAAAGCCAGCCACATATACACATGTGGCATGAAGGAATGAGACAGCTTGATGGATTCTGGGCACAGTTGTTTGGGATGGCTGTGATACAGGCCACAGGTGGGAAGTACTGAGAGATGAACCTGGAAAGGTAGGATAGGATCAGGTCCAAGGTCCTGAATGCCAGGCTGAGAATCCCAAGTTCAATCCCAAAGGCCTTCAGCTCACAGGAGCCAAGGAGTAATAAGGTCAGATTTGTTGGAAAGATTCCAGGGCTGGTGTGAAGACTACACTGTAGGAGACGGGGACCAGGAGGGCAGCTGGGGCTATGGTACAAGAGACAGATGAGACCCCGGCTGGTTGGGAGCTGCAGTGAGGCAGGTAGGCATTTGAGATATCTTTTATCAGGGGCCCTGCATCCATCTCCCATGTCTTCTGCAACAGCCATCTCCCCTCATAGGTCAGATCCTGATGCGGCTGGTGGAGGAGAAGGCCCCTGCTTGTGTGCTGGAATTGGGAACCTACTGTGGATACTCTACCCTGCTTATTGCCCGAGCCCTGCCCCCTGGGGGTCGCCTTCTTACTGTGGAGCGGGACCCACGCACGGCAGCAGTGGCTGAAAAACTCATCCGCCTGGCCGGCTTTGATGAGCACATGGTCAGCCTCCCATCTCCCCAAC
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GTCCAAGTCCGTCCAAGATTGTATAGTGATCCATTTGTTGTTCATGAGCGTGTGATTGGGTGTTCACCAGCATGTATCAAATGTGCCACCCTCAAATCTTGTTTTGGCACATTACCCGTCTGACATAACAAGAGCCTGACACCTCTCCCACTGCATGTTCTGGGGTGAGGGGTGGAGGGGTCAGCAATGTGTTTCACTGGACATAGAGAAATAATGTAGTTTCCTGATTGATCTACTGGACTTTGTACATGCAGCCTGGTCTGCCTACTGTCTTTACTGTCTTCGAGACTCAGTACAATGTCCTCCTGATTACCTTCTCTGACTCCATTCTCTGGACATGCCCAGCTCCCTATGCTTAATCCTCATCCAGTGTTAATTCATGCATTTATTGAATCAACAAATATTTGCTGAGCGTCTACTATGTGCCACACATTGTTATATCTGGATATGCAGCAGTTCACAAAACAGCCAAAGTCCCTGTAGTCATGGAACATCCAATAGTGATCACACTATATTGTATTCTCTGTTCCTGGGTCAGTCTCACCTACCAAACTTGGGAGTTCCTGGAGCACAGTGACAGGTTCTGACTCTTCCCTGTAGCCCAAGGCATGGCCTTGCTTACAGAAAACTTGCATATCAATGAGCATGTTACAGTCACCCCATCACCTTGGCTCACCCCATGCCCCATCTTCTGATCCAAAGTATTGGAGAAGTCACCAGATCTCATACCTCTTATAACCCCTCAAATCAAGACCCTGAGGTTCTGTAAATCTTTTGAGGTTCCTGAAGGGTAGGAGGCAGCTCAAGCTCGTCCCTGGGGCTGGTAACTTGAACTGCAGGTCTCAGGTGACAGCAGCAGCCTCAGCATGAATAATTGAAAGCCATTCCAGCCTCCTACCTCAGGGTTATCCCCCGCAGCAGGCCCTGGACTCCCCGACCTGTCCTGTGCTCTGGTCCTCCAGCCCAGGTAAGCAGGGCCCTGGATTGTGGGTTCCCAAGCTCACCAGTTCAAGCCCACCGCATCACTCACCTATTCACACCCATCCATACACTCTTTCATTTTTACTCCCCGCCATCACCAGGGGCCTTGCAAGAAGGCCGGCAAGGAGGTCAGATCTGGATGAGGAGGAGAATGGTCCAGGACATGGGAGGAGAGGCCCATTCCCCATAGGTCCCTGGAGAGAAGAGCTGAGTAGAGGGAAAATGTGTGCTGTGTGTTATGTGTATGTACACATTTGTGAAGGGAATTCTGAGACAGCACAGGAGAAGAGGGGAATACAGCGGAGAGGAGATGGGGCTGGAGAATTATTAAAGAATCAAAGACTCCTCCCATCCTCAGGGAAGAGCAGGCAGAGGGAGAGTCCTGGGGTGGGAAAGAGGACATCTCACTCTAACACCCTATGGGGTATTTTGATTGCATTTTACTGAGGCAGGGCACAGTGATAGTGAAGGTGTTTTTGACTGCAAATCTATGCTCTTTTGCTACACAGCAGTGGTCAGAGGAGACCAGGCAGGCAGAGGGTAGGGGTGGGGGAAGATATCCCAGAGGTGAATTAGTGAAAGGGGTCCTGAAGAAGGGGTGACTTCAAGGATAAAGAGAAACAAGTCAGGGGAACAATGTGAAGATGGGACCAGGGGTTGGGACCGGGAAGAGGTGGTTTGGGGCTGGGTGCTGAAAGTAGACAGTATAGAGTCCTTGAAAGTACACAGGCTTGGAATCACACTAACCTGGATTCAAATCCCAGTTCTGCTCTGTGACTCTGGACAAAAGACTTAGCCTTTCTGAGCCGTGGTTTGTGAAATATAAGGATAATAATTGCTACTGGCAAAAGCTACACAAATAGGCAAATTGTGGGTATGGGATTCCCTCCCTACCTCCCTCCACCCCAGGGCCCAGGTAGGGACCATGTCCCCTGCCATTGCATTGGCCTTCCTGCCACTGGTGGTAACATTGCTGGTGCGGTACCGGCACTACTTCCGATTGCTGGTGCGCACGGTCTTGCTGCGAAGCCTCCGAGACTGCCTGTCAGGGCTGCGGATCGAGGAGCAGGCCTTCAGCTACGTGCTCACCCATGCCCTGCCCGGTGACCCTGGTCACATCCTCACCACCCTGGACCACTGGAGCAGCCGCTGCGAGTACTTGAGCCACATGGGGCCTGTCAAAGGTCAGTGTTCCCTAGCCTTCTGCTCCAAGAAGTACCCCCAAGACAGTGAAGGAATATTTGGGATCTGTTGCTGCTTAACTGGATGAATTGGGCAGGTTCTTGATCCTCTTTTAGGGCCTCTTTTTTTTCTCATCTGGAAATGAGGAGCTTGGACTAAGTCATTTATTCAGCAAACATTTATTGCCACCTCTTTTGTATTAGGAATGTGCTAGGTGCCAGGGAGAGGGGTAGAGGCCACAGAGATGAATGAGCCACAAATGCTGGCCTCAAAGGAACCATAATACACAGTGGAATAACCATCTCAGCAGATAACCCATAGCTTTGTAATTATCTGTCTCCACATCTTTCCTCTCCACCATGGAGGCTTCCACATACCATTTAGGGTAGCTGTCTGCCTGGATTTATCTCAATCCCAGCATAAGTGCTTTTAGGGTCTTATTTAAGAAATTCGGCTGTGTGGTGGCTGGTGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGTGGGCAGATTGCTTGAGCTCAGGAGTTTGAGACCGGCTTGGGCAACATGGCAAAAACCCATCTCTACAAAAAATACAAAAATTACCCAGGCATGGTGGCACATGCCTGTGGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGGCTGAGGCTGCAGTGAGCTGTGATTGTGCCACTGCACTCCAGCATGGGTGACAGAGCAAGAACCTGTCTCAAAAAAAAAAAAAAAAAGAAAAAGAAAAGAAAAGAAATTCACTGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAAGCAGGAGGATCACTTGAGCCCAGGAGTTCGAGACTAGCCTGGGTAACAAAGCAAGACCCCCGTTTCTACAAAAAATTTAAAAATTAGCCGGGTGTGGTGGTGAGTAACTGTGGTTCCAGCTACTGGAAATGCTGAGGTGGGAGGATTGCCTGAGCCTGGGTGGTCAAGGCTGCAGTGAGCCGTGATCATGCTACTGCACTCCAGCCTGGGCAACACAGCAAGACTTGGTCTCAAAAATAAATAAATAAAAGTTCATCCAATTCCAAGATCAGAAATACATTTGATGAGCAATAAAAGGGGAATGAAACTACAAATTCTAACAGAGACCTTTCATAAATCTGAAAGATAGGGTGGTTGTTTCTGCCTGGGACTTCATGGAGAAAGAGCAACATTTGAACTGAATCTGGAAGTTCTGAGTTGGCCAGGCAGATGGCGATGGGGGTGGGAAGGGCAAAGCCAGCCACATATACACATGTGGCATGAAGGAATGAGACAGCTTGATGGATTCTGGGCACAGTTGTTTGGGATGGCTGTGATACAGGCCACAGGTGGGAAGTACTGAGAGATGAACCTGGAAAGGTAGGATAGGATCAGGTCCAAGGTCCTGAATGCCAGGCTGAGAATCCCAAGTTCAATCCCAAAGGCCTTCAGCTCACAGGAGCCAAGGAGTAATAAGGTCAGATTTGTTGGAAAGATTCCAGGGCTGGTGTGAAGACTACACTGTAGGAGACGGGGACCAGGAGGGCAGCTGGGGCTATGGTACAAGAGACAGATGAGACCCCGGCTGGTTGGGAGCTGCAGTGAGGCAGGTAGGCATTTGAGATATCTTTTATCAGGGGCCCTGCATCCATCTCCCATGTCTTCTGCAACAGCCATCTCCCCTCATAGGTCAGATCCTGATGCGGCTGGTGGAGGAGAAGGCCCCTGCTTGTGTGCTGGAATTGGGAACCTACTGTGGATACTCTACCCTGCTTATTGCCCGAGCCCTGCCCCCTGGGGGTCGCCTTCTTACTGTGGAGCGGGACCCACGCACGGCAGCAGTGGCTGAAAAACTCATCCGCCTGGCCGGCTTTGATGAGCACATGGTCAGCCTCCCATCTCCCCAAC
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Task1_train_16264
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Here’s a variant in LRTOMT, TOMT (leucine rich transmembrane and O-methyltransferase domain containing| transmembrane O-methyltransferase) located on Chromosome 11. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Autosomal recessive nonsyndromic hearing loss 63
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ATGTATCAAATGTGCCACCCTCAAATCTTGTTTTGGCACATTACCCGTCTGACATAACAAGAGCCTGACACCTCTCCCACTGCATGTTCTGGGGTGAGGGGTGGAGGGGTCAGCAATGTGTTTCACTGGACATAGAGAAATAATGTAGTTTCCTGATTGATCTACTGGACTTTGTACATGCAGCCTGGTCTGCCTACTGTCTTTACTGTCTTCGAGACTCAGTACAATGTCCTCCTGATTACCTTCTCTGACTCCATTCTCTGGACATGCCCAGCTCCCTATGCTTAATCCTCATCCAGTGTTAATTCATGCATTTATTGAATCAACAAATATTTGCTGAGCGTCTACTATGTGCCACACATTGTTATATCTGGATATGCAGCAGTTCACAAAACAGCCAAAGTCCCTGTAGTCATGGAACATCCAATAGTGATCACACTATATTGTATTCTCTGTTCCTGGGTCAGTCTCACCTACCAAACTTGGGAGTTCCTGGAGCACAGTGACAGGTTCTGACTCTTCCCTGTAGCCCAAGGCATGGCCTTGCTTACAGAAAACTTGCATATCAATGAGCATGTTACAGTCACCCCATCACCTTGGCTCACCCCATGCCCCATCTTCTGATCCAAAGTATTGGAGAAGTCACCAGATCTCATACCTCTTATAACCCCTCAAATCAAGACCCTGAGGTTCTGTAAATCTTTTGAGGTTCCTGAAGGGTAGGAGGCAGCTCAAGCTCGTCCCTGGGGCTGGTAACTTGAACTGCAGGTCTCAGGTGACAGCAGCAGCCTCAGCATGAATAATTGAAAGCCATTCCAGCCTCCTACCTCAGGGTTATCCCCCGCAGCAGGCCCTGGACTCCCCGACCTGTCCTGTGCTCTGGTCCTCCAGCCCAGGTAAGCAGGGCCCTGGATTGTGGGTTCCCAAGCTCACCAGTTCAAGCCCACCGCATCACTCACCTATTCACACCCATCCATACACTCTTTCATTTTTACTCCCCGCCATCACCAGGGGCCTTGCAAGAAGGCCGGCAAGGAGGTCAGATCTGGATGAGGAGGAGAATGGTCCAGGACATGGGAGGAGAGGCCCATTCCCCATAGGTCCCTGGAGAGAAGAGCTGAGTAGAGGGAAAATGTGTGCTGTGTGTTATGTGTATGTACACATTTGTGAAGGGAATTCTGAGACAGCACAGGAGAAGAGGGGAATACAGCGGAGAGGAGATGGGGCTGGAGAATTATTAAAGAATCAAAGACTCCTCCCATCCTCAGGGAAGAGCAGGCAGAGGGAGAGTCCTGGGGTGGGAAAGAGGACATCTCACTCTAACACCCTATGGGGTATTTTGATTGCATTTTACTGAGGCAGGGCACAGTGATAGTGAAGGTGTTTTTGACTGCAAATCTATGCTCTTTTGCTACACAGCAGTGGTCAGAGGAGACCAGGCAGGCAGAGGGTAGGGGTGGGGGAAGATATCCCAGAGGTGAATTAGTGAAAGGGGTCCTGAAGAAGGGGTGACTTCAAGGATAAAGAGAAACAAGTCAGGGGAACAATGTGAAGATGGGACCAGGGGTTGGGACCGGGAAGAGGTGGTTTGGGGCTGGGTGCTGAAAGTAGACAGTATAGAGTCCTTGAAAGTACACAGGCTTGGAATCACACTAACCTGGATTCAAATCCCAGTTCTGCTCTGTGACTCTGGACAAAAGACTTAGCCTTTCTGAGCCGTGGTTTGTGAAATATAAGGATAATAATTGCTACTGGCAAAAGCTACACAAATAGGCAAATTGTGGGTATGGGATTCCCTCCCTACCTCCCTCCACCCCAGGGCCCAGGTAGGGACCATGTCCCCTGCCATTGCATTGGCCTTCCTGCCACTGGTGGTAACATTGCTGGTGCGGTACCGGCACTACTTCCGATTGCTGGTGCGCACGGTCTTGCTGCGAAGCCTCCGAGACTGCCTGTCAGGGCTGCGGATCGAGGAGCGGGCCTTCAGCTACGTGCTCACCCATGCCCTGCCCGGTGACCCTGGTCACATCCTCACCACCCTGGACCACTGGAGCAGCCGCTGCGAGTACTTGAGCCACATGGGGCCTGTCAAAGGTCAGTGTTCCCTAGCCTTCTGCTCCAAGAAGTACCCCCAAGACAGTGAAGGAATATTTGGGATCTGTTGCTGCTTAACTGGATGAATTGGGCAGGTTCTTGATCCTCTTTTAGGGCCTCTTTTTTTTCTCATCTGGAAATGAGGAGCTTGGACTAAGTCATTTATTCAGCAAACATTTATTGCCACCTCTTTTGTATTAGGAATGTGCTAGGTGCCAGGGAGAGGGGTAGAGGCCACAGAGATGAATGAGCCACAAATGCTGGCCTCAAAGGAACCATAATACACAGTGGAATAACCATCTCAGCAGATAACCCATAGCTTTGTAATTATCTGTCTCCACATCTTTCCTCTCCACCATGGAGGCTTCCACATACCATTTAGGGTAGCTGTCTGCCTGGATTTATCTCAATCCCAGCATAAGTGCTTTTAGGGTCTTATTTAAGAAATTCGGCTGTGTGGTGGCTGGTGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGTGGGCAGATTGCTTGAGCTCAGGAGTTTGAGACCGGCTTGGGCAACATGGCAAAAACCCATCTCTACAAAAAATACAAAAATTACCCAGGCATGGTGGCACATGCCTGTGGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGGCTGAGGCTGCAGTGAGCTGTGATTGTGCCACTGCACTCCAGCATGGGTGACAGAGCAAGAACCTGTCTCAAAAAAAAAAAAAAAAAGAAAAAGAAAAGAAAAGAAATTCACTGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAAGCAGGAGGATCACTTGAGCCCAGGAGTTCGAGACTAGCCTGGGTAACAAAGCAAGACCCCCGTTTCTACAAAAAATTTAAAAATTAGCCGGGTGTGGTGGTGAGTAACTGTGGTTCCAGCTACTGGAAATGCTGAGGTGGGAGGATTGCCTGAGCCTGGGTGGTCAAGGCTGCAGTGAGCCGTGATCATGCTACTGCACTCCAGCCTGGGCAACACAGCAAGACTTGGTCTCAAAAATAAATAAATAAAAGTTCATCCAATTCCAAGATCAGAAATACATTTGATGAGCAATAAAAGGGGAATGAAACTACAAATTCTAACAGAGACCTTTCATAAATCTGAAAGATAGGGTGGTTGTTTCTGCCTGGGACTTCATGGAGAAAGAGCAACATTTGAACTGAATCTGGAAGTTCTGAGTTGGCCAGGCAGATGGCGATGGGGGTGGGAAGGGCAAAGCCAGCCACATATACACATGTGGCATGAAGGAATGAGACAGCTTGATGGATTCTGGGCACAGTTGTTTGGGATGGCTGTGATACAGGCCACAGGTGGGAAGTACTGAGAGATGAACCTGGAAAGGTAGGATAGGATCAGGTCCAAGGTCCTGAATGCCAGGCTGAGAATCCCAAGTTCAATCCCAAAGGCCTTCAGCTCACAGGAGCCAAGGAGTAATAAGGTCAGATTTGTTGGAAAGATTCCAGGGCTGGTGTGAAGACTACACTGTAGGAGACGGGGACCAGGAGGGCAGCTGGGGCTATGGTACAAGAGACAGATGAGACCCCGGCTGGTTGGGAGCTGCAGTGAGGCAGGTAGGCATTTGAGATATCTTTTATCAGGGGCCCTGCATCCATCTCCCATGTCTTCTGCAACAGCCATCTCCCCTCATAGGTCAGATCCTGATGCGGCTGGTGGAGGAGAAGGCCCCTGCTTGTGTGCTGGAATTGGGAACCTACTGTGGATACTCTACCCTGCTTATTGCCCGAGCCCTGCCCCCTGGGGGTCGCCTTCTTACTGTGGAGCGGGACCCACGCACGGCAGCAGTGGCTGAAAAACTCATCCGCCTGGCCGGCTTTGATGAGCACATGGTCAGCCTCCCATCTCCCCAACCCAGATTTTTGTCACCCCAGGCCTTGCCCCCAGACATCCCTTGTGAAGGACTCCCATCTAAGGAGAAGGAA
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ATGTATCAAATGTGCCACCCTCAAATCTTGTTTTGGCACATTACCCGTCTGACATAACAAGAGCCTGACACCTCTCCCACTGCATGTTCTGGGGTGAGGGGTGGAGGGGTCAGCAATGTGTTTCACTGGACATAGAGAAATAATGTAGTTTCCTGATTGATCTACTGGACTTTGTACATGCAGCCTGGTCTGCCTACTGTCTTTACTGTCTTCGAGACTCAGTACAATGTCCTCCTGATTACCTTCTCTGACTCCATTCTCTGGACATGCCCAGCTCCCTATGCTTAATCCTCATCCAGTGTTAATTCATGCATTTATTGAATCAACAAATATTTGCTGAGCGTCTACTATGTGCCACACATTGTTATATCTGGATATGCAGCAGTTCACAAAACAGCCAAAGTCCCTGTAGTCATGGAACATCCAATAGTGATCACACTATATTGTATTCTCTGTTCCTGGGTCAGTCTCACCTACCAAACTTGGGAGTTCCTGGAGCACAGTGACAGGTTCTGACTCTTCCCTGTAGCCCAAGGCATGGCCTTGCTTACAGAAAACTTGCATATCAATGAGCATGTTACAGTCACCCCATCACCTTGGCTCACCCCATGCCCCATCTTCTGATCCAAAGTATTGGAGAAGTCACCAGATCTCATACCTCTTATAACCCCTCAAATCAAGACCCTGAGGTTCTGTAAATCTTTTGAGGTTCCTGAAGGGTAGGAGGCAGCTCAAGCTCGTCCCTGGGGCTGGTAACTTGAACTGCAGGTCTCAGGTGACAGCAGCAGCCTCAGCATGAATAATTGAAAGCCATTCCAGCCTCCTACCTCAGGGTTATCCCCCGCAGCAGGCCCTGGACTCCCCGACCTGTCCTGTGCTCTGGTCCTCCAGCCCAGGTAAGCAGGGCCCTGGATTGTGGGTTCCCAAGCTCACCAGTTCAAGCCCACCGCATCACTCACCTATTCACACCCATCCATACACTCTTTCATTTTTACTCCCCGCCATCACCAGGGGCCTTGCAAGAAGGCCGGCAAGGAGGTCAGATCTGGATGAGGAGGAGAATGGTCCAGGACATGGGAGGAGAGGCCCATTCCCCATAGGTCCCTGGAGAGAAGAGCTGAGTAGAGGGAAAATGTGTGCTGTGTGTTATGTGTATGTACACATTTGTGAAGGGAATTCTGAGACAGCACAGGAGAAGAGGGGAATACAGCGGAGAGGAGATGGGGCTGGAGAATTATTAAAGAATCAAAGACTCCTCCCATCCTCAGGGAAGAGCAGGCAGAGGGAGAGTCCTGGGGTGGGAAAGAGGACATCTCACTCTAACACCCTATGGGGTATTTTGATTGCATTTTACTGAGGCAGGGCACAGTGATAGTGAAGGTGTTTTTGACTGCAAATCTATGCTCTTTTGCTACACAGCAGTGGTCAGAGGAGACCAGGCAGGCAGAGGGTAGGGGTGGGGGAAGATATCCCAGAGGTGAATTAGTGAAAGGGGTCCTGAAGAAGGGGTGACTTCAAGGATAAAGAGAAACAAGTCAGGGGAACAATGTGAAGATGGGACCAGGGGTTGGGACCGGGAAGAGGTGGTTTGGGGCTGGGTGCTGAAAGTAGACAGTATAGAGTCCTTGAAAGTACACAGGCTTGGAATCACACTAACCTGGATTCAAATCCCAGTTCTGCTCTGTGACTCTGGACAAAAGACTTAGCCTTTCTGAGCCGTGGTTTGTGAAATATAAGGATAATAATTGCTACTGGCAAAAGCTACACAAATAGGCAAATTGTGGGTATGGGATTCCCTCCCTACCTCCCTCCACCCCAGGGCCCAGGTAGGGACCATGTCCCCTGCCATTGCATTGGCCTTCCTGCCACTGGTGGTAACATTGCTGGTGCGGTACCGGCACTACTTCCGATTGCTGGTGCGCACGGTCTTGCTGCGAAGCCTCCGAGACTGCCTGTCAGGGCTGCGGATCGAGGAGCGGGCCTTCAGCTACGTGCTCACCCATGCCCTGCCCGGTGACCCTGGTCACATCCTCACCACCCTGGACCACCGGAGCAGCCGCTGCGAGTACTTGAGCCACATGGGGCCTGTCAAAGGTCAGTGTTCCCTAGCCTTCTGCTCCAAGAAGTACCCCCAAGACAGTGAAGGAATATTTGGGATCTGTTGCTGCTTAACTGGATGAATTGGGCAGGTTCTTGATCCTCTTTTAGGGCCTCTTTTTTTTCTCATCTGGAAATGAGGAGCTTGGACTAAGTCATTTATTCAGCAAACATTTATTGCCACCTCTTTTGTATTAGGAATGTGCTAGGTGCCAGGGAGAGGGGTAGAGGCCACAGAGATGAATGAGCCACAAATGCTGGCCTCAAAGGAACCATAATACACAGTGGAATAACCATCTCAGCAGATAACCCATAGCTTTGTAATTATCTGTCTCCACATCTTTCCTCTCCACCATGGAGGCTTCCACATACCATTTAGGGTAGCTGTCTGCCTGGATTTATCTCAATCCCAGCATAAGTGCTTTTAGGGTCTTATTTAAGAAATTCGGCTGTGTGGTGGCTGGTGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGTGGGCAGATTGCTTGAGCTCAGGAGTTTGAGACCGGCTTGGGCAACATGGCAAAAACCCATCTCTACAAAAAATACAAAAATTACCCAGGCATGGTGGCACATGCCTGTGGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGGCTGAGGCTGCAGTGAGCTGTGATTGTGCCACTGCACTCCAGCATGGGTGACAGAGCAAGAACCTGTCTCAAAAAAAAAAAAAAAAAGAAAAAGAAAAGAAAAGAAATTCACTGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAAGCAGGAGGATCACTTGAGCCCAGGAGTTCGAGACTAGCCTGGGTAACAAAGCAAGACCCCCGTTTCTACAAAAAATTTAAAAATTAGCCGGGTGTGGTGGTGAGTAACTGTGGTTCCAGCTACTGGAAATGCTGAGGTGGGAGGATTGCCTGAGCCTGGGTGGTCAAGGCTGCAGTGAGCCGTGATCATGCTACTGCACTCCAGCCTGGGCAACACAGCAAGACTTGGTCTCAAAAATAAATAAATAAAAGTTCATCCAATTCCAAGATCAGAAATACATTTGATGAGCAATAAAAGGGGAATGAAACTACAAATTCTAACAGAGACCTTTCATAAATCTGAAAGATAGGGTGGTTGTTTCTGCCTGGGACTTCATGGAGAAAGAGCAACATTTGAACTGAATCTGGAAGTTCTGAGTTGGCCAGGCAGATGGCGATGGGGGTGGGAAGGGCAAAGCCAGCCACATATACACATGTGGCATGAAGGAATGAGACAGCTTGATGGATTCTGGGCACAGTTGTTTGGGATGGCTGTGATACAGGCCACAGGTGGGAAGTACTGAGAGATGAACCTGGAAAGGTAGGATAGGATCAGGTCCAAGGTCCTGAATGCCAGGCTGAGAATCCCAAGTTCAATCCCAAAGGCCTTCAGCTCACAGGAGCCAAGGAGTAATAAGGTCAGATTTGTTGGAAAGATTCCAGGGCTGGTGTGAAGACTACACTGTAGGAGACGGGGACCAGGAGGGCAGCTGGGGCTATGGTACAAGAGACAGATGAGACCCCGGCTGGTTGGGAGCTGCAGTGAGGCAGGTAGGCATTTGAGATATCTTTTATCAGGGGCCCTGCATCCATCTCCCATGTCTTCTGCAACAGCCATCTCCCCTCATAGGTCAGATCCTGATGCGGCTGGTGGAGGAGAAGGCCCCTGCTTGTGTGCTGGAATTGGGAACCTACTGTGGATACTCTACCCTGCTTATTGCCCGAGCCCTGCCCCCTGGGGGTCGCCTTCTTACTGTGGAGCGGGACCCACGCACGGCAGCAGTGGCTGAAAAACTCATCCGCCTGGCCGGCTTTGATGAGCACATGGTCAGCCTCCCATCTCCCCAACCCAGATTTTTGTCACCCCAGGCCTTGCCCCCAGACATCCCTTGTGAAGGACTCCCATCTAAGGAGAAGGAA
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Task1_train_16265
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Given this context: Chromosome 11, gene LRTOMT, TOMT (leucine rich transmembrane and O-methyltransferase domain containing| transmembrane O-methyltransferase) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Autosomal recessive nonsyndromic hearing loss 63
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CACCCTCAAATCTTGTTTTGGCACATTACCCGTCTGACATAACAAGAGCCTGACACCTCTCCCACTGCATGTTCTGGGGTGAGGGGTGGAGGGGTCAGCAATGTGTTTCACTGGACATAGAGAAATAATGTAGTTTCCTGATTGATCTACTGGACTTTGTACATGCAGCCTGGTCTGCCTACTGTCTTTACTGTCTTCGAGACTCAGTACAATGTCCTCCTGATTACCTTCTCTGACTCCATTCTCTGGACATGCCCAGCTCCCTATGCTTAATCCTCATCCAGTGTTAATTCATGCATTTATTGAATCAACAAATATTTGCTGAGCGTCTACTATGTGCCACACATTGTTATATCTGGATATGCAGCAGTTCACAAAACAGCCAAAGTCCCTGTAGTCATGGAACATCCAATAGTGATCACACTATATTGTATTCTCTGTTCCTGGGTCAGTCTCACCTACCAAACTTGGGAGTTCCTGGAGCACAGTGACAGGTTCTGACTCTTCCCTGTAGCCCAAGGCATGGCCTTGCTTACAGAAAACTTGCATATCAATGAGCATGTTACAGTCACCCCATCACCTTGGCTCACCCCATGCCCCATCTTCTGATCCAAAGTATTGGAGAAGTCACCAGATCTCATACCTCTTATAACCCCTCAAATCAAGACCCTGAGGTTCTGTAAATCTTTTGAGGTTCCTGAAGGGTAGGAGGCAGCTCAAGCTCGTCCCTGGGGCTGGTAACTTGAACTGCAGGTCTCAGGTGACAGCAGCAGCCTCAGCATGAATAATTGAAAGCCATTCCAGCCTCCTACCTCAGGGTTATCCCCCGCAGCAGGCCCTGGACTCCCCGACCTGTCCTGTGCTCTGGTCCTCCAGCCCAGGTAAGCAGGGCCCTGGATTGTGGGTTCCCAAGCTCACCAGTTCAAGCCCACCGCATCACTCACCTATTCACACCCATCCATACACTCTTTCATTTTTACTCCCCGCCATCACCAGGGGCCTTGCAAGAAGGCCGGCAAGGAGGTCAGATCTGGATGAGGAGGAGAATGGTCCAGGACATGGGAGGAGAGGCCCATTCCCCATAGGTCCCTGGAGAGAAGAGCTGAGTAGAGGGAAAATGTGTGCTGTGTGTTATGTGTATGTACACATTTGTGAAGGGAATTCTGAGACAGCACAGGAGAAGAGGGGAATACAGCGGAGAGGAGATGGGGCTGGAGAATTATTAAAGAATCAAAGACTCCTCCCATCCTCAGGGAAGAGCAGGCAGAGGGAGAGTCCTGGGGTGGGAAAGAGGACATCTCACTCTAACACCCTATGGGGTATTTTGATTGCATTTTACTGAGGCAGGGCACAGTGATAGTGAAGGTGTTTTTGACTGCAAATCTATGCTCTTTTGCTACACAGCAGTGGTCAGAGGAGACCAGGCAGGCAGAGGGTAGGGGTGGGGGAAGATATCCCAGAGGTGAATTAGTGAAAGGGGTCCTGAAGAAGGGGTGACTTCAAGGATAAAGAGAAACAAGTCAGGGGAACAATGTGAAGATGGGACCAGGGGTTGGGACCGGGAAGAGGTGGTTTGGGGCTGGGTGCTGAAAGTAGACAGTATAGAGTCCTTGAAAGTACACAGGCTTGGAATCACACTAACCTGGATTCAAATCCCAGTTCTGCTCTGTGACTCTGGACAAAAGACTTAGCCTTTCTGAGCCGTGGTTTGTGAAATATAAGGATAATAATTGCTACTGGCAAAAGCTACACAAATAGGCAAATTGTGGGTATGGGATTCCCTCCCTACCTCCCTCCACCCCAGGGCCCAGGTAGGGACCATGTCCCCTGCCATTGCATTGGCCTTCCTGCCACTGGTGGTAACATTGCTGGTGCGGTACCGGCACTACTTCCGATTGCTGGTGCGCACGGTCTTGCTGCGAAGCCTCCGAGACTGCCTGTCAGGGCTGCGGATCGAGGAGCGGGCCTTCAGCTACGTGCTCACCCATGCCCTGCCCGGTGACCCTGGTCACATCCTCACCACCCTGGACCACTGGAGCAGCCGCTGCGAGTACTTGAGCCACATGGGGCCTGTCAAAGGTCAGTGTTCCCTAGCCTTCTGCTCCAAGAAGTACCCCCAAGACAGTGAAGGAATATTTGGGATCTGTTGCTGCTTAACTGGATGAATTGGGCAGGTTCTTGATCCTCTTTTAGGGCCTCTTTTTTTTCTCATCTGGAAATGAGGAGCTTGGACTAAGTCATTTATTCAGCAAACATTTATTGCCACCTCTTTTGTATTAGGAATGTGCTAGGTGCCAGGGAGAGGGGTAGAGGCCACAGAGATGAATGAGCCACAAATGCTGGCCTCAAAGGAACCATAATACACAGTGGAATAACCATCTCAGCAGATAACCCATAGCTTTGTAATTATCTGTCTCCACATCTTTCCTCTCCACCATGGAGGCTTCCACATACCATTTAGGGTAGCTGTCTGCCTGGATTTATCTCAATCCCAGCATAAGTGCTTTTAGGGTCTTATTTAAGAAATTCGGCTGTGTGGTGGCTGGTGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGTGGGCAGATTGCTTGAGCTCAGGAGTTTGAGACCGGCTTGGGCAACATGGCAAAAACCCATCTCTACAAAAAATACAAAAATTACCCAGGCATGGTGGCACATGCCTGTGGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGGCTGAGGCTGCAGTGAGCTGTGATTGTGCCACTGCACTCCAGCATGGGTGACAGAGCAAGAACCTGTCTCAAAAAAAAAAAAAAAAAGAAAAAGAAAAGAAAAGAAATTCACTGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAAGCAGGAGGATCACTTGAGCCCAGGAGTTCGAGACTAGCCTGGGTAACAAAGCAAGACCCCCGTTTCTACAAAAAATTTAAAAATTAGCCGGGTGTGGTGGTGAGTAACTGTGGTTCCAGCTACTGGAAATGCTGAGGTGGGAGGATTGCCTGAGCCTGGGTGGTCAAGGCTGCAGTGAGCCGTGATCATGCTACTGCACTCCAGCCTGGGCAACACAGCAAGACTTGGTCTCAAAAATAAATAAATAAAAGTTCATCCAATTCCAAGATCAGAAATACATTTGATGAGCAATAAAAGGGGAATGAAACTACAAATTCTAACAGAGACCTTTCATAAATCTGAAAGATAGGGTGGTTGTTTCTGCCTGGGACTTCATGGAGAAAGAGCAACATTTGAACTGAATCTGGAAGTTCTGAGTTGGCCAGGCAGATGGCGATGGGGGTGGGAAGGGCAAAGCCAGCCACATATACACATGTGGCATGAAGGAATGAGACAGCTTGATGGATTCTGGGCACAGTTGTTTGGGATGGCTGTGATACAGGCCACAGGTGGGAAGTACTGAGAGATGAACCTGGAAAGGTAGGATAGGATCAGGTCCAAGGTCCTGAATGCCAGGCTGAGAATCCCAAGTTCAATCCCAAAGGCCTTCAGCTCACAGGAGCCAAGGAGTAATAAGGTCAGATTTGTTGGAAAGATTCCAGGGCTGGTGTGAAGACTACACTGTAGGAGACGGGGACCAGGAGGGCAGCTGGGGCTATGGTACAAGAGACAGATGAGACCCCGGCTGGTTGGGAGCTGCAGTGAGGCAGGTAGGCATTTGAGATATCTTTTATCAGGGGCCCTGCATCCATCTCCCATGTCTTCTGCAACAGCCATCTCCCCTCATAGGTCAGATCCTGATGCGGCTGGTGGAGGAGAAGGCCCCTGCTTGTGTGCTGGAATTGGGAACCTACTGTGGATACTCTACCCTGCTTATTGCCCGAGCCCTGCCCCCTGGGGGTCGCCTTCTTACTGTGGAGCGGGACCCACGCACGGCAGCAGTGGCTGAAAAACTCATCCGCCTGGCCGGCTTTGATGAGCACATGGTCAGCCTCCCATCTCCCCAACCCAGATTTTTGTCACCCCAGGCCTTGCCCCCAGACATCCCTTGTGAAGGACTCCCATCTAAGGAGAAGGAAGCACCTCCACTCTGG
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CACCCTCAAATCTTGTTTTGGCACATTACCCGTCTGACATAACAAGAGCCTGACACCTCTCCCACTGCATGTTCTGGGGTGAGGGGTGGAGGGGTCAGCAATGTGTTTCACTGGACATAGAGAAATAATGTAGTTTCCTGATTGATCTACTGGACTTTGTACATGCAGCCTGGTCTGCCTACTGTCTTTACTGTCTTCGAGACTCAGTACAATGTCCTCCTGATTACCTTCTCTGACTCCATTCTCTGGACATGCCCAGCTCCCTATGCTTAATCCTCATCCAGTGTTAATTCATGCATTTATTGAATCAACAAATATTTGCTGAGCGTCTACTATGTGCCACACATTGTTATATCTGGATATGCAGCAGTTCACAAAACAGCCAAAGTCCCTGTAGTCATGGAACATCCAATAGTGATCACACTATATTGTATTCTCTGTTCCTGGGTCAGTCTCACCTACCAAACTTGGGAGTTCCTGGAGCACAGTGACAGGTTCTGACTCTTCCCTGTAGCCCAAGGCATGGCCTTGCTTACAGAAAACTTGCATATCAATGAGCATGTTACAGTCACCCCATCACCTTGGCTCACCCCATGCCCCATCTTCTGATCCAAAGTATTGGAGAAGTCACCAGATCTCATACCTCTTATAACCCCTCAAATCAAGACCCTGAGGTTCTGTAAATCTTTTGAGGTTCCTGAAGGGTAGGAGGCAGCTCAAGCTCGTCCCTGGGGCTGGTAACTTGAACTGCAGGTCTCAGGTGACAGCAGCAGCCTCAGCATGAATAATTGAAAGCCATTCCAGCCTCCTACCTCAGGGTTATCCCCCGCAGCAGGCCCTGGACTCCCCGACCTGTCCTGTGCTCTGGTCCTCCAGCCCAGGTAAGCAGGGCCCTGGATTGTGGGTTCCCAAGCTCACCAGTTCAAGCCCACCGCATCACTCACCTATTCACACCCATCCATACACTCTTTCATTTTTACTCCCCGCCATCACCAGGGGCCTTGCAAGAAGGCCGGCAAGGAGGTCAGATCTGGATGAGGAGGAGAATGGTCCAGGACATGGGAGGAGAGGCCCATTCCCCATAGGTCCCTGGAGAGAAGAGCTGAGTAGAGGGAAAATGTGTGCTGTGTGTTATGTGTATGTACACATTTGTGAAGGGAATTCTGAGACAGCACAGGAGAAGAGGGGAATACAGCGGAGAGGAGATGGGGCTGGAGAATTATTAAAGAATCAAAGACTCCTCCCATCCTCAGGGAAGAGCAGGCAGAGGGAGAGTCCTGGGGTGGGAAAGAGGACATCTCACTCTAACACCCTATGGGGTATTTTGATTGCATTTTACTGAGGCAGGGCACAGTGATAGTGAAGGTGTTTTTGACTGCAAATCTATGCTCTTTTGCTACACAGCAGTGGTCAGAGGAGACCAGGCAGGCAGAGGGTAGGGGTGGGGGAAGATATCCCAGAGGTGAATTAGTGAAAGGGGTCCTGAAGAAGGGGTGACTTCAAGGATAAAGAGAAACAAGTCAGGGGAACAATGTGAAGATGGGACCAGGGGTTGGGACCGGGAAGAGGTGGTTTGGGGCTGGGTGCTGAAAGTAGACAGTATAGAGTCCTTGAAAGTACACAGGCTTGGAATCACACTAACCTGGATTCAAATCCCAGTTCTGCTCTGTGACTCTGGACAAAAGACTTAGCCTTTCTGAGCCGTGGTTTGTGAAATATAAGGATAATAATTGCTACTGGCAAAAGCTACACAAATAGGCAAATTGTGGGTATGGGATTCCCTCCCTACCTCCCTCCACCCCAGGGCCCAGGTAGGGACCATGTCCCCTGCCATTGCATTGGCCTTCCTGCCACTGGTGGTAACATTGCTGGTGCGGTACCGGCACTACTTCCGATTGCTGGTGCGCACGGTCTTGCTGCGAAGCCTCCGAGACTGCCTGTCAGGGCTGCGGATCGAGGAGCGGGCCTTCAGCTACGTGCTCACCCATGCCCTGCCCGGTGACCCTGGTCACATCCTCACCACCCTGGACCACTGGAGCAGCCGCTGCAAGTACTTGAGCCACATGGGGCCTGTCAAAGGTCAGTGTTCCCTAGCCTTCTGCTCCAAGAAGTACCCCCAAGACAGTGAAGGAATATTTGGGATCTGTTGCTGCTTAACTGGATGAATTGGGCAGGTTCTTGATCCTCTTTTAGGGCCTCTTTTTTTTCTCATCTGGAAATGAGGAGCTTGGACTAAGTCATTTATTCAGCAAACATTTATTGCCACCTCTTTTGTATTAGGAATGTGCTAGGTGCCAGGGAGAGGGGTAGAGGCCACAGAGATGAATGAGCCACAAATGCTGGCCTCAAAGGAACCATAATACACAGTGGAATAACCATCTCAGCAGATAACCCATAGCTTTGTAATTATCTGTCTCCACATCTTTCCTCTCCACCATGGAGGCTTCCACATACCATTTAGGGTAGCTGTCTGCCTGGATTTATCTCAATCCCAGCATAAGTGCTTTTAGGGTCTTATTTAAGAAATTCGGCTGTGTGGTGGCTGGTGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGTGGGCAGATTGCTTGAGCTCAGGAGTTTGAGACCGGCTTGGGCAACATGGCAAAAACCCATCTCTACAAAAAATACAAAAATTACCCAGGCATGGTGGCACATGCCTGTGGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGGCTGAGGCTGCAGTGAGCTGTGATTGTGCCACTGCACTCCAGCATGGGTGACAGAGCAAGAACCTGTCTCAAAAAAAAAAAAAAAAAGAAAAAGAAAAGAAAAGAAATTCACTGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAAGCAGGAGGATCACTTGAGCCCAGGAGTTCGAGACTAGCCTGGGTAACAAAGCAAGACCCCCGTTTCTACAAAAAATTTAAAAATTAGCCGGGTGTGGTGGTGAGTAACTGTGGTTCCAGCTACTGGAAATGCTGAGGTGGGAGGATTGCCTGAGCCTGGGTGGTCAAGGCTGCAGTGAGCCGTGATCATGCTACTGCACTCCAGCCTGGGCAACACAGCAAGACTTGGTCTCAAAAATAAATAAATAAAAGTTCATCCAATTCCAAGATCAGAAATACATTTGATGAGCAATAAAAGGGGAATGAAACTACAAATTCTAACAGAGACCTTTCATAAATCTGAAAGATAGGGTGGTTGTTTCTGCCTGGGACTTCATGGAGAAAGAGCAACATTTGAACTGAATCTGGAAGTTCTGAGTTGGCCAGGCAGATGGCGATGGGGGTGGGAAGGGCAAAGCCAGCCACATATACACATGTGGCATGAAGGAATGAGACAGCTTGATGGATTCTGGGCACAGTTGTTTGGGATGGCTGTGATACAGGCCACAGGTGGGAAGTACTGAGAGATGAACCTGGAAAGGTAGGATAGGATCAGGTCCAAGGTCCTGAATGCCAGGCTGAGAATCCCAAGTTCAATCCCAAAGGCCTTCAGCTCACAGGAGCCAAGGAGTAATAAGGTCAGATTTGTTGGAAAGATTCCAGGGCTGGTGTGAAGACTACACTGTAGGAGACGGGGACCAGGAGGGCAGCTGGGGCTATGGTACAAGAGACAGATGAGACCCCGGCTGGTTGGGAGCTGCAGTGAGGCAGGTAGGCATTTGAGATATCTTTTATCAGGGGCCCTGCATCCATCTCCCATGTCTTCTGCAACAGCCATCTCCCCTCATAGGTCAGATCCTGATGCGGCTGGTGGAGGAGAAGGCCCCTGCTTGTGTGCTGGAATTGGGAACCTACTGTGGATACTCTACCCTGCTTATTGCCCGAGCCCTGCCCCCTGGGGGTCGCCTTCTTACTGTGGAGCGGGACCCACGCACGGCAGCAGTGGCTGAAAAACTCATCCGCCTGGCCGGCTTTGATGAGCACATGGTCAGCCTCCCATCTCCCCAACCCAGATTTTTGTCACCCCAGGCCTTGCCCCCAGACATCCCTTGTGAAGGACTCCCATCTAAGGAGAAGGAAGCACCTCCACTCTGG
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Task1_train_16266
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This genomic variant is located on Chromosome 11, within the FOLR1 (folate receptor alpha) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Cerebral folate transport deficiency
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CAGTTGAGCCCAGGAGGCAGAGATTGTAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCTTGTCAAAAGAAAGAAAGAACGAAAAAAAGAAAGAAAGGAAGGAAGGAAGGGGAGGAAGGAAAGGGAGGGAGGAAAGGGAGGGAGGAAAGGGAGGGAGGCAAGGGAGAGAAACTTGTAATACGCATTTCTTTTTTTTTTTCTTGAGATAGAGTTTTGCTCTTGTTGCCCAGGGTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGCACACGCCACCACACCCAGCTAATTTTTTGTTTGTTTGTTTGTTTTGTTTGTTGGTATTTTTAGTAGAGATGGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTCACCTCATAATCCGCCCCTCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGCGCCCGGCCTTAAGTGCACATTTTATTTATTTATTTATTTATTTATTTATTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTTGGCCTCCAGAGTAGCTGGGACTATAGGCACCTGCCACCATGCCTAGCTAATTTTTGTATTTTTAGTAGAAATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCCATTCTTGACCTTAAGTGATCTGTCCACCTCCACCTCCCAAAGTGCTGGGATTACAGGCACTATGTGAGCCACTGTGCCGGCCCACATTTTAATATTTAGCTTGTCAGCCTTAAGTAATGAGATTCAGGAAGCTTGAGGATAGGCACACAGGAGCATAGTTTCAAGTTGTCCTGAATTTTGCAGCCATCACAAGTTAGTTTTTAAGGAAAAAGATTAGTTCCTAAGTTGTTTCTCAATAACTTATAATAAAATAACATCCACAATTGATTGGCTATACATTGTTTTTTTGTATCACAAATTCCACAAACAGATAATGGGTGAGGCAGCTAGTCAGGGACAAAACACTTCCCAAGTAGCTGGGATTACAGGTGTCCGCCACCACACTTGGCTAGTTTTTTGTTTGTTTATTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAAGCTCCACCTGCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCAGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTTGATCTCTTAGCCTCGTGATCCACCCGCCTCGGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCTTGATCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACACAAGTAAGCCACTGCACCCAGCCTGGGGTTACAATTTAAATTGCTTTTTTACCTTCAAATCTTTGACACCTCAGTGAGGCTTAATCTGACCGCACTATTACACTACAAGTCCCCATCCGTCTCTGCTTAATTTTTGTCCAAAGCAAAAATCAGGTGATGTGTTCATTGTTGTAACCCCAGTTTCTACAAAAGTACCTGGGTGAGAGTAAGTAGGATCTCAATAAAGGTTGAATTAACAAATTTTGTAATGACTGCAACTCCAGCAGGAGCTCCCTTTTGGGCTCCCACTGTCTCTGACGGCCCTCTCCCCTAAAGAGGTCCCAATAGCAAGTATTTTCCTGGGTGACTTCCAGTGGGCTGGGGAATCAAGGACTAAGAGGGGAGACACTGCATGTGGAATATTCTGGCTGTGCTGGCTGTGCTGGCTGTGGACTGAGTCCTCTGTCTTCCCCCATCCAGTGTCGACCCTGGAGGAAGAATGCCTGCTGTTCTACCAACACCAGCCAGGAAGCCCATAAGGATGTTTCCTACCTATATAGATTCAACTGGAACCACTGTGGAGAGATGGCACCTGCCTGCAAACGGCATTTCATCCAGGACACCTGCCTCTACGAGTGCTCCCCCAACTTGGGGCCCTGGATCCAGCAGGTATGCATGGCTTCCTGCAGGTACAAGACCTAGCGGAGCAGCTGAGCTTTCCAGGCATCTCTGCAGGCTGCAACCCCAGCTCCAGTTCTATTCGGGGCTGAGTTGCTGGGATTCTTGAACCTGAGCCCTTCTTTTGTATCAAAATCACCCAGGTGGATCAGAGCTGGCGCAAAGAGCGGGTACTGAACGTGCCCCTGTGCAAAGAGGACTGTGAGCAATGGTGGGAAGATTGTCGCACCTCCTACACCTGCAAGAGCAACTGGCACAAGGGCTGGAACTGGACTTCAGGTGAGGGCTGGGGTGGGCAGGAATGGAGGGATTTGGAAGTGGAGGTGTGTGGGTGTGGAACAGGTATGTGACAATTTGGAGTTGTAGGGCTGGCAGACCTCAAGATAGTTCCGGGCCCAGTGGCTAAAGGTCTTCCCTCCTCTCTACAGGGTTTAACAAGTGCGCAGTGGGAGCTGCCTGCCAACCTTTCCATTTCTACTTCCCCACACCCACTGTTCTGTGCAATGAAATCTGGACTCACTCCTACAAGGTCAGCAACTACAGCCGAGGGAGTGGCCGCTGCATCCAGATGTGGTTCGACCCAGCCCAGGGCAACCCCAATGAGGAGGTGGCGAGGTTCTATGCTGCAGCCATGAGTGGGGCTGGGCCCTGGGCAGCCTGGCCTTTCCTGCTTAGCCTGGCCCTAATGCTGCTGTGGCTGCTCAGCTGACCTCCTTTTACCTTCTGATACCTGGAAATCCCTGCCCTGTTCAGCCCCACAGCTCCCAACTATTTGGTTCCTGCTCCATGGTCGGGCCTCTGACAGCCACTTTGAATAAACCAGACACCGCACATGTGTCTTGAGAATTATTTGGATATGAATGGGAACGTGACTGTTTTGTTTTCCAATTCCCATTGATTGAAACCAGTGAGACTGGGCCAATTCCTAGCTCTGACAGTTGCTATAAACTAGCCTGATACTTAACTATTTTTCTAACTTAGGAGACATTCGTAGCTCTCAATTTCATTTTTTACTATTGCTCCAATCTAGAGCCAAGCCCAGGAATTTTTCATTTGTTTGTTTTGAGACAGGGTCTCACCCAGGAATATTTTGTTTGTTTTGAGACAGGATCTCACTCTGTCACCAGGCTGGAGTGCAGTGGCATGACCTTGATTCACTGTAACATCTGCCTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCTCTCAACTTGAGACTGCAACCATGTGCCACCACACCTGGCTAATTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTTGGCCCACTGCAACCTCCTCCTCCCAAGTTCAAGTGATTCTCTTGCCTCAGCCTCCAGAGTAGCTGGGATTATAGGCATGCACCACCATGCCCGGCTGATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCGACCTCAAGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCAGCCCCACCTGGCTAATTGTTACATTTTTTTATAAAGAGGAGATCTTGGTATGTCGTCCAGGCTGATCTCAAACTCCTGGCCTGAAGCAAACCTTTCATCTCAGACTTCAAAAGTACTGGGATTACAACCGTGAGCCACCACACCCAGCGCAGTCTCAGCTCACTGCAACCTCTGCCTCCCACATTCAAGCAATTCTGCCTCAGCCTCCCGAGTACCTGGGACTATAGGTGTGGGCCACCATGCCTGGCTAATTTTTGTATTTTTATTAGAGATGGGGTTTCGCCATGTTGGCCAAGCTGGTCTGGAACTCCTAACCTCAGGTGAACCACCCACCTCA
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CAGTTGAGCCCAGGAGGCAGAGATTGTAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCTTGTCAAAAGAAAGAAAGAACGAAAAAAAGAAAGAAAGGAAGGAAGGAAGGGGAGGAAGGAAAGGGAGGGAGGAAAGGGAGGGAGGAAAGGGAGGGAGGCAAGGGAGAGAAACTTGTAATACGCATTTCTTTTTTTTTTTCTTGAGATAGAGTTTTGCTCTTGTTGCCCAGGGTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGCACACGCCACCACACCCAGCTAATTTTTTGTTTGTTTGTTTGTTTTGTTTGTTGGTATTTTTAGTAGAGATGGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTCACCTCATAATCCGCCCCTCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGCGCCCGGCCTTAAGTGCACATTTTATTTATTTATTTATTTATTTATTTATTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTTGGCCTCCAGAGTAGCTGGGACTATAGGCACCTGCCACCATGCCTAGCTAATTTTTGTATTTTTAGTAGAAATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCCATTCTTGACCTTAAGTGATCTGTCCACCTCCACCTCCCAAAGTGCTGGGATTACAGGCACTATGTGAGCCACTGTGCCGGCCCACATTTTAATATTTAGCTTGTCAGCCTTAAGTAATGAGATTCAGGAAGCTTGAGGATAGGCACACAGGAGCATAGTTTCAAGTTGTCCTGAATTTTGCAGCCATCACAAGTTAGTTTTTAAGGAAAAAGATTAGTTCCTAAGTTGTTTCTCAATAACTTATAATAAAATAACATCCACAATTGATTGGCTATACATTGTTTTTTTGTATCACAAATTCCACAAACAGATAATGGGTGAGGCAGCTAGTCAGGGACAAAACACTTCCCAAGTAGCTGGGATTACAGGTGTCCGCCACCACACTTGGCTAGTTTTTTGTTTGTTTATTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAAGCTCCACCTGCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCAGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTTGATCTCTTAGCCTCGTGATCCACCCGCCTCGGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCTTGATCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACACAAGTAAGCCACTGCACCCAGCCTGGGGTTACAATTTAAATTGCTTTTTTACCTTCAAATCTTTGACACCTCAGTGAGGCTTAATCTGACCGCACTATTACACTACAAGTCCCCATCCGTCTCTGCTTAATTTTTGTCCAAAGCAAAAATCAGGTGATGTGTTCATTGTTGTAACCCCAGTTTCTACAAAAGTACCTGGGTGAGAGTAAGTAGGATCTCAATAAAGGTTGAATTAACAAATTTTGTAATGACTGCAACTCCAGCAGGAGCTCCCTTTTGGGCTCCCACTGTCTCTGACGGCCCTCTCCCCTAAAGAGGTCCCAATAGCAAGTATTTTCCTGGGTGACTTCCAGTGGGCTGGGGAATCAAGGACTAAGAGGGGAGACACTGCATGTGGAATATTCTGGCTGTGCTGGCTGTGCTGGCTGTGGACTGAGTCCTCTGTCTTCCCCCATCCAGTGTCGACCCTGGAGGAAGAATGCCTGCTATTCTACCAACACCAGCCAGGAAGCCCATAAGGATGTTTCCTACCTATATAGATTCAACTGGAACCACTGTGGAGAGATGGCACCTGCCTGCAAACGGCATTTCATCCAGGACACCTGCCTCTACGAGTGCTCCCCCAACTTGGGGCCCTGGATCCAGCAGGTATGCATGGCTTCCTGCAGGTACAAGACCTAGCGGAGCAGCTGAGCTTTCCAGGCATCTCTGCAGGCTGCAACCCCAGCTCCAGTTCTATTCGGGGCTGAGTTGCTGGGATTCTTGAACCTGAGCCCTTCTTTTGTATCAAAATCACCCAGGTGGATCAGAGCTGGCGCAAAGAGCGGGTACTGAACGTGCCCCTGTGCAAAGAGGACTGTGAGCAATGGTGGGAAGATTGTCGCACCTCCTACACCTGCAAGAGCAACTGGCACAAGGGCTGGAACTGGACTTCAGGTGAGGGCTGGGGTGGGCAGGAATGGAGGGATTTGGAAGTGGAGGTGTGTGGGTGTGGAACAGGTATGTGACAATTTGGAGTTGTAGGGCTGGCAGACCTCAAGATAGTTCCGGGCCCAGTGGCTAAAGGTCTTCCCTCCTCTCTACAGGGTTTAACAAGTGCGCAGTGGGAGCTGCCTGCCAACCTTTCCATTTCTACTTCCCCACACCCACTGTTCTGTGCAATGAAATCTGGACTCACTCCTACAAGGTCAGCAACTACAGCCGAGGGAGTGGCCGCTGCATCCAGATGTGGTTCGACCCAGCCCAGGGCAACCCCAATGAGGAGGTGGCGAGGTTCTATGCTGCAGCCATGAGTGGGGCTGGGCCCTGGGCAGCCTGGCCTTTCCTGCTTAGCCTGGCCCTAATGCTGCTGTGGCTGCTCAGCTGACCTCCTTTTACCTTCTGATACCTGGAAATCCCTGCCCTGTTCAGCCCCACAGCTCCCAACTATTTGGTTCCTGCTCCATGGTCGGGCCTCTGACAGCCACTTTGAATAAACCAGACACCGCACATGTGTCTTGAGAATTATTTGGATATGAATGGGAACGTGACTGTTTTGTTTTCCAATTCCCATTGATTGAAACCAGTGAGACTGGGCCAATTCCTAGCTCTGACAGTTGCTATAAACTAGCCTGATACTTAACTATTTTTCTAACTTAGGAGACATTCGTAGCTCTCAATTTCATTTTTTACTATTGCTCCAATCTAGAGCCAAGCCCAGGAATTTTTCATTTGTTTGTTTTGAGACAGGGTCTCACCCAGGAATATTTTGTTTGTTTTGAGACAGGATCTCACTCTGTCACCAGGCTGGAGTGCAGTGGCATGACCTTGATTCACTGTAACATCTGCCTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCTCTCAACTTGAGACTGCAACCATGTGCCACCACACCTGGCTAATTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTTGGCCCACTGCAACCTCCTCCTCCCAAGTTCAAGTGATTCTCTTGCCTCAGCCTCCAGAGTAGCTGGGATTATAGGCATGCACCACCATGCCCGGCTGATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCGACCTCAAGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCAGCCCCACCTGGCTAATTGTTACATTTTTTTATAAAGAGGAGATCTTGGTATGTCGTCCAGGCTGATCTCAAACTCCTGGCCTGAAGCAAACCTTTCATCTCAGACTTCAAAAGTACTGGGATTACAACCGTGAGCCACCACACCCAGCGCAGTCTCAGCTCACTGCAACCTCTGCCTCCCACATTCAAGCAATTCTGCCTCAGCCTCCCGAGTACCTGGGACTATAGGTGTGGGCCACCATGCCTGGCTAATTTTTGTATTTTTATTAGAGATGGGGTTTCGCCATGTTGGCCAAGCTGGTCTGGAACTCCTAACCTCAGGTGAACCACCCACCTCA
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Task1_train_16267
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Consider a variant on Chromosome 11 in gene INPPL1 (inositol polyphosphate phosphatase like 1). Determine its clinical classification and disease relevance.
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Pathogenic; Opsismodysplasia
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TGCCCCCGCGCTCTGGCTCCACCAGCATTTCTGCCCCCACTGGGCCCAGCAGTCCCCTGCCAGCTCCTGAGACTCCCACAGCTCCAGCTGCTGAGAGGTGAGACCCCCATCCCATCCACTGAACAGGAGACCCTTTCTCCTCTGAGAACTATTTCCCTACCAAAGGTGGGGAGGCCTTCTAAGACCCCACCAGGGACCCCCACCCCACCTCAGCCCAGAGGCAGATAACCTGATCCATCCCGCCCTGGTTGCCACAGGTACTATCTCCTCTAGGGATGGGGCAGAGGTGCTGGGACAGGTCAGCAGGACCTCCACTGACTTCTTAACCCCTCCCCAAAGTGCTCCCAATGGGCTGAGCACCGTCTCGCACGACTACCTGAAAGGCAGCTATGGGCTGGACCTGGAAGCTGTGAGGGGTGGAGCCAGCCACCTGCCCCACCTCACCCGTACCCTCGCTACCTCATGCCGGAGGCTGCACAGGTATCTGGGACATCCAGCCCCATGTATTACACCCTTACCTCTGACCTGTCCTCACCTGCTTCCCGGCTGCACAGGTGCCCTGATCTCTGATCCTGAACAGTGAACTAGCCATTGCCTCTTGACTTTCCTCACTGGTAGCCTTTATCCTTGTGGTGAGGTTGAGGCTACACCCAGCGCCCCCTTCCCTATACTTAGGTCGGGGTGGGAGTTCTTTTGATCTGATGTCTTCCCTAGTGAGGTGGACAAGGTCCTGTCAGGCCTGGAGATCCTGTCCAAGGTGTTTGACCAGCAGAGCTCGCCCATGGTGACCCGCCTTTTGCAGCAGCAGGTAGATTGTAGGGAGACCTCTGGGAGGTGCGTTCGTGTTCTGGAGCTGGGTGGGAGGCTCTGCTTAGGTGACTCATGTACAAGCCTGGTTCTTCCTCCCCCCAGAACCTGCCACAGACAGGGGAGCAGGAACTAGAGAGCCTGGTGCTGAAGCTGTCAGTGCTAAAGGACTTCCTGTCAGGCATCCAGAAGAAGGTGGCATGATCTCTGACCCTTGACCCCCGATTCACTGGCCACTGTCATTGGCCTAGCACTGATCTCAACCCTCAGTCTACAACTTAACATTGGCCCCAAGGTCAATTGTGTCCCTCCCTGCCCCAGCCTTCAGTGTGTCCCCTGACCCCGCCCTGCCCTTGTTCCCTCCAGGCCCTGAAGGCCCTACAGGACATGAGCTCCACAGCACCCCCAGCTCCGCAGCCATCCACACGTAAGGCCAAGACCATCCCCGTGCAGGCCTTTGAGGTACATGGCAGTGGGGCCTCACAGGGCCAAGGGTGGTTGGAGGTGACCAGGGTGCTGCCTACTCCAAGGTCTTGTCAGCAGCCTCCCCACCTGGCCTACAGGTGAAGCTAGATGTGACCCTGGGTGACCTGACCAAGATTGGGAAGTCACAGAAGTTCACGCTGAGCGTGGATGTGGAGGGTGGGCGGCTGGTGCTGCTGCGGAGACAGCGGGACTCCCAGGAGGACTGGACCACCTTCACGCACGACCGCAGTGAGCCAGGGCCAGACCTGGGAGGGGTGGGCAGGGCGGAGCCCCTGGCCTAGGGGCACAGGCCCATGTGACCGGTCCTCCATGCCCTAGTCCGCCAGCTCATTAAGTCCCAGCGTGTCCAGAACAAGCTGGGTGTTGTGTTTGAGAAGGAGAAGGACCGGACTCAGCGCAAGGACTTCATCTTTGTCAGTGCCCGGGTGAGCAGCAGGCTGGGCCAGGCCACTGGGGACTGCGGGGGTCCCCCACATGGGTGCTTCCCATTGGAGGGTAAGAAAGGGAACACATGATGTAGGCATGCCATCCCTCCTGGCAGGGGTAGGTCTGACAGGGTAGAGGGTGTTGAGAACGGGTGGCCTGAGGGTGGATAACATTTGCCAGCACTGTTATATGCTTGAGCAGTGGGTATGCAGTGGAGAACCAGACAGACCCTCTCCTCATGGACATGAGCCAACTGGCAGGGTATCCCTGTGGACGGGGGGCTTCCTGGATGCCTACCCGCCCCTGAGTGGCTGCTGTTCCCCCAGAAGCGGGAGGCCTTCTGCCAGCTGTTGCAGCTCATGAAGAACAAGCACTCCAAGCAGGACGAGCCCGACATGATCTCAGTCTTCATAGGCACCTGGAACATGGGTCAGGCCCGGGCTGGGGCTGGGGCGGGAGAGAGGGATGGCCCCAGAGCAGGTGCCTAACCCCTCCAGACCCACCTCACCCCCTTCACCTCCAGGAAGTGTACCACCTCCAAAAAACGTGACATCCTGGTTCACATCGAAGGGTCTGGGGAAGACCCTGGACGAGGTCACAGTGACCATACCCCATGACATCTATGTCTTTGGGACCCAGGAGAACTCAGTGGGCGACCGCGAGTGGCTGGACCTACTGCGCGGGGGCCTCAAGGAGCTTACGGATCTGGATTACCGCCCGGTGAGGGGGGGTCATCTTGTCCAGGACCCTGTCCTCACACACCACCTCCAAACTAGCCTACTTGACTTCATGGGCAACCCTGGGAGCACAGCTTCACTGGCTTTTTCTCTGGTCCCTGAGCATATCCTTTGGGAGATCTGACCTGAGTCCTTCATGCCACGAGAGGAACCATTTCTCTCCAGTCCGTCAGGAAGAGGGGTGGCAAGCCTTCCTACCCTGTGATGGACACAAAAGTCTATTTATAGTGCAGGGGGAAATGCAGGCAGTGGGTGCAGCAGGGCAGTGGTGACCATGCACTCTCTACCCAGATTGCCATGCAATCACTGTGGAATATCAAGGTGGCAGTGCTGGTCAAGCCAGAGCACGAGAACCGTATCAGCCATGTCAGTACGTCCAGTGTGAAGACTGGCATCGCCAACACCCTGGGTAAGTGGGGCTGGCAGGTGCCCAAGAGTGGCAGCGTCTCTCTGTCCATGGCTTCTGCTTCCTCTCAAGCCTAGGATTGCCCCATTTTTGGTGATCTTAGTTTCCCCATATATAGGGTACTTTGAACTTTGAAAAACATATTCATATTCTAAATCTCTCCCAGCACCACTGGGAAGGCAAGGCCAGGATAATTACCCCCTTTTCACAGATGATAAAACTCAAACCCAGAGTGGTTGAGTGACCTGCCCAAGGTCACACAGCAAGTAAGTGGTGGAGCCAGGCATTGTGCCCAGGTCTCCTGATTTTCGGTCTGGTGCTCTCCCAGGTAGATTCTGCGCAGAATCTGCAGGGCCTTTCAGCTTCACCCTTGGGGTCCCCTGTGATCTCCAGGGGCTCTGCTCACACATACAGACAGACTCAGGCCATCCACACAGACCATGTGTGCCCAATGAGGACCCCCCCCTCCCCCAGGGAAGGTGTGGGTGTGTGCAGGGGCCTGCCCATGTCACAGCGTCTGGTGGGCTCAGCGGGAGGATCCTCTCACTGCAGCTTTGAGAGGCAGAAGGGAGAGTTGGGAGCCCTCTGAGGATGACCCAGGCCTTCCTCTCTTGCTTGCCTTAACAGGGAACAAGGGGGCTGTGGGCGTCTCCTTCATGTTTAATGGCACCTCATTTGGCTTTGTGAATTGTCACCTCACCTCGGGAAATGAGAAGACGGCTCGGTGAGGGGGCGCCTTTCCCATGGTCTCTTTACACCCATCCCATTCACCTGAGGCCTGTTCCCGCTCCCATACCCTAGCCCATGACCCTCCCGCAGGCCTGTCTCCAGAGACCCCCTGCTCTCTTATCCCAATTCAAGACCCTTCTGTTCCTGACCCTAACCTTGTCCCCAGGGGCCCGGATCTTTACCCCATCCCTGACTCCTGAGACTTCTTCCCTTTATGCCTATCCCTGACTTCTGGCCCTGACCCTGGGGATCTACCCCTCCCCACCACGCACCCCTCACCCTAGGAGGAACCAAAACTACTTGGACATCCTGCGGCTGCTCTCGCTGGGCGACCGGCAGCTCAATGCCTTTGACATCTCTCTGCGTTTCACACACCTCTTCTGGTTTGGGGACCTCAACTACCGCCTGGACATGGATATCCAGGTGCGAGCAGGGCCCTGCCATGGCTGTAGGGAGGCTAAGGGCCACATGGGCTATCACCCCTGGCTCTGGCTCCGGAGGAATG
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TGCCCCCGCGCTCTGGCTCCACCAGCATTTCTGCCCCCACTGGGCCCAGCAGTCCCCTGCCAGCTCCTGAGACTCCCACAGCTCCAGCTGCTGAGAGGTGAGACCCCCATCCCATCCACTGAACAGGAGACCCTTTCTCCTCTGAGAACTATTTCCCTACCAAAGGTGGGGAGGCCTTCTAAGACCCCACCAGGGACCCCCACCCCACCTCAGCCCAGAGGCAGATAACCTGATCCATCCCGCCCTGGTTGCCACAGGTACTATCTCCTCTAGGGATGGGGCAGAGGTGCTGGGACAGGTCAGCAGGACCTCCACTGACTTCTTAACCCCTCCCCAAAGTGCTCCCAATGGGCTGAGCACCGTCTCGCACGACTACCTGAAAGGCAGCTATGGGCTGGACCTGGAAGCTGTGAGGGGTGGAGCCAGCCACCTGCCCCACCTCACCCGTACCCTCGCTACCTCATGCCGGAGGCTGCACAGGTATCTGGGACATCCAGCCCCATGTATTACACCCTTACCTCTGACCTGTCCTCACCTGCTTCCCGGCTGCACAGGTGCCCTGATCTCTGATCCTGAACAGTGAACTAGCCATTGCCTCTTGACTTTCCTCACTGGTAGCCTTTATCCTTGTGGTGAGGTTGAGGCTACACCCAGCGCCCCCTTCCCTATACTTAGGTCGGGGTGGGAGTTCTTTTGATCTGATGTCTTCCCTAGTGAGGTGGACAAGGTCCTGTCAGGCCTGGAGATCCTGTCCAAGGTGTTTGACCAGCAGAGCTCGCCCATGGTGACCCGCCTTTTGCAGCAGCAGGTAGATTGTAGGGAGACCTCTGGGAGGTGCGTTCGTGTTCTGGAGCTGGGTGGGAGGCTCTGCTTAGGTGACTCATGTACAAGCCTGGTTCTTCCTCCCCCCAGAACCTGCCACAGACAGGGGAGCAGGAACTAGAGAGCCTGGTGCTGAAGCTGTCAGTGCTAAAGGACTTCCTGTCAGGCATCCAGAAGAAGGTGGCATGATCTCTGACCCTTGACCCCCGATTCACTGGCCACTGTCATTGGCCTAGCACTGATCTCAACCCTCAGTCTACAACTTAACATTGGCCCCAAGGTCAATTGTGTCCCTCCCTGCCCCAGCCTTCAGTGTGTCCCCTGACCCCGCCCTGCCCTTGTTCCCTCCAGGCCCTGAAGGCCCTACAGGACATGAGCTCCACAGCACCCCCAGCTCCGCAGCCATCCACACGTAAGGCCAAGACCATCCCCGTGCAGGCCTTTGAGGTACATGGCAGTGGGGCCTCACAGGGCCAAGGGTGGTTGGAGGTGACCAGGGTGCTGCCTACTCCAAGGTCTTGTCAGCAGCCTCCCCACCTGGCCTACAGGTGAAGCTAGATGTGACCCTGGGTGACCTGACCAAGATTGGGAAGTCACAGAAGTTCACGCTGAGCGTGGATGTGGAGGGTGGGCGGCTGGTGCTGCTGCGGAGACAGCGGGACTCCCAGGAGGACTGGACCACCTTCACGCACGACCGCAGTGAGCCAGGGCCAGACCTGGGAGGGGTGGGCAGGGCGGAGCCCCTGGCCTAGGGGCACAGGCCCATGTGACCGGTCCTCCATGCCCTAGTCCGCCAGCTCATTAAGTCCCAGCGTGTCCAGAACAAGCTGGGTGTTGTGTTTGAGAAGGAGAAGGACCGGACTCAGCGCAAGGACTTCATCTTTGTCAGTGCCCGGGTGAGCAGCAGGCTGGGCCAGGCCACTGGGGACTGCGGGGGTCCCCCACATGGGTGCTTCCCATTGGAGGGTAAGAAAGGGAACACATGATGTAGGCATGCCATCCCTCCTGGCAGGGGTAGGTCTGACAGGGTAGAGGGTGTTGAGAACGGGTGGCCTGAGGGTGGATAACATTTGCCAGCACTGTTATATGCTTGAGCAGTGGGTATGCAGTGGAGAACCAGACAGACCCTCTCCTCATGGACATGAGCCAACTGGCAGGGTATCCCTGTGGACGGGGGGCTTCCTGGATGCCTACCCGCCCCTGAGTGGCTGCTGTTCCCCCAGAAGTGGGAGGCCTTCTGCCAGCTGTTGCAGCTCATGAAGAACAAGCACTCCAAGCAGGACGAGCCCGACATGATCTCAGTCTTCATAGGCACCTGGAACATGGGTCAGGCCCGGGCTGGGGCTGGGGCGGGAGAGAGGGATGGCCCCAGAGCAGGTGCCTAACCCCTCCAGACCCACCTCACCCCCTTCACCTCCAGGAAGTGTACCACCTCCAAAAAACGTGACATCCTGGTTCACATCGAAGGGTCTGGGGAAGACCCTGGACGAGGTCACAGTGACCATACCCCATGACATCTATGTCTTTGGGACCCAGGAGAACTCAGTGGGCGACCGCGAGTGGCTGGACCTACTGCGCGGGGGCCTCAAGGAGCTTACGGATCTGGATTACCGCCCGGTGAGGGGGGGTCATCTTGTCCAGGACCCTGTCCTCACACACCACCTCCAAACTAGCCTACTTGACTTCATGGGCAACCCTGGGAGCACAGCTTCACTGGCTTTTTCTCTGGTCCCTGAGCATATCCTTTGGGAGATCTGACCTGAGTCCTTCATGCCACGAGAGGAACCATTTCTCTCCAGTCCGTCAGGAAGAGGGGTGGCAAGCCTTCCTACCCTGTGATGGACACAAAAGTCTATTTATAGTGCAGGGGGAAATGCAGGCAGTGGGTGCAGCAGGGCAGTGGTGACCATGCACTCTCTACCCAGATTGCCATGCAATCACTGTGGAATATCAAGGTGGCAGTGCTGGTCAAGCCAGAGCACGAGAACCGTATCAGCCATGTCAGTACGTCCAGTGTGAAGACTGGCATCGCCAACACCCTGGGTAAGTGGGGCTGGCAGGTGCCCAAGAGTGGCAGCGTCTCTCTGTCCATGGCTTCTGCTTCCTCTCAAGCCTAGGATTGCCCCATTTTTGGTGATCTTAGTTTCCCCATATATAGGGTACTTTGAACTTTGAAAAACATATTCATATTCTAAATCTCTCCCAGCACCACTGGGAAGGCAAGGCCAGGATAATTACCCCCTTTTCACAGATGATAAAACTCAAACCCAGAGTGGTTGAGTGACCTGCCCAAGGTCACACAGCAAGTAAGTGGTGGAGCCAGGCATTGTGCCCAGGTCTCCTGATTTTCGGTCTGGTGCTCTCCCAGGTAGATTCTGCGCAGAATCTGCAGGGCCTTTCAGCTTCACCCTTGGGGTCCCCTGTGATCTCCAGGGGCTCTGCTCACACATACAGACAGACTCAGGCCATCCACACAGACCATGTGTGCCCAATGAGGACCCCCCCCTCCCCCAGGGAAGGTGTGGGTGTGTGCAGGGGCCTGCCCATGTCACAGCGTCTGGTGGGCTCAGCGGGAGGATCCTCTCACTGCAGCTTTGAGAGGCAGAAGGGAGAGTTGGGAGCCCTCTGAGGATGACCCAGGCCTTCCTCTCTTGCTTGCCTTAACAGGGAACAAGGGGGCTGTGGGCGTCTCCTTCATGTTTAATGGCACCTCATTTGGCTTTGTGAATTGTCACCTCACCTCGGGAAATGAGAAGACGGCTCGGTGAGGGGGCGCCTTTCCCATGGTCTCTTTACACCCATCCCATTCACCTGAGGCCTGTTCCCGCTCCCATACCCTAGCCCATGACCCTCCCGCAGGCCTGTCTCCAGAGACCCCCTGCTCTCTTATCCCAATTCAAGACCCTTCTGTTCCTGACCCTAACCTTGTCCCCAGGGGCCCGGATCTTTACCCCATCCCTGACTCCTGAGACTTCTTCCCTTTATGCCTATCCCTGACTTCTGGCCCTGACCCTGGGGATCTACCCCTCCCCACCACGCACCCCTCACCCTAGGAGGAACCAAAACTACTTGGACATCCTGCGGCTGCTCTCGCTGGGCGACCGGCAGCTCAATGCCTTTGACATCTCTCTGCGTTTCACACACCTCTTCTGGTTTGGGGACCTCAACTACCGCCTGGACATGGATATCCAGGTGCGAGCAGGGCCCTGCCATGGCTGTAGGGAGGCTAAGGGCCACATGGGCTATCACCCCTGGCTCTGGCTCCGGAGGAATG
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Task1_train_16268
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A genetic alteration is present in INPPL1 (inositol polyphosphate phosphatase like 1) on Chromosome 11. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Opsismodysplasia
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AGACCCTGGACGAGGTCACAGTGACCATACCCCATGACATCTATGTCTTTGGGACCCAGGAGAACTCAGTGGGCGACCGCGAGTGGCTGGACCTACTGCGCGGGGGCCTCAAGGAGCTTACGGATCTGGATTACCGCCCGGTGAGGGGGGGTCATCTTGTCCAGGACCCTGTCCTCACACACCACCTCCAAACTAGCCTACTTGACTTCATGGGCAACCCTGGGAGCACAGCTTCACTGGCTTTTTCTCTGGTCCCTGAGCATATCCTTTGGGAGATCTGACCTGAGTCCTTCATGCCACGAGAGGAACCATTTCTCTCCAGTCCGTCAGGAAGAGGGGTGGCAAGCCTTCCTACCCTGTGATGGACACAAAAGTCTATTTATAGTGCAGGGGGAAATGCAGGCAGTGGGTGCAGCAGGGCAGTGGTGACCATGCACTCTCTACCCAGATTGCCATGCAATCACTGTGGAATATCAAGGTGGCAGTGCTGGTCAAGCCAGAGCACGAGAACCGTATCAGCCATGTCAGTACGTCCAGTGTGAAGACTGGCATCGCCAACACCCTGGGTAAGTGGGGCTGGCAGGTGCCCAAGAGTGGCAGCGTCTCTCTGTCCATGGCTTCTGCTTCCTCTCAAGCCTAGGATTGCCCCATTTTTGGTGATCTTAGTTTCCCCATATATAGGGTACTTTGAACTTTGAAAAACATATTCATATTCTAAATCTCTCCCAGCACCACTGGGAAGGCAAGGCCAGGATAATTACCCCCTTTTCACAGATGATAAAACTCAAACCCAGAGTGGTTGAGTGACCTGCCCAAGGTCACACAGCAAGTAAGTGGTGGAGCCAGGCATTGTGCCCAGGTCTCCTGATTTTCGGTCTGGTGCTCTCCCAGGTAGATTCTGCGCAGAATCTGCAGGGCCTTTCAGCTTCACCCTTGGGGTCCCCTGTGATCTCCAGGGGCTCTGCTCACACATACAGACAGACTCAGGCCATCCACACAGACCATGTGTGCCCAATGAGGACCCCCCCCTCCCCCAGGGAAGGTGTGGGTGTGTGCAGGGGCCTGCCCATGTCACAGCGTCTGGTGGGCTCAGCGGGAGGATCCTCTCACTGCAGCTTTGAGAGGCAGAAGGGAGAGTTGGGAGCCCTCTGAGGATGACCCAGGCCTTCCTCTCTTGCTTGCCTTAACAGGGAACAAGGGGGCTGTGGGCGTCTCCTTCATGTTTAATGGCACCTCATTTGGCTTTGTGAATTGTCACCTCACCTCGGGAAATGAGAAGACGGCTCGGTGAGGGGGCGCCTTTCCCATGGTCTCTTTACACCCATCCCATTCACCTGAGGCCTGTTCCCGCTCCCATACCCTAGCCCATGACCCTCCCGCAGGCCTGTCTCCAGAGACCCCCTGCTCTCTTATCCCAATTCAAGACCCTTCTGTTCCTGACCCTAACCTTGTCCCCAGGGGCCCGGATCTTTACCCCATCCCTGACTCCTGAGACTTCTTCCCTTTATGCCTATCCCTGACTTCTGGCCCTGACCCTGGGGATCTACCCCTCCCCACCACGCACCCCTCACCCTAGGAGGAACCAAAACTACTTGGACATCCTGCGGCTGCTCTCGCTGGGCGACCGGCAGCTCAATGCCTTTGACATCTCTCTGCGTTTCACACACCTCTTCTGGTTTGGGGACCTCAACTACCGCCTGGACATGGATATCCAGGTGCGAGCAGGGCCCTGCCATGGCTGTAGGGAGGCTAAGGGCCACATGGGCTATCACCCCTGGCTCTGGCTCCGGAGGAATGTTTCTAGCCTTTGTGTCCTCCACCCCAGGAGATCCTGAACTACATCAGCAGGAAAGAGTTTGAGCCCCTCCTCAGGGTGGACCAGCTCAACCTGGAGCGGGAGAAGCACAAGGTCTTCCTTCGATTCAGTGAGTGTGGGCCTGGTAGGTGGTGATCTGAGGGCTAGGAGACTTGCAGTATCCCTGGGTGTCAGGGCCCTGAACCCCACCTGTCTCCTGCTTTCCTTAGGTGAGGAGGAGATCTCCTTCCCACCCACCTACCGCTATGAGCGGGGTTCCCGGGACACATATGCCTGGCACAAGCAGAAGCCAACTGGGGTGAGCCAAGAAAACGGCATGGGCCTTGGGGGACCGCAGGCCTGCGATGAATCAAGAATTTGGGTCAAGGGTATGGGCCTCTGCAGCTTCCACTCCAGCCTCCATGGCCCCTCTGAGGCCTTTGGGTGATCCTGGGTATTTTGAGGATCCAAGAAGGGAGGTGGGTGCTAGGGCCTCTAGTAATAGAAGTGTGGGGACTCATCAGCTCTGGAGTGGGGTCCATGCCAAGCAGCCTCCTAGCTGTCAGCTCTAACCATGCTGCCATCCCCTGCCCCAGGTCCGGACCAATGTGCCCTCATGGTGTGACCGGATTCTGTGGAAATCCTACCCTGAAACTCACATCATCTGCAATTCTTATGGTCAGAGCCTCCCGGACAGAGTGATGGGAGATCTGGGGTGGTCACCATCTGGACTCTGCCCTAACCTTGGGAGGTGGGAGCCGAGGGTGGGAATATTCCCCCTGAGTCCCCATTCCTATCCCCTCTCCCCAGGTTGCACTGATGACATCGTCACCAGCGACCATTCCCCCGTGTTTGGGACATTTGAGGTTGGAGTTACCTCCCAGTTCATCTCCAAGAAAGGTGACTGTTCCAGATATGCTTGTGGGTGTGGCATAATCTAGGTGGGCACAGGTGGTGGCCTCGGGATGTACATAGGTTTGACTATGTAAGTGTGTGTGTGGGTGTGTGTACCAGTGAGTGCAGGAGTGTTTCTCAAGGTGTGATGTGTCAGGGTGTCTGTGCGCCTGGGCCATCACAAGAGTTGTGTGCCCATGAGTGTGTGTGCATACGTGAGTGTACACCTATCTATGTGTCTGTGTCTGTCTAGGGCCACGTGTGTGTCCCTGAGTATGCCTGTAGGTGTGGGAATCCTGCAGGCATTCTGGTCCCCAGCACCCTCTTCAATGGGTTTTTTATCCTTGGGTTGTCTCTTTGCTCTGGTCCAGGGTCTGGCCTCTGGAGATTCCCTGTTGGTGGCTTGGGACTGGGGAGGCCCCTCCTGGCCCTGCCTCCTTGCTCTGGACCCCTGATTTCCTGTCCCAGGGCCCTGTTTCTCTGTCCCATTCCTCCTGTGATCCTCTCAGTCCTCCTGTTTGTTCTCCTCCCTTTCTCCTCAGGGCTCTCAAAGACTTCAGACCAGGCCTACATTGAGTTTGAGAGCATCGAGGCCATTGTGAAGACAGCCAGCCGCACCAAGTTCTTCATCGAGTTCTACTCTACCTGCCTGGAGGGTCAGAGGCGTGGCAGGGGCTGGGTGTGGGCCAAGGAGGATGGGAGGCAAGAGGGTGCAGTCAGCCCCCTACTTAGGGGGAAAGGAAGCTGAGAGGTGGTGCTCAGTTGGGTGTCTCCCACCCCCACCCCAGAATACAAGAAGAGCTTTGAGAATGATGCCCAGAGCAGTGACAACATCAACTTCCTCAAAGTGCAGTGGTCTTCACGCCAGCTGCCCACGGTGAGGCTGTGGGCAGGGCCCCTGCTTATGGGTGAGGGCACAGAGAGGGGTACATAAGAGTTTATTGGAGAGCCTGCCTGGGAGGGAGTGTGGGGCCAGCAGAGAGAGAGAGAGAGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGGGCATGGGCATGAGTGAGGATAAAGGCGTTTGCTTTATTTTGGGAGTGTGGAACCTTGTTGCAGTTTGTTCATTCATTCAGGAGATGCTTCTTGAGCTTTTGCTAGATGTCAGGTCCTGTGTTAGCTATTGAGAAAATTAATTAGTTACAGTGATGCTAGGTGCTGTAAAAGGCCTGTATAGGGCTGTGTCTTCTGCATTAAGGATTTGGCTCTTCTCTGAAGAGTTGAGTGTGAGTGAGCACAGATGACCTGAGGGTGGGGATTGAGTGGTGTCAGGGGGCAGCGCGTAGGAGGGGCAGGAGGAAGTGGCGGGGCTTTGTTCCTCACTGGGCCTCCCTGCTTCCCAGCTCAAACCAATTCTGGCTGATATCGAGTAC
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AGACCCTGGACGAGGTCACAGTGACCATACCCCATGACATCTATGTCTTTGGGACCCAGGAGAACTCAGTGGGCGACCGCGAGTGGCTGGACCTACTGCGCGGGGGCCTCAAGGAGCTTACGGATCTGGATTACCGCCCGGTGAGGGGGGGTCATCTTGTCCAGGACCCTGTCCTCACACACCACCTCCAAACTAGCCTACTTGACTTCATGGGCAACCCTGGGAGCACAGCTTCACTGGCTTTTTCTCTGGTCCCTGAGCATATCCTTTGGGAGATCTGACCTGAGTCCTTCATGCCACGAGAGGAACCATTTCTCTCCAGTCCGTCAGGAAGAGGGGTGGCAAGCCTTCCTACCCTGTGATGGACACAAAAGTCTATTTATAGTGCAGGGGGAAATGCAGGCAGTGGGTGCAGCAGGGCAGTGGTGACCATGCACTCTCTACCCAGATTGCCATGCAATCACTGTGGAATATCAAGGTGGCAGTGCTGGTCAAGCCAGAGCACGAGAACCGTATCAGCCATGTCAGTACGTCCAGTGTGAAGACTGGCATCGCCAACACCCTGGGTAAGTGGGGCTGGCAGGTGCCCAAGAGTGGCAGCGTCTCTCTGTCCATGGCTTCTGCTTCCTCTCAAGCCTAGGATTGCCCCATTTTTGGTGATCTTAGTTTCCCCATATATAGGGTACTTTGAACTTTGAAAAACATATTCATATTCTAAATCTCTCCCAGCACCACTGGGAAGGCAAGGCCAGGATAATTACCCCCTTTTCACAGATGATAAAACTCAAACCCAGAGTGGTTGAGTGACCTGCCCAAGGTCACACAGCAAGTAAGTGGTGGAGCCAGGCATTGTGCCCAGGTCTCCTGATTTTCGGTCTGGTGCTCTCCCAGGTAGATTCTGCGCAGAATCTGCAGGGCCTTTCAGCTTCACCCTTGGGGTCCCCTGTGATCTCCAGGGGCTCTGCTCACACATACAGACAGACTCAGGCCATCCACACAGACCATGTGTGCCCAATGAGGACCCCCCCCTCCCCCAGGGAAGGTGTGGGTGTGTGCAGGGGCCTGCCCATGTCACAGCGTCTGGTGGGCTCAGCGGGAGGATCCTCTCACTGCAGCTTTGAGAGGCAGAAGGGAGAGTTGGGAGCCCTCTGAGGATGACCCAGGCCTTCCTCTCTTGCTTGCCTTAACAGGGAACAAGGGGGCTGTGGGCGTCTCCTTCATGTTTAATGGCACCTCATTTGGCTTTGTGAATTGTCACCTCACCTCGGGAAATGAGAAGACGGCTCGGTGAGGGGGCGCCTTTCCCATGGTCTCTTTACACCCATCCCATTCACCTGAGGCCTGTTCCCGCTCCCATACCCTAGCCCATGACCCTCCCGCAGGCCTGTCTCCAGAGACCCCCTGCTCTCTTATCCCAATTCAAGACCCTTCTGTTCCTGACCCTAACCTTGTCCCCAGGGGCCCGGATCTTTACCCCATCCCTGACTCCTGAGACTTCTTCCCTTTATGCCTATCCCTGACTTCTGGCCCTGACCCTGGGGATCTACCCCTCCCCACCACGCACCCCTCACCCTAGGAGGAACCAAAACTACTTGGACATCCTGCGGCTGCTCTCGCTGGGCGACCGGCAGCTCAATGCCTTTGACATCTCTCTGCGTTTCACACACCTCTTCTGGTTTGGGGACCTCAACTACCGCCTGGACATGGATATCCAGGTGCGAGCAGGGCCCTGCCATGGCTGTAGGGAGGCTAAGGGCCACATGGGCTATCACCCCTGGCTCTGGCTCCGGAGGAATGTTTCTAGCCTTTGTGTCCTCCACCCCAGGAGATCCTGAACTACATCAGCAGGAAAGAGTTTGAGCCCCTCCTCAGGGTGGACCAGCTCAACCTGGAGCGGGAGAAGCACAAGGTCTTCCTTCGATTCAGTGAGTGTGGGCCTGGTAGGTGGTGATCTGAGGGCTAGGAGACTTGCAGTATCCCTGGGTGTCAGGGCCCTGAACCCCACCTGTCTCCTGCTTTCCTTAGGTGAGGAGGAGATCTCCTTCCCATCCACCTACCGCTATGAGCGGGGTTCCCGGGACACATATGCCTGGCACAAGCAGAAGCCAACTGGGGTGAGCCAAGAAAACGGCATGGGCCTTGGGGGACCGCAGGCCTGCGATGAATCAAGAATTTGGGTCAAGGGTATGGGCCTCTGCAGCTTCCACTCCAGCCTCCATGGCCCCTCTGAGGCCTTTGGGTGATCCTGGGTATTTTGAGGATCCAAGAAGGGAGGTGGGTGCTAGGGCCTCTAGTAATAGAAGTGTGGGGACTCATCAGCTCTGGAGTGGGGTCCATGCCAAGCAGCCTCCTAGCTGTCAGCTCTAACCATGCTGCCATCCCCTGCCCCAGGTCCGGACCAATGTGCCCTCATGGTGTGACCGGATTCTGTGGAAATCCTACCCTGAAACTCACATCATCTGCAATTCTTATGGTCAGAGCCTCCCGGACAGAGTGATGGGAGATCTGGGGTGGTCACCATCTGGACTCTGCCCTAACCTTGGGAGGTGGGAGCCGAGGGTGGGAATATTCCCCCTGAGTCCCCATTCCTATCCCCTCTCCCCAGGTTGCACTGATGACATCGTCACCAGCGACCATTCCCCCGTGTTTGGGACATTTGAGGTTGGAGTTACCTCCCAGTTCATCTCCAAGAAAGGTGACTGTTCCAGATATGCTTGTGGGTGTGGCATAATCTAGGTGGGCACAGGTGGTGGCCTCGGGATGTACATAGGTTTGACTATGTAAGTGTGTGTGTGGGTGTGTGTACCAGTGAGTGCAGGAGTGTTTCTCAAGGTGTGATGTGTCAGGGTGTCTGTGCGCCTGGGCCATCACAAGAGTTGTGTGCCCATGAGTGTGTGTGCATACGTGAGTGTACACCTATCTATGTGTCTGTGTCTGTCTAGGGCCACGTGTGTGTCCCTGAGTATGCCTGTAGGTGTGGGAATCCTGCAGGCATTCTGGTCCCCAGCACCCTCTTCAATGGGTTTTTTATCCTTGGGTTGTCTCTTTGCTCTGGTCCAGGGTCTGGCCTCTGGAGATTCCCTGTTGGTGGCTTGGGACTGGGGAGGCCCCTCCTGGCCCTGCCTCCTTGCTCTGGACCCCTGATTTCCTGTCCCAGGGCCCTGTTTCTCTGTCCCATTCCTCCTGTGATCCTCTCAGTCCTCCTGTTTGTTCTCCTCCCTTTCTCCTCAGGGCTCTCAAAGACTTCAGACCAGGCCTACATTGAGTTTGAGAGCATCGAGGCCATTGTGAAGACAGCCAGCCGCACCAAGTTCTTCATCGAGTTCTACTCTACCTGCCTGGAGGGTCAGAGGCGTGGCAGGGGCTGGGTGTGGGCCAAGGAGGATGGGAGGCAAGAGGGTGCAGTCAGCCCCCTACTTAGGGGGAAAGGAAGCTGAGAGGTGGTGCTCAGTTGGGTGTCTCCCACCCCCACCCCAGAATACAAGAAGAGCTTTGAGAATGATGCCCAGAGCAGTGACAACATCAACTTCCTCAAAGTGCAGTGGTCTTCACGCCAGCTGCCCACGGTGAGGCTGTGGGCAGGGCCCCTGCTTATGGGTGAGGGCACAGAGAGGGGTACATAAGAGTTTATTGGAGAGCCTGCCTGGGAGGGAGTGTGGGGCCAGCAGAGAGAGAGAGAGAGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGGGCATGGGCATGAGTGAGGATAAAGGCGTTTGCTTTATTTTGGGAGTGTGGAACCTTGTTGCAGTTTGTTCATTCATTCAGGAGATGCTTCTTGAGCTTTTGCTAGATGTCAGGTCCTGTGTTAGCTATTGAGAAAATTAATTAGTTACAGTGATGCTAGGTGCTGTAAAAGGCCTGTATAGGGCTGTGTCTTCTGCATTAAGGATTTGGCTCTTCTCTGAAGAGTTGAGTGTGAGTGAGCACAGATGACCTGAGGGTGGGGATTGAGTGGTGTCAGGGGGCAGCGCGTAGGAGGGGCAGGAGGAAGTGGCGGGGCTTTGTTCCTCACTGGGCCTCCCTGCTTCCCAGCTCAAACCAATTCTGGCTGATATCGAGTAC
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Task1_train_16269
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This sequence change occurs on Chromosome 11, altering INPPL1 (inositol polyphosphate phosphatase like 1). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Opsismodysplasia
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GACCCTGGACGAGGTCACAGTGACCATACCCCATGACATCTATGTCTTTGGGACCCAGGAGAACTCAGTGGGCGACCGCGAGTGGCTGGACCTACTGCGCGGGGGCCTCAAGGAGCTTACGGATCTGGATTACCGCCCGGTGAGGGGGGGTCATCTTGTCCAGGACCCTGTCCTCACACACCACCTCCAAACTAGCCTACTTGACTTCATGGGCAACCCTGGGAGCACAGCTTCACTGGCTTTTTCTCTGGTCCCTGAGCATATCCTTTGGGAGATCTGACCTGAGTCCTTCATGCCACGAGAGGAACCATTTCTCTCCAGTCCGTCAGGAAGAGGGGTGGCAAGCCTTCCTACCCTGTGATGGACACAAAAGTCTATTTATAGTGCAGGGGGAAATGCAGGCAGTGGGTGCAGCAGGGCAGTGGTGACCATGCACTCTCTACCCAGATTGCCATGCAATCACTGTGGAATATCAAGGTGGCAGTGCTGGTCAAGCCAGAGCACGAGAACCGTATCAGCCATGTCAGTACGTCCAGTGTGAAGACTGGCATCGCCAACACCCTGGGTAAGTGGGGCTGGCAGGTGCCCAAGAGTGGCAGCGTCTCTCTGTCCATGGCTTCTGCTTCCTCTCAAGCCTAGGATTGCCCCATTTTTGGTGATCTTAGTTTCCCCATATATAGGGTACTTTGAACTTTGAAAAACATATTCATATTCTAAATCTCTCCCAGCACCACTGGGAAGGCAAGGCCAGGATAATTACCCCCTTTTCACAGATGATAAAACTCAAACCCAGAGTGGTTGAGTGACCTGCCCAAGGTCACACAGCAAGTAAGTGGTGGAGCCAGGCATTGTGCCCAGGTCTCCTGATTTTCGGTCTGGTGCTCTCCCAGGTAGATTCTGCGCAGAATCTGCAGGGCCTTTCAGCTTCACCCTTGGGGTCCCCTGTGATCTCCAGGGGCTCTGCTCACACATACAGACAGACTCAGGCCATCCACACAGACCATGTGTGCCCAATGAGGACCCCCCCCTCCCCCAGGGAAGGTGTGGGTGTGTGCAGGGGCCTGCCCATGTCACAGCGTCTGGTGGGCTCAGCGGGAGGATCCTCTCACTGCAGCTTTGAGAGGCAGAAGGGAGAGTTGGGAGCCCTCTGAGGATGACCCAGGCCTTCCTCTCTTGCTTGCCTTAACAGGGAACAAGGGGGCTGTGGGCGTCTCCTTCATGTTTAATGGCACCTCATTTGGCTTTGTGAATTGTCACCTCACCTCGGGAAATGAGAAGACGGCTCGGTGAGGGGGCGCCTTTCCCATGGTCTCTTTACACCCATCCCATTCACCTGAGGCCTGTTCCCGCTCCCATACCCTAGCCCATGACCCTCCCGCAGGCCTGTCTCCAGAGACCCCCTGCTCTCTTATCCCAATTCAAGACCCTTCTGTTCCTGACCCTAACCTTGTCCCCAGGGGCCCGGATCTTTACCCCATCCCTGACTCCTGAGACTTCTTCCCTTTATGCCTATCCCTGACTTCTGGCCCTGACCCTGGGGATCTACCCCTCCCCACCACGCACCCCTCACCCTAGGAGGAACCAAAACTACTTGGACATCCTGCGGCTGCTCTCGCTGGGCGACCGGCAGCTCAATGCCTTTGACATCTCTCTGCGTTTCACACACCTCTTCTGGTTTGGGGACCTCAACTACCGCCTGGACATGGATATCCAGGTGCGAGCAGGGCCCTGCCATGGCTGTAGGGAGGCTAAGGGCCACATGGGCTATCACCCCTGGCTCTGGCTCCGGAGGAATGTTTCTAGCCTTTGTGTCCTCCACCCCAGGAGATCCTGAACTACATCAGCAGGAAAGAGTTTGAGCCCCTCCTCAGGGTGGACCAGCTCAACCTGGAGCGGGAGAAGCACAAGGTCTTCCTTCGATTCAGTGAGTGTGGGCCTGGTAGGTGGTGATCTGAGGGCTAGGAGACTTGCAGTATCCCTGGGTGTCAGGGCCCTGAACCCCACCTGTCTCCTGCTTTCCTTAGGTGAGGAGGAGATCTCCTTCCCACCCACCTACCGCTATGAGCGGGGTTCCCGGGACACATATGCCTGGCACAAGCAGAAGCCAACTGGGGTGAGCCAAGAAAACGGCATGGGCCTTGGGGGACCGCAGGCCTGCGATGAATCAAGAATTTGGGTCAAGGGTATGGGCCTCTGCAGCTTCCACTCCAGCCTCCATGGCCCCTCTGAGGCCTTTGGGTGATCCTGGGTATTTTGAGGATCCAAGAAGGGAGGTGGGTGCTAGGGCCTCTAGTAATAGAAGTGTGGGGACTCATCAGCTCTGGAGTGGGGTCCATGCCAAGCAGCCTCCTAGCTGTCAGCTCTAACCATGCTGCCATCCCCTGCCCCAGGTCCGGACCAATGTGCCCTCATGGTGTGACCGGATTCTGTGGAAATCCTACCCTGAAACTCACATCATCTGCAATTCTTATGGTCAGAGCCTCCCGGACAGAGTGATGGGAGATCTGGGGTGGTCACCATCTGGACTCTGCCCTAACCTTGGGAGGTGGGAGCCGAGGGTGGGAATATTCCCCCTGAGTCCCCATTCCTATCCCCTCTCCCCAGGTTGCACTGATGACATCGTCACCAGCGACCATTCCCCCGTGTTTGGGACATTTGAGGTTGGAGTTACCTCCCAGTTCATCTCCAAGAAAGGTGACTGTTCCAGATATGCTTGTGGGTGTGGCATAATCTAGGTGGGCACAGGTGGTGGCCTCGGGATGTACATAGGTTTGACTATGTAAGTGTGTGTGTGGGTGTGTGTACCAGTGAGTGCAGGAGTGTTTCTCAAGGTGTGATGTGTCAGGGTGTCTGTGCGCCTGGGCCATCACAAGAGTTGTGTGCCCATGAGTGTGTGTGCATACGTGAGTGTACACCTATCTATGTGTCTGTGTCTGTCTAGGGCCACGTGTGTGTCCCTGAGTATGCCTGTAGGTGTGGGAATCCTGCAGGCATTCTGGTCCCCAGCACCCTCTTCAATGGGTTTTTTATCCTTGGGTTGTCTCTTTGCTCTGGTCCAGGGTCTGGCCTCTGGAGATTCCCTGTTGGTGGCTTGGGACTGGGGAGGCCCCTCCTGGCCCTGCCTCCTTGCTCTGGACCCCTGATTTCCTGTCCCAGGGCCCTGTTTCTCTGTCCCATTCCTCCTGTGATCCTCTCAGTCCTCCTGTTTGTTCTCCTCCCTTTCTCCTCAGGGCTCTCAAAGACTTCAGACCAGGCCTACATTGAGTTTGAGAGCATCGAGGCCATTGTGAAGACAGCCAGCCGCACCAAGTTCTTCATCGAGTTCTACTCTACCTGCCTGGAGGGTCAGAGGCGTGGCAGGGGCTGGGTGTGGGCCAAGGAGGATGGGAGGCAAGAGGGTGCAGTCAGCCCCCTACTTAGGGGGAAAGGAAGCTGAGAGGTGGTGCTCAGTTGGGTGTCTCCCACCCCCACCCCAGAATACAAGAAGAGCTTTGAGAATGATGCCCAGAGCAGTGACAACATCAACTTCCTCAAAGTGCAGTGGTCTTCACGCCAGCTGCCCACGGTGAGGCTGTGGGCAGGGCCCCTGCTTATGGGTGAGGGCACAGAGAGGGGTACATAAGAGTTTATTGGAGAGCCTGCCTGGGAGGGAGTGTGGGGCCAGCAGAGAGAGAGAGAGAGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGGGCATGGGCATGAGTGAGGATAAAGGCGTTTGCTTTATTTTGGGAGTGTGGAACCTTGTTGCAGTTTGTTCATTCATTCAGGAGATGCTTCTTGAGCTTTTGCTAGATGTCAGGTCCTGTGTTAGCTATTGAGAAAATTAATTAGTTACAGTGATGCTAGGTGCTGTAAAAGGCCTGTATAGGGCTGTGTCTTCTGCATTAAGGATTTGGCTCTTCTCTGAAGAGTTGAGTGTGAGTGAGCACAGATGACCTGAGGGTGGGGATTGAGTGGTGTCAGGGGGCAGCGCGTAGGAGGGGCAGGAGGAAGTGGCGGGGCTTTGTTCCTCACTGGGCCTCCCTGCTTCCCAGCTCAAACCAATTCTGGCTGATATCGAGTACC
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GACCCTGGACGAGGTCACAGTGACCATACCCCATGACATCTATGTCTTTGGGACCCAGGAGAACTCAGTGGGCGACCGCGAGTGGCTGGACCTACTGCGCGGGGGCCTCAAGGAGCTTACGGATCTGGATTACCGCCCGGTGAGGGGGGGTCATCTTGTCCAGGACCCTGTCCTCACACACCACCTCCAAACTAGCCTACTTGACTTCATGGGCAACCCTGGGAGCACAGCTTCACTGGCTTTTTCTCTGGTCCCTGAGCATATCCTTTGGGAGATCTGACCTGAGTCCTTCATGCCACGAGAGGAACCATTTCTCTCCAGTCCGTCAGGAAGAGGGGTGGCAAGCCTTCCTACCCTGTGATGGACACAAAAGTCTATTTATAGTGCAGGGGGAAATGCAGGCAGTGGGTGCAGCAGGGCAGTGGTGACCATGCACTCTCTACCCAGATTGCCATGCAATCACTGTGGAATATCAAGGTGGCAGTGCTGGTCAAGCCAGAGCACGAGAACCGTATCAGCCATGTCAGTACGTCCAGTGTGAAGACTGGCATCGCCAACACCCTGGGTAAGTGGGGCTGGCAGGTGCCCAAGAGTGGCAGCGTCTCTCTGTCCATGGCTTCTGCTTCCTCTCAAGCCTAGGATTGCCCCATTTTTGGTGATCTTAGTTTCCCCATATATAGGGTACTTTGAACTTTGAAAAACATATTCATATTCTAAATCTCTCCCAGCACCACTGGGAAGGCAAGGCCAGGATAATTACCCCCTTTTCACAGATGATAAAACTCAAACCCAGAGTGGTTGAGTGACCTGCCCAAGGTCACACAGCAAGTAAGTGGTGGAGCCAGGCATTGTGCCCAGGTCTCCTGATTTTCGGTCTGGTGCTCTCCCAGGTAGATTCTGCGCAGAATCTGCAGGGCCTTTCAGCTTCACCCTTGGGGTCCCCTGTGATCTCCAGGGGCTCTGCTCACACATACAGACAGACTCAGGCCATCCACACAGACCATGTGTGCCCAATGAGGACCCCCCCCTCCCCCAGGGAAGGTGTGGGTGTGTGCAGGGGCCTGCCCATGTCACAGCGTCTGGTGGGCTCAGCGGGAGGATCCTCTCACTGCAGCTTTGAGAGGCAGAAGGGAGAGTTGGGAGCCCTCTGAGGATGACCCAGGCCTTCCTCTCTTGCTTGCCTTAACAGGGAACAAGGGGGCTGTGGGCGTCTCCTTCATGTTTAATGGCACCTCATTTGGCTTTGTGAATTGTCACCTCACCTCGGGAAATGAGAAGACGGCTCGGTGAGGGGGCGCCTTTCCCATGGTCTCTTTACACCCATCCCATTCACCTGAGGCCTGTTCCCGCTCCCATACCCTAGCCCATGACCCTCCCGCAGGCCTGTCTCCAGAGACCCCCTGCTCTCTTATCCCAATTCAAGACCCTTCTGTTCCTGACCCTAACCTTGTCCCCAGGGGCCCGGATCTTTACCCCATCCCTGACTCCTGAGACTTCTTCCCTTTATGCCTATCCCTGACTTCTGGCCCTGACCCTGGGGATCTACCCCTCCCCACCACGCACCCCTCACCCTAGGAGGAACCAAAACTACTTGGACATCCTGCGGCTGCTCTCGCTGGGCGACCGGCAGCTCAATGCCTTTGACATCTCTCTGCGTTTCACACACCTCTTCTGGTTTGGGGACCTCAACTACCGCCTGGACATGGATATCCAGGTGCGAGCAGGGCCCTGCCATGGCTGTAGGGAGGCTAAGGGCCACATGGGCTATCACCCCTGGCTCTGGCTCCGGAGGAATGTTTCTAGCCTTTGTGTCCTCCACCCCAGGAGATCCTGAACTACATCAGCAGGAAAGAGTTTGAGCCCCTCCTCAGGGTGGACCAGCTCAACCTGGAGCGGGAGAAGCACAAGGTCTTCCTTCGATTCAGTGAGTGTGGGCCTGGTAGGTGGTGATCTGAGGGCTAGGAGACTTGCAGTATCCCTGGGTGTCAGGGCCCTGAACCCCACCTGTCTCCTGCTTTCCTTAGGTGAGGAGGAGATCTCCTTCCCACTCACCTACCGCTATGAGCGGGGTTCCCGGGACACATATGCCTGGCACAAGCAGAAGCCAACTGGGGTGAGCCAAGAAAACGGCATGGGCCTTGGGGGACCGCAGGCCTGCGATGAATCAAGAATTTGGGTCAAGGGTATGGGCCTCTGCAGCTTCCACTCCAGCCTCCATGGCCCCTCTGAGGCCTTTGGGTGATCCTGGGTATTTTGAGGATCCAAGAAGGGAGGTGGGTGCTAGGGCCTCTAGTAATAGAAGTGTGGGGACTCATCAGCTCTGGAGTGGGGTCCATGCCAAGCAGCCTCCTAGCTGTCAGCTCTAACCATGCTGCCATCCCCTGCCCCAGGTCCGGACCAATGTGCCCTCATGGTGTGACCGGATTCTGTGGAAATCCTACCCTGAAACTCACATCATCTGCAATTCTTATGGTCAGAGCCTCCCGGACAGAGTGATGGGAGATCTGGGGTGGTCACCATCTGGACTCTGCCCTAACCTTGGGAGGTGGGAGCCGAGGGTGGGAATATTCCCCCTGAGTCCCCATTCCTATCCCCTCTCCCCAGGTTGCACTGATGACATCGTCACCAGCGACCATTCCCCCGTGTTTGGGACATTTGAGGTTGGAGTTACCTCCCAGTTCATCTCCAAGAAAGGTGACTGTTCCAGATATGCTTGTGGGTGTGGCATAATCTAGGTGGGCACAGGTGGTGGCCTCGGGATGTACATAGGTTTGACTATGTAAGTGTGTGTGTGGGTGTGTGTACCAGTGAGTGCAGGAGTGTTTCTCAAGGTGTGATGTGTCAGGGTGTCTGTGCGCCTGGGCCATCACAAGAGTTGTGTGCCCATGAGTGTGTGTGCATACGTGAGTGTACACCTATCTATGTGTCTGTGTCTGTCTAGGGCCACGTGTGTGTCCCTGAGTATGCCTGTAGGTGTGGGAATCCTGCAGGCATTCTGGTCCCCAGCACCCTCTTCAATGGGTTTTTTATCCTTGGGTTGTCTCTTTGCTCTGGTCCAGGGTCTGGCCTCTGGAGATTCCCTGTTGGTGGCTTGGGACTGGGGAGGCCCCTCCTGGCCCTGCCTCCTTGCTCTGGACCCCTGATTTCCTGTCCCAGGGCCCTGTTTCTCTGTCCCATTCCTCCTGTGATCCTCTCAGTCCTCCTGTTTGTTCTCCTCCCTTTCTCCTCAGGGCTCTCAAAGACTTCAGACCAGGCCTACATTGAGTTTGAGAGCATCGAGGCCATTGTGAAGACAGCCAGCCGCACCAAGTTCTTCATCGAGTTCTACTCTACCTGCCTGGAGGGTCAGAGGCGTGGCAGGGGCTGGGTGTGGGCCAAGGAGGATGGGAGGCAAGAGGGTGCAGTCAGCCCCCTACTTAGGGGGAAAGGAAGCTGAGAGGTGGTGCTCAGTTGGGTGTCTCCCACCCCCACCCCAGAATACAAGAAGAGCTTTGAGAATGATGCCCAGAGCAGTGACAACATCAACTTCCTCAAAGTGCAGTGGTCTTCACGCCAGCTGCCCACGGTGAGGCTGTGGGCAGGGCCCCTGCTTATGGGTGAGGGCACAGAGAGGGGTACATAAGAGTTTATTGGAGAGCCTGCCTGGGAGGGAGTGTGGGGCCAGCAGAGAGAGAGAGAGAGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGGGCATGGGCATGAGTGAGGATAAAGGCGTTTGCTTTATTTTGGGAGTGTGGAACCTTGTTGCAGTTTGTTCATTCATTCAGGAGATGCTTCTTGAGCTTTTGCTAGATGTCAGGTCCTGTGTTAGCTATTGAGAAAATTAATTAGTTACAGTGATGCTAGGTGCTGTAAAAGGCCTGTATAGGGCTGTGTCTTCTGCATTAAGGATTTGGCTCTTCTCTGAAGAGTTGAGTGTGAGTGAGCACAGATGACCTGAGGGTGGGGATTGAGTGGTGTCAGGGGGCAGCGCGTAGGAGGGGCAGGAGGAAGTGGCGGGGCTTTGTTCCTCACTGGGCCTCCCTGCTTCCCAGCTCAAACCAATTCTGGCTGATATCGAGTACC
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Task1_train_16270
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The gene INPPL1 (inositol polyphosphate phosphatase like 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; Opsismodysplasia
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GTCTATTTATAGTGCAGGGGGAAATGCAGGCAGTGGGTGCAGCAGGGCAGTGGTGACCATGCACTCTCTACCCAGATTGCCATGCAATCACTGTGGAATATCAAGGTGGCAGTGCTGGTCAAGCCAGAGCACGAGAACCGTATCAGCCATGTCAGTACGTCCAGTGTGAAGACTGGCATCGCCAACACCCTGGGTAAGTGGGGCTGGCAGGTGCCCAAGAGTGGCAGCGTCTCTCTGTCCATGGCTTCTGCTTCCTCTCAAGCCTAGGATTGCCCCATTTTTGGTGATCTTAGTTTCCCCATATATAGGGTACTTTGAACTTTGAAAAACATATTCATATTCTAAATCTCTCCCAGCACCACTGGGAAGGCAAGGCCAGGATAATTACCCCCTTTTCACAGATGATAAAACTCAAACCCAGAGTGGTTGAGTGACCTGCCCAAGGTCACACAGCAAGTAAGTGGTGGAGCCAGGCATTGTGCCCAGGTCTCCTGATTTTCGGTCTGGTGCTCTCCCAGGTAGATTCTGCGCAGAATCTGCAGGGCCTTTCAGCTTCACCCTTGGGGTCCCCTGTGATCTCCAGGGGCTCTGCTCACACATACAGACAGACTCAGGCCATCCACACAGACCATGTGTGCCCAATGAGGACCCCCCCCTCCCCCAGGGAAGGTGTGGGTGTGTGCAGGGGCCTGCCCATGTCACAGCGTCTGGTGGGCTCAGCGGGAGGATCCTCTCACTGCAGCTTTGAGAGGCAGAAGGGAGAGTTGGGAGCCCTCTGAGGATGACCCAGGCCTTCCTCTCTTGCTTGCCTTAACAGGGAACAAGGGGGCTGTGGGCGTCTCCTTCATGTTTAATGGCACCTCATTTGGCTTTGTGAATTGTCACCTCACCTCGGGAAATGAGAAGACGGCTCGGTGAGGGGGCGCCTTTCCCATGGTCTCTTTACACCCATCCCATTCACCTGAGGCCTGTTCCCGCTCCCATACCCTAGCCCATGACCCTCCCGCAGGCCTGTCTCCAGAGACCCCCTGCTCTCTTATCCCAATTCAAGACCCTTCTGTTCCTGACCCTAACCTTGTCCCCAGGGGCCCGGATCTTTACCCCATCCCTGACTCCTGAGACTTCTTCCCTTTATGCCTATCCCTGACTTCTGGCCCTGACCCTGGGGATCTACCCCTCCCCACCACGCACCCCTCACCCTAGGAGGAACCAAAACTACTTGGACATCCTGCGGCTGCTCTCGCTGGGCGACCGGCAGCTCAATGCCTTTGACATCTCTCTGCGTTTCACACACCTCTTCTGGTTTGGGGACCTCAACTACCGCCTGGACATGGATATCCAGGTGCGAGCAGGGCCCTGCCATGGCTGTAGGGAGGCTAAGGGCCACATGGGCTATCACCCCTGGCTCTGGCTCCGGAGGAATGTTTCTAGCCTTTGTGTCCTCCACCCCAGGAGATCCTGAACTACATCAGCAGGAAAGAGTTTGAGCCCCTCCTCAGGGTGGACCAGCTCAACCTGGAGCGGGAGAAGCACAAGGTCTTCCTTCGATTCAGTGAGTGTGGGCCTGGTAGGTGGTGATCTGAGGGCTAGGAGACTTGCAGTATCCCTGGGTGTCAGGGCCCTGAACCCCACCTGTCTCCTGCTTTCCTTAGGTGAGGAGGAGATCTCCTTCCCACCCACCTACCGCTATGAGCGGGGTTCCCGGGACACATATGCCTGGCACAAGCAGAAGCCAACTGGGGTGAGCCAAGAAAACGGCATGGGCCTTGGGGGACCGCAGGCCTGCGATGAATCAAGAATTTGGGTCAAGGGTATGGGCCTCTGCAGCTTCCACTCCAGCCTCCATGGCCCCTCTGAGGCCTTTGGGTGATCCTGGGTATTTTGAGGATCCAAGAAGGGAGGTGGGTGCTAGGGCCTCTAGTAATAGAAGTGTGGGGACTCATCAGCTCTGGAGTGGGGTCCATGCCAAGCAGCCTCCTAGCTGTCAGCTCTAACCATGCTGCCATCCCCTGCCCCAGGTCCGGACCAATGTGCCCTCATGGTGTGACCGGATTCTGTGGAAATCCTACCCTGAAACTCACATCATCTGCAATTCTTATGGTCAGAGCCTCCCGGACAGAGTGATGGGAGATCTGGGGTGGTCACCATCTGGACTCTGCCCTAACCTTGGGAGGTGGGAGCCGAGGGTGGGAATATTCCCCCTGAGTCCCCATTCCTATCCCCTCTCCCCAGGTTGCACTGATGACATCGTCACCAGCGACCATTCCCCCGTGTTTGGGACATTTGAGGTTGGAGTTACCTCCCAGTTCATCTCCAAGAAAGGTGACTGTTCCAGATATGCTTGTGGGTGTGGCATAATCTAGGTGGGCACAGGTGGTGGCCTCGGGATGTACATAGGTTTGACTATGTAAGTGTGTGTGTGGGTGTGTGTACCAGTGAGTGCAGGAGTGTTTCTCAAGGTGTGATGTGTCAGGGTGTCTGTGCGCCTGGGCCATCACAAGAGTTGTGTGCCCATGAGTGTGTGTGCATACGTGAGTGTACACCTATCTATGTGTCTGTGTCTGTCTAGGGCCACGTGTGTGTCCCTGAGTATGCCTGTAGGTGTGGGAATCCTGCAGGCATTCTGGTCCCCAGCACCCTCTTCAATGGGTTTTTTATCCTTGGGTTGTCTCTTTGCTCTGGTCCAGGGTCTGGCCTCTGGAGATTCCCTGTTGGTGGCTTGGGACTGGGGAGGCCCCTCCTGGCCCTGCCTCCTTGCTCTGGACCCCTGATTTCCTGTCCCAGGGCCCTGTTTCTCTGTCCCATTCCTCCTGTGATCCTCTCAGTCCTCCTGTTTGTTCTCCTCCCTTTCTCCTCAGGGCTCTCAAAGACTTCAGACCAGGCCTACATTGAGTTTGAGAGCATCGAGGCCATTGTGAAGACAGCCAGCCGCACCAAGTTCTTCATCGAGTTCTACTCTACCTGCCTGGAGGGTCAGAGGCGTGGCAGGGGCTGGGTGTGGGCCAAGGAGGATGGGAGGCAAGAGGGTGCAGTCAGCCCCCTACTTAGGGGGAAAGGAAGCTGAGAGGTGGTGCTCAGTTGGGTGTCTCCCACCCCCACCCCAGAATACAAGAAGAGCTTTGAGAATGATGCCCAGAGCAGTGACAACATCAACTTCCTCAAAGTGCAGTGGTCTTCACGCCAGCTGCCCACGGTGAGGCTGTGGGCAGGGCCCCTGCTTATGGGTGAGGGCACAGAGAGGGGTACATAAGAGTTTATTGGAGAGCCTGCCTGGGAGGGAGTGTGGGGCCAGCAGAGAGAGAGAGAGAGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGGGCATGGGCATGAGTGAGGATAAAGGCGTTTGCTTTATTTTGGGAGTGTGGAACCTTGTTGCAGTTTGTTCATTCATTCAGGAGATGCTTCTTGAGCTTTTGCTAGATGTCAGGTCCTGTGTTAGCTATTGAGAAAATTAATTAGTTACAGTGATGCTAGGTGCTGTAAAAGGCCTGTATAGGGCTGTGTCTTCTGCATTAAGGATTTGGCTCTTCTCTGAAGAGTTGAGTGTGAGTGAGCACAGATGACCTGAGGGTGGGGATTGAGTGGTGTCAGGGGGCAGCGCGTAGGAGGGGCAGGAGGAAGTGGCGGGGCTTTGTTCCTCACTGGGCCTCCCTGCTTCCCAGCTCAAACCAATTCTGGCTGATATCGAGTACCTGCAGGACCAGCACCTCCTGCTCACAGTCAAGTCCATGGATGGCTATGAATCCTATGGTGAGGGGTGAGGGGTGCTGAGGGGAACAGGAAGCCAGACAGGGCCCTAGATTAGCTTGGTAATTTGCTGGTTTGTCCCATCTGCTCCTCAGGGGAGTGTGTGGTTGCACTCAAATCCATGATCGGCAGCACGGCCCAACAGTTCCTGACCTTCCTATCCCACCGTGGCGAGGAGACAGGCAATATCAGAGGCTCCATGAAGGTGCGGGTGCCCACGGAGCGCCTGGGCACCCGTGAGCGGCTCTACGGTGGGGACTCCACTGGGACATGAGATAGGGTGGTGTGAACAGATCAAGGAGGGCAGGGTGCGGGGGG
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GTCTATTTATAGTGCAGGGGGAAATGCAGGCAGTGGGTGCAGCAGGGCAGTGGTGACCATGCACTCTCTACCCAGATTGCCATGCAATCACTGTGGAATATCAAGGTGGCAGTGCTGGTCAAGCCAGAGCACGAGAACCGTATCAGCCATGTCAGTACGTCCAGTGTGAAGACTGGCATCGCCAACACCCTGGGTAAGTGGGGCTGGCAGGTGCCCAAGAGTGGCAGCGTCTCTCTGTCCATGGCTTCTGCTTCCTCTCAAGCCTAGGATTGCCCCATTTTTGGTGATCTTAGTTTCCCCATATATAGGGTACTTTGAACTTTGAAAAACATATTCATATTCTAAATCTCTCCCAGCACCACTGGGAAGGCAAGGCCAGGATAATTACCCCCTTTTCACAGATGATAAAACTCAAACCCAGAGTGGTTGAGTGACCTGCCCAAGGTCACACAGCAAGTAAGTGGTGGAGCCAGGCATTGTGCCCAGGTCTCCTGATTTTCGGTCTGGTGCTCTCCCAGGTAGATTCTGCGCAGAATCTGCAGGGCCTTTCAGCTTCACCCTTGGGGTCCCCTGTGATCTCCAGGGGCTCTGCTCACACATACAGACAGACTCAGGCCATCCACACAGACCATGTGTGCCCAATGAGGACCCCCCCCTCCCCCAGGGAAGGTGTGGGTGTGTGCAGGGGCCTGCCCATGTCACAGCGTCTGGTGGGCTCAGCGGGAGGATCCTCTCACTGCAGCTTTGAGAGGCAGAAGGGAGAGTTGGGAGCCCTCTGAGGATGACCCAGGCCTTCCTCTCTTGCTTGCCTTAACAGGGAACAAGGGGGCTGTGGGCGTCTCCTTCATGTTTAATGGCACCTCATTTGGCTTTGTGAATTGTCACCTCACCTCGGGAAATGAGAAGACGGCTCGGTGAGGGGGCGCCTTTCCCATGGTCTCTTTACACCCATCCCATTCACCTGAGGCCTGTTCCCGCTCCCATACCCTAGCCCATGACCCTCCCGCAGGCCTGTCTCCAGAGACCCCCTGCTCTCTTATCCCAATTCAAGACCCTTCTGTTCCTGACCCTAACCTTGTCCCCAGGGGCCCGGATCTTTACCCCATCCCTGACTCCTGAGACTTCTTCCCTTTATGCCTATCCCTGACTTCTGGCCCTGACCCTGGGGATCTACCCCTCCCCACCACGCACCCCTCACCCTAGGAGGAACCAAAACTACTTGGACATCCTGCGGCTGCTCTCGCTGGGCGACCGGCAGCTCAATGCCTTTGACATCTCTCTGCGTTTCACACACCTCTTCTGGTTTGGGGACCTCAACTACCGCCTGGACATGGATATCCAGGTGCGAGCAGGGCCCTGCCATGGCTGTAGGGAGGCTAAGGGCCACATGGGCTATCACCCCTGGCTCTGGCTCCGGAGGAATGTTTCTAGCCTTTGTGTCCTCCACCCCAGGAGATCCTGAACTACATCAGCAGGAAAGAGTTTGAGCCCCTCCTCAGGGTGGACCAGCTCAACCTGGAGCGGGAGAAGCACAAGGTCTTCCTTCGATTCAGTGAGTGTGGGCCTGGTAGGTGGTGATCTGAGGGCTAGGAGACTTGCAGTATCCCTGGGTGTCAGGGCCCTGAACCCCACCTGTCTCCTGCTTTCCTTAGGTGAGGAGGAGATCTCCTTCCCACCCACCTACCGCTATGAGCGGGGTTCCCGGGACACATATGCCTGGCACAAGCAGAAGCCAACTGGGGTGAGCCAAGAAAACGGCATGGGCCTTGGGGGACCGCAGGCCTGCGATGAATCAAGAATTTGGGTCAAGGGTATGGGCCTCTGCAGCTTCCACTCCAGCCTCCATGGCCCCTCTGAGGCCTTTGGGTGATCCTGGGTATTTTGAGGATCCAAGAAGGGAGGTGGGTGCTAGGGCCTCTAGTAATAGAAGTGTGGGGACTCATCAGCTCTGGAGTGGGGTCCATGCCAAGCAGCCTCCTAGCTGTCAGCTCTAACCATGCTGCCATCCCCTGCCCCAGGTCCGGACCAATGTGCCCTCATGGTGTGACTGGATTCTGTGGAAATCCTACCCTGAAACTCACATCATCTGCAATTCTTATGGTCAGAGCCTCCCGGACAGAGTGATGGGAGATCTGGGGTGGTCACCATCTGGACTCTGCCCTAACCTTGGGAGGTGGGAGCCGAGGGTGGGAATATTCCCCCTGAGTCCCCATTCCTATCCCCTCTCCCCAGGTTGCACTGATGACATCGTCACCAGCGACCATTCCCCCGTGTTTGGGACATTTGAGGTTGGAGTTACCTCCCAGTTCATCTCCAAGAAAGGTGACTGTTCCAGATATGCTTGTGGGTGTGGCATAATCTAGGTGGGCACAGGTGGTGGCCTCGGGATGTACATAGGTTTGACTATGTAAGTGTGTGTGTGGGTGTGTGTACCAGTGAGTGCAGGAGTGTTTCTCAAGGTGTGATGTGTCAGGGTGTCTGTGCGCCTGGGCCATCACAAGAGTTGTGTGCCCATGAGTGTGTGTGCATACGTGAGTGTACACCTATCTATGTGTCTGTGTCTGTCTAGGGCCACGTGTGTGTCCCTGAGTATGCCTGTAGGTGTGGGAATCCTGCAGGCATTCTGGTCCCCAGCACCCTCTTCAATGGGTTTTTTATCCTTGGGTTGTCTCTTTGCTCTGGTCCAGGGTCTGGCCTCTGGAGATTCCCTGTTGGTGGCTTGGGACTGGGGAGGCCCCTCCTGGCCCTGCCTCCTTGCTCTGGACCCCTGATTTCCTGTCCCAGGGCCCTGTTTCTCTGTCCCATTCCTCCTGTGATCCTCTCAGTCCTCCTGTTTGTTCTCCTCCCTTTCTCCTCAGGGCTCTCAAAGACTTCAGACCAGGCCTACATTGAGTTTGAGAGCATCGAGGCCATTGTGAAGACAGCCAGCCGCACCAAGTTCTTCATCGAGTTCTACTCTACCTGCCTGGAGGGTCAGAGGCGTGGCAGGGGCTGGGTGTGGGCCAAGGAGGATGGGAGGCAAGAGGGTGCAGTCAGCCCCCTACTTAGGGGGAAAGGAAGCTGAGAGGTGGTGCTCAGTTGGGTGTCTCCCACCCCCACCCCAGAATACAAGAAGAGCTTTGAGAATGATGCCCAGAGCAGTGACAACATCAACTTCCTCAAAGTGCAGTGGTCTTCACGCCAGCTGCCCACGGTGAGGCTGTGGGCAGGGCCCCTGCTTATGGGTGAGGGCACAGAGAGGGGTACATAAGAGTTTATTGGAGAGCCTGCCTGGGAGGGAGTGTGGGGCCAGCAGAGAGAGAGAGAGAGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGGGCATGGGCATGAGTGAGGATAAAGGCGTTTGCTTTATTTTGGGAGTGTGGAACCTTGTTGCAGTTTGTTCATTCATTCAGGAGATGCTTCTTGAGCTTTTGCTAGATGTCAGGTCCTGTGTTAGCTATTGAGAAAATTAATTAGTTACAGTGATGCTAGGTGCTGTAAAAGGCCTGTATAGGGCTGTGTCTTCTGCATTAAGGATTTGGCTCTTCTCTGAAGAGTTGAGTGTGAGTGAGCACAGATGACCTGAGGGTGGGGATTGAGTGGTGTCAGGGGGCAGCGCGTAGGAGGGGCAGGAGGAAGTGGCGGGGCTTTGTTCCTCACTGGGCCTCCCTGCTTCCCAGCTCAAACCAATTCTGGCTGATATCGAGTACCTGCAGGACCAGCACCTCCTGCTCACAGTCAAGTCCATGGATGGCTATGAATCCTATGGTGAGGGGTGAGGGGTGCTGAGGGGAACAGGAAGCCAGACAGGGCCCTAGATTAGCTTGGTAATTTGCTGGTTTGTCCCATCTGCTCCTCAGGGGAGTGTGTGGTTGCACTCAAATCCATGATCGGCAGCACGGCCCAACAGTTCCTGACCTTCCTATCCCACCGTGGCGAGGAGACAGGCAATATCAGAGGCTCCATGAAGGTGCGGGTGCCCACGGAGCGCCTGGGCACCCGTGAGCGGCTCTACGGTGGGGACTCCACTGGGACATGAGATAGGGTGGTGTGAACAGATCAAGGAGGGCAGGGTGCGGGGGG
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Task1_train_16271
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Here is a variant affecting INPPL1 (inositol polyphosphate phosphatase like 1) on Chromosome 11. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Opsismodysplasia
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AGCGTCTCTCTGTCCATGGCTTCTGCTTCCTCTCAAGCCTAGGATTGCCCCATTTTTGGTGATCTTAGTTTCCCCATATATAGGGTACTTTGAACTTTGAAAAACATATTCATATTCTAAATCTCTCCCAGCACCACTGGGAAGGCAAGGCCAGGATAATTACCCCCTTTTCACAGATGATAAAACTCAAACCCAGAGTGGTTGAGTGACCTGCCCAAGGTCACACAGCAAGTAAGTGGTGGAGCCAGGCATTGTGCCCAGGTCTCCTGATTTTCGGTCTGGTGCTCTCCCAGGTAGATTCTGCGCAGAATCTGCAGGGCCTTTCAGCTTCACCCTTGGGGTCCCCTGTGATCTCCAGGGGCTCTGCTCACACATACAGACAGACTCAGGCCATCCACACAGACCATGTGTGCCCAATGAGGACCCCCCCCTCCCCCAGGGAAGGTGTGGGTGTGTGCAGGGGCCTGCCCATGTCACAGCGTCTGGTGGGCTCAGCGGGAGGATCCTCTCACTGCAGCTTTGAGAGGCAGAAGGGAGAGTTGGGAGCCCTCTGAGGATGACCCAGGCCTTCCTCTCTTGCTTGCCTTAACAGGGAACAAGGGGGCTGTGGGCGTCTCCTTCATGTTTAATGGCACCTCATTTGGCTTTGTGAATTGTCACCTCACCTCGGGAAATGAGAAGACGGCTCGGTGAGGGGGCGCCTTTCCCATGGTCTCTTTACACCCATCCCATTCACCTGAGGCCTGTTCCCGCTCCCATACCCTAGCCCATGACCCTCCCGCAGGCCTGTCTCCAGAGACCCCCTGCTCTCTTATCCCAATTCAAGACCCTTCTGTTCCTGACCCTAACCTTGTCCCCAGGGGCCCGGATCTTTACCCCATCCCTGACTCCTGAGACTTCTTCCCTTTATGCCTATCCCTGACTTCTGGCCCTGACCCTGGGGATCTACCCCTCCCCACCACGCACCCCTCACCCTAGGAGGAACCAAAACTACTTGGACATCCTGCGGCTGCTCTCGCTGGGCGACCGGCAGCTCAATGCCTTTGACATCTCTCTGCGTTTCACACACCTCTTCTGGTTTGGGGACCTCAACTACCGCCTGGACATGGATATCCAGGTGCGAGCAGGGCCCTGCCATGGCTGTAGGGAGGCTAAGGGCCACATGGGCTATCACCCCTGGCTCTGGCTCCGGAGGAATGTTTCTAGCCTTTGTGTCCTCCACCCCAGGAGATCCTGAACTACATCAGCAGGAAAGAGTTTGAGCCCCTCCTCAGGGTGGACCAGCTCAACCTGGAGCGGGAGAAGCACAAGGTCTTCCTTCGATTCAGTGAGTGTGGGCCTGGTAGGTGGTGATCTGAGGGCTAGGAGACTTGCAGTATCCCTGGGTGTCAGGGCCCTGAACCCCACCTGTCTCCTGCTTTCCTTAGGTGAGGAGGAGATCTCCTTCCCACCCACCTACCGCTATGAGCGGGGTTCCCGGGACACATATGCCTGGCACAAGCAGAAGCCAACTGGGGTGAGCCAAGAAAACGGCATGGGCCTTGGGGGACCGCAGGCCTGCGATGAATCAAGAATTTGGGTCAAGGGTATGGGCCTCTGCAGCTTCCACTCCAGCCTCCATGGCCCCTCTGAGGCCTTTGGGTGATCCTGGGTATTTTGAGGATCCAAGAAGGGAGGTGGGTGCTAGGGCCTCTAGTAATAGAAGTGTGGGGACTCATCAGCTCTGGAGTGGGGTCCATGCCAAGCAGCCTCCTAGCTGTCAGCTCTAACCATGCTGCCATCCCCTGCCCCAGGTCCGGACCAATGTGCCCTCATGGTGTGACCGGATTCTGTGGAAATCCTACCCTGAAACTCACATCATCTGCAATTCTTATGGTCAGAGCCTCCCGGACAGAGTGATGGGAGATCTGGGGTGGTCACCATCTGGACTCTGCCCTAACCTTGGGAGGTGGGAGCCGAGGGTGGGAATATTCCCCCTGAGTCCCCATTCCTATCCCCTCTCCCCAGGTTGCACTGATGACATCGTCACCAGCGACCATTCCCCCGTGTTTGGGACATTTGAGGTTGGAGTTACCTCCCAGTTCATCTCCAAGAAAGGTGACTGTTCCAGATATGCTTGTGGGTGTGGCATAATCTAGGTGGGCACAGGTGGTGGCCTCGGGATGTACATAGGTTTGACTATGTAAGTGTGTGTGTGGGTGTGTGTACCAGTGAGTGCAGGAGTGTTTCTCAAGGTGTGATGTGTCAGGGTGTCTGTGCGCCTGGGCCATCACAAGAGTTGTGTGCCCATGAGTGTGTGTGCATACGTGAGTGTACACCTATCTATGTGTCTGTGTCTGTCTAGGGCCACGTGTGTGTCCCTGAGTATGCCTGTAGGTGTGGGAATCCTGCAGGCATTCTGGTCCCCAGCACCCTCTTCAATGGGTTTTTTATCCTTGGGTTGTCTCTTTGCTCTGGTCCAGGGTCTGGCCTCTGGAGATTCCCTGTTGGTGGCTTGGGACTGGGGAGGCCCCTCCTGGCCCTGCCTCCTTGCTCTGGACCCCTGATTTCCTGTCCCAGGGCCCTGTTTCTCTGTCCCATTCCTCCTGTGATCCTCTCAGTCCTCCTGTTTGTTCTCCTCCCTTTCTCCTCAGGGCTCTCAAAGACTTCAGACCAGGCCTACATTGAGTTTGAGAGCATCGAGGCCATTGTGAAGACAGCCAGCCGCACCAAGTTCTTCATCGAGTTCTACTCTACCTGCCTGGAGGGTCAGAGGCGTGGCAGGGGCTGGGTGTGGGCCAAGGAGGATGGGAGGCAAGAGGGTGCAGTCAGCCCCCTACTTAGGGGGAAAGGAAGCTGAGAGGTGGTGCTCAGTTGGGTGTCTCCCACCCCCACCCCAGAATACAAGAAGAGCTTTGAGAATGATGCCCAGAGCAGTGACAACATCAACTTCCTCAAAGTGCAGTGGTCTTCACGCCAGCTGCCCACGGTGAGGCTGTGGGCAGGGCCCCTGCTTATGGGTGAGGGCACAGAGAGGGGTACATAAGAGTTTATTGGAGAGCCTGCCTGGGAGGGAGTGTGGGGCCAGCAGAGAGAGAGAGAGAGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGGGCATGGGCATGAGTGAGGATAAAGGCGTTTGCTTTATTTTGGGAGTGTGGAACCTTGTTGCAGTTTGTTCATTCATTCAGGAGATGCTTCTTGAGCTTTTGCTAGATGTCAGGTCCTGTGTTAGCTATTGAGAAAATTAATTAGTTACAGTGATGCTAGGTGCTGTAAAAGGCCTGTATAGGGCTGTGTCTTCTGCATTAAGGATTTGGCTCTTCTCTGAAGAGTTGAGTGTGAGTGAGCACAGATGACCTGAGGGTGGGGATTGAGTGGTGTCAGGGGGCAGCGCGTAGGAGGGGCAGGAGGAAGTGGCGGGGCTTTGTTCCTCACTGGGCCTCCCTGCTTCCCAGCTCAAACCAATTCTGGCTGATATCGAGTACCTGCAGGACCAGCACCTCCTGCTCACAGTCAAGTCCATGGATGGCTATGAATCCTATGGTGAGGGGTGAGGGGTGCTGAGGGGAACAGGAAGCCAGACAGGGCCCTAGATTAGCTTGGTAATTTGCTGGTTTGTCCCATCTGCTCCTCAGGGGAGTGTGTGGTTGCACTCAAATCCATGATCGGCAGCACGGCCCAACAGTTCCTGACCTTCCTATCCCACCGTGGCGAGGAGACAGGCAATATCAGAGGCTCCATGAAGGTGCGGGTGCCCACGGAGCGCCTGGGCACCCGTGAGCGGCTCTACGGTGGGGACTCCACTGGGACATGAGATAGGGTGGTGTGAACAGATCAAGGAGGGCAGGGTGCGGGGGGCATGTTGGAATCTCTGGGATACCTGGAGGTTCTGCAGCCACAGCTGGGAATAGTCCTGCCCCAAGGCATAGCTGGGAAAGGGCTGGCAGGCCCACTGGGTGTCTGTGGGATCCAGGAGCCCAGGTCTCCTCTGAGTCTCCCTTCCTGCCCCCTCAGAGTGGATCAGCATTGATAAGGATGAGGCAGGAGCAAAGAGCAAAGCCCCCTCTGTGTCCCGAGGGAGCC
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AGCGTCTCTCTGTCCATGGCTTCTGCTTCCTCTCAAGCCTAGGATTGCCCCATTTTTGGTGATCTTAGTTTCCCCATATATAGGGTACTTTGAACTTTGAAAAACATATTCATATTCTAAATCTCTCCCAGCACCACTGGGAAGGCAAGGCCAGGATAATTACCCCCTTTTCACAGATGATAAAACTCAAACCCAGAGTGGTTGAGTGACCTGCCCAAGGTCACACAGCAAGTAAGTGGTGGAGCCAGGCATTGTGCCCAGGTCTCCTGATTTTCGGTCTGGTGCTCTCCCAGGTAGATTCTGCGCAGAATCTGCAGGGCCTTTCAGCTTCACCCTTGGGGTCCCCTGTGATCTCCAGGGGCTCTGCTCACACATACAGACAGACTCAGGCCATCCACACAGACCATGTGTGCCCAATGAGGACCCCCCCCTCCCCCAGGGAAGGTGTGGGTGTGTGCAGGGGCCTGCCCATGTCACAGCGTCTGGTGGGCTCAGCGGGAGGATCCTCTCACTGCAGCTTTGAGAGGCAGAAGGGAGAGTTGGGAGCCCTCTGAGGATGACCCAGGCCTTCCTCTCTTGCTTGCCTTAACAGGGAACAAGGGGGCTGTGGGCGTCTCCTTCATGTTTAATGGCACCTCATTTGGCTTTGTGAATTGTCACCTCACCTCGGGAAATGAGAAGACGGCTCGGTGAGGGGGCGCCTTTCCCATGGTCTCTTTACACCCATCCCATTCACCTGAGGCCTGTTCCCGCTCCCATACCCTAGCCCATGACCCTCCCGCAGGCCTGTCTCCAGAGACCCCCTGCTCTCTTATCCCAATTCAAGACCCTTCTGTTCCTGACCCTAACCTTGTCCCCAGGGGCCCGGATCTTTACCCCATCCCTGACTCCTGAGACTTCTTCCCTTTATGCCTATCCCTGACTTCTGGCCCTGACCCTGGGGATCTACCCCTCCCCACCACGCACCCCTCACCCTAGGAGGAACCAAAACTACTTGGACATCCTGCGGCTGCTCTCGCTGGGCGACCGGCAGCTCAATGCCTTTGACATCTCTCTGCGTTTCACACACCTCTTCTGGTTTGGGGACCTCAACTACCGCCTGGACATGGATATCCAGGTGCGAGCAGGGCCCTGCCATGGCTGTAGGGAGGCTAAGGGCCACATGGGCTATCACCCCTGGCTCTGGCTCCGGAGGAATGTTTCTAGCCTTTGTGTCCTCCACCCCAGGAGATCCTGAACTACATCAGCAGGAAAGAGTTTGAGCCCCTCCTCAGGGTGGACCAGCTCAACCTGGAGCGGGAGAAGCACAAGGTCTTCCTTCGATTCAGTGAGTGTGGGCCTGGTAGGTGGTGATCTGAGGGCTAGGAGACTTGCAGTATCCCTGGGTGTCAGGGCCCTGAACCCCACCTGTCTCCTGCTTTCCTTAGGTGAGGAGGAGATCTCCTTCCCACCCACCTACCGCTATGAGCGGGGTTCCCGGGACACATATGCCTGGCACAAGCAGAAGCCAACTGGGGTGAGCCAAGAAAACGGCATGGGCCTTGGGGGACCGCAGGCCTGCGATGAATCAAGAATTTGGGTCAAGGGTATGGGCCTCTGCAGCTTCCACTCCAGCCTCCATGGCCCCTCTGAGGCCTTTGGGTGATCCTGGGTATTTTGAGGATCCAAGAAGGGAGGTGGGTGCTAGGGCCTCTAGTAATAGAAGTGTGGGGACTCATCAGCTCTGGAGTGGGGTCCATGCCAAGCAGCCTCCTAGCTGTCAGCTCTAACCATGCTGCCATCCCCTGCCCCAGGTCCGGACCAATGTGCCCTCATGGTGTGACCGGATTCTGTGGAAATCCTACCCTGAAACTCACATCATCTGCAATTCTTATGGTCAGAGCCTCCCGGACAGAGTGATGGGAGATCTGGGGTGGTCACCATCTGGACTCTGCCCTAACCTTGGGAGGTGGGAGCCGAGGGTGGGAATATTCCCCCTGAGTCCCCATTCCTATCCCCTCTCCCCAGGTTGCACTGATGACATCGTCACCAGCGACCATTCCCCCGTGATTGGGACATTTGAGGTTGGAGTTACCTCCCAGTTCATCTCCAAGAAAGGTGACTGTTCCAGATATGCTTGTGGGTGTGGCATAATCTAGGTGGGCACAGGTGGTGGCCTCGGGATGTACATAGGTTTGACTATGTAAGTGTGTGTGTGGGTGTGTGTACCAGTGAGTGCAGGAGTGTTTCTCAAGGTGTGATGTGTCAGGGTGTCTGTGCGCCTGGGCCATCACAAGAGTTGTGTGCCCATGAGTGTGTGTGCATACGTGAGTGTACACCTATCTATGTGTCTGTGTCTGTCTAGGGCCACGTGTGTGTCCCTGAGTATGCCTGTAGGTGTGGGAATCCTGCAGGCATTCTGGTCCCCAGCACCCTCTTCAATGGGTTTTTTATCCTTGGGTTGTCTCTTTGCTCTGGTCCAGGGTCTGGCCTCTGGAGATTCCCTGTTGGTGGCTTGGGACTGGGGAGGCCCCTCCTGGCCCTGCCTCCTTGCTCTGGACCCCTGATTTCCTGTCCCAGGGCCCTGTTTCTCTGTCCCATTCCTCCTGTGATCCTCTCAGTCCTCCTGTTTGTTCTCCTCCCTTTCTCCTCAGGGCTCTCAAAGACTTCAGACCAGGCCTACATTGAGTTTGAGAGCATCGAGGCCATTGTGAAGACAGCCAGCCGCACCAAGTTCTTCATCGAGTTCTACTCTACCTGCCTGGAGGGTCAGAGGCGTGGCAGGGGCTGGGTGTGGGCCAAGGAGGATGGGAGGCAAGAGGGTGCAGTCAGCCCCCTACTTAGGGGGAAAGGAAGCTGAGAGGTGGTGCTCAGTTGGGTGTCTCCCACCCCCACCCCAGAATACAAGAAGAGCTTTGAGAATGATGCCCAGAGCAGTGACAACATCAACTTCCTCAAAGTGCAGTGGTCTTCACGCCAGCTGCCCACGGTGAGGCTGTGGGCAGGGCCCCTGCTTATGGGTGAGGGCACAGAGAGGGGTACATAAGAGTTTATTGGAGAGCCTGCCTGGGAGGGAGTGTGGGGCCAGCAGAGAGAGAGAGAGAGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGGGCATGGGCATGAGTGAGGATAAAGGCGTTTGCTTTATTTTGGGAGTGTGGAACCTTGTTGCAGTTTGTTCATTCATTCAGGAGATGCTTCTTGAGCTTTTGCTAGATGTCAGGTCCTGTGTTAGCTATTGAGAAAATTAATTAGTTACAGTGATGCTAGGTGCTGTAAAAGGCCTGTATAGGGCTGTGTCTTCTGCATTAAGGATTTGGCTCTTCTCTGAAGAGTTGAGTGTGAGTGAGCACAGATGACCTGAGGGTGGGGATTGAGTGGTGTCAGGGGGCAGCGCGTAGGAGGGGCAGGAGGAAGTGGCGGGGCTTTGTTCCTCACTGGGCCTCCCTGCTTCCCAGCTCAAACCAATTCTGGCTGATATCGAGTACCTGCAGGACCAGCACCTCCTGCTCACAGTCAAGTCCATGGATGGCTATGAATCCTATGGTGAGGGGTGAGGGGTGCTGAGGGGAACAGGAAGCCAGACAGGGCCCTAGATTAGCTTGGTAATTTGCTGGTTTGTCCCATCTGCTCCTCAGGGGAGTGTGTGGTTGCACTCAAATCCATGATCGGCAGCACGGCCCAACAGTTCCTGACCTTCCTATCCCACCGTGGCGAGGAGACAGGCAATATCAGAGGCTCCATGAAGGTGCGGGTGCCCACGGAGCGCCTGGGCACCCGTGAGCGGCTCTACGGTGGGGACTCCACTGGGACATGAGATAGGGTGGTGTGAACAGATCAAGGAGGGCAGGGTGCGGGGGGCATGTTGGAATCTCTGGGATACCTGGAGGTTCTGCAGCCACAGCTGGGAATAGTCCTGCCCCAAGGCATAGCTGGGAAAGGGCTGGCAGGCCCACTGGGTGTCTGTGGGATCCAGGAGCCCAGGTCTCCTCTGAGTCTCCCTTCCTGCCCCCTCAGAGTGGATCAGCATTGATAAGGATGAGGCAGGAGCAAAGAGCAAAGCCCCCTCTGTGTCCCGAGGGAGCC
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Task1_train_16272
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The variant affects gene CLPB (ClpB family mitochondrial disaggregase), 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; 3-methylglutaconic aciduria, type VIIB
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CCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTAATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACCACACCCGGCAATTTCCTGGTTTTGATAAACTACAGTATGGCTTTGTAGGATGTAATCATTGGGAGATGCTAGATGAAAGATACATGGGAATTTTCTACTATTTCTGCAACTTTCTCTAAGTCTAAAATTATTTCAAAACAAAAAGTAAAAAACAATGAAAAGCAGGCCGGGTCCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAGGTAGCCGGGCGTGGTGGTGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCAGGGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCTTGGGGGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAGGCAGTCAGTGAGGTAGGGAGCAGCAGCCCCTGAGGGGTAGACAGTGATCCAAGCATCTGCTGGAGCTCACACCCTGGATTCTGACTGCCTCATACCCACCATACTGTTAGGACATGCTTCCATTACCCAAGGGACTTTGATTCCTGGCCCCATTCTCTGCTTCCTGAAAGACTAGCTAACACTACGCGAGGGTTCCATGAAGGGCCTGTGGGGGAAGGTGGGTGGACTGCTTATCAGCAGTGGCTACTGTAGATGGTGCCCAAGGATGCACCAGGCCTTACTGTGCCTGGCTAAGGTGGGCTTGAAACATTGGCTGGTCTGTGAAATGCCCTTGGGGGACGGTGTCCAGACCCTCTGCTTTGTGACTAACATGCAGACTGAATAAACTGCATGTTTATTCCAGGCTCGTTTAGCTGGACGAGCAGTACAGACAGGGCTGAGGCTGACTCCATGGCCATGTGGGCAGAGGTCAAACCCATGATCTCTCTTCCTACAGCTTCCTAATGTCTGCGATGTTGGTCTTTTGAAGGAGGCCCCCACAGAGCTGAGCTTGCTTGGTTATCTGGGACTGCTGCTCAGTCTGAGTAGGGGAGGGTAATGAACCAGTCAGGCCTCCTCCTGGAGGTGCCCAACACTGGCCTAGTCCCCAAGGCTGACGAAACATGGTCTGGCCTGACCCCAGGACGTGGGGTGAGGAGGAACACTGGGCATAATATAGTAGCGGAAACAGGCAAGCCTCTATGGGTCCCTTCCCCTTAGAATTTTAGGGTAGGGAACGAGGAGGCTACAGACTAAATTGCAGAACTATCTGCACCTGGGCCTCTGAGCTCTTCCTCCACTCCCAGTGGAGCCATTCTGGGGACTGAGTTGCATGAGGACTAGCAGAGGGTGGCAGTTCAGTCTGGTCCCTGTCTTCTTCCAGCCAGCTGTGTTCTTAGCTGCCATACTTCTGAGCTTCCTGGGAACATGAGAAAGTCTGGCGACTATGGGGGATGGGGATCATTCTGAAGGAAATAAGGGACCTCCATCCCTCCTTGCCTTGAAGGGGGTGGAAAGGCAGCTCCTCTCCTGAAGGCTTGTTAGCAGGTTATGGGCCCACAACAAAGGGGCCAGAGTAGGGCGAAATTCCTCCTTCAGGTTTTGGGGCTGAGAAGGGGTCTTCATGGGCTGTGAGGAGGTAAGCAGGCCTGAGACTGGGTAGAGATGGGAGCGGCATGAGGGGAAGGTAAGTCAGTTGCCATGCCACAGCCAAGGGGCCTTTATTGGATGGTGAGGGCACATAGGAGCAGGCAGGTGGCTGCTAGATGGTGTTGCACACCTTCTCAGGGTGCAGTGGTGCCCGGATGTCCAGTCTGCGAGTCTTGCTGTCCTTGTCGATGATCTCCAGACGCAGCTTGGGGAGGCGCTTCTCAGCCTGGGGTGAGGGCAGTTCTGGGCTTTTGAGTAGCTGCTTGTCTGAGTCCTCCACCGTGATGCGCAAAGTACAGCCCCCTGGCAGCAGGTCCTGCTCATAGGCTGCTGCCAGCTGGTTCACCACACGGCGTTCTACCTGTCGGTGGGGAGGTGAAGTGGTCACTCCCTCGGCCTGGACCCAGCTTGGAGGTCGGCCTCCATCACTTACTGCTAGGGCAACTCAGAGACCTCCTTTGAGCCTGAGCCTCAGCTTTCTCATTTGCCAATTGGGGCTAATAACAGCTAGCTCGCAGGACTGCGCTCAAGTTTCTGAGGCTCCCAGCCCAGTTCCCTGGTCCTAGTGGGGTTCATACTGGGCTACCCTCCAGCAGGGGTTTTACTTGGTGATCATGTGTTTATGGTTCTGAATGGGCATCCACTCTGGGTGTGAATATCCAGCAACCAAGCTATAGGGAGGCAGGCTGAGAGCTCAGGGACTGGGTCTGGGGGGCCCTGGGGAGGGAGGTGTGGAGGCGCCTCATTTCTCAGGCTCCTGTGCTCACCTCATGTTTGATGGAGCGGGCGCCATAGTGCACATTGTAGCCGTCGACCAGCACATCTGCCACCTCGCGGTCCCAGAGCAGCGTGATGTTGTGCCTTTGCTTGGCCTGAGATGGGTCAGATAGAAGCATGCCTGCATGTGGCCCACTGCTTTCCATCTCTTGCCACTCTGGCCTGAGGCCAGGGCCACTGGCCCCACACCACTGTGCTCCACCTTTTATGTGTGTGGGGGTGCCCCCAGTCCAGTGTTCCAGATTTCCAGTGGCTGGCTATCCCGCCCCCACCCATGGGCAGTTCCCTCTTACTCTCTTGGCCCAGAAGTTTAGTTCCTTGTTGACGAGTTGGATGAGCTCCGAGTGGCAGAAGGGGAGGAAGTAGACGATCTCATTGATCCGTCCCAGAAACTCATCCCTCCGGAAGTGAGCCTGAAGGGCCAGGTTAGGGGTGGGATGAGCTCAGTGACCCAGAGCGGGTTAGGGAAATTACCAGACACCAGGGGAAGACTGGGGAAATTATGGGGCTTCCAGATCTTTAGGATGGCTAAGATCACCCTCCCCCAACCTTAGGCTCCAGCAGGAAGTGCCAAGAAAGACCTCTTACTTTCAGGATAGGGCGAATCACATTCTCCTTGAAGTTCTTTGAGATGGTGATCTTGTCACTTATCTGGACATCCCCTGTGGAGAAGAATCATAAACTGCTTATTCCCCACATTCAGGGAACTTTGGGGGCTGTGCCTGCCCCTTGGCCTGCCCATGGAAAGAGCCCTGGTCCTGTCCATCTGTGTGGTCCTGGTCAAGGTCTAAGGCTCTCTGGGCTTCAGCCTGGTCTCCTCCTCTGACCAGGCACTTTCGGAGGCCTTTCCAGCTCTCAAGTGTATGAAGTCTGCGATTCCTCAGGGTGGGAGTTGTGTGAGGGAGGGAGAGGAGAGGAAACGTCAGGATTAAGACTTGAGTCCTGACTTGGAGGAAGGGGGCTGCAGGGCTCGATCTTGAATGGAAAAGGTGACAGACACAGCTTCCTGCCGGATGTGCTCCTTTTTTTCAGCACTCTCCATGGCCCACCTACGCAGGAAGCTGCCCTGGGTGAACAAGGCTGTGTCCACTGCCATAGAGTTTTCGATCTGCTGTCCCCTTCTTGCACCAAAGCATCTGTGTCTCTTGCATGTGCATCTCCTCAGTCCCCTAAGACACTGAGCAGCTTCTGGCCCCCCACCCTGGTGTAGCTCTGTCCATTCCTGCCTGGAGCCCTCTTATCACCCAACAGACTTGAGGCTTTCTTGAAGTGGGGTCTCTGTCTCTTTTGTCTCAACCCCCACTACTTGGTATGGTGTCTGATATCTGCTCAGTGTCAGCTAGGGACAGAGCTGCCCACTAGAACCTTCACCTGGGCCCAGGGCCCCAATCCCATCCTTCCCCAGGAGATAGGCTGGTGGCTTGGTCACTGGACCAGACTGCTCAGGTCAGCCGCCATACCCAGGTTTTCGGCAATACGGTTACGGCTCATCTCCAAAGCTTCCTGCCTCAGCTGCAGCGCGTGCTGTGCGATCTCGTCGCTGGCCACATTGGAGGTCATGATGAAGATG
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CCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTAATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACCACACCCGGCAATTTCCTGGTTTTGATAAACTACAGTATGGCTTTGTAGGATGTAATCATTGGGAGATGCTAGATGAAAGATACATGGGAATTTTCTACTATTTCTGCAACTTTCTCTAAGTCTAAAATTATTTCAAAACAAAAAGTAAAAAACAATGAAAAGCAGGCCGGGTCCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAGGTAGCCGGGCGTGGTGGTGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCAGGGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCTTGGGGGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAGGCAGTCAGTGAGGTAGGGAGCAGCAGCCCCTGAGGGGTAGACAGTGATCCAAGCATCTGCTGGAGCTCACACCCTGGATTCTGACTGCCTCATACCCACCATACTGTTAGGACATGCTTCCATTACCCAAGGGACTTTGATTCCTGGCCCCATTCTCTGCTTCCTGAAAGACTAGCTAACACTACGCGAGGGTTCCATGAAGGGCCTGTGGGGGAAGGTGGGTGGACTGCTTATCAGCAGTGGCTACTGTAGATGGTGCCCAAGGATGCACCAGGCCTTACTGTGCCTGGCTAAGGTGGGCTTGAAACATTGGCTGGTCTGTGAAATGCCCTTGGGGGACGGTGTCCAGACCCTCTGCTTTGTGACTAACATGCAGACTGAATAAACTGCATGTTTATTCCAGGCTCGTTTAGCTGGACGAGCAGTACAGACAGGGCTGAGGCTGACTCCATGGCCATGTGGGCAGAGGTCAAACCCATGATCTCTCTTCCTACAGCTTCCTAATGTCTGCGATGTTGGTCTTTTGAAGGAGGCCCCCACAGAGCTGAGCTTGCTTGGTTATCTGGGACTGCTGCTCAGTCTGAGTAGGGGAGGGTAATGAACCAGTCAGGCCTCCTCCTGGAGGTGCCCAACACTGGCCTAGTCCCCAAGGCTGACGAAACATGGTCTGGCCTGACCCCAGGACGTGGGGTGAGGAGGAACACTGGGCATAATATAGTAGCGGAAACAGGCAAGCCTCTATGGGTCCCTTCCCCTTAGAATTTTAGGGTAGGGAACGAGGAGGCTACAGACTAAATTGCAGAACTATCTGCACCTGGGCCTCTGAGCTCTTCCTCCACTCCCAGTGGAGCCATTCTGGGGACTGAGTTGCATGAGGACTAGCAGAGGGTGGCAGTTCAGTCTGGTCCCTGTCTTCTTCCAGCCAGCTGTGTTCTTAGCTGCCATACTTCTGAGCTTCCTGGGAACATGAGAAAGTCTGGCGACTATGGGGGATGGGGATCATTCTGAAGGAAATAAGGGACCTCCATCCCTCCTTGCCTTGAAGGGGGTGGAAAGGCAGCTCCTCTCCTGAAGGCTTGTTAGCAGGTTATGGGCCCACAACAAAGGGGCCAGAGTAGGGCGAAATTCCTCCTTCAGGTTTTGGGGCTGAGAAGGGGTCTTCATGGGCTGTGAGGAGGTAAGCAGGCCTGAGACTGGGTAGAGATGGGAGCGGCATGAGGGGAAGGTAAGTCAGTTGCCATGCCACAGCCAAGGGGCCTTTATTGGATGGTGAGGGCACATAGGAGCAGGCAGGTGGCTGCTAGATGGTGTTGCACACCTTCTCAGGGTGCAGTGGTGCCCGGATGTCCAGTCTGCGAGTCTTGCTGTCCTTGTCGATGATCTCCAGACGCAGCTTGGGGAGGCGCTTCTCAGCCTGGGGTGAGGGCAGTTCTGGGCTTTTGAGTAGCTGCTTGTCTGAGTCCTCCACCGTGATGCGCAAAGTACAGACCCCTGGCAGCAGGTCCTGCTCATAGGCTGCTGCCAGCTGGTTCACCACACGGCGTTCTACCTGTCGGTGGGGAGGTGAAGTGGTCACTCCCTCGGCCTGGACCCAGCTTGGAGGTCGGCCTCCATCACTTACTGCTAGGGCAACTCAGAGACCTCCTTTGAGCCTGAGCCTCAGCTTTCTCATTTGCCAATTGGGGCTAATAACAGCTAGCTCGCAGGACTGCGCTCAAGTTTCTGAGGCTCCCAGCCCAGTTCCCTGGTCCTAGTGGGGTTCATACTGGGCTACCCTCCAGCAGGGGTTTTACTTGGTGATCATGTGTTTATGGTTCTGAATGGGCATCCACTCTGGGTGTGAATATCCAGCAACCAAGCTATAGGGAGGCAGGCTGAGAGCTCAGGGACTGGGTCTGGGGGGCCCTGGGGAGGGAGGTGTGGAGGCGCCTCATTTCTCAGGCTCCTGTGCTCACCTCATGTTTGATGGAGCGGGCGCCATAGTGCACATTGTAGCCGTCGACCAGCACATCTGCCACCTCGCGGTCCCAGAGCAGCGTGATGTTGTGCCTTTGCTTGGCCTGAGATGGGTCAGATAGAAGCATGCCTGCATGTGGCCCACTGCTTTCCATCTCTTGCCACTCTGGCCTGAGGCCAGGGCCACTGGCCCCACACCACTGTGCTCCACCTTTTATGTGTGTGGGGGTGCCCCCAGTCCAGTGTTCCAGATTTCCAGTGGCTGGCTATCCCGCCCCCACCCATGGGCAGTTCCCTCTTACTCTCTTGGCCCAGAAGTTTAGTTCCTTGTTGACGAGTTGGATGAGCTCCGAGTGGCAGAAGGGGAGGAAGTAGACGATCTCATTGATCCGTCCCAGAAACTCATCCCTCCGGAAGTGAGCCTGAAGGGCCAGGTTAGGGGTGGGATGAGCTCAGTGACCCAGAGCGGGTTAGGGAAATTACCAGACACCAGGGGAAGACTGGGGAAATTATGGGGCTTCCAGATCTTTAGGATGGCTAAGATCACCCTCCCCCAACCTTAGGCTCCAGCAGGAAGTGCCAAGAAAGACCTCTTACTTTCAGGATAGGGCGAATCACATTCTCCTTGAAGTTCTTTGAGATGGTGATCTTGTCACTTATCTGGACATCCCCTGTGGAGAAGAATCATAAACTGCTTATTCCCCACATTCAGGGAACTTTGGGGGCTGTGCCTGCCCCTTGGCCTGCCCATGGAAAGAGCCCTGGTCCTGTCCATCTGTGTGGTCCTGGTCAAGGTCTAAGGCTCTCTGGGCTTCAGCCTGGTCTCCTCCTCTGACCAGGCACTTTCGGAGGCCTTTCCAGCTCTCAAGTGTATGAAGTCTGCGATTCCTCAGGGTGGGAGTTGTGTGAGGGAGGGAGAGGAGAGGAAACGTCAGGATTAAGACTTGAGTCCTGACTTGGAGGAAGGGGGCTGCAGGGCTCGATCTTGAATGGAAAAGGTGACAGACACAGCTTCCTGCCGGATGTGCTCCTTTTTTTCAGCACTCTCCATGGCCCACCTACGCAGGAAGCTGCCCTGGGTGAACAAGGCTGTGTCCACTGCCATAGAGTTTTCGATCTGCTGTCCCCTTCTTGCACCAAAGCATCTGTGTCTCTTGCATGTGCATCTCCTCAGTCCCCTAAGACACTGAGCAGCTTCTGGCCCCCCACCCTGGTGTAGCTCTGTCCATTCCTGCCTGGAGCCCTCTTATCACCCAACAGACTTGAGGCTTTCTTGAAGTGGGGTCTCTGTCTCTTTTGTCTCAACCCCCACTACTTGGTATGGTGTCTGATATCTGCTCAGTGTCAGCTAGGGACAGAGCTGCCCACTAGAACCTTCACCTGGGCCCAGGGCCCCAATCCCATCCTTCCCCAGGAGATAGGCTGGTGGCTTGGTCACTGGACCAGACTGCTCAGGTCAGCCGCCATACCCAGGTTTTCGGCAATACGGTTACGGCTCATCTCCAAAGCTTCCTGCCTCAGCTGCAGCGCGTGCTGTGCGATCTCGTCGCTGGCCACATTGGAGGTCATGATGAAGATG
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Task1_train_16273
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This variant affects gene CLPB (ClpB family mitochondrial disaggregase) located on Chromosome 11. Evaluate its biological effect and specify any disease association.
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Pathogenic; 3-methylglutaconic aciduria, type VIIB
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CGAGATCGCGCCACTGCACTCCAGCTTGGGGGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAGGCAGTCAGTGAGGTAGGGAGCAGCAGCCCCTGAGGGGTAGACAGTGATCCAAGCATCTGCTGGAGCTCACACCCTGGATTCTGACTGCCTCATACCCACCATACTGTTAGGACATGCTTCCATTACCCAAGGGACTTTGATTCCTGGCCCCATTCTCTGCTTCCTGAAAGACTAGCTAACACTACGCGAGGGTTCCATGAAGGGCCTGTGGGGGAAGGTGGGTGGACTGCTTATCAGCAGTGGCTACTGTAGATGGTGCCCAAGGATGCACCAGGCCTTACTGTGCCTGGCTAAGGTGGGCTTGAAACATTGGCTGGTCTGTGAAATGCCCTTGGGGGACGGTGTCCAGACCCTCTGCTTTGTGACTAACATGCAGACTGAATAAACTGCATGTTTATTCCAGGCTCGTTTAGCTGGACGAGCAGTACAGACAGGGCTGAGGCTGACTCCATGGCCATGTGGGCAGAGGTCAAACCCATGATCTCTCTTCCTACAGCTTCCTAATGTCTGCGATGTTGGTCTTTTGAAGGAGGCCCCCACAGAGCTGAGCTTGCTTGGTTATCTGGGACTGCTGCTCAGTCTGAGTAGGGGAGGGTAATGAACCAGTCAGGCCTCCTCCTGGAGGTGCCCAACACTGGCCTAGTCCCCAAGGCTGACGAAACATGGTCTGGCCTGACCCCAGGACGTGGGGTGAGGAGGAACACTGGGCATAATATAGTAGCGGAAACAGGCAAGCCTCTATGGGTCCCTTCCCCTTAGAATTTTAGGGTAGGGAACGAGGAGGCTACAGACTAAATTGCAGAACTATCTGCACCTGGGCCTCTGAGCTCTTCCTCCACTCCCAGTGGAGCCATTCTGGGGACTGAGTTGCATGAGGACTAGCAGAGGGTGGCAGTTCAGTCTGGTCCCTGTCTTCTTCCAGCCAGCTGTGTTCTTAGCTGCCATACTTCTGAGCTTCCTGGGAACATGAGAAAGTCTGGCGACTATGGGGGATGGGGATCATTCTGAAGGAAATAAGGGACCTCCATCCCTCCTTGCCTTGAAGGGGGTGGAAAGGCAGCTCCTCTCCTGAAGGCTTGTTAGCAGGTTATGGGCCCACAACAAAGGGGCCAGAGTAGGGCGAAATTCCTCCTTCAGGTTTTGGGGCTGAGAAGGGGTCTTCATGGGCTGTGAGGAGGTAAGCAGGCCTGAGACTGGGTAGAGATGGGAGCGGCATGAGGGGAAGGTAAGTCAGTTGCCATGCCACAGCCAAGGGGCCTTTATTGGATGGTGAGGGCACATAGGAGCAGGCAGGTGGCTGCTAGATGGTGTTGCACACCTTCTCAGGGTGCAGTGGTGCCCGGATGTCCAGTCTGCGAGTCTTGCTGTCCTTGTCGATGATCTCCAGACGCAGCTTGGGGAGGCGCTTCTCAGCCTGGGGTGAGGGCAGTTCTGGGCTTTTGAGTAGCTGCTTGTCTGAGTCCTCCACCGTGATGCGCAAAGTACAGCCCCCTGGCAGCAGGTCCTGCTCATAGGCTGCTGCCAGCTGGTTCACCACACGGCGTTCTACCTGTCGGTGGGGAGGTGAAGTGGTCACTCCCTCGGCCTGGACCCAGCTTGGAGGTCGGCCTCCATCACTTACTGCTAGGGCAACTCAGAGACCTCCTTTGAGCCTGAGCCTCAGCTTTCTCATTTGCCAATTGGGGCTAATAACAGCTAGCTCGCAGGACTGCGCTCAAGTTTCTGAGGCTCCCAGCCCAGTTCCCTGGTCCTAGTGGGGTTCATACTGGGCTACCCTCCAGCAGGGGTTTTACTTGGTGATCATGTGTTTATGGTTCTGAATGGGCATCCACTCTGGGTGTGAATATCCAGCAACCAAGCTATAGGGAGGCAGGCTGAGAGCTCAGGGACTGGGTCTGGGGGGCCCTGGGGAGGGAGGTGTGGAGGCGCCTCATTTCTCAGGCTCCTGTGCTCACCTCATGTTTGATGGAGCGGGCGCCATAGTGCACATTGTAGCCGTCGACCAGCACATCTGCCACCTCGCGGTCCCAGAGCAGCGTGATGTTGTGCCTTTGCTTGGCCTGAGATGGGTCAGATAGAAGCATGCCTGCATGTGGCCCACTGCTTTCCATCTCTTGCCACTCTGGCCTGAGGCCAGGGCCACTGGCCCCACACCACTGTGCTCCACCTTTTATGTGTGTGGGGGTGCCCCCAGTCCAGTGTTCCAGATTTCCAGTGGCTGGCTATCCCGCCCCCACCCATGGGCAGTTCCCTCTTACTCTCTTGGCCCAGAAGTTTAGTTCCTTGTTGACGAGTTGGATGAGCTCCGAGTGGCAGAAGGGGAGGAAGTAGACGATCTCATTGATCCGTCCCAGAAACTCATCCCTCCGGAAGTGAGCCTGAAGGGCCAGGTTAGGGGTGGGATGAGCTCAGTGACCCAGAGCGGGTTAGGGAAATTACCAGACACCAGGGGAAGACTGGGGAAATTATGGGGCTTCCAGATCTTTAGGATGGCTAAGATCACCCTCCCCCAACCTTAGGCTCCAGCAGGAAGTGCCAAGAAAGACCTCTTACTTTCAGGATAGGGCGAATCACATTCTCCTTGAAGTTCTTTGAGATGGTGATCTTGTCACTTATCTGGACATCCCCTGTGGAGAAGAATCATAAACTGCTTATTCCCCACATTCAGGGAACTTTGGGGGCTGTGCCTGCCCCTTGGCCTGCCCATGGAAAGAGCCCTGGTCCTGTCCATCTGTGTGGTCCTGGTCAAGGTCTAAGGCTCTCTGGGCTTCAGCCTGGTCTCCTCCTCTGACCAGGCACTTTCGGAGGCCTTTCCAGCTCTCAAGTGTATGAAGTCTGCGATTCCTCAGGGTGGGAGTTGTGTGAGGGAGGGAGAGGAGAGGAAACGTCAGGATTAAGACTTGAGTCCTGACTTGGAGGAAGGGGGCTGCAGGGCTCGATCTTGAATGGAAAAGGTGACAGACACAGCTTCCTGCCGGATGTGCTCCTTTTTTTCAGCACTCTCCATGGCCCACCTACGCAGGAAGCTGCCCTGGGTGAACAAGGCTGTGTCCACTGCCATAGAGTTTTCGATCTGCTGTCCCCTTCTTGCACCAAAGCATCTGTGTCTCTTGCATGTGCATCTCCTCAGTCCCCTAAGACACTGAGCAGCTTCTGGCCCCCCACCCTGGTGTAGCTCTGTCCATTCCTGCCTGGAGCCCTCTTATCACCCAACAGACTTGAGGCTTTCTTGAAGTGGGGTCTCTGTCTCTTTTGTCTCAACCCCCACTACTTGGTATGGTGTCTGATATCTGCTCAGTGTCAGCTAGGGACAGAGCTGCCCACTAGAACCTTCACCTGGGCCCAGGGCCCCAATCCCATCCTTCCCCAGGAGATAGGCTGGTGGCTTGGTCACTGGACCAGACTGCTCAGGTCAGCCGCCATACCCAGGTTTTCGGCAATACGGTTACGGCTCATCTCCAAAGCTTCCTGCCTCAGCTGCAGCGCGTGCTGTGCGATCTCGTCGCTGGCCACATTGGAGGTCATGATGAAGATGGCGTCCTTGCAATCAATGGTCTTCCCTTTTCCATCTGTCAGCCGGCCCTGGGAAGGGAAGGAAGGGAGTGTACAGTCAGGGAGCTATGTGCCTGGGCAGGCCTTAGCACTCTCAGTTCTCACCTCCTTCAGGAGGCCTCCCCAGAGCCCTGTGTCTCCCTCCAGCCCCAGCAGCCAGCTGCTTCCTCCTCTGGGTTCTCCGAGCACTAGACTTGCACCTTGGCTGCTGTGCTCACCGCCCTGCGCTGCAACTGCTCTCCCTACTGAGTGCCTCCAGGTGAGGCTGCAGTTGCTCTCTGGCATCTCTTGGGGCACCCAACTATCCCTGGCATGCAGAAGTCAGTCACAGTTAGCCATTCATTTGTGCAACCAACACATTTTTTGGAGGCCCGCTGTGGGCCAGGATCTGTGGTGGGGTACTGGGGTCCCACTGAGCCTACAACATGCTCCCAGTATAGAGAAGCAGTGAGATACAGGAAACAAGCA
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CGAGATCGCGCCACTGCACTCCAGCTTGGGGGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAGGCAGTCAGTGAGGTAGGGAGCAGCAGCCCCTGAGGGGTAGACAGTGATCCAAGCATCTGCTGGAGCTCACACCCTGGATTCTGACTGCCTCATACCCACCATACTGTTAGGACATGCTTCCATTACCCAAGGGACTTTGATTCCTGGCCCCATTCTCTGCTTCCTGAAAGACTAGCTAACACTACGCGAGGGTTCCATGAAGGGCCTGTGGGGGAAGGTGGGTGGACTGCTTATCAGCAGTGGCTACTGTAGATGGTGCCCAAGGATGCACCAGGCCTTACTGTGCCTGGCTAAGGTGGGCTTGAAACATTGGCTGGTCTGTGAAATGCCCTTGGGGGACGGTGTCCAGACCCTCTGCTTTGTGACTAACATGCAGACTGAATAAACTGCATGTTTATTCCAGGCTCGTTTAGCTGGACGAGCAGTACAGACAGGGCTGAGGCTGACTCCATGGCCATGTGGGCAGAGGTCAAACCCATGATCTCTCTTCCTACAGCTTCCTAATGTCTGCGATGTTGGTCTTTTGAAGGAGGCCCCCACAGAGCTGAGCTTGCTTGGTTATCTGGGACTGCTGCTCAGTCTGAGTAGGGGAGGGTAATGAACCAGTCAGGCCTCCTCCTGGAGGTGCCCAACACTGGCCTAGTCCCCAAGGCTGACGAAACATGGTCTGGCCTGACCCCAGGACGTGGGGTGAGGAGGAACACTGGGCATAATATAGTAGCGGAAACAGGCAAGCCTCTATGGGTCCCTTCCCCTTAGAATTTTAGGGTAGGGAACGAGGAGGCTACAGACTAAATTGCAGAACTATCTGCACCTGGGCCTCTGAGCTCTTCCTCCACTCCCAGTGGAGCCATTCTGGGGACTGAGTTGCATGAGGACTAGCAGAGGGTGGCAGTTCAGTCTGGTCCCTGTCTTCTTCCAGCCAGCTGTGTTCTTAGCTGCCATACTTCTGAGCTTCCTGGGAACATGAGAAAGTCTGGCGACTATGGGGGATGGGGATCATTCTGAAGGAAATAAGGGACCTCCATCCCTCCTTGCCTTGAAGGGGGTGGAAAGGCAGCTCCTCTCCTGAAGGCTTGTTAGCAGGTTATGGGCCCACAACAAAGGGGCCAGAGTAGGGCGAAATTCCTCCTTCAGGTTTTGGGGCTGAGAAGGGGTCTTCATGGGCTGTGAGGAGGTAAGCAGGCCTGAGACTGGGTAGAGATGGGAGCGGCATGAGGGGAAGGTAAGTCAGTTGCCATGCCACAGCCAAGGGGCCTTTATTGGATGGTGAGGGCACATAGGAGCAGGCAGGTGGCTGCTAGATGGTGTTGCACACCTTCTCAGGGTGCAGTGGTGCCCGGATGTCCAGTCTGCGAGTCTTGCTGTCCTTGTCGATGATCTCCAGACGCAGCTTGGGGAGGCGCTTCTCAGCCTGGGGTGAGGGCAGTTCTGGGCTTTTGAGTAGCTGCTTGTCTGAGTCCTCCACCGTGATGCGCAAAGTACAGCCCCCTGGCAGCAGGTCCTGCTCATAGGCTGCTGCCAGCTGGTTCACCACACGGCGTTCTACCTGTCGGTGGGGAGGTGAAGTGGTCACTCCCTCGGCCTGGACCCAGCTTGGAGGTCGGCCTCCATCACTTACTGCTAGGGCAACTCAGAGACCTCCTTTGAGCCTGAGCCTCAGCTTTCTCATTTGCCAATTGGGGCTAATAACAGCTAGCTCGCAGGACTGCGCTCAAGTTTCTGAGGCTCCCAGCCCAGTTCCCTGGTCCTAGTGGGGTTCATACTGGGCTACCCTCCAGCAGGGGTTTTACTTGGTGATCATGTGTTTATGGTTCTGAATGGGCATCCACTCTGGGTGTGAATATCCAGCAACCAAGCTATAGGGAGGCAGGCTGAGAGCTCAGGGACTGGGTCTGGGGGGCCCTGGGGAGGGAGGTGTGGAGGCGCCTCATTTCTCAGGCTCCTGTGCTCACCTCATGTTTGATGGAGCAGGCGCCATAGTGCACATTGTAGCCGTCGACCAGCACATCTGCCACCTCGCGGTCCCAGAGCAGCGTGATGTTGTGCCTTTGCTTGGCCTGAGATGGGTCAGATAGAAGCATGCCTGCATGTGGCCCACTGCTTTCCATCTCTTGCCACTCTGGCCTGAGGCCAGGGCCACTGGCCCCACACCACTGTGCTCCACCTTTTATGTGTGTGGGGGTGCCCCCAGTCCAGTGTTCCAGATTTCCAGTGGCTGGCTATCCCGCCCCCACCCATGGGCAGTTCCCTCTTACTCTCTTGGCCCAGAAGTTTAGTTCCTTGTTGACGAGTTGGATGAGCTCCGAGTGGCAGAAGGGGAGGAAGTAGACGATCTCATTGATCCGTCCCAGAAACTCATCCCTCCGGAAGTGAGCCTGAAGGGCCAGGTTAGGGGTGGGATGAGCTCAGTGACCCAGAGCGGGTTAGGGAAATTACCAGACACCAGGGGAAGACTGGGGAAATTATGGGGCTTCCAGATCTTTAGGATGGCTAAGATCACCCTCCCCCAACCTTAGGCTCCAGCAGGAAGTGCCAAGAAAGACCTCTTACTTTCAGGATAGGGCGAATCACATTCTCCTTGAAGTTCTTTGAGATGGTGATCTTGTCACTTATCTGGACATCCCCTGTGGAGAAGAATCATAAACTGCTTATTCCCCACATTCAGGGAACTTTGGGGGCTGTGCCTGCCCCTTGGCCTGCCCATGGAAAGAGCCCTGGTCCTGTCCATCTGTGTGGTCCTGGTCAAGGTCTAAGGCTCTCTGGGCTTCAGCCTGGTCTCCTCCTCTGACCAGGCACTTTCGGAGGCCTTTCCAGCTCTCAAGTGTATGAAGTCTGCGATTCCTCAGGGTGGGAGTTGTGTGAGGGAGGGAGAGGAGAGGAAACGTCAGGATTAAGACTTGAGTCCTGACTTGGAGGAAGGGGGCTGCAGGGCTCGATCTTGAATGGAAAAGGTGACAGACACAGCTTCCTGCCGGATGTGCTCCTTTTTTTCAGCACTCTCCATGGCCCACCTACGCAGGAAGCTGCCCTGGGTGAACAAGGCTGTGTCCACTGCCATAGAGTTTTCGATCTGCTGTCCCCTTCTTGCACCAAAGCATCTGTGTCTCTTGCATGTGCATCTCCTCAGTCCCCTAAGACACTGAGCAGCTTCTGGCCCCCCACCCTGGTGTAGCTCTGTCCATTCCTGCCTGGAGCCCTCTTATCACCCAACAGACTTGAGGCTTTCTTGAAGTGGGGTCTCTGTCTCTTTTGTCTCAACCCCCACTACTTGGTATGGTGTCTGATATCTGCTCAGTGTCAGCTAGGGACAGAGCTGCCCACTAGAACCTTCACCTGGGCCCAGGGCCCCAATCCCATCCTTCCCCAGGAGATAGGCTGGTGGCTTGGTCACTGGACCAGACTGCTCAGGTCAGCCGCCATACCCAGGTTTTCGGCAATACGGTTACGGCTCATCTCCAAAGCTTCCTGCCTCAGCTGCAGCGCGTGCTGTGCGATCTCGTCGCTGGCCACATTGGAGGTCATGATGAAGATGGCGTCCTTGCAATCAATGGTCTTCCCTTTTCCATCTGTCAGCCGGCCCTGGGAAGGGAAGGAAGGGAGTGTACAGTCAGGGAGCTATGTGCCTGGGCAGGCCTTAGCACTCTCAGTTCTCACCTCCTTCAGGAGGCCTCCCCAGAGCCCTGTGTCTCCCTCCAGCCCCAGCAGCCAGCTGCTTCCTCCTCTGGGTTCTCCGAGCACTAGACTTGCACCTTGGCTGCTGTGCTCACCGCCCTGCGCTGCAACTGCTCTCCCTACTGAGTGCCTCCAGGTGAGGCTGCAGTTGCTCTCTGGCATCTCTTGGGGCACCCAACTATCCCTGGCATGCAGAAGTCAGTCACAGTTAGCCATTCATTTGTGCAACCAACACATTTTTTGGAGGCCCGCTGTGGGCCAGGATCTGTGGTGGGGTACTGGGGTCCCACTGAGCCTACAACATGCTCCCAGTATAGAGAAGCAGTGAGATACAGGAAACAAGCA
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Task1_train_16274
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The gene CLPB (ClpB family mitochondrial disaggregase) 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; 3-methylglutaconic aciduria, type VIIB
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CGCCACTGCACTCCAGCTTGGGGGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAGGCAGTCAGTGAGGTAGGGAGCAGCAGCCCCTGAGGGGTAGACAGTGATCCAAGCATCTGCTGGAGCTCACACCCTGGATTCTGACTGCCTCATACCCACCATACTGTTAGGACATGCTTCCATTACCCAAGGGACTTTGATTCCTGGCCCCATTCTCTGCTTCCTGAAAGACTAGCTAACACTACGCGAGGGTTCCATGAAGGGCCTGTGGGGGAAGGTGGGTGGACTGCTTATCAGCAGTGGCTACTGTAGATGGTGCCCAAGGATGCACCAGGCCTTACTGTGCCTGGCTAAGGTGGGCTTGAAACATTGGCTGGTCTGTGAAATGCCCTTGGGGGACGGTGTCCAGACCCTCTGCTTTGTGACTAACATGCAGACTGAATAAACTGCATGTTTATTCCAGGCTCGTTTAGCTGGACGAGCAGTACAGACAGGGCTGAGGCTGACTCCATGGCCATGTGGGCAGAGGTCAAACCCATGATCTCTCTTCCTACAGCTTCCTAATGTCTGCGATGTTGGTCTTTTGAAGGAGGCCCCCACAGAGCTGAGCTTGCTTGGTTATCTGGGACTGCTGCTCAGTCTGAGTAGGGGAGGGTAATGAACCAGTCAGGCCTCCTCCTGGAGGTGCCCAACACTGGCCTAGTCCCCAAGGCTGACGAAACATGGTCTGGCCTGACCCCAGGACGTGGGGTGAGGAGGAACACTGGGCATAATATAGTAGCGGAAACAGGCAAGCCTCTATGGGTCCCTTCCCCTTAGAATTTTAGGGTAGGGAACGAGGAGGCTACAGACTAAATTGCAGAACTATCTGCACCTGGGCCTCTGAGCTCTTCCTCCACTCCCAGTGGAGCCATTCTGGGGACTGAGTTGCATGAGGACTAGCAGAGGGTGGCAGTTCAGTCTGGTCCCTGTCTTCTTCCAGCCAGCTGTGTTCTTAGCTGCCATACTTCTGAGCTTCCTGGGAACATGAGAAAGTCTGGCGACTATGGGGGATGGGGATCATTCTGAAGGAAATAAGGGACCTCCATCCCTCCTTGCCTTGAAGGGGGTGGAAAGGCAGCTCCTCTCCTGAAGGCTTGTTAGCAGGTTATGGGCCCACAACAAAGGGGCCAGAGTAGGGCGAAATTCCTCCTTCAGGTTTTGGGGCTGAGAAGGGGTCTTCATGGGCTGTGAGGAGGTAAGCAGGCCTGAGACTGGGTAGAGATGGGAGCGGCATGAGGGGAAGGTAAGTCAGTTGCCATGCCACAGCCAAGGGGCCTTTATTGGATGGTGAGGGCACATAGGAGCAGGCAGGTGGCTGCTAGATGGTGTTGCACACCTTCTCAGGGTGCAGTGGTGCCCGGATGTCCAGTCTGCGAGTCTTGCTGTCCTTGTCGATGATCTCCAGACGCAGCTTGGGGAGGCGCTTCTCAGCCTGGGGTGAGGGCAGTTCTGGGCTTTTGAGTAGCTGCTTGTCTGAGTCCTCCACCGTGATGCGCAAAGTACAGCCCCCTGGCAGCAGGTCCTGCTCATAGGCTGCTGCCAGCTGGTTCACCACACGGCGTTCTACCTGTCGGTGGGGAGGTGAAGTGGTCACTCCCTCGGCCTGGACCCAGCTTGGAGGTCGGCCTCCATCACTTACTGCTAGGGCAACTCAGAGACCTCCTTTGAGCCTGAGCCTCAGCTTTCTCATTTGCCAATTGGGGCTAATAACAGCTAGCTCGCAGGACTGCGCTCAAGTTTCTGAGGCTCCCAGCCCAGTTCCCTGGTCCTAGTGGGGTTCATACTGGGCTACCCTCCAGCAGGGGTTTTACTTGGTGATCATGTGTTTATGGTTCTGAATGGGCATCCACTCTGGGTGTGAATATCCAGCAACCAAGCTATAGGGAGGCAGGCTGAGAGCTCAGGGACTGGGTCTGGGGGGCCCTGGGGAGGGAGGTGTGGAGGCGCCTCATTTCTCAGGCTCCTGTGCTCACCTCATGTTTGATGGAGCGGGCGCCATAGTGCACATTGTAGCCGTCGACCAGCACATCTGCCACCTCGCGGTCCCAGAGCAGCGTGATGTTGTGCCTTTGCTTGGCCTGAGATGGGTCAGATAGAAGCATGCCTGCATGTGGCCCACTGCTTTCCATCTCTTGCCACTCTGGCCTGAGGCCAGGGCCACTGGCCCCACACCACTGTGCTCCACCTTTTATGTGTGTGGGGGTGCCCCCAGTCCAGTGTTCCAGATTTCCAGTGGCTGGCTATCCCGCCCCCACCCATGGGCAGTTCCCTCTTACTCTCTTGGCCCAGAAGTTTAGTTCCTTGTTGACGAGTTGGATGAGCTCCGAGTGGCAGAAGGGGAGGAAGTAGACGATCTCATTGATCCGTCCCAGAAACTCATCCCTCCGGAAGTGAGCCTGAAGGGCCAGGTTAGGGGTGGGATGAGCTCAGTGACCCAGAGCGGGTTAGGGAAATTACCAGACACCAGGGGAAGACTGGGGAAATTATGGGGCTTCCAGATCTTTAGGATGGCTAAGATCACCCTCCCCCAACCTTAGGCTCCAGCAGGAAGTGCCAAGAAAGACCTCTTACTTTCAGGATAGGGCGAATCACATTCTCCTTGAAGTTCTTTGAGATGGTGATCTTGTCACTTATCTGGACATCCCCTGTGGAGAAGAATCATAAACTGCTTATTCCCCACATTCAGGGAACTTTGGGGGCTGTGCCTGCCCCTTGGCCTGCCCATGGAAAGAGCCCTGGTCCTGTCCATCTGTGTGGTCCTGGTCAAGGTCTAAGGCTCTCTGGGCTTCAGCCTGGTCTCCTCCTCTGACCAGGCACTTTCGGAGGCCTTTCCAGCTCTCAAGTGTATGAAGTCTGCGATTCCTCAGGGTGGGAGTTGTGTGAGGGAGGGAGAGGAGAGGAAACGTCAGGATTAAGACTTGAGTCCTGACTTGGAGGAAGGGGGCTGCAGGGCTCGATCTTGAATGGAAAAGGTGACAGACACAGCTTCCTGCCGGATGTGCTCCTTTTTTTCAGCACTCTCCATGGCCCACCTACGCAGGAAGCTGCCCTGGGTGAACAAGGCTGTGTCCACTGCCATAGAGTTTTCGATCTGCTGTCCCCTTCTTGCACCAAAGCATCTGTGTCTCTTGCATGTGCATCTCCTCAGTCCCCTAAGACACTGAGCAGCTTCTGGCCCCCCACCCTGGTGTAGCTCTGTCCATTCCTGCCTGGAGCCCTCTTATCACCCAACAGACTTGAGGCTTTCTTGAAGTGGGGTCTCTGTCTCTTTTGTCTCAACCCCCACTACTTGGTATGGTGTCTGATATCTGCTCAGTGTCAGCTAGGGACAGAGCTGCCCACTAGAACCTTCACCTGGGCCCAGGGCCCCAATCCCATCCTTCCCCAGGAGATAGGCTGGTGGCTTGGTCACTGGACCAGACTGCTCAGGTCAGCCGCCATACCCAGGTTTTCGGCAATACGGTTACGGCTCATCTCCAAAGCTTCCTGCCTCAGCTGCAGCGCGTGCTGTGCGATCTCGTCGCTGGCCACATTGGAGGTCATGATGAAGATGGCGTCCTTGCAATCAATGGTCTTCCCTTTTCCATCTGTCAGCCGGCCCTGGGAAGGGAAGGAAGGGAGTGTACAGTCAGGGAGCTATGTGCCTGGGCAGGCCTTAGCACTCTCAGTTCTCACCTCCTTCAGGAGGCCTCCCCAGAGCCCTGTGTCTCCCTCCAGCCCCAGCAGCCAGCTGCTTCCTCCTCTGGGTTCTCCGAGCACTAGACTTGCACCTTGGCTGCTGTGCTCACCGCCCTGCGCTGCAACTGCTCTCCCTACTGAGTGCCTCCAGGTGAGGCTGCAGTTGCTCTCTGGCATCTCTTGGGGCACCCAACTATCCCTGGCATGCAGAAGTCAGTCACAGTTAGCCATTCATTTGTGCAACCAACACATTTTTTGGAGGCCCGCTGTGGGCCAGGATCTGTGGTGGGGTACTGGGGTCCCACTGAGCCTACAACATGCTCCCAGTATAGAGAAGCAGTGAGATACAGGAAACAAGCACTGACCAT
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CGCCACTGCACTCCAGCTTGGGGGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAGGCAGTCAGTGAGGTAGGGAGCAGCAGCCCCTGAGGGGTAGACAGTGATCCAAGCATCTGCTGGAGCTCACACCCTGGATTCTGACTGCCTCATACCCACCATACTGTTAGGACATGCTTCCATTACCCAAGGGACTTTGATTCCTGGCCCCATTCTCTGCTTCCTGAAAGACTAGCTAACACTACGCGAGGGTTCCATGAAGGGCCTGTGGGGGAAGGTGGGTGGACTGCTTATCAGCAGTGGCTACTGTAGATGGTGCCCAAGGATGCACCAGGCCTTACTGTGCCTGGCTAAGGTGGGCTTGAAACATTGGCTGGTCTGTGAAATGCCCTTGGGGGACGGTGTCCAGACCCTCTGCTTTGTGACTAACATGCAGACTGAATAAACTGCATGTTTATTCCAGGCTCGTTTAGCTGGACGAGCAGTACAGACAGGGCTGAGGCTGACTCCATGGCCATGTGGGCAGAGGTCAAACCCATGATCTCTCTTCCTACAGCTTCCTAATGTCTGCGATGTTGGTCTTTTGAAGGAGGCCCCCACAGAGCTGAGCTTGCTTGGTTATCTGGGACTGCTGCTCAGTCTGAGTAGGGGAGGGTAATGAACCAGTCAGGCCTCCTCCTGGAGGTGCCCAACACTGGCCTAGTCCCCAAGGCTGACGAAACATGGTCTGGCCTGACCCCAGGACGTGGGGTGAGGAGGAACACTGGGCATAATATAGTAGCGGAAACAGGCAAGCCTCTATGGGTCCCTTCCCCTTAGAATTTTAGGGTAGGGAACGAGGAGGCTACAGACTAAATTGCAGAACTATCTGCACCTGGGCCTCTGAGCTCTTCCTCCACTCCCAGTGGAGCCATTCTGGGGACTGAGTTGCATGAGGACTAGCAGAGGGTGGCAGTTCAGTCTGGTCCCTGTCTTCTTCCAGCCAGCTGTGTTCTTAGCTGCCATACTTCTGAGCTTCCTGGGAACATGAGAAAGTCTGGCGACTATGGGGGATGGGGATCATTCTGAAGGAAATAAGGGACCTCCATCCCTCCTTGCCTTGAAGGGGGTGGAAAGGCAGCTCCTCTCCTGAAGGCTTGTTAGCAGGTTATGGGCCCACAACAAAGGGGCCAGAGTAGGGCGAAATTCCTCCTTCAGGTTTTGGGGCTGAGAAGGGGTCTTCATGGGCTGTGAGGAGGTAAGCAGGCCTGAGACTGGGTAGAGATGGGAGCGGCATGAGGGGAAGGTAAGTCAGTTGCCATGCCACAGCCAAGGGGCCTTTATTGGATGGTGAGGGCACATAGGAGCAGGCAGGTGGCTGCTAGATGGTGTTGCACACCTTCTCAGGGTGCAGTGGTGCCCGGATGTCCAGTCTGCGAGTCTTGCTGTCCTTGTCGATGATCTCCAGACGCAGCTTGGGGAGGCGCTTCTCAGCCTGGGGTGAGGGCAGTTCTGGGCTTTTGAGTAGCTGCTTGTCTGAGTCCTCCACCGTGATGCGCAAAGTACAGCCCCCTGGCAGCAGGTCCTGCTCATAGGCTGCTGCCAGCTGGTTCACCACACGGCGTTCTACCTGTCGGTGGGGAGGTGAAGTGGTCACTCCCTCGGCCTGGACCCAGCTTGGAGGTCGGCCTCCATCACTTACTGCTAGGGCAACTCAGAGACCTCCTTTGAGCCTGAGCCTCAGCTTTCTCATTTGCCAATTGGGGCTAATAACAGCTAGCTCGCAGGACTGCGCTCAAGTTTCTGAGGCTCCCAGCCCAGTTCCCTGGTCCTAGTGGGGTTCATACTGGGCTACCCTCCAGCAGGGGTTTTACTTGGTGATCATGTGTTTATGGTTCTGAATGGGCATCCACTCTGGGTGTGAATATCCAGCAACCAAGCTATAGGGAGGCAGGCTGAGAGCTCAGGGACTGGGTCTGGGGGGCCCTGGGGAGGGAGGTGTGGAGGCGCCTCATTTCTCAGGCTCCTGTGCTCACCTCATGTTTGATGGAGCGGGCGCCACAGTGCACATTGTAGCCGTCGACCAGCACATCTGCCACCTCGCGGTCCCAGAGCAGCGTGATGTTGTGCCTTTGCTTGGCCTGAGATGGGTCAGATAGAAGCATGCCTGCATGTGGCCCACTGCTTTCCATCTCTTGCCACTCTGGCCTGAGGCCAGGGCCACTGGCCCCACACCACTGTGCTCCACCTTTTATGTGTGTGGGGGTGCCCCCAGTCCAGTGTTCCAGATTTCCAGTGGCTGGCTATCCCGCCCCCACCCATGGGCAGTTCCCTCTTACTCTCTTGGCCCAGAAGTTTAGTTCCTTGTTGACGAGTTGGATGAGCTCCGAGTGGCAGAAGGGGAGGAAGTAGACGATCTCATTGATCCGTCCCAGAAACTCATCCCTCCGGAAGTGAGCCTGAAGGGCCAGGTTAGGGGTGGGATGAGCTCAGTGACCCAGAGCGGGTTAGGGAAATTACCAGACACCAGGGGAAGACTGGGGAAATTATGGGGCTTCCAGATCTTTAGGATGGCTAAGATCACCCTCCCCCAACCTTAGGCTCCAGCAGGAAGTGCCAAGAAAGACCTCTTACTTTCAGGATAGGGCGAATCACATTCTCCTTGAAGTTCTTTGAGATGGTGATCTTGTCACTTATCTGGACATCCCCTGTGGAGAAGAATCATAAACTGCTTATTCCCCACATTCAGGGAACTTTGGGGGCTGTGCCTGCCCCTTGGCCTGCCCATGGAAAGAGCCCTGGTCCTGTCCATCTGTGTGGTCCTGGTCAAGGTCTAAGGCTCTCTGGGCTTCAGCCTGGTCTCCTCCTCTGACCAGGCACTTTCGGAGGCCTTTCCAGCTCTCAAGTGTATGAAGTCTGCGATTCCTCAGGGTGGGAGTTGTGTGAGGGAGGGAGAGGAGAGGAAACGTCAGGATTAAGACTTGAGTCCTGACTTGGAGGAAGGGGGCTGCAGGGCTCGATCTTGAATGGAAAAGGTGACAGACACAGCTTCCTGCCGGATGTGCTCCTTTTTTTCAGCACTCTCCATGGCCCACCTACGCAGGAAGCTGCCCTGGGTGAACAAGGCTGTGTCCACTGCCATAGAGTTTTCGATCTGCTGTCCCCTTCTTGCACCAAAGCATCTGTGTCTCTTGCATGTGCATCTCCTCAGTCCCCTAAGACACTGAGCAGCTTCTGGCCCCCCACCCTGGTGTAGCTCTGTCCATTCCTGCCTGGAGCCCTCTTATCACCCAACAGACTTGAGGCTTTCTTGAAGTGGGGTCTCTGTCTCTTTTGTCTCAACCCCCACTACTTGGTATGGTGTCTGATATCTGCTCAGTGTCAGCTAGGGACAGAGCTGCCCACTAGAACCTTCACCTGGGCCCAGGGCCCCAATCCCATCCTTCCCCAGGAGATAGGCTGGTGGCTTGGTCACTGGACCAGACTGCTCAGGTCAGCCGCCATACCCAGGTTTTCGGCAATACGGTTACGGCTCATCTCCAAAGCTTCCTGCCTCAGCTGCAGCGCGTGCTGTGCGATCTCGTCGCTGGCCACATTGGAGGTCATGATGAAGATGGCGTCCTTGCAATCAATGGTCTTCCCTTTTCCATCTGTCAGCCGGCCCTGGGAAGGGAAGGAAGGGAGTGTACAGTCAGGGAGCTATGTGCCTGGGCAGGCCTTAGCACTCTCAGTTCTCACCTCCTTCAGGAGGCCTCCCCAGAGCCCTGTGTCTCCCTCCAGCCCCAGCAGCCAGCTGCTTCCTCCTCTGGGTTCTCCGAGCACTAGACTTGCACCTTGGCTGCTGTGCTCACCGCCCTGCGCTGCAACTGCTCTCCCTACTGAGTGCCTCCAGGTGAGGCTGCAGTTGCTCTCTGGCATCTCTTGGGGCACCCAACTATCCCTGGCATGCAGAAGTCAGTCACAGTTAGCCATTCATTTGTGCAACCAACACATTTTTTGGAGGCCCGCTGTGGGCCAGGATCTGTGGTGGGGTACTGGGGTCCCACTGAGCCTACAACATGCTCCCAGTATAGAGAAGCAGTGAGATACAGGAAACAAGCACTGACCAT
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Task1_train_16275
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This alteration occurs within gene CLPB (ClpB family mitochondrial disaggregase) located on Chromosome 11. Is it associated with a disease or is it a benign variant?
|
Pathogenic; 3-methylglutaconic aciduria, type VIIB
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AGGTAGGGAGCAGCAGCCCCTGAGGGGTAGACAGTGATCCAAGCATCTGCTGGAGCTCACACCCTGGATTCTGACTGCCTCATACCCACCATACTGTTAGGACATGCTTCCATTACCCAAGGGACTTTGATTCCTGGCCCCATTCTCTGCTTCCTGAAAGACTAGCTAACACTACGCGAGGGTTCCATGAAGGGCCTGTGGGGGAAGGTGGGTGGACTGCTTATCAGCAGTGGCTACTGTAGATGGTGCCCAAGGATGCACCAGGCCTTACTGTGCCTGGCTAAGGTGGGCTTGAAACATTGGCTGGTCTGTGAAATGCCCTTGGGGGACGGTGTCCAGACCCTCTGCTTTGTGACTAACATGCAGACTGAATAAACTGCATGTTTATTCCAGGCTCGTTTAGCTGGACGAGCAGTACAGACAGGGCTGAGGCTGACTCCATGGCCATGTGGGCAGAGGTCAAACCCATGATCTCTCTTCCTACAGCTTCCTAATGTCTGCGATGTTGGTCTTTTGAAGGAGGCCCCCACAGAGCTGAGCTTGCTTGGTTATCTGGGACTGCTGCTCAGTCTGAGTAGGGGAGGGTAATGAACCAGTCAGGCCTCCTCCTGGAGGTGCCCAACACTGGCCTAGTCCCCAAGGCTGACGAAACATGGTCTGGCCTGACCCCAGGACGTGGGGTGAGGAGGAACACTGGGCATAATATAGTAGCGGAAACAGGCAAGCCTCTATGGGTCCCTTCCCCTTAGAATTTTAGGGTAGGGAACGAGGAGGCTACAGACTAAATTGCAGAACTATCTGCACCTGGGCCTCTGAGCTCTTCCTCCACTCCCAGTGGAGCCATTCTGGGGACTGAGTTGCATGAGGACTAGCAGAGGGTGGCAGTTCAGTCTGGTCCCTGTCTTCTTCCAGCCAGCTGTGTTCTTAGCTGCCATACTTCTGAGCTTCCTGGGAACATGAGAAAGTCTGGCGACTATGGGGGATGGGGATCATTCTGAAGGAAATAAGGGACCTCCATCCCTCCTTGCCTTGAAGGGGGTGGAAAGGCAGCTCCTCTCCTGAAGGCTTGTTAGCAGGTTATGGGCCCACAACAAAGGGGCCAGAGTAGGGCGAAATTCCTCCTTCAGGTTTTGGGGCTGAGAAGGGGTCTTCATGGGCTGTGAGGAGGTAAGCAGGCCTGAGACTGGGTAGAGATGGGAGCGGCATGAGGGGAAGGTAAGTCAGTTGCCATGCCACAGCCAAGGGGCCTTTATTGGATGGTGAGGGCACATAGGAGCAGGCAGGTGGCTGCTAGATGGTGTTGCACACCTTCTCAGGGTGCAGTGGTGCCCGGATGTCCAGTCTGCGAGTCTTGCTGTCCTTGTCGATGATCTCCAGACGCAGCTTGGGGAGGCGCTTCTCAGCCTGGGGTGAGGGCAGTTCTGGGCTTTTGAGTAGCTGCTTGTCTGAGTCCTCCACCGTGATGCGCAAAGTACAGCCCCCTGGCAGCAGGTCCTGCTCATAGGCTGCTGCCAGCTGGTTCACCACACGGCGTTCTACCTGTCGGTGGGGAGGTGAAGTGGTCACTCCCTCGGCCTGGACCCAGCTTGGAGGTCGGCCTCCATCACTTACTGCTAGGGCAACTCAGAGACCTCCTTTGAGCCTGAGCCTCAGCTTTCTCATTTGCCAATTGGGGCTAATAACAGCTAGCTCGCAGGACTGCGCTCAAGTTTCTGAGGCTCCCAGCCCAGTTCCCTGGTCCTAGTGGGGTTCATACTGGGCTACCCTCCAGCAGGGGTTTTACTTGGTGATCATGTGTTTATGGTTCTGAATGGGCATCCACTCTGGGTGTGAATATCCAGCAACCAAGCTATAGGGAGGCAGGCTGAGAGCTCAGGGACTGGGTCTGGGGGGCCCTGGGGAGGGAGGTGTGGAGGCGCCTCATTTCTCAGGCTCCTGTGCTCACCTCATGTTTGATGGAGCGGGCGCCATAGTGCACATTGTAGCCGTCGACCAGCACATCTGCCACCTCGCGGTCCCAGAGCAGCGTGATGTTGTGCCTTTGCTTGGCCTGAGATGGGTCAGATAGAAGCATGCCTGCATGTGGCCCACTGCTTTCCATCTCTTGCCACTCTGGCCTGAGGCCAGGGCCACTGGCCCCACACCACTGTGCTCCACCTTTTATGTGTGTGGGGGTGCCCCCAGTCCAGTGTTCCAGATTTCCAGTGGCTGGCTATCCCGCCCCCACCCATGGGCAGTTCCCTCTTACTCTCTTGGCCCAGAAGTTTAGTTCCTTGTTGACGAGTTGGATGAGCTCCGAGTGGCAGAAGGGGAGGAAGTAGACGATCTCATTGATCCGTCCCAGAAACTCATCCCTCCGGAAGTGAGCCTGAAGGGCCAGGTTAGGGGTGGGATGAGCTCAGTGACCCAGAGCGGGTTAGGGAAATTACCAGACACCAGGGGAAGACTGGGGAAATTATGGGGCTTCCAGATCTTTAGGATGGCTAAGATCACCCTCCCCCAACCTTAGGCTCCAGCAGGAAGTGCCAAGAAAGACCTCTTACTTTCAGGATAGGGCGAATCACATTCTCCTTGAAGTTCTTTGAGATGGTGATCTTGTCACTTATCTGGACATCCCCTGTGGAGAAGAATCATAAACTGCTTATTCCCCACATTCAGGGAACTTTGGGGGCTGTGCCTGCCCCTTGGCCTGCCCATGGAAAGAGCCCTGGTCCTGTCCATCTGTGTGGTCCTGGTCAAGGTCTAAGGCTCTCTGGGCTTCAGCCTGGTCTCCTCCTCTGACCAGGCACTTTCGGAGGCCTTTCCAGCTCTCAAGTGTATGAAGTCTGCGATTCCTCAGGGTGGGAGTTGTGTGAGGGAGGGAGAGGAGAGGAAACGTCAGGATTAAGACTTGAGTCCTGACTTGGAGGAAGGGGGCTGCAGGGCTCGATCTTGAATGGAAAAGGTGACAGACACAGCTTCCTGCCGGATGTGCTCCTTTTTTTCAGCACTCTCCATGGCCCACCTACGCAGGAAGCTGCCCTGGGTGAACAAGGCTGTGTCCACTGCCATAGAGTTTTCGATCTGCTGTCCCCTTCTTGCACCAAAGCATCTGTGTCTCTTGCATGTGCATCTCCTCAGTCCCCTAAGACACTGAGCAGCTTCTGGCCCCCCACCCTGGTGTAGCTCTGTCCATTCCTGCCTGGAGCCCTCTTATCACCCAACAGACTTGAGGCTTTCTTGAAGTGGGGTCTCTGTCTCTTTTGTCTCAACCCCCACTACTTGGTATGGTGTCTGATATCTGCTCAGTGTCAGCTAGGGACAGAGCTGCCCACTAGAACCTTCACCTGGGCCCAGGGCCCCAATCCCATCCTTCCCCAGGAGATAGGCTGGTGGCTTGGTCACTGGACCAGACTGCTCAGGTCAGCCGCCATACCCAGGTTTTCGGCAATACGGTTACGGCTCATCTCCAAAGCTTCCTGCCTCAGCTGCAGCGCGTGCTGTGCGATCTCGTCGCTGGCCACATTGGAGGTCATGATGAAGATGGCGTCCTTGCAATCAATGGTCTTCCCTTTTCCATCTGTCAGCCGGCCCTGGGAAGGGAAGGAAGGGAGTGTACAGTCAGGGAGCTATGTGCCTGGGCAGGCCTTAGCACTCTCAGTTCTCACCTCCTTCAGGAGGCCTCCCCAGAGCCCTGTGTCTCCCTCCAGCCCCAGCAGCCAGCTGCTTCCTCCTCTGGGTTCTCCGAGCACTAGACTTGCACCTTGGCTGCTGTGCTCACCGCCCTGCGCTGCAACTGCTCTCCCTACTGAGTGCCTCCAGGTGAGGCTGCAGTTGCTCTCTGGCATCTCTTGGGGCACCCAACTATCCCTGGCATGCAGAAGTCAGTCACAGTTAGCCATTCATTTGTGCAACCAACACATTTTTTGGAGGCCCGCTGTGGGCCAGGATCTGTGGTGGGGTACTGGGGTCCCACTGAGCCTACAACATGCTCCCAGTATAGAGAAGCAGTGAGATACAGGAAACAAGCACTGACCATCCAATATGTTACGTATGATAATAAAGGGAAGCCCAGCATGCTGCAGGAATTCAGAGGAGGGTACTTTACATGGCTACT
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AGGTAGGGAGCAGCAGCCCCTGAGGGGTAGACAGTGATCCAAGCATCTGCTGGAGCTCACACCCTGGATTCTGACTGCCTCATACCCACCATACTGTTAGGACATGCTTCCATTACCCAAGGGACTTTGATTCCTGGCCCCATTCTCTGCTTCCTGAAAGACTAGCTAACACTACGCGAGGGTTCCATGAAGGGCCTGTGGGGGAAGGTGGGTGGACTGCTTATCAGCAGTGGCTACTGTAGATGGTGCCCAAGGATGCACCAGGCCTTACTGTGCCTGGCTAAGGTGGGCTTGAAACATTGGCTGGTCTGTGAAATGCCCTTGGGGGACGGTGTCCAGACCCTCTGCTTTGTGACTAACATGCAGACTGAATAAACTGCATGTTTATTCCAGGCTCGTTTAGCTGGACGAGCAGTACAGACAGGGCTGAGGCTGACTCCATGGCCATGTGGGCAGAGGTCAAACCCATGATCTCTCTTCCTACAGCTTCCTAATGTCTGCGATGTTGGTCTTTTGAAGGAGGCCCCCACAGAGCTGAGCTTGCTTGGTTATCTGGGACTGCTGCTCAGTCTGAGTAGGGGAGGGTAATGAACCAGTCAGGCCTCCTCCTGGAGGTGCCCAACACTGGCCTAGTCCCCAAGGCTGACGAAACATGGTCTGGCCTGACCCCAGGACGTGGGGTGAGGAGGAACACTGGGCATAATATAGTAGCGGAAACAGGCAAGCCTCTATGGGTCCCTTCCCCTTAGAATTTTAGGGTAGGGAACGAGGAGGCTACAGACTAAATTGCAGAACTATCTGCACCTGGGCCTCTGAGCTCTTCCTCCACTCCCAGTGGAGCCATTCTGGGGACTGAGTTGCATGAGGACTAGCAGAGGGTGGCAGTTCAGTCTGGTCCCTGTCTTCTTCCAGCCAGCTGTGTTCTTAGCTGCCATACTTCTGAGCTTCCTGGGAACATGAGAAAGTCTGGCGACTATGGGGGATGGGGATCATTCTGAAGGAAATAAGGGACCTCCATCCCTCCTTGCCTTGAAGGGGGTGGAAAGGCAGCTCCTCTCCTGAAGGCTTGTTAGCAGGTTATGGGCCCACAACAAAGGGGCCAGAGTAGGGCGAAATTCCTCCTTCAGGTTTTGGGGCTGAGAAGGGGTCTTCATGGGCTGTGAGGAGGTAAGCAGGCCTGAGACTGGGTAGAGATGGGAGCGGCATGAGGGGAAGGTAAGTCAGTTGCCATGCCACAGCCAAGGGGCCTTTATTGGATGGTGAGGGCACATAGGAGCAGGCAGGTGGCTGCTAGATGGTGTTGCACACCTTCTCAGGGTGCAGTGGTGCCCGGATGTCCAGTCTGCGAGTCTTGCTGTCCTTGTCGATGATCTCCAGACGCAGCTTGGGGAGGCGCTTCTCAGCCTGGGGTGAGGGCAGTTCTGGGCTTTTGAGTAGCTGCTTGTCTGAGTCCTCCACCGTGATGCGCAAAGTACAGCCCCCTGGCAGCAGGTCCTGCTCATAGGCTGCTGCCAGCTGGTTCACCACACGGCGTTCTACCTGTCGGTGGGGAGGTGAAGTGGTCACTCCCTCGGCCTGGACCCAGCTTGGAGGTCGGCCTCCATCACTTACTGCTAGGGCAACTCAGAGACCTCCTTTGAGCCTGAGCCTCAGCTTTCTCATTTGCCAATTGGGGCTAATAACAGCTAGCTCGCAGGACTGCGCTCAAGTTTCTGAGGCTCCCAGCCCAGTTCCCTGGTCCTAGTGGGGTTCATACTGGGCTACCCTCCAGCAGGGGTTTTACTTGGTGATCATGTGTTTATGGTTCTGAATGGGCATCCACTCTGGGTGTGAATATCCAGCAACCAAGCTATAGGGAGGCAGGCTGAGAGCTCAGGGACTGGGTCTGGGGGGCCCTGGGGAGGGAGGTGTGGAGGCGCCTCATTTCTCAGGCTCCTGTGCTCACCTCATGTTTGATGGAGCGGGCGCCATAGTGCACATTGTAGCCGTCGACCAGCACATCTGCCACCTCGCGGTCCCAGAGCAGCGTGATGTTGTGCCTTTGCTTGACCTGAGATGGGTCAGATAGAAGCATGCCTGCATGTGGCCCACTGCTTTCCATCTCTTGCCACTCTGGCCTGAGGCCAGGGCCACTGGCCCCACACCACTGTGCTCCACCTTTTATGTGTGTGGGGGTGCCCCCAGTCCAGTGTTCCAGATTTCCAGTGGCTGGCTATCCCGCCCCCACCCATGGGCAGTTCCCTCTTACTCTCTTGGCCCAGAAGTTTAGTTCCTTGTTGACGAGTTGGATGAGCTCCGAGTGGCAGAAGGGGAGGAAGTAGACGATCTCATTGATCCGTCCCAGAAACTCATCCCTCCGGAAGTGAGCCTGAAGGGCCAGGTTAGGGGTGGGATGAGCTCAGTGACCCAGAGCGGGTTAGGGAAATTACCAGACACCAGGGGAAGACTGGGGAAATTATGGGGCTTCCAGATCTTTAGGATGGCTAAGATCACCCTCCCCCAACCTTAGGCTCCAGCAGGAAGTGCCAAGAAAGACCTCTTACTTTCAGGATAGGGCGAATCACATTCTCCTTGAAGTTCTTTGAGATGGTGATCTTGTCACTTATCTGGACATCCCCTGTGGAGAAGAATCATAAACTGCTTATTCCCCACATTCAGGGAACTTTGGGGGCTGTGCCTGCCCCTTGGCCTGCCCATGGAAAGAGCCCTGGTCCTGTCCATCTGTGTGGTCCTGGTCAAGGTCTAAGGCTCTCTGGGCTTCAGCCTGGTCTCCTCCTCTGACCAGGCACTTTCGGAGGCCTTTCCAGCTCTCAAGTGTATGAAGTCTGCGATTCCTCAGGGTGGGAGTTGTGTGAGGGAGGGAGAGGAGAGGAAACGTCAGGATTAAGACTTGAGTCCTGACTTGGAGGAAGGGGGCTGCAGGGCTCGATCTTGAATGGAAAAGGTGACAGACACAGCTTCCTGCCGGATGTGCTCCTTTTTTTCAGCACTCTCCATGGCCCACCTACGCAGGAAGCTGCCCTGGGTGAACAAGGCTGTGTCCACTGCCATAGAGTTTTCGATCTGCTGTCCCCTTCTTGCACCAAAGCATCTGTGTCTCTTGCATGTGCATCTCCTCAGTCCCCTAAGACACTGAGCAGCTTCTGGCCCCCCACCCTGGTGTAGCTCTGTCCATTCCTGCCTGGAGCCCTCTTATCACCCAACAGACTTGAGGCTTTCTTGAAGTGGGGTCTCTGTCTCTTTTGTCTCAACCCCCACTACTTGGTATGGTGTCTGATATCTGCTCAGTGTCAGCTAGGGACAGAGCTGCCCACTAGAACCTTCACCTGGGCCCAGGGCCCCAATCCCATCCTTCCCCAGGAGATAGGCTGGTGGCTTGGTCACTGGACCAGACTGCTCAGGTCAGCCGCCATACCCAGGTTTTCGGCAATACGGTTACGGCTCATCTCCAAAGCTTCCTGCCTCAGCTGCAGCGCGTGCTGTGCGATCTCGTCGCTGGCCACATTGGAGGTCATGATGAAGATGGCGTCCTTGCAATCAATGGTCTTCCCTTTTCCATCTGTCAGCCGGCCCTGGGAAGGGAAGGAAGGGAGTGTACAGTCAGGGAGCTATGTGCCTGGGCAGGCCTTAGCACTCTCAGTTCTCACCTCCTTCAGGAGGCCTCCCCAGAGCCCTGTGTCTCCCTCCAGCCCCAGCAGCCAGCTGCTTCCTCCTCTGGGTTCTCCGAGCACTAGACTTGCACCTTGGCTGCTGTGCTCACCGCCCTGCGCTGCAACTGCTCTCCCTACTGAGTGCCTCCAGGTGAGGCTGCAGTTGCTCTCTGGCATCTCTTGGGGCACCCAACTATCCCTGGCATGCAGAAGTCAGTCACAGTTAGCCATTCATTTGTGCAACCAACACATTTTTTGGAGGCCCGCTGTGGGCCAGGATCTGTGGTGGGGTACTGGGGTCCCACTGAGCCTACAACATGCTCCCAGTATAGAGAAGCAGTGAGATACAGGAAACAAGCACTGACCATCCAATATGTTACGTATGATAATAAAGGGAAGCCCAGCATGCTGCAGGAATTCAGAGGAGGGTACTTTACATGGCTACT
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Task1_train_16276
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This is a variant in CLPB (ClpB family mitochondrial disaggregase), located on Chromosome 11. Is this mutation a likely cause of disease or not?
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Pathogenic; Neutropenia, severe congenital, 9, autosomal dominant
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GCTTGAAACATTGGCTGGTCTGTGAAATGCCCTTGGGGGACGGTGTCCAGACCCTCTGCTTTGTGACTAACATGCAGACTGAATAAACTGCATGTTTATTCCAGGCTCGTTTAGCTGGACGAGCAGTACAGACAGGGCTGAGGCTGACTCCATGGCCATGTGGGCAGAGGTCAAACCCATGATCTCTCTTCCTACAGCTTCCTAATGTCTGCGATGTTGGTCTTTTGAAGGAGGCCCCCACAGAGCTGAGCTTGCTTGGTTATCTGGGACTGCTGCTCAGTCTGAGTAGGGGAGGGTAATGAACCAGTCAGGCCTCCTCCTGGAGGTGCCCAACACTGGCCTAGTCCCCAAGGCTGACGAAACATGGTCTGGCCTGACCCCAGGACGTGGGGTGAGGAGGAACACTGGGCATAATATAGTAGCGGAAACAGGCAAGCCTCTATGGGTCCCTTCCCCTTAGAATTTTAGGGTAGGGAACGAGGAGGCTACAGACTAAATTGCAGAACTATCTGCACCTGGGCCTCTGAGCTCTTCCTCCACTCCCAGTGGAGCCATTCTGGGGACTGAGTTGCATGAGGACTAGCAGAGGGTGGCAGTTCAGTCTGGTCCCTGTCTTCTTCCAGCCAGCTGTGTTCTTAGCTGCCATACTTCTGAGCTTCCTGGGAACATGAGAAAGTCTGGCGACTATGGGGGATGGGGATCATTCTGAAGGAAATAAGGGACCTCCATCCCTCCTTGCCTTGAAGGGGGTGGAAAGGCAGCTCCTCTCCTGAAGGCTTGTTAGCAGGTTATGGGCCCACAACAAAGGGGCCAGAGTAGGGCGAAATTCCTCCTTCAGGTTTTGGGGCTGAGAAGGGGTCTTCATGGGCTGTGAGGAGGTAAGCAGGCCTGAGACTGGGTAGAGATGGGAGCGGCATGAGGGGAAGGTAAGTCAGTTGCCATGCCACAGCCAAGGGGCCTTTATTGGATGGTGAGGGCACATAGGAGCAGGCAGGTGGCTGCTAGATGGTGTTGCACACCTTCTCAGGGTGCAGTGGTGCCCGGATGTCCAGTCTGCGAGTCTTGCTGTCCTTGTCGATGATCTCCAGACGCAGCTTGGGGAGGCGCTTCTCAGCCTGGGGTGAGGGCAGTTCTGGGCTTTTGAGTAGCTGCTTGTCTGAGTCCTCCACCGTGATGCGCAAAGTACAGCCCCCTGGCAGCAGGTCCTGCTCATAGGCTGCTGCCAGCTGGTTCACCACACGGCGTTCTACCTGTCGGTGGGGAGGTGAAGTGGTCACTCCCTCGGCCTGGACCCAGCTTGGAGGTCGGCCTCCATCACTTACTGCTAGGGCAACTCAGAGACCTCCTTTGAGCCTGAGCCTCAGCTTTCTCATTTGCCAATTGGGGCTAATAACAGCTAGCTCGCAGGACTGCGCTCAAGTTTCTGAGGCTCCCAGCCCAGTTCCCTGGTCCTAGTGGGGTTCATACTGGGCTACCCTCCAGCAGGGGTTTTACTTGGTGATCATGTGTTTATGGTTCTGAATGGGCATCCACTCTGGGTGTGAATATCCAGCAACCAAGCTATAGGGAGGCAGGCTGAGAGCTCAGGGACTGGGTCTGGGGGGCCCTGGGGAGGGAGGTGTGGAGGCGCCTCATTTCTCAGGCTCCTGTGCTCACCTCATGTTTGATGGAGCGGGCGCCATAGTGCACATTGTAGCCGTCGACCAGCACATCTGCCACCTCGCGGTCCCAGAGCAGCGTGATGTTGTGCCTTTGCTTGGCCTGAGATGGGTCAGATAGAAGCATGCCTGCATGTGGCCCACTGCTTTCCATCTCTTGCCACTCTGGCCTGAGGCCAGGGCCACTGGCCCCACACCACTGTGCTCCACCTTTTATGTGTGTGGGGGTGCCCCCAGTCCAGTGTTCCAGATTTCCAGTGGCTGGCTATCCCGCCCCCACCCATGGGCAGTTCCCTCTTACTCTCTTGGCCCAGAAGTTTAGTTCCTTGTTGACGAGTTGGATGAGCTCCGAGTGGCAGAAGGGGAGGAAGTAGACGATCTCATTGATCCGTCCCAGAAACTCATCCCTCCGGAAGTGAGCCTGAAGGGCCAGGTTAGGGGTGGGATGAGCTCAGTGACCCAGAGCGGGTTAGGGAAATTACCAGACACCAGGGGAAGACTGGGGAAATTATGGGGCTTCCAGATCTTTAGGATGGCTAAGATCACCCTCCCCCAACCTTAGGCTCCAGCAGGAAGTGCCAAGAAAGACCTCTTACTTTCAGGATAGGGCGAATCACATTCTCCTTGAAGTTCTTTGAGATGGTGATCTTGTCACTTATCTGGACATCCCCTGTGGAGAAGAATCATAAACTGCTTATTCCCCACATTCAGGGAACTTTGGGGGCTGTGCCTGCCCCTTGGCCTGCCCATGGAAAGAGCCCTGGTCCTGTCCATCTGTGTGGTCCTGGTCAAGGTCTAAGGCTCTCTGGGCTTCAGCCTGGTCTCCTCCTCTGACCAGGCACTTTCGGAGGCCTTTCCAGCTCTCAAGTGTATGAAGTCTGCGATTCCTCAGGGTGGGAGTTGTGTGAGGGAGGGAGAGGAGAGGAAACGTCAGGATTAAGACTTGAGTCCTGACTTGGAGGAAGGGGGCTGCAGGGCTCGATCTTGAATGGAAAAGGTGACAGACACAGCTTCCTGCCGGATGTGCTCCTTTTTTTCAGCACTCTCCATGGCCCACCTACGCAGGAAGCTGCCCTGGGTGAACAAGGCTGTGTCCACTGCCATAGAGTTTTCGATCTGCTGTCCCCTTCTTGCACCAAAGCATCTGTGTCTCTTGCATGTGCATCTCCTCAGTCCCCTAAGACACTGAGCAGCTTCTGGCCCCCCACCCTGGTGTAGCTCTGTCCATTCCTGCCTGGAGCCCTCTTATCACCCAACAGACTTGAGGCTTTCTTGAAGTGGGGTCTCTGTCTCTTTTGTCTCAACCCCCACTACTTGGTATGGTGTCTGATATCTGCTCAGTGTCAGCTAGGGACAGAGCTGCCCACTAGAACCTTCACCTGGGCCCAGGGCCCCAATCCCATCCTTCCCCAGGAGATAGGCTGGTGGCTTGGTCACTGGACCAGACTGCTCAGGTCAGCCGCCATACCCAGGTTTTCGGCAATACGGTTACGGCTCATCTCCAAAGCTTCCTGCCTCAGCTGCAGCGCGTGCTGTGCGATCTCGTCGCTGGCCACATTGGAGGTCATGATGAAGATGGCGTCCTTGCAATCAATGGTCTTCCCTTTTCCATCTGTCAGCCGGCCCTGGGAAGGGAAGGAAGGGAGTGTACAGTCAGGGAGCTATGTGCCTGGGCAGGCCTTAGCACTCTCAGTTCTCACCTCCTTCAGGAGGCCTCCCCAGAGCCCTGTGTCTCCCTCCAGCCCCAGCAGCCAGCTGCTTCCTCCTCTGGGTTCTCCGAGCACTAGACTTGCACCTTGGCTGCTGTGCTCACCGCCCTGCGCTGCAACTGCTCTCCCTACTGAGTGCCTCCAGGTGAGGCTGCAGTTGCTCTCTGGCATCTCTTGGGGCACCCAACTATCCCTGGCATGCAGAAGTCAGTCACAGTTAGCCATTCATTTGTGCAACCAACACATTTTTTGGAGGCCCGCTGTGGGCCAGGATCTGTGGTGGGGTACTGGGGTCCCACTGAGCCTACAACATGCTCCCAGTATAGAGAAGCAGTGAGATACAGGAAACAAGCACTGACCATCCAATATGTTACGTATGATAATAAAGGGAAGCCCAGCATGCTGCAGGAATTCAGAGGAGGGTACTTTACATGGCTACTGTCAGGACTAGATGTGGTTATCTGGTGAAAATTCTTAGTAAACCATGCTGTTCAAATGTTCAGAGCTATTATTACTGTAGTAGGTGATATATAATGAAACAGGACAACCTCTTTTATCTTTGGAGCTGCCGCCTGGCCTAACAGGGATAAAAAATGAGATTGCTTCTTTAACCACCTTGGGAAGTTTCCTTGGAATCTTCAGCTCTTTCTAGAAGGGACAAAGGAGGCATCTATACTGGAGAAAGATGCACCAAAGAAGGAGAAAAGGAGCAAACAGTATAGGGCAGAG
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GCTTGAAACATTGGCTGGTCTGTGAAATGCCCTTGGGGGACGGTGTCCAGACCCTCTGCTTTGTGACTAACATGCAGACTGAATAAACTGCATGTTTATTCCAGGCTCGTTTAGCTGGACGAGCAGTACAGACAGGGCTGAGGCTGACTCCATGGCCATGTGGGCAGAGGTCAAACCCATGATCTCTCTTCCTACAGCTTCCTAATGTCTGCGATGTTGGTCTTTTGAAGGAGGCCCCCACAGAGCTGAGCTTGCTTGGTTATCTGGGACTGCTGCTCAGTCTGAGTAGGGGAGGGTAATGAACCAGTCAGGCCTCCTCCTGGAGGTGCCCAACACTGGCCTAGTCCCCAAGGCTGACGAAACATGGTCTGGCCTGACCCCAGGACGTGGGGTGAGGAGGAACACTGGGCATAATATAGTAGCGGAAACAGGCAAGCCTCTATGGGTCCCTTCCCCTTAGAATTTTAGGGTAGGGAACGAGGAGGCTACAGACTAAATTGCAGAACTATCTGCACCTGGGCCTCTGAGCTCTTCCTCCACTCCCAGTGGAGCCATTCTGGGGACTGAGTTGCATGAGGACTAGCAGAGGGTGGCAGTTCAGTCTGGTCCCTGTCTTCTTCCAGCCAGCTGTGTTCTTAGCTGCCATACTTCTGAGCTTCCTGGGAACATGAGAAAGTCTGGCGACTATGGGGGATGGGGATCATTCTGAAGGAAATAAGGGACCTCCATCCCTCCTTGCCTTGAAGGGGGTGGAAAGGCAGCTCCTCTCCTGAAGGCTTGTTAGCAGGTTATGGGCCCACAACAAAGGGGCCAGAGTAGGGCGAAATTCCTCCTTCAGGTTTTGGGGCTGAGAAGGGGTCTTCATGGGCTGTGAGGAGGTAAGCAGGCCTGAGACTGGGTAGAGATGGGAGCGGCATGAGGGGAAGGTAAGTCAGTTGCCATGCCACAGCCAAGGGGCCTTTATTGGATGGTGAGGGCACATAGGAGCAGGCAGGTGGCTGCTAGATGGTGTTGCACACCTTCTCAGGGTGCAGTGGTGCCCGGATGTCCAGTCTGCGAGTCTTGCTGTCCTTGTCGATGATCTCCAGACGCAGCTTGGGGAGGCGCTTCTCAGCCTGGGGTGAGGGCAGTTCTGGGCTTTTGAGTAGCTGCTTGTCTGAGTCCTCCACCGTGATGCGCAAAGTACAGCCCCCTGGCAGCAGGTCCTGCTCATAGGCTGCTGCCAGCTGGTTCACCACACGGCGTTCTACCTGTCGGTGGGGAGGTGAAGTGGTCACTCCCTCGGCCTGGACCCAGCTTGGAGGTCGGCCTCCATCACTTACTGCTAGGGCAACTCAGAGACCTCCTTTGAGCCTGAGCCTCAGCTTTCTCATTTGCCAATTGGGGCTAATAACAGCTAGCTCGCAGGACTGCGCTCAAGTTTCTGAGGCTCCCAGCCCAGTTCCCTGGTCCTAGTGGGGTTCATACTGGGCTACCCTCCAGCAGGGGTTTTACTTGGTGATCATGTGTTTATGGTTCTGAATGGGCATCCACTCTGGGTGTGAATATCCAGCAACCAAGCTATAGGGAGGCAGGCTGAGAGCTCAGGGACTGGGTCTGGGGGGCCCTGGGGAGGGAGGTGTGGAGGCGCCTCATTTCTCAGGCTCCTGTGCTCACCTCATGTTTGATGGAGCGGGCGCCATAGTGCACATTGTAGCCGTCGACCAGCACATCTGCCACCTCGCGGTCCCAGAGCAGCGTGATGTTGTGCCTTTGCTTGGCCTGAGATGGGTCAGATAGAAGCATGCCTGCATGTGGCCCACTGCTTTCCATCTCTTGCCACTCTGGCCTGAGGCCAGGGCCACTGGCCCCACACCACTGTGCTCCACCTTTTATGTGTGTGGGGGTGCCCCCAGTCCAGTGTTCCAGATTTCCAGTGGCTGGCTATCCCGCCCCCACCCATGGGCAGTTCCCTCTTACTCTCTTGGCCCAGAAGTTTAGTTCCTTGTTGACGAGTTGGATGAGCTCCGAGTGGCAGAAGGGGAGGAAGTAGACGATCTCATTGATCCCTCCCAGAAACTCATCCCTCCGGAAGTGAGCCTGAAGGGCCAGGTTAGGGGTGGGATGAGCTCAGTGACCCAGAGCGGGTTAGGGAAATTACCAGACACCAGGGGAAGACTGGGGAAATTATGGGGCTTCCAGATCTTTAGGATGGCTAAGATCACCCTCCCCCAACCTTAGGCTCCAGCAGGAAGTGCCAAGAAAGACCTCTTACTTTCAGGATAGGGCGAATCACATTCTCCTTGAAGTTCTTTGAGATGGTGATCTTGTCACTTATCTGGACATCCCCTGTGGAGAAGAATCATAAACTGCTTATTCCCCACATTCAGGGAACTTTGGGGGCTGTGCCTGCCCCTTGGCCTGCCCATGGAAAGAGCCCTGGTCCTGTCCATCTGTGTGGTCCTGGTCAAGGTCTAAGGCTCTCTGGGCTTCAGCCTGGTCTCCTCCTCTGACCAGGCACTTTCGGAGGCCTTTCCAGCTCTCAAGTGTATGAAGTCTGCGATTCCTCAGGGTGGGAGTTGTGTGAGGGAGGGAGAGGAGAGGAAACGTCAGGATTAAGACTTGAGTCCTGACTTGGAGGAAGGGGGCTGCAGGGCTCGATCTTGAATGGAAAAGGTGACAGACACAGCTTCCTGCCGGATGTGCTCCTTTTTTTCAGCACTCTCCATGGCCCACCTACGCAGGAAGCTGCCCTGGGTGAACAAGGCTGTGTCCACTGCCATAGAGTTTTCGATCTGCTGTCCCCTTCTTGCACCAAAGCATCTGTGTCTCTTGCATGTGCATCTCCTCAGTCCCCTAAGACACTGAGCAGCTTCTGGCCCCCCACCCTGGTGTAGCTCTGTCCATTCCTGCCTGGAGCCCTCTTATCACCCAACAGACTTGAGGCTTTCTTGAAGTGGGGTCTCTGTCTCTTTTGTCTCAACCCCCACTACTTGGTATGGTGTCTGATATCTGCTCAGTGTCAGCTAGGGACAGAGCTGCCCACTAGAACCTTCACCTGGGCCCAGGGCCCCAATCCCATCCTTCCCCAGGAGATAGGCTGGTGGCTTGGTCACTGGACCAGACTGCTCAGGTCAGCCGCCATACCCAGGTTTTCGGCAATACGGTTACGGCTCATCTCCAAAGCTTCCTGCCTCAGCTGCAGCGCGTGCTGTGCGATCTCGTCGCTGGCCACATTGGAGGTCATGATGAAGATGGCGTCCTTGCAATCAATGGTCTTCCCTTTTCCATCTGTCAGCCGGCCCTGGGAAGGGAAGGAAGGGAGTGTACAGTCAGGGAGCTATGTGCCTGGGCAGGCCTTAGCACTCTCAGTTCTCACCTCCTTCAGGAGGCCTCCCCAGAGCCCTGTGTCTCCCTCCAGCCCCAGCAGCCAGCTGCTTCCTCCTCTGGGTTCTCCGAGCACTAGACTTGCACCTTGGCTGCTGTGCTCACCGCCCTGCGCTGCAACTGCTCTCCCTACTGAGTGCCTCCAGGTGAGGCTGCAGTTGCTCTCTGGCATCTCTTGGGGCACCCAACTATCCCTGGCATGCAGAAGTCAGTCACAGTTAGCCATTCATTTGTGCAACCAACACATTTTTTGGAGGCCCGCTGTGGGCCAGGATCTGTGGTGGGGTACTGGGGTCCCACTGAGCCTACAACATGCTCCCAGTATAGAGAAGCAGTGAGATACAGGAAACAAGCACTGACCATCCAATATGTTACGTATGATAATAAAGGGAAGCCCAGCATGCTGCAGGAATTCAGAGGAGGGTACTTTACATGGCTACTGTCAGGACTAGATGTGGTTATCTGGTGAAAATTCTTAGTAAACCATGCTGTTCAAATGTTCAGAGCTATTATTACTGTAGTAGGTGATATATAATGAAACAGGACAACCTCTTTTATCTTTGGAGCTGCCGCCTGGCCTAACAGGGATAAAAAATGAGATTGCTTCTTTAACCACCTTGGGAAGTTTCCTTGGAATCTTCAGCTCTTTCTAGAAGGGACAAAGGAGGCATCTATACTGGAGAAAGATGCACCAAAGAAGGAGAAAAGGAGCAAACAGTATAGGGCAGAG
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Task1_train_16277
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A mutation on Chromosome 11 affecting CLPB (ClpB family mitochondrial disaggregase) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; 3-Methylglutaconic aciduria
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TGAAACATTGGCTGGTCTGTGAAATGCCCTTGGGGGACGGTGTCCAGACCCTCTGCTTTGTGACTAACATGCAGACTGAATAAACTGCATGTTTATTCCAGGCTCGTTTAGCTGGACGAGCAGTACAGACAGGGCTGAGGCTGACTCCATGGCCATGTGGGCAGAGGTCAAACCCATGATCTCTCTTCCTACAGCTTCCTAATGTCTGCGATGTTGGTCTTTTGAAGGAGGCCCCCACAGAGCTGAGCTTGCTTGGTTATCTGGGACTGCTGCTCAGTCTGAGTAGGGGAGGGTAATGAACCAGTCAGGCCTCCTCCTGGAGGTGCCCAACACTGGCCTAGTCCCCAAGGCTGACGAAACATGGTCTGGCCTGACCCCAGGACGTGGGGTGAGGAGGAACACTGGGCATAATATAGTAGCGGAAACAGGCAAGCCTCTATGGGTCCCTTCCCCTTAGAATTTTAGGGTAGGGAACGAGGAGGCTACAGACTAAATTGCAGAACTATCTGCACCTGGGCCTCTGAGCTCTTCCTCCACTCCCAGTGGAGCCATTCTGGGGACTGAGTTGCATGAGGACTAGCAGAGGGTGGCAGTTCAGTCTGGTCCCTGTCTTCTTCCAGCCAGCTGTGTTCTTAGCTGCCATACTTCTGAGCTTCCTGGGAACATGAGAAAGTCTGGCGACTATGGGGGATGGGGATCATTCTGAAGGAAATAAGGGACCTCCATCCCTCCTTGCCTTGAAGGGGGTGGAAAGGCAGCTCCTCTCCTGAAGGCTTGTTAGCAGGTTATGGGCCCACAACAAAGGGGCCAGAGTAGGGCGAAATTCCTCCTTCAGGTTTTGGGGCTGAGAAGGGGTCTTCATGGGCTGTGAGGAGGTAAGCAGGCCTGAGACTGGGTAGAGATGGGAGCGGCATGAGGGGAAGGTAAGTCAGTTGCCATGCCACAGCCAAGGGGCCTTTATTGGATGGTGAGGGCACATAGGAGCAGGCAGGTGGCTGCTAGATGGTGTTGCACACCTTCTCAGGGTGCAGTGGTGCCCGGATGTCCAGTCTGCGAGTCTTGCTGTCCTTGTCGATGATCTCCAGACGCAGCTTGGGGAGGCGCTTCTCAGCCTGGGGTGAGGGCAGTTCTGGGCTTTTGAGTAGCTGCTTGTCTGAGTCCTCCACCGTGATGCGCAAAGTACAGCCCCCTGGCAGCAGGTCCTGCTCATAGGCTGCTGCCAGCTGGTTCACCACACGGCGTTCTACCTGTCGGTGGGGAGGTGAAGTGGTCACTCCCTCGGCCTGGACCCAGCTTGGAGGTCGGCCTCCATCACTTACTGCTAGGGCAACTCAGAGACCTCCTTTGAGCCTGAGCCTCAGCTTTCTCATTTGCCAATTGGGGCTAATAACAGCTAGCTCGCAGGACTGCGCTCAAGTTTCTGAGGCTCCCAGCCCAGTTCCCTGGTCCTAGTGGGGTTCATACTGGGCTACCCTCCAGCAGGGGTTTTACTTGGTGATCATGTGTTTATGGTTCTGAATGGGCATCCACTCTGGGTGTGAATATCCAGCAACCAAGCTATAGGGAGGCAGGCTGAGAGCTCAGGGACTGGGTCTGGGGGGCCCTGGGGAGGGAGGTGTGGAGGCGCCTCATTTCTCAGGCTCCTGTGCTCACCTCATGTTTGATGGAGCGGGCGCCATAGTGCACATTGTAGCCGTCGACCAGCACATCTGCCACCTCGCGGTCCCAGAGCAGCGTGATGTTGTGCCTTTGCTTGGCCTGAGATGGGTCAGATAGAAGCATGCCTGCATGTGGCCCACTGCTTTCCATCTCTTGCCACTCTGGCCTGAGGCCAGGGCCACTGGCCCCACACCACTGTGCTCCACCTTTTATGTGTGTGGGGGTGCCCCCAGTCCAGTGTTCCAGATTTCCAGTGGCTGGCTATCCCGCCCCCACCCATGGGCAGTTCCCTCTTACTCTCTTGGCCCAGAAGTTTAGTTCCTTGTTGACGAGTTGGATGAGCTCCGAGTGGCAGAAGGGGAGGAAGTAGACGATCTCATTGATCCGTCCCAGAAACTCATCCCTCCGGAAGTGAGCCTGAAGGGCCAGGTTAGGGGTGGGATGAGCTCAGTGACCCAGAGCGGGTTAGGGAAATTACCAGACACCAGGGGAAGACTGGGGAAATTATGGGGCTTCCAGATCTTTAGGATGGCTAAGATCACCCTCCCCCAACCTTAGGCTCCAGCAGGAAGTGCCAAGAAAGACCTCTTACTTTCAGGATAGGGCGAATCACATTCTCCTTGAAGTTCTTTGAGATGGTGATCTTGTCACTTATCTGGACATCCCCTGTGGAGAAGAATCATAAACTGCTTATTCCCCACATTCAGGGAACTTTGGGGGCTGTGCCTGCCCCTTGGCCTGCCCATGGAAAGAGCCCTGGTCCTGTCCATCTGTGTGGTCCTGGTCAAGGTCTAAGGCTCTCTGGGCTTCAGCCTGGTCTCCTCCTCTGACCAGGCACTTTCGGAGGCCTTTCCAGCTCTCAAGTGTATGAAGTCTGCGATTCCTCAGGGTGGGAGTTGTGTGAGGGAGGGAGAGGAGAGGAAACGTCAGGATTAAGACTTGAGTCCTGACTTGGAGGAAGGGGGCTGCAGGGCTCGATCTTGAATGGAAAAGGTGACAGACACAGCTTCCTGCCGGATGTGCTCCTTTTTTTCAGCACTCTCCATGGCCCACCTACGCAGGAAGCTGCCCTGGGTGAACAAGGCTGTGTCCACTGCCATAGAGTTTTCGATCTGCTGTCCCCTTCTTGCACCAAAGCATCTGTGTCTCTTGCATGTGCATCTCCTCAGTCCCCTAAGACACTGAGCAGCTTCTGGCCCCCCACCCTGGTGTAGCTCTGTCCATTCCTGCCTGGAGCCCTCTTATCACCCAACAGACTTGAGGCTTTCTTGAAGTGGGGTCTCTGTCTCTTTTGTCTCAACCCCCACTACTTGGTATGGTGTCTGATATCTGCTCAGTGTCAGCTAGGGACAGAGCTGCCCACTAGAACCTTCACCTGGGCCCAGGGCCCCAATCCCATCCTTCCCCAGGAGATAGGCTGGTGGCTTGGTCACTGGACCAGACTGCTCAGGTCAGCCGCCATACCCAGGTTTTCGGCAATACGGTTACGGCTCATCTCCAAAGCTTCCTGCCTCAGCTGCAGCGCGTGCTGTGCGATCTCGTCGCTGGCCACATTGGAGGTCATGATGAAGATGGCGTCCTTGCAATCAATGGTCTTCCCTTTTCCATCTGTCAGCCGGCCCTGGGAAGGGAAGGAAGGGAGTGTACAGTCAGGGAGCTATGTGCCTGGGCAGGCCTTAGCACTCTCAGTTCTCACCTCCTTCAGGAGGCCTCCCCAGAGCCCTGTGTCTCCCTCCAGCCCCAGCAGCCAGCTGCTTCCTCCTCTGGGTTCTCCGAGCACTAGACTTGCACCTTGGCTGCTGTGCTCACCGCCCTGCGCTGCAACTGCTCTCCCTACTGAGTGCCTCCAGGTGAGGCTGCAGTTGCTCTCTGGCATCTCTTGGGGCACCCAACTATCCCTGGCATGCAGAAGTCAGTCACAGTTAGCCATTCATTTGTGCAACCAACACATTTTTTGGAGGCCCGCTGTGGGCCAGGATCTGTGGTGGGGTACTGGGGTCCCACTGAGCCTACAACATGCTCCCAGTATAGAGAAGCAGTGAGATACAGGAAACAAGCACTGACCATCCAATATGTTACGTATGATAATAAAGGGAAGCCCAGCATGCTGCAGGAATTCAGAGGAGGGTACTTTACATGGCTACTGTCAGGACTAGATGTGGTTATCTGGTGAAAATTCTTAGTAAACCATGCTGTTCAAATGTTCAGAGCTATTATTACTGTAGTAGGTGATATATAATGAAACAGGACAACCTCTTTTATCTTTGGAGCTGCCGCCTGGCCTAACAGGGATAAAAAATGAGATTGCTTCTTTAACCACCTTGGGAAGTTTCCTTGGAATCTTCAGCTCTTTCTAGAAGGGACAAAGGAGGCATCTATACTGGAGAAAGATGCACCAAAGAAGGAGAAAAGGAGCAAACAGTATAGGGCAGAGACA
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TGAAACATTGGCTGGTCTGTGAAATGCCCTTGGGGGACGGTGTCCAGACCCTCTGCTTTGTGACTAACATGCAGACTGAATAAACTGCATGTTTATTCCAGGCTCGTTTAGCTGGACGAGCAGTACAGACAGGGCTGAGGCTGACTCCATGGCCATGTGGGCAGAGGTCAAACCCATGATCTCTCTTCCTACAGCTTCCTAATGTCTGCGATGTTGGTCTTTTGAAGGAGGCCCCCACAGAGCTGAGCTTGCTTGGTTATCTGGGACTGCTGCTCAGTCTGAGTAGGGGAGGGTAATGAACCAGTCAGGCCTCCTCCTGGAGGTGCCCAACACTGGCCTAGTCCCCAAGGCTGACGAAACATGGTCTGGCCTGACCCCAGGACGTGGGGTGAGGAGGAACACTGGGCATAATATAGTAGCGGAAACAGGCAAGCCTCTATGGGTCCCTTCCCCTTAGAATTTTAGGGTAGGGAACGAGGAGGCTACAGACTAAATTGCAGAACTATCTGCACCTGGGCCTCTGAGCTCTTCCTCCACTCCCAGTGGAGCCATTCTGGGGACTGAGTTGCATGAGGACTAGCAGAGGGTGGCAGTTCAGTCTGGTCCCTGTCTTCTTCCAGCCAGCTGTGTTCTTAGCTGCCATACTTCTGAGCTTCCTGGGAACATGAGAAAGTCTGGCGACTATGGGGGATGGGGATCATTCTGAAGGAAATAAGGGACCTCCATCCCTCCTTGCCTTGAAGGGGGTGGAAAGGCAGCTCCTCTCCTGAAGGCTTGTTAGCAGGTTATGGGCCCACAACAAAGGGGCCAGAGTAGGGCGAAATTCCTCCTTCAGGTTTTGGGGCTGAGAAGGGGTCTTCATGGGCTGTGAGGAGGTAAGCAGGCCTGAGACTGGGTAGAGATGGGAGCGGCATGAGGGGAAGGTAAGTCAGTTGCCATGCCACAGCCAAGGGGCCTTTATTGGATGGTGAGGGCACATAGGAGCAGGCAGGTGGCTGCTAGATGGTGTTGCACACCTTCTCAGGGTGCAGTGGTGCCCGGATGTCCAGTCTGCGAGTCTTGCTGTCCTTGTCGATGATCTCCAGACGCAGCTTGGGGAGGCGCTTCTCAGCCTGGGGTGAGGGCAGTTCTGGGCTTTTGAGTAGCTGCTTGTCTGAGTCCTCCACCGTGATGCGCAAAGTACAGCCCCCTGGCAGCAGGTCCTGCTCATAGGCTGCTGCCAGCTGGTTCACCACACGGCGTTCTACCTGTCGGTGGGGAGGTGAAGTGGTCACTCCCTCGGCCTGGACCCAGCTTGGAGGTCGGCCTCCATCACTTACTGCTAGGGCAACTCAGAGACCTCCTTTGAGCCTGAGCCTCAGCTTTCTCATTTGCCAATTGGGGCTAATAACAGCTAGCTCGCAGGACTGCGCTCAAGTTTCTGAGGCTCCCAGCCCAGTTCCCTGGTCCTAGTGGGGTTCATACTGGGCTACCCTCCAGCAGGGGTTTTACTTGGTGATCATGTGTTTATGGTTCTGAATGGGCATCCACTCTGGGTGTGAATATCCAGCAACCAAGCTATAGGGAGGCAGGCTGAGAGCTCAGGGACTGGGTCTGGGGGGCCCTGGGGAGGGAGGTGTGGAGGCGCCTCATTTCTCAGGCTCCTGTGCTCACCTCATGTTTGATGGAGCGGGCGCCATAGTGCACATTGTAGCCGTCGACCAGCACATCTGCCACCTCGCGGTCCCAGAGCAGCGTGATGTTGTGCCTTTGCTTGGCCTGAGATGGGTCAGATAGAAGCATGCCTGCATGTGGCCCACTGCTTTCCATCTCTTGCCACTCTGGCCTGAGGCCAGGGCCACTGGCCCCACACCACTGTGCTCCACCTTTTATGTGTGTGGGGGTGCCCCCAGTCCAGTGTTCCAGATTTCCAGTGGCTGGCTATCCCGCCCCCACCCATGGGCAGTTCCCTCTTACTCTCTTGGCCCAGAAGTTTAGTTCCTTGTTGACGAGTTGGATGAGCTCCGAGTGGCAGAAGGGGAGGAAGTAGACGATCTCATTGATCCGTCTCAGAAACTCATCCCTCCGGAAGTGAGCCTGAAGGGCCAGGTTAGGGGTGGGATGAGCTCAGTGACCCAGAGCGGGTTAGGGAAATTACCAGACACCAGGGGAAGACTGGGGAAATTATGGGGCTTCCAGATCTTTAGGATGGCTAAGATCACCCTCCCCCAACCTTAGGCTCCAGCAGGAAGTGCCAAGAAAGACCTCTTACTTTCAGGATAGGGCGAATCACATTCTCCTTGAAGTTCTTTGAGATGGTGATCTTGTCACTTATCTGGACATCCCCTGTGGAGAAGAATCATAAACTGCTTATTCCCCACATTCAGGGAACTTTGGGGGCTGTGCCTGCCCCTTGGCCTGCCCATGGAAAGAGCCCTGGTCCTGTCCATCTGTGTGGTCCTGGTCAAGGTCTAAGGCTCTCTGGGCTTCAGCCTGGTCTCCTCCTCTGACCAGGCACTTTCGGAGGCCTTTCCAGCTCTCAAGTGTATGAAGTCTGCGATTCCTCAGGGTGGGAGTTGTGTGAGGGAGGGAGAGGAGAGGAAACGTCAGGATTAAGACTTGAGTCCTGACTTGGAGGAAGGGGGCTGCAGGGCTCGATCTTGAATGGAAAAGGTGACAGACACAGCTTCCTGCCGGATGTGCTCCTTTTTTTCAGCACTCTCCATGGCCCACCTACGCAGGAAGCTGCCCTGGGTGAACAAGGCTGTGTCCACTGCCATAGAGTTTTCGATCTGCTGTCCCCTTCTTGCACCAAAGCATCTGTGTCTCTTGCATGTGCATCTCCTCAGTCCCCTAAGACACTGAGCAGCTTCTGGCCCCCCACCCTGGTGTAGCTCTGTCCATTCCTGCCTGGAGCCCTCTTATCACCCAACAGACTTGAGGCTTTCTTGAAGTGGGGTCTCTGTCTCTTTTGTCTCAACCCCCACTACTTGGTATGGTGTCTGATATCTGCTCAGTGTCAGCTAGGGACAGAGCTGCCCACTAGAACCTTCACCTGGGCCCAGGGCCCCAATCCCATCCTTCCCCAGGAGATAGGCTGGTGGCTTGGTCACTGGACCAGACTGCTCAGGTCAGCCGCCATACCCAGGTTTTCGGCAATACGGTTACGGCTCATCTCCAAAGCTTCCTGCCTCAGCTGCAGCGCGTGCTGTGCGATCTCGTCGCTGGCCACATTGGAGGTCATGATGAAGATGGCGTCCTTGCAATCAATGGTCTTCCCTTTTCCATCTGTCAGCCGGCCCTGGGAAGGGAAGGAAGGGAGTGTACAGTCAGGGAGCTATGTGCCTGGGCAGGCCTTAGCACTCTCAGTTCTCACCTCCTTCAGGAGGCCTCCCCAGAGCCCTGTGTCTCCCTCCAGCCCCAGCAGCCAGCTGCTTCCTCCTCTGGGTTCTCCGAGCACTAGACTTGCACCTTGGCTGCTGTGCTCACCGCCCTGCGCTGCAACTGCTCTCCCTACTGAGTGCCTCCAGGTGAGGCTGCAGTTGCTCTCTGGCATCTCTTGGGGCACCCAACTATCCCTGGCATGCAGAAGTCAGTCACAGTTAGCCATTCATTTGTGCAACCAACACATTTTTTGGAGGCCCGCTGTGGGCCAGGATCTGTGGTGGGGTACTGGGGTCCCACTGAGCCTACAACATGCTCCCAGTATAGAGAAGCAGTGAGATACAGGAAACAAGCACTGACCATCCAATATGTTACGTATGATAATAAAGGGAAGCCCAGCATGCTGCAGGAATTCAGAGGAGGGTACTTTACATGGCTACTGTCAGGACTAGATGTGGTTATCTGGTGAAAATTCTTAGTAAACCATGCTGTTCAAATGTTCAGAGCTATTATTACTGTAGTAGGTGATATATAATGAAACAGGACAACCTCTTTTATCTTTGGAGCTGCCGCCTGGCCTAACAGGGATAAAAAATGAGATTGCTTCTTTAACCACCTTGGGAAGTTTCCTTGGAATCTTCAGCTCTTTCTAGAAGGGACAAAGGAGGCATCTATACTGGAGAAAGATGCACCAAAGAAGGAGAAAAGGAGCAAACAGTATAGGGCAGAGACA
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Task1_train_16278
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This mutation is located in gene CLPB (ClpB family mitochondrial disaggregase) on Chromosome 11. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Myeloid maturation arrest
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TGAAACATTGGCTGGTCTGTGAAATGCCCTTGGGGGACGGTGTCCAGACCCTCTGCTTTGTGACTAACATGCAGACTGAATAAACTGCATGTTTATTCCAGGCTCGTTTAGCTGGACGAGCAGTACAGACAGGGCTGAGGCTGACTCCATGGCCATGTGGGCAGAGGTCAAACCCATGATCTCTCTTCCTACAGCTTCCTAATGTCTGCGATGTTGGTCTTTTGAAGGAGGCCCCCACAGAGCTGAGCTTGCTTGGTTATCTGGGACTGCTGCTCAGTCTGAGTAGGGGAGGGTAATGAACCAGTCAGGCCTCCTCCTGGAGGTGCCCAACACTGGCCTAGTCCCCAAGGCTGACGAAACATGGTCTGGCCTGACCCCAGGACGTGGGGTGAGGAGGAACACTGGGCATAATATAGTAGCGGAAACAGGCAAGCCTCTATGGGTCCCTTCCCCTTAGAATTTTAGGGTAGGGAACGAGGAGGCTACAGACTAAATTGCAGAACTATCTGCACCTGGGCCTCTGAGCTCTTCCTCCACTCCCAGTGGAGCCATTCTGGGGACTGAGTTGCATGAGGACTAGCAGAGGGTGGCAGTTCAGTCTGGTCCCTGTCTTCTTCCAGCCAGCTGTGTTCTTAGCTGCCATACTTCTGAGCTTCCTGGGAACATGAGAAAGTCTGGCGACTATGGGGGATGGGGATCATTCTGAAGGAAATAAGGGACCTCCATCCCTCCTTGCCTTGAAGGGGGTGGAAAGGCAGCTCCTCTCCTGAAGGCTTGTTAGCAGGTTATGGGCCCACAACAAAGGGGCCAGAGTAGGGCGAAATTCCTCCTTCAGGTTTTGGGGCTGAGAAGGGGTCTTCATGGGCTGTGAGGAGGTAAGCAGGCCTGAGACTGGGTAGAGATGGGAGCGGCATGAGGGGAAGGTAAGTCAGTTGCCATGCCACAGCCAAGGGGCCTTTATTGGATGGTGAGGGCACATAGGAGCAGGCAGGTGGCTGCTAGATGGTGTTGCACACCTTCTCAGGGTGCAGTGGTGCCCGGATGTCCAGTCTGCGAGTCTTGCTGTCCTTGTCGATGATCTCCAGACGCAGCTTGGGGAGGCGCTTCTCAGCCTGGGGTGAGGGCAGTTCTGGGCTTTTGAGTAGCTGCTTGTCTGAGTCCTCCACCGTGATGCGCAAAGTACAGCCCCCTGGCAGCAGGTCCTGCTCATAGGCTGCTGCCAGCTGGTTCACCACACGGCGTTCTACCTGTCGGTGGGGAGGTGAAGTGGTCACTCCCTCGGCCTGGACCCAGCTTGGAGGTCGGCCTCCATCACTTACTGCTAGGGCAACTCAGAGACCTCCTTTGAGCCTGAGCCTCAGCTTTCTCATTTGCCAATTGGGGCTAATAACAGCTAGCTCGCAGGACTGCGCTCAAGTTTCTGAGGCTCCCAGCCCAGTTCCCTGGTCCTAGTGGGGTTCATACTGGGCTACCCTCCAGCAGGGGTTTTACTTGGTGATCATGTGTTTATGGTTCTGAATGGGCATCCACTCTGGGTGTGAATATCCAGCAACCAAGCTATAGGGAGGCAGGCTGAGAGCTCAGGGACTGGGTCTGGGGGGCCCTGGGGAGGGAGGTGTGGAGGCGCCTCATTTCTCAGGCTCCTGTGCTCACCTCATGTTTGATGGAGCGGGCGCCATAGTGCACATTGTAGCCGTCGACCAGCACATCTGCCACCTCGCGGTCCCAGAGCAGCGTGATGTTGTGCCTTTGCTTGGCCTGAGATGGGTCAGATAGAAGCATGCCTGCATGTGGCCCACTGCTTTCCATCTCTTGCCACTCTGGCCTGAGGCCAGGGCCACTGGCCCCACACCACTGTGCTCCACCTTTTATGTGTGTGGGGGTGCCCCCAGTCCAGTGTTCCAGATTTCCAGTGGCTGGCTATCCCGCCCCCACCCATGGGCAGTTCCCTCTTACTCTCTTGGCCCAGAAGTTTAGTTCCTTGTTGACGAGTTGGATGAGCTCCGAGTGGCAGAAGGGGAGGAAGTAGACGATCTCATTGATCCGTCCCAGAAACTCATCCCTCCGGAAGTGAGCCTGAAGGGCCAGGTTAGGGGTGGGATGAGCTCAGTGACCCAGAGCGGGTTAGGGAAATTACCAGACACCAGGGGAAGACTGGGGAAATTATGGGGCTTCCAGATCTTTAGGATGGCTAAGATCACCCTCCCCCAACCTTAGGCTCCAGCAGGAAGTGCCAAGAAAGACCTCTTACTTTCAGGATAGGGCGAATCACATTCTCCTTGAAGTTCTTTGAGATGGTGATCTTGTCACTTATCTGGACATCCCCTGTGGAGAAGAATCATAAACTGCTTATTCCCCACATTCAGGGAACTTTGGGGGCTGTGCCTGCCCCTTGGCCTGCCCATGGAAAGAGCCCTGGTCCTGTCCATCTGTGTGGTCCTGGTCAAGGTCTAAGGCTCTCTGGGCTTCAGCCTGGTCTCCTCCTCTGACCAGGCACTTTCGGAGGCCTTTCCAGCTCTCAAGTGTATGAAGTCTGCGATTCCTCAGGGTGGGAGTTGTGTGAGGGAGGGAGAGGAGAGGAAACGTCAGGATTAAGACTTGAGTCCTGACTTGGAGGAAGGGGGCTGCAGGGCTCGATCTTGAATGGAAAAGGTGACAGACACAGCTTCCTGCCGGATGTGCTCCTTTTTTTCAGCACTCTCCATGGCCCACCTACGCAGGAAGCTGCCCTGGGTGAACAAGGCTGTGTCCACTGCCATAGAGTTTTCGATCTGCTGTCCCCTTCTTGCACCAAAGCATCTGTGTCTCTTGCATGTGCATCTCCTCAGTCCCCTAAGACACTGAGCAGCTTCTGGCCCCCCACCCTGGTGTAGCTCTGTCCATTCCTGCCTGGAGCCCTCTTATCACCCAACAGACTTGAGGCTTTCTTGAAGTGGGGTCTCTGTCTCTTTTGTCTCAACCCCCACTACTTGGTATGGTGTCTGATATCTGCTCAGTGTCAGCTAGGGACAGAGCTGCCCACTAGAACCTTCACCTGGGCCCAGGGCCCCAATCCCATCCTTCCCCAGGAGATAGGCTGGTGGCTTGGTCACTGGACCAGACTGCTCAGGTCAGCCGCCATACCCAGGTTTTCGGCAATACGGTTACGGCTCATCTCCAAAGCTTCCTGCCTCAGCTGCAGCGCGTGCTGTGCGATCTCGTCGCTGGCCACATTGGAGGTCATGATGAAGATGGCGTCCTTGCAATCAATGGTCTTCCCTTTTCCATCTGTCAGCCGGCCCTGGGAAGGGAAGGAAGGGAGTGTACAGTCAGGGAGCTATGTGCCTGGGCAGGCCTTAGCACTCTCAGTTCTCACCTCCTTCAGGAGGCCTCCCCAGAGCCCTGTGTCTCCCTCCAGCCCCAGCAGCCAGCTGCTTCCTCCTCTGGGTTCTCCGAGCACTAGACTTGCACCTTGGCTGCTGTGCTCACCGCCCTGCGCTGCAACTGCTCTCCCTACTGAGTGCCTCCAGGTGAGGCTGCAGTTGCTCTCTGGCATCTCTTGGGGCACCCAACTATCCCTGGCATGCAGAAGTCAGTCACAGTTAGCCATTCATTTGTGCAACCAACACATTTTTTGGAGGCCCGCTGTGGGCCAGGATCTGTGGTGGGGTACTGGGGTCCCACTGAGCCTACAACATGCTCCCAGTATAGAGAAGCAGTGAGATACAGGAAACAAGCACTGACCATCCAATATGTTACGTATGATAATAAAGGGAAGCCCAGCATGCTGCAGGAATTCAGAGGAGGGTACTTTACATGGCTACTGTCAGGACTAGATGTGGTTATCTGGTGAAAATTCTTAGTAAACCATGCTGTTCAAATGTTCAGAGCTATTATTACTGTAGTAGGTGATATATAATGAAACAGGACAACCTCTTTTATCTTTGGAGCTGCCGCCTGGCCTAACAGGGATAAAAAATGAGATTGCTTCTTTAACCACCTTGGGAAGTTTCCTTGGAATCTTCAGCTCTTTCTAGAAGGGACAAAGGAGGCATCTATACTGGAGAAAGATGCACCAAAGAAGGAGAAAAGGAGCAAACAGTATAGGGCAGAGACA
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TGAAACATTGGCTGGTCTGTGAAATGCCCTTGGGGGACGGTGTCCAGACCCTCTGCTTTGTGACTAACATGCAGACTGAATAAACTGCATGTTTATTCCAGGCTCGTTTAGCTGGACGAGCAGTACAGACAGGGCTGAGGCTGACTCCATGGCCATGTGGGCAGAGGTCAAACCCATGATCTCTCTTCCTACAGCTTCCTAATGTCTGCGATGTTGGTCTTTTGAAGGAGGCCCCCACAGAGCTGAGCTTGCTTGGTTATCTGGGACTGCTGCTCAGTCTGAGTAGGGGAGGGTAATGAACCAGTCAGGCCTCCTCCTGGAGGTGCCCAACACTGGCCTAGTCCCCAAGGCTGACGAAACATGGTCTGGCCTGACCCCAGGACGTGGGGTGAGGAGGAACACTGGGCATAATATAGTAGCGGAAACAGGCAAGCCTCTATGGGTCCCTTCCCCTTAGAATTTTAGGGTAGGGAACGAGGAGGCTACAGACTAAATTGCAGAACTATCTGCACCTGGGCCTCTGAGCTCTTCCTCCACTCCCAGTGGAGCCATTCTGGGGACTGAGTTGCATGAGGACTAGCAGAGGGTGGCAGTTCAGTCTGGTCCCTGTCTTCTTCCAGCCAGCTGTGTTCTTAGCTGCCATACTTCTGAGCTTCCTGGGAACATGAGAAAGTCTGGCGACTATGGGGGATGGGGATCATTCTGAAGGAAATAAGGGACCTCCATCCCTCCTTGCCTTGAAGGGGGTGGAAAGGCAGCTCCTCTCCTGAAGGCTTGTTAGCAGGTTATGGGCCCACAACAAAGGGGCCAGAGTAGGGCGAAATTCCTCCTTCAGGTTTTGGGGCTGAGAAGGGGTCTTCATGGGCTGTGAGGAGGTAAGCAGGCCTGAGACTGGGTAGAGATGGGAGCGGCATGAGGGGAAGGTAAGTCAGTTGCCATGCCACAGCCAAGGGGCCTTTATTGGATGGTGAGGGCACATAGGAGCAGGCAGGTGGCTGCTAGATGGTGTTGCACACCTTCTCAGGGTGCAGTGGTGCCCGGATGTCCAGTCTGCGAGTCTTGCTGTCCTTGTCGATGATCTCCAGACGCAGCTTGGGGAGGCGCTTCTCAGCCTGGGGTGAGGGCAGTTCTGGGCTTTTGAGTAGCTGCTTGTCTGAGTCCTCCACCGTGATGCGCAAAGTACAGCCCCCTGGCAGCAGGTCCTGCTCATAGGCTGCTGCCAGCTGGTTCACCACACGGCGTTCTACCTGTCGGTGGGGAGGTGAAGTGGTCACTCCCTCGGCCTGGACCCAGCTTGGAGGTCGGCCTCCATCACTTACTGCTAGGGCAACTCAGAGACCTCCTTTGAGCCTGAGCCTCAGCTTTCTCATTTGCCAATTGGGGCTAATAACAGCTAGCTCGCAGGACTGCGCTCAAGTTTCTGAGGCTCCCAGCCCAGTTCCCTGGTCCTAGTGGGGTTCATACTGGGCTACCCTCCAGCAGGGGTTTTACTTGGTGATCATGTGTTTATGGTTCTGAATGGGCATCCACTCTGGGTGTGAATATCCAGCAACCAAGCTATAGGGAGGCAGGCTGAGAGCTCAGGGACTGGGTCTGGGGGGCCCTGGGGAGGGAGGTGTGGAGGCGCCTCATTTCTCAGGCTCCTGTGCTCACCTCATGTTTGATGGAGCGGGCGCCATAGTGCACATTGTAGCCGTCGACCAGCACATCTGCCACCTCGCGGTCCCAGAGCAGCGTGATGTTGTGCCTTTGCTTGGCCTGAGATGGGTCAGATAGAAGCATGCCTGCATGTGGCCCACTGCTTTCCATCTCTTGCCACTCTGGCCTGAGGCCAGGGCCACTGGCCCCACACCACTGTGCTCCACCTTTTATGTGTGTGGGGGTGCCCCCAGTCCAGTGTTCCAGATTTCCAGTGGCTGGCTATCCCGCCCCCACCCATGGGCAGTTCCCTCTTACTCTCTTGGCCCAGAAGTTTAGTTCCTTGTTGACGAGTTGGATGAGCTCCGAGTGGCAGAAGGGGAGGAAGTAGACGATCTCATTGATCCGTCTCAGAAACTCATCCCTCCGGAAGTGAGCCTGAAGGGCCAGGTTAGGGGTGGGATGAGCTCAGTGACCCAGAGCGGGTTAGGGAAATTACCAGACACCAGGGGAAGACTGGGGAAATTATGGGGCTTCCAGATCTTTAGGATGGCTAAGATCACCCTCCCCCAACCTTAGGCTCCAGCAGGAAGTGCCAAGAAAGACCTCTTACTTTCAGGATAGGGCGAATCACATTCTCCTTGAAGTTCTTTGAGATGGTGATCTTGTCACTTATCTGGACATCCCCTGTGGAGAAGAATCATAAACTGCTTATTCCCCACATTCAGGGAACTTTGGGGGCTGTGCCTGCCCCTTGGCCTGCCCATGGAAAGAGCCCTGGTCCTGTCCATCTGTGTGGTCCTGGTCAAGGTCTAAGGCTCTCTGGGCTTCAGCCTGGTCTCCTCCTCTGACCAGGCACTTTCGGAGGCCTTTCCAGCTCTCAAGTGTATGAAGTCTGCGATTCCTCAGGGTGGGAGTTGTGTGAGGGAGGGAGAGGAGAGGAAACGTCAGGATTAAGACTTGAGTCCTGACTTGGAGGAAGGGGGCTGCAGGGCTCGATCTTGAATGGAAAAGGTGACAGACACAGCTTCCTGCCGGATGTGCTCCTTTTTTTCAGCACTCTCCATGGCCCACCTACGCAGGAAGCTGCCCTGGGTGAACAAGGCTGTGTCCACTGCCATAGAGTTTTCGATCTGCTGTCCCCTTCTTGCACCAAAGCATCTGTGTCTCTTGCATGTGCATCTCCTCAGTCCCCTAAGACACTGAGCAGCTTCTGGCCCCCCACCCTGGTGTAGCTCTGTCCATTCCTGCCTGGAGCCCTCTTATCACCCAACAGACTTGAGGCTTTCTTGAAGTGGGGTCTCTGTCTCTTTTGTCTCAACCCCCACTACTTGGTATGGTGTCTGATATCTGCTCAGTGTCAGCTAGGGACAGAGCTGCCCACTAGAACCTTCACCTGGGCCCAGGGCCCCAATCCCATCCTTCCCCAGGAGATAGGCTGGTGGCTTGGTCACTGGACCAGACTGCTCAGGTCAGCCGCCATACCCAGGTTTTCGGCAATACGGTTACGGCTCATCTCCAAAGCTTCCTGCCTCAGCTGCAGCGCGTGCTGTGCGATCTCGTCGCTGGCCACATTGGAGGTCATGATGAAGATGGCGTCCTTGCAATCAATGGTCTTCCCTTTTCCATCTGTCAGCCGGCCCTGGGAAGGGAAGGAAGGGAGTGTACAGTCAGGGAGCTATGTGCCTGGGCAGGCCTTAGCACTCTCAGTTCTCACCTCCTTCAGGAGGCCTCCCCAGAGCCCTGTGTCTCCCTCCAGCCCCAGCAGCCAGCTGCTTCCTCCTCTGGGTTCTCCGAGCACTAGACTTGCACCTTGGCTGCTGTGCTCACCGCCCTGCGCTGCAACTGCTCTCCCTACTGAGTGCCTCCAGGTGAGGCTGCAGTTGCTCTCTGGCATCTCTTGGGGCACCCAACTATCCCTGGCATGCAGAAGTCAGTCACAGTTAGCCATTCATTTGTGCAACCAACACATTTTTTGGAGGCCCGCTGTGGGCCAGGATCTGTGGTGGGGTACTGGGGTCCCACTGAGCCTACAACATGCTCCCAGTATAGAGAAGCAGTGAGATACAGGAAACAAGCACTGACCATCCAATATGTTACGTATGATAATAAAGGGAAGCCCAGCATGCTGCAGGAATTCAGAGGAGGGTACTTTACATGGCTACTGTCAGGACTAGATGTGGTTATCTGGTGAAAATTCTTAGTAAACCATGCTGTTCAAATGTTCAGAGCTATTATTACTGTAGTAGGTGATATATAATGAAACAGGACAACCTCTTTTATCTTTGGAGCTGCCGCCTGGCCTAACAGGGATAAAAAATGAGATTGCTTCTTTAACCACCTTGGGAAGTTTCCTTGGAATCTTCAGCTCTTTCTAGAAGGGACAAAGGAGGCATCTATACTGGAGAAAGATGCACCAAAGAAGGAGAAAAGGAGCAAACAGTATAGGGCAGAGACA
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Task1_train_16279
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This alteration in CLPB (ClpB family mitochondrial disaggregase) on Chromosome 11 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; 3-Methylglutaric aciduria
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TGAAACATTGGCTGGTCTGTGAAATGCCCTTGGGGGACGGTGTCCAGACCCTCTGCTTTGTGACTAACATGCAGACTGAATAAACTGCATGTTTATTCCAGGCTCGTTTAGCTGGACGAGCAGTACAGACAGGGCTGAGGCTGACTCCATGGCCATGTGGGCAGAGGTCAAACCCATGATCTCTCTTCCTACAGCTTCCTAATGTCTGCGATGTTGGTCTTTTGAAGGAGGCCCCCACAGAGCTGAGCTTGCTTGGTTATCTGGGACTGCTGCTCAGTCTGAGTAGGGGAGGGTAATGAACCAGTCAGGCCTCCTCCTGGAGGTGCCCAACACTGGCCTAGTCCCCAAGGCTGACGAAACATGGTCTGGCCTGACCCCAGGACGTGGGGTGAGGAGGAACACTGGGCATAATATAGTAGCGGAAACAGGCAAGCCTCTATGGGTCCCTTCCCCTTAGAATTTTAGGGTAGGGAACGAGGAGGCTACAGACTAAATTGCAGAACTATCTGCACCTGGGCCTCTGAGCTCTTCCTCCACTCCCAGTGGAGCCATTCTGGGGACTGAGTTGCATGAGGACTAGCAGAGGGTGGCAGTTCAGTCTGGTCCCTGTCTTCTTCCAGCCAGCTGTGTTCTTAGCTGCCATACTTCTGAGCTTCCTGGGAACATGAGAAAGTCTGGCGACTATGGGGGATGGGGATCATTCTGAAGGAAATAAGGGACCTCCATCCCTCCTTGCCTTGAAGGGGGTGGAAAGGCAGCTCCTCTCCTGAAGGCTTGTTAGCAGGTTATGGGCCCACAACAAAGGGGCCAGAGTAGGGCGAAATTCCTCCTTCAGGTTTTGGGGCTGAGAAGGGGTCTTCATGGGCTGTGAGGAGGTAAGCAGGCCTGAGACTGGGTAGAGATGGGAGCGGCATGAGGGGAAGGTAAGTCAGTTGCCATGCCACAGCCAAGGGGCCTTTATTGGATGGTGAGGGCACATAGGAGCAGGCAGGTGGCTGCTAGATGGTGTTGCACACCTTCTCAGGGTGCAGTGGTGCCCGGATGTCCAGTCTGCGAGTCTTGCTGTCCTTGTCGATGATCTCCAGACGCAGCTTGGGGAGGCGCTTCTCAGCCTGGGGTGAGGGCAGTTCTGGGCTTTTGAGTAGCTGCTTGTCTGAGTCCTCCACCGTGATGCGCAAAGTACAGCCCCCTGGCAGCAGGTCCTGCTCATAGGCTGCTGCCAGCTGGTTCACCACACGGCGTTCTACCTGTCGGTGGGGAGGTGAAGTGGTCACTCCCTCGGCCTGGACCCAGCTTGGAGGTCGGCCTCCATCACTTACTGCTAGGGCAACTCAGAGACCTCCTTTGAGCCTGAGCCTCAGCTTTCTCATTTGCCAATTGGGGCTAATAACAGCTAGCTCGCAGGACTGCGCTCAAGTTTCTGAGGCTCCCAGCCCAGTTCCCTGGTCCTAGTGGGGTTCATACTGGGCTACCCTCCAGCAGGGGTTTTACTTGGTGATCATGTGTTTATGGTTCTGAATGGGCATCCACTCTGGGTGTGAATATCCAGCAACCAAGCTATAGGGAGGCAGGCTGAGAGCTCAGGGACTGGGTCTGGGGGGCCCTGGGGAGGGAGGTGTGGAGGCGCCTCATTTCTCAGGCTCCTGTGCTCACCTCATGTTTGATGGAGCGGGCGCCATAGTGCACATTGTAGCCGTCGACCAGCACATCTGCCACCTCGCGGTCCCAGAGCAGCGTGATGTTGTGCCTTTGCTTGGCCTGAGATGGGTCAGATAGAAGCATGCCTGCATGTGGCCCACTGCTTTCCATCTCTTGCCACTCTGGCCTGAGGCCAGGGCCACTGGCCCCACACCACTGTGCTCCACCTTTTATGTGTGTGGGGGTGCCCCCAGTCCAGTGTTCCAGATTTCCAGTGGCTGGCTATCCCGCCCCCACCCATGGGCAGTTCCCTCTTACTCTCTTGGCCCAGAAGTTTAGTTCCTTGTTGACGAGTTGGATGAGCTCCGAGTGGCAGAAGGGGAGGAAGTAGACGATCTCATTGATCCGTCCCAGAAACTCATCCCTCCGGAAGTGAGCCTGAAGGGCCAGGTTAGGGGTGGGATGAGCTCAGTGACCCAGAGCGGGTTAGGGAAATTACCAGACACCAGGGGAAGACTGGGGAAATTATGGGGCTTCCAGATCTTTAGGATGGCTAAGATCACCCTCCCCCAACCTTAGGCTCCAGCAGGAAGTGCCAAGAAAGACCTCTTACTTTCAGGATAGGGCGAATCACATTCTCCTTGAAGTTCTTTGAGATGGTGATCTTGTCACTTATCTGGACATCCCCTGTGGAGAAGAATCATAAACTGCTTATTCCCCACATTCAGGGAACTTTGGGGGCTGTGCCTGCCCCTTGGCCTGCCCATGGAAAGAGCCCTGGTCCTGTCCATCTGTGTGGTCCTGGTCAAGGTCTAAGGCTCTCTGGGCTTCAGCCTGGTCTCCTCCTCTGACCAGGCACTTTCGGAGGCCTTTCCAGCTCTCAAGTGTATGAAGTCTGCGATTCCTCAGGGTGGGAGTTGTGTGAGGGAGGGAGAGGAGAGGAAACGTCAGGATTAAGACTTGAGTCCTGACTTGGAGGAAGGGGGCTGCAGGGCTCGATCTTGAATGGAAAAGGTGACAGACACAGCTTCCTGCCGGATGTGCTCCTTTTTTTCAGCACTCTCCATGGCCCACCTACGCAGGAAGCTGCCCTGGGTGAACAAGGCTGTGTCCACTGCCATAGAGTTTTCGATCTGCTGTCCCCTTCTTGCACCAAAGCATCTGTGTCTCTTGCATGTGCATCTCCTCAGTCCCCTAAGACACTGAGCAGCTTCTGGCCCCCCACCCTGGTGTAGCTCTGTCCATTCCTGCCTGGAGCCCTCTTATCACCCAACAGACTTGAGGCTTTCTTGAAGTGGGGTCTCTGTCTCTTTTGTCTCAACCCCCACTACTTGGTATGGTGTCTGATATCTGCTCAGTGTCAGCTAGGGACAGAGCTGCCCACTAGAACCTTCACCTGGGCCCAGGGCCCCAATCCCATCCTTCCCCAGGAGATAGGCTGGTGGCTTGGTCACTGGACCAGACTGCTCAGGTCAGCCGCCATACCCAGGTTTTCGGCAATACGGTTACGGCTCATCTCCAAAGCTTCCTGCCTCAGCTGCAGCGCGTGCTGTGCGATCTCGTCGCTGGCCACATTGGAGGTCATGATGAAGATGGCGTCCTTGCAATCAATGGTCTTCCCTTTTCCATCTGTCAGCCGGCCCTGGGAAGGGAAGGAAGGGAGTGTACAGTCAGGGAGCTATGTGCCTGGGCAGGCCTTAGCACTCTCAGTTCTCACCTCCTTCAGGAGGCCTCCCCAGAGCCCTGTGTCTCCCTCCAGCCCCAGCAGCCAGCTGCTTCCTCCTCTGGGTTCTCCGAGCACTAGACTTGCACCTTGGCTGCTGTGCTCACCGCCCTGCGCTGCAACTGCTCTCCCTACTGAGTGCCTCCAGGTGAGGCTGCAGTTGCTCTCTGGCATCTCTTGGGGCACCCAACTATCCCTGGCATGCAGAAGTCAGTCACAGTTAGCCATTCATTTGTGCAACCAACACATTTTTTGGAGGCCCGCTGTGGGCCAGGATCTGTGGTGGGGTACTGGGGTCCCACTGAGCCTACAACATGCTCCCAGTATAGAGAAGCAGTGAGATACAGGAAACAAGCACTGACCATCCAATATGTTACGTATGATAATAAAGGGAAGCCCAGCATGCTGCAGGAATTCAGAGGAGGGTACTTTACATGGCTACTGTCAGGACTAGATGTGGTTATCTGGTGAAAATTCTTAGTAAACCATGCTGTTCAAATGTTCAGAGCTATTATTACTGTAGTAGGTGATATATAATGAAACAGGACAACCTCTTTTATCTTTGGAGCTGCCGCCTGGCCTAACAGGGATAAAAAATGAGATTGCTTCTTTAACCACCTTGGGAAGTTTCCTTGGAATCTTCAGCTCTTTCTAGAAGGGACAAAGGAGGCATCTATACTGGAGAAAGATGCACCAAAGAAGGAGAAAAGGAGCAAACAGTATAGGGCAGAGACA
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TGAAACATTGGCTGGTCTGTGAAATGCCCTTGGGGGACGGTGTCCAGACCCTCTGCTTTGTGACTAACATGCAGACTGAATAAACTGCATGTTTATTCCAGGCTCGTTTAGCTGGACGAGCAGTACAGACAGGGCTGAGGCTGACTCCATGGCCATGTGGGCAGAGGTCAAACCCATGATCTCTCTTCCTACAGCTTCCTAATGTCTGCGATGTTGGTCTTTTGAAGGAGGCCCCCACAGAGCTGAGCTTGCTTGGTTATCTGGGACTGCTGCTCAGTCTGAGTAGGGGAGGGTAATGAACCAGTCAGGCCTCCTCCTGGAGGTGCCCAACACTGGCCTAGTCCCCAAGGCTGACGAAACATGGTCTGGCCTGACCCCAGGACGTGGGGTGAGGAGGAACACTGGGCATAATATAGTAGCGGAAACAGGCAAGCCTCTATGGGTCCCTTCCCCTTAGAATTTTAGGGTAGGGAACGAGGAGGCTACAGACTAAATTGCAGAACTATCTGCACCTGGGCCTCTGAGCTCTTCCTCCACTCCCAGTGGAGCCATTCTGGGGACTGAGTTGCATGAGGACTAGCAGAGGGTGGCAGTTCAGTCTGGTCCCTGTCTTCTTCCAGCCAGCTGTGTTCTTAGCTGCCATACTTCTGAGCTTCCTGGGAACATGAGAAAGTCTGGCGACTATGGGGGATGGGGATCATTCTGAAGGAAATAAGGGACCTCCATCCCTCCTTGCCTTGAAGGGGGTGGAAAGGCAGCTCCTCTCCTGAAGGCTTGTTAGCAGGTTATGGGCCCACAACAAAGGGGCCAGAGTAGGGCGAAATTCCTCCTTCAGGTTTTGGGGCTGAGAAGGGGTCTTCATGGGCTGTGAGGAGGTAAGCAGGCCTGAGACTGGGTAGAGATGGGAGCGGCATGAGGGGAAGGTAAGTCAGTTGCCATGCCACAGCCAAGGGGCCTTTATTGGATGGTGAGGGCACATAGGAGCAGGCAGGTGGCTGCTAGATGGTGTTGCACACCTTCTCAGGGTGCAGTGGTGCCCGGATGTCCAGTCTGCGAGTCTTGCTGTCCTTGTCGATGATCTCCAGACGCAGCTTGGGGAGGCGCTTCTCAGCCTGGGGTGAGGGCAGTTCTGGGCTTTTGAGTAGCTGCTTGTCTGAGTCCTCCACCGTGATGCGCAAAGTACAGCCCCCTGGCAGCAGGTCCTGCTCATAGGCTGCTGCCAGCTGGTTCACCACACGGCGTTCTACCTGTCGGTGGGGAGGTGAAGTGGTCACTCCCTCGGCCTGGACCCAGCTTGGAGGTCGGCCTCCATCACTTACTGCTAGGGCAACTCAGAGACCTCCTTTGAGCCTGAGCCTCAGCTTTCTCATTTGCCAATTGGGGCTAATAACAGCTAGCTCGCAGGACTGCGCTCAAGTTTCTGAGGCTCCCAGCCCAGTTCCCTGGTCCTAGTGGGGTTCATACTGGGCTACCCTCCAGCAGGGGTTTTACTTGGTGATCATGTGTTTATGGTTCTGAATGGGCATCCACTCTGGGTGTGAATATCCAGCAACCAAGCTATAGGGAGGCAGGCTGAGAGCTCAGGGACTGGGTCTGGGGGGCCCTGGGGAGGGAGGTGTGGAGGCGCCTCATTTCTCAGGCTCCTGTGCTCACCTCATGTTTGATGGAGCGGGCGCCATAGTGCACATTGTAGCCGTCGACCAGCACATCTGCCACCTCGCGGTCCCAGAGCAGCGTGATGTTGTGCCTTTGCTTGGCCTGAGATGGGTCAGATAGAAGCATGCCTGCATGTGGCCCACTGCTTTCCATCTCTTGCCACTCTGGCCTGAGGCCAGGGCCACTGGCCCCACACCACTGTGCTCCACCTTTTATGTGTGTGGGGGTGCCCCCAGTCCAGTGTTCCAGATTTCCAGTGGCTGGCTATCCCGCCCCCACCCATGGGCAGTTCCCTCTTACTCTCTTGGCCCAGAAGTTTAGTTCCTTGTTGACGAGTTGGATGAGCTCCGAGTGGCAGAAGGGGAGGAAGTAGACGATCTCATTGATCCGTCTCAGAAACTCATCCCTCCGGAAGTGAGCCTGAAGGGCCAGGTTAGGGGTGGGATGAGCTCAGTGACCCAGAGCGGGTTAGGGAAATTACCAGACACCAGGGGAAGACTGGGGAAATTATGGGGCTTCCAGATCTTTAGGATGGCTAAGATCACCCTCCCCCAACCTTAGGCTCCAGCAGGAAGTGCCAAGAAAGACCTCTTACTTTCAGGATAGGGCGAATCACATTCTCCTTGAAGTTCTTTGAGATGGTGATCTTGTCACTTATCTGGACATCCCCTGTGGAGAAGAATCATAAACTGCTTATTCCCCACATTCAGGGAACTTTGGGGGCTGTGCCTGCCCCTTGGCCTGCCCATGGAAAGAGCCCTGGTCCTGTCCATCTGTGTGGTCCTGGTCAAGGTCTAAGGCTCTCTGGGCTTCAGCCTGGTCTCCTCCTCTGACCAGGCACTTTCGGAGGCCTTTCCAGCTCTCAAGTGTATGAAGTCTGCGATTCCTCAGGGTGGGAGTTGTGTGAGGGAGGGAGAGGAGAGGAAACGTCAGGATTAAGACTTGAGTCCTGACTTGGAGGAAGGGGGCTGCAGGGCTCGATCTTGAATGGAAAAGGTGACAGACACAGCTTCCTGCCGGATGTGCTCCTTTTTTTCAGCACTCTCCATGGCCCACCTACGCAGGAAGCTGCCCTGGGTGAACAAGGCTGTGTCCACTGCCATAGAGTTTTCGATCTGCTGTCCCCTTCTTGCACCAAAGCATCTGTGTCTCTTGCATGTGCATCTCCTCAGTCCCCTAAGACACTGAGCAGCTTCTGGCCCCCCACCCTGGTGTAGCTCTGTCCATTCCTGCCTGGAGCCCTCTTATCACCCAACAGACTTGAGGCTTTCTTGAAGTGGGGTCTCTGTCTCTTTTGTCTCAACCCCCACTACTTGGTATGGTGTCTGATATCTGCTCAGTGTCAGCTAGGGACAGAGCTGCCCACTAGAACCTTCACCTGGGCCCAGGGCCCCAATCCCATCCTTCCCCAGGAGATAGGCTGGTGGCTTGGTCACTGGACCAGACTGCTCAGGTCAGCCGCCATACCCAGGTTTTCGGCAATACGGTTACGGCTCATCTCCAAAGCTTCCTGCCTCAGCTGCAGCGCGTGCTGTGCGATCTCGTCGCTGGCCACATTGGAGGTCATGATGAAGATGGCGTCCTTGCAATCAATGGTCTTCCCTTTTCCATCTGTCAGCCGGCCCTGGGAAGGGAAGGAAGGGAGTGTACAGTCAGGGAGCTATGTGCCTGGGCAGGCCTTAGCACTCTCAGTTCTCACCTCCTTCAGGAGGCCTCCCCAGAGCCCTGTGTCTCCCTCCAGCCCCAGCAGCCAGCTGCTTCCTCCTCTGGGTTCTCCGAGCACTAGACTTGCACCTTGGCTGCTGTGCTCACCGCCCTGCGCTGCAACTGCTCTCCCTACTGAGTGCCTCCAGGTGAGGCTGCAGTTGCTCTCTGGCATCTCTTGGGGCACCCAACTATCCCTGGCATGCAGAAGTCAGTCACAGTTAGCCATTCATTTGTGCAACCAACACATTTTTTGGAGGCCCGCTGTGGGCCAGGATCTGTGGTGGGGTACTGGGGTCCCACTGAGCCTACAACATGCTCCCAGTATAGAGAAGCAGTGAGATACAGGAAACAAGCACTGACCATCCAATATGTTACGTATGATAATAAAGGGAAGCCCAGCATGCTGCAGGAATTCAGAGGAGGGTACTTTACATGGCTACTGTCAGGACTAGATGTGGTTATCTGGTGAAAATTCTTAGTAAACCATGCTGTTCAAATGTTCAGAGCTATTATTACTGTAGTAGGTGATATATAATGAAACAGGACAACCTCTTTTATCTTTGGAGCTGCCGCCTGGCCTAACAGGGATAAAAAATGAGATTGCTTCTTTAACCACCTTGGGAAGTTTCCTTGGAATCTTCAGCTCTTTCTAGAAGGGACAAAGGAGGCATCTATACTGGAGAAAGATGCACCAAAGAAGGAGAAAAGGAGCAAACAGTATAGGGCAGAGACA
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Task1_train_16280
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Mutation context: Chromosome 11, Gene CLPB (ClpB family mitochondrial disaggregase). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Microcytic anemia
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TGAAACATTGGCTGGTCTGTGAAATGCCCTTGGGGGACGGTGTCCAGACCCTCTGCTTTGTGACTAACATGCAGACTGAATAAACTGCATGTTTATTCCAGGCTCGTTTAGCTGGACGAGCAGTACAGACAGGGCTGAGGCTGACTCCATGGCCATGTGGGCAGAGGTCAAACCCATGATCTCTCTTCCTACAGCTTCCTAATGTCTGCGATGTTGGTCTTTTGAAGGAGGCCCCCACAGAGCTGAGCTTGCTTGGTTATCTGGGACTGCTGCTCAGTCTGAGTAGGGGAGGGTAATGAACCAGTCAGGCCTCCTCCTGGAGGTGCCCAACACTGGCCTAGTCCCCAAGGCTGACGAAACATGGTCTGGCCTGACCCCAGGACGTGGGGTGAGGAGGAACACTGGGCATAATATAGTAGCGGAAACAGGCAAGCCTCTATGGGTCCCTTCCCCTTAGAATTTTAGGGTAGGGAACGAGGAGGCTACAGACTAAATTGCAGAACTATCTGCACCTGGGCCTCTGAGCTCTTCCTCCACTCCCAGTGGAGCCATTCTGGGGACTGAGTTGCATGAGGACTAGCAGAGGGTGGCAGTTCAGTCTGGTCCCTGTCTTCTTCCAGCCAGCTGTGTTCTTAGCTGCCATACTTCTGAGCTTCCTGGGAACATGAGAAAGTCTGGCGACTATGGGGGATGGGGATCATTCTGAAGGAAATAAGGGACCTCCATCCCTCCTTGCCTTGAAGGGGGTGGAAAGGCAGCTCCTCTCCTGAAGGCTTGTTAGCAGGTTATGGGCCCACAACAAAGGGGCCAGAGTAGGGCGAAATTCCTCCTTCAGGTTTTGGGGCTGAGAAGGGGTCTTCATGGGCTGTGAGGAGGTAAGCAGGCCTGAGACTGGGTAGAGATGGGAGCGGCATGAGGGGAAGGTAAGTCAGTTGCCATGCCACAGCCAAGGGGCCTTTATTGGATGGTGAGGGCACATAGGAGCAGGCAGGTGGCTGCTAGATGGTGTTGCACACCTTCTCAGGGTGCAGTGGTGCCCGGATGTCCAGTCTGCGAGTCTTGCTGTCCTTGTCGATGATCTCCAGACGCAGCTTGGGGAGGCGCTTCTCAGCCTGGGGTGAGGGCAGTTCTGGGCTTTTGAGTAGCTGCTTGTCTGAGTCCTCCACCGTGATGCGCAAAGTACAGCCCCCTGGCAGCAGGTCCTGCTCATAGGCTGCTGCCAGCTGGTTCACCACACGGCGTTCTACCTGTCGGTGGGGAGGTGAAGTGGTCACTCCCTCGGCCTGGACCCAGCTTGGAGGTCGGCCTCCATCACTTACTGCTAGGGCAACTCAGAGACCTCCTTTGAGCCTGAGCCTCAGCTTTCTCATTTGCCAATTGGGGCTAATAACAGCTAGCTCGCAGGACTGCGCTCAAGTTTCTGAGGCTCCCAGCCCAGTTCCCTGGTCCTAGTGGGGTTCATACTGGGCTACCCTCCAGCAGGGGTTTTACTTGGTGATCATGTGTTTATGGTTCTGAATGGGCATCCACTCTGGGTGTGAATATCCAGCAACCAAGCTATAGGGAGGCAGGCTGAGAGCTCAGGGACTGGGTCTGGGGGGCCCTGGGGAGGGAGGTGTGGAGGCGCCTCATTTCTCAGGCTCCTGTGCTCACCTCATGTTTGATGGAGCGGGCGCCATAGTGCACATTGTAGCCGTCGACCAGCACATCTGCCACCTCGCGGTCCCAGAGCAGCGTGATGTTGTGCCTTTGCTTGGCCTGAGATGGGTCAGATAGAAGCATGCCTGCATGTGGCCCACTGCTTTCCATCTCTTGCCACTCTGGCCTGAGGCCAGGGCCACTGGCCCCACACCACTGTGCTCCACCTTTTATGTGTGTGGGGGTGCCCCCAGTCCAGTGTTCCAGATTTCCAGTGGCTGGCTATCCCGCCCCCACCCATGGGCAGTTCCCTCTTACTCTCTTGGCCCAGAAGTTTAGTTCCTTGTTGACGAGTTGGATGAGCTCCGAGTGGCAGAAGGGGAGGAAGTAGACGATCTCATTGATCCGTCCCAGAAACTCATCCCTCCGGAAGTGAGCCTGAAGGGCCAGGTTAGGGGTGGGATGAGCTCAGTGACCCAGAGCGGGTTAGGGAAATTACCAGACACCAGGGGAAGACTGGGGAAATTATGGGGCTTCCAGATCTTTAGGATGGCTAAGATCACCCTCCCCCAACCTTAGGCTCCAGCAGGAAGTGCCAAGAAAGACCTCTTACTTTCAGGATAGGGCGAATCACATTCTCCTTGAAGTTCTTTGAGATGGTGATCTTGTCACTTATCTGGACATCCCCTGTGGAGAAGAATCATAAACTGCTTATTCCCCACATTCAGGGAACTTTGGGGGCTGTGCCTGCCCCTTGGCCTGCCCATGGAAAGAGCCCTGGTCCTGTCCATCTGTGTGGTCCTGGTCAAGGTCTAAGGCTCTCTGGGCTTCAGCCTGGTCTCCTCCTCTGACCAGGCACTTTCGGAGGCCTTTCCAGCTCTCAAGTGTATGAAGTCTGCGATTCCTCAGGGTGGGAGTTGTGTGAGGGAGGGAGAGGAGAGGAAACGTCAGGATTAAGACTTGAGTCCTGACTTGGAGGAAGGGGGCTGCAGGGCTCGATCTTGAATGGAAAAGGTGACAGACACAGCTTCCTGCCGGATGTGCTCCTTTTTTTCAGCACTCTCCATGGCCCACCTACGCAGGAAGCTGCCCTGGGTGAACAAGGCTGTGTCCACTGCCATAGAGTTTTCGATCTGCTGTCCCCTTCTTGCACCAAAGCATCTGTGTCTCTTGCATGTGCATCTCCTCAGTCCCCTAAGACACTGAGCAGCTTCTGGCCCCCCACCCTGGTGTAGCTCTGTCCATTCCTGCCTGGAGCCCTCTTATCACCCAACAGACTTGAGGCTTTCTTGAAGTGGGGTCTCTGTCTCTTTTGTCTCAACCCCCACTACTTGGTATGGTGTCTGATATCTGCTCAGTGTCAGCTAGGGACAGAGCTGCCCACTAGAACCTTCACCTGGGCCCAGGGCCCCAATCCCATCCTTCCCCAGGAGATAGGCTGGTGGCTTGGTCACTGGACCAGACTGCTCAGGTCAGCCGCCATACCCAGGTTTTCGGCAATACGGTTACGGCTCATCTCCAAAGCTTCCTGCCTCAGCTGCAGCGCGTGCTGTGCGATCTCGTCGCTGGCCACATTGGAGGTCATGATGAAGATGGCGTCCTTGCAATCAATGGTCTTCCCTTTTCCATCTGTCAGCCGGCCCTGGGAAGGGAAGGAAGGGAGTGTACAGTCAGGGAGCTATGTGCCTGGGCAGGCCTTAGCACTCTCAGTTCTCACCTCCTTCAGGAGGCCTCCCCAGAGCCCTGTGTCTCCCTCCAGCCCCAGCAGCCAGCTGCTTCCTCCTCTGGGTTCTCCGAGCACTAGACTTGCACCTTGGCTGCTGTGCTCACCGCCCTGCGCTGCAACTGCTCTCCCTACTGAGTGCCTCCAGGTGAGGCTGCAGTTGCTCTCTGGCATCTCTTGGGGCACCCAACTATCCCTGGCATGCAGAAGTCAGTCACAGTTAGCCATTCATTTGTGCAACCAACACATTTTTTGGAGGCCCGCTGTGGGCCAGGATCTGTGGTGGGGTACTGGGGTCCCACTGAGCCTACAACATGCTCCCAGTATAGAGAAGCAGTGAGATACAGGAAACAAGCACTGACCATCCAATATGTTACGTATGATAATAAAGGGAAGCCCAGCATGCTGCAGGAATTCAGAGGAGGGTACTTTACATGGCTACTGTCAGGACTAGATGTGGTTATCTGGTGAAAATTCTTAGTAAACCATGCTGTTCAAATGTTCAGAGCTATTATTACTGTAGTAGGTGATATATAATGAAACAGGACAACCTCTTTTATCTTTGGAGCTGCCGCCTGGCCTAACAGGGATAAAAAATGAGATTGCTTCTTTAACCACCTTGGGAAGTTTCCTTGGAATCTTCAGCTCTTTCTAGAAGGGACAAAGGAGGCATCTATACTGGAGAAAGATGCACCAAAGAAGGAGAAAAGGAGCAAACAGTATAGGGCAGAGACA
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TGAAACATTGGCTGGTCTGTGAAATGCCCTTGGGGGACGGTGTCCAGACCCTCTGCTTTGTGACTAACATGCAGACTGAATAAACTGCATGTTTATTCCAGGCTCGTTTAGCTGGACGAGCAGTACAGACAGGGCTGAGGCTGACTCCATGGCCATGTGGGCAGAGGTCAAACCCATGATCTCTCTTCCTACAGCTTCCTAATGTCTGCGATGTTGGTCTTTTGAAGGAGGCCCCCACAGAGCTGAGCTTGCTTGGTTATCTGGGACTGCTGCTCAGTCTGAGTAGGGGAGGGTAATGAACCAGTCAGGCCTCCTCCTGGAGGTGCCCAACACTGGCCTAGTCCCCAAGGCTGACGAAACATGGTCTGGCCTGACCCCAGGACGTGGGGTGAGGAGGAACACTGGGCATAATATAGTAGCGGAAACAGGCAAGCCTCTATGGGTCCCTTCCCCTTAGAATTTTAGGGTAGGGAACGAGGAGGCTACAGACTAAATTGCAGAACTATCTGCACCTGGGCCTCTGAGCTCTTCCTCCACTCCCAGTGGAGCCATTCTGGGGACTGAGTTGCATGAGGACTAGCAGAGGGTGGCAGTTCAGTCTGGTCCCTGTCTTCTTCCAGCCAGCTGTGTTCTTAGCTGCCATACTTCTGAGCTTCCTGGGAACATGAGAAAGTCTGGCGACTATGGGGGATGGGGATCATTCTGAAGGAAATAAGGGACCTCCATCCCTCCTTGCCTTGAAGGGGGTGGAAAGGCAGCTCCTCTCCTGAAGGCTTGTTAGCAGGTTATGGGCCCACAACAAAGGGGCCAGAGTAGGGCGAAATTCCTCCTTCAGGTTTTGGGGCTGAGAAGGGGTCTTCATGGGCTGTGAGGAGGTAAGCAGGCCTGAGACTGGGTAGAGATGGGAGCGGCATGAGGGGAAGGTAAGTCAGTTGCCATGCCACAGCCAAGGGGCCTTTATTGGATGGTGAGGGCACATAGGAGCAGGCAGGTGGCTGCTAGATGGTGTTGCACACCTTCTCAGGGTGCAGTGGTGCCCGGATGTCCAGTCTGCGAGTCTTGCTGTCCTTGTCGATGATCTCCAGACGCAGCTTGGGGAGGCGCTTCTCAGCCTGGGGTGAGGGCAGTTCTGGGCTTTTGAGTAGCTGCTTGTCTGAGTCCTCCACCGTGATGCGCAAAGTACAGCCCCCTGGCAGCAGGTCCTGCTCATAGGCTGCTGCCAGCTGGTTCACCACACGGCGTTCTACCTGTCGGTGGGGAGGTGAAGTGGTCACTCCCTCGGCCTGGACCCAGCTTGGAGGTCGGCCTCCATCACTTACTGCTAGGGCAACTCAGAGACCTCCTTTGAGCCTGAGCCTCAGCTTTCTCATTTGCCAATTGGGGCTAATAACAGCTAGCTCGCAGGACTGCGCTCAAGTTTCTGAGGCTCCCAGCCCAGTTCCCTGGTCCTAGTGGGGTTCATACTGGGCTACCCTCCAGCAGGGGTTTTACTTGGTGATCATGTGTTTATGGTTCTGAATGGGCATCCACTCTGGGTGTGAATATCCAGCAACCAAGCTATAGGGAGGCAGGCTGAGAGCTCAGGGACTGGGTCTGGGGGGCCCTGGGGAGGGAGGTGTGGAGGCGCCTCATTTCTCAGGCTCCTGTGCTCACCTCATGTTTGATGGAGCGGGCGCCATAGTGCACATTGTAGCCGTCGACCAGCACATCTGCCACCTCGCGGTCCCAGAGCAGCGTGATGTTGTGCCTTTGCTTGGCCTGAGATGGGTCAGATAGAAGCATGCCTGCATGTGGCCCACTGCTTTCCATCTCTTGCCACTCTGGCCTGAGGCCAGGGCCACTGGCCCCACACCACTGTGCTCCACCTTTTATGTGTGTGGGGGTGCCCCCAGTCCAGTGTTCCAGATTTCCAGTGGCTGGCTATCCCGCCCCCACCCATGGGCAGTTCCCTCTTACTCTCTTGGCCCAGAAGTTTAGTTCCTTGTTGACGAGTTGGATGAGCTCCGAGTGGCAGAAGGGGAGGAAGTAGACGATCTCATTGATCCGTCTCAGAAACTCATCCCTCCGGAAGTGAGCCTGAAGGGCCAGGTTAGGGGTGGGATGAGCTCAGTGACCCAGAGCGGGTTAGGGAAATTACCAGACACCAGGGGAAGACTGGGGAAATTATGGGGCTTCCAGATCTTTAGGATGGCTAAGATCACCCTCCCCCAACCTTAGGCTCCAGCAGGAAGTGCCAAGAAAGACCTCTTACTTTCAGGATAGGGCGAATCACATTCTCCTTGAAGTTCTTTGAGATGGTGATCTTGTCACTTATCTGGACATCCCCTGTGGAGAAGAATCATAAACTGCTTATTCCCCACATTCAGGGAACTTTGGGGGCTGTGCCTGCCCCTTGGCCTGCCCATGGAAAGAGCCCTGGTCCTGTCCATCTGTGTGGTCCTGGTCAAGGTCTAAGGCTCTCTGGGCTTCAGCCTGGTCTCCTCCTCTGACCAGGCACTTTCGGAGGCCTTTCCAGCTCTCAAGTGTATGAAGTCTGCGATTCCTCAGGGTGGGAGTTGTGTGAGGGAGGGAGAGGAGAGGAAACGTCAGGATTAAGACTTGAGTCCTGACTTGGAGGAAGGGGGCTGCAGGGCTCGATCTTGAATGGAAAAGGTGACAGACACAGCTTCCTGCCGGATGTGCTCCTTTTTTTCAGCACTCTCCATGGCCCACCTACGCAGGAAGCTGCCCTGGGTGAACAAGGCTGTGTCCACTGCCATAGAGTTTTCGATCTGCTGTCCCCTTCTTGCACCAAAGCATCTGTGTCTCTTGCATGTGCATCTCCTCAGTCCCCTAAGACACTGAGCAGCTTCTGGCCCCCCACCCTGGTGTAGCTCTGTCCATTCCTGCCTGGAGCCCTCTTATCACCCAACAGACTTGAGGCTTTCTTGAAGTGGGGTCTCTGTCTCTTTTGTCTCAACCCCCACTACTTGGTATGGTGTCTGATATCTGCTCAGTGTCAGCTAGGGACAGAGCTGCCCACTAGAACCTTCACCTGGGCCCAGGGCCCCAATCCCATCCTTCCCCAGGAGATAGGCTGGTGGCTTGGTCACTGGACCAGACTGCTCAGGTCAGCCGCCATACCCAGGTTTTCGGCAATACGGTTACGGCTCATCTCCAAAGCTTCCTGCCTCAGCTGCAGCGCGTGCTGTGCGATCTCGTCGCTGGCCACATTGGAGGTCATGATGAAGATGGCGTCCTTGCAATCAATGGTCTTCCCTTTTCCATCTGTCAGCCGGCCCTGGGAAGGGAAGGAAGGGAGTGTACAGTCAGGGAGCTATGTGCCTGGGCAGGCCTTAGCACTCTCAGTTCTCACCTCCTTCAGGAGGCCTCCCCAGAGCCCTGTGTCTCCCTCCAGCCCCAGCAGCCAGCTGCTTCCTCCTCTGGGTTCTCCGAGCACTAGACTTGCACCTTGGCTGCTGTGCTCACCGCCCTGCGCTGCAACTGCTCTCCCTACTGAGTGCCTCCAGGTGAGGCTGCAGTTGCTCTCTGGCATCTCTTGGGGCACCCAACTATCCCTGGCATGCAGAAGTCAGTCACAGTTAGCCATTCATTTGTGCAACCAACACATTTTTTGGAGGCCCGCTGTGGGCCAGGATCTGTGGTGGGGTACTGGGGTCCCACTGAGCCTACAACATGCTCCCAGTATAGAGAAGCAGTGAGATACAGGAAACAAGCACTGACCATCCAATATGTTACGTATGATAATAAAGGGAAGCCCAGCATGCTGCAGGAATTCAGAGGAGGGTACTTTACATGGCTACTGTCAGGACTAGATGTGGTTATCTGGTGAAAATTCTTAGTAAACCATGCTGTTCAAATGTTCAGAGCTATTATTACTGTAGTAGGTGATATATAATGAAACAGGACAACCTCTTTTATCTTTGGAGCTGCCGCCTGGCCTAACAGGGATAAAAAATGAGATTGCTTCTTTAACCACCTTGGGAAGTTTCCTTGGAATCTTCAGCTCTTTCTAGAAGGGACAAAGGAGGCATCTATACTGGAGAAAGATGCACCAAAGAAGGAGAAAAGGAGCAAACAGTATAGGGCAGAGACA
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Task1_train_16281
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This gene mutation involves CLPB, LOC126861258 (ClpB family mitochondrial disaggregase| MED14-independent group 3 enhancer GRCh37_chr11:72012242-72013441) on Chromosome 11. Is it associated with any clinical condition, or is it benign?
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Pathogenic; 3-methylglutaconic aciduria, type VIIB
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GGAGACAGGGCTTCCATGTATGGCTGATTGTACTTCAGTCAGCAGTTGCCTTCTGTTTTTTGGGCCAAGAATGCCATCAGAGGTGCCTCTCCAGGGAGACCAGAGATCAAACAGGCCGCGATGCTCACCCTCCCTCAGCGGCATGGTCCCGTCCCTTGCGTGCTTCACTGAGACGGACCTCGCTCTTTTGGCCCTAGCTGCGTGGCAGTCATTCAAGCTGCAGGATCTAGAACTGGGCTGCCTGGGTTTGAATCCTTGATTCTCTCTCCCCAGCTGCATGACCACAGGTAAATGACTTAATCTTACTTTGCTTCAGTTTCCACATCTGTTCAATGGAGGCCGTAATAATAGCTAGCTTTGGAGGGTTGTTGAAAGGGTTAAATTGATACACATAAGCCTCTGAAGACAGCGAATGGCACACAAAATGCAAAATGCCAGCTACTACCATGTCTCCTTTCCACCTGTCTACCAGGCAGAGAGCTCCAAGAGGGCACATTCGGGTCTGGTCATAGCTGTGCACTTGAATCCCATCAAGAGGCTGGAATGGAGTAGAGGCCTCAGTGTACACGTGAGTAACTGAGTATGTGACCTCTGAAGGACTGGTCTCTTCTTCCTCAGCAGAGGTTCAGGGGCAGGGAGCAGCTGAAGGGCTAGGAAGATACAACGGAACGGGCAGGGGCAAGGAGGCTGGGCCAGGTGGGGAAGGCAGTGAGCAGCTGGTAGGAGATCTGGATCTGGATCTTCCTGGCTTGGTACCTGATGTGCTGTTCGGTCTGGAGGAGTCCCCTCCCTGTGGCCTCCTATGACATGGGAAGCAAACCACCTTTTTGTTTTCCTAGGGCTGCAGGAGACTAGGTAGAAAGGTGAGCTGGACTCATGGCCAGGTGCTAGCTAATATAGCCCCTGCATGAGAGAAGAGAGGCCTCATCCCCGGTTCAGTCCTTGGCTCCTCACGCTCTCTTGATGGAGCAGGGCCCCTGAAAAGGTGGAAGTCATCTTCTTCCGTGATCGTAAGCAATCCCTCGCCTGGTTCAAGGTAAACAGTGGTATGGGGGGAGAATTGGGGCTCTGGGATCAGACATATCTGCAGCCCAATCTTGGCTCTTTACACAGCAGCTGTGGCCTTAGGCATGTCTTTTATAACCTCTCTGAACCTCAGTTTCTTCATCTGTAAAAAATGAGCTAATTTCTCCCTTGCCTGTTAGGAATTTTTCTACCTACCTTGTGAGGATTAGTGATAATGGCTGTAACGTCTTTAGTACAGGTCTAGTACACAGAAGGTACTGGATAGAAGTAAGCTCTTCTCTCCATTTAGAACTTACCCCTACGAGCAGGGGAACTGGACAGTCTGTGAGAACCCTCAGATTCTCAGAAGAGAAAGGCTCCATGAATCAGAGTATCAGCATCTCACCATTAGCAGCAACAATATTAGCATTTTAAAGAACTGCAGGAGACAATGTTTGGCACACAGGGAGGAACAAGAGCTGTCTGAGGCAGAAGGATTTTTGGGGCTTCTCTGATTCAGCCTCCTCGTTTGTCACATGAGATCTCTGATGCCTAGAGATGGGCAGTGACTTGCCAAGGCCACAAAGCCAGTCAGGAGCAGAGCTGGAACTAAAAATTCATGTCTCGCTCTCATGGCACCTCTGCCATACCATGTCTCTCTAGAAGGTGGGCTGAGCAGCCACACAATTTCAACTCTTAGGCAGGGCTGGTCTTCGCTTGAGTGCCCCACCCAGGCCCTAGTGCAGAGGGGCTAAGTTGCACCTACTGGATGAATGAATGTACACATGCGGGAGCAGGAAGCCGAGGAATGACCAGCTAGCCTCTGGGCCCTTGCTTTCTGCTGTTCACAGTCCCCCTTATCTCCAGGTGTCCCCCCGCTCCATCCTGGCCCAAGGTGACTCACCTCATCAAACAGCTGCAGCATGATGGTGAGCACATCTGGATGGGCCTTGTCTACTTCATCAAAGAGCACCACAGCATTGGGGCACTGCTTCAACTTCTTGGTCAGCTGGCCACCCTCCTCATGGCCAACGTAGCCTGGTGGAGACCCAATAAACTTGGCCACCTGGTAGAAGGAAGGAAACATGCTAGGAAGGCCTTTCTGTGCTTTTAGTTTCCAACATGGGGCATGCATGGGAAGATGACTTTATACGCTATTAAGGTTGCCTCTCTCAACAGAGATGATTGGCTGTCCATCTCCTGGTGTGGCAGATAGATCTTCTCTATGTTTATTCTTCAGAGCAAATCCTATGTGAAACAAATCAGTGACCCTGCTGCACACCTGTGCTCCCAACGACAAATCCCAAGGCTGCTGGAATTATCTGAGGCCCAAATGACAAGACCCCGGCAGTCATGCTGACAAGCCCTCCAAACCATGCTTCAATCAAGGACTGTCATCACTCACCTCGTGTCGCTCCTGGAACTCGGACATGTCCAGCCTGATGAAGCCCTGTGTGGAAACAAGCAAGTACCAACTCCGTTTGGAGGCAGGAAAGTGAAGAGAAGGGTTAGGGAGGAGAGCACCTCAACTATCCCCAAGGCTTTCACACCACACCAACATAAGATCTTCTATCTCACGCTCAAGATGTTTTTTTCTGACTTCCTGTCTCCTTTTCTGTGCACTCATTTCCTACGAGTCCCTCATTCTCTTCCTTAAAAGACCCAAATCATGTACCTGACCTTCTAAATCTGACTTGGGGTGTCTTCTTTCAGGGAGGCCTCTCCTGTTCTGATCACCACATCATCCACCCACCCATCCATCCATTCCACGTTTCCTGAGGGCATCCTGTGTGTGCTGGACACCGGAGTTACAACAGGGAACAAGTCTTGGTCTCTGTCCTTAAGAAGCACCCCATCGAATGGTGCAGACATGGACAAAGTCAGTCACGATCAGTGTGGACTGTGGTGCGAGGGAGGAGAGAAACACTCAGATGGCTCCAGAATGCCTCTCAACTCTGCAAGTCTGTGTGATGCCCGTGTCCCTTTGATTTACTTTTCTTCAAAATGAATATATTTTAAAATGTATTTACATTTCTTCATTTCATTAAAAAAGATATCCATAACATAGCTTTACAGCCCTTTTCTCTCCACCACAGGGTGTAGGGGTGATTTCCGAGGAAGTGGCCCCATGGGTGAGGGCCATGGTTAGCCCTTGGGGAAGAGAACAGCTTGCATTATGTGATCTGAAGAGTTAACACAGGCAGAGTGCCCACTGGTTTTCAAGAAGCATTACCTGATTAGGGAGCTGTAAAGGCATCCACAGGTGCCCTGTCTAGCCACAGCCAGGACCACAGTTCCCCACAGTCCCCCGGGCTCCTCTCCTACTGGCACATGCCTCCATCTAAGAGACAGCATTCACTGAATCCTGCTTCTCCTGAGAGCCGGTGATGATGGGGGTGCCAAGATTCTCAGCGGGAGGTAGCTATGTCTGAAATCCAGGGCTATATTCTAGCTTGGCCACTGGTCAGAAATTCACGCCATGATGTACTTTTAGTTCTTTCTCTGTCCTGTCATTCTACAGCTGAGACACAGGGTGGCAAGAAGAACCCTGGGCTGGGAGCCAGGGGGCTCGGGTTCCAGTCCTAGTTCTGCCTGCCTGTGGAGCCTTGGACATGCTGCCTCCCCTTTTTGAGCTGCAGTTTTGTCCTGTGTTACAGAAGGCTCTTGGCTCCTCTCCCTGCCTCACCAGGGGTCTGAGGATCTAATCCAAGAGGTGGGACAGGGCTTAGAGAAGTTATTAAGGCCACATGGGGGAAAGCACTGCTATCAGCACATGGGGCATAAGCCAGAAAGCATTTCCAGAGGGTCCCTAGGCTGCTCAGTCAAGAGATCTGCAGGTTTCAGGATTTACTGGGTATTTACTATGTGCCTGGCAATGTTTTAGGCAAGCTATAAAGGGCTTAGAACATGTACAAGTCTCTGAGGTAAGCACTACTATCATCTCCACTTTACAGATGAGAAAACTAAGTCACAGATTAAAGTAACTTGCTCAAGGTCACCTGCGCTTGGCAATTCAGCTCCAAGTCTGTGCTCTTAGCCATCATGCTACACTGCCTCATAGCTTCCTCTCTGCCAATCAGCTGGGCTCTTG
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GGAGACAGGGCTTCCATGTATGGCTGATTGTACTTCAGTCAGCAGTTGCCTTCTGTTTTTTGGGCCAAGAATGCCATCAGAGGTGCCTCTCCAGGGAGACCAGAGATCAAACAGGCCGCGATGCTCACCCTCCCTCAGCGGCATGGTCCCGTCCCTTGCGTGCTTCACTGAGACGGACCTCGCTCTTTTGGCCCTAGCTGCGTGGCAGTCATTCAAGCTGCAGGATCTAGAACTGGGCTGCCTGGGTTTGAATCCTTGATTCTCTCTCCCCAGCTGCATGACCACAGGTAAATGACTTAATCTTACTTTGCTTCAGTTTCCACATCTGTTCAATGGAGGCCGTAATAATAGCTAGCTTTGGAGGGTTGTTGAAAGGGTTAAATTGATACACATAAGCCTCTGAAGACAGCGAATGGCACACAAAATGCAAAATGCCAGCTACTACCATGTCTCCTTTCCACCTGTCTACCAGGCAGAGAGCTCCAAGAGGGCACATTCGGGTCTGGTCATAGCTGTGCACTTGAATCCCATCAAGAGGCTGGAATGGAGTAGAGGCCTCAGTGTACACGTGAGTAACTGAGTATGTGACCTCTGAAGGACTGGTCTCTTCTTCCTCAGCAGAGGTTCAGGGGCAGGGAGCAGCTGAAGGGCTAGGAAGATACAACGGAACGGGCAGGGGCAAGGAGGCTGGGCCAGGTGGGGAAGGCAGTGAGCAGCTGGTAGGAGATCTGGATCTGGATCTTCCTGGCTTGGTACCTGATGTGCTGTTCGGTCTGGAGGAGTCCCCTCCCTGTGGCCTCCTATGACATGGGAAGCAAACCACCTTTTTGTTTTCCTAGGGCTGCAGGAGACTAGGTAGAAAGGTGAGCTGGACTCATGGCCAGGTGCTAGCTAATATAGCCCCTGCATGAGAGAAGAGAGGCCTCATCCCCGGTTCAGTCCTTGGCTCCTCACGCTCTCTTGATGGAGCAGGGCCCCTGAAAAGGTGGAAGTCATCTTCTTCCGTGATCGTAAGCAATCCCTCGCCTGGTTCAAGGTAAACAGTGGTATGGGGGGAGAATTGGGGCTCTGGGATCAGACATATCTGCAGCCCAATCTTGGCTCTTTACACAGCAGCTGTGGCCTTAGGCATGTCTTTTATAACCTCTCTGAACCTCAGTTTCTTCATCTGTAAAAAATGAGCTAATTTCTCCCTTGCCTGTTAGGAATTTTTCTACCTACCTTGTGAGGATTAGTGATAATGGCTGTAACGTCTTTAGTACAGGTCTAGTACACAGAAGGTACTGGATAGAAGTAAGCTCTTCTCTCCATTTAGAACTTACCCCTACGAGCAGGGGAACTGGACAGTCTGTGAGAACCCTCAGATTCTCAGAAGAGAAAGGCTCCATGAATCAGAGTATCAGCATCTCACCATTAGCAGCAACAATATTAGCATTTTAAAGAACTGCAGGAGACAATGTTTGGCACACAGGGAGGAACAAGAGCTGTCTGAGGCAGAAGGATTTTTGGGGCTTCTCTGATTCAGCCTCCTCGTTTGTCACATGAGATCTCTGATGCCTAGAGATGGGCAGTGACTTGCCAAGGCCACAAAGCCAGTCAGGAGCAGAGCTGGAACTAAAAATTCATGTCTCGCTCTCATGGCACCTCTGCCATACCATGTCTCTCTAGAAGGTGGGCTGAGCAGCCACACAATTTCAACTCTTAGGCAGGGCTGGTCTTCGCTTGAGTGCCCCACCCAGGCCCTAGTGCAGAGGGGCTAAGTTGCACCTACTGGATGAATGAATGTACACATGCGGGAGCAGGAAGCCGAGGAATGACCAGCTAGCCTCTGGGCCCTTGCTTTCTGCTGTTCACAGTCCCCCTTATCTCCAGGTGTCCCCCCGCTCCATCCTGGCCCAAGGTGACTCACCTCATCAAACAGCTGCAGCATGATGGTGAGCACATCTGGATGGGCCTTGTCTACTTCATCAAAGAGCACCACAGCATTGGGGCACTGCTTCAACTTCTTGGTCAGCTGGCCACCCTCCTCATGGCCAACGTAGCCTGGTAGAGACCCAATAAACTTGGCCACCTGGTAGAAGGAAGGAAACATGCTAGGAAGGCCTTTCTGTGCTTTTAGTTTCCAACATGGGGCATGCATGGGAAGATGACTTTATACGCTATTAAGGTTGCCTCTCTCAACAGAGATGATTGGCTGTCCATCTCCTGGTGTGGCAGATAGATCTTCTCTATGTTTATTCTTCAGAGCAAATCCTATGTGAAACAAATCAGTGACCCTGCTGCACACCTGTGCTCCCAACGACAAATCCCAAGGCTGCTGGAATTATCTGAGGCCCAAATGACAAGACCCCGGCAGTCATGCTGACAAGCCCTCCAAACCATGCTTCAATCAAGGACTGTCATCACTCACCTCGTGTCGCTCCTGGAACTCGGACATGTCCAGCCTGATGAAGCCCTGTGTGGAAACAAGCAAGTACCAACTCCGTTTGGAGGCAGGAAAGTGAAGAGAAGGGTTAGGGAGGAGAGCACCTCAACTATCCCCAAGGCTTTCACACCACACCAACATAAGATCTTCTATCTCACGCTCAAGATGTTTTTTTCTGACTTCCTGTCTCCTTTTCTGTGCACTCATTTCCTACGAGTCCCTCATTCTCTTCCTTAAAAGACCCAAATCATGTACCTGACCTTCTAAATCTGACTTGGGGTGTCTTCTTTCAGGGAGGCCTCTCCTGTTCTGATCACCACATCATCCACCCACCCATCCATCCATTCCACGTTTCCTGAGGGCATCCTGTGTGTGCTGGACACCGGAGTTACAACAGGGAACAAGTCTTGGTCTCTGTCCTTAAGAAGCACCCCATCGAATGGTGCAGACATGGACAAAGTCAGTCACGATCAGTGTGGACTGTGGTGCGAGGGAGGAGAGAAACACTCAGATGGCTCCAGAATGCCTCTCAACTCTGCAAGTCTGTGTGATGCCCGTGTCCCTTTGATTTACTTTTCTTCAAAATGAATATATTTTAAAATGTATTTACATTTCTTCATTTCATTAAAAAAGATATCCATAACATAGCTTTACAGCCCTTTTCTCTCCACCACAGGGTGTAGGGGTGATTTCCGAGGAAGTGGCCCCATGGGTGAGGGCCATGGTTAGCCCTTGGGGAAGAGAACAGCTTGCATTATGTGATCTGAAGAGTTAACACAGGCAGAGTGCCCACTGGTTTTCAAGAAGCATTACCTGATTAGGGAGCTGTAAAGGCATCCACAGGTGCCCTGTCTAGCCACAGCCAGGACCACAGTTCCCCACAGTCCCCCGGGCTCCTCTCCTACTGGCACATGCCTCCATCTAAGAGACAGCATTCACTGAATCCTGCTTCTCCTGAGAGCCGGTGATGATGGGGGTGCCAAGATTCTCAGCGGGAGGTAGCTATGTCTGAAATCCAGGGCTATATTCTAGCTTGGCCACTGGTCAGAAATTCACGCCATGATGTACTTTTAGTTCTTTCTCTGTCCTGTCATTCTACAGCTGAGACACAGGGTGGCAAGAAGAACCCTGGGCTGGGAGCCAGGGGGCTCGGGTTCCAGTCCTAGTTCTGCCTGCCTGTGGAGCCTTGGACATGCTGCCTCCCCTTTTTGAGCTGCAGTTTTGTCCTGTGTTACAGAAGGCTCTTGGCTCCTCTCCCTGCCTCACCAGGGGTCTGAGGATCTAATCCAAGAGGTGGGACAGGGCTTAGAGAAGTTATTAAGGCCACATGGGGGAAAGCACTGCTATCAGCACATGGGGCATAAGCCAGAAAGCATTTCCAGAGGGTCCCTAGGCTGCTCAGTCAAGAGATCTGCAGGTTTCAGGATTTACTGGGTATTTACTATGTGCCTGGCAATGTTTTAGGCAAGCTATAAAGGGCTTAGAACATGTACAAGTCTCTGAGGTAAGCACTACTATCATCTCCACTTTACAGATGAGAAAACTAAGTCACAGATTAAAGTAACTTGCTCAAGGTCACCTGCGCTTGGCAATTCAGCTCCAAGTCTGTGCTCTTAGCCATCATGCTACACTGCCTCATAGCTTCCTCTCTGCCAATCAGCTGGGCTCTTG
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Task1_train_16282
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This variant lies on Chromosome 11 and affects the gene CLPB (ClpB family mitochondrial disaggregase). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Neutropenia, severe congenital, 9, autosomal dominant
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GTTGAGAGACTGGATTGATTCTGGTTTTATTTCTTCCCCTAATAGGTGACCTTAGATAAGCCTAAGAATGCTGTAGGGCCTCAGTTTTCTCATCTGAAAAGTGGGTCTAATTTAGCATCCATGCTATCTTCCCCATAGGATCAAATGGGAGAGTAGATGGGGCACTGCTATGGTAAGTAGGAAGTGACGAATAAATACAAGTCAAGGAATAGGCACTTGCTGTGTGCTCACCATGATGTGATGACATAAGTGATGAGCACACAGCATCGTCACTTGATGCTCACCATAACCTAAGATATGGGTTGGAGGGCTTTCACCTTGAGGCAAGAGAGCTGAAACTTCAAGGGGTAAAGTTTACCTGCCTAGGGCCAGTAGAAAGTAGAAGCACCGGAACCTGAAGCAAAGAATGGTTGCTCCAGAGCTCTGTCCACCACAGTGCACTGCCTCCGAGGGTGGTGGTGTTACTTCCTTCTGAGTGAGGCATGCACTGAAGGATGCCAACATCATCCTGCACTGGGGTGAATTTGTCTCCCATTCAGTTGTGCCAACTAAAAAATTACTTGCATTATTAGTCTTTTAACAAGCCCCCTCTCCTTTCTACATCAGCAAGTCAGTAGATACTTTCCTTCTACTTCTACTGTGTATGAAGACATATGAAGACAGCTTGGATAAGGAGATTATAATTTGTAATTAAATATTAACCTTTCTGACAGTATTAAAATTAAACCACTCAGAATTCTTCATCCCTAATCAGGTGGTTCCTGCCCATAACTACATCTTCCCTAATAGTCCTGCTAGTTTATGGCCCTTTCCAGAGTGCTAATTGTTTCAATCGCTGCCAACCTGATGAATTGACTTAAAAATGCTATCTCGGTCGGAGCGCATTAGCATGCTATGCGCTGCTTCTTGCTTGCCTGCTTGTCAAGTGGGTCTGCTCCAGGTTTGGTGGAGGCAGAGCACAGCTACTGGCAGAGCTAGGGGGAGTTTAAGAGCCTTCAGCCATTTATGAAGCAGAAGGGGGCTCAGGAGGACACAATCTGAGCTACCTTGTTTCTGTGGCTGCCAGTGGGGCAGGCAAGCCAGAAAGAGAACAGGAGTCCAAGACTCTGTGCTGCTGGGGCCACTTGGCTGGCAGAGGCCCAAGAAACTCCTCATTGCCTTGGCCAGGGAGGCTTTCCTTAGAAAGGCAAGAGCATCTGGGGTCTCGGGCGACCTCCTGCCCTGGATGCTGGGAAGGCTGGTAGGAGAATGTTTGGCTTTCAGTGAAATGTTTTTGCACTCTCTCCGAGGACTGCTGTCTCTGCACAAAAGCATTTCCTTTCTCCCTAAAAAGTTAAACTGAGCAGGCCTTGGAAAGCCTGAGTGTGAACAAACAGGGGATGGGGATGGCCCTCTCCTGTGGAGAATCCAGGGCTCTGAGCCATGGAGGAAGGGGGACTATAAGTATCCCAGGCTCAAGACATAAGAAACCATGTTTAAAAGCTCATGCAGGATAGTGAGAGGCAACAAGGCATCCTCTTATTCCCACTTGTTTTCTCCTACAGCCCCCAAGACTCCCATTAGCACAGCCATGACTGCACTGAACAGTAATGTTGTCTTTCTGAAGCTGTTTCCCCCTCCAACCTGAGCTCCTTGGAGCAGGGGGAGTGTCTTAATAAATGCTGTATTAGCAGCATCTAGTACAACACCTGGCATGGCACAGATGCTTGAAAATGTTGTATGGTAGATCTCACTTTGTTTCCTCAAGAGTCAGGCAGGGCAAGGATTATTATTCCTATTTTACAGATGAAGAAACTGAGGCACAAAGAGGTGGGATAACTTGCCCAAATCTCTGGAGCAACTGGTGGCCAAGTTGGGGCCAGAGCTGAGGTCTGCTTCCTGGGTCAGGGCCCATCTTTTTGATTGCCTATTACTGAATTCAGAGGGTCAGATTTTTTGGGATAGCAGGAATGGTGAGGTCTCCACGATCTGCAGATCAGACCTAGGTCCCAGTTCTTACCTTTTTAGCATCTTTGTGCATATATTTGGCTGTCTGCTTGGCCAGCTCTGTTTTTCCTAGTAAGAAAGAAGGGGGAGGTGTTGGGTTAGAACCAGGTGACTAACCGCTGGAATGAAAGAATACTAGAAATGCACGGACACTAGAAAGAATATATTCTATGGATGAGAATGTTGAGGCGCAGAAAGGATCAGCGACTCTCCCACAGTCACCTAGGGAGTTAATGGTGAAGCTGGGACCAAAATCAAAGTCTGCACCTGCATCTTAATTTTTCTGGGATTGGGATTGAGGCCTTTTCTCTGTAGCACCATCCTAAGAGTGACAGGCTGACTTTATAATCCAGAACCAACTTGCTTTTTAAAGCCCAGTACAAACCTCACCTCTTCTAGGAGTCCCCAGGCCTCCTGGCTCACTGCCCTGCATCCCTCTCAATACCCACAGTCCTGCCATTTAGCCAGGCCCTGGAACCACATGGCAGATAGAGGGTGGGAGGGGCTGAAGAGTACCTCTCACTGTGGCTTCACGGTCCTTCTTTGTAACACAGAGAAGGAATGACAATACTGAAGTGGGGGCTCTGAAGGGCCATTTGGTGGATGGTAACCTTTGGAAGTCCCTGACTAGTATAAAAGTCAAGTTCTGTAGCATCATGGTCAGGTGGTGGTATCCTTTTGGGGGCCTACATCTGAGGGAGAGGCCCATGAAGATGCTGGGAGGGGAAGAGGAGGAAACTAAACCATGAAATTTCCCATCAGGTTCCCTTCAGGTTCCAGTGCTTCTGGTGGGAGGTGGTAGTGAAGGAATGGGGGGGTTCTGTCAGGGCAGAGAATGAAGGGGTAAGAATGCCTCGGATAATCCAGCCCAACTGGCTAGAAAAATACTCAACCCATCTTACTGCAACCAATTTTGCTATCCACCTGGCACCATGGTGGTCATTAGGGGCCTTCTTTAGCATTTACAGCTAGGCTGTACTGAACATGGTTGATGTGCTGGGCAGAGGAGGTGGTTCAACTGTTCCCGAAGGGGAGGCTCTGCGCATGCAGAGTGGCTGGACCAGGGTTAATGGGCCCTGAAGGGCCTGGTCCTCCATGTGAATCAGTCTTAGCACCACAACTTCCAGAGGGAGGGGCATATTGCAGCTCTTCATAACATGACAGATGGTAACAGAGTCCTCTTTCTTGGTGGCTCTGTAATCTGGAGGCCGTTGCTTTTAGAGCTCAAGTTGACCTAGAGCTGGACCTGCTGACCCTGGCCCGCAGCAGCTGGGGCTGTCAGACTTGGGCCGGGCACTACCCTAGCTCTCTGTCCCCACTGGCTGATCTGCTCCCAATTACCTATTCCAGATGATCCCAAGAAGAGGAAGACCAGAGGGTGTTCTTCATCGTACCAGCCATTCTCCTTCCTCCGGATCGCTACGGCCAAACACACAAGATCAGGGGACAGGGAGGGAGGCAGATAAATCAATGACACAAAAGGCAGGATAATTATCACTAAGTATACAATATGTTTTACTGCTCTGCGCCCACTCAAAGTCCTCACTACCATTAGTGCTGCCTAATCTGATTAGCTGGCAAGGCCCCTAGAGACACGTAATCAGGTTAGCATGGATTTGGAAAGCTGCCCAGAGCAGATTTCGGATAAAGTTTTCCAGGATGAGCACTCAGCGTTGCTAGGGAAACTGAAAGGCGGGTGGATGGTGAATGGAGGTGAAGGGGGTGGGGGACTGGTGAAGGAGAATTCGAGAGGAACTTCTGCTCTCACTGGTTACTCATCTACTCATCGCTAGTGGGACTACGGGCCGCCTCCTATGCAAATACAAGAGGCAGAAGCCCATGGCAGGCCCTTGGGGATGTGGGGTGTGAGCCCTGGACTCTTTCCTGTCTGGGGAAGCTAAGGTCTGGTCCACTGTCTGGGTCAGAAAGTGGAAACACAGCCAAATGCATTTTCTGGAAGTCAATCAAAGGCAATGTGGAGCTCAGGGCATGGAAGGGGTAAGCCACATGGTTACCAGAGATGCTGACCATAGCCTCCAGTGGTGGAGGGAGTGGGGAGCACGGGGAGTGGGACAGATAGGTACCAGGTTCCTTGGAGGCTCAACTCTGC
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GTTGAGAGACTGGATTGATTCTGGTTTTATTTCTTCCCCTAATAGGTGACCTTAGATAAGCCTAAGAATGCTGTAGGGCCTCAGTTTTCTCATCTGAAAAGTGGGTCTAATTTAGCATCCATGCTATCTTCCCCATAGGATCAAATGGGAGAGTAGATGGGGCACTGCTATGGTAAGTAGGAAGTGACGAATAAATACAAGTCAAGGAATAGGCACTTGCTGTGTGCTCACCATGATGTGATGACATAAGTGATGAGCACACAGCATCGTCACTTGATGCTCACCATAACCTAAGATATGGGTTGGAGGGCTTTCACCTTGAGGCAAGAGAGCTGAAACTTCAAGGGGTAAAGTTTACCTGCCTAGGGCCAGTAGAAAGTAGAAGCACCGGAACCTGAAGCAAAGAATGGTTGCTCCAGAGCTCTGTCCACCACAGTGCACTGCCTCCGAGGGTGGTGGTGTTACTTCCTTCTGAGTGAGGCATGCACTGAAGGATGCCAACATCATCCTGCACTGGGGTGAATTTGTCTCCCATTCAGTTGTGCCAACTAAAAAATTACTTGCATTATTAGTCTTTTAACAAGCCCCCTCTCCTTTCTACATCAGCAAGTCAGTAGATACTTTCCTTCTACTTCTACTGTGTATGAAGACATATGAAGACAGCTTGGATAAGGAGATTATAATTTGTAATTAAATATTAACCTTTCTGACAGTATTAAAATTAAACCACTCAGAATTCTTCATCCCTAATCAGGTGGTTCCTGCCCATAACTACATCTTCCCTAATAGTCCTGCTAGTTTATGGCCCTTTCCAGAGTGCTAATTGTTTCAATCGCTGCCAACCTGATGAATTGACTTAAAAATGCTATCTCGGTCGGAGCGCATTAGCATGCTATGCGCTGCTTCTTGCTTGCCTGCTTGTCAAGTGGGTCTGCTCCAGGTTTGGTGGAGGCAGAGCACAGCTACTGGCAGAGCTAGGGGGAGTTTAAGAGCCTTCAGCCATTTATGAAGCAGAAGGGGGCTCAGGAGGACACAATCTGAGCTACCTTGTTTCTGTGGCTGCCAGTGGGGCAGGCAAGCCAGAAAGAGAACAGGAGTCCAAGACTCTGTGCTGCTGGGGCCACTTGGCTGGCAGAGGCCCAAGAAACTCCTCATTGCCTTGGCCAGGGAGGCTTTCCTTAGAAAGGCAAGAGCATCTGGGGTCTCGGGCGACCTCCTGCCCTGGATGCTGGGAAGGCTGGTAGGAGAATGTTTGGCTTTCAGTGAAATGTTTTTGCACTCTCTCCGAGGACTGCTGTCTCTGCACAAAAGCATTTCCTTTCTCCCTAAAAAGTTAAACTGAGCAGGCCTTGGAAAGCCTGAGTGTGAACAAACAGGGGATGGGGATGGCCCTCTCCTGTGGAGAATCCAGGGCTCTGAGCCATGGAGGAAGGGGGACTATAAGTATCCCAGGCTCAAGACATAAGAAACCATGTTTAAAAGCTCATGCAGGATAGTGAGAGGCAACAAGGCATCCTCTTATTCCCACTTGTTTTCTCCTACAGCCCCCAAGACTCCCATTAGCACAGCCATGACTGCACTGAACAGTAATGTTGTCTTTCTGAAGCTGTTTCCCCCTCCAACCTGAGCTCCTTGGAGCAGGGGGAGTGTCTTAATAAATGCTGTATTAGCAGCATCTAGTACAACACCTGGCATGGCACAGATGCTTGAAAATGTTGTATGGTAGATCTCACTTTGTTTCCTCAAGAGTCAGGCAGGGCAAGGATTATTATTCCTATTTTACAGATGAAGAAACTGAGGCACAAAGAGGTGGGATAACTTGCCCAAATCTCTGGAGCAACTGGTGGCCAAGTTGGGGCCAGAGCTGAGGTCTGCTTCCTGGGTCAGGGCCCATCTTTTTGATTGCCTATTACTGAATTCAGAGGGTCAGATTTTTTGGGATAGCAGGAATGGTGAGGTCTCCACGATCTGCAGATCAGACCTAGGTCCCAGTTCTTACCTTTTTAGCATCTTTGTGCATATATTTGGCTGTCTGCTTGGCCAGCTCTTTTTTTCCTAGTAAGAAAGAAGGGGGAGGTGTTGGGTTAGAACCAGGTGACTAACCGCTGGAATGAAAGAATACTAGAAATGCACGGACACTAGAAAGAATATATTCTATGGATGAGAATGTTGAGGCGCAGAAAGGATCAGCGACTCTCCCACAGTCACCTAGGGAGTTAATGGTGAAGCTGGGACCAAAATCAAAGTCTGCACCTGCATCTTAATTTTTCTGGGATTGGGATTGAGGCCTTTTCTCTGTAGCACCATCCTAAGAGTGACAGGCTGACTTTATAATCCAGAACCAACTTGCTTTTTAAAGCCCAGTACAAACCTCACCTCTTCTAGGAGTCCCCAGGCCTCCTGGCTCACTGCCCTGCATCCCTCTCAATACCCACAGTCCTGCCATTTAGCCAGGCCCTGGAACCACATGGCAGATAGAGGGTGGGAGGGGCTGAAGAGTACCTCTCACTGTGGCTTCACGGTCCTTCTTTGTAACACAGAGAAGGAATGACAATACTGAAGTGGGGGCTCTGAAGGGCCATTTGGTGGATGGTAACCTTTGGAAGTCCCTGACTAGTATAAAAGTCAAGTTCTGTAGCATCATGGTCAGGTGGTGGTATCCTTTTGGGGGCCTACATCTGAGGGAGAGGCCCATGAAGATGCTGGGAGGGGAAGAGGAGGAAACTAAACCATGAAATTTCCCATCAGGTTCCCTTCAGGTTCCAGTGCTTCTGGTGGGAGGTGGTAGTGAAGGAATGGGGGGGTTCTGTCAGGGCAGAGAATGAAGGGGTAAGAATGCCTCGGATAATCCAGCCCAACTGGCTAGAAAAATACTCAACCCATCTTACTGCAACCAATTTTGCTATCCACCTGGCACCATGGTGGTCATTAGGGGCCTTCTTTAGCATTTACAGCTAGGCTGTACTGAACATGGTTGATGTGCTGGGCAGAGGAGGTGGTTCAACTGTTCCCGAAGGGGAGGCTCTGCGCATGCAGAGTGGCTGGACCAGGGTTAATGGGCCCTGAAGGGCCTGGTCCTCCATGTGAATCAGTCTTAGCACCACAACTTCCAGAGGGAGGGGCATATTGCAGCTCTTCATAACATGACAGATGGTAACAGAGTCCTCTTTCTTGGTGGCTCTGTAATCTGGAGGCCGTTGCTTTTAGAGCTCAAGTTGACCTAGAGCTGGACCTGCTGACCCTGGCCCGCAGCAGCTGGGGCTGTCAGACTTGGGCCGGGCACTACCCTAGCTCTCTGTCCCCACTGGCTGATCTGCTCCCAATTACCTATTCCAGATGATCCCAAGAAGAGGAAGACCAGAGGGTGTTCTTCATCGTACCAGCCATTCTCCTTCCTCCGGATCGCTACGGCCAAACACACAAGATCAGGGGACAGGGAGGGAGGCAGATAAATCAATGACACAAAAGGCAGGATAATTATCACTAAGTATACAATATGTTTTACTGCTCTGCGCCCACTCAAAGTCCTCACTACCATTAGTGCTGCCTAATCTGATTAGCTGGCAAGGCCCCTAGAGACACGTAATCAGGTTAGCATGGATTTGGAAAGCTGCCCAGAGCAGATTTCGGATAAAGTTTTCCAGGATGAGCACTCAGCGTTGCTAGGGAAACTGAAAGGCGGGTGGATGGTGAATGGAGGTGAAGGGGGTGGGGGACTGGTGAAGGAGAATTCGAGAGGAACTTCTGCTCTCACTGGTTACTCATCTACTCATCGCTAGTGGGACTACGGGCCGCCTCCTATGCAAATACAAGAGGCAGAAGCCCATGGCAGGCCCTTGGGGATGTGGGGTGTGAGCCCTGGACTCTTTCCTGTCTGGGGAAGCTAAGGTCTGGTCCACTGTCTGGGTCAGAAAGTGGAAACACAGCCAAATGCATTTTCTGGAAGTCAATCAAAGGCAATGTGGAGCTCAGGGCATGGAAGGGGTAAGCCACATGGTTACCAGAGATGCTGACCATAGCCTCCAGTGGTGGAGGGAGTGGGGAGCACGGGGAGTGGGACAGATAGGTACCAGGTTCCTTGGAGGCTCAACTCTGC
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Task1_train_16283
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This alteration occurs within gene CLPB (ClpB family mitochondrial disaggregase) located on Chromosome 11. Is it associated with a disease or is it a benign variant?
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Pathogenic; 3-methylglutaconic aciduria, type VIIB
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GATTTTAAGGCACGGCAGAGATAATGTCCTTGGTGAACACTCCAATTCTTAGCTACAAATGTCTTGCCACAGAGTTTTCCAACGGACAAAGGAAGAAGCTTTCTGCTTGGGGATGTTTTCTAAGTCTCTGCTTCTGAGAACAGCAAGTTCTCGCTCCAGAAGCATCAGTCATCCCAAGAACTGCTGCCACATCCACAAGTAGTCCTGCCCTTCAGTGGCTGTGCCCTAGAACAAAGCATATTCTGGCTGCTCTGGGGCAGGTCCCTTGTAGGCTTGGGGATACAGGCCAGGCCTGGGTTTTAAGCTAGCATGGCTGTGGCTGACAGAAAGTGGCAAGATTACGTGCGTGTTCCTGGGAAGTTCCCAGAGGCCAATGAGAAGATGATCTGGGGATGCTGGGCCTGTGGAGGCAAAGGCTCTGGGACTGAAAGAACTTTCTTTGAAGACTGGTATTTGGAAAAGTGACTAGGTAGCAAAAGACAGTTGGCATAAGTTATAGAGAAGACCACAGCTCATTAAAAAGATGTTTCAACCATGCCGGGCGCAGTGGCCCAGCACTTAGGGAGGCTGAGGCGGGTGGATCACCTGAGGTTGAGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAATATTAGCCAGATGTGGTGGAACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATTGCTTGAACCCGGGAGGCAGAGGTCACGGTAAGCCAAGATTGTGCCATTGCACTCCAGCCTGGGCAACAAAAGCAAAACTCCGTGTCCCAGAAAAAAAAAAAAAAAAAAAAAAAAAGGTTTCAACCAGTCTCCCTGGGGAAGAAGGAGGTTCCTTCTGTCTCTGAAAAATGTCAGCTAGCCAGCTGTTGGAGAGGGTTCTGCTGGAAGAGAGGCAGGCAATCATCAGAGTGGCCCAGAGACCTTTGAGGACCTTTCCAGTGCTCAGGTTCTATGAAGAATGATCCCAACAAGGAAGACCCTGGGGTCTAGCCCCAAGAGAGGATCCCTGGCCCTCAAAAAGCACCAGAGGAGGCATGAACAGGCAGTCATGTGCCATGTACTCACTCAGGGGTCTGTGCTCCACACATCCTGGCCAGATGCTTCCCACACTCTCCCAAGGAGAGGCAGGAGTGGGATATGGGGAAGTGGGAAAGAAAGTGACTGGGATGTGTCTGGCAGGTAGCACTACCAGACTTGGACAGGACTTGCCCAGCCTGAGTCTGGGGATGGCATGTTTTGTCTCTCCAATTAACTGATGTTCTCCAAAGGGAGGGTATTCATTATTCATTGATTTATTGAGTGCTTACTAAGTGCCAAGTACTATAGTAGATGCTGGGGACACTTGAACCAGTCAGCCATGGTTCTTGCCTTTTAGAAGCTCAGAGACAAGTTAGGGAGAAGGCTATTGAACAAATAAAAACAATTTCAGGTTGTGACAAGTGTAATGACGGAAAAGAATAGGGTGCCATGACCCAGAGTAATGAAAGGGGCCTGAGACGGGGGTGGGACCAAAGAGGATGTCTTTGTGACCTGGGTTAGGAGGGATTTAAAGAGCCTGTGTCCTTTGTTTCATTAGCTCTGCTTTGGAGGTCACGGGGGAGAAGAGAGAACACTTTTAGGGATAGCAAGAGTCCAGAAAACTCTCACAGCATACACAGACAGGCAGGATGACATGGTGTATCACACCACATATAGGCAGAGAACACACATCAGCCACAGGAGGGCAAACCACATGTGTGCACTGCCACTGTCAGCAGGCAAAGCTGCTCTCGAGGCATCTCTAGCTCTAGGAGGATAACAGGGCTCTGGGGAAGTATGTTATTTCCAGAATAGTGAGGCTGCCAAGTACTCTCTCCCCCTGCCAAGCCCCATCCCACCCCTCCTCCACCCCCCCCACCCCACCCCTCTTCCACTTCCCCCACCCCACCCCTCCTCCACCTCTGCTCTCACCTCCATCAAGCAGCTCCTTGACAGTGCGGTAGTCATCAGCAAGAACAGCATAGTGCAAGGCCGTGCAGCCCTTGAAACTGGCGCGGTTGTTCAGCCTGTTGTTGAAGTCATCCTCTCGGGTGATCAGGACTGGGGAGACAGCAACACAAACCCTTCCATTAGCAACGACAGCATGAGCCACCAATCTCACCTGTTTTCTAGTGGCATTTTAATTCACTCACTCATCTACCTACTTACTAAGCATAAAATGGCACCTACTATGTTCCTGGCCATCTGTGCTGGGTAAGAAGAGGCAAAACAGAGGCCAGTTAGTTCCACAATGTTTACTGACATCTGTTATGTGTTAGGATTCATCCTGGGGACATGAAATAGATCAGATAAGGTCCCTGACCTAACTGACAAGGGAGGCAGACAATAACCAGATGTTTATAGAACTGTTTGAGATAAATGCTCTGTTAGAGGTATAATAGGAGAATATACCAGAACGCCAGAAGAGAGTTTAGCTCAACTTGGGCATGAAGAGAGGATCCCAGAAGACAGGAGTCTTAAAGGATGAAGAGAAGTTATGCAGGTAAAGAAAGCAGGTTGGGGTAGGATAAGGAAAGAGTGGGGCAGGAGACAGAGGCTGTTTTAGCAGATTAATATACCTCTCTGCTCTGAAAATGTTTACATTCTAGTAAGTAAGTGGTTTTAATTTTTTAAAGCTTAAAAAATTTATAAAAGCAATTAAATTTTTAAAATCACAGAAAAGTACAACAAAGAAAAGGAACCAATATCTCAGTGACTTGAGAAACTATGTGTCAGATTTTGATATATGTTCTTCCAAATTTCATGTGTGTGTGTATCCCCTATAAAATTGGAATTTACTGTAAATGCAATTTTGTAATCTGCATTTTTACCCTTATTACCTGTAAACATTTTTTGAAAGAAGAACAAGCATTTCATGTGGTCAAAGAACCAAAATCCCCCAGGCTCACTCTAGTGCTAATATTTGTGATTTTCTCACTCTGATTTGATATAAAATAACATAAAACCAGTCCATCATTTTTCCAGGACTCTCTGGGTTGGGTGACTCCACACACCCTGTTTACCCAGGGTGGTCCTGGTTTTCTTCTGCTGTTATAGACAGTTCCAGTTTGGACAATAAATTAGAATGTTACCCCACCTCTGGGGCCCTCCCTTGGGAAATGAGACCCCTCAGAGCACTCTCTCCCCTGCTCAGGCAATGGAGCTTCTTTCTAGCCCCCATGTGAAAGTTATCCAGGCAACTGTCTTACATTCCCTCCTGAGCTGAGTTTGTAGGGGTAGAATTTGGGTCCTGACTACCTATACTCCTCCCTGAGTCCACAGCACAGGATCTGCAGAGGACAGGTTCCTCTTACCTCTCACTGGATAAAGGGGTACACTCAGTCAAGAGGCGATCTTACCTATGTAGTCAAAAGCACCAGACAATTCCTAAACCATTCTTTTTCAAGTGGTCTTGGAATGGAGTCTATGCAATACTAAATGTCCTATATAAAGTTCCAAAAGCCAGAAGACTGCCATGCCTCTTCCAAATACTAATAGATTTTTTTTTTTTGGAAATGGAGTTTTGATCTGTCACCCAGGCTGGAGGGCAGTGGCGCGATCTGGCTCAATGCAGCCTCTACCTCGGTTCAAGCGTTTCTCTGCCTTAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACAGCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCCGACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCATACTAATAGATTTCACTTACTGACCTTCTATACTATGCCTGACATGGTCACTTCACACAATCTTACTTAATTCTCATAATTACCTTACATAGTAGGTAATTATTATTCCCATTTTATAGATGAGGAAACTGAGGCTCAGAGGTCACATAGCTAATAAGTGATTGTCCCCACTGTTTCTCACATATCATAATGTCACCCTCAATTTCCAAATGAGGAAATCAGACACCAAGAAAGAAGTAGAGCCCAGATGTC
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GATTTTAAGGCACGGCAGAGATAATGTCCTTGGTGAACACTCCAATTCTTAGCTACAAATGTCTTGCCACAGAGTTTTCCAACGGACAAAGGAAGAAGCTTTCTGCTTGGGGATGTTTTCTAAGTCTCTGCTTCTGAGAACAGCAAGTTCTCGCTCCAGAAGCATCAGTCATCCCAAGAACTGCTGCCACATCCACAAGTAGTCCTGCCCTTCAGTGGCTGTGCCCTAGAACAAAGCATATTCTGGCTGCTCTGGGGCAGGTCCCTTGTAGGCTTGGGGATACAGGCCAGGCCTGGGTTTTAAGCTAGCATGGCTGTGGCTGACAGAAAGTGGCAAGATTACGTGCGTGTTCCTGGGAAGTTCCCAGAGGCCAATGAGAAGATGATCTGGGGATGCTGGGCCTGTGGAGGCAAAGGCTCTGGGACTGAAAGAACTTTCTTTGAAGACTGGTATTTGGAAAAGTGACTAGGTAGCAAAAGACAGTTGGCATAAGTTATAGAGAAGACCACAGCTCATTAAAAAGATGTTTCAACCATGCCGGGCGCAGTGGCCCAGCACTTAGGGAGGCTGAGGCGGGTGGATCACCTGAGGTTGAGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAATATTAGCCAGATGTGGTGGAACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATTGCTTGAACCCGGGAGGCAGAGGTCACGGTAAGCCAAGATTGTGCCATTGCACTCCAGCCTGGGCAACAAAAGCAAAACTCCGTGTCCCAGAAAAAAAAAAAAAAAAAAAAAAAAAGGTTTCAACCAGTCTCCCTGGGGAAGAAGGAGGTTCCTTCTGTCTCTGAAAAATGTCAGCTAGCCAGCTGTTGGAGAGGGTTCTGCTGGAAGAGAGGCAGGCAATCATCAGAGTGGCCCAGAGACCTTTGAGGACCTTTCCAGTGCTCAGGTTCTATGAAGAATGATCCCAACAAGGAAGACCCTGGGGTCTAGCCCCAAGAGAGGATCCCTGGCCCTCAAAAAGCACCAGAGGAGGCATGAACAGGCAGTCATGTGCCATGTACTCACTCAGGGGTCTGTGCTCCACACATCCTGGCCAGATGCTTCCCACACTCTCCCAAGGAGAGGCAGGAGTGGGATATGGGGAAGTGGGAAAGAAAGTGACTGGGATGTGTCTGGCAGGTAGCACTACCAGACTTGGACAGGACTTGCCCAGCCTGAGTCTGGGGATGGCATGTTTTGTCTCTCCAATTAACTGATGTTCTCCAAAGGGAGGGTATTCATTATTCATTGATTTATTGAGTGCTTACTAAGTGCCAAGTACTATAGTAGATGCTGGGGACACTTGAACCAGTCAGCCATGGTTCTTGCCTTTTAGAAGCTCAGAGACAAGTTAGGGAGAAGGCTATTGAACAAATAAAAACAATTTCAGGTTGTGACAAGTGTAATGACGGAAAAGAATAGGGTGCCATGACCCAGAGTAATGAAAGGGGCCTGAGACGGGGGTGGGACCAAAGAGGATGTCTTTGTGACCTGGGTTAGGAGGGATTTAAAGAGCCTGTGTCCTTTGTTTCATTAGCTCTGCTTTGGAGGTCACGGGGGAGAAGAGAGAACACTTTTAGGGATAGCAAGAGTCCAGAAAACTCTCACAGCATACACAGACAGGCAGGATGACATGGTGTATCACACCACATATAGGCAGAGAACACACATCAGCCACAGGAGGGCAAACCACATGTGTGCACTGCCACTGTCAGCAGGCAAAGCTGCTCTCGAGGCATCTCTAGCTCTAGGAGGATAACAGGGCTCTGGGGAAGTATGTTATTTCCAGAATAGTGAGGCTGCCAAGTACTCTCTCCCCCTGCCAAGCCCCATCCCACCCCTCCTCCACCCCCCCCACCCCACCCCTCTTCCACTTCCCCCACCCCACCCCTCCTCCACCTCTGCTCTCACCTCCATCAAGCAGCTCCTTGACAGTGCGGTAGTCATCAGCAAGAACAGCATAGTGCAAGGCCATGCAGCCCTTGAAACTGGCGCGGTTGTTCAGCCTGTTGTTGAAGTCATCCTCTCGGGTGATCAGGACTGGGGAGACAGCAACACAAACCCTTCCATTAGCAACGACAGCATGAGCCACCAATCTCACCTGTTTTCTAGTGGCATTTTAATTCACTCACTCATCTACCTACTTACTAAGCATAAAATGGCACCTACTATGTTCCTGGCCATCTGTGCTGGGTAAGAAGAGGCAAAACAGAGGCCAGTTAGTTCCACAATGTTTACTGACATCTGTTATGTGTTAGGATTCATCCTGGGGACATGAAATAGATCAGATAAGGTCCCTGACCTAACTGACAAGGGAGGCAGACAATAACCAGATGTTTATAGAACTGTTTGAGATAAATGCTCTGTTAGAGGTATAATAGGAGAATATACCAGAACGCCAGAAGAGAGTTTAGCTCAACTTGGGCATGAAGAGAGGATCCCAGAAGACAGGAGTCTTAAAGGATGAAGAGAAGTTATGCAGGTAAAGAAAGCAGGTTGGGGTAGGATAAGGAAAGAGTGGGGCAGGAGACAGAGGCTGTTTTAGCAGATTAATATACCTCTCTGCTCTGAAAATGTTTACATTCTAGTAAGTAAGTGGTTTTAATTTTTTAAAGCTTAAAAAATTTATAAAAGCAATTAAATTTTTAAAATCACAGAAAAGTACAACAAAGAAAAGGAACCAATATCTCAGTGACTTGAGAAACTATGTGTCAGATTTTGATATATGTTCTTCCAAATTTCATGTGTGTGTGTATCCCCTATAAAATTGGAATTTACTGTAAATGCAATTTTGTAATCTGCATTTTTACCCTTATTACCTGTAAACATTTTTTGAAAGAAGAACAAGCATTTCATGTGGTCAAAGAACCAAAATCCCCCAGGCTCACTCTAGTGCTAATATTTGTGATTTTCTCACTCTGATTTGATATAAAATAACATAAAACCAGTCCATCATTTTTCCAGGACTCTCTGGGTTGGGTGACTCCACACACCCTGTTTACCCAGGGTGGTCCTGGTTTTCTTCTGCTGTTATAGACAGTTCCAGTTTGGACAATAAATTAGAATGTTACCCCACCTCTGGGGCCCTCCCTTGGGAAATGAGACCCCTCAGAGCACTCTCTCCCCTGCTCAGGCAATGGAGCTTCTTTCTAGCCCCCATGTGAAAGTTATCCAGGCAACTGTCTTACATTCCCTCCTGAGCTGAGTTTGTAGGGGTAGAATTTGGGTCCTGACTACCTATACTCCTCCCTGAGTCCACAGCACAGGATCTGCAGAGGACAGGTTCCTCTTACCTCTCACTGGATAAAGGGGTACACTCAGTCAAGAGGCGATCTTACCTATGTAGTCAAAAGCACCAGACAATTCCTAAACCATTCTTTTTCAAGTGGTCTTGGAATGGAGTCTATGCAATACTAAATGTCCTATATAAAGTTCCAAAAGCCAGAAGACTGCCATGCCTCTTCCAAATACTAATAGATTTTTTTTTTTTGGAAATGGAGTTTTGATCTGTCACCCAGGCTGGAGGGCAGTGGCGCGATCTGGCTCAATGCAGCCTCTACCTCGGTTCAAGCGTTTCTCTGCCTTAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACAGCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCCGACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCATACTAATAGATTTCACTTACTGACCTTCTATACTATGCCTGACATGGTCACTTCACACAATCTTACTTAATTCTCATAATTACCTTACATAGTAGGTAATTATTATTCCCATTTTATAGATGAGGAAACTGAGGCTCAGAGGTCACATAGCTAATAAGTGATTGTCCCCACTGTTTCTCACATATCATAATGTCACCCTCAATTTCCAAATGAGGAAATCAGACACCAAGAAAGAAGTAGAGCCCAGATGTC
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Task1_train_16284
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The gene PDE2A (phosphodiesterase 2A) is located on Chromosome 11, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Intellectual developmental disorder with paroxysmal dyskinesia or seizures
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CTTCACCCCATCTGGTGTCTTCACCCTCAAATTCCCATGGCAGGTGGGGGATCCGTCACCCAGAATGTACCACAGTTGGGCCACCACGCTGTGGACTGTAACTGGGCAGGAAATCACCACCCTCCCCTCACAGCCCTGCAGCCCACCCCGCGCGCCTCCCTGCAGGTGACCACCCTTTATCTGTAACAGCATAACCTTGGCAAAGATCGACAACACCCCTTCATGACACCCCCTAACCATGGCAGCATTTCATACACAGTAACTGTAGCAGTCCTCCTTTTGTGGAGACCTTTCTACTCTCTAACCTTAACTCTTCCTACTACAGTTTTGATCCAACTCACAAGGTCTGGGCCTCTCTGGTTTGGACACAGGTGAGAGGAAATGTCCAAATGAACAGCGACTACCATATACATGGAACTAAGCCAGCTTTTGTGACCCAGGGTAGGGAATGGGATAGATTATCAGCAATTAAGACTGCCCAGGGCTGCATGGGCATTGTACCTAGGGAAGCCATGGGGACGGGTCCTGGGTGAGCTTCCTAGCCCTCAGTAATTCCCAAGATGGGAATTATTCCCTGAACATGGGGAATACCTGGCTGAACCAATTACTCCCTGGGCTGGTTCCTCTGGCTACTTCCAGCCTTGGGACTGAGCTCAGAAGCAGCTTGGAGGAGAGGTCTCTAAGCAGGGGTGGGAGCTGCCCCTAAGGAGGGCAGGAGGCCTGCTGTGGCTCTGGGCCTATCCTCTCATCCTCAGTAGAGATTGATCAGGAAGCCCTGCCTGGCCCTGGGTCCCCGGGGAATCTGGGAGGAGGACCAGAGGTCTCTGCAAGCCTCACCTTCATGTGGTACATCATCATCTCATTGGCCAGGTGGCTGCGATACTGAGCCTCATTCACTTTTTTGTATAGGAGAGACTAGGGGAAAGAGGGAAAGATGGGGCTCAAGGAAGGTGGCTGTGAAAATTTAGCAATGCCCAGGACTGGGATGAAGGGGTCAAAAAGACACCCCACTTCCTGTCCCATTCTGGCCCCAGTCAAAACCTTCAAGCTCCAGTCCACAGTAAAGACCCCACCCCCACTTTCATCCAGACCCCGCGCCGGTTCCTCCTCATCAAGTTCTCCCAGCATTTGGTCTGGCCCTTTGCACTCCCCCACACCTGATCCAGGCTTCAGTGATGGAGCCCAAGGCCCATGGCAGGGAAGGAGAAGCAAGGAGGGGATCATGTCAGGGACCTTGGGGCTGGATTCCCAGGCCAGAGCGCCAGTAGGCCTGGACACCGAGACCCAGCACTTCCAAAAAAGCACTCGGCTTGGGTTGAGACTGCTTCCAGGGAAGAGAGGAGGTTTTGACAACGGGAGTTTCTCATGGTCCCAGGAGGCTGAGTGGACAGGGCAGGAAATCGTATGCCCAATTTTTAGATGGGAAACTGAGCCCAGAGGTGGCCAGCGTGTCCTGAAGGCTGCACCCCAGCGGCGGGACTCTGAGTGCCAGACCAAGGGATCAATCCACAAGGAGAGTCAGTCGGAGGAGGAGAACCGAGGGTCCTTCGTGGGCCCCGCCCCCTATCACCCCACACCCCACTCCCAACCCCGCCCTCACATGGGCGATGCTGATGCCGCAGTAGATGGAGAAGGCCGTCGCCAGGTCCTCGTCGAACTTGCTGAACCATGGCCCATTGATCTTGTTCACCAGCTCGGCCACACCGATGACCTCTGGGGAAGGGAGAGGGGCAAGGAACCACCGGTGGAGGGAGGGATCGGTTGGAGGGAGGGATCCGGCCGGGACCTGCCCTCGCAGTTTCCGCAGGTTACGTACGTCCCAGGCATGGAACCCGACTCCCTTATGCTCCGGGACGCTGGAGGCGGTGGGGAAGTGTTGCCACCCCCGCTCGCTCGGACCCGCCCCGCCCGGCGCAGGCCCCGCCCCTCCGCCCGGGCCGCCACGCGCACCCTGGTTCTCGTTCTTGATGGGGAAGCAGAGGATGTTGCGCGTGCGGAAGCCGGTGCTGTCGTCCACGCCGCGGTAGAAAAGCGGATGGGCATATGCGTCAGGGATGTTCAGGATCTGGCCCGTGGTCGCCACGTGTCCCGCGATGCCCTGATCGGCCGGGATGCGGATCTCATAGCTCTGCCGGAGCAGAGATGGAGTCGAGAGGAAGAAGTTAGTGACCCGGCCACAGAGGGGACTGTTAAACCTCGGGCCGCTCCCCAGCGCCGCCGGCGGACTCCCGGACACCCCTAGGGCCACATACTCCCTCCACACCCTCTCACCTCATCATCCACCACGCCCCCGTCGAACACCTTGGCCACCAGCTCATTCTGATCCAGCAGGAACACAGAGCAGCTGTGGAGGGAGGGGTTTGGTCCTCTGGGGCCTGACAACCCCCTCTGATCGCCCTCACGTCCCATAAGGAGGCAAAGGCCGGATTTCCGAGGCCTGGGAGGAGTGCTCCAAGGTAAGACACTCTGCTCAGGGCTGGCTGGCTCCAGAAACGTGTCCATTCAAGTGTTTTGTTTTTTTTTTTTTTTGGAAGCACCTACTATGTGCCAGGCACTGTGATAGGAGCTGAGGATCCAAAGCCAGCCCTGTCCCTGCTGTATTGGAGCCTACAGTCTAGCGAGGGAGACAGGCATGAAATAAAGGATCCCTCAAAAGGTGATGAAGTCCCGCAGAAGGCAGAGAAAGGGAAGTGGGTGGGGCAGGAAAGGAGATGATGGGGACTGAAGGCCACAGCCTCTCTCGCCCTGTCCCCTGGGTAGAGTCACTCACATCTCTGCGTTGCTGAGGTTTCTGGCCTCCGTGATGATCTCCTGGAGCAGGACAGAGACGTCATCTGGGGAAGGGAGAAGACCAGGCAGGGTGAGACCAGGCTGCCAAGACCTCCCGCCTCTCCTCTGCAAATGCCAGCCCCCATGCCCACACACAGCCAGGCAGAGAGAACAGTGCACTCACCCAGGTGGGTGAAGAGGTTCTTTGCCACTTGGAGAAGAGCCTGGAATGAAGGAAATGGAGATCATAGGGGGGTCGGGGTGTAGGGGTCACCCTATCCAACCTCCTGCCTCCAACAGCACCCGGGTCTTCTCCTTCCTTCCCTAGGGCTCACTGGACAAGCCAGAAACTGTCAGTGTCTAATTATATCATTTGGCTACTAAGTGAAGGAGTGAGGGAATAGCCCCGGTGCAGGTGAGGAGTCTCCTGAGTGTCTCAGCCGCCTTCACGCCAGCTCTAGCTGCCTAGGTGTTGCTGTAGTGCCCAAATTGAACACTAGAGGGCGATCACATACAGTGCCTGCGGGCAGTGGCGCGGGTCCTGAACAACTGCAAGCCTTCAAGTTATGAGGTTATGGAGCCACCTGGGGAAGGGCTGCCACCAGTCCAGAAAGACATGGGCATTTCCCTTCTGAATGGCTCTCGGGGCTGAAAACTGAGCGAGTCGGTGCCCGAGAGAGGCTGAAGGCAGGTCACTCACCTGGCACTCACACTTGAGTTTCTGTTCCTTCTGGAAGGCCAGGGTGCTGGTGAGCACGGTGCTGGTGTAGTGGAAGCAGTGCTGGATCACATGCTCGTCCTCGTCGGTGAACCTGGAGGAGGGGGTGGGCTCACTCAGGAGGGAAGGGAAGACTGGCTTCTCTCCCCACTCTCCTTACTTCTGTTCCATCAGAAGCCCACAGGGGTACCCACCTGCCAACTATATAACCACTGCACAGGCCCTTGGAACAGCTTCCCACCCCCATGACCCTGCAGACTGGGGGCTGCCCAAGGGGAGGGCTCCAGTCCTCCTTAGATGCTTGAAACCAGAGCCATACCTCCCGTCTCTGATTTGGGATTTACCCAGCCCAAAGCTGGGTCTCCTCCCTCAGACTAGAGATTGCCTGGGCTCAAGCTGGTGTTCTGCTCTTCCCCAGGCACACCTCCAGCCTTGGGGAGGGGCGGTGGCACTGCCCTATCTTGTGCAGCTCCTGTCACTACCCCACTCTCCCTGGACTCCGCTGGCCCTGATTCGGTGCCTCCAGAAATCTTAGGGTGGTGGTGTGGAGAGGACTGCTTGCCCTGCTCATGGAGCTAGCTCTGGTGAGACAAGATAAGCCCCAAATCC
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CTTCACCCCATCTGGTGTCTTCACCCTCAAATTCCCATGGCAGGTGGGGGATCCGTCACCCAGAATGTACCACAGTTGGGCCACCACGCTGTGGACTGTAACTGGGCAGGAAATCACCACCCTCCCCTCACAGCCCTGCAGCCCACCCCGCGCGCCTCCCTGCAGGTGACCACCCTTTATCTGTAACAGCATAACCTTGGCAAAGATCGACAACACCCCTTCATGACACCCCCTAACCATGGCAGCATTTCATACACAGTAACTGTAGCAGTCCTCCTTTTGTGGAGACCTTTCTACTCTCTAACCTTAACTCTTCCTACTACAGTTTTGATCCAACTCACAAGGTCTGGGCCTCTCTGGTTTGGACACAGGTGAGAGGAAATGTCCAAATGAACAGCGACTACCATATACATGGAACTAAGCCAGCTTTTGTGACCCAGGGTAGGGAATGGGATAGATTATCAGCAATTAAGACTGCCCAGGGCTGCATGGGCATTGTACCTAGGGAAGCCATGGGGACGGGTCCTGGGTGAGCTTCCTAGCCCTCAGTAATTCCCAAGATGGGAATTATTCCCTGAACATGGGGAATACCTGGCTGAACCAATTACTCCCTGGGCTGGTTCCTCTGGCTACTTCCAGCCTTGGGACTGAGCTCAGAAGCAGCTTGGAGGAGAGGTCTCTAAGCAGGGGTGGGAGCTGCCCCTAAGGAGGGCAGGAGGCCTGCTGTGGCTCTGGGCCTATCCTCTCATCCTCAGTAGAGATTGATCAGGAAGCCCTGCCTGGCCCTGGGTCCCCGGGGAATCTGGGAGGAGGACCAGAGGTCTCTGCAAGCCTCACCTTCATGTGGTACATCATCATCTCATTGGCCAGGTGGCTGCGATACTGAGCCTCATTCACTTTTTTGTATAGGAGAGACTAGGGGAAAGAGGGAAAGATGGGGCTCAAGGAAGGTGGCTGTGAAAATTTAGCAATGCCCAGGACTGGGATGAAGGGGTCAAAAAGACACCCCACTTCCTGTCCCATTCTGGCCCCAGTCAAAACCTTCAAGCTCCAGTCCACAGTAAAGACCCCACCCCCACTTTCATCCAGACCCCGCGCCGGTTCCTCCTCATCAAGTTCTCCCAGCATTTGGTCTGGCCCTTTGCACTCCCCCACACCTGATCCAGGCTTCAGTGATGGAGCCCAAGGCCCATGGCAGGGAAGGAGAAGCAAGGAGGGGATCATGTCAGGGACCTTGGGGCTGGATTCCCAGGCCAGAGCGCCAGTAGGCCTGGACACCGAGACCCAGCACTTCCAAAAAAGCACTCGGCTTGGGTTGAGACTGCTTCCAGGGAAGAGAGGAGGTTTTGACAACGGGAGTTTCTCATGGTCCCAGGAGGCTGAGTGGACAGGGCAGGAAATCGTATGCCCAATTTTTAGATGGGAAACTGAGCCCAGAGGTGGCCAGCGTGTCCTGAAGGCTGCACCCCAGCGGCGGGACTCTGAGTGCCAGACCAAGGGATCAATCCACAAGGAGAGTCAGTCGGAGGAGGAGAACCGAGGGTCCTTCGTGGGCCCCGCCCCCTATCACCCCACACCCCACTCCCAACCCCGCCCTCACATGGGCGATGCTGATGCCGCAGTAGATGGAGAAGGCCGTCGCCAGGTCCTCGTCGAACTTGCTGAACCATGGCCCATTGATCTTGTTCACCAGCTCGGCCACACCGATGACCTCTGGGGAAGGGAGAGGGGCAAGGAACCACCGGTGGAGGGAGGGATCGGTTGGAGGGAGGGATCCGGCCGGGACCTGCCCTCGCAGTTTCCGCAGGTTACGTACGTCCCAGGCATGGAACCCGACTCCCTTATGCTCCGGGACGCTGGAGGCGGTGGGGAAGTGTTGCCACCCCCGCTCGCTCGGACCCGCCCCGCCCGGCGCAGGCCCCGCCCCTCCGCCCGGGCCGCCACGCGCACCCTGGTTCTCGTTCTTGATGGGGAAGCAGAGGATGTTGCGCGTGCGGAAGCCGGTGCTGTCGTCCACGCCGCGGTAGAAAAGCGGATGGGCATATGCGCCAGGGATGTTCAGGATCTGGCCCGTGGTCGCCACGTGTCCCGCGATGCCCTGATCGGCCGGGATGCGGATCTCATAGCTCTGCCGGAGCAGAGATGGAGTCGAGAGGAAGAAGTTAGTGACCCGGCCACAGAGGGGACTGTTAAACCTCGGGCCGCTCCCCAGCGCCGCCGGCGGACTCCCGGACACCCCTAGGGCCACATACTCCCTCCACACCCTCTCACCTCATCATCCACCACGCCCCCGTCGAACACCTTGGCCACCAGCTCATTCTGATCCAGCAGGAACACAGAGCAGCTGTGGAGGGAGGGGTTTGGTCCTCTGGGGCCTGACAACCCCCTCTGATCGCCCTCACGTCCCATAAGGAGGCAAAGGCCGGATTTCCGAGGCCTGGGAGGAGTGCTCCAAGGTAAGACACTCTGCTCAGGGCTGGCTGGCTCCAGAAACGTGTCCATTCAAGTGTTTTGTTTTTTTTTTTTTTTGGAAGCACCTACTATGTGCCAGGCACTGTGATAGGAGCTGAGGATCCAAAGCCAGCCCTGTCCCTGCTGTATTGGAGCCTACAGTCTAGCGAGGGAGACAGGCATGAAATAAAGGATCCCTCAAAAGGTGATGAAGTCCCGCAGAAGGCAGAGAAAGGGAAGTGGGTGGGGCAGGAAAGGAGATGATGGGGACTGAAGGCCACAGCCTCTCTCGCCCTGTCCCCTGGGTAGAGTCACTCACATCTCTGCGTTGCTGAGGTTTCTGGCCTCCGTGATGATCTCCTGGAGCAGGACAGAGACGTCATCTGGGGAAGGGAGAAGACCAGGCAGGGTGAGACCAGGCTGCCAAGACCTCCCGCCTCTCCTCTGCAAATGCCAGCCCCCATGCCCACACACAGCCAGGCAGAGAGAACAGTGCACTCACCCAGGTGGGTGAAGAGGTTCTTTGCCACTTGGAGAAGAGCCTGGAATGAAGGAAATGGAGATCATAGGGGGGTCGGGGTGTAGGGGTCACCCTATCCAACCTCCTGCCTCCAACAGCACCCGGGTCTTCTCCTTCCTTCCCTAGGGCTCACTGGACAAGCCAGAAACTGTCAGTGTCTAATTATATCATTTGGCTACTAAGTGAAGGAGTGAGGGAATAGCCCCGGTGCAGGTGAGGAGTCTCCTGAGTGTCTCAGCCGCCTTCACGCCAGCTCTAGCTGCCTAGGTGTTGCTGTAGTGCCCAAATTGAACACTAGAGGGCGATCACATACAGTGCCTGCGGGCAGTGGCGCGGGTCCTGAACAACTGCAAGCCTTCAAGTTATGAGGTTATGGAGCCACCTGGGGAAGGGCTGCCACCAGTCCAGAAAGACATGGGCATTTCCCTTCTGAATGGCTCTCGGGGCTGAAAACTGAGCGAGTCGGTGCCCGAGAGAGGCTGAAGGCAGGTCACTCACCTGGCACTCACACTTGAGTTTCTGTTCCTTCTGGAAGGCCAGGGTGCTGGTGAGCACGGTGCTGGTGTAGTGGAAGCAGTGCTGGATCACATGCTCGTCCTCGTCGGTGAACCTGGAGGAGGGGGTGGGCTCACTCAGGAGGGAAGGGAAGACTGGCTTCTCTCCCCACTCTCCTTACTTCTGTTCCATCAGAAGCCCACAGGGGTACCCACCTGCCAACTATATAACCACTGCACAGGCCCTTGGAACAGCTTCCCACCCCCATGACCCTGCAGACTGGGGGCTGCCCAAGGGGAGGGCTCCAGTCCTCCTTAGATGCTTGAAACCAGAGCCATACCTCCCGTCTCTGATTTGGGATTTACCCAGCCCAAAGCTGGGTCTCCTCCCTCAGACTAGAGATTGCCTGGGCTCAAGCTGGTGTTCTGCTCTTCCCCAGGCACACCTCCAGCCTTGGGGAGGGGCGGTGGCACTGCCCTATCTTGTGCAGCTCCTGTCACTACCCCACTCTCCCTGGACTCCGCTGGCCCTGATTCGGTGCCTCCAGAAATCTTAGGGTGGTGGTGTGGAGAGGACTGCTTGCCCTGCTCATGGAGCTAGCTCTGGTGAGACAAGATAAGCCCCAAATCC
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Task1_train_16285
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A variant was discovered on Chromosome 11, affecting PDE2A (phosphodiesterase 2A). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Intellectual developmental disorder with paroxysmal dyskinesia or seizures
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TGAAAACTCCTGGCAGCCAGAGCCCAGCTGGCTAGCATCCTGCTCAACAGCATGCACCCCTACTTCAGCTTCCCCAGGACCACACTCTCCCCTCAGCACACCACCCCTTCCCCCGGCCTCCTTCCTGCCTTGCTCACATTCCTCCTCTGCCTAGAATCCCCTTTCCCTTCTTCCCTGCCTGTGGACCTCCTACCTGTGCCCCAAGGCCCCACACAAATGCTTTCTCTGTGATGAGGTACCACTTGCTGCTCCAGGCTTTGCCACCAGAACACCTGCTGGCAACAGTATTTCATCTGGCCTGTGGTGGGGAGGGTGTCCCTGCCTTCCCCCAGACTGAGAGCTCCCTGAAGGCAGAGTCGGCTCCAGCACCCAGCCTGCCGCAGGACCAGACCAGAGTTCTACTGGGTGAGTTAAGTGTAAGTGATCTGATCCCACCAGCGTCCCTGAGACACACACACACACACACACACACACACACACATTGGCCTCTGGCCCAGCCTGAGCCAAGGTGAGCAGCGGCCATGGCAAGCATTCCGCCCACAAGGGAAGCAACCTTCCAAATGTCTTCCCCTTACTTCCCTCCTGACCCAGTCCTCATAGCCTCAATCTAAGGAAGTCCTTCTCAGGCACCTGGCACCCCAGGCCCTTTGCCCTCAGCAGAGAAGGAGGTGCGTGACCCAGCCACCACCTCCCAATCCCCACCTCTGCACACAGCCCCTCACCTCAGTGCCCCTCAAAGCTGACCAGCCCTGGGGCAGACCAAGAGCAAAGAATAGGGGGAGGCGACCCCCTGAGAACTCCGTGCAACAGCAGCTCCGTTCCAGAAACCGGGGGTGGGGGGAGCAGCTTGCGGAGAAACCAAGCAGCGGCCTTGGCTCCCTCAGTCAGGAAGATGGGTGCAGAGGAGACCCAGCCAAGTACCCCTCCTCCCCTCCCCCCTCTCCTCCCCTCTCAGCCATCCCTGACTCCCACTGCCCTCTCCTGCCAGCAGCTCAGAAAGGTCAGGCGCCTGGGAAGCGTTTAATTCCATTTTAATGAGCTGGAGAGGAGTCCCCGGGGAACCAACACCTGCTCATTTATCTGTCCATGCCCCCAAGCCTGCCCTTTACTGGAATGGCAGCCCCCTCGACAGAAGCAGACCCCCAATAATAGCAATTTGGGGAACTCATCCTTTGGTTACTAGGATAGAACGAGTTTGAACCCCCACCTCCATACAGGAGAAGAAACGGAAAGAGCGGCAGAATCCCGTCCCCACAGGCTCTGCACTTCCACAATCCCCTCCACGGAGCAGAAACCCTGGGAACTCCTCGAGGGGCTGCAGAGGGAGGCTTGTCTGGGTTCTGGGGCTCTGGCAGAGCATCCACCACTTCCCACTAACACTCCTTCCTCAGCCACTCCAGAAAGCCCCCCTAGCTGCCTGTCTTCCGCCCAGCCTCAGCCCTGGGTCTGGCTGGCCTGACCATGGCCTTTCTCTCCTCAAGGCCCCCAGCTCCAGCCACTCCAAATCTCTGGCTAGTTTTCCACACTATCTCTATTGGTCAGGCCCTTATGTCCATCTGTCCCTCCGCAGCATCTCTCTTCACACCTCACTTGGTTCATGCCCTCCTGGACATTATCCCCACCCCATCTGGAGGATCCCAAAGAGAAACCAAGGTTAGTGCTGCGTACGCCAAAGGCTGGGCCTTCTAACCTTATGGGGGCTGAGAGTCCAGCAGGGGCTTGCACACCCCTCAGAAAGCTGCTGACTGGGCCAATGGCTTCATCCTACCTATTCGAGGTGGGGCAGAAGGCTGGGGTGTGGGAGATGCCCCAACTCCTCCCACCCCCACACCCCCATTTCCCCTCACTCCATCCTCGCTTATGGCTCCCATCTCTCTCTCTCTCTCTCTCTCTCTCTCACACACACACACACACACACACACACACACACCCTGGACAGGCTCCATCCACCACTCCCTCCCATGGTCTCCTCTCCCTACATCCCACCGCCTAGGCAGGCTCTTACCAAGATGACAGCTGCCACGGCCCCAGCCTCCTTGTCCGCTAGCGGCATGACCAGCACTGAGGGGGAGAGGGCAATGAGGTGCTCCTGCAGGGCTGGCGAGGCTCAGAGATACCGAGCCGGGACCCAGGTGGGGGAGACAAAGATGCAGACAAAGAGAGGCCAGGACAGAGACACACAGAGACCCCAAAACCCACAGAAACACAGAGGCGGGTCCTGAGGCAGCAACAAAAACAACCACAGCAACAGCCTCTGCATGGAAGGAAACCCCTTCACTCACAACCTTCTTGTGATCCTCCCAGGGTTGCAGGGAGGAAGGCAGGTGAGGCTGAGCACCTCTATTTTACAGATTGGGAAACTGAGGTCTAGAAAGGGGAAGTGACTTGCCCAAGATCACACAGCAAGTCAGGTCTCCTGACTCCCAGTCTTGTGCACTTTCCACATCGAGACAGAGGACAGAGACCTAGAGAGACTGAGACACGAGGCAGAGAGGGACATGGCGGACAGGAGGCATGGAGGAGAAGAAAAAGAGAAATAGGGCCAATGACAGTGACAGAGAGAATGTGAGAACAACTACAGCCCCATCCAGCATCAGGCACAGGCACATCACAACCACAGCCACGGGCCACTGAGCCCTCGCTTGTGCCAGGCCCCTAACATGCATGATCTCACTTGCACCTCCTTGAAACACCCCCTCAAGGTAAATACTATTGTCCCATTTTATAGTCAGGAAGTTGAGGCTCAGAGAATTTAGTAGTACAATAGAGAGAGAATTAGATGGAGGGACTGCTAGAGACACAGAGCAAGAGAAAGAAGGAGACAGAGATGAAGAGGAATAGAAGACACACATGACCTGGAGTGCAGGGGCCACAGTCCCTCCCTGCCCCTGCCCCTGCCCCTGCCCAGCCCCTAGCCCTTACCTTGGGTATCAGGAGCCAGTGGAGCCACCAGCCTGGCCAAGGGCTTCCCTGGCAGGTCTGAGAAGCCCAGCCCATTGCAGCCCAGCCGCTTCTGGGAGATGATAGCCTCCCTGAAAAGAGGACATGATGCCACCTTGAGAGCCCCCGACTCAGGGAGGAACGAGGCCTGGCCTGGGAACACAGGACAGTTTGGACCCTGCACATGTGCAAGGATCTGGGCAAGCTGACCTGCCTCAGGTTGGACACGATGACAGCACAAGTAAAAAAGTAGGGGACCCTGGACCCTATGTGGAGAAACAGGCAGCCACAGTTTGGCCTCTGGTGCCCCTTGCTGGTAAAGGCTCGGGTGGGGCCCAGTGCAGATCTTCCAGGCAGTGGGAGAGCAGAGGAAGTGAATGCAGGGGCTCAAAGCTAGGCTGCCTGCTACAATCTGACCTTAGGCACATGACCTGACCTCTCTGATCTTCCCAAGGAGAACTAGGGTGGAGAGAGAAGAACCCTCCCTGTCACCATCCTCAGAAAACAATTGTTGATCAGCTTTTAGTGCTAAGCACAGGAGGTAATCATCATAACTAAAGTTTATTGGCCATTTCCTATGTCCCGTGCACAGCCCAAGCAACTCACATAGATGAACTCAGAATTCCCAGCAATTCTATGAATTAGATATCTTCATTTTCAGATGGAGAAGCTATGGCACCAAGAGGCTAATTCACTTGCCCAGGGTTACACAGTGAATAAGCGGTAGAGCCAGGATTTGAACCCAGGTAGGTGGCACCAGGGCTAGGTCTAACCACTATGCTGGAACCTTCCCAAATACCTGTGGAGGTGTGAGCTTTGAACAGGGGGCAGGTGTGAGTGGCAGGGTATGACAGTGGCAGAGGGGTGGTGGGAACCAAGGCAGGGGAGGTTGGTATGGGAAGAATGAGTTTCTCTCTGTCCCACCACACAACCCACCTCCTCTACCCCCCAGCCTCTGGCTCATCCCGCTTAATTAAGCACCTGAGTTTGCACCAAATGTCACTCCTTGATGATTAATTGTCCTGGGTTCTTCATCCCTCATGCTGCCTCCACTTAATTGTGCTTGTAGGAACTGCCTGGCCTGGACAGAAGAGAAACTTGGGGAACTGTGTGCATACAGGGTCACTAAGGGAAGCCCAGCAAAGGTCACATGAGG
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TGAAAACTCCTGGCAGCCAGAGCCCAGCTGGCTAGCATCCTGCTCAACAGCATGCACCCCTACTTCAGCTTCCCCAGGACCACACTCTCCCCTCAGCACACCACCCCTTCCCCCGGCCTCCTTCCTGCCTTGCTCACATTCCTCCTCTGCCTAGAATCCCCTTTCCCTTCTTCCCTGCCTGTGGACCTCCTACCTGTGCCCCAAGGCCCCACACAAATGCTTTCTCTGTGATGAGGTACCACTTGCTGCTCCAGGCTTTGCCACCAGAACACCTGCTGGCAACAGTATTTCATCTGGCCTGTGGTGGGGAGGGTGTCCCTGCCTTCCCCCAGACTGAGAGCTCCCTGAAGGCAGAGTCGGCTCCAGCACCCAGCCTGCCGCAGGACCAGACCAGAGTTCTACTGGGTGAGTTAAGTGTAAGTGATCTGATCCCACCAGCGTCCCTGAGACACACACACACACACACACACACACACACACATTGGCCTCTGGCCCAGCCTGAGCCAAGGTGAGCAGCGGCCATGGCAAGCATTCCGCCCACAAGGGAAGCAACCTTCCAAATGTCTTCCCCTTACTTCCCTCCTGACCCAGTCCTCATAGCCTCAATCTAAGGAAGTCCTTCTCAGGCACCTGGCACCCCAGGCCCTTTGCCCTCAGCAGAGAAGGAGGTGCGTGACCCAGCCACCACCTCCCAATCCCCACCTCTGCACACAGCCCCTCACCTCAGTGCCCCTCAAAGCTGACCAGCCCTGGGGCAGACCAAGAGCAAAGAATAGGGGGAGGCGACCCCCTGAGAACTCCGTGCAACAGCAGCTCCGTTCCAGAAACCGGGGGTGGGGGGAGCAGCTTGCGGAGAAACCAAGCAGCGGCCTTGGCTCCCTCAGTCAGGAAGATGGGTGCAGAGGAGACCCAGCCAAGTACCCCTCCTCCCCTCCCCCCTCTCCTCCCCTCTCAGCCATCCCTGACTCCCACTGCCCTCTCCTGCCAGCAGCTCAGAAAGGTCAGGCGCCTGGGAAGCGTTTAATTCCATTTTAATGAGCTGGAGAGGAGTCCCCGGGGAACCAACACCTGCTCATTTATCTGTCCATGCCCCCAAGCCTGCCCTTTACTGGAATGGCAGCCCCCTCGACAGAAGCAGACCCCCAATAATAGCAATTTGGGGAACTCATCCTTTGGTTACTAGGATAGAACGAGTTTGAACCCCCACCTCCATACAGGAGAAGAAACGGAAAGAGCGGCAGAATCCCGTCCCCACAGGCTCTGCACTTCCACAATCCCCTCCACGGAGCAGAAACCCTGGGAACTCCTCGAGGGGCTGCAGAGGGAGGCTTGTCTGGGTTCTGGGGCTCTGGCAGAGCATCCACCACTTCCCACTAACACTCCTTCCTCAGCCACTCCAGAAAGCCCCCCTAGCTGCCTGTCTTCCGCCCAGCCTCAGCCCTGGGTCTGGCTGGCCTGACCATGGCCTTTCTCTCCTCAAGGCCCCCAGCTCCAGCCACTCCAAATCTCTGGCTAGTTTTCCACACTATCTCTATTGGTCAGGCCCTTATGTCCATCTGTCCCTCCGCAGCATCTCTCTTCACACCTCACTTGGTTCATGCCCTCCTGGACATTATCCCCACCCCATCTGGAGGATCCCAAAGAGAAACCAAGGTTAGTGCTGCGTACGCCAAAGGCTGGGCCTTCTAACCTTATGGGGGCTGAGAGTCCAGCAGGGGCTTGCACACCCCTCAGAAAGCTGCTGACTGGGCCAATGGCTTCATCCTACCTATTCGAGGTGGGGCAGAAGGCTGGGGTGTGGGAGATGCCCCAACTCCTCCCACCCCCACACCCCCATTTCCCCTCACTCCATCCTCGCTTATGGCTCCCATCTCTCTCTCTCTCTCTCTCTCTCTCTCACACACACACACACACACACACACACACACACCCTGGACAGGCTCCATCCACCACTCCCTCCCATGGTCTCCTCTCCCTACATCCCACCGCCTAGGCAGGCTCTTACCAAGATGACAGCTGCCACGGCCCCAGCCTCCTTGTCCGCTAGCAGCATGACCAGCACTGAGGGGGAGAGGGCAATGAGGTGCTCCTGCAGGGCTGGCGAGGCTCAGAGATACCGAGCCGGGACCCAGGTGGGGGAGACAAAGATGCAGACAAAGAGAGGCCAGGACAGAGACACACAGAGACCCCAAAACCCACAGAAACACAGAGGCGGGTCCTGAGGCAGCAACAAAAACAACCACAGCAACAGCCTCTGCATGGAAGGAAACCCCTTCACTCACAACCTTCTTGTGATCCTCCCAGGGTTGCAGGGAGGAAGGCAGGTGAGGCTGAGCACCTCTATTTTACAGATTGGGAAACTGAGGTCTAGAAAGGGGAAGTGACTTGCCCAAGATCACACAGCAAGTCAGGTCTCCTGACTCCCAGTCTTGTGCACTTTCCACATCGAGACAGAGGACAGAGACCTAGAGAGACTGAGACACGAGGCAGAGAGGGACATGGCGGACAGGAGGCATGGAGGAGAAGAAAAAGAGAAATAGGGCCAATGACAGTGACAGAGAGAATGTGAGAACAACTACAGCCCCATCCAGCATCAGGCACAGGCACATCACAACCACAGCCACGGGCCACTGAGCCCTCGCTTGTGCCAGGCCCCTAACATGCATGATCTCACTTGCACCTCCTTGAAACACCCCCTCAAGGTAAATACTATTGTCCCATTTTATAGTCAGGAAGTTGAGGCTCAGAGAATTTAGTAGTACAATAGAGAGAGAATTAGATGGAGGGACTGCTAGAGACACAGAGCAAGAGAAAGAAGGAGACAGAGATGAAGAGGAATAGAAGACACACATGACCTGGAGTGCAGGGGCCACAGTCCCTCCCTGCCCCTGCCCCTGCCCCTGCCCAGCCCCTAGCCCTTACCTTGGGTATCAGGAGCCAGTGGAGCCACCAGCCTGGCCAAGGGCTTCCCTGGCAGGTCTGAGAAGCCCAGCCCATTGCAGCCCAGCCGCTTCTGGGAGATGATAGCCTCCCTGAAAAGAGGACATGATGCCACCTTGAGAGCCCCCGACTCAGGGAGGAACGAGGCCTGGCCTGGGAACACAGGACAGTTTGGACCCTGCACATGTGCAAGGATCTGGGCAAGCTGACCTGCCTCAGGTTGGACACGATGACAGCACAAGTAAAAAAGTAGGGGACCCTGGACCCTATGTGGAGAAACAGGCAGCCACAGTTTGGCCTCTGGTGCCCCTTGCTGGTAAAGGCTCGGGTGGGGCCCAGTGCAGATCTTCCAGGCAGTGGGAGAGCAGAGGAAGTGAATGCAGGGGCTCAAAGCTAGGCTGCCTGCTACAATCTGACCTTAGGCACATGACCTGACCTCTCTGATCTTCCCAAGGAGAACTAGGGTGGAGAGAGAAGAACCCTCCCTGTCACCATCCTCAGAAAACAATTGTTGATCAGCTTTTAGTGCTAAGCACAGGAGGTAATCATCATAACTAAAGTTTATTGGCCATTTCCTATGTCCCGTGCACAGCCCAAGCAACTCACATAGATGAACTCAGAATTCCCAGCAATTCTATGAATTAGATATCTTCATTTTCAGATGGAGAAGCTATGGCACCAAGAGGCTAATTCACTTGCCCAGGGTTACACAGTGAATAAGCGGTAGAGCCAGGATTTGAACCCAGGTAGGTGGCACCAGGGCTAGGTCTAACCACTATGCTGGAACCTTCCCAAATACCTGTGGAGGTGTGAGCTTTGAACAGGGGGCAGGTGTGAGTGGCAGGGTATGACAGTGGCAGAGGGGTGGTGGGAACCAAGGCAGGGGAGGTTGGTATGGGAAGAATGAGTTTCTCTCTGTCCCACCACACAACCCACCTCCTCTACCCCCCAGCCTCTGGCTCATCCCGCTTAATTAAGCACCTGAGTTTGCACCAAATGTCACTCCTTGATGATTAATTGTCCTGGGTTCTTCATCCCTCATGCTGCCTCCACTTAATTGTGCTTGTAGGAACTGCCTGGCCTGGACAGAAGAGAAACTTGGGGAACTGTGTGCATACAGGGTCACTAAGGGAAGCCCAGCAAAGGTCACATGAGG
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Task1_train_16286
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A variant affecting Chromosome 11, within the gene RELT (RELT TNF receptor), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Amelogenesis imperfecta, type 3C
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ACCCTGTCATCACGGACACAGGCCGCCACACGCGCTTCCTTCCCCTGCTGATGCCTCGGGGCACCTGGCAGTTTAAGGAAGGGGAAGGAAGCCCTTCCTCCTCTGGGAAGCCTCCCAGCCTGCAGAGCCTTCTTCCTGCCTTCCTGCCTGTGCTGCCCCGTGAGGCCGGCTCCCAGGCAGGGCAGCCCCCTCTGCTTGGGCCTGTGCTTGCGGGTGTGGAGCCGGCCTCCCCGGGCTCTGCCTGCCCAGCAGCACCTTGCCTGCTCCCCATGAGTCCTGTCATCCTGGAAGTGGTGCTGAGGGGACAGCAGCTGCCTGCCTGTCCCTGCCGCTCTGCCGAGCCTCCTCTCCATCTGCCCTAGGCCGGCGACCACCAGGGGCCTGAGGATGAAGCCAAGTCTGCTGTGCCGGCCCCTGTCCTGCTTCCTTATGGTGAGCTGGGGATGGGCCCTGGGAAGGAGAAAAGCCGCACCCTCAGCCCTGCAGCCCTCCAGCAAGAGGGTGCAGACACTCCCGGGGAACCCCCTGCTGGGCAGGGCTCAGTTACTCAGCTCGTCAAGAATCTGAGGCAGCTGGACCCTAGGAAGCACCTCTGGGCCCACCCAGGCTTGTCAGGGAGATGGAGAATGAAGGGCTTGCTGGCATTTATGGGCAAGGCAGGCATGGCTGAGGGCAAGATGCCCATTGGCACGCAGGCATGAGAACGGAGCCCAGCCCAGAGGGTATGCTGGGCACCAAGAGGAAACTGGGCAAAAGAGGCCTGGGATTTGGACCCTGAGAGCCATAGCACCTCAGGTGCTGGGGTTCAAGATCTGTATTGGTCTGGGGGATCCCAGATTCCAGGTCCCAGGATCACAGGATCAGGCCAGCTGCCCGGAGCTGCAGGCAAGTCCACATTACAGACTTGCAGCATCTTGGGGTCTGCCCTGGGGCCCATCTTTCTGCTGTGACGCTAGAAGCTCAGGGAGGGTGAGACTTGGCCTTGGGCCTTGCTAAGGGTTGCTCCATGTACAGGAGGCCTTCCAGCCTTAGCAGGTGCTGGGAGCCGCTCTGGGGTCTGAGGAGATCCCTATTCCATCTCCAGGGCAGCTGATGGTAGCCTCATCCAGCCTAGGCCAAATTGGGGGACTCTAGGAGGGATTCAGGAGAGACAGTTCATTCCTAAGAATGGGAAGCAGAGAGAACTCCTAGTGAAATGGGCTGGGGACACACACTGAGAAGATGGAGCTTTCTTTTGGGATGCGTCTCCCTGTTTGGGTGTGTGGGTGTGAATGGGGTAGCCTCGCCTTGAGGGAAGATTGCAGAGGAGGATGTGGTCCTGGAGACTTTCGCTGAAGGGAGAGCCCAGAATAGGAAGCGCCACCTGCAGACTTGGCTCCAGGGATTATAAATGAGGCTGGTTAATGATATGCCCAGCTGTGATGGGGCCAGGGATGGACCCAAAGTAGGAGGAAGTGGGGGCAGAATACGAGAGAGGATTCGGAAGCATTTCCTCCTCATCGTTCTGGTTAGCTGGAAGGGCTTGAGATCCTGATGTGGCCTTATCTGGGGCTTTCCAGCACTTTCCAGAGCCAGATGTGGCTCTCTCCTTGCCCAGGTACTGGTCTTGCAGCAGGTCTGGGACAGGACAGGTTTTCCTCAGTGTGAGGGATTGAGGTTAGAAGAGTGTGTCCCTGAAGCCCGGGTGGGGTAGTCAGTGGTCCCTACCACTGGGGTTTCAGGAAATAGGTGGGGGATAGATGACCCCAGAGACCCCACACCCAGCACTTTCTGCCTCTTTCAATGCCTACTGTTCTTCTAGCTGCTGCCCTGGCCTCTCGCCACCCTGACATCAACAACCCTTTGGCAGTGCCCACCTGGGGAGGAGCCCGACCTGGTGAGCATTGCCCTGCTCTCCTGCCTGTCCTGGGAGGGCCCTGAGGGCCAGGGGCAGAGTCCTGTGCCTGGCCCCCAAGGGTCCTCAGGCTTGGCTCCTGGCCATGCTCTCACCCTTTACCTCCCACAGGACCCAGGGCAGGGCACATTATGCAGGCCCTGCCCCCCAGGCACCTTCTCAGCTGCATGGGGCTCCAGCCCATGCCAGCCCCATGCCCGTTGCAGCCTTTGGAGGAGGCTGGAGGCCCAGGTGGGCATGGCAACTCGAGATACACTCTGTGGAGACTGCTGGCCTGGGTAAGCCAAAGGGAGTGCGGGGAGGGCTCCTGGCTGGGTGACCAGGACTCTGGATCCTGGGGCCCCAGCCTTATTGTACCCTGAGCAGGCCTCATTCTTCCCATCTGTGAAATGGGATGGGGCAGGACCACGGAGGGTGCCTGGTAGGAAGGAATCCAGCCTCTCCTAAGGATAGTGTTTGGGGAAACTTCTGGGCCTCAGTGGTATCTTCCCTCCTCGCAGGTGGTTTGGGCCTTGGGGGGTTCCCCGCGTTCCATGTCAACCATGTTCCTGGGCACCTCTGGGTACTCATGGCTGTGATGGTGAGTGGCAGACTGGGGCTAGGACTGGTGCAGGGGTATGTGCGGGAGGGGCCAGTGAGTTGGAGCCCAGCAGCCTCTGCAGTGTTCATGTGGGGGCAGTGGGGTCCTTCTTCCAGCCCAGGGCAGGGCGTGCAGCCAAAGGGTCTCCAGCAGGGCACAGTCAGCCGCTCCCCTGGCTGTTTCTGCCCACCATGCTTCCGAGTGGCAGAGAGTGTCCTGCAGATGGCAGCCACAGCTGGGGGCTGGGGACTCACATACTGACCTGTCCCCTGTCCCCATCCCTTCAAAGAGATTCATGCCAGCCAAGTGCAGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTTGAGACCAGCTTGGGCAACATAGCAAGACCCTGTCTGCAAAAAATAAAAATAAAAAATTAGCCGGGCGTGGTGGTGCTACTCGGGAGGCTGAGGCGGGAGGATTGCTTGAGTCCATGATTTTCATGCTGCAGTGAGCTGTGATCGCCCCACTGCACTCCAGCCTGGGCAACAAGTGAGACCCTGCCTAAAAAAACCCATGCAGATGAGTGTGCGCATGCAAACACTCACATACCCACACGCACCTCCTCCCGCCACTGAGTCAGTCACCCCCTGAGGCACTAGATTCATGGCCAGGCCACAGGGAGGCAGATCCCACGTCCCTGTGCCCAGACATGTGTCCTGTGTGCCATCTCTTCACCCCCTGACCCCAGCGTGAGGGGAGGGTGGGGCTGGGTGTCTGGCCGTCCTGAGGAGGCCTTGTTCAGGACAATGCTTCGATGGCCAGAAGGGAAAACAGGAGGGCAGTGGGTTGACCTTTGCATCCCCAGCATGGCGGGGAGTGGGCTCCCCTGGGCACATTGGCTCTCCTGCAGCCCCCACTGACTCGGGCCCTGGGCCCCTGTCTCTCTGTGTTTGTGTCACTCTGCTTTTGTCCTGCCTCCATCGTCTGTGATGCTCAGAGTGGGGGCGGCGGGCCCGACGTGGCGTGGAGGTGGCAGCAGGGGCCAGCAGCGGTGGTGAGACACGGCAGCCTGGGAACGGCACCCGGGCAGGTGGCCCAGAGGAGACAGCCGCCCAGTACGCGGTCATCGCCATCGTCCCTGTCTTCTGCCTCATGGGGCTGTTGGGCATCCTGGTGTGCAACCTCCTCAAGCGGAAGGGCTACCACTGCACGGCGCACAAGGAGGTCGGGCCCGGCCCTGGAGGTGGAGGCAGTGGTGAGGCCCAGCTGGGGTCCAGGTGGGAAGGACGGGGGCACGAGCCCAGCCCCAGCTCCACTTGGGGGCTGCCAGCGGAATCCTGCCTGGCCTCTGGGGTCTGAGAGGGAGAGGCTTGGGAGGTGATAGCTGCAGACTGACAACATGGGAGGAAAGGTAAGGGGACGAAGGTGTGGCCGTGGGGGCAGAGCAGAGGTGGCACAGCTGGTCAAGTGGCTTCAGTGGATCCTACCCTGGGTGAAGCCTTGCCCAGATGTGGGGATCTGGACTCTTTGGAGGCCACAGTTGTGTGTATGGTTCCAGGGTCGGATGGTGGCCTTGGAGTTACTCAAGGTGACCTCTGACCTCTGGCCTGGAGTAGCAGGAGTGCCCTGTGG
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ACCCTGTCATCACGGACACAGGCCGCCACACGCGCTTCCTTCCCCTGCTGATGCCTCGGGGCACCTGGCAGTTTAAGGAAGGGGAAGGAAGCCCTTCCTCCTCTGGGAAGCCTCCCAGCCTGCAGAGCCTTCTTCCTGCCTTCCTGCCTGTGCTGCCCCGTGAGGCCGGCTCCCAGGCAGGGCAGCCCCCTCTGCTTGGGCCTGTGCTTGCGGGTGTGGAGCCGGCCTCCCCGGGCTCTGCCTGCCCAGCAGCACCTTGCCTGCTCCCCATGAGTCCTGTCATCCTGGAAGTGGTGCTGAGGGGACAGCAGCTGCCTGCCTGTCCCTGCCGCTCTGCCGAGCCTCCTCTCCATCTGCCCTAGGCCGGCGACCACCAGGGGCCTGAGGATGAAGCCAAGTCTGCTGTGCCGGCCCCTGTCCTGCTTCCTTATGGTGAGCTGGGGATGGGCCCTGGGAAGGAGAAAAGCCGCACCCTCAGCCCTGCAGCCCTCCAGCAAGAGGGTGCAGACACTCCCGGGGAACCCCCTGCTGGGCAGGGCTCAGTTACTCAGCTCGTCAAGAATCTGAGGCAGCTGGACCCTAGGAAGCACCTCTGGGCCCACCCAGGCTTGTCAGGGAGATGGAGAATGAAGGGCTTGCTGGCATTTATGGGCAAGGCAGGCATGGCTGAGGGCAAGATGCCCATTGGCACGCAGGCATGAGAACGGAGCCCAGCCCAGAGGGTATGCTGGGCACCAAGAGGAAACTGGGCAAAAGAGGCCTGGGATTTGGACCCTGAGAGCCATAGCACCTCAGGTGCTGGGGTTCAAGATCTGTATTGGTCTGGGGGATCCCAGATTCCAGGTCCCAGGATCACAGGATCAGGCCAGCTGCCCGGAGCTGCAGGCAAGTCCACATTACAGACTTGCAGCATCTTGGGGTCTGCCCTGGGGCCCATCTTTCTGCTGTGACGCTAGAAGCTCAGGGAGGGTGAGACTTGGCCTTGGGCCTTGCTAAGGGTTGCTCCATGTACAGGAGGCCTTCCAGCCTTAGCAGGTGCTGGGAGCCGCTCTGGGGTCTGAGGAGATCCCTATTCCATCTCCAGGGCAGCTGATGGTAGCCTCATCCAGCCTAGGCCAAATTGGGGGACTCTAGGAGGGATTCAGGAGAGACAGTTCATTCCTAAGAATGGGAAGCAGAGAGAACTCCTAGTGAAATGGGCTGGGGACACACACTGAGAAGATGGAGCTTTCTTTTGGGATGCGTCTCCCTGTTTGGGTGTGTGGGTGTGAATGGGGTAGCCTCGCCTTGAGGGAAGATTGCAGAGGAGGATGTGGTCCTGGAGACTTTCGCTGAAGGGAGAGCCCAGAATAGGAAGCGCCACCTGCAGACTTGGCTCCAGGGATTATAAATGAGGCTGGTTAATGATATGCCCAGCTGTGATGGGGCCAGGGATGGACCCAAAGTAGGAGGAAGTGGGGGCAGAATACGAGAGAGGATTCGGAAGCATTTCCTCCTCATCGTTCTGGTTAGCTGGAAGGGCTTGAGATCCTGATGTGGCCTTATCTGGGGCTTTCCAGCACTTTCCAGAGCCAGATGTGGCTCTCTCCTTGCCCAGGTACTGGTCTTGCAGCAGGTCTGGGACAGGACAGGTTTTCCTCAGTGTGAGGGATTGAGGTTAGAAGAGTGTGTCCCTGAAGCCCGGGTGGGGTAGTCAGTGGTCCCTACCACTGGGGTTTCAGGAAATAGGTGGGGGATAGATGACCCCAGAGACCCCACACCCAGCACTTTCTGCCTCTTTCAATGCCTACTGTTCTTCTAGCTGCTGCCCTGGCCTCTCGCCACCCTGACATCAACAACCCTTTGGCAGTGCCCACCTGGGGAGGAGCCCGACCTGGTGAGCATTGCCCTGCTCTCCTGCCTGTCCTGGGAGGGCCCTGAGGGCCAGGGGCAGAGTCCTGTGCCTGGCCCCCAAGGGTCCTCAGGCTTGGCTCCTGGCCATGCTCTCACCCTTTACCTCCCACAGGACCCAGGGCAGGGCACATTATGCAGGCCCTGCCCCCCAGGCATCTTCTCAGCTGCATGGGGCTCCAGCCCATGCCAGCCCCATGCCCGTTGCAGCCTTTGGAGGAGGCTGGAGGCCCAGGTGGGCATGGCAACTCGAGATACACTCTGTGGAGACTGCTGGCCTGGGTAAGCCAAAGGGAGTGCGGGGAGGGCTCCTGGCTGGGTGACCAGGACTCTGGATCCTGGGGCCCCAGCCTTATTGTACCCTGAGCAGGCCTCATTCTTCCCATCTGTGAAATGGGATGGGGCAGGACCACGGAGGGTGCCTGGTAGGAAGGAATCCAGCCTCTCCTAAGGATAGTGTTTGGGGAAACTTCTGGGCCTCAGTGGTATCTTCCCTCCTCGCAGGTGGTTTGGGCCTTGGGGGGTTCCCCGCGTTCCATGTCAACCATGTTCCTGGGCACCTCTGGGTACTCATGGCTGTGATGGTGAGTGGCAGACTGGGGCTAGGACTGGTGCAGGGGTATGTGCGGGAGGGGCCAGTGAGTTGGAGCCCAGCAGCCTCTGCAGTGTTCATGTGGGGGCAGTGGGGTCCTTCTTCCAGCCCAGGGCAGGGCGTGCAGCCAAAGGGTCTCCAGCAGGGCACAGTCAGCCGCTCCCCTGGCTGTTTCTGCCCACCATGCTTCCGAGTGGCAGAGAGTGTCCTGCAGATGGCAGCCACAGCTGGGGGCTGGGGACTCACATACTGACCTGTCCCCTGTCCCCATCCCTTCAAAGAGATTCATGCCAGCCAAGTGCAGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTTGAGACCAGCTTGGGCAACATAGCAAGACCCTGTCTGCAAAAAATAAAAATAAAAAATTAGCCGGGCGTGGTGGTGCTACTCGGGAGGCTGAGGCGGGAGGATTGCTTGAGTCCATGATTTTCATGCTGCAGTGAGCTGTGATCGCCCCACTGCACTCCAGCCTGGGCAACAAGTGAGACCCTGCCTAAAAAAACCCATGCAGATGAGTGTGCGCATGCAAACACTCACATACCCACACGCACCTCCTCCCGCCACTGAGTCAGTCACCCCCTGAGGCACTAGATTCATGGCCAGGCCACAGGGAGGCAGATCCCACGTCCCTGTGCCCAGACATGTGTCCTGTGTGCCATCTCTTCACCCCCTGACCCCAGCGTGAGGGGAGGGTGGGGCTGGGTGTCTGGCCGTCCTGAGGAGGCCTTGTTCAGGACAATGCTTCGATGGCCAGAAGGGAAAACAGGAGGGCAGTGGGTTGACCTTTGCATCCCCAGCATGGCGGGGAGTGGGCTCCCCTGGGCACATTGGCTCTCCTGCAGCCCCCACTGACTCGGGCCCTGGGCCCCTGTCTCTCTGTGTTTGTGTCACTCTGCTTTTGTCCTGCCTCCATCGTCTGTGATGCTCAGAGTGGGGGCGGCGGGCCCGACGTGGCGTGGAGGTGGCAGCAGGGGCCAGCAGCGGTGGTGAGACACGGCAGCCTGGGAACGGCACCCGGGCAGGTGGCCCAGAGGAGACAGCCGCCCAGTACGCGGTCATCGCCATCGTCCCTGTCTTCTGCCTCATGGGGCTGTTGGGCATCCTGGTGTGCAACCTCCTCAAGCGGAAGGGCTACCACTGCACGGCGCACAAGGAGGTCGGGCCCGGCCCTGGAGGTGGAGGCAGTGGTGAGGCCCAGCTGGGGTCCAGGTGGGAAGGACGGGGGCACGAGCCCAGCCCCAGCTCCACTTGGGGGCTGCCAGCGGAATCCTGCCTGGCCTCTGGGGTCTGAGAGGGAGAGGCTTGGGAGGTGATAGCTGCAGACTGACAACATGGGAGGAAAGGTAAGGGGACGAAGGTGTGGCCGTGGGGGCAGAGCAGAGGTGGCACAGCTGGTCAAGTGGCTTCAGTGGATCCTACCCTGGGTGAAGCCTTGCCCAGATGTGGGGATCTGGACTCTTTGGAGGCCACAGTTGTGTGTATGGTTCCAGGGTCGGATGGTGGCCTTGGAGTTACTCAAGGTGACCTCTGACCTCTGGCCTGGAGTAGCAGGAGTGCCCTGTGG
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Task1_train_16287
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Consider this mutation in RELT (RELT TNF receptor) on Chromosome 11. Is this a benign change or a disease-causing variant?
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Pathogenic; Amelogenesis imperfecta, type 3C
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TTGTTACATAGGGCACAGTAGAGAGGCCATGGAATAGCAGTTTGCTGTAGATTTGGGGAGTTCTGGGTAGGGTGGCAGCCCACAGCTCCTTGAGGCTGAGGAGGAGACAGTGCAGACCCAGAAGACGCTGACGCACCGCCCCCTCGCCCGCCCAATTCAATGACTGGAGTTCACGTGGCCCTGAAGCCTCTATGCACCCGGGCTGTTGGGTGCAGGAAGCACTGGTGTTGAATCATGAAGGTGATATGGGCTTCTCTGAGCCTGGATCCCACATTTGCAGGGCTCTGGGAGGCTTGTCACCTAAATGCACATGCTCAGGGCCCTTAAGAAGGCCAGGGTTGCCCTCTGCTGGCAGATCATGGTTTAGCTCAGGAGTGCGGCTTCCCCCTCTTCCCCAGGATCAGGGCCCTTCTCTTCCCCAGGAATCAACCCTGCCTACCGGACTGAGGATGCCAATGAGGACACCATTGGGGTCCTGGTGCGCTTGATCACAGAGAAGAAAGGTGAGGAGAAGGTCTGACCCCATCCCAGTGCCCAGGAGAGGAGGGTTTCCTCCAGGAGCCTGTGAGGCAGCCGCGGTGGGCAGAGTCTTGCCCTGCTCTGCCTTCCCTGCCAGGGTGCCTCAAGCAGCCTGGTGCTCTCTGACCCAGGAGTGCACACCTCTGCCTCCCATTCTTGCCTGATGAAGTGGGAGGAAAAGGCGCACAGCCCAGGCTGGGAGTGGTGGTATGGAGGGTAGGTGGGGGGTTCTCTGCTGGGGCAGGGGGTGGGAGGTGTGTCCCATATGGCCACAGTGAGGGTCTGACTGCAGCTACCCACAGAGAATGCTGCGGCCCTGGAGGAGCTGCTGAAAGAGTACCACAGCAAACAGCTGGTGCAGACGAGCCACAGGCCTGTGTCCAAGTGAGTGGGCTGGTGGGAGATAACGGGGCCAAAACCTACATTAACCAGCCTGCCTCCTGGGGATCTCCCACTTGGGTCTCCCTCAAGTCACCCTGTTCCCTGCTGGGGTCTCCTGCCCCTGGCCTGGCCTATGGCCACTTCTGCCTGTGCCCCCTGCAGGCTGCCGCCAGCGCCCCCGAACGTGCCACACATCTGCCCGCACCGCCACCATCTCCACACCGTGCAGGGCCTGGCCTCGCTCTCTGGCCCCTGCTGCTCCCGCTGTAGCCAGAAGAAGTGGCCCGAGGTGCTGCTGTCCCCTGAGGCTGTAGCCGCCACTACTCCTGTTCCCAGCCTTCTGCCTAACCCGACCAGGGTTCCCAAGGCCGGGGCCAAGGCAGGGCGTCAGGGCGAGATCACCATCTTGTCTGTGGGCAGGTGAGATGGGCACAGATGCAGCAGGGGCAGGTAAAGACGTGACAGCCTGGGGGCCGGGAGGGGGAGGCAGGGCCCCAGCTTGGGCCCTGAGCACCCTGCTCAATGGGAGCCCTGCCCTTATTGGGCCTCTCTGGGCAGTGGAGGCGGCCAGAGAGATCAGGACTTTCCGGTTATGTTGTGTCTCACATGGAGCCCTTGCATCCCTAGGGCAGCATCTTGGCCCCCATGGCACCCGGGCCTCTCAGGCTAAGGCTCTGGTCCATGAACTTGCTGTGTGACCCCGGGCACGTGCTGCCTTCTCTGTGCCCCGGGATCCCCGCTAACGGGGATGATTGCCCCACTCTCCTCACAGGTTCCGCGTGGCTCGAATTCCTGAGCAGCGGACAAGTTCAATGGTGTCTGAGGTGAAGACCATCACGGAGGCTGGGCCCTCGTGGGGTGATCTCCCTGACTCCCCACAGCCTGGCCTCCCCCCTGAGCAGCAGGCCCTGCTAGGAAGTGGCGGAAGCCGTACAAAGTGGCTGAAGCCCCCAGCAGAGAACAAGGCCGAGGTGAGAGTCAAGGAGAAAGGCATCTGTTGGCACCTGGGCCAACCCTGACCGAAGACGGGGCAGGGGTGGAAGTGCAGCGGGCCCTAGGCAGGGGCCACTTTCCTGGAGCCAGAAGCCAGCCCCTGACTCAGCTCTGACCCCTCACCCCTGCCCACCAGGAGAACCGCTATGTGGTCCGGCTAAGTGAGAGCAACCTGGTCATCTGAGGGGCGGTCTAGTCTAAGGACACTGCGGCCCTGCCCTGGGAGGTTCCGAAGGCTTCCTGGAGGAGGTGGAGCTGCAGCTGGGACTGTGAGGACCGAGAAGCAATGGCCCAGCAGACGAGACAGCAAAGACCAAGGCCTGGAGGTGGGAGCGTCTGCCCCAGTGAGGAGGCAGGTGGCCGGCGGGCACTGTGTACAGGAGCAGGCTGAGCCCCGCCCCTGGCCCTGCTGCCATGTTGCTCCCCTGAAGGATGCCCCGACCCCCGTGCCTGCCCTGGCTGGATCCTAGGAGCCCACGGGATTCTCTGTATCATCAGAGGCTGGGCTTGGCAGAGGGGAGGGGCCTGTGCCCGTCACCCCTGGCCCCATTCCTTGGTAATTAGCCACACCCTTGCCTCTGTACAGGGCCCTAGAGCAGATGTGCGTCCCCCTCCTCTTCCAGCAGGTCTATAAAGGGAAGGGGTAGCAGAAAGTCCTGGGCTAGGAGAGTGAGTCCCTGGGTTCTAATCTTGGGCACATCTGTGGCCATCGCTGGGTCCATTTTTCTGACTGTGAAGTAAGGAGAGACGTCTCAGTACCCAGGGCCTCTTCAGCTCTTTGTAGGTTCTGGGCTGGGTTGTGGGGGACTGGGGAGCTGGGCTCTACCATCCCTCCCATTAGTAGCTTTATCCAGCCCCGTTTTTGCTGCTTCCAGGGCCTCTGCCTTCAAGGCCCCCATGGGGCTGTCCATCCATGGCTCTGCCTACGGAAGGGGCTTAATGCATGTGCCTGCCCCTCCCCCAGCTGTTTTTAATGAAACTGAAAAAATAGACTTGATCCCGGCAGGACTGTGATACAGAGCCCTAGCCTGCCCAGCCAGCCCCAAGATCTCAGGAGCTTTAGGGAGAAGACTTGGTGGGGCTGGAGCACACCTTGGGCCTCAGTGGTTTCTGTGTCCCTGTGGTGCCAGTGCTTCTGGGCAGTGCAGGCGGCTGCCAGGCCCAGCCCTGACTTCCACTCTGGCTCAGCAACCTGGTTATTTATGTGGGGCCGTGCAGGCATGGGCCCACTGCCTGTCCATCCTGTTTCTCTTATTTATTGAAACTCACCATTGCCCTATCCTTGTGTCTCCACCCCCTTCCATGTGTTGAATAATAAAAGGTGGGAAAGTGCTGTCACGAGGAGCTCCTTTTCTCTGTGCCCTTCCCAGCTTATCCGCCTGTTCCACTTGTACCTGTCCAGCCCTGCCCTGTGTTGGGCACCGTGACAGGCTGCCCTCCCCTCACAGTTCCTGCACCTCAGCAGCCAGGGAAGCAGGGCCCAGAGGAGACCCATCAACTCATCTGGTTCTCACCAAAGCCCCTAGCTAGAGGCAGGGCTGTCCCACAGAAATAGTGTGAGCCACATATGTGACTTTAAATTTTCTGACAGTCACATTTCAAAAAGTAAAAAGAAGCAGGTGAACTTAATTTTTTTTTAACCCAGTCTATCCAAAATATTTTCATTTCAATATAAAATCAGTATAAAAAGTGTGAATGAGCTGTTTTTGCTTTTGCTTTGAAATCTGGAGTGTATCTTACACATCTTGATTGGAACTCAAATATTTCAAGGGCTCCATAGCCACGTGGCCAGCAGCTACCACACTGGTCAGCGCAGCACCTGAGGAAATGCACTGTGTGGAGCCCGGGAGGTAATTGGGGGTGAGGAAGATGTGCGGGCCAGGGAATGTGTTCCACAGAGAGGGACAGCATGTGCAAAGGCTGAGCACCAACACATAGTGGTCACCTGGGCCTTATGCCCAGGGAGCCTCCAAAGCATTCAGCTCCTGCTTGGCCAGTGTGGAGAGGAAAGGAGCCACAGGAGCGGGTGCTACACCCGGCAAGACAGAGCGTCTCCATCTAAAATTCCTAGGGCAAGCTTCCAACCCGGCCCAAGGGCCGCATGTGGCCCAGGATATGGCTTTGAATGGGGCCTAACACAAATTCATAAACTTTCTTAAAACATTGAGATGTTTTTGCTTTTTTCTTTTCTTTTTAGTTCTTC
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TTGTTACATAGGGCACAGTAGAGAGGCCATGGAATAGCAGTTTGCTGTAGATTTGGGGAGTTCTGGGTAGGGTGGCAGCCCACAGCTCCTTGAGGCTGAGGAGGAGACAGTGCAGACCCAGAAGACGCTGACGCACCGCCCCCTCGCCCGCCCAATTCAATGACTGGAGTTCACGTGGCCCTGAAGCCTCTATGCACCCGGGCTGTTGGGTGCAGGAAGCACTGGTGTTGAATCATGAAGGTGATATGGGCTTCTCTGAGCCTGGATCCCACATTTGCAGGGCTCTGGGAGGCTTGTCACCTAAATGCACATGCTCAGGGCCCTTAAGAAGGCCAGGGTTGCCCTCTGCTGGCAGATCATGGTTTAGCTCAGGAGTGCGGCTTCCCCCTCTTCCCCAGGATCAGGGCCCTTCTCTTCCCCAGGAATCAACCCTGCCTACCGGACTGAGGATGCCAATGAGGACACCATTGGGGTCCTGGTGCGCTTGATCACAGAGAAGAAAGGTGAGGAGAAGGTCTGACCCCATCCCAGTGCCCAGGAGAGGAGGGTTTCCTCCAGGAGCCTGTGAGGCAGCCGCGGTGGGCAGAGTCTTGCCCTGCTCTGCCTTCCCTGCCAGGGTGCCTCAAGCAGCCTGGTGCTCTCTGACCCAGGAGTGCACACCTCTGCCTCCCATTCTTGCCTGATGAAGTGGGAGGAAAAGGCGCACAGCCCAGGCTGGGAGTGGTGGTATGGAGGGTAGGTGGGGGGTTCTCTGCTGGGGCAGGGGGTGGGAGGTGTGTCCCATATGGCCACAGTGAGGGTCTGACTGCAGCTACCCACAGAGAATGCTGCGGCCCTGGAGGAGCTGCTGAAAGAGTACCACAGCAAACAGCTGGTGCAGACGAGCCACAGGCCTGTGTCCAAGTGAGTGGGCTGGTGGGAGATAACGGGGCCAAAACCTACATTAACCAGCCTGCCTCCTGGGGATCTCCCACTTGGGTCTCCCTCAAGTCACCCTGTTCCCTGCTGGGGTCTCCTGCCCCTGGCCTGGCCTATGGCCACTTCTGCCTGTGCCCCCTGCAGGCTGCCGCCAGCGCCCCCGAACGTGCCACACATCTGCCCGCACCGCCACCATCTCCACACCGTGCAGGGCCTGGCCTCGCTCTCTGGCCCCTGCTGCTCCCGCTGTAGCCAGAAGAAGTGGCCCGAGGTGCTGCTGTCCCCTGAGGCTGTAGCCGCCACTACTCCTGTTCCCAGCCTTCTGCCTAACCCGACCAGGGTTCCCAAGGCCGGGGCCAAGGCAGGGCGTCAGGGCGAGATCACCATCTTGTCTGTGGGCAGGTGAGATGGGCACAGATGCAGCAGGGGCAGGTAAAGACGTGACAGCCTGGGGGCCGGGAGGGGGAGGCAGGGCCCCAGCTTGGGCCCTGAGCACCCTGCTCAATGGGAGCCCTGCCCTTATTGGGCCTCTCTGGGCAGTGGAGGCGGCCAGAGAGATCAGGACTTTCCGGTTATGTTGTGTCTCACATGGAGCCCTTGCATCCCTAGGGCAGCATCTTGGCCCCCATGGCACCCGGGCCTCTCAGGCTAAGGCTCTGGTCCATGAACTTGCTGTGTGACCCCGGGCACGTGCTGCCTTCTCTGTGCCCCGGGATCCCCGCTAACGGGGATGATTGCCCCACTCTCCTCACAGGTTCCGCGTGGCTCGAATTCCTGAGCAGCGGACAAGTTCAATGGTGTCTGAGGTGAAGACCATCACGGAGGCTGGGCCCTCGTGGGGTGATCTCCCTGACTCCCCACAGCCTGGCCTCCCCCCTGAGCAGCAGGCCCTGCTAGGAAGTGGCGGAAGCCGTACAAAGTGGCTGAAGCCCCCAGCAGAGAACAAGGCCGAGGTGAGAGTCAAGGAGAAAGGCATCTGTTGGCACCTGGGCCAACCCTGACCGAAGACGGGGCAGGGGTGGAAGTGCAGCGGGCCCTAGGCAGGGGCCACTTTCCTGGAGCCAGAAGCCAGCCCCTGACTCAGCTCTGACCCCTCACCCCTGCCCACCAGGAGAACCGCTATGTGGTCCCGCTAAGTGAGAGCAACCTGGTCATCTGAGGGGCGGTCTAGTCTAAGGACACTGCGGCCCTGCCCTGGGAGGTTCCGAAGGCTTCCTGGAGGAGGTGGAGCTGCAGCTGGGACTGTGAGGACCGAGAAGCAATGGCCCAGCAGACGAGACAGCAAAGACCAAGGCCTGGAGGTGGGAGCGTCTGCCCCAGTGAGGAGGCAGGTGGCCGGCGGGCACTGTGTACAGGAGCAGGCTGAGCCCCGCCCCTGGCCCTGCTGCCATGTTGCTCCCCTGAAGGATGCCCCGACCCCCGTGCCTGCCCTGGCTGGATCCTAGGAGCCCACGGGATTCTCTGTATCATCAGAGGCTGGGCTTGGCAGAGGGGAGGGGCCTGTGCCCGTCACCCCTGGCCCCATTCCTTGGTAATTAGCCACACCCTTGCCTCTGTACAGGGCCCTAGAGCAGATGTGCGTCCCCCTCCTCTTCCAGCAGGTCTATAAAGGGAAGGGGTAGCAGAAAGTCCTGGGCTAGGAGAGTGAGTCCCTGGGTTCTAATCTTGGGCACATCTGTGGCCATCGCTGGGTCCATTTTTCTGACTGTGAAGTAAGGAGAGACGTCTCAGTACCCAGGGCCTCTTCAGCTCTTTGTAGGTTCTGGGCTGGGTTGTGGGGGACTGGGGAGCTGGGCTCTACCATCCCTCCCATTAGTAGCTTTATCCAGCCCCGTTTTTGCTGCTTCCAGGGCCTCTGCCTTCAAGGCCCCCATGGGGCTGTCCATCCATGGCTCTGCCTACGGAAGGGGCTTAATGCATGTGCCTGCCCCTCCCCCAGCTGTTTTTAATGAAACTGAAAAAATAGACTTGATCCCGGCAGGACTGTGATACAGAGCCCTAGCCTGCCCAGCCAGCCCCAAGATCTCAGGAGCTTTAGGGAGAAGACTTGGTGGGGCTGGAGCACACCTTGGGCCTCAGTGGTTTCTGTGTCCCTGTGGTGCCAGTGCTTCTGGGCAGTGCAGGCGGCTGCCAGGCCCAGCCCTGACTTCCACTCTGGCTCAGCAACCTGGTTATTTATGTGGGGCCGTGCAGGCATGGGCCCACTGCCTGTCCATCCTGTTTCTCTTATTTATTGAAACTCACCATTGCCCTATCCTTGTGTCTCCACCCCCTTCCATGTGTTGAATAATAAAAGGTGGGAAAGTGCTGTCACGAGGAGCTCCTTTTCTCTGTGCCCTTCCCAGCTTATCCGCCTGTTCCACTTGTACCTGTCCAGCCCTGCCCTGTGTTGGGCACCGTGACAGGCTGCCCTCCCCTCACAGTTCCTGCACCTCAGCAGCCAGGGAAGCAGGGCCCAGAGGAGACCCATCAACTCATCTGGTTCTCACCAAAGCCCCTAGCTAGAGGCAGGGCTGTCCCACAGAAATAGTGTGAGCCACATATGTGACTTTAAATTTTCTGACAGTCACATTTCAAAAAGTAAAAAGAAGCAGGTGAACTTAATTTTTTTTTAACCCAGTCTATCCAAAATATTTTCATTTCAATATAAAATCAGTATAAAAAGTGTGAATGAGCTGTTTTTGCTTTTGCTTTGAAATCTGGAGTGTATCTTACACATCTTGATTGGAACTCAAATATTTCAAGGGCTCCATAGCCACGTGGCCAGCAGCTACCACACTGGTCAGCGCAGCACCTGAGGAAATGCACTGTGTGGAGCCCGGGAGGTAATTGGGGGTGAGGAAGATGTGCGGGCCAGGGAATGTGTTCCACAGAGAGGGACAGCATGTGCAAAGGCTGAGCACCAACACATAGTGGTCACCTGGGCCTTATGCCCAGGGAGCCTCCAAAGCATTCAGCTCCTGCTTGGCCAGTGTGGAGAGGAAAGGAGCCACAGGAGCGGGTGCTACACCCGGCAAGACAGAGCGTCTCCATCTAAAATTCCTAGGGCAAGCTTCCAACCCGGCCCAAGGGCCGCATGTGGCCCAGGATATGGCTTTGAATGGGGCCTAACACAAATTCATAAACTTTCTTAAAACATTGAGATGTTTTTGCTTTTTTCTTTTCTTTTTAGTTCTTC
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Task1_train_16288
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Gene DNAJB13 (DnaJ heat shock protein family (Hsp40) member B13) 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; Primary ciliary dyskinesia 34
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GAGACCTCAGCAGAGTTTTGGTGACTTAATGAAGTTTGGGACAGGGGTGTCATGCCTGGAGTTACTAGCAAGACAGAGACATACGGGCAGTTGCCTGACGCCCAGCTTAGTGTTCCACCTGCCTGCCGTCTGAGGAAGCCTCTCCGCCCCTCCAGCTGAGTGTGTCTATTTTGGGCATGCTCAGTACAGAAGTAATTCTGGGGGGATTCATTTGGGTAAGCTTCTCGGGCTTCTAATCCATCTGGGCTATGGGGGCCAAACTGAAAAGGCCCTTCCAGAAAACCTGCTCTCATCTCCCCATTGTACAGATGAAGACATGGAGACAAGTAGAGGCAGGAACTTGGCCAAGGTCACACGGCCAACTAGTCCTTGTCACCTTTTGGCGTCCCCTGCCCAGGGCCCCAACATCATCCCAGCAGACATCATTTTCATCGTAAAGGAGAAGCTACACCCTCGCTTCCGCAGGGAGAATGACAACCTCTTCTTCGTGAACCCCATCCCTCTTGGCAAGGTGAGTGGGCAAAGTGCAGGAGCAGCGGGGAGGAGATCAGAGTGAGCCCTGCCTGCCCCGGCCTAGACTTGGCCTCCCCTCCCACAACCACCTGCCATCAGTCACTAAGCCCTGTGGATTCCACCCTCTAAATCACCATCCACTTGGTCCCGTCTGCTCATCTGCACCGCCTGGATCTGTACACCAGATCTGCGCAGCAGGCCTTCCTCCCCACTTCTCATCTCCTCCAGGCTCTTCTCCTTAGGGATCCTGCCACACACTCATCAGACCCTGCCACACTCCTGTCTAAACATCTTTGTGCCACTGGAGGCCCTCTGCGATCTGCTCCCTGCTTACTCCTTCCCCTGCACTCCCGCCCCTTCGCCGCATAGCACCCTGCCTGTGTGGCGCATTGTCACACCTCCGTTCTCATTTCTGCTGGGCCCTCTCCCTGGAATGCTGTCTATTCACCTGACCCTATAGGGTCCTCATCAATAGCTACCACCACTGCTACCACTTCCTGCCCCACTCCTGAATGGTTTAGGGGCCTCTCCTTGGCTCCCACAAACGCTTTTATTCTGTCTCCATCATTACATTTATACAACATCCATCTTACCTGCCAGATCCATCCATCTTTCCTGCCAGTGCAGAAAATTGCATGGGTCATTCACCTATTAGTTATTGAACAGCCTCGTCTCCCTTGTGCCCAACTCACAGTCTGGCACTGGACAGGTTCCTAAGGTGCCTTCTAAATAGGAGAGCCATGGTGACCCTCCTCAGCCCCACCTTTGGCCCTGACCCTCCCTAGGCTCTCACCTGCTGCACTGTGGAGGTGAGGACCCTAGATGACCGTCTGCTCAACATCCCCATCAATGACATCATCCAGTGAGTCCATCTGCCTTGGGCCCCAGTAGCCAAGAGAAGGGCTAGCCTGGGATTTAGGTGGTAGTGTGACAGGTCTGCCCAGTAGAGTTGTACAGGCTGCCCCCAGCAGAAGGGTTCCCTGCTGAGGGGATAGAGAGGACCAAAACTGAACCCACACTGGCCAAGCTGTGGGCTGCAATCACCTGGCAAAAGGAACATCTTTTTCTAATCCACACAAAGCCACTGCAGAGGCTAGAGGCCCCCATTGTTGGGCAACCCTGTAGCCTCCATGCCCTGCAAACTTCTCATTAGAGTTCTGAGTTGCATATCCTAAGTCCTTTTCCAAGAAAGGCCCTCTGCCCGTGAGGAGGTTTGCCTGGCAGCCCAGCACCCTCGCCCTCACCCCAGGGTTTGCTCACCTTTACTTCCCGTTTCCCATGTCTTAAACAAAGTTTCTGGAATCCTCCATCAGAGACTCAGTGTAAACAGGTTTTCAGGGAGCTCCTTTCCCAACCAGTTCTGGCTAAGAACCACTCCAGGTGAAGACTGCAGTGACTGTCCCCTTCCTGGGGTTATGTGAGTAGGGGTTATATGACAGGGACCTGCTGAGGTGCTGCTCTGGGATGCCCTCTATGCTCCTTTCTTTCATCCTATTTCAGCCCCAAATACTTCAAGAAGGTGCCAGGGGAGGGGATGCCATTGCCGGAGGACCCCACTAAGAAAGGGGATCTCTTCATCTTCTTCGACATCCAGTTCCCCACCCGCCTCACACCCCAGAAGAAGCAGATGCTGCGCCAGGCATTGCTGACATGACTGTGGTGGGCTGGAGCAGGGGTGAGAGGAGGCTAGCCGGGCCTCACCCCACCCCTACCCGCCACAGCCTCAGGGTGTGCAGGGGAGCCTGCTGCACAGATATGATACAAGGGTGGGATGGCGCAGGGCTTAAACTGACATAATAAAGATCTATTTCCTGTCCTCCAGCTACACCCACGAGAGTACATTGGAGAGGAGCTTCATATTAGCCCTTCTTGTGGGGCACAGGGAAGAAAGAGGCCTAAGGAGCTGAGTGCCTGAGTCCCTGTCCTGGCTTTGTGGGAAAGGGCAGGTAAGGGTTCAGATCCTCTGTGCTTCCACTTTGATAGAGTGGGGCAGGGCTGTGTGGCCTCTGAGGGTCTCTAGCTCTGCTCTGGCTTTTCATGACAGAAGAGACAATCTCTGGAGCATGATATGGTCACGTTAGAGACAGGAAAACTAAAGCACAAAAGAAAACATTCATTGCAGGTCACTCAGGCCTCAGTGGCAAAGCTGTCATCAGAACCTTGAAGGTGGCTGGGTGCGGTGGCTCATGCCTGGACTTTGGGAGGCCAAGGTGGGCGGATCACTTGAGGTCAGGAGTTCGAGACCAGCATGGCCAACATAGTGAAACCTCGTCTCTACTAAATACAAAAATTAGCCAGGTGTGATGGTGGGCACCTGTAATCCCAGCTACTCCAAAGGTTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGTTACAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGGGCGAAAGTGAAATTCCATCTCAAAAAAACTAGAAAGGCCGGGTGTGGTGGCTTATGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACTAGCCTGGCCAACATGGTGAAAACCCGTTTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGAGGGCCTGTAATCCCAGCTACTCGGCAGGCTGAGGCAGGCGAATCACTTGAATCCAGGAGGTGGAGGTTGCAGTGAGCCGAGACTGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAACAAAAAACAAAAAAAACCCCCAAAAACCTTGAAGGTCACTTCCCACAGACTCGCCCTGCGTAGAGAAGCAGCATAAAGAACACATGTGCACTGGAAACAGCTTTGGTTCTACCTCTCTGGCCTCAATCCCCTGGTCTGTGATAGGGTCCTGGGCAGGGTGATCTGGGAGGCAGGAAACCTGAGTTCTGACCCCAGCCCTGCCACTTTCTCCTGGGACCAGTCACCACACCTGTCTTGTCAGTAAAGCAGAGCCCATAACCCCCCTCACGGGCATGTTGTGAGGACAGAGAACATTGATGTGAAAGTGCTTGGTGAACTCACTGCTTAGATTCAGGAAGGGGTAACAGCACTGCTGCCCTCAAGGCCTGGAGTTCCAGCATCCAGGTCCAACTGGGCCTGCGTAGACCACACTTGCCTCCTCATAGTCAACACGTGTGTTATGCTCCCCTTCCATGCCAGGGAGGTTCCCTTCTAGAGTCTGAGCTTGGGTGAGGATAGATCCAGGCTTACGGGGAGTAGGTAGCCAATTCCATGGAATGCCTTCAGAGGTGCCAGAAAAGGCCCCATGTTCTCCAGATTGCTTGGGACTCCACCATTCAAATCACATCAGCTTAAGGTTTTTTTTTTAAAACGGGGGTTCAGTAGCACTTTTGTCATTAAAAAAATCACCATGGGCTGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACAAGGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACTTTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCATGCACTTGTAATCCCAGCTACTTGG
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GAGACCTCAGCAGAGTTTTGGTGACTTAATGAAGTTTGGGACAGGGGTGTCATGCCTGGAGTTACTAGCAAGACAGAGACATACGGGCAGTTGCCTGACGCCCAGCTTAGTGTTCCACCTGCCTGCCGTCTGAGGAAGCCTCTCCGCCCCTCCAGCTGAGTGTGTCTATTTTGGGCATGCTCAGTACAGAAGTAATTCTGGGGGGATTCATTTGGGTAAGCTTCTCGGGCTTCTAATCCATCTGGGCTATGGGGGCCAAACTGAAAAGGCCCTTCCAGAAAACCTGCTCTCATCTCCCCATTGTACAGATGAAGACATGGAGACAAGTAGAGGCAGGAACTTGGCCAAGGTCACACGGCCAACTAGTCCTTGTCACCTTTTGGCGTCCCCTGCCCAGGGCCCCAACATCATCCCAGCAGACATCATTTTCATCGTAAAGGAGAAGCTACACCCTCGCTTCCGCAGGGAGAATGACAACCTCTTCTTCGTGAACCCCATCCCTCTTGGCAAGGTGAGTGGGCAAAGTGCAGGAGCAGCGGGGAGGAGATCAGAGTGAGCCCTGCCTGCCCCGGCCTAGACTTGGCCTCCCCTCCCACAACCACCTGCCATCAGTCACTAAGCCCTGTGGATTCCACCCTCTAAATCACCATCCACTTGGTCCCGTCTGCTCATCTGCACCGCCTGGATCTGTACACCAGATCTGCGCAGCAGGCCTTCCTCCCCACTTCTCATCTCCTCCAGGCTCTTCTCCTTAGGGATCCTGCCACACACTCATCAGACCCTGCCACACTCCTGTCTAAACATCTTTGTGCCACTGGAGGCCCTCTGCGATCTGCTCCCTGCTTACTCCTTCCCCTGCACTCCCGCCCCTTCGCCGCATAGCACCCTGCCTGTGTGGCGCATTGTCACACCTCCGTTCTCATTTCTGCTGGGCCCTCTCCCTGGAATGCTGTCTATTCACCTGACCCTATAGGGTCCTCATCAATAGCTACCACCACTGCTACCACTTCCTGCCCCACTCCTGAATGGTTTAGGGGCCTCTCCTTGGCTCCCACAAACGCTTTTATTCTGTCTCCATCATTACATTTATACAACATCCATCTTACCTGCCAGATCCATCCATCTTTCCTGCCAGTGCAGAAAATTGCATGGGTCATTCACCTATTAGTTATTGAACAGCCTCGTCTCCCTTGTGCCCAACTCACAGTCTGGCACTGGACAGGTTCCTAAGGTGCCTTCTAAATAGGAGAGCCATGGTGACCCTCCTCAGCCCCACCTTTGGCCCTGACCCTCCCTAGGCTCTCACCTGCTGCACTGTGGAGGTGAGGACCCTAGATGACCGTCTGCTCAACATCCCCATCAATGACATCATCCAGTGAGTCCATCTGCCTTGGGCCCCAGTAGCCAAGAGAAGGGCTAGCCTGGGATTTAGGTGGTAGTGTGACAGGTCTGCCCAGTAGAGTTGTACAGGCTGCCCCCAGCAGAAGGGTTCCCTGCTGAGGGGATAGAGAGGACCAAAACTGAACCCACACTGGCCAAGCTGTGGGCTGCAATCACCTGGCAAAAGGAACATCTTTTTCTAATCCACACAAAGCCACTGCAGAGGCTAGAGGCCCCCATTGTTGGGCAACCCTGTAGCCTCCATGCCCTGCAAACTTCTCATTAGAGTTCTGAGTTGCATATCCTAAGTCCTTTTCCAAGAAAGGCCCTCTGCCCGTGAGGAGGTTTGCCTGGCAGCCCAGCACCCTCGCCCTCACCCCAGGGTTTGCTCACCTTTACTTCCCGTTTCCCATGTCTTAAACAAAGTTTCTGGAATCCTCCATCAGAGACTCAGTGTAAACAGGTTTTCAGGGAGCTCCTTTCCCAACCAGTTCTGGCTAAGAACCACTCCAGGTGAAGACTGCAGTGACTGTCCCCTTCCTGGGGTTATGTGAGTAGGGGTTATATGACAGGGACCTGCTGAGGTGCTGCTCTGGGATGCCCTCTATGCTCCTTTCTTTCATCCTATTTCAGCCCCAAATACTTCAAGAAGGTGCCAGGGGAGGGGAGGCCATTGCCGGAGGACCCCACTAAGAAAGGGGATCTCTTCATCTTCTTCGACATCCAGTTCCCCACCCGCCTCACACCCCAGAAGAAGCAGATGCTGCGCCAGGCATTGCTGACATGACTGTGGTGGGCTGGAGCAGGGGTGAGAGGAGGCTAGCCGGGCCTCACCCCACCCCTACCCGCCACAGCCTCAGGGTGTGCAGGGGAGCCTGCTGCACAGATATGATACAAGGGTGGGATGGCGCAGGGCTTAAACTGACATAATAAAGATCTATTTCCTGTCCTCCAGCTACACCCACGAGAGTACATTGGAGAGGAGCTTCATATTAGCCCTTCTTGTGGGGCACAGGGAAGAAAGAGGCCTAAGGAGCTGAGTGCCTGAGTCCCTGTCCTGGCTTTGTGGGAAAGGGCAGGTAAGGGTTCAGATCCTCTGTGCTTCCACTTTGATAGAGTGGGGCAGGGCTGTGTGGCCTCTGAGGGTCTCTAGCTCTGCTCTGGCTTTTCATGACAGAAGAGACAATCTCTGGAGCATGATATGGTCACGTTAGAGACAGGAAAACTAAAGCACAAAAGAAAACATTCATTGCAGGTCACTCAGGCCTCAGTGGCAAAGCTGTCATCAGAACCTTGAAGGTGGCTGGGTGCGGTGGCTCATGCCTGGACTTTGGGAGGCCAAGGTGGGCGGATCACTTGAGGTCAGGAGTTCGAGACCAGCATGGCCAACATAGTGAAACCTCGTCTCTACTAAATACAAAAATTAGCCAGGTGTGATGGTGGGCACCTGTAATCCCAGCTACTCCAAAGGTTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGTTACAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGGGCGAAAGTGAAATTCCATCTCAAAAAAACTAGAAAGGCCGGGTGTGGTGGCTTATGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACTAGCCTGGCCAACATGGTGAAAACCCGTTTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGAGGGCCTGTAATCCCAGCTACTCGGCAGGCTGAGGCAGGCGAATCACTTGAATCCAGGAGGTGGAGGTTGCAGTGAGCCGAGACTGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAACAAAAAACAAAAAAAACCCCCAAAAACCTTGAAGGTCACTTCCCACAGACTCGCCCTGCGTAGAGAAGCAGCATAAAGAACACATGTGCACTGGAAACAGCTTTGGTTCTACCTCTCTGGCCTCAATCCCCTGGTCTGTGATAGGGTCCTGGGCAGGGTGATCTGGGAGGCAGGAAACCTGAGTTCTGACCCCAGCCCTGCCACTTTCTCCTGGGACCAGTCACCACACCTGTCTTGTCAGTAAAGCAGAGCCCATAACCCCCCTCACGGGCATGTTGTGAGGACAGAGAACATTGATGTGAAAGTGCTTGGTGAACTCACTGCTTAGATTCAGGAAGGGGTAACAGCACTGCTGCCCTCAAGGCCTGGAGTTCCAGCATCCAGGTCCAACTGGGCCTGCGTAGACCACACTTGCCTCCTCATAGTCAACACGTGTGTTATGCTCCCCTTCCATGCCAGGGAGGTTCCCTTCTAGAGTCTGAGCTTGGGTGAGGATAGATCCAGGCTTACGGGGAGTAGGTAGCCAATTCCATGGAATGCCTTCAGAGGTGCCAGAAAAGGCCCCATGTTCTCCAGATTGCTTGGGACTCCACCATTCAAATCACATCAGCTTAAGGTTTTTTTTTTAAAACGGGGGTTCAGTAGCACTTTTGTCATTAAAAAAATCACCATGGGCTGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACAAGGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACTTTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCATGCACTTGTAATCCCAGCTACTTGG
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Task1_train_16289
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This genomic variant is located on Chromosome 11, within the UCP3 (uncoupling protein 3) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Inherited obesity
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GCTTAAAGCTATATAGTGAGAGGTGGTGCTGGGACTGGAACCCAAGTCTCCAGCCTCCCAGCCCAGGGGTCTTTCCTGCTTGTCACCACAATGTACCTGGCACTTTTTACTAGGCACTGCTTCTCTCTCTGCTCCTTCTAAAACCCAGTTGCCTCTGGGTGGTGCCCACTCCACGGAGTTCTGGGTTCCCTCCCTGCTGAGGGAGAGCTGCCTGCCTGGAGCCCAGGGCCTCACCAGTGAGCAGGTGGTAGTCCAGCAGCTTCTCCTTGAGGATGTCGTAGGTCACCACCTCAGCACAGTTGACGATAGCATTCCTCATGATGTTGGGCAAAGTTCCTGTTAGGAAGGCGGTGGGGAGGGATGTGAAATGGGTGGGGAGGGAGGAATGGGAAATGGGAGAAATGGATGCCCTGGCTGCAAGGCCACAGGCCCCAGTTTTGGGGCCATAGTGCCCCATTCCAATGGTCTCAGCCAGAGGATCCCACCCCAGCTGAGCAGATTCCACATTTTCCTTTCTAGGGTTAACAACTCTCAGATTATCCATGTTTTCCTCAGAGACAGAGAACAGAGAGGCCCACTTGTGTTCATTTGGCCACATTTGGAGGGTGATCTGCAATAGCTGTCAAAATTAAAATATGCTTCCTGGAGACCCAGCTGCAGCCAGAAAAGAAAGTCATTCAGCGAGAGGCTGAGCTCTTGGAACAGTGACAGAATGTGGTGCCAGCAGGGCCCTAGGAAACTGTCAGGATCAAACCCCTGGTTTCACAGGTAAGGGGACAAGCTCTGAAGGGTGCCCAACAAGTGAGTGAAGAGCCCCAACTTAAGAGGTGTCCTGCCCTTAAACTTCACTGGGTCAGTTTCTTCTGCAAACGTTCCTGCAACCTCTGGTTCACATGCGGAGAGAGTCCTGCATTCATCGCAGTGGCTGCCATGTGGACACATAGGGAGCCCTCCAGCTTTGCTCCCAAGGAAGCGCTTCCTCGTTGCATCTCCCTGCGCCCACTCCTCACAGCTGTGCTTTTCTGATGCTCCTCTTTTTCCTCCGGACCCTGCTTGAGGGCCCCTCCCCTTCCGTCTCCACACACCTAGAGCCTGTTCAGTCTTCCAGGCCCAGCTTAGGTGTCACCTTCTCTGCAGAGCCCGCCTCTGGAGCTCCACCTCTGGGGCAACCCCTACCACATCCTGCCTGTGGTGTAGCTGCATCTTATCTCCTCTGCTGTCCTCATGCCCTGGGCGTGTGAAGGTGTCTTAAGTTCATTTCTGGCTCCCTCACATCAACCTGCACATGGCAAAGGGCTGGTAAAATGAACTGAGTTTGAGGGGCTGTGGCAGGTCAGTGAAGTATCTTTGGTTGTGATGTTCTTTCAGAATCACTGGAACACGCCATGCTGGGAGTCCCCTCCTTACTGGGGTCCCTGCCCCAGCCTGAGGGGAGGGAAAGCTCTGCCTAAGACCGCCTGCGTCCAGAGTCCAGACCTACCTTTCCACAGGCCCCTGACTCCTTCCTCCCTGGCGATGGTTCTGTAGGCGTCCATAGTCCCGCTGTATTTTCTGTCGCTCCTGGATGGCCCGAGGTGTATGCTGGCCTGAAATCGGACCTTCACCACATCTGTGGGCTGGGCACAGGTCACCGCCATGGCTCCTGTGGTGCAGCCGGCCAAAATCCGGGTAGTGAGGCTGGAGTCTGGGAGGGGCAGAGAGAGTGGGCCAGTGTCCCCTACTAAGCAGCATTCTGGGACATGCTGTTCTCTGCGGGGCTGCCCCTGCAGCTTCCTTGATGTCCACTCAGAGCCTCCTCATAAGCGTCCGGTACCAGCTTCCCCCCGCCCCTGGCTCTGCCTCTGAGTCTAGACTTCCCTGGTCTCTTGACCCACACACTTTCAGCCACCCCTTTGGTGTTCAGGGACCTGGTCACTCACTGTCCGCGCCTTTGGGGGTGTACACCTGCTTGACGGAGTCATAGAGGCCGATGCGGATGGAGGCGAAGCTCATCTGGCGCTGCAGGCCGGCCACCAGCCCATTGTAGGGGCTGCAGGGACCCTCAGTCCGCACCATGGTCAGGATGGTGCCCAGCACGCCACGGTACTGCACGAGCCGGGCCGTCTGGACCGCCTGGTTCTCCCCCTGGATCTGAGGGACAATAGCAGGGGGTGAGGACTCAGATGGGAAGGCAAGAAGGGGCTGCGTGCACAGGAACCCTGCTGGGGCTGGGCCTGCCTGGGCTGGGCCTGAGAACAACCATGCTGGTCACAGTAGAAATCACTGGTGTCTGCGCAGCATTTTACCATTCACAAAGCAGTATTATACACATGGCTTGGTGTTTGATCCTCAGAGTAAATCAGAGGGACAGATTGTTTTTCCCATTTTATAAGTGCTTCGTGGCTTGCCCAAGGTCACACAGTTAATTCCTTACTTTTACCTCACACTGCATGCTTTACAAAGTAGGGCCTAGCCCATAAAGGGCCCTGTCACATCATGCAAAGAATTTAGATTTTTTTGTCCTGGTGGATGGTGATGGGAGGAGGCAAGGAAGGGTCCTAAGCAGTGGAGTGAGAGTCTTTGTCAGGGTTCTGAGGAAGGGCATGTGGGCACACGTCATGGGGGATATGGGAGAGAACTAGCCCCTCCTTCCATGTGATCAATGACCCTTGGCCAAAGGGCACCTACCTGCAGGCGGACCTTGGCTGTGTCCAGTGGAAAGGTAACGAGGTCAGCAAAACAGGCTGCTGTGCCTGCCCCCAGGAACTTCACAGCCATGGTGGGAGGCACGTCTGAAGGCTTCAGTCCAACCATAGTCCTGGAAGGCTCTGCCCAGTCCCTTTAGGGCCGAGAGGAGGTCCAAGGAGAGAGGCTGCTCCACAGCCCTGGGCTTCAGTGCAGCGGTGGGGCTGCAGGAGACAGGCCAGAGAAGGCTGATGGAGTGATGTCTGGCCTGGCTCCCAGGAACTCTTCCTTACCCAGGAGGGGCTTTAGAAAGGGAGAAGCCTGGGTGGTGCCATACTTAAGCTGCATGAATTTGGCCTATAAAAACAGGTCACGTTCCTATCCCTTGAATTTTGCAATCCTCCTCCTGACCCTCTCCCTCCCCTCCTTACCAGGGGTAGGCAGAGCTGATAGTGGTACCTGCACTGTATACATGAGGAAACCGAGGCTCAGGCATCTGTTCTCCCCAATATCAAACTGCCTCCTTTTTTTTTTTGAGACAGGGTCTCACTCTGTTACCTGGGCTGGAGTGCAGTGGTGCAATCCAGGCTCACTGCAGCCTTGACCTCTTGGACTCAAGTGACCCTCCCACCTTCAGCCTCCCGAGTAGCTGGGACTACAGGTGTGCATCACCATACCCAGCTAATTTTTTATTTTTTGTAGAGATGGGGGTCTCTCTATGTTGCCTATTCTGGTCTTGAACTCTTGGCCTCAGCGTGATCACTTGACAAGAGGGGCAGTTCTTAGCCACTCATGGAAAATGGAATGGATGGACACAGACTCAGGTCAAAAGCCCACCTTGGGGCTCTAGAACTTTCAGTAGTCAAGCTGCGGGAGGAGGGAAAGCCACAGTGGTGGGCACAGGTAGGAGGTGCCTTGAGGCCAGCACTCCCCAATCTTCTTCCCAATTCACTCCAGACTCTCCTAGACCCCTAGCAGCCGGCAGCCTTTTGCCACTGGCCAGTGGAGGAAGAAGTCAAAAGTGGAACCCTCATTACTGTAGCTCTGCTGGGGCTCCTGAGGGATGGGATGTTCTAGTCAGCATGGTCCATTAATGTTTGCTGGTTGCTTCTTGCACCAGATACCGTGCTGAGGGCTTTACAGACACTGACTGATTTGATCCCTTCATAAGGCTACAAGTAGTTGCTATTATTATTCTCATTTCGTAAACCAGGGACCTGAGGCTTCCAGGGCTTTTGCTAGTCATACAGCTGAAGTGCTGGAGCTGAGATTGGTGCCCACGTTTGTCTGACATCTGAAGCTGCGCCTGTTTCACTGCCCAGAGAGTCTCAGACTTCAGGGAGAGCCAAGGATCCCTTGAGCTGCTTGTTTACAGAGCAGATTCTCAGCTCTCAGCCCCAGAGATCCTGATTTAGGTCTGGGGTGGGGCCTA
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GCTTAAAGCTATATAGTGAGAGGTGGTGCTGGGACTGGAACCCAAGTCTCCAGCCTCCCAGCCCAGGGGTCTTTCCTGCTTGTCACCACAATGTACCTGGCACTTTTTACTAGGCACTGCTTCTCTCTCTGCTCCTTCTAAAACCCAGTTGCCTCTGGGTGGTGCCCACTCCACGGAGTTCTGGGTTCCCTCCCTGCTGAGGGAGAGCTGCCTGCCTGGAGCCCAGGGCCTCACCAGTGAGCAGGTGGTAGTCCAGCAGCTTCTCCTTGAGGATGTCGTAGGTCACCACCTCAGCACAGTTGACGATAGCATTCCTCATGATGTTGGGCAAAGTTCCTGTTAGGAAGGCGGTGGGGAGGGATGTGAAATGGGTGGGGAGGGAGGAATGGGAAATGGGAGAAATGGATGCCCTGGCTGCAAGGCCACAGGCCCCAGTTTTGGGGCCATAGTGCCCCATTCCAATGGTCTCAGCCAGAGGATCCCACCCCAGCTGAGCAGATTCCACATTTTCCTTTCTAGGGTTAACAACTCTCAGATTATCCATGTTTTCCTCAGAGACAGAGAACAGAGAGGCCCACTTGTGTTCATTTGGCCACATTTGGAGGGTGATCTGCAATAGCTGTCAAAATTAAAATATGCTTCCTGGAGACCCAGCTGCAGCCAGAAAAGAAAGTCATTCAGCGAGAGGCTGAGCTCTTGGAACAGTGACAGAATGTGGTGCCAGCAGGGCCCTAGGAAACTGTCAGGATCAAACCCCTGGTTTCACAGGTAAGGGGACAAGCTCTGAAGGGTGCCCAACAAGTGAGTGAAGAGCCCCAACTTAAGAGGTGTCCTGCCCTTAAACTTCACTGGGTCAGTTTCTTCTGCAAACGTTCCTGCAACCTCTGGTTCACATGCGGAGAGAGTCCTGCATTCATCGCAGTGGCTGCCATGTGGACACATAGGGAGCCCTCCAGCTTTGCTCCCAAGGAAGCGCTTCCTCGTTGCATCTCCCTGCGCCCACTCCTCACAGCTGTGCTTTTCTGATGCTCCTCTTTTTCCTCCGGACCCTGCTTGAGGGCCCCTCCCCTTCCGTCTCCACACACCTAGAGCCTGTTCAGTCTTCCAGGCCCAGCTTAGGTGTCACCTTCTCTGCAGAGCCCGCCTCTGGAGCTCCACCTCTGGGGCAACCCCTACCACATCCTGCCTGTGGTGTAGCTGCATCTTATCTCCTCTGCTGTCCTCATGCCCTGGGCGTGTGAAGGTGTCTTAAGTTCATTTCTGGCTCCCTCACATCAACCTGCACATGGCAAAGGGCTGGTAAAATGAACTGAGTTTGAGGGGCTGTGGCAGGTCAGTGAAGTATCTTTGGTTGTGATGTTCTTTCAGAATCACTGGAACACGCCATGCTGGGAGTCCCCTCCTTACTGGGGTCCCTGCCCCAGCCTGAGGGGAGGGAAAGCTCTGCCTAAGACCGCCTGCGTCCAGAGTCCAGACCTACCTTTCCACAGGCCCCTGACTCCTTCCTCCCTGGCGATGGTTCTGTAGGCGTCCATAGTCCCGCTGTATTTTCTGTCGCTCCTGGATGGCCCGAGGTGTATGCTGGCCTGAAATCGGACCTTCACCACATCTGTGGGCTGGGCACAGGTCACCGCCATGGCTCCTGTGGTGCAGCCGGCCAAAATCCGGGTAGTGAGGCTGGAGTCTGGGAGGGGCAGAGAGAGTGGGCCAGTGTCCCCTACTAAGCAGCATTCTGGGACATGCTGTTCTCTGCGGGGCTGCCCCTGCAGCTTCCTTGATGTCCACTCAGAGCCTCCTCATAAGCGTCCGGTACCAGCTTCCCCCCGCCCCTGGCTCTGCCTCTGAGTCTAGACTTCCCTGGTCTCTTGACCCACACACTTTCAGCCACCCCTTTGGTGTTCAGGGACCTGGTCACTCACTGTCCGCGCCTTTGGGGGTGTACACCTGCTTGACGGAGTCATAGAGGCCGATGCGGATGGAGGCGAAGCTCATCTGGCGCTGCAGGCCGGCCACCAGCCCATTGTAGGGGCTGCAGGGACCCTCAGTCCACACCATGGTCAGGATGGTGCCCAGCACGCCACGGTACTGCACGAGCCGGGCCGTCTGGACCGCCTGGTTCTCCCCCTGGATCTGAGGGACAATAGCAGGGGGTGAGGACTCAGATGGGAAGGCAAGAAGGGGCTGCGTGCACAGGAACCCTGCTGGGGCTGGGCCTGCCTGGGCTGGGCCTGAGAACAACCATGCTGGTCACAGTAGAAATCACTGGTGTCTGCGCAGCATTTTACCATTCACAAAGCAGTATTATACACATGGCTTGGTGTTTGATCCTCAGAGTAAATCAGAGGGACAGATTGTTTTTCCCATTTTATAAGTGCTTCGTGGCTTGCCCAAGGTCACACAGTTAATTCCTTACTTTTACCTCACACTGCATGCTTTACAAAGTAGGGCCTAGCCCATAAAGGGCCCTGTCACATCATGCAAAGAATTTAGATTTTTTTGTCCTGGTGGATGGTGATGGGAGGAGGCAAGGAAGGGTCCTAAGCAGTGGAGTGAGAGTCTTTGTCAGGGTTCTGAGGAAGGGCATGTGGGCACACGTCATGGGGGATATGGGAGAGAACTAGCCCCTCCTTCCATGTGATCAATGACCCTTGGCCAAAGGGCACCTACCTGCAGGCGGACCTTGGCTGTGTCCAGTGGAAAGGTAACGAGGTCAGCAAAACAGGCTGCTGTGCCTGCCCCCAGGAACTTCACAGCCATGGTGGGAGGCACGTCTGAAGGCTTCAGTCCAACCATAGTCCTGGAAGGCTCTGCCCAGTCCCTTTAGGGCCGAGAGGAGGTCCAAGGAGAGAGGCTGCTCCACAGCCCTGGGCTTCAGTGCAGCGGTGGGGCTGCAGGAGACAGGCCAGAGAAGGCTGATGGAGTGATGTCTGGCCTGGCTCCCAGGAACTCTTCCTTACCCAGGAGGGGCTTTAGAAAGGGAGAAGCCTGGGTGGTGCCATACTTAAGCTGCATGAATTTGGCCTATAAAAACAGGTCACGTTCCTATCCCTTGAATTTTGCAATCCTCCTCCTGACCCTCTCCCTCCCCTCCTTACCAGGGGTAGGCAGAGCTGATAGTGGTACCTGCACTGTATACATGAGGAAACCGAGGCTCAGGCATCTGTTCTCCCCAATATCAAACTGCCTCCTTTTTTTTTTTGAGACAGGGTCTCACTCTGTTACCTGGGCTGGAGTGCAGTGGTGCAATCCAGGCTCACTGCAGCCTTGACCTCTTGGACTCAAGTGACCCTCCCACCTTCAGCCTCCCGAGTAGCTGGGACTACAGGTGTGCATCACCATACCCAGCTAATTTTTTATTTTTTGTAGAGATGGGGGTCTCTCTATGTTGCCTATTCTGGTCTTGAACTCTTGGCCTCAGCGTGATCACTTGACAAGAGGGGCAGTTCTTAGCCACTCATGGAAAATGGAATGGATGGACACAGACTCAGGTCAAAAGCCCACCTTGGGGCTCTAGAACTTTCAGTAGTCAAGCTGCGGGAGGAGGGAAAGCCACAGTGGTGGGCACAGGTAGGAGGTGCCTTGAGGCCAGCACTCCCCAATCTTCTTCCCAATTCACTCCAGACTCTCCTAGACCCCTAGCAGCCGGCAGCCTTTTGCCACTGGCCAGTGGAGGAAGAAGTCAAAAGTGGAACCCTCATTACTGTAGCTCTGCTGGGGCTCCTGAGGGATGGGATGTTCTAGTCAGCATGGTCCATTAATGTTTGCTGGTTGCTTCTTGCACCAGATACCGTGCTGAGGGCTTTACAGACACTGACTGATTTGATCCCTTCATAAGGCTACAAGTAGTTGCTATTATTATTCTCATTTCGTAAACCAGGGACCTGAGGCTTCCAGGGCTTTTGCTAGTCATACAGCTGAAGTGCTGGAGCTGAGATTGGTGCCCACGTTTGTCTGACATCTGAAGCTGCGCCTGTTTCACTGCCCAGAGAGTCTCAGACTTCAGGGAGAGCCAAGGATCCCTTGAGCTGCTTGTTTACAGAGCAGATTCTCAGCTCTCAGCCCCAGAGATCCTGATTTAGGTCTGGGGTGGGGCCTA
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Task1_train_16290
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A variant has been detected on Chromosome 11 in C2CD3 (C2 domain containing 3 centriole elongation regulator). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Orofaciodigital syndrome type 14
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AGTATTTTCCTGGAAATCTTCCAATGTCTGTAACATTGAGTGGATTTATATTTTATAATATAAATCAAATATAATAATTTATATATTTGTTATATATAAATTATATTATTAAATTATATTTATAAAATAAATATAAATGTTCCTCTGGTGGTGGGAAGAACAGGTTACAAGAAATGAGTTTATAAGTAGGAGGCCAGTTAGGAGGCTACCACAGTCATTTAGGCAAGATATGAAAAGGGCCTGAACTAAATAAGGCAGTAAGGGACGCACAAAAAAGGTGATTGATATGTTTAATACATAATAGGAGGTAAAATAAATAAAACTTTCACTTTCAATGTAAGTAGTGATTAGAAATATGAGATACAATGGGTCATAAGATCCTAATAACAGACTTCAGTAAAAACTGGACAAGAGTCACTGTCAAATCCAAATAACATAAAACAGGGCTGAAGAGGCTGCTTAGCTTCCTTACAATAATTCAACCTAGGCTGGTTAGGAGTAGGATGCTTTATGATTGTGCACTTCCTTCCTAGGCATAGGACTGGGGTCTCCACACTGTACCTGCACCAGATTTCAAACTGGACTCCACCTCCAGGCACGAGGCCCTGTGCAGAGAAAGCACTTAGTAGGAGCCTTTGCACTGGAACCTCAGCTGGCAACAGGAGAGAGTGATGGTGTTCACTATTAAAGATGGGATCTGGAACACAGAGTGTGGTTGCAGTTCTGAAGGGCTTCAGAGTAATTCCTTTGGAAAAGAAAAGCATTTCAGAATAATCCAACATATGACTTAGTGTTTTCTTCTTCTTTCATGTTCTTCCAGTGAATATTACTTAGTAATTCCCTAGTAGTTATGGTTCCCTAAGGTCCCATGATAATACAGAAGAAAAAGATACCTTGCTGGTGGACAATTCATATATTGCCATACAAGTGCCAACACTTGTTAGGTTTTTTTTTTTTTTTTTTAATTATAGCCACCTTAGCTAGTATGAAATGGTATCTTGGTAGTTTTGATTTGCATTTCCCAAATAAGTAATGATGCTCAGTATTTTTCCATGTGCTTATTAGCCATTTGTATATCTTTGGAGAAATGTCTATTCAGATCCTTTGCCCACTTTTTAATTGGTTTTTAAGAAATGATTGATTTGTAAGAGTTCTTTATATATTCTGTATATACAAATCTCTTATTTGAACCTCAAAATCAACACTGGCAGCACTCTGGCAATCATTCTGGAACATACACCGAATGGCAAAAAGTTCGAGTCACCTGGTCTGTTTGTTCCCAGGTGAGAAAAAGGTGAGCGAGTTTGACTTCTTGTTTCAGCTCTCCGAGACTACCAGAAGATGGAGACAGTAGGAGGCAGTGAGAAGCTTCCAATCTGGGTACAGTAGGATGGGGTTTGAATCCCAACCTTGGCACTTGTTAGTGGGGCAGCCCCAAGCAAGTCACTTAATGCTTGTGAATCTCATTTTTTCTTTCATAAAATAAAGAAAACAGAGTCTACCAGGGTAAGTTGTTTTAGGAGTTAAGATAATGATCTATGTGAGATATGTATATGTACATATTTCCCTTAGGAACAGTGGTTCAGTATTCCTTAATTCAGCGTTCATGGTGGCTTTACAGAACAGAACTACTGCGAGGAATAAGAATCAACTTATACTATGTGTATAGATAAGAGTGGGCATGTAAAGGATATAAAATAGGGCAAATGCAAATAATTGGTAGAACTAGGTAAAGAGTATACCAAAGTTCTTTGTACTATTTTTACAGGTTTTTGTAAATTTGAAATTGTATCAAAATAAAAAGCTACAAAAATAGTTAAAAAATAAAAAAAACTTGGCCTATCTCCTGTTTTACTGCCCAGTAAGACTAGAAATATTCAACAACACAAAATTCACTCAGAAAAAAAAAACTCTTAAGTATAATCTAATAAAAGAACCATATAAGAATAAGAAAGCCTAATATCTAAACCTACCATTTTCAAGGAACTCAGGTCCTTTCAGCACACTGGATTGAGAGTGTTGAACTGGAAAGTAGTACTGGACATAACAATCTGCTTCTCCCCAGACTGTTGCCTGAAGAGGGGCTAGCCCTTTAACCATCTCTATATGGATCTCAAAGCAGTGCTCCATCAGTCCATTTCCTCGGTCCTCTGCCTATTAAATGAAACAGAAACACTGGTGAGCTTTAAAGAGTAACTTGCTTAGAATATTTCTGCTTCTCTATGAAGTCTGAGTATAGATAAAGAGATAAGTATAATTAGTTGATACTAAAATAGACACTTAATTTTCATTGTAACTCTCACAACTACTCACTGTAAGTAGGCTAAACAGGATGTACTCTTGACTATGAGACTGGGTTAATATTAGGAAATCCATAAATGTAATTCAGTGCATTAATGGAACAATAAAAATGATTAACACAAATGCTGAAAAGGCATTTGATAAAATTCAACATTTGTTCCTGATAAAAGCTCTTAATATACTAAGAATAGAAGGCTGTTCCCTTCATAGGAAAAATAATAAATCGTAAATTTAGAATAAATTCTACATTTAGAACAGCAAAGGAATGAGAAGTGAAGTGGAAGAAGGGTAACACCAGACCAAACTAATATCATAATTTAAGAAAAAAAGGAAAACTAATAGCCTACAGCAGACAGTGGCATCCACGATTCCAGCAGGACTCCTCAGTCTGGCCATTCAGAATAGCAAACAGGTACTAATTACTATTTCAAATCAGTTGGGTATAACACCAGGACTGTCCAATAATGGTAAGGACTACTTTGGGAGGTAGTGAAGACACTGTTACTAAAGGTAATAACAACAAATAATCGTGTATTTATTGAGGATTTACTATGAACCAGGCACTATACCAAACAGCTCACCTTCATTAAGTGATTTAACATGCAGAGCTAGTAACAGTGGAACCAGGTTTAGACTCAACGTAGTCTGACTCCAGAGTCAGTGTTCTTTATCCCTATTCTATACAGCAGATCTTAGAGAATGAATTATTCAGGAAAATTCAAAGGGGGAATTCAGCATTCAGAAAAGAGTTGAGACTATATGATATACATGTGTTTAACATTTTAACTACTAATCCAAAAAATCTAGAACAGAGACTGTATTAGGTCTCTGCTTTGAAATCTGAAAGCATATTTTAGCAATACCTGCTCAAAAATTTTCCTTAGAAAAACAGGAAACTTGCAATTTGATTCCCTCGGGCAAAAAAAATTGAAAAAAAAAATCTCTCAGAGTCACAACAGCTACTTAATTTGGCCTTATAGTATCACAGCAATTTGATATTCAGTTCTGCAAATGGTGAATTGGATGAGAGGCATGAGTAGAGGAGGAAAAACAATTGTTTTTATAGATATCTAATCCCACAGGTAAATCTTTCAAGGATTTCCTCTGTGCATGTAGTGAGAAACATTTTCTAACCTTTACTATGGAATTTAACAAAATCTGAGTCTACACTGCAAGATGACAGCCATACAACGCCTAAACAGACTTGGGGATATTAATGTGGCTTTTCTTTATTTGTGCTTTTATGTAATTTTCAACTTGAAAAATACGATTATCTATTGACAAACAATAATATCTAAGAAATAACTGGCCAGGTGTGGTGGTTCATGCTTGTAATCCCAGCACTCTAGGAGGTGGAGGTGGGTGGATCACTTGAGGTTAGGAGTTCGAGACCAGCCTGGCCTGGGCAATATGGTGAAATCCCATCTCTACTAAAAATATGTAAGTTACCAGGCCCAGTGGTGGGTGCCTGTAATCCCAGCTACCCGGGAGGCCAAGGCAGGAGAATCCCTTGAACCCAGTTGGTGGAGGTTGTAGTGAGCTGAGATGGCACCATTGCACTCCAGCCTGGGCAACAGAGCAAGACCTCACCTCGAAAAAAAAAAAAAAATCTAACAAATAACTAAGAAAAATGTGGAGTTCATAATATACAAATAAACCATAACTTGCTAAAAGTTATTTTCCTAATAGTTCTTTCCCTGCTAGAGACATTTAAATTTGTCATTTGGGTTCAGACTTAAGAATATAACATACTTAAATGGTATGGATACTGAGATTTGGCTGTACTAGTAAAGAC
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AGTATTTTCCTGGAAATCTTCCAATGTCTGTAACATTGAGTGGATTTATATTTTATAATATAAATCAAATATAATAATTTATATATTTGTTATATATAAATTATATTATTAAATTATATTTATAAAATAAATATAAATGTTCCTCTGGTGGTGGGAAGAACAGGTTACAAGAAATGAGTTTATAAGTAGGAGGCCAGTTAGGAGGCTACCACAGTCATTTAGGCAAGATATGAAAAGGGCCTGAACTAAATAAGGCAGTAAGGGACGCACAAAAAAGGTGATTGATATGTTTAATACATAATAGGAGGTAAAATAAATAAAACTTTCACTTTCAATGTAAGTAGTGATTAGAAATATGAGATACAATGGGTCATAAGATCCTAATAACAGACTTCAGTAAAAACTGGACAAGAGTCACTGTCAAATCCAAATAACATAAAACAGGGCTGAAGAGGCTGCTTAGCTTCCTTACAATAATTCAACCTAGGCTGGTTAGGAGTAGGATGCTTTATGATTGTGCACTTCCTTCCTAGGCATAGGACTGGGGTCTCCACACTGTACCTGCACCAGATTTCAAACTGGACTCCACCTCCAGGCACGAGGCCCTGTGCAGAGAAAGCACTTAGTAGGAGCCTTTGCACTGGAACCTCAGCTGGCAACAGGAGAGAGTGATGGTGTTCACTATTAAAGATGGGATCTGGAACACAGAGTGTGGTTGCAGTTCTGAAGGGCTTCAGAGTAATTCCTTTGGAAAAGAAAAGCATTTCAGAATAATCCAACATATGACTTAGTGTTTTCTTCTTCTTTCATGTTCTTCCAGTGAATATTACTTAGTAATTCCCTAGTAGTTATGGTTCCCTAAGGTCCCATGATAATACAGAAGAAAAAGATACCTTGCTGGTGGACAATTCATATATTGCCATACAAGTGCCAACACTTGTTAGGTTTTTTTTTTTTTTTTTTAATTATAGCCACCTTAGCTAGTATGAAATGGTATCTTGGTAGTTTTGATTTGCATTTCCCAAATAAGTAATGATGCTCAGTATTTTTCCATGTGCTTATTAGCCATTTGTATATCTTTGGAGAAATGTCTATTCAGATCCTTTGCCCACTTTTTAATTGGTTTTTAAGAAATGATTGATTTGTAAGAGTTCTTTATATATTCTGTATATACAAATCTCTTATTTGAACCTCAAAATCAACACTGGCAGCACTCTGGCAATCATTCTGGAACATACACCGAATGGCAAAAAGTTCGAGTCACCTGGTCTGTTTGTTCCCAGGTGAGAAAAAGGTGAGCGAGTTTGACTTCTTGTTTCAGCTCTCCGAGACTACCAGAAGATGGAGACAGTAGGAGGCAGTGAGAAGCTTCCAATCTGGGTACAGTAGGATGGGGTTTGAATCCCAACCTTGGCACTTGTTAGTGGGGCAGCCCCAAGCAAGTCACTTAATGCTTGTGAATCTCATTTTTTCTTTCATAAAATAAAGAAAACAGAGTCTACCAGGGTAAGTTGTTTTAGGAGTTAAGATAATGATCTATGTGAGATATGTATATGTACATATTTCCCTTAGGAACAGTGGTTCAGTATTCCTTAATTCAGCGTTCATGGTGGCTTTACAGAACAGAACTACTGCGAGGAATAAGAATCAACTTATACTATGTGTATAGATAAGAGTGGGCATGTAAAGGATATAAAATAGGGCAAATGCAAATAATTGGTAGAACTAGGTAAAGAGTATACCAAAGTTCTTTGTACTATTTTTACAGGTTTTTGTAAATTTGAAATTGTATCAAAATAAAAAGCTACAAAAATAGTTAAAAAATAAAAAAAACTTGGCCTATCTCCTGTTTTACTGCCCAGTAAGACTAGAAATATTCAACAACACAAAATTCACTCAGAAAAAAAAAACTCTTAAGTATAATCTAATAAAAGAACCATATAAGAATAAGAAAGCCTAATATCTAAACCTACCATTTTCAAGGAACTCAGGTCCTTTCAGCACACTGGATTGAGAGTGTTGAACTGGAAAGTAGTACTGGACATAACCATCTGCTTCTCCCCAGACTGTTGCCTGAAGAGGGGCTAGCCCTTTAACCATCTCTATATGGATCTCAAAGCAGTGCTCCATCAGTCCATTTCCTCGGTCCTCTGCCTATTAAATGAAACAGAAACACTGGTGAGCTTTAAAGAGTAACTTGCTTAGAATATTTCTGCTTCTCTATGAAGTCTGAGTATAGATAAAGAGATAAGTATAATTAGTTGATACTAAAATAGACACTTAATTTTCATTGTAACTCTCACAACTACTCACTGTAAGTAGGCTAAACAGGATGTACTCTTGACTATGAGACTGGGTTAATATTAGGAAATCCATAAATGTAATTCAGTGCATTAATGGAACAATAAAAATGATTAACACAAATGCTGAAAAGGCATTTGATAAAATTCAACATTTGTTCCTGATAAAAGCTCTTAATATACTAAGAATAGAAGGCTGTTCCCTTCATAGGAAAAATAATAAATCGTAAATTTAGAATAAATTCTACATTTAGAACAGCAAAGGAATGAGAAGTGAAGTGGAAGAAGGGTAACACCAGACCAAACTAATATCATAATTTAAGAAAAAAAGGAAAACTAATAGCCTACAGCAGACAGTGGCATCCACGATTCCAGCAGGACTCCTCAGTCTGGCCATTCAGAATAGCAAACAGGTACTAATTACTATTTCAAATCAGTTGGGTATAACACCAGGACTGTCCAATAATGGTAAGGACTACTTTGGGAGGTAGTGAAGACACTGTTACTAAAGGTAATAACAACAAATAATCGTGTATTTATTGAGGATTTACTATGAACCAGGCACTATACCAAACAGCTCACCTTCATTAAGTGATTTAACATGCAGAGCTAGTAACAGTGGAACCAGGTTTAGACTCAACGTAGTCTGACTCCAGAGTCAGTGTTCTTTATCCCTATTCTATACAGCAGATCTTAGAGAATGAATTATTCAGGAAAATTCAAAGGGGGAATTCAGCATTCAGAAAAGAGTTGAGACTATATGATATACATGTGTTTAACATTTTAACTACTAATCCAAAAAATCTAGAACAGAGACTGTATTAGGTCTCTGCTTTGAAATCTGAAAGCATATTTTAGCAATACCTGCTCAAAAATTTTCCTTAGAAAAACAGGAAACTTGCAATTTGATTCCCTCGGGCAAAAAAAATTGAAAAAAAAAATCTCTCAGAGTCACAACAGCTACTTAATTTGGCCTTATAGTATCACAGCAATTTGATATTCAGTTCTGCAAATGGTGAATTGGATGAGAGGCATGAGTAGAGGAGGAAAAACAATTGTTTTTATAGATATCTAATCCCACAGGTAAATCTTTCAAGGATTTCCTCTGTGCATGTAGTGAGAAACATTTTCTAACCTTTACTATGGAATTTAACAAAATCTGAGTCTACACTGCAAGATGACAGCCATACAACGCCTAAACAGACTTGGGGATATTAATGTGGCTTTTCTTTATTTGTGCTTTTATGTAATTTTCAACTTGAAAAATACGATTATCTATTGACAAACAATAATATCTAAGAAATAACTGGCCAGGTGTGGTGGTTCATGCTTGTAATCCCAGCACTCTAGGAGGTGGAGGTGGGTGGATCACTTGAGGTTAGGAGTTCGAGACCAGCCTGGCCTGGGCAATATGGTGAAATCCCATCTCTACTAAAAATATGTAAGTTACCAGGCCCAGTGGTGGGTGCCTGTAATCCCAGCTACCCGGGAGGCCAAGGCAGGAGAATCCCTTGAACCCAGTTGGTGGAGGTTGTAGTGAGCTGAGATGGCACCATTGCACTCCAGCCTGGGCAACAGAGCAAGACCTCACCTCGAAAAAAAAAAAAAAATCTAACAAATAACTAAGAAAAATGTGGAGTTCATAATATACAAATAAACCATAACTTGCTAAAAGTTATTTTCCTAATAGTTCTTTCCCTGCTAGAGACATTTAAATTTGTCATTTGGGTTCAGACTTAAGAATATAACATACTTAAATGGTATGGATACTGAGATTTGGCTGTACTAGTAAAGAC
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Task1_train_16291
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This alteration occurs within gene C2CD3 (C2 domain containing 3 centriole elongation regulator) located on Chromosome 11. Is it associated with a disease or is it a benign variant?
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Pathogenic; not provided
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TAACTAGAATTATGAAATTTGGGTGCTGGCACATTTGATGTTTTAACTCTTTCAATTTACTGGTGGGAAAATTAAGGCCCAAGAAGATGAAATGGCTTGCTCAAAGTCAAACAGCAAGAGCATAGAGTAGAAGCAGGATTCTGGCTTCTTAATAACATAAGATTAGCCCTTATTAACTTCCTAGAATATTCATATGATATTACTATATGTGTCAAGTAATCAGACATTTAATTATATACTGTCTGGCATTGCTCAATACTGTTTCATGTATGTCAGTTTTGTTTTCAACTAATCTTTAAGTTCCTTTTGGGCAGGGAATACATCTCAAATCTCTGTACACGCTGCCTGAGTCTTAATATTTTTATAAGACTTGTACCTACAATGTGTCAGCTACTAGACCGATCACTTTACAAACATTTTTTTCATTTAGTATTCACAATAATTCCTGACAGGTAAGTGCTATTTTTCCCAACTAACTAATAGGAAACTGGGGCCCTGAGATGCTAAGGAACCTCTCAGCATCACCTAACAATCTAGTCCTGAAGCCAGAGTTCAAACTCTAGACTGTCTAGATGTCAACCCGTTCAACCGGGTTGCTTCTTTGTGCAAATATCTAGAAAATGGAAGGGCAACTATATGATCCCATTTTACAGATGGGGAAACAGGAATCAGATATGGGAAGAGACTTTCCTAAAATCATGTAGTTGGTAACACCAATGTAAATGTTCGGATGCCAAGTCCAATGCACCAATATACCATAAGATGTTCAAATAAATGTCTGACCTGTTGATTACCATGTTAATAAATACCTTCTCTCTTATTGAATTTCTAATCACTCCTCATTTGTTATATTATATAAAAATACTACCTGAGGATTTAATTTTTAAGCTTACAGTACCAAGATTATTTATATCTTTTAATCGCACTTACTGCTTTTAACCTACTATTAATAACTAAACTTTTTTGTGAAGTTAGAGTTCGGGATCATTCTTATTAATTTTTTGGATTTTTTGTAAACCCCATGGTGCCTAAAACAATGTGTAGTATGTGCTAAACATATTTTTTGAATGACTGAATTACAGCATTTGTTCTTTACATGTTGATGTTTCAAAAATTTTTTCTCGAGAGAATGTAAGTTACTCAAGGACAAGTTAATCTTAACTCACCCCTGGCTCTCCAATATTCTGAGCCCAACCATGTTTACATGATAAATGCTCGAATTTTATTGACTTGAACTGAATTGACTTGATAAATAACCCCATCATCCAAAATGTATTTATGTGAAAGCTTGACCTGAATAAAGAAGTAACATAGTACACTCAGAATACTTTTCTTGTACAAAAATGAAGACATCTTGGCTTCTGGTTCCCTACAGAGGGATGCTTTCCATTTCTGAACATCTGTAATACTAACTCACTAAACCATTCATTTAGCATTTAGTATGTATTATCTTGTACTATTGGTAAATTTTACATCTATATCCTCTTTCCTTGAGTATAATGTAAACCCCAGAGTTGAGACTACAGTTATTACCTAAAAAAGCATGGTGTAGTGAAAAGAGCATGAGTTTTGGTGACAGACAGAAGTGGGTTCAAATCCTAATTCAGCCATTTATCAACTTTGTGACCTTAGAAAGTATTCATTTCATCTCTCCAACTTGTTTAATTGTCTATAAAACAGAGAAAATACCTATCTTTCAGGGTTATTGTAAGGATTAGAAGTAATACATTTCAAAACTGCTGGCACACAGTAACACTCAATAAATTTACAAAGAAAAATGTCTACTATAAAAACTCTTTGACTCTTCAATAATTAAGAATGCCCATATATGCTAGGTACACAACAACACTTATTGCTGACAATATAACCACATGCTTTGTATTACGTCTGCAGGTGCAATGATAAAACAATAACATACCTGTTAGATAAGAGGTAAACTGTTTTGGACCACAACGAATAGCGTAACGTGTAGTTGTTCTCACAGCTTTTGGTTCAGTCTGCAATGCATCCCTGGGACAAAAGAGGGTTCCATCTGATGTTTCTCCCCACCATCTCACTCGGACAAGTACACAAGTGGGAGGCTTTGCAATCTTCCATATGACTCTATTAACAGTAAGTTTTAGAAAACAGCGTAGCTGGCCTTCAACCAGAGGTGGCAGGCTTGTAGATGGAGAAATGTCACTTAAACCTGTAGAGGAATCCAAGAAAACTGAGTCAAAATTTAGACTAAATATAGAAAACATATAATATGCTTTTTGAATGAAAACAAACAGAACACTTTAGTCTTAAGTTCAGCAATTTATCACCACTTAGAAAGAAGGTTTATCCTACCCATTATTCTAATACATGAGAAGTAACTATCAAATCAGACCACCGAATAATCTATCTGGTCATGTAAGCCACTCTGATAACTAATTAGTATTTAAGGTTTGATTTGATTTACTCTAAGTTAAGAACATACCAACAAAGACACACTAATATAAACTTTTCTTTAGTTGAGTTACTATTTGAAAAATACAAATATCAGAAGTAGTTGACATTTTTCTAAGTATGGTTGAAATTTTTCTAAGTACAGTTGTTTTAATTATTGCAACATCTATGGTTTTTAAGATATGTAATCTTTATCTAACTCTCTTTTAAAAAAATCACTAACGATAAAACAGCAACAACTCCCTTCACTCACAAACGATTTAGACTATATCATACAACTCAGCATTTCAATGAAGAACGTCTTAAATTGTAACTTTTCTTTCCTGCCAAGATCACACAGTCAGTGAGGACACAGACTATCTAATCTTCAGATTCTGCCACTATTTTTAACACAGTGCTGGGTTCATATATTTATTGGCTTTAGTATTTATTGGGTTTCATAAAGACATTAAAGTGTAAACAAAGCAATTAATCATGACTTTCTAAAAAATTTTCCTTTAATGACCCTGATTGTCTTTCATTCATAGTACCTTTTCGGGAAAACTTAAAGGAGATTTAAGAAACCATTCCTATATTATTTATACCTTTTTTTTCCTTTGACTTTTCTTTGAGGAGTGGTTATGCCTCAAAGAAGAAAATATATGGAATGTATCAGATCAGGACTAATTATTTGGACTTCTAATGCAAACACCGCCTCTGCCCTCTATAGTGGAGAAAAGACCCACCATAATCCTTATGGATAGTTTCAACATAAAAATTATACACAGTTGTGTATACATTTCTACATATGGAAATGGTATAGCAAAAAGTGTATTCTGTTCTATGCTATGTTATATTATTTCTACTTTGACTTTCCGATTATCAACCAAACATGCTTAACTGTTTTGACACAGGGAGCACTAGTATGCTTCAGTCTCAGATCCTCCTATCTTTCCTGGCAGGAAAGTCAGTATCTCAAAACTGCCTTAGTAATCTTTAAACAGCTTGGATAAGAGTAATTCCCAGATTGTAGCTTCAGTCCTCAACCCAATGGCCTAATGTCCTATCACTGTTCCCAATACTTCTTTTCTCGCTAAACTGCCTACAATGCAAAAAGGCAGGGTCACCCACTGTCCTTTTTCCCTTCGAGGCAGTCTTGTAGAGATTCAATGTCAAGTTTCCTGATCTGCCCTGGGTTCCTAGGTTGACTGTTCTCACTGCAGCTAACATCCCCTACTCGGTGAGCTTGTGTCTCCTTGAGCTGCTAACCTGATGAGGACTCTCTGCTGCACACTCTTTCATGATCTCAGGTCCTTCAGGAGATCGTCATGCCCTTACCCCCACTCCAATCCTATCACACCTGTCATTCCCCACTCTTCCCGGCTCTATACTCTACAATTATTTTTCCCAACTCCTGCTCATAGTCAGCCCTTCATACTTCATTCATTCAACTAACATTTACCGAGTCCTGCTTTGTACTAATCCTTGGTCATTCAGTAATGTATAAAACGTGATTCTTGCCCACAATCACACAACAAATGATATAATCCCTTTGCCAATTTATGTTTCTTCCTGTCCCTGTGGACCTCGAAAGCTACACACACACATACATTTCACTTCGTTATCAAAACCAATCCCATCATTGTTTGTTCTTCTCCTCTACAGTCATCCTACCGGTAACCTTCAT
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TAACTAGAATTATGAAATTTGGGTGCTGGCACATTTGATGTTTTAACTCTTTCAATTTACTGGTGGGAAAATTAAGGCCCAAGAAGATGAAATGGCTTGCTCAAAGTCAAACAGCAAGAGCATAGAGTAGAAGCAGGATTCTGGCTTCTTAATAACATAAGATTAGCCCTTATTAACTTCCTAGAATATTCATATGATATTACTATATGTGTCAAGTAATCAGACATTTAATTATATACTGTCTGGCATTGCTCAATACTGTTTCATGTATGTCAGTTTTGTTTTCAACTAATCTTTAAGTTCCTTTTGGGCAGGGAATACATCTCAAATCTCTGTACACGCTGCCTGAGTCTTAATATTTTTATAAGACTTGTACCTACAATGTGTCAGCTACTAGACCGATCACTTTACAAACATTTTTTTCATTTAGTATTCACAATAATTCCTGACAGGTAAGTGCTATTTTTCCCAACTAACTAATAGGAAACTGGGGCCCTGAGATGCTAAGGAACCTCTCAGCATCACCTAACAATCTAGTCCTGAAGCCAGAGTTCAAACTCTAGACTGTCTAGATGTCAACCCGTTCAACCGGGTTGCTTCTTTGTGCAAATATCTAGAAAATGGAAGGGCAACTATATGATCCCATTTTACAGATGGGGAAACAGGAATCAGATATGGGAAGAGACTTTCCTAAAATCATGTAGTTGGTAACACCAATGTAAATGTTCGGATGCCAAGTCCAATGCACCAATATACCATAAGATGTTCAAATAAATGTCTGACCTGTTGATTACCATGTTAATAAATACCTTCTCTCTTATTGAATTTCTAATCACTCCTCATTTGTTATATTATATAAAAATACTACCTGAGGATTTAATTTTTAAGCTTACAGTACCAAGATTATTTATATCTTTTAATCGCACTTACTGCTTTTAACCTACTATTAATAACTAAACTTTTTTGTGAAGTTAGAGTTCGGGATCATTCTTATTAATTTTTTGGATTTTTTGTAAACCCCATGGTGCCTAAAACAATGTGTAGTATGTGCTAAACATATTTTTTGAATGACTGAATTACAGCATTTGTTCTTTACATGTTGATGTTTCAAAAATTTTTTCTCGAGAGAATGTAAGTTACTCAAGGACAAGTTAATCTTAACTCACCCCTGGCTCTCCAATATTCTGAGCCCAACCATGTTTACATGATAAATGCTCGAATTTTATTGACTTGAACTGAATTGACTTGATAAATAACCCCATCATCCAAAATGTATTTATGTGAAAGCTTGACCTGAATAAAGAAGTAACATAGTACACTCAGAATACTTTTCTTGTACAAAAATGAAGACATCTTGGCTTCTGGTTCCCTACAGAGGGATGCTTTCCATTTCTGAACATCTGTAATACTAACTCACTAAACCATTCATTTAGCATTTAGTATGTATTATCTTGTACTATTGGTAAATTTTACATCTATATCCTCTTTCCTTGAGTATAATGTAAACCCCAGAGTTGAGACTACAGTTATTACCTAAAAAAGCATGGTGTAGTGAAAAGAGCATGAGTTTTGGTGACAGACAGAAGTGGGTTCAAATCCTAATTCAGCCATTTATCAACTTTGTGACCTTAGAAAGTATTCATTTCATCTCTCCAACTTGTTTAATTGTCTATAAAACAGAGAAAATACCTATCTTTCAGGGTTATTGTAAGGATTAGAAGTAATACATTTCAAAACTGCTGGCACACAGTAACACTCAATAAATTTACAAAGAAAAATGTCTACTATAAAAACTCTTTGACTCTTCAATAATTAAGAATGCCCATATATGCTAGGTACACAACAACACTTATTGCTGACAATATAACCACATGCTTTGTATTACGTCTGCAGGTGCAATGATAAAACAATAACATACCTGTTAGATAAGAGGTAAACTGTTTTGGACCACAACGAATAGCGTAACGTGTAGTTGTTCTCACAGCTTTTGGTTCAGTCTGCAATGCATCCCTGGGACAAAAGAGGGTTCCATCTGATGTTTCTCCCCAACATCTCACTCGGACAAGTACACAAGTGGGAGGCTTTGCAATCTTCCATATGACTCTATTAACAGTAAGTTTTAGAAAACAGCGTAGCTGGCCTTCAACCAGAGGTGGCAGGCTTGTAGATGGAGAAATGTCACTTAAACCTGTAGAGGAATCCAAGAAAACTGAGTCAAAATTTAGACTAAATATAGAAAACATATAATATGCTTTTTGAATGAAAACAAACAGAACACTTTAGTCTTAAGTTCAGCAATTTATCACCACTTAGAAAGAAGGTTTATCCTACCCATTATTCTAATACATGAGAAGTAACTATCAAATCAGACCACCGAATAATCTATCTGGTCATGTAAGCCACTCTGATAACTAATTAGTATTTAAGGTTTGATTTGATTTACTCTAAGTTAAGAACATACCAACAAAGACACACTAATATAAACTTTTCTTTAGTTGAGTTACTATTTGAAAAATACAAATATCAGAAGTAGTTGACATTTTTCTAAGTATGGTTGAAATTTTTCTAAGTACAGTTGTTTTAATTATTGCAACATCTATGGTTTTTAAGATATGTAATCTTTATCTAACTCTCTTTTAAAAAAATCACTAACGATAAAACAGCAACAACTCCCTTCACTCACAAACGATTTAGACTATATCATACAACTCAGCATTTCAATGAAGAACGTCTTAAATTGTAACTTTTCTTTCCTGCCAAGATCACACAGTCAGTGAGGACACAGACTATCTAATCTTCAGATTCTGCCACTATTTTTAACACAGTGCTGGGTTCATATATTTATTGGCTTTAGTATTTATTGGGTTTCATAAAGACATTAAAGTGTAAACAAAGCAATTAATCATGACTTTCTAAAAAATTTTCCTTTAATGACCCTGATTGTCTTTCATTCATAGTACCTTTTCGGGAAAACTTAAAGGAGATTTAAGAAACCATTCCTATATTATTTATACCTTTTTTTTCCTTTGACTTTTCTTTGAGGAGTGGTTATGCCTCAAAGAAGAAAATATATGGAATGTATCAGATCAGGACTAATTATTTGGACTTCTAATGCAAACACCGCCTCTGCCCTCTATAGTGGAGAAAAGACCCACCATAATCCTTATGGATAGTTTCAACATAAAAATTATACACAGTTGTGTATACATTTCTACATATGGAAATGGTATAGCAAAAAGTGTATTCTGTTCTATGCTATGTTATATTATTTCTACTTTGACTTTCCGATTATCAACCAAACATGCTTAACTGTTTTGACACAGGGAGCACTAGTATGCTTCAGTCTCAGATCCTCCTATCTTTCCTGGCAGGAAAGTCAGTATCTCAAAACTGCCTTAGTAATCTTTAAACAGCTTGGATAAGAGTAATTCCCAGATTGTAGCTTCAGTCCTCAACCCAATGGCCTAATGTCCTATCACTGTTCCCAATACTTCTTTTCTCGCTAAACTGCCTACAATGCAAAAAGGCAGGGTCACCCACTGTCCTTTTTCCCTTCGAGGCAGTCTTGTAGAGATTCAATGTCAAGTTTCCTGATCTGCCCTGGGTTCCTAGGTTGACTGTTCTCACTGCAGCTAACATCCCCTACTCGGTGAGCTTGTGTCTCCTTGAGCTGCTAACCTGATGAGGACTCTCTGCTGCACACTCTTTCATGATCTCAGGTCCTTCAGGAGATCGTCATGCCCTTACCCCCACTCCAATCCTATCACACCTGTCATTCCCCACTCTTCCCGGCTCTATACTCTACAATTATTTTTCCCAACTCCTGCTCATAGTCAGCCCTTCATACTTCATTCATTCAACTAACATTTACCGAGTCCTGCTTTGTACTAATCCTTGGTCATTCAGTAATGTATAAAACGTGATTCTTGCCCACAATCACACAACAAATGATATAATCCCTTTGCCAATTTATGTTTCTTCCTGTCCCTGTGGACCTCGAAAGCTACACACACACATACATTTCACTTCGTTATCAAAACCAATCCCATCATTGTTTGTTCTTCTCCTCTACAGTCATCCTACCGGTAACCTTCAT
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Task1_train_16292
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With a mutation on Chromosome 11 in gene SERPINH1 (serpin family H member 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Osteogenesis imperfecta type 10
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GTAGTGCCCATTTTACTCTTATAAGTGTCCTTGTTTGTGCAATAAATTATATGGTTGCTCTGCCTTTGAGGCTCCAGTTCTGGCAGGGAAGGAGCCAGAGCTGGGAGGGAGGTGTCTTGGGGTTTATTCTAGGCCCCAAGATATCCCCTTCATTTTAGGGTGAGACTCAGATCTCCCCGCTCCTTCCAGACATTTTTAGATCTCTGGGCCTTCCCTCCTCTCCCCACCTCCCTCCCCTTGGACCCTTTGCTTATCTTATACTGCACCTTCAAGGCTCCGAGGAGGGAGGCAGTCCCGGGAGATGGGGAGCCTGTCCAGGTTTTTGGGATGGCAGCAGTAGAATCTTCCCAGAAATACAGTGGTCCCCAGGCAGCCAGAGTCCTGAGGGTCTTCCACCAGGATTTCAAATGTTCGGTCTTCTTCAAGGATGACTACAAGTTGGGATCTACCAGAGCAGTGGGATCGCAGCCTCCACCAGGATTCCTTCTATCCTTCCCTTTGCCCTGTCATCTCTCCTGTGCTGTTGCATGATGTAGAGGAGGATAATGGCCCGAAGGGAGAGAGGGAGTGTGGAAGTATCCCAGGAACAGAGACTGTCCAAATTGGAGGCCCCAGAGAGGGAACTGGGGCTTGTCCTTGGGGCCACTGCTACTGCTGGGGCTTGGGGAGGAGGCCTGAGGGCAACCCTGAAGCCGTGGAGCAGATGGCCTGTGTGGCAGTGGCTGTCAGATTGGAGGGCAGAATGGAATCTGATGTGGCTCCAGCTTCTTTGAAGGCTGAGTGCACATCTGGCCAGCTGCTGGTGATGGGGAAGGGGGTCACTGCTCTATTGAGCTATGTGTGACTCACCCTTTTCCCTAGTATCCTGTCCTTGTGCTATGTCAGGAAGCCTCCTCCCCAGCCCCACCGAGTCTTCAAAGGAGTTGGTCCCCCAGGAGCTTTTGTCCTGGGGATTTCCCATCCGCACTGGGAGCACTGTGGGTAGATGGGCATTCCAAGTTCCTGCCCAGACAGAAGCCATGGGCATGGAGACCTGGACCTTTCAGCTTGGAAAAGGGAGACTGAGGCTGAGTGGACACAGGACACACACACACACACTCTCAGGGTCACCCTTGGGGCAGCAAAGTGGAGCATCTTGGCTCCCCATTTAATGAGTGACCCAACTGGTGACTCATTAACATCCCAGAGCAGAATGAAAGGCATGGGGGCGGGGCAGCCCTCCGGCTCTGTCCCTCATCCCTTGCCCAGGCATCTGGGTTTCCTGCAGATTCTCAGCTCAGCTGCTGCTTTTTCTCACTGGAAAAGGGCTCCCAGGGCTATGTGAGATCAGGGCTGACCACTCTATAAACTGATGAGGACCCCAGGTCTGGCCAAGTGACCCTGTTTTACCTTCGTTCAGGAAGAGCTGAGGCCTACTGTGTACTAGGCACGGGAGATATAGTGGCAACCAGATTGGCTAGCTTTTCTGTCCTGGAGGCCACAGCCTACTTAGGAGCAGAAATAGTTATGAAATAAACACACAAATAAGTGGAAGTGTTGGCTGGCCGATGCAGGAAATCAATAAGGTGGTCTGGTGGTGACTTGCTGGGAATGCTTCTTTGAGTAGGGAGGTAACAGAGGCCTCTGAGAGGCTGGCAGCTCTGAGTCAAGTCTGGGATTCCTGGACTGTGGGCTCTCTTGCCCCCATCTCCAGGGGACTTGTGGCAGCCAGAGAGCTGAGGGTGGTTGTTGGGGAGGAAGGCCTTGGGCTTCAAGACCACCCTGTCTGTGCAATCCTCACAGGCCCACCGTGGTGCACGCAAACCACTTCCTGGCCATGCGCTCCCTCCTGCTTCTCAGCGCCTTCTGCCTCCTGGAGGCGGCCCTGGCCGCCGAGGTGAAGAAACCTGCAGCCGCAGCAGCTCCTGGCACTGCGGAGAAGTTGAGCCCCAAGGCGGCCACGCTTGCCGAGCGCAGCGCCGGCCTGGCCTTCAGCTTGTACCAGGCCATGGCCAAGGACCAGGCAGTGGAGAACATCCTGGTGTCACCCGTGGTGGTGGCCTCGTCGCTAGGGCTCGTGTCGCTGGGCGGCAAGGCGACCACGGCGTCGCAGGCCAAGGCAGTGCTGAGCGCCGAGCAGCTGCGCGACGAGGAGGTGCACGCCGGCCTGGGCGAGCTGCTGCGCTCACTCAGCAACTCCACGGCGCGCAACGTGACCTGGAAGCTGGGCAGCCGACTGTACGGACCCAGCTCAGTGAGCTTCGCTGATGACTTCGTGCGCAGCAGCAAGCAGCACTACAACTGCGAGCACTCCAAGATCAACTTCCGCGACAAGCGCAGCGCGCTGCAGTCCATCAACGAGTGGGCCGCGCAGACCACCGACGGCAAGCTGCCCGAGGTCACCAAGGACGTGGAGCGCACGGACGGCGCCCTGCTAGTCAACGCCATGTTCTTCAAGCGTGAGTCGGGGGCGCGTTCAGGGGTCCTCCTCCTCCTCCCAGGACCCCCTGCAAGAGTTAGGACGACATTCCGTGCGCTCCATTCTTCACTGCCTCTCATTTATGCTGTGACAACCCAGGGAGGCAGGACTGTCACTCAGCTTTTTGTACAGACTGGAAACTAGATTCAGAGACAGGTAGCAGCGTGTAAAGGAATGGTTCAGGGAGCGGAGGCCCCAGAGGGACTCCATGGAATGTATTCCGACCGAATTTCGTCAAAGTGCTCGTCCTTGTGTATCTTGGAATGAATAACATTTAATAATCCATTCTGCCTCAGTAGTGAGCTAGAGAAAGAACTCAAATCCTTTTTTTAAAATTATTTTTATTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAGCCTTGGCCTCCGGGCTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGGTTACAGGTGCCTACCACCACACCCAGCTAATTTTTGTATTTTTACTAGAGACGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCAAACTTTTGGTCTCAAGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGCGAGCCACCATGTGCGGCCAAGACCCAGAATCCTTAAAGCAACCTTGGGGGCAGGCAGTGTTACCTTCATTTCACAGTGAGGAAACTGAGGCTCAGCAAGGAGGAAGCAGAGCCAGGCCTCAGGCCCAGATGCCTCTGTCTTCAGTTGAAGATTAGATGTAGGGTTAATAAATATTTTTGAGTACCTCCATAGACAACACTATTCTCACAGTTTGCTGTGAGAATGAAGTAACCCTCGTTTTACAAATGAGGCCAAGCTAGGAGAGCTGAGGTCTCCCCGAGTCAGTGGCTGAGCTTGGATTGGAACACAGGTCTGGCTGTGAGCAAGGGCAGGGTTCAGGCCACTCTCAGACATTTTTTGTTGTTATTTTCTGGTCATGGAGACAGAACTTGCAGAGGAAAACGAAGGGTGGGCTGAGCACAGTAGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGTGGGTGGATCACATGAGCCCAGGAATTTGAGACCAGCCTGGGTAAGATGGCGAAACCCCATGTCTACAAAAAATTAGCCAGGCGTGGTGGCGCATGCTGGTAGTCCCAGCTACTCTGGAGGCTGAGGTGGGAGGATCGCTGGAGCCTGGGAATTCAAGACTGCAGTGTGTCATGATTGTACCACTGCACTCCAGCTGTAGGATGGAGTGGGACGGACCTTGTCTCAAAAAGAAAAAGATAAAAAAAAAATTAAGGGTGGTCATGGGGCACTCCCTGCCCAGGGCACAGCTGTCCCCCAGGTACCAGGGAGGGTAGAAAGCCCACCTCAGAGCATGTTTCCAAAATATCTGACAAGTGCTAGAGCCGGGGGTGGCCATAGAGGTGGCTGACCTGAGGGCGGAATTAATTCTCTATCATATGGGAGCAGCAGGCACTGACTGTAGGGAACCGCATCCTCAGATGGCATGTCCTGGGGCCAAGACCCCTTCCCAAAGCTGGGAACATAGACTCTGTGGGCTGGGTGCTCTATAGCTGGGCCCTGAAGAATGGAGCAAAGACCTGTG
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GTAGTGCCCATTTTACTCTTATAAGTGTCCTTGTTTGTGCAATAAATTATATGGTTGCTCTGCCTTTGAGGCTCCAGTTCTGGCAGGGAAGGAGCCAGAGCTGGGAGGGAGGTGTCTTGGGGTTTATTCTAGGCCCCAAGATATCCCCTTCATTTTAGGGTGAGACTCAGATCTCCCCGCTCCTTCCAGACATTTTTAGATCTCTGGGCCTTCCCTCCTCTCCCCACCTCCCTCCCCTTGGACCCTTTGCTTATCTTATACTGCACCTTCAAGGCTCCGAGGAGGGAGGCAGTCCCGGGAGATGGGGAGCCTGTCCAGGTTTTTGGGATGGCAGCAGTAGAATCTTCCCAGAAATACAGTGGTCCCCAGGCAGCCAGAGTCCTGAGGGTCTTCCACCAGGATTTCAAATGTTCGGTCTTCTTCAAGGATGACTACAAGTTGGGATCTACCAGAGCAGTGGGATCGCAGCCTCCACCAGGATTCCTTCTATCCTTCCCTTTGCCCTGTCATCTCTCCTGTGCTGTTGCATGATGTAGAGGAGGATAATGGCCCGAAGGGAGAGAGGGAGTGTGGAAGTATCCCAGGAACAGAGACTGTCCAAATTGGAGGCCCCAGAGAGGGAACTGGGGCTTGTCCTTGGGGCCACTGCTACTGCTGGGGCTTGGGGAGGAGGCCTGAGGGCAACCCTGAAGCCGTGGAGCAGATGGCCTGTGTGGCAGTGGCTGTCAGATTGGAGGGCAGAATGGAATCTGATGTGGCTCCAGCTTCTTTGAAGGCTGAGTGCACATCTGGCCAGCTGCTGGTGATGGGGAAGGGGGTCACTGCTCTATTGAGCTATGTGTGACTCACCCTTTTCCCTAGTATCCTGTCCTTGTGCTATGTCAGGAAGCCTCCTCCCCAGCCCCACCGAGTCTTCAAAGGAGTTGGTCCCCCAGGAGCTTTTGTCCTGGGGATTTCCCATCCGCACTGGGAGCACTGTGGGTAGATGGGCATTCCAAGTTCCTGCCCAGACAGAAGCCATGGGCATGGAGACCTGGACCTTTCAGCTTGGAAAAGGGAGACTGAGGCTGAGTGGACACAGGACACACACACACACACTCTCAGGGTCACCCTTGGGGCAGCAAAGTGGAGCATCTTGGCTCCCCATTTAATGAGTGACCCAACTGGTGACTCATTAACATCCCAGAGCAGAATGAAAGGCATGGGGGCGGGGCAGCCCTCCGGCTCTGTCCCTCATCCCTTGCCCAGGCATCTGGGTTTCCTGCAGATTCTCAGCTCAGCTGCTGCTTTTTCTCACTGGAAAAGGGCTCCCAGGGCTATGTGAGATCAGGGCTGACCACTCTATAAACTGATGAGGACCCCAGGTCTGGCCAAGTGACCCTGTTTTACCTTCGTTCAGGAAGAGCTGAGGCCTACTGTGTACTAGGCACGGGAGATATAGTGGCAACCAGATTGGCTAGCTTTTCTGTCCTGGAGGCCACAGCCTACTTAGGAGCAGAAATAGTTATGAAATAAACACACAAATAAGTGGAAGTGTTGGCTGGCCGATGCAGGAAATCAATAAGGTGGTCTGGTGGTGACTTGCTGGGAATGCTTCTTTGAGTAGGGAGGTAACAGAGGCCTCTGAGAGGCTGGCAGCTCTGAGTCAAGTCTGGGATTCCTGGACTGTGGGCTCTCTTGCCCCCATCTCCAGGGGACTTGTGGCAGCCAGAGAGCTGAGGGTGGTTGTTGGGGAGGAAGGCCTTGGGCTTCAAGACCACCCTGTCTGTGCAATCCTCACAGGCCCACCGTGGTGCACGCAAACCACTTCCTGGCCATGCGCTCCCTCCTGCTTCTCAGCGCCTTCTGCCTCCTGGAGGCGGCCCTGGCCGCCGAGGTGAAGAAACCTGCAGCCGCAGCAGCTCCTGGCACTGCGGAGAAGTTGAGCCCCAAGGCGGCCACGCTTGCCGAGCGCAGCGCCGGCCTGGCCTTCAGCTTGTACCAGGCCATGGCCAAGGACCAGGCAGTGGAGAACATCCTGGTGTCACCCGTGGTGGTGGCCTCGTCGCCAGGGCTCGTGTCGCTGGGCGGCAAGGCGACCACGGCGTCGCAGGCCAAGGCAGTGCTGAGCGCCGAGCAGCTGCGCGACGAGGAGGTGCACGCCGGCCTGGGCGAGCTGCTGCGCTCACTCAGCAACTCCACGGCGCGCAACGTGACCTGGAAGCTGGGCAGCCGACTGTACGGACCCAGCTCAGTGAGCTTCGCTGATGACTTCGTGCGCAGCAGCAAGCAGCACTACAACTGCGAGCACTCCAAGATCAACTTCCGCGACAAGCGCAGCGCGCTGCAGTCCATCAACGAGTGGGCCGCGCAGACCACCGACGGCAAGCTGCCCGAGGTCACCAAGGACGTGGAGCGCACGGACGGCGCCCTGCTAGTCAACGCCATGTTCTTCAAGCGTGAGTCGGGGGCGCGTTCAGGGGTCCTCCTCCTCCTCCCAGGACCCCCTGCAAGAGTTAGGACGACATTCCGTGCGCTCCATTCTTCACTGCCTCTCATTTATGCTGTGACAACCCAGGGAGGCAGGACTGTCACTCAGCTTTTTGTACAGACTGGAAACTAGATTCAGAGACAGGTAGCAGCGTGTAAAGGAATGGTTCAGGGAGCGGAGGCCCCAGAGGGACTCCATGGAATGTATTCCGACCGAATTTCGTCAAAGTGCTCGTCCTTGTGTATCTTGGAATGAATAACATTTAATAATCCATTCTGCCTCAGTAGTGAGCTAGAGAAAGAACTCAAATCCTTTTTTTAAAATTATTTTTATTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAGCCTTGGCCTCCGGGCTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGGTTACAGGTGCCTACCACCACACCCAGCTAATTTTTGTATTTTTACTAGAGACGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCAAACTTTTGGTCTCAAGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGCGAGCCACCATGTGCGGCCAAGACCCAGAATCCTTAAAGCAACCTTGGGGGCAGGCAGTGTTACCTTCATTTCACAGTGAGGAAACTGAGGCTCAGCAAGGAGGAAGCAGAGCCAGGCCTCAGGCCCAGATGCCTCTGTCTTCAGTTGAAGATTAGATGTAGGGTTAATAAATATTTTTGAGTACCTCCATAGACAACACTATTCTCACAGTTTGCTGTGAGAATGAAGTAACCCTCGTTTTACAAATGAGGCCAAGCTAGGAGAGCTGAGGTCTCCCCGAGTCAGTGGCTGAGCTTGGATTGGAACACAGGTCTGGCTGTGAGCAAGGGCAGGGTTCAGGCCACTCTCAGACATTTTTTGTTGTTATTTTCTGGTCATGGAGACAGAACTTGCAGAGGAAAACGAAGGGTGGGCTGAGCACAGTAGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGTGGGTGGATCACATGAGCCCAGGAATTTGAGACCAGCCTGGGTAAGATGGCGAAACCCCATGTCTACAAAAAATTAGCCAGGCGTGGTGGCGCATGCTGGTAGTCCCAGCTACTCTGGAGGCTGAGGTGGGAGGATCGCTGGAGCCTGGGAATTCAAGACTGCAGTGTGTCATGATTGTACCACTGCACTCCAGCTGTAGGATGGAGTGGGACGGACCTTGTCTCAAAAAGAAAAAGATAAAAAAAAAATTAAGGGTGGTCATGGGGCACTCCCTGCCCAGGGCACAGCTGTCCCCCAGGTACCAGGGAGGGTAGAAAGCCCACCTCAGAGCATGTTTCCAAAATATCTGACAAGTGCTAGAGCCGGGGGTGGCCATAGAGGTGGCTGACCTGAGGGCGGAATTAATTCTCTATCATATGGGAGCAGCAGGCACTGACTGTAGGGAACCGCATCCTCAGATGGCATGTCCTGGGGCCAAGACCCCTTCCCAAAGCTGGGAACATAGACTCTGTGGGCTGGGTGCTCTATAGCTGGGCCCTGAAGAATGGAGCAAAGACCTGTG
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Task1_train_16293
|
The gene CAPN5 (calpain 5) on Chromosome 11 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
|
Pathogenic; not provided
|
GGGAACCCTGGGGAAGAGTGACTCGCGCAGGCCGTTGCAGGGCAGGGATACGCCTAGGCCAGGAGGGAGGAGGGAGGAGGGGCAGTGGGGTCAGAGGCCAGCCTCGCCAGCTCTAGGTGAGCCACTCTCTGGTTCCTCCTGCTAGGCCCATTTGTCAATCTTGCTGAAAAAATGTGTGTGTAGGGGCAGGAGCAAGGAGAGAGAGAGATAGAAAACAAGAGAAAGGGGGAGAGAGGAAAAGGAAAGACAAAAACTCCCAACATCAAAAACCCAAGAAAACACATTGGCAGGTTCCACTTTCAATCCTAAGAAAGGAAAGCCAGCCCCCTGGTGGCCACTGAGTCTCCACCACCTGGATGCAGGTCGACCCAGTGGCCTTGGTTGTTTTTTGTTTTTTGAAAAAACACAGTTTCATTGTGGTAAAATAGACAAAACATAATGCTTCTCATTTTAACCATATGGAAACATACAATTCAGTGGCATTCATTATGATCACAGTGCTATGGGCCATCACCACTATCTATCCCCAGAACCTTCTCATCATTCCCAGCAGGAGGTCTATACCCATCCGACAGTAACTCCTTCCCCTCCCCCTGACCATTGTTGGCACTTTGGAAAAGAGTTGCTTTTTTTTTTTTGGACAGCTGATTTTTTAAGATTGAGCCACTAAGGCTTAGGGGAATTTAAGCCTTATATGTTGGCCCGAGTGTTAAGAACTGGGTTCCAGTGTTGGCTCCGCCGTGGCCTGCTGCGTGACTGTAACAGGTTGTTTGACCCCTCTGAGTTTCAAAAACCTCCCCTATGAGGTAAAGGATGCAGCCTGGCTGGGGAGCATGAGCTGGGAAGTCTTTCCACATTGCTTCCCAGACTGGCAGGCTGTTACCAGGCCCTGGATGGAGGCAACACAGCAGACGCACTGGTGGACTTCACGGGTGGTGTTTCTGAGCCCATCGACCTGACCGAGGGTGACTTTGCCAACGATGAGACTAAGAGGAACCAGCTCTTTGAGCGCATGTTAAAGGTGCACAGCCGGGGCGGCCTCATCAGTGCCTCCATCAAGGTGAGAACACGGCAGTCCCCAGAGGCGACCCCTCCCCTTCACCCTCGCTGACTGAGATGGGAGACAACTGTGACATCCCACGCTCAGGTCAGCTCCTACGTATTCAGACCCTCAGCCTCGTGGGGGAGGGGAGAAGTTGGAAGGTGCAACCCCCTGCCCAGACCCTCTAGGCTGTGAAAAGCCTTTCCCGCACTGTTCAACCAAAACTTCTTTTCTGATCCTCTTGGGTTATGAACGTCTGTGCATCTGAGGGTGGTCCTGATTTCATTACTTGCTCGTGTTTTGGATGAGAAAGCTGAGGCCCAGTGAAAGCCAAGTTCAAACCCAACTTTAGCAGACCCTGTGCTGTGCTGGTAAACTGCCTCCAGCAAAGTAAAAAGCCCCGGTTTGTAGCATTTGCTAATTACTGTGGTGTAAATACTCCCACCATGGCTGATTTCCAACTACCCACATTTAACAACCAGCTATTAACAATATTCCTGGCCGGGCATGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAGAAATTGTGGTGAGCCAAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCCAAAAAAAAAACAAAAAACAAAACAATGTTCCTGAATATTTAACAATTCCTGGAATATTTAACAATTTAAATATTCCCGAATATTTAACAACAGCTGAGCCAGTGCACGTGGGCCCCAGCATTCCCCTGGGCTGACCCACTATGGGCACCTTCCTTTACTGAGACTGCTGCCCATGGGGGTTTTAAAGCTCTGTGAACACAGCACTGCCCCATGACTGCAATTCCCATCCCATCCTGTAGGTCCCGTGCAGCCTCCTAGCCCTCCAGCACCTGAGTCCCTGGTCTGGGTTCCAGTGTGGCCCTGCCTCTCTGAGCAACTGTGTCCCTCCACAGGCAGTGACAGCAGCTGACATGGAGGCCCGCCTGGCGTGCGGCCTGGTAAAGGGCCACGCATACGCCGTCACTGATGTGCGCAAGGTGCGCCTGGGCCACGGCCTACTGGCCTTCTTCAAGTCAGAGAAGTTGGACATGATCCGCCTGCGCAACCCCTGGGGCGAGCGGGAGTGGAACGGGCCCTGGAGTGACACGTGAGGCCTGGGGATGGGGGTGCAGGCACAGGGCATGAGGGCTTGGACAAGGACGGGTGGGCTTCTTGGAGGAGTTGGCACTGGGGCTGGGCCTTGAAGGATCTGGGGGAGGATGACACTAGGAACGAAGAAGGGAGAATTACTTTGCAGTGGTTGTATGGGGTGATGGATTGAGCACAAGAAAGGCCTGGGGCTGGAGGCCATCAGGGGTGTAGAGACCAGCTTGGTGAGTGGGTGCGGGAGGGGAGCAGGGAGGGAGGCCACAGCCCTGAGCAAATGGGGGACTCCTCTGTGCTTGGCTTATGGCCCTGGTAAGGCCAAGATGGGAGTGGAGCCCAGGTGCTAAGTGAAGGAGCCCTCTTCACTGGGGGTCGCACCCCCCTTCCCCCCAGTCTGCAGCTTTACTTTCAGACCTCCCAGCCCCTGTCATGGTGGCAGCTCACGGTCCCTTGTGGGAGGAGACAGGCAGGGCTTCCTGGAGAGGGGCTGGGCATGGCCTCAGTGCCCCTGGCCACACCGTGCCGCTGGAGGCCTGGTGCAAGACTGCCCCTCGTGCCTCCTCGCCTTTGCCAGACAGATTCTGGTGGGGCTGCCTCTTAGACAGCTCCCTTTCTCCTCCCCGGCCCTGACACCCCAGCTCGGAGGAGTGGCAGAAAGTGAGCAAGAGTGAGCGGGAGAAGATGGGTGTGACCGTGCAGGACGACGGTGAGTTCTGGTGAGTGTGTATGTGCCCTGGGCGTCCGGGGCTGAGGGGGCTTCCCACGGGCCTGGCGGGGAGCACCAGGTGGGGAGTCAGGAGCCAGGCCTCTCCTGCATGCCCCATCATCAATTTGCTGTGTGGCCTTGGACAAGTCACACCATCTCAGAGCCTGTTTCCTCCTCTGTAAAATTAGTTGGGCAGTACCAGGCCCTTTCATCCCCACAGTCCCCTCTGCCGAACTGAGGGGTCCTGGAGCCGCTGTGGCACCCAGACCGAGCCTTTGGCATGCAGGTCAGGGAGCCGTCTAAGAGGTGGGCCCACCAGGATCTCCCCGGCAAGGGTAAGGAGGCATGAAGCACAGTCCAGCACCAGCAGTATGGTGTGGCCAGGGGCACTGGGGCTATGCCCAGCCCCTCTCCAGGAAGCCCTGCCCTCAGCCTGCCTCCAGGGGCCCTCTGGCAGCCTGATTTCTGAAATTAGGTAGCAGAGGCTCCTAGAGGAACTAGCTTCTAAGCTGAGACTTGAGGTACAGAGTAGGCCTTGGTGGGCAAGGAAGAGGACGTGGCTCAGAGGTGAGAGAACACAGCTGTGTTTGAGAAGGGAGCTAAGCAGGTACATGGGTGAGCTGGGAAGATGACAGCAGCTCAGCTTAAAGAGCCCAGTAATTGGCTGGGTACAGTGGCTCATGTCTATAATCCCAGCACTTTGGGAGGTCAAGGTAGAAGGATTGCTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCAGCATAGTGGGACCCCATCTCTACAAAAATGAAAAATTAGCTGGGTGTGATGATGTACCCCTGTAGTCTCAGCTACTCTAGAGGCTGAGAGGGGAGGATTGCTTGAGCCCAGGAGGTTGAGTTTATAGTGAGCCATGATCGCACCACTGCACTCCATCCTGGGCTAAAGAGCAAGACCCTGTTTCAAAAACAAAAAGAAAAACCCCAGTAGTAATAAAAGTTCATCCTGCATTCATCCAGCCTGCATGAGTCCTGAATGTGGGCTAGGCTCAGTGTCACCCTTCAGCAGAACCTGATATGGAAACTCAGTCCCTTCCTGGAGGGGTATTGGCATCCTGTGTGTGCTGGATTCTGTCAGGGCCCCCAGGCAGACTGGGGGCAGATGGCAGTGGTCCTGGCACCCAATGATGAACCCTTCTG
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GGGAACCCTGGGGAAGAGTGACTCGCGCAGGCCGTTGCAGGGCAGGGATACGCCTAGGCCAGGAGGGAGGAGGGAGGAGGGGCAGTGGGGTCAGAGGCCAGCCTCGCCAGCTCTAGGTGAGCCACTCTCTGGTTCCTCCTGCTAGGCCCATTTGTCAATCTTGCTGAAAAAATGTGTGTGTAGGGGCAGGAGCAAGGAGAGAGAGAGATAGAAAACAAGAGAAAGGGGGAGAGAGGAAAAGGAAAGACAAAAACTCCCAACATCAAAAACCCAAGAAAACACATTGGCAGGTTCCACTTTCAATCCTAAGAAAGGAAAGCCAGCCCCCTGGTGGCCACTGAGTCTCCACCACCTGGATGCAGGTCGACCCAGTGGCCTTGGTTGTTTTTTGTTTTTTGAAAAAACACAGTTTCATTGTGGTAAAATAGACAAAACATAATGCTTCTCATTTTAACCATATGGAAACATACAATTCAGTGGCATTCATTATGATCACAGTGCTATGGGCCATCACCACTATCTATCCCCAGAACCTTCTCATCATTCCCAGCAGGAGGTCTATACCCATCCGACAGTAACTCCTTCCCCTCCCCCTGACCATTGTTGGCACTTTGGAAAAGAGTTGCTTTTTTTTTTTTGGACAGCTGATTTTTTAAGATTGAGCCACTAAGGCTTAGGGGAATTTAAGCCTTATATGTTGGCCCGAGTGTTAAGAACTGGGTTCCAGTGTTGGCTCCGCCGTGGCCTGCTGCGTGACTGTAACAGGTTGTTTGACCCCTCTGAGTTTCAAAAACCTCCCCTATGAGGTAAAGGATGCAGCCTGGCTGGGGAGCATGAGCTGGGAAGTCTTTCCACATTGCTTCCCAGACTGGCAGGCTGTTACCAGGCCCTGGATGGAGGCAACACAGCAGACGCACTGGTGGACTTCACGGGTGGTGTTTCTGAGCCCATCGACCTGACCGAGGGTGACTTTGCCAACGATGAGACTAAGAGGAACCAGCTCTTTGAGCGCATGTTAAAGGTGCACAGCCGGGGCGGCCTCATCAGTGCCTCCATCAAGGTGAGAACACGGCAGTCCCCAGAGGCGACCCCTCCCCTTCACCCTCGCTGACTGAGATGGGAGACAACTGTGACATCCCACGCTCAGGTCAGCTCCTACGTATTCAGACCCTCAGCCTCGTGGGGGAGGGGAGAAGTTGGAAGGTGCAACCCCCTGCCCAGACCCTCTAGGCTGTGAAAAGCCTTTCCCGCACTGTTCAACCAAAACTTCTTTTCTGATCCTCTTGGGTTATGAACGTCTGTGCATCTGAGGGTGGTCCTGATTTCATTACTTGCTCGTGTTTTGGATGAGAAAGCTGAGGCCCAGTGAAAGCCAAGTTCAAACCCAACTTTAGCAGACCCTGTGCTGTGCTGGTAAACTGCCTCCAGCAAAGTAAAAAGCCCCGGTTTGTAGCATTTGCTAATTACTGTGGTGTAAATACTCCCACCATGGCTGATTTCCAACTACCCACATTTAACAACCAGCTATTAACAATATTCCTGGCCGGGCATGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAGAAATTGTGGTGAGCCAAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCCAAAAAAAAAACAAAAAACAAAACAATGTTCCTGAATATTTAACAATTCCTGGAATATTTAACAATTTAAATATTCCCGAATATTTAACAACAGCTGAGCCAGTGCACGTGGGCCCCAGCATTCCCCTGGGCTGACCCACTATGGGCACCTTCCTTTACTGAGACTGCTGCCCATGGGGGTTTTAAAGCTCTGTGAACACAGCACTGCCCCATGACTGCAATTCCCATCCCATCCTGTAGGTCCCGTGCAGCCTCCTAGCCCTCCAGCACCTGAGTCCCTGGTCTGGGTTCCAGTGTGGCCCTGCCTCTCTGAGCAACTGTGTCCCTCCACAGGCAGTGACAGCAGCTGACATGGAGGCCCTCCTGGCGTGCGGCCTGGTAAAGGGCCACGCATACGCCGTCACTGATGTGCGCAAGGTGCGCCTGGGCCACGGCCTACTGGCCTTCTTCAAGTCAGAGAAGTTGGACATGATCCGCCTGCGCAACCCCTGGGGCGAGCGGGAGTGGAACGGGCCCTGGAGTGACACGTGAGGCCTGGGGATGGGGGTGCAGGCACAGGGCATGAGGGCTTGGACAAGGACGGGTGGGCTTCTTGGAGGAGTTGGCACTGGGGCTGGGCCTTGAAGGATCTGGGGGAGGATGACACTAGGAACGAAGAAGGGAGAATTACTTTGCAGTGGTTGTATGGGGTGATGGATTGAGCACAAGAAAGGCCTGGGGCTGGAGGCCATCAGGGGTGTAGAGACCAGCTTGGTGAGTGGGTGCGGGAGGGGAGCAGGGAGGGAGGCCACAGCCCTGAGCAAATGGGGGACTCCTCTGTGCTTGGCTTATGGCCCTGGTAAGGCCAAGATGGGAGTGGAGCCCAGGTGCTAAGTGAAGGAGCCCTCTTCACTGGGGGTCGCACCCCCCTTCCCCCCAGTCTGCAGCTTTACTTTCAGACCTCCCAGCCCCTGTCATGGTGGCAGCTCACGGTCCCTTGTGGGAGGAGACAGGCAGGGCTTCCTGGAGAGGGGCTGGGCATGGCCTCAGTGCCCCTGGCCACACCGTGCCGCTGGAGGCCTGGTGCAAGACTGCCCCTCGTGCCTCCTCGCCTTTGCCAGACAGATTCTGGTGGGGCTGCCTCTTAGACAGCTCCCTTTCTCCTCCCCGGCCCTGACACCCCAGCTCGGAGGAGTGGCAGAAAGTGAGCAAGAGTGAGCGGGAGAAGATGGGTGTGACCGTGCAGGACGACGGTGAGTTCTGGTGAGTGTGTATGTGCCCTGGGCGTCCGGGGCTGAGGGGGCTTCCCACGGGCCTGGCGGGGAGCACCAGGTGGGGAGTCAGGAGCCAGGCCTCTCCTGCATGCCCCATCATCAATTTGCTGTGTGGCCTTGGACAAGTCACACCATCTCAGAGCCTGTTTCCTCCTCTGTAAAATTAGTTGGGCAGTACCAGGCCCTTTCATCCCCACAGTCCCCTCTGCCGAACTGAGGGGTCCTGGAGCCGCTGTGGCACCCAGACCGAGCCTTTGGCATGCAGGTCAGGGAGCCGTCTAAGAGGTGGGCCCACCAGGATCTCCCCGGCAAGGGTAAGGAGGCATGAAGCACAGTCCAGCACCAGCAGTATGGTGTGGCCAGGGGCACTGGGGCTATGCCCAGCCCCTCTCCAGGAAGCCCTGCCCTCAGCCTGCCTCCAGGGGCCCTCTGGCAGCCTGATTTCTGAAATTAGGTAGCAGAGGCTCCTAGAGGAACTAGCTTCTAAGCTGAGACTTGAGGTACAGAGTAGGCCTTGGTGGGCAAGGAAGAGGACGTGGCTCAGAGGTGAGAGAACACAGCTGTGTTTGAGAAGGGAGCTAAGCAGGTACATGGGTGAGCTGGGAAGATGACAGCAGCTCAGCTTAAAGAGCCCAGTAATTGGCTGGGTACAGTGGCTCATGTCTATAATCCCAGCACTTTGGGAGGTCAAGGTAGAAGGATTGCTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCAGCATAGTGGGACCCCATCTCTACAAAAATGAAAAATTAGCTGGGTGTGATGATGTACCCCTGTAGTCTCAGCTACTCTAGAGGCTGAGAGGGGAGGATTGCTTGAGCCCAGGAGGTTGAGTTTATAGTGAGCCATGATCGCACCACTGCACTCCATCCTGGGCTAAAGAGCAAGACCCTGTTTCAAAAACAAAAAGAAAAACCCCAGTAGTAATAAAAGTTCATCCTGCATTCATCCAGCCTGCATGAGTCCTGAATGTGGGCTAGGCTCAGTGTCACCCTTCAGCAGAACCTGATATGGAAACTCAGTCCCTTCCTGGAGGGGTATTGGCATCCTGTGTGTGCTGGATTCTGTCAGGGCCCCCAGGCAGACTGGGGGCAGATGGCAGTGGTCCTGGCACCCAATGATGAACCCTTCTG
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Task1_train_16294
|
Chromosome 11 houses a mutation in gene CAPN5 (calpain 5). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; not provided
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AACCCTGGGGAAGAGTGACTCGCGCAGGCCGTTGCAGGGCAGGGATACGCCTAGGCCAGGAGGGAGGAGGGAGGAGGGGCAGTGGGGTCAGAGGCCAGCCTCGCCAGCTCTAGGTGAGCCACTCTCTGGTTCCTCCTGCTAGGCCCATTTGTCAATCTTGCTGAAAAAATGTGTGTGTAGGGGCAGGAGCAAGGAGAGAGAGAGATAGAAAACAAGAGAAAGGGGGAGAGAGGAAAAGGAAAGACAAAAACTCCCAACATCAAAAACCCAAGAAAACACATTGGCAGGTTCCACTTTCAATCCTAAGAAAGGAAAGCCAGCCCCCTGGTGGCCACTGAGTCTCCACCACCTGGATGCAGGTCGACCCAGTGGCCTTGGTTGTTTTTTGTTTTTTGAAAAAACACAGTTTCATTGTGGTAAAATAGACAAAACATAATGCTTCTCATTTTAACCATATGGAAACATACAATTCAGTGGCATTCATTATGATCACAGTGCTATGGGCCATCACCACTATCTATCCCCAGAACCTTCTCATCATTCCCAGCAGGAGGTCTATACCCATCCGACAGTAACTCCTTCCCCTCCCCCTGACCATTGTTGGCACTTTGGAAAAGAGTTGCTTTTTTTTTTTTGGACAGCTGATTTTTTAAGATTGAGCCACTAAGGCTTAGGGGAATTTAAGCCTTATATGTTGGCCCGAGTGTTAAGAACTGGGTTCCAGTGTTGGCTCCGCCGTGGCCTGCTGCGTGACTGTAACAGGTTGTTTGACCCCTCTGAGTTTCAAAAACCTCCCCTATGAGGTAAAGGATGCAGCCTGGCTGGGGAGCATGAGCTGGGAAGTCTTTCCACATTGCTTCCCAGACTGGCAGGCTGTTACCAGGCCCTGGATGGAGGCAACACAGCAGACGCACTGGTGGACTTCACGGGTGGTGTTTCTGAGCCCATCGACCTGACCGAGGGTGACTTTGCCAACGATGAGACTAAGAGGAACCAGCTCTTTGAGCGCATGTTAAAGGTGCACAGCCGGGGCGGCCTCATCAGTGCCTCCATCAAGGTGAGAACACGGCAGTCCCCAGAGGCGACCCCTCCCCTTCACCCTCGCTGACTGAGATGGGAGACAACTGTGACATCCCACGCTCAGGTCAGCTCCTACGTATTCAGACCCTCAGCCTCGTGGGGGAGGGGAGAAGTTGGAAGGTGCAACCCCCTGCCCAGACCCTCTAGGCTGTGAAAAGCCTTTCCCGCACTGTTCAACCAAAACTTCTTTTCTGATCCTCTTGGGTTATGAACGTCTGTGCATCTGAGGGTGGTCCTGATTTCATTACTTGCTCGTGTTTTGGATGAGAAAGCTGAGGCCCAGTGAAAGCCAAGTTCAAACCCAACTTTAGCAGACCCTGTGCTGTGCTGGTAAACTGCCTCCAGCAAAGTAAAAAGCCCCGGTTTGTAGCATTTGCTAATTACTGTGGTGTAAATACTCCCACCATGGCTGATTTCCAACTACCCACATTTAACAACCAGCTATTAACAATATTCCTGGCCGGGCATGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAGAAATTGTGGTGAGCCAAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCCAAAAAAAAAACAAAAAACAAAACAATGTTCCTGAATATTTAACAATTCCTGGAATATTTAACAATTTAAATATTCCCGAATATTTAACAACAGCTGAGCCAGTGCACGTGGGCCCCAGCATTCCCCTGGGCTGACCCACTATGGGCACCTTCCTTTACTGAGACTGCTGCCCATGGGGGTTTTAAAGCTCTGTGAACACAGCACTGCCCCATGACTGCAATTCCCATCCCATCCTGTAGGTCCCGTGCAGCCTCCTAGCCCTCCAGCACCTGAGTCCCTGGTCTGGGTTCCAGTGTGGCCCTGCCTCTCTGAGCAACTGTGTCCCTCCACAGGCAGTGACAGCAGCTGACATGGAGGCCCGCCTGGCGTGCGGCCTGGTAAAGGGCCACGCATACGCCGTCACTGATGTGCGCAAGGTGCGCCTGGGCCACGGCCTACTGGCCTTCTTCAAGTCAGAGAAGTTGGACATGATCCGCCTGCGCAACCCCTGGGGCGAGCGGGAGTGGAACGGGCCCTGGAGTGACACGTGAGGCCTGGGGATGGGGGTGCAGGCACAGGGCATGAGGGCTTGGACAAGGACGGGTGGGCTTCTTGGAGGAGTTGGCACTGGGGCTGGGCCTTGAAGGATCTGGGGGAGGATGACACTAGGAACGAAGAAGGGAGAATTACTTTGCAGTGGTTGTATGGGGTGATGGATTGAGCACAAGAAAGGCCTGGGGCTGGAGGCCATCAGGGGTGTAGAGACCAGCTTGGTGAGTGGGTGCGGGAGGGGAGCAGGGAGGGAGGCCACAGCCCTGAGCAAATGGGGGACTCCTCTGTGCTTGGCTTATGGCCCTGGTAAGGCCAAGATGGGAGTGGAGCCCAGGTGCTAAGTGAAGGAGCCCTCTTCACTGGGGGTCGCACCCCCCTTCCCCCCAGTCTGCAGCTTTACTTTCAGACCTCCCAGCCCCTGTCATGGTGGCAGCTCACGGTCCCTTGTGGGAGGAGACAGGCAGGGCTTCCTGGAGAGGGGCTGGGCATGGCCTCAGTGCCCCTGGCCACACCGTGCCGCTGGAGGCCTGGTGCAAGACTGCCCCTCGTGCCTCCTCGCCTTTGCCAGACAGATTCTGGTGGGGCTGCCTCTTAGACAGCTCCCTTTCTCCTCCCCGGCCCTGACACCCCAGCTCGGAGGAGTGGCAGAAAGTGAGCAAGAGTGAGCGGGAGAAGATGGGTGTGACCGTGCAGGACGACGGTGAGTTCTGGTGAGTGTGTATGTGCCCTGGGCGTCCGGGGCTGAGGGGGCTTCCCACGGGCCTGGCGGGGAGCACCAGGTGGGGAGTCAGGAGCCAGGCCTCTCCTGCATGCCCCATCATCAATTTGCTGTGTGGCCTTGGACAAGTCACACCATCTCAGAGCCTGTTTCCTCCTCTGTAAAATTAGTTGGGCAGTACCAGGCCCTTTCATCCCCACAGTCCCCTCTGCCGAACTGAGGGGTCCTGGAGCCGCTGTGGCACCCAGACCGAGCCTTTGGCATGCAGGTCAGGGAGCCGTCTAAGAGGTGGGCCCACCAGGATCTCCCCGGCAAGGGTAAGGAGGCATGAAGCACAGTCCAGCACCAGCAGTATGGTGTGGCCAGGGGCACTGGGGCTATGCCCAGCCCCTCTCCAGGAAGCCCTGCCCTCAGCCTGCCTCCAGGGGCCCTCTGGCAGCCTGATTTCTGAAATTAGGTAGCAGAGGCTCCTAGAGGAACTAGCTTCTAAGCTGAGACTTGAGGTACAGAGTAGGCCTTGGTGGGCAAGGAAGAGGACGTGGCTCAGAGGTGAGAGAACACAGCTGTGTTTGAGAAGGGAGCTAAGCAGGTACATGGGTGAGCTGGGAAGATGACAGCAGCTCAGCTTAAAGAGCCCAGTAATTGGCTGGGTACAGTGGCTCATGTCTATAATCCCAGCACTTTGGGAGGTCAAGGTAGAAGGATTGCTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCAGCATAGTGGGACCCCATCTCTACAAAAATGAAAAATTAGCTGGGTGTGATGATGTACCCCTGTAGTCTCAGCTACTCTAGAGGCTGAGAGGGGAGGATTGCTTGAGCCCAGGAGGTTGAGTTTATAGTGAGCCATGATCGCACCACTGCACTCCATCCTGGGCTAAAGAGCAAGACCCTGTTTCAAAAACAAAAAGAAAAACCCCAGTAGTAATAAAAGTTCATCCTGCATTCATCCAGCCTGCATGAGTCCTGAATGTGGGCTAGGCTCAGTGTCACCCTTCAGCAGAACCTGATATGGAAACTCAGTCCCTTCCTGGAGGGGTATTGGCATCCTGTGTGTGCTGGATTCTGTCAGGGCCCCCAGGCAGACTGGGGGCAGATGGCAGTGGTCCTGGCACCCAATGATGAACCCTTCTGCAG
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AACCCTGGGGAAGAGTGACTCGCGCAGGCCGTTGCAGGGCAGGGATACGCCTAGGCCAGGAGGGAGGAGGGAGGAGGGGCAGTGGGGTCAGAGGCCAGCCTCGCCAGCTCTAGGTGAGCCACTCTCTGGTTCCTCCTGCTAGGCCCATTTGTCAATCTTGCTGAAAAAATGTGTGTGTAGGGGCAGGAGCAAGGAGAGAGAGAGATAGAAAACAAGAGAAAGGGGGAGAGAGGAAAAGGAAAGACAAAAACTCCCAACATCAAAAACCCAAGAAAACACATTGGCAGGTTCCACTTTCAATCCTAAGAAAGGAAAGCCAGCCCCCTGGTGGCCACTGAGTCTCCACCACCTGGATGCAGGTCGACCCAGTGGCCTTGGTTGTTTTTTGTTTTTTGAAAAAACACAGTTTCATTGTGGTAAAATAGACAAAACATAATGCTTCTCATTTTAACCATATGGAAACATACAATTCAGTGGCATTCATTATGATCACAGTGCTATGGGCCATCACCACTATCTATCCCCAGAACCTTCTCATCATTCCCAGCAGGAGGTCTATACCCATCCGACAGTAACTCCTTCCCCTCCCCCTGACCATTGTTGGCACTTTGGAAAAGAGTTGCTTTTTTTTTTTTGGACAGCTGATTTTTTAAGATTGAGCCACTAAGGCTTAGGGGAATTTAAGCCTTATATGTTGGCCCGAGTGTTAAGAACTGGGTTCCAGTGTTGGCTCCGCCGTGGCCTGCTGCGTGACTGTAACAGGTTGTTTGACCCCTCTGAGTTTCAAAAACCTCCCCTATGAGGTAAAGGATGCAGCCTGGCTGGGGAGCATGAGCTGGGAAGTCTTTCCACATTGCTTCCCAGACTGGCAGGCTGTTACCAGGCCCTGGATGGAGGCAACACAGCAGACGCACTGGTGGACTTCACGGGTGGTGTTTCTGAGCCCATCGACCTGACCGAGGGTGACTTTGCCAACGATGAGACTAAGAGGAACCAGCTCTTTGAGCGCATGTTAAAGGTGCACAGCCGGGGCGGCCTCATCAGTGCCTCCATCAAGGTGAGAACACGGCAGTCCCCAGAGGCGACCCCTCCCCTTCACCCTCGCTGACTGAGATGGGAGACAACTGTGACATCCCACGCTCAGGTCAGCTCCTACGTATTCAGACCCTCAGCCTCGTGGGGGAGGGGAGAAGTTGGAAGGTGCAACCCCCTGCCCAGACCCTCTAGGCTGTGAAAAGCCTTTCCCGCACTGTTCAACCAAAACTTCTTTTCTGATCCTCTTGGGTTATGAACGTCTGTGCATCTGAGGGTGGTCCTGATTTCATTACTTGCTCGTGTTTTGGATGAGAAAGCTGAGGCCCAGTGAAAGCCAAGTTCAAACCCAACTTTAGCAGACCCTGTGCTGTGCTGGTAAACTGCCTCCAGCAAAGTAAAAAGCCCCGGTTTGTAGCATTTGCTAATTACTGTGGTGTAAATACTCCCACCATGGCTGATTTCCAACTACCCACATTTAACAACCAGCTATTAACAATATTCCTGGCCGGGCATGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAGAAATTGTGGTGAGCCAAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCCAAAAAAAAAACAAAAAACAAAACAATGTTCCTGAATATTTAACAATTCCTGGAATATTTAACAATTTAAATATTCCCGAATATTTAACAACAGCTGAGCCAGTGCACGTGGGCCCCAGCATTCCCCTGGGCTGACCCACTATGGGCACCTTCCTTTACTGAGACTGCTGCCCATGGGGGTTTTAAAGCTCTGTGAACACAGCACTGCCCCATGACTGCAATTCCCATCCCATCCTGTAGGTCCCGTGCAGCCTCCTAGCCCTCCAGCACCTGAGTCCCTGGTCTGGGTTCCAGTGTGGCCCTGCCTCTCTGAGCAACTGTGTCCCTCCACAGGCAGTGACAGCAGCTGACATGGAGGCCCGCCCGGCGTGCGGCCTGGTAAAGGGCCACGCATACGCCGTCACTGATGTGCGCAAGGTGCGCCTGGGCCACGGCCTACTGGCCTTCTTCAAGTCAGAGAAGTTGGACATGATCCGCCTGCGCAACCCCTGGGGCGAGCGGGAGTGGAACGGGCCCTGGAGTGACACGTGAGGCCTGGGGATGGGGGTGCAGGCACAGGGCATGAGGGCTTGGACAAGGACGGGTGGGCTTCTTGGAGGAGTTGGCACTGGGGCTGGGCCTTGAAGGATCTGGGGGAGGATGACACTAGGAACGAAGAAGGGAGAATTACTTTGCAGTGGTTGTATGGGGTGATGGATTGAGCACAAGAAAGGCCTGGGGCTGGAGGCCATCAGGGGTGTAGAGACCAGCTTGGTGAGTGGGTGCGGGAGGGGAGCAGGGAGGGAGGCCACAGCCCTGAGCAAATGGGGGACTCCTCTGTGCTTGGCTTATGGCCCTGGTAAGGCCAAGATGGGAGTGGAGCCCAGGTGCTAAGTGAAGGAGCCCTCTTCACTGGGGGTCGCACCCCCCTTCCCCCCAGTCTGCAGCTTTACTTTCAGACCTCCCAGCCCCTGTCATGGTGGCAGCTCACGGTCCCTTGTGGGAGGAGACAGGCAGGGCTTCCTGGAGAGGGGCTGGGCATGGCCTCAGTGCCCCTGGCCACACCGTGCCGCTGGAGGCCTGGTGCAAGACTGCCCCTCGTGCCTCCTCGCCTTTGCCAGACAGATTCTGGTGGGGCTGCCTCTTAGACAGCTCCCTTTCTCCTCCCCGGCCCTGACACCCCAGCTCGGAGGAGTGGCAGAAAGTGAGCAAGAGTGAGCGGGAGAAGATGGGTGTGACCGTGCAGGACGACGGTGAGTTCTGGTGAGTGTGTATGTGCCCTGGGCGTCCGGGGCTGAGGGGGCTTCCCACGGGCCTGGCGGGGAGCACCAGGTGGGGAGTCAGGAGCCAGGCCTCTCCTGCATGCCCCATCATCAATTTGCTGTGTGGCCTTGGACAAGTCACACCATCTCAGAGCCTGTTTCCTCCTCTGTAAAATTAGTTGGGCAGTACCAGGCCCTTTCATCCCCACAGTCCCCTCTGCCGAACTGAGGGGTCCTGGAGCCGCTGTGGCACCCAGACCGAGCCTTTGGCATGCAGGTCAGGGAGCCGTCTAAGAGGTGGGCCCACCAGGATCTCCCCGGCAAGGGTAAGGAGGCATGAAGCACAGTCCAGCACCAGCAGTATGGTGTGGCCAGGGGCACTGGGGCTATGCCCAGCCCCTCTCCAGGAAGCCCTGCCCTCAGCCTGCCTCCAGGGGCCCTCTGGCAGCCTGATTTCTGAAATTAGGTAGCAGAGGCTCCTAGAGGAACTAGCTTCTAAGCTGAGACTTGAGGTACAGAGTAGGCCTTGGTGGGCAAGGAAGAGGACGTGGCTCAGAGGTGAGAGAACACAGCTGTGTTTGAGAAGGGAGCTAAGCAGGTACATGGGTGAGCTGGGAAGATGACAGCAGCTCAGCTTAAAGAGCCCAGTAATTGGCTGGGTACAGTGGCTCATGTCTATAATCCCAGCACTTTGGGAGGTCAAGGTAGAAGGATTGCTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCAGCATAGTGGGACCCCATCTCTACAAAAATGAAAAATTAGCTGGGTGTGATGATGTACCCCTGTAGTCTCAGCTACTCTAGAGGCTGAGAGGGGAGGATTGCTTGAGCCCAGGAGGTTGAGTTTATAGTGAGCCATGATCGCACCACTGCACTCCATCCTGGGCTAAAGAGCAAGACCCTGTTTCAAAAACAAAAAGAAAAACCCCAGTAGTAATAAAAGTTCATCCTGCATTCATCCAGCCTGCATGAGTCCTGAATGTGGGCTAGGCTCAGTGTCACCCTTCAGCAGAACCTGATATGGAAACTCAGTCCCTTCCTGGAGGGGTATTGGCATCCTGTGTGTGCTGGATTCTGTCAGGGCCCCCAGGCAGACTGGGGGCAGATGGCAGTGGTCCTGGCACCCAATGATGAACCCTTCTGCAG
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Task1_train_16295
|
Chromosome 11 houses a mutation in gene CAPN5 (calpain 5). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Proliferative vitreoretinopathy
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TCGCGCAGGCCGTTGCAGGGCAGGGATACGCCTAGGCCAGGAGGGAGGAGGGAGGAGGGGCAGTGGGGTCAGAGGCCAGCCTCGCCAGCTCTAGGTGAGCCACTCTCTGGTTCCTCCTGCTAGGCCCATTTGTCAATCTTGCTGAAAAAATGTGTGTGTAGGGGCAGGAGCAAGGAGAGAGAGAGATAGAAAACAAGAGAAAGGGGGAGAGAGGAAAAGGAAAGACAAAAACTCCCAACATCAAAAACCCAAGAAAACACATTGGCAGGTTCCACTTTCAATCCTAAGAAAGGAAAGCCAGCCCCCTGGTGGCCACTGAGTCTCCACCACCTGGATGCAGGTCGACCCAGTGGCCTTGGTTGTTTTTTGTTTTTTGAAAAAACACAGTTTCATTGTGGTAAAATAGACAAAACATAATGCTTCTCATTTTAACCATATGGAAACATACAATTCAGTGGCATTCATTATGATCACAGTGCTATGGGCCATCACCACTATCTATCCCCAGAACCTTCTCATCATTCCCAGCAGGAGGTCTATACCCATCCGACAGTAACTCCTTCCCCTCCCCCTGACCATTGTTGGCACTTTGGAAAAGAGTTGCTTTTTTTTTTTTGGACAGCTGATTTTTTAAGATTGAGCCACTAAGGCTTAGGGGAATTTAAGCCTTATATGTTGGCCCGAGTGTTAAGAACTGGGTTCCAGTGTTGGCTCCGCCGTGGCCTGCTGCGTGACTGTAACAGGTTGTTTGACCCCTCTGAGTTTCAAAAACCTCCCCTATGAGGTAAAGGATGCAGCCTGGCTGGGGAGCATGAGCTGGGAAGTCTTTCCACATTGCTTCCCAGACTGGCAGGCTGTTACCAGGCCCTGGATGGAGGCAACACAGCAGACGCACTGGTGGACTTCACGGGTGGTGTTTCTGAGCCCATCGACCTGACCGAGGGTGACTTTGCCAACGATGAGACTAAGAGGAACCAGCTCTTTGAGCGCATGTTAAAGGTGCACAGCCGGGGCGGCCTCATCAGTGCCTCCATCAAGGTGAGAACACGGCAGTCCCCAGAGGCGACCCCTCCCCTTCACCCTCGCTGACTGAGATGGGAGACAACTGTGACATCCCACGCTCAGGTCAGCTCCTACGTATTCAGACCCTCAGCCTCGTGGGGGAGGGGAGAAGTTGGAAGGTGCAACCCCCTGCCCAGACCCTCTAGGCTGTGAAAAGCCTTTCCCGCACTGTTCAACCAAAACTTCTTTTCTGATCCTCTTGGGTTATGAACGTCTGTGCATCTGAGGGTGGTCCTGATTTCATTACTTGCTCGTGTTTTGGATGAGAAAGCTGAGGCCCAGTGAAAGCCAAGTTCAAACCCAACTTTAGCAGACCCTGTGCTGTGCTGGTAAACTGCCTCCAGCAAAGTAAAAAGCCCCGGTTTGTAGCATTTGCTAATTACTGTGGTGTAAATACTCCCACCATGGCTGATTTCCAACTACCCACATTTAACAACCAGCTATTAACAATATTCCTGGCCGGGCATGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAGAAATTGTGGTGAGCCAAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCCAAAAAAAAAACAAAAAACAAAACAATGTTCCTGAATATTTAACAATTCCTGGAATATTTAACAATTTAAATATTCCCGAATATTTAACAACAGCTGAGCCAGTGCACGTGGGCCCCAGCATTCCCCTGGGCTGACCCACTATGGGCACCTTCCTTTACTGAGACTGCTGCCCATGGGGGTTTTAAAGCTCTGTGAACACAGCACTGCCCCATGACTGCAATTCCCATCCCATCCTGTAGGTCCCGTGCAGCCTCCTAGCCCTCCAGCACCTGAGTCCCTGGTCTGGGTTCCAGTGTGGCCCTGCCTCTCTGAGCAACTGTGTCCCTCCACAGGCAGTGACAGCAGCTGACATGGAGGCCCGCCTGGCGTGCGGCCTGGTAAAGGGCCACGCATACGCCGTCACTGATGTGCGCAAGGTGCGCCTGGGCCACGGCCTACTGGCCTTCTTCAAGTCAGAGAAGTTGGACATGATCCGCCTGCGCAACCCCTGGGGCGAGCGGGAGTGGAACGGGCCCTGGAGTGACACGTGAGGCCTGGGGATGGGGGTGCAGGCACAGGGCATGAGGGCTTGGACAAGGACGGGTGGGCTTCTTGGAGGAGTTGGCACTGGGGCTGGGCCTTGAAGGATCTGGGGGAGGATGACACTAGGAACGAAGAAGGGAGAATTACTTTGCAGTGGTTGTATGGGGTGATGGATTGAGCACAAGAAAGGCCTGGGGCTGGAGGCCATCAGGGGTGTAGAGACCAGCTTGGTGAGTGGGTGCGGGAGGGGAGCAGGGAGGGAGGCCACAGCCCTGAGCAAATGGGGGACTCCTCTGTGCTTGGCTTATGGCCCTGGTAAGGCCAAGATGGGAGTGGAGCCCAGGTGCTAAGTGAAGGAGCCCTCTTCACTGGGGGTCGCACCCCCCTTCCCCCCAGTCTGCAGCTTTACTTTCAGACCTCCCAGCCCCTGTCATGGTGGCAGCTCACGGTCCCTTGTGGGAGGAGACAGGCAGGGCTTCCTGGAGAGGGGCTGGGCATGGCCTCAGTGCCCCTGGCCACACCGTGCCGCTGGAGGCCTGGTGCAAGACTGCCCCTCGTGCCTCCTCGCCTTTGCCAGACAGATTCTGGTGGGGCTGCCTCTTAGACAGCTCCCTTTCTCCTCCCCGGCCCTGACACCCCAGCTCGGAGGAGTGGCAGAAAGTGAGCAAGAGTGAGCGGGAGAAGATGGGTGTGACCGTGCAGGACGACGGTGAGTTCTGGTGAGTGTGTATGTGCCCTGGGCGTCCGGGGCTGAGGGGGCTTCCCACGGGCCTGGCGGGGAGCACCAGGTGGGGAGTCAGGAGCCAGGCCTCTCCTGCATGCCCCATCATCAATTTGCTGTGTGGCCTTGGACAAGTCACACCATCTCAGAGCCTGTTTCCTCCTCTGTAAAATTAGTTGGGCAGTACCAGGCCCTTTCATCCCCACAGTCCCCTCTGCCGAACTGAGGGGTCCTGGAGCCGCTGTGGCACCCAGACCGAGCCTTTGGCATGCAGGTCAGGGAGCCGTCTAAGAGGTGGGCCCACCAGGATCTCCCCGGCAAGGGTAAGGAGGCATGAAGCACAGTCCAGCACCAGCAGTATGGTGTGGCCAGGGGCACTGGGGCTATGCCCAGCCCCTCTCCAGGAAGCCCTGCCCTCAGCCTGCCTCCAGGGGCCCTCTGGCAGCCTGATTTCTGAAATTAGGTAGCAGAGGCTCCTAGAGGAACTAGCTTCTAAGCTGAGACTTGAGGTACAGAGTAGGCCTTGGTGGGCAAGGAAGAGGACGTGGCTCAGAGGTGAGAGAACACAGCTGTGTTTGAGAAGGGAGCTAAGCAGGTACATGGGTGAGCTGGGAAGATGACAGCAGCTCAGCTTAAAGAGCCCAGTAATTGGCTGGGTACAGTGGCTCATGTCTATAATCCCAGCACTTTGGGAGGTCAAGGTAGAAGGATTGCTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCAGCATAGTGGGACCCCATCTCTACAAAAATGAAAAATTAGCTGGGTGTGATGATGTACCCCTGTAGTCTCAGCTACTCTAGAGGCTGAGAGGGGAGGATTGCTTGAGCCCAGGAGGTTGAGTTTATAGTGAGCCATGATCGCACCACTGCACTCCATCCTGGGCTAAAGAGCAAGACCCTGTTTCAAAAACAAAAAGAAAAACCCCAGTAGTAATAAAAGTTCATCCTGCATTCATCCAGCCTGCATGAGTCCTGAATGTGGGCTAGGCTCAGTGTCACCCTTCAGCAGAACCTGATATGGAAACTCAGTCCCTTCCTGGAGGGGTATTGGCATCCTGTGTGTGCTGGATTCTGTCAGGGCCCCCAGGCAGACTGGGGGCAGATGGCAGTGGTCCTGGCACCCAATGATGAACCCTTCTGCAGGTGTCAGGTCAGCTGCTGC
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TCGCGCAGGCCGTTGCAGGGCAGGGATACGCCTAGGCCAGGAGGGAGGAGGGAGGAGGGGCAGTGGGGTCAGAGGCCAGCCTCGCCAGCTCTAGGTGAGCCACTCTCTGGTTCCTCCTGCTAGGCCCATTTGTCAATCTTGCTGAAAAAATGTGTGTGTAGGGGCAGGAGCAAGGAGAGAGAGAGATAGAAAACAAGAGAAAGGGGGAGAGAGGAAAAGGAAAGACAAAAACTCCCAACATCAAAAACCCAAGAAAACACATTGGCAGGTTCCACTTTCAATCCTAAGAAAGGAAAGCCAGCCCCCTGGTGGCCACTGAGTCTCCACCACCTGGATGCAGGTCGACCCAGTGGCCTTGGTTGTTTTTTGTTTTTTGAAAAAACACAGTTTCATTGTGGTAAAATAGACAAAACATAATGCTTCTCATTTTAACCATATGGAAACATACAATTCAGTGGCATTCATTATGATCACAGTGCTATGGGCCATCACCACTATCTATCCCCAGAACCTTCTCATCATTCCCAGCAGGAGGTCTATACCCATCCGACAGTAACTCCTTCCCCTCCCCCTGACCATTGTTGGCACTTTGGAAAAGAGTTGCTTTTTTTTTTTTGGACAGCTGATTTTTTAAGATTGAGCCACTAAGGCTTAGGGGAATTTAAGCCTTATATGTTGGCCCGAGTGTTAAGAACTGGGTTCCAGTGTTGGCTCCGCCGTGGCCTGCTGCGTGACTGTAACAGGTTGTTTGACCCCTCTGAGTTTCAAAAACCTCCCCTATGAGGTAAAGGATGCAGCCTGGCTGGGGAGCATGAGCTGGGAAGTCTTTCCACATTGCTTCCCAGACTGGCAGGCTGTTACCAGGCCCTGGATGGAGGCAACACAGCAGACGCACTGGTGGACTTCACGGGTGGTGTTTCTGAGCCCATCGACCTGACCGAGGGTGACTTTGCCAACGATGAGACTAAGAGGAACCAGCTCTTTGAGCGCATGTTAAAGGTGCACAGCCGGGGCGGCCTCATCAGTGCCTCCATCAAGGTGAGAACACGGCAGTCCCCAGAGGCGACCCCTCCCCTTCACCCTCGCTGACTGAGATGGGAGACAACTGTGACATCCCACGCTCAGGTCAGCTCCTACGTATTCAGACCCTCAGCCTCGTGGGGGAGGGGAGAAGTTGGAAGGTGCAACCCCCTGCCCAGACCCTCTAGGCTGTGAAAAGCCTTTCCCGCACTGTTCAACCAAAACTTCTTTTCTGATCCTCTTGGGTTATGAACGTCTGTGCATCTGAGGGTGGTCCTGATTTCATTACTTGCTCGTGTTTTGGATGAGAAAGCTGAGGCCCAGTGAAAGCCAAGTTCAAACCCAACTTTAGCAGACCCTGTGCTGTGCTGGTAAACTGCCTCCAGCAAAGTAAAAAGCCCCGGTTTGTAGCATTTGCTAATTACTGTGGTGTAAATACTCCCACCATGGCTGATTTCCAACTACCCACATTTAACAACCAGCTATTAACAATATTCCTGGCCGGGCATGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAGAAATTGTGGTGAGCCAAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCCAAAAAAAAAACAAAAAACAAAACAATGTTCCTGAATATTTAACAATTCCTGGAATATTTAACAATTTAAATATTCCCGAATATTTAACAACAGCTGAGCCAGTGCACGTGGGCCCCAGCATTCCCCTGGGCTGACCCACTATGGGCACCTTCCTTTACTGAGACTGCTGCCCATGGGGGTTTTAAAGCTCTGTGAACACAGCACTGCCCCATGACTGCAATTCCCATCCCATCCTGTAGGTCCCGTGCAGCCTCCTAGCCCTCCAGCACCTGAGTCCCTGGTCTGGGTTCCAGTGTGGCCCTGCCTCTCTGAGCAACTGTGTCCCTCCACAGGCAGTGACAGCAGCTGACATGGAGGCCCGCCTGGCGTGCGGCCTGGTAAACGGCCACGCATACGCCGTCACTGATGTGCGCAAGGTGCGCCTGGGCCACGGCCTACTGGCCTTCTTCAAGTCAGAGAAGTTGGACATGATCCGCCTGCGCAACCCCTGGGGCGAGCGGGAGTGGAACGGGCCCTGGAGTGACACGTGAGGCCTGGGGATGGGGGTGCAGGCACAGGGCATGAGGGCTTGGACAAGGACGGGTGGGCTTCTTGGAGGAGTTGGCACTGGGGCTGGGCCTTGAAGGATCTGGGGGAGGATGACACTAGGAACGAAGAAGGGAGAATTACTTTGCAGTGGTTGTATGGGGTGATGGATTGAGCACAAGAAAGGCCTGGGGCTGGAGGCCATCAGGGGTGTAGAGACCAGCTTGGTGAGTGGGTGCGGGAGGGGAGCAGGGAGGGAGGCCACAGCCCTGAGCAAATGGGGGACTCCTCTGTGCTTGGCTTATGGCCCTGGTAAGGCCAAGATGGGAGTGGAGCCCAGGTGCTAAGTGAAGGAGCCCTCTTCACTGGGGGTCGCACCCCCCTTCCCCCCAGTCTGCAGCTTTACTTTCAGACCTCCCAGCCCCTGTCATGGTGGCAGCTCACGGTCCCTTGTGGGAGGAGACAGGCAGGGCTTCCTGGAGAGGGGCTGGGCATGGCCTCAGTGCCCCTGGCCACACCGTGCCGCTGGAGGCCTGGTGCAAGACTGCCCCTCGTGCCTCCTCGCCTTTGCCAGACAGATTCTGGTGGGGCTGCCTCTTAGACAGCTCCCTTTCTCCTCCCCGGCCCTGACACCCCAGCTCGGAGGAGTGGCAGAAAGTGAGCAAGAGTGAGCGGGAGAAGATGGGTGTGACCGTGCAGGACGACGGTGAGTTCTGGTGAGTGTGTATGTGCCCTGGGCGTCCGGGGCTGAGGGGGCTTCCCACGGGCCTGGCGGGGAGCACCAGGTGGGGAGTCAGGAGCCAGGCCTCTCCTGCATGCCCCATCATCAATTTGCTGTGTGGCCTTGGACAAGTCACACCATCTCAGAGCCTGTTTCCTCCTCTGTAAAATTAGTTGGGCAGTACCAGGCCCTTTCATCCCCACAGTCCCCTCTGCCGAACTGAGGGGTCCTGGAGCCGCTGTGGCACCCAGACCGAGCCTTTGGCATGCAGGTCAGGGAGCCGTCTAAGAGGTGGGCCCACCAGGATCTCCCCGGCAAGGGTAAGGAGGCATGAAGCACAGTCCAGCACCAGCAGTATGGTGTGGCCAGGGGCACTGGGGCTATGCCCAGCCCCTCTCCAGGAAGCCCTGCCCTCAGCCTGCCTCCAGGGGCCCTCTGGCAGCCTGATTTCTGAAATTAGGTAGCAGAGGCTCCTAGAGGAACTAGCTTCTAAGCTGAGACTTGAGGTACAGAGTAGGCCTTGGTGGGCAAGGAAGAGGACGTGGCTCAGAGGTGAGAGAACACAGCTGTGTTTGAGAAGGGAGCTAAGCAGGTACATGGGTGAGCTGGGAAGATGACAGCAGCTCAGCTTAAAGAGCCCAGTAATTGGCTGGGTACAGTGGCTCATGTCTATAATCCCAGCACTTTGGGAGGTCAAGGTAGAAGGATTGCTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCAGCATAGTGGGACCCCATCTCTACAAAAATGAAAAATTAGCTGGGTGTGATGATGTACCCCTGTAGTCTCAGCTACTCTAGAGGCTGAGAGGGGAGGATTGCTTGAGCCCAGGAGGTTGAGTTTATAGTGAGCCATGATCGCACCACTGCACTCCATCCTGGGCTAAAGAGCAAGACCCTGTTTCAAAAACAAAAAGAAAAACCCCAGTAGTAATAAAAGTTCATCCTGCATTCATCCAGCCTGCATGAGTCCTGAATGTGGGCTAGGCTCAGTGTCACCCTTCAGCAGAACCTGATATGGAAACTCAGTCCCTTCCTGGAGGGGTATTGGCATCCTGTGTGTGCTGGATTCTGTCAGGGCCCCCAGGCAGACTGGGGGCAGATGGCAGTGGTCCTGGCACCCAATGATGAACCCTTCTGCAGGTGTCAGGTCAGCTGCTGC
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Task1_train_16296
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A variant on Chromosome 11 in gene CAPN5 (calpain 5) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Inborn genetic diseases
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CCTGCTAGGCCCATTTGTCAATCTTGCTGAAAAAATGTGTGTGTAGGGGCAGGAGCAAGGAGAGAGAGAGATAGAAAACAAGAGAAAGGGGGAGAGAGGAAAAGGAAAGACAAAAACTCCCAACATCAAAAACCCAAGAAAACACATTGGCAGGTTCCACTTTCAATCCTAAGAAAGGAAAGCCAGCCCCCTGGTGGCCACTGAGTCTCCACCACCTGGATGCAGGTCGACCCAGTGGCCTTGGTTGTTTTTTGTTTTTTGAAAAAACACAGTTTCATTGTGGTAAAATAGACAAAACATAATGCTTCTCATTTTAACCATATGGAAACATACAATTCAGTGGCATTCATTATGATCACAGTGCTATGGGCCATCACCACTATCTATCCCCAGAACCTTCTCATCATTCCCAGCAGGAGGTCTATACCCATCCGACAGTAACTCCTTCCCCTCCCCCTGACCATTGTTGGCACTTTGGAAAAGAGTTGCTTTTTTTTTTTTGGACAGCTGATTTTTTAAGATTGAGCCACTAAGGCTTAGGGGAATTTAAGCCTTATATGTTGGCCCGAGTGTTAAGAACTGGGTTCCAGTGTTGGCTCCGCCGTGGCCTGCTGCGTGACTGTAACAGGTTGTTTGACCCCTCTGAGTTTCAAAAACCTCCCCTATGAGGTAAAGGATGCAGCCTGGCTGGGGAGCATGAGCTGGGAAGTCTTTCCACATTGCTTCCCAGACTGGCAGGCTGTTACCAGGCCCTGGATGGAGGCAACACAGCAGACGCACTGGTGGACTTCACGGGTGGTGTTTCTGAGCCCATCGACCTGACCGAGGGTGACTTTGCCAACGATGAGACTAAGAGGAACCAGCTCTTTGAGCGCATGTTAAAGGTGCACAGCCGGGGCGGCCTCATCAGTGCCTCCATCAAGGTGAGAACACGGCAGTCCCCAGAGGCGACCCCTCCCCTTCACCCTCGCTGACTGAGATGGGAGACAACTGTGACATCCCACGCTCAGGTCAGCTCCTACGTATTCAGACCCTCAGCCTCGTGGGGGAGGGGAGAAGTTGGAAGGTGCAACCCCCTGCCCAGACCCTCTAGGCTGTGAAAAGCCTTTCCCGCACTGTTCAACCAAAACTTCTTTTCTGATCCTCTTGGGTTATGAACGTCTGTGCATCTGAGGGTGGTCCTGATTTCATTACTTGCTCGTGTTTTGGATGAGAAAGCTGAGGCCCAGTGAAAGCCAAGTTCAAACCCAACTTTAGCAGACCCTGTGCTGTGCTGGTAAACTGCCTCCAGCAAAGTAAAAAGCCCCGGTTTGTAGCATTTGCTAATTACTGTGGTGTAAATACTCCCACCATGGCTGATTTCCAACTACCCACATTTAACAACCAGCTATTAACAATATTCCTGGCCGGGCATGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAGAAATTGTGGTGAGCCAAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCCAAAAAAAAAACAAAAAACAAAACAATGTTCCTGAATATTTAACAATTCCTGGAATATTTAACAATTTAAATATTCCCGAATATTTAACAACAGCTGAGCCAGTGCACGTGGGCCCCAGCATTCCCCTGGGCTGACCCACTATGGGCACCTTCCTTTACTGAGACTGCTGCCCATGGGGGTTTTAAAGCTCTGTGAACACAGCACTGCCCCATGACTGCAATTCCCATCCCATCCTGTAGGTCCCGTGCAGCCTCCTAGCCCTCCAGCACCTGAGTCCCTGGTCTGGGTTCCAGTGTGGCCCTGCCTCTCTGAGCAACTGTGTCCCTCCACAGGCAGTGACAGCAGCTGACATGGAGGCCCGCCTGGCGTGCGGCCTGGTAAAGGGCCACGCATACGCCGTCACTGATGTGCGCAAGGTGCGCCTGGGCCACGGCCTACTGGCCTTCTTCAAGTCAGAGAAGTTGGACATGATCCGCCTGCGCAACCCCTGGGGCGAGCGGGAGTGGAACGGGCCCTGGAGTGACACGTGAGGCCTGGGGATGGGGGTGCAGGCACAGGGCATGAGGGCTTGGACAAGGACGGGTGGGCTTCTTGGAGGAGTTGGCACTGGGGCTGGGCCTTGAAGGATCTGGGGGAGGATGACACTAGGAACGAAGAAGGGAGAATTACTTTGCAGTGGTTGTATGGGGTGATGGATTGAGCACAAGAAAGGCCTGGGGCTGGAGGCCATCAGGGGTGTAGAGACCAGCTTGGTGAGTGGGTGCGGGAGGGGAGCAGGGAGGGAGGCCACAGCCCTGAGCAAATGGGGGACTCCTCTGTGCTTGGCTTATGGCCCTGGTAAGGCCAAGATGGGAGTGGAGCCCAGGTGCTAAGTGAAGGAGCCCTCTTCACTGGGGGTCGCACCCCCCTTCCCCCCAGTCTGCAGCTTTACTTTCAGACCTCCCAGCCCCTGTCATGGTGGCAGCTCACGGTCCCTTGTGGGAGGAGACAGGCAGGGCTTCCTGGAGAGGGGCTGGGCATGGCCTCAGTGCCCCTGGCCACACCGTGCCGCTGGAGGCCTGGTGCAAGACTGCCCCTCGTGCCTCCTCGCCTTTGCCAGACAGATTCTGGTGGGGCTGCCTCTTAGACAGCTCCCTTTCTCCTCCCCGGCCCTGACACCCCAGCTCGGAGGAGTGGCAGAAAGTGAGCAAGAGTGAGCGGGAGAAGATGGGTGTGACCGTGCAGGACGACGGTGAGTTCTGGTGAGTGTGTATGTGCCCTGGGCGTCCGGGGCTGAGGGGGCTTCCCACGGGCCTGGCGGGGAGCACCAGGTGGGGAGTCAGGAGCCAGGCCTCTCCTGCATGCCCCATCATCAATTTGCTGTGTGGCCTTGGACAAGTCACACCATCTCAGAGCCTGTTTCCTCCTCTGTAAAATTAGTTGGGCAGTACCAGGCCCTTTCATCCCCACAGTCCCCTCTGCCGAACTGAGGGGTCCTGGAGCCGCTGTGGCACCCAGACCGAGCCTTTGGCATGCAGGTCAGGGAGCCGTCTAAGAGGTGGGCCCACCAGGATCTCCCCGGCAAGGGTAAGGAGGCATGAAGCACAGTCCAGCACCAGCAGTATGGTGTGGCCAGGGGCACTGGGGCTATGCCCAGCCCCTCTCCAGGAAGCCCTGCCCTCAGCCTGCCTCCAGGGGCCCTCTGGCAGCCTGATTTCTGAAATTAGGTAGCAGAGGCTCCTAGAGGAACTAGCTTCTAAGCTGAGACTTGAGGTACAGAGTAGGCCTTGGTGGGCAAGGAAGAGGACGTGGCTCAGAGGTGAGAGAACACAGCTGTGTTTGAGAAGGGAGCTAAGCAGGTACATGGGTGAGCTGGGAAGATGACAGCAGCTCAGCTTAAAGAGCCCAGTAATTGGCTGGGTACAGTGGCTCATGTCTATAATCCCAGCACTTTGGGAGGTCAAGGTAGAAGGATTGCTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCAGCATAGTGGGACCCCATCTCTACAAAAATGAAAAATTAGCTGGGTGTGATGATGTACCCCTGTAGTCTCAGCTACTCTAGAGGCTGAGAGGGGAGGATTGCTTGAGCCCAGGAGGTTGAGTTTATAGTGAGCCATGATCGCACCACTGCACTCCATCCTGGGCTAAAGAGCAAGACCCTGTTTCAAAAACAAAAAGAAAAACCCCAGTAGTAATAAAAGTTCATCCTGCATTCATCCAGCCTGCATGAGTCCTGAATGTGGGCTAGGCTCAGTGTCACCCTTCAGCAGAACCTGATATGGAAACTCAGTCCCTTCCTGGAGGGGTATTGGCATCCTGTGTGTGCTGGATTCTGTCAGGGCCCCCAGGCAGACTGGGGGCAGATGGCAGTGGTCCTGGCACCCAATGATGAACCCTTCTGCAGGTGTCAGGTCAGCTGCTGCAGGAGGCCACCCAGGCCACTTTGCCAGTCTTGCTCAGGAGTCAGCAGATAAAAACACGGCAGAGCTCCTTGCCTTTAGAAAGAGTTTCTTCCAAAGGCCTTTCTCTTACATGTTC
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CCTGCTAGGCCCATTTGTCAATCTTGCTGAAAAAATGTGTGTGTAGGGGCAGGAGCAAGGAGAGAGAGAGATAGAAAACAAGAGAAAGGGGGAGAGAGGAAAAGGAAAGACAAAAACTCCCAACATCAAAAACCCAAGAAAACACATTGGCAGGTTCCACTTTCAATCCTAAGAAAGGAAAGCCAGCCCCCTGGTGGCCACTGAGTCTCCACCACCTGGATGCAGGTCGACCCAGTGGCCTTGGTTGTTTTTTGTTTTTTGAAAAAACACAGTTTCATTGTGGTAAAATAGACAAAACATAATGCTTCTCATTTTAACCATATGGAAACATACAATTCAGTGGCATTCATTATGATCACAGTGCTATGGGCCATCACCACTATCTATCCCCAGAACCTTCTCATCATTCCCAGCAGGAGGTCTATACCCATCCGACAGTAACTCCTTCCCCTCCCCCTGACCATTGTTGGCACTTTGGAAAAGAGTTGCTTTTTTTTTTTTGGACAGCTGATTTTTTAAGATTGAGCCACTAAGGCTTAGGGGAATTTAAGCCTTATATGTTGGCCCGAGTGTTAAGAACTGGGTTCCAGTGTTGGCTCCGCCGTGGCCTGCTGCGTGACTGTAACAGGTTGTTTGACCCCTCTGAGTTTCAAAAACCTCCCCTATGAGGTAAAGGATGCAGCCTGGCTGGGGAGCATGAGCTGGGAAGTCTTTCCACATTGCTTCCCAGACTGGCAGGCTGTTACCAGGCCCTGGATGGAGGCAACACAGCAGACGCACTGGTGGACTTCACGGGTGGTGTTTCTGAGCCCATCGACCTGACCGAGGGTGACTTTGCCAACGATGAGACTAAGAGGAACCAGCTCTTTGAGCGCATGTTAAAGGTGCACAGCCGGGGCGGCCTCATCAGTGCCTCCATCAAGGTGAGAACACGGCAGTCCCCAGAGGCGACCCCTCCCCTTCACCCTCGCTGACTGAGATGGGAGACAACTGTGACATCCCACGCTCAGGTCAGCTCCTACGTATTCAGACCCTCAGCCTCGTGGGGGAGGGGAGAAGTTGGAAGGTGCAACCCCCTGCCCAGACCCTCTAGGCTGTGAAAAGCCTTTCCCGCACTGTTCAACCAAAACTTCTTTTCTGATCCTCTTGGGTTATGAACGTCTGTGCATCTGAGGGTGGTCCTGATTTCATTACTTGCTCGTGTTTTGGATGAGAAAGCTGAGGCCCAGTGAAAGCCAAGTTCAAACCCAACTTTAGCAGACCCTGTGCTGTGCTGGTAAACTGCCTCCAGCAAAGTAAAAAGCCCCGGTTTGTAGCATTTGCTAATTACTGTGGTGTAAATACTCCCACCATGGCTGATTTCCAACTACCCACATTTAACAACCAGCTATTAACAATATTCCTGGCCGGGCATGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAGAAATTGTGGTGAGCCAAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCCAAAAAAAAAACAAAAAACAAAACAATGTTCCTGAATATTTAACAATTCCTGGAATATTTAACAATTTAAATATTCCCGAATATTTAACAACAGCTGAGCCAGTGCACGTGGGCCCCAGCATTCCCCTGGGCTGACCCACTATGGGCACCTTCCTTTACTGAGACTGCTGCCCATGGGGGTTTTAAAGCTCTGTGAACACAGCACTGCCCCATGACTGCAATTCCCATCCCATCCTGTAGGTCCCGTGCAGCCTCCTAGCCCTCCAGCACCTGAGTCCCTGGTCTGGGTTCCAGTGTGGCCCTGCCTCTCTGAGCAACTGTGTCCCTCCACAGGCAGTGACAGCAGCTGACATGGAGGCCCGCCTGGCGTGCGGCCTGGTAAAGGGCCACGCATACGCCGTCACTGATGTGCGCAAGGTGCGCCTGGGCCACGGCCTACTGGCCTTCTTCAAGTCAGAGAAGTTGGACATGATCCGCCTGCGCAACCCCTGGGGCGAGTGGGAGTGGAACGGGCCCTGGAGTGACACGTGAGGCCTGGGGATGGGGGTGCAGGCACAGGGCATGAGGGCTTGGACAAGGACGGGTGGGCTTCTTGGAGGAGTTGGCACTGGGGCTGGGCCTTGAAGGATCTGGGGGAGGATGACACTAGGAACGAAGAAGGGAGAATTACTTTGCAGTGGTTGTATGGGGTGATGGATTGAGCACAAGAAAGGCCTGGGGCTGGAGGCCATCAGGGGTGTAGAGACCAGCTTGGTGAGTGGGTGCGGGAGGGGAGCAGGGAGGGAGGCCACAGCCCTGAGCAAATGGGGGACTCCTCTGTGCTTGGCTTATGGCCCTGGTAAGGCCAAGATGGGAGTGGAGCCCAGGTGCTAAGTGAAGGAGCCCTCTTCACTGGGGGTCGCACCCCCCTTCCCCCCAGTCTGCAGCTTTACTTTCAGACCTCCCAGCCCCTGTCATGGTGGCAGCTCACGGTCCCTTGTGGGAGGAGACAGGCAGGGCTTCCTGGAGAGGGGCTGGGCATGGCCTCAGTGCCCCTGGCCACACCGTGCCGCTGGAGGCCTGGTGCAAGACTGCCCCTCGTGCCTCCTCGCCTTTGCCAGACAGATTCTGGTGGGGCTGCCTCTTAGACAGCTCCCTTTCTCCTCCCCGGCCCTGACACCCCAGCTCGGAGGAGTGGCAGAAAGTGAGCAAGAGTGAGCGGGAGAAGATGGGTGTGACCGTGCAGGACGACGGTGAGTTCTGGTGAGTGTGTATGTGCCCTGGGCGTCCGGGGCTGAGGGGGCTTCCCACGGGCCTGGCGGGGAGCACCAGGTGGGGAGTCAGGAGCCAGGCCTCTCCTGCATGCCCCATCATCAATTTGCTGTGTGGCCTTGGACAAGTCACACCATCTCAGAGCCTGTTTCCTCCTCTGTAAAATTAGTTGGGCAGTACCAGGCCCTTTCATCCCCACAGTCCCCTCTGCCGAACTGAGGGGTCCTGGAGCCGCTGTGGCACCCAGACCGAGCCTTTGGCATGCAGGTCAGGGAGCCGTCTAAGAGGTGGGCCCACCAGGATCTCCCCGGCAAGGGTAAGGAGGCATGAAGCACAGTCCAGCACCAGCAGTATGGTGTGGCCAGGGGCACTGGGGCTATGCCCAGCCCCTCTCCAGGAAGCCCTGCCCTCAGCCTGCCTCCAGGGGCCCTCTGGCAGCCTGATTTCTGAAATTAGGTAGCAGAGGCTCCTAGAGGAACTAGCTTCTAAGCTGAGACTTGAGGTACAGAGTAGGCCTTGGTGGGCAAGGAAGAGGACGTGGCTCAGAGGTGAGAGAACACAGCTGTGTTTGAGAAGGGAGCTAAGCAGGTACATGGGTGAGCTGGGAAGATGACAGCAGCTCAGCTTAAAGAGCCCAGTAATTGGCTGGGTACAGTGGCTCATGTCTATAATCCCAGCACTTTGGGAGGTCAAGGTAGAAGGATTGCTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCAGCATAGTGGGACCCCATCTCTACAAAAATGAAAAATTAGCTGGGTGTGATGATGTACCCCTGTAGTCTCAGCTACTCTAGAGGCTGAGAGGGGAGGATTGCTTGAGCCCAGGAGGTTGAGTTTATAGTGAGCCATGATCGCACCACTGCACTCCATCCTGGGCTAAAGAGCAAGACCCTGTTTCAAAAACAAAAAGAAAAACCCCAGTAGTAATAAAAGTTCATCCTGCATTCATCCAGCCTGCATGAGTCCTGAATGTGGGCTAGGCTCAGTGTCACCCTTCAGCAGAACCTGATATGGAAACTCAGTCCCTTCCTGGAGGGGTATTGGCATCCTGTGTGTGCTGGATTCTGTCAGGGCCCCCAGGCAGACTGGGGGCAGATGGCAGTGGTCCTGGCACCCAATGATGAACCCTTCTGCAGGTGTCAGGTCAGCTGCTGCAGGAGGCCACCCAGGCCACTTTGCCAGTCTTGCTCAGGAGTCAGCAGATAAAAACACGGCAGAGCTCCTTGCCTTTAGAAAGAGTTTCTTCCAAAGGCCTTTCTCTTACATGTTC
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Task1_train_16297
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Mutation context: Chromosome 11, Gene CAPN5 (calpain 5). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Proliferative vitreoretinopathy
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CCTGCTAGGCCCATTTGTCAATCTTGCTGAAAAAATGTGTGTGTAGGGGCAGGAGCAAGGAGAGAGAGAGATAGAAAACAAGAGAAAGGGGGAGAGAGGAAAAGGAAAGACAAAAACTCCCAACATCAAAAACCCAAGAAAACACATTGGCAGGTTCCACTTTCAATCCTAAGAAAGGAAAGCCAGCCCCCTGGTGGCCACTGAGTCTCCACCACCTGGATGCAGGTCGACCCAGTGGCCTTGGTTGTTTTTTGTTTTTTGAAAAAACACAGTTTCATTGTGGTAAAATAGACAAAACATAATGCTTCTCATTTTAACCATATGGAAACATACAATTCAGTGGCATTCATTATGATCACAGTGCTATGGGCCATCACCACTATCTATCCCCAGAACCTTCTCATCATTCCCAGCAGGAGGTCTATACCCATCCGACAGTAACTCCTTCCCCTCCCCCTGACCATTGTTGGCACTTTGGAAAAGAGTTGCTTTTTTTTTTTTGGACAGCTGATTTTTTAAGATTGAGCCACTAAGGCTTAGGGGAATTTAAGCCTTATATGTTGGCCCGAGTGTTAAGAACTGGGTTCCAGTGTTGGCTCCGCCGTGGCCTGCTGCGTGACTGTAACAGGTTGTTTGACCCCTCTGAGTTTCAAAAACCTCCCCTATGAGGTAAAGGATGCAGCCTGGCTGGGGAGCATGAGCTGGGAAGTCTTTCCACATTGCTTCCCAGACTGGCAGGCTGTTACCAGGCCCTGGATGGAGGCAACACAGCAGACGCACTGGTGGACTTCACGGGTGGTGTTTCTGAGCCCATCGACCTGACCGAGGGTGACTTTGCCAACGATGAGACTAAGAGGAACCAGCTCTTTGAGCGCATGTTAAAGGTGCACAGCCGGGGCGGCCTCATCAGTGCCTCCATCAAGGTGAGAACACGGCAGTCCCCAGAGGCGACCCCTCCCCTTCACCCTCGCTGACTGAGATGGGAGACAACTGTGACATCCCACGCTCAGGTCAGCTCCTACGTATTCAGACCCTCAGCCTCGTGGGGGAGGGGAGAAGTTGGAAGGTGCAACCCCCTGCCCAGACCCTCTAGGCTGTGAAAAGCCTTTCCCGCACTGTTCAACCAAAACTTCTTTTCTGATCCTCTTGGGTTATGAACGTCTGTGCATCTGAGGGTGGTCCTGATTTCATTACTTGCTCGTGTTTTGGATGAGAAAGCTGAGGCCCAGTGAAAGCCAAGTTCAAACCCAACTTTAGCAGACCCTGTGCTGTGCTGGTAAACTGCCTCCAGCAAAGTAAAAAGCCCCGGTTTGTAGCATTTGCTAATTACTGTGGTGTAAATACTCCCACCATGGCTGATTTCCAACTACCCACATTTAACAACCAGCTATTAACAATATTCCTGGCCGGGCATGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAGAAATTGTGGTGAGCCAAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCCAAAAAAAAAACAAAAAACAAAACAATGTTCCTGAATATTTAACAATTCCTGGAATATTTAACAATTTAAATATTCCCGAATATTTAACAACAGCTGAGCCAGTGCACGTGGGCCCCAGCATTCCCCTGGGCTGACCCACTATGGGCACCTTCCTTTACTGAGACTGCTGCCCATGGGGGTTTTAAAGCTCTGTGAACACAGCACTGCCCCATGACTGCAATTCCCATCCCATCCTGTAGGTCCCGTGCAGCCTCCTAGCCCTCCAGCACCTGAGTCCCTGGTCTGGGTTCCAGTGTGGCCCTGCCTCTCTGAGCAACTGTGTCCCTCCACAGGCAGTGACAGCAGCTGACATGGAGGCCCGCCTGGCGTGCGGCCTGGTAAAGGGCCACGCATACGCCGTCACTGATGTGCGCAAGGTGCGCCTGGGCCACGGCCTACTGGCCTTCTTCAAGTCAGAGAAGTTGGACATGATCCGCCTGCGCAACCCCTGGGGCGAGCGGGAGTGGAACGGGCCCTGGAGTGACACGTGAGGCCTGGGGATGGGGGTGCAGGCACAGGGCATGAGGGCTTGGACAAGGACGGGTGGGCTTCTTGGAGGAGTTGGCACTGGGGCTGGGCCTTGAAGGATCTGGGGGAGGATGACACTAGGAACGAAGAAGGGAGAATTACTTTGCAGTGGTTGTATGGGGTGATGGATTGAGCACAAGAAAGGCCTGGGGCTGGAGGCCATCAGGGGTGTAGAGACCAGCTTGGTGAGTGGGTGCGGGAGGGGAGCAGGGAGGGAGGCCACAGCCCTGAGCAAATGGGGGACTCCTCTGTGCTTGGCTTATGGCCCTGGTAAGGCCAAGATGGGAGTGGAGCCCAGGTGCTAAGTGAAGGAGCCCTCTTCACTGGGGGTCGCACCCCCCTTCCCCCCAGTCTGCAGCTTTACTTTCAGACCTCCCAGCCCCTGTCATGGTGGCAGCTCACGGTCCCTTGTGGGAGGAGACAGGCAGGGCTTCCTGGAGAGGGGCTGGGCATGGCCTCAGTGCCCCTGGCCACACCGTGCCGCTGGAGGCCTGGTGCAAGACTGCCCCTCGTGCCTCCTCGCCTTTGCCAGACAGATTCTGGTGGGGCTGCCTCTTAGACAGCTCCCTTTCTCCTCCCCGGCCCTGACACCCCAGCTCGGAGGAGTGGCAGAAAGTGAGCAAGAGTGAGCGGGAGAAGATGGGTGTGACCGTGCAGGACGACGGTGAGTTCTGGTGAGTGTGTATGTGCCCTGGGCGTCCGGGGCTGAGGGGGCTTCCCACGGGCCTGGCGGGGAGCACCAGGTGGGGAGTCAGGAGCCAGGCCTCTCCTGCATGCCCCATCATCAATTTGCTGTGTGGCCTTGGACAAGTCACACCATCTCAGAGCCTGTTTCCTCCTCTGTAAAATTAGTTGGGCAGTACCAGGCCCTTTCATCCCCACAGTCCCCTCTGCCGAACTGAGGGGTCCTGGAGCCGCTGTGGCACCCAGACCGAGCCTTTGGCATGCAGGTCAGGGAGCCGTCTAAGAGGTGGGCCCACCAGGATCTCCCCGGCAAGGGTAAGGAGGCATGAAGCACAGTCCAGCACCAGCAGTATGGTGTGGCCAGGGGCACTGGGGCTATGCCCAGCCCCTCTCCAGGAAGCCCTGCCCTCAGCCTGCCTCCAGGGGCCCTCTGGCAGCCTGATTTCTGAAATTAGGTAGCAGAGGCTCCTAGAGGAACTAGCTTCTAAGCTGAGACTTGAGGTACAGAGTAGGCCTTGGTGGGCAAGGAAGAGGACGTGGCTCAGAGGTGAGAGAACACAGCTGTGTTTGAGAAGGGAGCTAAGCAGGTACATGGGTGAGCTGGGAAGATGACAGCAGCTCAGCTTAAAGAGCCCAGTAATTGGCTGGGTACAGTGGCTCATGTCTATAATCCCAGCACTTTGGGAGGTCAAGGTAGAAGGATTGCTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCAGCATAGTGGGACCCCATCTCTACAAAAATGAAAAATTAGCTGGGTGTGATGATGTACCCCTGTAGTCTCAGCTACTCTAGAGGCTGAGAGGGGAGGATTGCTTGAGCCCAGGAGGTTGAGTTTATAGTGAGCCATGATCGCACCACTGCACTCCATCCTGGGCTAAAGAGCAAGACCCTGTTTCAAAAACAAAAAGAAAAACCCCAGTAGTAATAAAAGTTCATCCTGCATTCATCCAGCCTGCATGAGTCCTGAATGTGGGCTAGGCTCAGTGTCACCCTTCAGCAGAACCTGATATGGAAACTCAGTCCCTTCCTGGAGGGGTATTGGCATCCTGTGTGTGCTGGATTCTGTCAGGGCCCCCAGGCAGACTGGGGGCAGATGGCAGTGGTCCTGGCACCCAATGATGAACCCTTCTGCAGGTGTCAGGTCAGCTGCTGCAGGAGGCCACCCAGGCCACTTTGCCAGTCTTGCTCAGGAGTCAGCAGATAAAAACACGGCAGAGCTCCTTGCCTTTAGAAAGAGTTTCTTCCAAAGGCCTTTCTCTTACATGTTC
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CCTGCTAGGCCCATTTGTCAATCTTGCTGAAAAAATGTGTGTGTAGGGGCAGGAGCAAGGAGAGAGAGAGATAGAAAACAAGAGAAAGGGGGAGAGAGGAAAAGGAAAGACAAAAACTCCCAACATCAAAAACCCAAGAAAACACATTGGCAGGTTCCACTTTCAATCCTAAGAAAGGAAAGCCAGCCCCCTGGTGGCCACTGAGTCTCCACCACCTGGATGCAGGTCGACCCAGTGGCCTTGGTTGTTTTTTGTTTTTTGAAAAAACACAGTTTCATTGTGGTAAAATAGACAAAACATAATGCTTCTCATTTTAACCATATGGAAACATACAATTCAGTGGCATTCATTATGATCACAGTGCTATGGGCCATCACCACTATCTATCCCCAGAACCTTCTCATCATTCCCAGCAGGAGGTCTATACCCATCCGACAGTAACTCCTTCCCCTCCCCCTGACCATTGTTGGCACTTTGGAAAAGAGTTGCTTTTTTTTTTTTGGACAGCTGATTTTTTAAGATTGAGCCACTAAGGCTTAGGGGAATTTAAGCCTTATATGTTGGCCCGAGTGTTAAGAACTGGGTTCCAGTGTTGGCTCCGCCGTGGCCTGCTGCGTGACTGTAACAGGTTGTTTGACCCCTCTGAGTTTCAAAAACCTCCCCTATGAGGTAAAGGATGCAGCCTGGCTGGGGAGCATGAGCTGGGAAGTCTTTCCACATTGCTTCCCAGACTGGCAGGCTGTTACCAGGCCCTGGATGGAGGCAACACAGCAGACGCACTGGTGGACTTCACGGGTGGTGTTTCTGAGCCCATCGACCTGACCGAGGGTGACTTTGCCAACGATGAGACTAAGAGGAACCAGCTCTTTGAGCGCATGTTAAAGGTGCACAGCCGGGGCGGCCTCATCAGTGCCTCCATCAAGGTGAGAACACGGCAGTCCCCAGAGGCGACCCCTCCCCTTCACCCTCGCTGACTGAGATGGGAGACAACTGTGACATCCCACGCTCAGGTCAGCTCCTACGTATTCAGACCCTCAGCCTCGTGGGGGAGGGGAGAAGTTGGAAGGTGCAACCCCCTGCCCAGACCCTCTAGGCTGTGAAAAGCCTTTCCCGCACTGTTCAACCAAAACTTCTTTTCTGATCCTCTTGGGTTATGAACGTCTGTGCATCTGAGGGTGGTCCTGATTTCATTACTTGCTCGTGTTTTGGATGAGAAAGCTGAGGCCCAGTGAAAGCCAAGTTCAAACCCAACTTTAGCAGACCCTGTGCTGTGCTGGTAAACTGCCTCCAGCAAAGTAAAAAGCCCCGGTTTGTAGCATTTGCTAATTACTGTGGTGTAAATACTCCCACCATGGCTGATTTCCAACTACCCACATTTAACAACCAGCTATTAACAATATTCCTGGCCGGGCATGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAGAAATTGTGGTGAGCCAAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCCAAAAAAAAAACAAAAAACAAAACAATGTTCCTGAATATTTAACAATTCCTGGAATATTTAACAATTTAAATATTCCCGAATATTTAACAACAGCTGAGCCAGTGCACGTGGGCCCCAGCATTCCCCTGGGCTGACCCACTATGGGCACCTTCCTTTACTGAGACTGCTGCCCATGGGGGTTTTAAAGCTCTGTGAACACAGCACTGCCCCATGACTGCAATTCCCATCCCATCCTGTAGGTCCCGTGCAGCCTCCTAGCCCTCCAGCACCTGAGTCCCTGGTCTGGGTTCCAGTGTGGCCCTGCCTCTCTGAGCAACTGTGTCCCTCCACAGGCAGTGACAGCAGCTGACATGGAGGCCCGCCTGGCGTGCGGCCTGGTAAAGGGCCACGCATACGCCGTCACTGATGTGCGCAAGGTGCGCCTGGGCCACGGCCTACTGGCCTTCTTCAAGTCAGAGAAGTTGGACATGATCCGCCTGCGCAACCCCTGGGGCGAGTGGGAGTGGAACGGGCCCTGGAGTGACACGTGAGGCCTGGGGATGGGGGTGCAGGCACAGGGCATGAGGGCTTGGACAAGGACGGGTGGGCTTCTTGGAGGAGTTGGCACTGGGGCTGGGCCTTGAAGGATCTGGGGGAGGATGACACTAGGAACGAAGAAGGGAGAATTACTTTGCAGTGGTTGTATGGGGTGATGGATTGAGCACAAGAAAGGCCTGGGGCTGGAGGCCATCAGGGGTGTAGAGACCAGCTTGGTGAGTGGGTGCGGGAGGGGAGCAGGGAGGGAGGCCACAGCCCTGAGCAAATGGGGGACTCCTCTGTGCTTGGCTTATGGCCCTGGTAAGGCCAAGATGGGAGTGGAGCCCAGGTGCTAAGTGAAGGAGCCCTCTTCACTGGGGGTCGCACCCCCCTTCCCCCCAGTCTGCAGCTTTACTTTCAGACCTCCCAGCCCCTGTCATGGTGGCAGCTCACGGTCCCTTGTGGGAGGAGACAGGCAGGGCTTCCTGGAGAGGGGCTGGGCATGGCCTCAGTGCCCCTGGCCACACCGTGCCGCTGGAGGCCTGGTGCAAGACTGCCCCTCGTGCCTCCTCGCCTTTGCCAGACAGATTCTGGTGGGGCTGCCTCTTAGACAGCTCCCTTTCTCCTCCCCGGCCCTGACACCCCAGCTCGGAGGAGTGGCAGAAAGTGAGCAAGAGTGAGCGGGAGAAGATGGGTGTGACCGTGCAGGACGACGGTGAGTTCTGGTGAGTGTGTATGTGCCCTGGGCGTCCGGGGCTGAGGGGGCTTCCCACGGGCCTGGCGGGGAGCACCAGGTGGGGAGTCAGGAGCCAGGCCTCTCCTGCATGCCCCATCATCAATTTGCTGTGTGGCCTTGGACAAGTCACACCATCTCAGAGCCTGTTTCCTCCTCTGTAAAATTAGTTGGGCAGTACCAGGCCCTTTCATCCCCACAGTCCCCTCTGCCGAACTGAGGGGTCCTGGAGCCGCTGTGGCACCCAGACCGAGCCTTTGGCATGCAGGTCAGGGAGCCGTCTAAGAGGTGGGCCCACCAGGATCTCCCCGGCAAGGGTAAGGAGGCATGAAGCACAGTCCAGCACCAGCAGTATGGTGTGGCCAGGGGCACTGGGGCTATGCCCAGCCCCTCTCCAGGAAGCCCTGCCCTCAGCCTGCCTCCAGGGGCCCTCTGGCAGCCTGATTTCTGAAATTAGGTAGCAGAGGCTCCTAGAGGAACTAGCTTCTAAGCTGAGACTTGAGGTACAGAGTAGGCCTTGGTGGGCAAGGAAGAGGACGTGGCTCAGAGGTGAGAGAACACAGCTGTGTTTGAGAAGGGAGCTAAGCAGGTACATGGGTGAGCTGGGAAGATGACAGCAGCTCAGCTTAAAGAGCCCAGTAATTGGCTGGGTACAGTGGCTCATGTCTATAATCCCAGCACTTTGGGAGGTCAAGGTAGAAGGATTGCTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCAGCATAGTGGGACCCCATCTCTACAAAAATGAAAAATTAGCTGGGTGTGATGATGTACCCCTGTAGTCTCAGCTACTCTAGAGGCTGAGAGGGGAGGATTGCTTGAGCCCAGGAGGTTGAGTTTATAGTGAGCCATGATCGCACCACTGCACTCCATCCTGGGCTAAAGAGCAAGACCCTGTTTCAAAAACAAAAAGAAAAACCCCAGTAGTAATAAAAGTTCATCCTGCATTCATCCAGCCTGCATGAGTCCTGAATGTGGGCTAGGCTCAGTGTCACCCTTCAGCAGAACCTGATATGGAAACTCAGTCCCTTCCTGGAGGGGTATTGGCATCCTGTGTGTGCTGGATTCTGTCAGGGCCCCCAGGCAGACTGGGGGCAGATGGCAGTGGTCCTGGCACCCAATGATGAACCCTTCTGCAGGTGTCAGGTCAGCTGCTGCAGGAGGCCACCCAGGCCACTTTGCCAGTCTTGCTCAGGAGTCAGCAGATAAAAACACGGCAGAGCTCCTTGCCTTTAGAAAGAGTTTCTTCCAAAGGCCTTTCTCTTACATGTTC
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Task1_train_16298
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Mutation context: Chromosome 11, Gene MYO7A (myosin VIIA). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Inborn genetic diseases
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GCTGTCAGGGGTAAGCCCAGGGTCAGGGAGTGCAGCTGGGGCTTGGACACAAGCAGCTGTGAGGATTATATGGGGCAGTTTACGGGATGCAGCCTGTGGAGCCCAGGCCCACAGTGAATGCTCAGTAAACAGTTCTCTTCCACGCCCAAGCCTCTCCAATTTTTCTTACTTTTTCTGGGAGGAAGTTTGGGTTTGGGACTAGCCTGACTCTATCATGTGCCAACCTCCCATTCACATGAAGAGAGGGTCCACAGGGGCAGCTGTGGCTGGAAAATAGCACATAGATGGCAGTGGTCCCATAAGACTATAATGCCATATTTTACTGTACCTTTTATGTGTATGTTTAGATATGTTTACATACACAAATACACACTATGGATTATGACTGCCTATAGTATTCAGTACAGTAGCAGGTTGTACAGGTTTGTAGTGTAGGAGCAAGAGGCTACCCCATCCAGCCTAGGTGTGTAGTGGGCTGTACCATCTAGGTTTGTGAAGTACACTCGATGACTTCATATGTTTGCATAGAACTTATCTCTGACATTAACAATGCATGACTGTAGCTGGTTCTGATGGGAACAAGAGGAGGCTGAAACAGTAATGAGTTGGTCTTGGACTCACTGAGTTCAGCCTTCACTGAGAAATGTGGAAATTGAGGCTCAGAGAGGTCAGCGACTCACCCAAGGCCGGGTAGGGCCTGAAACCCAGTCTTCTGACTCCTAGCCCAGAACAGATTCTGTCAGACCATTACCACGGTTTACTTCATTGTGAATCAGTTTTATAAGTTGTTACATTTTTTTTTACTTGATATTAAGTTATATTCTTATTAGAATGTCCCAACTCCTAGGGAGTTGGAGTACCACCCAAAAAAGAATACTTTTATTAGGATTAGAATAAAATCTAAGCTTGTATCCCAAGGCCAGCAAAGGGCCTATGTGTCCTGGACCCTGCCTACTTCTCTGAGCTCCCTCTCGCCCATCAGGTCCTACCTCCTGGCTGTTCCTTTCTGCCGCAGGGCCTTTGCATGTGCTGTTTCCTATGCTGGGATTACTGTCCCCTGCTTTTCCCTTGGCTGACTGCTTGTCACCCTTCAGGTGTCAGCTCAGCGATTCCCTCCATGGAGCGGCTCCATTGGCTACTGGGTCTAGGTTGGTTGGCTCTGTCATTCTCCACCATTGGCTTGTTTGTTTCCTTGACAGCACTCACCAGTATCCAAAGTGATCGTGCTGATCTATTTGCTCAGTTTTTTGTCACCACCTCTAACTAGAACGTAGACTCCATAATCACTGCTCAACCCCCAGCATTTAGATTAATCAGTGCTTTGCACTCAGTAGGTAATCAATACATGTTTGTTGAATCCATCAGTGCTGAATGTGGTTGTTCTTAGTCCATTTCTCTGACTTGGGATTTTACGTTTGGCTCTCACGATCCCTTGCTGAATGAGTAGTGCGAGTCAGGCCCTGGGCCAGATGCCGCAGGGGACACAAAGCGACATCCTCCCCCAGGATCAGGGCTCTCTCCACATGCCAGAAGACAATGTGGCTGAACCCTTCTCTAGTGCCCAGCACGGAGTGGTGTCCCTGTGAGGAACCTGTCATAATGATGATAAAAATCAGCCCTGGAGGTGAAGGAGGCTGCAGCATTCACCCACTGTCTGGGTGTCCTGTGGTGTCATGTTAGAGAGGAAGTGGTTTGAGTGGTCTGGTGTTTCTGTCTAGACCCCAGTGAATCTGTCATACACATGTAGGGTGTAGATCCATGGGGAGAGCTGGGCTTTGAGAGGCCTTGGCTCTCTCTGAGCCTCTGCTAAGTCATCCATAAAATGGGAATATGGCTGTTCTAGAGGGGGGATTGATGAGATTGCATAAATGCCCAGCCCAGGGCCTGCACTGCTCCAGAAGGTTGCTAGTAAGTGTGAGTCCCCTTCTCTTCCCCCTTGTGTGGTTGGCTCAGAGCCTCTGATTGTAGCAGAGGGATATAGGGCTGCCTGGAAGGGGCTCCAATCCCCCTCCCTGCTCACCTGGGCTGAGACTCTCTCTCGCCCATAGGGGGACCATGTGTGGATGGACCTGAGATTGGGGCAGGAGTTCGACGTGCCCATCGGGGCGGTGGTGAAGCTCTGCGACTCTGGGCAGGTCCAGGTGGTGGATGATGAAGACAATGTGAGTAGTCCCCTCCCTCCTCCTGCCCCATGCCTTGGGGTCAGACCTGGGCTGACAGCTGCCTTGATGCAGGGAGATGATCGAAAGGAGATGGAGGCCATGCCCATGCCCCCACTTCTGCCTCTCAGATGCCCCCTTCCATGAGCTTTCCCCAGCACCCCAACAAGAGGGAACCCCTGCCTGCCTCAGGCTACTTGTTCTGTTTCCACAAGCACTTCAGTCCACTCTGCATGGTGTTAGAGATGTGTGTGTGTGTGGTGGGGTTTGAGTGCAGGGGGAGCAGGCTAGGAGCTCCTCAGACACAGAGGTGCTTTGGGGGCAGACTGCATTCAAATCCTATCTCGTCCATTTGTTAGCTGCGCAAACTTGGCCTAGTCTCCTTCCCTCCTGACCCTCAGTTTCCTCTTTGTAAAATGAGGATAATAATACGTATCTCACAGGGCTGTTGACCCATACATGAGATCACACGTGCAGAACACCTCAGTGAAGTTAGTGCTAGTCTGAAAGTTAAATGAACGTCCACAGCCTCACTGTGTTGGGTTACTGACATCACATGAATCCACTGTCCACCTTGACACTGCTCTGGAAATTGGTCTCACAGATTAACCCTTTATCTGTGGCCCAGAAGGAAAGGGACCCCAGAAGTGTAAGTTTTCTAGGTAATGATAGTGGGGCCTTGGGGAGGGAAGGAGAGGTCTGAAGTCAGGGGCCTGCCCCGGAGAAGGTGGCTGGTTCACGTGAGGGCCCGGAGGGGAAGCCCTGGGGCCTCTGAGCATGCGTGCACATGTGTGTGTCACTGGGGGTATGCAGATGGGGTGCAGAGCACACAGGGGCAGCTTAGCAGGGATATGAAGAATCCAGGGAGATTCAGCTCTGCCATAATGTGGGCTGTGCCCTGCGGTGTGCCAGGGGCTGGGACACAGAATTGGACTGAGTCCCTCTTAGCCTCCTGGTCTGAGGGAGGAGAGTCAGGAGAAAGAGGGTGCAGGGACTTGAAACTGAGGCTCTGCTGGGGACGACGGGAGGGCTCAGGACCCTCGAGGCCAGGTGCTTGACAAGGAGTGGGCAGGAGCATCCCAGATATTCCTGCAGCCCTCAGGTGCATCCCCTCAGAGTTTGCAAGACCCTTTAACCCAAGTTCTGTCTTTGGACTCTCATGGCATCTGTGGAAGGCAGGGAGGGAAAGAATTGTCATCCCATGAGGAAACTGAGGCACATAGAGGGACCACACAGCCAGTCACACAGCTAGTAAGTGATGGTGCTGGGATTAGAACCCAGGACCTCTGTCTTCTATGCATGAGTTTCCCCTGTCAGCATTATCTCAGCGGCGACTTTGGAGCTCAGATTCTGCTAATCACATTTTTGGCCCTTGGGCCGTAGAACCCAAGGCCTGCAATATCATTCCAGAGGCTCCAGTTCTAGGACCCTCTAGGAACCTACTATGAGGGTGCAGCCACAGAAGGGGAGGCACAGGCTGGGTGGCAGCATAGACGGGCCTGCTAACCTGCCCAGAGCCCCCAGGGTGGGGACCAGGGACTCTGTCTGCAGGCTTGAGTTTCACCTGGGTCATGTTGCATGTCAGATGGTGTCCCGTAACTGCGTCACCGAATCCCAAAGGTCCCCTCCCGCTTCTCCTCCACCCAGGCCCTGAGAGTGGGGGCTGCAGGAGGGGTGGGCATGACTGGCTGGCAGGGGCAGTTCGGGAGGCTGGGGTTTGCATCTGTGGCATTGGACCCCCAGGGCTTCCAGACCGCTCCTTCACAAGCCTTTCCCACCCCCATTCCATCCCCTCCCTCCCAACTCCAGGCTGTCATCTCTTACCCCTCTGTCTGCCCACAGACTCCTAGCAACTTGAGAGCAGGGAACAGGCCAGTCCCATCTGGTTCCCCAGAGTTCATCAAGGGGTCTGCCCAGGGAAGGCTCTTGGCAAAGAC
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GCTGTCAGGGGTAAGCCCAGGGTCAGGGAGTGCAGCTGGGGCTTGGACACAAGCAGCTGTGAGGATTATATGGGGCAGTTTACGGGATGCAGCCTGTGGAGCCCAGGCCCACAGTGAATGCTCAGTAAACAGTTCTCTTCCACGCCCAAGCCTCTCCAATTTTTCTTACTTTTTCTGGGAGGAAGTTTGGGTTTGGGACTAGCCTGACTCTATCATGTGCCAACCTCCCATTCACATGAAGAGAGGGTCCACAGGGGCAGCTGTGGCTGGAAAATAGCACATAGATGGCAGTGGTCCCATAAGACTATAATGCCATATTTTACTGTACCTTTTATGTGTATGTTTAGATATGTTTACATACACAAATACACACTATGGATTATGACTGCCTATAGTATTCAGTACAGTAGCAGGTTGTACAGGTTTGTAGTGTAGGAGCAAGAGGCTACCCCATCCAGCCTAGGTGTGTAGTGGGCTGTACCATCTAGGTTTGTGAAGTACACTCGATGACTTCATATGTTTGCATAGAACTTATCTCTGACATTAACAATGCATGACTGTAGCTGGTTCTGATGGGAACAAGAGGAGGCTGAAACAGTAATGAGTTGGTCTTGGACTCACTGAGTTCAGCCTTCACTGAGAAATGTGGAAATTGAGGCTCAGAGAGGTCAGCGACTCACCCAAGGCCGGGTAGGGCCTGAAACCCAGTCTTCTGACTCCTAGCCCAGAACAGATTCTGTCAGACCATTACCACGGTTTACTTCATTGTGAATCAGTTTTATAAGTTGTTACATTTTTTTTTACTTGATATTAAGTTATATTCTTATTAGAATGTCCCAACTCCTAGGGAGTTGGAGTACCACCCAAAAAAGAATACTTTTATTAGGATTAGAATAAAATCTAAGCTTGTATCCCAAGGCCAGCAAAGGGCCTATGTGTCCTGGACCCTGCCTACTTCTCTGAGCTCCCTCTCGCCCATCAGGTCCTACCTCCTGGCTGTTCCTTTCTGCCGCAGGGCCTTTGCATGTGCTGTTTCCTATGCTGGGATTACTGTCCCCTGCTTTTCCCTTGGCTGACTGCTTGTCACCCTTCAGGTGTCAGCTCAGCGATTCCCTCCATGGAGCGGCTCCATTGGCTACTGGGTCTAGGTTGGTTGGCTCTGTCATTCTCCACCATTGGCTTGTTTGTTTCCTTGACAGCACTCACCAGTATCCAAAGTGATCGTGCTGATCTATTTGCTCAGTTTTTTGTCACCACCTCTAACTAGAACGTAGACTCCATAATCACTGCTCAACCCCCAGCATTTAGATTAATCAGTGCTTTGCACTCAGTAGGTAATCAATACATGTTTGTTGAATCCATCAGTGCTGAATGTGGTTGTTCTTAGTCCATTTCTCTGACTTGGGATTTTACGTTTGGCTCTCACGATCCCTTGCTGAATGAGTAGTGCGAGTCAGGCCCTGGGCCAGATGCCGCAGGGGACACAAAGCGACATCCTCCCCCAGGATCAGGGCTCTCTCCACATGCCAGAAGACAATGTGGCTGAACCCTTCTCTAGTGCCCAGCACGGAGTGGTGTCCCTGTGAGGAACCTGTCATAATGATGATAAAAATCAGCCCTGGAGGTGAAGGAGGCTGCAGCATTCACCCACTGTCTGGGTGTCCTGTGGTGTCATGTTAGAGAGGAAGTGGTTTGAGTGGTCTGGTGTTTCTGTCTAGACCCCAGTGAATCTGTCATACACATGTAGGGTGTAGATCCATGGGGAGAGCTGGGCTTTGAGAGGCCTTGGCTCTCTCTGAGCCTCTGCTAAGTCATCCATAAAATGGGAATATGGCTGTTCTAGAGGGGGGATTGATGAGATTGCATAAATGCCCAGCCCAGGGCCTGCACTGCTCCAGAAGGTTGCTAGTAAGTGTGAGTCCCCTTCTCTTCCCCCTTGTGTGGTTGGCTCAGAGCCTCTGATTGTAGCAGAGGGATATAGGGCTGCCTGGAAGGGGCTCCAATCCCCCTCCCTGCTCACCTGGGCTGAGACTCTCTCTCGCCCATAGCGGGACCATGTGTGGATGGACCTGAGATTGGGGCAGGAGTTCGACGTGCCCATCGGGGCGGTGGTGAAGCTCTGCGACTCTGGGCAGGTCCAGGTGGTGGATGATGAAGACAATGTGAGTAGTCCCCTCCCTCCTCCTGCCCCATGCCTTGGGGTCAGACCTGGGCTGACAGCTGCCTTGATGCAGGGAGATGATCGAAAGGAGATGGAGGCCATGCCCATGCCCCCACTTCTGCCTCTCAGATGCCCCCTTCCATGAGCTTTCCCCAGCACCCCAACAAGAGGGAACCCCTGCCTGCCTCAGGCTACTTGTTCTGTTTCCACAAGCACTTCAGTCCACTCTGCATGGTGTTAGAGATGTGTGTGTGTGTGGTGGGGTTTGAGTGCAGGGGGAGCAGGCTAGGAGCTCCTCAGACACAGAGGTGCTTTGGGGGCAGACTGCATTCAAATCCTATCTCGTCCATTTGTTAGCTGCGCAAACTTGGCCTAGTCTCCTTCCCTCCTGACCCTCAGTTTCCTCTTTGTAAAATGAGGATAATAATACGTATCTCACAGGGCTGTTGACCCATACATGAGATCACACGTGCAGAACACCTCAGTGAAGTTAGTGCTAGTCTGAAAGTTAAATGAACGTCCACAGCCTCACTGTGTTGGGTTACTGACATCACATGAATCCACTGTCCACCTTGACACTGCTCTGGAAATTGGTCTCACAGATTAACCCTTTATCTGTGGCCCAGAAGGAAAGGGACCCCAGAAGTGTAAGTTTTCTAGGTAATGATAGTGGGGCCTTGGGGAGGGAAGGAGAGGTCTGAAGTCAGGGGCCTGCCCCGGAGAAGGTGGCTGGTTCACGTGAGGGCCCGGAGGGGAAGCCCTGGGGCCTCTGAGCATGCGTGCACATGTGTGTGTCACTGGGGGTATGCAGATGGGGTGCAGAGCACACAGGGGCAGCTTAGCAGGGATATGAAGAATCCAGGGAGATTCAGCTCTGCCATAATGTGGGCTGTGCCCTGCGGTGTGCCAGGGGCTGGGACACAGAATTGGACTGAGTCCCTCTTAGCCTCCTGGTCTGAGGGAGGAGAGTCAGGAGAAAGAGGGTGCAGGGACTTGAAACTGAGGCTCTGCTGGGGACGACGGGAGGGCTCAGGACCCTCGAGGCCAGGTGCTTGACAAGGAGTGGGCAGGAGCATCCCAGATATTCCTGCAGCCCTCAGGTGCATCCCCTCAGAGTTTGCAAGACCCTTTAACCCAAGTTCTGTCTTTGGACTCTCATGGCATCTGTGGAAGGCAGGGAGGGAAAGAATTGTCATCCCATGAGGAAACTGAGGCACATAGAGGGACCACACAGCCAGTCACACAGCTAGTAAGTGATGGTGCTGGGATTAGAACCCAGGACCTCTGTCTTCTATGCATGAGTTTCCCCTGTCAGCATTATCTCAGCGGCGACTTTGGAGCTCAGATTCTGCTAATCACATTTTTGGCCCTTGGGCCGTAGAACCCAAGGCCTGCAATATCATTCCAGAGGCTCCAGTTCTAGGACCCTCTAGGAACCTACTATGAGGGTGCAGCCACAGAAGGGGAGGCACAGGCTGGGTGGCAGCATAGACGGGCCTGCTAACCTGCCCAGAGCCCCCAGGGTGGGGACCAGGGACTCTGTCTGCAGGCTTGAGTTTCACCTGGGTCATGTTGCATGTCAGATGGTGTCCCGTAACTGCGTCACCGAATCCCAAAGGTCCCCTCCCGCTTCTCCTCCACCCAGGCCCTGAGAGTGGGGGCTGCAGGAGGGGTGGGCATGACTGGCTGGCAGGGGCAGTTCGGGAGGCTGGGGTTTGCATCTGTGGCATTGGACCCCCAGGGCTTCCAGACCGCTCCTTCACAAGCCTTTCCCACCCCCATTCCATCCCCTCCCTCCCAACTCCAGGCTGTCATCTCTTACCCCTCTGTCTGCCCACAGACTCCTAGCAACTTGAGAGCAGGGAACAGGCCAGTCCCATCTGGTTCCCCAGAGTTCATCAAGGGGTCTGCCCAGGGAAGGCTCTTGGCAAAGAC
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Task1_train_16299
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The gene MYO7A (myosin VIIA), on Chromosome 11, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Autosomal recessive nonsyndromic hearing loss 2
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CTGTCAGGGGTAAGCCCAGGGTCAGGGAGTGCAGCTGGGGCTTGGACACAAGCAGCTGTGAGGATTATATGGGGCAGTTTACGGGATGCAGCCTGTGGAGCCCAGGCCCACAGTGAATGCTCAGTAAACAGTTCTCTTCCACGCCCAAGCCTCTCCAATTTTTCTTACTTTTTCTGGGAGGAAGTTTGGGTTTGGGACTAGCCTGACTCTATCATGTGCCAACCTCCCATTCACATGAAGAGAGGGTCCACAGGGGCAGCTGTGGCTGGAAAATAGCACATAGATGGCAGTGGTCCCATAAGACTATAATGCCATATTTTACTGTACCTTTTATGTGTATGTTTAGATATGTTTACATACACAAATACACACTATGGATTATGACTGCCTATAGTATTCAGTACAGTAGCAGGTTGTACAGGTTTGTAGTGTAGGAGCAAGAGGCTACCCCATCCAGCCTAGGTGTGTAGTGGGCTGTACCATCTAGGTTTGTGAAGTACACTCGATGACTTCATATGTTTGCATAGAACTTATCTCTGACATTAACAATGCATGACTGTAGCTGGTTCTGATGGGAACAAGAGGAGGCTGAAACAGTAATGAGTTGGTCTTGGACTCACTGAGTTCAGCCTTCACTGAGAAATGTGGAAATTGAGGCTCAGAGAGGTCAGCGACTCACCCAAGGCCGGGTAGGGCCTGAAACCCAGTCTTCTGACTCCTAGCCCAGAACAGATTCTGTCAGACCATTACCACGGTTTACTTCATTGTGAATCAGTTTTATAAGTTGTTACATTTTTTTTTACTTGATATTAAGTTATATTCTTATTAGAATGTCCCAACTCCTAGGGAGTTGGAGTACCACCCAAAAAAGAATACTTTTATTAGGATTAGAATAAAATCTAAGCTTGTATCCCAAGGCCAGCAAAGGGCCTATGTGTCCTGGACCCTGCCTACTTCTCTGAGCTCCCTCTCGCCCATCAGGTCCTACCTCCTGGCTGTTCCTTTCTGCCGCAGGGCCTTTGCATGTGCTGTTTCCTATGCTGGGATTACTGTCCCCTGCTTTTCCCTTGGCTGACTGCTTGTCACCCTTCAGGTGTCAGCTCAGCGATTCCCTCCATGGAGCGGCTCCATTGGCTACTGGGTCTAGGTTGGTTGGCTCTGTCATTCTCCACCATTGGCTTGTTTGTTTCCTTGACAGCACTCACCAGTATCCAAAGTGATCGTGCTGATCTATTTGCTCAGTTTTTTGTCACCACCTCTAACTAGAACGTAGACTCCATAATCACTGCTCAACCCCCAGCATTTAGATTAATCAGTGCTTTGCACTCAGTAGGTAATCAATACATGTTTGTTGAATCCATCAGTGCTGAATGTGGTTGTTCTTAGTCCATTTCTCTGACTTGGGATTTTACGTTTGGCTCTCACGATCCCTTGCTGAATGAGTAGTGCGAGTCAGGCCCTGGGCCAGATGCCGCAGGGGACACAAAGCGACATCCTCCCCCAGGATCAGGGCTCTCTCCACATGCCAGAAGACAATGTGGCTGAACCCTTCTCTAGTGCCCAGCACGGAGTGGTGTCCCTGTGAGGAACCTGTCATAATGATGATAAAAATCAGCCCTGGAGGTGAAGGAGGCTGCAGCATTCACCCACTGTCTGGGTGTCCTGTGGTGTCATGTTAGAGAGGAAGTGGTTTGAGTGGTCTGGTGTTTCTGTCTAGACCCCAGTGAATCTGTCATACACATGTAGGGTGTAGATCCATGGGGAGAGCTGGGCTTTGAGAGGCCTTGGCTCTCTCTGAGCCTCTGCTAAGTCATCCATAAAATGGGAATATGGCTGTTCTAGAGGGGGGATTGATGAGATTGCATAAATGCCCAGCCCAGGGCCTGCACTGCTCCAGAAGGTTGCTAGTAAGTGTGAGTCCCCTTCTCTTCCCCCTTGTGTGGTTGGCTCAGAGCCTCTGATTGTAGCAGAGGGATATAGGGCTGCCTGGAAGGGGCTCCAATCCCCCTCCCTGCTCACCTGGGCTGAGACTCTCTCTCGCCCATAGGGGGACCATGTGTGGATGGACCTGAGATTGGGGCAGGAGTTCGACGTGCCCATCGGGGCGGTGGTGAAGCTCTGCGACTCTGGGCAGGTCCAGGTGGTGGATGATGAAGACAATGTGAGTAGTCCCCTCCCTCCTCCTGCCCCATGCCTTGGGGTCAGACCTGGGCTGACAGCTGCCTTGATGCAGGGAGATGATCGAAAGGAGATGGAGGCCATGCCCATGCCCCCACTTCTGCCTCTCAGATGCCCCCTTCCATGAGCTTTCCCCAGCACCCCAACAAGAGGGAACCCCTGCCTGCCTCAGGCTACTTGTTCTGTTTCCACAAGCACTTCAGTCCACTCTGCATGGTGTTAGAGATGTGTGTGTGTGTGGTGGGGTTTGAGTGCAGGGGGAGCAGGCTAGGAGCTCCTCAGACACAGAGGTGCTTTGGGGGCAGACTGCATTCAAATCCTATCTCGTCCATTTGTTAGCTGCGCAAACTTGGCCTAGTCTCCTTCCCTCCTGACCCTCAGTTTCCTCTTTGTAAAATGAGGATAATAATACGTATCTCACAGGGCTGTTGACCCATACATGAGATCACACGTGCAGAACACCTCAGTGAAGTTAGTGCTAGTCTGAAAGTTAAATGAACGTCCACAGCCTCACTGTGTTGGGTTACTGACATCACATGAATCCACTGTCCACCTTGACACTGCTCTGGAAATTGGTCTCACAGATTAACCCTTTATCTGTGGCCCAGAAGGAAAGGGACCCCAGAAGTGTAAGTTTTCTAGGTAATGATAGTGGGGCCTTGGGGAGGGAAGGAGAGGTCTGAAGTCAGGGGCCTGCCCCGGAGAAGGTGGCTGGTTCACGTGAGGGCCCGGAGGGGAAGCCCTGGGGCCTCTGAGCATGCGTGCACATGTGTGTGTCACTGGGGGTATGCAGATGGGGTGCAGAGCACACAGGGGCAGCTTAGCAGGGATATGAAGAATCCAGGGAGATTCAGCTCTGCCATAATGTGGGCTGTGCCCTGCGGTGTGCCAGGGGCTGGGACACAGAATTGGACTGAGTCCCTCTTAGCCTCCTGGTCTGAGGGAGGAGAGTCAGGAGAAAGAGGGTGCAGGGACTTGAAACTGAGGCTCTGCTGGGGACGACGGGAGGGCTCAGGACCCTCGAGGCCAGGTGCTTGACAAGGAGTGGGCAGGAGCATCCCAGATATTCCTGCAGCCCTCAGGTGCATCCCCTCAGAGTTTGCAAGACCCTTTAACCCAAGTTCTGTCTTTGGACTCTCATGGCATCTGTGGAAGGCAGGGAGGGAAAGAATTGTCATCCCATGAGGAAACTGAGGCACATAGAGGGACCACACAGCCAGTCACACAGCTAGTAAGTGATGGTGCTGGGATTAGAACCCAGGACCTCTGTCTTCTATGCATGAGTTTCCCCTGTCAGCATTATCTCAGCGGCGACTTTGGAGCTCAGATTCTGCTAATCACATTTTTGGCCCTTGGGCCGTAGAACCCAAGGCCTGCAATATCATTCCAGAGGCTCCAGTTCTAGGACCCTCTAGGAACCTACTATGAGGGTGCAGCCACAGAAGGGGAGGCACAGGCTGGGTGGCAGCATAGACGGGCCTGCTAACCTGCCCAGAGCCCCCAGGGTGGGGACCAGGGACTCTGTCTGCAGGCTTGAGTTTCACCTGGGTCATGTTGCATGTCAGATGGTGTCCCGTAACTGCGTCACCGAATCCCAAAGGTCCCCTCCCGCTTCTCCTCCACCCAGGCCCTGAGAGTGGGGGCTGCAGGAGGGGTGGGCATGACTGGCTGGCAGGGGCAGTTCGGGAGGCTGGGGTTTGCATCTGTGGCATTGGACCCCCAGGGCTTCCAGACCGCTCCTTCACAAGCCTTTCCCACCCCCATTCCATCCCCTCCCTCCCAACTCCAGGCTGTCATCTCTTACCCCTCTGTCTGCCCACAGACTCCTAGCAACTTGAGAGCAGGGAACAGGCCAGTCCCATCTGGTTCCCCAGAGTTCATCAAGGGGTCTGCCCAGGGAAGGCTCTTGGCAAAGACT
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CTGTCAGGGGTAAGCCCAGGGTCAGGGAGTGCAGCTGGGGCTTGGACACAAGCAGCTGTGAGGATTATATGGGGCAGTTTACGGGATGCAGCCTGTGGAGCCCAGGCCCACAGTGAATGCTCAGTAAACAGTTCTCTTCCACGCCCAAGCCTCTCCAATTTTTCTTACTTTTTCTGGGAGGAAGTTTGGGTTTGGGACTAGCCTGACTCTATCATGTGCCAACCTCCCATTCACATGAAGAGAGGGTCCACAGGGGCAGCTGTGGCTGGAAAATAGCACATAGATGGCAGTGGTCCCATAAGACTATAATGCCATATTTTACTGTACCTTTTATGTGTATGTTTAGATATGTTTACATACACAAATACACACTATGGATTATGACTGCCTATAGTATTCAGTACAGTAGCAGGTTGTACAGGTTTGTAGTGTAGGAGCAAGAGGCTACCCCATCCAGCCTAGGTGTGTAGTGGGCTGTACCATCTAGGTTTGTGAAGTACACTCGATGACTTCATATGTTTGCATAGAACTTATCTCTGACATTAACAATGCATGACTGTAGCTGGTTCTGATGGGAACAAGAGGAGGCTGAAACAGTAATGAGTTGGTCTTGGACTCACTGAGTTCAGCCTTCACTGAGAAATGTGGAAATTGAGGCTCAGAGAGGTCAGCGACTCACCCAAGGCCGGGTAGGGCCTGAAACCCAGTCTTCTGACTCCTAGCCCAGAACAGATTCTGTCAGACCATTACCACGGTTTACTTCATTGTGAATCAGTTTTATAAGTTGTTACATTTTTTTTTACTTGATATTAAGTTATATTCTTATTAGAATGTCCCAACTCCTAGGGAGTTGGAGTACCACCCAAAAAAGAATACTTTTATTAGGATTAGAATAAAATCTAAGCTTGTATCCCAAGGCCAGCAAAGGGCCTATGTGTCCTGGACCCTGCCTACTTCTCTGAGCTCCCTCTCGCCCATCAGGTCCTACCTCCTGGCTGTTCCTTTCTGCCGCAGGGCCTTTGCATGTGCTGTTTCCTATGCTGGGATTACTGTCCCCTGCTTTTCCCTTGGCTGACTGCTTGTCACCCTTCAGGTGTCAGCTCAGCGATTCCCTCCATGGAGCGGCTCCATTGGCTACTGGGTCTAGGTTGGTTGGCTCTGTCATTCTCCACCATTGGCTTGTTTGTTTCCTTGACAGCACTCACCAGTATCCAAAGTGATCGTGCTGATCTATTTGCTCAGTTTTTTGTCACCACCTCTAACTAGAACGTAGACTCCATAATCACTGCTCAACCCCCAGCATTTAGATTAATCAGTGCTTTGCACTCAGTAGGTAATCAATACATGTTTGTTGAATCCATCAGTGCTGAATGTGGTTGTTCTTAGTCCATTTCTCTGACTTGGGATTTTACGTTTGGCTCTCACGATCCCTTGCTGAATGAGTAGTGCGAGTCAGGCCCTGGGCCAGATGCCGCAGGGGACACAAAGCGACATCCTCCCCCAGGATCAGGGCTCTCTCCACATGCCAGAAGACAATGTGGCTGAACCCTTCTCTAGTGCCCAGCACGGAGTGGTGTCCCTGTGAGGAACCTGTCATAATGATGATAAAAATCAGCCCTGGAGGTGAAGGAGGCTGCAGCATTCACCCACTGTCTGGGTGTCCTGTGGTGTCATGTTAGAGAGGAAGTGGTTTGAGTGGTCTGGTGTTTCTGTCTAGACCCCAGTGAATCTGTCATACACATGTAGGGTGTAGATCCATGGGGAGAGCTGGGCTTTGAGAGGCCTTGGCTCTCTCTGAGCCTCTGCTAAGTCATCCATAAAATGGGAATATGGCTGTTCTAGAGGGGGGATTGATGAGATTGCATAAATGCCCAGCCCAGGGCCTGCACTGCTCCAGAAGGTTGCTAGTAAGTGTGAGTCCCCTTCTCTTCCCCCTTGTGTGGTTGGCTCAGAGCCTCTGATTGTAGCAGAGGGATATAGGGCTGCCTGGAAGGGGCTCCAATCCCCCTCCCTGCTCACCTGGGCTGAGACTCTCTCTCGCCCATAGGTGGACCATGTGTGGATGGACCTGAGATTGGGGCAGGAGTTCGACGTGCCCATCGGGGCGGTGGTGAAGCTCTGCGACTCTGGGCAGGTCCAGGTGGTGGATGATGAAGACAATGTGAGTAGTCCCCTCCCTCCTCCTGCCCCATGCCTTGGGGTCAGACCTGGGCTGACAGCTGCCTTGATGCAGGGAGATGATCGAAAGGAGATGGAGGCCATGCCCATGCCCCCACTTCTGCCTCTCAGATGCCCCCTTCCATGAGCTTTCCCCAGCACCCCAACAAGAGGGAACCCCTGCCTGCCTCAGGCTACTTGTTCTGTTTCCACAAGCACTTCAGTCCACTCTGCATGGTGTTAGAGATGTGTGTGTGTGTGGTGGGGTTTGAGTGCAGGGGGAGCAGGCTAGGAGCTCCTCAGACACAGAGGTGCTTTGGGGGCAGACTGCATTCAAATCCTATCTCGTCCATTTGTTAGCTGCGCAAACTTGGCCTAGTCTCCTTCCCTCCTGACCCTCAGTTTCCTCTTTGTAAAATGAGGATAATAATACGTATCTCACAGGGCTGTTGACCCATACATGAGATCACACGTGCAGAACACCTCAGTGAAGTTAGTGCTAGTCTGAAAGTTAAATGAACGTCCACAGCCTCACTGTGTTGGGTTACTGACATCACATGAATCCACTGTCCACCTTGACACTGCTCTGGAAATTGGTCTCACAGATTAACCCTTTATCTGTGGCCCAGAAGGAAAGGGACCCCAGAAGTGTAAGTTTTCTAGGTAATGATAGTGGGGCCTTGGGGAGGGAAGGAGAGGTCTGAAGTCAGGGGCCTGCCCCGGAGAAGGTGGCTGGTTCACGTGAGGGCCCGGAGGGGAAGCCCTGGGGCCTCTGAGCATGCGTGCACATGTGTGTGTCACTGGGGGTATGCAGATGGGGTGCAGAGCACACAGGGGCAGCTTAGCAGGGATATGAAGAATCCAGGGAGATTCAGCTCTGCCATAATGTGGGCTGTGCCCTGCGGTGTGCCAGGGGCTGGGACACAGAATTGGACTGAGTCCCTCTTAGCCTCCTGGTCTGAGGGAGGAGAGTCAGGAGAAAGAGGGTGCAGGGACTTGAAACTGAGGCTCTGCTGGGGACGACGGGAGGGCTCAGGACCCTCGAGGCCAGGTGCTTGACAAGGAGTGGGCAGGAGCATCCCAGATATTCCTGCAGCCCTCAGGTGCATCCCCTCAGAGTTTGCAAGACCCTTTAACCCAAGTTCTGTCTTTGGACTCTCATGGCATCTGTGGAAGGCAGGGAGGGAAAGAATTGTCATCCCATGAGGAAACTGAGGCACATAGAGGGACCACACAGCCAGTCACACAGCTAGTAAGTGATGGTGCTGGGATTAGAACCCAGGACCTCTGTCTTCTATGCATGAGTTTCCCCTGTCAGCATTATCTCAGCGGCGACTTTGGAGCTCAGATTCTGCTAATCACATTTTTGGCCCTTGGGCCGTAGAACCCAAGGCCTGCAATATCATTCCAGAGGCTCCAGTTCTAGGACCCTCTAGGAACCTACTATGAGGGTGCAGCCACAGAAGGGGAGGCACAGGCTGGGTGGCAGCATAGACGGGCCTGCTAACCTGCCCAGAGCCCCCAGGGTGGGGACCAGGGACTCTGTCTGCAGGCTTGAGTTTCACCTGGGTCATGTTGCATGTCAGATGGTGTCCCGTAACTGCGTCACCGAATCCCAAAGGTCCCCTCCCGCTTCTCCTCCACCCAGGCCCTGAGAGTGGGGGCTGCAGGAGGGGTGGGCATGACTGGCTGGCAGGGGCAGTTCGGGAGGCTGGGGTTTGCATCTGTGGCATTGGACCCCCAGGGCTTCCAGACCGCTCCTTCACAAGCCTTTCCCACCCCCATTCCATCCCCTCCCTCCCAACTCCAGGCTGTCATCTCTTACCCCTCTGTCTGCCCACAGACTCCTAGCAACTTGAGAGCAGGGAACAGGCCAGTCCCATCTGGTTCCCCAGAGTTCATCAAGGGGTCTGCCCAGGGAAGGCTCTTGGCAAAGACT
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Subsets and Splits
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